cluster	gene	avg_diff	p_val	_hprdClass	_expr	_geneLists
EN-PFC1	HCRTR2	4.57439041	0	G protein coupled receptor	BrainSpLMD|3062;BrainSpMouseDev|122371	OMIM|602393
EN-PFC1	CYP26A1	4.077483916	0	Enzyme: Hydroxylase	BrainSpLMD|1592	OMIM|602239
EN-PFC1	COL19A1	3.878752476	0	Extracellular matrix protein	BrainSpLMD|1310;Eurexp|euxassay_009024|basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, fibula, frontal bone primordium, mandible, maxilla, metatarsus, nasal septum, orbito-sphenoid, otic capsule, parietal bone, petrous part, phalanx, rib, tarsus, tibia, turbinate, vault of skull	OMIM|120165
EN-PFC1	SORCS1	3.861223641	0	Cell surface receptor	BrainSpLMD|114815;Eurexp|euxassay_005027|dorsal root ganglion, frenulum, mantle layer, marginal layer, mesenchyme, neural retina, penis, trigeminal V, urethra, ventricular layer, wall	OMIM|606283
EN-PFC1	COL25A1	3.542139483	0	Extracellular matrix protein	BrainSpLMD|84570	OMIM|610004;HPO|84570|Abnormal vertebral segmentation and fusion, Anteverted nares, Autosomal recessive inheritance, Blepharophimosis, Congenital onset, Deeply set eye, Low posterior hairline, Oculomotor nerve palsy, Ptosis, Sensorineural hearing impairment, Short palpebral fissure, Strabismus
EN-PFC1	HS3ST4	3.48058909	0	Enzyme: Sulphotransferase	BrainSpLMD|9951;Eurexp|euxassay_013327|mantle layer	OMIM|604059
EN-PFC1	CARD10	3.39425906	0	Adapter molecule	BrainSpLMD|29775;Eurexp|euxassay_011116|embryo, incisor, metanephros, molar, oesophagus, renal/urinary system	OMIM|607209
EN-PFC1	MLIP	3.340528003	0	Unclassified	BrainSpLMD|90523	OMIM|614106
EN-PFC1	CLSTN2	3.251926769	0	Calcium binding protein	BrainSpLMD|64084;BrainSpMouseDev|40718	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611323
EN-PFC1	NPR3	3.228429246	0	Cell surface receptor	BrainSpLMD|4883;Eurexp|euxassay_010728|atrium, calyces, choroid invagination, choroid plexus, cochlea, cornea, endocardial tissue, endolymphatic duct, left lung, mantle layer, mesenchyme, pancreas, right lung, roof plate, utricle	OMIM|108962
EN-PFC1	CBLN4	3.207309912	0	Unclassified	BrainSpLMD|140689;Eurexp|euxassay_011849|mantle layer;BrainSpMouseDev|86816	OMIM|615029
EN-PFC1	C8orf34	3.198059347	0	Unclassified	BrainSpLMD|116328	
EN-PFC1	SLC26A4	3.174496169	0	Transport/cargo protein	BrainSpLMD|5172;Eurexp|euxassay_018970|brain, spinal cord, trigeminal V	OMIM|605646;HPO|5172|Abdominal distention, Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Coarse facial features, Cochlear malformation, Compensated hypothyroidism, Congenital sensorineural hearing impairment, Constipation, Enlarged vestibular aqueduct, Fatigue, Feeding difficulties, Global developmental delay, Goiter, Hypersomnia, Hypoplasia of the cochlea, Hypothyroidism, Intellectual disability, Intellectual disability, severe, Jaundice, Large fontanelles, Macroglossia, Muscle weakness, Muscular hypotonia, Sensorineural hearing impairment, Short stature, Thyroid agenesis, Thyroid carcinoma, Thyroid hypoplasia, Vestibular dysfunction
EN-PFC1	RP11.29G8.3	3.140338517	0			
EN-PFC1	GABRG3	3.051176134	0	Integral membrane protein	BrainSpLMD|2567;BrainSpMouseDev|14183	OMIM|600233
EN-PFC1	KLHL1	3.0472879	0	Cytoskeletal associated protein	BrainSpLMD|57626;Eurexp|euxassay_011007|extrinsic ocular muscle, mantle layer, ventral grey horn	OMIM|605332
EN-PFC1	ST18	3.030023735	0	Transcription regulatory protein	BrainSpLMD|9705;BrainSpMouseDev|88752	OMIM|617155
EN-PFC1	SUSD4	3.020898931	0	Complement protein		OMIM|615827
EN-PFC1	PAPPA	2.982542266	0	Metallo protease	BrainSpLMD|5069	OMIM|176385
EN-PFC1	CRYM	2.971415689	0	Enzyme: Deaminase	BrainSpLMD|1428;Eurexp|euxassay_004117|associated mesenchyme, cochlea, genital tubercle, incisor, mantle layer, marginal layer, medullary stroma, mesenchyme, molar, nasal cavity, perioptic mesenchyme, utricle, ventricular layer;BrainSpMouseDev|12754	OMIM|123740;HPO|1428|Autosomal dominant inheritance, Sensorineural hearing impairment
EN-PFC1	VSNL1	2.919171618	0	Calcium binding protein	BrainSpLMD|7447	OMIM|600817
EN-PFC1	RP11.264C15.2	2.915241063	0			
EN-PFC1	MACROD2	2.914196945	0	Unclassified	BrainSpLMD|140733	SFARI||Autism, 3 - Suggestive evidence;OMIM|611567
EN-PFC1	NHLH2	2.888685275	0	Transcription factor	BrainSpLMD|4808;Eurexp|euxassay_019487|dorsal root ganglion, mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|17839	OMIM|162361
EN-PFC1	LMO3	2.848895577	0	Transcription regulatory protein	BrainSpLMD|55885;Eurexp|euxassay_016491|intermediate grey horn, mantle layer, ventral grey horn;BrainSpMouseDev|73751	OMIM|180386
EN-PFC1	LRP1B	2.843860262	0	Cell surface receptor	BrainSpLMD|53353;Eurexp|euxassay_013815|floor plate, floorplate, roof plate	OMIM|608766;COSMIC||CLL, ovarian cancer, oesophageal squamous cell carcinoma, urothelial cancer
EN-PFC1	EGFEM1P	2.835989004	0			
EN-PFC1	ASTN2	2.827172875	0	Integral membrane protein	BrainSpLMD|23245;Eurexp|euxassay_012805|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, olfactory, pharyngo-tympanic tube, trachea, trigeminal V, trunk mesenchyme, vestibulocochlear VIII, vibrissa, vomeronasal organ;BrainSpMouseDev|35364	SFARI||Autism, 3 - Suggestive evidence;OMIM|612856
EN-PFC1	TMEM178A	2.827041721	0	Unclassified	BrainSpLMD|130733;Eurexp|euxassay_007980|mantle layer, marginal layer, ventral grey horn	
EN-PFC1	CDH18	2.823600355	0	Adhesion molecule	BrainSpLMD|1016;BrainSpMouseDev|107800	OMIM|603019
EN-PFC1	SATB1.AS1	2.803128888	0			
EN-PFC1	DPP10	2.77641141	0	Aminopeptidase;Protease	BrainSpLMD|57628	SFARI||Autism, 3 - Suggestive evidence;OMIM|608209
EN-PFC1	CNTNAP3	2.773765989	0	Adhesion molecule	Eurexp|euxassay_013224|mantle layer	SFARI||Autism, No category;OMIM|610517
EN-PFC1	RP11.26M5.3	2.751701878	0			
EN-PFC1	SLIT3	2.744144894	0	Ligand	BrainSpLMD|6586;BrainSpMouseDev|20326	SFARI||Autism, No category;OMIM|603745
EN-PFC1	GAS7	2.742465694	0	Unclassified	BrainSpLMD|8522;Eurexp|euxassay_001801|mantle layer, marginal layer	OMIM|603127;COSMIC||AML*
EN-PFC1	NR4A2	2.740858927	0	Nuclear receptor	BrainSpLMD|4929;BrainSpMouseDev|17994	OMIM|601828;HPO|4929|Bradykinesia, Constipation, Dementia, Depressivity, Dysarthria, Dysphagia, Dystonia, Insidious onset, Lewy bodies, Mask-like facies, Neuronal loss in central nervous system, Parkinsonism, Personality changes, Postural instability, Progressive, Resting tremor, Rigidity, Short stepped shuffling gait, Sleep disturbance, Sporadic, Substantia nigra gliosis, Urinary urgency, Weak voice
EN-PFC1	CACNG3	2.716319646	0	Voltage gated channel	BrainSpLMD|10368	OMIM|606403
EN-PFC1	LINGO2	2.715230087	0	Extracellular matrix protein	BrainSpLMD|158038;Eurexp|euxassay_007955|olfactory	OMIM|609793
EN-PFC1	GPR37	2.708841381	0	G protein coupled receptor	BrainSpLMD|2861;Eurexp|euxassay_005522|facial VII, floor plate, floorplate, neural retina, skeletal muscle, testis, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|14539	SFARI||Autism, 4 - Minimal evidence;OMIM|602583
EN-PFC1	C1orf95	2.706446211	0			
EN-PFC1	GRIK2	2.662306782	0	Extracellular ligand gated channel	BrainSpLMD|2898;Eurexp|euxassay_008383|cerebellum, cortex, diencephalon, footplate, hindgut, medulla oblongata, midbrain, midgut, pituitary, pons, spinal cord, stomach, telencephalon, tongue, trigeminal V;BrainSpMouseDev|14582	SFARI||Autism, 3 - Suggestive evidence;OMIM|138244;HPO|2898|Autosomal recessive inheritance, Global developmental delay, Infantile onset, Intellectual disability
EN-PFC1	GRM5	2.650687576	0	G protein coupled receptor	BrainSpLMD|2915;Eurexp|euxassay_016595|mantle layer;BrainSpMouseDev|72233	SFARI||Autism, No category;OMIM|604102
EN-PFC1	MACROD2.AS1	2.636262593	0			
EN-PFC1	OLFM3	2.619428573	0	Secreted polypeptide;Unclassified	BrainSpLMD|118427	OMIM|607567
EN-PFC1	HSPA12A	2.610814035	0	Heat shock protein	BrainSpLMD|259217	OMIM|610701
EN-PFC1	GABRA5	2.585209689	0	Extracellular ligand gated channel	BrainSpLMD|2558;BrainSpMouseDev|75040	SFARI||Autism, 5 - Hypothesized but untested;OMIM|137142
EN-PFC1	CDH6	2.527957569	0	Adhesion molecule	BrainSpLMD|1004;BrainSpMouseDev|12348	OMIM|603007
EN-PFC1	KHDRBS3	2.495305492	0	RNA binding protein	BrainSpLMD|10656	SFARI||Autism, 5 - Hypothesized but untested;OMIM|610421
EN-PFC1	SLC26A4.AS1	2.465557886	0			
EN-PFC1	PCSK2	2.45717495	0	Unclassified	BrainSpLMD|5126;BrainSpMouseDev|18315	OMIM|162151
EN-PFC1	IGSF21	2.412137143	0	Unclassified	BrainSpLMD|84966;Eurexp|euxassay_006157|cervical, cervico-thoracic, corpus striatum, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, olfactory, retina, thoracic, trigeminal V	
EN-PFC1	GRIN2B	2.372015674	0	Extracellular ligand gated channel	BrainSpLMD|2904;BrainSpMouseDev|14588	SFARI||Autism, 1 - High confidence;OMIM|138252;HPO|2904|Abnormality of skin morphology, Absent speech, Autosomal dominant inheritance, Behavioral abnormality, Developmental regression, EEG abnormality, Epileptic encephalopathy, Generalized hypotonia, Global developmental delay, Hypsarrhythmia, Infantile spasms, Intellectual disability, Myoclonus, Seizures, Variable expressivity
EN-PFC1	SLC5A8	2.366135596	0	Membrane transport protein	BrainSpLMD|160728;Eurexp|euxassay_019726|olfactory, rectum	OMIM|608044
EN-PFC1	PCSK5	2.350131742	0	Serine protease	BrainSpLMD|5125	OMIM|600488
EN-PFC1	PRICKLE2	2.345772354	0	Unclassified	BrainSpLMD|166336	SFARI||Autism, 3 - Suggestive evidence;OMIM|608501
EN-PFC1	RP11.424M22.3	2.337821385	0			
EN-PFC1	PDZD2	2.334948677	0	Unclassified	BrainSpLMD|23037;BrainSpMouseDev|43913	OMIM|610697
EN-PFC1	LMO7	2.317520918	0	Transcription regulatory protein	BrainSpLMD|4008	OMIM|604362
EN-PFC1	KCNMA1	2.3100738	0	Ion channel	BrainSpLMD|3778	SFARI||Autism, 4 - Minimal evidence;OMIM|600150;HPO|3778|Absence seizures, Autosomal dominant inheritance, EEG with spike-wave complexes (>3.5 Hz), Generalized tonic-clonic seizures, Paroxysmal dyskinesia
EN-PFC1	KCNG1	2.288677925	0	Voltage gated channel	BrainSpLMD|3755	OMIM|603788
EN-PFC1	SYN3	2.25343888	0	Transport/cargo protein	BrainSpLMD|8224	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602705
EN-PFC1	GPRIN3	2.252382221	0	Unclassified	BrainSpLMD|285513	OMIM|611241
EN-PFC1	ARHGAP20	2.228984284	0	GTPase activating protein	BrainSpLMD|57569;Eurexp|euxassay_010398|mesenchyme	OMIM|609568
EN-PFC1	MTUS2	2.22515129	0	Cytoskeletal protein;Unclassified	BrainSpLMD|23281;Eurexp|euxassay_014799|adenohypophysis, alar columns, alar plate, basal plate, cardiac muscle, cerebral cortex, diencephalon, dorsal root ganglion, epithalamus, forebrain, glossopharyngeal IX, heart, hindbrain, hypogastric plexus, hypothalamus, interventricular septum, lamina terminalis, lateral wall, left ventricle, lung, mantle layer, marginal layer, metencephalon, midbrain, muscular part, neural retina, nucleus pulposus, olfactory lobe, pituitary, pons, retina, right ventricle, roof plate, spinal cord, telencephalon, thalamus, trigeminal V, vagal X nerve trunk, vagus X, ventricle, vestibulocochlear VIII	
EN-PFC1	LRRTM4	2.211369883	0	Integral membrane protein	BrainSpLMD|80059;Eurexp|euxassay_013925|mantle layer, marginal layer, tegmentum	OMIM|610870
EN-PFC1	RP11.158J3.2	2.186172498	0			
EN-PFC1	RP11.642D21.1	2.176895861	0			
EN-PFC1	ELMOD1	2.17435705	0	Unclassified	BrainSpLMD|55531;Eurexp|euxassay_015979|mantle layer, ventral grey horn, vibrissa	OMIM|615456
EN-PFC1	GARNL3	2.153818478	0	GTPase activating protein	BrainSpLMD|84253;Eurexp|euxassay_009037|dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn	
EN-PFC1	MYO5B	2.153066982	0	Structural protein	BrainSpLMD|4645;Eurexp|euxassay_010054|choroid plexus, cortex, mantle layer, midgut, skeletal muscle, vestibulocochlear VIII	OMIM|606540;HPO|4645|Autosomal recessive inheritance, Death in infancy, Dehydration, Growth delay, Malnutrition, Protracted diarrhea, Villous atrophy
EN-PFC1	FOSL2	2.12478054	0	Transcription factor	BrainSpLMD|2355;Eurexp|euxassay_018136|adrenal gland, axial skeleton, calyces, clavicle, ductus deferens, fundus, hindgut, intervertebral disc, mandible, mantle layer, marginal layer, maxilla, midgut, pelvis, testis, urethra, vertebral cartilage condensation, vibrissa;BrainSpMouseDev|14061	OMIM|601575
EN-PFC1	SH3GL2	2.118511256	0	Unclassified	BrainSpLMD|6456	OMIM|604465
EN-PFC1	KIAA0319	2.115354884	0	Integral membrane protein	BrainSpLMD|9856;Eurexp|euxassay_011052|dorsal root ganglion, olfactory	OMIM|609269
EN-PFC1	CSMD3	2.115064681	0	Integral membrane protein	BrainSpLMD|114788;Eurexp|euxassay_013996|mantle layer, tegmentum, ventricle	OMIM|608399;COSMIC||ovarian cancer, oral SCC, lung cancer
EN-PFC1	CPNE5	2.114860138	0	Transport/cargo protein	BrainSpLMD|57699	OMIM|604209
EN-PFC1	RNU6.768P	2.114298281	0			
EN-PFC1	GPR12	2.113351758	0	G protein coupled receptor	BrainSpLMD|2835;Eurexp|euxassay_005675|cerebral cortex	OMIM|600752
EN-PFC1	GNG8	2.109678553	0	G protein	BrainSpLMD|94235	
EN-PFC1	NRCAM	2.082892122	0	Adhesion molecule	BrainSpLMD|4897;BrainSpMouseDev|106439	SFARI||Autism, 4 - Minimal evidence;OMIM|601581
EN-PFC1	CNTN1	2.074783708	0	Adhesion molecule	BrainSpLMD|1272;Eurexp|euxassay_006852|4th ventricle, calyces, choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, marginal layer, maxilla, neural retina, olfactory, pelvis, pituitary, trigeminal V, ureter, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|12588	OMIM|600016;HPO|1272|Akinesia, Arachnodactyly, Areflexia, Autosomal recessive inheritance, Camptodactyly, Death in infancy, Fetal akinesia sequence, High, narrow palate, Hypertelorism, Joint contracture of the hand, Neonatal hypotonia, Oval face, Overlapping fingers, Polyhydramnios, Poor suck, Respiratory insufficiency due to muscle weakness, Scaphocephaly, Small for gestational age
EN-PFC1	PDE1A	2.055187812	0	Enzyme: Phosphodiesterase	BrainSpLMD|5136;BrainSpMouseDev|18339	OMIM|171890
EN-PFC1	ZFPM2	2.054249144	0	Transcription regulatory protein	BrainSpLMD|23414;Eurexp|euxassay_009941|mantle layer;BrainSpMouseDev|22519	OMIM|603693;HPO|23414|Abnormal nasal morphology, Abnormal sex determination, Abnormality of the labia, Abnormality of the scrotum, Ambiguous genitalia, Autosomal dominant inheritance, Azoospermia, Brachydactyly, Broad forehead, Clinodactyly of the 5th finger, Clitoral hypertrophy, Congenital diaphragmatic hernia, Cryptorchidism, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Dolichocephaly, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,XY karyotype, Fused labia minora, Gonadal dysgenesis, Gynecomastia, Hypergonadotropic hypogonadism, Hypoplasia of the vagina, Hypospadias, Intrauterine growth retardation, Male infertility, Micropenis, Osteoporosis, Preauricular pit, Primary amenorrhea, Proptosis, Sex reversal, Sparse axillary hair, Sparse pubic hair, Streak ovary, Tetralogy of Fallot, Thin vermilion border, Underdeveloped supraorbital ridges, Urogenital sinus anomaly, Vanishing testis
EN-PFC1	SLC35F2	2.054060038	0	Membrane transport protein	BrainSpLMD|54733;Eurexp|euxassay_003909|genital tubercle, incisor, lateral wall, lung, mantle layer, metanephros, midgut, molar, naris, olfactory lobe, palatal shelf, pancreas, rectum, respiratory, submandibular gland primordium, thymus primordium, turbinate bones	
EN-PFC1	GUCY1A3	2.045421965	0			
EN-PFC1	RGS6	2.04128019	0	GTPase activating protein	BrainSpLMD|9628	OMIM|603894
EN-PFC1	CSGALNACT1	2.023349752	0	Enzyme: Transferase	BrainSpLMD|55790	OMIM|616615
EN-PFC1	GUCY1A2	2.004693463	0	Guanylate cyclase	BrainSpLMD|2977	SFARI||Autism, 4 - Minimal evidence;OMIM|601244
EN-PFC1	YPEL2	1.980287109	0	Unclassified	BrainSpLMD|388403	OMIM|609723
EN-PFC1	KCTD12	1.95214483	0	Ion channel	BrainSpLMD|115207;BrainSpMouseDev|88550	OMIM|610521
EN-PFC1	LCORL	1.941706584	0	Transcription factor	BrainSpLMD|254251	OMIM|611799
EN-PFC1	DOCK9	1.935813598	0	Guanine nucleotide exchange factor	BrainSpLMD|23348	OMIM|607325
EN-PFC1	OPCML	1.92898809	0	Adhesion molecule	BrainSpLMD|4978;Eurexp|euxassay_011103|dorsal root ganglion, epithalamus, facial VII, glossopharyngeal IX, mantle layer, marginal layer, tongue, trigeminal V	OMIM|600632
EN-PFC1	ADAMTSL1	1.86437757	0	Secreted polypeptide	BrainSpLMD|92949	OMIM|609198
EN-PFC1	CAMKV	1.841110818	0	Unclassified	BrainSpLMD|79012;Eurexp|euxassay_007008|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, phalanx, spinal cord	OMIM|614993
EN-PFC1	KAZN	1.836701768	0	Unclassified	BrainSpLMD|23254	
EN-PFC1	ANO4	1.835777233	0	Integral membrane protein	BrainSpLMD|121601;Eurexp|euxassay_010917|dorsal root ganglion, trigeminal V	OMIM|610111
EN-PFC1	RALYL	1.819624427	0	RNA binding protein	BrainSpLMD|138046;Eurexp|euxassay_006099|brain, spinal cord, trigeminal V	OMIM|614648
EN-PFC1	KCNJ6	1.818290306	0	Inward rectifier channel	BrainSpLMD|3763;BrainSpMouseDev|16295	OMIM|600877;HPO|3763|Abnormality of eye movement, Abnormality of the forehead, Absence of subcutaneous fat, Autosomal dominant inheritance, Congenital generalized lipodystrophy, Decreased testicular size, Dimple chin, Dyspnea, Failure to thrive, Flexion contracture, Generalized lipodystrophy, Gingival overgrowth, High palate, High, narrow palate, Hyperreflexia, Hypertonia, Intellectual disability, profound, Intellectual disability, severe, Large eyes, Loss of facial adipose tissue, Mask-like facies, Microcephaly, Micrognathia, Narrow naris, Narrow nasal bridge, Open mouth, Opisthotonus, Polyhydramnios, Postnatal growth retardation, Premature skin wrinkling, Progeroid facial appearance, Prominent nasal tip, Proptosis, Recurrent pneumonia, Respiratory insufficiency, Scoliosis, Severe global developmental delay, Shallow orbits, Short philtrum, Spastic tetraparesis, Tented upper lip vermilion, Underdeveloped nasal alae, Upper airway obstruction
EN-PFC1	LRRC1	1.810055098	0	Unclassified	BrainSpLMD|55227	SFARI||Autism, 4 - Minimal evidence;OMIM|608195
EN-PFC1	GRIK3	1.798486648	0	Extracellular ligand gated channel	BrainSpLMD|2899;BrainSpMouseDev|14583	SFARI||Autism, No category;OMIM|138243
EN-PFC1	CLCN4	1.7903357	0	Voltage gated channel	BrainSpLMD|1183	OMIM|302910;HPO|1183|Coarse facial features, Generalized hypotonia, Global developmental delay, Intellectual disability, Intellectual disability, mild, X-linked recessive inheritance
EN-PFC1	TSHZ3	1.789885825	0	DNA binding protein	BrainSpLMD|57616;Eurexp|euxassay_005648|dorsal root ganglion	SFARI||Autism, 4 - Minimal evidence;OMIM|614119
EN-PFC1	KIAA1456	1.789231281	0	Unclassified;Enzyme: Aminomethyl transferase	BrainSpLMD|57604;BrainSpMouseDev|106517	OMIM|615666
EN-PFC1	GPR22	1.770590211	0	G protein coupled receptor	BrainSpLMD|2845	OMIM|601910
EN-PFC1	NTRK3	1.766718952	0	Receptor tyrosine kinase	BrainSpLMD|4916;Eurexp|euxassay_017897|corpus striatum, dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|17980	SFARI||Autism, 4 - Minimal evidence;OMIM|191316;COSMIC||congenital fibrosarcoma, secretory breast
EN-PFC1	B3GAT1	1.760540176	0	Integral membrane protein	BrainSpLMD|27087;Eurexp|euxassay_012950|mantle layer	OMIM|151290
EN-PFC1	PLXDC2	1.75379342	0	Cell surface receptor	BrainSpLMD|84898;Eurexp|euxassay_002573|body-wall mesenchyme, choroid plexus, cochlear duct, diaphragm, epidermis, epithelium, humerus, mantle layer, submandibular gland primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|606827
EN-PFC1	SPHKAP	1.747913469	0	Unclassified	Eurexp|euxassay_011158|footplate, mantle layer, marginal layer, pancreas, pineal primordium, tegmentum, trigeminal V	OMIM|611646
EN-PFC1	WASF1	1.744652217	0	Adapter molecule	BrainSpLMD|8936;Eurexp|euxassay_004192|brain, dorsal root ganglion, glossopharyngeal IX, incisor, molar, spinal cord, trigeminal V, vagus X	OMIM|605035
EN-PFC1	CACNA1A	1.740176439	0	Voltage gated channel	BrainSpLMD|773;Eurexp|euxassay_006343|brain, central nervous system, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|12071	SFARI||Autism, No category;OMIM|601011;HPO|773|Abnormal vestibulo-ocular reflex, Abnormality of movement, Agitation, Anxiety, Ataxia, Athetosis, Auditory hallucinations, Autosomal dominant inheritance, Cerebellar atrophy, Cerebellar vermis atrophy, Coma, Confusion, Diplopia, Downbeat nystagmus, Drowsiness, Dysarthria, Dyscalculia, Dysphagia, Dysphasia, Dystonia, EEG abnormality, Epileptic encephalopathy, Episodic ataxia, Esotropia, Fever, Flexion contracture, Gaze-evoked nystagmus, Generalized hypotonia, Genetic anticipation, Global developmental delay, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Heterogeneous, Hyperreflexia, Hypertonia, Impaired smooth pursuit, Incomplete penetrance, Migraine, Migraine with aura, Muscle weakness, Myotonia, Nystagmus, Paresthesia, Progressive, Progressive cerebellar ataxia, Psychosis, Saccadic smooth pursuit, Seizures, Sensory neuropathy, Tinnitus, Transient unilateral blurring of vision, Tremor, Vertigo, Vestibular dysfunction, Visual hallucinations
EN-PFC1	SCN2A	1.728607402	0	Voltage gated channel	BrainSpLMD|6326	SFARI||Autism, 1 - High confidence;OMIM|182390;HPO|6326|Abnormality of skin morphology, Abnormality of vision, Ataxia, Autosomal dominant inheritance, Choreoathetosis, Cutaneous photosensitivity, Cyanosis, Deeply set eye, Developmental regression, Dialeptic seizures, Dysesthesia, Dyskinesia, EEG abnormality, Epileptic encephalopathy, Febrile seizures, Focal clonic seizures, Focal seizures, Focal seizures, afebril, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Generalized tonic-clonic seizures with focal onset, Global developmental delay, Hypertonia, Hypsarrhythmia, Infantile onset, Infantile spasms, Muscular hypotonia, Myoclonus, Neurodevelopmental delay, Normal interictal EEG, Obtundation status, Pschomotor retardation, Reduced consciousness/confusion, Seizures, Spastic tetraplegia, Status epilepticus, Tremor, Variable expressivity
EN-PFC1	COMMD2	1.724338884	0	Unclassified	BrainSpLMD|51122	OMIM|616699
EN-PFC1	TARBP1	1.715126233	0	RNA binding protein	BrainSpLMD|6894	OMIM|605052
EN-PFC1	NOVA1	1.713671392	0	RNA binding protein	BrainSpLMD|4857	OMIM|602157
EN-PFC1	SIPA1L1	1.712428194	0	GTPase activating protein	BrainSpLMD|26037	OMIM|617504
EN-PFC1	DMD	1.709727383	0	Structural protein	BrainSpLMD|1756;Eurexp|euxassay_010997|incisor, lateral wall, mantle layer, molar, ventricular layer, vibrissa	SFARI||Autism, No category;OMIM|300377;HPO|1756|Abnormal urinary color, Adult onset, Arrhythmia, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Childhood onset, Cognitive impairment, Congestive heart failure, Delayed speech and language development, Difficulty climbing stairs, Difficulty walking, Dilated cardiomyopathy, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Exercise intolerance, Falls, Fatigue, Flexion contracture, Generalized hypotonia, Global developmental delay, Gowers sign, Hyperlordosis, Hyporeflexia, Hypoventilation, Intellectual disability, Intellectual disability, mild, Motor delay, Muscle cramps, Muscle weakness, Muscular dystrophy, Myalgia, Myoglobinuria, Progressive muscle weakness, Proximal muscle weakness, Respiratory failure, Respiratory insufficiency, Scoliosis, Skeletal muscle atrophy, Specific learning disability, Waddling gait, X-linked inheritance, X-linked recessive inheritance
EN-PFC1	EPHA7	1.708217401	0	Receptor tyrosine kinase	BrainSpLMD|2045;Eurexp|euxassay_008884|eyelid, incisor, lip, lung, mantle layer, mesenchyme, metanephros, metatarsus, molar, palatal shelf, penis, phalanx, saccule, tongue, trigeminal V, urethra, valve;BrainSpMouseDev|13619	OMIM|602190;COSMIC||CRC, melanoma
EN-PFC1	XKR4	1.704949462	0	Integral membrane protein		
EN-PFC1	RYR3	1.697454226	0	Intracellular ligand gated channel	BrainSpLMD|6263	OMIM|180903
EN-PFC1	CTTNBP2	1.697067785	0	Unclassified	BrainSpLMD|83992;Eurexp|euxassay_015493|dorsal grey horn, limb, mantle layer, penis, thalamus;BrainSpMouseDev|29776	SFARI||Autism, 3 - Suggestive evidence;OMIM|609772
EN-PFC1	CSMD1	1.692181552	0	Integral membrane protein	BrainSpLMD|64478	SFARI||Autism, No category;OMIM|608397
EN-PFC1	SCUBE1	1.687004833	0	Secreted polypeptide	BrainSpLMD|80274;BrainSpMouseDev|41281	OMIM|611746
EN-PFC1	FEZF2	1.68532354	0	Transcription factor	BrainSpLMD|55079;Eurexp|euxassay_009770|mantle layer, ventricular layer, vomeronasal organ;BrainSpMouseDev|34002	SFARI||Autism, 4 - Minimal evidence;OMIM|607414
EN-PFC1	SPOCK1	1.680244838	0	Extracellular matrix protein	BrainSpLMD|6695;Eurexp|euxassay_008541|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, incisor, mantle layer, midbrain, molar, neural retina, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|602264
EN-PFC1	LRRC16A	1.672319051	0			
EN-PFC1	TNR	1.668772184	0	Extracellular matrix protein	BrainSpLMD|7143;Eurexp|euxassay_012507|mantle layer, tegmentum, ventral grey horn	OMIM|601995
EN-PFC1	SLC4A10	1.660499449	0	Membrane transport protein	BrainSpLMD|57282;Eurexp|euxassay_019732|choroid plexus, olfactory lobe	SFARI||Autism, 4 - Minimal evidence;OMIM|605556
EN-PFC1	ADCY1	1.657567715	0	Adenylate cyclase	BrainSpLMD|107;Eurexp|euxassay_014209|facial VII, mantle layer, trigeminal V;BrainSpMouseDev|129123	OMIM|103072;HPO|107|Autosomal recessive inheritance, Prelingual sensorineural hearing impairment
EN-PFC1	CDH13	1.64941782	0	Adhesion molecule	BrainSpLMD|1012;Eurexp|euxassay_011981|Meckel's cartilage, dorsal root ganglion, femur, fibula, handplate, humerus, lip, mantle layer, marginal layer, phalanx, scapula, tarsus, tibia, trigeminal V, vagus X;BrainSpMouseDev|12339	OMIM|601364
EN-PFC1	ARHGAP44	1.64786106	0		BrainSpLMD|9912;Eurexp|euxassay_006838|facial VII, glossopharyngeal IX, left lung, mantle layer, marginal layer, neural retina, olfactory, right lung, trachea, trigeminal V, ventral grey horn	OMIM|617716
EN-PFC1	XPR1	1.64700081	0	Integral membrane protein	BrainSpLMD|9213;Eurexp|euxassay_010259|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII	OMIM|605237;HPO|9213|Abnormality of neuronal migration, Adult onset, Autosomal dominant inheritance, Basal ganglia calcification, Cerebral calcification, Choreoathetosis, Corneal opacity, Dementia, Depressivity, Dysarthria, Hepatomegaly, Intrauterine growth retardation, Memory impairment, Microcephaly, Parkinsonism, Progressive, Seizures, Subcutaneous hemorrhage, Thrombocytopenia, Ventriculomegaly
EN-PFC1	FAT4	1.64119616	0	Adhesion molecule	BrainSpLMD|79633	OMIM|612411;COSMIC||lymphoma, pancreatic, head and neck, melanoma, hepatocellular carcinoma, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2;HPO|79633|Atresia of the external auditory canal, Autosomal recessive inheritance, Bifid scrotum, Blepharophimosis, Clinodactyly, Conductive hearing impairment, Congenital onset, Cryptorchidism, Cutaneous finger syndactyly, Dental malocclusion, Downturned corners of mouth, Epicanthus, Feeding difficulties, Generalized hypotonia, Growth delay, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypospadias, Intellectual disability, Irregular dentition, Joint laxity, Malar flattening, Micrognathia, Micropenis, Microtia, Midface retrusion, Narrow chest, Narrow forehead, Osteopenia, Ptosis, Renal hypoplasia, Sacral dimple, Scoliosis, Sensorineural hearing impairment, Short 4th metacarpal, Short clavicles, Short fourth metatarsal, Short palpebral fissure, Skeletal dysplasia, Talipes equinovarus, Tented upper lip vermilion, Tracheomalacia, Wide anterior fontanel, Wide cranial sutures, Wide nasal bridge
EN-PFC1	GRIA2	1.609042194	0	Extracellular ligand gated channel	BrainSpLMD|2891;Eurexp|euxassay_010006|brain, dorsal root ganglion, molar, penis, skeletal muscle, spinal cord, trigeminal V, vagus X;BrainSpMouseDev|14576	OMIM|138247
EN-PFC1	KLHL32	1.599786323	0	Cytoskeletal associated protein	BrainSpLMD|114792	
EN-PFC1	FAT3	1.593803229	0	Integral membrane protein	Eurexp|euxassay_015982|axial muscle, clavicle, cortex, diaphragm, dorsal root ganglion, exoccipital bone, facial VII, femur, lip, mandible, mantle layer, maxilla, mesenchyme, metatarsus, orbito-sphenoid, pelvic girdle, phalanx, rib, saccule, skeletal muscle, sternum, thymus primordium, trigeminal V, urethra, vault of skull, ventricular layer, vibrissa;BrainSpMouseDev|92930	OMIM|612483;COSMIC||SCC, colon adenocarcinoma, gastric adenocarcinoma
EN-PFC1	TLE4	1.582153567	0	Transcription factor	BrainSpLMD|7091;Eurexp|euxassay_018870|calyces, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|21647	OMIM|605132
EN-PFC1	WASF3	1.579607621	0	Cytoskeletal associated protein	BrainSpLMD|10810;Eurexp|euxassay_003179|adrenal gland, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, spinal cord, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|605068
EN-PFC1	ZNF382	1.57593397	0	Transcription regulatory protein	BrainSpLMD|84911	OMIM|609516
EN-PFC1	MPP6	1.573466485	0	Unclassified	BrainSpLMD|51678	SFARI||Autism, No category;OMIM|606959
EN-PFC1	GABBR2	1.560921084	0	G protein coupled receptor	BrainSpLMD|9568;BrainSpMouseDev|88950	OMIM|607340
EN-PFC1	ADRBK2	1.560159509	0			
EN-PFC1	TOX	1.527406053	0	DNA binding protein	BrainSpLMD|9760;Eurexp|euxassay_006612|axial skeleton, cervical, cervico-thoracic, clavicle, cricoid, diencephalon, exoccipital bone, femur, hindbrain, inner ear, lip, lung, mandible, mantle layer, mesenchyme, metanephros, metatarsus, midbrain, nasal septum, neural retina, orbito-sphenoid, pelvic girdle, penis, phalanx, rib, scapula, stomach, telencephalon, thoracic, thymus primordium, thyroid, turbinate, vault of skull, vibrissa, vomeronasal organ;BrainSpMouseDev|89963	OMIM|606863
EN-PFC1	PLEKHA5	1.518254713	0	Adapter molecule	BrainSpLMD|54477;Eurexp|euxassay_005649|basal plate, calyces, cervical, cervico-thoracic, cochlear component, dorsal root ganglion, facial VII, glossopharyngeal IX, inferior, intraventricular portion, mantle layer, metanephros, pelvis, stomach, superior, thoracic, trigeminal V, vagus X, vestibular component	OMIM|607770
EN-PFC1	MEF2C	1.512987554	0	Transcription regulatory protein	BrainSpLMD|4208;Eurexp|euxassay_018172|axial skeleton, clavicle, diaphragm, dorsal grey horn, glossopharyngeal IX, incisor, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metatarsus, orbito-sphenoid, phalanx, rest of mesenchyme, rib, skeletal muscle, trigeminal V, vault of skull, vertebral axis muscle system, vibrissa;BrainSpMouseDev|17029	SFARI||Autism, 4 - Minimal evidence;OMIM|600662;HPO|4208|Anteverted nares, Autistic behavior, Autosomal dominant inheritance, Broad forehead, Delayed speech and language development, Depressed nasal bridge, Downturned corners of mouth, Generalized hypotonia, High forehead, Hypertelorism, Hypoplasia of the corpus callosum, Inability to walk, Intellectual disability, severe, Low-set ears, Motor delay, Muscular hypotonia, Poor eye contact, Seizures, Short chin, Short nose, Short philtrum, Sporadic, Stereotypy, Upslanted palpebral fissure, Ventriculomegaly
EN-PFC1	FBXW7	1.493599984	0	Ubiquitin proteasome system protein	BrainSpLMD|55294;BrainSpMouseDev|30242	OMIM|606278;COSMIC||colorectal, endometrial, T-ALL
EN-PFC1	TBR1	1.491253121	0	Transcription factor	BrainSpLMD|10716;BrainSpMouseDev|21136	SFARI||Autism, 1 - High confidence;OMIM|604616;HPO|10716|Abnormality of oral frenula, Abnormality of the iris, Autistic behavior, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Cataract, Cleft palate, Coloboma, Downslanted palpebral fissures, Failure to thrive, Growth delay, Hand clenching, Hypertelorism, Intellectual disability, Long fingers, Low-set, posteriorly rotated ears, Microphthalmia, Neonatal hypotonia, Seizures, Severe global developmental delay, Short neck, Short philtrum, Small face, Small for gestational age, Toe syndactyly
EN-PFC1	KLHL5	1.480061721	0	Cytoskeletal associated protein	BrainSpLMD|51088;Eurexp|euxassay_012137|dorsal root ganglion, glossopharyngeal IX, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, mesenchyme, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|608064
EN-PFC1	MCTP1	1.478508858	0	Calcium binding protein	BrainSpLMD|79772	OMIM|616296
EN-PFC1	SHISA9	1.475391397	0	Unclassified		OMIM|613346
EN-PFC1	DNM3	1.46737306	0	GTPase	BrainSpLMD|26052	OMIM|611445
EN-PFC1	GRIP1	1.465233873	0	-	Eurexp|euxassay_013281|neural retina	SFARI||Autism, 2 - Strong candidate;OMIM|604597;HPO|23426|Abnormal cortical gyration, Abnormal heart morphology, Abnormality of the anus, Abnormality of the pinna, Abnormality of the small intestine, Abnormality of the thymus, Abnormality of the umbilicus, Absent eyebrow, Absent eyelashes, Ambiguous genitalia, Anal atresia, Anal stenosis, Anophthalmia, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb, Atresia of the external auditory canal, Autosomal recessive inheritance, Bicornuate uterus, Bifid tongue, Bilateral microphthalmos, Blindness, Calvarial skull defect, Choanal stenosis, Cleft ala nasi, Cleft palate, Cleft upper lip, Clitoral hypertrophy, Conductive hearing impairment, Corneal opacity, Cryptophthalmos, Cryptorchidism, Cupped ear, Cutaneous finger syndactyly, Dental crowding, Dental malocclusion, Depressed nasal bridge, Difficulty in tongue movements, Encephalocele, Extension of hair growth on temples to lateral eyebrow, External ear malformation, Facial cleft, Female pseudohermaphroditism, Finger syndactyly, Hydrocephalus, Hypertelorism, Hypoplasia of penis, Hypoplastic superior helix, Hypospadias, Intellectual disability, Lacrimal duct aplasia, Laryngeal atresia, Laryngeal stenosis, Laryngeal web, Low-set ears, Low-set, posteriorly rotated ears, Malformed lacrimal ducts, Microcephaly, Micropenis, Microphthalmia, Midline nasal groove, Morphological abnormality of the middle ear, Multicystic kidney dysplasia, Myelomeningocele, Pulmonary hypoplasia, Renal hypoplasia, Renal hypoplasia/aplasia, Scrotal hypoplasia, Severe T-cell immunodeficiency, Subglottic stenosis, Toe syndactyly, Underdeveloped nasal alae, Upper eyelid coloboma, Vaginal atresia, Wide intermamillary distance, Wide nasal bridge, Wide nose, Wide pubic symphysis
EN-PFC1	CNTNAP2	1.446182603	0	Adhesion molecule	BrainSpLMD|26047;Eurexp|euxassay_011473|facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V	SFARI||Autism, 2 - Strong candidate;OMIM|604569;COSMIC||glioma, melanoma;HPO|26047|Cortical dysplasia, Delayed gross motor development, Hyperactivity, Impaired social interactions, Intellectual disability, Progressive language deterioration, Reduced tendon reflexes, Seizures
EN-PFC1	NLGN1	1.445718702	0	Adhesion molecule	BrainSpLMD|22871	SFARI||Autism, 3 - Suggestive evidence;OMIM|600568
EN-PFC1	GAREM	1.436784881	0			
EN-PFC1	SCD5	1.433997261	0	Enzyme: Oxidoreductase	BrainSpLMD|79966	OMIM|608370
EN-PFC1	PDGFC	1.417312259	0	Growth factor	BrainSpLMD|56034;Eurexp|euxassay_003799|choroid plexus, cochlea, cochlear duct, cortex, epithelium, fundus region, gland, head mesenchyme, hindgut, left lung, loop, marginal layer, mesenchyme, midgut, naris, oesophagus, olfactory, penis, pharyngo-tympanic tube, rectum, respiratory, right lung, skeletal muscle, stomach, submandibular gland primordium, tongue, urethra, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|33926	OMIM|608452
EN-PFC1	GNAL	1.415150235	0	G protein	BrainSpLMD|2774;Eurexp|euxassay_009060|dorsal root ganglion, mantle layer, trigeminal V	OMIM|139312;HPO|2774|Autosomal dominant inheritance, Laryngeal dystonia, Limb dystonia, Lingual dystonia, Torticollis
EN-PFC1	CTNND2	1.405011161	0	Adhesion molecule	BrainSpLMD|1501;Eurexp|euxassay_018872|dorsal root ganglion, facial VII, neural retina, trigeminal V	SFARI||Autism, 2 - Strong candidate;OMIM|604275;COSMIC||prostae adenocarcinoma, GIST;HPO|1501|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
EN-PFC1	RORB	1.401095681	0	Transcription factor	BrainSpLMD|6096;Eurexp|euxassay_002725|diencephalon, dorsal grey horn, hindbrain, marginal layer, midbrain, neural retina, ventricular layer;BrainSpMouseDev|86335	OMIM|601972
EN-PFC1	NIN	1.400786158	0	Unclassified	BrainSpLMD|51199;Eurexp|euxassay_007733|mantle layer, marginal layer, olfactory, ventricular layer	OMIM|608684;COSMIC||MPN;HPO|51199|Autosomal recessive inheritance, Central hypothyroidism, Delayed skeletal maturation, Hip dysplasia, Hypoplasia of the uterus, Hypotelorism, Intellectual disability, severe, Intrauterine growth retardation, Lumbar scoliosis, Madelung deformity, Microcephaly, Microtia, Primary amenorrhea, Prominent nose, Seizures, Severe global developmental delay, Severe short stature
EN-PFC1	PCDH17	1.400693434	0	Adhesion molecule	BrainSpLMD|27253	OMIM|611760
EN-PFC1	RCAN1	1.396563531	0	Unclassified	BrainSpLMD|1827	OMIM|602917
EN-PFC1	PPM1L	1.395936023	0	Serine/threonine phosphatase	BrainSpLMD|151742;Eurexp|euxassay_008476|anterior, brain, cervical, cervico-thoracic, cornea, diaphragm, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, left lung, liver, midgut, neural retina, oesophagus, olfactory, paraxial mesenchyme, rest of mesenchyme, right lung, skeletal muscle, spinal cord, stomach, thoracic, thymus primordium, trachea, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|611931
EN-PFC1	SATB1	1.394606054	0	Transcription factor	BrainSpLMD|6304;Eurexp|euxassay_018001|cervical, cervico-thoracic, dorsal root ganglion, epidermis, facial VII, glossopharyngeal IX, marginal layer, neural retina, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|19993	OMIM|602075
EN-PFC1	HIVEP2	1.390181058	0	DNA binding protein	BrainSpLMD|3097;Eurexp|euxassay_008979|marginal layer, mesenchyme;BrainSpMouseDev|15048	OMIM|143054;HPO|3097|Abnormal facial shape, Anxiety, Autistic behavior, Autosomal dominant inheritance, Constipation, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hyperactivity, Impulsivity, Infantile onset, Intellectual disability, Narrow mouth, Prominent nasal bridge, Tapered finger, Wide nasal bridge
EN-PFC1	SNAP91	1.383335992	0	Adapter molecule	BrainSpLMD|9892;Eurexp|euxassay_000563|atrium, calyces, cervical, cervico-thoracic, choroid plexus, dorsal root ganglion, extraembryonic component, facial VII, foregut-midgut junction, glossopharyngeal IX, heart, hindgut, hindlimb, limb, mantle layer, marginal layer, mesenchyme, midgut, neural retina, olfactory, stomach, stroma, thoracic, trigeminal V, urethra, vagus X, ventricle, vertebral axis muscle system, vestibulocochlear VIII	OMIM|607923
EN-PFC1	PRKCB	1.376612522	0	Serine/threonine kinase	BrainSpLMD|5579;BrainSpMouseDev|18515	SFARI||Autism, 3 - Suggestive evidence;OMIM|176970;COSMIC||adult T-cell lymphoma-leukaemia
EN-PFC1	FAM196A	1.364147976	0	Unclassified		OMIM|617129
EN-PFC1	NAV2	1.351893467	0	DNA binding protein	BrainSpLMD|89797;Eurexp|euxassay_008549|incisor, mantle layer, marginal layer, molar, neural retina, skeletal muscle, submandibular gland primordium, thymus primordium, ventral grey horn, vertebral axis muscle system, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|607026
EN-PFC1	AC079233.1	1.340611937	0			
EN-PFC1	TP53I11	1.335021323	0	Unclassified	BrainSpLMD|9537;Eurexp|euxassay_011840|dorsal root ganglion, glossopharyngeal IX, neural retina, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|93222	
EN-PFC1	DAB1	1.301794035	0	Adapter molecule	BrainSpLMD|1600;Eurexp|euxassay_017879|basal columns, footplate, lip, mantle layer, maxilla, mesenchyme, naris, ventricular layer;BrainSpMouseDev|12911	SFARI||Autism, 5 - Hypothesized but untested;OMIM|603448;HPO|1600|Ataxia, Autosomal dominant inheritance, Dysarthria, Frequent falls, Slow progression, Unsteady gait
EN-PFC1	ATP2B1	1.300978656	0	ATPase	BrainSpLMD|490	OMIM|108731
EN-PFC1	USP6NL	1.300103075	0	GTPase activating protein	BrainSpLMD|9712	OMIM|605405
EN-PFC1	PRKACB	1.299834599	0	Serine/threonine kinase	BrainSpLMD|5567	OMIM|176892
EN-PFC1	SLC24A2	1.287125146	0	Membrane transport protein	BrainSpLMD|25769	SFARI||Autism, No category;OMIM|609838
EN-PFC1	DOK6	1.28278663	0	Adapter molecule	BrainSpLMD|220164;Eurexp|euxassay_013254|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, spinal cord, trigeminal V	OMIM|611402
EN-PFC1	EML1	1.281159052	0	Structural protein	BrainSpLMD|2009	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602033;HPO|2009|Agenesis of corpus callosum, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Intellectual disability, severe, Macrocephaly, Polymicrogyria, Seizures, Sleep disturbance, Spasticity
EN-PFC1	SLITRK5	1.265914242	0	Integral membrane protein	BrainSpLMD|26050	SFARI||Autism, No category;OMIM|609680
EN-PFC1	STT3B	1.254282463	0	Integral membrane protein	BrainSpLMD|201595	OMIM|608605;HPO|201595|Abnormal glycosylation, Autosomal recessive inheritance, Cerebellar atrophy, Congenital onset, Cryptorchidism, Death in childhood, Decreased liver function, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Microcephaly, Micropenis, Optic atrophy, Respiratory distress, Scrotal hypoplasia, Seizures, Thrombocytopenia
EN-PFC1	AFF3	1.241378735	0	Transcription factor	BrainSpLMD|3899;BrainSpMouseDev|16536	OMIM|601464;COSMIC||ALL, T-ALL
EN-PFC1	MTUS1	1.234797121	0	Growth inhibitory factor	BrainSpLMD|57509	OMIM|609589
EN-PFC1	SLITRK1	1.229150636	0	Integral membrane protein	BrainSpLMD|114798;Eurexp|euxassay_012158|axial skeleton, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, rib, skeletal muscle, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|52805	OMIM|609678;HPO|114798|Aggressive behavior, Alopecia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Echolalia, Hair-pulling, Motor tics, Multifactorial inheritance, Obsessive-compulsive behavior, Phonic tics, Self-mutilation, Sleep disturbance
EN-PFC1	SEL1L3	1.226134141	0	Integral membrane protein	BrainSpLMD|23231;Eurexp|euxassay_002775|basal plate, calyces, cerebral cortex, corpus striatum, cortex, dorsal root ganglion, ductus deferens, foregut-midgut junction, glossopharyngeal IX, hindgut, marginal layer, midgut, rectum, stomach, submandibular gland primordium, trigeminal V, urethra, vestibulocochlear VIII	
EN-PFC1	LINC00599	1.22592745	0			
EN-PFC1	SNAP25	1.225196379	0	Membrane transport protein	BrainSpLMD|6616;Eurexp|euxassay_015720|cervical, cervico-thoracic, dorsal root ganglion, extrinsic ocular muscle, facial VII, forebrain, glossopharyngeal IX, hindbrain, lip, midbrain, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|600322;HPO|6616|Areflexia, Ataxia, Autosomal dominant inheritance, Congenital onset, Decreased fetal movement, Difficulty walking, Dysarthria, Easy fatigability, Flexion contracture, Global developmental delay, Muscle weakness, Poor speech, Ptosis, Respiratory insufficiency
EN-PFC1	EFNA5	1.224659398	0	Ligand	BrainSpLMD|1946;BrainSpMouseDev|13418	OMIM|601535
EN-PFC1	DLG1	1.224440325	0	Cell junction protein	BrainSpLMD|1739;Eurexp|euxassay_005262|adrenal gland, lung	SFARI||Autism, No category;OMIM|601014
EN-PFC1	THSD7A	1.22436392	0	Unclassified	Eurexp|euxassay_013737|calyces, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, mesenchyme, midgut, neural retina, olfactory, stomach, thyroid, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612249
EN-PFC1	SOX5	1.216425874	0	Transcription factor	BrainSpLMD|6660;BrainSpMouseDev|20440	SFARI||Autism, No category;OMIM|604975;HPO|6660|2-3 toe syndactyly, Abnormality of brain morphology, Anxiety, Autosomal dominant inheritance, Bulbous nose, Clinodactyly, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Exaggerated median tongue furrow, Exotropia, Facial asymmetry, Frontal bossing, Generalized hypotonia, Global developmental delay, Hyperplasia of the maxilla, Intellectual disability, Low-set ears, Lumbar hyperlordosis, Motor delay, Muscular hypotonia, Myopia, Narrow palate, Open mouth, Optic atrophy, Pectus carinatum, Phenotypic variability, Posteriorly rotated ears, Scoliosis, Strabismus, Thoracic kyphoscoliosis, Vertebral fusion, Wide nasal bridge
EN-PFC1	SHISA2	1.21025878	0	Integral membrane protein	BrainSpLMD|387914	OMIM|617324
EN-PFC1	BAI3	1.208688623	0			
EN-PFC1	AKT3	1.19190635	0	Serine/threonine kinase	BrainSpLMD|10000;Eurexp|euxassay_006568|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611223;COSMIC||GBM;HPO|10000|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Cutis marmorata, Depressed nasal bridge, Hemimegalencephaly, High forehead, Hydrocephalus, Hyperextensible skin, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
EN-PFC1	CCSAP	1.190801635	0	Unclassified	BrainSpLMD|126731;Eurexp|euxassay_014272|olfactory, ventricular layer, vomeronasal organ	OMIM|616762
EN-PFC1	FAM49A	1.186762004	0	Unclassified	BrainSpLMD|81553;Eurexp|euxassay_007357|mantle layer	
EN-PFC1	SLC35F1	1.18336134	0	Integral membrane protein	Eurexp|euxassay_019705|dorsal root ganglion, embryo, glossopharyngeal IX, intermediate grey horn, mantle layer, rest of cerebellum, trigeminal V, ventral grey horn, ventricular layer	
EN-PFC1	NBEA	1.181988653	0	Anchor protein	BrainSpLMD|26960	SFARI||Autism, 4 - Minimal evidence;OMIM|604889;COSMIC||large intestine carcinoma, multiple myeloma
EN-PFC1	DYNC1I1	1.163431588	0	Motor protein	BrainSpLMD|1780;Eurexp|euxassay_006183|adrenal gland, cortex, diaphragm, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, mantle layer, marginal layer, ovary, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, tegmentum, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|603772
EN-PFC1	RBPJ	1.161982284	0	Transcription factor;Transcription regulatory protein	BrainSpLMD|3516;BrainSpMouseDev|19427	OMIM|147183;HPO|3516|2-3 toe syndactyly, Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aplasia cutis congenita, Autosomal dominant inheritance, Brachydactyly, Calvarial skull defect, Cataract, Cutis marmorata, Failure to thrive, Finger syndactyly, Hydrocephalus, Microcephaly, Microphthalmia, Pulmonary artery atresia, Short distal phalanx of finger, Short metatarsal, Sparse hair, Split hand, Strabismus, Talipes, Tetralogy of Fallot
EN-PFC1	PGM2L1	1.152093541	0	Enzyme: Mutase	BrainSpLMD|283209;Eurexp|euxassay_012530|brain, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611610
EN-PFC1	PLCB1	1.150200491	0	Enzyme: Phospholipase	BrainSpLMD|23236	SFARI||Autism, 3 - Suggestive evidence;OMIM|607120;HPO|23236|Abnormality of skin morphology, Autosomal recessive inheritance, Developmental regression, Epileptic encephalopathy, Focal seizures, Generalized seizures, Hyperreflexia, Hypsarrhythmia, Infantile spasms, Muscular hypotonia of the trunk, Myoclonus, Spasticity
EN-PFC1	APBA1	1.146926777	0	Adapter molecule	BrainSpLMD|320;Eurexp|euxassay_007658|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn;BrainSpMouseDev|106859	OMIM|602414
EN-PFC1	LPPR5	1.14561888	0			
EN-PFC1	DLG2	1.145265267	0	Cell junction protein	BrainSpLMD|1740;Eurexp|euxassay_011686|cervical, cervico-thoracic, dorsal root ganglion, mandible, mantle layer, marginal layer, maxilla, thoracic, trigeminal V, ventral grey horn	OMIM|603583
EN-PFC1	ARPP21	1.137776816	0		BrainSpLMD|10777;Eurexp|euxassay_008422|brain, diaphragm, dorsal grey horn, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, head mesenchyme, lip, mantle layer, marginal layer, mesenchyme, olfactory, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, spinal cord, tail, thymus primordium, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|605488
EN-PFC1	CSRNP3	1.129474757	0	Unclassified	BrainSpLMD|80034;Eurexp|euxassay_009789|brain, mantle layer, spinal cord, trigeminal V, ventricular layer	
EN-PFC1	BCL11B	1.127392664	0	Transcription regulatory protein;DNA binding protein	BrainSpLMD|64919;BrainSpMouseDev|37240	OMIM|606558;COSMIC||T-ALL;HPO|64919|Absent speech, Autosomal dominant inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hirsutism, Hypertelorism, Inflammatory abnormality of the skin, Intellectual disability, Micrognathia, Natal tooth, Pulmonary artery stenosis, Seizures, Severe combined immunodeficiency, Short palpebral fissure, Spastic tetraplegia, Umbilical hernia, Wormian bones
EN-PFC1	FGF12	1.123011969	0	Growth factor	BrainSpLMD|2257;BrainSpMouseDev|13944	OMIM|601513;HPO|2257|Absent speech, Autosomal dominant inheritance, Cerebellar atrophy, Chronic constipation, Developmental regression, Epileptic encephalopathy, Feeding difficulties, Hypsarrhythmia, Inability to walk, Limb ataxia, Multifocal epileptiform discharges, Muscular hypotonia of the trunk, Poor speech, Status epilepticus, Variable expressivity
EN-PFC1	AGAP1	1.099856125	0	GTPase activating protein	BrainSpLMD|116987;Eurexp|euxassay_015873|basal plate, cerebellum, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, medulla oblongata, molar, neural retina, olfactory, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, 4 - Minimal evidence;OMIM|608651
EN-PFC1	SIAH3	1.096742371	0	Unclassified	BrainSpLMD|283514	OMIM|615609
EN-PFC1	MED13L	1.090477253	0	Unclassified	BrainSpLMD|23389	SFARI||Autism, 2 - Strong candidate;OMIM|608771;HPO|23389|Ataxia, Autism, Autosomal dominant inheritance, Brachycephaly, Bulbous nose, Clinodactyly, Coloboma, Cryptorchidism, Depressed nasal bridge, Dysarthria, Everted lower lip vermilion, Frontal bossing, Generalized hypotonia, Global developmental delay, Hypertelorism, Incomplete penetrance, Infantile onset, Intellectual disability, moderate, Low-set ears, Macroglossia, Macrotia, Motor delay, Narrow forehead, Open mouth, Patent foramen ovale, Plagiocephaly, Poor speech, Prominent forehead, Recurrent infections, Round face, Short neck, Strabismus, Transposition of the great arteries, Triangular face, Upslanted palpebral fissure, Wide mouth
EN-PFC1	SYT1	1.085988399	0	Calcium binding protein	BrainSpLMD|6857;Eurexp|euxassay_018026|adrenal gland, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, epithelium, external, facial VII, foregut-midgut junction, glossopharyngeal IX, hindbrain, hindgut, incisor, limb, mantle layer, marginal layer, mesenchyme, midbrain, midgut, neural retina, oesophagus, olfactory, oral epithelium, pectoralis major, pectoralis minor, pituitary, retina, spinal cord, stomach, stroma, thoracic, tongue, trigeminal V, ureter, urethra, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|20740	OMIM|185605
EN-PFC1	DSEL	1.080832677	0	Enzyme: Sulphotransferase	BrainSpLMD|92126	OMIM|611125
EN-PFC1	SGIP1	1.08040864	0	Unclassified	BrainSpLMD|84251;Eurexp|euxassay_001827|brain, spinal cord, trigeminal V	OMIM|611540
EN-PFC1	ANK3	1.06799731	0	Adapter molecule	BrainSpLMD|288;BrainSpMouseDev|11522	SFARI||Autism, No category;OMIM|600465;HPO|288|Aggressive behavior, Autosomal recessive inheritance, Bruxism, Generalized hypotonia, Hyperactivity, Intellectual disability, Intellectual disability, moderate, Spasticity
EN-PFC1	DAAM1	1.067440689	0	Unclassified	BrainSpLMD|23002;BrainSpMouseDev|84026	OMIM|606626
EN-PFC1	CXADR	1.065370861	0	Cell surface receptor	BrainSpLMD|1525;Eurexp|euxassay_012371|bladder, cochlea, cortex, endolymphatic duct, epidermis, epithelium, facial VII, glossopharyngeal IX, incisor, larynx, left lung, mantle layer, marginal layer, meninges, mesothelium, metanephros, midgut, molar, neural retina, olfactory, oral epithelium, pancreas, pharyngo-tympanic tube, primitive seminiferous tubules, rectum, right lung, stomach, trachea, trigeminal V, urogenital mesentery, utricle, vagus X, vestibulocochlear VIII, vibrissa	OMIM|602621
EN-PFC1	SMARCA2	1.060278118	0	Transcription factor	BrainSpLMD|6595;Eurexp|euxassay_000790|cerebral cortex, mesenchyme	SFARI||Autism, No category;OMIM|600014;HPO|6595|Abnormal hair pattern, Abnormality of the metacarpal bones, Absence seizures, Absent eyebrow, Absent speech, Aggressive behavior, Alopecia, Anteverted nares, Aphasia, Autosomal dominant inheritance, Blepharophimosis, Brachydactyly, Broad distal phalanx of finger, Broad philtrum, Clubbing of toes, Cryptorchidism, Curly eyelashes, Dysphasia, Echolalia, Eczema, Epileptic spasms, Everted lower lip vermilion, Excessive wrinkled skin, Failure to thrive, Global developmental delay, High, narrow palate, Highly arched eyebrow, Hypotrichosis, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint dislocation, Long eyelashes, Long philtrum, Low anterior hairline, Microcephaly, Mutism, Narrow nasal bridge, Poor speech, Prominent interphalangeal joints, Sandal gap, Scoliosis, Seizures, Severe short stature, Short metacarpal, Short metatarsal, Short palm, Short palpebral fissure, Short phalanx of finger, Smooth philtrum, Sparse scalp hair, Specific learning disability, Status epilepticus, Thick lower lip vermilion, Thick nasal alae, Thin vermilion border, Triangular face, Wide intermamillary distance, Wide mouth, Wide nasal base
EN-PFC1	NFIA	1.059325619	0	Transcription factor	BrainSpLMD|4774;BrainSpMouseDev|17794	SFARI||Autism, 4 - Minimal evidence;OMIM|600727;HPO|4774|Agenesis of corpus callosum, Anteverted nares, Arnold-Chiari type I malformation, Broad face, Broad forehead, Cognitive impairment, Cutis marmorata, Generalized hypotonia, Global developmental delay, Hydronephrosis, Hypoplasia of the corpus callosum, Inguinal hernia, Intellectual disability, Low-set ears, Macrocephaly, Narrow mouth, Phenotypic variability, Renal hypoplasia, Seizures, Short chin, Short nose, Sporadic, Syringomyelia, Thin upper lip vermilion, Ventriculomegaly, Vesicoureteral reflux
EN-PFC1	LINGO1	1.057051003	0	Unclassified	BrainSpLMD|84894	OMIM|609791
EN-PFC1	ERC1	1.049424138	0	Regulatory/other subunit	BrainSpLMD|23085	OMIM|607127;COSMIC||papillary thyroid, Spitzoid tumour
EN-PFC1	KIAA1467	1.042669644	0			
EN-PFC1	ISLR2	1.031126362	0	Unclassified	BrainSpLMD|57611	OMIM|614179
EN-PFC1	SCG5	1.019776038	0	Chaperone	BrainSpLMD|6447;Eurexp|euxassay_007348|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, oesophagus, olfactory, pituitary, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20157	OMIM|173120
EN-PFC1	PCLO	1.01434599	0	Cytoskeletal protein	BrainSpLMD|27445;Eurexp|euxassay_009714|brain, cervical, cervico-thoracic, olfactory, spinal cord, thoracic;BrainSpMouseDev|26621	OMIM|604918;HPO|27445|Autosomal recessive inheritance, Brachycephaly, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy, Congenital onset, Decreased body weight, Depressed nasal bridge, Downturned corners of mouth, Full cheeks, Global developmental delay, Hearing impairment, High palate, High, narrow palate, Hyperreflexia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Long palpebral fissure, Long philtrum, Low-set ears, Macrotia, Muscular hypotonia of the trunk, Neonatal hypotonia, Optic atrophy, Poor head control, Progressive, Progressive microcephaly, Proptosis, Seizures, Short stature, Spasticity
EN-PFC1	NDRG1	1.013915116	0	Unclassified	BrainSpLMD|10397;Eurexp|euxassay_004423|anterior, dorsal root ganglion, external, mandible, marginal layer, meninges, mesenchyme, midgut, naris, nasal septum, olfactory, palatal shelf, pyloric region, rectum, upper jaw	OMIM|605262;COSMIC||prostate;HPO|10397|Abnormal auditory evoked potentials, Abnormality of the hand, Abnormality of visual evoked potentials, Areflexia, Autosomal recessive inheritance, Axonal loss, Decreased nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Gait disturbance, Hearing impairment, Hyporeflexia, Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material, Juvenile onset, Onion bulb formation, Segmental peripheral demyelination/remyelination, Talipes cavus equinovarus
EN-PFC1	CELF4	1.011142247	0	RNA binding protein	BrainSpLMD|56853;Eurexp|euxassay_009241|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|612679
EN-PFC1	DOCK4	0.997737551	0	GTPase activating protein	BrainSpLMD|9732	SFARI||Autism, No category;OMIM|607679
EN-PFC1	IGSF3	0.975504264	0	Integral membrane protein	BrainSpLMD|3321	OMIM|603491;HPO|3321|Autosomal dominant inheritance, Autosomal recessive inheritance, Dacryocystocele, Increased lacrimation, Lacrimal duct atresia
EN-PFC1	GLCE	0.971900529	0	Enzyme: Epimerase	BrainSpLMD|26035;Eurexp|euxassay_014583|lip	OMIM|612134
EN-PFC1	ITPK1	0.9706647	0	Enzyme: Phosphotransferase	BrainSpLMD|3705;Eurexp|euxassay_007834|dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, mesentery, midgut, trigeminal V, vagus X, vibrissa	OMIM|601838
EN-PFC1	NEUROD6	0.965244463	0	Transcription factor	BrainSpLMD|63974;Eurexp|euxassay_017889|inner ear, mantle layer, olfactory, olfactory lobe;BrainSpMouseDev|11708	OMIM|611513
EN-PFC1	BCL11A	0.943654431	0	DNA binding protein	BrainSpLMD|53335;Eurexp|euxassay_007892|dorsal grey horn, incisor, naris, olfactory, pharyngo-tympanic tube, submandibular gland primordium, vibrissa;BrainSpMouseDev|13802	SFARI||Autism, 2 - Strong candidate;OMIM|606557;COSMIC||B-CLL;HPO|53335|Autosomal dominant inheritance, Congenital onset, Cupped ear, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, Global developmental delay, Intellectual disability, Joint hypermobility, Low-set ears, Microcephaly, Midface retrusion, Overfolded helix, Retrognathia, Strabismus, Thin upper lip vermilion
EN-PFC1	TNIK	0.937914175	0	Serine/threonine kinase	BrainSpLMD|23043	OMIM|610005;HPO|23043|Autosomal recessive inheritance, Delayed speech and language development, Hyperactivity, Intellectual disability
EN-PFC1	RASAL2	0.925011779	0	GTPase	BrainSpLMD|9462;Eurexp|euxassay_014140|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, trigeminal V, turbinate bones, vagus X, ventricular layer, vomeronasal organ	OMIM|606136
EN-PFC1	MPPED1	0.924296905	0	Enzyme: Esterase	Eurexp|euxassay_009802|incisor, mantle layer, marginal layer, molar;BrainSpMouseDev|85966	OMIM|602112
EN-PFC1	DCC	0.923999846	0	Cell surface receptor	BrainSpLMD|1630;Eurexp|euxassay_009578|mantle layer, marginal layer, neural retina, ventricular layer;BrainSpMouseDev|12956	OMIM|120470;COSMIC||CRC, melanoma, SCC;HPO|1630|Autosomal dominant inheritance, Bimanual synkinesia, Hereditary nonpolyposis colorectal carcinoma, Incomplete penetrance, Neoplasm of the stomach, Renal cell carcinoma, Squamous cell carcinoma, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma
EN-PFC1	PEG3	0.921551072	0	Transcription factor	BrainSpLMD|5178	OMIM|601483
EN-PFC1	NUMB	0.91597067	0	Unclassified	BrainSpLMD|8650;Eurexp|euxassay_012553|ventricle;BrainSpMouseDev|17989	OMIM|603728
EN-PFC1	SSBP3	0.911523703	0	DNA binding protein	BrainSpLMD|23648	OMIM|607390
EN-PFC1	RIMS2	0.905462906	0	Unclassified	BrainSpLMD|9699	OMIM|606630
EN-PFC1	CADPS	0.905286107	0	Membrane transport protein	BrainSpLMD|8618;Eurexp|euxassay_006311|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral wall, mantle layer, meninges, neural retina, olfactory, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|604667
EN-PFC1	GPIHBP1	0.892811518	0	Unclassified	BrainSpLMD|338328	OMIM|612757;HPO|338328|Acute pancreatitis, Autosomal recessive inheritance, Episodic abdominal pain, Eruptive xanthomas, Failure to thrive, Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Hyperlipoproteinemia, Hypertriglyceridemia, Increased circulating chylomicron levels, Lipemia retinalis, Recurrent pancreatitis, Splenomegaly
EN-PFC1	LPPR1	0.879767231	0			
EN-PFC1	CACNA1E	0.877581816	0	Voltage gated channel	BrainSpLMD|777;Eurexp|euxassay_006436|dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|601013
EN-PFC1	MYT1L	0.871010759	0	Transcription factor	BrainSpLMD|23040;BrainSpMouseDev|17700	SFARI||Autism, 1 - High confidence;OMIM|613084;HPO|23040|Aggressive behavior, Autosomal dominant inheritance, Delayed speech and language development, Global developmental delay, Intellectual disability, Obesity
EN-PFC1	KIF3A	0.870557798	0	Motor protein	BrainSpLMD|11127	OMIM|604683
EN-PFC1	ARGLU1	0.862910608	0	Unclassified	BrainSpLMD|55082;Eurexp|euxassay_001755|choroid plexus, lateral recess	OMIM|614046
EN-PFC1	DACT1	0.860678966	0	Unclassified	BrainSpLMD|51339;Eurexp|euxassay_009577|aorta, associated mesenchyme, capsule, cartilaginous ring, cortex, mantle layer, medullary stroma, mesenchyme, mesentery, midgut, oesophagus;BrainSpMouseDev|37599	OMIM|607861;HPO|51339|Anal atresia, Anencephaly, Anteriorly placed anus, Autosomal dominant inheritance, Bifid uterus, Cervical spina bifida, Clinodactyly of the 5th finger, Constipation, Crossed fused renal ectopia, Cryptorchidism, Cupped ear, External ear malformation, Hearing impairment, Hypospadias, Microtia, Myelomeningocele, Overfolded helix, Pes planus, Preauricular skin tag, Preaxial hand polydactyly, Rectoperineal fistula, Rectovaginal fistula, Renal insufficiency, Scoliosis, Spina bifida occulta, Subcutaneous nodule, Toe clinodactyly, Triphalangeal thumb
EN-PFC1	ARHGEF12	0.842331948	0	Guanine nucleotide exchange factor	BrainSpLMD|23365	OMIM|604763;COSMIC||AML
EN-PFC1	ABRACL	0.839701021	0	Unclassified	BrainSpLMD|58527	
EN-PFC1	PBX1	0.832994551	0	Transcription regulatory protein	BrainSpLMD|5087;BrainSpMouseDev|18280	OMIM|176310;COSMIC||pre B-ALL, myoepithelioma
EN-PFC1	ITSN1	0.832885762	0	Adapter molecule	BrainSpLMD|6453;Eurexp|euxassay_003599|dorsal grey horn, marginal layer, ventricular layer;BrainSpMouseDev|16216	OMIM|602442
EN-PFC1	NELL2	0.829144028	0	Calcium binding protein	BrainSpLMD|4753;Eurexp|euxassay_010538|axial skeleton, brachial plexus, dorsal root ganglion, footplate, handplate, head mesenchyme, incisor, mantle layer, marginal layer, mesenchyme, mesentery, molar, neural retina, olfactory, paraxial mesenchyme, perioptic mesenchyme, peritoneal cavity, rib, ventricular layer	OMIM|602320
EN-PFC1	CADM1	0.814647859	0	Adhesion molecule	BrainSpLMD|23705;Eurexp|euxassay_014807|Meckel's cartilage, brain, cervical, cervico-thoracic, cochlea, cortex, dorsal root ganglion, facial VII, frontal bone primordium, glossopharyngeal IX, incisor, lung, molar, olfactory, orbito-sphenoid, pharyngo-tympanic tube, pituitary, spinal cord, submandibular gland primordium, thoracic, trachea, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|34014	SFARI||Autism, 4 - Minimal evidence;OMIM|605686
EN-PFC1	RTN1	0.801239573	0	Integral membrane protein	BrainSpLMD|6252;Eurexp|euxassay_003752|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, penis, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|600865
EN-PFC1	TANC2	0.799172732	0	Unclassified		SFARI||Autism, 4 - Minimal evidence;OMIM|615047
EN-PFC1	ARL6IP5	0.794309855	0	Unclassified	BrainSpLMD|10550	OMIM|605709
EN-PFC1	MAPT	0.78768939	0	Structural protein	BrainSpLMD|4137;Eurexp|euxassay_002990|calyces, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, hindgut, mantle layer, marginal layer, midbrain, midgut, neural retina, olfactory, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|17529	OMIM|157140;HPO|4137|Abnormal brain FDG positron emission tomography, Abnormal pyramidal signs, Abnormality of the cerebral white matter, Adult onset, Aggressive behavior, Akinesia, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apathy, Apraxia, Autosomal dominant inheritance, Axial dystonia, Blurred vision, Bradykinesia, Collectionism, Dementia, Depressivity, Diplopia, Disinhibition, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphagia, Dysphasia, EEG with continuous slow activity, Echolalia, Emotional blunting, Eyelid apraxia, Falls, Frontal lobe dementia, Frontolimbic dementia, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait imbalance, Gliosis, Grammar-specific speech disorder, Granulovacuolar degeneration, Heterogeneous, Hyperorality, Inappropriate behavior, Inappropriate laughter, Inappropriate sexual behavior, Irritability, Kyphoscoliosis, Lack of insight, Language impairment, Loss of speech, Memory impairment, Morphological abnormality of the pyramidal tract, Mutism, Neurofibrillary tangles, Neuronal loss in central nervous system, Ophthalmoparesis, Parkinsonism, Perseveration, Personality changes, Photophobia, Polyphagia, Poor speech, Primitive reflex, Restlessness, Restrictive behavior, Retrocollis, Rigidity, Spoken Word Recognition Deficit, Sporadic, Stereotypy, Supranuclear gaze palsy, Temporal cortical atrophy, Thickened nuchal skin fold, Tremor
EN-PFC1	KIDINS220	0.783598337	0	Integral membrane protein	Eurexp|euxassay_009418|brain, cervical, cervico-thoracic, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|615759;HPO|57498|Astigmatism, Autosomal dominant inheritance, Cerebral atrophy, Deeply set eye, Delayed myelination, Delayed speech and language development, Dilation of lateral ventricles, Esotropia, Full cheeks, Global developmental delay, Hypermetropia, Hyperreflexia, Infantile onset, Intellectual disability, Limb hypertonia, Muscular hypotonia of the trunk, Nystagmus, Prominent forehead, Reduced visual acuity, Spastic paraplegia
EN-PFC1	ZBTB18	0.781870277	0	Transcription regulatory protein	BrainSpLMD|10472	OMIM|608433;HPO|10472|Abnormality of the pinna, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Depressed nasal bridge, Epicanthus, Generalized hypotonia, Global developmental delay, Hypertelorism, Intellectual disability, Low-set ears, Microcephaly, Micrognathia, Prominent forehead, Round face, Seizures, Short stature, Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Variable expressivity
EN-PFC1	SSBP2	0.779103466	0	Transcription regulatory protein	BrainSpLMD|23635;Eurexp|euxassay_004775|adenohypophysis, brain, diencephalon, forelimb, glossopharyngeal IX, hindbrain, hindlimb, mantle layer, marginal layer, mesenchyme, midbrain, olfactory, spinal cord, tail, trigeminal V, vestibulocochlear VIII	OMIM|607389
EN-PFC1	RBFOX1	0.773402316	0		BrainSpLMD|54715;Eurexp|euxassay_013824|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, thoracic, trigeminal V	SFARI||Autism, 3 - Suggestive evidence;OMIM|605104
EN-PFC1	FMNL2	0.771241379	0	Unclassified	BrainSpLMD|114793	OMIM|616285
EN-PFC1	MLLT4	0.764575737	0			
EN-PFC1	NRXN1	0.75455118	0	Cell surface receptor	BrainSpLMD|9378;Eurexp|euxassay_005585|arm, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, leg, midbrain, neural retina, olfactory, oral epithelium, respiratory, spinal cord, thoracic, trigeminal V, trunk mesenchyme, vagus X, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17956	SFARI||Autism, 2 - Strong candidate;OMIM|600565;HPO|9378|Autosomal recessive inheritance, Constipation, Drooling, Epileptic encephalopathy, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Hyperventilation, Intellectual disability, severe, Protruding tongue, Pulmonic stenosis, Scoliosis, Strabismus, Wide mouth
EN-PFC1	GPM6A	0.753050483	0	Integral membrane protein	BrainSpLMD|2823;Eurexp|euxassay_005521|brain, diaphragm, epithelium, lip, mesenchyme, mesothelium, neural retina, olfactory, pericardial cavity, spinal cord, stroma	OMIM|601275
EN-PFC1	CD200	0.744073742	0	Cell surface receptor;Unclassified	BrainSpLMD|4345;Eurexp|euxassay_010522|anterior, aorta, basisphenoid bone, brain, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, mandible, maxilla, neural retina, orbito-sphenoid, radius, rib, scapula, spinal cord, thoracic, tibia, trigeminal V, turbinate bones, ulna, vagus X, vestibulocochlear VIII, vibrissa	OMIM|155970
EN-PFC1	NFIB	0.721480711	0	Transcription factor	BrainSpLMD|4781;BrainSpMouseDev|17795	OMIM|600728;COSMIC||adenoid cystic carcinoma, lipoma
EN-PFC1	FNBP1L	0.719873798	0	Cytoskeletal protein	BrainSpLMD|54874;Eurexp|euxassay_007867|diencephalon, dorsal root ganglion, glossopharyngeal IX, hindbrain, midbrain, neural retina, pituitary, spinal cord, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608848
EN-PFC1	RTN4	0.693465415	0	Integral membrane protein	BrainSpLMD|57142;Eurexp|euxassay_004344|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mesenchyme, neural retina, olfactory, stroma, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|604475
EN-PFC1	SRPK2	0.688253895	0	Serine/threonine kinase	BrainSpLMD|6733;Eurexp|euxassay_018943|brain, glossopharyngeal IX, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20579	OMIM|602980
EN-PFC1	NREP	0.671568849	0	Unclassified	BrainSpLMD|9315	OMIM|607332
EN-PFC1	LUC7L3	0.670293194	0	Transcription regulatory protein	BrainSpLMD|51747	OMIM|609434
EN-PFC1	ROBO1	0.669997099	0	Adhesion molecule	BrainSpLMD|6091;Eurexp|euxassay_009691|adrenal gland, extrinsic ocular muscle, incisor, lip, mandible, mantle layer, metanephros, metatarsus, midgut, molar, nasal septum, palatal shelf, penis, phalanx, tarsus, turbinate bones, ventral grey horn, vibrissa;BrainSpMouseDev|19639	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602430
EN-PFC1	PPP3CA	0.667599679	0	Serine/threonine phosphatase	BrainSpLMD|5530;Eurexp|euxassay_002802|dorsal root ganglion, glossopharyngeal IX, trigeminal V;BrainSpMouseDev|18818	OMIM|114105
EN-PFC1	KIFAP3	0.666022458	0	Transport/cargo protein	BrainSpLMD|22920;Eurexp|euxassay_012381|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, mesenchyme, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601836
EN-PFC1	SEMA3C	0.656210556	0	Ligand	BrainSpLMD|10512;BrainSpMouseDev|20111	OMIM|602645;HPO|10512|Abdominal pain, Aganglionic megacolon, Constipation, Intestinal obstruction, Nausea and vomiting, Weight loss
EN-PFC1	CALM1	0.642895379	0	Calcium binding protein	BrainSpLMD|801	OMIM|114180;HPO|801|Autosomal dominant inheritance, Cardiac arrest, Prolonged QT interval, Sudden death, Syncope, Ventricular tachycardia, Vertigo
EN-PFC1	CELF2	0.622855266	0	RNA binding protein	BrainSpLMD|10659;Eurexp|euxassay_015501|brain, spinal cord	OMIM|602538
EN-PFC1	MAP2	0.599346994	0	Cytoskeletal associated protein	BrainSpLMD|4133;Eurexp|euxassay_015099|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|17523	SFARI||Autism, 5 - Hypothesized but untested;OMIM|157130
EN-PFC1	STRBP	0.591721927	0	RNA binding protein	BrainSpLMD|55342;Eurexp|euxassay_012970|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|611138
EN-PFC1	LIMCH1	0.590471842	0	Unclassified	BrainSpLMD|22998	OMIM|617750
EN-PFC1	CPE	0.571853722	0	Carboxypeptidase	BrainSpLMD|1363	OMIM|114855
EN-PFC1	PTPRD	0.550229888	0	Receptor tyrosine phosphatase	BrainSpLMD|5789	OMIM|601598
EN-PFC1	GAP43	0.549290956	0	Growth factor	BrainSpLMD|2596;Eurexp|euxassay_002973|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, midgut, nasal capsule, olfactory, rectum, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|14208	SFARI||Autism, 5 - Hypothesized but untested;OMIM|162060
EN-PFC1	MEG3	0.548982628	0			OMIM|605636
EN-PFC1	PDE4D	0.536724356	0	Enzyme: Phosphodiesterase	BrainSpLMD|5144	OMIM|600129;HPO|5144|Abnormal form of the vertebral bodies, Abnormality of female external genitalia, Abnormality of immune system physiology, Abnormality of the nail, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Anteverted nares, Autism, Autosomal dominant inheritance, Blue irides, Brachycephaly, Brachydactyly, Cerebral venous thrombosis, Cone-shaped epiphysis, Congenital craniofacial dysostosis, Congenital hypothyroidism, Congenital onset, Cryptorchidism, Delayed eruption of teeth, Delayed speech and language development, Depressed nasal bridge, Depressed nasal ridge, Diabetes mellitus, Elevated calcitonin, Elevated circulating parathyroid hormone level, Epiphyseal stippling, Fair hair, Global developmental delay, Growth hormone deficiency, Hearing impairment, Hyperactivity, Hyperphosphatemia, Hypertelorism, Hypocalcemia, Hypogonadism, Hypoplasia of the maxilla, Hypoplasia of the nasal bone, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic vertebral bodies, Hypospadias, Increased intracranial pressure, Intellectual disability, Intrauterine growth retardation, Malar flattening, Mandibular prognathia, Micromelia, Midface retrusion, Mild short stature, Narrow vertebral interpedicular distance, Obesity, Open mouth, Peripheral neuropathy, Pseudohypoparathyroidism, Red hair, Round face, Scoliosis, Short metacarpal, Short metatarsal, Short nose, Short phalanx of finger, Short stature, Short toe, Specific learning disability, Spinal canal stenosis, Wide nasal bridge
EN-PFC1	NPEPPS	0.53266974	0	Aminopeptidase	BrainSpLMD|9520;Eurexp|euxassay_011604|dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, midgut, neural retina, submandibular gland primordium, trigeminal V, urethra, vestibulocochlear VIII, vibrissa	OMIM|606793
EN-PFC1	FAM65B	0.527741153	0			
EN-PFC1	FAM171B	0.51071653	0	Integral membrane protein	BrainSpLMD|165215;Eurexp|euxassay_008581|dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, ventricular layer, vestibulocochlear VIII	
EN-PFC1	L1CAM	0.490108433	0	Adhesion molecule	BrainSpLMD|3897;Eurexp|euxassay_016867|alar columns, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vagus X, ventral grey horn, ventricle, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|16500	OMIM|308840;HPO|3897|Abnormal facial shape, Absent septum pellucidum, Adducted thumb, Aganglionic megacolon, Agenesis of corpus callosum, Aphasia, Aqueductal stenosis, Camptodactyly of finger, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Corticospinal tract hypoplasia, Delayed speech and language development, Flexion contracture of thumb, Gait disturbance, Hand clenching, Hemiplegia/hemiparesis, Hydrocephalus, Hyperlordosis, Hyperreflexia, Increased intracranial pressure, Inferior vermis hypoplasia, Intellectual disability, Intellectual disability, severe, Kyphosis, Macrocephaly, Microcephaly, Muscle weakness, Partial agenesis of the corpus callosum, Pes cavus, Seizures, Short stature, Shuffling gait, Spastic paraplegia, Spasticity, Strabismus, Talipes equinovarus, Ventriculomegaly, X-linked recessive inheritance
EN-PFC1	SPTAN1	0.485083296	0	Cytoskeletal protein;Structural protein	BrainSpLMD|6709;Eurexp|euxassay_012194|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lens, mantle layer, midgut, neural retina, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|182810;HPO|6709|Abnormality of skin morphology, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Developmental regression, Epileptic encephalopathy, Generalized hypotonia, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, profound, Intellectual disability, severe, Myoclonus, Progressive microcephaly, Seizures, Spastic tetraplegia, Variable expressivity
EN-PFC1	PTPRZ1	0.481733272	0	Receptor tyrosine phosphatase	BrainSpLMD|5803;BrainSpMouseDev|19046	OMIM|176891
EN-PFC1	KIAA1598	0.465810526	0			
EN-PFC1	WIPF3	0.461559566	0	Cytoskeletal associated protein	BrainSpLMD|644150	OMIM|612432
EN-PFC1	SEZ6	0.434465989	0	Integral membrane protein	BrainSpLMD|124925	OMIM|616666
EN-PFC1	SLA	0.424769328	0	Adapter molecule	BrainSpLMD|6503	OMIM|601099
EN-PFC1	BEX2	0.406042881	0	Unclassified	BrainSpLMD|84707;Eurexp|euxassay_006276|bladder, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, lumen, mesenchyme, skeletal muscle, thoracic, trigeminal V, vertebral axis muscle system	OMIM|300691
EN-PFC1	RP11.120I21.3	0.389315382	0			
EN-PFC1	LPHN3	0.375487421	0			
EN-PFC1	MAP1B	0.355661574	0	Cytoskeletal associated protein	BrainSpLMD|4131;Eurexp|euxassay_009367|brain, facial VII, glossopharyngeal IX, olfactory, peripheral nervous system, retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|157129
EN-PFC1	PTEN	0.349905812	0	Lipid phosphatase	BrainSpLMD|5728;BrainSpMouseDev|18974	SFARI||Autism, 1 - High confidence;OMIM|601728;COSMIC||glioma, prostate, endometrial, harmartoma, glioma, prostate, endometrial;HPO|5728|Abnormal form of the vertebral bodies, Abnormal heart morphology, Abnormal lung lobation, Abnormal subcutaneous fat tissue distribution, Abnormal vertebral morphology, Abnormality of metabolism/homeostasis, Abnormality of the eye, Abnormality of the fallopian tube, Abnormality of the large intestine, Abnormality of the parathyroid gland, Abnormality of the penis, Abnormality of the pupil, Abnormality of the vasculature, Abnormally prominent line of Schwalbe, Absent thumb, Acanthosis nigricans, Acrokeratosis, Adenoma sebaceum, Adult onset, Amblyopia, Anal atresia, Angioid streaks of the retina, Angiokeratoma, Aqueductal stenosis, Arteriovenous malformation, Asymmetry of the thorax, Ataxia, Atypical nevi in non-sun exposed areas, Atypical nevus, Autism, Autosomal dominant inheritance, Autosomal recessive inheritance, Biparietal narrowing, Birth length greater than 97th percentile, Breast carcinoma, Broad forehead, Bronchogenic cyst, Cachexia, Cafe-au-lait spot, Calvarial hyperostosis, Capillary hemangiomas, Cataract, Cavernous hemangioma, Cognitive impairment, Colonic diverticula, Colorectal polyposis, Communicating hydrocephalus, Conjunctival hamartoma, Cranial nerve paralysis, Cutaneous melanoma, Decreased muscle mass, Delayed gross motor development, Delayed speech and language development, Depressed nasal bridge, Disproportionate tall stature, Dolichocephaly, Downslanted palpebral fissures, Endometrial carcinoma, Enlarged cerebellum, Epibulbar dermoid, Epidermal nevus, Excessive wrinkled skin, Exostoses, Fibroadenoma of the breast, Finger syndactyly, Follicular thyroid carcinoma, Frontal bossing, Furrowed tongue, Generalized hyperkeratosis, Generalized hypotonia, Genu recurvatum, Global developmental delay, Goiter, Gynecomastia, Hamartomatous polyposis, Hand polydactyly, Hashimoto thyroiditis, Headache, Hearing impairment, Hemangioma, Hematochezia, Heterochromia iridis, High palate, Hydrocele testis, Hydrocephalus, Hyperostosis, Hypertelorism, Hyperthyroidism, Hypoglycemia, Hypoplasia of the maxilla, Hypothyroidism, Increased intracranial pressure, Intellectual disability, Intellectual disability, mild, Intention tremor, Intestinal polyposis, Intraocular melanoma, Intussusception, Irregular hyperpigmentation, Joint hypermobility, Juvenile onset, Kyphosis, Lipoma, Long penis, Long philtrum, Lower limb asymmetry, Lymphangioma, Lymphedema, Macrocephaly, Macrodactyly, Macroglossia, Macrotia, Macule, Mandibular prognathia, Melanocytic nevus, Meningioma, Micrognathia, Mucosal telangiectasiae, Multiple cafe-au-lait spots, Multiple lipomas, Myopathy, Myopia, Narrow mouth, Nausea and vomiting, Neoplasm of the breast, Neoplasm of the thyroid gland, Nevus, Non-medullary thyroid carcinoma, Numerous nevi, Obesity, Open bite, Ovarian cyst, Ovarian neoplasm, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Papilloma, Papule, Pectus excavatum, Polymicrogyria, Postnatal growth retardation, Postnatal macrocephaly, Primary peritoneal carcinoma, Progressive macrocephaly, Pseudopapilledema, Pulmonary embolism, Radial club hand, Reduced bone mineral density, Renal hypoplasia, Respiratory failure, Retinal detachment, Round face, Scoliosis, Seizures, Shagreen patch, Short nose, Short stature, Skeletal dysplasia, Skin tags, Squamous cell carcinoma, Stillbirth, Strabismus, Subcutaneous hemorrhage, Subcutaneous lipoma, Subcutaneous nodule, Supernumerary nipple, Thick corpus callosum, Thrombophlebitis, Thyroid adenoma, Thyroiditis, Transitional cell carcinoma of the bladder, Trichilemmoma, Upper limb asymmetry, Varicocele, Vascular skin abnormality, Venous insufficiency, Visceral angiomatosis
EN-PFC1	PPP2R2C	0.348149861	0	Serine/threonine phosphatase	BrainSpLMD|5522	OMIM|605997
EN-PFC1	GNAO1	0.340115232	0	G protein	BrainSpLMD|2775;Eurexp|euxassay_018084|atrium, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, pituitary, spinal cord, stomach, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|139311;HPO|2775|Absent speech, Autosomal dominant inheritance, Cerebral atrophy, Delayed myelination, Epileptic encephalopathy, Generalized tonic seizures, Global developmental delay, Hypoplasia of the corpus callosum, Hypsarrhythmia
EN-PFC1	SCN3B	0.3258296	0	Voltage gated channel	BrainSpLMD|55800;Eurexp|euxassay_012281|cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, midgut, neural retina, olfactory, skeletal muscle, stomach, thoracic, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|608214;HPO|55800|Atrial flutter, Autosomal dominant inheritance, ST segment elevation
EN-PFC1	SATB2	0.289105245	0	Transcription regulatory protein	BrainSpLMD|23314;Eurexp|euxassay_018949|axial skeleton, clavicle, femur, fibula, humerus, intermediate grey horn, laryngeal, larynx, mandible, mantle layer, maxilla, mesenchyme, orbito-sphenoid, palatal shelf, pelvic girdle, rib, scapula, shoulder, tibia;BrainSpMouseDev|84457	SFARI||Autism, 4 - Minimal evidence;OMIM|608148;HPO|23314|Aggressive behavior, Arachnodactyly, Autosomal dominant inheritance, Broad-based gait, Bulbous nose, Camptodactyly, Cleft palate, Conical tooth, Delayed speech and language development, Dental crowding, Downslanted palpebral fissures, Feeding difficulties, Fine hair, Frontal bossing, Global developmental delay, Happy demeanor, High forehead, High palate, Hyperactivity, Inguinal hernia, Intellectual disability, Intellectual disability, severe, Long face, Long nose, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Midface retrusion, Muscular hypotonia, Nail dysplasia, Narrow mouth, Narrow nose, Oligodontia, Prominent nasal bridge, Seizures, Short stature, Smooth philtrum, Sparse hair, Talipes equinovarus, Thin skin, Thin vermilion border
EN-PFC1	STMN1	0.254986803	0	Structural protein	BrainSpLMD|3925;Eurexp|euxassay_008627|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|151442
EN-PFC1	AKAP9	0.253068463	0	Adapter molecule	BrainSpLMD|10142;Eurexp|euxassay_007743|embryo	SFARI||Autism, 3 - Suggestive evidence;OMIM|604001;COSMIC||papillary thyroid;HPO|10142|Autosomal dominant inheritance, Prolonged QT interval, Syncope
EN-PFC1	DAB1.AS1	2.312644539	1.11E-16			
EN-PFC1	FRMD3	1.543928294	1.11E-16	Structural protein	BrainSpLMD|257019	OMIM|607619
EN-PFC1	KIAA1244	1.367010469	1.11E-16			
EN-PFC1	RAP2A	1.152744864	1.11E-16	GTPase	BrainSpLMD|5911	OMIM|179540
EN-PFC1	TMEM108.AS1	0.991760465	1.11E-16			
EN-PFC1	GABRB3	0.980094038	1.11E-16	Extracellular ligand gated channel	BrainSpLMD|2562;Eurexp|euxassay_008367|brain, facial VII, glossopharyngeal IX, mandible, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|14178	SFARI||Autism, 2 - Strong candidate;OMIM|137192;HPO|2562|Abnormality of brainstem morphology, Aggressive behavior, Ataxia, Atonic seizures, Atypical absence seizures, Autistic behavior, Autosomal dominant inheritance, Dyskinesia, EEG with focal sharp slow waves, Encephalopathy, Epileptic encephalopathy, Falls, Generalized hypotonia, Generalized tonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Hyperactivity, Infantile onset, Intellectual disability, Mental deterioration, Myoclonus, Personality disorder, Seizures
EN-PFC1	PWAR6	0.919496591	1.11E-16			
EN-PFC1	FAM117B	0.775674521	1.11E-16	Unclassified	BrainSpLMD|150864	
EN-PFC1	NAV3	0.68964694	1.11E-16	Unclassified	BrainSpLMD|89795	OMIM|611629
EN-PFC1	SYT14	0.687323672	1.11E-16	Membrane transport protein	BrainSpLMD|255928	OMIM|610949;HPO|255928|Autosomal recessive inheritance, Cerebellar atrophy, Dysarthria, Global developmental delay, Impaired smooth pursuit, Limb ataxia, Slow progression, Truncal ataxia
EN-PFC1	AUTS2	0.437307989	1.11E-16	Unclassified	BrainSpLMD|26053	SFARI||Autism, 3 - Suggestive evidence;OMIM|607270;HPO|26053|Abnormal facial shape, Arthrogryposis multiplex congenita, Autism, Autosomal dominant inheritance, Brachycephaly, Cerebral palsy, Decreased palmar creases, Delayed speech and language development, Downslanted palpebral fissures, Feeding difficulties, Global developmental delay, Highly arched eyebrow, Hypertelorism, Intellectual disability, Kyphosis, Low-set ears, Microcephaly, Narrow mouth, Prominent nasal tip, Ptosis, Scoliosis, Short palpebral fissure, Short philtrum, Short stature, Small for gestational age, Strabismus, Thick eyebrow, Wide nasal base
EN-PFC1	SOCS2	2.373763905	2.22E-16	Adapter molecule	BrainSpLMD|8835	OMIM|605117
EN-PFC1	KCNN2	2.092371082	2.22E-16	Intracellular ligand gated channel	BrainSpLMD|3781;BrainSpMouseDev|79905	OMIM|605879
EN-PFC1	KIAA1644	1.212979988	2.22E-16			
EN-PFC1	TMEM108	1.11322664	2.22E-16	Unclassified	BrainSpLMD|66000;Eurexp|euxassay_002435|choroid plexus, lateral recess, marginal layer	OMIM|617361
EN-PFC1	SERINC1	0.505375598	2.22E-16	Integral membrane protein	BrainSpLMD|57515;Eurexp|euxassay_003005|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614548
EN-PFC1	SPOCK3	2.240943902	3.33E-16	Extracellular matrix protein	BrainSpLMD|50859	OMIM|607989
EN-PFC1	FAM155A	0.950186304	3.33E-16	Unclassified	Eurexp|euxassay_010352|brain, spinal cord	
EN-PFC1	UNC13C	2.201646547	4.44E-16	Calcium binding protein	Eurexp|euxassay_011488|axial skeleton, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, molar, olfactory, stomach	OMIM|614568
EN-PFC1	PCDH9	0.730711593	4.44E-16	Adhesion molecule	BrainSpLMD|5101;Eurexp|euxassay_014258|facial VII, mantle layer, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|603581
EN-PFC1	KIF5A	0.318529091	4.44E-16	Motor protein	BrainSpLMD|3798;Eurexp|euxassay_018169|Meckel's cartilage, axial skeleton, basioccipital bone, brain, cervical, cervico-thoracic, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, olfactory, orbito-sphenoid, pelvic girdle, radius, rib, scapula, spinal cord, temporal bone, thoracic, tibia, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|602821;HPO|3798|Ankle clonus, Athetosis, Autosomal dominant inheritance, Babinski sign, Chorea, Congenital onset, Cortical visual impairment, Delayed myelination, Developmental stagnation, Distal sensory impairment, Dysphagia, Feeding difficulties, Generalized hypotonia, Hyperreflexia, Impaired vibration sensation in the lower limbs, Knee clonus, Lower limb muscle weakness, Microcephaly, Nystagmus, Pes cavus, Phenotypic variability, Progressive, Progressive leukoencephalopathy, Ptosis, Scoliosis, Spastic gait, Spastic paraplegia, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
EN-PFC1	AC004158.3	0.909601973	5.55E-16			
EN-PFC1	SCN3A	0.713535355	5.55E-16	Voltage gated channel	BrainSpLMD|6328	OMIM|182391
EN-PFC1	CHPT1	1.458785524	6.66E-16	Enzyme: Phosphotransferase	BrainSpLMD|56994;Eurexp|euxassay_012600|midgut	OMIM|616747
EN-PFC1	COMMD3	0.715658988	6.66E-16	Unclassified	BrainSpLMD|23412;Eurexp|euxassay_003440|pancreas, submandibular gland primordium	OMIM|616700
EN-PFC1	MGLL	1.815097052	7.77E-16	Enzyme: Lipase	BrainSpLMD|11343;Eurexp|euxassay_002003|Meckel's cartilage, dorsal grey horn, dorsal root ganglion, foregut-midgut junction, hindgut, lobe, mantle layer, marginal layer, midgut, oesophagus, pancreas, stomach, ventricular layer, vibrissa	OMIM|609699
EN-PFC1	PLCL2	1.366262919	7.77E-16	Unclassified	BrainSpLMD|23228	OMIM|614276
EN-PFC1	SRCIN1	1.220738657	7.77E-16	Unclassified	BrainSpLMD|80725	OMIM|610786
EN-PFC1	DNM3OS	0.732751464	7.77E-16			
EN-PFC1	TUBB4A	0.57529936	7.77E-16	Cytoskeletal protein	BrainSpLMD|10382;Eurexp|euxassay_018005|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602662
EN-PFC1	PHACTR1	0.28729453	8.88E-16	Enzyme regulator		OMIM|608723
EN-PFC1	DAP	1.233716539	1.22E-15	Unclassified	BrainSpLMD|1611;Eurexp|euxassay_008199|clavicle, femur, mandible, maxilla, nucleus pulposus, orbito-sphenoid, pancreas, rib, turbinate	OMIM|600954
EN-PFC1	PITPNC1	1.205990404	1.22E-15	Transport/cargo protein	BrainSpLMD|26207	OMIM|605134
EN-PFC1	B3GALT2	1.158400854	1.22E-15	Enzyme: Galactosyltransferase	BrainSpLMD|8707;Eurexp|euxassay_011551|axial skeleton, diaphragm, footplate, mantle layer, marginal layer, neural retina, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|26624	OMIM|603018
EN-PFC1	ATP1A3	1.379198335	1.33E-15	Transport/cargo protein	BrainSpLMD|478	SFARI||Autism, No category;OMIM|182350;HPO|478|Anxiety, Areflexia, Ataxia, Autosomal dominant inheritance, Blindness, Bradykinesia, Choreoathetosis, Depressivity, Drooling, Dysarthria, Dysmetria, Dysphagia, Dystonia, Emotional lability, Episodic ataxia, Episodic generalized hypotonia, Episodic quadriplegia, Gait ataxia, Global developmental delay, Hemiparesis, Hemiplegia, Hypomimic face, Incomplete penetrance, Intellectual disability, Mental deterioration, Muscle weakness, Mutism, Nystagmus, Optic atrophy, Parkinsonism, Pes cavus, Postural instability, Progressive sensorineural hearing impairment, Progressive visual loss, Status epilepticus, Torticollis, Truncal ataxia, Unsteady gait, Young adult onset
EN-PFC1	ST3GAL1	1.326021889	1.33E-15	Enzyme: Sialyltransferase	BrainSpLMD|6482;Eurexp|euxassay_010981|mandible, mantle layer, sternum, vibrissa	OMIM|607187
EN-PFC1	BACH2	1.02971967	1.33E-15	Transcription factor	BrainSpLMD|60468;Eurexp|euxassay_002436|dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vibrissa;BrainSpMouseDev|11800	OMIM|605394
EN-PFC1	MSRA	0.579266278	1.33E-15	Enzyme: Reductase	BrainSpLMD|4482	OMIM|601250
EN-PFC1	TMEM159	0.765947452	1.44E-15	Unclassified	BrainSpLMD|57146	OMIM|611304
EN-PFC1	DCLK1	0.53043196	2.00E-15	Serine/threonine kinase	BrainSpLMD|9201;Eurexp|euxassay_018536|floor plate, floorplate, mantle layer, ventral grey horn, ventricular layer	OMIM|604742
EN-PFC1	SLIT1	1.335911249	2.11E-15	Ligand	BrainSpLMD|6585;BrainSpMouseDev|20324	OMIM|603742
EN-PFC1	PAPPA2	2.255609823	2.22E-15	Metallo protease	BrainSpLMD|60676;Eurexp|euxassay_019547|adrenal gland, clavicle, dorsal root ganglion, glossopharyngeal IX, incisor, mandible, mantle layer, molar, trigeminal V;BrainSpMouseDev|23603	
EN-PFC1	TMC2	1.627498259	2.33E-15	Integral membrane protein	BrainSpLMD|117532	OMIM|606707
EN-PFC1	ASXL3	0.744101555	2.33E-15	Unclassified		SFARI||Autism, 1 - High confidence;OMIM|615115;HPO|80816|Anteverted nares, Feeding difficulties, Highly arched eyebrow, Severe global developmental delay, Severe postnatal growth retardation
EN-PFC1	DSCAM	1.058693324	2.55E-15	Adhesion molecule	BrainSpLMD|1826	SFARI||Autism, 1 - High confidence;OMIM|602523
EN-PFC1	IQCA1	2.310853964	2.66E-15	Unclassified	BrainSpLMD|79781	
EN-PFC1	NDFIP1	1.171946344	3.00E-15	Adapter molecule	BrainSpLMD|80762;Eurexp|euxassay_010361|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, maxilla, midgut, neural retina, rib, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612050
EN-PFC1	RABGAP1L	0.902519063	3.33E-15	GTPase activating protein	BrainSpLMD|9910	OMIM|609238
EN-PFC1	ZMYND8	0.422507501	3.33E-15	Transcription regulatory protein	BrainSpLMD|23613	OMIM|615713
EN-PFC1	CADM3	0.744594311	3.55E-15	Immunoglobulin	BrainSpLMD|57863;Eurexp|euxassay_014341|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|60961	OMIM|609743
EN-PFC1	DPY19L2	1.35182085	3.66E-15	Unclassified	BrainSpLMD|283417	OMIM|613893;HPO|283417|Autosomal recessive inheritance, Globozoospermia
EN-PFC1	PTPRO	0.950366454	3.89E-15	Receptor tyrosine phosphatase	BrainSpLMD|5800;Eurexp|euxassay_000528|cerebral cortex, corpus striatum, hypothalamus, lateral wall, marginal layer, olfactory cortex, testis	OMIM|600579;HPO|5800|Autosomal recessive inheritance, Edema, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Variable expressivity
EN-PFC1	SLC29A4	0.580607711	4.11E-15	Membrane transport protein	BrainSpLMD|222962;Eurexp|euxassay_015715|choroid plexus;BrainSpMouseDev|89066	SFARI||Autism, No category;OMIM|609149
EN-PFC1	DISP2	0.728546748	4.66E-15	Integral membrane protein	BrainSpLMD|85455;Eurexp|euxassay_009571|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, neural retina, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607503
EN-PFC1	YWHAB	0.587473961	4.66E-15	Adapter molecule	BrainSpLMD|7529;Eurexp|euxassay_012917|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn	OMIM|601289
EN-PFC1	TMEM35	0.691980153	4.77E-15			
EN-PFC1	TCEAL2	0.883681669	5.66E-15	Transcription regulatory protein	BrainSpLMD|140597	
EN-PFC1	PDE8B	1.122148621	7.88E-15	Enzyme: Phosphodiesterase	BrainSpLMD|8622;Eurexp|euxassay_003225|adrenal gland, anterior, calyces, dermis, dorsal grey horn, mesenchyme, pancreas, posterior, skin, turbinate bones, ventral grey horn	OMIM|603390;HPO|8622|Adrenal hyperplasia, Autosomal dominant inheritance, Bradykinesia, Degeneration of the striatum, Diabetes mellitus, Dysarthria, Dysdiadochokinesis, Dysphagia, Fatigue, Gait disturbance, Hypertension, Hypogonadism, Hypokinesia, Increased circulating cortisol level, Increased susceptibility to fractures, Lower limb hyperreflexia, Muscle weakness, Osteoporosis, Pigmented micronodular adrenocortical disease, Rigidity, Short stature, Skeletal muscle atrophy, Slender build, Slow progression, Striae distensae, Symmetric lesions of the basal ganglia, Thin skin
EN-PFC1	KCNJ3	1.70219043	7.99E-15	Inward rectifier channel	BrainSpLMD|3760	OMIM|601534
EN-PFC1	CBWD5	0.788224518	9.10E-15	Unclassified		
EN-PFC1	EPB41L1	0.796173206	9.33E-15	Cytoskeletal associated protein	BrainSpLMD|2036;Eurexp|euxassay_016807|arm, cortex, cranium, dermis, glossopharyngeal IX, head mesenchyme, hindgut, incisor, left lung, leg, loop, lumen, mandible, mantle layer, marginal layer, maxilla, mesenchyme, midgut, phalanx, right lung, stomach, trachea, trigeminal V, ventral grey horn, vertebral axis muscle system	OMIM|602879;HPO|2036|Autosomal dominant inheritance
EN-PFC1	CEP290	0.323653108	9.55E-15		BrainSpLMD|80184	SFARI||Autism, No category;OMIM|610142;HPO|80184|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the nervous system, Abnormality of the optic disc, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar vermis, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Atrial septal defect, Autistic behavior, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Blindness, Cataract, Central apnea, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cleft palate, Congenital blindness, Congenital hepatic fibrosis, Cryptorchidism, Dandy-Walker malformation, Depressed nasal ridge, Encephalocele, Episodic tachypnea, Full cheeks, Generalized hypotonia, Global developmental delay, Hemiplegia/hemiparesis, Hypertelorism, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the ovary, Hyposmia, Impaired renal concentrating ability, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Keratoconus, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nephropathy, Nystagmus, Obesity, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Pigmentary retinopathy, Postaxial foot polydactyly, Postaxial hand polydactyly, Premature ovarian insufficiency, Progressive visual loss, Ptosis, Reduced visual acuity, Renal cortical cysts, Renal cyst, Retinal coloboma, Retinal dystrophy, Rod-cone dystrophy, Sclerocornea, Seizures, Severe visual impairment, Short stature, Sloping forehead, Stage 5 chronic kidney disease, Tachypnea, Talipes, Tapetoretinal degeneration, Thickened superior cerebellar peduncle, Ventricular septal defect, Visual impairment
EN-PFC1	MLLT4.AS1	1.102339928	9.66E-15			
EN-PFC1	SESN3	0.863610966	9.77E-15	Cell cycle control protein	BrainSpLMD|143686	OMIM|607768
EN-PFC1	GNPTAB	0.528109905	1.22E-14	Calcium binding protein	BrainSpLMD|79158	OMIM|607840;HPO|79158|Abnormality of nervous system morphology, Abnormality of the rib cage, Abnormality of the thorax, Anteverted nares, Aortic regurgitation, Atlantoaxial dislocation, Autosomal recessive inheritance, Beaking of vertebral bodies T12-L3, Broad ribs, Bullet-shaped phalanges of the hand, Cardiomegaly, Carpal bone hypoplasia, Cavernous hemangioma, Coarse facial features, Congestive heart failure, Constrictive median neuropathy, Corneal erosion, Craniosynostosis, Death in childhood, Deficiency of N-acetylglucosamine-1-phosphotransferase, Depressed nasal bridge, Diastasis recti, Dysostosis multiplex, Epicanthus, Failure to thrive, Flared iliac wings, Flat acetabular roof, Generalized hirsutism, Heart murmur, Hepatomegaly, Hernia, High forehead, Hip dislocation, Hoarse voice, Hyperopic astigmatism, Hypertrophic cardiomyopathy, Hypoplasia of the odontoid process, Hypoplastic scapulae, Increased serum beta-hexosaminidase, Increased serum iduronate sulfatase activity, Inguinal hernia, Intellectual disability, Irregular carpal bones, J-shaped sella turcica, Lack of skin elasticity, Large sella turcica, Long philtrum, Lower thoracic interpediculate narrowness, Macroglossia, Mandibular prognathia, Megalocornea, Metaphyseal widening, Mucopolysacchariduria, Myelopathy, Narrow forehead, Neonatal hypotonia, Opacification of the corneal stroma, Osteopenia, Ovoid vertebral bodies, Palpebral edema, Pathologic fracture, Progressive alveolar ridge hypertropy, Protuberant abdomen, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia, Retinal degeneration, Scoliosis, Severe global developmental delay, Severe postnatal growth retardation, Shallow acetabular fossae, Short long bone, Short ribs, Short stature, Soft tissue swelling of interphalangeal joints, Sparse and thin eyebrow, Specific learning disability, Splenomegaly, Split hand, Talipes equinovarus, Thickened calvaria, Thickened skin, Thin skin, Thoracolumbar kyphoscoliosis, Umbilical hernia, Varus deformity of humeral neck, Wide intermamillary distance
EN-PFC1	EIF4A2	0.315012664	1.22E-14	Translation regulatory protein	BrainSpLMD|1974	OMIM|601102;COSMIC||NHL
EN-PFC1	CDH10	2.199059437	1.23E-14	Adhesion molecule	BrainSpLMD|1008;Eurexp|euxassay_009792|mantle layer, nose, tegmentum;BrainSpMouseDev|107808	SFARI||Autism, 4 - Minimal evidence;OMIM|604555;COSMIC||melanoma, pancreatic ductal adenocarcinoma
EN-PFC1	RP11.15J10.1	1.481025962	1.30E-14			
EN-PFC1	DYNLL1	0.40757566	1.30E-14	Motor protein	BrainSpLMD|8655	OMIM|601562
EN-PFC1	MMP16	0.908686744	1.43E-14	Metallo protease	BrainSpLMD|4325;Eurexp|euxassay_002543|body-wall mesenchyme, cochlear duct, cranium, head mesenchyme, mandible, rib, vibrissa	OMIM|602262
EN-PFC1	OSBPL10	0.694118909	1.83E-14	Transport/cargo protein	BrainSpLMD|114884;Eurexp|euxassay_008182|dorsal root ganglion, glossopharyngeal IX, mantle layer, testis, trigeminal V, ventral grey horn	OMIM|606738
EN-PFC1	SYCP3	1.3278301	1.85E-14	Cell cycle control protein	BrainSpLMD|50511	OMIM|604759;HPO|50511|Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Autosomal recessive inheritance, Azoospermia, Decreased testicular size, Increased circulating gonadotropin level, Non-obstructive azoospermia, Obstructive azoospermia, Recurrent spontaneous abortion
EN-PFC1	GPI	0.277692301	1.85E-14	Enzyme: Isomerase	BrainSpLMD|2821	OMIM|172400;HPO|2821|Ataxia, Autosomal recessive inheritance, Cholecystitis, Decreased glucosephosphate isomerase activity, Impaired neutrophil bactericidal activity, Intellectual disability, Jaundice, Muscle weakness, Nonspherocytic hemolytic anemia, Pigment gallstones, Sensory ataxia, Splenomegaly, Spontaneous hemolytic crises
EN-PFC1	GABRA3	1.678514033	2.25E-14	Transport/cargo protein	BrainSpLMD|2556;BrainSpMouseDev|14172	SFARI||Autism, No category;OMIM|305660;HPO|2556|Constipation, Decreased urinary potassium, EMG abnormality, Episodic flaccid weakness, Episodic hypokalemia, Exercise-induced muscle fatigue, Graves disease, Hyperhidrosis, Hypomagnesemia, Hyporeflexia, Increased intramyocellular lipid droplets, Lower limb muscle weakness, Mildly elevated creatine phosphokinase, Muscle cramps, Muscle stiffness, Obesity, Palpitations, Periodic hypokalemic paresis, Postprandial hyperglycemia, Rhabdomyolysis, Tetraplegia, Thyrotoxicosis with toxic multinodular goitre, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Tremor, Urinary retention, Weight loss
EN-PFC1	NCAPG	0.692590112	2.34E-14	DNA binding protein	BrainSpLMD|64151;Eurexp|euxassay_013748|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|606280
EN-PFC1	FAM184A	1.576101233	2.39E-14	Unclassified	BrainSpLMD|79632;Eurexp|euxassay_016295|mantle layer	
EN-PFC1	ATAT1	0.649878588	3.04E-14	Unclassified	BrainSpLMD|79969;Eurexp|euxassay_009892|brain, neural retina, spinal cord	OMIM|615556
EN-PFC1	ERC2	0.939074788	3.53E-14	Cytoskeletal associated protein	BrainSpLMD|26059;Eurexp|euxassay_003848|adenohypophysis, adrenal gland, bladder, brain, cervical, cervico-thoracic, dermis, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, lung, metanephros, midgut, oesophagus, olfactory, retina, spinal cord, stomach, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|617250
EN-PFC1	C14orf37	1.118870868	3.61E-14	Integral membrane protein	BrainSpLMD|145407;Eurexp|euxassay_001572|axial skeleton, dorsal root ganglion, glossopharyngeal IX, head mesenchyme, trigeminal V, vagus X, vertebral axis muscle system, vibrissa	
EN-PFC1	CCDC171	1.352561688	4.42E-14	Unclassified	BrainSpLMD|203238;Eurexp|euxassay_016011|olfactory, trigeminal V	
EN-PFC1	ABLIM3	1.870696444	5.26E-14	Cytoskeletal protein	BrainSpLMD|22885;Eurexp|euxassay_006983|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, vagus X, valve, vestibulocochlear VIII	OMIM|611305
EN-PFC1	ANKRD44	0.827854138	5.41E-14	Unclassified	BrainSpLMD|91526	
EN-PFC1	SRGAP1	0.516292921	5.61E-14	GTPase activating protein	BrainSpLMD|57522	OMIM|606523
EN-PFC1	CBWD7	1.156811977	6.08E-14			
EN-PFC1	INA	0.493569572	7.78E-14	Cytoskeletal protein	BrainSpLMD|9118;Eurexp|euxassay_012424|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|605338
EN-PFC1	GDAP1	0.423774816	7.90E-14	Unclassified	BrainSpLMD|54332	OMIM|606598;HPO|54332|Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Axonal degeneration/regeneration, Axonal regeneration, Basal lamina 'onion bulb' formation, CNS hypomyelination, Childhood onset, Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, EMG: neuropathic changes, Flexion contracture, Foot dorsiflexor weakness, Hammertoe, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Inability to walk by childhood/adolescence, Infantile onset, Kyphoscoliosis, Limb muscle weakness, Motor delay, Neonatal onset, Onion bulb formation, Peripheral axonal degeneration, Peripheral demyelination, Peripheral hypomyelination, Peripheral neuropathy, Pes cavus, Proximal muscle weakness, Rapidly progressive, Scoliosis, Spinal deformities, Split hand, Steppage gait, Talipes equinovarus, Ulnar claw, Vocal cord paresis
EN-PFC1	LRRC7	0.276441902	8.79E-14	Cell junction protein	BrainSpLMD|57554;Eurexp|euxassay_009687|brain, spinal cord	SFARI||Autism, No category;OMIM|614453
EN-PFC1	SYT13	1.503912828	8.90E-14	Membrane transport protein	BrainSpLMD|57586;Eurexp|euxassay_017968|chondrocranium, dorsal root ganglion, facial VII, genital tubercle, glossopharyngeal IX, incisor, lip, mantle layer, marginal layer, neural retina, penis, stroma, tongue, trigeminal V, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	OMIM|607716
EN-PFC1	CDC42BPA	0.683697174	9.35E-14	Serine/threonine kinase	BrainSpLMD|8476	OMIM|603412
EN-PFC1	IRF2BP2	0.877968282	1.04E-13	Transcription regulatory protein	BrainSpLMD|359948	OMIM|615332
EN-PFC1	RAB9B	1.059787613	1.21E-13	GTPase	BrainSpLMD|51209	OMIM|300285
EN-PFC1	CACNG8	0.993672974	1.23E-13	Voltage gated channel	BrainSpLMD|59283;Eurexp|euxassay_002189|marginal layer	OMIM|606900
EN-PFC1	SLC44A1	0.721255151	1.24E-13	Integral membrane protein	BrainSpLMD|23446;Eurexp|euxassay_019727|bladder, clavicle, cornea, femur, fibula, hindgut, liver, lung, mandible, mantle layer, maxilla, midgut, oesophagus, olfactory, orbito-sphenoid, palatal shelf, pancreas, phalanx, pituitary, rib, sternum, submandibular gland primordium, testis, thymus primordium, tibia, urethra, ventricular layer, vibrissa	OMIM|606105
EN-PFC1	3-Sep	0.514096006	1.41E-13			
EN-PFC1	NEGR1	1.198410337	1.42E-13	Unclassified	BrainSpLMD|257194	OMIM|613173
EN-PFC1	OSBPL3	1.323478324	1.50E-13	Unclassified	BrainSpLMD|26031;Eurexp|euxassay_002818|basal plate, calyces, dorsal root ganglion, glossopharyngeal IX, inferior, laryngeal, mantle layer, mesenchyme, olfactory, skeleton, stomach, superior, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa	OMIM|606732
EN-PFC1	C3orf14	0.655679442	1.50E-13	Unclassified	BrainSpLMD|57415	
EN-PFC1	CAMK2N1	0.535709205	1.57E-13	Unclassified	BrainSpLMD|55450	OMIM|614986
EN-PFC1	LRRC37A2	0.284865921	1.69E-13	Integral membrane protein		OMIM|616556
EN-PFC1	RBFOX2	0.359323012	1.78E-13	RNA binding protein	BrainSpLMD|23543	OMIM|612149
EN-PFC1	SCAMP1	1.13946465	1.83E-13	Membrane transport protein	BrainSpLMD|9522	OMIM|606911
EN-PFC1	CEP170	0.445380916	1.86E-13	Unclassified	BrainSpLMD|9859	OMIM|613023
EN-PFC1	PDS5B	0.649753282	2.08E-13	Transcription factor	BrainSpLMD|23047	OMIM|605333
EN-PFC1	QDPR	0.64695973	2.11E-13	Enzyme: Reductase	BrainSpLMD|5860;Eurexp|euxassay_002173|dorsal root ganglion, olfactory;BrainSpMouseDev|74548	OMIM|612676;HPO|5860|Autosomal recessive inheritance, Cerebral calcification, Choreoathetosis, Dysphagia, Dystonia, Episodic fever, Excessive salivation, Global developmental delay, Hyperphenylalaninemia, Hypertonia, Infantile onset, Intellectual disability, Irritability, Microcephaly, Muscular hypotonia, Myoclonus, Progressive neurologic deterioration, Seizures, Tremor, Variable expressivity
EN-PFC1	GUCY1B3	1.526155712	2.11E-13			
EN-PFC1	GTF2H5	0.774227068	2.54E-13	Transcription factor	BrainSpLMD|404672;Eurexp|euxassay_003129|cervical, cervico-thoracic, chondrocranium, clavicle, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, marginal layer, oesophagus, olfactory, oral epithelium, pancreas, submandibular gland primordium, thoracic, thymus primordium, tooth, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42310	OMIM|608780;HPO|404672|Asthma, Autosomal recessive inheritance, Brittle hair, Cataract, Congenital nonbullous ichthyosiform erythroderma, Decreased fertility, Erythroderma, Intellectual disability, Joint contracture of the hand, Short stature, Tiger tail banding
EN-PFC1	CBWD3	0.766039705	2.63E-13		BrainSpLMD|445571	OMIM|611080
EN-PFC1	TTC14	0.891418205	3.51E-13	Unclassified	BrainSpLMD|151613	
EN-PFC1	RYR2	1.659439586	3.56E-13	Intracellular ligand gated channel	BrainSpLMD|6262	OMIM|180902;HPO|6262|Autosomal dominant inheritance, Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardias, Right ventricular cardiomyopathy, Seizures, Sudden death, Syncope, Ventricular arrhythmia, Ventricular tachycardia, Vertigo
EN-PFC1	RIC3	0.799275709	3.94E-13	Integral membrane protein	BrainSpLMD|79608	OMIM|610509
EN-PFC1	PPP2R2B	0.367949572	4.15E-13	Regulatory/other subunit;Serine/threonine phosphatase	BrainSpLMD|5521;Eurexp|euxassay_007301|Meckel's cartilage, brain, eyelid, facial VII, glossopharyngeal IX, inner ear, left lung, neural retina, orbito-sphenoid, right lung, skeletal muscle, spinal cord, tongue, trigeminal V, turbinate, vagus X, vestibulocochlear VIII	OMIM|604325;HPO|5521|Abnormality of eye movement, Action tremor, Anxiety, Autosomal dominant inheritance, Axial dystonia, Cerebellar atrophy, Cerebral cortical atrophy, Delusions, Dementia, Depressivity, Dysarthria, Dysdiadochokinesis, Dysmetria, Facial myokymia, Head tremor, Hyperreflexia, Parkinsonism, Progressive cerebellar ataxia, Sensorimotor neuropathy
EN-PFC1	ZBTB38	0.959831437	4.53E-13	Transcription regulatory protein		OMIM|612218
EN-PFC1	PJA2	0.628223742	4.91E-13	Ubiquitin proteasome system protein	BrainSpLMD|9867;Eurexp|euxassay_000283|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	
EN-PFC1	KAT6B	0.490408678	5.15E-13	Enzyme: Acyltransferase	BrainSpLMD|23522	OMIM|605880;COSMIC||AML, leiomyoma, Genitopatellar syndrome, Say-Barber-Biesecker/Young-Simpson syndrome;HPO|23522|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of the antihelix, Abnormality of the cheek, Abnormality of the spleen, Agenesis of corpus callosum, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Arthrogryposis multiplex congenita, Atrial septal defect, Atrioventricular canal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bifid uvula, Bilateral single transverse palmar creases, Blepharophimosis, Brachydactyly, Bulbous nose, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Coarse facial features, Coarse hair, Colpocephaly, Congenital hip dislocation, Cryptorchidism, Cystic hygroma, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Downslanted palpebral fissures, Dysarthria, Dysphagia, Ectopic thyroid, Enlarged labia minora, Enlarged thorax, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Fine hair, Generalized hypotonia, Global developmental delay, Hearing impairment, Hepatomegaly, High forehead, High palate, Hip contracture, Hydronephrosis, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplastic ilia, Hypoplastic inferior pubic rami, Hypoplastic ischia, Hypothyroidism, Intellectual disability, Intellectual disability, progressive, Joint hyperflexibility, Knee flexion contracture, Laryngomalacia, Long nose, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Micropenis, Midface retrusion, Multicystic kidney dysplasia, Muscle weakness, Muscular hypotonia, Patellar aplasia, Patellar dislocation, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Periventricular gray matter heterotopia, Polyhydramnios, Posteriorly rotated ears, Prominent nasal bridge, Prominent nose, Prominent occiput, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonary hypoplasia, Recurrent respiratory infections, Retrognathia, Scoliosis, Scrotal hypoplasia, Seizures, Severe short stature, Short palm, Short palpebral fissure, Short phalanx of finger, Short stature, Sloping forehead, Sparse scalp hair, Specific learning disability, Strabismus, Submucous cleft hard palate, Talipes equinovarus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Thyroid agenesis, Thyroid hypoplasia, Triangular face, Ventricular septal defect, Webbed neck, Wide intermamillary distance, Wide nose
EN-PFC1	CALN1	2.200839432	5.44E-13	Calcium binding protein	BrainSpLMD|83698	OMIM|607176
EN-PFC1	AMER2	0.530042678	5.77E-13	Unclassified	BrainSpLMD|219287;Eurexp|euxassay_006362|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614659
EN-PFC1	VRK1	0.747647551	5.83E-13	Serine/threonine kinase	BrainSpLMD|7443	OMIM|602168;HPO|7443|Abnormality of the foot, Ataxia, Autosomal recessive inheritance, Basal ganglia gliosis, Cerebellar hypoplasia, Congenital contracture, Congenital onset, Degeneration of anterior horn cells, EMG: neuropathic changes, Fasciculations, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hyperreflexia, Hypoplasia of the pons, Hypoplasia of the ventral pons, Intellectual disability, Muscle weakness, Neuronal loss in basal ganglia, Progressive, Respiratory insufficiency, Spinal muscular atrophy
EN-PFC1	HOOK1	2.07548371	6.48E-13	Cytoskeletal associated protein	BrainSpLMD|51361	OMIM|607820
EN-PFC1	NRG3	1.808293547	6.77E-13	Growth factor	BrainSpMouseDev|17950	OMIM|605533
EN-PFC1	DGKI	1.002915448	6.81E-13	Lipid Kinase	BrainSpLMD|9162;Eurexp|euxassay_010174|mantle layer, marginal layer	OMIM|604072
EN-PFC1	ELFN2	0.884185729	6.88E-13	Integral membrane protein	Eurexp|euxassay_008595|brain, spinal cord	
EN-PFC1	SYT7	1.411729099	8.06E-13	Calcium binding protein	BrainSpLMD|9066	OMIM|604146
EN-PFC1	CNOT7	0.381984012	9.26E-13	Transcription regulatory protein	BrainSpLMD|29883;Eurexp|euxassay_011947|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, brain, dorsal root ganglion, femur, humerus, nasal septum, orbito-sphenoid, petrous part, rib, scapula, spinal cord, turbinate bones	OMIM|604913
EN-PFC1	JPH4	0.852126959	9.87E-13	Unclassified	BrainSpLMD|84502;Eurexp|euxassay_007469|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, mesenchyme, midbrain, rest of mesenchyme, spinal cord, telencephalon, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
EN-PFC1	PARVB	1.506844483	1.07E-12	Adhesion molecule	BrainSpLMD|29780;Eurexp|euxassay_007690|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, left, mandible, mantle layer, maxilla, molar, neural retina, palatal shelf, pituitary, right, roof plate, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|82039	OMIM|608121
EN-PFC1	MYO5A	0.407470631	1.08E-12	Structural protein	BrainSpLMD|4644;Eurexp|euxassay_015107|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|160777;COSMIC||Spitzoid tumour, Griscelli syndrome;HPO|4644|Abnormality of movement, Accumulation of melanosomes in melanocytes, Ataxia, Autosomal recessive inheritance, Diplopia, Generalized hypotonia, Global developmental delay, Hyperlipidemia, Hypertonia, Hypopigmentation of hair, Hypopigmentation of the skin, Infantile onset, Intellectual disability, Iris hypopigmentation, Melanin pigment aggregation in hair shafts, Muscular hypotonia, Myopia, Nystagmus, Partial albinism, Premature graying of hair, Retinopathy, Seizures, Silver-gray hair, Specific learning disability, Tremor, White hair
EN-PFC1	CPEB4	0.599427984	1.09E-12	RNA binding protein	BrainSpLMD|80315	OMIM|610607
EN-PFC1	VSTM2L	1.505590497	1.23E-12	Unclassified	BrainSpLMD|128434;Eurexp|euxassay_007444|embryo	OMIM|616537
EN-PFC1	ST3GAL5	1.230063737	1.28E-12	Enzyme: Sialyltransferase	BrainSpLMD|8869	OMIM|604402;HPO|8869|Absent speech, Autosomal recessive inheritance, Choreoathetosis, Cortical visual impairment, Developmental regression, Developmental stagnation at onset of seizures, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Generalized tonic-clonic seizures, Global brain atrophy, Global developmental delay, Hypermelanotic macule, Hyporeflexia of upper limbs, Irritability, Lower limb hyperreflexia, Myoclonus, Optic atrophy, Status epilepticus, Visual loss, Vomiting
EN-PFC1	VASH2	0.350396414	1.31E-12	Unclassified	BrainSpLMD|79805	OMIM|610471
EN-PFC1	CYFIP2	0.61542759	1.38E-12	Unclassified	BrainSpLMD|26999;Eurexp|euxassay_012077|Meckel's cartilage, basioccipital bone, basisphenoid bone, brain, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, olfactory, orbito-sphenoid, pelvic girdle, respiratory, rib, scapula, spinal cord, temporal bone, tibia, trigeminal V, turbinate, vestibulocochlear VIII, vomeronasal organ	OMIM|606323
EN-PFC1	ST6GALNAC3	1.658726701	1.41E-12	Enzyme: Sialyltransferase	BrainSpLMD|256435	OMIM|610133
EN-PFC1	FMN2	0.646299814	1.73E-12	Cytoskeletal associated protein	BrainSpLMD|56776	OMIM|606373;HPO|56776|Autosomal recessive inheritance, Global developmental delay, Infantile onset, Intellectual disability, Poor speech
EN-PFC1	SNHG14	0.663875425	1.80E-12			OMIM|616259
EN-PFC1	CHD3	0.592522472	1.86E-12	DNA binding protein	BrainSpLMD|1107	OMIM|602120
EN-PFC1	CRLF3	0.268956157	1.98E-12	Unclassified	BrainSpLMD|51379;Eurexp|euxassay_008617|liver, thymus primordium	OMIM|614853
EN-PFC1	STX7	0.77363436	2.16E-12	Integral membrane protein	BrainSpLMD|8417;Eurexp|euxassay_011674|cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|603217
EN-PFC1	FGF13	0.811362819	2.32E-12	Growth factor	BrainSpLMD|2258	OMIM|300070
EN-PFC1	MTURN	0.535382555	2.48E-12	Unclassified	BrainSpLMD|222166	
EN-PFC1	AC004158.2	1.225654233	2.52E-12			
EN-PFC1	CACNB4	1.07015235	2.53E-12	Voltage gated channel	BrainSpLMD|785;Eurexp|euxassay_010369|marginal layer	OMIM|601949;HPO|785|Autosomal dominant inheritance, Dysarthria, Episodic ataxia, Gaze-evoked nystagmus, Incomplete penetrance, Vertigo
EN-PFC1	VCAN	0.360432774	2.77E-12	Extracellular matrix protein	BrainSpLMD|1462	OMIM|118661;HPO|1462|Autosomal dominant inheritance, Cataract, Chorioretinal atrophy, Glaucoma, Myopia, Optic atrophy, Optically empty vitreous, Peripheral traction retinal detachment, Retinal pigment epithelial atrophy, Visual field defect, Visual loss, Vitreoretinal degeneration
EN-PFC1	SULT4A1	1.00361426	2.85E-12	Enzyme: Sulphotransferase	BrainSpLMD|25830	OMIM|608359
EN-PFC1	LINC00710	1.319379519	3.26E-12			
EN-PFC1	ZNRF1	0.877233348	3.78E-12	Ubiquitin proteasome system protein	BrainSpLMD|84937	OMIM|612060
EN-PFC1	TRIM36.IT1	0.46010101	3.91E-12			
EN-PFC1	MIR4477B	0.838322908	3.92E-12			
EN-PFC1	CDC42	0.41293365	4.10E-12	GTPase	BrainSpLMD|998;BrainSpMouseDev|12325	OMIM|116952
EN-PFC1	PCMTD1	0.394706369	4.62E-12	Unclassified	BrainSpLMD|115294;Eurexp|euxassay_011211|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, incisor, midbrain, molar, neural retina, spinal cord, submandibular gland primordium, testis, thymus primordium, thyroid, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	
EN-PFC1	ABI2	0.484101952	4.82E-12	Adapter molecule	BrainSpLMD|10152	OMIM|606442
EN-PFC1	MAP7D2	1.31009615	4.93E-12	Unclassified	BrainSpLMD|256714;Eurexp|euxassay_013477|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn, vestibulocochlear VIII	
EN-PFC1	RGS7	1.187759219	5.22E-12	GTPase activating protein	BrainSpLMD|6000;Eurexp|euxassay_014400|Meckel's cartilage, cervico-thoracic, diencephalon, dorsal root ganglion, femur, glossopharyngeal IX, hindbrain, humerus, mesenchyme, midbrain, neural retina, orbito-sphenoid, pelvic girdle, scapula, spinal cord, telencephalon, temporal bone, thoracic, trigeminal V, turbinate, vagus X, vault of skull	SFARI||Autism, 4 - Minimal evidence;OMIM|602517;COSMIC||melanoma
EN-PFC1	FRRS1L	1.467741711	5.38E-12	Integral membrane protein		OMIM|604574;HPO|23732|Absent speech, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Developmental regression, Epileptic encephalopathy, Gait disturbance, Generalized hypotonia, Global developmental delay, Intellectual disability, Myoclonus, Rigidity, Spasticity
EN-PFC1	RFPL1S	0.942506296	5.41E-12			OMIM|605972
EN-PFC1	TRIM67	1.744705572	5.64E-12	Ubiquitin proteasome system protein	BrainSpLMD|440730	OMIM|610584
EN-PFC1	CADM2	1.200681656	6.39E-12	Adhesion molecule	BrainSpLMD|253559;Eurexp|euxassay_011528|basioccipital bone, femur, humerus, mantle layer, midbrain, orbito-sphenoid, pelvic girdle, petrous part, scapula, trigeminal V, turbinate	SFARI||Autism, No category;OMIM|609938
EN-PFC1	DFNA5	1.323246349	6.43E-12			
EN-PFC1	RAI14	0.696397403	6.66E-12	Unclassified	BrainSpLMD|26064;Eurexp|euxassay_015953|axial muscle, clavicle, floor plate, floorplate, incisor, lung, mandible, maxilla, metanephros, orbito-sphenoid, palatal shelf, penis, physiological umbilical hernia, rib, roof plate, turbinate, ventricular layer	OMIM|606586
EN-PFC1	LINC00657	0.502561367	6.74E-12			
EN-PFC1	ATXN7L3B	0.629298998	6.85E-12	-	BrainSpLMD|552889	OMIM|615579
EN-PFC1	BRINP1	1.358574181	6.93E-12	Cell cycle control protein	BrainSpLMD|1620;Eurexp|euxassay_010001|dorsal grey horn, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, submandibular gland primordium, trigeminal V, ventral grey horn, vestibulocochlear VIII	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602865
EN-PFC1	CDHR3	1.60474257	7.15E-12	Unclassified	BrainSpLMD|222256	OMIM|615610
EN-PFC1	TMOD2	0.428643697	7.31E-12	Cytoskeletal associated protein	BrainSpLMD|29767	OMIM|602928
EN-PFC1	C14orf23	0.480492621	7.77E-12			
EN-PFC1	MAGI2	0.563278895	8.09E-12	Unclassified	BrainSpLMD|9863	OMIM|606382
EN-PFC1	RP11.658F2.8	0.612995195	8.38E-12			
EN-PFC1	MIR4477A	1.137394816	8.83E-12			
EN-PFC1	SUB1	0.374203983	9.05E-12	Transcription factor	BrainSpLMD|10923	OMIM|600503
EN-PFC1	GOLGA8B	0.690296562	9.65E-12	Unclassified	BrainSpLMD|440270	OMIM|609619
EN-PFC1	3-Mar	1.377813525	9.79E-12			
EN-PFC1	BACE2	2.044780303	1.02E-11	Protease	BrainSpLMD|25825	OMIM|605668
EN-PFC1	IGFBP5	0.539527292	1.08E-11	Adhesion molecule	BrainSpLMD|3488;Eurexp|euxassay_001623|limb, tail, vertebral axis muscle system;BrainSpMouseDev|15784	OMIM|146734
EN-PFC1	KHDRBS2	1.022867604	1.10E-11	RNA binding protein	BrainSpLMD|202559	SFARI||Autism, 4 - Minimal evidence;OMIM|610487
EN-PFC1	MAPRE2	0.649875864	1.16E-11	Cytoskeletal associated protein	BrainSpLMD|10982;Eurexp|euxassay_007836|cervical, cervico-thoracic, dorsal root ganglion, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|605789;HPO|10982|Autosomal dominant inheritance, Broad neck, Carious teeth, Cleft palate, Cryptorchidism, Delayed speech and language development, Downslanted palpebral fissures, Edema, Epicanthus, Flat face, Generalized hypotonia, Hypoplasia of the corpus callosum, Hypospadias, Increased number of skin folds, Irregular hyperpigmentation, Low-set ears, Microcornea, Micrognathia, Microphthalmia, Microtia, Motor delay, Narrow mouth, Posteriorly rotated ears, Scrotal hypoplasia, Seizures, Short neck, Short palpebral fissure, Thickened skin, Upslanted palpebral fissure
EN-PFC1	HIP1R	0.727586951	1.20E-11	Cytoskeletal associated protein	BrainSpLMD|9026;Eurexp|euxassay_012046|basisphenoid bone, clavicle, dorsal root ganglion, epidermis, epithelium, exoccipital bone, facial VII, fibula, fundus region, glossopharyngeal IX, incisor, larynx, lobe, mantle layer, metanephros, metatarsus, midgut, molar, naris, neural retina, oesophagus, olfactory, orbito-sphenoid, pancreas, petrous part, pharyngo-tympanic tube, pituitary, rectum, rib, stomach, submandibular gland primordium, tarsus, temporal bone, thymus primordium, thyroid, tibia, trachea, trigeminal V, turbinate, urethra, vibrissa	OMIM|605613
EN-PFC1	PRDM8	1.07544166	1.21E-11	Unclassified	BrainSpLMD|56978;Eurexp|euxassay_003278|diencephalon, dorsal root ganglion, hindbrain, midbrain, spinal cord, telencephalon, trigeminal V	OMIM|616639;HPO|56978|Autosomal recessive inheritance, Dementia, Dysarthria, Generalized myoclonic seizures, Hallucinations, Hyperreflexia, Lafora bodies, Mutism, Myoclonus, Paranoia, Progressive, Progressive cerebellar ataxia, Psychosis, Spastic ataxia, Spastic tetraplegia, Urinary incontinence, Variable expressivity
EN-PFC1	ITFG1	0.980060059	1.22E-11	Integral membrane protein	BrainSpLMD|81533;Eurexp|euxassay_011448|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611803
EN-PFC1	TBC1D30	0.269225019	1.28E-11			OMIM|615077
EN-PFC1	RP11.543H23.2	1.174482164	1.30E-11			
EN-PFC1	LINC01122	0.766984868	1.54E-11			
EN-PFC1	CNTN3	1.699395913	1.67E-11	Immunoglobulin	Eurexp|euxassay_009023|mantle layer, marginal layer, ventral grey horn;BrainSpMouseDev|18254	SFARI||Autism, No category;OMIM|601325
EN-PFC1	AEBP2	0.473588414	1.68E-11	DNA binding protein	BrainSpLMD|121536;Eurexp|euxassay_014332|footplate, handplate, thymus primordium, ventricular layer;BrainSpMouseDev|11356	
EN-PFC1	WNK3	0.532866525	1.69E-11	Serine/threonine kinase	BrainSpLMD|65267	SFARI||Autism, 4 - Minimal evidence;OMIM|300358
EN-PFC1	ADAM23	0.977931869	1.76E-11	Metallo protease	BrainSpLMD|8745;Eurexp|euxassay_007602|dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, maxillary division, neural retina, skeletal muscle, sublingual gland primordium, submandibular gland primordium, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|603710
EN-PFC1	DIP2A	0.499790062	1.93E-11	Transcription regulatory protein	BrainSpLMD|23181	SFARI||Autism, 3 - Suggestive evidence;OMIM|607711
EN-PFC1	ZNF385D	1.906652402	2.06E-11	DNA binding protein	BrainSpLMD|79750	
EN-PFC1	PRRG3	0.458553616	2.06E-11	Integral membrane protein	BrainSpLMD|79057	OMIM|300685
EN-PFC1	VEZT	0.342960919	2.10E-11	Adhesion molecule	BrainSpLMD|55591;Eurexp|euxassay_005115|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, naris, olfactory, respiratory, retina, spinal cord, trigeminal V, vestibulocochlear VIII	
EN-PFC1	SPTBN1	0.438659553	2.12E-11	Cytoskeletal protein	BrainSpLMD|6711	OMIM|182790
EN-PFC1	ZNF285	1.258298774	2.24E-11	Transcription regulatory protein		
EN-PFC1	CFTR	1.314539436	2.43E-11	Membrane transport protein	BrainSpLMD|1080	OMIM|602421;HPO|1080|Abdominal pain, Abnormal enzyme/coenzyme activity, Absent vas deferens, Asthma, Autosomal recessive inheritance, Azoospermia, Biliary cirrhosis, Bronchiectasis, Chronic lung disease, Cor pulmonale, Decreased antibody level in blood, Decreased testicular size, Elevated C-reactive protein level, Elevated sweat chloride, Exocrine pancreatic insufficiency, Failure to thrive, Heterogeneous, Hypercalciuria, Immunodeficiency, Increased circulating gonadotropin level, Leukocytosis, Malabsorption, Male infertility, Meconium ileus, Non-obstructive azoospermia, Obstructive azoospermia, Pulmonary fibrosis, Rectal prolapse, Recurrent bronchopulmonary infections, Recurrent pancreatitis, Recurrent pneumonia, Recurrent respiratory infections
EN-PFC1	ETNK1	0.309042538	2.67E-11	Enzyme: Phosphotransferase	BrainSpLMD|55500;Eurexp|euxassay_008092|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, thymus primordium, trigeminal V	OMIM|609858;COSMIC||aCML, CMML, SM-AHD, HES
EN-PFC1	NNT	0.71578052	2.68E-11	Enzyme: Oxidoreductase	BrainSpLMD|23530;Eurexp|euxassay_007280|diaphragm, left lung, oesophagus, right lung, skeletal muscle, vertebral axis muscle system	OMIM|607878;HPO|23530|Autosomal recessive inheritance, Failure to thrive, Hypoglycemia
EN-PFC1	GPD1L	1.312510498	3.39E-11	Unclassified	BrainSpLMD|23171;Eurexp|euxassay_012850|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	OMIM|611778;HPO|23171|Autosomal dominant inheritance, First degree atrioventricular block, Right bundle branch block, Syncope, Ventricular fibrillation
EN-PFC1	ATP2C2	1.158351792	3.41E-11	Calcium binding protein	BrainSpLMD|9914	OMIM|613082
EN-PFC1	NECAP1	0.698097468	3.49E-11	Unclassified	BrainSpLMD|25977	OMIM|611623;HPO|25977|Autosomal recessive inheritance, Decreased fetal movement, Epileptic encephalopathy, Feeding difficulties, Generalized hypotonia, Global developmental delay, Muscular hypotonia of the trunk
EN-PFC1	MGAT4C	1.255016628	3.52E-11	Enzyme: Glucosaminyltransferase	BrainSpLMD|25834	OMIM|607385
EN-PFC1	RP11.75C9.2	1.257833149	3.52E-11			
EN-PFC1	PHACTR3	0.350497545	4.22E-11	Regulatory/other subunit	BrainSpLMD|116154	OMIM|608725
EN-PFC1	METTL9	0.581876944	4.33E-11	Unclassified	BrainSpLMD|51108	OMIM|609388
EN-PFC1	KIAA1377	1.430788957	4.44E-11			
EN-PFC1	RP11.509E10.1	0.426478638	4.69E-11			
EN-PFC1	NCDN	1.120340714	4.85E-11	Unclassified	BrainSpLMD|23154;Eurexp|euxassay_001888|dorsal root ganglion, glossopharyngeal IX, marginal layer, trigeminal V, ventral grey horn	OMIM|608458
EN-PFC1	DNAJC6	0.974140199	5.26E-11	Chaperone	BrainSpLMD|9829;Eurexp|euxassay_006348|cervical, cervico-thoracic, dorsal root ganglion, epithelium, facial VII, genital tubercle, glossopharyngeal IX, mantle layer, marginal layer, midgut, neural retina, olfactory, stomach, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608375;HPO|9829|Abnormal pyramidal signs, Akinesia, Autosomal recessive inheritance, Bradykinesia, Brain atrophy, Cognitive impairment, Dysarthria, Dystonia, Fatigue, Gait ataxia, Hallucinations, Hypomimic face, Hyporeflexia, Inability to walk, Intellectual disability, Leg muscle stiffness, Parkinsonism, Pes cavus, Postural instability, Rapidly progressive, Resting tremor, Rigidity, Scoliosis, Seizures, Short stepped shuffling gait, Shuffling gait, Slow progression, Slowed slurred speech, Spasticity, Tremor, Weak voice
EN-PFC1	SERINC3	0.872120819	5.44E-11	Integral membrane protein	BrainSpLMD|10955;Eurexp|euxassay_004869|dorsal root ganglion, facial VII, glossopharyngeal IX, left, mandible, maxilla, medulla, orbito-sphenoid, right, testis, thymus primordium, trigeminal V	OMIM|607165
EN-PFC1	PRKAR2B	1.202581842	5.53E-11	Serine/threonine kinase	BrainSpLMD|5577;Eurexp|euxassay_012279|adrenal gland, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, lobe, midbrain, neural retina, skeletal muscle, spinal cord, submandibular gland primordium, telencephalon, testis, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|176912
EN-PFC1	ARL17A	0.965101788	5.62E-11	-	BrainSpLMD|51326	
EN-PFC1	RAPGEF5	1.533263581	5.62E-11	Guanine nucleotide exchange factor	BrainSpLMD|9771;BrainSpMouseDev|85296	OMIM|609527
EN-PFC1	SERPINI1	1.765060492	5.96E-11	Protease inhibitor	BrainSpLMD|5274;Eurexp|euxassay_007129|embryo	OMIM|602445;HPO|5274|Abnormality of extrapyramidal motor function, Autosomal dominant inheritance, Cerebral atrophy, Dementia, Diplopia, Distal sensory impairment, Dysarthria, Encephalopathy, Gliosis, Myoclonus, Neuronal loss in central nervous system, Nystagmus, Seizures
EN-PFC1	FXYD6	0.412083635	6.08E-11	Ion channel	BrainSpLMD|53826;Eurexp|euxassay_005187|brain, cervical, cervico-thoracic, cortex, facial VII, spinal cord, thoracic, trigeminal V, vagus X, valve, vestibulocochlear VIII;BrainSpMouseDev|37655	OMIM|606683
EN-PFC1	SRPK1	0.469482039	6.25E-11	Dual specificity kinase	BrainSpLMD|6732	OMIM|601939
EN-PFC1	DSCAML1	0.629143922	6.43E-11	Adhesion molecule	BrainSpLMD|57453;Eurexp|euxassay_015851|dorsal grey horn, mantle layer, olfactory, vomeronasal organ;BrainSpMouseDev|77592	OMIM|611782
EN-PFC1	VAMP2	0.505841751	6.71E-11	Membrane transport protein	BrainSpLMD|6844	OMIM|185881
EN-PFC1	REEP1	0.492432104	7.16E-11	Unclassified	BrainSpLMD|65055;Eurexp|euxassay_005277|brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, skeletal muscle, spinal cord, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|609139;HPO|65055|Ankle clonus, Areflexia, Autosomal dominant inheritance, Babinski sign, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Hyporeflexia, Lower limb muscle weakness, Pes cavus, Skeletal muscle atrophy, Spastic gait, Spastic paraplegia, Variable expressivity
EN-PFC1	CD47	0.69181038	7.39E-11	Unclassified	BrainSpLMD|961;Eurexp|euxassay_003895|dorsal root ganglion, floorplate, glossopharyngeal IX, left, lip, mantle layer, marginal layer, olfactory, right, thalamus, thymus primordium, trigeminal V, ventral grey horn;BrainSpMouseDev|16196	OMIM|601028
EN-PFC1	NAV1	0.296286131	7.78E-11	Unclassified	BrainSpLMD|89796;Eurexp|euxassay_015115|Meckel's cartilage, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, inferior, mantle layer, midbrain, molar, neural retina, olfactory, respiratory, spinal cord, stroma, superior, thoracic, trigeminal V, turbinate bones, vagus X, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|611628
EN-PFC1	ADRA2A	0.485848843	8.11E-11	G protein coupled receptor	BrainSpLMD|150;Eurexp|euxassay_010849|basisphenoid bone, mantle layer, marginal layer, naris, nasal capsule, olfactory, ventral grey horn;BrainSpMouseDev|11338	OMIM|104210
EN-PFC1	TBC1D24	0.687010002	8.43E-11	Unclassified	BrainSpLMD|57465;Eurexp|euxassay_010949|brain, dorsal root ganglion, facial VII, liver, mesenchyme, neural retina, olfactory, retina, spinal cord, vestibulocochlear VIII	OMIM|613577;HPO|57465|Aggressive behavior, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Developmental regression, EEG with irregular generalized spike and wave complexes, Generalized myoclonic seizures, Global developmental delay, Hearing impairment, Intellectual disability, mild, Irritability, Mental deterioration, Myoclonus, Progressive hearing impairment, Slow progression
EN-PFC1	RALGPS1	0.784938755	8.54E-11	Guanine nucleotide exchange factor	BrainSpLMD|9649	OMIM|614444
EN-PFC1	TERF2IP	0.374776692	9.21E-11	DNA binding protein;Cell cycle control protein	BrainSpLMD|54386	OMIM|605061;HPO|54386|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus
EN-PFC1	ATP9A	0.445162803	9.32E-11	ATPase		OMIM|609126
EN-PFC1	ADCY10P1	1.020261148	9.39E-11			
EN-PFC1	GPR27	0.905140132	9.95E-11	G protein coupled receptor	BrainSpLMD|2850	OMIM|605187
EN-PFC1	ATP6V0B	0.452470548	1.02E-10	ATPase	BrainSpLMD|533;Eurexp|euxassay_004026|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|603717
EN-PFC1	LONRF2	0.522346852	1.04E-10	DNA binding protein	BrainSpLMD|164832;Eurexp|euxassay_010821|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V	
EN-PFC1	PUS7L	0.473073575	1.43E-10	Unclassified	BrainSpLMD|83448;Eurexp|euxassay_001354|incisor, lung, ventricle	
EN-PFC1	RP11.282K24.3	0.951185915	1.47E-10			
EN-PFC1	RAB3A	0.36168147	1.49E-10	GTPase	BrainSpLMD|5864;BrainSpMouseDev|19102	OMIM|179490
EN-PFC1	CACNB2	0.898054953	1.62E-10	Voltage gated channel	BrainSpLMD|783;Eurexp|euxassay_008283|epithalamus, marginal layer, ventricular layer	SFARI||Autism, 3 - Suggestive evidence;OMIM|600003;HPO|783|Atrial fibrillation, Autosomal dominant inheritance, Shortened QT interval, Syncope
EN-PFC1	PSD2	1.327416458	1.66E-10	Unclassified	BrainSpLMD|84249	
EN-PFC1	MIR124.2HG	0.426547718	1.68E-10			
EN-PFC1	CNTNAP3B	0.822180811	1.70E-10			
EN-PFC1	TERF2	0.384349243	1.86E-10	DNA binding protein	BrainSpLMD|7014	SFARI||Autism, 3 - Suggestive evidence;OMIM|602027
EN-PFC1	USP31	0.684073941	1.87E-10	Ubiquitin proteasome system protein	BrainSpLMD|57478	
EN-PFC1	MTPAP	0.562539247	1.87E-10	RNA polymerase	BrainSpLMD|55149;Eurexp|euxassay_002898|lobe	OMIM|613669;HPO|55149|Autosomal recessive inheritance, Babinski sign, Delayed speech and language development, Dysarthria, Hyporeflexia, Nystagmus, Optic atrophy, Slow progression, Spastic ataxia, Spastic paraparesis
EN-PFC1	PRKCE	0.836761045	1.93E-10	Serine/threonine kinase	BrainSpLMD|5581;Eurexp|euxassay_009722|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, spinal cord, trigeminal V, vagus X	OMIM|176975
EN-PFC1	TXNIP	0.611821663	2.51E-10	Cell cycle control protein	BrainSpLMD|10628;Eurexp|euxassay_006657|meninges	OMIM|606599
EN-PFC1	GPR85	1.428542542	2.60E-10	G protein coupled receptor	BrainSpLMD|54329;Eurexp|euxassay_005306|axial skeleton, brain, glossopharyngeal IX, neural retina, skeletal muscle, spinal cord, stroma, trachea, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|605188
EN-PFC1	DEAR	1.664156428	2.61E-10			
EN-PFC1	LRRC49	0.636455689	2.75E-10	Unclassified	BrainSpLMD|54839	
EN-PFC1	HECW1	0.728722901	3.06E-10	Ubiquitin proteasome system protein	BrainSpLMD|23072;Eurexp|euxassay_009392|brain, cerebral cortex, facial VII, glossopharyngeal IX, mantle layer, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610384
EN-PFC1	COPG2	0.538007568	3.28E-10	Transport/cargo protein	BrainSpMouseDev|33453	OMIM|604355
EN-PFC1	CHL1	0.555817818	3.32E-10	Adhesion molecule	BrainSpLMD|10752;BrainSpMouseDev|12446	OMIM|607416;HPO|10752|Atrioventricular canal defect, Brachycephaly, Cleft palate, Cognitive impairment, Cryptorchidism, Downturned corners of mouth, Epicanthus, Hearing impairment, High palate, Hypertelorism, Intrauterine growth retardation, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscular hypotonia, Postaxial hand polydactyly, Ptosis, Short stature, Telecanthus
EN-PFC1	UBE3A	0.494739288	3.64E-10	Ubiquitin proteasome system protein	BrainSpLMD|7337;BrainSpMouseDev|21972	SFARI||Autism, 3 - Suggestive evidence;OMIM|601623;HPO|7337|Absent speech, Apraxia, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Blue irides, Brachycephaly, Broad-based gait, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Clumsiness, Constipation, Deeply set eye, Delayed speech and language development, Drooling, EEG abnormality, Exotropia, Fair hair, Feeding difficulties in infancy, Flat occiput, Generalized hypotonia, Global developmental delay, Hyperactivity, Hyperreflexia, Hypopigmentation of the skin, Hypoplasia of the maxilla, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Limb tremor, Macroglossia, Mandibular prognathia, Motor delay, Muscular hypotonia, Myopia, Nystagmus, Obesity, Obsessive-compulsive behavior, Paroxysmal bursts of laughter, Postnatal microcephaly, Progressive gait ataxia, Protruding tongue, Scoliosis, Seizures, Sleep-wake cycle disturbance, Sporadic, Strabismus, Wide mouth, Widely spaced teeth
EN-PFC1	SDK2	0.872093871	3.88E-10	Adhesion molecule	BrainSpLMD|54549;Eurexp|euxassay_009454|clavicle, femur, mantle layer, tongue, ventral grey horn, ventricular layer	OMIM|607217
EN-PFC1	RP1.240B8.3	1.174731616	3.95E-10			
EN-PFC1	RNU6.457P	1.077626171	4.20E-10			
EN-PFC1	C3orf70	0.478694011	4.24E-10	Unclassified	Eurexp|euxassay_013634|dorsal grey horn, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa	
EN-PFC1	ETV1	0.717946101	4.52E-10	Transcription factor	BrainSpLMD|2115;BrainSpMouseDev|13786	OMIM|600541;COSMIC||Ewing sarcoma, prostate
EN-PFC1	RP11.579O24.1	1.089240279	5.58E-10			
EN-PFC1	ANKRD36	0.377921509	6.47E-10	Unclassified		
EN-PFC1	OCIAD1	0.429596157	6.80E-10	Unclassified	BrainSpLMD|54940	
EN-PFC1	DPF3	1.49429273	7.49E-10	DNA binding protein	BrainSpLMD|8110;Eurexp|euxassay_003306|mantle layer, marginal layer, neural retina, olfactory, stroma	OMIM|601672
EN-PFC1	NSF	1.221524866	7.65E-10	ATPase	BrainSpLMD|4905;Eurexp|euxassay_004886|brain, dorsal root ganglion, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vibrissa	OMIM|601633
EN-PFC1	EFCAB7	0.295260154	7.66E-10	Calcium binding protein	BrainSpLMD|84455	OMIM|617632
EN-PFC1	C20orf194	0.425552362	7.82E-10	Unclassified		OMIM|614146
EN-PFC1	KIF3B	0.684159746	8.22E-10	Motor protein	BrainSpLMD|9371;Eurexp|euxassay_013965|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, trigeminal V, vagus X, vomeronasal organ	OMIM|603754
EN-PFC1	NLGN1.AS1	1.287718163	8.27E-10			
EN-PFC1	LPPR4	0.596043332	9.26E-10			
EN-PFC1	CCDC104	0.484170923	9.52E-10			
EN-PFC1	EPG5	0.341517053	1.21E-09	Unclassified	BrainSpLMD|57724	OMIM|615068;HPO|57724|Abnormal posturing, Abnormality of retinal pigmentation, Abnormality of the thymus, Acidosis, Agenesis of corpus callosum, Albinism, Autosomal recessive inheritance, Cardiomyopathy, Cataract, Cellular immunodeficiency, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Chronic mucocutaneous candidiasis, Cleft palate, Cleft upper lip, Congenital cataract, Congenital onset, Congestive heart failure, Cutaneous anergy, Death in infancy, Decreased T cell activation, Decreased number of CD4+ T cells, Depressed nasal tip, Dilated cardiomyopathy, EEG abnormality, Failure to thrive, Generalized hypotonia, Global developmental delay, Growth delay, High palate, Hypertelorism, Hypopigmentation of the fundus, Hypopigmentation of the skin, Hypoplasia of the pons, IgG deficiency, Immunodeficiency, Immunoglobulin IgG2 deficiency, Intellectual disability, Left ventricular hypertrophy, Low-set ears, Microcephaly, Micrognathia, Motor delay, Muscular hypotonia, Myopathy, Nystagmus, Ocular albinism, Optic atrophy, Penile hypospadias, Recurrent bacterial infections, Recurrent fungal infections, Recurrent respiratory infections, Recurrent viral infections, Renal tubular acidosis, Schizencephaly, Seizures, Short stature, Ureteral atresia, White matter neuronal heterotopia
EN-PFC1	SEMA3A	0.648897014	1.25E-09	Ligand	BrainSpLMD|10371;BrainSpMouseDev|20109	OMIM|603961;HPO|10371|Abnormality of the voice, Anosmia, Anterior hypopituitarism, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Delayed puberty, Erectile abnormalities, Hypogonadotrophic hypogonadism, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Reduced bone mineral density
EN-PFC1	RP11.694O4.1	0.813111006	1.31E-09			
EN-PFC1	GLB1L2	1.1173574	1.35E-09	Unclassified	BrainSpLMD|89944;Eurexp|euxassay_008223|anterior, bladder, calyces, molar, olfactory, pelvis, ureter, vestibulocochlear VIII	
EN-PFC1	R3HDM2	0.259729109	1.43E-09	Unclassified	BrainSpLMD|22864;Eurexp|euxassay_000306|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X	
EN-PFC1	RPL37	0.651874684	1.48E-09	Ribosomal subunit		OMIM|604181
EN-PFC1	TRIM36	0.339176214	1.51E-09	Unclassified	BrainSpLMD|55521;Eurexp|euxassay_012029|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, trigeminal V, vagus X, ventral grey horn, vomeronasal organ;BrainSpMouseDev|27849	OMIM|609317;HPO|55521|Anencephaly, Spina bifida
EN-PFC1	TRAPPC2	0.68687822	1.57E-09	Transcription regulatory protein	BrainSpLMD|6399;Eurexp|euxassay_005400|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|300202;HPO|6399|Abnormality of epiphysis morphology, Arthralgia, Barrel-shaped chest, Coxa vara, Disproportionate short stature, Disproportionate short-trunk short stature, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Irregular epiphyses, Kyphosis, Limitation of joint mobility, Lumbar hyperlordosis, Opacification of the corneal stroma, Platyspondyly, Scoliosis, Shield chest, Short femoral neck, Short neck, Short thorax, Spondyloepiphyseal dysplasia, Thoracic kyphosis, Upper limb undergrowth, X-linked recessive inheritance
EN-PFC1	RTTN	1.041236819	1.67E-09	Unclassified	BrainSpLMD|25914	OMIM|610436;HPO|25914|Abnormality of the corpus callosum, Autosomal recessive inheritance, Dysarthria, EEG abnormality, Intellectual disability, moderate, Microcephaly, Mild short stature, Polymicrogyria, Poor speech, Seizures
EN-PFC1	NMNAT2	0.616643496	1.69E-09	Unclassified;Enzyme: Transferase	BrainSpLMD|23057;Eurexp|euxassay_007621|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, medulla oblongata, metencephalon, midbrain, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608701
EN-PFC1	ZRANB2	0.388127515	1.72E-09	RNA binding protein	BrainSpLMD|9406	OMIM|604347
EN-PFC1	HOMER2	1.338423142	1.72E-09	Unclassified	BrainSpLMD|9455;Eurexp|euxassay_009975|dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, mantle layer, marginal layer, olfactory, right lung, trigeminal V, vagus X, ventral grey horn, vomeronasal organ	OMIM|604799;HPO|9455|Autosomal dominant inheritance
EN-PFC1	AKR1C1	0.815747501	1.74E-09	Enzyme: Reductase	BrainSpLMD|1645	OMIM|600449
EN-PFC1	RP11.701H24.3	0.976204017	1.75E-09			
EN-PFC1	RCAN3	0.960152599	1.81E-09	Unclassified	BrainSpLMD|11123	OMIM|605860
EN-PFC1	ATP1B1	0.352365985	1.89E-09	ATPase	BrainSpLMD|481;Eurexp|euxassay_014734|adenohypophysis, alar columns, atrium, autonomic, basal columns, basal plate, body, calyces, cardiac muscle, cerebellum, cerebral cortex, choroid plexus, collecting ducts, corpus striatum, cortex, cortical region, diencephalic part of interventricular foramen, dorsal root ganglion, duodenum, endocardial cushion tissue, endocardial tissue, epithalamus, epithelium, excretory component, extraembryonic component, facial VII, forebrain, fundus, ganglion, gastro-oesophageal junction, glossopharyngeal IX, head, heart, hindbrain, hindgut, hypogastric plexus, hypothalamus, infundibulum, interventricular groove, intraventricular portion, laryngeal, lateral wall, lower, lumen, lung, mantle layer, marginal layer, median eminence, medulla oblongata, medullary tubules, metanephros, midbrain, midgut, nasal septum, neurohypophysis, olfactory, pancreas, pars anterior, pars intermedia, pars nervosa, pars tuberalis, pericardium, physiological umbilical hernia, pituitary, pons, pyloric antrum, pyloric region, respiratory, respiratory system, respiratory tract, rest of alar plate, rostral part, stomach, sulcus limitans, sympathetic, tail, tegmentum, telencephalon, testis, thalamus, thoracic, trigeminal V, turbinate bones, upper, vagus X, ventricular layer, vestibulocochlear VIII, visceral organ	OMIM|182330
EN-PFC1	LMBRD1	0.754558974	1.91E-09	Integral membrane protein	BrainSpLMD|55788	OMIM|612625;HPO|55788|Ataxia, Autosomal recessive inheritance, Cystathioninemia, Cystathioninuria, Decreased adenosylcobalamin, Decreased methionine synthase activity, Decreased methylcobalamin, Developmental regression, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Glossitis, High palate, Homocystinuria, Hyperhomocystinemia, Incoordination, Infantile onset, Lethargy, Low-set ears, Megaloblastic anemia, Megaloblastic bone marrow, Methylmalonic acidemia, Methylmalonic aciduria, Microtia, Muscular hypotonia, Neutropenia, Pancytopenia, Psychosis, Seizures, Skin rash, Stomatitis, Thin upper lip vermilion, Thrombocytopenia
EN-PFC1	BCAP29	1.055259051	1.98E-09	Integral membrane protein	BrainSpLMD|55973;Eurexp|euxassay_000840|dorsal root ganglion, lobe, submandibular gland primordium, thymus primordium, vagus X, ventricular layer, vibrissa	
EN-PFC1	GRM3	0.520683889	2.00E-09	G protein coupled receptor	BrainSpLMD|2913;BrainSpMouseDev|72231	OMIM|601115;COSMIC||melanoma, oral SCC
EN-PFC1	SLCO3A1	1.234577621	2.14E-09	Membrane transport protein	BrainSpLMD|28232;Eurexp|euxassay_000780|cervical, cervico-thoracic, dorsal root ganglion, thoracic, vagus X	OMIM|612435
EN-PFC1	STARD4.AS1	0.366279459	2.23E-09			
EN-PFC1	PKP4	0.944452832	2.27E-09	Cell junction protein	BrainSpLMD|8502	OMIM|604276
EN-PFC1	LRRC37B	0.744426051	2.32E-09	Unclassified		OMIM|616558
EN-PFC1	NIPAL3	0.718511402	2.33E-09	Unclassified	BrainSpLMD|57185;Eurexp|euxassay_001516|bladder, brain, calyces, cervical, cervico-thoracic, dorsal root ganglion, epithelium, foregut-midgut junction, glossopharyngeal IX, hindgut, lobe, lumen, lung, midgut, nucleus pulposus, oesophagus, olfactory, oral epithelium, pelvis, spinal cord, stomach, thoracic, trigeminal V, vagus X	
EN-PFC1	RRAS2	0.282526005	2.36E-09	GTPase	BrainSpLMD|22800;Eurexp|euxassay_010734|thymus primordium	OMIM|600098
EN-PFC1	RP11.33B1.1	0.779094149	2.46E-09			
EN-PFC1	ATP1A1	0.810042362	2.56E-09	ATPase	BrainSpLMD|476;BrainSpMouseDev|11714	OMIM|182310;COSMIC||adrenal aldosterone producing adenoma
EN-PFC1	CLVS1	0.787799675	2.77E-09	Unclassified	BrainSpLMD|157807	OMIM|611292
EN-PFC1	ZNF33B	1.259731526	2.81E-09			OMIM|194522
EN-PFC1	ACVR2A	0.578736314	2.97E-09	Receptor serine/threonine kinase	BrainSpLMD|92;BrainSpMouseDev|11268	OMIM|102581;COSMIC||large intestine carcinoma, stomach carcinoma, pancreatic carcinoma, biliary tract, oesophagus
EN-PFC1	DSTN	0.265761711	3.03E-09	Cytoskeletal associated protein	BrainSpLMD|11034;Eurexp|euxassay_001919|atrium, bladder, brain, cervico-thoracic, dorsal root ganglion, epidermis, epithelium, glossopharyngeal IX, hindgut, midgut, neural retina, oesophagus, olfactory, oral epithelium, pharyngo-tympanic tube, respiratory, spinal cord, stomach, stroma, submandibular gland primordium, thoracic, thymus primordium, thyroid, trachea, trigeminal V, vagus X, ventricle, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, wall	OMIM|609114
EN-PFC1	FAM157C	0.359925159	3.09E-09			
EN-PFC1	CXorf23	0.450123117	3.17E-09			
EN-PFC1	DYRK2	1.221484359	3.24E-09	Tyrosine kinase	BrainSpLMD|8445;Eurexp|euxassay_016272|mantle layer	OMIM|603496
EN-PFC1	BCL7A	0.360213475	3.31E-09	Adapter molecule	Eurexp|euxassay_009092|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, medulla oblongata, metanephros, metencephalon, midbrain, molar, neural retina, olfactory, spinal cord, telencephalon, thymus primordium, thyroid, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|601406;COSMIC||BNHL
EN-PFC1	MDH1	0.304703907	3.33E-09	Enzyme: Dehydrogenase	BrainSpLMD|4190	OMIM|154200
EN-PFC1	BAIAP2.AS1	0.583513899	3.66E-09			
EN-PFC1	ZNF793	0.371399573	3.69E-09	DNA binding protein	BrainSpLMD|390927	
EN-PFC1	PAQR3	0.489106269	3.91E-09	Integral membrane protein	BrainSpLMD|152559	OMIM|614577
EN-PFC1	CTA.228A9.3	1.02912806	4.00E-09			
EN-PFC1	CBWD1	0.517776156	4.31E-09	Unclassified	Eurexp|euxassay_003579|vibrissa	OMIM|611078
EN-PFC1	LRCH1	1.051164941	4.41E-09	Unclassified	BrainSpLMD|23143	OMIM|610368
EN-PFC1	RP3.399L15.3	0.674175191	4.60E-09			
EN-PFC1	NUDT3	0.400435946	4.71E-09	Enzyme: Hydrolase	BrainSpLMD|11165	OMIM|609228
EN-PFC1	FBXL2	0.908082344	4.86E-09	Ubiquitin proteasome system protein	BrainSpLMD|25827;Eurexp|euxassay_015900|dorsal root ganglion, glossopharyngeal IX, trigeminal V	OMIM|605652
EN-PFC1	STXBP1	0.338950949	5.30E-09	Transport/cargo protein	BrainSpLMD|6812	SFARI||Autism, 3 - Suggestive evidence;OMIM|602926;HPO|6812|Absent speech, Ataxia, Autosomal dominant inheritance, Cerebral atrophy, Cerebral hypomyelination, Cutaneous photosensitivity, Developmental regression, EEG abnormality, EEG with burst suppression, Epileptic encephalopathy, Epileptic spasms, Febrile seizures, Focal clonic seizures, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic seizures, Generalized tonic-clonic seizures, Hypoplasia of the corpus callosum, Hypsarrhythmia, Impaired horizontal smooth pursuit, Infantile encephalopathy, Intellectual disability, severe, Muscular hypotonia, Neonatal onset, Neurodevelopmental delay, Obtundation status, Pschomotor retardation, Severe global developmental delay, Spastic paraplegia, Spastic tetraplegia, Status epilepticus, Tremor, Variable expressivity
EN-PFC1	SNX10	1.37351699	5.56E-09	Transport/cargo protein	BrainSpLMD|29887	OMIM|614780;HPO|29887|Abnormal blistering of the skin, Abnormality of epiphysis morphology, Abnormality of hair texture, Abnormality of temperature regulation, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of visual evoked potentials, Anemia, Autosomal recessive inheritance, Bone pain, Bowing of the long bones, Chronic rhinitis, Craniosynostosis, Delayed eruption of teeth, Facial palsy, Failure to thrive, Feeding difficulties, Frontal bossing, Growth delay, Hearing impairment, Hepatomegaly, Hydrocephalus, Lymphadenopathy, Macrocephaly, Narrow chest, Nystagmus, Opsoclonus, Optic atrophy, Optic nerve compression, Osteopetrosis, Otitis media, Pallor, Premature loss of primary teeth, Recurrent fractures, Recurrent respiratory infections, Reduced bone mineral density, Splenomegaly, Thrombocytopenia, Tremor, Visual impairment
EN-PFC1	R3HDM1	0.718596684	5.74E-09	Unclassified	BrainSpLMD|23518	
EN-PFC1	CBWD2	0.481798866	5.84E-09	Unclassified		OMIM|611079
EN-PFC1	CDKL5	0.393099361	6.03E-09	Serine/threonine kinase	BrainSpLMD|6792	SFARI||Autism, No category;OMIM|300203;HPO|6792|Abnormality of movement, Abnormality of skin morphology, Abnormality of the antitragus, Abnormality of the fingernails, Abnormality of the metacarpal bones, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Broad forehead, Camptodactyly of finger, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Constipation, Deeply set eye, Developmental regression, EEG abnormality, Epileptic encephalopathy, Fine hair, Gastroesophageal reflux, Generalized hypotonia, Generalized myoclonic seizures, Global developmental delay, Hearing impairment, Hyperventilation, Hypsarrhythmia, Inability to walk, Infantile onset, Infantile spasms, Intellectual disability, Intellectual disability, profound, Long philtrum, Microcephaly, Multifocal seizures, Myoclonus, Nephrolithiasis, Poor eye contact, Progressive microcephaly, Prominent forehead, Scoliosis, Seizures, Short foot, Short palm, Small hand, Spasticity, Stereotypy, Tapered finger, Thick lower lip vermilion, Thick vermilion border, Underdeveloped nasal alae, Ventriculomegaly, Wide mouth, Wide nose, X-linked dominant inheritance
EN-PFC1	VDAC3	0.288530379	6.64E-09	Voltage gated channel	BrainSpLMD|7419;Eurexp|euxassay_007065|embryo	OMIM|610029
EN-PFC1	SYT6	1.379438118	6.97E-09	Calcium binding protein	BrainSpLMD|148281	OMIM|607718
EN-PFC1	UNC79	0.37229362	7.06E-09	Unclassified	BrainSpLMD|57578	OMIM|616884
EN-PFC1	PTBP3	0.316063807	7.43E-09	RNA binding protein	BrainSpLMD|9991;Eurexp|euxassay_001898|cortex, liver, lobe, olfactory, pelvis, thymus primordium, trigeminal V, vibrissa	OMIM|607527
EN-PFC1	EDEM3	0.554042828	7.54E-09	Enzyme: Hydrolase	BrainSpLMD|80267	OMIM|610214
EN-PFC1	PAK7	0.603659109	7.68E-09			
EN-PFC1	KIF21B	0.278672022	7.84E-09	Unclassified	BrainSpLMD|23046;Eurexp|euxassay_011005|dorsal root ganglion, facial VII, forebrain, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|608322
EN-PFC1	ZNF91	0.267147199	7.91E-09	Transcription regulatory protein	BrainSpLMD|7644	OMIM|603971
EN-PFC1	CMIP	0.482814341	8.33E-09		BrainSpLMD|80790	SFARI||Autism, No category;OMIM|610112
EN-PFC1	BDP1	0.332622212	8.50E-09	Transcription factor	BrainSpLMD|55814;Eurexp|euxassay_019513|dorsal root ganglion, incisor, lung, midgut, nucleus pulposus, submandibular gland primordium, vibrissa	OMIM|607012
EN-PFC1	ULK3	0.353874964	8.67E-09	Serine/threonine kinase	BrainSpLMD|25989	OMIM|613472
EN-PFC1	TSPAN2	1.287593573	9.05E-09	Integral membrane protein	BrainSpLMD|10100;Eurexp|euxassay_012916|pituitary	OMIM|613133
EN-PFC1	FUT9	0.464671578	9.45E-09	Enzyme: Fucosyltransferase	BrainSpLMD|10690	OMIM|606865
EN-PFC1	PRNP	1.471435625	9.55E-09	Membrane bound ligand	BrainSpLMD|5621;Eurexp|euxassay_007857|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, mantle layer, metanephros, neural retina, olfactory, thoracic, tongue, trachea, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ;BrainSpMouseDev|18885	OMIM|176640;HPO|5621|Abdominal symptom, Adult onset, Aggressive behavior, Akinetic mutism, Anxiety, Apathy, Aphasia, Apnea, Apraxia, Areflexia, Astrocytosis, Ataxia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Babinski sign, Basal ganglia gliosis, Bradykinesia, Central nervous system degeneration, Cerebellar atrophy, Childhood onset, Chorea, Clumsiness, Confusion, Constipation, Deficit in phonologic short-term memory, Delusions, Dementia, Depressivity, Diffuse spongiform leukoencephalopathy, Diplopia, Dysarthria, Dysautonomia, Dysmetria, Dysphagia, EEG with persistent abnormal rhythmic activity, Emotional lability, Encephalopathy, Extrapyramidal muscular rigidity, Fever, Focal T2 hyperintense basal ganglia lesion, Gait ataxia, Gliosis, Global brain atrophy, Hallucinations, Hemiparesis, Hyperhidrosis, Hyperreflexia, Hypersomnia, Impaired smooth pursuit, Incoordination, Insomnia, Irritability, Jaw pain, Limb ataxia, Loss of facial expression, Lower limb muscle weakness, Memory impairment, Muscle weakness, Myoclonus, Neurofibrillary tangles, Neuronal loss in central nervous system, Parkinsonism, Perseveration, Personality changes, Phenotypic variability, Poor visual behavior for age, Progressive cerebellar ataxia, Progressive extrapyramidal muscular rigidity, Progressive forgetfulness, Psychosis, Rapidly progressive, Restlessness, Rigidity, Seizures, Senile plaques, Short attention span, Sleep disturbance, Slurred speech, Spastic dysarthria, Spastic hemiparesis, Spasticity, Specific learning disability, Stroke-like episode, Supranuclear gaze palsy, Tremor, Truncal ataxia, Unsteady gait, Urinary retention, Visual impairment, Weight loss
EN-PFC1	FAM45A	0.52136929	9.79E-09	Unclassified		
EN-PFC1	B4GALT5	0.355471997	9.80E-09	Enzyme: Galactosyltransferase	BrainSpLMD|9334;Eurexp|euxassay_010321|basal columns, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, larynx, mantle layer, olfactory, stomach, trigeminal V, vagus X, valve	OMIM|604016
EN-PFC1	SLC17A7	0.747518635	1.00E-08	Transport/cargo protein	BrainSpLMD|57030;BrainSpMouseDev|48802	OMIM|605208
EN-PFC1	PRICKLE1	1.074408482	1.04E-08	Nuclear receptor	BrainSpLMD|144165;Eurexp|euxassay_009520|basal columns, ductus deferens, epithelium, incisor, mantle layer, marginal layer, metatarsus, naris, otic capsule, penis, phalanx, pituitary, renal/urinary system, turbinate bones, urethra, valve	SFARI||Autism, 3 - Suggestive evidence;OMIM|608500;HPO|144165|Atonic seizures, Autosomal recessive inheritance, Babinski sign, Dysarthria, Dysmetria, EEG with polyspike wave complexes, Generalized myoclonic seizures, Intention tremor, Limb ataxia, Morning myoclonic jerks, Progressive, Sensory axonal neuropathy, Tremor
EN-PFC1	PKIA	0.820049961	1.10E-08	Enzyme regulator	BrainSpLMD|5569;Eurexp|euxassay_018045|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mesenchyme, neural retina, olfactory, spinal cord, stroma, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|606059
EN-PFC1	NFIX	0.355633586	1.13E-08	Transcription factor	BrainSpLMD|4784;BrainSpMouseDev|17799	SFARI||Autism, No category;OMIM|164005;HPO|4784|Accelerated skeletal maturation, Advanced eruption of teeth, Agenesis of corpus callosum, Anteverted nares, Anxiety, Astigmatism, Atlantoaxial dislocation, Atrial septal defect, Autosomal dominant inheritance, Blue sclerae, Bullet-shaped middle phalanges of the hand, Cerebral atrophy, Choanal atresia, Choanal stenosis, Coxa valga, Cutis marmorata, Death in childhood, Decreased body weight, Delayed speech and language development, Depressed nasal bridge, Distal widening of metacarpals, Downslanted palpebral fissures, Eclabion, Everted lower lip vermilion, Failure to thrive, Frontal bossing, Generalized hypotonia, Gingival overgrowth, Glossoptosis, Hearing impairment, High forehead, Hypermetropia, Hypoplasia of the odontoid process, Intellectual disability, Irregular dentition, Large sternal ossification centers, Laryngomalacia, Long face, Long fingers, Low-set ears, Macrocephaly, Macrogyria, Malar flattening, Mandibular prognathia, Midface retrusion, Motor delay, Narrow face, Narrow mouth, Nystagmus, Obstructive sleep apnea, Omphalocele, Overfolded helix, Overgrowth, Patent ductus arteriosus, Pectus excavatum, Prominence of the premaxilla, Prominent forehead, Pulmonary arterial hypertension, Recurrent aspiration pneumonia, Retrognathia, Scoliosis, Shallow orbits, Short distal phalanx of finger, Short mandibular rami, Short nose, Short philtrum, Short sternum, Slender long bone, Sporadic, Strabismus, Synophrys, Tall stature, Thick eyebrow, Umbilical hernia, Ventriculomegaly
EN-PFC1	PLK2	0.252702662	1.14E-08	Serine/threonine kinase	BrainSpLMD|10769;Eurexp|euxassay_015918|bladder, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, lung, mandible, mantle layer, maxilla, mesenchyme, olfactory, pancreas, sternum, ventral grey horn, vibrissa	OMIM|607023
EN-PFC1	NRP2	1.739116182	1.19E-08	Cell surface receptor	BrainSpLMD|8828;Eurexp|euxassay_009620|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V;BrainSpMouseDev|17954	SFARI||Autism, 4 - Minimal evidence;OMIM|602070
EN-PFC1	SRRM3	0.677300728	1.33E-08	Unclassified	BrainSpLMD|222183	
EN-PFC1	SLC9B2	1.129833736	1.35E-08	Unclassified	BrainSpLMD|133308;Eurexp|euxassay_006992|femur, incisor, lip, mandible, maxilla, stomach	OMIM|611789
EN-PFC1	LHX4.AS1	0.805372764	1.45E-08			
EN-PFC1	C2orf80	1.08957967	1.46E-08	Unclassified		OMIM|615536
EN-PFC1	CAMK2B	1.306450808	1.52E-08	Serine/threonine kinase	BrainSpLMD|816;Eurexp|euxassay_009572|brain, calyces, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, extraembryonic component, facial VII, glossopharyngeal IX, mesenchyme, midgut, neural retina, olfactory, paraxial mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|607707
EN-PFC1	ZMYM2	0.56611451	1.65E-08	Unclassified;Transcription regulatory protein	BrainSpLMD|7750	OMIM|602221;COSMIC||MPN, NHL
EN-PFC1	PAIP1	0.357952817	1.70E-08	Translation regulatory protein	BrainSpLMD|10605	OMIM|605184
EN-PFC1	GFOD1	1.275725634	1.70E-08	Enzyme: Oxidoreductase	BrainSpLMD|54438	
EN-PFC1	KIT	1.288329717	1.85E-08	Receptor tyrosine kinase	BrainSpLMD|3815;BrainSpMouseDev|16363	SFARI||Autism, No category;OMIM|164920;COSMIC||GIST, AML, TGCT, mastocytosis, mucosal melanoma, GIST, epithelioma, Piebald trait;HPO|3815|Abnormal blistering of the skin, Abnormality of metabolism/homeostasis, Abnormality of the ear, Absent pigmentation of the ventral chest, Acute myeloid leukemia, Aganglionic megacolon, Autosomal dominant inheritance, Chronic myelogenous leukemia, Chronic myelomonocytic leukemia, Constipation, Cryptorchidism, Cutaneous mastocytosis, Dysphagia, Eosinophilia, Erythema, Erythroderma, Fatigue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Gonadal dysgenesis, Heterochromia iridis, Hypermelanotic macule, Hyperpigmentation of the skin, Hypopigmented skin patches, Intestinal obstruction, Large hands, Macule, Mastocytosis, Myelodysplasia, Nausea and vomiting, Neoplasm, Neoplasm of the stomach, Neurofibromas, Partial albinism, Piebaldism, Profuse pigmented skin lesions, Pruritus, Sarcoma, Somatic mutation, Sporadic, Subcutaneous nodule, Telangiectasia macularis eruptiva perstans, Teratoma, Thickened skin, Urticaria, White eyebrow, White eyelashes, White forelock
EN-PFC1	SPINT2	1.022160329	1.88E-08	Protease inhibitor	BrainSpLMD|10653;Eurexp|euxassay_010770|bladder, calyces, choroid invagination, choroid plexus, cochlea, cornea, ductus deferens, ear, epidermis, epithelium, incisor, larynx, left lung, mantle layer, metanephros, midgut, molar, olfactory, oral epithelium, pancreas, pelvis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, respiratory, right lung, roof plate, stomach, submandibular gland primordium, thymus primordium, thyroid, urethra, utricle, ventricle, vibrissa, vomeronasal organ;BrainSpMouseDev|20495	OMIM|605124;HPO|10653|Abdominal distention, Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Choanal atresia, Corneal erosion, Hypertelorism, Polyhydramnios, Secretory diarrhea
EN-PFC1	EPB41L4A	0.925358876	1.91E-08	Structural protein	BrainSpLMD|64097;Eurexp|euxassay_010576|anterior, basal columns, cervical, cervico-thoracic, choroid invagination, choroid plexus, dorsal root ganglion, ear, facial VII, glossopharyngeal IX, incisor, lens, mantle layer, marginal layer, midgut, molar, neural retina, olfactory, rectum, rest of skin, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|612141
EN-PFC1	RP11.25K19.1	1.39225359	1.96E-08			
EN-PFC1	SAMD8	0.291440727	2.07E-08	Integral membrane protein	BrainSpLMD|142891	OMIM|611575
EN-PFC1	TTC39C	0.472153374	2.13E-08	Unclassified	BrainSpLMD|125488;Eurexp|euxassay_007378|anterior, brain, clavicle, dorsal root ganglion, external, facial VII, glossopharyngeal IX, medulla, primitive seminiferous tubules, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	
EN-PFC1	LLNLF.187D8.1	0.756193758	2.13E-08			
EN-PFC1	NFIA.AS1	1.611464853	2.20E-08			
EN-PFC1	GLRA2	0.701178835	2.30E-08	Extracellular ligand gated channel	BrainSpLMD|2742;Eurexp|euxassay_006123|brain, spinal cord;BrainSpMouseDev|88304	SFARI||Autism, 5 - Hypothesized but untested;OMIM|305990
EN-PFC1	MORN4	0.629769125	2.41E-08	Unclassified	BrainSpLMD|118812;Eurexp|euxassay_007046|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|617736
EN-PFC1	GLG1	0.251808368	2.55E-08	Integral membrane protein	BrainSpLMD|2734	OMIM|600753
EN-PFC1	FNDC3A	0.381639444	2.62E-08	Integral membrane protein	BrainSpLMD|22862;Eurexp|euxassay_010190|footplate, handplate, inner ear, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, submandibular gland primordium;BrainSpMouseDev|106383	OMIM|615794
EN-PFC1	IFT20	0.684545357	2.67E-08	Unclassified	BrainSpLMD|90410	OMIM|614394
EN-PFC1	CDKL2	0.915911244	2.86E-08	Serine/threonine kinase	BrainSpLMD|8999	OMIM|603442
EN-PFC1	AC240274.1	0.327764503	3.12E-08			
EN-PFC1	ZNF883	0.924115728	3.31E-08	Unclassified		
EN-PFC1	CDK17	0.659760175	3.32E-08	Serine/threonine kinase	BrainSpLMD|5128	OMIM|603440
EN-PFC1	VLDLR	0.84734245	3.59E-08	Cell surface receptor	BrainSpLMD|7436;Eurexp|euxassay_018469|clavicle, cortex, ductus deferens, incisor, mandible, mantle layer, marginal layer, maxilla, neural retina, olfactory, orbito-sphenoid, rib, ureter, ventral grey horn, ventricular layer, vomeronasal organ, wall	SFARI||Autism, 5 - Hypothesized but untested;OMIM|192977;HPO|7436|Abnormality of metabolism/homeostasis, Ataxia, Autosomal recessive inheritance, Broad-based gait, Cataract, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral palsy, Congenital onset, Cortical gyral simplification, Delayed speech and language development, Dysarthria, Dysdiadochokinesis, Dysmetria, Gait ataxia, Gait disturbance, Gaze-evoked nystagmus, Generalized hypotonia, Global developmental delay, Hyperreflexia, Hypoplasia of the brainstem, Intellectual disability, Intention tremor, Muscular hypotonia, Nonprogressive, Pachygyria, Pes planus, Poor speech, Seizures, Short stature, Skeletal muscle atrophy, Strabismus, Truncal ataxia
EN-PFC1	SLC38A6	0.45804751	3.74E-08	Membrane transport protein	BrainSpLMD|145389;Eurexp|euxassay_019724|metacarpus, phalanx	OMIM|616518
EN-PFC1	FTO	0.449007123	3.78E-08	Unclassified	BrainSpLMD|79068	OMIM|610966;HPO|79068|Anteverted nares, Autosomal recessive inheritance, Bifid uvula, Brachydactyly, Cleft palate, Coarse facial features, Cryptorchidism, Cutis marmorata, Dandy-Walker malformation, Failure to thrive, Global developmental delay, Hydrocephalus, Hypertonia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Lissencephaly, Macroglossia, Microcephaly, Obesity, Patent ductus arteriosus, Protruding tongue, Retrognathia, Seizures, Sensorineural hearing impairment, Short neck, Skull asymmetry, Small nail, Umbilical hernia, Ventricular septal defect
EN-PFC1	PHYHIPL	0.721048684	3.85E-08	Unclassified;Integral membrane protein	BrainSpLMD|84457;Eurexp|euxassay_002109|brain, dorsal root ganglion, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	
EN-PFC1	GDPD1	0.587784202	3.87E-08	Enzyme: Catalase	BrainSpLMD|284161;Eurexp|euxassay_009145|bladder, brain, calyces, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, medulla, midgut, molar, olfactory, rectum, retina, spinal cord, stomach, submandibular gland primordium, thoracic, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|616317
EN-PFC1	TNRC6C	0.526084373	3.94E-08	RNA binding protein	BrainSpLMD|57690	OMIM|610741
EN-PFC1	CELF5	0.445727148	3.99E-08	RNA binding protein	BrainSpLMD|60680	OMIM|612680
EN-PFC1	MTMR4	0.317428496	4.00E-08	Dual specificity phosphatase	BrainSpLMD|9110	OMIM|603559
EN-PFC1	ZNF891	0.616730765	4.40E-08			
EN-PFC1	MAP6	0.386361115	4.60E-08	Cytoskeletal associated protein	BrainSpLMD|4135;Eurexp|euxassay_000634|cochlear component, dorsal root ganglion, facial VII, inferior, neural retina, olfactory, superior, trigeminal V, vestibular component	OMIM|601783
EN-PFC1	SOBP	0.905204578	4.80E-08	Unclassified	BrainSpLMD|55084	OMIM|613667;HPO|55084|Autosomal recessive inheritance, Delayed speech and language development, Global developmental delay, Intellectual disability, severe, Open bite, Poor speech, Short attention span
EN-PFC1	HOMER1	0.763559211	5.16E-08	Adapter molecule	BrainSpLMD|9456;BrainSpMouseDev|26303	SFARI||Autism, 4 - Minimal evidence;OMIM|604798
EN-PFC1	MCTS1	0.566175335	5.38E-08	Cell cycle control protein	BrainSpLMD|28985	OMIM|300587
EN-PFC1	ENO2	0.409650706	5.41E-08	Enzyme: Hydratase	BrainSpLMD|2026;Eurexp|euxassay_018457|dorsal root ganglion, facial VII, mantle layer, trigeminal V, vagus X, ventral grey horn	OMIM|131360
EN-PFC1	WRB	0.549097289	5.68E-08	Unclassified	BrainSpLMD|7485;Eurexp|euxassay_005059|brain, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, loop, mandible, maxilla, midgut, orbito-sphenoid, rectum, spinal cord, stomach, trigeminal V, vagus X, vestibulocochlear VIII, wall	OMIM|602915
EN-PFC1	UNC80	0.84559132	5.86E-08	Unclassified	BrainSpLMD|285175	SFARI||Autism, 4 - Minimal evidence;OMIM|612636;HPO|285175|Anteverted nares, Autosomal recessive inheritance, Brachycephaly, Broad forehead, Bulbous nose, Constipation, Epicanthus, Failure to thrive in infancy, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global brain atrophy, High forehead, Intellectual disability, profound, Low-set ears, Nystagmus, Open mouth, Osteopenia, Plagiocephaly, Posteriorly rotated ears, Profound static encephalopathy, Prominent forehead, Prominent nasal bridge, Prominent nose, Ptosis, Short neck, Short philtrum, Smooth philtrum, Spasticity, Tapered finger, Thin upper lip vermilion, Triangular face
EN-PFC1	SULT1A1	1.648665939	6.05E-08	Enzyme: Sulphotransferase	BrainSpLMD|6817	OMIM|171150
EN-PFC1	PCDH10	1.202664922	6.23E-08	Adhesion molecule	BrainSpLMD|57575;Eurexp|euxassay_016446|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, rib, trigeminal V, ventral grey horn;BrainSpMouseDev|18292	SFARI||Autism, 4 - Minimal evidence;OMIM|608286
EN-PFC1	HERC4	0.315977263	6.48E-08	Ubiquitin proteasome system protein	BrainSpLMD|26091	OMIM|609248
EN-PFC1	RP11.110G21.2	0.432342335	6.48E-08			
EN-PFC1	PAPOLG	0.38949313	6.70E-08	RNA polymerase	BrainSpLMD|64895	OMIM|616865
EN-PFC1	OLFM1	1.083777553	8.39E-08	Unclassified	BrainSpLMD|10439;Eurexp|euxassay_003026|axial skeleton, cervical, cervico-thoracic, diaphragm, diencephalon, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, hindbrain, incisor, limb, mantle layer, marginal layer, midbrain, molar, neural retina, nucleus pulposus, olfactory, pectoral girdle and thoracic body wall, spinal cord, stroma, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|605366
EN-PFC1	RNF150	0.347471988	8.40E-08	Ubiquitin proteasome system protein	Eurexp|euxassay_014053|dorsal grey horn, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn, vestibulocochlear VIII	
EN-PFC1	HIVEP1	0.546805727	8.40E-08	Transcription regulatory protein	BrainSpLMD|3096;BrainSpMouseDev|74677	OMIM|194540
EN-PFC1	GNAQ	0.378117145	8.70E-08	G protein	BrainSpLMD|2776	OMIM|600998;COSMIC||uveal melanoma, primary central nervous system melanocytic neoplasms;HPO|2776|Arachnoid hemangiomatosis, Arteriovenous malformation, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Buphthalmos, Capillary hemangiomas, Cerebral cortical atrophy, Choroidal hemangioma, Choroidal melanoma, Ciliary body melanoma, Facial hemangioma, Glaucoma, Hypermelanotic macule, Hyperreflexia, Intellectual disability, Iris melanoma, Macrocephaly, Nevus flammeus, Optic atrophy, Papule, Retinal detachment, Seizures, Sporadic, Strabismus, Stroke, Visual loss
EN-PFC1	AKAP11	0.529627484	9.06E-08	Anchor protein	BrainSpLMD|11215;Eurexp|euxassay_007645|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|604696
EN-PFC1	SHOC2	0.616365462	9.16E-08	Adapter molecule	BrainSpLMD|8036;Eurexp|euxassay_004370|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	OMIM|602775;HPO|8036|Anteverted nares, Aplasia/Hypoplasia of the eyebrow, Atrial septal defect, Autosomal dominant inheritance, Deep philtrum, Delayed skeletal maturation, Epicanthus, Hydrocephalus, Hyperactivity, Hypertelorism, Hypertrophic cardiomyopathy, Intellectual disability, Loose anagen hair, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Pectus excavatum, Polyhydramnios, Posteriorly rotated ears, Prominent forehead, Pulmonic stenosis, Short neck, Short nose, Short stature, Sparse scalp hair, Strabismus, Ventricular septal defect, Webbed neck
EN-PFC1	MIR137HG	1.381649248	9.44E-08		BrainSpLMD|400765	
EN-PFC1	PRMT2	0.316464269	9.86E-08	Enzyme: Methyltransferase	BrainSpLMD|3275	OMIM|601961
EN-PFC1	AB019441.29	0.522322798	1.09E-07			
EN-PFC1	FRMD4A	0.653901234	1.16E-07	Cytoskeletal associated protein	BrainSpLMD|55691;Eurexp|euxassay_001880|dorsal root ganglion, glossopharyngeal IX, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|616305;HPO|55691|Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Ataxia, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Congenital microcephaly, Everted lower lip vermilion, Global developmental delay, Hirsutism, Intellectual disability, Long eyelashes, Low anterior hairline, Low-set ears, Narrow forehead, Posteriorly rotated ears, Protruding ear, Sparse hair, Strabismus, Thick eyebrow, Upper eyelid edema
EN-PFC1	ROBO2	0.419591558	1.18E-07	Cell surface receptor	BrainSpMouseDev|92611	SFARI||Autism, 3 - Suggestive evidence;OMIM|602431;COSMIC||colorectal adenocarcinoma, melanoma;HPO|6092|Autosomal dominant inheritance, Renal hypoplasia, Vesicoureteral reflux
EN-PFC1	TMEM130	1.565236455	1.22E-07	Unclassified	BrainSpLMD|222865;Eurexp|euxassay_012940|brain, dorsal root ganglion, facial VII, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	
EN-PFC1	LSM11	1.316864316	1.24E-07	RNA binding protein	BrainSpLMD|134353;Eurexp|euxassay_002656|femur, nucleus pulposus, pectoral girdle and thoracic body wall, rib, turbinate bones	
EN-PFC1	CALM3	0.555624663	1.28E-07	Calcium binding protein	BrainSpLMD|808	OMIM|114183;HPO|808|Ventricular tachycardia, Vertigo
EN-PFC1	WLS	0.443827363	1.30E-07	Integral membrane protein	BrainSpLMD|79971	OMIM|611514
EN-PFC1	YTHDC2	0.458790741	1.35E-07	Unclassified	BrainSpLMD|64848	SFARI||Autism, No category;OMIM|616530
EN-PFC1	TMEM163	1.604324491	1.39E-07	Unclassified	BrainSpLMD|81615	
EN-PFC1	TNPO2	0.464042698	1.49E-07	Transport/cargo protein	BrainSpLMD|30000	OMIM|603002
EN-PFC1	TUBE1	0.689778781	1.54E-07	Cytoskeletal protein	BrainSpLMD|51175;Eurexp|euxassay_012292|palatal shelf, ventricular layer	OMIM|607345
EN-PFC1	TUB	0.514418733	1.59E-07	Transcription regulatory protein	BrainSpLMD|7275	OMIM|601197;HPO|7275|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Astigmatism, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Myopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal dystrophy, Sensorineural hearing impairment, Visual impairment, Wide nasal bridge
EN-PFC1	BEX4	0.587973789	1.66E-07	Adapter molecule	Eurexp|euxassay_006309|calyces, liver, lung, midgut, pancreas, rectum, stomach, submandibular gland primordium, urethra	OMIM|300692
EN-PFC1	RP11.444D3.1	0.64459715	1.67E-07			
EN-PFC1	RAB2A	0.476263946	1.82E-07	GTPase	BrainSpLMD|5862	SFARI||Autism, 3 - Suggestive evidence;OMIM|179509
EN-PFC1	OPHN1	1.067019908	1.92E-07	GTPase activating protein	BrainSpLMD|4983	SFARI||Autism, 3 - Suggestive evidence;OMIM|300127;HPO|4983|Attention deficit hyperactivity disorder, Autism, Cerebellar hypoplasia, Cryptorchidism, Deeply set eye, Delayed speech and language development, Disorganization of the anterior cerebellar vermis, Dysmetria, Enlarged cisterna magna, Frontal bossing, Gait ataxia, Generalized hypotonia, Global developmental delay, Hyperactivity, Hypotelorism, Infantile onset, Intellectual disability, Long face, Long nose, Macrocephaly, Macrotia, Mandibular prognathia, Micropenis, Microphallus, Muscular hypotonia, Neurological speech impairment, Nystagmus, Prominent forehead, Prominent supraorbital ridges, Retrocerebellar cyst, Scrotal hypoplasia, Seizures, Short philtrum, Spasticity, Strabismus, Thin upper lip vermilion, X-linked recessive inheritance
EN-PFC1	KIAA2022	0.695499083	1.97E-07			SFARI||Autism, 3 - Suggestive evidence
EN-PFC1	FAF1	0.456194395	2.03E-07	Adapter molecule	BrainSpLMD|11124	OMIM|604460
EN-PFC1	LYST	0.824029517	2.10E-07	Adapter molecule	BrainSpLMD|1130;Eurexp|euxassay_013972|axial skeleton	OMIM|606897;HPO|1130|Abnormality of coagulation, Abnormality of multiple cell lineages in the bone marrow, Amblyopia, Anemia, Areflexia, Autosomal recessive inheritance, Bruising susceptibility, Cranial nerve paralysis, Decreased nerve conduction velocity, Edema, Epistaxis, Fever, Foot dorsiflexor weakness, Gait disturbance, Generalized hypopigmentation, Giant melanosomes in melanocytes, Gingival bleeding, Gingivitis, Global developmental delay, Hepatomegaly, Hypopigmentation of hair, Hypopigmentation of the skin, Hyporeflexia, Immunodeficiency, Intellectual disability, Iris hypopigmentation, Jaundice, Leukopenia, Lymphadenopathy, Lymphoma, Macular hypoplasia, Neurodegeneration, Neutropenia, Nystagmus, Ocular albinism, Paresthesia, Periodontitis, Peripheral neuropathy, Photophobia, Progressive peripheral neuropathy, Recurrent bacterial skin infections, Recurrent cutaneous abscess formation, Recurrent respiratory infections, Recurrent systemic pyogenic infections, Reduced visual acuity, Seizures, Skin ulcer, Splenomegaly, Strabismus, Thrombocytopenia, Tremor, Visual impairment, White hair
EN-PFC1	VPS41	0.498186299	2.10E-07	Transport/cargo protein	BrainSpLMD|27072	OMIM|605485
EN-PFC1	RP11.212F11.1	0.986060191	2.11E-07			
EN-PFC1	SUZ12P1	0.403319716	2.12E-07		BrainSpLMD|440423	
EN-PFC1	RGS17	0.78759141	2.26E-07	GTPase activating protein	BrainSpLMD|26575	OMIM|607191
EN-PFC1	PSMD14	0.315092255	2.37E-07	Ubiquitin proteasome system protein	BrainSpLMD|10213	OMIM|607173
EN-PFC1	ZFC3H1	0.414068642	2.39E-07	Unclassified	BrainSpLMD|196441	
EN-PFC1	SLC16A7	0.603125176	2.52E-07	Membrane transport protein	Eurexp|euxassay_000705|dorsal root ganglion, facial VII, inferior, stomach, superior, trigeminal V, vagus X, vestibular component	SFARI||Autism, 5 - Hypothesized but untested;OMIM|603654
EN-PFC1	FSTL5	1.108764674	2.56E-07	Extracellular matrix protein	BrainSpLMD|56884	
EN-PFC1	ATPIF1	0.653672375	2.72E-07			
EN-PFC1	PREPL	0.302431534	2.73E-07	Serine protease	BrainSpLMD|9581;Eurexp|euxassay_004469|bladder, brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, retina, spinal cord, thoracic, tongue, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII	OMIM|609557;HPO|9581|Autosomal recessive inheritance, Congenital onset, Cystinuria, Decreased fetal movement, Depressed nasal bridge, Dolichocephaly, Epicanthus, Failure to thrive, Fatigue, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, Growth delay, Growth hormone deficiency, Hypocalcemia, Hypogonadism, Intellectual disability, moderate, Lactic acidosis, Long eyelashes, Low-set, posteriorly rotated ears, Mitochondrial respiratory chain defects, Motor delay, Muscular hypotonia, Nasal speech, Nephrolithiasis, Polyphagia, Ptosis, Retrognathia, Seizures, Short stature, Tented upper lip vermilion
EN-PFC1	LRRC37A	0.402068543	2.73E-07	Unclassified		OMIM|616555
EN-PFC1	NTRK2	1.196447063	2.76E-07	Receptor tyrosine kinase	BrainSpLMD|4915;BrainSpMouseDev|17979	OMIM|600456;HPO|4915|Autosomal dominant inheritance, Facial asymmetry, Obesity, Polyphagia, Severe global developmental delay, Stereotypy
EN-PFC1	CERS6	0.491153495	2.82E-07	Transcription regulatory protein	BrainSpLMD|253782	OMIM|615336
EN-PFC1	TIPRL	0.284162428	2.86E-07	Unclassified	BrainSpLMD|261726	OMIM|611807
EN-PFC1	LIN7A	1.54843236	2.91E-07	Adapter molecule	BrainSpLMD|8825;Eurexp|euxassay_011082|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lung, mantle layer, neural retina, penis, pharyngo-tympanic tube, thoracic, trigeminal V, vagus X, ventral grey horn	OMIM|603380
EN-PFC1	CAMTA1	0.503297537	2.98E-07	Unclassified	BrainSpLMD|23261;BrainSpMouseDev|64242	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611501;COSMIC||epithelioid haemangioendothelioma;HPO|23261|Anteverted nares, Autosomal dominant inheritance, Bulbous nose, Cerebral cortical atrophy, Delayed speech and language development, Dysarthria, Dysmetria, Global developmental delay, Intellectual disability, mild, Long face, Long philtrum, Neonatal hypotonia, Pointed chin, Thick lower lip vermilion, Unsteady gait
EN-PFC1	TNPO1	0.370226824	3.03E-07	Transport/cargo protein	BrainSpLMD|3842	OMIM|602901
EN-PFC1	ZDHHC8P1	0.315545934	3.05E-07		BrainSpLMD|150244	
EN-PFC1	SPCS3	0.854197944	3.13E-07	Protease	BrainSpLMD|60559	
EN-PFC1	NDRG4	0.618090628	3.22E-07	Enzyme: Hydrolase;Cell cycle control protein	BrainSpLMD|65009;Eurexp|euxassay_015917|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mantle layer, neural retina, trigeminal V, ventral grey horn, vestibulocochlear VIII	OMIM|614463
EN-PFC1	EFR3B	0.479189587	3.34E-07	Unclassified	BrainSpLMD|22979	OMIM|616797
EN-PFC1	LRRC4	0.798504467	3.37E-07	Ligand	BrainSpLMD|64101;Eurexp|euxassay_011130|brain, inner ear, metanephros, spinal cord, vibrissa;BrainSpMouseDev|82847	OMIM|610486
EN-PFC1	VPS29	0.360299612	3.48E-07	Transport/cargo protein;Enzyme: Hydrolase	BrainSpLMD|51699;Eurexp|euxassay_003692|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|606932
EN-PFC1	UPF3A	0.519911217	3.59E-07	RNA binding protein	BrainSpLMD|65110	OMIM|605530
EN-PFC1	SV2A	0.939876769	3.60E-07	Integral membrane protein	BrainSpLMD|9900	OMIM|185860
EN-PFC1	RP11.999E24.3	0.837479742	3.63E-07			
EN-PFC1	OSBPL6	0.984321562	3.72E-07	Transport/cargo protein	BrainSpLMD|114880;Eurexp|euxassay_000065|adrenal gland, cerebral cortex, dorsal root ganglion, epithelium, excretory component, facial VII, glossopharyngeal IX, hypothalamus, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lateral wall, nasal cavity, neural retina, oesophagus, olfactory lobe, pituitary, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|606734
EN-PFC1	OTUD6B.AS1	0.436328551	3.74E-07			
EN-PFC1	MNAT1	0.571695903	3.91E-07	Cell cycle control protein	BrainSpLMD|4331	OMIM|602659
EN-PFC1	RAB3C	0.656148919	3.91E-07	GTPase	BrainSpLMD|115827;Eurexp|euxassay_009433|brain, dorsal root ganglion, olfactory, spinal cord	OMIM|612829
EN-PFC1	ARL17B	0.89630194	4.01E-07			
EN-PFC1	RP11.806K15.1	0.506679961	4.26E-07			
EN-PFC1	FAM135A	0.360338919	4.27E-07	Unclassified	BrainSpLMD|57579	
EN-PFC1	RSRP1	0.338712592	4.68E-07	Unclassified	BrainSpLMD|57035	
EN-PFC1	STMN4	1.017838374	4.85E-07	Unclassified	BrainSpLMD|81551	
EN-PFC1	FAM3C	1.429903485	4.97E-07	Cytokine	BrainSpMouseDev|27743	OMIM|608618
EN-PFC1	PPAPDC1B	0.38474558	5.12E-07			
EN-PFC1	HERC2P9	0.555240761	5.30E-07			
EN-PFC1	AL592183.1	0.936172917	5.38E-07			
EN-PFC1	RC3H2	0.362788925	5.46E-07	DNA binding protein	BrainSpLMD|54542	OMIM|615231
EN-PFC1	PIAS2	0.515348859	5.80E-07	Transcription regulatory protein	BrainSpLMD|9063	OMIM|603567
EN-PFC1	NDUFAF5	0.815034143	6.02E-07	Unclassified	BrainSpLMD|79133	OMIM|612360;HPO|79133|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
EN-PFC1	LRPPRC	0.627972542	6.25E-07	RNA binding protein	BrainSpLMD|10128	SFARI||Autism, No category;OMIM|607544;HPO|10128|Anteverted nares, Ataxia, Autosomal recessive inheritance, CNS demyelination, Delayed speech and language development, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Highly arched eyebrow, Hirsutism, Hyperglycemia, Hypertelorism, Hypoglycemia, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased serum lactate, Infantile onset, Lactic acidosis, Low anterior hairline, Malar flattening, Microvesicular hepatic steatosis, Midface retrusion, Peripheral demyelination, Prominent forehead, Strabismus, Tachypnea, Tremor, Wide nasal bridge
EN-PFC1	TMEM106B	0.492151561	6.28E-07	Unclassified	BrainSpLMD|54664	OMIM|613413;HPO|54664|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Aggressive behavior, Alexia, Anxiety, Apraxia, Collectionism, Depressivity, Disinhibition, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, EEG with continuous slow activity, Echolalia, Emotional blunting, Frontotemporal cerebral atrophy, Frontotemporal dementia, Grammar-specific speech disorder, Hyperorality, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Perseveration, Personality changes, Poor speech, Restlessness, Restrictive behavior, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold
EN-PFC1	FAM227A	0.643620261	6.36E-07			
EN-PFC1	MRPS6	0.922505417	6.64E-07	Ribosomal subunit	BrainSpLMD|64968;Eurexp|euxassay_000228|choroid plexus, metencephalon, telencephalon	OMIM|611973
EN-PFC1	NPTN	0.393919862	6.77E-07	Immunoglobulin	BrainSpLMD|27020	OMIM|612820
EN-PFC1	SPAST	0.504529335	6.84E-07	Cytoskeletal associated protein	BrainSpLMD|6683	SFARI||Autism, 2 - Strong candidate;OMIM|604277;HPO|6683|Aggressive behavior, Agitation, Apathy, Autosomal dominant inheritance, Babinski sign, Degeneration of the lateral corticospinal tracts, Dementia, Depressivity, Disinhibition, Genetic anticipation, Hyperreflexia, Impaired vibration sensation in the lower limbs, Insidious onset, Intellectual disability, Low back pain, Lower limb muscle weakness, Memory impairment, Nystagmus, Paraplegia, Progressive, Spastic gait, Spastic paraplegia, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency, Variable expressivity
EN-PFC1	LSAMP	0.43845954	6.95E-07	Adhesion molecule	BrainSpLMD|4045	OMIM|603241
EN-PFC1	FAM13C	0.551284533	7.02E-07	Unclassified	BrainSpLMD|220965;Eurexp|euxassay_002764|epithelium, marginal layer, olfactory, ventricular layer	
EN-PFC1	PDE5A	0.266628804	7.04E-07	Enzyme: Phosphodiesterase	BrainSpLMD|8654;BrainSpMouseDev|88926	OMIM|603310
EN-PFC1	FBXO44	0.273244378	7.07E-07	Ubiquitin proteasome system protein	BrainSpLMD|93611	OMIM|609111
EN-PFC1	ATP5G1	0.562481228	7.19E-07			
EN-PFC1	RP11.384F7.2	0.352741415	7.67E-07			
EN-PFC1	CTD.2349P21.10	0.287069339	7.85E-07			
EN-PFC1	TEX2	1.038008224	7.95E-07	Unclassified	BrainSpLMD|55852;Eurexp|euxassay_007131|dorsal root ganglion, facial VII, glossopharyngeal IX, left, left lung, neural retina, olfactory, right, right lung, submandibular gland primordium, testis, thymus primordium, thyroid, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	
EN-PFC1	NRSN1	0.768652101	8.08E-07	Integral membrane protein	BrainSpLMD|140767;Eurexp|euxassay_005168|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, nerve, olfactory lobe, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|616630
EN-PFC1	RNF13	0.848360578	8.29E-07	Ubiquitin proteasome system protein	BrainSpLMD|11342;Eurexp|euxassay_010064|ventricular layer	OMIM|609247
EN-PFC1	D4S234E	0.402733791	8.54E-07			
EN-PFC1	PPP1R9A	0.664487708	8.73E-07	Cytoskeletal associated protein	Eurexp|euxassay_012258|choroid plexus, mantle layer, skeletal muscle, ventricular layer	OMIM|602468
EN-PFC1	MAGEH1	0.65978563	8.77E-07	Cell cycle control protein	BrainSpLMD|28986;Eurexp|euxassay_005123|adenohypophysis, brain, cervical, cervico-thoracic, glossopharyngeal IX, mandible, maxilla, olfactory, respiratory, retina, spinal cord, sternum, tail, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|300548
EN-PFC1	RP11.260M2.1	0.688557937	8.80E-07			
EN-PFC1	GLRB	1.279779767	8.82E-07	Intracellular ligand gated channel	BrainSpLMD|2743;BrainSpMouseDev|14434	OMIM|138492;HPO|2743|Autosomal recessive inheritance, Exaggerated startle response, Hypertonia
EN-PFC1	AMN1	0.380849917	9.58E-07	Unclassified	BrainSpLMD|196394	
EN-PFC1	UGCG	0.359585679	9.60E-07	Enzyme: Glycosyltransferase	BrainSpLMD|7357	OMIM|602874
EN-PFC1	INO80D	0.417286172	9.67E-07	Unclassified	BrainSpLMD|54891	
EN-PFC1	PCBP1.AS1	0.367345715	9.73E-07			
EN-PFC1	DLGAP1	0.400271894	9.94E-07	Unclassified	BrainSpLMD|9229	SFARI||Autism, No category;OMIM|605445
EN-PFC1	IKZF2	1.25377282	1.00E-06	Transcription factor	BrainSpLMD|22807	OMIM|606234
EN-PFC1	FKBP1B	1.052818596	1.01E-06	Enzyme: Isomerase		OMIM|600620
EN-PFC1	FBXL17	0.466924529	1.03E-06	Ubiquitin proteasome system protein	BrainSpLMD|64839;Eurexp|euxassay_012091|ventral grey horn, ventricular layer	OMIM|609083
EN-PFC1	ERP44	0.378381696	1.04E-06	Unclassified	BrainSpLMD|23071;Eurexp|euxassay_001975|Meckel's cartilage, incisor, molar, orbito-sphenoid	OMIM|609170
EN-PFC1	COPS3	0.511548864	1.09E-06	Transcription regulatory protein	BrainSpLMD|8533	OMIM|604665
EN-PFC1	ZNF518A	0.358427312	1.09E-06	DNA binding protein		OMIM|617733
EN-PFC1	CBR4	0.32919093	1.12E-06	Unclassified	BrainSpLMD|84869	
EN-PFC1	TMCC1	0.397482767	1.12E-06	Integral membrane protein	BrainSpLMD|23023	OMIM|616242
EN-PFC1	PEG10	0.732987446	1.12E-06	Cell cycle control protein	BrainSpLMD|23089;BrainSpMouseDev|81989	OMIM|609810
EN-PFC1	ZC3H8	0.522133399	1.15E-06	Unclassified	BrainSpLMD|84524	
EN-PFC1	ATP8A2	0.581086348	1.18E-06	ATPase	BrainSpLMD|51761;Eurexp|euxassay_009705|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605870;HPO|51761|Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Cerebral palsy, Congenital onset, Corpus callosum atrophy, Dysarthria, Gait disturbance, Hyperreflexia, Inability to walk, Intellectual disability, Muscular hypotonia, Seizures, Short stature, Skeletal muscle atrophy, Strabismus, Truncal ataxia
EN-PFC1	VPS13C	0.350326969	1.19E-06	Unclassified	BrainSpLMD|54832	OMIM|608879;HPO|54832|Abnormal pyramidal signs, Akinesia, Autosomal recessive inheritance, Cerebral cortical atrophy, Dementia, Lewy bodies, Neurofibrillary tangles, Parkinsonism, Progressive, Resting tremor
EN-PFC1	BTF3L4	0.380324246	1.37E-06	Unclassified	BrainSpLMD|91408;Eurexp|euxassay_006570|embryo	
EN-PFC1	MBD5	0.355813407	1.42E-06	Transcription regulatory protein	BrainSpLMD|55777	SFARI||Autism, 3 - Suggestive evidence;OMIM|611472;HPO|55777|Abnormality of lower lip, Aggressive behavior, Astigmatism, Ataxia, Autosomal dominant inheritance, Brachycephaly, Broad forehead, Bulbous nose, Clinodactyly of the 5th finger, Coarse facial features, Constipation, Cupped ear, Delayed speech and language development, Downturned corners of mouth, Esotropia, Everted lower lip vermilion, Febrile seizures, Feeding difficulties in infancy, Frontal bossing, Generalized hirsutism, Highly arched eyebrow, Hyperactivity, Hypermetropia, Intellectual disability, Intellectual disability, severe, Language impairment, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Microtia, Motor delay, Muscular hypotonia, Myopia, Open mouth, Paroxysmal bursts of laughter, Polyphagia, Postnatal growth retardation, Prominent nose, Protruding ear, Retrognathia, Sandal gap, Seizures, Self-injurious behavior, Short attention span, Short chin, Short foot, Short nose, Short palm, Short stature, Sleep disturbance, Small hand, Stereotypy, Synophrys, Tented upper lip vermilion, Thick eyebrow, Thin upper lip vermilion, Visual impairment, Wide mouth, Widely spaced teeth
EN-PFC1	FBN3	1.059037919	1.42E-06	Calcium binding protein	BrainSpLMD|84467	OMIM|608529
EN-PFC1	OFD1	0.393295929	1.46E-06	Unclassified	BrainSpLMD|8481;Eurexp|euxassay_001435|lung, nasal septum, oral epithelium, urethra	SFARI||Autism, 4 - Minimal evidence;OMIM|300170;HPO|8481|Abnormal cortical gyration, Abnormal electroretinogram, Abnormal heart morphology, Abnormality of color vision, Abnormality of retinal pigmentation, Abnormality of the cerebellum, Abnormality of the retinal vasculature, Abnormality of the rib cage, Abnormality of the testis, Abnormality of toe, Accessory oral frenulum, Agenesis of corpus callosum, Agenesis of permanent teeth, Alopecia, Alveolar ridge overgrowth, Anteverted nares, Arachnoid cyst, Ataxia, Atypical scarring of skin, Bifid tongue, Blindness, Brachydactyly, Broad alveolar ridges, Broad palm, Carious teeth, Cataract, Cerebellar vermis hypoplasia, Cleft palate, Clinodactyly, Clinodactyly of the 5th finger, Coarse facial features, Conductive hearing impairment, Cone-shaped epiphysis, Congenital hip dislocation, Congenital onset, Deep philtrum, Downslanted palpebral fissures, Enlarged cisterna magna, Epicanthus, Facial asymmetry, Facial capillary hemangioma, Feeding difficulties in infancy, Finger syndactyly, Foot polydactyly, Frontal bossing, Generalized hypotonia, Glaucoma, Global developmental delay, Gray matter heterotopias, Growth delay, Hamartoma of tongue, Hearing impairment, Hepatic cysts, Hepatic fibrosis, High palate, Hirsutism, Hydrocephalus, Hyperactive deep tendon reflexes, Hyperinsulinemia, Hypertelorism, Hypertension, Hypodontia, Hypogonadism, Hypoplasia of dental enamel, Hypoplasia of penis, Hypothalamic hamartoma, Increased number of teeth, Inguinal hernia, Intellectual disability, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Keratoconus, Lobulated tongue, Low-set ears, Macrocephaly, Median cleft lip, Microcephaly, Micropenis, Microretrognathia, Milia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Ovarian cyst, Photophobia, Pneumonia, Polycystic kidney dysplasia, Polydactyly, Porencephalic cyst, Postaxial polydactyly, Posteriorly rotated ears, Progressive night blindness, Proteinuria, Radial deviation of finger, Recurrent infections, Recurrent respiratory infections, Recurrent upper respiratory tract infections, Reduced bone mineral density, Rod-cone dystrophy, Scaphocephaly, Seizures, Sensorineural hearing impairment, Short finger, Short neck, Short nose, Short stature, Short toe, Single transverse palmar crease, Small nail, Sparse hair, Syndactyly, Talipes equinovarus, Tapered finger, Telecanthus, Thick vermilion border, Thickened nuchal skin fold, Thin upper lip vermilion, Tongue nodules, U-Shaped upper lip vermilion, Underdeveloped nasal alae, Wide intermamillary distance, Wide mouth, Wide nasal bridge, Wide nose, X-linked dominant inheritance, X-linked recessive inheritance
EN-PFC1	ATRNL1	0.550876579	1.50E-06	Integral membrane protein	BrainSpLMD|26033	SFARI||Autism, 5 - Hypothesized but untested;OMIM|612869
EN-PFC1	SEMA6A	0.25964648	1.53E-06	Integral membrane protein	BrainSpLMD|57556;Eurexp|euxassay_011666|axial skeleton, clavicle, cochlea, mandible, mantle layer, marginal layer, maxilla, meninges, mesenchyme, metanephros, neural retina, palatal shelf, skeletal muscle, submandibular gland primordium, thyroid, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|20121	OMIM|605885
EN-PFC1	GPHN	0.272378033	1.57E-06	Anchor protein;Unclassified	BrainSpLMD|10243;Eurexp|euxassay_000272|marginal layer, ventral grey horn	SFARI||Autism, 3 - Suggestive evidence;OMIM|603930;COSMIC||AL;HPO|10243|Apnea, Aspiration, Autosomal dominant inheritance, Autosomal recessive inheritance, Exaggerated startle response, Feeding difficulties, Frequent falls, Generalized tonic-clonic seizures, Hip dislocation, Hyperreflexia, Hypertonia, Hypokinesia, Infantile onset, Inguinal hernia, Molybdenum cofactor deficiency, Muscular hypotonia of the trunk, Myoclonus, Polymicrogyria, Poor eye contact, Poor head control, Seizures, Spontaneous abortion, Umbilical hernia
EN-PFC1	IDS	0.361916772	1.59E-06	Enzyme: Sulphohydrolase	BrainSpLMD|3423	OMIM|300823;HPO|3423|Abnormality of retinal pigmentation, Abnormality of the heart valves, Asthma, Cervical cord compression, Coarse facial features, Congestive heart failure, Delayed eruption of teeth, Dermatan sulfate excretion in urine, Diarrhea, Dysostosis multiplex, Flexion contracture, Hearing impairment, Heparan sulfate excretion in urine, Hepatomegaly, Hoarse voice, Hydrocephalus, Hypertrichosis, Inguinal hernia, Intellectual disability, profound, Intestinal pseudo-obstruction, Kyphosis, Macrocephaly, Macroglossia, Mild short stature, Neurodegeneration, Obstructive sleep apnea, Papilledema, Pes cavus, Ptosis, Recurrent otitis media, Scaphocephaly, Seizures, Severe short stature, Short neck, Short stature, Splenomegaly, Split hand, Thick lower lip vermilion, Tracheobronchomalacia, Umbilical hernia, Widely spaced teeth, X-linked recessive inheritance
EN-PFC1	CELF2.AS2	0.639429285	1.62E-06			
EN-PFC1	GABRA2	1.129578727	1.65E-06	Ion channel	BrainSpLMD|2555;Eurexp|euxassay_008366|mantle layer, marginal layer;BrainSpMouseDev|14171	OMIM|137140
EN-PFC1	INSR	0.252124247	1.69E-06	Receptor tyrosine kinase	BrainSpLMD|3643;Eurexp|euxassay_011041|adrenal gland;BrainSpMouseDev|16110	OMIM|147670;HPO|3643|Abdominal distention, Abnormal C-peptide level, Abnormal facial shape, Abnormality of the abdominal wall, Abnormality of the thyroid gland, Acanthosis nigricans, Accelerated skeletal maturation, Adipose tissue loss, Advanced eruption of teeth, Autosomal dominant inheritance, Autosomal recessive inheritance, Brachydactyly, Cachexia, Cholestasis, Clitoral hypertrophy, Coarse facial features, Coarse hair, Cognitive impairment, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Diabetes mellitus, Diabetic ketoacidosis, Dry skin, Elfin facies, Fasting hyperinsulinemia, Fasting hypoglycemia, Fatigue, Feeding difficulties in infancy, Female pseudohermaphroditism, Generalized hirsutism, Generalized hyperpigmentation, Gingival overgrowth, Global developmental delay, Growth hormone excess, Gynecomastia, Hearing abnormality, Hepatic fibrosis, Heterogeneous, High palate, High, narrow palate, Hyperglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hyperkeratosis, Hypermelanotic macule, Hypertelorism, Hypertrichosis, Hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Inguinal hernia, Insulin-resistant diabetes mellitus, Intrauterine growth retardation, Large hands, Lipoatrophy, Long foot, Long penis, Low-set ears, Low-set, posteriorly rotated ears, Macrotia, Mandibular prognathia, Nail dysplasia, Onychauxis, Ovarian cyst, Pancreatic islet-cell hyperplasia, Peripheral neuropathy, Postnatal growth retardation, Postprandial hyperglycemia, Precocious puberty, Prematurely aged appearance, Prominent nipples, Proptosis, Proteinuria, Recurrent hypoglycemia, Recurrent infections, Recurrent respiratory infections, Seizures, Severe failure to thrive, Short stature, Skeletal muscle atrophy, Small face, Small for gestational age, Subcutaneous nodule, Thick lower lip vermilion, Thick nail, Thick nasal alae, Thickened nuchal skin fold, Type II diabetes mellitus, Umbilical hernia, Wide mouth
EN-PFC1	DNM1	0.339844683	1.71E-06	GTPase	BrainSpLMD|1759	OMIM|602377;HPO|1759|Abnormality of brainstem morphology, Absent speech, Aggressive behavior, Atonic seizures, Atypical absence seizures, Autistic behavior, Autosomal dominant inheritance, Developmental regression, Difficulty walking, EEG with focal sharp slow waves, Encephalopathy, Epileptic encephalopathy, Falls, Generalized hypotonia, Generalized tonic seizures, Generalized tonic-clonic seizures, Hyperactivity, Inability to walk, Intellectual disability, Mental deterioration, Myoclonus, Personality disorder, Seizures
EN-PFC1	LPPR2	0.646936465	1.72E-06			
EN-PFC1	CEP63	0.370616306	1.80E-06	Unclassified	BrainSpLMD|80254;Eurexp|euxassay_012298|olfactory, vomeronasal organ	OMIM|614724;HPO|80254|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Delayed speech and language development, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
EN-PFC1	GAB2	0.72227693	1.82E-06	Adapter molecule	BrainSpLMD|9846	OMIM|606203
EN-PFC1	PPM1E	1.286460184	1.87E-06	Serine/threonine phosphatase	BrainSpLMD|22843	
EN-PFC1	PEX3	0.766132886	1.89E-06	Integral membrane protein	BrainSpLMD|8504	OMIM|603164;HPO|8504|Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the liver, Abnormality of the palate, Anteverted nares, Areflexia, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, Broad forehead, Cataract, Chorioretinal abnormality, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Death in infancy, Decreased fetal movement, Depressed nasal bridge, Developmental regression, Dolichocephaly, Downslanted palpebral fissures, EEG abnormality, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Generalized neonatal hypotonia, Global developmental delay, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypertelorism, Hypospadias, Inverted nipples, Jaundice, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Muscular hypotonia, Nephrocalcinosis, Neurogenic bladder, Nyctalopia, Nystagmus, Optic atrophy, Polymicrogyria, Posterior embryotoxon, Posteriorly rotated ears, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Prolonged neonatal jaundice, Prominent epicanthal folds, Prominent nose, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Respiratory insufficiency, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Skeletal dysplasia, Spastic paraplegia, Spasticity, Strabismus, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
EN-PFC1	PTPLB	0.619343287	1.89E-06			
EN-PFC1	CTA.360L10.1	0.49562463	1.96E-06			
EN-PFC1	KBTBD6	0.923648737	1.97E-06	Unclassified	BrainSpLMD|89890	OMIM|617738
EN-PFC1	AGPS	0.556926721	2.05E-06	Enzyme: Synthase	BrainSpLMD|8540;Eurexp|euxassay_012289|facial VII, glossopharyngeal IX, mantle layer, meninges, sublingual gland primordium, thymus primordium, trigeminal V	OMIM|603051;HPO|8540|Autosomal recessive inheritance, Epiphyseal stippling, Failure to thrive, Rhizomelia, Short femur, Short humerus
EN-PFC1	SSX2IP	0.810724818	2.07E-06	Adhesion molecule	BrainSpLMD|117178	OMIM|608690
EN-PFC1	ELOVL4	1.222153701	2.08E-06	Unclassified	BrainSpLMD|6785	OMIM|605512;HPO|6785|Abnormality of color vision, Abnormality of macular pigmentation, Abnormality of the choroid, Abnormality of the fovea, Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Central scotoma, Dry skin, Dysarthria, Dysdiadochokinesis, Gait disturbance, Hypohidrosis, Hyporeflexia, Macular degeneration, Macule, Nyctalopia, Nystagmus, Papule, Paroxysmal involuntary eye movements, Progressive cerebellar ataxia, Reduced visual acuity, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Retinal thinning, Urticaria, Yellow/white lesions of the macula
EN-PFC1	PIP4K2A	0.330883976	2.10E-06	Lipid Kinase	BrainSpLMD|5305;Eurexp|euxassay_018594|basal plate, dorsal root ganglion, foregut-midgut junction, head mesenchyme, hindgut, incisor, lobe, loop, lumen, mantle layer, medullary stroma, mesenchyme, midgut, olfactory, rectum, stomach, testis, thymus primordium, ventral grey horn, vertebral axis muscle system, vomeronasal organ	OMIM|603140
EN-PFC1	NFAT5	0.621003474	2.41E-06	Transcription factor	BrainSpLMD|10725;BrainSpMouseDev|33737	OMIM|604708
EN-PFC1	MAP2K4	0.469641414	2.45E-06	Dual specificity kinase	BrainSpLMD|6416;Eurexp|euxassay_018797|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|601335;COSMIC||pancreatic, breast, colorectal
EN-PFC1	LYPLAL1	0.416550084	2.48E-06	Unclassified	BrainSpLMD|127018	OMIM|616548
EN-PFC1	B3GALNT1	1.092619584	2.57E-06	Enzyme: Galactosyltransferase	BrainSpLMD|8706;Eurexp|euxassay_003465|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn	OMIM|603094
EN-PFC1	NBEAL1	0.527158108	2.58E-06	Unclassified	BrainSpLMD|65065	OMIM|609816
EN-PFC1	TCEAL4	0.278829816	2.63E-06	Unclassified	BrainSpLMD|79921	
EN-PFC1	RP4.769N13.6	0.4133735	2.64E-06			
EN-PFC1	ARHGEF11	0.453915417	2.75E-06	Guanine nucleotide exchange factor	BrainSpLMD|9826	OMIM|605708
EN-PFC1	LIN7C	0.273981591	2.76E-06	Unclassified	BrainSpLMD|55327	OMIM|612332
EN-PFC1	RP11.676M6.1	0.473735456	2.82E-06			
EN-PFC1	SYCP2	0.342982535	2.87E-06	DNA binding protein	BrainSpLMD|10388	OMIM|604105
EN-PFC1	ALG6	0.837199684	3.02E-06	Enzyme: Glycosyltransferase	BrainSpLMD|29929	SFARI||Autism, No category;OMIM|604566;HPO|29929|Areflexia, Ataxia, Autosomal recessive inheritance, Elevated serum transaminases during infections, Global developmental delay, Hepatic failure, Muscular hypotonia, Muscular hypotonia of the trunk, Reduced antithrombin III activity, Reduced factor XI activity, Seizures, Strabismus, Type I transferrin isoform profile
EN-PFC1	CNKSR2	0.942686634	3.12E-06	Unclassified	BrainSpLMD|22866	SFARI||Autism, 3 - Suggestive evidence;OMIM|300724;HPO|22866|Intellectual disability
EN-PFC1	MIEN1	0.855116723	3.16E-06	Unclassified	BrainSpLMD|84299;Eurexp|euxassay_001703|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|611802
EN-PFC1	LINC00643	0.639370731	3.28E-06			
EN-PFC1	ABLIM1	0.354666601	3.32E-06	Cytoskeletal associated protein	BrainSpLMD|3983	OMIM|602330
EN-PFC1	ZMYM4.AS1	0.287781138	3.50E-06			
EN-PFC1	ANKRD46	0.734365314	3.62E-06	Integral membrane protein	BrainSpLMD|157567;Eurexp|euxassay_007253|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	
EN-PFC1	MADD	0.761834498	3.69E-06	Adapter molecule	BrainSpLMD|8567;Eurexp|euxassay_012746|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|603584
EN-PFC1	KB.1460A1.5	0.926840035	3.70E-06			
EN-PFC1	SS18L2	0.427521222	3.76E-06	Unclassified	BrainSpLMD|51188;Eurexp|euxassay_007845|Meckel's cartilage, basioccipital bone, clavicle, cricoid, fibula, metatarsus, nasal septum, orbito-sphenoid, otic capsule, rib, submandibular gland primordium, temporal bone, thyroid, tibia, turbinate	OMIM|606473
EN-PFC1	ZNF780B	0.435280621	3.78E-06	Unclassified		
EN-PFC1	SEC11C	0.502340473	3.81E-06	Aminopeptidase	BrainSpLMD|90701;Eurexp|euxassay_003588|clavicle, olfactory, orbito-sphenoid, submandibular gland primordium, thymus primordium, trachea	
EN-PFC1	INTS10	0.594138985	3.88E-06	Unclassified	BrainSpLMD|55174;Eurexp|euxassay_001760|mantle layer, marginal layer	OMIM|611353
EN-PFC1	SRRM1	0.36315599	4.07E-06	Ribonuclease	BrainSpLMD|10250	OMIM|605975
EN-PFC1	SLC22A17	0.264819286	4.09E-06	Transport/cargo protein	BrainSpLMD|51310	OMIM|611461
EN-PFC1	ZDHHC2	0.31750191	4.25E-06	Integral membrane protein	BrainSpLMD|51201;Eurexp|euxassay_000126|abducent VI, accessory XI, autonomic, basal plate, cervico-thoracic, corpus striatum, cranial, diencephalon, dorsal root ganglion, facial VII, gland, glossopharyngeal IX, hypoglossal XII, hypothalamus, inferior, lamina terminalis, lateral wall, mandibular division, mantle layer, maxillary division, nerve plexus, oculomotor III, olfactory I, olfactory cortex, olfactory lobe, ophthalmic division, optic II, parasympathetic, spinal cord, sulcus limitans, sympathetic, tegmentum, thalamus, thoracic, trigeminal V, trochlear IV, vagus X, vestibulocochlear VIII;BrainSpMouseDev|46387	
EN-PFC1	PSMB5	0.289644591	4.71E-06	Ubiquitin proteasome system protein	BrainSpLMD|5693;Eurexp|euxassay_005692|embryo	OMIM|600306
EN-PFC1	BCAT1	0.873903306	4.78E-06	Enzyme: Aminotransferase	BrainSpLMD|586;Eurexp|euxassay_010499|brain, clavicle, facial VII, incisor, mandible, nasal septum, neural retina, orbito-sphenoid, rib, spinal cord, tongue, trigeminal V, turbinate bones;BrainSpMouseDev|11821	OMIM|113520
EN-PFC1	AGPAT1	0.752614099	4.78E-06	Enzyme: Acyltransferase	BrainSpLMD|10554	OMIM|603099
EN-PFC1	CHGB	0.493248932	4.80E-06	Secreted polypeptide	BrainSpLMD|1114;Eurexp|euxassay_007010|brain, cervical, cervico-thoracic, facial VII, glossopharyngeal IX, medulla, midgut, neural retina, pancreas, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|118920
EN-PFC1	FANCL	0.479119508	4.92E-06	Enzyme: Ligase	BrainSpLMD|55120;Eurexp|euxassay_006857|ventricular layer	OMIM|608111;HPO|55120|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Cafe-au-lait spot, Chromosome breakage, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Phenotypic variability, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
EN-PFC1	MRPS23	0.379242065	4.95E-06	Ribosomal subunit	BrainSpLMD|51649;Eurexp|euxassay_008238|alar plate, basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa	OMIM|611985
EN-PFC1	MBOAT2	0.670825376	5.14E-06	Unclassified	BrainSpLMD|129642	OMIM|611949
EN-PFC1	CHMP5	0.315727013	5.16E-06	Transport/cargo protein	BrainSpLMD|51510	OMIM|610900
EN-PFC1	ZMAT2	0.310184288	5.18E-06	RNA binding protein	BrainSpLMD|153527	
EN-PFC1	ANAPC15	0.566886597	5.27E-06	Unclassified	BrainSpLMD|25906	OMIM|614717
EN-PFC1	AGL	0.662998238	5.48E-06	Enzyme: Glucosidase	BrainSpLMD|178;Eurexp|euxassay_013482|dorsal root ganglion, facial VII, glossopharyngeal IX, skeletal muscle, trigeminal V, ventral grey horn, vertebral axis muscle system	OMIM|610860;HPO|178|Autosomal recessive inheritance, Broad nasal tip, Cardiomyopathy, Deeply set eye, Depressed nasal bridge, Distal amyotrophy, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Full cheeks, Hepatic fibrosis, Hepatomegaly, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Immunodeficiency, Intellectual disability, mild, Malar flattening, Midface retrusion, Muscle weakness, Myopathy, Short stature, Thin upper lip vermilion, Ventricular hypertrophy
EN-PFC1	LGALSL	0.372088862	5.74E-06		BrainSpLMD|29094;Eurexp|euxassay_002315|dorsal root ganglion, pectoral girdle and thoracic body wall, rib, submandibular gland primordium	
EN-PFC1	RP11.397O4.1	0.292824882	5.75E-06			
EN-PFC1	PABPC1	0.29123285	5.79E-06	RNA binding protein	Eurexp|euxassay_005676|embryo	OMIM|604679;COSMIC||HNSCC, biliary tract carcinoma
EN-PFC1	CMB9.22P13.1	0.972718637	6.05E-06			
EN-PFC1	ZNF667.AS1	0.82331961	6.10E-06			
EN-PFC1	SYBU	0.411043438	6.30E-06		BrainSpLMD|55638;Eurexp|euxassay_006982|corpus striatum, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mandible, mantle layer, marginal layer, maxilla, midbrain, nasal cavity, olfactory cortex, pancreas, retina, spinal cord, stomach, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611568
EN-PFC1	YWHAQ	0.390305162	6.35E-06	Adapter molecule	BrainSpLMD|10971	OMIM|609009
EN-PFC1	PICALM	0.263376562	6.41E-06	Transport/cargo protein	BrainSpLMD|8301	OMIM|603025;COSMIC||T-ALL, AML
EN-PFC1	GRB2	0.264462733	6.58E-06	Adapter molecule	BrainSpLMD|2885	OMIM|108355
EN-PFC1	CAMK2D	0.657825985	6.64E-06	Serine/threonine kinase	BrainSpLMD|817;Eurexp|euxassay_010500|facial VII, glossopharyngeal IX, mantle layer, mesenchyme, olfactory, trigeminal V, vagus X, ventricle, ventricular layer	OMIM|607708
EN-PFC1	WDR17	1.381466072	6.65E-06	Unclassified	BrainSpLMD|116966;Eurexp|euxassay_005530|brain, olfactory, spinal cord	OMIM|609005
EN-PFC1	SLC6A15	0.640588722	6.94E-06	Membrane transport protein	BrainSpLMD|55117;Eurexp|euxassay_012147|choroid invagination, choroid plexus, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, midgut, olfactory, roof plate, stomach, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|607971
EN-PFC1	SLC16A1.AS1	0.704199796	6.96E-06			
EN-PFC1	BAG4	0.331630688	6.96E-06	Adapter molecule	BrainSpLMD|9530;Eurexp|euxassay_008224|naris, oesophagus, olfactory, pituitary, tongue, urethra, ventricle	OMIM|603884
EN-PFC1	SYT16	0.98854317	7.01E-06	Membrane transport protein	BrainSpLMD|83851;Eurexp|euxassay_009743|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	OMIM|610950
EN-PFC1	EPRS	0.510179492	7.08E-06	Enzyme: Ligase	BrainSpLMD|2058;Eurexp|euxassay_008064|mandible, maxilla, orbito-sphenoid, rib	OMIM|138295
EN-PFC1	CLOCK	0.571627868	7.45E-06	Transcription factor	BrainSpLMD|9575;BrainSpMouseDev|12537	OMIM|601851
EN-PFC1	RP11.181B18.1	0.561635382	7.93E-06			
EN-PFC1	ZPR1	0.355093193	8.06E-06	Adapter molecule	BrainSpLMD|8882;Eurexp|euxassay_009271|embryo	OMIM|603901
EN-PFC1	ANKRD28	0.332199404	8.23E-06	Unclassified	BrainSpLMD|23243	OMIM|611122
EN-PFC1	PIK3CB	0.836200715	8.63E-06	Lipid Kinase	BrainSpLMD|5291;BrainSpMouseDev|50610	OMIM|602925;COSMIC||SCC, NSCLC
EN-PFC1	PELI1	0.779958203	8.69E-06	Adapter molecule	BrainSpLMD|57162;Eurexp|euxassay_011663|cortex, forebrain, hindbrain, incisor, lung, marginal layer, midbrain, molar, neural retina, olfactory, spinal cord, submandibular gland primordium, thymus primordium, vibrissa, vomeronasal organ	OMIM|614797
EN-PFC1	SNX14	0.676548403	8.74E-06	Transport/cargo protein	BrainSpLMD|57231	SFARI||Autism, No category;OMIM|616105;HPO|57231|Anteverted nares, Apraxia, Ataxia, Autistic behavior, Autosomal recessive inheritance, Babinski sign, Brachydactyly, Broad face, Broad philtrum, Camptodactyly, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral cortical atrophy, Clinodactyly, Coarse facial features, Delayed eruption of teeth, Dental crowding, Epicanthus, Generalized hypotonia, Global developmental delay, High palate, Hyporeflexia, Inability to walk, Infantile onset, Long philtrum, Prominent forehead, Relative macrocephaly, Short palpebral fissure, Spasticity, Talipes equinovarus, Thick vermilion border, Wide nasal base
EN-PFC1	HLTF	0.254585798	8.90E-06	DNA binding protein	BrainSpLMD|6596	OMIM|603257
EN-PFC1	HERC3	0.485703928	8.90E-06	Ubiquitin proteasome system protein	BrainSpLMD|8916;Eurexp|euxassay_007296|Meckel's cartilage, brain, dorsal root ganglion, left lung, mesenchyme, oesophagus, otic capsule, pharyngo-tympanic tube, pituitary, right lung, spinal cord	OMIM|605200
EN-PFC1	HERC2	0.647812714	9.28E-06	Ubiquitin proteasome system protein	BrainSpLMD|8924;Eurexp|euxassay_014975|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|605837;HPO|8924|Abdominal obesity, Aggressive behavior, Almond-shaped palpebral fissure, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Blue irides, Clinodactyly, Clitoral hypoplasia, Cutaneous photosensitivity, Decreased fetal movement, Decreased muscle mass, Delayed puberty, Delayed speech and language development, Dolichocephaly, Downturned corners of mouth, Failure to thrive in infancy, Generalized hypopigmentation, Generalized hypotonia, Global developmental delay, Growth hormone deficiency, Hyperactivity, Hyperinsulinemia, Hypermetropia, Hypogonadotrophic hypogonadism, Hypoplastic labia minora, Hypoventilation, Impaired pain sensation, Infantile onset, Infertility, Intellectual disability, Kyphosis, Mandibular prognathia, Micropenis, Motor delay, Narrow forehead, Narrow nasal bridge, Narrow palate, Narrow palm, Nasal speech, Obesity, Oligomenorrhea, Plagiocephaly, Polyphagia, Poor gross motor coordination, Poor suck, Recurrent respiratory infections, Sandal gap, Scoliosis, Self-mutilation, Short foot, Short palm, Short stature, Sleep apnea, Small hand, Specific learning disability, Sporadic, Strabismus, Thin upper lip vermilion, Unsteady gait, Ventriculomegaly
EN-PFC1	DROSHA	0.561721078	9.41E-06	Ribonuclease	BrainSpLMD|29102;Eurexp|euxassay_018939|incisor, lung, metanephros, molar, submandibular gland primordium, vibrissa	OMIM|608828;COSMIC||Wilms tumour, NSCLC, bladder carcinoma
EN-PFC1	TANK	0.603339764	9.45E-06	Adapter molecule	BrainSpLMD|10010;Eurexp|euxassay_010622|mandible, maxilla, submandibular gland primordium	OMIM|603893
EN-PFC1	GATAD2B	0.332729832	1.01E-05	Transcription regulatory protein	BrainSpLMD|57459	OMIM|614998;HPO|57459|Autosomal dominant inheritance, Blepharophimosis, Broad forehead, Deeply set eye, Hypermetropia, Hypertelorism, Inappropriate laughter, Infantile onset, Long fingers, Long toe, Neonatal hypotonia, Poor speech, Thin upper lip vermilion, Wide mouth, Wide nasal bridge
EN-PFC1	UBE2V2	0.651857196	1.02E-05	Ubiquitin proteasome system protein	BrainSpLMD|7336;Eurexp|euxassay_007283|embryo	OMIM|603001
EN-PFC1	EEF1B2	0.342004592	1.07E-05	Translation regulatory protein	BrainSpLMD|1933	OMIM|600655
EN-PFC1	C12orf76	0.975461812	1.09E-05	Unclassified	BrainSpLMD|400073	
EN-PFC1	PIANP	0.777444692	1.09E-05	Unclassified	BrainSpLMD|196500	OMIM|616065
EN-PFC1	GFOD2	0.335382001	1.10E-05	Unclassified	BrainSpLMD|81577;Eurexp|euxassay_004913|diaphragm, tongue, vertebral axis muscle system	
EN-PFC1	ASIC1	0.717592855	1.11E-05	Ion channel	BrainSpLMD|41;BrainSpMouseDev|11208	OMIM|602866
EN-PFC1	CPEB2	1.355745	1.12E-05	RNA binding protein	BrainSpLMD|132864	OMIM|610605
EN-PFC1	HACE1	0.704217089	1.16E-05	Ubiquitin proteasome system protein	BrainSpLMD|57531	OMIM|610876;HPO|57531|Ataxia, Autosomal recessive inheritance, Broad-based gait, Cerebral atrophy, Developmental regression, Elevated urinary catecholamines, Generalized hypotonia, Global developmental delay, Intellectual disability, Lumbar hyperlordosis, Muscular hypotonia, Neoplasm of the nervous system, Retinal dystrophy, Strabismus
EN-PFC1	PAPD5	0.613630046	1.16E-05	Unclassified	BrainSpLMD|64282	OMIM|605540
EN-PFC1	AASDHPPT	0.334215101	1.16E-05	Enzyme: Dehydrogenase	BrainSpLMD|60496	OMIM|607756
EN-PFC1	RNF220	0.921175995	1.16E-05	Unclassified	BrainSpLMD|55182;Eurexp|euxassay_007486|mantle layer, marginal layer	OMIM|616136
EN-PFC1	PELI2	0.648179314	1.17E-05	Unclassified	BrainSpLMD|57161;Eurexp|euxassay_014344|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|614798
EN-PFC1	ST7.AS2	0.511930943	1.27E-05			
EN-PFC1	GSTM3	0.505137886	1.34E-05	Enzyme: Glutathione transferase	BrainSpLMD|2947;Eurexp|euxassay_018935|atrio-ventricular canal, axial muscle, basioccipital bone, basisphenoid bone, brain, central nervous system, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, labyrinth, lens, liver, mantle layer, nasal septum, neural retina, nucleus pulposus, olfactory, orbito-sphenoid, otic capsule, renal/urinary system, sphenoid, spinal cord, testis, trigeminal V, turbinate bones, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|138390
EN-PFC1	ANKMY2	0.384129254	1.35E-05	Unclassified	BrainSpLMD|57037;Eurexp|euxassay_006735|brain, dorsal root ganglion, spinal cord, trigeminal V	
EN-PFC1	ADAM19	0.275482564	1.56E-05	Metallo protease	BrainSpLMD|8728;Eurexp|euxassay_002478|bladder, mantle layer;BrainSpMouseDev|11280	OMIM|603640
EN-PFC1	PITHD1	0.407502434	1.69E-05	Unclassified	BrainSpLMD|57095;Eurexp|euxassay_005109|adenohypophysis, brain, cervical, cervico-thoracic, cranial muscle, dorsal root ganglion, glossopharyngeal IX, incisor, liver, lung, metanephros, molar, naris, olfactory, orbito-sphenoid, rectum, respiratory, respiratory tract, spinal cord, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vestibulocochlear VIII, vibrissa	
EN-PFC1	NYAP2	1.492334265	1.73E-05	Unclassified		OMIM|615478
EN-PFC1	HERC2P2	0.473353253	1.73E-05	-		
EN-PFC1	JAKMIP2	0.542485652	1.75E-05	Unclassified	BrainSpLMD|9832	OMIM|611197
EN-PFC1	CCDC144B	1.010087998	1.80E-05	Unclassified		
EN-PFC1	LDB2	0.484186663	1.93E-05	Transcription regulatory protein	BrainSpLMD|9079;BrainSpMouseDev|16597	OMIM|603450
EN-PFC1	TMEM14A	0.524033741	1.94E-05	Integral membrane protein	BrainSpLMD|28978	OMIM|616870
EN-PFC1	CACNA1C	0.905904164	2.01E-05	Voltage gated channel	BrainSpLMD|775	SFARI||Autism, No category;OMIM|114205;HPO|775|Atrial fibrillation, Autosomal dominant inheritance, Cutaneous syndactyly, Depressed nasal bridge, Global developmental delay, J wave, Microdontia, Prolonged QT interval, Recurrent infections, Round face, Shortened QT interval, Sudden cardiac death, Sudden death, Syncope, Thin upper lip vermilion, Ventricular arrhythmia
EN-PFC1	MAPK6	0.471689372	2.01E-05	Serine/threonine kinase	BrainSpLMD|5597	OMIM|602904
EN-PFC1	IPO7	0.547305874	2.05E-05	Transport/cargo protein	BrainSpLMD|10527	OMIM|605586
EN-PFC1	C4orf3	0.440495253	2.06E-05	Integral membrane protein	BrainSpLMD|401152	
EN-PFC1	TMEM59	0.402047298	2.09E-05	Unclassified	BrainSpLMD|9528;Eurexp|euxassay_008205|alveolar sulcus, axial skeleton, basal columns, clavicle, femur, floor plate, floorplate, mandible, mantle layer, maxilla, olfactory, orbito-sphenoid, pituitary, rib, stomach	OMIM|617084
EN-PFC1	DOCK3	0.990335749	2.19E-05	Unclassified	BrainSpLMD|1795	OMIM|603123
EN-PFC1	ZNF506	0.466189709	2.21E-05	Transcription factor	BrainSpLMD|440515	
EN-PFC1	ZNF626	0.580759024	2.28E-05	DNA binding protein		SFARI||Autism, 4 - Minimal evidence
EN-PFC1	RBFOX3	0.417183221	2.39E-05			OMIM|616999
EN-PFC1	UBR2	0.412685252	2.46E-05	Ubiquitin proteasome system protein	BrainSpLMD|23304	OMIM|609134
EN-PFC1	RAPGEF2	0.352729792	2.55E-05	Guanine nucleotide exchange factor	BrainSpLMD|9693;Eurexp|euxassay_014449|olfactory	OMIM|609530
EN-PFC1	MED28	0.291923989	2.62E-05	Transcription regulatory protein	BrainSpLMD|80306	OMIM|610311
EN-PFC1	CLUAP1	0.269878752	2.65E-05	Unclassified	BrainSpLMD|23059;Eurexp|euxassay_012421|facial VII, olfactory, thymus primordium, trigeminal V	OMIM|616787
EN-PFC1	PDE4B	0.424341607	2.77E-05	Enzyme: Phosphodiesterase	BrainSpLMD|5142;Eurexp|euxassay_018064|cochlea, mantle layer, utricle	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600127
EN-PFC1	NCOA4	0.767716287	2.91E-05	Transcription regulatory protein	BrainSpLMD|8031	OMIM|601984;COSMIC||papillary thyroid;HPO|8031|Autosomal dominant inheritance, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma
EN-PFC1	KRAS	0.36263262	3.00E-05	GTPase	BrainSpLMD|3845	OMIM|190070;COSMIC||pancreatic, colorectal, lung, thyroid, AML, other tumour types;HPO|3845|Abdominal pain, Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of cardiovascular system morphology, Abnormality of coagulation, Abnormality of dental color, Abnormality of dental morphology, Abnormality of finger, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Abnormality of the spleen, Abnormality of the ulna, Abnormality of the ureter, Abnormality of toe, Abnormality of vision, Absent eyebrow, Absent septum pellucidum, Acute myeloid leukemia, Adenoma sebaceum, Aganglionic megacolon, Agenesis of corpus callosum, Alopecia, Alveolar cell carcinoma, Anteverted nares, Anxiety, Aphasia, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the skin, Arrhythmia, Asymmetric growth, Atrial septal defect, Atrial septal dilatation, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Basal cell carcinoma, Biparietal narrowing, Blepharophimosis, Bone cyst, Brachydactyly, Breast carcinoma, Brittle hair, Broad forehead, Capillary hemangiomas, Cavernous hemangioma, Cerebral calcification, Cerebral cortical atrophy, Chronic atrophic gastritis, Coarctation of aorta, Coarse facial features, Coarse hair, Coloboma, Colon cancer, Constipation, Corneal opacity, Cranial asymmetry, Craniofacial hyperostosis, Cryptorchidism, Curly hair, Cystic hygroma, Death in early adulthood, Death in infancy, Deep palmar crease, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Downslanted palpebral fissures, Dry skin, Dysarthria, Dysphasia, Dystrophic fingernails, EEG abnormality, Echolalia, Enlarged thorax, Epibulbar dermoid, Epicanthus, Excessive wrinkled skin, Facial asymmetry, Failure to thrive, Failure to thrive in infancy, Fatigue, Feeding difficulties, Feeding difficulties in infancy, Fine hair, Frontal bossing, Full cheeks, Gastrointestinal hemorrhage, Generalized hyperpigmentation, Genu recurvatum, Glioblastoma, Global developmental delay, Growth delay, Hearing impairment, Hemangioma, Hemimegalencephaly, Hepatomegaly, Heterogeneous, High forehead, High palate, Horseshoe kidney, Hyperextensible skin, Hyperreflexia, Hypertelorism, Hypertonia, Hypogonadotrophic hypogonadism, Hypophosphatemic rickets, Hypopigmentation of the skin, Hypoplasia of the zygomatic bone, Ichthyosis, Increased intracranial pressure, Intellectual disability, Iris coloboma, Irregular hyperpigmentation, Irritability, Joint hyperflexibility, Juvenile myelomonocytic leukemia, Kyphoscoliosis, Laryngeal hypoplasia, Lipodystrophy, Long face, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Malabsorption, Melanocytic nevus, Micrognathia, Microphthalmia, Midface retrusion, Migraine, Mitral valve prolapse, Multiple cafe-au-lait spots, Multiple lentigines, Multiple lipomas, Muscle stiffness, Muscle weakness, Muscular hypotonia, Mutism, Myopia, Nausea and vomiting, Neoplasm of the pancreas, Neoplasm of the rectum, Neoplasm of the skeletal system, Nevus flammeus, Nevus sebaceous, Nystagmus, Osteolysis, Osteopenia, Overgrowth, Palmoplantar keratoderma, Pectus carinatum, Pectus excavatum, Peripheral axonal neuropathy, Plagiocephaly, Polyhydramnios, Porencephalic cyst, Posteriorly rotated ears, Premature birth, Prominent occiput, Proptosis, Ptosis, Pulmonary arterial hypertension, Pulmonary artery stenosis, Pulmonic stenosis, Recurrent fractures, Reduced tendon reflexes, Retinopathy, Rigidity, Sagittal craniosynostosis, Scoliosis, Seizures, Short neck, Short nose, Short palm, Short palpebral fissure, Short stature, Slow-growing hair, Somatic mosaicism, Somatic mutation, Sparse hair, Sparse or absent eyelashes, Spasticity, Sporadic, Stomach cancer, Strabismus, Subcortical cerebral atrophy, Subcutaneous nodule, Telecanthus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Transitional cell carcinoma of the bladder, Triangular face, Tricuspid valve prolapse, Underdeveloped supraorbital ridges, Ventricular septal defect, Ventriculomegaly, Vertebral segmentation defect, Visceral angiomatosis, Webbed neck, Weight loss, Wide intermamillary distance, Xanthomatosis
EN-PFC1	LYRM7	0.650774179	3.03E-05	Unclassified	BrainSpLMD|90624	OMIM|615831;HPO|90624|Abnormality of the periventricular white matter, Anemia, Ataxia, Autosomal recessive inheritance, Brisk reflexes, Cerebral atrophy, Developmental regression, Dysarthria, Exotropia, External ophthalmoplegia, Failure to thrive, Gait disturbance, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Increased serum lactate, Intellectual disability, Lactic acidosis, Lethargy, Muscle weakness, Nystagmus, Optic disc pallor, Progressive, Rapidly progressive, Respiratory failure, Spastic tetraparesis
EN-PFC1	STXBP5	0.748549367	3.14E-05	Transport/cargo protein	BrainSpLMD|134957	SFARI||Autism, 3 - Suggestive evidence;OMIM|604586
EN-PFC1	CAPRIN1	0.74257805	3.34E-05	Integral membrane protein	BrainSpLMD|4076	SFARI||Autism, 3 - Suggestive evidence;OMIM|601178
EN-PFC1	RP1.228H13.5	0.68528781	3.36E-05			
EN-PFC1	TSPAN3	0.605622408	3.48E-05	Integral membrane protein	BrainSpLMD|10099;Eurexp|euxassay_011791|axial skeleton, basioccipital bone, basisphenoid bone, naris, nasal septum, orbito-sphenoid, otic capsule, petrous part, rib, turbinate bones	OMIM|613134
EN-PFC1	IFT88	0.405955073	3.49E-05	Cell cycle control protein	BrainSpLMD|8100	OMIM|600595
EN-PFC1	RP11.380L11.4	0.286211441	3.56E-05			
EN-PFC1	MAP3K9	0.345682388	3.58E-05	Serine/threonine kinase	BrainSpLMD|4293	OMIM|600136
EN-PFC1	PCNXL2	0.565657214	3.61E-05			
EN-PFC1	ACYP1	0.329906236	3.61E-05	Enzyme: Phosphatase	BrainSpLMD|97	OMIM|600875
EN-PFC1	UBA6.AS1	0.494163592	3.63E-05			
EN-PFC1	DZANK1	0.333687123	3.64E-05	Unclassified	BrainSpLMD|55184	
EN-PFC1	MYSM1	0.482681321	3.66E-05	DNA binding protein	BrainSpLMD|114803	OMIM|612176
EN-PFC1	ASAH1	0.605433959	3.70E-05	Enzyme: Hydrolase	BrainSpLMD|427;Eurexp|euxassay_004481|lung	OMIM|613468;HPO|427|Areflexia, Arthralgia, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Cherry red spot of the macula, Decreased muscle mass, Degeneration of anterior horn cells, Dementia, Difficulty walking, EEG abnormality, EMG abnormality, Facial palsy, Failure to thrive, Frequent falls, Gait disturbance, Generalized myoclonic seizures, Gowers sign, Hepatomegaly, Hoarse cry, Intellectual disability, Irritability, Joint stiffness, Joint swelling, Juvenile onset, Kyphosis, Laryngomalacia, Lipogranulomatosis, Motor delay, Myoclonus, Neurological speech impairment, Nystagmus, Oral-pharyngeal dysphagia, Osteoporosis, Periarticular subcutaneous nodules, Progressive, Progressive distal muscular atrophy, Recurrent respiratory infections, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scoliosis, Short stature, Spinal muscular atrophy, Splenomegaly, Tongue fasciculations, Tremor, Variable expressivity
EN-PFC1	POU2F2	0.933108214	3.75E-05	Transcription factor	BrainSpLMD|5452;Eurexp|euxassay_019622|mantle layer;BrainSpMouseDev|18750	OMIM|164176
EN-PFC1	DOPEY1	0.513084333	3.80E-05	Unclassified	BrainSpLMD|23033	OMIM|616823
EN-PFC1	DZIP3	0.327360442	3.81E-05	Ubiquitin proteasome system protein	BrainSpLMD|9666	OMIM|608672
EN-PFC1	RBM4	0.378912382	3.83E-05	RNA binding protein	BrainSpLMD|5936	OMIM|602571
EN-PFC1	TMSB4XP4	0.816069874	3.90E-05	-		
EN-PFC1	ASB8	0.483268119	4.06E-05	Unclassified	BrainSpLMD|140461	OMIM|615053
EN-PFC1	HECW2	0.828144959	4.11E-05	Ubiquitin proteasome system protein		SFARI||Autism, 3 - Suggestive evidence;OMIM|617245;HPO|57520|Abnormal facial shape, Autosomal dominant inheritance, Bulbous nose, Cerebral atrophy, Depressed nasal bridge, EEG abnormality, Epicanthus, Intellectual disability, Macrotia, Midface retrusion, Nasogastric tube feeding, Nystagmus, Recurrent hand flapping, Seizures, Self-injurious behavior, Sparse eyebrow, Telecanthus, Thick eyebrow, Thick lower lip vermilion, Wide mouth
EN-PFC1	LINC00342	0.392977006	4.14E-05			
EN-PFC1	GTF2H2B	0.53490019	4.14E-05	Transcription factor		
EN-PFC1	WDR13	0.556623069	4.24E-05	Transcription regulatory protein	BrainSpLMD|64743	OMIM|300512
EN-PFC1	PCDH19	0.452760511	4.28E-05	Adhesion molecule	BrainSpMouseDev|93556	SFARI||Autism, No category;OMIM|300460;HPO|57526|Absence seizures, Aggressive behavior, Ataxia, Atonic seizures, Cutaneous photosensitivity, EEG abnormality, Febrile seizures, Focal clonic seizures, Focal seizures, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Infantile onset, Intellectual disability, Muscular hypotonia, Neurodevelopmental delay, Obtundation status, Pschomotor retardation, Psychosis, Status epilepticus, Tremor, X-linked inheritance
EN-PFC1	LINS	0.66689455	4.29E-05			
EN-PFC1	PAK1	0.541002207	4.30E-05	Serine/threonine kinase	BrainSpLMD|5058;Eurexp|euxassay_018852|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, incisor, mandible, maxilla, midbrain, molar, neural retina, spinal cord, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|18245	OMIM|602590
EN-PFC1	DYNC2LI1	0.464942881	4.32E-05	Motor protein	BrainSpLMD|51626	OMIM|617083;HPO|51626|Abnormality of oral frenula, Abnormality of oral mucosa, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the fingernails, Abnormality of the heart valves, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Aplasia/Hypoplasia of the lungs, Atrial septal defect, Atrioventricular canal defect, Autosomal recessive inheritance, Brachydactyly, Capitate-hamate fusion, Cone-shaped epiphysis, Conical incisor, Cryptorchidism, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Epispadias, Failure to thrive, Foot polydactyly, Genu valgum, Hand polydactyly, Hepatomegaly, Horizontal ribs, Hypodontia, Hypoplastic toenails, Hypospadias, Intrauterine growth retardation, Low-set ears, Microdontia, Micromelia, Nail dysplasia, Narrow chest, Neonatal short-limb short stature, Polyhydramnios, Postaxial hand polydactyly, Respiratory insufficiency, Short distal phalanx of finger, Short foot, Short ribs, Short stature, Short thorax, Situs inversus totalis, Skeletal dysplasia, Splenomegaly, Strabismus, Ventricular septal defect
EN-PFC1	RP11.53O19.3	0.804199324	4.33E-05			
EN-PFC1	SLC5A3	0.713732124	4.36E-05	Transport/cargo protein	BrainSpLMD|6526;Eurexp|euxassay_019742|axial muscle, cervical region, choroid plexus, extrinsic ocular muscle, nasal septum, pelvic girdle, rectum, turbinate bones, ventricular layer	OMIM|600444
EN-PFC1	KBTBD7	0.484356136	4.41E-05	Unclassified	BrainSpLMD|84078	OMIM|617739
EN-PFC1	AL133243.1	0.445116356	4.46E-05			
EN-PFC1	GOT2	0.252248636	4.47E-05	Enzyme: Aminotransferase	BrainSpLMD|2806	OMIM|138150
EN-PFC1	EPN2	0.404139699	4.48E-05	Unclassified;Adapter molecule	BrainSpLMD|22905	OMIM|607263
EN-PFC1	STX12	0.646761073	4.56E-05	Membrane transport protein	BrainSpLMD|23673;Eurexp|euxassay_011670|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606892
EN-PFC1	ORC4	0.31104897	4.56E-05	DNA binding protein	BrainSpLMD|5000	OMIM|603056;HPO|5000|Abnormality of epiphysis morphology, Abnormality of the ribs, Anotia, Aplastic clavicles, Atresia of the external auditory canal, Autosomal recessive inheritance, Birth length less than 3rd percentile, Breast hypoplasia, Bronchomalacia, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Craniosynostosis, Cryptorchidism, Delayed skeletal maturation, Dolichocephaly, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, High pitched voice, High, narrow palate, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Microtia, Microtia, third degree, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Respiratory distress, Respiratory failure, Retrognathia, Severe short stature, Slender long bone, Smooth philtrum, Tracheomalacia, Underdeveloped nasal alae
EN-PFC1	CCP110	0.365033348	4.57E-05		BrainSpLMD|9738;Eurexp|euxassay_005409|olfactory	OMIM|609544
EN-PFC1	TTC33	0.704872538	4.57E-05	Unclassified	BrainSpLMD|23548;Eurexp|euxassay_001924|brain, dorsal root ganglion, glossopharyngeal IX, olfactory, spinal cord, trigeminal V	
EN-PFC1	GNAZ	0.448295944	4.58E-05	G protein	BrainSpLMD|2781;Eurexp|euxassay_001214|dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|139160
EN-PFC1	ACTR2	0.348042913	4.79E-05	Cytoskeletal protein	BrainSpLMD|10097	OMIM|604221
EN-PFC1	7-Mar	0.473507105	4.84E-05			
EN-PFC1	RNU6.1188P	0.715003154	4.85E-05			
EN-PFC1	WARS	0.375522416	4.86E-05	Enzyme: Ligase	BrainSpLMD|7453	OMIM|191050
EN-PFC1	KIAA1109	0.351151222	4.88E-05	Unclassified	BrainSpLMD|84162	OMIM|611565
EN-PFC1	STAG3L3	0.51040637	4.97E-05	Unclassified		
EN-PFC1	TUSC3	0.740514142	5.13E-05	Integral membrane protein	BrainSpLMD|7991;Eurexp|euxassay_012104|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, peripheral nervous system, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|601385;HPO|7991|Autosomal recessive inheritance, Intellectual disability
EN-PFC1	UBL3	0.856120887	5.14E-05	Ubiquitin proteasome system protein	BrainSpLMD|5412	OMIM|604711
EN-PFC1	SCAI	0.558238546	5.19E-05	Unclassified	BrainSpLMD|286205;Eurexp|euxassay_018813|olfactory	
EN-PFC1	MEMO1	0.427446391	5.19E-05	Unclassified	BrainSpLMD|51072	OMIM|611786
EN-PFC1	ADCY2	1.014530938	5.20E-05	Adenylate cyclase	BrainSpLMD|108;BrainSpMouseDev|84170	OMIM|103071
EN-PFC1	MEAF6	0.431618961	5.24E-05	Unclassified	BrainSpLMD|64769	OMIM|611001
EN-PFC1	CREG1	0.511778041	5.24E-05	Secreted polypeptide	BrainSpLMD|8804;Eurexp|euxassay_003469|liver	
EN-PFC1	VMP1	0.419698101	5.39E-05	Integral membrane protein	BrainSpLMD|81671	OMIM|611753
EN-PFC1	SPCS1	0.333188918	5.56E-05	Unclassified	BrainSpLMD|28972;Eurexp|euxassay_008166|mandible, maxilla	OMIM|610358
EN-PFC1	ACTR1A	0.344575398	5.66E-05	Cytoskeletal protein	BrainSpLMD|10121;Eurexp|euxassay_006567|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605143
EN-PFC1	FAM215B	0.513436852	5.70E-05			
EN-PFC1	SMAD2	0.367015332	5.78E-05	DNA binding protein	BrainSpLMD|4087;Eurexp|euxassay_000185|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, nerve fibre layer, nerve trunk, nuclear layer, roof plate, tegmentum, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|16896	OMIM|601366;COSMIC||colorectal carcinoma, hepatocellular carcinoma
EN-PFC1	CTIF	0.485662974	5.88E-05	RNA binding protein	BrainSpLMD|9811;Eurexp|euxassay_005716|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613178
EN-PFC1	CLIP3	0.547125225	6.04E-05	Cytoskeletal associated protein	BrainSpLMD|25999	OMIM|607382
EN-PFC1	DFFA	0.273508924	6.15E-05	Chaperone	BrainSpLMD|1676	OMIM|601882
EN-PFC1	CLCN3	0.456419059	6.23E-05	Voltage gated channel	BrainSpLMD|1182;Eurexp|euxassay_012819|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn, ventricular layer	OMIM|600580
EN-PFC1	ZNF84	0.277180636	6.51E-05	DNA binding protein	BrainSpLMD|7637	
EN-PFC1	BEX5	0.570536834	6.62E-05	Unclassified		OMIM|300693
EN-PFC1	ESCO1	0.256236402	6.72E-05	Enzyme: Transferase	BrainSpLMD|114799	OMIM|609674
EN-PFC1	TTBK2	0.327246354	6.75E-05	Protease	BrainSpLMD|146057;Eurexp|euxassay_010933|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X	OMIM|611695;HPO|146057|Adult onset, Autosomal dominant inheritance, Cerebellar atrophy, Difficulty walking, Dysarthria, Dysphagia, Gait imbalance, Horizontal nystagmus, Hyperreflexia, Jerky ocular pursuit movements, Nystagmus, Progressive cerebellar ataxia, Vertical nystagmus
EN-PFC1	SMCHD1	0.633922387	6.78E-05	Unclassified	BrainSpLMD|23347;Eurexp|euxassay_008416|embryo	OMIM|614982;HPO|23347|Abdominal wall muscle weakness, Abnormality of the eyelashes, Abnormality of the midface, Abnormality of the retinal vasculature, Absent nares, Amblyopia, Anophthalmia, Anosmia, Aplasia of the nose, Autosomal dominant inheritance, Beevor's sign, Blindness, Cataract, Choanal atresia, Cleft palate, Coloboma, Cryptorchidism, Digenic inheritance, EMG abnormality, Elevated serum creatine phosphokinase, Facial palsy, Failure of eruption of permanent teeth, Foot dorsiflexor weakness, Gynecomastia, High palate, Hyperlordosis, Hypertelorism, Hypogonadism, Hypoplasia of penis, Hypoplasia of the olfactory bulb, Hyposmia, Inguinal hernia, Iris coloboma, Mask-like facies, Micropenis, Microphthalmia, Midface retrusion, Misalignment of teeth, Palpebral edema, Pelvic girdle muscle weakness, Primary amenorrhea, Scapulohumeral muscular dystrophy, Sensorineural hearing impairment, Single naris, Skeletal muscle atrophy, Visual loss
EN-PFC1	MAGEE1	0.490368118	6.88E-05	Unclassified	BrainSpLMD|57692	OMIM|300759
EN-PFC1	NR2C2	0.357665337	7.30E-05	Nuclear receptor	BrainSpLMD|7182;BrainSpMouseDev|21783	OMIM|601426
EN-PFC1	WDPCP	0.794001641	7.65E-05	Unclassified	BrainSpLMD|51057;Eurexp|euxassay_014120|choroid invagination, choroid plexus, epithelium, floor plate, floorplate, larynx, mantle layer, naso-lacrimal duct, olfactory, oral epithelium, roof plate, tegmentum	OMIM|613580;HPO|51057|2-3 finger syndactyly, Abnormal electroretinogram, Aplasia/Hypoplasia of the iris, Autosomal recessive inheritance, Benign neoplasm of the central nervous system, Broad hallux, Cataract, Chorioretinal abnormality, Cleft palate, Coarctation of aorta, Complete atrioventricular canal defect, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Encephalocele, Full cheeks, Hamartoma of tongue, Hypertelorism, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Lobar holoprosencephaly, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Nystagmus, Obesity, Oligohydramnios, Optic atrophy, Patent ductus arteriosus, Pigmentary retinopathy, Postaxial foot polydactyly, Postaxial hand polydactyly, Sclerocornea, Short stature, Sloping forehead, Subvalvular aortic stenosis, Talipes
EN-PFC1	PPP1R11	0.750852422	7.65E-05	Regulatory/other subunit	BrainSpLMD|6992;Eurexp|euxassay_007087|embryo	OMIM|606670
EN-PFC1	RRAGB	0.372761858	7.70E-05	Guanine nucleotide exchange factor	BrainSpLMD|10325	OMIM|300725
EN-PFC1	RAB1A	0.316239342	7.78E-05	GTPase	BrainSpLMD|5861	OMIM|179508
EN-PFC1	DPP8	0.39047867	7.94E-05	Aminopeptidase	BrainSpLMD|54878	OMIM|606819
EN-PFC1	PRKAG2	0.833085276	7.97E-05	Serine/threonine kinase	BrainSpLMD|51422	OMIM|602743;HPO|51422|Ascites, Asymmetric septal hypertrophy, Atrial fibrillation, Atrioventricular block, Autosomal dominant inheritance, Autosomal recessive inheritance, Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Congestive heart failure, Cyanosis, Heterogeneous, Hypertrophic cardiomyopathy, Hypotension, Left bundle branch block, Neonatal hypoglycemia, Palpitations, Paroxysmal atrial fibrillation, Paroxysmal supraventricular tachycardia, Prolonged QRS complex, Pulmonary edema, Shortened PR interval, Sinus bradycardia, Stroke, Sudden cardiac death, Ventricular preexcitation, Ventricular preexcitation with multiple accessory pathways, Wolff-Parkinson-White syndrome
EN-PFC1	EBP	0.294456652	8.03E-05	Enzyme: Isomerase	BrainSpLMD|10682;Eurexp|euxassay_010690|lobe, mandible, maxilla, orbito-sphenoid	OMIM|300205;HPO|10682|2-3 toe syndactyly, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the pinna, Abnormality of the thorax, Alopecia, Aortic valve stenosis, Bilateral talipes equinovarus, Cataract, Concave nasal ridge, Congenital ichthyosiform erythroderma, Congenital onset, Cryptorchidism, Dandy-Walker malformation, Downslanted palpebral fissures, Edema, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol, Epicanthus, Epiphyseal stippling, Erythema, Erythroderma, Failure to thrive, Flat face, Frontal bossing, Generalized hypotonia, Glaucoma, Global developmental delay, Hearing impairment, Hemiatrophy, Hemivertebrae, High palate, Hydrocephalus, Hydronephrosis, Hyperactivity, Ichthyosis, Intellectual disability, Intellectual disability, moderate, Joint dislocation, Kyphosis, Long fingers, Low-set ears, Malar flattening, Microphthalmia, Microretrognathia, Midface retrusion, Nystagmus, Optic atrophy, Overlapping fingers, Overlapping toe, Patellar dislocation, Phenotypic variability, Polydactyly, Polyhydramnios, Postnatal growth retardation, Prominent nasal bridge, Ptosis, Punctate vertebral calcifications, Scarring alopecia of scalp, Scoliosis, Seizures, Short neck, Short stature, Sparse and thin eyebrow, Sparse eyelashes, Stippled calcification in carpal bones, Tarsal stippling, Tracheal calcification, Tracheal stenosis, Variable expressivity, X-linked dominant inheritance, X-linked recessive inheritance
EN-PFC1	EIF4E3	0.788288529	8.28E-05	RNA binding protein	BrainSpLMD|317649;Eurexp|euxassay_007888|neural retina, olfactory, vomeronasal organ	OMIM|609896
EN-PFC1	DNAJC13	0.56002315	8.29E-05	Unclassified;Chaperone	BrainSpLMD|23317;Eurexp|euxassay_010999|thymus primordium	OMIM|614334;HPO|23317|Autosomal dominant inheritance, Bradykinesia, Lewy bodies, Parkinsonism, Postural instability, Rigidity, Slow progression, Tremor
EN-PFC1	ZYG11B	0.346809755	8.37E-05	Unclassified	BrainSpLMD|79699	
EN-PFC1	TMEM168	0.332958847	8.41E-05	Unclassified	BrainSpLMD|64418;Eurexp|euxassay_008135|ventricle	
EN-PFC1	TM2D3	0.262956448	8.97E-05	Integral membrane protein	BrainSpLMD|80213	OMIM|610014
EN-PFC1	MEST	0.356280577	8.99E-05	Enzyme: Hydrolase	BrainSpLMD|4232;Eurexp|euxassay_003445|atrium, ventricle;BrainSpMouseDev|17063	OMIM|601029
EN-PFC1	ZNF213.AS1	0.850055927	9.26E-05			
EN-PFC1	GLTSCR1L	0.270633827	9.29E-05			
EN-PFC1	AC011043.1	0.652274468	9.47E-05			
EN-PFC1	PRKD1	0.718134335	9.87E-05	Serine/threonine kinase	BrainSpLMD|5587	SFARI||Autism, No category;OMIM|605435;HPO|5587|Autosomal dominant inheritance, Broad thumb, Delayed speech and language development, Depressed nasal bridge, Dry skin, Feeding difficulties, Fragile nails, Generalized hypotonia, Global developmental delay, Microcephaly, Microdontia, Nystagmus, Premature loss of primary teeth, Prominent forehead, Prominent nasal bridge, Scoliosis, Sparse scalp hair, Syndactyly, Thin skin, Widely spaced teeth
EN-PFC1	STRADA	0.459504829	0.000100621	Unclassified	BrainSpLMD|92335;Eurexp|euxassay_001675|thymus primordium	OMIM|608626;HPO|92335|Astrocytosis, Autosomal recessive inheritance, Difficulty walking, Facial hypotonia, Feeding difficulties, Generalized hypotonia, Global developmental delay, Inability to walk, Intellectual disability, Megalencephaly, Open mouth, Seizures, Strabismus, Ventriculomegaly
EN-PFC1	RNPC3	0.397131674	0.000103568	RNA binding protein	BrainSpLMD|55599;Eurexp|euxassay_013667|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vomeronasal organ	
EN-PFC1	FAXC	0.363140069	0.000103836	Unclassified	BrainSpLMD|84553	
EN-PFC1	DHX29	0.32760819	0.000104631	RNA helicase	BrainSpLMD|54505	OMIM|612720
EN-PFC1	USP37	0.526520845	0.000109693	Ubiquitin proteasome system protein	BrainSpLMD|57695	
EN-PFC1	RP11.274B21.10	0.405658978	0.000109885			
EN-PFC1	SNORA73	0.404536336	0.000113037			
EN-PFC1	YIPF4	0.452880719	0.000114513	Unclassified	BrainSpLMD|84272	OMIM|617534
EN-PFC1	RP11.384K6.6	0.360820208	0.000115219			
EN-PFC1	NEK1	0.255477786	0.000117175	Serine/threonine kinase	BrainSpLMD|4750;Eurexp|euxassay_014225|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, ventral grey horn	OMIM|604588;HPO|4750|Ambiguous genitalia, Amyotrophic lateral sclerosis, Anxiety, Autosomal recessive inheritance, Cleft palate, Depressivity, Digenic inheritance, Disproportionate shortening of the tibia, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Hamartoma of tongue, Horizontal ribs, Hydrops fetalis, Hypoplasia of the epiglottis, Lateral clavicle hook, Median cleft lip, Muscle cramps, Narrow chest, Neurodegeneration, Pain, Paralysis, Polycystic kidney dysplasia, Polysyndactyly of hallux, Postaxial hand polydactyly, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Pulmonary hypoplasia, Respiratory failure, Short ribs, Skeletal muscle atrophy, Spasticity, Thoracic dysplasia, Xerostomia
EN-PFC1	FAM213A	0.33477282	0.000118826	Unclassified	BrainSpLMD|84293;Eurexp|euxassay_008864|bladder, brain, calyces, cervical, cervico-thoracic, cochlea, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, incisor, left lung, liver, lung, midgut, molar, naris, nasal cavity, naso-lacrimal duct, olfactory, pelvis, pharyngo-tympanic tube, rectum, retina, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thoracic, trigeminal V, ureter, utricle, vagus X, vestibulocochlear VIII, vibrissa	OMIM|617165
EN-PFC1	C12orf4	0.526902791	0.000118857	Unclassified	BrainSpLMD|57102	OMIM|616082
EN-PFC1	CACNA1B	0.603287948	0.000120346	Voltage gated channel	BrainSpLMD|774;BrainSpMouseDev|12072	SFARI||Autism, No category;OMIM|601012;HPO|774|Adult onset, Autosomal dominant inheritance, Axial dystonia, Dysphonia, Gait disturbance, Head tremor, Limb dystonia, Myoclonus, Progressive, Torticollis, Writer's cramp
EN-PFC1	TAOK1	0.268580149	0.000121107	Serine/threonine kinase	BrainSpLMD|57551;Eurexp|euxassay_011509|adrenal gland, brain, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, left lung, metanephros, retina, right lung, spinal cord, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|610266
EN-PFC1	ANAPC5	0.459360146	0.000126825	Cell cycle control protein	BrainSpLMD|51433	OMIM|606948
EN-PFC1	SPOP	0.337262396	0.000131541	Transcription regulatory protein	BrainSpLMD|8405;Eurexp|euxassay_007475|embryo	OMIM|602650;COSMIC||prostate, endometrial, prostate cancer
EN-PFC1	OIP5.AS1	0.322868318	0.000131931			
EN-PFC1	RASA4	0.400939469	0.00013405	GTPase activating protein	BrainSpLMD|10156	OMIM|607943
EN-PFC1	VPS72	0.415936297	0.000139151	Transcription factor	BrainSpLMD|6944	OMIM|600607
EN-PFC1	FAM222B	0.459903363	0.000145613	Unclassified	BrainSpLMD|55731	
EN-PFC1	PDIK1L	0.50605071	0.000151776	Serine/threonine kinase	BrainSpLMD|149420	OMIM|610785
EN-PFC1	PLAGL1	0.549803717	0.000152496	Transcription regulatory protein	BrainSpLMD|5325;BrainSpMouseDev|22391	OMIM|603044;HPO|5325|Abnormality of earlobe, Abnormality of the pancreatic islet cells, Arthrogryposis multiplex congenita, Bilateral ptosis, Cardiomegaly, Contractures of the joints of the lower limbs, Cryptorchidism, Dehydration, Downturned corners of mouth, Failure to thrive, Generalized myoclonic seizures, Gingival overgrowth, Global developmental delay, Glycosuria, Hepatomegaly, High palate, Hyperglycemia, Hypoplastic fingernail, Hypovolemia, Intellectual disability, Intrauterine growth retardation, Ketonuria, Labial hypertrophy, Macroglossia, Micrognathia, Motor delay, Neonatal insulin-dependent diabetes mellitus, Neonatal respiratory distress, Oligohydramnios, Postnatal growth retardation, Precocious puberty, Prominent metopic ridge, Prominent nose, Prominent occiput, Retrognathia, Shallow orbits, Small anterior fontanelle, Transient neonatal diabetes mellitus, Umbilical hernia, Ventricular septal defect, Weight loss
EN-PFC1	GABBR1	0.562669946	0.000153724	G protein coupled receptor	BrainSpLMD|2550;Eurexp|euxassay_009799|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|33684	OMIM|603540
EN-PFC1	TSPAN18	0.828604985	0.00016084	Integral membrane protein	BrainSpLMD|90139;Eurexp|euxassay_002400|ventricular layer	
EN-PFC1	PPP3CB	0.638738699	0.000161156	Serine/threonine phosphatase	BrainSpLMD|5532	OMIM|114106
EN-PFC1	RP1.78O14.1	0.616547014	0.000161733			
EN-PFC1	LINC01420	0.325869821	0.000163776			
EN-PFC1	GNB4	0.581069316	0.000168244	G protein	BrainSpLMD|59345;Eurexp|euxassay_006820|aortic valve, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, mitral valve, neural retina, pulmonary valve, thoracic, tricuspid valve, trigeminal V, vagus X, valve, ventral grey horn;BrainSpMouseDev|14472	OMIM|610863;HPO|59345|Autosomal dominant inheritance, Axonal regeneration, Distal sensory impairment, Hammertoe, Hyporeflexia, Onion bulb formation, Pes cavus, Slow progression, Steppage gait
EN-PFC1	IGF2BP2	0.312584831	0.000170509	RNA binding protein	BrainSpLMD|10644	OMIM|608289
EN-PFC1	FYTTD1	0.332915893	0.000171556	Unclassified	BrainSpLMD|84248;Eurexp|euxassay_000220|central nervous system, epidermal component, epithelium, liver, mesenchyme, olfactory	OMIM|616933
EN-PFC1	NSMAF	0.404278082	0.00017999	Adapter molecule	BrainSpLMD|8439;Eurexp|euxassay_007628|mantle layer, testis	OMIM|603043
EN-PFC1	COTL1	0.496101512	0.000180667	Unclassified	BrainSpLMD|23406;Eurexp|euxassay_010951|cortex, embryo, epithelium, lens, mantle layer, marginal layer, midgut, neural retina, olfactory, stomach, thymus primordium, trachea, ventricular layer;BrainSpMouseDev|47883	OMIM|606748
EN-PFC1	ZNF550	0.645872279	0.000183499	DNA binding protein	BrainSpLMD|162972	
EN-PFC1	TMEM175	0.338462491	0.000185028	Unclassified	BrainSpLMD|84286	OMIM|616660
EN-PFC1	RAB11A	0.359073302	0.000185995	GTPase	BrainSpLMD|8766	OMIM|605570
EN-PFC1	SLC35E2B	0.314718137	0.000186945	-	BrainSpLMD|728661	
EN-PFC1	UBE2Q2P1	0.568254364	0.000187038		BrainSpLMD|388165	
EN-PFC1	RP11.484D2.4	0.353515134	0.000187611			
EN-PFC1	THAP6	0.499957683	0.000188101	DNA binding protein	BrainSpLMD|152815	OMIM|612535
EN-PFC1	FARP1	0.432051282	0.000192967	Guanine nucleotide exchange factor	BrainSpLMD|10160	OMIM|602654
EN-PFC1	GK5	0.251485751	0.000200091	Unclassified	BrainSpLMD|256356;Eurexp|euxassay_001871|olfactory, submandibular gland primordium	
EN-PFC1	ENOX1	0.518501811	0.000201188	RNA binding protein	BrainSpLMD|55068;Eurexp|euxassay_010501|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610914
EN-PFC1	UBE2H	0.373098838	0.000201373	Ubiquitin proteasome system protein	BrainSpLMD|7328	SFARI||Autism, 4 - Minimal evidence;OMIM|601082
EN-PFC1	ATXN7	0.773481212	0.000211336	Unclassified	BrainSpLMD|6314;Eurexp|euxassay_007505|alimentary system, cardiovascular system, cavities and their linings, ganglion, gland, integumental system, limb, mantle layer, mesenchyme, nerve, peripheral nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system	SFARI||Autism, 5 - Hypothesized but untested;OMIM|607640;HPO|6314|Abnormality of extrapyramidal motor function, Autosomal dominant inheritance, Babinski sign, Chorea, Dysmetria, Dysphagia, Genetic anticipation with paternal anticipation bias, Macular degeneration, Olivopontocerebellar atrophy, Orofacial dyskinesia, Pigmentary retinal degeneration, Progressive visual loss, Slow saccadic eye movements, Spasticity, Supranuclear ophthalmoplegia
EN-PFC1	RP11.421N8.1	0.354138771	0.000219246			
EN-PFC1	RP11.809C9.2	0.691171257	0.000220351			
EN-PFC1	LRP12	0.522921927	0.000220525	Cell surface receptor	BrainSpLMD|29967;Eurexp|euxassay_002372|brain, cervical, cervico-thoracic, dorsal root ganglion, nasal septum, spinal cord, thoracic, trigeminal V, turbinate bones	
EN-PFC1	RP11.216M21.1	0.43814833	0.000223272			
EN-PFC1	ARMCX1	0.856908099	0.000224733	Unclassified	BrainSpLMD|51309;Eurexp|euxassay_002320|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	OMIM|300362
EN-PFC1	CAMKK2	0.56459456	0.000228335	Enzyme: Phosphorylase	BrainSpLMD|10645;Eurexp|euxassay_003670|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, midbrain, neural retina, telencephalon, testis, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|615002
EN-PFC1	FARSB	0.358723706	0.000228355	Enzyme: Ligase	BrainSpLMD|10056;Eurexp|euxassay_006146|axial muscle, brain, cortex, cranial muscle, dorsal root ganglion, excretory component, glossopharyngeal IX, liver, lung, midgut, olfactory, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|609690
EN-PFC1	USP15	0.449888024	0.000232394	Ubiquitin proteasome system protein	BrainSpLMD|9958;Eurexp|euxassay_005002|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, olfactory, respiratory, spinal cord, submandibular gland primordium, thoracic, thymus primordium, trigeminal V	SFARI||Autism, 3 - Suggestive evidence;OMIM|604731
EN-PFC1	WDR47	0.311823714	0.000236379	Unclassified	BrainSpLMD|22911;Eurexp|euxassay_004509|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|615734
EN-PFC1	CPEB3	0.379752613	0.000239748	Unclassified	BrainSpLMD|22849	OMIM|610606
EN-PFC1	C16orf45	0.389233057	0.000245579	Unclassified	BrainSpLMD|89927;Eurexp|euxassay_002917|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, penis, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
EN-PFC1	ARHGEF10	0.625452772	0.000249559	Guanine nucleotide exchange factor	BrainSpLMD|9639	OMIM|608136;HPO|9639|Adult onset, Autosomal dominant inheritance, Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination
EN-PFC1	MKL2	0.359249169	0.000251623	Transcription factor	BrainSpLMD|57496	SFARI||Autism, 4 - Minimal evidence;OMIM|609463
EN-PFC1	WDR7	0.8451944	0.000256578	Unclassified	BrainSpLMD|23335;Eurexp|euxassay_012727|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vomeronasal organ	OMIM|613473
EN-PFC1	TGFBR1	0.475944203	0.000258956	Receptor serine/threonine kinase	BrainSpLMD|7046;Eurexp|euxassay_018304|olfactory, vomeronasal organ;BrainSpMouseDev|21571	OMIM|190181;HPO|7046|Abnormality of the iris, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Arachnodactyly, Arterial dissection, Arterial tortuosity, Ascending aortic dissection, Atypical scarring of skin, Bifid uvula, Blue sclerae, Camptodactyly of finger, Cardiomegaly, Chest pain, Coronary artery disease, Craniosynostosis, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Exertional dyspnea, High palate, Hypertelorism, Hypertension, Left ventricular failure, Malar flattening, Micrognathia, Oral cleft, Paroxysmal dyspnea, Patent ductus arteriosus, Pes planus, Scoliosis, Striae distensae, Tall stature, Uterine rupture
EN-PFC1	PRKAA2	0.626254497	0.00025964	Serine/threonine kinase	BrainSpLMD|5563;Eurexp|euxassay_006001|left lung, right lung, ventricle	OMIM|600497
EN-PFC1	B4GALNT1	0.352017058	0.000260986	Enzyme: Synthase	BrainSpLMD|2583;Eurexp|euxassay_002539|brain, diencephalon, dorsal root ganglion, facial VII, foregut-midgut junction, glossopharyngeal IX, hindbrain, hindgut, incisor, mantle layer, marginal layer, midbrain, midgut, molar, neural retina, spinal cord, stomach, stroma, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|601873
EN-PFC1	DTX4	0.999691019	0.000263969	Ubiquitin proteasome system protein	Eurexp|euxassay_015898|floor plate, floorplate, ventricular layer;BrainSpMouseDev|83873	OMIM|616110
EN-PFC1	PCNX	0.47800981	0.000265546			
EN-PFC1	HSDL1	0.692576612	0.000269014	Enzyme: Dehydrogenase	BrainSpLMD|83693	
EN-PFC1	RABL2B	0.755632729	0.000272562	GTPase	BrainSpLMD|11158	OMIM|605413
EN-PFC1	ANKRD39	0.472307488	0.000273877	Unclassified	BrainSpLMD|51239;Eurexp|euxassay_006471|dorsal root ganglion, ventral grey horn	
EN-PFC1	CNRIP1	1.019168136	0.000280815	Unclassified	BrainSpLMD|25927	
EN-PFC1	CAND1	0.269544569	0.000297314	Transcription regulatory protein	BrainSpLMD|55832	OMIM|607727
EN-PFC1	TTN	1.007060773	0.000298413	Structural protein;Enzyme: Phosphotransferase	BrainSpLMD|7273;Eurexp|euxassay_012439|atrium, diaphragm, extrinsic ocular muscle, footplate, mesenchyme, rest of mesenchyme, skeletal muscle, tarsus, ventricle, vertebral axis muscle system	SFARI||Autism, 4 - Minimal evidence;OMIM|188840;HPO|7273|Adult onset, Arrhythmia, Autosomal dominant inheritance, Autosomal recessive inheritance, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Childhood onset, Congenital onset, Diaphragmatic weakness, Dilated cardiomyopathy, Distal muscle weakness, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Facial palsy, Flexion contracture, Foot dorsiflexor weakness, Generalized muscle weakness, Hypertrophic cardiomyopathy, Incomplete penetrance, Infantile onset, Motor delay, Muscular dystrophy, Myopathy, Neck flexor weakness, Proximal muscle weakness, Ptosis, Rimmed vacuoles, Scoliosis, Slow progression, Steppage gait, Sudden death
EN-PFC1	HKR1	0.65711171	0.000300602	Transcription regulatory protein	BrainSpLMD|284459	OMIM|165250
EN-PFC1	KATNBL1	0.303777326	0.00031634	Unclassified		OMIM|616235
EN-PFC1	COMMD7	0.648116538	0.000318291	Unclassified		OMIM|616703
EN-PFC1	TRIM27	0.454902742	0.000320138	DNA binding protein	BrainSpLMD|5987;Eurexp|euxassay_018270|embryo	OMIM|602165;COSMIC||papillary thyroid
EN-PFC1	ZNF546	0.25421532	0.000320896	DNA binding protein	BrainSpLMD|339327	
EN-PFC1	BIVM	0.447127988	0.000324768	Unclassified	BrainSpLMD|54841	
EN-PFC1	SIKE1	0.704753891	0.000327636	Unclassified	BrainSpLMD|80143;Eurexp|euxassay_012757|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, ventricle, vestibulocochlear VIII	OMIM|611656
EN-PFC1	KBTBD11	0.791499147	0.000333101	Unclassified	BrainSpLMD|9920;Eurexp|euxassay_008912|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
EN-PFC1	CDK9	0.57742327	0.00034263	Serine/threonine kinase	BrainSpLMD|1025	OMIM|603251
EN-PFC1	RABL2A	0.50456741	0.00034298	GTPase		OMIM|605412
EN-PFC1	ZNF529	0.860841221	0.000346016	DNA binding protein	BrainSpLMD|57711	
EN-PFC1	METAP1	0.521779222	0.000350232	Aminopeptidase	BrainSpLMD|23173	OMIM|610151
EN-PFC1	PRRC2B	0.282310037	0.000356452	Unclassified	BrainSpLMD|84726;Eurexp|euxassay_012252|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vomeronasal organ	
EN-PFC1	HEATR5B	0.645596425	0.000360018	Unclassified		
EN-PFC1	PSMD10	0.449521527	0.000360813	Regulatory/other subunit	BrainSpLMD|5716	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300880
EN-PFC1	DNAJC18	0.458200043	0.000377806	Unclassified	BrainSpLMD|202052;Eurexp|euxassay_012133|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones	
EN-PFC1	KIAA1549L	0.681139405	0.00038964	Unclassified	BrainSpLMD|25758;Eurexp|euxassay_013276|facial VII, mantle layer, marginal layer, ventral grey horn	OMIM|612297
EN-PFC1	NRBF2	0.55613374	0.000392577	Transcription regulatory protein	BrainSpLMD|29982	OMIM|616477
EN-PFC1	GNAI1	0.507240291	0.000393935	G protein	BrainSpLMD|2770;Eurexp|euxassay_009056|dorsal root ganglion	OMIM|139310
EN-PFC1	KDM1B	0.50401325	0.000405151	Unclassified		OMIM|613081
EN-PFC1	CEP57	0.255838684	0.000407322	Transport/cargo protein	BrainSpLMD|9702;Eurexp|euxassay_006338|ventricular layer	OMIM|607951;HPO|9702|Abnormality of vision, Aortic regurgitation, Ascites, Atrial septal defect, Autosomal recessive inheritance, Cataract, Clinodactyly, Coarctation of aorta, Corneal opacity, Dandy-Walker malformation, Epicanthus, Generalized hypotonia, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Intrauterine growth retardation, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Phenotypic variability, Polyhydramnios, Short stature, Small for gestational age, Subvalvular aortic stenosis, Triangular face, Ventricular septal defect
EN-PFC1	DCAF16	0.369887064	0.000408029	Unclassified	BrainSpLMD|54876	
EN-PFC1	CHCHD6	0.655598102	0.000412715	Unclassified	BrainSpLMD|84303	OMIM|615634
EN-PFC1	ZNF641	0.37587222	0.000414294	Transcription factor	BrainSpLMD|121274	OMIM|613906
EN-PFC1	PFDN4	0.305971253	0.000415159	Chaperone	BrainSpLMD|5203	OMIM|604898
EN-PFC1	C16orf87	0.324426192	0.000423207	Unclassified	BrainSpLMD|388272;Eurexp|euxassay_000571|Meckel's cartilage, axial skeleton, head mesenchyme, incisor, lung, oesophagus, otic capsule, turbinate bones, urethra, vertebral axis muscle system	
EN-PFC1	PCMT1	0.420368858	0.000427833	Enzyme: Methyltransferase	BrainSpLMD|5110	OMIM|176851
EN-PFC1	C7orf73	0.504263762	0.000432758			
EN-PFC1	C14orf169	0.917375854	0.000443433			
EN-PFC1	ZFP30	0.751585761	0.000451938	DNA binding protein	BrainSpLMD|22835	OMIM|617317
EN-PFC1	ZNF770	0.433194499	0.000453614	DNA binding protein	BrainSpLMD|54989	
EN-PFC1	SPTBN2	0.589948861	0.000456581	Cytoskeletal associated protein	BrainSpLMD|6712	OMIM|604985;HPO|6712|Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Cognitive impairment, Delayed speech and language development, Dysarthria, Dysdiadochokinesis, Dysmetria, Facial myokymia, Gait ataxia, Gait disturbance, Gaze-evoked nystagmus, Global developmental delay, Hyperreflexia, Impaired smooth pursuit, Impaired vibratory sensation, Incoordination, Infantile onset, Intention tremor, Limb ataxia, Slow progression, Slurred speech
EN-PFC1	MEIS3	0.322677054	0.00046763	Transcription regulatory protein	BrainSpLMD|56917;BrainSpMouseDev|17304	
EN-PFC1	TMEM19	0.691770068	0.000470471	Integral membrane protein	BrainSpLMD|55266	
EN-PFC1	ZC3H11A	0.298657602	0.000474629	DNA binding protein	BrainSpLMD|9877	OMIM|613513
EN-PFC1	KLC1	0.518095409	0.000481447	Motor protein	BrainSpLMD|3831;Eurexp|euxassay_009774|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|600025
EN-PFC1	USP3	0.4324209	0.000485366	Ubiquitin proteasome system protein	BrainSpLMD|9960	OMIM|604728
EN-PFC1	CCPG1	0.69164293	0.000489068	Unclassified	BrainSpLMD|9236;Eurexp|euxassay_010511|clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, maxilla, olfactory, orbito-sphenoid, rib, trigeminal V, vagus X	OMIM|611326
EN-PFC1	AMER3	0.58676383	0.000491617	Unclassified	BrainSpLMD|205147	
EN-PFC1	ATXN7L1	0.705316181	0.000504658	Unclassified	BrainSpLMD|222255	
EN-PFC1	RAB11FIP2	0.413711876	0.000511355	Adapter molecule	BrainSpLMD|22841;Eurexp|euxassay_014448|ductus deferens, ventricular layer	OMIM|608599
EN-PFC1	CEP135	0.554504216	0.000524337	Unclassified	BrainSpLMD|9662	SFARI||Autism, 3 - Suggestive evidence;OMIM|611423;HPO|9662|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Congenital onset, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, severe, Microcephaly, Pachygyria, Retrognathia, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
EN-PFC1	TMEM161B	0.46314305	0.000530832	Integral membrane protein	BrainSpLMD|153396	
EN-PFC1	MTFR1L	0.343105873	0.000531106	Unclassified	BrainSpLMD|56181;Eurexp|euxassay_007068|embryo	
EN-PFC1	MCCC1	0.306332365	0.00054543	Enzyme: Carboxylase	BrainSpLMD|56922	OMIM|609010;HPO|56922|Abnormality of leucine metabolism, Abnormality of movement, Acute hepatic steatosis, Acute hyperammonemia, Autosomal recessive inheritance, Coma, Episodic metabolic acidosis, Failure to thrive, Failure to thrive in infancy, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Heterogeneous, Hyperammonemia, Hyperreflexia, Hypoglycemia, Intellectual disability, Ketonuria, Lethargy, Muscular hypotonia, Opisthotonus, Organic aciduria, Phenotypic variability, Seizures, Vomiting
EN-PFC1	CUL2	0.413212785	0.000557718	Ubiquitin proteasome system protein	BrainSpLMD|8453;Eurexp|euxassay_002364|cervical, cervico-thoracic, dorsal root ganglion, thoracic, trigeminal V	OMIM|603135
EN-PFC1	NUDCD3	0.269792611	0.000563404	Unclassified	BrainSpLMD|23386	OMIM|610296
EN-PFC1	ZNF280B	1.166997437	0.000565201	Transcription regulatory protein	BrainSpLMD|140883	
EN-PFC1	PEAK1	0.388263566	0.000565506	Tyrosine kinase		OMIM|614248
EN-PFC1	GRK4	0.892472114	0.000567613	Serine/threonine kinase	BrainSpLMD|2868;BrainSpMouseDev|14548	OMIM|137026
EN-PFC1	SLC4A8	0.431483053	0.000589872	Membrane transport protein	BrainSpLMD|9498;Eurexp|euxassay_002110|adrenal gland, brain, calyces, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, pelvis, spinal cord, stroma, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|605024
EN-PFC1	ASTN1	0.768988827	0.000594665	Adhesion molecule	BrainSpLMD|460;BrainSpMouseDev|11686	OMIM|600904
EN-PFC1	CCDC91	0.38967805	0.000611205	Unclassified	BrainSpLMD|55297;Eurexp|euxassay_012418|vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|617366
EN-PFC1	CEP41	0.38987922	0.000612422	Unclassified	BrainSpLMD|95681;Eurexp|euxassay_000172|muscle	SFARI||Autism, 3 - Suggestive evidence;OMIM|610523;HPO|95681|Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Cerebellar vermis hypoplasia, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Intellectual disability, Long face, Micropenis, Molar tooth sign on MRI, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Polydactyly, Retinal dystrophy
EN-PFC1	UTP6	0.318430988	0.000624486	Unclassified	BrainSpLMD|55813	
EN-PFC1	GLS	0.455682271	0.000625503	Enzyme: Deaminase	BrainSpLMD|2744;BrainSpMouseDev|14436	OMIM|138280
EN-PFC1	PIGP	1.041119762	0.000627175	Enzyme: Transferase	BrainSpLMD|51227	OMIM|605938
EN-PFC1	PDE10A	0.41931527	0.000627593	Enzyme: Phosphodiesterase	BrainSpLMD|10846;Eurexp|euxassay_000057|alar plate, basal plate, cerebellum, cerebral cortex, dorsal root ganglion, epithalamus, facial VII, floor plate, floorplate, glossopharyngeal IX, lateral wall, mantle layer, neural retina, pons, roof plate, spinal cord, tegmentum, telencephalon, thalamus, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|23735	OMIM|610652;HPO|10846|Abnormality of the striatum, Autosomal dominant inheritance, Autosomal recessive inheritance, Chorea, Drooling, Dysarthria, Dyskinesia, Frequent falls, Hyperkinesis, Infantile onset, Intellectual disability, Mental deterioration, Motor delay, Muscular hypotonia of the trunk, Nonprogressive, Orofacial dyskinesia, Parkinsonism, Seizures, Unsteady gait
EN-PFC1	RPGRIP1L	1.090953828	0.000644653	Unclassified		OMIM|610937;HPO|23322|Abnormality of the corpus callosum, Abnormality of the urinary system, Anencephaly, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Bowing of the long bones, Brainstem dysplasia, Cataract, Central apnea, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cirrhosis, Cleft palate, Cleft upper lip, Coloboma, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Elevated hepatic transaminases, Encephalocele, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Heterogeneous, Hyperreflexia, Hypertelorism, Hypoplasia of the brainstem, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intrahepatic biliary atresia, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Multiple small medullary renal cysts, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nephropathy, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic nerve coloboma, Phenotypic variability, Portal hypertension, Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Ptosis, Renal cyst, Renal insufficiency, Retinal dystrophy, Round face, Sclerocornea, Scoliosis, Sloping forehead, Spasticity, Splenomegaly, Talipes, Visual impairment, Wide mouth
EN-PFC1	TOMM20	0.392077702	0.000653913	Membrane transport protein	BrainSpLMD|9804	SFARI||Autism, 5 - Hypothesized but untested;OMIM|601848
EN-PFC1	TAF11	0.596001458	0.000669108	Transcription regulatory protein	BrainSpLMD|6882	OMIM|600772
EN-PFC1	RALGPS2	0.524846591	0.000677881	Guanine nucleotide exchange factor	BrainSpLMD|55103;Eurexp|euxassay_004996|bladder, brain, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, incisor, molar, rest of mesenchyme, retina, skeletal muscle, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	
EN-PFC1	ZNF429	0.540606219	0.000682701	DNA binding protein	BrainSpLMD|353088	COSMIC||GBM
EN-PFC1	CPT1C	0.258528503	0.000693687	Enzyme: Palmitoyltransferase	BrainSpLMD|126129;Eurexp|euxassay_018893|brain, cervical, cervico-thoracic, dorsal root ganglion, drainage component, facial VII, glossopharyngeal IX, marginal layer, medulla, midgut, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608846;HPO|126129|Adult onset, Autosomal dominant inheritance, Babinski sign, Difficulty walking, Hyperreflexia, Proximal muscle weakness, Skeletal muscle atrophy, Slow progression, Spastic paraplegia
EN-PFC1	KCNH7	0.424793701	0.000693797	Voltage gated channel	BrainSpLMD|90134;BrainSpMouseDev|82041	OMIM|608169
EN-PFC1	CLSTN1	0.992320293	0.000704535	Calcium binding protein	BrainSpLMD|22883;BrainSpMouseDev|41788	OMIM|611321
EN-PFC1	SLC12A2	0.253492816	0.000707756	Membrane transport protein	BrainSpLMD|6558;Eurexp|euxassay_008837|cortex, incisor, left lung, midgut, olfactory, pharyngo-tympanic tube, rectum, right lung, stomach, submandibular gland primordium;BrainSpMouseDev|20258	OMIM|600840
EN-PFC1	TMEM14B	0.363069124	0.000723032	Integral membrane protein	BrainSpLMD|81853	
EN-PFC1	TMEM167A	0.611704047	0.000726946	Integral membrane protein	BrainSpLMD|153339	
EN-PFC1	HMGA1	0.635612467	0.000740609	DNA binding protein	BrainSpLMD|3159;Eurexp|euxassay_003457|bladder, cortex, epidermis, glomeruli, head mesenchyme, hindgut, incisor, left lung, lobe, marginal layer, midgut, neural retina, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, pituitary, rectum, respiratory, right lung, spleen primordium, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|15136	OMIM|600701;COSMIC||microfollicular thyroid adenoma, various benign mesenchymal tumours
EN-PFC1	TRIM16	0.812519411	0.000744087	Cytoskeletal protein	BrainSpLMD|10626	OMIM|609505
EN-PFC1	MARK1	0.432051716	0.000747553	Serine/threonine kinase	BrainSpLMD|4139;Eurexp|euxassay_013555|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	SFARI||Autism, 4 - Minimal evidence;OMIM|606511
EN-PFC1	PGD	0.36226547	0.000779863	Enzyme: Dehydrogenase	BrainSpLMD|5226;Eurexp|euxassay_010515|adrenal gland, axial muscle, dorsal root ganglion, liver, lung, mandible, maxilla, metanephros, midgut, orbito-sphenoid, stomach, thymus primordium	OMIM|172200
EN-PFC1	CCDC186	0.296758932	0.000783377	Unclassified	BrainSpLMD|55088	
EN-PFC1	UBE2K	0.431648378	0.000793105	Ubiquitin proteasome system protein	BrainSpLMD|3093	OMIM|602846
EN-PFC1	EED	0.704665142	0.000794052	Transcription regulatory protein	BrainSpLMD|8726;Eurexp|euxassay_017307|excretory component, liver, lung, thymus primordium, turbinate bones, ventricular layer;BrainSpMouseDev|13404	OMIM|605984;COSMIC||malignant peripheral nerve sheath tumours, MDS and related, lung adenocarcinoma;HPO|8726|Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Accelerated skeletal maturation, Broad foot, Broad forehead, Broad thumb, Camptodactyly of finger, Deep philtrum, Deep-set nails, Feeding difficulties in infancy, Fine hair, Global developmental delay, Hoarse voice, Hypertelorism, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Joint stiffness, Large hands, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Micrognathia, Redundant skin, Retrognathia, Round face, Spasticity, Tall stature, Thin nail
EN-PFC1	PNMAL1	0.768668825	0.000827804			
EN-PFC1	KPNA5	0.585274041	0.000837125	Transport/cargo protein	BrainSpLMD|3841	OMIM|604545
EN-PFC1	ATP8B2	0.585943976	0.00086428	ATPase	BrainSpLMD|57198;Eurexp|euxassay_007731|axial skeleton, basioccipital bone, basisphenoid bone, bladder, clavicle, footplate, handplate, mandible, mantle layer, maxilla, mesenchyme, nasal septum, orbito-sphenoid, otic capsule, paraxial mesenchyme, pelvic girdle, petrous part, primitive seminiferous tubules, rib, sternum, turbinate bones, vault of skull, ventral grey horn	OMIM|605867
EN-PFC1	UBP1	0.296315365	0.00086866	Transcription factor	BrainSpLMD|7342	OMIM|609784
EN-PFC1	SMC6	0.475291984	0.000881238	Unclassified	BrainSpLMD|79677	OMIM|609387
EN-PFC1	MECP2	0.562188242	0.000886155	DNA binding protein	BrainSpLMD|4204;Eurexp|euxassay_018349|dorsal root ganglion	SFARI||Autism, 2 - Strong candidate;OMIM|300005;HPO|4204|Abnormal T-wave, Abnormality of chromosome segregation, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of the antitragus, Abnormality of the dentition, Abnormality of the fingernails, Abnormality of the metacarpal bones, Absent speech, Anxiety, Aplasia/Hypoplasia of the cerebellum, Apnea, Apraxia, Ataxia, Autism, Autistic behavior, Babinski sign, Blepharophimosis, Brachycephaly, Bruxism, Cachexia, Camptodactyly of finger, Central hypoventilation, Cerebral cortical atrophy, Chorea, Choreoathetosis, Clinodactyly of the 5th finger, Congenital onset, Constipation, Cryptorchidism, Delayed skeletal maturation, Delayed speech and language development, Dementia, Depressed nasal bridge, Depressivity, Developmental regression, Drooling, Dysphagia, Dysphasia, Dystonia, EEG abnormality, Encephalopathy, Epicanthus, Everted lower lip vermilion, Excessive salivation, Facial hypotonia, Failure to thrive, Feeding difficulties in infancy, Fine hair, Gait apraxia, Gait ataxia, Gait disturbance, Gastroesophageal reflux, Global developmental delay, Hearing impairment, Hernia of the abdominal wall, High palate, Hyperreflexia, Hypospadias, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, mild, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Intermittent hyperventilation, Kyphosis, Long philtrum, Low-set ears, Macrocephaly, Macroorchidism, Macrotia, Malar flattening, Microcephaly, Micrognathia, Midface retrusion, Motor deterioration, Muscular hypotonia of the trunk, Myoclonus, Narrow mouth, Nephrolithiasis, Neurological speech impairment, Parkinsonism, Pectus excavatum, Pes cavus, Polymicrogyria, Poor eye contact, Postnatal microcephaly, Progressive, Progressive microcephaly, Progressive spasticity, Prolonged QTc interval, Psychosis, Ptosis, Recurrent respiratory infections, Respiratory insufficiency, Rigidity, Scoliosis, Seizures, Severe global developmental delay, Short foot, Short neck, Short stature, Shuffling gait, Skeletal muscle atrophy, Slow progression, Spastic gait, Spasticity, Stereotypy, Tented upper lip vermilion, Thick vermilion border, Tremor, Truncal ataxia, Underdeveloped nasal alae, Ventriculomegaly, Wide mouth, Wide nose, X-linked dominant inheritance, X-linked recessive inheritance
EN-PFC1	FCHSD2	0.67799749	0.000890264	Unclassified	BrainSpLMD|9873;Eurexp|euxassay_001442|dorsal root ganglion, trigeminal V	OMIM|617556
EN-PFC1	TTLL7	0.26188203	0.000913256	Enzyme: Ligase	BrainSpLMD|79739	
EN-PFC1	MTND2P28	0.295767075	0.000927139			
EN-PFC1	ZNF692	0.882550002	0.000954951	Transcription factor	BrainSpLMD|55657	OMIM|617758
EN-PFC1	ARL8B	0.513158253	0.000997795	GTPase	BrainSpLMD|55207	OMIM|616596
EN-PFC1	CHD8	0.35685302	0.00102491	DNA helicase		SFARI||Autism, 1 - High confidence;OMIM|610528
EN-PFC1	ATP6V0D1	0.407673773	0.001027787	ATPase	BrainSpLMD|9114;Eurexp|euxassay_000642|dorsal root ganglion, facial VII, inferior, superior, trigeminal V, vagus X	OMIM|607028
EN-PFC1	VMA21	0.264407375	0.001048888	Unclassified		OMIM|300913;HPO|203547|Difficulty climbing stairs, Difficulty running, Elevated serum creatine phosphokinase, Gowers sign, Incomplete penetrance, Myopathy, Myotonia, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Slow progression, X-linked recessive inheritance
EN-PFC1	RALGAPA1P	0.532673845	0.001051963			
EN-PFC1	HSPA13	0.463544301	0.001052532	Chaperone	BrainSpLMD|6782	OMIM|601100
EN-PFC1	NME7	0.298562076	0.001064157	Enzyme: Phosphotransferase	BrainSpLMD|29922;Eurexp|euxassay_003414|4th ventricle, incisor, lung, metanephros, molar, olfactory, oral cavity, oral epithelium, oral region, pancreas, pharyngo-tympanic tube, respiratory, submandibular gland primordium, tongue, ventricular layer, vibrissa	OMIM|613465
EN-PFC1	PTDSS1	0.459150357	0.001087608	Enzyme: Synthase	BrainSpLMD|9791;Eurexp|euxassay_003429|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa	OMIM|612792;HPO|9791|Abnormal cortical bone morphology, Abnormality of dental enamel, Abnormality of the dentition, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the nasolacrimal system, Agenesis of corpus callosum, Anteriorly placed anus, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the skin, Aplastic clavicles, Autosomal dominant inheritance, Brachydactyly, Broad clavicles, Broad forehead, Broad ribs, Choanal atresia, Choanal stenosis, Chordee, Cryptorchidism, Cutis laxa, Cutis marmorata, Delayed cranial suture closure, Delayed skeletal maturation, Diaphyseal thickening, Elbow ankylosis, Elbow flexion contracture, Epispadias, Facial hyperostosis, Facial palsy, Failure to thrive, Femoral hernia, Finger syndactyly, Flared metaphysis, Frontal bossing, Generalized hypotonia, Global developmental delay, Humeroradial synostosis, Hyperextensibility of the finger joints, Hypertelorism, Hypospadias, Inguinal hernia, Intellectual disability, Intellectual disability, moderate, Intrauterine growth retardation, Joint hyperflexibility, Knee flexion contracture, Lacrimal duct stenosis, Large fontanelles, Macrocephaly, Macrotia, Mandibular prognathia, Microglossia, Micrognathia, Osteopetrosis, Prematurely aged appearance, Progressive sclerosis of skull base, Prominent forehead, Prominent scalp veins, Proximal symphalangism of hands, Redundant skin, Relative macrocephaly, Sensorineural hearing impairment, Severe short stature, Short palm, Short stature, Sparse hair, Specific learning disability, Sporadic, Symphalangism affecting the phalanges of the hand, Syndactyly, Thick vermilion border, Thickened calvaria, Thin skin, Wide mouth
EN-PFC1	AMPH	0.354639376	0.001097903	Adapter molecule	BrainSpLMD|273	OMIM|600418
EN-PFC1	BCAS3	1.416344868	0.001102236	Cell cycle control protein	BrainSpLMD|54828	OMIM|607470
EN-PFC1	B4GALT3	0.360821064	0.001130034	Enzyme: Galactosyltransferase	BrainSpLMD|8703	OMIM|604014
EN-PFC1	OS9	0.45484166	0.001130857	Unclassified	BrainSpLMD|10956;Eurexp|euxassay_003123|Meckel's cartilage, cervical, cervico-thoracic, chondrocranium, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, lobe, molar, orbito-sphenoid, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|609677
EN-PFC1	ATXN1	0.437889843	0.001170457	RNA binding protein	BrainSpLMD|6310;BrainSpMouseDev|20001	OMIM|601556;HPO|6310|Abnormality of extrapyramidal motor function, Adult onset, Areflexia, Autosomal dominant inheritance, Babinski sign, Bulbar palsy, Chorea, Cognitive impairment, Dilated fourth ventricle, Distal amyotrophy, Dorsal column degeneration, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Dysphagia, Gaze-evoked nystagmus, Generalized hypotonia, Genetic anticipation with paternal anticipation bias, Hyperreflexia, Impaired horizontal smooth pursuit, Impaired vibratory sensation, Limb ataxia, Olivopontocerebellar atrophy, Optic atrophy, Optic disc pallor, Progressive cerebellar ataxia, Scanning speech, Slow saccadic eye movements, Spasticity, Spinocerebellar atrophy, Spinocerebellar tract degeneration, Supranuclear ophthalmoplegia, Truncal ataxia, Urinary bladder sphincter dysfunction
EN-PFC1	EIF1AXP1	0.296982055	0.001178253			
EN-PFC1	ERGIC2	0.372279331	0.00117934	Unclassified	BrainSpLMD|51290	OMIM|612236
EN-PFC1	STX6	0.340146533	0.001196191	Membrane transport protein	BrainSpLMD|10228	OMIM|603944
EN-PFC1	LRRTM2	0.659553689	0.001207227	Integral membrane protein	BrainSpLMD|26045	OMIM|610868
EN-PFC1	C9orf16	1.120417542	0.001209388	Unclassified	BrainSpLMD|79095;Eurexp|euxassay_000206|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn	
EN-PFC1	GABPB2	0.424991215	0.001214773	Unclassified	BrainSpLMD|126626	
EN-PFC1	LINC00665	0.386027058	0.001218552			
EN-PFC1	DTD2	0.517746442	0.001219339	Enzyme: Hydrolase	BrainSpLMD|112487	
EN-PFC1	C12orf10	0.792171624	0.001247863	Unclassified	BrainSpLMD|60314	OMIM|611366
EN-PFC1	GPD2	0.763897147	0.001251241	Enzyme: Dehydrogenase	BrainSpLMD|2820;Eurexp|euxassay_018668|nucleus pulposus, submandibular gland primordium	SFARI||Autism, No category;OMIM|138430
EN-PFC1	PSMB3	0.264711311	0.001251409	Ubiquitin proteasome system protein	BrainSpLMD|5691;Eurexp|euxassay_003314|dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, incisor, molar, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|602176
EN-PFC1	SLC35A5	0.774175904	0.001266553	Membrane transport protein	BrainSpLMD|55032	
EN-PFC1	SAMD1	0.268777401	0.001279704	Unclassified	BrainSpLMD|90378	
EN-PFC1	PACS1	0.767832276	0.001283856	Adapter molecule	BrainSpLMD|55690;Eurexp|euxassay_007319|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|607492;HPO|55690|Aggressive behavior, Autosomal dominant inheritance, Bulbous nose, Cavum septum pellucidum, Constipation, Cryptorchidism, Delayed speech and language development, Diastema, Downslanted palpebral fissures, Downturned corners of mouth, Feeding difficulties, Generalized hypotonia, Global developmental delay, Highly arched eyebrow, Hypertelorism, Intellectual disability, Long eyelashes, Low anterior hairline, Low-set ears, Macrotia, Myopia, Nystagmus, Pes planus, Ptosis, Seizures, Single umbilical artery, Smooth philtrum, Speech apraxia, Strabismus, Synophrys, Thin upper lip vermilion, Volvulus, Wide intermamillary distance, Wide mouth
EN-PFC1	TTC9	0.364296892	0.001350533	Unclassified		OMIM|610488
EN-PFC1	SNX30	0.466830908	0.00141265	Transport/cargo protein	Eurexp|euxassay_002509|thymus primordium	
EN-PFC1	TVP23C	0.479788431	0.001440138	Integral membrane protein	BrainSpLMD|201158	
EN-PFC1	ATG12	0.251973788	0.001501574	Unclassified	BrainSpLMD|9140;Eurexp|euxassay_005505|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X	OMIM|609608
EN-PFC1	C5orf42	0.250118103	0.001533276	Unclassified	BrainSpLMD|65250	OMIM|614571;HPO|65250|Abnormality of peripheral nerve conduction, Accessory oral frenulum, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Brachydactyly, Broad nasal tip, Central Y-shaped metacarpal, Cerebellar vermis hypoplasia, Cleft palate, Cleft upper lip, Clinodactyly, Conductive hearing impairment, Degeneration of anterior horn cells, Distal upper limb amyotrophy, EMG abnormality, Epicanthus, Episodic tachypnea, Esotropia, Failure to thrive, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, High palate, Hypertelorism, Hyperventilation, Hypothalamic hamartoma, Intellectual disability, Long face, Low-set ears, Mesoaxial hand polydactyly, Micrognathia, Molar tooth sign on MRI, Muscle weakness, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Postaxial polydactyly, Posteriorly rotated ears, Preaxial foot polydactyly, Preaxial hand polydactyly, Radial deviation of finger, Renal agenesis, Renal dysplasia, Short stature, Toe syndactyly, Tongue nodules
EN-PFC1	ATP5F1	0.427453157	0.001534128			
EN-PFC1	MICU3	0.722323631	0.001541793	Unclassified	BrainSpLMD|286097	OMIM|610633
EN-PFC1	PTGFRN	0.422683738	0.001577906	Integral membrane protein	BrainSpLMD|5738;Eurexp|euxassay_007366|axial skeleton, clavicle, floor plate, floorplate, lung, mantle layer, mesenchyme, palatal shelf, penis, sternum, submandibular gland primordium, ventricular layer, vibrissa	OMIM|601204
EN-PFC1	MON2	0.269513105	0.001585511	Unclassified	BrainSpLMD|23041	OMIM|616822
EN-PFC1	NCOA5	0.426176569	0.00159616	Transcription regulatory protein	BrainSpLMD|57727	OMIM|616825
EN-PFC1	CPD	0.29077408	0.001603906	Carboxypeptidase	BrainSpLMD|1362;Eurexp|euxassay_018661|penis, submandibular gland primordium	OMIM|603102
EN-PFC1	TMEM57	0.338839644	0.001613365			
EN-PFC1	TRPC1	0.558704069	0.001642149	Ion channel	BrainSpLMD|7220	OMIM|602343
EN-PFC1	CNIH1	0.537494539	0.001653352	Integral membrane protein	BrainSpLMD|10175	OMIM|611287
EN-PFC1	ACTR3	0.364107277	0.001655542	Cytoskeletal protein	BrainSpLMD|10096	OMIM|604222
EN-PFC1	HN1	0.287533774	0.001668839			
EN-PFC1	SCAMP5	0.836026417	0.001749968	Integral membrane protein	BrainSpLMD|192683	OMIM|613766
EN-PFC1	ZNF32	0.795184377	0.001776985	DNA binding protein;Transcription regulatory protein	BrainSpLMD|7580;Eurexp|euxassay_007349|ventricular layer	OMIM|194539
EN-PFC1	H2AFY2	0.775181401	0.001806515	DNA binding protein	BrainSpLMD|55506	OMIM|616141
EN-PFC1	LMBRD2	0.384868937	0.001859108	Unclassified	Eurexp|euxassay_011394|Meckel's cartilage, facial VII, femur, glossopharyngeal IX, phalanx, tarsus, trigeminal V, vagus X	
EN-PFC1	ZDHHC6	0.573532284	0.001875349	Integral membrane protein	BrainSpLMD|64429	
EN-PFC1	KLHL42	0.478116635	0.001880647	Unclassified	BrainSpLMD|57542;Eurexp|euxassay_013105|olfactory	
EN-PFC1	TRMT61B	0.408358856	0.001887253	Enzyme: Methyltransferase	BrainSpLMD|55006	
EN-PFC1	SORL1	0.371009398	0.001894775	Integral membrane protein	BrainSpLMD|6653;Eurexp|euxassay_012191|bladder, calyces, epithelium, left lung, mantle layer, midgut, olfactory, pelvis, rectum, right lung, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, ureter, ventricular layer;BrainSpMouseDev|20422	OMIM|602005
EN-PFC1	MFHAS1	0.479322106	0.001895843	Unclassified	BrainSpLMD|9258;Eurexp|euxassay_014051|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vibrissa	OMIM|605352
EN-PFC1	STAU2	0.317930892	0.00200598	RNA binding protein	BrainSpLMD|27067;Eurexp|euxassay_011484|cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605920
EN-PFC1	SH3GLB1	0.287953787	0.002011368	Enzyme: Acyltransferase	BrainSpLMD|51100	OMIM|609287
EN-PFC1	C5orf24	0.55680256	0.00204742	Unclassified	BrainSpLMD|134553	
EN-PFC1	HMGN1	0.25737469	0.002059437	Transcription regulatory protein	BrainSpLMD|3150;Eurexp|euxassay_003511|calyces, cochlea, mantle layer, marginal layer, vibrissa;BrainSpMouseDev|15087	SFARI||Autism, 3 - Suggestive evidence;OMIM|163920
EN-PFC1	ATP6V0A1	0.350087464	0.00207856	Ion channel	BrainSpLMD|535	OMIM|192130
EN-PFC1	TLE1	0.264480333	0.002097823	Transcription regulatory protein	BrainSpLMD|7088;Eurexp|euxassay_017921|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, pituitary, stroma, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|21644	OMIM|600189
EN-PFC1	S100PBP	0.475717405	0.002200217	Unclassified	BrainSpLMD|64766	OMIM|611889
EN-PFC1	ZNF605	0.809595668	0.002205074			
EN-PFC1	ABHD2	0.498644703	0.002212034	Enzyme: Hydrolase	BrainSpLMD|11057;Eurexp|euxassay_002585|adrenal gland, choroid plexus, cochlea, dorsal root ganglion, lateral recess, lung, naris, neural retina, olfactory, penis, respiratory, stomach, stroma, submandibular gland primordium, trigeminal V, vestibulocochlear VIII	OMIM|612196
EN-PFC1	ADIPOR1	0.489779591	0.002230301	Integral membrane protein	BrainSpLMD|51094	OMIM|607945
EN-PFC1	FAM107B	0.319840693	0.002258273	Unclassified	BrainSpLMD|83641;Eurexp|euxassay_000675|thymus primordium	
EN-PFC1	FAM134B	0.500962677	0.00227784			
EN-PFC1	THRA	0.360019767	0.002294209	Nuclear receptor	BrainSpLMD|7067;BrainSpMouseDev|21592	SFARI||Autism, No category;OMIM|190120;HPO|7067|Abdominal distention, Anemia, Autosomal dominant inheritance, Coarse facial features, Congenital hip dislocation, Congenital hypothyroidism, Constipation, Delayed eruption of teeth, Delayed skeletal maturation, Drowsiness, Dry skin, Feeding difficulties, Growth delay, Hypertelorism, Hypothyroidism, Increased T3/T4 ratio, Increased body weight, Jaundice, Large fontanelles, Macroglossia, Muscular hypotonia, Omphalocele, Relative macrocephaly, Sleep disturbance, Thyroid hormone receptor defect, Umbilical hernia
EN-PFC1	ACOT7	0.46522532	0.002350702	Enzyme: Hydrolase	BrainSpLMD|11332;Eurexp|euxassay_011287|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, molar, neural retina, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|602587
EN-PFC1	SLC25A12	0.851570362	0.00237409	Transport/cargo protein	BrainSpLMD|8604	SFARI||Autism, 4 - Minimal evidence;OMIM|603667;HPO|8604|Absent speech, Autosomal recessive inheritance, Cerebral hypomyelination, Epileptic encephalopathy, Global developmental delay, Hyperreflexia, Infantile onset, Poor eye contact, Seizures, Severe muscular hypotonia, Spasticity
EN-PFC1	DYNC1LI1	0.348894164	0.002379842	Motor protein	BrainSpLMD|51143	OMIM|615890
EN-PFC1	SETD1B	0.439635175	0.002383197	Unclassified		OMIM|611055
EN-PFC1	ZNF706	0.616129318	0.002383322	DNA binding protein	BrainSpLMD|51123	
EN-PFC1	FBXO3	0.329912459	0.002398333	Ubiquitin proteasome system protein	BrainSpLMD|26273	OMIM|609089
EN-PFC1	RNF157	0.266430258	0.002408718	Ubiquitin proteasome system protein		
EN-PFC1	LATS1	0.334357225	0.002414953	Serine/threonine kinase	BrainSpLMD|9113	OMIM|603473
EN-PFC1	MITD1	0.41014959	0.002470329	Unclassified	BrainSpLMD|129531	
EN-PFC1	CLIP1	0.362421586	0.002509007	Structural protein	BrainSpLMD|6249	OMIM|179838;COSMIC||Spitzoid tumour
EN-PFC1	NEO1	0.311691181	0.002535841	Cell surface receptor	BrainSpLMD|4756;Eurexp|euxassay_018461|axial skeleton, diaphragm, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lung, mandible, mantle layer, marginal layer, maxilla, nasal septum, pericardial cavity, turbinate bones, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|17774	SFARI||Autism, 4 - Minimal evidence;OMIM|601907
EN-PFC1	MAST2	0.313096966	0.002629501	Serine/threonine kinase	BrainSpLMD|23139	OMIM|612257
EN-PFC1	DMXL2	0.362734116	0.002653623	Structural protein	BrainSpLMD|23312;Eurexp|euxassay_011776|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|612186;HPO|23312|Ataxia, Autosomal recessive inheritance, Central hypothyroidism, Dysarthria, Dystonia, Intellectual disability, Intellectual disability, moderate, Motor delay, Postnatal growth retardation, Progressive hearing impairment, Short stature
EN-PFC1	EPS15	0.583621431	0.002680477	Calcium binding protein	BrainSpLMD|2060;Eurexp|euxassay_005655|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|600051;COSMIC||ALL
EN-PFC1	NBR1	0.509817644	0.002691815	Unclassified	BrainSpLMD|4077	OMIM|166945
EN-PFC1	VTI1B	0.677824423	0.002702642	Unclassified	BrainSpLMD|10490;Eurexp|euxassay_009816|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	OMIM|603207
EN-PFC1	DHX57	0.296764208	0.002708089	Unclassified	BrainSpLMD|90957	
EN-PFC1	SBDSP1	0.575633326	0.002721546			
EN-PFC1	BRPF3	0.312019909	0.002724046	DNA binding protein	Eurexp|euxassay_014369|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, brain, clavicle, femur, fibula, humerus, hyoid bone, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rest of mesenchyme, rib, scapula, spinal cord, tibia, turbinate bones;BrainSpMouseDev|92623	OMIM|616856
EN-PFC1	SNX4	0.458477634	0.00272987	Transport/cargo protein	BrainSpLMD|8723	OMIM|605931
EN-PFC1	OSBPL1A	0.428637917	0.002738424	Transport/cargo protein	BrainSpLMD|114876	OMIM|606730
EN-PFC1	LINC00641	1.133473784	0.002811454			
EN-PFC1	AP1AR	0.49605487	0.002833675	Unclassified	BrainSpLMD|55435	OMIM|610851
EN-PFC1	CTC.444N24.11	0.462100419	0.002848248			
EN-PFC1	SNAPC3	0.362892029	0.00286273	Transcription factor	BrainSpLMD|6619;Eurexp|euxassay_009132|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602348
EN-PFC1	FGFR1OP2	0.597862351	0.002945556	Unclassified	BrainSpLMD|26127;Eurexp|euxassay_012453|thymus primordium	OMIM|608858
EN-PFC1	AP2A1	0.724177575	0.003011647	Transport/cargo protein	BrainSpLMD|160;Eurexp|euxassay_012511|dorsal root ganglion, facial VII, glossopharyngeal IX, liver, trigeminal V, vagus X	OMIM|601026
EN-PFC1	COA3	0.428805202	0.003016369	Unclassified	BrainSpLMD|28958	OMIM|614775
EN-PFC1	USP32	0.502723841	0.003043218	Ubiquitin proteasome system protein	BrainSpLMD|84669;Eurexp|euxassay_016000|choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607740
EN-PFC1	KCNMB4	0.353266054	0.00308058	Transport/cargo protein	BrainSpLMD|27345;Eurexp|euxassay_008263|anterior, dorsal root ganglion, external, facial VII, glossopharyngeal IX, incisor, mantle layer, molar, phalanx, tarsus, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|37365	OMIM|605223
EN-PFC1	STARD7	0.339450008	0.00308527	Unclassified	BrainSpLMD|56910	OMIM|616712
EN-PFC1	C10orf32	0.259485252	0.003110108			
EN-PFC1	IFT22	0.371637373	0.003223545	GTPase	BrainSpLMD|64792	
EN-PFC1	SUPT20H	0.478949225	0.003271811	Transcription regulatory protein	BrainSpLMD|55578;Eurexp|euxassay_002226|foregut-midgut junction, hindgut, midgut, rectum, stomach	OMIM|613417
EN-PFC1	TMEM66	0.49907438	0.003284895			
EN-PFC1	KLHL2	0.308701593	0.003293509	Cytoskeletal associated protein	BrainSpLMD|11275	OMIM|605774
EN-PFC1	NVL	0.380783184	0.003321006	ATPase	BrainSpLMD|4931	OMIM|602426
EN-PFC1	FIP1L1	0.317307178	0.003389483	Unclassified		OMIM|607686;COSMIC||idiopathic hypereosinophilic syndrome
EN-PFC1	STAG3L1	0.413960347	0.003392579	Unclassified		
EN-PFC1	MTCH2	0.46993331	0.003448933	Unclassified	BrainSpLMD|23788;Eurexp|euxassay_002498|axial muscle, dorsal root ganglion, mantle layer, orbito-sphenoid, trigeminal V	OMIM|613221
EN-PFC1	SCYL2	0.305648097	0.003453957	Serine/threonine kinase	BrainSpLMD|55681	OMIM|616365
EN-PFC1	NDUFS1	0.386940429	0.003472074	Enzyme: Oxidoreductase	BrainSpLMD|4719;Eurexp|euxassay_018914|dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, liver, mandible, mantle layer, maxilla, midgut, molar, neural retina, orbito-sphenoid, pancreas, stomach, submandibular gland primordium, testis, thymus primordium, trigeminal V, ventral grey horn, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|157655;HPO|4719|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
EN-PFC1	SCOC	0.418948571	0.003495941	Unclassified	BrainSpLMD|60592;Eurexp|euxassay_002885|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X	
EN-PFC1	PNMA1	0.424708065	0.003562735	Unclassified	BrainSpLMD|9240	OMIM|604010
EN-PFC1	LRRC37BP1	0.880547207	0.003596772		BrainSpLMD|147172	
EN-PFC1	ZNF493	0.643616692	0.003616938	DNA binding protein	BrainSpLMD|284443	
EN-PFC1	UBE2QL1	0.672266319	0.00373649		Eurexp|euxassay_007895|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, spinal cord, telencephalon, trigeminal V	OMIM|615832
EN-PFC1	MPC2	0.298643958	0.003806343	Unclassified	BrainSpLMD|25874	OMIM|614737
EN-PFC1	FRA10AC1	0.435036194	0.003916232	Unclassified	BrainSpLMD|118924	OMIM|608866
EN-PFC1	LMTK2	0.502897296	0.003953768	Dual specificity kinase	BrainSpLMD|22853;Eurexp|euxassay_018856|marginal layer, pancreas;BrainSpMouseDev|87332	OMIM|610989
EN-PFC1	PAK1IP1	0.265647709	0.00398916	Cytoskeletal associated protein	BrainSpLMD|55003;Eurexp|euxassay_000585|chondrocranium, lobe	OMIM|607811
EN-PFC1	DMAP1	0.943533699	0.004019807	Transcription regulatory protein	BrainSpLMD|55929	OMIM|605077
EN-PFC1	AZIN1	0.2889732	0.004038677	Unclassified	BrainSpLMD|51582	OMIM|607909
EN-PFC1	FAM172A	0.4182631	0.004046842	Unclassified	BrainSpLMD|83989;Eurexp|euxassay_010283|ventricular layer	
EN-PFC1	LPGAT1	0.423738253	0.00409092	Enzyme: Acyltransferase	BrainSpLMD|9926	OMIM|610473
EN-PFC1	TMEM150C	0.372119624	0.004092947	Unclassified	Eurexp|euxassay_005300|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, rib, thalamus, trigeminal V, ventral grey horn	OMIM|617292
EN-PFC1	TMX3	0.300205312	0.004124825	Enzyme: Oxidoreductase	BrainSpLMD|54495	OMIM|616102
EN-PFC1	ATP6V1H	0.414215978	0.004195969	ATPase	BrainSpLMD|51606;Eurexp|euxassay_000538|brain, central nervous system, ganglion, nerve, spinal cord	OMIM|608861
EN-PFC1	ACVR1B	0.592447131	0.004306429	Receptor serine/threonine kinase	BrainSpLMD|91;Eurexp|euxassay_007715|anterior, brain, dorsal root ganglion, external, facial VII, glossopharyngeal IX, incisor, midgut, molar, neural retina, oesophagus, olfactory, rectum, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|11267	OMIM|601300
EN-PFC1	DLGAP1.AS5	0.377388093	0.004382321			
EN-PFC1	BTF3L4P2	0.274986829	0.00439656			
EN-PFC1	BRD7	0.365404501	0.004412374	Transcription factor		
EN-PFC1	PPM1A	0.419892388	0.004414476	Serine/threonine phosphatase	BrainSpLMD|5494;Eurexp|euxassay_003492|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, testis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|606108
EN-PFC1	DCAKD	0.96856215	0.00447639	Enzyme: Phosphorylase	BrainSpLMD|79877	
EN-PFC1	EML4	0.584586009	0.00460218	Structural protein	BrainSpLMD|27436	OMIM|607442;COSMIC||NSCLC
EN-PFC1	SLC25A4	0.42951165	0.004664502	Transport/cargo protein	BrainSpLMD|291	OMIM|103220;HPO|291|Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Congenital onset, Cytochrome C oxidase-negative muscle fibers, EMG: myopathic abnormalities, Exercise intolerance, Facial palsy, Generalized hypotonia, Generalized muscle weakness, Heterogeneous, Hypertrophic cardiomyopathy, Hyporeflexia, Lactic acidosis, Multiple mitochondrial DNA deletions, Myalgia, Myopathy, Myopia, Nystagmus, Progressive, Progressive external ophthalmoplegia, Ptosis, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Slow progression, Strabismus, Subsarcolemmal accumulations of abnormally shaped mitochondria
EN-PFC1	ZBTB25	0.319865261	0.004746824	DNA binding protein	BrainSpLMD|7597	OMIM|194541
EN-PFC1	IWS1	0.467296566	0.004763037	Unclassified	BrainSpLMD|55677	
EN-PFC1	AP1M1	0.457161525	0.004771775	Adapter molecule	BrainSpLMD|8907	OMIM|603535
EN-PFC1	RYBP	0.266580839	0.004873283	Transcription regulatory protein	BrainSpLMD|23429;Eurexp|euxassay_019658|mantle layer, olfactory, vibrissa, vomeronasal organ;BrainSpMouseDev|35633	OMIM|607535
EN-PFC1	WDR3	0.293622759	0.004930719	Unclassified	BrainSpLMD|10885	OMIM|604737
EN-PFC1	ZFAND6	0.440332298	0.004964712	Adapter molecule	BrainSpLMD|54469	OMIM|610183
EN-PFC1	RNF138	0.313642107	0.005043155	Ubiquitin proteasome system protein	BrainSpLMD|51444;Eurexp|euxassay_008413|brain, facial VII, glossopharyngeal IX, incisor, left lung, metanephros, molar, naris, olfactory, pancreas, peripheral nervous system, pharyngo-tympanic tube, primitive seminiferous tubules, retina, right lung, spinal cord, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|616319
EN-PFC1	TRAP1	0.563363192	0.005069378	Heat shock protein	BrainSpLMD|10131	OMIM|606219
EN-PFC1	ESF1	0.26576067	0.005069538	Unclassified	BrainSpLMD|51575	
EN-PFC1	RNF41	0.847561068	0.005133227	Ubiquitin proteasome system protein	BrainSpLMD|10193	
EN-PFC1	C11orf95	0.374752107	0.00515048			OMIM|615699
EN-PFC1	DCTN5	0.318203885	0.005206919	Unclassified	BrainSpLMD|84516;Eurexp|euxassay_005044|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, trigeminal V	SFARI||Autism, 5 - Hypothesized but untested;OMIM|612962
EN-PFC1	SNCA	0.567915279	0.005271144	Chaperone	BrainSpLMD|6622;BrainSpMouseDev|20379	OMIM|163890;HPO|6622|Autosomal dominant inheritance, Bradykinesia, Delusions, Dementia, Depressivity, Dysarthria, Dysautonomia, Dysphagia, Dystonia, Fluctuations in consciousness, Hallucinations, Hypokinesia, Insidious onset, Lewy bodies, Mental deterioration, Middle age onset, Myoclonus, Orthostatic hypotension, Paranoia, Parkinsonism, Postural instability, Progressive, Rapidly progressive, Resting tremor, Rigidity, Shuffling gait, Sleep disturbance, Urinary urgency, Visual hallucinations, Weight loss
EN-PFC1	KIAA0247	0.397211991	0.005279802			
EN-PFC1	RAB18	0.356681907	0.005289199	GTPase	BrainSpLMD|22931	OMIM|602207;HPO|22931|Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Ankle clonus, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Blepharophimosis, Brachycephaly, Cataract, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Clitoral hypoplasia, Congenital cataract, Cortical visual impairment, Cryptorchidism, Decreased testicular size, Delayed puberty, Downturned corners of mouth, Flexion contracture, Generalized hirsutism, Global developmental delay, High palate, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplastic labia minora, Intellectual disability, profound, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphoscoliosis, Kyphosis, Lissencephaly, Low anterior hairline, Low-set, posteriorly rotated ears, Macrotia, Microcephaly, Microcornea, Micrognathia, Micropenis, Microphthalmia, Muscular hypotonia, Muscular hypotonia of the trunk, Narrow palate, Nystagmus, Optic atrophy, Pachygyria, Polymicrogyria, Postnatal growth retardation, Postnatal microcephaly, Scoliosis, Scrotal hypoplasia, Seizures, Shallow anterior chamber, Short nose, Short philtrum, Short stature, Spastic tetraplegia, Spasticity, Ventriculomegaly, Wide nasal bridge
EN-PFC1	VPS37A	0.571986728	0.005292127	Growth inhibitory factor	BrainSpLMD|137492	OMIM|609927;HPO|137492|Autosomal recessive inheritance, Clonus, Cognitive impairment, Delayed speech and language development, Gait disturbance, Global developmental delay, Hypertrichosis, Kyphosis, Spastic paraplegia
EN-PFC1	AC007238.1	0.792092456	0.005476736			
EN-PFC1	RP11.127B20.2	0.511752083	0.005491581			
EN-PFC1	UBFD1	0.676853287	0.005491986	Unclassified	BrainSpLMD|56061	
EN-PFC1	ME2	0.332057009	0.005559657	Enzyme: Decarboxylase	BrainSpLMD|4200;Eurexp|euxassay_000082|clavicle, dorsal root ganglion, frontal bone primordium, mandible, nucleus pulposus, physiological umbilical hernia, rib, skeleton, thymus primordium, tooth, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|154270
EN-PFC1	TRIM37	0.41888264	0.005588524	Ubiquitin proteasome system protein	BrainSpLMD|4591	OMIM|605073;HPO|4591|Absent frontal sinuses, Astigmatism, Autosomal recessive inheritance, Cachexia, Congestive heart failure, Dental crowding, Depressed nasal bridge, Dolichocephaly, Dysarthria, Frontal bossing, Hepatomegaly, High pitched voice, Hypertelorism, Hypodontia, Hypoplastic frontal sinuses, Intrauterine growth retardation, J-shaped sella turcica, Macrocephaly, Microglossia, Muscular hypotonia, Myocardial fibrosis, Nephroblastoma, Nevus, Pericardial constriction, Pigmentary retinopathy, Reduced tendon reflexes, Short stature, Strabismus, Triangular face, Ventriculomegaly, Weak voice, Wide nasal bridge
EN-PFC1	FBXO11	0.454780346	0.005601614	Ubiquitin proteasome system protein	BrainSpLMD|80204	OMIM|607871;COSMIC||DLBCL
EN-PFC1	RP9	0.72549055	0.005765408	Unclassified	BrainSpLMD|6100	OMIM|607331;HPO|6100|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Undetectable light- and dark-adapted electroretinogram, Wide nasal bridge
EN-PFC1	DPP6	0.280426176	0.005766877	Membrane transport protein	BrainSpLMD|1804;Eurexp|euxassay_004610|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, intervertebral disc, neural retina, olfactory, pelvis, spinal cord, stroma, trigeminal V, vagus X, vertebral cartilage condensation, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|126141;HPO|1804|Alternating esotropia, Amblyopia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Chorioretinal degeneration, Decreased body weight, Delayed skeletal maturation, Intellectual disability, Microcephaly, Reduced number of teeth, Scoliosis, Short stature
EN-PFC1	ACAP3	0.655835609	0.005803392	Unclassified	BrainSpLMD|116983	
EN-PFC1	RAB30	0.397266793	0.00581496	GTPase	BrainSpLMD|27314;Eurexp|euxassay_002971|basal plate, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|605693
EN-PFC1	WSB2	0.317159178	0.006306627	Ubiquitin proteasome system protein	BrainSpLMD|55884;Eurexp|euxassay_015363|brain, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vestibulocochlear VIII	
EN-PFC1	UBA3	0.372879952	0.006385706	Ubiquitin proteasome system protein	BrainSpLMD|9039	OMIM|603172
EN-PFC1	CISD1	0.27788896	0.006461098	Unclassified	BrainSpLMD|55847;Eurexp|euxassay_003163|chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, lobe, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611932
EN-PFC1	PSMD7	0.347247	0.006465036	Ubiquitin proteasome system protein	BrainSpLMD|5713	OMIM|157970
EN-PFC1	LINC01278	0.285523185	0.006654547			
EN-PFC1	PGRMC1	0.39299753	0.00669961	Cell surface receptor	BrainSpLMD|10857;Eurexp|euxassay_018260|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X	OMIM|300435
EN-PFC1	AKAP8L	0.578329401	0.006727774	DNA binding protein	BrainSpLMD|26993	OMIM|609475
EN-PFC1	SEL1L	0.702821692	0.006896722	Integral membrane protein	BrainSpLMD|6400;BrainSpMouseDev|20101	OMIM|602329
EN-PFC1	TSPAN13	0.457043205	0.006971786	Integral membrane protein	BrainSpLMD|27075;Eurexp|euxassay_003891|brain, cervical, cervico-thoracic, dorsal root ganglion, ductus deferens, facial VII, fundus region, glossopharyngeal IX, left lung, neural retina, olfactory, physiological umbilical hernia, rectum, right lung, spinal cord, stomach, thoracic, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII	OMIM|613139
EN-PFC1	ENTPD1.AS1	0.390663873	0.006988119			
EN-PFC1	GOLT1B	0.512196736	0.007071559	Unclassified	BrainSpLMD|51026;Eurexp|euxassay_004588|orbito-sphenoid	OMIM|615078
EN-PFC1	AIG1	0.772934139	0.007322153	Integral membrane protein	BrainSpLMD|51390	OMIM|608514
EN-PFC1	PI4KAP1	0.317084183	0.007325087			
EN-PFC1	MAN2A1	0.523963938	0.007420912	Enzyme: Glycosidase	BrainSpLMD|4124	OMIM|154582
EN-PFC1	ACACA	0.28471155	0.00747148	Enzyme: Carboxylase	BrainSpLMD|31;Eurexp|euxassay_018925|axial muscle, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mantle layer, midgut, neural retina, oesophagus, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|200350;HPO|31|Autosomal recessive inheritance, Generalized hypotonia, Growth delay, Myopathy
EN-PFC1	KIAA1143	0.44841233	0.007600646	Unclassified		
EN-PFC1	UFM1	0.400185968	0.007825479	Unclassified	BrainSpLMD|51569	OMIM|610553
EN-PFC1	EIF3F	0.262861585	0.007846337	Translation regulatory protein		OMIM|603914
EN-PFC1	RAB11FIP4	0.670443381	0.007904844	Membrane transport protein	BrainSpLMD|84440;Eurexp|euxassay_009634|Meckel's cartilage, axial skeleton, basisphenoid bone, clavicle, cricoid, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, forebrain, glossopharyngeal IX, hindbrain, hip, humerus, mandible, metatarsus, midbrain, nasal septum, neural retina, orbito-sphenoid, otic capsule, petrous part, radius, rib, scapula, spinal cord, tarsus, thymus primordium, thyroid, tibia, trigeminal V, turbinate, vagus X	OMIM|611999
EN-PFC1	GRINA	0.741494197	0.008132021	Integral membrane protein	BrainSpLMD|2907	OMIM|138251
EN-PFC1	TRAPPC6B	0.595901487	0.00840434	Unclassified	BrainSpLMD|122553;Eurexp|euxassay_006829|cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|610397
EN-PFC1	VPS26A	0.464052159	0.008404948	Transport/cargo protein	BrainSpLMD|9559	OMIM|605506
EN-PFC1	KIAA1468	0.308063094	0.008526043	Unclassified	BrainSpLMD|57614;Eurexp|euxassay_002376|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	
EN-PFC1	MRS2	0.28615109	0.008672115	Integral membrane protein	BrainSpLMD|57380	
EN-PFC1	POT1.AS1	0.497746461	0.008688572			
EN-PFC1	HSF2	0.294249557	0.008745875	Heat shock protein	BrainSpLMD|3298	OMIM|140581
EN-PFC1	CRK	0.300623871	0.008771661	Adapter molecule	BrainSpLMD|1398	OMIM|164762
EN-PFC1	CCT6P3	0.59273056	0.008850153			
EN-PFC1	EIF2B3	0.348577349	0.009828499	Translation regulatory protein	BrainSpLMD|8891	OMIM|606273;HPO|8891|Autosomal recessive inheritance, CNS demyelination, Cerebral hypomyelination, Cessation of head growth, Decreased circulating progesterone, Delusions, Developmental regression, Dysarthria, Emotional lability, Generalized hypotonia, Juvenile onset, Lethargy, Leukoencephalopathy, Macrocephaly, Memory impairment, Optic atrophy, Personality changes, Premature ovarian insufficiency, Primary gonadal insufficiency, Secondary amenorrhea, Seizures, Spasticity, Unsteady gait
EN-PFC1	KIAA0907	0.62028478	0.009841326			
EN-PFC1	ATP6V1D	0.302717441	0.009889621	ATPase	BrainSpLMD|51382;Eurexp|euxassay_003760|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, stroma, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|609398
nEN-early2	KIAA1324	1.866594006	0	Unclassified	BrainSpLMD|57535	OMIM|611298
nEN-early2	HS3ST1	1.695527404	0	Enzyme: Sulphotransferase	BrainSpLMD|9957;Eurexp|euxassay_011898|Meckel's cartilage, femur, fibula, hip, humerus, mantle layer, mesenchyme, metatarsus, rib, scapula, submandibular gland primordium, tibia, ventricular layer	OMIM|603244
nEN-early2	NRP1	1.622561863	0	Cell surface receptor	BrainSpLMD|8829;BrainSpMouseDev|17953	OMIM|602069
nEN-early2	EML6	1.604616378	0	Unclassified	Eurexp|euxassay_002686|cervical, cervico-thoracic, diencephalon, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, olfactory, stroma, thoracic, trigeminal V, ventral grey horn	
nEN-early2	PRSS12	1.555528188	0	Serine protease	BrainSpLMD|8492;Eurexp|euxassay_015396|head mesenchyme, lower jaw, molar, nasal capsule, upper jaw;BrainSpMouseDev|18905	OMIM|606709;HPO|8492|Autosomal recessive inheritance, Babinski sign, Hyperactive deep tendon reflexes, Intellectual disability, Nystagmus, Strabismus
nEN-early2	ADRA2A	1.511351344	0	G protein coupled receptor	BrainSpLMD|150;Eurexp|euxassay_010849|basisphenoid bone, mantle layer, marginal layer, naris, nasal capsule, olfactory, ventral grey horn;BrainSpMouseDev|11338	OMIM|104210
nEN-early2	SLA	1.487702778	0	Adapter molecule	BrainSpLMD|6503	OMIM|601099
nEN-early2	DPY19L1	1.466611089	0	Unclassified		OMIM|613892
nEN-early2	SLC17A6	1.449714897	0	Membrane transport protein	BrainSpLMD|57084;Eurexp|euxassay_004371|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, mesenchyme, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|80230	OMIM|607563
nEN-early2	UNC5D	1.421728135	0	Unclassified	BrainSpLMD|137970;Eurexp|euxassay_012466|basal plate, clavicle, incisor, lip, mantle layer, molar, palatal shelf, respiratory, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|84240	OMIM|616466
nEN-early2	CNTN2	1.420878157	0	Adhesion molecule	BrainSpLMD|6900;Eurexp|euxassay_000546|alar columns, dorsal root ganglion, epithalamic recess, glossopharyngeal IX, hypothalamus, lateral wall, mantle layer, marginal layer, neural retina, spinal cord, thalamus, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|21128	OMIM|190197;HPO|6900|Autosomal recessive inheritance, EEG abnormality, Focal seizures, Generalized seizures, Generalized tonic-clonic seizures, Hand tremor, Myoclonus, Seizures, Tremor
nEN-early2	SEMA3C	1.371159289	0	Ligand	BrainSpLMD|10512;BrainSpMouseDev|20111	OMIM|602645;HPO|10512|Abdominal pain, Aganglionic megacolon, Constipation, Intestinal obstruction, Nausea and vomiting, Weight loss
nEN-early2	PALMD	1.357959303	0	Unclassified	BrainSpLMD|54873	OMIM|610182
nEN-early2	RBFOX1	1.292544364	0		BrainSpLMD|54715;Eurexp|euxassay_013824|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, thoracic, trigeminal V	SFARI||Autism, 3 - Suggestive evidence;OMIM|605104
nEN-early2	KCNQ3	1.287085103	0	Voltage gated channel	BrainSpLMD|3786;Eurexp|euxassay_008387|mantle layer, marginal layer, midgut, rib, ventral grey horn;BrainSpMouseDev|75016	SFARI||Autism, 3 - Suggestive evidence;OMIM|602232;HPO|3786|Abnormality of vision, Autosomal dominant inheritance, Choreoathetosis, Deeply set eye, Dysesthesia, Dyskinesia, Focal clonic seizures, Generalized tonic-clonic seizures, Hypertonia, Muscular hypotonia, Myoclonus, Reduced consciousness/confusion, Seizures
nEN-early2	SCRT2	1.265691327	0	Transcription regulatory protein	BrainSpLMD|85508;Eurexp|euxassay_016519|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, ventricular layer, vestibulocochlear VIII	
nEN-early2	RNU6.457P	1.240254098	0			
nEN-early2	TTC28	1.234614296	0	Unclassified	BrainSpLMD|23331	OMIM|615098
nEN-early2	RBFOX3	1.229333108	0			OMIM|616999
nEN-early2	CLMP	1.228152638	0		BrainSpLMD|79827;Eurexp|euxassay_001798|mantle layer, marginal layer	OMIM|611693;HPO|79827|Abnormal peristalsis, Autosomal recessive inheritance, Chronic diarrhea, Cognitive impairment, Congenital shortened small intestine, Decreased intestinal transit time, Failure to thrive, Hypotrichosis, Intestinal hypoplasia, Intestinal malrotation, Lipoatrophy, Short stature, Steatorrhea
nEN-early2	SORBS2	1.222526687	0	Adapter molecule	BrainSpLMD|8470;Eurexp|euxassay_012430|axial skeleton, cochlea, excretory component, exoccipital bone, mantle layer, metatarsus, nasal septum, otic capsule, petrous part, phalanx, skeletal muscle, submandibular gland primordium, tarsus, thyroid, turbinate, ventricle, ventricular layer	OMIM|616349
nEN-early2	ST8SIA1	1.210142897	0	Enzyme: Sialyltransferase	BrainSpLMD|6489;Eurexp|euxassay_000637|dorsal root ganglion, inferior, superior, trigeminal V, vagus X	OMIM|601123
nEN-early2	EPHB6	1.153972276	0	Receptor tyrosine kinase	BrainSpLMD|2051;Eurexp|euxassay_018946|calyces, diaphragm, incisor, mantle layer, molar, pericardial cavity, peritoneal cavity, pleural cavity, vibrissa;BrainSpMouseDev|13626	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602757
nEN-early2	PDE1C	1.147665062	0	Enzyme: Phosphodiesterase	BrainSpLMD|5137;BrainSpMouseDev|18341	SFARI||Autism, No category;OMIM|602987
nEN-early2	PPP2R2B	1.146708787	0	Regulatory/other subunit;Serine/threonine phosphatase	BrainSpLMD|5521;Eurexp|euxassay_007301|Meckel's cartilage, brain, eyelid, facial VII, glossopharyngeal IX, inner ear, left lung, neural retina, orbito-sphenoid, right lung, skeletal muscle, spinal cord, tongue, trigeminal V, turbinate, vagus X, vestibulocochlear VIII	OMIM|604325;HPO|5521|Abnormality of eye movement, Action tremor, Anxiety, Autosomal dominant inheritance, Axial dystonia, Cerebellar atrophy, Cerebral cortical atrophy, Delusions, Dementia, Depressivity, Dysarthria, Dysdiadochokinesis, Dysmetria, Facial myokymia, Head tremor, Hyperreflexia, Parkinsonism, Progressive cerebellar ataxia, Sensorimotor neuropathy
nEN-early2	NEUROD2	1.142910962	0	Transcription factor	BrainSpLMD|4761;Eurexp|euxassay_013855|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|17780	OMIM|601725
nEN-early2	PRDM8	1.137132999	0	Unclassified	BrainSpLMD|56978;Eurexp|euxassay_003278|diencephalon, dorsal root ganglion, hindbrain, midbrain, spinal cord, telencephalon, trigeminal V	OMIM|616639;HPO|56978|Autosomal recessive inheritance, Dementia, Dysarthria, Generalized myoclonic seizures, Hallucinations, Hyperreflexia, Lafora bodies, Mutism, Myoclonus, Paranoia, Progressive, Progressive cerebellar ataxia, Psychosis, Spastic ataxia, Spastic tetraplegia, Urinary incontinence, Variable expressivity
nEN-early2	RNF182	1.132092982	0	Ubiquitin proteasome system protein	BrainSpLMD|221687;Eurexp|euxassay_012952|mantle layer, marginal layer, olfactory	
nEN-early2	MLLT3	1.124586979	0	Unclassified	BrainSpLMD|4300;Eurexp|euxassay_008130|adrenal gland, brain, ear, epithelium, hindgut, incisor, inner ear, lobe, metatarsus, molar, penis, rectum, rib, spinal cord, submandibular gland primordium, vibrissa	OMIM|159558;COSMIC||ALL
nEN-early2	SORL1	1.11724919	0	Integral membrane protein	BrainSpLMD|6653;Eurexp|euxassay_012191|bladder, calyces, epithelium, left lung, mantle layer, midgut, olfactory, pelvis, rectum, right lung, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, ureter, ventricular layer;BrainSpMouseDev|20422	OMIM|602005
nEN-early2	DOPEY2	1.104357918	0	Unclassified	BrainSpLMD|9980	OMIM|604803
nEN-early2	NKAIN1	1.102326073	0	Integral membrane protein	BrainSpLMD|79570	OMIM|612871
nEN-early2	TENM4	1.085951058	0	Cell surface receptor		OMIM|610084;HPO|26011|Age-dependent penetrance, Autosomal dominant inheritance, Intention tremor, Postural tremor, Slow progression, Variable expressivity
nEN-early2	NEUROD6	1.079499149	0	Transcription factor	BrainSpLMD|63974;Eurexp|euxassay_017889|inner ear, mantle layer, olfactory, olfactory lobe;BrainSpMouseDev|11708	OMIM|611513
nEN-early2	CDH4	1.067473086	0	Adhesion molecule	BrainSpLMD|1002;BrainSpMouseDev|12346	OMIM|603006
nEN-early2	NFASC	1.060828095	0	Adhesion molecule	BrainSpLMD|23114;Eurexp|euxassay_009740|brain, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|92672	OMIM|609145
nEN-early2	RASGEF1B	1.057871171	0	Guanine nucleotide exchange factor	BrainSpLMD|153020;Eurexp|euxassay_003547|basal plate, mantle layer, marginal layer, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|614532
nEN-early2	EPHA3	1.040014959	0	Receptor tyrosine kinase	BrainSpLMD|2042;Eurexp|euxassay_018957|axial muscle, clavicle, cranial muscle, extrinsic ocular muscle, floorplate, head mesenchyme, incisor, lip, lung, mantle layer, marginal layer, mesenchyme, molar, naris, palatal shelf, pectoral girdle and thoracic body wall, skeletal muscle, tarsus, thymus primordium, tongue, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|13615	OMIM|179611;COSMIC||lung cancer, CRC, melanoma
nEN-early2	RP11.121G22.3	1.031913523	0			
nEN-early2	ST6GAL2	1.029545906	0	Enzyme: Sialyltransferase	BrainSpLMD|84620	OMIM|608472
nEN-early2	RAB12	1.021798622	0	G protein		OMIM|616448
nEN-early2	SEZ6	1.014153143	0	Integral membrane protein	BrainSpLMD|124925	OMIM|616666
nEN-early2	SRGAP1	1.013380222	0	GTPase activating protein	BrainSpLMD|57522	OMIM|606523
nEN-early2	PLXNA2	0.993310866	0	Cell surface receptor	BrainSpLMD|5362;Eurexp|euxassay_010018|brain, spinal cord;BrainSpMouseDev|18609	OMIM|601054
nEN-early2	RP11.436D23.1	0.989839103	0			
nEN-early2	LRP8	0.984137706	0	Cell surface receptor	BrainSpLMD|7804;BrainSpMouseDev|16745	OMIM|602600
nEN-early2	PTCHD2	0.982785531	0			
nEN-early2	SORBS1	0.98101597	0	Cell junction protein	BrainSpLMD|10580;Eurexp|euxassay_003610|axial skeleton, basisphenoid bone, bladder, brain, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, heart, hindlimb, incisor, lens, liver, lung, metanephros, midgut, nasal septum, oesophagus, olfactory, orbito-sphenoid, otic capsule, respiratory, retina, rib, spinal cord, sternum, stomach, tongue, trachea, trigeminal V, vagus X, vertebra, vertebral cartilage condensation, vestibulocochlear VIII;BrainSpMouseDev|20174	OMIM|605264
nEN-early2	ISLR2	0.978756222	0	Unclassified	BrainSpLMD|57611	OMIM|614179
nEN-early2	TBR1	0.974288054	0	Transcription factor	BrainSpLMD|10716;BrainSpMouseDev|21136	SFARI||Autism, 1 - High confidence;OMIM|604616;HPO|10716|Abnormality of oral frenula, Abnormality of the iris, Autistic behavior, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Cataract, Cleft palate, Coloboma, Downslanted palpebral fissures, Failure to thrive, Growth delay, Hand clenching, Hypertelorism, Intellectual disability, Long fingers, Low-set, posteriorly rotated ears, Microphthalmia, Neonatal hypotonia, Seizures, Severe global developmental delay, Short neck, Short philtrum, Small face, Small for gestational age, Toe syndactyly
nEN-early2	SH3BGRL2	0.970292706	0	Unclassified	BrainSpLMD|83699;BrainSpMouseDev|84435	OMIM|615678
nEN-early2	HUNK	0.962255134	0	Serine/threonine kinase	BrainSpLMD|30811	OMIM|606532
nEN-early2	SPIRE1	0.96013237	0	Transport/cargo protein	BrainSpLMD|56907	OMIM|609216
nEN-early2	RP11.806K15.1	0.958028444	0			
nEN-early2	ROBO2	0.957137111	0	Cell surface receptor	BrainSpMouseDev|92611	SFARI||Autism, 3 - Suggestive evidence;OMIM|602431;COSMIC||colorectal adenocarcinoma, melanoma;HPO|6092|Autosomal dominant inheritance, Renal hypoplasia, Vesicoureteral reflux
nEN-early2	FAM126A	0.955498436	0	Unclassified	BrainSpLMD|84668;Eurexp|euxassay_013806|olfactory, ventricular layer	OMIM|610531;HPO|84668|Abnormal pyramidal signs, Abnormality of the cerebellum, Autosomal recessive inheritance, Babinski sign, Cerebral hypomyelination, Cerebral white matter atrophy, Congenital cataract, Decreased motor nerve conduction velocity, Dysarthria, Global developmental delay, Hyperreflexia, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intention tremor, Leukodystrophy, Loss of ability to walk, Lower limb amyotrophy, Lower limb muscle weakness, Motor delay, Muscular hypotonia of the trunk, Polyneuropathy, Scoliosis, Seizures, Truncal titubation, Variable expressivity
nEN-early2	CNR1	0.955238912	0	G protein coupled receptor	BrainSpLMD|1268;BrainSpMouseDev|12584	SFARI||Autism, 3 - Suggestive evidence;OMIM|114610
nEN-early2	ENC1	0.941172633	0	Structural protein	BrainSpLMD|8507;BrainSpMouseDev|13581	OMIM|605173
nEN-early2	MN1	0.936012908	0	Cell cycle control protein	BrainSpLMD|4330;Eurexp|euxassay_012879|axial skeleton, head mesenchyme, mantle layer, marginal layer, metacarpus, metatarsus, palatal shelf, phalanx, tarsus, ventral grey horn, ventricular layer, vibrissa	OMIM|156100;COSMIC||AML, meningioma;HPO|4330|Adult onset, Autosomal dominant inheritance, Incomplete penetrance, Meningioma
nEN-early2	NTM	0.924097529	0	Adhesion molecule	BrainSpLMD|50863;Eurexp|euxassay_012548|axial skeleton, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, meninges, mesenchyme, neural retina, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|87964	OMIM|607938
nEN-early2	LRRC7	0.916618773	0	Cell junction protein	BrainSpLMD|57554;Eurexp|euxassay_009687|brain, spinal cord	SFARI||Autism, No category;OMIM|614453
nEN-early2	PTPN4	0.914093023	0	Tyrosine phosphatase	BrainSpLMD|5775;Eurexp|euxassay_009725|mantle layer, marginal layer, ventricular layer	OMIM|176878
nEN-early2	SETD7	0.907696303	0	Enzyme: Methyltransferase	BrainSpLMD|80854;BrainSpMouseDev|49092	OMIM|606594
nEN-early2	CTTNBP2	0.890509043	0	Unclassified	BrainSpLMD|83992;Eurexp|euxassay_015493|dorsal grey horn, limb, mantle layer, penis, thalamus;BrainSpMouseDev|29776	SFARI||Autism, 3 - Suggestive evidence;OMIM|609772
nEN-early2	KIAA1107	0.881228057	0	Unclassified		
nEN-early2	SATB2	0.873120062	0	Transcription regulatory protein	BrainSpLMD|23314;Eurexp|euxassay_018949|axial skeleton, clavicle, femur, fibula, humerus, intermediate grey horn, laryngeal, larynx, mandible, mantle layer, maxilla, mesenchyme, orbito-sphenoid, palatal shelf, pelvic girdle, rib, scapula, shoulder, tibia;BrainSpMouseDev|84457	SFARI||Autism, 4 - Minimal evidence;OMIM|608148;HPO|23314|Aggressive behavior, Arachnodactyly, Autosomal dominant inheritance, Broad-based gait, Bulbous nose, Camptodactyly, Cleft palate, Conical tooth, Delayed speech and language development, Dental crowding, Downslanted palpebral fissures, Feeding difficulties, Fine hair, Frontal bossing, Global developmental delay, Happy demeanor, High forehead, High palate, Hyperactivity, Inguinal hernia, Intellectual disability, Intellectual disability, severe, Long face, Long nose, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Midface retrusion, Muscular hypotonia, Nail dysplasia, Narrow mouth, Narrow nose, Oligodontia, Prominent nasal bridge, Seizures, Short stature, Smooth philtrum, Sparse hair, Talipes equinovarus, Thin skin, Thin vermilion border
nEN-early2	PAK7	0.859482483	0			
nEN-early2	PTPRD	0.856351331	0	Receptor tyrosine phosphatase	BrainSpLMD|5789	OMIM|601598
nEN-early2	PLCB1	0.856071635	0	Enzyme: Phospholipase	BrainSpLMD|23236	SFARI||Autism, 3 - Suggestive evidence;OMIM|607120;HPO|23236|Abnormality of skin morphology, Autosomal recessive inheritance, Developmental regression, Epileptic encephalopathy, Focal seizures, Generalized seizures, Hyperreflexia, Hypsarrhythmia, Infantile spasms, Muscular hypotonia of the trunk, Myoclonus, Spasticity
nEN-early2	ZNF462	0.852014569	0	Transcription regulatory protein	BrainSpLMD|58499;Eurexp|euxassay_016001|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, incisor, inner ear, mandible, mantle layer, mesenchyme, metanephros, molar, neural retina, penis, pharyngo-tympanic tube, submandibular gland primordium, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|88953	SFARI||Autism, 4 - Minimal evidence;OMIM|617371
nEN-early2	PHACTR3	0.840018831	0	Regulatory/other subunit	BrainSpLMD|116154	OMIM|608725
nEN-early2	GNG3	0.838865115	0	G protein	BrainSpLMD|2785;Eurexp|euxassay_010359|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608941
nEN-early2	RP11.181B18.1	0.835027662	0			
nEN-early2	FRMD4B	0.829627102	0	Unclassified		OMIM|617467
nEN-early2	POU3F2	0.825674978	0	Transcription factor	BrainSpLMD|5454;BrainSpMouseDev|18755	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600494
nEN-early2	THBS1	0.82278336	0	Extracellular matrix protein	BrainSpLMD|7057;Eurexp|euxassay_005711|axial skeleton, clavicle, cranium, footplate, handplate, left lung, lip, liver, mesenchyme, naris, rest of mesenchyme, right lung, sternum, turbinate bones	SFARI||Autism, No category;OMIM|188060
nEN-early2	HECTD4	0.816817214	0	Unclassified	BrainSpLMD|283450;Eurexp|euxassay_010071|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence
nEN-early2	IGSF3	0.805785037	0	Integral membrane protein	BrainSpLMD|3321	OMIM|603491;HPO|3321|Autosomal dominant inheritance, Autosomal recessive inheritance, Dacryocystocele, Increased lacrimation, Lacrimal duct atresia
nEN-early2	CBLB	0.804212576	0	Adapter molecule	BrainSpLMD|868;Eurexp|euxassay_012817|extrinsic ocular muscle, incisor, mantle layer, marginal layer, ventricular layer	OMIM|604491;COSMIC||AML
nEN-early2	PRKX	0.785895674	0	Serine/threonine kinase	BrainSpLMD|5613	OMIM|300083
nEN-early2	TNIK	0.783829637	0	Serine/threonine kinase	BrainSpLMD|23043	OMIM|610005;HPO|23043|Autosomal recessive inheritance, Delayed speech and language development, Hyperactivity, Intellectual disability
nEN-early2	SLC22A23	0.781036087	0	Integral membrane protein	BrainSpLMD|63027	OMIM|611697
nEN-early2	PAG1	0.779989605	0	Adapter molecule	BrainSpLMD|55824	OMIM|605767
nEN-early2	DOK6	0.77754631	0	Adapter molecule	BrainSpLMD|220164;Eurexp|euxassay_013254|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, spinal cord, trigeminal V	OMIM|611402
nEN-early2	KCNN3	0.775966789	0	Intracellular ligand gated channel	BrainSpLMD|3782	OMIM|602983
nEN-early2	CASC15	0.77488161	0			OMIM|616610
nEN-early2	PGAP1	0.772530938	0	Enzyme: Acyltransferase	BrainSpLMD|80055	OMIM|611655;HPO|80055|Abnormal electroretinogram, Abnormality of the dentition, Autosomal recessive inheritance, Cerebral atrophy, Global developmental delay, Intellectual disability, Macrotia, Microcephaly, Neonatal hypotonia, Retinal dystrophy, Short neck, Short stature, Wide mouth
nEN-early2	TIAM2	0.772001784	0	Guanine nucleotide exchange factor	BrainSpLMD|26230;BrainSpMouseDev|23752	OMIM|604709
nEN-early2	FMNL2	0.768813997	0	Unclassified	BrainSpLMD|114793	OMIM|616285
nEN-early2	AC010729.1	0.766383075	0			
nEN-early2	DOCK4	0.764237808	0	GTPase activating protein	BrainSpLMD|9732	SFARI||Autism, No category;OMIM|607679
nEN-early2	PCLO	0.759293821	0	Cytoskeletal protein	BrainSpLMD|27445;Eurexp|euxassay_009714|brain, cervical, cervico-thoracic, olfactory, spinal cord, thoracic;BrainSpMouseDev|26621	OMIM|604918;HPO|27445|Autosomal recessive inheritance, Brachycephaly, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy, Congenital onset, Decreased body weight, Depressed nasal bridge, Downturned corners of mouth, Full cheeks, Global developmental delay, Hearing impairment, High palate, High, narrow palate, Hyperreflexia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Long palpebral fissure, Long philtrum, Low-set ears, Macrotia, Muscular hypotonia of the trunk, Neonatal hypotonia, Optic atrophy, Poor head control, Progressive, Progressive microcephaly, Proptosis, Seizures, Short stature, Spasticity
nEN-early2	EZR	0.759225177	0	Anchor protein	BrainSpLMD|7430;Eurexp|euxassay_018306|axial skeleton, calyces, choroid plexus, cochlea, dorsal root ganglion, epidermis, epithelium, fundus region, hindgut, incisor, larynx, lens, lobe, lung, marginal layer, midgut, molar, oesophagus, oral epithelium, pelvis, penis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, rib, saccule, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricle, ventricular layer, vibrissa	OMIM|123900;COSMIC||NSCLC
nEN-early2	NHSL1	0.748072167	0	Unclassified		
nEN-early2	RP11.524C21.2	0.74799761	0			
nEN-early2	GRIA3	0.74258752	0	Extracellular ligand gated channel	BrainSpLMD|2892;BrainSpMouseDev|32941	OMIM|305915;HPO|2892|Aggressive behavior, Brachycephaly, Deeply set eye, Intellectual disability, Intellectual disability, severe, Prominent supraorbital ridges, Short stature, X-linked recessive inheritance
nEN-early2	B3GALT1	0.737087395	0	Enzyme: Galactosyltransferase	BrainSpLMD|8708	OMIM|603093
nEN-early2	BHLHE22	0.734129022	0	Unclassified	BrainSpLMD|27319;BrainSpMouseDev|37621	OMIM|613483
nEN-early2	GRIA2	0.727384942	0	Extracellular ligand gated channel	BrainSpLMD|2891;Eurexp|euxassay_010006|brain, dorsal root ganglion, molar, penis, skeletal muscle, spinal cord, trigeminal V, vagus X;BrainSpMouseDev|14576	OMIM|138247
nEN-early2	AC018643.4	0.715880133	0			
nEN-early2	PPFIA2	0.71424527	0	Anchor protein	BrainSpLMD|8499	OMIM|603143
nEN-early2	NFIB	0.71410546	0	Transcription factor	BrainSpLMD|4781;BrainSpMouseDev|17795	OMIM|600728;COSMIC||adenoid cystic carcinoma, lipoma
nEN-early2	CBFA2T2	0.713069398	0	Transcription factor	BrainSpLMD|9139;Eurexp|euxassay_019496|lung, marginal layer, neural retina, olfactory, pituitary, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|12181	OMIM|603672
nEN-early2	SSTR2	0.681092409	0	G protein coupled receptor	BrainSpLMD|6752;BrainSpMouseDev|20368	OMIM|182452
nEN-early2	DDAH2	0.678548917	0	Enzyme: Hydrolase	BrainSpLMD|23564	OMIM|604744
nEN-early2	LRP12	0.677933694	0	Cell surface receptor	BrainSpLMD|29967;Eurexp|euxassay_002372|brain, cervical, cervico-thoracic, dorsal root ganglion, nasal septum, spinal cord, thoracic, trigeminal V, turbinate bones	
nEN-early2	AUTS2	0.666583593	0	Unclassified	BrainSpLMD|26053	SFARI||Autism, 3 - Suggestive evidence;OMIM|607270;HPO|26053|Abnormal facial shape, Arthrogryposis multiplex congenita, Autism, Autosomal dominant inheritance, Brachycephaly, Cerebral palsy, Decreased palmar creases, Delayed speech and language development, Downslanted palpebral fissures, Feeding difficulties, Global developmental delay, Highly arched eyebrow, Hypertelorism, Intellectual disability, Kyphosis, Low-set ears, Microcephaly, Narrow mouth, Prominent nasal tip, Ptosis, Scoliosis, Short palpebral fissure, Short philtrum, Short stature, Small for gestational age, Strabismus, Thick eyebrow, Wide nasal base
nEN-early2	LINC01102	0.662044052	0			
nEN-early2	NFIX	0.661428944	0	Transcription factor	BrainSpLMD|4784;BrainSpMouseDev|17799	SFARI||Autism, No category;OMIM|164005;HPO|4784|Accelerated skeletal maturation, Advanced eruption of teeth, Agenesis of corpus callosum, Anteverted nares, Anxiety, Astigmatism, Atlantoaxial dislocation, Atrial septal defect, Autosomal dominant inheritance, Blue sclerae, Bullet-shaped middle phalanges of the hand, Cerebral atrophy, Choanal atresia, Choanal stenosis, Coxa valga, Cutis marmorata, Death in childhood, Decreased body weight, Delayed speech and language development, Depressed nasal bridge, Distal widening of metacarpals, Downslanted palpebral fissures, Eclabion, Everted lower lip vermilion, Failure to thrive, Frontal bossing, Generalized hypotonia, Gingival overgrowth, Glossoptosis, Hearing impairment, High forehead, Hypermetropia, Hypoplasia of the odontoid process, Intellectual disability, Irregular dentition, Large sternal ossification centers, Laryngomalacia, Long face, Long fingers, Low-set ears, Macrocephaly, Macrogyria, Malar flattening, Mandibular prognathia, Midface retrusion, Motor delay, Narrow face, Narrow mouth, Nystagmus, Obstructive sleep apnea, Omphalocele, Overfolded helix, Overgrowth, Patent ductus arteriosus, Pectus excavatum, Prominence of the premaxilla, Prominent forehead, Pulmonary arterial hypertension, Recurrent aspiration pneumonia, Retrognathia, Scoliosis, Shallow orbits, Short distal phalanx of finger, Short mandibular rami, Short nose, Short philtrum, Short sternum, Slender long bone, Sporadic, Strabismus, Synophrys, Tall stature, Thick eyebrow, Umbilical hernia, Ventriculomegaly
nEN-early2	EPB41L3	0.658214006	0	Structural protein	BrainSpLMD|23136	OMIM|605331
nEN-early2	CELSR2	0.653188935	0	G protein coupled receptor	BrainSpLMD|1952;Eurexp|euxassay_008296|brain, spinal cord, vibrissa;BrainSpMouseDev|33178	OMIM|604265
nEN-early2	FAM13A	0.652589332	0	Unclassified	BrainSpLMD|10144	OMIM|613299
nEN-early2	NEUROD1	0.640936938	0	Transcription factor	BrainSpLMD|4760;Eurexp|euxassay_019467|dorsal grey horn, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, pancreas, pineal primordium, pituitary, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17779	OMIM|601724;HPO|4760|Autosomal dominant inheritance, Maturity-onset diabetes of the young
nEN-early2	CPE	0.633646566	0	Carboxypeptidase	BrainSpLMD|1363	OMIM|114855
nEN-early2	DCC	0.623202943	0	Cell surface receptor	BrainSpLMD|1630;Eurexp|euxassay_009578|mantle layer, marginal layer, neural retina, ventricular layer;BrainSpMouseDev|12956	OMIM|120470;COSMIC||CRC, melanoma, SCC;HPO|1630|Autosomal dominant inheritance, Bimanual synkinesia, Hereditary nonpolyposis colorectal carcinoma, Incomplete penetrance, Neoplasm of the stomach, Renal cell carcinoma, Squamous cell carcinoma, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma
nEN-early2	ABRACL	0.618616906	0	Unclassified	BrainSpLMD|58527	
nEN-early2	ZBTB18	0.615207002	0	Transcription regulatory protein	BrainSpLMD|10472	OMIM|608433;HPO|10472|Abnormality of the pinna, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Depressed nasal bridge, Epicanthus, Generalized hypotonia, Global developmental delay, Hypertelorism, Intellectual disability, Low-set ears, Microcephaly, Micrognathia, Prominent forehead, Round face, Seizures, Short stature, Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Variable expressivity
nEN-early2	ZNF608	0.611127523	0	Unclassified		
nEN-early2	OCIAD2	0.606009368	0	Unclassified	BrainSpLMD|132299	
nEN-early2	MEIS2	0.603472513	0	Transcription factor	BrainSpLMD|4212;BrainSpMouseDev|17303	OMIM|601740;HPO|4212|2-3 toe syndactyly, Atrial septal defect, Autistic behavior, Autosomal dominant inheritance, Biparietal narrowing, Broad hallux, Broad thumb, Cleft palate, Cleft upper lip, Coarctation of aorta, Deeply set eye, Delayed speech and language development, Gastroesophageal reflux, Global developmental delay, High anterior hairline, Highly arched eyebrow, Intellectual disability, Large forehead, Microcephaly, Narrow forehead, Pointed chin, Sandal gap, Short 2nd finger, Short 5th finger, Short philtrum, Short stature, Smooth philtrum, Sparse eyebrow, Tented upper lip vermilion, Upslanted palpebral fissure, Ventricular septal defect
nEN-early2	D4S234E	0.599535825	0			
nEN-early2	MYT1L	0.586997696	0	Transcription factor	BrainSpLMD|23040;BrainSpMouseDev|17700	SFARI||Autism, 1 - High confidence;OMIM|613084;HPO|23040|Aggressive behavior, Autosomal dominant inheritance, Delayed speech and language development, Global developmental delay, Intellectual disability, Obesity
nEN-early2	CEP85L	0.578295525	0	Unclassified	BrainSpLMD|387119	
nEN-early2	KIF5C	0.576820798	0	Motor protein	BrainSpLMD|3800;Eurexp|euxassay_015929|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, olfactory, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|16347	SFARI||Autism, No category;OMIM|604593;HPO|3800|Absent speech, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Congenital onset, Cortical dysplasia, Fetal akinesia sequence, Global developmental delay, Hypoplasia of the corpus callosum, Intrauterine growth retardation, Microcephaly, Polymicrogyria, Seizures, Spastic tetraplegia, Variable expressivity
nEN-early2	FRMD4A	0.560782331	0	Cytoskeletal associated protein	BrainSpLMD|55691;Eurexp|euxassay_001880|dorsal root ganglion, glossopharyngeal IX, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|616305;HPO|55691|Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Ataxia, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Congenital microcephaly, Everted lower lip vermilion, Global developmental delay, Hirsutism, Intellectual disability, Long eyelashes, Low anterior hairline, Low-set ears, Narrow forehead, Posteriorly rotated ears, Protruding ear, Sparse hair, Strabismus, Thick eyebrow, Upper eyelid edema
nEN-early2	GPM6A	0.560778734	0	Integral membrane protein	BrainSpLMD|2823;Eurexp|euxassay_005521|brain, diaphragm, epithelium, lip, mesenchyme, mesothelium, neural retina, olfactory, pericardial cavity, spinal cord, stroma	OMIM|601275
nEN-early2	SOX11	0.55934879	0	Transcription factor	BrainSpLMD|6664;BrainSpMouseDev|20428	OMIM|600898;HPO|6664|Abnormal facial shape, Abnormality of cardiovascular system morphology, Abnormality of the columella, Abnormality of the dentition, Abnormality of the nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Autosomal dominant inheritance, Clinodactyly, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Everted lower lip vermilion, Feeding difficulties in infancy, Full cheeks, Generalized hirsutism, Global developmental delay, Hearing impairment, Highly arched eyebrow, Hypertrichosis, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Long nose, Low-set ears, Microcephaly, Midface retrusion, Muscular hypotonia, Nystagmus, Open mouth, Posteriorly rotated ears, Recurrent respiratory infections, Scoliosis, Seizures, Short chin, Short distal phalanx of finger, Short nose, Short palpebral fissure, Short philtrum, Short stature, Slow-growing hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick vermilion border, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Wide mouth, Wide nasal bridge
nEN-early2	RP11.166D19.1	0.555505549	0			
nEN-early2	FAM115A	0.553124362	0			
nEN-early2	C14orf23	0.551908059	0			
nEN-early2	UNC79	0.546796716	0	Unclassified	BrainSpLMD|57578	OMIM|616884
nEN-early2	SLC38A1	0.546648937	0	Membrane transport protein	BrainSpLMD|81539;Eurexp|euxassay_019706|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, stomach, submandibular gland primordium, testis, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|608490
nEN-early2	FYN	0.543761842	0	Tyrosine kinase	BrainSpLMD|2534;BrainSpMouseDev|14136	OMIM|137025
nEN-early2	ZNF286B	0.534690241	0	Unclassified		
nEN-early2	HECW1	0.52950416	0	Ubiquitin proteasome system protein	BrainSpLMD|23072;Eurexp|euxassay_009392|brain, cerebral cortex, facial VII, glossopharyngeal IX, mantle layer, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610384
nEN-early2	SYT1	0.525895124	0	Calcium binding protein	BrainSpLMD|6857;Eurexp|euxassay_018026|adrenal gland, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, epithelium, external, facial VII, foregut-midgut junction, glossopharyngeal IX, hindbrain, hindgut, incisor, limb, mantle layer, marginal layer, mesenchyme, midbrain, midgut, neural retina, oesophagus, olfactory, oral epithelium, pectoralis major, pectoralis minor, pituitary, retina, spinal cord, stomach, stroma, thoracic, tongue, trigeminal V, ureter, urethra, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|20740	OMIM|185605
nEN-early2	SLC24A2	0.524941341	0	Membrane transport protein	BrainSpLMD|25769	SFARI||Autism, No category;OMIM|609838
nEN-early2	CAMK4	0.522036286	0	Serine/threonine kinase	BrainSpLMD|814;BrainSpMouseDev|12111	SFARI||Autism, 4 - Minimal evidence;OMIM|114080
nEN-early2	IP6K2	0.521303349	0	Lipid Kinase	BrainSpLMD|51447	OMIM|606992
nEN-early2	MEX3A	0.510790581	0	RNA binding protein	Eurexp|euxassay_010898|neural retina, olfactory, vomeronasal organ	OMIM|611007
nEN-early2	CACNA2D1	0.509320431	0	Voltage gated channel	BrainSpLMD|781;Eurexp|euxassay_006438|dorsal grey horn, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, pituitary, skeletal muscle, trigeminal V, ventral grey horn, vertebral axis muscle system;BrainSpMouseDev|12078	OMIM|114204;HPO|781|Atrial fibrillation, Bradycardia, Palpitations, Shortened QT interval
nEN-early2	BZW2	0.499455455	0	Translation regulatory protein	BrainSpLMD|28969	
nEN-early2	AMER2	0.488715327	0	Unclassified	BrainSpLMD|219287;Eurexp|euxassay_006362|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614659
nEN-early2	SLC1A2	0.48861238	0	Membrane transport protein	BrainSpLMD|6506;Eurexp|euxassay_009471|brain, spinal cord;BrainSpMouseDev|20273	SFARI||Autism, No category;OMIM|600300;HPO|6506|Autosomal dominant inheritance, Cerebral atrophy, Epileptic encephalopathy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Intellectual disability, profound, Kyphoscoliosis, Neonatal onset, Seizures
nEN-early2	CUX2	0.487969195	0	Transcription factor	BrainSpMouseDev|12829	OMIM|610648
nEN-early2	ZNF286A	0.486905879	0	DNA binding protein	BrainSpLMD|57335	
nEN-early2	POU3F3	0.47474753	0	Transcription factor	BrainSpLMD|5455;Eurexp|euxassay_019559|axial skeleton, ductus deferens, inner ear, larynx, lip, loop, lower, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, nasal septum, palatal shelf, penis, phalanx, rectum, skeletal muscle, trigeminal V, upper, ventricular layer;BrainSpMouseDev|18756	OMIM|602480
nEN-early2	TLE3	0.469530256	0	Transcription regulatory protein	BrainSpLMD|7090;BrainSpMouseDev|21646	OMIM|600190
nEN-early2	SPTAN1	0.465771589	0	Cytoskeletal protein;Structural protein	BrainSpLMD|6709;Eurexp|euxassay_012194|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lens, mantle layer, midgut, neural retina, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|182810;HPO|6709|Abnormality of skin morphology, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Developmental regression, Epileptic encephalopathy, Generalized hypotonia, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, profound, Intellectual disability, severe, Myoclonus, Progressive microcephaly, Seizures, Spastic tetraplegia, Variable expressivity
nEN-early2	AKT3	0.465745731	0	Serine/threonine kinase	BrainSpLMD|10000;Eurexp|euxassay_006568|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611223;COSMIC||GBM;HPO|10000|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Cutis marmorata, Depressed nasal bridge, Hemimegalencephaly, High forehead, Hydrocephalus, Hyperextensible skin, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
nEN-early2	CXADR	0.451081939	0	Cell surface receptor	BrainSpLMD|1525;Eurexp|euxassay_012371|bladder, cochlea, cortex, endolymphatic duct, epidermis, epithelium, facial VII, glossopharyngeal IX, incisor, larynx, left lung, mantle layer, marginal layer, meninges, mesothelium, metanephros, midgut, molar, neural retina, olfactory, oral epithelium, pancreas, pharyngo-tympanic tube, primitive seminiferous tubules, rectum, right lung, stomach, trachea, trigeminal V, urogenital mesentery, utricle, vagus X, vestibulocochlear VIII, vibrissa	OMIM|602621
nEN-early2	CEP170	0.447984089	0	Unclassified	BrainSpLMD|9859	OMIM|613023
nEN-early2	ATCAY	0.443880194	0	Integral membrane protein	BrainSpLMD|85300;Eurexp|euxassay_004136|brain, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, midgut, neural retina, olfactory, spinal cord, stomach, telencephalon, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608179;HPO|85300|Autosomal recessive inheritance, Broad-based gait, Dysarthria, Gait ataxia, Generalized hypotonia, Global developmental delay, Intention tremor, Nystagmus
nEN-early2	RTN1	0.437295299	0	Integral membrane protein	BrainSpLMD|6252;Eurexp|euxassay_003752|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, penis, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|600865
nEN-early2	TMEM57	0.431635662	0			
nEN-early2	TAGLN3	0.42951161	0	Cytoskeletal associated protein;Unclassified	BrainSpLMD|29114;Eurexp|euxassay_000750|dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, inferior, neural retina, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607953
nEN-early2	ASXL3	0.429030688	0	Unclassified		SFARI||Autism, 1 - High confidence;OMIM|615115;HPO|80816|Anteverted nares, Feeding difficulties, Highly arched eyebrow, Severe global developmental delay, Severe postnatal growth retardation
nEN-early2	ARHGAP21	0.428901539	0	GTPase activating protein	BrainSpLMD|57584;Eurexp|euxassay_007662|dorsal root ganglion, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, ventral grey horn	OMIM|609870
nEN-early2	CD24	0.424316049	0		BrainSpLMD|100133941;BrainSpMouseDev|12269	OMIM|600074
nEN-early2	SEZ6L	0.416269502	0	Integral membrane protein	BrainSpLMD|23544;Eurexp|euxassay_009459|brain, neural retina, spinal cord	OMIM|607021
nEN-early2	RBFOX2	0.40979876	0	RNA binding protein	BrainSpLMD|23543	OMIM|612149
nEN-early2	TNRC6B	0.404634069	0	Unclassified	BrainSpLMD|23112	SFARI||Autism, 2 - Strong candidate;OMIM|610740
nEN-early2	ANKS1B	0.404509852	0	Transcription regulatory protein	BrainSpLMD|56899	SFARI||Autism, No category;OMIM|607815
nEN-early2	PTPRS	0.397750895	0	Receptor tyrosine phosphatase	BrainSpLMD|5802;Eurexp|euxassay_009779|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|601576
nEN-early2	NRXN1	0.386213425	0	Cell surface receptor	BrainSpLMD|9378;Eurexp|euxassay_005585|arm, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, leg, midbrain, neural retina, olfactory, oral epithelium, respiratory, spinal cord, thoracic, trigeminal V, trunk mesenchyme, vagus X, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17956	SFARI||Autism, 2 - Strong candidate;OMIM|600565;HPO|9378|Autosomal recessive inheritance, Constipation, Drooling, Epileptic encephalopathy, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Hyperventilation, Intellectual disability, severe, Protruding tongue, Pulmonic stenosis, Scoliosis, Strabismus, Wide mouth
nEN-early2	KDM5B	0.382679811	0	Transcription regulatory protein	BrainSpLMD|10765;BrainSpMouseDev|51446	SFARI||Autism, 2 - Strong candidate;OMIM|605393
nEN-early2	SYT4	0.379497702	0	Calcium binding protein	BrainSpLMD|6860	OMIM|600103
nEN-early2	MIAT	0.374275046	0			OMIM|611082
nEN-early2	CLASP2	0.371706187	0	Cytoskeletal associated protein	BrainSpLMD|23122;Eurexp|euxassay_014210|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla oblongata, metencephalon, midbrain, spinal cord, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605853
nEN-early2	FAM117B	0.368744684	0	Unclassified	BrainSpLMD|150864	
nEN-early2	FNBP1L	0.367689482	0	Cytoskeletal protein	BrainSpLMD|54874;Eurexp|euxassay_007867|diencephalon, dorsal root ganglion, glossopharyngeal IX, hindbrain, midbrain, neural retina, pituitary, spinal cord, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608848
nEN-early2	PLXNA4	0.352616896	0	Unclassified	BrainSpLMD|91584;Eurexp|euxassay_009720|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X;BrainSpMouseDev|89119	SFARI||Autism, 3 - Suggestive evidence;OMIM|604280
nEN-early2	CDK5R1	0.35082851	0	Regulatory/other subunit	BrainSpLMD|8851;BrainSpMouseDev|12354	OMIM|603460
nEN-early2	TUBA1A	0.349962433	0	Cytoskeletal protein	BrainSpLMD|7846	OMIM|602529;HPO|7846|Agenesis of corpus callosum, Ataxia, Autosomal dominant inheritance, Cerebellar vermis hypoplasia, Generalized hypotonia, Heterotopia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, severe, Lissencephaly, Microcephaly, Motor delay, Pachygyria, Polymicrogyria, Seizures, Spastic tetraplegia, Ventriculomegaly
nEN-early2	EPHA5	0.346310698	0	Receptor tyrosine kinase	BrainSpLMD|2044;Eurexp|euxassay_018953|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|13617	OMIM|600004
nEN-early2	MAP2	0.34196578	0	Cytoskeletal associated protein	BrainSpLMD|4133;Eurexp|euxassay_015099|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|17523	SFARI||Autism, 5 - Hypothesized but untested;OMIM|157130
nEN-early2	CSRP2	0.323002386	0	Adapter molecule	BrainSpLMD|1466;Eurexp|euxassay_016538|aorta, bladder, dorsal grey horn, hindgut, intermediate grey horn, mantle layer, midgut, neural retina, orbito-sphenoid, pancreas, skeletal muscle, stomach, temporal bone, turbinate, vault of skull	OMIM|601871
nEN-early2	ENAH	0.317095349	0	Cytoskeletal protein	BrainSpLMD|55740;BrainSpMouseDev|13578	OMIM|609061
nEN-early2	FOXG1	0.312272899	0	Transcription factor	BrainSpLMD|2290;Eurexp|euxassay_017858|glossopharyngeal IX, mantle layer, molar, olfactory, thymus primordium, vestibulocochlear VIII;BrainSpMouseDev|15004	SFARI||Autism, No category;OMIM|164874;HPO|2290|Abnormality of movement, Abnormality of the antihelix, Abnormality of the antitragus, Abnormality of the fingernails, Abnormality of the metacarpal bones, Absent speech, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Apraxia, Athetosis, Autosomal dominant inheritance, Blepharophimosis, Bruxism, Bulbous nose, Camptodactyly of finger, Cerebral cortical atrophy, Chorea, Clinodactyly of the 5th finger, Constipation, Cortical gyral simplification, Delayed myelination, Depressed nasal bridge, Developmental regression, Downslanted palpebral fissures, Drooling, Dyskinesia, Dystonia, EEG abnormality, Epicanthus, Everted lower lip vermilion, Excessive salivation, Feeding difficulties, Fine hair, Gastroesophageal reflux, Growth delay, Hearing impairment, Hypoplasia of the corpus callosum, Intellectual disability, Intellectual disability, severe, Kyphosis, Long philtrum, Macroglossia, Mandibular prognathia, Microcephaly, Motor delay, Muscular hypotonia, Neonatal hypotonia, Nephrolithiasis, Pachygyria, Palpebral edema, Pes planus, Poor eye contact, Progressive microcephaly, Prominent metopic ridge, Protruding ear, Scoliosis, Seizures, Short nose, Smooth philtrum, Spasticity, Sporadic, Stereotypy, Talipes equinovarus, Tented upper lip vermilion, Thick vermilion border, Tongue thrusting, Underdeveloped nasal alae, Ventriculomegaly, Wide mouth, Wide nose
nEN-early2	TUBBP1	0.30978258	0			
nEN-early2	HN1	0.30453906	0			
nEN-early2	DYNC1I2	0.301365463	0	Motor protein	BrainSpLMD|1781;Eurexp|euxassay_005868|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|603331
nEN-early2	TUBB2B	0.289447985	0	Cytoskeletal protein	BrainSpLMD|347733;Eurexp|euxassay_006373|embryo	OMIM|612850;HPO|347733|Agenesis of corpus callosum, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral palsy, Drooling, Frontoparietal cortical dysplasia, Gait disturbance, Global developmental delay, Hemiparesis, Hyperreflexia, Hypoplasia of the corpus callosum, Intellectual disability, Lissencephaly, Microcephaly, Motor delay, Muscular hypotonia, Pachygyria, Seizures, Short stature, Skeletal muscle atrophy, Specific learning disability, Strabismus, Unilateral polymicrogyria, Variable expressivity
nEN-early2	KIDINS220	0.282028321	0	Integral membrane protein	Eurexp|euxassay_009418|brain, cervical, cervico-thoracic, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|615759;HPO|57498|Astigmatism, Autosomal dominant inheritance, Cerebral atrophy, Deeply set eye, Delayed myelination, Delayed speech and language development, Dilation of lateral ventricles, Esotropia, Full cheeks, Global developmental delay, Hypermetropia, Hyperreflexia, Infantile onset, Intellectual disability, Limb hypertonia, Muscular hypotonia of the trunk, Nystagmus, Prominent forehead, Reduced visual acuity, Spastic paraplegia
nEN-early2	MT.CO1	0.280827062	0			
nEN-early2	LINC01158	0.278578194	0			
nEN-early2	KIF5A	0.275220767	0	Motor protein	BrainSpLMD|3798;Eurexp|euxassay_018169|Meckel's cartilage, axial skeleton, basioccipital bone, brain, cervical, cervico-thoracic, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, olfactory, orbito-sphenoid, pelvic girdle, radius, rib, scapula, spinal cord, temporal bone, thoracic, tibia, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|602821;HPO|3798|Ankle clonus, Athetosis, Autosomal dominant inheritance, Babinski sign, Chorea, Congenital onset, Cortical visual impairment, Delayed myelination, Developmental stagnation, Distal sensory impairment, Dysphagia, Feeding difficulties, Generalized hypotonia, Hyperreflexia, Impaired vibration sensation in the lower limbs, Knee clonus, Lower limb muscle weakness, Microcephaly, Nystagmus, Pes cavus, Phenotypic variability, Progressive, Progressive leukoencephalopathy, Ptosis, Scoliosis, Spastic gait, Spastic paraplegia, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
nEN-early2	NREP	0.260162612	0	Unclassified	BrainSpLMD|9315	OMIM|607332
nEN-early2	NKAIN2	0.260022716	0	Integral membrane protein	BrainSpLMD|154215	OMIM|609758
nEN-early2	PDE4D	0.258562632	0	Enzyme: Phosphodiesterase	BrainSpLMD|5144	OMIM|600129;HPO|5144|Abnormal form of the vertebral bodies, Abnormality of female external genitalia, Abnormality of immune system physiology, Abnormality of the nail, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Anteverted nares, Autism, Autosomal dominant inheritance, Blue irides, Brachycephaly, Brachydactyly, Cerebral venous thrombosis, Cone-shaped epiphysis, Congenital craniofacial dysostosis, Congenital hypothyroidism, Congenital onset, Cryptorchidism, Delayed eruption of teeth, Delayed speech and language development, Depressed nasal bridge, Depressed nasal ridge, Diabetes mellitus, Elevated calcitonin, Elevated circulating parathyroid hormone level, Epiphyseal stippling, Fair hair, Global developmental delay, Growth hormone deficiency, Hearing impairment, Hyperactivity, Hyperphosphatemia, Hypertelorism, Hypocalcemia, Hypogonadism, Hypoplasia of the maxilla, Hypoplasia of the nasal bone, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic vertebral bodies, Hypospadias, Increased intracranial pressure, Intellectual disability, Intrauterine growth retardation, Malar flattening, Mandibular prognathia, Micromelia, Midface retrusion, Mild short stature, Narrow vertebral interpedicular distance, Obesity, Open mouth, Peripheral neuropathy, Pseudohypoparathyroidism, Red hair, Round face, Scoliosis, Short metacarpal, Short metatarsal, Short nose, Short phalanx of finger, Short stature, Short toe, Specific learning disability, Spinal canal stenosis, Wide nasal bridge
nEN-early2	KIAA1598	0.256442925	0			
nEN-early2	CRMP1	0.256177713	0	Enzyme: Hydrolase	BrainSpLMD|1400;Eurexp|euxassay_006182|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, genital tubercle, glossopharyngeal IX, midgut, neural retina, rectum, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602462
nEN-early2	STMN2	0.251259655	0	Cytoskeletal associated protein	BrainSpLMD|11075;Eurexp|euxassay_009268|cervical, cervico-thoracic, dorsal root ganglion, facial VII, footplate, forebrain, glossopharyngeal IX, handplate, hindbrain, hindgut, incisor, lip, midbrain, midgut, neural retina, oesophagus, olfactory, spinal cord, stomach, thoracic, thymus primordium, tongue, trigeminal V, vestibulocochlear VIII, vibrissa, visceral, vomeronasal organ	OMIM|600621
nEN-early2	CCDC88C	0.86563576	1.11E-16	Protease inhibitor	BrainSpLMD|440193;Eurexp|euxassay_016252|clavicle, femur, humerus, mandible, mantle layer, maxilla, orbito-sphenoid, rib, ventral grey horn	SFARI||Autism, 4 - Minimal evidence;OMIM|611204;HPO|440193|Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Broad-based gait, Congenital onset, Dysarthria, Dysdiadochokinesis, Hydrocephalus, Hyperreflexia, Intellectual disability, Intention tremor, Pontocerebellar atrophy, Seizures, Slow progression, Spastic paraparesis, Unsteady gait, Ventriculomegaly
nEN-early2	SLC44A5	0.655201013	1.11E-16	Transport/cargo protein	BrainSpLMD|204962;Eurexp|euxassay_019725|floor plate, floorplate, glossopharyngeal IX, lip, mantle layer, marginal layer, trachea, ventral grey horn, ventricular layer	
nEN-early2	SDCBP	0.627869718	1.11E-16	Adapter molecule	BrainSpLMD|6386;Eurexp|euxassay_008333|naris, olfactory, respiratory	OMIM|602217
nEN-early2	SOX5	0.367179605	1.11E-16	Transcription factor	BrainSpLMD|6660;BrainSpMouseDev|20440	SFARI||Autism, No category;OMIM|604975;HPO|6660|2-3 toe syndactyly, Abnormality of brain morphology, Anxiety, Autosomal dominant inheritance, Bulbous nose, Clinodactyly, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Exaggerated median tongue furrow, Exotropia, Facial asymmetry, Frontal bossing, Generalized hypotonia, Global developmental delay, Hyperplasia of the maxilla, Intellectual disability, Low-set ears, Lumbar hyperlordosis, Motor delay, Muscular hypotonia, Myopia, Narrow palate, Open mouth, Optic atrophy, Pectus carinatum, Phenotypic variability, Posteriorly rotated ears, Scoliosis, Strabismus, Thoracic kyphoscoliosis, Vertebral fusion, Wide nasal bridge
nEN-early2	BEX1	0.336336941	1.11E-16	Unclassified	BrainSpLMD|55859;Eurexp|euxassay_009948|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, metanephros, midgut, neural retina, olfactory, pancreas, paraxial mesenchyme, primitive seminiferous tubules, rest of mesenchyme, right lung, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|300690
nEN-early2	ERC1	0.566995432	2.22E-16	Regulatory/other subunit	BrainSpLMD|23085	OMIM|607127;COSMIC||papillary thyroid, Spitzoid tumour
nEN-early2	SCARNA22	0.486015253	2.22E-16			
nEN-early2	ZNF704	0.257890039	3.33E-16	Unclassified		
nEN-early2	C14orf132	0.837826448	4.44E-16	Unclassified	BrainSpLMD|56967	
nEN-early2	ZC2HC1A	0.475515229	4.44E-16	Unclassified	BrainSpLMD|51101;Eurexp|euxassay_014698|cochlear component, diencephalon, dorsal root ganglion, facial VII, hindbrain, inferior, medulla oblongata, metencephalon, midbrain, olfactory, spinal cord, superior, telencephalon, trigeminal V, turbinate bones, vagus X, vestibular component	
nEN-early2	3-Sep	0.391426471	5.55E-16			
nEN-early2	DSCAM	0.70198607	1.22E-15	Adhesion molecule	BrainSpLMD|1826	SFARI||Autism, 1 - High confidence;OMIM|602523
nEN-early2	LBH	0.898545631	1.33E-15	Transcription regulatory protein	BrainSpLMD|81606;BrainSpMouseDev|53729	OMIM|611763
nEN-early2	HES6	0.464551666	1.44E-15	Transcription regulatory protein	BrainSpLMD|55502;Eurexp|euxassay_018314|head mesenchyme, marginal layer, mesenchyme, molar, neural retina, olfactory, respiratory, retina, skeletal muscle, thymus primordium, trachea, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|35214	OMIM|610331
nEN-early2	TSPAN13	1.018520765	1.55E-15	Integral membrane protein	BrainSpLMD|27075;Eurexp|euxassay_003891|brain, cervical, cervico-thoracic, dorsal root ganglion, ductus deferens, facial VII, fundus region, glossopharyngeal IX, left lung, neural retina, olfactory, physiological umbilical hernia, rectum, right lung, spinal cord, stomach, thoracic, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII	OMIM|613139
nEN-early2	TTC39C	0.599721029	2.00E-15	Unclassified	BrainSpLMD|125488;Eurexp|euxassay_007378|anterior, brain, clavicle, dorsal root ganglion, external, facial VII, glossopharyngeal IX, medulla, primitive seminiferous tubules, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	
nEN-early2	CD24P4	0.325102355	2.22E-15			
nEN-early2	KIF21B	0.482645973	2.33E-15	Unclassified	BrainSpLMD|23046;Eurexp|euxassay_011005|dorsal root ganglion, facial VII, forebrain, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|608322
nEN-early2	TRAK1	0.900514001	3.77E-15	Transcription regulatory protein	BrainSpLMD|22906;Eurexp|euxassay_009992|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, submandibular gland primordium, trigeminal V, vagus X, ventricular layer	OMIM|608112
nEN-early2	ZNF292	0.352376111	5.11E-15	Transcription factor		SFARI||Autism, 4 - Minimal evidence;OMIM|616213
nEN-early2	EML1	0.770889741	5.44E-15	Structural protein	BrainSpLMD|2009	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602033;HPO|2009|Agenesis of corpus callosum, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Intellectual disability, severe, Macrocephaly, Polymicrogyria, Seizures, Sleep disturbance, Spasticity
nEN-early2	KLF7	0.458633474	5.88E-15	Transcription factor	BrainSpLMD|8609;Eurexp|euxassay_003485|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, respiratory, stroma, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII;BrainSpMouseDev|60343	OMIM|604865
nEN-early2	ZSWIM6	0.422238531	6.11E-15		Eurexp|euxassay_012565|mandible, mantle layer, maxilla	OMIM|615951;HPO|57688|Agenesis of corpus callosum, Autosomal dominant inheritance, Bifid nose, Brachycephaly, Broad nasal tip, Choroid plexus cyst, Cleft palate, Cleft upper lip, Encephalocele, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Large sella turcica, Meningocele, Preaxial polydactyly, Retrocerebellar cyst, Seizures, Syndactyly, Talipes equinovarus, Telecanthus, Thick nail, Thick nasal alae, Ventriculomegaly
nEN-early2	EDIL3	0.647465635	1.38E-14	Extracellular matrix protein	BrainSpLMD|10085	OMIM|606018
nEN-early2	WNK2	0.692965542	1.41E-14	Serine/threonine kinase	BrainSpLMD|65268;Eurexp|euxassay_009817|brain, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|606249;COSMIC||gastric cancer
nEN-early2	CD200	0.447124125	1.49E-14	Cell surface receptor;Unclassified	BrainSpLMD|4345;Eurexp|euxassay_010522|anterior, aorta, basisphenoid bone, brain, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, mandible, maxilla, neural retina, orbito-sphenoid, radius, rib, scapula, spinal cord, thoracic, tibia, trigeminal V, turbinate bones, ulna, vagus X, vestibulocochlear VIII, vibrissa	OMIM|155970
nEN-early2	STXBP1	0.371198148	2.01E-14	Transport/cargo protein	BrainSpLMD|6812	SFARI||Autism, 3 - Suggestive evidence;OMIM|602926;HPO|6812|Absent speech, Ataxia, Autosomal dominant inheritance, Cerebral atrophy, Cerebral hypomyelination, Cutaneous photosensitivity, Developmental regression, EEG abnormality, EEG with burst suppression, Epileptic encephalopathy, Epileptic spasms, Febrile seizures, Focal clonic seizures, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic seizures, Generalized tonic-clonic seizures, Hypoplasia of the corpus callosum, Hypsarrhythmia, Impaired horizontal smooth pursuit, Infantile encephalopathy, Intellectual disability, severe, Muscular hypotonia, Neonatal onset, Neurodevelopmental delay, Obtundation status, Pschomotor retardation, Severe global developmental delay, Spastic paraplegia, Spastic tetraplegia, Status epilepticus, Tremor, Variable expressivity
nEN-early2	SEMA3A	0.718819669	2.98E-14	Ligand	BrainSpLMD|10371;BrainSpMouseDev|20109	OMIM|603961;HPO|10371|Abnormality of the voice, Anosmia, Anterior hypopituitarism, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Delayed puberty, Erectile abnormalities, Hypogonadotrophic hypogonadism, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Reduced bone mineral density
nEN-early2	CACNA1E	0.653934262	4.52E-14	Voltage gated channel	BrainSpLMD|777;Eurexp|euxassay_006436|dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|601013
nEN-early2	RP11.509E10.1	0.636449536	4.70E-14			
nEN-early2	MAPK8	0.404480424	4.97E-14	Serine/threonine kinase	BrainSpLMD|5599;Eurexp|euxassay_018521|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X;BrainSpMouseDev|26167	OMIM|601158
nEN-early2	TACC2	0.499755196	5.82E-14	Cell cycle control protein	BrainSpLMD|10579	OMIM|605302
nEN-early2	BICD1	0.644403087	6.08E-14	Transport/cargo protein	BrainSpLMD|636;Eurexp|euxassay_001764|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|11907	OMIM|602204
nEN-early2	RP11.396K3.1	0.469678729	6.28E-14			
nEN-early2	TSC22D1	0.467248774	6.94E-14	Transcription regulatory protein	BrainSpLMD|8848;BrainSpMouseDev|21566	OMIM|607715
nEN-early2	CNKSR2	0.457487879	8.17E-14	Unclassified	BrainSpLMD|22866	SFARI||Autism, 3 - Suggestive evidence;OMIM|300724;HPO|22866|Intellectual disability
nEN-early2	SEMA4D	0.714925963	8.83E-14	Integral membrane protein	BrainSpLMD|10507;BrainSpMouseDev|20117	OMIM|601866
nEN-early2	GNG4	0.917250308	9.20E-14	G protein	BrainSpLMD|2786	OMIM|604388
nEN-early2	C20orf194	0.50507078	1.01E-13	Unclassified		OMIM|614146
nEN-early2	PREX1	0.88586793	1.08E-13	Guanine nucleotide exchange factor	BrainSpLMD|57580;Eurexp|euxassay_007998|femur, humerus, mandible, mantle layer, marginal layer, maxilla, orbito-sphenoid, palatal shelf, rib, ventricular layer	SFARI||Autism, 3 - Suggestive evidence;OMIM|606905
nEN-early2	SRGAP3	0.521547946	1.42E-13	GTPase activating protein	BrainSpLMD|9901	SFARI||Autism, 4 - Minimal evidence;OMIM|606525;COSMIC||pilocytic astrocytoma
nEN-early2	KIAA1456	0.43742074	1.52E-13	Unclassified;Enzyme: Aminomethyl transferase	BrainSpLMD|57604;BrainSpMouseDev|106517	OMIM|615666
nEN-early2	IRS1	0.885275184	1.56E-13	Adapter molecule	BrainSpLMD|3667	OMIM|147545
nEN-early2	SMARCD3	1.01762846	1.68E-13	Transcription regulatory protein	BrainSpLMD|6604	OMIM|601737
nEN-early2	ELAVL2	0.327176139	2.02E-13	RNA binding protein	BrainSpLMD|1993;Eurexp|euxassay_005246|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, oesophagus, olfactory, pharynx, respiratory, retina, spinal cord, stomach, testis, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|601673
nEN-early2	JMJD1C	0.39255518	2.13E-13	Transcription regulatory protein	BrainSpLMD|221037;Eurexp|euxassay_008985|mantle layer, ventricular layer;BrainSpMouseDev|72988	SFARI||Autism, 4 - Minimal evidence;OMIM|604503;HPO|221037|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
nEN-early2	LDLRAD4	0.290723143	2.16E-13	Integral membrane protein	BrainSpLMD|753	OMIM|606571
nEN-early2	RICTOR	0.544749799	2.85E-13	Unclassified	BrainSpLMD|253260	OMIM|609022
nEN-early2	GPR137C	0.746374115	8.94E-13			
nEN-early2	GATAD2B	0.417544247	1.08E-12	Transcription regulatory protein	BrainSpLMD|57459	OMIM|614998;HPO|57459|Autosomal dominant inheritance, Blepharophimosis, Broad forehead, Deeply set eye, Hypermetropia, Hypertelorism, Inappropriate laughter, Infantile onset, Long fingers, Long toe, Neonatal hypotonia, Poor speech, Thin upper lip vermilion, Wide mouth, Wide nasal bridge
nEN-early2	APP	0.554892259	1.10E-12	Cell surface receptor	BrainSpLMD|351;BrainSpMouseDev|11607	SFARI||Autism, No category;OMIM|104760;HPO|351|Alzheimer disease, Autosomal dominant inheritance, Behavioral abnormality, Cerebellar hemorrhage, Cerebral amyloid angiopathy, Cerebral calcification, Cerebral hemorrhage, Cerebral ischemia, Coma, Dementia, Dysphagia, Febrile seizures, Gait disturbance, Global developmental delay, Headache, Heterogeneous, Intellectual disability, Long-tract signs, Memory impairment, Migraine, Myoclonus, Neurofibrillary tangles, Paresthesia, Parkinsonism, Recurrent cerebral hemorrhage, Seizures, Sensory impairment, Stroke, Tortuous cerebral arteries
nEN-early2	ADD2	0.306228574	1.11E-12	Anchor protein	BrainSpLMD|119;Eurexp|euxassay_000013|alar plate, basal plate, bladder, brain, cerebellum, cerebral cortex, diencephalon, dorsal root ganglion, facial VII, forebrain, ganglion, glossopharyngeal IX, gut, heart, lateral wall, left, liver, lobe, lung, mantle layer, marginal layer, neural retina, olfactory cortex, olfactory lobe, pons, retina, right, submandibular gland primordium, sulcus limitans, telencephalon, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	OMIM|102681
nEN-early2	PGM2L1	0.524515978	1.23E-12	Enzyme: Mutase	BrainSpLMD|283209;Eurexp|euxassay_012530|brain, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611610
nEN-early2	CHRDL1	0.849476816	1.50E-12	Secreted polypeptide	BrainSpLMD|91851	OMIM|300350
nEN-early2	TCERG1	0.345817255	1.59E-12	Transcription factor	BrainSpLMD|10915	OMIM|605409
nEN-early2	GOLGA8A	0.47344561	1.66E-12	Unclassified	BrainSpLMD|23015	OMIM|616180
nEN-early2	CHD3	0.484708263	1.68E-12	DNA binding protein	BrainSpLMD|1107	OMIM|602120
nEN-early2	TUBB3	0.419306297	1.80E-12	Structural protein	Eurexp|euxassay_015339|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, stroma, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|21909	OMIM|602661;HPO|10381|Agenesis of corpus callosum, Amblyopia, Autosomal dominant inheritance, Compensatory chin elevation, Congenital fibrosis of extraocular muscles, Congenital onset, Cortical dysplasia, Exotropia, Global developmental delay, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, moderate, Levator palpebrae superioris atrophy, Lissencephaly, Microcephaly, Muscular hypotonia of the trunk, Nonprogressive restrictive external ophthalmoplegia, Nystagmus, Phenotypic variability, Polymicrogyria, Ptosis, Spasticity, Strabismus, Superior rectus atrophy, Variable expressivity
nEN-early2	NAV1	0.297722414	1.84E-12	Unclassified	BrainSpLMD|89796;Eurexp|euxassay_015115|Meckel's cartilage, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, inferior, mantle layer, midbrain, molar, neural retina, olfactory, respiratory, spinal cord, stroma, superior, thoracic, trigeminal V, turbinate bones, vagus X, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|611628
nEN-early2	WWC1	1.132575737	2.08E-12	Unclassified	BrainSpLMD|23286	OMIM|610533
nEN-early2	NETO2	0.503744234	2.87E-12	Integral membrane protein	BrainSpLMD|81831;Eurexp|euxassay_009406|mantle layer, marginal layer	OMIM|607974
nEN-early2	HIVEP2	0.549444456	2.90E-12	DNA binding protein	BrainSpLMD|3097;Eurexp|euxassay_008979|marginal layer, mesenchyme;BrainSpMouseDev|15048	OMIM|143054;HPO|3097|Abnormal facial shape, Anxiety, Autistic behavior, Autosomal dominant inheritance, Constipation, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hyperactivity, Impulsivity, Infantile onset, Intellectual disability, Narrow mouth, Prominent nasal bridge, Tapered finger, Wide nasal bridge
nEN-early2	SETBP1	0.380661768	2.94E-12	Transcription regulatory protein	BrainSpLMD|26040	SFARI||Autism, 3 - Suggestive evidence;OMIM|611060;COSMIC||aCML, sAML, MDS/MPN-U, CMML, JMML, neuroepithelial tumours;HPO|26040|Abnormality of the nasopharynx, Absent speech, Anteverted nares, Aplasia/Hypoplasia of the pubic bone, Atrial septal defect, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bicornuate uterus, Brachycephaly, Broad ribs, Cerebral atrophy, Choanal stenosis, Coarse facial features, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Facial hemangioma, Failure to thrive, Hepatoblastoma, High forehead, High palate, Hydronephrosis, Hydroureter, Hyperconvex nail, Hypertelorism, Hypertrichosis, Hypoplasia of first ribs, Hypoplasia of the corpus callosum, Hypoplastic labia majora, Hypoplastic labia minora, Hypoplastic nipples, Hypospadias, Hypsarrhythmia, Increased density of long bones, Intellectual disability, Long clavicles, Long face, Low-set ears, Macroglossia, Malar flattening, Metopic suture patent to nasal root, Micropenis, Midface retrusion, Motor delay, Narrow palate, Opisthotonus, Pointed chin, Postaxial hand polydactyly, Postnatal growth retardation, Prominent forehead, Ptosis, Sacrococcygeal teratoma, Sclerosis of skull base, Scrotal hypoplasia, Seizures, Shallow orbits, Short 1st metacarpal, Short distal phalanx of finger, Short neck, Short nose, Short sternum, Single transverse palmar crease, Sloping forehead, Synophrys, Talipes equinovarus, Thickened cortex of long bones, Thin upper lip vermilion, Tibial bowing, Ureteral stenosis, Ventriculomegaly, Wide distal femoral metaphysis, Widely patent fontanelles and sutures, Wormian bones
nEN-early2	RNF24	0.445806244	3.72E-12	Transcription factor	BrainSpLMD|11237	OMIM|612489
nEN-early2	CECR2	0.729721693	5.04E-12	Unclassified	BrainSpLMD|27443;Eurexp|euxassay_016232|olfactory	SFARI||Autism, No category;OMIM|607576
nEN-early2	RP3.368A4.5	0.428811164	5.08E-12			
nEN-early2	KLHL24	0.395692934	5.88E-12	Unclassified	BrainSpLMD|54800;Eurexp|euxassay_004876|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V, vagus X	OMIM|611295;HPO|54800|Autosomal dominant inheritance, Diffuse palmoplantar keratoderma, Dystrophic toenail, Sparse body hair
nEN-early2	MAP6	0.431683374	6.08E-12	Cytoskeletal associated protein	BrainSpLMD|4135;Eurexp|euxassay_000634|cochlear component, dorsal root ganglion, facial VII, inferior, neural retina, olfactory, superior, trigeminal V, vestibular component	OMIM|601783
nEN-early2	ST3GAL6	0.951346873	6.89E-12	Enzyme: Sialyltransferase	BrainSpLMD|10402	OMIM|607156
nEN-early2	CEP170P1	0.360393614	7.33E-12			
nEN-early2	PHLDA1	0.57128679	7.86E-12	Transcription factor	BrainSpLMD|22822;Eurexp|euxassay_008411|anterior, axial skeleton, bladder, cartilaginous ring, cornea, diaphragm, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, hepatic duct, hindgut, incisor, inner ear, left lung, liver, mantle layer, medulla, meninges, metanephros, midgut, molar, naso-lacrimal duct, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, right lung, skeletal muscle, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, tongue, trigeminal V, ureter, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|605335
nEN-early2	ASNS	0.421419619	8.34E-12	Enzyme: Synthase	BrainSpLMD|440;Eurexp|euxassay_004453|dorsal root ganglion, facial VII, floorplate, glossopharyngeal IX, incisor, liver, lung, mantle layer, marginal layer, midgut, naso-lacrimal duct, pancreas, retina, skeletal muscle, stomach, trigeminal V, vagus X	OMIM|108370;HPO|440|Autosomal recessive inheritance, Cerebellar hypoplasia, Cortical dysplasia, Cortical gyral simplification, Cortical visual impairment, Delayed myelination, Encephalopathy, Exaggerated startle response, Failure to thrive, Feeding difficulties, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Hypsarrhythmia, Large hands, Long foot, Macrotia, Microcephaly, Micrognathia, Muscular hypotonia of the trunk, Profound global developmental delay, Progressive, Progressive microcephaly, Respiratory insufficiency, Seizures, Sloping forehead, Spastic tetraplegia, Ventriculomegaly
nEN-early2	NCS1	0.581093527	9.66E-12	Calcium binding protein	BrainSpLMD|23413	OMIM|603315
nEN-early2	GTF2I	0.36217671	1.11E-11	Transcription factor	BrainSpLMD|2969	SFARI||Autism, 4 - Minimal evidence;OMIM|601679;HPO|2969|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the neck, Anxiety, Arthralgia, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad forehead, Cerebral ischemia, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Dental malocclusion, Depressivity, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Epicanthus, Everted lower lip vermilion, Failure to thrive in infancy, Gait imbalance, Genu valgum, Hallux valgus, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Inguinal hernia, Insomnia, Intellectual disability, Joint stiffness, Kyphosis, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Microcephaly, Microdontia, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Open bite, Overfriendliness, Pelvic kidney, Periorbital edema, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Proteinuria, Protruding ear, Pulmonic stenosis, Redundant skin, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Visual impairment, Wide mouth, Wide nasal bridge
nEN-early2	PPP2R5E	0.29823153	1.27E-11	Regulatory/other subunit	BrainSpLMD|5529	OMIM|601647
nEN-early2	IGF1R	0.340590454	1.45E-11	Receptor tyrosine kinase	BrainSpLMD|3480;BrainSpMouseDev|15774	OMIM|147370;HPO|3480|Abnormal facial shape, Abnormality of the rib cage, Agitation, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Broad nasal tip, Clinodactyly, Congenital onset, Decreased body weight, Delayed skeletal maturation, Delayed speech and language development, Everted lower lip vermilion, Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}, Intellectual disability, Intrauterine growth retardation, Long philtrum, Microcephaly, Motor delay, Pectus excavatum, Radial deviation of finger, Short palm, Short stature, Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Wide intermamillary distance, Wide nasal bridge
nEN-early2	CSNK1E	0.486741503	1.82E-11	Serine/threonine kinase	BrainSpLMD|1454;Eurexp|euxassay_018818|brain, cervical, cervico-thoracic, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|27118	OMIM|600863
nEN-early2	NDRG1	0.259351707	1.85E-11	Unclassified	BrainSpLMD|10397;Eurexp|euxassay_004423|anterior, dorsal root ganglion, external, mandible, marginal layer, meninges, mesenchyme, midgut, naris, nasal septum, olfactory, palatal shelf, pyloric region, rectum, upper jaw	OMIM|605262;COSMIC||prostate;HPO|10397|Abnormal auditory evoked potentials, Abnormality of the hand, Abnormality of visual evoked potentials, Areflexia, Autosomal recessive inheritance, Axonal loss, Decreased nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Gait disturbance, Hearing impairment, Hyporeflexia, Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material, Juvenile onset, Onion bulb formation, Segmental peripheral demyelination/remyelination, Talipes cavus equinovarus
nEN-early2	RB1CC1	0.296247545	1.95E-11	Transcription factor	BrainSpLMD|9821;Eurexp|euxassay_002229|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 5 - Hypothesized but untested;OMIM|606837;HPO|9821|Autosomal dominant inheritance, Breast carcinoma, Heterogeneous
nEN-early2	PUM2	0.30403886	2.03E-11	RNA binding protein	BrainSpLMD|23369	OMIM|607205
nEN-early2	LRCH1	0.715469186	2.61E-11	Unclassified	BrainSpLMD|23143	OMIM|610368
nEN-early2	SLC29A4	0.365322798	2.79E-11	Membrane transport protein	BrainSpLMD|222962;Eurexp|euxassay_015715|choroid plexus;BrainSpMouseDev|89066	SFARI||Autism, No category;OMIM|609149
nEN-early2	GOLGA8B	0.585249353	3.05E-11	Unclassified	BrainSpLMD|440270	OMIM|609619
nEN-early2	LDOC1	0.644068034	3.39E-11	Transcription regulatory protein	BrainSpLMD|23641	OMIM|300402
nEN-early2	L1CAM	0.566198454	3.69E-11	Adhesion molecule	BrainSpLMD|3897;Eurexp|euxassay_016867|alar columns, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vagus X, ventral grey horn, ventricle, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|16500	OMIM|308840;HPO|3897|Abnormal facial shape, Absent septum pellucidum, Adducted thumb, Aganglionic megacolon, Agenesis of corpus callosum, Aphasia, Aqueductal stenosis, Camptodactyly of finger, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Corticospinal tract hypoplasia, Delayed speech and language development, Flexion contracture of thumb, Gait disturbance, Hand clenching, Hemiplegia/hemiparesis, Hydrocephalus, Hyperlordosis, Hyperreflexia, Increased intracranial pressure, Inferior vermis hypoplasia, Intellectual disability, Intellectual disability, severe, Kyphosis, Macrocephaly, Microcephaly, Muscle weakness, Partial agenesis of the corpus callosum, Pes cavus, Seizures, Short stature, Shuffling gait, Spastic paraplegia, Spasticity, Strabismus, Talipes equinovarus, Ventriculomegaly, X-linked recessive inheritance
nEN-early2	GRAMD1B	0.646084517	3.91E-11	Integral membrane protein	BrainSpLMD|57476;Eurexp|euxassay_016918|medulla, testis	
nEN-early2	TTLL7	0.300901526	4.67E-11	Enzyme: Ligase	BrainSpLMD|79739	
nEN-early2	MPRIP.AS1	0.273749012	4.70E-11			
nEN-early2	ACAP3	0.609878141	5.45E-11	Unclassified	BrainSpLMD|116983	
nEN-early2	GTF2IRD2	0.638953675	7.11E-11	Transcription factor	BrainSpLMD|84163	OMIM|608899
nEN-early2	CLVS1	0.71682174	7.25E-11	Unclassified	BrainSpLMD|157807	OMIM|611292
nEN-early2	RUFY2	0.391067732	7.63E-11	Unclassified	BrainSpLMD|55680	OMIM|610328
nEN-early2	RP11.631M6.2	0.278173276	1.33E-10			
nEN-early2	AFF3	0.389956971	1.67E-10	Transcription factor	BrainSpLMD|3899;BrainSpMouseDev|16536	OMIM|601464;COSMIC||ALL, T-ALL
nEN-early2	USP3	0.387256728	2.08E-10	Ubiquitin proteasome system protein	BrainSpLMD|9960	OMIM|604728
nEN-early2	CAP2	0.573830711	2.10E-10	Unclassified	BrainSpLMD|10486;Eurexp|euxassay_002560|diaphragm, head mesenchyme, marginal layer, tongue, vertebral axis muscle system	
nEN-early2	PPP2R1B	0.695608507	2.16E-10	Regulatory/other subunit;Serine/threonine phosphatase	BrainSpLMD|5519;Eurexp|euxassay_012306|incisor, mantle layer, molar, submandibular gland primordium, thymus primordium	SFARI||Autism, 4 - Minimal evidence;OMIM|603113;HPO|5519|Alveolar cell carcinoma, Autosomal recessive inheritance
nEN-early2	FOXN3	0.462673935	2.39E-10	Cell cycle control protein	BrainSpLMD|1112;BrainSpMouseDev|47216	OMIM|602628
nEN-early2	SMS	0.629755381	2.41E-10	Enzyme: Synthase	Eurexp|euxassay_011541|cervical, cervico-thoracic, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, incisor, left lung, mantle layer, metanephros, molar, neural retina, right lung, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|300105;HPO|6611|Abnormality of the pinna, Bifid uvula, Broad-based gait, Cleft palate, Cryptorchidism, Decreased muscle mass, Dental crowding, Dysarthria, Facial asymmetry, Generalized hypotonia, High, narrow palate, Hyperextensibility of the finger joints, Hypertelorism, Intellectual disability, Kyphoscoliosis, Long fingers, Long hallux, Long palm, Mandibular prognathia, Narrow palm, Nasal speech, Osteoporosis, Pectus carinatum, Pectus excavatum, Phenotypic variability, Recurrent fractures, Seizures, Severe Myopia, Short philtrum, Short stature, Talipes equinovarus, Tall stature, Thick lower lip vermilion, Webbed neck, Wide intermamillary distance, X-linked recessive inheritance
nEN-early2	BMS1P1	0.822412691	2.41E-10		BrainSpLMD|399761	
nEN-early2	AC068522.4	0.250736242	2.45E-10			
nEN-early2	DPYSL5	0.480327829	2.79E-10	Unclassified	BrainSpLMD|56896;BrainSpMouseDev|41755	OMIM|608383
nEN-early2	JUP	0.645404417	3.10E-10	Adhesion molecule	BrainSpLMD|3728;Eurexp|euxassay_013744|bladder, dorsal root ganglion, epidermis, epithelium, facial VII, glossopharyngeal IX, incisor, larynx, midgut, molar, neural retina, olfactory, oral epithelium, pharyngo-tympanic tube, rectum, stomach, submandibular gland primordium, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|173325;HPO|3728|Acantholysis, Alopecia, Anonychia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cardiomegaly, Cardiomyopathy, Cleft upper lip, Congestive heart failure, Curly hair, Dilated cardiomyopathy, Epidermal acanthosis, Episodes of ventricular tachycardia, Fragile skin, Heterogeneous, Hyperhidrosis, Nail dystrophy, Onycholysis, Oral mucosal blisters, Palmoplantar keratoderma, Right ventricular cardiomyopathy, Skin erosion, Sparse and thin eyebrow, Sparse scalp hair, Sudden death, Syncope, Ventricular arrhythmia, Ventricular tachycardia, Vertigo, Woolly hair
nEN-early2	ELAVL3	0.331131809	3.52E-10	RNA binding protein	BrainSpLMD|1995	SFARI||Autism, 3 - Suggestive evidence;OMIM|603458
nEN-early2	NUDT4	0.447755916	3.80E-10	Unclassified	BrainSpLMD|11163	OMIM|609229
nEN-early2	NCKAP1	0.551705112	4.07E-10	Integral membrane protein	BrainSpLMD|10787;Eurexp|euxassay_009378|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|30368	SFARI||Autism, 2 - Strong candidate;OMIM|604891
nEN-early2	FOXN2	0.461208655	4.76E-10	DNA binding protein	BrainSpLMD|3344;Eurexp|euxassay_019499|incisor, liver, lung, mandible, mantle layer, marginal layer, maxilla, molar, submandibular gland primordium, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|14013	OMIM|143089
nEN-early2	ARPP21	0.3391533	5.00E-10		BrainSpLMD|10777;Eurexp|euxassay_008422|brain, diaphragm, dorsal grey horn, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, head mesenchyme, lip, mantle layer, marginal layer, mesenchyme, olfactory, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, spinal cord, tail, thymus primordium, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|605488
nEN-early2	QSER1	0.322322473	6.20E-10	Unclassified	BrainSpLMD|79832	
nEN-early2	TOP2B	0.254623671	6.67E-10	Enzyme: Topoisomerase	BrainSpLMD|7155	OMIM|126431
nEN-early2	ERC2	0.393241618	7.43E-10	Cytoskeletal associated protein	BrainSpLMD|26059;Eurexp|euxassay_003848|adenohypophysis, adrenal gland, bladder, brain, cervical, cervico-thoracic, dermis, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, lung, metanephros, midgut, oesophagus, olfactory, retina, spinal cord, stomach, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|617250
nEN-early2	LHX2	0.332156316	8.18E-10	Transcription regulatory protein	BrainSpLMD|9355;BrainSpMouseDev|16641	OMIM|603759
nEN-early2	ATP8A2	0.724873397	8.32E-10	ATPase	BrainSpLMD|51761;Eurexp|euxassay_009705|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605870;HPO|51761|Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Cerebral palsy, Congenital onset, Corpus callosum atrophy, Dysarthria, Gait disturbance, Hyperreflexia, Inability to walk, Intellectual disability, Muscular hypotonia, Seizures, Short stature, Skeletal muscle atrophy, Strabismus, Truncal ataxia
nEN-early2	EPHA7	0.422319478	8.34E-10	Receptor tyrosine kinase	BrainSpLMD|2045;Eurexp|euxassay_008884|eyelid, incisor, lip, lung, mantle layer, mesenchyme, metanephros, metatarsus, molar, palatal shelf, penis, phalanx, saccule, tongue, trigeminal V, urethra, valve;BrainSpMouseDev|13619	OMIM|602190;COSMIC||CRC, melanoma
nEN-early2	FOXO3	0.410548583	8.69E-10	Transcription factor	BrainSpLMD|2309;Eurexp|euxassay_019517|hindgut, liver, lung, midgut, stomach, submandibular gland primordium, thymus primordium, vibrissa;BrainSpMouseDev|35764	OMIM|602681;COSMIC||AL
nEN-early2	RC3H1	0.393208387	8.69E-10	Ubiquitin proteasome system protein		OMIM|609424
nEN-early2	SLC4A7	0.491664184	1.18E-09	Transport/cargo protein	BrainSpLMD|9497	OMIM|603353
nEN-early2	BRAF	0.317847099	1.33E-09	Serine/threonine kinase	BrainSpLMD|673	SFARI||Autism, No category;OMIM|164757;COSMIC||melanoma, colorectal, papillary thyroid, borderline ovarian, NSCLC, cholangiocarcinoma, pilocytic astrocytoma, Spitzoid tumour, pancreas acinar carcinoma, melanocytic nevus, prostate, gastric, Cardio-facio-cutaneous syndrome;HPO|673|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal hypothalamus morphology, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormal visual field test, Abnormality of coagulation, Abnormality of the aortic valve, Abnormality of the mitral valve, Abnormality of the pulmonary artery, Abnormality of the spleen, Abnormality of the ulna, Abnormality of vision, Absent eyebrow, Absent eyelashes, Alveolar cell carcinoma, Amegakaryocytic thrombocytopenia, Anterior creases of earlobe, Anteverted nares, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the eyebrow, Arrhythmia, Atopic dermatitis, Atrial septal defect, Atrioventricular canal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Biparietal narrowing, Bitemporal hemianopia, Brachydactyly, Brittle hair, Bronchogenic cyst, Bulbous nose, Bundle branch block, Cavernous hemangioma, Central adrenal insufficiency, Central diabetes insipidus, Cerebral calcification, Cerebral cortical atrophy, Clinodactyly, Clinodactyly of the 5th finger, Coarctation of aorta, Coarse facial features, Coarse hair, Cognitive impairment, Congenital onset, Constipation, Cryptorchidism, Cubitus valgus, Curly hair, Cystic hygroma, Decreased fertility, Deep palmar crease, Deep philtrum, Delayed skeletal maturation, Dental malocclusion, Depressed nasal bridge, Dolichocephaly, Downslanted palpebral fissures, Dry skin, Dysarthria, Dysphagia, Dystrophic fingernails, EEG abnormality, Enlarged pituitary gland, Enlarged thorax, Epicanthus, Excessive daytime somnolence, Excessive wrinkled skin, Failure to thrive, Failure to thrive in infancy, Feeding difficulties in infancy, Fine hair, Freckling, Frontal bossing, Full cheeks, Gastroesophageal reflux, Generalized hyperpigmentation, Generalized hypotonia, Global developmental delay, Growth delay, Headache, Hearing impairment, Hepatomegaly, Heterogeneous, High forehead, High palate, High, narrow palate, Hydrocephalus, Hydronephrosis, Hyperextensibility of the finger joints, Hyperextensible skin, Hyperkeratosis, Hypertelorism, Hypertonia, Hypertrophic cardiomyopathy, Hypogonadotrophic hypogonadism, Hypomelanotic macule, Hypoplasia of the frontal lobes, Hypoplasia of the zygomatic bone, Ichthyosis, Intellectual disability, Intracranial cystic lesion, Intrauterine growth retardation, Joint hyperflexibility, Kyphoscoliosis, Long face, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Lymphedema, Macrocephaly, Macrotia, Male infertility, Melanocytic nevus, Micrognathia, Midface retrusion, Mitral valve prolapse, Multiple cafe-au-lait spots, Multiple lentigines, Multiple palmar creases, Multiple plantar creases, Muscle weakness, Muscular hypotonia, Myopia, Narrow forehead, Nausea and vomiting, Neonatal hypotonia, Neoplasm of the anterior pituitary, Neurofibrosarcoma, Numerous nevi, Nystagmus, Obesity, Oculomotor apraxia, Open bite, Open mouth, Optic nerve dysplasia, Osteolysis, Osteopenia, Palmoplantar keratoderma, Papilledema, Papule, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pectus excavatum of inferior sternum, Pituitary hypothyroidism, Polyhydramnios, Poor suck, Posteriorly rotated ears, Postnatal growth retardation, Premature birth, Progressive visual field defects, Progressive visual loss, Prolactin excess, Prominent forehead, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Radial deviation of finger, Reduced factor XII activity, Reduced factor XIII activity, Relative macrocephaly, Scapular winging, Scoliosis, Seizures, Sensorineural hearing impairment, Severe sensorineural hearing impairment, Shield chest, Short neck, Short nose, Short stature, Skin nodule, Slow decrease in visual acuity, Slow-growing hair, Sparse hair, Sparse or absent eyelashes, Splenomegaly, Sprengel anomaly, Strabismus, Submucous cleft hard palate, Superior pectus carinatum, Synovitis, Tetralogy of Fallot, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Tongue thrusting, Triangular face, Underdeveloped supraorbital ridges, Ventricular septal defect, Vomiting, Webbed neck, Wide intermamillary distance, Wide nasal bridge
nEN-early2	MTMR12	0.921956315	1.46E-09	Adapter molecule	BrainSpLMD|54545	OMIM|606501
nEN-early2	SYCP2	0.379595499	1.77E-09	DNA binding protein	BrainSpLMD|10388	OMIM|604105
nEN-early2	FGFR2	0.653090148	1.93E-09	Receptor tyrosine kinase	BrainSpLMD|2263;BrainSpMouseDev|13960	OMIM|176943;COSMIC||gastric, NSCLC, endometrial, Crouzon, Pfeiffer, and Apert syndromes;HPO|2263|2-3 finger syndactyly, 2-3 toe syndactyly, Abnormal facial shape, Abnormal heart morphology, Abnormal morphology of the limbic system, Abnormal renal morphology, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the cervical spine, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the palate, Abnormality of the pancreas, Abnormality of the periosteum, Abnormality of the pinna, Abnormality of the ribs, Absence of Stensen duct, Absent first metatarsal, Absent lacrimal punctum, Absent proximal phalanx of thumb, Absent radius, Absent septum pellucidum, Acanthosis nigricans, Acne, Acrobrachycephaly, Agenesis of corpus callosum, Alacrima, Anomalous tracheal cartilage, Anteriorly placed anus, Anteverted nares, Aplasia of the parotid gland, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Arachnodactyly, Arachnoid cyst, Arnold-Chiari malformation, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bicoronal synostosis, Bifid scrotum, Bifid uvula, Bilateral single transverse palmar creases, Bilateral triphalangeal thumbs, Blepharospasm, Brachycephaly, Brachydactyly, Brachyturricephaly, Breast carcinoma, Broad distal hallux, Broad distal phalanx of the thumb, Broad forehead, Broad hallux, Broad hallux phalanx, Broad metatarsal, Broad thumb, Bronchomalacia, Buphthalmos, Calcaneonavicular fusion, Camptodactyly, Camptodactyly of finger, Carious teeth, Cartilaginous trachea, Cerebellar hypoplasia, Cervical C5/C6 vertebrae fusion, Choanal atresia, Choanal stenosis, Chronic otitis media, Cleft of chin, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Cloverleaf skull, Conductive hearing impairment, Congenital stationary night blindness, Conical incisor, Conjunctivitis, Convex nasal ridge, Corneal perforation, Coronal craniosynostosis, Coronal hypospadias, Craniofacial dysostosis, Craniosynostosis, Cryptorchidism, Cupped ear, Cutaneous finger syndactyly, Dacryocystitis, Decreased calvarial ossification, Delayed cranial suture closure, Delayed eruption of primary teeth, Delayed eruption of teeth, Dental crowding, Dental malocclusion, Depressed nasal bridge, Deviation of the thumb, Dolichocephaly, Downslanted palpebral fissures, Dysgerminoma, Ectopic anus, Elbow ankylosis, Esophageal atresia, External ear malformation, Extramedullary hematopoiesis, Facial asymmetry, Feeding difficulties in infancy, Femoral bowing, Finger syndactyly, Flat face, Flat forehead, Frontal bossing, Fused labia minora, Gingival overgrowth, Global developmental delay, Growth abnormality, Hallux valgus, Hallux varus, Hearing abnormality, Hearing impairment, High forehead, High palate, Hirsutism, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hyperextensible skin, Hyperlordosis, Hypertelorism, Hypertension, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the lacrimal puncta, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplasia of the zygomatic bone, Hypoplastic ischia, Hypoplastic labia majora, Hypoplastic lacrimal duct, Incomplete ossification of pubis, Increased intracranial pressure, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Joint stiffness, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Lambdoidal craniosynostosis, Large fontanelles, Laryngomalacia, Limitation of joint mobility, Limited elbow extension, Long nose, Long philtrum, Low anterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Malar flattening, Mandibular prognathia, Megalencephaly, Megalocornea, Melanocytic nevus, Metopic depression, Micrognathia, Microtia, Midface retrusion, Mixed hearing impairment, Morphological abnormality of the semicircular canal, Multiple suture craniosynostosis, Narrow chest, Narrow internal auditory canal, Narrow nose, Narrow palate, Narrow pelvis bone, Nasolacrimal duct obstruction, Natal tooth, Nephrosclerosis, Open bite, Optic atrophy, Osteopenia, Overfolding of the superior helices, Overriding aorta, Oxycephaly, Palmoplantar cutis gyrata, Palmoplantar cutis laxa, Palmoplantar keratoderma, Parietal foramina, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of the distal phalanx of the 3rd finger, Partial duplication of thumb phalanx, Periorbital fullness, Plagiocephaly, Posterior fossa cyst, Preauricular skin furrow, Preaxial polydactyly, Prominent crus of helix, Prominent nasal bridge, Prominent scrotal raphe, Proptosis, Ptosis, Pyloric stenosis, Radial deviation of the 3rd finger, Radioulnar synostosis, Recurrent corneal erosions, Reduced number of teeth, Renal agenesis, Respiratory distress, Rocker bottom foot, Sagittal craniosynostosis, Seizures, Shallow orbits, Short clavicles, Short foot, Short hallux, Short metatarsal, Short middle phalanx of toe, Short nose, Short palm, Short stature, Shortening of all middle phalanges of the fingers, Skull asymmetry, Sleep apnea, Small hand, Small nail, Small thenar eminence, Somatic mutation, Steep acetabular roof, Stenosis of the external auditory canal, Stomach cancer, Strabismus, Subcutaneous nodule, Syndactyly, Synostosis of carpal bones, Telecanthus, Toe syndactyly, Tracheomalacia, Turricephaly, Ulnar bowing, Underdeveloped supraorbital ridges, Upper airway obstruction, Vaginal atresia, Variable expressivity, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide anterior fontanel, Xerostomia
nEN-early2	SEMA6D	0.509419003	2.09E-09	Membrane bound ligand	BrainSpLMD|80031;Eurexp|euxassay_010735|dorsal root ganglion, embryo, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|84750	OMIM|609295
nEN-early2	ADCYAP1R1	0.905477952	2.12E-09	G protein coupled receptor	BrainSpLMD|117;Eurexp|euxassay_009317|brain, cervical, cervico-thoracic, medulla, mesenchyme, midgut, oesophagus, spinal cord, stomach, thoracic, tongue, trigeminal V, ventricle, ventricular layer;BrainSpMouseDev|11304	OMIM|102981
nEN-early2	PDHA1	0.515604642	2.14E-09	Enzyme: Dehydrogenase	BrainSpLMD|5160	OMIM|300502;HPO|5160|Abnormality of eye movement, Agenesis of corpus callosum, Anteverted nares, Apneic episodes precipitated by illness, fatigue, stress, Basal ganglia cysts, Cerebral atrophy, Choreoathetosis, Chronic lactic acidosis, Decreased activity of the pyruvate dehydrogenase complex, Dystonia, Episodic ataxia, Flared nostrils, Frontal bossing, Generalized hypotonia, Global developmental delay, Hyperalaninemia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lethargy, Long philtrum, Microcephaly, Phenotypic variability, Ptosis, Seizures, Severe lactic acidosis, Small for gestational age, Ventriculomegaly, Wide nasal bridge, X-linked dominant inheritance
nEN-early2	SYP	1.255227641	2.41E-09	Transport/cargo protein	BrainSpLMD|6855	OMIM|313475;HPO|6855|Intellectual disability, X-linked dominant inheritance
nEN-early2	HIVEP3	0.251613589	2.94E-09	Transcription regulatory protein	BrainSpLMD|59269;BrainSpMouseDev|16428	SFARI||Autism, 3 - Suggestive evidence;OMIM|606649
nEN-early2	SNCAIP	0.433965116	3.11E-09	Unclassified	BrainSpLMD|9627	OMIM|603779;HPO|9627|Bradykinesia, Constipation, Dementia, Depressivity, Dysarthria, Dysphagia, Dystonia, Insidious onset, Lewy bodies, Mask-like facies, Neuronal loss in central nervous system, Parkinsonism, Personality changes, Postural instability, Progressive, Resting tremor, Rigidity, Short stepped shuffling gait, Sleep disturbance, Sporadic, Substantia nigra gliosis, Urinary urgency, Weak voice
nEN-early2	USP22	0.26255683	3.24E-09	Unclassified	Eurexp|euxassay_000296|alar plate, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral wall, lens, medulla oblongata, meninges, metencephalon, neural retina, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612116
nEN-early2	ZMIZ1	0.365536984	4.36E-09	Unclassified	BrainSpLMD|57178	OMIM|607159
nEN-early2	FAM19A5	0.690359263	5.55E-09	Chemokine	BrainSpLMD|25817;Eurexp|euxassay_011592|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, marginal layer, spinal cord, trigeminal V, vagus X	OMIM|617499
nEN-early2	PHF20L1	0.33154546	6.16E-09	Unclassified	BrainSpLMD|51105	
nEN-early2	SLC4A10	0.480868693	6.53E-09	Membrane transport protein	BrainSpLMD|57282;Eurexp|euxassay_019732|choroid plexus, olfactory lobe	SFARI||Autism, 4 - Minimal evidence;OMIM|605556
nEN-early2	SPIN1	0.356881256	8.40E-09	Unclassified	BrainSpLMD|10927	OMIM|609936
nEN-early2	WDFY3	0.451080585	9.54E-09	Unclassified	BrainSpLMD|23001;Eurexp|euxassay_010172|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 2 - Strong candidate;OMIM|617485
nEN-early2	FNBP1	0.430260113	9.78E-09	Unclassified	BrainSpLMD|23048;Eurexp|euxassay_002195|bladder, diencephalon, dorsal root ganglion, hindbrain, midbrain, spinal cord, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|606191;COSMIC||AML
nEN-early2	SCG5	0.263281347	1.12E-08	Chaperone	BrainSpLMD|6447;Eurexp|euxassay_007348|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, oesophagus, olfactory, pituitary, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20157	OMIM|173120
nEN-early2	GPHN	0.605307898	1.32E-08	Anchor protein;Unclassified	BrainSpLMD|10243;Eurexp|euxassay_000272|marginal layer, ventral grey horn	SFARI||Autism, 3 - Suggestive evidence;OMIM|603930;COSMIC||AL;HPO|10243|Apnea, Aspiration, Autosomal dominant inheritance, Autosomal recessive inheritance, Exaggerated startle response, Feeding difficulties, Frequent falls, Generalized tonic-clonic seizures, Hip dislocation, Hyperreflexia, Hypertonia, Hypokinesia, Infantile onset, Inguinal hernia, Molybdenum cofactor deficiency, Muscular hypotonia of the trunk, Myoclonus, Polymicrogyria, Poor eye contact, Poor head control, Seizures, Spontaneous abortion, Umbilical hernia
nEN-early2	RP5.1085F17.3	0.392013028	1.52E-08			
nEN-early2	SHANK2	0.311650188	1.90E-08	Structural protein	BrainSpLMD|22941	SFARI||Autism, 2 - Strong candidate;OMIM|603290
nEN-early2	DNAH10	0.788435802	1.99E-08	Cytoskeletal protein	BrainSpLMD|196385	SFARI||Autism, No category;OMIM|605884
nEN-early2	USP46	0.796223974	2.29E-08	Ubiquitin proteasome system protein	BrainSpLMD|64854	OMIM|612849
nEN-early2	VEZT	0.354383655	2.40E-08	Adhesion molecule	BrainSpLMD|55591;Eurexp|euxassay_005115|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, naris, olfactory, respiratory, retina, spinal cord, trigeminal V, vestibulocochlear VIII	
nEN-early2	GPR161	0.592751095	2.49E-08	G protein coupled receptor	BrainSpLMD|23432;BrainSpMouseDev|88778	OMIM|612250;HPO|23432|Delayed puberty, Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypoplasia of penis, Hypothyroidism, Short stature
nEN-early2	DISP2	0.401975319	2.53E-08	Integral membrane protein	BrainSpLMD|85455;Eurexp|euxassay_009571|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, neural retina, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607503
nEN-early2	PPP1R9A	0.416153875	2.85E-08	Cytoskeletal associated protein	Eurexp|euxassay_012258|choroid plexus, mantle layer, skeletal muscle, ventricular layer	OMIM|602468
nEN-early2	ZNF84	0.550307065	3.06E-08	DNA binding protein	BrainSpLMD|7637	
nEN-early2	SECISBP2	0.438126489	3.13E-08	RNA binding protein	BrainSpLMD|79048	OMIM|607693;HPO|79048|Autosomal recessive inheritance, Delayed skeletal maturation, Increased thyroid-stimulating hormone level
nEN-early2	RP11.296E7.1	0.346464813	3.53E-08			
nEN-early2	B4GALT5	0.456896912	3.66E-08	Enzyme: Galactosyltransferase	BrainSpLMD|9334;Eurexp|euxassay_010321|basal columns, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, larynx, mantle layer, olfactory, stomach, trigeminal V, vagus X, valve	OMIM|604016
nEN-early2	BAIAP2.AS1	0.5368534	4.48E-08			
nEN-early2	LPPR1	0.254766594	4.49E-08			
nEN-early2	ZNF124	0.671059803	4.52E-08	DNA binding protein	BrainSpLMD|7678	OMIM|194631
nEN-early2	CALCOCO1	0.419885544	4.62E-08	Transcription regulatory protein	BrainSpLMD|57658;Eurexp|euxassay_006214|thymus primordium	
nEN-early2	STRBP	0.271521613	4.84E-08	RNA binding protein	BrainSpLMD|55342;Eurexp|euxassay_012970|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|611138
nEN-early2	CCSER1	0.268505072	5.63E-08	Unclassified	BrainSpLMD|401145;Eurexp|euxassay_016073|cervical, cervico-thoracic, facial VII, glossopharyngeal IX, mantle layer, marginal layer, metanephros, thoracic, trachea	
nEN-early2	ARIH1	0.362527566	6.12E-08	Ubiquitin proteasome system protein	BrainSpLMD|25820	OMIM|605624
nEN-early2	TGFBR1	0.489153131	7.50E-08	Receptor serine/threonine kinase	BrainSpLMD|7046;Eurexp|euxassay_018304|olfactory, vomeronasal organ;BrainSpMouseDev|21571	OMIM|190181;HPO|7046|Abnormality of the iris, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Arachnodactyly, Arterial dissection, Arterial tortuosity, Ascending aortic dissection, Atypical scarring of skin, Bifid uvula, Blue sclerae, Camptodactyly of finger, Cardiomegaly, Chest pain, Coronary artery disease, Craniosynostosis, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Exertional dyspnea, High palate, Hypertelorism, Hypertension, Left ventricular failure, Malar flattening, Micrognathia, Oral cleft, Paroxysmal dyspnea, Patent ductus arteriosus, Pes planus, Scoliosis, Striae distensae, Tall stature, Uterine rupture
nEN-early2	KIF3C	0.446701648	8.19E-08	Motor protein	BrainSpLMD|3797;Eurexp|euxassay_010971|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602845
nEN-early2	PHKB	0.384015445	1.09E-07	Unclassified	BrainSpLMD|5257	OMIM|172490;HPO|5257|Autosomal recessive inheritance, Diarrhea, Generalized hypotonia, Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content, Muscle weakness, Muscular hypotonia, Short stature
nEN-early2	SSBP3	0.275725492	1.17E-07	DNA binding protein	BrainSpLMD|23648	OMIM|607390
nEN-early2	KHDRBS1	0.254192313	1.22E-07	RNA binding protein	BrainSpLMD|10657	OMIM|602489
nEN-early2	STX6	0.342521789	1.29E-07	Membrane transport protein	BrainSpLMD|10228	OMIM|603944
nEN-early2	ZNF195	0.308931467	1.65E-07	Transcription factor	BrainSpLMD|7748	OMIM|602187
nEN-early2	ST8SIA2	0.327350027	1.79E-07	Enzyme: Sialyltransferase	BrainSpLMD|8128	SFARI||Autism, No category;OMIM|602546
nEN-early2	ZDHHC8P1	0.535922199	1.79E-07		BrainSpLMD|150244	
nEN-early2	EPHA4	0.34391928	2.09E-07	Receptor tyrosine kinase	BrainSpLMD|2043;BrainSpMouseDev|13616	OMIM|602188;HPO|2043|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
nEN-early2	DPP6	0.425050397	2.11E-07	Membrane transport protein	BrainSpLMD|1804;Eurexp|euxassay_004610|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, intervertebral disc, neural retina, olfactory, pelvis, spinal cord, stroma, trigeminal V, vagus X, vertebral cartilage condensation, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|126141;HPO|1804|Alternating esotropia, Amblyopia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Chorioretinal degeneration, Decreased body weight, Delayed skeletal maturation, Intellectual disability, Microcephaly, Reduced number of teeth, Scoliosis, Short stature
nEN-early2	ATP6V0A1	0.346515188	2.12E-07	Ion channel	BrainSpLMD|535	OMIM|192130
nEN-early2	ANK3	0.361101043	2.16E-07	Adapter molecule	BrainSpLMD|288;BrainSpMouseDev|11522	SFARI||Autism, No category;OMIM|600465;HPO|288|Aggressive behavior, Autosomal recessive inheritance, Bruxism, Generalized hypotonia, Hyperactivity, Intellectual disability, Intellectual disability, moderate, Spasticity
nEN-early2	SLIT2	0.389202478	3.54E-07	Ligand	BrainSpLMD|9353;BrainSpMouseDev|20325	OMIM|603746
nEN-early2	SCN3A	0.411914543	3.56E-07	Voltage gated channel	BrainSpLMD|6328	OMIM|182391
nEN-early2	STARD4.AS1	0.327695758	4.17E-07			
nEN-early2	GPR125	0.409186363	4.35E-07			
nEN-early2	RP11.312J18.5	0.450524609	4.77E-07			
nEN-early2	EVL	0.37597016	5.98E-07	Cytoskeletal protein	BrainSpLMD|51466;BrainSpMouseDev|13803	OMIM|616912
nEN-early2	SMG1P1	0.279649071	6.00E-07			
nEN-early2	UBE2Q2P2	0.48516879	6.18E-07			
nEN-early2	AHDC1	0.267112149	6.34E-07	DNA binding protein;Unclassified	BrainSpLMD|27245	SFARI||Autism, 3 - Suggestive evidence;OMIM|615790;HPO|27245|Autosomal dominant inheritance, Cortical gyral simplification, Delayed myelination, Depressed nasal bridge, Downslanted palpebral fissures, Esotropia, Failure to thrive, Generalized hypotonia, Global developmental delay, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Laryngomalacia, Low-set ears, Micrognathia, Obstructive sleep apnea, Snoring, Uplifted earlobe, Upslanted palpebral fissure
nEN-early2	RPL7AP6	0.648772732	6.37E-07			
nEN-early2	BAI3	0.286812538	6.66E-07			
nEN-early2	SREBF2	0.295717455	6.95E-07	Transcription factor	BrainSpLMD|6721;BrainSpMouseDev|20550	OMIM|600481
nEN-early2	TP53BP1	0.373095348	7.65E-07	Transcription regulatory protein	BrainSpLMD|7158;Eurexp|euxassay_012562|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|605230
nEN-early2	RAPGEF2	0.291650954	7.91E-07	Guanine nucleotide exchange factor	BrainSpLMD|9693;Eurexp|euxassay_014449|olfactory	OMIM|609530
nEN-early2	CNTNAP2	0.29965299	8.88E-07	Adhesion molecule	BrainSpLMD|26047;Eurexp|euxassay_011473|facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V	SFARI||Autism, 2 - Strong candidate;OMIM|604569;COSMIC||glioma, melanoma;HPO|26047|Cortical dysplasia, Delayed gross motor development, Hyperactivity, Impaired social interactions, Intellectual disability, Progressive language deterioration, Reduced tendon reflexes, Seizures
nEN-early2	KDM1A	0.49306869	8.94E-07	Enzyme: Deacetylase;Transcription regulatory protein	BrainSpLMD|23028	OMIM|609132;HPO|23028|Abnormal vertebral morphology, Autosomal dominant inheritance, Frontal bossing, Generalized hypotonia, Highly arched eyebrow, Lower limb hypertonia, Motor delay, Short thumb, Tapered finger
nEN-early2	GNAI1	0.397795542	9.63E-07	G protein	BrainSpLMD|2770;Eurexp|euxassay_009056|dorsal root ganglion	OMIM|139310
nEN-early2	GDAP1L1	0.691876283	1.07E-06	Integral membrane protein	BrainSpLMD|78997;Eurexp|euxassay_011524|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	
nEN-early2	ZFP37	0.628935596	1.22E-06	Transcription regulatory protein	BrainSpLMD|7539	OMIM|602951
nEN-early2	SH3PXD2A	0.679097642	1.23E-06	Adapter molecule	BrainSpLMD|9644;Eurexp|euxassay_012261|clavicle, meninges, mesenchyme, skeletal muscle, ventricular layer	
nEN-early2	HS6ST1	0.682464675	1.29E-06	Enzyme: Sulphotransferase	Eurexp|euxassay_006185|bladder, brain, calyces, cochlea, dorsal root ganglion, epithelium, facial VII, ganglion, glossopharyngeal IX, incisor, left lung, liver, marginal layer, midgut, molar, neural retina, olfactory, oral epithelium, pancreas, paraxial mesenchyme, pelvis, pharyngo-tympanic tube, primitive seminiferous tubules, rectum, rest of mesenchyme, retina, right lung, skeletal muscle, spinal cord, stomach, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, ureter, urethra, utricle, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|604846;HPO|9394|Abnormality of body height, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Anosmia, Anterior hypopituitarism, Anxiety, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Depressivity, Erectile abnormalities, Eunuchoid habitus, Female hypogonadism, Gynecomastia, Hypogonadotrophic hypogonadism, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Increased female libido, Male hypogonadism, Micropenis, Non-obstructive azoospermia, Osteopenia, Osteoporosis, Primary amenorrhea, Reduced bone mineral density, Secondary amenorrhea, Sparse body hair, Wide intermamillary distance
nEN-early2	MEIS3	0.681602442	1.41E-06	Transcription regulatory protein	BrainSpLMD|56917;BrainSpMouseDev|17304	
nEN-early2	MATR3	0.445278167	1.48E-06	RNA binding protein	BrainSpLMD|9782	OMIM|164015;HPO|9782|Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Abnormality of the nasopharynx, Adult onset, Amyotrophic lateral sclerosis, Anxiety, Aspiration, Autosomal dominant inheritance, Bowing of the vocal cords, Bulbar palsy, Bulbar signs, Decreased nerve conduction velocity, Depressivity, Distal muscle weakness, Dysarthria, Dysphagia, Dyspnea, Elevated serum creatine phosphokinase, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Hoarse voice, Hyperreflexia, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Respiratory insufficiency due to muscle weakness, Rimmed vacuoles, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Spasticity, Variable expressivity, Xerostomia
nEN-early2	SEC63	0.359799529	1.53E-06	Transport/cargo protein	BrainSpLMD|11231	OMIM|608648;HPO|11231|Abdominal distention, Abnormality of the cardiovascular system, Abnormality of the nervous system, Adult onset, Ascites, Autosomal dominant inheritance, Back pain, Hepatic cysts, Hepatomegaly, Increased total bilirubin, Multiple renal cysts, Polycystic liver disease, Renal cyst
nEN-early2	ZNF33B	0.400918582	1.64E-06			OMIM|194522
nEN-early2	LPPR4	0.457041907	1.69E-06			
nEN-early2	CELSR3	0.292033675	1.96E-06	Adhesion molecule	BrainSpLMD|1951;Eurexp|euxassay_007152|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, olfactory, spinal cord, telencephalon, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|72096	OMIM|604264
nEN-early2	KIF3A	0.251768871	1.99E-06	Motor protein	BrainSpLMD|11127	OMIM|604683
nEN-early2	GLCE	0.693379839	2.11E-06	Enzyme: Epimerase	BrainSpLMD|26035;Eurexp|euxassay_014583|lip	OMIM|612134
nEN-early2	ICA1L	0.475649063	2.39E-06	Unclassified	BrainSpLMD|130026	
nEN-early2	SPTBN2	0.548400807	2.74E-06	Cytoskeletal associated protein	BrainSpLMD|6712	OMIM|604985;HPO|6712|Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Cognitive impairment, Delayed speech and language development, Dysarthria, Dysdiadochokinesis, Dysmetria, Facial myokymia, Gait ataxia, Gait disturbance, Gaze-evoked nystagmus, Global developmental delay, Hyperreflexia, Impaired smooth pursuit, Impaired vibratory sensation, Incoordination, Infantile onset, Intention tremor, Limb ataxia, Slow progression, Slurred speech
nEN-early2	RABGAP1	0.364570299	3.27E-06	GTPase activating protein	BrainSpLMD|23637	OMIM|615882
nEN-early2	SFXN3	0.631055392	3.31E-06	Integral membrane protein	BrainSpLMD|81855	OMIM|615571
nEN-early2	USP9Y	0.821906315	3.55E-06	Ubiquitin proteasome system protein	BrainSpLMD|8287	SFARI||Autism, No category;OMIM|400005;HPO|8287|Azoospermia, Decreased testicular size, Male infertility, Non-obstructive azoospermia, Oligospermia, Y-linked inheritance
nEN-early2	HYDIN2	0.537094412	3.58E-06			OMIM|610813
nEN-early2	NUMBL	0.356807845	3.62E-06	Unclassified	BrainSpLMD|9253;BrainSpMouseDev|17990	OMIM|604018
nEN-early2	ME2	0.399443132	3.68E-06	Enzyme: Decarboxylase	BrainSpLMD|4200;Eurexp|euxassay_000082|clavicle, dorsal root ganglion, frontal bone primordium, mandible, nucleus pulposus, physiological umbilical hernia, rib, skeleton, thymus primordium, tooth, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|154270
nEN-early2	CYFIP2	0.382220693	3.71E-06	Unclassified	BrainSpLMD|26999;Eurexp|euxassay_012077|Meckel's cartilage, basioccipital bone, basisphenoid bone, brain, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, olfactory, orbito-sphenoid, pelvic girdle, respiratory, rib, scapula, spinal cord, temporal bone, tibia, trigeminal V, turbinate, vestibulocochlear VIII, vomeronasal organ	OMIM|606323
nEN-early2	CTNNA2	0.470446408	3.88E-06	Cytoskeletal protein	BrainSpLMD|1496;Eurexp|euxassay_011120|anterior, anterior abdominal wall, brain, cervical, cervico-thoracic, dermal component, dermis, dorsal root ganglion, facial VII, facial bones primordia, glossopharyngeal IX, inner ear, left lung, lip, medulla, midgut, molar, neural retina, oesophagus, olfactory, primitive seminiferous tubules, rectum, right lung, spinal cord, stomach, thoracic, thymus primordium, thyroid, tongue, trigeminal V, vagus X, valve, vestibulocochlear VIII, vomeronasal organ	OMIM|114025;COSMIC||gastric cancer
nEN-early2	FSD1L	0.477288995	4.81E-06	Unclassified	BrainSpLMD|83856	OMIM|609829
nEN-early2	LUC7L	0.381977663	4.82E-06	Unclassified	BrainSpLMD|55692	OMIM|607782
nEN-early2	RP11.408P14.1	0.668726292	4.92E-06			
nEN-early2	RNU6.957P	0.427207977	4.93E-06			
nEN-early2	KLHL7	0.378841561	5.31E-06	Unclassified	BrainSpLMD|55975;Eurexp|euxassay_011530|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611119;HPO|55975|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Pallor, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
nEN-early2	ARPC5	0.389129164	5.36E-06	Cytoskeletal associated protein	BrainSpLMD|10092;Eurexp|euxassay_005699|embryo	OMIM|604227
nEN-early2	USP31	0.61089117	6.02E-06	Ubiquitin proteasome system protein	BrainSpLMD|57478	
nEN-early2	KLHL28	0.309695677	6.08E-06	Unclassified	BrainSpLMD|54813;Eurexp|euxassay_002559|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, stroma, trigeminal V, vestibulocochlear VIII	
nEN-early2	KIAA1549	0.269795257	6.20E-06	Unclassified	BrainSpLMD|57670;Eurexp|euxassay_013378|brain, cartilaginous ring, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, metanephros, molar, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613344;COSMIC||pilocytic astrocytoma
nEN-early2	POLR2B	0.391471519	6.60E-06	RNA polymerase	BrainSpLMD|5431;Eurexp|euxassay_019551|incisor, liver, lung, metanephros, midgut, molar, neural retina, olfactory, pancreas, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|87230	OMIM|180661
nEN-early2	PDE9A	0.32635922	6.82E-06	Enzyme: Phosphodiesterase	BrainSpLMD|5152;Eurexp|euxassay_005191|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, epithelium, glossopharyngeal IX, incisor, limb, lung, mesenchyme, metanephros, midgut, molar, naris, olfactory, oral epithelium, rectum, retina, spinal cord, stomach, submandibular gland primordium, tail, trigeminal V, vestibulocochlear VIII	OMIM|602973
nEN-early2	ELMO1	0.361614664	7.16E-06	Unclassified;Motor protein	BrainSpLMD|9844;Eurexp|euxassay_012546|floor plate, floorplate, mantle layer, marginal layer, vibrissa	OMIM|606420
nEN-early2	FAM107B	0.51256037	7.25E-06	Unclassified	BrainSpLMD|83641;Eurexp|euxassay_000675|thymus primordium	
nEN-early2	PPP2R3A	0.462295441	7.36E-06	Serine/threonine phosphatase;Regulatory/other subunit	BrainSpLMD|5523;Eurexp|euxassay_012481|skeletal muscle, ventricle, vertebral axis muscle system	OMIM|604944
nEN-early2	EFNB2	0.548938964	7.38E-06	Membrane bound ligand	BrainSpLMD|1948;Eurexp|euxassay_018950|bladder, incisor, lung, mantle layer, mesenchyme, metanephros, molar, oesophagus, pericardium, submandibular gland primordium, urethra, ventricular layer, vibrissa;BrainSpMouseDev|13420	OMIM|600527
nEN-early2	ZNF135	0.422107961	7.63E-06	Transcription regulatory protein	BrainSpLMD|7694	OMIM|604077
nEN-early2	PAFAH1B1	0.349252621	7.71E-06	Enzyme: Hydrolase	Eurexp|euxassay_017952|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, skeleton, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|18238	SFARI||Autism, 5 - Hypothesized but untested;OMIM|601545;HPO|5048|Abnormality of the cardiovascular system, Abnormality of the cerebral white matter, Abnormality of upper lip, Anteverted nares, Cerebellar hypoplasia, Cerebral cortical atrophy, Downslanted palpebral fissures, EEG abnormality, Epicanthus, Frontal bossing, Global developmental delay, Growth delay, Heterotopia, High forehead, Hypertelorism, Hypoplasia of the brainstem, Intellectual disability, Lissencephaly, Low-set ears, Muscular hypotonia, Muscular hypotonia of the trunk, Narrow mouth, Pachygyria, Polyhydramnios, Postnatal microcephaly, Seizures, Short neck, Short nose, Spastic tetraparesis, Sporadic, Variable expressivity, Ventriculomegaly, Wide nose
nEN-early2	ZNF8	0.758599455	7.89E-06	Transcription regulatory protein	BrainSpLMD|7554	SFARI||Autism, 5 - Hypothesized but untested;OMIM|194532
nEN-early2	BTF3L4	0.305002699	8.58E-06	Unclassified	BrainSpLMD|91408;Eurexp|euxassay_006570|embryo	
nEN-early2	ORC4	0.259456503	8.59E-06	DNA binding protein	BrainSpLMD|5000	OMIM|603056;HPO|5000|Abnormality of epiphysis morphology, Abnormality of the ribs, Anotia, Aplastic clavicles, Atresia of the external auditory canal, Autosomal recessive inheritance, Birth length less than 3rd percentile, Breast hypoplasia, Bronchomalacia, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Craniosynostosis, Cryptorchidism, Delayed skeletal maturation, Dolichocephaly, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, High pitched voice, High, narrow palate, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Microtia, Microtia, third degree, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Respiratory distress, Respiratory failure, Retrognathia, Severe short stature, Slender long bone, Smooth philtrum, Tracheomalacia, Underdeveloped nasal alae
nEN-early2	RNF144A	0.671404818	8.79E-06	Ubiquitin proteasome system protein	BrainSpLMD|9781	
nEN-early2	PTPRO	0.317070249	9.81E-06	Receptor tyrosine phosphatase	BrainSpLMD|5800;Eurexp|euxassay_000528|cerebral cortex, corpus striatum, hypothalamus, lateral wall, marginal layer, olfactory cortex, testis	OMIM|600579;HPO|5800|Autosomal recessive inheritance, Edema, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Variable expressivity
nEN-early2	ZNF280D	0.336454534	1.09E-05	Transcription regulatory protein	BrainSpLMD|54816;Eurexp|euxassay_012797|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, retina, spinal cord, trigeminal V, vagus X	
nEN-early2	ARFGEF1	0.348890153	1.09E-05	Guanine nucleotide exchange factor	BrainSpLMD|10565	OMIM|604141
nEN-early2	USP49	0.471817166	1.32E-05	Cysteine protease	BrainSpLMD|25862	
nEN-early2	KCTD6	0.491408293	1.33E-05	Ion channel	BrainSpLMD|200845;Eurexp|euxassay_003600|dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vibrissa	
nEN-early2	TSTD2	0.344039044	1.48E-05	Unclassified	BrainSpLMD|158427	
nEN-early2	ZNF506	0.528271034	1.49E-05	Transcription factor	BrainSpLMD|440515	
nEN-early2	NLN	0.392599772	1.51E-05	Metallo protease	BrainSpLMD|57486	OMIM|611530
nEN-early2	CDC42EP3	0.316096087	1.67E-05	GTPase	BrainSpLMD|10602	OMIM|606133
nEN-early2	RP11.134K13.2	0.282063087	1.68E-05			
nEN-early2	MTF2	0.259221078	1.71E-05	Transcription regulatory protein	BrainSpLMD|22823;BrainSpMouseDev|17532	OMIM|609882
nEN-early2	MCTP1	0.474254517	1.76E-05	Calcium binding protein	BrainSpLMD|79772	OMIM|616296
nEN-early2	MORC3	0.320432673	2.05E-05	RNA binding protein	BrainSpLMD|23515	OMIM|610078
nEN-early2	CAMKV	0.392146326	2.11E-05	Unclassified	BrainSpLMD|79012;Eurexp|euxassay_007008|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, phalanx, spinal cord	OMIM|614993
nEN-early2	MAP3K13	0.332076286	2.20E-05	Serine/threonine kinase	BrainSpLMD|9175;Eurexp|euxassay_014094|dorsal grey horn, mantle layer	OMIM|604915;COSMIC||breast
nEN-early2	AP000962.2	0.552596303	2.44E-05			
nEN-early2	INADL	0.704776887	2.44E-05			SFARI||Autism, No category
nEN-early2	BRD3	0.290672985	2.97E-05	Transcription regulatory protein	BrainSpLMD|8019	OMIM|601541;COSMIC||lethal midline carcinoma of young people
nEN-early2	ST6GAL1	0.405009553	3.06E-05	Enzyme: Sialyltransferase	BrainSpLMD|6480	OMIM|109675
nEN-early2	TRO	0.40574072	3.10E-05	Integral membrane protein	BrainSpLMD|7216	OMIM|300132
nEN-early2	CCDC50	0.254515858	3.21E-05	Unclassified	BrainSpLMD|152137	OMIM|611051;HPO|152137|Autosomal dominant inheritance, Sensorineural hearing impairment
nEN-early2	SIAH1	0.3518355	3.47E-05	Ubiquitin proteasome system protein	BrainSpLMD|6477	OMIM|602212
nEN-early2	SCAPER	0.31674162	4.27E-05	DNA binding protein	BrainSpLMD|49855	OMIM|611611
nEN-early2	UHRF1BP1L	0.561280105	4.36E-05	Unclassified	BrainSpLMD|23074	
nEN-early2	LRPPRC	0.258888606	4.41E-05	RNA binding protein	BrainSpLMD|10128	SFARI||Autism, No category;OMIM|607544;HPO|10128|Anteverted nares, Ataxia, Autosomal recessive inheritance, CNS demyelination, Delayed speech and language development, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Highly arched eyebrow, Hirsutism, Hyperglycemia, Hypertelorism, Hypoglycemia, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased serum lactate, Infantile onset, Lactic acidosis, Low anterior hairline, Malar flattening, Microvesicular hepatic steatosis, Midface retrusion, Peripheral demyelination, Prominent forehead, Strabismus, Tachypnea, Tremor, Wide nasal bridge
nEN-early2	KIAA0430	0.44996056	4.46E-05			
nEN-early2	STAG3	0.429592	4.83E-05	Unclassified	BrainSpLMD|10734	OMIM|608489;HPO|10734|Autosomal recessive inheritance, Increased circulating gonadotropin level, Premature ovarian insufficiency, Primary amenorrhea
nEN-early2	MYEF2	0.360498892	4.85E-05	Transcription regulatory protein	BrainSpLMD|50804;Eurexp|euxassay_001436|liver, otic capsule, vertebral axis muscle system	
nEN-early2	ZNF33A	0.431713243	5.07E-05	Transcription factor	BrainSpLMD|7581	OMIM|194521
nEN-early2	KIAA0232	0.424695405	5.21E-05	Unclassified	BrainSpLMD|9778	
nEN-early2	EPHB1	0.349853685	6.16E-05	Receptor tyrosine kinase	BrainSpLMD|2047;Eurexp|euxassay_018955|floorplate, mantle layer, marginal layer, mesenchyme, neural retina, ventricular layer;BrainSpMouseDev|92948	OMIM|600600
nEN-early2	YTHDF2	0.337745024	6.48E-05	Unclassified	BrainSpLMD|51441	OMIM|610640
nEN-early2	RSF1	0.257830347	7.31E-05	Transcription regulatory protein	BrainSpLMD|51773	OMIM|608522
nEN-early2	RLIM	0.279270982	7.56E-05	Transcription regulatory protein	BrainSpLMD|51132;Eurexp|euxassay_006673|embryo	SFARI||Autism, No category;OMIM|300379;HPO|51132|Behavioral abnormality, Broad forehead, Cryptorchidism, Feeding difficulties, Fine hair, Global developmental delay, Hypertelorism, Intellectual disability, Microcephaly, Micrognathia, Poor speech, Prominent nose, Wide nasal bridge, X-linked recessive inheritance
nEN-early2	PDP1	0.59617896	7.85E-05	Serine/threonine phosphatase	BrainSpLMD|54704	OMIM|605993;HPO|54704|Autosomal recessive inheritance, Decreased activity of the pyruvate dehydrogenase complex, Dysphagia, Gait ataxia, Generalized hypotonia, Global developmental delay, Infantile onset, Intellectual disability, Lactic acidosis, Nystagmus, Seizures
nEN-early2	CERK	0.31191223	7.98E-05	Lipid Kinase	BrainSpLMD|64781;Eurexp|euxassay_018568|dorsal root ganglion, glossopharyngeal IX, trigeminal V;BrainSpMouseDev|85972	OMIM|610307
nEN-early2	TSPAN14	0.275004032	8.02E-05	Integral membrane protein	BrainSpLMD|81619;Eurexp|euxassay_007132|embryo	
nEN-early2	AKAP6	0.290858152	8.05E-05	Anchor protein	BrainSpLMD|9472;Eurexp|euxassay_011440|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, meninges, neural retina, olfactory, skeletal muscle, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vomeronasal organ	OMIM|604691
nEN-early2	MKLN1	0.26639832	8.39E-05	Adhesion molecule	BrainSpLMD|4289	OMIM|605623
nEN-early2	RP11.452L6.1	0.37657281	9.38E-05			
nEN-early2	AGO1	0.268695636	0.000101288	Translation regulatory protein	BrainSpLMD|26523;Eurexp|euxassay_012863|facial VII, incisor, mantle layer, marginal layer, molar, neural retina, olfactory, trigeminal V, ventricular layer	OMIM|606228
nEN-early2	NTRK3	0.409681481	0.000101952	Receptor tyrosine kinase	BrainSpLMD|4916;Eurexp|euxassay_017897|corpus striatum, dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|17980	SFARI||Autism, 4 - Minimal evidence;OMIM|191316;COSMIC||congenital fibrosarcoma, secretory breast
nEN-early2	EIF1B	0.252780813	0.000110101	Translation regulatory protein	BrainSpLMD|10289;Eurexp|euxassay_011475|mantle layer, ventricular layer	
nEN-early2	PRRG3	0.327008942	0.000117563	Integral membrane protein	BrainSpLMD|79057	OMIM|300685
nEN-early2	NOL4	0.531058235	0.000122786	Unclassified	BrainSpLMD|8715;Eurexp|euxassay_008266|brain, neural retina, olfactory, spinal cord	OMIM|603577
nEN-early2	MTMR3	0.566008418	0.000124959	Dual specificity phosphatase	BrainSpLMD|8897;Eurexp|euxassay_000219|liver, nasal capsule, nervous system, otic capsule	OMIM|603558
nEN-early2	PLEKHA1	0.285987879	0.000130608	Adapter molecule	BrainSpLMD|59338;Eurexp|euxassay_013789|brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, left lung, neural retina, olfactory, primitive seminiferous tubules, right lung, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607772
nEN-early2	DDX10	0.432824866	0.000131084	RNA binding protein	BrainSpLMD|1662	OMIM|601235;COSMIC||AML*
nEN-early2	FBXL20	0.313925771	0.000134123	Ubiquitin proteasome system protein	BrainSpLMD|84961	OMIM|609086
nEN-early2	ZNF766	0.417927721	0.00013457	DNA binding protein		
nEN-early2	VASH2	0.472152982	0.000164351	Unclassified	BrainSpLMD|79805	OMIM|610471
nEN-early2	MCF2L	0.320607999	0.000172089	Guanine nucleotide exchange factor	BrainSpLMD|23263	OMIM|609499
nEN-early2	PDE10A	0.354427058	0.000188787	Enzyme: Phosphodiesterase	BrainSpLMD|10846;Eurexp|euxassay_000057|alar plate, basal plate, cerebellum, cerebral cortex, dorsal root ganglion, epithalamus, facial VII, floor plate, floorplate, glossopharyngeal IX, lateral wall, mantle layer, neural retina, pons, roof plate, spinal cord, tegmentum, telencephalon, thalamus, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|23735	OMIM|610652;HPO|10846|Abnormality of the striatum, Autosomal dominant inheritance, Autosomal recessive inheritance, Chorea, Drooling, Dysarthria, Dyskinesia, Frequent falls, Hyperkinesis, Infantile onset, Intellectual disability, Mental deterioration, Motor delay, Muscular hypotonia of the trunk, Nonprogressive, Orofacial dyskinesia, Parkinsonism, Seizures, Unsteady gait
nEN-early2	NARF	0.325964701	0.000206719	Unclassified	BrainSpLMD|26502;Eurexp|euxassay_013636|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, lobe, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|605349
nEN-early2	IRGQ	0.474861102	0.000212065	Unclassified		
nEN-early2	C11orf30	0.470932307	0.000226421			SFARI||Autism, 3 - Suggestive evidence
nEN-early2	PRRC2B	0.371558336	0.000233789	Unclassified	BrainSpLMD|84726;Eurexp|euxassay_012252|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vomeronasal organ	
nEN-early2	NAB1	0.439280173	0.000272564	Transcription regulatory protein	BrainSpLMD|4664;Eurexp|euxassay_019676|bladder;BrainSpMouseDev|17703	OMIM|600800
nEN-early2	DGCR8	0.563258404	0.000287353	Unclassified	BrainSpLMD|54487	OMIM|609030;COSMIC||Wilms tumour;HPO|54487|Abnormality of the ear, Abnormality of the endocrine system, Abnormality of the hand, Aggressive behavior, Autosomal dominant inheritance, Blepharophimosis, Bulbous nose, Cleft palate, Hypocalcemia, Inguinal hernia, Intellectual disability, Microcephaly, Mood swings, Muscular hypotonia, Nasal speech, Open mouth, Paranoia, Pierre-Robin sequence, Posterior embryotoxon, Recurrent infections, Retinal vascular tortuosity, Retrognathia, Right aortic arch with mirror image branching, Short stature, Specific learning disability, Tetralogy of Fallot, Umbilical hernia, Underdeveloped nasal alae, Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Ventricular septal defect
nEN-early2	EPS8	0.339034725	0.000287764	Adapter molecule	BrainSpLMD|2059;Eurexp|euxassay_004434|adrenal gland, lung, mantle layer, marginal layer, mesenchyme, metanephros, midgut, nasal septum, pancreas, rectum, testis, thymus primordium, turbinate bones	SFARI||Autism, No category;OMIM|600206;HPO|2059|Autosomal recessive inheritance, Congenital onset, Profound hearing impairment
nEN-early2	YEATS2	0.34209021	0.000295265	Unclassified	BrainSpLMD|55689	SFARI||Autism, No category;OMIM|613373
nEN-early2	LAMB1	0.474462614	0.000304069	Extracellular matrix protein	BrainSpLMD|3912;Eurexp|euxassay_011018|cochlea, incisor, lung, meninges, metanephros, midgut, molar, pharyngo-tympanic tube, renal/urinary system, sublingual gland primordium, submandibular gland primordium, vibrissa;BrainSpMouseDev|16549	SFARI||Autism, 3 - Suggestive evidence;OMIM|150240;HPO|3912|Abnormality of the cerebral white matter, Autosomal recessive inheritance, Cerebellar hypoplasia, Generalized hypotonia, Gray matter heterotopias, Hydrocephalus, Hypoplasia of the brainstem, Intellectual disability, Leukoencephalopathy, Macrocephaly, Muscular hypotonia, Occipital encephalocele, Porencephalic cyst, Progressive, Seizures, Severe global developmental delay, Spastic paraplegia, Type II lissencephaly, Variable expressivity
nEN-early2	ZNF627	0.491043758	0.000310357	Transcription regulatory protein	BrainSpLMD|199692	OMIM|612248
nEN-early2	ACACA	0.318129998	0.000322456	Enzyme: Carboxylase	BrainSpLMD|31;Eurexp|euxassay_018925|axial muscle, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mantle layer, midgut, neural retina, oesophagus, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|200350;HPO|31|Autosomal recessive inheritance, Generalized hypotonia, Growth delay, Myopathy
nEN-early2	ATXN7L3B	0.304311177	0.000342967	-	BrainSpLMD|552889	OMIM|615579
nEN-early2	ZNF587	0.450586109	0.000352219	Transcription regulatory protein	BrainSpLMD|84914	
nEN-early2	SPATS2	0.314004742	0.000359148	Unclassified	BrainSpLMD|65244	OMIM|611667
nEN-early2	PUM1	0.330638172	0.00035965	RNA binding protein	BrainSpLMD|9698	OMIM|607204
nEN-early2	CREBBP	0.321992682	0.000368047	Transcription regulatory protein	BrainSpLMD|1387;BrainSpMouseDev|12697	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600140;COSMIC||ALL, AML, DLBCL, B-NHL, Rubinstein-Taybi syndrome;HPO|1387|Abnormal number of teeth, Abnormality of refraction, Abnormality of the cervical spine, Abnormality of the cornea, Abnormality of the kidney, Abnormality of the pinna, Aganglionic megacolon, Agenesis of corpus callosum, Agoraphobia, Arrhythmia, Atrial septal defect, Autism, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Bifid uterus, Bimanual synkinesia, Broad hallux, Broad thumb, Cafe-au-lait spot, Capillary hemangiomas, Cataract, Chorioretinal dystrophy, Clinodactyly of the 5th finger, Coloboma, Constipation, Convex nasal ridge, Cryptorchidism, Deeply set eye, Delayed cranial suture closure, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Dental malocclusion, Deviated nasal septum, Dislocated radial head, Downslanted palpebral fissures, Duane anomaly, Duplication of phalanx of hallux, EEG abnormality, Epicanthus, Facial grimacing, Failure to thrive, Feeding difficulties in infancy, Flared iliac wings, Flexion contracture, Frontal bossing, Frontal upsweep of hair, Generalized hypotonia, Glaucoma, Hearing impairment, Heterogeneous, High axial triradius, High palate, Highly arched eyebrow, Hirsutism, Hyperactivity, Hyperreflexia, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Hypoplastic iliac wing, Hypospadias, Impulsivity, Intellectual disability, Joint hypermobility, Joint laxity, Keloids, Large foramen magnum, Laryngomalacia, Long eyelashes, Low anterior hairline, Low hanging columella, Low posterior hairline, Low-set ears, Microcephaly, Micrognathia, Muscular hypotonia, Narrow mouth, Narrow palate, Nasolacrimal duct obstruction, Obstructive sleep apnea, Papillary cystadenoma of the epididymis, Parietal foramina, Patellar dislocation, Patent ductus arteriosus, Pectus excavatum, Pes planus, Phonophobia, Plantar crease between first and second toes, Polydactyly, Polyhydramnios, Poor coordination, Postnatal growth retardation, Premature thelarche, Prominent fingertip pads, Proptosis, Ptosis, Radial deviation of thumb terminal phalanx, Recurrent upper respiratory tract infections, Respiratory distress, Retrognathia, Scoliosis, Seizures, Self-mutilation, Shawl scrotum, Short attention span, Short stature, Single transverse palmar crease, Spina bifida occulta, Sporadic, Stereotypy, Strabismus, Syndactyly, Talon cusp, Tethered cord, Thick eyebrow, Truncal obesity, Unsteady gait, Variable expressivity, Vascular ring, Ventricular septal defect, Wide anterior fontanel, Wide nasal bridge
nEN-early2	CSRNP2	0.354427923	0.000375686	Unclassified	BrainSpLMD|81566	
nEN-early2	BSN	0.365076173	0.000411086	Transcription factor	BrainSpLMD|8927;Eurexp|euxassay_008029|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|604020
nEN-early2	BHLHB9	0.41130719	0.000427346	Transcription regulatory protein	BrainSpLMD|80823;Eurexp|euxassay_012088|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, brain, dorsal root ganglion, exoccipital bone, facial VII, fibula, glossopharyngeal IX, humerus, neural retina, orbito-sphenoid, otic capsule, pelvic girdle, rib, scapula, spinal cord, submandibular gland primordium, temporal bone, tibia, trigeminal V, turbinate, vagus X	OMIM|300921
nEN-early2	PAPOLG	0.318268281	0.000445657	RNA polymerase	BrainSpLMD|64895	OMIM|616865
nEN-early2	TM2D3	0.407718945	0.000453219	Integral membrane protein	BrainSpLMD|80213	OMIM|610014
nEN-early2	SMURF2	0.258710212	0.000465227	Ubiquitin proteasome system protein	BrainSpLMD|64750	OMIM|605532
nEN-early2	MAP3K4	0.258674717	0.000473061	Serine/threonine kinase	BrainSpLMD|4216	OMIM|602425
nEN-early2	LARP1	0.309822753	0.000478818	Unclassified;Ribonucleoprotein	BrainSpLMD|23367	OMIM|612059
nEN-early2	DYNLT1	0.276284497	0.000484069	Unclassified	BrainSpLMD|6993;Eurexp|euxassay_007062|embryo	OMIM|601554
nEN-early2	C6ORF174	0.494462573	0.000496083			
nEN-early2	PAK1	0.367124383	0.000500654	Serine/threonine kinase	BrainSpLMD|5058;Eurexp|euxassay_018852|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, incisor, mandible, maxilla, midbrain, molar, neural retina, spinal cord, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|18245	OMIM|602590
nEN-early2	SVIL	0.373065638	0.000501357	Cytoskeletal associated protein	BrainSpLMD|6840;Eurexp|euxassay_011675|epidermis, exoccipital bone, meninges, midgut, pharyngo-tympanic tube, skeletal muscle, stomach, vibrissa	OMIM|604126
nEN-early2	SNHG8	0.359612013	0.000511506			
nEN-early2	TADA1	0.393810709	0.00051929	DNA binding protein	BrainSpLMD|117143	OMIM|612763
nEN-early2	AMFR	0.324445351	0.000526403	Ubiquitin proteasome system protein	BrainSpLMD|267;Eurexp|euxassay_003433|left, right	OMIM|603243
nEN-early2	SHOC2	0.515162793	0.000540258	Adapter molecule	BrainSpLMD|8036;Eurexp|euxassay_004370|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	OMIM|602775;HPO|8036|Anteverted nares, Aplasia/Hypoplasia of the eyebrow, Atrial septal defect, Autosomal dominant inheritance, Deep philtrum, Delayed skeletal maturation, Epicanthus, Hydrocephalus, Hyperactivity, Hypertelorism, Hypertrophic cardiomyopathy, Intellectual disability, Loose anagen hair, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Pectus excavatum, Polyhydramnios, Posteriorly rotated ears, Prominent forehead, Pulmonic stenosis, Short neck, Short nose, Short stature, Sparse scalp hair, Strabismus, Ventricular septal defect, Webbed neck
nEN-early2	RAB33B	0.268756313	0.00056152	GTPase	BrainSpLMD|83452	OMIM|605950;HPO|83452|Autosomal recessive inheritance, Barrel-shaped chest, Broad femoral neck, Broad phalanx, Decreased body weight, Disproportionate short-trunk short stature, Flattened femoral head, Genu valgum, Hypoplasia of the odontoid process, Pectus carinatum, Pes planus, Platyspondyly, Short metacarpal, Short metatarsal, Short neck, Short phalanx of finger
nEN-early2	PLXNA3	0.702059615	0.00062205	Cytoskeletal associated protein	BrainSpLMD|55558;BrainSpMouseDev|18610	SFARI||Autism, 4 - Minimal evidence;OMIM|300022
nEN-early2	MED23	0.31254461	0.000631795	Transcription regulatory protein	BrainSpLMD|9439;Eurexp|euxassay_005743|embryo	OMIM|605042;HPO|9439|Autosomal recessive inheritance, Intellectual disability
nEN-early2	ZNF333	0.466231609	0.000644537	DNA binding protein	BrainSpLMD|84449	OMIM|611811
nEN-early2	NINL	0.321820056	0.000680235	Calcium binding protein	BrainSpLMD|22981;Eurexp|euxassay_005501|left, right	SFARI||Autism, 3 - Suggestive evidence;OMIM|609580
nEN-early2	KRR1	0.426115723	0.000693375	DNA binding protein	BrainSpLMD|11103;Eurexp|euxassay_000275|axial skeleton, head mesenchyme, lung, oesophagus	SFARI||Autism, 4 - Minimal evidence;OMIM|612817
nEN-early2	RSBN1L	0.251882235	0.000697756	Unclassified	BrainSpLMD|222194	
nEN-early2	STAM	0.317693417	0.000735608	Adapter molecule	BrainSpLMD|8027	OMIM|601899
nEN-early2	ZNF562	0.31938825	0.000736327	Unclassified	BrainSpLMD|54811	
nEN-early2	C2CD5	0.39342252	0.000746582	Unclassified	BrainSpLMD|9847	
nEN-early2	CADM2	0.258177865	0.000749419	Adhesion molecule	BrainSpLMD|253559;Eurexp|euxassay_011528|basioccipital bone, femur, humerus, mantle layer, midbrain, orbito-sphenoid, pelvic girdle, petrous part, scapula, trigeminal V, turbinate	SFARI||Autism, No category;OMIM|609938
nEN-early2	AC004057.1	0.381857831	0.000776644			
nEN-early2	BSDC1	0.416853792	0.000814863	Unclassified	BrainSpLMD|55108	OMIM|617518
nEN-early2	ZKSCAN1	0.252200168	0.000832044	Transcription regulatory protein	BrainSpLMD|7586;Eurexp|euxassay_012753|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, olfactory, spinal cord, trigeminal V, vagus X;BrainSpMouseDev|50411	OMIM|601260
nEN-early2	RAD54L2	0.472416495	0.000865825	DNA binding protein	BrainSpLMD|23132	
nEN-early2	ANTXR1	0.276496474	0.000898649	Cell surface receptor	BrainSpLMD|84168	OMIM|606410;HPO|84168|Abnormal form of the vertebral bodies, Abnormality of metabolism/homeostasis, Abnormality of pelvic girdle bone morphology, Abnormality of the cerebral vasculature, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the palate, Alopecia, Anteverted nares, Autosomal recessive inheritance, Breast hypoplasia, Broad forehead, Delayed cranial suture closure, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Early balding, Everted lower lip vermilion, Frontal bossing, Glaucoma, Growth delay, High forehead, Hyperextensible skin, Hypertelorism, Hypoplastic nipples, Hypotrichosis, Joint hyperflexibility, Keratoconus, Long philtrum, Low-set ears, Mandibular prognathia, Micrognathia, Midface retrusion, Nystagmus, Optic atrophy, Palpebral edema, Prematurely aged appearance, Prominent scalp veins, Protruding ear, Short stature, Skin tags, Sparse and thin eyebrow, Sparse eyelashes, Thick lower lip vermilion, Thick nasal alae, Tubulointerstitial fibrosis, Umbilical hernia, Underdeveloped supraorbital ridges, Unerupted tooth, Visual impairment, Wide anterior fontanel
nEN-early2	GSE1	0.332617667	0.000917805	Unclassified	BrainSpLMD|23199	OMIM|616886
nEN-early2	SCN8A	0.410751762	0.000920045	Voltage gated channel	BrainSpLMD|6334;Eurexp|euxassay_001982|brain, calyces, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nucleus pulposus, pelvis, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|600702;HPO|6334|Abnormality of vision, Ataxia, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Choreoathetosis, Cognitive impairment, Deeply set eye, Developmental regression, Dysesthesia, Dyskinesia, Epileptic encephalopathy, Epileptic spasms, Focal seizures, Generalized hypotonia, Generalized seizures, Generalized tonic-clonic seizures, Global developmental delay, Hypertonia, Intellectual disability, Microcephaly, Migraine, Muscular hypotonia, Myoclonus, Normal interictal EEG, Paroxysmal choreoathetosis, Paroxysmal dyskinesia, Progressive microcephaly, Reduced consciousness/confusion, Seizures
nEN-early2	EPB41L5	0.378300609	0.001007087	Cytoskeletal associated protein	BrainSpLMD|57669;Eurexp|euxassay_014313|calyces, left lung, pelvis, right lung, thymus primordium, thyroid	OMIM|611730
nEN-early2	ZPR1	0.347466393	0.001008372	Adapter molecule	BrainSpLMD|8882;Eurexp|euxassay_009271|embryo	OMIM|603901
nEN-early2	HECA	0.49577128	0.001019412	Unclassified	BrainSpLMD|51696	OMIM|607977
nEN-early2	CCDC112	0.271978494	0.001039549	Unclassified	BrainSpLMD|153733	
nEN-early2	EIF2B3	0.55280684	0.001051979	Translation regulatory protein	BrainSpLMD|8891	OMIM|606273;HPO|8891|Autosomal recessive inheritance, CNS demyelination, Cerebral hypomyelination, Cessation of head growth, Decreased circulating progesterone, Delusions, Developmental regression, Dysarthria, Emotional lability, Generalized hypotonia, Juvenile onset, Lethargy, Leukoencephalopathy, Macrocephaly, Memory impairment, Optic atrophy, Personality changes, Premature ovarian insufficiency, Primary gonadal insufficiency, Secondary amenorrhea, Seizures, Spasticity, Unsteady gait
nEN-early2	MLXIP	0.262820133	0.001066069	Transcription factor	BrainSpLMD|22877;Eurexp|euxassay_016215|mandible, maxilla, orbito-sphenoid, rib;BrainSpMouseDev|83930	OMIM|608090
nEN-early2	SNRNP40	0.324951844	0.001086261	RNA binding protein	BrainSpLMD|9410;Eurexp|euxassay_006151|cortex, liver, lung, metanephros, submandibular gland primordium	OMIM|607797
nEN-early2	MTMR6	0.277610274	0.001111006	Lipid phosphatase	BrainSpLMD|9107;Eurexp|euxassay_008326|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|603561
nEN-early2	VASH1	0.402435329	0.001138025	Growth inhibitory factor	BrainSpLMD|22846;Eurexp|euxassay_009040|dorsal root ganglion, glossopharyngeal IX, marginal layer, trigeminal V, vagus X	SFARI||Autism, 4 - Minimal evidence;OMIM|609011
nEN-early2	EEF1A1P13	0.294056687	0.001147582			
nEN-early2	ZNF518B	0.268923598	0.001179131	Unclassified		OMIM|617734
nEN-early2	ORC2	0.268968257	0.001238635	DNA binding protein	BrainSpLMD|4999	OMIM|601182
nEN-early2	ZNF300	0.380337548	0.001267442	DNA binding protein	BrainSpLMD|91975	OMIM|612429
nEN-early2	FAM32A	0.305192514	0.001290265	Unclassified	BrainSpLMD|26017	OMIM|614554
nEN-early2	ZNF160	0.456552809	0.001295732	DNA binding protein	BrainSpLMD|90338	OMIM|600398
nEN-early2	APLP1	0.340411411	0.001594794	Transcription regulatory protein;Unclassified	BrainSpLMD|333;Eurexp|euxassay_005371|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, male, nasal septum, neural retina, olfactory, respiratory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|11590	OMIM|104775
nEN-early2	GLTSCR1L	0.784043127	0.001776562			
nEN-early2	MAPRE2	0.272196548	0.001802773	Cytoskeletal associated protein	BrainSpLMD|10982;Eurexp|euxassay_007836|cervical, cervico-thoracic, dorsal root ganglion, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|605789;HPO|10982|Autosomal dominant inheritance, Broad neck, Carious teeth, Cleft palate, Cryptorchidism, Delayed speech and language development, Downslanted palpebral fissures, Edema, Epicanthus, Flat face, Generalized hypotonia, Hypoplasia of the corpus callosum, Hypospadias, Increased number of skin folds, Irregular hyperpigmentation, Low-set ears, Microcornea, Micrognathia, Microphthalmia, Microtia, Motor delay, Narrow mouth, Posteriorly rotated ears, Scrotal hypoplasia, Seizures, Short neck, Short palpebral fissure, Thickened skin, Upslanted palpebral fissure
nEN-early2	SSX2IP	0.570355544	0.001859406	Adhesion molecule	BrainSpLMD|117178	OMIM|608690
nEN-early2	LONRF1	0.578071175	0.001889999	Ubiquitin proteasome system protein	BrainSpLMD|91694	
nEN-early2	NT5C3A	0.38973143	0.001924074	Enzyme: Hydrolase	BrainSpLMD|51251;Eurexp|euxassay_006605|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, left, right, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606224;HPO|51251|Autosomal recessive inheritance, Hemoglobinuria, Hemolytic anemia
nEN-early2	RANBP9	0.270577135	0.001955438	Cytoskeletal associated protein	BrainSpLMD|10048	OMIM|603854
nEN-early2	RP11.234A1.1	0.361417676	0.002143474			
nEN-early2	LRIG2	0.366254485	0.002179741	Cell surface receptor	BrainSpLMD|9860	OMIM|608869;HPO|9860|Autosomal recessive inheritance, Constipation, Cryptorchidism, Enuresis, Hydronephrosis, Recurrent urinary tract infections, Renal insufficiency, Urethral obstruction, Urinary incontinence, Urinary urgency, Vesicoureteral reflux
nEN-early2	SOX12	0.416783554	0.002233227	Transcription factor	BrainSpLMD|6666;Eurexp|euxassay_019555|facial VII, glossopharyngeal IX, neural retina, trigeminal V;BrainSpMouseDev|20429	OMIM|601947
nEN-early2	RP11.295P9.3	0.493316483	0.002259381			
nEN-early2	RALGPS1	0.431968106	0.002323429	Guanine nucleotide exchange factor	BrainSpLMD|9649	OMIM|614444
nEN-early2	SENP5	0.265595703	0.002688182	Protease	BrainSpLMD|205564;Eurexp|euxassay_002886|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X	OMIM|612845
nEN-early2	PSMG2	0.339933233	0.002918869	Cell cycle control protein	BrainSpLMD|56984	OMIM|609702
nEN-early2	ZFP30	0.472995446	0.002937321	DNA binding protein	BrainSpLMD|22835	OMIM|617317
nEN-early2	PKNOX1	0.553990395	0.003119821	Transcription factor	BrainSpLMD|5316;BrainSpMouseDev|18535	OMIM|602100
nEN-early2	KLF3	0.561438845	0.003144897	Transcription regulatory protein	BrainSpLMD|51274	OMIM|609392
nEN-early2	CSGALNACT2	0.461550551	0.003379868	Enzyme: Galactosyltransferase	BrainSpLMD|55454	OMIM|616616
nEN-early2	COX11	0.403424527	0.003649468	Chaperone	BrainSpLMD|1353	OMIM|603648
nEN-early2	RCC2	0.321212542	0.003673907	Cell cycle control protein	BrainSpLMD|55920;Eurexp|euxassay_006452|cortex, hindgut, incisor, left, left lung, marginal layer, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pharyngo-tympanic tube, rectum, right, right lung, stomach, submandibular gland primordium, testis, thymus primordium, trachea, urethra, ventricular layer, vibrissa	OMIM|609587
nEN-early2	STXBP5	0.267074695	0.003792835	Transport/cargo protein	BrainSpLMD|134957	SFARI||Autism, 3 - Suggestive evidence;OMIM|604586
nEN-early2	CCT6P3	0.486934805	0.004111456			
nEN-early2	ZNF431	0.329580448	0.004163284	DNA binding protein	BrainSpLMD|170959	
nEN-early2	HNRNPLL	0.294857555	0.004268066	RNA binding protein	BrainSpLMD|92906	OMIM|611208
nEN-early2	RNF38	0.29231363	0.004344211	Ubiquitin proteasome system protein	BrainSpLMD|152006;Eurexp|euxassay_009782|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, 4 - Minimal evidence;OMIM|612488
nEN-early2	HSDL1	0.273446686	0.004359881	Enzyme: Dehydrogenase	BrainSpLMD|83693	
nEN-early2	LENG8	0.404551976	0.004528692	Unclassified	BrainSpLMD|114823	OMIM|616575
nEN-early2	TRMT61B	0.335820169	0.004879026	Enzyme: Methyltransferase	BrainSpLMD|55006	
nEN-early2	HNRNPA1P35	0.268907437	0.004906821			
nEN-early2	SPAST	0.361905467	0.004911099	Cytoskeletal associated protein	BrainSpLMD|6683	SFARI||Autism, 2 - Strong candidate;OMIM|604277;HPO|6683|Aggressive behavior, Agitation, Apathy, Autosomal dominant inheritance, Babinski sign, Degeneration of the lateral corticospinal tracts, Dementia, Depressivity, Disinhibition, Genetic anticipation, Hyperreflexia, Impaired vibration sensation in the lower limbs, Insidious onset, Intellectual disability, Low back pain, Lower limb muscle weakness, Memory impairment, Nystagmus, Paraplegia, Progressive, Spastic gait, Spastic paraplegia, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency, Variable expressivity
nEN-early2	RANBP6	0.268322016	0.004962729	Transport/cargo protein		
nEN-early2	ANKRD44	0.344247784	0.005081818	Unclassified	BrainSpLMD|91526	
nEN-early2	RPL36A	0.467429966	0.005299193	Ribosomal subunit		OMIM|300902
nEN-early2	ARHGEF7	0.304896963	0.00549231	Guanine nucleotide exchange factor	BrainSpLMD|8874	OMIM|605477
nEN-early2	FAM60A	0.263592412	0.005765401			
nEN-early2	KPNA3	0.280245842	0.005776318	Transport/cargo protein	BrainSpLMD|3839	OMIM|601892
nEN-early2	VPS36	0.404649775	0.005817779	Unclassified	BrainSpLMD|51028	OMIM|610903
nEN-early2	SLC22A17	0.587637263	0.005839001	Transport/cargo protein	BrainSpLMD|51310	OMIM|611461
nEN-early2	FAM222B	0.530231477	0.005932944	Unclassified	BrainSpLMD|55731	
nEN-early2	N4BP2	0.345185873	0.005949901	DNA binding protein	BrainSpLMD|55728	
nEN-early2	VPS39	0.643900281	0.005962199	Transport/cargo protein	BrainSpLMD|23339	OMIM|612188
nEN-early2	ZNF566	0.507870674	0.00617168	Transcription regulatory protein	BrainSpLMD|84924	
nEN-early2	ZNF3	0.532792396	0.006201817	DNA binding protein	BrainSpLMD|7551	OMIM|194510
nEN-early2	TRIT1	0.713493011	0.006207057	Enzyme: Transferase	BrainSpLMD|54802	
nEN-early2	TRAFD1	0.368481911	0.006493542	DNA binding protein	BrainSpLMD|10906	OMIM|613197
nEN-early2	CEP97	0.313630671	0.006775372	Unclassified	BrainSpLMD|79598	OMIM|615864
nEN-early2	BTBD10	0.252333199	0.00708523	Transcription regulatory protein	BrainSpLMD|84280	OMIM|615933
nEN-early2	CCT6P1	0.269950993	0.007620041			
nEN-early2	LDOC1L	0.274954816	0.007712746			
nEN-early2	L3MBTL3	0.278397489	0.008257711	Transcription regulatory protein	BrainSpLMD|84456	
nEN-early2	CCDC144B	0.288559796	0.008389199	Unclassified		
nEN-early2	GPATCH8	0.265107001	0.008627626	Unclassified	BrainSpLMD|23131	OMIM|614396
nEN-early2	ENO2	0.28067902	0.008724655	Enzyme: Hydratase	BrainSpLMD|2026;Eurexp|euxassay_018457|dorsal root ganglion, facial VII, mantle layer, trigeminal V, vagus X, ventral grey horn	OMIM|131360
nEN-early2	ZBTB10	0.331943055	0.008839908	Transcription regulatory protein	BrainSpLMD|65986	
nEN-early2	AGPAT6	0.462027016	0.008954266			
nEN-early2	ACVR2B	0.362844801	0.008972593	Receptor serine/threonine kinase	BrainSpLMD|93;Eurexp|euxassay_007595|brain, cervical, cervico-thoracic, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, incisor, inner ear, left lung, metanephros, midgut, molar, olfactory, pharyngo-tympanic tube, pharynx, rectum, renal/urinary system, retina, right lung, spinal cord, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|11269	OMIM|602730;HPO|93|Atrioventricular canal defect, Autosomal dominant inheritance, Dextrocardia, Ectopia of the spleen, Right aortic arch, Ventricular septal defect
nEN-early2	STT3B	0.315525184	0.009432	Integral membrane protein	BrainSpLMD|201595	OMIM|608605;HPO|201595|Abnormal glycosylation, Autosomal recessive inheritance, Cerebellar atrophy, Congenital onset, Cryptorchidism, Death in childhood, Decreased liver function, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Microcephaly, Micropenis, Optic atrophy, Respiratory distress, Scrotal hypoplasia, Seizures, Thrombocytopenia
nEN-early2	CHMP3	0.443998834	0.00944503	Unclassified	BrainSpLMD|51652	OMIM|610052
nEN-early2	NDUFA13	0.488759887	0.009588717	Enzyme: Oxidoreductase	BrainSpLMD|51079	OMIM|609435
nEN-late	NRP1	1.811770958	0	Cell surface receptor	BrainSpLMD|8829;BrainSpMouseDev|17953	OMIM|602069
nEN-late	PALMD	1.660153276	0	Unclassified	BrainSpLMD|54873	OMIM|610182
nEN-late	SLC24A2	1.604802483	0	Membrane transport protein	BrainSpLMD|25769	SFARI||Autism, No category;OMIM|609838
nEN-late	PRSS12	1.557511271	0	Serine protease	BrainSpLMD|8492;Eurexp|euxassay_015396|head mesenchyme, lower jaw, molar, nasal capsule, upper jaw;BrainSpMouseDev|18905	OMIM|606709;HPO|8492|Autosomal recessive inheritance, Babinski sign, Hyperactive deep tendon reflexes, Intellectual disability, Nystagmus, Strabismus
nEN-late	LINC01105	1.500541313	0		BrainSpLMD|150622	
nEN-late	RP11.436D23.1	1.49876389	0			
nEN-late	SLC17A6	1.489987838	0	Membrane transport protein	BrainSpLMD|57084;Eurexp|euxassay_004371|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, mesenchyme, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|80230	OMIM|607563
nEN-late	SEMA3C	1.422910935	0	Ligand	BrainSpLMD|10512;BrainSpMouseDev|20111	OMIM|602645;HPO|10512|Abdominal pain, Aganglionic megacolon, Constipation, Intestinal obstruction, Nausea and vomiting, Weight loss
nEN-late	PTCHD2	1.419319027	0			
nEN-late	DPY19L1	1.411162673	0	Unclassified		OMIM|613892
nEN-late	LRP8	1.351621874	0	Cell surface receptor	BrainSpLMD|7804;BrainSpMouseDev|16745	OMIM|602600
nEN-late	HS3ST1	1.308268313	0	Enzyme: Sulphotransferase	BrainSpLMD|9957;Eurexp|euxassay_011898|Meckel's cartilage, femur, fibula, hip, humerus, mantle layer, mesenchyme, metatarsus, rib, scapula, submandibular gland primordium, tibia, ventricular layer	OMIM|603244
nEN-late	UNC5D	1.251306954	0	Unclassified	BrainSpLMD|137970;Eurexp|euxassay_012466|basal plate, clavicle, incisor, lip, mantle layer, molar, palatal shelf, respiratory, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|84240	OMIM|616466
nEN-late	LINC00478	1.221720082	0			
nEN-late	LINC01102	1.19364827	0			
nEN-late	PPP2R2B	1.118857937	0	Regulatory/other subunit;Serine/threonine phosphatase	BrainSpLMD|5521;Eurexp|euxassay_007301|Meckel's cartilage, brain, eyelid, facial VII, glossopharyngeal IX, inner ear, left lung, neural retina, orbito-sphenoid, right lung, skeletal muscle, spinal cord, tongue, trigeminal V, turbinate, vagus X, vestibulocochlear VIII	OMIM|604325;HPO|5521|Abnormality of eye movement, Action tremor, Anxiety, Autosomal dominant inheritance, Axial dystonia, Cerebellar atrophy, Cerebral cortical atrophy, Delusions, Dementia, Depressivity, Dysarthria, Dysdiadochokinesis, Dysmetria, Facial myokymia, Head tremor, Hyperreflexia, Parkinsonism, Progressive cerebellar ataxia, Sensorimotor neuropathy
nEN-late	CNR1	1.082678727	0	G protein coupled receptor	BrainSpLMD|1268;BrainSpMouseDev|12584	SFARI||Autism, 3 - Suggestive evidence;OMIM|114610
nEN-late	RASGEF1B	1.077677619	0	Guanine nucleotide exchange factor	BrainSpLMD|153020;Eurexp|euxassay_003547|basal plate, mantle layer, marginal layer, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|614532
nEN-late	RAB12	1.059396584	0	G protein		OMIM|616448
nEN-late	MLLT3	1.053817832	0	Unclassified	BrainSpLMD|4300;Eurexp|euxassay_008130|adrenal gland, brain, ear, epithelium, hindgut, incisor, inner ear, lobe, metatarsus, molar, penis, rectum, rib, spinal cord, submandibular gland primordium, vibrissa	OMIM|159558;COSMIC||ALL
nEN-late	ENC1	1.033579666	0	Structural protein	BrainSpLMD|8507;BrainSpMouseDev|13581	OMIM|605173
nEN-late	GRIA2	1.03279075	0	Extracellular ligand gated channel	BrainSpLMD|2891;Eurexp|euxassay_010006|brain, dorsal root ganglion, molar, penis, skeletal muscle, spinal cord, trigeminal V, vagus X;BrainSpMouseDev|14576	OMIM|138247
nEN-late	KCNQ3	1.003221835	0	Voltage gated channel	BrainSpLMD|3786;Eurexp|euxassay_008387|mantle layer, marginal layer, midgut, rib, ventral grey horn;BrainSpMouseDev|75016	SFARI||Autism, 3 - Suggestive evidence;OMIM|602232;HPO|3786|Abnormality of vision, Autosomal dominant inheritance, Choreoathetosis, Deeply set eye, Dysesthesia, Dyskinesia, Focal clonic seizures, Generalized tonic-clonic seizures, Hypertonia, Muscular hypotonia, Myoclonus, Reduced consciousness/confusion, Seizures
nEN-late	POU3F2	1.001231417	0	Transcription factor	BrainSpLMD|5454;BrainSpMouseDev|18755	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600494
nEN-late	EPHA3	0.989832532	0	Receptor tyrosine kinase	BrainSpLMD|2042;Eurexp|euxassay_018957|axial muscle, clavicle, cranial muscle, extrinsic ocular muscle, floorplate, head mesenchyme, incisor, lip, lung, mantle layer, marginal layer, mesenchyme, molar, naris, palatal shelf, pectoral girdle and thoracic body wall, skeletal muscle, tarsus, thymus primordium, tongue, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|13615	OMIM|179611;COSMIC||lung cancer, CRC, melanoma
nEN-late	RP11.166D19.1	0.989465899	0			
nEN-late	SLA	0.955347027	0	Adapter molecule	BrainSpLMD|6503	OMIM|601099
nEN-late	NTM	0.897945254	0	Adhesion molecule	BrainSpLMD|50863;Eurexp|euxassay_012548|axial skeleton, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, meninges, mesenchyme, neural retina, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|87964	OMIM|607938
nEN-late	MEIS2	0.871872243	0	Transcription factor	BrainSpLMD|4212;BrainSpMouseDev|17303	OMIM|601740;HPO|4212|2-3 toe syndactyly, Atrial septal defect, Autistic behavior, Autosomal dominant inheritance, Biparietal narrowing, Broad hallux, Broad thumb, Cleft palate, Cleft upper lip, Coarctation of aorta, Deeply set eye, Delayed speech and language development, Gastroesophageal reflux, Global developmental delay, High anterior hairline, Highly arched eyebrow, Intellectual disability, Large forehead, Microcephaly, Narrow forehead, Pointed chin, Sandal gap, Short 2nd finger, Short 5th finger, Short philtrum, Short stature, Smooth philtrum, Sparse eyebrow, Tented upper lip vermilion, Upslanted palpebral fissure, Ventricular septal defect
nEN-late	SORBS2	0.87048895	0	Adapter molecule	BrainSpLMD|8470;Eurexp|euxassay_012430|axial skeleton, cochlea, excretory component, exoccipital bone, mantle layer, metatarsus, nasal septum, otic capsule, petrous part, phalanx, skeletal muscle, submandibular gland primordium, tarsus, thyroid, turbinate, ventricle, ventricular layer	OMIM|616349
nEN-late	FMNL2	0.84671968	0	Unclassified	BrainSpLMD|114793	OMIM|616285
nEN-late	NEUROD2	0.844456676	0	Transcription factor	BrainSpLMD|4761;Eurexp|euxassay_013855|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|17780	OMIM|601725
nEN-late	PTPRD	0.609619014	0	Receptor tyrosine phosphatase	BrainSpLMD|5789	OMIM|601598
nEN-late	RTN1	0.588344839	0	Integral membrane protein	BrainSpLMD|6252;Eurexp|euxassay_003752|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, penis, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|600865
nEN-late	LRRC7	0.565779719	0	Cell junction protein	BrainSpLMD|57554;Eurexp|euxassay_009687|brain, spinal cord	SFARI||Autism, No category;OMIM|614453
nEN-late	THBS1	0.560931184	0	Extracellular matrix protein	BrainSpLMD|7057;Eurexp|euxassay_005711|axial skeleton, clavicle, cranium, footplate, handplate, left lung, lip, liver, mesenchyme, naris, rest of mesenchyme, right lung, sternum, turbinate bones	SFARI||Autism, No category;OMIM|188060
nEN-late	ZBTB18	0.53387084	0	Transcription regulatory protein	BrainSpLMD|10472	OMIM|608433;HPO|10472|Abnormality of the pinna, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Depressed nasal bridge, Epicanthus, Generalized hypotonia, Global developmental delay, Hypertelorism, Intellectual disability, Low-set ears, Microcephaly, Micrognathia, Prominent forehead, Round face, Seizures, Short stature, Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Variable expressivity
nEN-late	SOX11	0.461614592	0	Transcription factor	BrainSpLMD|6664;BrainSpMouseDev|20428	OMIM|600898;HPO|6664|Abnormal facial shape, Abnormality of cardiovascular system morphology, Abnormality of the columella, Abnormality of the dentition, Abnormality of the nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Autosomal dominant inheritance, Clinodactyly, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Everted lower lip vermilion, Feeding difficulties in infancy, Full cheeks, Generalized hirsutism, Global developmental delay, Hearing impairment, Highly arched eyebrow, Hypertrichosis, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Long nose, Low-set ears, Microcephaly, Midface retrusion, Muscular hypotonia, Nystagmus, Open mouth, Posteriorly rotated ears, Recurrent respiratory infections, Scoliosis, Seizures, Short chin, Short distal phalanx of finger, Short nose, Short palpebral fissure, Short philtrum, Short stature, Slow-growing hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick vermilion border, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Wide mouth, Wide nasal bridge
nEN-late	NFIB	0.415876463	0	Transcription factor	BrainSpLMD|4781;BrainSpMouseDev|17795	OMIM|600728;COSMIC||adenoid cystic carcinoma, lipoma
nEN-late	PTPRS	0.476810578	2.22E-16	Receptor tyrosine phosphatase	BrainSpLMD|5802;Eurexp|euxassay_009779|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|601576
nEN-late	NEUROD6	0.440606708	3.33E-16	Transcription factor	BrainSpLMD|63974;Eurexp|euxassay_017889|inner ear, mantle layer, olfactory, olfactory lobe;BrainSpMouseDev|11708	OMIM|611513
nEN-late	NEUROD1	1.322131965	4.44E-16	Transcription factor	BrainSpLMD|4760;Eurexp|euxassay_019467|dorsal grey horn, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, pancreas, pineal primordium, pituitary, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17779	OMIM|601724;HPO|4760|Autosomal dominant inheritance, Maturity-onset diabetes of the young
nEN-late	KIAA1324	0.943874868	7.77E-16	Unclassified	BrainSpLMD|57535	OMIM|611298
nEN-late	ST8SIA1	1.059291808	1.22E-15	Enzyme: Sialyltransferase	BrainSpLMD|6489;Eurexp|euxassay_000637|dorsal root ganglion, inferior, superior, trigeminal V, vagus X	OMIM|601123
nEN-late	CPE	0.7333195	1.55E-15	Carboxypeptidase	BrainSpLMD|1363	OMIM|114855
nEN-late	LINC01158	0.548792511	7.44E-15			
nEN-late	UQCRQ	0.256574226	8.44E-15	Unclassified	BrainSpLMD|27089	OMIM|612080;HPO|27089|Abnormality of extrapyramidal motor function, Absent speech, Ataxia, Athetosis, Autosomal recessive inheritance, Dystonia, Generalized hypotonia, Global developmental delay, Hyperreflexia, Increased serum lactate, Intellectual disability, Intellectual disability, severe
nEN-late	GPM6A	0.409445829	1.11E-14	Integral membrane protein	BrainSpLMD|2823;Eurexp|euxassay_005521|brain, diaphragm, epithelium, lip, mesenchyme, mesothelium, neural retina, olfactory, pericardial cavity, spinal cord, stroma	OMIM|601275
nEN-late	SSTR2	1.033221088	1.51E-14	G protein coupled receptor	BrainSpLMD|6752;BrainSpMouseDev|20368	OMIM|182452
nEN-late	TTC28	0.821537125	1.58E-14	Unclassified	BrainSpLMD|23331	OMIM|615098
nEN-late	ZFHX4	0.553957973	1.88E-14	Transcription factor	BrainSpLMD|79776;Eurexp|euxassay_005820|epidermis, mantle layer, nasal septum, urethra;BrainSpMouseDev|56662	OMIM|606940;HPO|79776|Autosomal dominant inheritance, Congenital ptosis
nEN-late	CELF4	0.509375019	3.38E-14	RNA binding protein	BrainSpLMD|56853;Eurexp|euxassay_009241|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|612679
nEN-late	BHLHE22	1.016590275	5.92E-14	Unclassified	BrainSpLMD|27319;BrainSpMouseDev|37621	OMIM|613483
nEN-late	FAM126A	1.140089341	6.56E-14	Unclassified	BrainSpLMD|84668;Eurexp|euxassay_013806|olfactory, ventricular layer	OMIM|610531;HPO|84668|Abnormal pyramidal signs, Abnormality of the cerebellum, Autosomal recessive inheritance, Babinski sign, Cerebral hypomyelination, Cerebral white matter atrophy, Congenital cataract, Decreased motor nerve conduction velocity, Dysarthria, Global developmental delay, Hyperreflexia, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intention tremor, Leukodystrophy, Loss of ability to walk, Lower limb amyotrophy, Lower limb muscle weakness, Motor delay, Muscular hypotonia of the trunk, Polyneuropathy, Scoliosis, Seizures, Truncal titubation, Variable expressivity
nEN-late	SH3GL1	0.333612495	1.77E-13	Unclassified	BrainSpLMD|6455;Eurexp|euxassay_000588|chondrocranium	OMIM|601768;COSMIC||AL
nEN-late	AUTS2	0.518082941	2.54E-13	Unclassified	BrainSpLMD|26053	SFARI||Autism, 3 - Suggestive evidence;OMIM|607270;HPO|26053|Abnormal facial shape, Arthrogryposis multiplex congenita, Autism, Autosomal dominant inheritance, Brachycephaly, Cerebral palsy, Decreased palmar creases, Delayed speech and language development, Downslanted palpebral fissures, Feeding difficulties, Global developmental delay, Highly arched eyebrow, Hypertelorism, Intellectual disability, Kyphosis, Low-set ears, Microcephaly, Narrow mouth, Prominent nasal tip, Ptosis, Scoliosis, Short palpebral fissure, Short philtrum, Short stature, Small for gestational age, Strabismus, Thick eyebrow, Wide nasal base
nEN-late	CLMP	0.922692324	3.58E-12		BrainSpLMD|79827;Eurexp|euxassay_001798|mantle layer, marginal layer	OMIM|611693;HPO|79827|Abnormal peristalsis, Autosomal recessive inheritance, Chronic diarrhea, Cognitive impairment, Congenital shortened small intestine, Decreased intestinal transit time, Failure to thrive, Hypotrichosis, Intestinal hypoplasia, Intestinal malrotation, Lipoatrophy, Short stature, Steatorrhea
nEN-late	TBR1	0.571612952	8.40E-12	Transcription factor	BrainSpLMD|10716;BrainSpMouseDev|21136	SFARI||Autism, 1 - High confidence;OMIM|604616;HPO|10716|Abnormality of oral frenula, Abnormality of the iris, Autistic behavior, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Cataract, Cleft palate, Coloboma, Downslanted palpebral fissures, Failure to thrive, Growth delay, Hand clenching, Hypertelorism, Intellectual disability, Long fingers, Low-set, posteriorly rotated ears, Microphthalmia, Neonatal hypotonia, Seizures, Severe global developmental delay, Short neck, Short philtrum, Small face, Small for gestational age, Toe syndactyly
nEN-late	UQCR11	0.498651377	9.55E-12	Enzyme: Reductase	BrainSpLMD|10975	OMIM|609711
nEN-late	APP	1.136129936	1.05E-11	Cell surface receptor	BrainSpLMD|351;BrainSpMouseDev|11607	SFARI||Autism, No category;OMIM|104760;HPO|351|Alzheimer disease, Autosomal dominant inheritance, Behavioral abnormality, Cerebellar hemorrhage, Cerebral amyloid angiopathy, Cerebral calcification, Cerebral hemorrhage, Cerebral ischemia, Coma, Dementia, Dysphagia, Febrile seizures, Gait disturbance, Global developmental delay, Headache, Heterogeneous, Intellectual disability, Long-tract signs, Memory impairment, Migraine, Myoclonus, Neurofibrillary tangles, Paresthesia, Parkinsonism, Recurrent cerebral hemorrhage, Seizures, Sensory impairment, Stroke, Tortuous cerebral arteries
nEN-late	RP11.524C21.2	0.826814738	2.01E-11			
nEN-late	NRXN1	0.482256577	4.52E-11	Cell surface receptor	BrainSpLMD|9378;Eurexp|euxassay_005585|arm, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, leg, midbrain, neural retina, olfactory, oral epithelium, respiratory, spinal cord, thoracic, trigeminal V, trunk mesenchyme, vagus X, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17956	SFARI||Autism, 2 - Strong candidate;OMIM|600565;HPO|9378|Autosomal recessive inheritance, Constipation, Drooling, Epileptic encephalopathy, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Hyperventilation, Intellectual disability, severe, Protruding tongue, Pulmonic stenosis, Scoliosis, Strabismus, Wide mouth
nEN-late	SRP54	0.499536735	5.00E-11	RNA binding protein	BrainSpLMD|6729;Eurexp|euxassay_013249|embryo	OMIM|604857
nEN-late	MYT1L	0.582561105	6.85E-11	Transcription factor	BrainSpLMD|23040;BrainSpMouseDev|17700	SFARI||Autism, 1 - High confidence;OMIM|613084;HPO|23040|Aggressive behavior, Autosomal dominant inheritance, Delayed speech and language development, Global developmental delay, Intellectual disability, Obesity
nEN-late	PAG1	0.792829546	7.07E-11	Adapter molecule	BrainSpLMD|55824	OMIM|605767
nEN-late	SETD7	1.597945657	7.47E-11	Enzyme: Methyltransferase	BrainSpLMD|80854;BrainSpMouseDev|49092	OMIM|606594
nEN-late	DOK6	1.006260547	8.17E-11	Adapter molecule	BrainSpLMD|220164;Eurexp|euxassay_013254|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, spinal cord, trigeminal V	OMIM|611402
nEN-late	SNHG6	0.271964114	1.04E-10			OMIM|612215
nEN-late	SEZ6L	0.543351527	1.20E-10	Integral membrane protein	BrainSpLMD|23544;Eurexp|euxassay_009459|brain, neural retina, spinal cord	OMIM|607021
nEN-late	MEA1	0.364619577	2.11E-10	Unclassified	BrainSpLMD|4201	OMIM|143170
nEN-late	RNPS1	0.419014963	2.32E-10	RNA binding protein	BrainSpLMD|10921	SFARI||Autism, No category;OMIM|606447
nEN-late	ROBO2	0.610856162	2.55E-10	Cell surface receptor	BrainSpMouseDev|92611	SFARI||Autism, 3 - Suggestive evidence;OMIM|602431;COSMIC||colorectal adenocarcinoma, melanoma;HPO|6092|Autosomal dominant inheritance, Renal hypoplasia, Vesicoureteral reflux
nEN-late	MLLT11	0.373494665	3.00E-10	Unclassified	BrainSpLMD|10962;Eurexp|euxassay_010405|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|604684;COSMIC||ALL;HPO|10962|Autosomal dominant inheritance, Juvenile myelomonocytic leukemia, Somatic mutation
nEN-late	AC013394.2	0.325263499	3.46E-10			
nEN-late	C14orf2	0.309086638	1.32E-09			
nEN-late	SEZ6	0.829139564	2.04E-09	Integral membrane protein	BrainSpLMD|124925	OMIM|616666
nEN-late	SORBS1	0.652788339	2.05E-09	Cell junction protein	BrainSpLMD|10580;Eurexp|euxassay_003610|axial skeleton, basisphenoid bone, bladder, brain, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, heart, hindlimb, incisor, lens, liver, lung, metanephros, midgut, nasal septum, oesophagus, olfactory, orbito-sphenoid, otic capsule, respiratory, retina, rib, spinal cord, sternum, stomach, tongue, trachea, trigeminal V, vagus X, vertebra, vertebral cartilage condensation, vestibulocochlear VIII;BrainSpMouseDev|20174	OMIM|605264
nEN-late	TMEM87A	0.331753313	2.86E-09	Integral membrane protein	BrainSpLMD|25963	
nEN-late	ZC2HC1A	0.65597358	3.45E-09	Unclassified	BrainSpLMD|51101;Eurexp|euxassay_014698|cochlear component, diencephalon, dorsal root ganglion, facial VII, hindbrain, inferior, medulla oblongata, metencephalon, midbrain, olfactory, spinal cord, superior, telencephalon, trigeminal V, turbinate bones, vagus X, vestibular component	
nEN-late	POU3F3	0.493608248	5.17E-09	Transcription factor	BrainSpLMD|5455;Eurexp|euxassay_019559|axial skeleton, ductus deferens, inner ear, larynx, lip, loop, lower, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, nasal septum, palatal shelf, penis, phalanx, rectum, skeletal muscle, trigeminal V, upper, ventricular layer;BrainSpMouseDev|18756	OMIM|602480
nEN-late	RP3.417G15.1	0.301478812	6.28E-09			
nEN-late	CASC15	0.668967215	6.42E-09			OMIM|616610
nEN-late	GOLGA8A	0.880876062	6.70E-09	Unclassified	BrainSpLMD|23015	OMIM|616180
nEN-late	ATP5F1	0.298529038	8.69E-09			
nEN-late	RP11.421N8.1	0.297877677	8.99E-09			
nEN-late	AC004453.8	0.603168013	9.99E-09			
nEN-late	RP11.408P14.1	0.919410311	1.02E-08			
nEN-late	ST6GAL2	0.809721057	1.19E-08	Enzyme: Sialyltransferase	BrainSpLMD|84620	OMIM|608472
nEN-late	DDX18	0.358075325	1.33E-08	Transport/cargo protein	BrainSpLMD|8886	OMIM|606355
nEN-late	CNOT4	0.258007278	1.60E-08	Transcription regulatory protein	BrainSpLMD|4850	OMIM|604911
nEN-late	EZR	0.31224533	1.67E-08	Anchor protein	BrainSpLMD|7430;Eurexp|euxassay_018306|axial skeleton, calyces, choroid plexus, cochlea, dorsal root ganglion, epidermis, epithelium, fundus region, hindgut, incisor, larynx, lens, lobe, lung, marginal layer, midgut, molar, oesophagus, oral epithelium, pelvis, penis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, rib, saccule, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricle, ventricular layer, vibrissa	OMIM|123900;COSMIC||NSCLC
nEN-late	SEPT7P6	0.38340036	1.97E-08			
nEN-late	TMSB4XP4	0.693855563	2.25E-08	-		
nEN-late	RP11.806K15.1	0.727278875	2.79E-08			
nEN-late	TMSB10	0.315250688	3.38E-08	Cytoskeletal associated protein	BrainSpLMD|9168	OMIM|188399
nEN-late	OCIAD2	0.878465869	3.65E-08	Unclassified	BrainSpLMD|132299	
nEN-late	ZNF704	0.522537159	3.78E-08	Unclassified		
nEN-late	FAF2	0.361112148	4.31E-08	Unclassified	BrainSpLMD|23197;Eurexp|euxassay_007868|embryo	OMIM|616935
nEN-late	SORL1	0.977097548	4.97E-08	Integral membrane protein	BrainSpLMD|6653;Eurexp|euxassay_012191|bladder, calyces, epithelium, left lung, mantle layer, midgut, olfactory, pelvis, rectum, right lung, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, ureter, ventricular layer;BrainSpMouseDev|20422	OMIM|602005
nEN-late	RP3.368A4.5	0.624013069	5.04E-08			
nEN-late	RP11.16E23.4	0.329135296	5.99E-08			
nEN-late	UQCRB	0.25986828	6.13E-08	Enzyme: Reductase	BrainSpLMD|7381;Eurexp|euxassay_002757|basal plate, dorsal root ganglion, epidermal component, lung, trigeminal V, vagus X, ventricular layer	OMIM|191330;HPO|7381|Autosomal recessive inheritance, Hypoglycemia, Metabolic acidosis
nEN-late	HUNK	0.705380881	7.79E-08	Serine/threonine kinase	BrainSpLMD|30811	OMIM|606532
nEN-late	GNG3	0.887599392	8.62E-08	G protein	BrainSpLMD|2785;Eurexp|euxassay_010359|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608941
nEN-late	C8orf59	0.33128685	1.06E-07	Unclassified	BrainSpLMD|401466	
nEN-late	DDX42	0.253524792	1.11E-07	RNA binding protein	BrainSpLMD|11325	OMIM|613369
nEN-late	TRAPPC1	0.614761208	1.30E-07	Transport/cargo protein	BrainSpLMD|58485	OMIM|610969
nEN-late	PRKACB	0.848557154	1.40E-07	Serine/threonine kinase	BrainSpLMD|5567	OMIM|176892
nEN-late	AMER2	0.511900934	1.42E-07	Unclassified	BrainSpLMD|219287;Eurexp|euxassay_006362|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614659
nEN-late	SF3B5	0.339272207	1.57E-07	Unclassified	BrainSpLMD|83443;Eurexp|euxassay_005026|orbito-sphenoid, ventricular layer	
nEN-late	WDR60	0.37995257	1.71E-07	Unclassified	BrainSpLMD|55112;Eurexp|euxassay_012520|mandible, maxilla, olfactory, orbito-sphenoid	OMIM|615462;HPO|55112|Abdominal distention, Abnormal pelvis bone ossification, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Absent or minimally ossified vertebral bodies, Acetabular spurs, Ambiguous genitalia, Autosomal recessive inheritance, Brachydactyly, Cleft upper lip, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Failure to thrive, Femoral bowing, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypoplasia of penis, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Narrow chest, Pancreatic fibrosis, Polyhydramnios, Postaxial hand polydactyly, Postaxial polydactyly, Preaxial polydactyly, Pulmonary hypoplasia, Renal hypoplasia, Respiratory insufficiency, Short foot, Short long bone, Short palm, Short ribs, Short stature, Short thorax, Skeletal dysplasia, Syndactyly, Thoracic dysplasia, Urethrovaginal fistula, Uterus didelphys, Ventricular septal defect, Wide nose
nEN-late	RP11.20O24.4	0.435041969	1.84E-07			
nEN-late	FAM92A1	0.261009247	2.07E-07			
nEN-late	ATP6V1G1	0.299456122	2.07E-07	Transport/cargo protein	BrainSpLMD|9550;Eurexp|euxassay_006208|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, stroma, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|607296
nEN-late	RPL39	0.407642431	2.44E-07	Ribosomal subunit		OMIM|300899
nEN-late	FUT9	0.939857498	3.09E-07	Enzyme: Fucosyltransferase	BrainSpLMD|10690	OMIM|606865
nEN-late	ATP5J2	0.38234922	3.23E-07			
nEN-late	PPFIA2	0.625597134	3.31E-07	Anchor protein	BrainSpLMD|8499	OMIM|603143
nEN-late	SEMA4D	0.835699784	3.52E-07	Integral membrane protein	BrainSpLMD|10507;BrainSpMouseDev|20117	OMIM|601866
nEN-late	PTPN4	0.717455762	3.79E-07	Tyrosine phosphatase	BrainSpLMD|5775;Eurexp|euxassay_009725|mantle layer, marginal layer, ventricular layer	OMIM|176878
nEN-late	RBFOX2	0.479349942	3.90E-07	RNA binding protein	BrainSpLMD|23543	OMIM|612149
nEN-late	CFDP1	0.34243233	4.21E-07	Unclassified	BrainSpLMD|10428	OMIM|608108
nEN-late	PGGT1B	0.264996954	4.29E-07	Enzyme: Prenyltransferase	BrainSpLMD|5229	OMIM|602031
nEN-late	AP000962.2	1.094539834	4.75E-07			
nEN-late	ECD	0.605740549	4.79E-07	Transcription regulatory protein	BrainSpLMD|11319	OMIM|616464
nEN-late	IGF2BP2	0.293017515	4.81E-07	RNA binding protein	BrainSpLMD|10644	OMIM|608289
nEN-late	ASAH1	0.441008452	5.28E-07	Enzyme: Hydrolase	BrainSpLMD|427;Eurexp|euxassay_004481|lung	OMIM|613468;HPO|427|Areflexia, Arthralgia, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Cherry red spot of the macula, Decreased muscle mass, Degeneration of anterior horn cells, Dementia, Difficulty walking, EEG abnormality, EMG abnormality, Facial palsy, Failure to thrive, Frequent falls, Gait disturbance, Generalized myoclonic seizures, Gowers sign, Hepatomegaly, Hoarse cry, Intellectual disability, Irritability, Joint stiffness, Joint swelling, Juvenile onset, Kyphosis, Laryngomalacia, Lipogranulomatosis, Motor delay, Myoclonus, Neurological speech impairment, Nystagmus, Oral-pharyngeal dysphagia, Osteoporosis, Periarticular subcutaneous nodules, Progressive, Progressive distal muscular atrophy, Recurrent respiratory infections, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scoliosis, Short stature, Spinal muscular atrophy, Splenomegaly, Tongue fasciculations, Tremor, Variable expressivity
nEN-late	PRDM8	0.633747306	6.12E-07	Unclassified	BrainSpLMD|56978;Eurexp|euxassay_003278|diencephalon, dorsal root ganglion, hindbrain, midbrain, spinal cord, telencephalon, trigeminal V	OMIM|616639;HPO|56978|Autosomal recessive inheritance, Dementia, Dysarthria, Generalized myoclonic seizures, Hallucinations, Hyperreflexia, Lafora bodies, Mutism, Myoclonus, Paranoia, Progressive, Progressive cerebellar ataxia, Psychosis, Spastic ataxia, Spastic tetraplegia, Urinary incontinence, Variable expressivity
nEN-late	ATP5H	0.31171385	6.69E-07			
nEN-late	CDC123	0.301682673	6.85E-07	Cell cycle control protein	BrainSpLMD|8872	OMIM|617708
nEN-late	EXOC5	0.258603242	8.45E-07	Transport/cargo protein	BrainSpLMD|10640;Eurexp|euxassay_006589|embryo	SFARI||Autism, No category;OMIM|604469
nEN-late	RPS21	0.252408942	8.96E-07	Ribosomal subunit	BrainSpLMD|6227	OMIM|180477
nEN-late	MIAT	0.431539384	9.31E-07			OMIM|611082
nEN-late	NFIX	0.739752942	1.01E-06	Transcription factor	BrainSpLMD|4784;BrainSpMouseDev|17799	SFARI||Autism, No category;OMIM|164005;HPO|4784|Accelerated skeletal maturation, Advanced eruption of teeth, Agenesis of corpus callosum, Anteverted nares, Anxiety, Astigmatism, Atlantoaxial dislocation, Atrial septal defect, Autosomal dominant inheritance, Blue sclerae, Bullet-shaped middle phalanges of the hand, Cerebral atrophy, Choanal atresia, Choanal stenosis, Coxa valga, Cutis marmorata, Death in childhood, Decreased body weight, Delayed speech and language development, Depressed nasal bridge, Distal widening of metacarpals, Downslanted palpebral fissures, Eclabion, Everted lower lip vermilion, Failure to thrive, Frontal bossing, Generalized hypotonia, Gingival overgrowth, Glossoptosis, Hearing impairment, High forehead, Hypermetropia, Hypoplasia of the odontoid process, Intellectual disability, Irregular dentition, Large sternal ossification centers, Laryngomalacia, Long face, Long fingers, Low-set ears, Macrocephaly, Macrogyria, Malar flattening, Mandibular prognathia, Midface retrusion, Motor delay, Narrow face, Narrow mouth, Nystagmus, Obstructive sleep apnea, Omphalocele, Overfolded helix, Overgrowth, Patent ductus arteriosus, Pectus excavatum, Prominence of the premaxilla, Prominent forehead, Pulmonary arterial hypertension, Recurrent aspiration pneumonia, Retrognathia, Scoliosis, Shallow orbits, Short distal phalanx of finger, Short mandibular rami, Short nose, Short philtrum, Short sternum, Slender long bone, Sporadic, Strabismus, Synophrys, Tall stature, Thick eyebrow, Umbilical hernia, Ventriculomegaly
nEN-late	CD24	0.382160202	1.18E-06		BrainSpLMD|100133941;BrainSpMouseDev|12269	OMIM|600074
nEN-late	CENPC	0.315217126	1.30E-06	DNA binding protein	BrainSpLMD|1060	OMIM|117141
nEN-late	EPB41L3	0.96159741	1.31E-06	Structural protein	BrainSpLMD|23136	OMIM|605331
nEN-late	ALMS1	0.314265763	1.37E-06	Unclassified	BrainSpLMD|7840;Eurexp|euxassay_013199|epithelium, olfactory	OMIM|606844;HPO|7840|Abnormality of the dentition, Abnormality of the hand, Acanthosis nigricans, Accelerated skeletal maturation, Alopecia, Asthma, Atherosclerosis, Autosomal recessive inheritance, Blindness, Cataract, Chorioretinal abnormality, Chronic active hepatitis, Chronic otitis media, Cone/cone-rod dystrophy, Congestive heart failure, Constriction of peripheral visual field, Death in early adulthood, Decreased circulating high-density lipoprotein levels, Diabetes insipidus, Dilated cardiomyopathy, Elevated hepatic transaminases, Gingivitis, Global developmental delay, Growth hormone deficiency, Gynecomastia, Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hyperostosis frontalis interna, Hypertension, Hypertriglyceridemia, Hyperuricemia, Hypothyroidism, Insulin resistance, Insulin-resistant diabetes mellitus, Kyphosis, Menstrual irregularities, Multinodular goiter, Nephritis, Nystagmus, Otitis media, Pes planus, Photophobia, Pigmentary retinopathy, Progressive sensorineural hearing impairment, Progressive visual loss, Pulmonary arterial hypertension, Recurrent pneumonia, Recurrent respiratory infections, Renal insufficiency, Respiratory insufficiency, Scoliosis, Short stature, Subcapsular cataract, Truncal obesity, Tubulointerstitial nephritis, Type II diabetes mellitus
nEN-late	RBM17	0.522303969	1.61E-06	RNA binding protein	BrainSpLMD|84991	OMIM|606935
nEN-late	ANKRD17	0.273917542	1.66E-06	Unclassified	BrainSpLMD|26057	OMIM|615929
nEN-late	PGAP1	0.551692092	1.70E-06	Enzyme: Acyltransferase	BrainSpLMD|80055	OMIM|611655;HPO|80055|Abnormal electroretinogram, Abnormality of the dentition, Autosomal recessive inheritance, Cerebral atrophy, Global developmental delay, Intellectual disability, Macrotia, Microcephaly, Neonatal hypotonia, Retinal dystrophy, Short neck, Short stature, Wide mouth
nEN-late	ST13P5	0.338538376	1.71E-06	-		
nEN-late	TCEA1	0.308506824	1.79E-06	Transcription factor		OMIM|601425;COSMIC||salivary adenoma
nEN-late	SF3A1	0.295563965	1.82E-06	RNA binding protein	BrainSpLMD|10291	OMIM|605595
nEN-late	EIF1AX	0.264819004	1.97E-06	Translation regulatory protein	BrainSpLMD|1964	OMIM|300186;COSMIC||uveal melanoma, thyroid cancer (PDTC and ATC), low grade serous ovarian cancer
nEN-late	HES6	0.765363778	1.98E-06	Transcription regulatory protein	BrainSpLMD|55502;Eurexp|euxassay_018314|head mesenchyme, marginal layer, mesenchyme, molar, neural retina, olfactory, respiratory, retina, skeletal muscle, thymus primordium, trachea, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|35214	OMIM|610331
nEN-late	GPATCH2L	0.479864514	2.16E-06	Unclassified	BrainSpLMD|55668	
nEN-late	GRIA3	0.878343714	2.28E-06	Extracellular ligand gated channel	BrainSpLMD|2892;BrainSpMouseDev|32941	OMIM|305915;HPO|2892|Aggressive behavior, Brachycephaly, Deeply set eye, Intellectual disability, Intellectual disability, severe, Prominent supraorbital ridges, Short stature, X-linked recessive inheritance
nEN-late	SEPT7P2	0.281686934	3.21E-06			OMIM|611563
nEN-late	MAPT	0.349928007	3.46E-06	Structural protein	BrainSpLMD|4137;Eurexp|euxassay_002990|calyces, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, hindgut, mantle layer, marginal layer, midbrain, midgut, neural retina, olfactory, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|17529	OMIM|157140;HPO|4137|Abnormal brain FDG positron emission tomography, Abnormal pyramidal signs, Abnormality of the cerebral white matter, Adult onset, Aggressive behavior, Akinesia, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apathy, Apraxia, Autosomal dominant inheritance, Axial dystonia, Blurred vision, Bradykinesia, Collectionism, Dementia, Depressivity, Diplopia, Disinhibition, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphagia, Dysphasia, EEG with continuous slow activity, Echolalia, Emotional blunting, Eyelid apraxia, Falls, Frontal lobe dementia, Frontolimbic dementia, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait imbalance, Gliosis, Grammar-specific speech disorder, Granulovacuolar degeneration, Heterogeneous, Hyperorality, Inappropriate behavior, Inappropriate laughter, Inappropriate sexual behavior, Irritability, Kyphoscoliosis, Lack of insight, Language impairment, Loss of speech, Memory impairment, Morphological abnormality of the pyramidal tract, Mutism, Neurofibrillary tangles, Neuronal loss in central nervous system, Ophthalmoparesis, Parkinsonism, Perseveration, Personality changes, Photophobia, Polyphagia, Poor speech, Primitive reflex, Restlessness, Restrictive behavior, Retrocollis, Rigidity, Spoken Word Recognition Deficit, Sporadic, Stereotypy, Supranuclear gaze palsy, Temporal cortical atrophy, Thickened nuchal skin fold, Tremor
nEN-late	ACIN1	0.30903872	3.72E-06	DNA binding protein	BrainSpLMD|22985	OMIM|604562
nEN-late	IMMT	0.311155244	3.90E-06	Motor protein	BrainSpLMD|10989;Eurexp|euxassay_010967|adrenal gland, axial muscle, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, mantle layer, metanephros, midgut, pancreas, primitive seminiferous tubules, right lung, stomach, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, vagus X, vibrissa	OMIM|600378
nEN-late	NPIPA3	0.552542183	4.00E-06			
nEN-late	ATP5G1	0.478851997	4.14E-06			
nEN-late	RPL39P3	0.314803218	4.15E-06			
nEN-late	FGFR2	0.58352273	4.24E-06	Receptor tyrosine kinase	BrainSpLMD|2263;BrainSpMouseDev|13960	OMIM|176943;COSMIC||gastric, NSCLC, endometrial, Crouzon, Pfeiffer, and Apert syndromes;HPO|2263|2-3 finger syndactyly, 2-3 toe syndactyly, Abnormal facial shape, Abnormal heart morphology, Abnormal morphology of the limbic system, Abnormal renal morphology, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the cervical spine, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the palate, Abnormality of the pancreas, Abnormality of the periosteum, Abnormality of the pinna, Abnormality of the ribs, Absence of Stensen duct, Absent first metatarsal, Absent lacrimal punctum, Absent proximal phalanx of thumb, Absent radius, Absent septum pellucidum, Acanthosis nigricans, Acne, Acrobrachycephaly, Agenesis of corpus callosum, Alacrima, Anomalous tracheal cartilage, Anteriorly placed anus, Anteverted nares, Aplasia of the parotid gland, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Arachnodactyly, Arachnoid cyst, Arnold-Chiari malformation, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bicoronal synostosis, Bifid scrotum, Bifid uvula, Bilateral single transverse palmar creases, Bilateral triphalangeal thumbs, Blepharospasm, Brachycephaly, Brachydactyly, Brachyturricephaly, Breast carcinoma, Broad distal hallux, Broad distal phalanx of the thumb, Broad forehead, Broad hallux, Broad hallux phalanx, Broad metatarsal, Broad thumb, Bronchomalacia, Buphthalmos, Calcaneonavicular fusion, Camptodactyly, Camptodactyly of finger, Carious teeth, Cartilaginous trachea, Cerebellar hypoplasia, Cervical C5/C6 vertebrae fusion, Choanal atresia, Choanal stenosis, Chronic otitis media, Cleft of chin, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Cloverleaf skull, Conductive hearing impairment, Congenital stationary night blindness, Conical incisor, Conjunctivitis, Convex nasal ridge, Corneal perforation, Coronal craniosynostosis, Coronal hypospadias, Craniofacial dysostosis, Craniosynostosis, Cryptorchidism, Cupped ear, Cutaneous finger syndactyly, Dacryocystitis, Decreased calvarial ossification, Delayed cranial suture closure, Delayed eruption of primary teeth, Delayed eruption of teeth, Dental crowding, Dental malocclusion, Depressed nasal bridge, Deviation of the thumb, Dolichocephaly, Downslanted palpebral fissures, Dysgerminoma, Ectopic anus, Elbow ankylosis, Esophageal atresia, External ear malformation, Extramedullary hematopoiesis, Facial asymmetry, Feeding difficulties in infancy, Femoral bowing, Finger syndactyly, Flat face, Flat forehead, Frontal bossing, Fused labia minora, Gingival overgrowth, Global developmental delay, Growth abnormality, Hallux valgus, Hallux varus, Hearing abnormality, Hearing impairment, High forehead, High palate, Hirsutism, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hyperextensible skin, Hyperlordosis, Hypertelorism, Hypertension, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the lacrimal puncta, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplasia of the zygomatic bone, Hypoplastic ischia, Hypoplastic labia majora, Hypoplastic lacrimal duct, Incomplete ossification of pubis, Increased intracranial pressure, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Joint stiffness, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Lambdoidal craniosynostosis, Large fontanelles, Laryngomalacia, Limitation of joint mobility, Limited elbow extension, Long nose, Long philtrum, Low anterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Malar flattening, Mandibular prognathia, Megalencephaly, Megalocornea, Melanocytic nevus, Metopic depression, Micrognathia, Microtia, Midface retrusion, Mixed hearing impairment, Morphological abnormality of the semicircular canal, Multiple suture craniosynostosis, Narrow chest, Narrow internal auditory canal, Narrow nose, Narrow palate, Narrow pelvis bone, Nasolacrimal duct obstruction, Natal tooth, Nephrosclerosis, Open bite, Optic atrophy, Osteopenia, Overfolding of the superior helices, Overriding aorta, Oxycephaly, Palmoplantar cutis gyrata, Palmoplantar cutis laxa, Palmoplantar keratoderma, Parietal foramina, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of the distal phalanx of the 3rd finger, Partial duplication of thumb phalanx, Periorbital fullness, Plagiocephaly, Posterior fossa cyst, Preauricular skin furrow, Preaxial polydactyly, Prominent crus of helix, Prominent nasal bridge, Prominent scrotal raphe, Proptosis, Ptosis, Pyloric stenosis, Radial deviation of the 3rd finger, Radioulnar synostosis, Recurrent corneal erosions, Reduced number of teeth, Renal agenesis, Respiratory distress, Rocker bottom foot, Sagittal craniosynostosis, Seizures, Shallow orbits, Short clavicles, Short foot, Short hallux, Short metatarsal, Short middle phalanx of toe, Short nose, Short palm, Short stature, Shortening of all middle phalanges of the fingers, Skull asymmetry, Sleep apnea, Small hand, Small nail, Small thenar eminence, Somatic mutation, Steep acetabular roof, Stenosis of the external auditory canal, Stomach cancer, Strabismus, Subcutaneous nodule, Syndactyly, Synostosis of carpal bones, Telecanthus, Toe syndactyly, Tracheomalacia, Turricephaly, Ulnar bowing, Underdeveloped supraorbital ridges, Upper airway obstruction, Vaginal atresia, Variable expressivity, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide anterior fontanel, Xerostomia
nEN-late	AC016708.2	0.450633551	4.54E-06			
nEN-late	POLR2J3	0.290561637	4.84E-06	Unclassified		
nEN-late	PFDN2	0.528082169	5.04E-06	Chaperone	BrainSpLMD|5202	OMIM|613466
nEN-late	TENM4	0.619591103	5.59E-06	Cell surface receptor		OMIM|610084;HPO|26011|Age-dependent penetrance, Autosomal dominant inheritance, Intention tremor, Postural tremor, Slow progression, Variable expressivity
nEN-late	SLC30A9	0.387385671	6.40E-06	Transcription regulatory protein	BrainSpLMD|10463;Eurexp|euxassay_010926|facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|604604
nEN-late	LUC7L	0.595673631	6.64E-06	Unclassified	BrainSpLMD|55692	OMIM|607782
nEN-late	NPIPA5	0.612215322	6.82E-06			
nEN-late	CDC40	0.378070572	6.94E-06	Transcription regulatory protein	BrainSpLMD|51362;Eurexp|euxassay_012662|choroid plexus, floorplate, olfactory	OMIM|605585
nEN-late	DYNLRB1	0.462131932	6.97E-06	Unclassified;Transport/cargo protein	BrainSpLMD|83658;Eurexp|euxassay_002535|dorsal root ganglion	OMIM|607167
nEN-late	XIST	0.674718116	7.84E-06			OMIM|314670;HPO|7503|Spontaneous abortion
nEN-late	CTTNBP2	0.554809883	8.12E-06	Unclassified	BrainSpLMD|83992;Eurexp|euxassay_015493|dorsal grey horn, limb, mantle layer, penis, thalamus;BrainSpMouseDev|29776	SFARI||Autism, 3 - Suggestive evidence;OMIM|609772
nEN-late	ARID4A	0.254174825	8.34E-06	Transcription regulatory protein	BrainSpLMD|5926	OMIM|180201
nEN-late	LYSMD1	0.289420795	9.25E-06	Unclassified	BrainSpLMD|388695	
nEN-late	ISLR2	0.727392268	9.54E-06	Unclassified	BrainSpLMD|57611	OMIM|614179
nEN-late	FBXW2	0.40792577	9.54E-06	Ubiquitin proteasome system protein	BrainSpLMD|26190	OMIM|609071
nEN-late	SDCBP	0.662095744	9.59E-06	Adapter molecule	BrainSpLMD|6386;Eurexp|euxassay_008333|naris, olfactory, respiratory	OMIM|602217
nEN-late	PPHLN1	0.26695914	1.01E-05	Structural protein	BrainSpLMD|51535	OMIM|608150
nEN-late	DPY30	0.287119187	1.06E-05	Unclassified	BrainSpLMD|84661;Eurexp|euxassay_011324|cortex, incisor, left lung, liver, midgut, molar, olfactory, pancreas, right lung, stomach, submandibular gland primordium, thymus primordium, thyroid, vomeronasal organ	OMIM|612032
nEN-late	ZC3H11B	0.295193756	1.06E-05			
nEN-late	TSPYL1	0.287141958	1.17E-05	Unclassified	BrainSpLMD|7259	OMIM|604714;HPO|7259|Abnormality of metabolism/homeostasis, Abnormality of the eye, Abnormality of the voice, Ambiguous genitalia, Ambiguous genitalia, male, Apnea, Autosomal recessive inheritance, Bradycardia, Bronchospasm, Cardiac arrest, Cardiorespiratory arrest, Cryptorchidism, Death in infancy, Dysautonomia, Dysplastic testes, Feeding difficulties in infancy, Gastroesophageal reflux, Growth delay, Hypoplasia of penis, Hyporeflexia, Hypothermia, Laryngospasm, Myoclonus, Ophthalmoplegia, Partial development of the penile shaft, Scrotal hypoplasia, Sleep apnea, Staccato cry, Stridor, Testicular dysgenesis, Tongue fasciculations
nEN-late	PLXNA2	0.546152372	1.20E-05	Cell surface receptor	BrainSpLMD|5362;Eurexp|euxassay_010018|brain, spinal cord;BrainSpMouseDev|18609	OMIM|601054
nEN-late	ERH	0.314309753	1.26E-05	Transcription regulatory protein	BrainSpLMD|2079;Eurexp|euxassay_018034|orbito-sphenoid, ventricular layer	OMIM|601191
nEN-late	TCEAL4	0.37596094	1.38E-05	Unclassified	BrainSpLMD|79921	
nEN-late	COMMD6	0.300508643	1.42E-05	Unclassified	BrainSpLMD|170622	OMIM|612377
nEN-late	SFPQ	0.33143028	1.53E-05	RNA binding protein	BrainSpLMD|6421	OMIM|605199;COSMIC||papillary renal
nEN-late	ANKS1B	0.594357258	1.56E-05	Transcription regulatory protein	BrainSpLMD|56899	SFARI||Autism, No category;OMIM|607815
nEN-late	ABCF1	0.277175332	1.57E-05	Translation regulatory protein	BrainSpLMD|23;Eurexp|euxassay_007589|embryo	OMIM|603429
nEN-late	POLR2E	0.35466383	1.65E-05	RNA polymerase	BrainSpLMD|5434;Eurexp|euxassay_011641|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|180664
nEN-late	FAM76B	0.436981186	1.67E-05	Unclassified	BrainSpLMD|143684;Eurexp|euxassay_008153|oesophagus, ventricle	
nEN-late	RAB10	0.252927604	1.68E-05	GTPase	BrainSpLMD|10890;Eurexp|euxassay_008412|embryo	OMIM|612672
nEN-late	TIMM13	0.592746406	1.69E-05	Transport/cargo protein	BrainSpLMD|26517	OMIM|607383
nEN-late	VCP	0.263511598	1.74E-05	ATPase	BrainSpLMD|7415	OMIM|601023;HPO|7415|Abnormal brain FDG positron emission tomography, Abnormal nerve conduction velocity, Abnormality of pelvic girdle bone morphology, Abnormality of the cerebral white matter, Absent Achilles reflex, Aggressive behavior, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apraxia, Arthralgia, Autosomal dominant inheritance, Babinski sign, Back pain, Collectionism, Depressivity, Difficulty climbing stairs, Disinhibition, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, Dyspnea, Dystonia, EEG with continuous slow activity, EMG: neuropathic changes, Echolalia, Elevated alkaline phosphatase, Elevated alkaline phosphatase of bone origin, Elevated serum creatine phosphokinase, Emotional blunting, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontal cortical atrophy, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait disturbance, Gait imbalance, Generalized muscle weakness, Grammar-specific speech disorder, Hammertoe, Hip pain, Hyperorality, Impaired vibration sensation in the lower limbs, Inappropriate behavior, Irritability, Lack of insight, Limb fasciculations, Limb muscle weakness, Loss of speech, Lower limb hyperreflexia, Lumbar hyperlordosis, Memory impairment, Muscle cramps, Muscle weakness, Myopathy, Neurodegeneration, Pain, Paralysis, Pelvic girdle amyotrophy, Pelvic girdle muscle atrophy, Pelvic girdle muscle weakness, Perseveration, Personality changes, Pes cavus, Poor speech, Progressive, Proximal muscle weakness, Respiratory failure, Restlessness, Restrictive behavior, Rimmed vacuoles, Scapular winging, Shoulder girdle muscle atrophy, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Spastic gait, Spastic paraplegia, Spasticity, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold, Tongue fasciculations, Variable expressivity, Xerostomia
nEN-late	ZCRB1	0.358238143	1.82E-05	RNA binding protein	BrainSpLMD|85437	OMIM|610750
nEN-late	FRS2	0.282107776	1.84E-05	Adapter molecule	BrainSpLMD|10818	OMIM|607743
nEN-late	VPS29	0.299341528	1.87E-05	Transport/cargo protein;Enzyme: Hydrolase	BrainSpLMD|51699;Eurexp|euxassay_003692|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|606932
nEN-late	SAT2	0.252472878	1.89E-05	Enzyme: Acyltransferase	BrainSpLMD|112483	OMIM|611463
nEN-late	MPZL1	0.308951603	1.92E-05	Unclassified	BrainSpLMD|9019	OMIM|604376
nEN-late	DDX27	0.68741738	1.93E-05	RNA helicase	BrainSpLMD|55661	OMIM|616621
nEN-late	PSMD4	0.407994838	1.99E-05	Ubiquitin proteasome system protein	BrainSpLMD|5710	OMIM|601648
nEN-late	COX5B	0.251161735	2.11E-05	Enzyme: Oxidoreductase	BrainSpLMD|1329;Eurexp|euxassay_005933|embryo	OMIM|123866
nEN-late	CEP97	0.285279494	2.21E-05	Unclassified	BrainSpLMD|79598	OMIM|615864
nEN-late	MAPK6	0.353805321	2.53E-05	Serine/threonine kinase	BrainSpLMD|5597	OMIM|602904
nEN-late	GOLGA7	0.348141201	2.61E-05	Integral membrane protein	BrainSpLMD|51125	OMIM|609453
nEN-late	TMEM158	0.4755168	2.82E-05	Unclassified	BrainSpLMD|25907	
nEN-late	PLCB1	0.846794322	2.84E-05	Enzyme: Phospholipase	BrainSpLMD|23236	SFARI||Autism, 3 - Suggestive evidence;OMIM|607120;HPO|23236|Abnormality of skin morphology, Autosomal recessive inheritance, Developmental regression, Epileptic encephalopathy, Focal seizures, Generalized seizures, Hyperreflexia, Hypsarrhythmia, Infantile spasms, Muscular hypotonia of the trunk, Myoclonus, Spasticity
nEN-late	RABEP1	0.391646603	2.86E-05	GTPase activating protein	BrainSpLMD|9135	OMIM|603616;COSMIC||CMML
nEN-late	RAP1B	0.292764058	2.87E-05	GTPase	BrainSpLMD|5908	OMIM|179530;HPO|5908|Abnormal dermatoglyphics, Abnormality of the cardiac septa, Butterfly vertebrae, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Conductive hearing impairment, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Hemivertebrae, High palate, Highly arched eyebrow, Hydrocephalus, Hypodontia, Joint hyperflexibility, Long eyelashes, Macrotia, Microcephaly, Microdontia, Muscular hypotonia, Protruding ear, Ptosis, Recurrent infections, Scoliosis, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Sparse lateral eyebrow, Strabismus, Ventriculomegaly, Widely spaced teeth
nEN-late	ARID4B	0.311138041	3.00E-05	DNA binding protein	BrainSpLMD|51742	OMIM|609696
nEN-late	FAM177A1	0.392683264	3.02E-05	Unclassified	BrainSpLMD|283635	
nEN-late	PTTG1IP	0.311987274	3.06E-05	Transport/cargo protein	BrainSpLMD|754	OMIM|603784
nEN-late	PDE9A	0.776909803	3.08E-05	Enzyme: Phosphodiesterase	BrainSpLMD|5152;Eurexp|euxassay_005191|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, epithelium, glossopharyngeal IX, incisor, limb, lung, mesenchyme, metanephros, midgut, molar, naris, olfactory, oral epithelium, rectum, retina, spinal cord, stomach, submandibular gland primordium, tail, trigeminal V, vestibulocochlear VIII	OMIM|602973
nEN-late	KLHL7	0.554808647	3.14E-05	Unclassified	BrainSpLMD|55975;Eurexp|euxassay_011530|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611119;HPO|55975|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Pallor, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
nEN-late	PHLDA1	0.733165435	3.15E-05	Transcription factor	BrainSpLMD|22822;Eurexp|euxassay_008411|anterior, axial skeleton, bladder, cartilaginous ring, cornea, diaphragm, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, hepatic duct, hindgut, incisor, inner ear, left lung, liver, mantle layer, medulla, meninges, metanephros, midgut, molar, naso-lacrimal duct, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, right lung, skeletal muscle, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, tongue, trigeminal V, ureter, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|605335
nEN-late	USP10	0.309044736	3.49E-05	Ubiquitin proteasome system protein	BrainSpLMD|9100	OMIM|609818
nEN-late	LARP7	0.390911472	3.62E-05	Unclassified	BrainSpLMD|51574;Eurexp|euxassay_006535|embryo	OMIM|612026;HPO|51574|Autosomal recessive inheritance, Decreased body weight, Deeply set eye, Depressed nasal bridge, Global developmental delay, Intellectual disability, severe, Low-set ears, Malar flattening, Microcephaly, Scoliosis, Severe short stature, Short philtrum, Thick vermilion border, Wide mouth, Wide nasal bridge, Wide nose
nEN-late	FAM134A	0.642590994	3.65E-05			
nEN-late	KIAA0355	0.291623267	4.05E-05	Unclassified	BrainSpLMD|9710;Eurexp|euxassay_011009|lung, ovary	
nEN-late	PUS7L	0.740621079	4.34E-05	Unclassified	BrainSpLMD|83448;Eurexp|euxassay_001354|incisor, lung, ventricle	
nEN-late	DCC	0.59667704	4.34E-05	Cell surface receptor	BrainSpLMD|1630;Eurexp|euxassay_009578|mantle layer, marginal layer, neural retina, ventricular layer;BrainSpMouseDev|12956	OMIM|120470;COSMIC||CRC, melanoma, SCC;HPO|1630|Autosomal dominant inheritance, Bimanual synkinesia, Hereditary nonpolyposis colorectal carcinoma, Incomplete penetrance, Neoplasm of the stomach, Renal cell carcinoma, Squamous cell carcinoma, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma
nEN-late	RBM12	0.654477474	4.47E-05	RNA binding protein		OMIM|607179
nEN-late	PTBP2	0.396303946	4.62E-05	RNA binding protein	BrainSpLMD|58155	SFARI||Autism, 4 - Minimal evidence;OMIM|608449
nEN-late	CYP20A1	0.368015049	4.71E-05	Enzyme: Oxygenase	BrainSpLMD|57404;Eurexp|euxassay_012299|mandible, mantle layer, maxilla, orbito-sphenoid	
nEN-late	MEX3A	0.328747298	4.90E-05	RNA binding protein	Eurexp|euxassay_010898|neural retina, olfactory, vomeronasal organ	OMIM|611007
nEN-late	TSN	0.366467378	5.15E-05	DNA binding protein	BrainSpLMD|7247	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600575
nEN-late	SNX13	0.449185282	5.35E-05	Transport/cargo protein	BrainSpLMD|23161	OMIM|606589
nEN-late	PPP1R2	0.400465867	5.76E-05	Cell cycle control protein	BrainSpLMD|5504;Eurexp|euxassay_009514|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, trigeminal V, vagus X	OMIM|601792
nEN-late	BMS1	0.258273072	5.82E-05	Unclassified	BrainSpLMD|9790	OMIM|611448;HPO|9790|Aplasia cutis congenita over the scalp vertex, Autosomal dominant inheritance, Autosomal recessive inheritance, Calvarial skull defect, Congenital localized absence of skin, Skin ulcer, Spinal dysraphism
nEN-late	NFASC	0.848077283	6.52E-05	Adhesion molecule	BrainSpLMD|23114;Eurexp|euxassay_009740|brain, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|92672	OMIM|609145
nEN-late	NDUFB4	0.414261786	6.67E-05	Enzyme: Oxidoreductase		OMIM|603840
nEN-late	DCAF5	0.281005796	6.77E-05	Unclassified	BrainSpLMD|8816	OMIM|603812
nEN-late	IWS1	0.488376946	6.99E-05	Unclassified	BrainSpLMD|55677	
nEN-late	CSMD2	0.268337024	7.00E-05	Unclassified	BrainSpLMD|114784;Eurexp|euxassay_013347|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	OMIM|608398
nEN-late	RPL26	0.305126227	7.31E-05	Ribosomal subunit		OMIM|603704;HPO|6154|Abnormality of cells of the erythroid lineage, Abnormality of the eyelid, Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Absent thumb, Anemia, Arrhythmia, Atresia of the external auditory canal, Autosomal dominant inheritance, Bicuspid aortic valve, Cleft palate, Delayed puberty, Fatigue, Forearm reduction defects, Hypoplasia of the radius, Hypoplasia of the ulna, Macrocytic anemia, Migraine, Neutropenia, Pallor, Renal agenesis, Short stature, Stenosis of the external auditory canal
nEN-late	CCNJ	0.271296929	7.32E-05	Cell cycle control protein	BrainSpLMD|54619	
nEN-late	PPP2R2A	0.287008615	8.21E-05	Serine/threonine phosphatase	BrainSpLMD|5520	OMIM|604941
nEN-late	SCARNA22	0.483372416	8.68E-05			
nEN-late	PRRC2B	0.331126384	9.40E-05	Unclassified	BrainSpLMD|84726;Eurexp|euxassay_012252|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vomeronasal organ	
nEN-late	NAE1	0.27486222	9.40E-05	Adapter molecule	BrainSpLMD|8883	OMIM|603385
nEN-late	EMC4	0.373845828	0.000101724	Unclassified	BrainSpLMD|51234	OMIM|616245
nEN-late	ARHGAP1	0.328282659	0.000104274	GTPase activating protein	BrainSpLMD|392	OMIM|602732
nEN-late	MIA3	0.282233282	0.000109633	Unclassified	Eurexp|euxassay_011320|olfactory, vomeronasal organ	OMIM|613455
nEN-late	RAB5B	0.635598361	0.00010966	GTPase	BrainSpLMD|5869	OMIM|179514
nEN-late	RP5.857K21.11	0.392039478	0.000111559			
nEN-late	MED10	0.270323087	0.000113684	Transcription regulatory protein	BrainSpLMD|84246	OMIM|612382
nEN-late	PSMG2	0.256101558	0.000114421	Cell cycle control protein	BrainSpLMD|56984	OMIM|609702
nEN-late	CCT8P1	0.562203836	0.000115961			
nEN-late	CTC.575D19.1	0.358512979	0.000121141			
nEN-late	TRRAP	0.496869881	0.000126176	Transcription regulatory protein	BrainSpLMD|8295;Eurexp|euxassay_013672|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, molar, submandibular gland primordium, testis, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|603015;COSMIC||melanoma
nEN-late	SERP1	0.31025316	0.000128049	Integral membrane protein	BrainSpLMD|27230;Eurexp|euxassay_002193|Meckel's cartilage, incisor, molar, orbito-sphenoid	OMIM|617674
nEN-late	UBA2	0.459679521	0.000132163	Ubiquitin proteasome system protein	BrainSpLMD|10054	OMIM|613295
nEN-late	RPAP2	0.52527211	0.000133329	Unclassified	BrainSpLMD|79871	OMIM|611476
nEN-late	PJA1	0.441141892	0.000136308	Ubiquitin proteasome system protein	BrainSpLMD|64219	OMIM|300420
nEN-late	GSPT1	0.288597093	0.000138953	Cell cycle control protein	BrainSpLMD|2935	OMIM|139259
nEN-late	NREP	0.282997011	0.000139038	Unclassified	BrainSpLMD|9315	OMIM|607332
nEN-late	NDN	0.557517597	0.000141671	DNA binding protein	BrainSpLMD|4692;Eurexp|euxassay_018587|clavicle, epithelium, floor plate, floorplate, lens, mandible, oesophagus, orbito-sphenoid	OMIM|602117;HPO|4692|Abdominal obesity, Almond-shaped palpebral fissure, Attention deficit hyperactivity disorder, Clinodactyly, Clitoral hypoplasia, Cutaneous photosensitivity, Decreased fetal movement, Decreased muscle mass, Delayed puberty, Delayed speech and language development, Dolichocephaly, Downturned corners of mouth, Failure to thrive in infancy, Generalized hypopigmentation, Generalized hypotonia, Global developmental delay, Growth hormone deficiency, Hyperinsulinemia, Hypermetropia, Hypogonadotrophic hypogonadism, Hypoplastic labia minora, Hypoventilation, Impaired pain sensation, Infertility, Kyphosis, Micropenis, Motor delay, Narrow forehead, Narrow nasal bridge, Narrow palm, Nasal speech, Obesity, Oligomenorrhea, Polyphagia, Poor gross motor coordination, Poor suck, Recurrent respiratory infections, Scoliosis, Short foot, Short palm, Short stature, Sleep apnea, Small hand, Specific learning disability, Sporadic, Thin upper lip vermilion, Ventriculomegaly
nEN-late	RPS26	0.303230965	0.000142156	Ribosomal subunit	Eurexp|euxassay_007095|embryo	OMIM|603701;HPO|6231|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Infantile onset, Macrocytic anemia, Migraine, Pallor, Reticulocytopenia
nEN-late	MEX3D	0.27089957	0.000146481	RNA binding protein	BrainSpLMD|399664	OMIM|611009
nEN-late	LONP2	0.451161307	0.000148852	Aminopeptidase	BrainSpLMD|83752	OMIM|617774
nEN-late	PTMAP2	0.274389854	0.000154493			
nEN-late	TMEM59	0.316188766	0.000159364	Unclassified	BrainSpLMD|9528;Eurexp|euxassay_008205|alveolar sulcus, axial skeleton, basal columns, clavicle, femur, floor plate, floorplate, mandible, mantle layer, maxilla, olfactory, orbito-sphenoid, pituitary, rib, stomach	OMIM|617084
nEN-late	ACOT7	0.374400066	0.000165659	Enzyme: Hydrolase	BrainSpLMD|11332;Eurexp|euxassay_011287|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, molar, neural retina, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|602587
nEN-late	VPS41	0.317260348	0.000184787	Transport/cargo protein	BrainSpLMD|27072	OMIM|605485
nEN-late	TM2D1	0.328940258	0.000197677	Integral membrane protein	BrainSpLMD|83941	OMIM|610080
nEN-late	GOLGA3	0.280415949	0.000207275	Structural protein	BrainSpLMD|2802	OMIM|602581
nEN-late	NDUFB7	0.787398229	0.000218054	Adhesion molecule	BrainSpLMD|4713	OMIM|603842
nEN-late	USP48	0.353476569	0.0002219	Ubiquitin proteasome system protein	BrainSpLMD|84196	OMIM|617445
nEN-late	KRR1	0.729186256	0.000226738	DNA binding protein	BrainSpLMD|11103;Eurexp|euxassay_000275|axial skeleton, head mesenchyme, lung, oesophagus	SFARI||Autism, 4 - Minimal evidence;OMIM|612817
nEN-late	FADS2	0.456322591	0.000244874	Enzyme: Oxidase	BrainSpLMD|9415	OMIM|606149
nEN-late	DCUN1D4	0.515371621	0.000252067	Unclassified	BrainSpLMD|23142;Eurexp|euxassay_007138|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|64907	OMIM|612977
nEN-late	SNRPB2	0.46296308	0.000263777	Ribonucleoprotein	BrainSpLMD|6629;Eurexp|euxassay_003430|submandibular gland primordium, vibrissa	OMIM|603520
nEN-late	RPL14	0.423397093	0.000265939	Ribosomal subunit	BrainSpLMD|9045;Eurexp|euxassay_003114|nucleus pulposus	OMIM|617414
nEN-late	SUCLG1	0.571783495	0.000269201	Enzyme: Ligase	BrainSpLMD|8802	OMIM|611224;HPO|8802|Abnormality of the skin, Ataxia, Autosomal recessive inheritance, Cerebral atrophy, Encephalopathy, Failure to thrive, Feeding difficulties, Global developmental delay, Growth delay, Hyperhidrosis, Hypoglycemia, Hypophosphatemia, Infantile onset, Intellectual disability, severe, Intermittent hyperpnea at rest, Lactic acidosis, Methylmalonic aciduria, Muscular hypotonia, Phenotypic variability, Poor motor coordination, Renal aminoaciduria, Respiratory failure, Seizures, Skeletal muscle atrophy, Unsteady gait
nEN-late	EPC1	0.535046696	0.000273151	Transcription regulatory protein	BrainSpLMD|80314	OMIM|610999
nEN-late	SPIRE1	0.514930472	0.000273454	Transport/cargo protein	BrainSpLMD|56907	OMIM|609216
nEN-late	RRP15	0.265531211	0.00027441	Unclassified	BrainSpLMD|51018	OMIM|611193
nEN-late	ATAD2B	0.291344566	0.000275031	ATPase	BrainSpLMD|54454	OMIM|615347
nEN-late	CCNL2	0.400710383	0.00027549	Cell cycle control protein	BrainSpLMD|81669	OMIM|613482
nEN-late	TFG	0.255261426	0.000276458	Enzyme regulator	BrainSpLMD|10342	OMIM|602498;COSMIC||papillary thyroid, ALCL, NSCLC, extraskeletal myxoid chondrosarcoma;HPO|10342|Abnormal myelination, Abnormality of peripheral nerve conduction, Abnormality of the Achilles tendon, Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Difficulty climbing stairs, Difficulty standing, Distal lower limb amyotrophy, Distal sensory impairment, Fasciculations, Gait disturbance, Gliosis, Hyperlipidemia, Hyperreflexia, Inability to walk, Mildly elevated creatine phosphokinase, Motor polyneuropathy, Optic atrophy, Peripheral neuropathy, Proximal amyotrophy, Proximal muscle weakness, Sensorimotor neuropathy, Sensory neuropathy, Slow progression, Spastic paraplegia, Tetraplegia, Visual loss
nEN-late	ANKRD36B	0.519114774	0.000289096	Unclassified	BrainSpLMD|57730	
nEN-late	NUP160	0.279699789	0.000289576	Transport/cargo protein	BrainSpLMD|23279	OMIM|607614
nEN-late	CC2D2A	0.543004931	0.000293249	Unclassified		OMIM|612013;HPO|57545|Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the iris, Apnea, Astigmatism, Ataxia, Autistic behavior, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Blindness, Cataract, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cirrhosis, Cleft palate, Coloboma, Congenital hepatic fibrosis, Cryptorchidism, Cystic liver disease, Depressed nasal ridge, Elevated hepatic transaminases, Encephalocele, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Heterogeneous, Hyperreflexia, Hypertelorism, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intrahepatic biliary atresia, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Multiple small medullary renal cysts, Muscular hypotonia, Nephronophthisis, Nephropathy, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic nerve coloboma, Portal hypertension, Postaxial foot polydactyly, Postaxial hand polydactyly, Ptosis, Pulmonary hypoplasia, Renal cyst, Renal insufficiency, Retinal dystrophy, Rod-cone dystrophy, Round face, Sclerocornea, Sloping forehead, Spasticity, Splenomegaly, Tachypnea, Talipes, Talipes equinovarus, Ventriculomegaly, Visual impairment, Wide mouth
nEN-late	COA3	0.357299356	0.000300907	Unclassified	BrainSpLMD|28958	OMIM|614775
nEN-late	SKP1P1	0.323645993	0.000302656			
nEN-late	RBFOX1	0.563437594	0.000304793		BrainSpLMD|54715;Eurexp|euxassay_013824|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, thoracic, trigeminal V	SFARI||Autism, 3 - Suggestive evidence;OMIM|605104
nEN-late	KANSL2	0.440140424	0.000321823	Unclassified	BrainSpLMD|54934	OMIM|615488
nEN-late	CTD.2192J16.15	0.283564025	0.00032413			
nEN-late	SS18L2	0.342087368	0.000328485	Unclassified	BrainSpLMD|51188;Eurexp|euxassay_007845|Meckel's cartilage, basioccipital bone, clavicle, cricoid, fibula, metatarsus, nasal septum, orbito-sphenoid, otic capsule, rib, submandibular gland primordium, temporal bone, thyroid, tibia, turbinate	OMIM|606473
nEN-late	ACOX1	0.360569586	0.000330698	Enzyme: Oxidase	BrainSpLMD|51;Eurexp|euxassay_018548|dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, trigeminal V, vagus X, ventricular layer	OMIM|609751;HPO|51|Abnormal electroretinogram, Abnormality of metabolism/homeostasis, Abnormality of nervous system morphology, Abnormality of visual evoked potentials, Autosomal recessive inheritance, Babinski sign, Bilateral sensorineural hearing impairment, Brachycephaly, CNS demyelination, Death in infancy, Decreased light- and dark-adapted electroretinogram amplitude, Depressed nasal bridge, Developmental regression, Diffuse hepatic steatosis, Dysphagia, Dystonia, EEG abnormality, Elevated hepatic transaminases, Epicanthus, Failure to thrive, Frontal bossing, Gait disturbance, Global developmental delay, Hepatomegaly, Hyperreflexia, Hypertelorism, Hypertonia, Hypodontia, Infantile onset, Intellectual disability, progressive, Intellectual disability, severe, Inverted nipples, Irritability, Leukodystrophy, Low-set ears, Muscular hypotonia, Myopia, Neonatal hypotonia, Neurological speech impairment, No social interaction, Nystagmus, Optic atrophy, Pigmentary retinopathy, Respiratory insufficiency, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Strabismus, Tapetoretinal degeneration, Wide nasal bridge
nEN-late	CCDC174	0.560042136	0.000331074	Unclassified	BrainSpLMD|51244	OMIM|616735;HPO|51244|Autosomal recessive inheritance, Cryptorchidism, Decreased fetal movement, Delayed speech and language development, Dilation of lateral ventricles, Global developmental delay, Hypoplasia of the corpus callosum, Long face, Myopathic facies, Myopathy, Neonatal hypotonia, Open mouth, Respiratory insufficiency due to muscle weakness, Severe muscular hypotonia, Strabismus, Ventricular septal defect
nEN-late	DDAH2	0.619368693	0.000334357	Enzyme: Hydrolase	BrainSpLMD|23564	OMIM|604744
nEN-late	ZBTB37	0.436663789	0.000340347	Unclassified	BrainSpLMD|84614	
nEN-late	PHACTR3	0.512679357	0.00034128	Regulatory/other subunit	BrainSpLMD|116154	OMIM|608725
nEN-late	KIAA1430	0.361244428	0.000341479			
nEN-late	ZBED5	0.387001111	0.000352419	Unclassified	BrainSpLMD|58486	OMIM|615251
nEN-late	PKIA	0.284326956	0.000362973	Enzyme regulator	BrainSpLMD|5569;Eurexp|euxassay_018045|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mesenchyme, neural retina, olfactory, spinal cord, stroma, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|606059
nEN-late	SRP72	0.373382166	0.000390096	RNA binding protein	BrainSpLMD|6731	OMIM|602122;HPO|6731|Aplastic anemia, Autosomal dominant inheritance, Bone marrow hypocellularity, Hearing impairment, Myelodysplasia
nEN-late	CHMP2A	0.577903393	0.00039157	Transport/cargo protein	BrainSpLMD|27243;Eurexp|euxassay_001955|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, olfactory, pancreas, rectum, spinal cord, thoracic, thymus primordium, trigeminal V, urethra, vibrissa	OMIM|610893
nEN-late	AMFR	0.497587117	0.000413118	Ubiquitin proteasome system protein	BrainSpLMD|267;Eurexp|euxassay_003433|left, right	OMIM|603243
nEN-late	IGF1R	0.521291471	0.000417781	Receptor tyrosine kinase	BrainSpLMD|3480;BrainSpMouseDev|15774	OMIM|147370;HPO|3480|Abnormal facial shape, Abnormality of the rib cage, Agitation, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Broad nasal tip, Clinodactyly, Congenital onset, Decreased body weight, Delayed skeletal maturation, Delayed speech and language development, Everted lower lip vermilion, Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}, Intellectual disability, Intrauterine growth retardation, Long philtrum, Microcephaly, Motor delay, Pectus excavatum, Radial deviation of finger, Short palm, Short stature, Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Wide intermamillary distance, Wide nasal bridge
nEN-late	STX7	0.297819398	0.000418161	Integral membrane protein	BrainSpLMD|8417;Eurexp|euxassay_011674|cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|603217
nEN-late	PIAS1	0.314555111	0.000421931	Cell cycle control protein		OMIM|603566
nEN-late	PI4KA	0.52021708	0.000424371	Lipid Kinase	BrainSpLMD|5297	OMIM|600286;HPO|5297|Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Cerebellar dysplasia, Cerebellar hypoplasia, Congenital onset, Dolichocephaly, Externally rotated hips, Micrognathia, Overlapping fingers, Talipes equinovarus
nEN-late	SCOC	0.279160641	0.000432146	Unclassified	BrainSpLMD|60592;Eurexp|euxassay_002885|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X	
nEN-late	SMARCD1	0.558335614	0.000435395	Transcription regulatory protein	BrainSpLMD|6602	OMIM|601735;COSMIC||breast
nEN-late	NDUFS5	0.346860405	0.000441632	Enzyme: Oxidoreductase	BrainSpLMD|4725	OMIM|603847
nEN-late	MPHOSPH10	0.35514145	0.000445792	RNA binding protein	BrainSpLMD|10199;Eurexp|euxassay_007261|left lung, oesophagus, pituitary, right lung, urethra, vertebral axis muscle system	OMIM|605503
nEN-late	SUDS3	0.474892761	0.00045748	Transcription regulatory protein	BrainSpLMD|64426	OMIM|608250
nEN-late	NDUFB1	0.648066578	0.00048704	Enzyme: Oxidoreductase	BrainSpLMD|4707	OMIM|603837
nEN-late	CCDC23	0.429251197	0.000495132			
nEN-late	NEMF	0.267620186	0.000501313	Unclassified	BrainSpLMD|9147	OMIM|608378
nEN-late	RNF5	0.473611208	0.000515089	Enzyme: Ligase		OMIM|602677
nEN-late	FAU	0.341133337	0.000518133	Ubiquitin proteasome system protein	BrainSpLMD|2197	OMIM|134690
nEN-late	RAB14	0.375615594	0.000519203	GTPase	BrainSpLMD|51552	OMIM|612673
nEN-late	PIK3C3	0.265802904	0.000528429	Lipid Kinase	BrainSpLMD|5289;Eurexp|euxassay_014288|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate, vault of skull	OMIM|602609
nEN-late	ITFG1	0.335333713	0.000530312	Integral membrane protein	BrainSpLMD|81533;Eurexp|euxassay_011448|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611803
nEN-late	NUTF2	0.392332029	0.000532353	Transport/cargo protein	BrainSpLMD|10204;Eurexp|euxassay_015153|basal columns, brain, central nervous system, cerebellum, cerebral cortex, cortex, dermal component, dermis, dorsal root ganglion, drainage component, ear, epidermal component, epithelium, facial VII, floorplate, forebrain, incisor, inner ear, lateral wall, left lung, liver, liver and biliary system, lobe, lower jaw, lung, male, mandible, mantle layer, marginal layer, medullary region, mesenchyme, metanephros, molar, nasal cavity, nervous system, nucleus pulposus, otic capsule, petrous part, physiological umbilical hernia, renal/urinary system, rest of cerebellum, right lung, sublingual gland primordium, submandibular gland primordium, telencephalon, temporal bone, testis, thymus primordium, tooth, trigeminal V, turbinate bones, upper jaw, vagus X, ventricular layer, vibrissa	OMIM|605813
nEN-late	NFX1	0.718437326	0.000567543	Transcription regulatory protein	BrainSpLMD|4799	OMIM|603255
nEN-late	EIF3CL	0.277158902	0.000571752			
nEN-late	AGAP4	0.329954254	0.000575617	GTPase activating protein		
nEN-late	DNAJC16	0.256381059	0.0005909	Unclassified	BrainSpLMD|23341;Eurexp|euxassay_003764|olfactory	
nEN-late	LAMP2	0.311534119	0.00059198	Adhesion molecule	BrainSpLMD|3920	OMIM|309060;HPO|3920|Arrhythmia, Cardiomegaly, Cardiorespiratory arrest, Cognitive impairment, Dilated cardiomyopathy, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Exercise intolerance, Exercise-induced muscle cramps, Gait disturbance, Generalized amyotrophy, Global developmental delay, Hypertrophic cardiomyopathy, Hypokinesia, Intellectual disability, Muscle flaccidity, Myocardial fibrosis, Myocardial necrosis, Pes cavus, Phenotypic variability, Proximal muscle weakness, Visual impairment, Wolff-Parkinson-White syndrome, X-linked dominant inheritance
nEN-late	NAA35	0.449607864	0.000592712	Unclassified	BrainSpLMD|60560;Eurexp|euxassay_007326|embryo	
nEN-late	SYT4	0.450483284	0.000608686	Calcium binding protein	BrainSpLMD|6860	OMIM|600103
nEN-late	PAIP2	0.405836909	0.000629818	Translation regulatory protein	BrainSpLMD|51247;Eurexp|euxassay_006511|embryo	OMIM|605604
nEN-late	EPM2AIP1	0.416919103	0.000651318	Unclassified	BrainSpLMD|9852	OMIM|607911
nEN-late	SRGAP1	0.432785661	0.000678628	GTPase activating protein	BrainSpLMD|57522	OMIM|606523
nEN-late	UBE2E3	0.338175627	0.000701304	Ubiquitin proteasome system protein	BrainSpLMD|10477	OMIM|604151
nEN-late	CELSR2	0.806966171	0.000742325	G protein coupled receptor	BrainSpLMD|1952;Eurexp|euxassay_008296|brain, spinal cord, vibrissa;BrainSpMouseDev|33178	OMIM|604265
nEN-late	ZNF462	0.39047339	0.000748305	Transcription regulatory protein	BrainSpLMD|58499;Eurexp|euxassay_016001|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, incisor, inner ear, mandible, mantle layer, mesenchyme, metanephros, molar, neural retina, penis, pharyngo-tympanic tube, submandibular gland primordium, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|88953	SFARI||Autism, 4 - Minimal evidence;OMIM|617371
nEN-late	RPL11	0.26163394	0.000758437	Ribosomal subunit	BrainSpLMD|6135	OMIM|604175;HPO|6135|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Atresia of the external auditory canal, Autosomal dominant inheritance, Choanal atresia, Cleft palate, Delayed puberty, Fatigue, Fetal distress, Hearing impairment, Increased mean corpuscular volume, Intrauterine growth retardation, Macrocytic anemia, Migraine, Neutropenia, Osteopenia, Osteoporosis, Pallor, Patent ductus arteriosus, Polyhydramnios, Recurrent otitis media, Scoliosis, Secundum atrial septal defect, Short thumb, Small hypothenar eminence, Sprengel anomaly, Triphalangeal thumb, Ventricular septal defect, Vitamin D deficiency
nEN-late	DOCK4	0.645924398	0.000765118	GTPase activating protein	BrainSpLMD|9732	SFARI||Autism, No category;OMIM|607679
nEN-late	TBCK	0.411002941	0.000799244	Unclassified	BrainSpLMD|93627	OMIM|616899;HPO|93627|Abnormality of the periventricular white matter, Autosomal recessive inheritance, Brain atrophy, Bulbous nose, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral atrophy, Coarse facial features, Congenital onset, Dysplastic corpus callosum, Encephalopathy, Hypoplasia of the corpus callosum, Hyporeflexia, Narrow forehead, Poor speech, Prominent nasal bridge, Sloping forehead, Small basal ganglia, Tented upper lip vermilion, Thick vermilion border, Variable expressivity
nEN-late	FAM13A	0.50392227	0.000803954	Unclassified	BrainSpLMD|10144	OMIM|613299
nEN-late	C11orf73	0.376038919	0.000805271			
nEN-late	TOPBP1	0.412074374	0.000819503	Cell cycle control protein;Transcription regulatory protein	BrainSpLMD|11073	OMIM|607760
nEN-late	FTX	0.918671866	0.000823348			OMIM|300936
nEN-late	SGCB	0.30999229	0.000823635	Structural protein	BrainSpLMD|6443;Eurexp|euxassay_000202|cervico-thoracic, dorsal root ganglion, extraembryonic component, ganglion, glossopharyngeal IX, mantle layer, muscle, nerve trunk, skeletal muscle, thoracic, trigeminal V, vagus X, ventral grey horn, vertebral axis muscle system	OMIM|600900;HPO|6443|Autosomal recessive inheritance, Calf muscle pseudohypertrophy, Elevated serum creatine phosphokinase, Juvenile onset, Limb-girdle muscle weakness, Muscular dystrophy, Pelvic girdle muscle atrophy, Proximal amyotrophy, Scapular winging, Shoulder girdle muscle atrophy
nEN-late	ELAVL2	0.614798258	0.000835767	RNA binding protein	BrainSpLMD|1993;Eurexp|euxassay_005246|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, oesophagus, olfactory, pharynx, respiratory, retina, spinal cord, stomach, testis, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|601673
nEN-late	CUTA	0.408435848	0.000868875	Unclassified	BrainSpLMD|51596	OMIM|616953
nEN-late	LDOC1L	0.266205201	0.000911762			
nEN-late	GOLGA8B	0.573337475	0.000920818	Unclassified	BrainSpLMD|440270	OMIM|609619
nEN-late	ZNF570	0.265114535	0.000960927	DNA binding protein	BrainSpLMD|148268	
nEN-late	FRMD4A	0.607220843	0.000970195	Cytoskeletal associated protein	BrainSpLMD|55691;Eurexp|euxassay_001880|dorsal root ganglion, glossopharyngeal IX, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|616305;HPO|55691|Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Ataxia, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Congenital microcephaly, Everted lower lip vermilion, Global developmental delay, Hirsutism, Intellectual disability, Long eyelashes, Low anterior hairline, Low-set ears, Narrow forehead, Posteriorly rotated ears, Protruding ear, Sparse hair, Strabismus, Thick eyebrow, Upper eyelid edema
nEN-late	EPHA5	0.630695235	0.000989972	Receptor tyrosine kinase	BrainSpLMD|2044;Eurexp|euxassay_018953|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|13617	OMIM|600004
nEN-late	RPL28	0.29049584	0.000992637	Ribosomal subunit	BrainSpLMD|6158	OMIM|603638
nEN-late	C14orf132	0.66553909	0.00099546	Unclassified	BrainSpLMD|56967	
nEN-late	RB1CC1	0.252942577	0.001005394	Transcription factor	BrainSpLMD|9821;Eurexp|euxassay_002229|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 5 - Hypothesized but untested;OMIM|606837;HPO|9821|Autosomal dominant inheritance, Breast carcinoma, Heterogeneous
nEN-late	RAE1	0.258556872	0.001045234	RNA binding protein	BrainSpLMD|8480	OMIM|603343
nEN-late	ATL1	0.415059645	0.001059495	GTPase	BrainSpLMD|51062	OMIM|606439;HPO|51062|Adult onset, Autoamputation, Autosomal dominant inheritance, Babinski sign, Degeneration of the lateral corticospinal tracts, Distal amyotrophy, Distal lower limb amyotrophy, Distal sensory impairment, Distal sensory loss of all modalities, Heterogeneous, Hyperreflexia, Impaired vibration sensation in the lower limbs, Incomplete penetrance, Insidious onset, Lower limb muscle weakness, Motor delay, Nail dysplasia, Nail dystrophy, Paraplegia, Paresthesia, Peripheral axonal neuropathy, Pes cavus, Progressive, Scoliosis, Spastic gait, Spastic paraplegia, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency, Variable expressivity
nEN-late	ZNF302	0.79591357	0.001099836	DNA binding protein	BrainSpLMD|55900	
nEN-late	ZNF738	0.276135742	0.001104402	Transcription regulatory protein	BrainSpLMD|148203	
nEN-late	G3BP2	0.327504526	0.00112618	Unclassified	BrainSpLMD|9908	
nEN-late	CTC.444N24.11	0.27824861	0.001149119			
nEN-late	CLIP3	0.318086625	0.001198304	Cytoskeletal associated protein	BrainSpLMD|25999	OMIM|607382
nEN-late	ZNF827	0.253688123	0.001224405	DNA binding protein	BrainSpLMD|152485	SFARI||Autism, No category
nEN-late	PPP2R3C	0.350881397	0.001229276	Calcium binding protein	BrainSpLMD|55012	OMIM|615902
nEN-late	LHX2	0.606695348	0.001258711	Transcription regulatory protein	BrainSpLMD|9355;BrainSpMouseDev|16641	OMIM|603759
nEN-late	ASXL3	0.481520072	0.001280749	Unclassified		SFARI||Autism, 1 - High confidence;OMIM|615115;HPO|80816|Anteverted nares, Feeding difficulties, Highly arched eyebrow, Severe global developmental delay, Severe postnatal growth retardation
nEN-late	COPA	0.253631877	0.001292785	Transport/cargo protein	BrainSpLMD|1314;Eurexp|euxassay_003303|clavicle, mandible, maxilla, rib	OMIM|601924
nEN-late	UGGT2	0.319832948	0.001361953	Enzyme: Glycosyltransferase	BrainSpLMD|55757	OMIM|605898
nEN-late	CNOT6L	0.290869353	0.001423484	Transcription regulatory protein	BrainSpLMD|246175;Eurexp|euxassay_003596|calyces, vibrissa	
nEN-late	DNAJC15	0.391874147	0.00146013	Unclassified	BrainSpLMD|29103;Eurexp|euxassay_002653|adrenal gland	OMIM|615339
nEN-late	ZNF430	0.498758936	0.001487206	DNA binding protein		
nEN-late	GOLIM4	0.276861641	0.001510839	Integral membrane protein	BrainSpLMD|27333	OMIM|606805
nEN-late	BRWD1	0.264155971	0.001523357	Transcription regulatory protein;Unclassified	BrainSpLMD|54014	
nEN-late	BMS1P1	0.727380899	0.001605716		BrainSpLMD|399761	
nEN-late	RUFY2	0.516257065	0.001633157	Unclassified	BrainSpLMD|55680	OMIM|610328
nEN-late	STXBP1	0.673493572	0.001642557	Transport/cargo protein	BrainSpLMD|6812	SFARI||Autism, 3 - Suggestive evidence;OMIM|602926;HPO|6812|Absent speech, Ataxia, Autosomal dominant inheritance, Cerebral atrophy, Cerebral hypomyelination, Cutaneous photosensitivity, Developmental regression, EEG abnormality, EEG with burst suppression, Epileptic encephalopathy, Epileptic spasms, Febrile seizures, Focal clonic seizures, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic seizures, Generalized tonic-clonic seizures, Hypoplasia of the corpus callosum, Hypsarrhythmia, Impaired horizontal smooth pursuit, Infantile encephalopathy, Intellectual disability, severe, Muscular hypotonia, Neonatal onset, Neurodevelopmental delay, Obtundation status, Pschomotor retardation, Severe global developmental delay, Spastic paraplegia, Spastic tetraplegia, Status epilepticus, Tremor, Variable expressivity
nEN-late	WSB1	0.404402529	0.001653598	Unclassified	BrainSpLMD|26118;Eurexp|euxassay_005031|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610091
nEN-late	PDE7A	0.805728483	0.001706085	Enzyme: Phosphodiesterase	BrainSpLMD|5150	OMIM|171885
nEN-late	FRG1B	0.376260915	0.001763109			
nEN-late	CBLB	0.701618967	0.001785265	Adapter molecule	BrainSpLMD|868;Eurexp|euxassay_012817|extrinsic ocular muscle, incisor, mantle layer, marginal layer, ventricular layer	OMIM|604491;COSMIC||AML
nEN-late	NGFRAP1	0.394823146	0.001809647			
nEN-late	C1orf43	0.318680071	0.001844769	Unclassified	BrainSpLMD|25912	OMIM|617428
nEN-late	CNKSR2	0.866884966	0.00193946	Unclassified	BrainSpLMD|22866	SFARI||Autism, 3 - Suggestive evidence;OMIM|300724;HPO|22866|Intellectual disability
nEN-late	WDR36	0.387109438	0.001959281	Unclassified	BrainSpLMD|134430;Eurexp|euxassay_011586|left lung, liver, metanephros, midgut, pancreas, primitive seminiferous tubules, right lung, submandibular gland primordium	OMIM|609669;HPO|134430|Open angle glaucoma
nEN-late	RHOT1	0.450242788	0.002009178	GTPase	BrainSpLMD|55288	OMIM|613888
nEN-late	SRGAP3	0.463239158	0.002010266	GTPase activating protein	BrainSpLMD|9901	SFARI||Autism, 4 - Minimal evidence;OMIM|606525;COSMIC||pilocytic astrocytoma
nEN-late	SMARCAD1	0.448888988	0.002021276	DNA helicase	BrainSpLMD|56916	OMIM|612761;HPO|56916|Abnormal blistering of the skin, Abnormal dermatoglyphics, Adermatoglyphia, Autosomal dominant inheritance, Camptodactyly of finger, Clubbing, Ectodermal dysplasia, Epidermal acanthosis, Flexion contracture, Hypohidrosis, Milia, Palmar hyperkeratosis, Single transverse palmar crease, Skin rash, Tapered finger, Thickened skin, Thin skin
nEN-late	DNAJC13	0.452906819	0.002026525	Unclassified;Chaperone	BrainSpLMD|23317;Eurexp|euxassay_010999|thymus primordium	OMIM|614334;HPO|23317|Autosomal dominant inheritance, Bradykinesia, Lewy bodies, Parkinsonism, Postural instability, Rigidity, Slow progression, Tremor
nEN-late	TIAL1	0.344085756	0.002052923	RNA binding protein	BrainSpLMD|7073;Eurexp|euxassay_010582|mantle layer	OMIM|603413
nEN-late	NHSL1	0.351415694	0.002063659	Unclassified		
nEN-late	ESF1	0.318433359	0.002073687	Unclassified	BrainSpLMD|51575	
nEN-late	CDH4	0.501130188	0.002137721	Adhesion molecule	BrainSpLMD|1002;BrainSpMouseDev|12346	OMIM|603006
nEN-late	PSMG4	1.047867603	0.002165256	Unclassified		OMIM|617550
nEN-late	LPPR4	0.914357656	0.002343824			
nEN-late	RP11.260M2.1	0.260412121	0.002354175			
nEN-late	ZDHHC17	0.396633489	0.002449588	Unclassified	BrainSpLMD|23390	OMIM|607799
nEN-late	RP11.296E7.1	0.348552978	0.002480071			
nEN-late	KBTBD2	0.486397193	0.002569659	Cytoskeletal associated protein	BrainSpLMD|25948	
nEN-late	ATP9A	0.479626536	0.002626245	ATPase		OMIM|609126
nEN-late	GON4L	0.268373791	0.002683335	DNA binding protein	BrainSpLMD|54856	OMIM|610393
nEN-late	PDCD11	0.306196443	0.002710929	Transcription regulatory protein	BrainSpLMD|22984;Eurexp|euxassay_005987|thymus primordium	OMIM|612333
nEN-late	SSR2	0.256927073	0.002717855	Transport/cargo protein	BrainSpLMD|6746;Eurexp|euxassay_002335|cranium, orbito-sphenoid	OMIM|600867
nEN-late	NR2F1	0.506615091	0.002795126	Nuclear receptor	BrainSpLMD|7025;BrainSpMouseDev|13643	SFARI||Autism, 4 - Minimal evidence;OMIM|132890;HPO|7025|Autosomal dominant inheritance, Global developmental delay, Intellectual disability, Nystagmus, Optic atrophy, Optic disc pallor, Reduced visual acuity, Strabismus, Tapered finger, Visual field defect, Visual impairment
nEN-late	TIA1	0.333932891	0.002815679	RNA binding protein	BrainSpLMD|7072;Eurexp|euxassay_014503|brain, spinal cord	OMIM|603518;HPO|7072|Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Distal amyotrophy, Distal muscle weakness, Mildly elevated creatine phosphokinase, Myopathy, Rimmed vacuoles, Slow progression, Steppage gait
nEN-late	DICER1	0.356821331	0.002833572	Ribonuclease	BrainSpLMD|23405;Eurexp|euxassay_018948|dorsal root ganglion, glossopharyngeal IX, olfactory, submandibular gland primordium, trigeminal V, ventricular layer, vibrissa	OMIM|606241;COSMIC||sex cord-stromal tumour, TGCT, embryonal rhabdomyosarcoma, pleuropulmonary blastoma, pituitary blastoma, Wilms tumour, thyroid cancer, other tumour types, pleuropulmonary blastoma;HPO|23405|Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Basal cell carcinoma, Colorectal polyposis, Embryonal rhabdomyosarcoma, Euthyroid multinodular goiter, Familial predisposition, Medulloblastoma, Multinodular goiter, Ovarian neoplasm, Papillary thyroid carcinoma, Pleuropulmonary blastoma, Renal cell carcinoma, Rhabdomyosarcoma, Sertoli cell neoplasm, Testicular seminoma
nEN-late	LINC01420	0.334975192	0.002843539			
nEN-late	NDUFB11	0.446558407	0.002885229	Enzyme: Oxidoreductase	BrainSpLMD|54539	OMIM|300403;HPO|54539|Abnormal facial shape, Abnormality of retinal pigmentation, Abnormality of the cardiac septa, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Agenesis of corpus callosum, Anophthalmia, Arrhythmia, Cardiac arrest, Congenital diaphragmatic hernia, Dermal atrophy, Dilated cardiomyopathy, Dilation of lateral ventricles, Erythema, Failure to thrive, Hyperpigmentation of the skin, Hypertrophic cardiomyopathy, Hypopigmented skin patches, Lacrimal duct atresia, Mandibular aplasia, Micrognathia, Microphthalmia, Midface retrusion, Muscular hypotonia of the trunk, Myopia, Nystagmus, Retrognathia, Sclerocornea, Seizures, Severe short stature, Strabismus, Ventricular fibrillation, Ventricular tachycardia, Vitritis, Wide nasal bridge, Wide nose, X-linked dominant inheritance
nEN-late	HN1	0.423688532	0.002913525			
nEN-late	MEX3B	0.570746413	0.002988301	Ubiquitin proteasome system protein	BrainSpLMD|84206	OMIM|611008
nEN-late	B3GALT1	0.805456756	0.002995268	Enzyme: Galactosyltransferase	BrainSpLMD|8708	OMIM|603093
nEN-late	PPP6C	0.294283028	0.003063034	Serine/threonine phosphatase	BrainSpLMD|5537	OMIM|612725;COSMIC||melanoma
nEN-late	NCS1	0.511303879	0.003181914	Calcium binding protein	BrainSpLMD|23413	OMIM|603315
nEN-late	EXOSC10	0.260217739	0.003328612	Unclassified	BrainSpLMD|5394	OMIM|605960
nEN-late	GNAI1	0.949169095	0.003408314	G protein	BrainSpLMD|2770;Eurexp|euxassay_009056|dorsal root ganglion	OMIM|139310
nEN-late	BCL7A	0.594149112	0.003414012	Adapter molecule	Eurexp|euxassay_009092|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, medulla oblongata, metanephros, metencephalon, midbrain, molar, neural retina, olfactory, spinal cord, telencephalon, thymus primordium, thyroid, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|601406;COSMIC||BNHL
nEN-late	RNPC3	0.428452712	0.003551431	RNA binding protein	BrainSpLMD|55599;Eurexp|euxassay_013667|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vomeronasal organ	
nEN-late	FHL1	0.380539559	0.003608906	Unclassified	BrainSpLMD|2273;Eurexp|euxassay_018418|bladder, brain, diaphragm, dorsal root ganglion, head mesenchyme, limb, penis, rectum, spinal cord, tongue, vertebral axis muscle system	OMIM|300163;HPO|2273|Adult onset, Areflexia, Arrhythmia, Back pain, Elevated serum creatine phosphokinase, Flexion contracture, Foot dorsiflexor weakness, Frequent falls, Hyperlordosis, Hypertrophic cardiomyopathy, Hyporeflexia, Increased variability in muscle fiber diameter, Kyphosis, Lower limb muscle weakness, Myofibrillar myopathy, Progressive, Proximal muscle weakness, Rapidly progressive, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Rimmed vacuoles, Scapular winging, Scapuloperoneal myopathy, Scapuloperoneal weakness, Scoliosis, Short neck, Skeletal muscle atrophy, Spinal rigidity, Steppage gait, Waddling gait, X-linked dominant inheritance, X-linked inheritance, X-linked recessive inheritance
nEN-late	JPX	0.357641794	0.003716496		BrainSpLMD|554203	OMIM|300832
nEN-late	MBTPS1	0.317865037	0.003722468	Protease	BrainSpLMD|8720	OMIM|603355
nEN-late	VTA1	0.439035272	0.003783055	Unclassified	BrainSpLMD|51534	OMIM|610902
nEN-late	C2orf68	0.382554812	0.00379455	Unclassified		
nEN-late	SMS	0.632357705	0.003860503	Enzyme: Synthase	Eurexp|euxassay_011541|cervical, cervico-thoracic, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, incisor, left lung, mantle layer, metanephros, molar, neural retina, right lung, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|300105;HPO|6611|Abnormality of the pinna, Bifid uvula, Broad-based gait, Cleft palate, Cryptorchidism, Decreased muscle mass, Dental crowding, Dysarthria, Facial asymmetry, Generalized hypotonia, High, narrow palate, Hyperextensibility of the finger joints, Hypertelorism, Intellectual disability, Kyphoscoliosis, Long fingers, Long hallux, Long palm, Mandibular prognathia, Narrow palm, Nasal speech, Osteoporosis, Pectus carinatum, Pectus excavatum, Phenotypic variability, Recurrent fractures, Seizures, Severe Myopia, Short philtrum, Short stature, Talipes equinovarus, Tall stature, Thick lower lip vermilion, Webbed neck, Wide intermamillary distance, X-linked recessive inheritance
nEN-late	XRCC5	0.358233321	0.003911105	DNA binding protein	BrainSpLMD|7520;Eurexp|euxassay_009101|thymus primordium	OMIM|194364
nEN-late	LINC01122	0.809127861	0.003961866			
nEN-late	PRPF6	0.668441577	0.003966338	Adapter molecule	BrainSpLMD|24148	OMIM|613979;HPO|24148|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Reduced visual acuity, Rod-cone dystrophy, Sensorineural hearing impairment, Visual impairment, Wide nasal bridge
nEN-late	ACADM	0.259742259	0.003978063	Enzyme: Dehydrogenase	BrainSpLMD|34	OMIM|607008;HPO|34|Autosomal recessive inheritance, Cerebral edema, Coma, Decreased plasma carnitine, Elevated hepatic transaminases, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hepatomegaly, Hyperglycinuria, Hypoglycemia, Lethargy, Medium chain dicarboxylic aciduria, Metabolic acidosis, Seizures, Vomiting
nEN-late	PSMF1	0.301658692	0.004040116	Protease inhibitor	BrainSpLMD|9491	
nEN-late	CWC27	0.567596566	0.004066355	Enzyme: Isomerase	BrainSpLMD|10283	OMIM|617170;HPO|10283|Autosomal recessive inheritance, Brachydactyly, Craniosynostosis, Delayed speech and language development, Downslanted palpebral fissures, Feeding difficulties, Frontal bossing, Global developmental delay, Horseshoe kidney, Intellectual disability, Low-set ears, Macrotia, Metaphyseal chondrodysplasia, Micrognathia, Renal cyst, Rod-cone dystrophy, Short distal phalanx of finger, Short metacarpal, Short stature, Underdeveloped nasal alae, Ventricular septal defect
nEN-late	TMOD3	0.500933818	0.004085893	Cytoskeletal associated protein	BrainSpLMD|29766;Eurexp|euxassay_005515|clavicle, mandible, maxilla, orbito-sphenoid, rib	OMIM|605112
nEN-late	COPS4	0.509693656	0.00410791	Unclassified	BrainSpLMD|51138	OMIM|616008
nEN-late	SCAMP1	0.406666544	0.004110037	Membrane transport protein	BrainSpLMD|9522	OMIM|606911
nEN-late	TSG101	0.384742806	0.00413226	Ubiquitin proteasome system protein	BrainSpLMD|7251;Eurexp|euxassay_002131|brain, cervical, cervico-thoracic, dorsal root ganglion, spinal cord, thoracic, trigeminal V	OMIM|601387;HPO|7251|Autosomal dominant inheritance, Breast carcinoma, Heterogeneous
nEN-late	INO80D	0.310122989	0.004185233	Unclassified	BrainSpLMD|54891	
nEN-late	ZBTB44	0.52404582	0.004246669	DNA binding protein	BrainSpLMD|29068	
nEN-late	INPP5F	0.614258858	0.004291015	Lipid phosphatase	BrainSpLMD|22876;Eurexp|euxassay_008227|ventricle	OMIM|609389
nEN-late	FSD1L	0.480374404	0.004372383	Unclassified	BrainSpLMD|83856	OMIM|609829
nEN-late	SCNM1	0.505712833	0.004576876	Unclassified	BrainSpLMD|79005	OMIM|608095
nEN-late	CBFA2T2	0.547588818	0.00471228	Transcription factor	BrainSpLMD|9139;Eurexp|euxassay_019496|lung, marginal layer, neural retina, olfactory, pituitary, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|12181	OMIM|603672
nEN-late	ORC3	0.349107701	0.00481305	DNA binding protein	BrainSpLMD|23595	OMIM|604972
nEN-late	CCDC66	0.333842743	0.004860805	Unclassified	Eurexp|euxassay_000144|dorsal root ganglion, lung, metanephros, nucleus pulposus, spinal cord, trigeminal V, vagus X, ventricular layer, vibrissa	
nEN-late	CCDC93	0.304963119	0.004935606	Unclassified	BrainSpLMD|54520;Eurexp|euxassay_019257|adrenal gland, diencephalon, floorplate, medulla	
nEN-late	KCNN3	0.912406276	0.004947562	Intracellular ligand gated channel	BrainSpLMD|3782	OMIM|602983
nEN-late	ARPC5	0.357080318	0.005038499	Cytoskeletal associated protein	BrainSpLMD|10092;Eurexp|euxassay_005699|embryo	OMIM|604227
nEN-late	SUN1	0.627813852	0.005218796	Integral membrane protein	BrainSpLMD|23353	OMIM|607723
nEN-late	RPL34	0.280088227	0.0053125	Ribosomal subunit	Eurexp|euxassay_007041|embryo	OMIM|616862
nEN-late	ING4	0.756621963	0.005352513	Transcription regulatory protein	BrainSpLMD|51147;Eurexp|euxassay_011920|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, mesenchyme, naris, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, radius, rib, scapula, sternum, tibia, turbinate bones, ulna, vault of skull	OMIM|608524
nEN-late	TAF2	0.426398307	0.00539569	Transcription factor	BrainSpLMD|6873	OMIM|604912;HPO|6873|Autosomal recessive inheritance, Babinski sign, Delayed myelination, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Intellectual disability, Microcephaly, Poor speech, Postnatal microcephaly, Spasticity
nEN-late	FRMD4B	0.500484947	0.005625688	Unclassified		OMIM|617467
nEN-late	EXOC1	0.641047253	0.005798052	Transport/cargo protein	BrainSpLMD|55763	OMIM|607879
nEN-late	YLPM1	0.260652502	0.005990993	Unclassified	BrainSpLMD|56252	
nEN-late	CHD6	0.520297546	0.00608587	DNA binding protein	BrainSpLMD|84181	OMIM|616114
nEN-late	PHTF2	0.482075757	0.006112885	Transcription factor	BrainSpLMD|57157;Eurexp|euxassay_004990|embryo;BrainSpMouseDev|44612	OMIM|616785
nEN-late	MARK1	0.288417092	0.006246055	Serine/threonine kinase	BrainSpLMD|4139;Eurexp|euxassay_013555|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	SFARI||Autism, 4 - Minimal evidence;OMIM|606511
nEN-late	RPL31	0.27073782	0.006309089	Ribosomal subunit	BrainSpLMD|6160	OMIM|617415
nEN-late	MAP4K3	0.312958534	0.006460711	Serine/threonine kinase	BrainSpLMD|8491	OMIM|604921
nEN-late	DCAF10	0.401310427	0.006725496	Unclassified	BrainSpLMD|79269	
nEN-late	ZNF281	0.318459493	0.006782129	Transcription regulatory protein	BrainSpLMD|23528;Eurexp|euxassay_007265|fundus region, lung, urethra, vertebral axis muscle system	
nEN-late	ZNF557	0.294084009	0.006863377	Unclassified	BrainSpLMD|79230	
nEN-late	RPL29	0.271807023	0.00707615	Ribosomal subunit		OMIM|601832
nEN-late	PHF21A	0.31032887	0.007096616	Transcription regulatory protein	BrainSpLMD|51317	OMIM|608325;HPO|51317|Brachycephaly, Broad nasal tip, Decreased skull ossification, Depressed nasal tip, Downturned corners of mouth, Epicanthus, Exostoses, Global developmental delay, Micrognathia, Micropenis, Nystagmus, Parietal foramina, Prominent nasal bridge, Seizures, Short philtrum, Strabismus, Underdeveloped nasal alae
nEN-late	CSNK2A1	0.274533206	0.00714252	Serine/threonine kinase	BrainSpLMD|1457;BrainSpMouseDev|12778	OMIM|115440;HPO|1457|Anteverted nares, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Brachydactyly, Clinodactyly, Constipation, Cortical gyral simplification, Delayed speech and language development, Epicanthus, Feeding difficulties, Generalized hypotonia, Global developmental delay, High palate, Highly arched eyebrow, Hypertelorism, IgA deficiency, IgG deficiency, Intellectual disability, Low-set ears, Microcephaly, Micrognathia, Phenotypic variability, Ptosis, Synophrys, Thin upper lip vermilion, Wide nasal bridge
nEN-late	RPL12	0.382621434	0.007232421	Ribosomal subunit		OMIM|180475
nEN-late	RSL1D1	0.332316327	0.007421521	Unclassified	BrainSpLMD|26156	OMIM|615874
nEN-late	EIF1B	0.320661878	0.007596306	Translation regulatory protein	BrainSpLMD|10289;Eurexp|euxassay_011475|mantle layer, ventricular layer	
nEN-late	FRA10AC1	0.453844932	0.007613744	Unclassified	BrainSpLMD|118924	OMIM|608866
nEN-late	IVNS1ABP	0.418240721	0.007648697	Unclassified	BrainSpLMD|10625;Eurexp|euxassay_011634|axial muscle, axial skeleton, cervical, cervico-thoracic, clavicle, cochlea, corpus striatum, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lateral ventricle, lip, lung, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, molar, neural retina, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, pituitary, renal/urinary system, saccule, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trachea, trigeminal V, ventricle, ventricular layer, vibrissa	OMIM|609209
nEN-late	MYSM1	0.458735223	0.007714245	DNA binding protein	BrainSpLMD|114803	OMIM|612176
nEN-late	RAB30	0.267741871	0.007747355	GTPase	BrainSpLMD|27314;Eurexp|euxassay_002971|basal plate, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|605693
nEN-late	UBA6	0.35708375	0.007950353	Ubiquitin proteasome system protein	BrainSpLMD|55236	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611361
nEN-late	GAP43	0.416258663	0.007979709	Growth factor	BrainSpLMD|2596;Eurexp|euxassay_002973|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, midgut, nasal capsule, olfactory, rectum, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|14208	SFARI||Autism, 5 - Hypothesized but untested;OMIM|162060
nEN-late	DENND4A	0.461350404	0.008099437	Transcription factor	BrainSpLMD|10260	OMIM|600382
nEN-late	UTP11L	0.323984863	0.008508826			
nEN-late	BEX1	0.586944692	0.008547832	Unclassified	BrainSpLMD|55859;Eurexp|euxassay_009948|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, metanephros, midgut, neural retina, olfactory, pancreas, paraxial mesenchyme, primitive seminiferous tubules, rest of mesenchyme, right lung, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|300690
nEN-late	FAM168B	0.26077793	0.008615269	Unclassified	BrainSpLMD|130074	
nEN-late	MTRNR2L12	0.397461472	0.008627758			
nEN-late	TACC2	0.445207661	0.008707443	Cell cycle control protein	BrainSpLMD|10579	OMIM|605302
nEN-late	FOXN2	0.607486283	0.00879029	DNA binding protein	BrainSpLMD|3344;Eurexp|euxassay_019499|incisor, liver, lung, mandible, mantle layer, marginal layer, maxilla, molar, submandibular gland primordium, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|14013	OMIM|143089
nEN-late	SLC22A23	0.602126813	0.009012444	Integral membrane protein	BrainSpLMD|63027	OMIM|611697
nEN-late	UBE2Z	0.539733962	0.009161025	Ubiquitin proteasome system protein	BrainSpLMD|65264	OMIM|611362
nEN-late	KIAA0430	0.296780193	0.009216015			
nEN-late	CREB1	0.414603265	0.0095366	Transcription factor	BrainSpLMD|1385;Eurexp|euxassay_018374|embryo;BrainSpMouseDev|12695	OMIM|123810;COSMIC||clear cell sarcoma, angiomatoid fibrous histiocytoma;HPO|1385|Histiocytoma, Somatic mutation
nEN-late	SFSWAP	0.542133765	0.009657857	RNA binding protein	BrainSpLMD|6433	OMIM|601945
nEN-late	ARFGEF1	0.251883965	0.009797786	Guanine nucleotide exchange factor	BrainSpLMD|10565	OMIM|604141
EN-V1-1	CRYM	3.338058382	0	Enzyme: Deaminase	BrainSpLMD|1428;Eurexp|euxassay_004117|associated mesenchyme, cochlea, genital tubercle, incisor, mantle layer, marginal layer, medullary stroma, mesenchyme, molar, nasal cavity, perioptic mesenchyme, utricle, ventricular layer;BrainSpMouseDev|12754	OMIM|123740;HPO|1428|Autosomal dominant inheritance, Sensorineural hearing impairment
EN-V1-1	FEZF2	3.117083544	0	Transcription factor	BrainSpLMD|55079;Eurexp|euxassay_009770|mantle layer, ventricular layer, vomeronasal organ;BrainSpMouseDev|34002	SFARI||Autism, 4 - Minimal evidence;OMIM|607414
EN-V1-1	ZFPM2	2.975125186	0	Transcription regulatory protein	BrainSpLMD|23414;Eurexp|euxassay_009941|mantle layer;BrainSpMouseDev|22519	OMIM|603693;HPO|23414|Abnormal nasal morphology, Abnormal sex determination, Abnormality of the labia, Abnormality of the scrotum, Ambiguous genitalia, Autosomal dominant inheritance, Azoospermia, Brachydactyly, Broad forehead, Clinodactyly of the 5th finger, Clitoral hypertrophy, Congenital diaphragmatic hernia, Cryptorchidism, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Dolichocephaly, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,XY karyotype, Fused labia minora, Gonadal dysgenesis, Gynecomastia, Hypergonadotropic hypogonadism, Hypoplasia of the vagina, Hypospadias, Intrauterine growth retardation, Male infertility, Micropenis, Osteoporosis, Preauricular pit, Primary amenorrhea, Proptosis, Sex reversal, Sparse axillary hair, Sparse pubic hair, Streak ovary, Tetralogy of Fallot, Thin vermilion border, Underdeveloped supraorbital ridges, Urogenital sinus anomaly, Vanishing testis
EN-V1-1	RGS6	2.967259915	0	GTPase activating protein	BrainSpLMD|9628	OMIM|603894
EN-V1-1	PEX5L	2.903883827	0	Unclassified	BrainSpLMD|51555;BrainSpMouseDev|37432	OMIM|611058
EN-V1-1	TSHZ3	2.798640234	0	DNA binding protein	BrainSpLMD|57616;Eurexp|euxassay_005648|dorsal root ganglion	SFARI||Autism, 4 - Minimal evidence;OMIM|614119
EN-V1-1	VSNL1	2.777019632	0	Calcium binding protein	BrainSpLMD|7447	OMIM|600817
EN-V1-1	HS3ST4	2.672260566	0	Enzyme: Sulphotransferase	BrainSpLMD|9951;Eurexp|euxassay_013327|mantle layer	OMIM|604059
EN-V1-1	KLHL1	2.670177816	0	Cytoskeletal associated protein	BrainSpLMD|57626;Eurexp|euxassay_011007|extrinsic ocular muscle, mantle layer, ventral grey horn	OMIM|605332
EN-V1-1	SEMA3E	2.646663356	0	Extracellular matrix protein	BrainSpLMD|9723;Eurexp|euxassay_002631|cochlea, lung, mantle layer, naris, olfactory, respiratory;BrainSpMouseDev|20112	OMIM|608166;HPO|9723|Abnormality of female internal genitalia, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Anophthalmia, Anosmia, Anterior hypopituitarism, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bifid scrotum, Choanal atresia, Chorioretinal coloboma, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased testicular size, Delayed eruption of teeth, Delayed puberty, Depressed nasal bridge, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Duodenal atresia, Dysphagia, Esophageal atresia, External ear malformation, Facial asymmetry, Facial palsy, Feeding difficulties, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypothyroidism, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphopenia, Malar flattening, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Ptosis, Pulmonic stenosis, Sparse axillary hair, Sparse pubic hair, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Umbilical hernia, Ventricular septal defect
EN-V1-1	SERPINI1	2.610793743	0	Protease inhibitor	BrainSpLMD|5274;Eurexp|euxassay_007129|embryo	OMIM|602445;HPO|5274|Abnormality of extrapyramidal motor function, Autosomal dominant inheritance, Cerebral atrophy, Dementia, Diplopia, Distal sensory impairment, Dysarthria, Encephalopathy, Gliosis, Myoclonus, Neuronal loss in central nervous system, Nystagmus, Seizures
EN-V1-1	NPR3	2.60234984	0	Cell surface receptor	BrainSpLMD|4883;Eurexp|euxassay_010728|atrium, calyces, choroid invagination, choroid plexus, cochlea, cornea, endocardial tissue, endolymphatic duct, left lung, mantle layer, mesenchyme, pancreas, right lung, roof plate, utricle	OMIM|108962
EN-V1-1	CLSTN2	2.585559344	0	Calcium binding protein	BrainSpLMD|64084;BrainSpMouseDev|40718	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611323
EN-V1-1	TRPM3	2.549569021	0	Ion channel	BrainSpLMD|80036	OMIM|608961
EN-V1-1	RP11.29G8.3	2.516420398	0			
EN-V1-1	GPR37	2.507431285	0	G protein coupled receptor	BrainSpLMD|2861;Eurexp|euxassay_005522|facial VII, floor plate, floorplate, neural retina, skeletal muscle, testis, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|14539	SFARI||Autism, 4 - Minimal evidence;OMIM|602583
EN-V1-1	GPRIN3	2.425282294	0	Unclassified	BrainSpLMD|285513	OMIM|611241
EN-V1-1	B3GNT2	2.398512665	0	Enzyme: Transferase	BrainSpLMD|10678;BrainSpMouseDev|32943	OMIM|605581
EN-V1-1	OPCML	2.371733937	0	Adhesion molecule	BrainSpLMD|4978;Eurexp|euxassay_011103|dorsal root ganglion, epithalamus, facial VII, glossopharyngeal IX, mantle layer, marginal layer, tongue, trigeminal V	OMIM|600632
EN-V1-1	KCTD12	2.337263565	0	Ion channel	BrainSpLMD|115207;BrainSpMouseDev|88550	OMIM|610521
EN-V1-1	CHST15	2.259069117	0	Enzyme: Sulphotransferase	Eurexp|euxassay_004543|bladder, clavicle, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, hindgut, incisor, loop, mandible, mantle layer, marginal layer, maxilla, metatarsus, midgut, molar, neural retina, oculomotor III, penis, rectum, rib, stomach, stroma, trigeminal V, trochlear IV, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|608277
EN-V1-1	SLC35F2	2.209982949	0	Membrane transport protein	BrainSpLMD|54733;Eurexp|euxassay_003909|genital tubercle, incisor, lateral wall, lung, mantle layer, metanephros, midgut, molar, naris, olfactory lobe, palatal shelf, pancreas, rectum, respiratory, submandibular gland primordium, thymus primordium, turbinate bones	
EN-V1-1	ELMOD1	2.17110457	0	Unclassified	BrainSpLMD|55531;Eurexp|euxassay_015979|mantle layer, ventral grey horn, vibrissa	OMIM|615456
EN-V1-1	LMO7	2.155964413	0	Transcription regulatory protein	BrainSpLMD|4008	OMIM|604362
EN-V1-1	NHLH2	2.137705325	0	Transcription factor	BrainSpLMD|4808;Eurexp|euxassay_019487|dorsal root ganglion, mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|17839	OMIM|162361
EN-V1-1	SYT6	2.115886239	0	Calcium binding protein	BrainSpLMD|148281	OMIM|607718
EN-V1-1	RP11.642D21.1	2.114652679	0			
EN-V1-1	GABRA3	2.113875552	0	Transport/cargo protein	BrainSpLMD|2556;BrainSpMouseDev|14172	SFARI||Autism, No category;OMIM|305660;HPO|2556|Constipation, Decreased urinary potassium, EMG abnormality, Episodic flaccid weakness, Episodic hypokalemia, Exercise-induced muscle fatigue, Graves disease, Hyperhidrosis, Hypomagnesemia, Hyporeflexia, Increased intramyocellular lipid droplets, Lower limb muscle weakness, Mildly elevated creatine phosphokinase, Muscle cramps, Muscle stiffness, Obesity, Palpitations, Periodic hypokalemic paresis, Postprandial hyperglycemia, Rhabdomyolysis, Tetraplegia, Thyrotoxicosis with toxic multinodular goitre, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Tremor, Urinary retention, Weight loss
EN-V1-1	SORCS1	2.077934386	0	Cell surface receptor	BrainSpLMD|114815;Eurexp|euxassay_005027|dorsal root ganglion, frenulum, mantle layer, marginal layer, mesenchyme, neural retina, penis, trigeminal V, urethra, ventricular layer, wall	OMIM|606283
EN-V1-1	KHDRBS3	2.063090059	0	RNA binding protein	BrainSpLMD|10656	SFARI||Autism, 5 - Hypothesized but untested;OMIM|610421
EN-V1-1	B3GAT1	2.055698354	0	Integral membrane protein	BrainSpLMD|27087;Eurexp|euxassay_012950|mantle layer	OMIM|151290
EN-V1-1	MYO5B	2.055650207	0	Structural protein	BrainSpLMD|4645;Eurexp|euxassay_010054|choroid plexus, cortex, mantle layer, midgut, skeletal muscle, vestibulocochlear VIII	OMIM|606540;HPO|4645|Autosomal recessive inheritance, Death in infancy, Dehydration, Growth delay, Malnutrition, Protracted diarrhea, Villous atrophy
EN-V1-1	LPL	2.022415767	0	Enzyme: Lipase	BrainSpLMD|4023;Eurexp|euxassay_004410|anterior, atrium, choroid plexus, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, liver, mantle layer, marginal layer, mesenchyme, olfactory, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, ventricle;BrainSpMouseDev|16726	SFARI||Autism, No category;OMIM|609708;HPO|4023|Autosomal dominant inheritance, Autosomal recessive inheritance, Episodic abdominal pain, Eruptive xanthomas, Hepatosplenomegaly, Hypercholesterolemia, Increased circulating chylomicron levels, Increased circulating low-density lipoprotein levels, Increased circulating very-low-density lipoprotein levels, Jaundice, Lactescent serum, Lipemia retinalis, Myocardial infarction, Nausea, Pancreatitis, Splenomegaly, Vomiting
EN-V1-1	GRM5	2.01932261	0	G protein coupled receptor	BrainSpLMD|2915;Eurexp|euxassay_016595|mantle layer;BrainSpMouseDev|72233	SFARI||Autism, No category;OMIM|604102
EN-V1-1	KIAA1644	1.970832173	0			
EN-V1-1	DPP10	1.952092049	0	Aminopeptidase;Protease	BrainSpLMD|57628	SFARI||Autism, 3 - Suggestive evidence;OMIM|608209
EN-V1-1	GLB1L2	1.949980809	0	Unclassified	BrainSpLMD|89944;Eurexp|euxassay_008223|anterior, bladder, calyces, molar, olfactory, pelvis, ureter, vestibulocochlear VIII	
EN-V1-1	EGFEM1P	1.938512759	0			
EN-V1-1	LRRTM4	1.935827117	0	Integral membrane protein	BrainSpLMD|80059;Eurexp|euxassay_013925|mantle layer, marginal layer, tegmentum	OMIM|610870
EN-V1-1	CPNE5	1.930499578	0	Transport/cargo protein	BrainSpLMD|57699	OMIM|604209
EN-V1-1	MGLL	1.92869852	0	Enzyme: Lipase	BrainSpLMD|11343;Eurexp|euxassay_002003|Meckel's cartilage, dorsal grey horn, dorsal root ganglion, foregut-midgut junction, hindgut, lobe, mantle layer, marginal layer, midgut, oesophagus, pancreas, stomach, ventricular layer, vibrissa	OMIM|609699
EN-V1-1	SOX5	1.922447019	0	Transcription factor	BrainSpLMD|6660;BrainSpMouseDev|20440	SFARI||Autism, No category;OMIM|604975;HPO|6660|2-3 toe syndactyly, Abnormality of brain morphology, Anxiety, Autosomal dominant inheritance, Bulbous nose, Clinodactyly, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Exaggerated median tongue furrow, Exotropia, Facial asymmetry, Frontal bossing, Generalized hypotonia, Global developmental delay, Hyperplasia of the maxilla, Intellectual disability, Low-set ears, Lumbar hyperlordosis, Motor delay, Muscular hypotonia, Myopia, Narrow palate, Open mouth, Optic atrophy, Pectus carinatum, Phenotypic variability, Posteriorly rotated ears, Scoliosis, Strabismus, Thoracic kyphoscoliosis, Vertebral fusion, Wide nasal bridge
EN-V1-1	IGFBP5	1.909244677	0	Adhesion molecule	BrainSpLMD|3488;Eurexp|euxassay_001623|limb, tail, vertebral axis muscle system;BrainSpMouseDev|15784	OMIM|146734
EN-V1-1	PDZD2	1.907348092	0	Unclassified	BrainSpLMD|23037;BrainSpMouseDev|43913	OMIM|610697
EN-V1-1	PAPPA2	1.862784835	0	Metallo protease	BrainSpLMD|60676;Eurexp|euxassay_019547|adrenal gland, clavicle, dorsal root ganglion, glossopharyngeal IX, incisor, mandible, mantle layer, molar, trigeminal V;BrainSpMouseDev|23603	
EN-V1-1	SYT16	1.862120856	0	Membrane transport protein	BrainSpLMD|83851;Eurexp|euxassay_009743|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	OMIM|610950
EN-V1-1	ST18	1.854919655	0	Transcription regulatory protein	BrainSpLMD|9705;BrainSpMouseDev|88752	OMIM|617155
EN-V1-1	NPAS2	1.846397916	0	Transcription factor	BrainSpLMD|4862;BrainSpMouseDev|17910	SFARI||Autism, 4 - Minimal evidence;OMIM|603347
EN-V1-1	EPB41L4A	1.836226972	0	Structural protein	BrainSpLMD|64097;Eurexp|euxassay_010576|anterior, basal columns, cervical, cervico-thoracic, choroid invagination, choroid plexus, dorsal root ganglion, ear, facial VII, glossopharyngeal IX, incisor, lens, mantle layer, marginal layer, midgut, molar, neural retina, olfactory, rectum, rest of skin, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|612141
EN-V1-1	WASF1	1.836018393	0	Adapter molecule	BrainSpLMD|8936;Eurexp|euxassay_004192|brain, dorsal root ganglion, glossopharyngeal IX, incisor, molar, spinal cord, trigeminal V, vagus X	OMIM|605035
EN-V1-1	AGAP1	1.825968141	0	GTPase activating protein	BrainSpLMD|116987;Eurexp|euxassay_015873|basal plate, cerebellum, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, medulla oblongata, molar, neural retina, olfactory, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, 4 - Minimal evidence;OMIM|608651
EN-V1-1	GAS7	1.824613576	0	Unclassified	BrainSpLMD|8522;Eurexp|euxassay_001801|mantle layer, marginal layer	OMIM|603127;COSMIC||AML*
EN-V1-1	NFIA.AS1	1.814026272	0			
EN-V1-1	NTRK2	1.807068083	0	Receptor tyrosine kinase	BrainSpLMD|4915;BrainSpMouseDev|17979	OMIM|600456;HPO|4915|Autosomal dominant inheritance, Facial asymmetry, Obesity, Polyphagia, Severe global developmental delay, Stereotypy
EN-V1-1	CDH6	1.805339441	0	Adhesion molecule	BrainSpLMD|1004;BrainSpMouseDev|12348	OMIM|603007
EN-V1-1	ST3GAL1	1.757018236	0	Enzyme: Sialyltransferase	BrainSpLMD|6482;Eurexp|euxassay_010981|mandible, mantle layer, sternum, vibrissa	OMIM|607187
EN-V1-1	DAB1	1.754703699	0	Adapter molecule	BrainSpLMD|1600;Eurexp|euxassay_017879|basal columns, footplate, lip, mantle layer, maxilla, mesenchyme, naris, ventricular layer;BrainSpMouseDev|12911	SFARI||Autism, 5 - Hypothesized but untested;OMIM|603448;HPO|1600|Ataxia, Autosomal dominant inheritance, Dysarthria, Frequent falls, Slow progression, Unsteady gait
EN-V1-1	KLHL5	1.753571325	0	Cytoskeletal associated protein	BrainSpLMD|51088;Eurexp|euxassay_012137|dorsal root ganglion, glossopharyngeal IX, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, mesenchyme, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|608064
EN-V1-1	PDE1A	1.752753611	0	Enzyme: Phosphodiesterase	BrainSpLMD|5136;BrainSpMouseDev|18339	OMIM|171890
EN-V1-1	GAREM	1.73717294	0			
EN-V1-1	LINC00643	1.734130319	0			
EN-V1-1	GPR12	1.732434205	0	G protein coupled receptor	BrainSpLMD|2835;Eurexp|euxassay_005675|cerebral cortex	OMIM|600752
EN-V1-1	KCNMA1	1.723920509	0	Ion channel	BrainSpLMD|3778	SFARI||Autism, 4 - Minimal evidence;OMIM|600150;HPO|3778|Absence seizures, Autosomal dominant inheritance, EEG with spike-wave complexes (>3.5 Hz), Generalized tonic-clonic seizures, Paroxysmal dyskinesia
EN-V1-1	SH3GL2	1.722318573	0	Unclassified	BrainSpLMD|6456	OMIM|604465
EN-V1-1	KIT	1.713259166	0	Receptor tyrosine kinase	BrainSpLMD|3815;BrainSpMouseDev|16363	SFARI||Autism, No category;OMIM|164920;COSMIC||GIST, AML, TGCT, mastocytosis, mucosal melanoma, GIST, epithelioma, Piebald trait;HPO|3815|Abnormal blistering of the skin, Abnormality of metabolism/homeostasis, Abnormality of the ear, Absent pigmentation of the ventral chest, Acute myeloid leukemia, Aganglionic megacolon, Autosomal dominant inheritance, Chronic myelogenous leukemia, Chronic myelomonocytic leukemia, Constipation, Cryptorchidism, Cutaneous mastocytosis, Dysphagia, Eosinophilia, Erythema, Erythroderma, Fatigue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Gonadal dysgenesis, Heterochromia iridis, Hypermelanotic macule, Hyperpigmentation of the skin, Hypopigmented skin patches, Intestinal obstruction, Large hands, Macule, Mastocytosis, Myelodysplasia, Nausea and vomiting, Neoplasm, Neoplasm of the stomach, Neurofibromas, Partial albinism, Piebaldism, Profuse pigmented skin lesions, Pruritus, Sarcoma, Somatic mutation, Sporadic, Subcutaneous nodule, Telangiectasia macularis eruptiva perstans, Teratoma, Thickened skin, Urticaria, White eyebrow, White eyelashes, White forelock
EN-V1-1	GABBR2	1.711772357	0	G protein coupled receptor	BrainSpLMD|9568;BrainSpMouseDev|88950	OMIM|607340
EN-V1-1	SCN2A	1.707335406	0	Voltage gated channel	BrainSpLMD|6326	SFARI||Autism, 1 - High confidence;OMIM|182390;HPO|6326|Abnormality of skin morphology, Abnormality of vision, Ataxia, Autosomal dominant inheritance, Choreoathetosis, Cutaneous photosensitivity, Cyanosis, Deeply set eye, Developmental regression, Dialeptic seizures, Dysesthesia, Dyskinesia, EEG abnormality, Epileptic encephalopathy, Febrile seizures, Focal clonic seizures, Focal seizures, Focal seizures, afebril, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Generalized tonic-clonic seizures with focal onset, Global developmental delay, Hypertonia, Hypsarrhythmia, Infantile onset, Infantile spasms, Muscular hypotonia, Myoclonus, Neurodevelopmental delay, Normal interictal EEG, Obtundation status, Pschomotor retardation, Reduced consciousness/confusion, Seizures, Spastic tetraplegia, Status epilepticus, Tremor, Variable expressivity
EN-V1-1	PCSK5	1.701737229	0	Serine protease	BrainSpLMD|5125	OMIM|600488
EN-V1-1	NPTX1	1.697246915	0	Transport/cargo protein	BrainSpLMD|4884;Eurexp|euxassay_009619|dorsal root ganglion, mantle layer, molar, trigeminal V, ventral grey horn	OMIM|602367
EN-V1-1	CNTN1	1.689106832	0	Adhesion molecule	BrainSpLMD|1272;Eurexp|euxassay_006852|4th ventricle, calyces, choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, marginal layer, maxilla, neural retina, olfactory, pelvis, pituitary, trigeminal V, ureter, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|12588	OMIM|600016;HPO|1272|Akinesia, Arachnodactyly, Areflexia, Autosomal recessive inheritance, Camptodactyly, Death in infancy, Fetal akinesia sequence, High, narrow palate, Hypertelorism, Joint contracture of the hand, Neonatal hypotonia, Oval face, Overlapping fingers, Polyhydramnios, Poor suck, Respiratory insufficiency due to muscle weakness, Scaphocephaly, Small for gestational age
EN-V1-1	NLGN1.AS1	1.688904046	0			
EN-V1-1	NLGN1	1.678315123	0	Adhesion molecule	BrainSpLMD|22871	SFARI||Autism, 3 - Suggestive evidence;OMIM|600568
EN-V1-1	NECAB1	1.675670752	0	Calcium binding protein	BrainSpLMD|64168;Eurexp|euxassay_005971|embryo	
EN-V1-1	SSBP3	1.660070491	0	DNA binding protein	BrainSpLMD|23648	OMIM|607390
EN-V1-1	USP6NL	1.657338183	0	GTPase activating protein	BrainSpLMD|9712	OMIM|605405
EN-V1-1	PRDM8	1.654631453	0	Unclassified	BrainSpLMD|56978;Eurexp|euxassay_003278|diencephalon, dorsal root ganglion, hindbrain, midbrain, spinal cord, telencephalon, trigeminal V	OMIM|616639;HPO|56978|Autosomal recessive inheritance, Dementia, Dysarthria, Generalized myoclonic seizures, Hallucinations, Hyperreflexia, Lafora bodies, Mutism, Myoclonus, Paranoia, Progressive, Progressive cerebellar ataxia, Psychosis, Spastic ataxia, Spastic tetraplegia, Urinary incontinence, Variable expressivity
EN-V1-1	KAZN	1.652021846	0	Unclassified	BrainSpLMD|23254	
EN-V1-1	RALYL	1.649731779	0	RNA binding protein	BrainSpLMD|138046;Eurexp|euxassay_006099|brain, spinal cord, trigeminal V	OMIM|614648
EN-V1-1	XPR1	1.640506774	0	Integral membrane protein	BrainSpLMD|9213;Eurexp|euxassay_010259|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII	OMIM|605237;HPO|9213|Abnormality of neuronal migration, Adult onset, Autosomal dominant inheritance, Basal ganglia calcification, Cerebral calcification, Choreoathetosis, Corneal opacity, Dementia, Depressivity, Dysarthria, Hepatomegaly, Intrauterine growth retardation, Memory impairment, Microcephaly, Parkinsonism, Progressive, Seizures, Subcutaneous hemorrhage, Thrombocytopenia, Ventriculomegaly
EN-V1-1	ADRBK2	1.635213304	0			
EN-V1-1	TBR1	1.634342756	0	Transcription factor	BrainSpLMD|10716;BrainSpMouseDev|21136	SFARI||Autism, 1 - High confidence;OMIM|604616;HPO|10716|Abnormality of oral frenula, Abnormality of the iris, Autistic behavior, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Cataract, Cleft palate, Coloboma, Downslanted palpebral fissures, Failure to thrive, Growth delay, Hand clenching, Hypertelorism, Intellectual disability, Long fingers, Low-set, posteriorly rotated ears, Microphthalmia, Neonatal hypotonia, Seizures, Severe global developmental delay, Short neck, Short philtrum, Small face, Small for gestational age, Toe syndactyly
EN-V1-1	PRICKLE2	1.633084132	0	Unclassified	BrainSpLMD|166336	SFARI||Autism, 3 - Suggestive evidence;OMIM|608501
EN-V1-1	PAPPA	1.614995686	0	Metallo protease	BrainSpLMD|5069	OMIM|176385
EN-V1-1	PCSK2	1.613426864	0	Unclassified	BrainSpLMD|5126;BrainSpMouseDev|18315	OMIM|162151
EN-V1-1	DCC	1.601280499	0	Cell surface receptor	BrainSpLMD|1630;Eurexp|euxassay_009578|mantle layer, marginal layer, neural retina, ventricular layer;BrainSpMouseDev|12956	OMIM|120470;COSMIC||CRC, melanoma, SCC;HPO|1630|Autosomal dominant inheritance, Bimanual synkinesia, Hereditary nonpolyposis colorectal carcinoma, Incomplete penetrance, Neoplasm of the stomach, Renal cell carcinoma, Squamous cell carcinoma, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma
EN-V1-1	VLDLR.AS1	1.59735618	0			
EN-V1-1	GABRG2	1.596161913	0	Extracellular ligand gated channel	BrainSpLMD|2566;Eurexp|euxassay_014944|brain, central nervous system, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, spinal cord, stroma, telencephalon, thoracic, trigeminal V, vagus X;BrainSpMouseDev|14182	OMIM|137164;HPO|2566|Absence seizures, Ataxia, Atonic seizures, Autosomal dominant inheritance, Cutaneous photosensitivity, EEG abnormality, Febrile seizures, Focal clonic seizures, Focal seizures, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Muscular hypotonia, Neurodevelopmental delay, Obtundation status, Pschomotor retardation, Tremor, Variable expressivity
EN-V1-1	CDHR3	1.567969532	0	Unclassified	BrainSpLMD|222256	OMIM|615610
EN-V1-1	FAM3C	1.558936604	0	Cytokine	BrainSpMouseDev|27743	OMIM|608618
EN-V1-1	VSTM2L	1.555312086	0	Unclassified	BrainSpLMD|128434;Eurexp|euxassay_007444|embryo	OMIM|616537
EN-V1-1	SPOCK1	1.548093315	0	Extracellular matrix protein	BrainSpLMD|6695;Eurexp|euxassay_008541|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, incisor, mantle layer, midbrain, molar, neural retina, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|602264
EN-V1-1	SSBP2	1.54772012	0	Transcription regulatory protein	BrainSpLMD|23635;Eurexp|euxassay_004775|adenohypophysis, brain, diencephalon, forelimb, glossopharyngeal IX, hindbrain, hindlimb, mantle layer, marginal layer, mesenchyme, midbrain, olfactory, spinal cord, tail, trigeminal V, vestibulocochlear VIII	OMIM|607389
EN-V1-1	GPD1L	1.540047334	0	Unclassified	BrainSpLMD|23171;Eurexp|euxassay_012850|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	OMIM|611778;HPO|23171|Autosomal dominant inheritance, First degree atrioventricular block, Right bundle branch block, Syncope, Ventricular fibrillation
EN-V1-1	TMEM159	1.539980915	0	Unclassified	BrainSpLMD|57146	OMIM|611304
EN-V1-1	EML1	1.532675899	0	Structural protein	BrainSpLMD|2009	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602033;HPO|2009|Agenesis of corpus callosum, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Intellectual disability, severe, Macrocephaly, Polymicrogyria, Seizures, Sleep disturbance, Spasticity
EN-V1-1	GRIN2B	1.532281983	0	Extracellular ligand gated channel	BrainSpLMD|2904;BrainSpMouseDev|14588	SFARI||Autism, 1 - High confidence;OMIM|138252;HPO|2904|Abnormality of skin morphology, Absent speech, Autosomal dominant inheritance, Behavioral abnormality, Developmental regression, EEG abnormality, Epileptic encephalopathy, Generalized hypotonia, Global developmental delay, Hypsarrhythmia, Infantile spasms, Intellectual disability, Myoclonus, Seizures, Variable expressivity
EN-V1-1	NEUROD6	1.531696851	0	Transcription factor	BrainSpLMD|63974;Eurexp|euxassay_017889|inner ear, mantle layer, olfactory, olfactory lobe;BrainSpMouseDev|11708	OMIM|611513
EN-V1-1	IGSF21	1.511507236	0	Unclassified	BrainSpLMD|84966;Eurexp|euxassay_006157|cervical, cervico-thoracic, corpus striatum, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, olfactory, retina, thoracic, trigeminal V	
EN-V1-1	TP53I11	1.498408131	0	Unclassified	BrainSpLMD|9537;Eurexp|euxassay_011840|dorsal root ganglion, glossopharyngeal IX, neural retina, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|93222	
EN-V1-1	GRIK3	1.491615208	0	Extracellular ligand gated channel	BrainSpLMD|2899;BrainSpMouseDev|14583	SFARI||Autism, No category;OMIM|138243
EN-V1-1	DYNC1I1	1.487280039	0	Motor protein	BrainSpLMD|1780;Eurexp|euxassay_006183|adrenal gland, cortex, diaphragm, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, mantle layer, marginal layer, ovary, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, tegmentum, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|603772
EN-V1-1	SLC24A2	1.481012942	0	Membrane transport protein	BrainSpLMD|25769	SFARI||Autism, No category;OMIM|609838
EN-V1-1	SHISA2	1.47352592	0	Integral membrane protein	BrainSpLMD|387914	OMIM|617324
EN-V1-1	AFF3	1.470805091	0	Transcription factor	BrainSpLMD|3899;BrainSpMouseDev|16536	OMIM|601464;COSMIC||ALL, T-ALL
EN-V1-1	CAMKV	1.467260521	0	Unclassified	BrainSpLMD|79012;Eurexp|euxassay_007008|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, phalanx, spinal cord	OMIM|614993
EN-V1-1	SLC4A10	1.464842435	0	Membrane transport protein	BrainSpLMD|57282;Eurexp|euxassay_019732|choroid plexus, olfactory lobe	SFARI||Autism, 4 - Minimal evidence;OMIM|605556
EN-V1-1	FAM49A	1.463883409	0	Unclassified	BrainSpLMD|81553;Eurexp|euxassay_007357|mantle layer	
EN-V1-1	RCAN1	1.450103931	0	Unclassified	BrainSpLMD|1827	OMIM|602917
EN-V1-1	PLXDC2	1.425713266	0	Cell surface receptor	BrainSpLMD|84898;Eurexp|euxassay_002573|body-wall mesenchyme, choroid plexus, cochlear duct, diaphragm, epidermis, epithelium, humerus, mantle layer, submandibular gland primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|606827
EN-V1-1	B3GALT2	1.419161745	0	Enzyme: Galactosyltransferase	BrainSpLMD|8707;Eurexp|euxassay_011551|axial skeleton, diaphragm, footplate, mantle layer, marginal layer, neural retina, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|26624	OMIM|603018
EN-V1-1	PLCL2	1.418802186	0	Unclassified	BrainSpLMD|23228	OMIM|614276
EN-V1-1	TENM2	1.415803367	0	Translation regulatory protein		OMIM|610119
EN-V1-1	GUCY1A2	1.41398648	0	Guanylate cyclase	BrainSpLMD|2977	SFARI||Autism, 4 - Minimal evidence;OMIM|601244
EN-V1-1	SLC17A7	1.402996022	0	Transport/cargo protein	BrainSpLMD|57030;BrainSpMouseDev|48802	OMIM|605208
EN-V1-1	NYAP2	1.401437442	0	Unclassified		OMIM|615478
EN-V1-1	RGS7	1.401393016	0	GTPase activating protein	BrainSpLMD|6000;Eurexp|euxassay_014400|Meckel's cartilage, cervico-thoracic, diencephalon, dorsal root ganglion, femur, glossopharyngeal IX, hindbrain, humerus, mesenchyme, midbrain, neural retina, orbito-sphenoid, pelvic girdle, scapula, spinal cord, telencephalon, temporal bone, thoracic, trigeminal V, turbinate, vagus X, vault of skull	SFARI||Autism, 4 - Minimal evidence;OMIM|602517;COSMIC||melanoma
EN-V1-1	KIAA0319	1.395457104	0	Integral membrane protein	BrainSpLMD|9856;Eurexp|euxassay_011052|dorsal root ganglion, olfactory	OMIM|609269
EN-V1-1	ATP1A3	1.394012574	0	Transport/cargo protein	BrainSpLMD|478	SFARI||Autism, No category;OMIM|182350;HPO|478|Anxiety, Areflexia, Ataxia, Autosomal dominant inheritance, Blindness, Bradykinesia, Choreoathetosis, Depressivity, Drooling, Dysarthria, Dysmetria, Dysphagia, Dystonia, Emotional lability, Episodic ataxia, Episodic generalized hypotonia, Episodic quadriplegia, Gait ataxia, Global developmental delay, Hemiparesis, Hemiplegia, Hypomimic face, Incomplete penetrance, Intellectual disability, Mental deterioration, Muscle weakness, Mutism, Nystagmus, Optic atrophy, Parkinsonism, Pes cavus, Postural instability, Progressive sensorineural hearing impairment, Progressive visual loss, Status epilepticus, Torticollis, Truncal ataxia, Unsteady gait, Young adult onset
EN-V1-1	NIN	1.383803763	0	Unclassified	BrainSpLMD|51199;Eurexp|euxassay_007733|mantle layer, marginal layer, olfactory, ventricular layer	OMIM|608684;COSMIC||MPN;HPO|51199|Autosomal recessive inheritance, Central hypothyroidism, Delayed skeletal maturation, Hip dysplasia, Hypoplasia of the uterus, Hypotelorism, Intellectual disability, severe, Intrauterine growth retardation, Lumbar scoliosis, Madelung deformity, Microcephaly, Microtia, Primary amenorrhea, Prominent nose, Seizures, Severe global developmental delay, Severe short stature
EN-V1-1	CTTNBP2	1.379307013	0	Unclassified	BrainSpLMD|83992;Eurexp|euxassay_015493|dorsal grey horn, limb, mantle layer, penis, thalamus;BrainSpMouseDev|29776	SFARI||Autism, 3 - Suggestive evidence;OMIM|609772
EN-V1-1	FRMD3	1.373637718	0	Structural protein	BrainSpLMD|257019	OMIM|607619
EN-V1-1	PPM1L	1.370138224	0	Serine/threonine phosphatase	BrainSpLMD|151742;Eurexp|euxassay_008476|anterior, brain, cervical, cervico-thoracic, cornea, diaphragm, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, left lung, liver, midgut, neural retina, oesophagus, olfactory, paraxial mesenchyme, rest of mesenchyme, right lung, skeletal muscle, spinal cord, stomach, thoracic, thymus primordium, trachea, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|611931
EN-V1-1	NTRK3	1.359239839	0	Receptor tyrosine kinase	BrainSpLMD|4916;Eurexp|euxassay_017897|corpus striatum, dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|17980	SFARI||Autism, 4 - Minimal evidence;OMIM|191316;COSMIC||congenital fibrosarcoma, secretory breast
EN-V1-1	MAP7D2	1.355117147	0	Unclassified	BrainSpLMD|256714;Eurexp|euxassay_013477|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn, vestibulocochlear VIII	
EN-V1-1	AC004158.3	1.351301441	0			
EN-V1-1	NDRG1	1.322518676	0	Unclassified	BrainSpLMD|10397;Eurexp|euxassay_004423|anterior, dorsal root ganglion, external, mandible, marginal layer, meninges, mesenchyme, midgut, naris, nasal septum, olfactory, palatal shelf, pyloric region, rectum, upper jaw	OMIM|605262;COSMIC||prostate;HPO|10397|Abnormal auditory evoked potentials, Abnormality of the hand, Abnormality of visual evoked potentials, Areflexia, Autosomal recessive inheritance, Axonal loss, Decreased nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Gait disturbance, Hearing impairment, Hyporeflexia, Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material, Juvenile onset, Onion bulb formation, Segmental peripheral demyelination/remyelination, Talipes cavus equinovarus
EN-V1-1	AL592183.1	1.310476999	0			
EN-V1-1	SESN3	1.309541664	0	Cell cycle control protein	BrainSpLMD|143686	OMIM|607768
EN-V1-1	NELL2	1.305439582	0	Calcium binding protein	BrainSpLMD|4753;Eurexp|euxassay_010538|axial skeleton, brachial plexus, dorsal root ganglion, footplate, handplate, head mesenchyme, incisor, mantle layer, marginal layer, mesenchyme, mesentery, molar, neural retina, olfactory, paraxial mesenchyme, perioptic mesenchyme, peritoneal cavity, rib, ventricular layer	OMIM|602320
EN-V1-1	RPS3AP47	1.303478169	0			
EN-V1-1	EPHA7	1.302149961	0	Receptor tyrosine kinase	BrainSpLMD|2045;Eurexp|euxassay_008884|eyelid, incisor, lip, lung, mantle layer, mesenchyme, metanephros, metatarsus, molar, palatal shelf, penis, phalanx, saccule, tongue, trigeminal V, urethra, valve;BrainSpMouseDev|13619	OMIM|602190;COSMIC||CRC, melanoma
EN-V1-1	SCG5	1.301361034	0	Chaperone	BrainSpLMD|6447;Eurexp|euxassay_007348|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, oesophagus, olfactory, pituitary, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20157	OMIM|173120
EN-V1-1	DOK6	1.285903458	0	Adapter molecule	BrainSpLMD|220164;Eurexp|euxassay_013254|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, spinal cord, trigeminal V	OMIM|611402
EN-V1-1	NRCAM	1.282311544	0	Adhesion molecule	BrainSpLMD|4897;BrainSpMouseDev|106439	SFARI||Autism, 4 - Minimal evidence;OMIM|601581
EN-V1-1	PRKAR2B	1.281226236	0	Serine/threonine kinase	BrainSpLMD|5577;Eurexp|euxassay_012279|adrenal gland, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, lobe, midbrain, neural retina, skeletal muscle, spinal cord, submandibular gland primordium, telencephalon, testis, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|176912
EN-V1-1	JPH4	1.263416519	0	Unclassified	BrainSpLMD|84502;Eurexp|euxassay_007469|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, mesenchyme, midbrain, rest of mesenchyme, spinal cord, telencephalon, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
EN-V1-1	ITSN1	1.255387245	0	Adapter molecule	BrainSpLMD|6453;Eurexp|euxassay_003599|dorsal grey horn, marginal layer, ventricular layer;BrainSpMouseDev|16216	OMIM|602442
EN-V1-1	FAT3	1.253371172	0	Integral membrane protein	Eurexp|euxassay_015982|axial muscle, clavicle, cortex, diaphragm, dorsal root ganglion, exoccipital bone, facial VII, femur, lip, mandible, mantle layer, maxilla, mesenchyme, metatarsus, orbito-sphenoid, pelvic girdle, phalanx, rib, saccule, skeletal muscle, sternum, thymus primordium, trigeminal V, urethra, vault of skull, ventricular layer, vibrissa;BrainSpMouseDev|92930	OMIM|612483;COSMIC||SCC, colon adenocarcinoma, gastric adenocarcinoma
EN-V1-1	LIMCH1	1.248011287	0	Unclassified	BrainSpLMD|22998	OMIM|617750
EN-V1-1	GPR22	1.246887693	0	G protein coupled receptor	BrainSpLMD|2845	OMIM|601910
EN-V1-1	NFIA	1.244244574	0	Transcription factor	BrainSpLMD|4774;BrainSpMouseDev|17794	SFARI||Autism, 4 - Minimal evidence;OMIM|600727;HPO|4774|Agenesis of corpus callosum, Anteverted nares, Arnold-Chiari type I malformation, Broad face, Broad forehead, Cognitive impairment, Cutis marmorata, Generalized hypotonia, Global developmental delay, Hydronephrosis, Hypoplasia of the corpus callosum, Inguinal hernia, Intellectual disability, Low-set ears, Macrocephaly, Narrow mouth, Phenotypic variability, Renal hypoplasia, Seizures, Short chin, Short nose, Sporadic, Syringomyelia, Thin upper lip vermilion, Ventriculomegaly, Vesicoureteral reflux
EN-V1-1	CCDC171	1.241422252	0	Unclassified	BrainSpLMD|203238;Eurexp|euxassay_016011|olfactory, trigeminal V	
EN-V1-1	LINGO1	1.235072901	0	Unclassified	BrainSpLMD|84894	OMIM|609791
EN-V1-1	PRKACB	1.226026343	0	Serine/threonine kinase	BrainSpLMD|5567	OMIM|176892
EN-V1-1	RYR3	1.222686955	0	Intracellular ligand gated channel	BrainSpLMD|6263	OMIM|180903
EN-V1-1	NFIB	1.2140898	0	Transcription factor	BrainSpLMD|4781;BrainSpMouseDev|17795	OMIM|600728;COSMIC||adenoid cystic carcinoma, lipoma
EN-V1-1	CTNND2	1.208786343	0	Adhesion molecule	BrainSpLMD|1501;Eurexp|euxassay_018872|dorsal root ganglion, facial VII, neural retina, trigeminal V	SFARI||Autism, 2 - Strong candidate;OMIM|604275;COSMIC||prostae adenocarcinoma, GIST;HPO|1501|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
EN-V1-1	SLC6A15	1.205423151	0	Membrane transport protein	BrainSpLMD|55117;Eurexp|euxassay_012147|choroid invagination, choroid plexus, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, midgut, olfactory, roof plate, stomach, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|607971
EN-V1-1	NAV2	1.20413652	0	DNA binding protein	BrainSpLMD|89797;Eurexp|euxassay_008549|incisor, mantle layer, marginal layer, molar, neural retina, skeletal muscle, submandibular gland primordium, thymus primordium, ventral grey horn, vertebral axis muscle system, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|607026
EN-V1-1	SNCA	1.203645755	0	Chaperone	BrainSpLMD|6622;BrainSpMouseDev|20379	OMIM|163890;HPO|6622|Autosomal dominant inheritance, Bradykinesia, Delusions, Dementia, Depressivity, Dysarthria, Dysautonomia, Dysphagia, Dystonia, Fluctuations in consciousness, Hallucinations, Hypokinesia, Insidious onset, Lewy bodies, Mental deterioration, Middle age onset, Myoclonus, Orthostatic hypotension, Paranoia, Parkinsonism, Postural instability, Progressive, Rapidly progressive, Resting tremor, Rigidity, Shuffling gait, Sleep disturbance, Urinary urgency, Visual hallucinations, Weight loss
EN-V1-1	NR4A2	1.20347679	0	Nuclear receptor	BrainSpLMD|4929;BrainSpMouseDev|17994	OMIM|601828;HPO|4929|Bradykinesia, Constipation, Dementia, Depressivity, Dysarthria, Dysphagia, Dystonia, Insidious onset, Lewy bodies, Mask-like facies, Neuronal loss in central nervous system, Parkinsonism, Personality changes, Postural instability, Progressive, Resting tremor, Rigidity, Short stepped shuffling gait, Sleep disturbance, Sporadic, Substantia nigra gliosis, Urinary urgency, Weak voice
EN-V1-1	CACNA1E	1.201232543	0	Voltage gated channel	BrainSpLMD|777;Eurexp|euxassay_006436|dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|601013
EN-V1-1	THSD7A	1.196042084	0	Unclassified	Eurexp|euxassay_013737|calyces, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, mesenchyme, midgut, neural retina, olfactory, stomach, thyroid, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612249
EN-V1-1	PEG3	1.193839542	0	Transcription factor	BrainSpLMD|5178	OMIM|601483
EN-V1-1	DACT1	1.191120936	0	Unclassified	BrainSpLMD|51339;Eurexp|euxassay_009577|aorta, associated mesenchyme, capsule, cartilaginous ring, cortex, mantle layer, medullary stroma, mesenchyme, mesentery, midgut, oesophagus;BrainSpMouseDev|37599	OMIM|607861;HPO|51339|Anal atresia, Anencephaly, Anteriorly placed anus, Autosomal dominant inheritance, Bifid uterus, Cervical spina bifida, Clinodactyly of the 5th finger, Constipation, Crossed fused renal ectopia, Cryptorchidism, Cupped ear, External ear malformation, Hearing impairment, Hypospadias, Microtia, Myelomeningocele, Overfolded helix, Pes planus, Preauricular skin tag, Preaxial hand polydactyly, Rectoperineal fistula, Rectovaginal fistula, Renal insufficiency, Scoliosis, Spina bifida occulta, Subcutaneous nodule, Toe clinodactyly, Triphalangeal thumb
EN-V1-1	PPM1E	1.189481149	0	Serine/threonine phosphatase	BrainSpLMD|22843	
EN-V1-1	BCL11A	1.179194047	0	DNA binding protein	BrainSpLMD|53335;Eurexp|euxassay_007892|dorsal grey horn, incisor, naris, olfactory, pharyngo-tympanic tube, submandibular gland primordium, vibrissa;BrainSpMouseDev|13802	SFARI||Autism, 2 - Strong candidate;OMIM|606557;COSMIC||B-CLL;HPO|53335|Autosomal dominant inheritance, Congenital onset, Cupped ear, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, Global developmental delay, Intellectual disability, Joint hypermobility, Low-set ears, Microcephaly, Midface retrusion, Overfolded helix, Retrognathia, Strabismus, Thin upper lip vermilion
EN-V1-1	TARBP1	1.17912176	0	RNA binding protein	BrainSpLMD|6894	OMIM|605052
EN-V1-1	SEL1L3	1.171295032	0	Integral membrane protein	BrainSpLMD|23231;Eurexp|euxassay_002775|basal plate, calyces, cerebral cortex, corpus striatum, cortex, dorsal root ganglion, ductus deferens, foregut-midgut junction, glossopharyngeal IX, hindgut, marginal layer, midgut, rectum, stomach, submandibular gland primordium, trigeminal V, urethra, vestibulocochlear VIII	
EN-V1-1	ARPP21	1.169629792	0		BrainSpLMD|10777;Eurexp|euxassay_008422|brain, diaphragm, dorsal grey horn, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, head mesenchyme, lip, mantle layer, marginal layer, mesenchyme, olfactory, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, spinal cord, tail, thymus primordium, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|605488
EN-V1-1	RBFOX1	1.16896887	0		BrainSpLMD|54715;Eurexp|euxassay_013824|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, thoracic, trigeminal V	SFARI||Autism, 3 - Suggestive evidence;OMIM|605104
EN-V1-1	DSCAM	1.156685466	0	Adhesion molecule	BrainSpLMD|1826	SFARI||Autism, 1 - High confidence;OMIM|602523
EN-V1-1	DGKI	1.148845509	0	Lipid Kinase	BrainSpLMD|9162;Eurexp|euxassay_010174|mantle layer, marginal layer	OMIM|604072
EN-V1-1	SPHKAP	1.136742347	0	Unclassified	Eurexp|euxassay_011158|footplate, mantle layer, marginal layer, pancreas, pineal primordium, tegmentum, trigeminal V	OMIM|611646
EN-V1-1	ID2	1.134099416	0	Transcription regulatory protein	BrainSpLMD|3398;BrainSpMouseDev|15675	OMIM|600386
EN-V1-1	DNM3	1.127730698	0	GTPase	BrainSpLMD|26052	OMIM|611445
EN-V1-1	SLC44A1	1.127603279	0	Integral membrane protein	BrainSpLMD|23446;Eurexp|euxassay_019727|bladder, clavicle, cornea, femur, fibula, hindgut, liver, lung, mandible, mantle layer, maxilla, midgut, oesophagus, olfactory, orbito-sphenoid, palatal shelf, pancreas, phalanx, pituitary, rib, sternum, submandibular gland primordium, testis, thymus primordium, tibia, urethra, ventricular layer, vibrissa	OMIM|606105
EN-V1-1	C3orf14	1.101595774	0	Unclassified	BrainSpLMD|57415	
EN-V1-1	TMEM108	1.098939259	0	Unclassified	BrainSpLMD|66000;Eurexp|euxassay_002435|choroid plexus, lateral recess, marginal layer	OMIM|617361
EN-V1-1	GARNL3	1.092777768	0	GTPase activating protein	BrainSpLMD|84253;Eurexp|euxassay_009037|dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn	
EN-V1-1	SIPA1L1	1.090946317	0	GTPase activating protein	BrainSpLMD|26037	OMIM|617504
EN-V1-1	RBPJ	1.08904312	0	Transcription factor;Transcription regulatory protein	BrainSpLMD|3516;BrainSpMouseDev|19427	OMIM|147183;HPO|3516|2-3 toe syndactyly, Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aplasia cutis congenita, Autosomal dominant inheritance, Brachydactyly, Calvarial skull defect, Cataract, Cutis marmorata, Failure to thrive, Finger syndactyly, Hydrocephalus, Microcephaly, Microphthalmia, Pulmonary artery atresia, Short distal phalanx of finger, Short metatarsal, Sparse hair, Split hand, Strabismus, Talipes, Tetralogy of Fallot
EN-V1-1	ISLR2	1.088076509	0	Unclassified	BrainSpLMD|57611	OMIM|614179
EN-V1-1	FAT4	1.079642453	0	Adhesion molecule	BrainSpLMD|79633	OMIM|612411;COSMIC||lymphoma, pancreatic, head and neck, melanoma, hepatocellular carcinoma, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2;HPO|79633|Atresia of the external auditory canal, Autosomal recessive inheritance, Bifid scrotum, Blepharophimosis, Clinodactyly, Conductive hearing impairment, Congenital onset, Cryptorchidism, Cutaneous finger syndactyly, Dental malocclusion, Downturned corners of mouth, Epicanthus, Feeding difficulties, Generalized hypotonia, Growth delay, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypospadias, Intellectual disability, Irregular dentition, Joint laxity, Malar flattening, Micrognathia, Micropenis, Microtia, Midface retrusion, Narrow chest, Narrow forehead, Osteopenia, Ptosis, Renal hypoplasia, Sacral dimple, Scoliosis, Sensorineural hearing impairment, Short 4th metacarpal, Short clavicles, Short fourth metatarsal, Short palpebral fissure, Skeletal dysplasia, Talipes equinovarus, Tented upper lip vermilion, Tracheomalacia, Wide anterior fontanel, Wide cranial sutures, Wide nasal bridge
EN-V1-1	CPEB4	1.070195558	0	RNA binding protein	BrainSpLMD|80315	OMIM|610607
EN-V1-1	SOBP	1.06776905	0	Unclassified	BrainSpLMD|55084	OMIM|613667;HPO|55084|Autosomal recessive inheritance, Delayed speech and language development, Global developmental delay, Intellectual disability, severe, Open bite, Poor speech, Short attention span
EN-V1-1	BAIAP2.AS1	1.067354806	0			
EN-V1-1	SCD5	1.06343547	0	Enzyme: Oxidoreductase	BrainSpLMD|79966	OMIM|608370
EN-V1-1	DOCK9	1.060843944	0	Guanine nucleotide exchange factor	BrainSpLMD|23348	OMIM|607325
EN-V1-1	GABRB3	1.051353746	0	Extracellular ligand gated channel	BrainSpLMD|2562;Eurexp|euxassay_008367|brain, facial VII, glossopharyngeal IX, mandible, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|14178	SFARI||Autism, 2 - Strong candidate;OMIM|137192;HPO|2562|Abnormality of brainstem morphology, Aggressive behavior, Ataxia, Atonic seizures, Atypical absence seizures, Autistic behavior, Autosomal dominant inheritance, Dyskinesia, EEG with focal sharp slow waves, Encephalopathy, Epileptic encephalopathy, Falls, Generalized hypotonia, Generalized tonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Hyperactivity, Infantile onset, Intellectual disability, Mental deterioration, Myoclonus, Personality disorder, Seizures
EN-V1-1	BACH2	1.050989364	0	Transcription factor	BrainSpLMD|60468;Eurexp|euxassay_002436|dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vibrissa;BrainSpMouseDev|11800	OMIM|605394
EN-V1-1	IDS	1.043582752	0	Enzyme: Sulphohydrolase	BrainSpLMD|3423	OMIM|300823;HPO|3423|Abnormality of retinal pigmentation, Abnormality of the heart valves, Asthma, Cervical cord compression, Coarse facial features, Congestive heart failure, Delayed eruption of teeth, Dermatan sulfate excretion in urine, Diarrhea, Dysostosis multiplex, Flexion contracture, Hearing impairment, Heparan sulfate excretion in urine, Hepatomegaly, Hoarse voice, Hydrocephalus, Hypertrichosis, Inguinal hernia, Intellectual disability, profound, Intestinal pseudo-obstruction, Kyphosis, Macrocephaly, Macroglossia, Mild short stature, Neurodegeneration, Obstructive sleep apnea, Papilledema, Pes cavus, Ptosis, Recurrent otitis media, Scaphocephaly, Seizures, Severe short stature, Short neck, Short stature, Splenomegaly, Split hand, Thick lower lip vermilion, Tracheobronchomalacia, Umbilical hernia, Widely spaced teeth, X-linked recessive inheritance
EN-V1-1	DPY19L2	1.038620528	0	Unclassified	BrainSpLMD|283417	OMIM|613893;HPO|283417|Autosomal recessive inheritance, Globozoospermia
EN-V1-1	AKT3	1.016431932	0	Serine/threonine kinase	BrainSpLMD|10000;Eurexp|euxassay_006568|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611223;COSMIC||GBM;HPO|10000|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Cutis marmorata, Depressed nasal bridge, Hemimegalencephaly, High forehead, Hydrocephalus, Hyperextensible skin, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
EN-V1-1	BCL11B	1.010407689	0	Transcription regulatory protein;DNA binding protein	BrainSpLMD|64919;BrainSpMouseDev|37240	OMIM|606558;COSMIC||T-ALL;HPO|64919|Absent speech, Autosomal dominant inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hirsutism, Hypertelorism, Inflammatory abnormality of the skin, Intellectual disability, Micrognathia, Natal tooth, Pulmonary artery stenosis, Seizures, Severe combined immunodeficiency, Short palpebral fissure, Spastic tetraplegia, Umbilical hernia, Wormian bones
EN-V1-1	ABRACL	1.008475709	0	Unclassified	BrainSpLMD|58527	
EN-V1-1	STX6	1.005426682	0	Membrane transport protein	BrainSpLMD|10228	OMIM|603944
EN-V1-1	MLLT4	0.999224146	0			
EN-V1-1	MSRA	0.998226873	0	Enzyme: Reductase	BrainSpLMD|4482	OMIM|601250
EN-V1-1	ERC1	0.995352017	0	Regulatory/other subunit	BrainSpLMD|23085	OMIM|607127;COSMIC||papillary thyroid, Spitzoid tumour
EN-V1-1	SLIT1	0.989230876	0	Ligand	BrainSpLMD|6585;BrainSpMouseDev|20324	OMIM|603742
EN-V1-1	ZBTB18	0.988297727	0	Transcription regulatory protein	BrainSpLMD|10472	OMIM|608433;HPO|10472|Abnormality of the pinna, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Depressed nasal bridge, Epicanthus, Generalized hypotonia, Global developmental delay, Hypertelorism, Intellectual disability, Low-set ears, Microcephaly, Micrognathia, Prominent forehead, Round face, Seizures, Short stature, Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Variable expressivity
EN-V1-1	CSRNP3	0.97935634	0	Unclassified	BrainSpLMD|80034;Eurexp|euxassay_009789|brain, mantle layer, spinal cord, trigeminal V, ventricular layer	
EN-V1-1	MEF2C	0.979344959	0	Transcription regulatory protein	BrainSpLMD|4208;Eurexp|euxassay_018172|axial skeleton, clavicle, diaphragm, dorsal grey horn, glossopharyngeal IX, incisor, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metatarsus, orbito-sphenoid, phalanx, rest of mesenchyme, rib, skeletal muscle, trigeminal V, vault of skull, vertebral axis muscle system, vibrissa;BrainSpMouseDev|17029	SFARI||Autism, 4 - Minimal evidence;OMIM|600662;HPO|4208|Anteverted nares, Autistic behavior, Autosomal dominant inheritance, Broad forehead, Delayed speech and language development, Depressed nasal bridge, Downturned corners of mouth, Generalized hypotonia, High forehead, Hypertelorism, Hypoplasia of the corpus callosum, Inability to walk, Intellectual disability, severe, Low-set ears, Motor delay, Muscular hypotonia, Poor eye contact, Seizures, Short chin, Short nose, Short philtrum, Sporadic, Stereotypy, Upslanted palpebral fissure, Ventriculomegaly
EN-V1-1	GRIA2	0.978614837	0	Extracellular ligand gated channel	BrainSpLMD|2891;Eurexp|euxassay_010006|brain, dorsal root ganglion, molar, penis, skeletal muscle, spinal cord, trigeminal V, vagus X;BrainSpMouseDev|14576	OMIM|138247
EN-V1-1	MCTP1	0.977970293	0	Calcium binding protein	BrainSpLMD|79772	OMIM|616296
EN-V1-1	NFIX	0.972132052	0	Transcription factor	BrainSpLMD|4784;BrainSpMouseDev|17799	SFARI||Autism, No category;OMIM|164005;HPO|4784|Accelerated skeletal maturation, Advanced eruption of teeth, Agenesis of corpus callosum, Anteverted nares, Anxiety, Astigmatism, Atlantoaxial dislocation, Atrial septal defect, Autosomal dominant inheritance, Blue sclerae, Bullet-shaped middle phalanges of the hand, Cerebral atrophy, Choanal atresia, Choanal stenosis, Coxa valga, Cutis marmorata, Death in childhood, Decreased body weight, Delayed speech and language development, Depressed nasal bridge, Distal widening of metacarpals, Downslanted palpebral fissures, Eclabion, Everted lower lip vermilion, Failure to thrive, Frontal bossing, Generalized hypotonia, Gingival overgrowth, Glossoptosis, Hearing impairment, High forehead, Hypermetropia, Hypoplasia of the odontoid process, Intellectual disability, Irregular dentition, Large sternal ossification centers, Laryngomalacia, Long face, Long fingers, Low-set ears, Macrocephaly, Macrogyria, Malar flattening, Mandibular prognathia, Midface retrusion, Motor delay, Narrow face, Narrow mouth, Nystagmus, Obstructive sleep apnea, Omphalocele, Overfolded helix, Overgrowth, Patent ductus arteriosus, Pectus excavatum, Prominence of the premaxilla, Prominent forehead, Pulmonary arterial hypertension, Recurrent aspiration pneumonia, Retrognathia, Scoliosis, Shallow orbits, Short distal phalanx of finger, Short mandibular rami, Short nose, Short philtrum, Short sternum, Slender long bone, Sporadic, Strabismus, Synophrys, Tall stature, Thick eyebrow, Umbilical hernia, Ventriculomegaly
EN-V1-1	LDB2	0.966283346	0	Transcription regulatory protein	BrainSpLMD|9079;BrainSpMouseDev|16597	OMIM|603450
EN-V1-1	GTF2H5	0.956658344	0	Transcription factor	BrainSpLMD|404672;Eurexp|euxassay_003129|cervical, cervico-thoracic, chondrocranium, clavicle, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, marginal layer, oesophagus, olfactory, oral epithelium, pancreas, submandibular gland primordium, thoracic, thymus primordium, tooth, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42310	OMIM|608780;HPO|404672|Asthma, Autosomal recessive inheritance, Brittle hair, Cataract, Congenital nonbullous ichthyosiform erythroderma, Decreased fertility, Erythroderma, Intellectual disability, Joint contracture of the hand, Short stature, Tiger tail banding
EN-V1-1	DPY19L3	0.945919161	0	Unclassified	BrainSpLMD|147991	OMIM|613894
EN-V1-1	LCORL	0.925235739	0	Transcription factor	BrainSpLMD|254251	OMIM|611799
EN-V1-1	LINC00599	0.92310327	0			
EN-V1-1	DISP2	0.921173052	0	Integral membrane protein	BrainSpLMD|85455;Eurexp|euxassay_009571|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, neural retina, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607503
EN-V1-1	MTCH2	0.919479214	0	Unclassified	BrainSpLMD|23788;Eurexp|euxassay_002498|axial muscle, dorsal root ganglion, mantle layer, orbito-sphenoid, trigeminal V	OMIM|613221
EN-V1-1	SATB1	0.918157637	0	Transcription factor	BrainSpLMD|6304;Eurexp|euxassay_018001|cervical, cervico-thoracic, dorsal root ganglion, epidermis, facial VII, glossopharyngeal IX, marginal layer, neural retina, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|19993	OMIM|602075
EN-V1-1	FAM171B	0.916655174	0	Integral membrane protein	BrainSpLMD|165215;Eurexp|euxassay_008581|dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, ventricular layer, vestibulocochlear VIII	
EN-V1-1	STT3B	0.91590112	0	Integral membrane protein	BrainSpLMD|201595	OMIM|608605;HPO|201595|Abnormal glycosylation, Autosomal recessive inheritance, Cerebellar atrophy, Congenital onset, Cryptorchidism, Death in childhood, Decreased liver function, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Microcephaly, Micropenis, Optic atrophy, Respiratory distress, Scrotal hypoplasia, Seizures, Thrombocytopenia
EN-V1-1	APBA1	0.905004051	0	Adapter molecule	BrainSpLMD|320;Eurexp|euxassay_007658|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn;BrainSpMouseDev|106859	OMIM|602414
EN-V1-1	MED13L	0.903295277	0	Unclassified	BrainSpLMD|23389	SFARI||Autism, 2 - Strong candidate;OMIM|608771;HPO|23389|Ataxia, Autism, Autosomal dominant inheritance, Brachycephaly, Bulbous nose, Clinodactyly, Coloboma, Cryptorchidism, Depressed nasal bridge, Dysarthria, Everted lower lip vermilion, Frontal bossing, Generalized hypotonia, Global developmental delay, Hypertelorism, Incomplete penetrance, Infantile onset, Intellectual disability, moderate, Low-set ears, Macroglossia, Macrotia, Motor delay, Narrow forehead, Open mouth, Patent foramen ovale, Plagiocephaly, Poor speech, Prominent forehead, Recurrent infections, Round face, Short neck, Strabismus, Transposition of the great arteries, Triangular face, Upslanted palpebral fissure, Wide mouth
EN-V1-1	TMEM106B	0.882905472	0	Unclassified	BrainSpLMD|54664	OMIM|613413;HPO|54664|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Aggressive behavior, Alexia, Anxiety, Apraxia, Collectionism, Depressivity, Disinhibition, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, EEG with continuous slow activity, Echolalia, Emotional blunting, Frontotemporal cerebral atrophy, Frontotemporal dementia, Grammar-specific speech disorder, Hyperorality, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Perseveration, Personality changes, Poor speech, Restlessness, Restrictive behavior, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold
EN-V1-1	GRIK2	0.875711262	0	Extracellular ligand gated channel	BrainSpLMD|2898;Eurexp|euxassay_008383|cerebellum, cortex, diencephalon, footplate, hindgut, medulla oblongata, midbrain, midgut, pituitary, pons, spinal cord, stomach, telencephalon, tongue, trigeminal V;BrainSpMouseDev|14582	SFARI||Autism, 3 - Suggestive evidence;OMIM|138244;HPO|2898|Autosomal recessive inheritance, Global developmental delay, Infantile onset, Intellectual disability
EN-V1-1	NEUROD2	0.871677497	0	Transcription factor	BrainSpLMD|4761;Eurexp|euxassay_013855|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|17780	OMIM|601725
EN-V1-1	PGM2L1	0.871186605	0	Enzyme: Mutase	BrainSpLMD|283209;Eurexp|euxassay_012530|brain, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611610
EN-V1-1	ST7	0.867427268	0	Cell cycle control protein	BrainSpLMD|7982;Eurexp|euxassay_007207|brain, spinal cord;BrainSpMouseDev|40846	SFARI||Autism, 4 - Minimal evidence;OMIM|600833
EN-V1-1	POU2F2	0.863081547	0	Transcription factor	BrainSpLMD|5452;Eurexp|euxassay_019622|mantle layer;BrainSpMouseDev|18750	OMIM|164176
EN-V1-1	DLG2	0.862823167	0	Cell junction protein	BrainSpLMD|1740;Eurexp|euxassay_011686|cervical, cervico-thoracic, dorsal root ganglion, mandible, mantle layer, marginal layer, maxilla, thoracic, trigeminal V, ventral grey horn	OMIM|603583
EN-V1-1	SRPK2	0.846843093	0	Serine/threonine kinase	BrainSpLMD|6733;Eurexp|euxassay_018943|brain, glossopharyngeal IX, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20579	OMIM|602980
EN-V1-1	SNAP25	0.845415718	0	Membrane transport protein	BrainSpLMD|6616;Eurexp|euxassay_015720|cervical, cervico-thoracic, dorsal root ganglion, extrinsic ocular muscle, facial VII, forebrain, glossopharyngeal IX, hindbrain, lip, midbrain, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|600322;HPO|6616|Areflexia, Ataxia, Autosomal dominant inheritance, Congenital onset, Decreased fetal movement, Difficulty walking, Dysarthria, Easy fatigability, Flexion contracture, Global developmental delay, Muscle weakness, Poor speech, Ptosis, Respiratory insufficiency
EN-V1-1	NUAK1	0.843390414	0	Enzyme: Phosphotransferase	BrainSpLMD|9891;Eurexp|euxassay_010978|aorta, axial skeleton, clavicle, dorsal root ganglion, incisor, mandible, mantle layer, maxilla, metanephros, molar, neural retina, olfactory, orbito-sphenoid, trigeminal V, vibrissa, vomeronasal organ	SFARI||Autism, 3 - Suggestive evidence;OMIM|608130
EN-V1-1	TOX	0.839657606	0	DNA binding protein	BrainSpLMD|9760;Eurexp|euxassay_006612|axial skeleton, cervical, cervico-thoracic, clavicle, cricoid, diencephalon, exoccipital bone, femur, hindbrain, inner ear, lip, lung, mandible, mantle layer, mesenchyme, metanephros, metatarsus, midbrain, nasal septum, neural retina, orbito-sphenoid, pelvic girdle, penis, phalanx, rib, scapula, stomach, telencephalon, thoracic, thymus primordium, thyroid, turbinate, vault of skull, vibrissa, vomeronasal organ;BrainSpMouseDev|89963	OMIM|606863
EN-V1-1	SEZ6	0.827758897	0	Integral membrane protein	BrainSpLMD|124925	OMIM|616666
EN-V1-1	ANKRD44	0.826935823	0	Unclassified	BrainSpLMD|91526	
EN-V1-1	ASAH1	0.823579538	0	Enzyme: Hydrolase	BrainSpLMD|427;Eurexp|euxassay_004481|lung	OMIM|613468;HPO|427|Areflexia, Arthralgia, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Cherry red spot of the macula, Decreased muscle mass, Degeneration of anterior horn cells, Dementia, Difficulty walking, EEG abnormality, EMG abnormality, Facial palsy, Failure to thrive, Frequent falls, Gait disturbance, Generalized myoclonic seizures, Gowers sign, Hepatomegaly, Hoarse cry, Intellectual disability, Irritability, Joint stiffness, Joint swelling, Juvenile onset, Kyphosis, Laryngomalacia, Lipogranulomatosis, Motor delay, Myoclonus, Neurological speech impairment, Nystagmus, Oral-pharyngeal dysphagia, Osteoporosis, Periarticular subcutaneous nodules, Progressive, Progressive distal muscular atrophy, Recurrent respiratory infections, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scoliosis, Short stature, Spinal muscular atrophy, Splenomegaly, Tongue fasciculations, Tremor, Variable expressivity
EN-V1-1	ERC2	0.811204469	0	Cytoskeletal associated protein	BrainSpLMD|26059;Eurexp|euxassay_003848|adenohypophysis, adrenal gland, bladder, brain, cervical, cervico-thoracic, dermis, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, lung, metanephros, midgut, oesophagus, olfactory, retina, spinal cord, stomach, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|617250
EN-V1-1	RP11.509E10.1	0.807634716	0			
EN-V1-1	GAP43	0.806846683	0	Growth factor	BrainSpLMD|2596;Eurexp|euxassay_002973|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, midgut, nasal capsule, olfactory, rectum, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|14208	SFARI||Autism, 5 - Hypothesized but untested;OMIM|162060
EN-V1-1	RUNX1T1	0.80390594	0	Transcription regulatory protein	BrainSpLMD|862;Eurexp|euxassay_016597|dorsal grey horn, mantle layer;BrainSpMouseDev|12180	OMIM|133435;COSMIC||AML
EN-V1-1	NBEA	0.79310932	0	Anchor protein	BrainSpLMD|26960	SFARI||Autism, 4 - Minimal evidence;OMIM|604889;COSMIC||large intestine carcinoma, multiple myeloma
EN-V1-1	SMARCA2	0.792716159	0	Transcription factor	BrainSpLMD|6595;Eurexp|euxassay_000790|cerebral cortex, mesenchyme	SFARI||Autism, No category;OMIM|600014;HPO|6595|Abnormal hair pattern, Abnormality of the metacarpal bones, Absence seizures, Absent eyebrow, Absent speech, Aggressive behavior, Alopecia, Anteverted nares, Aphasia, Autosomal dominant inheritance, Blepharophimosis, Brachydactyly, Broad distal phalanx of finger, Broad philtrum, Clubbing of toes, Cryptorchidism, Curly eyelashes, Dysphasia, Echolalia, Eczema, Epileptic spasms, Everted lower lip vermilion, Excessive wrinkled skin, Failure to thrive, Global developmental delay, High, narrow palate, Highly arched eyebrow, Hypotrichosis, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint dislocation, Long eyelashes, Long philtrum, Low anterior hairline, Microcephaly, Mutism, Narrow nasal bridge, Poor speech, Prominent interphalangeal joints, Sandal gap, Scoliosis, Seizures, Severe short stature, Short metacarpal, Short metatarsal, Short palm, Short palpebral fissure, Short phalanx of finger, Smooth philtrum, Sparse scalp hair, Specific learning disability, Status epilepticus, Thick lower lip vermilion, Thick nasal alae, Thin vermilion border, Triangular face, Wide intermamillary distance, Wide mouth, Wide nasal base
EN-V1-1	KIAA1456	0.780191274	0	Unclassified;Enzyme: Aminomethyl transferase	BrainSpLMD|57604;BrainSpMouseDev|106517	OMIM|615666
EN-V1-1	NMNAT2	0.778036527	0	Unclassified;Enzyme: Transferase	BrainSpLMD|23057;Eurexp|euxassay_007621|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, medulla oblongata, metencephalon, midbrain, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608701
EN-V1-1	RAI14	0.774144981	0	Unclassified	BrainSpLMD|26064;Eurexp|euxassay_015953|axial muscle, clavicle, floor plate, floorplate, incisor, lung, mandible, maxilla, metanephros, orbito-sphenoid, palatal shelf, penis, physiological umbilical hernia, rib, roof plate, turbinate, ventricular layer	OMIM|606586
EN-V1-1	DMD	0.773510754	0	Structural protein	BrainSpLMD|1756;Eurexp|euxassay_010997|incisor, lateral wall, mantle layer, molar, ventricular layer, vibrissa	SFARI||Autism, No category;OMIM|300377;HPO|1756|Abnormal urinary color, Adult onset, Arrhythmia, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Childhood onset, Cognitive impairment, Congestive heart failure, Delayed speech and language development, Difficulty climbing stairs, Difficulty walking, Dilated cardiomyopathy, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Exercise intolerance, Falls, Fatigue, Flexion contracture, Generalized hypotonia, Global developmental delay, Gowers sign, Hyperlordosis, Hyporeflexia, Hypoventilation, Intellectual disability, Intellectual disability, mild, Motor delay, Muscle cramps, Muscle weakness, Muscular dystrophy, Myalgia, Myoglobinuria, Progressive muscle weakness, Proximal muscle weakness, Respiratory failure, Respiratory insufficiency, Scoliosis, Skeletal muscle atrophy, Specific learning disability, Waddling gait, X-linked inheritance, X-linked recessive inheritance
EN-V1-1	AUTS2	0.771426336	0	Unclassified	BrainSpLMD|26053	SFARI||Autism, 3 - Suggestive evidence;OMIM|607270;HPO|26053|Abnormal facial shape, Arthrogryposis multiplex congenita, Autism, Autosomal dominant inheritance, Brachycephaly, Cerebral palsy, Decreased palmar creases, Delayed speech and language development, Downslanted palpebral fissures, Feeding difficulties, Global developmental delay, Highly arched eyebrow, Hypertelorism, Intellectual disability, Kyphosis, Low-set ears, Microcephaly, Narrow mouth, Prominent nasal tip, Ptosis, Scoliosis, Short palpebral fissure, Short philtrum, Short stature, Small for gestational age, Strabismus, Thick eyebrow, Wide nasal base
EN-V1-1	EFNA5	0.768960667	0	Ligand	BrainSpLMD|1946;BrainSpMouseDev|13418	OMIM|601535
EN-V1-1	EPB41L3	0.766923203	0	Structural protein	BrainSpLMD|23136	OMIM|605331
EN-V1-1	LUC7L3	0.763729532	0	Transcription regulatory protein	BrainSpLMD|51747	OMIM|609434
EN-V1-1	CCDC136	0.762730411	0	Unclassified	BrainSpLMD|64753	OMIM|611902
EN-V1-1	CELF2	0.756820224	0	RNA binding protein	BrainSpLMD|10659;Eurexp|euxassay_015501|brain, spinal cord	OMIM|602538
EN-V1-1	AC004987.9	0.75473228	0			
EN-V1-1	PPP3CA	0.745227785	0	Serine/threonine phosphatase	BrainSpLMD|5530;Eurexp|euxassay_002802|dorsal root ganglion, glossopharyngeal IX, trigeminal V;BrainSpMouseDev|18818	OMIM|114105
EN-V1-1	CELF1	0.744931817	0	RNA binding protein	BrainSpLMD|10658	OMIM|601074
EN-V1-1	DYNLL1	0.738213788	0	Motor protein	BrainSpLMD|8655	OMIM|601562
EN-V1-1	GRIA3	0.737175045	0	Extracellular ligand gated channel	BrainSpLMD|2892;BrainSpMouseDev|32941	OMIM|305915;HPO|2892|Aggressive behavior, Brachycephaly, Deeply set eye, Intellectual disability, Intellectual disability, severe, Prominent supraorbital ridges, Short stature, X-linked recessive inheritance
EN-V1-1	NPEPPS	0.73566941	0	Aminopeptidase	BrainSpLMD|9520;Eurexp|euxassay_011604|dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, midgut, neural retina, submandibular gland primordium, trigeminal V, urethra, vestibulocochlear VIII, vibrissa	OMIM|606793
EN-V1-1	PCLO	0.735512971	0	Cytoskeletal protein	BrainSpLMD|27445;Eurexp|euxassay_009714|brain, cervical, cervico-thoracic, olfactory, spinal cord, thoracic;BrainSpMouseDev|26621	OMIM|604918;HPO|27445|Autosomal recessive inheritance, Brachycephaly, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy, Congenital onset, Decreased body weight, Depressed nasal bridge, Downturned corners of mouth, Full cheeks, Global developmental delay, Hearing impairment, High palate, High, narrow palate, Hyperreflexia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Long palpebral fissure, Long philtrum, Low-set ears, Macrotia, Muscular hypotonia of the trunk, Neonatal hypotonia, Optic atrophy, Poor head control, Progressive, Progressive microcephaly, Proptosis, Seizures, Short stature, Spasticity
EN-V1-1	RPS15A	0.734685881	0	Ribosomal subunit	BrainSpLMD|6210	OMIM|603674
EN-V1-1	SPTAN1	0.734423761	0	Cytoskeletal protein;Structural protein	BrainSpLMD|6709;Eurexp|euxassay_012194|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lens, mantle layer, midgut, neural retina, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|182810;HPO|6709|Abnormality of skin morphology, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Developmental regression, Epileptic encephalopathy, Generalized hypotonia, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, profound, Intellectual disability, severe, Myoclonus, Progressive microcephaly, Seizures, Spastic tetraplegia, Variable expressivity
EN-V1-1	LHX4.AS1	0.733484441	0			
EN-V1-1	SYT14	0.732747315	0	Membrane transport protein	BrainSpLMD|255928	OMIM|610949;HPO|255928|Autosomal recessive inheritance, Cerebellar atrophy, Dysarthria, Global developmental delay, Impaired smooth pursuit, Limb ataxia, Slow progression, Truncal ataxia
EN-V1-1	PBX1	0.724054163	0	Transcription regulatory protein	BrainSpLMD|5087;BrainSpMouseDev|18280	OMIM|176310;COSMIC||pre B-ALL, myoepithelioma
EN-V1-1	TANC2	0.71869086	0	Unclassified		SFARI||Autism, 4 - Minimal evidence;OMIM|615047
EN-V1-1	GNAO1	0.717306638	0	G protein	BrainSpLMD|2775;Eurexp|euxassay_018084|atrium, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, pituitary, spinal cord, stomach, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|139311;HPO|2775|Absent speech, Autosomal dominant inheritance, Cerebral atrophy, Delayed myelination, Epileptic encephalopathy, Generalized tonic seizures, Global developmental delay, Hypoplasia of the corpus callosum, Hypsarrhythmia
EN-V1-1	IGSF3	0.714219196	0	Integral membrane protein	BrainSpLMD|3321	OMIM|603491;HPO|3321|Autosomal dominant inheritance, Autosomal recessive inheritance, Dacryocystocele, Increased lacrimation, Lacrimal duct atresia
EN-V1-1	NFASC	0.713880743	0	Adhesion molecule	BrainSpLMD|23114;Eurexp|euxassay_009740|brain, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|92672	OMIM|609145
EN-V1-1	KIDINS220	0.708067471	0	Integral membrane protein	Eurexp|euxassay_009418|brain, cervical, cervico-thoracic, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|615759;HPO|57498|Astigmatism, Autosomal dominant inheritance, Cerebral atrophy, Deeply set eye, Delayed myelination, Delayed speech and language development, Dilation of lateral ventricles, Esotropia, Full cheeks, Global developmental delay, Hypermetropia, Hyperreflexia, Infantile onset, Intellectual disability, Limb hypertonia, Muscular hypotonia of the trunk, Nystagmus, Prominent forehead, Reduced visual acuity, Spastic paraplegia
EN-V1-1	RP11.466H18.1	0.70139711	0			
EN-V1-1	CDKL5	0.70065322	0	Serine/threonine kinase	BrainSpLMD|6792	SFARI||Autism, No category;OMIM|300203;HPO|6792|Abnormality of movement, Abnormality of skin morphology, Abnormality of the antitragus, Abnormality of the fingernails, Abnormality of the metacarpal bones, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Broad forehead, Camptodactyly of finger, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Constipation, Deeply set eye, Developmental regression, EEG abnormality, Epileptic encephalopathy, Fine hair, Gastroesophageal reflux, Generalized hypotonia, Generalized myoclonic seizures, Global developmental delay, Hearing impairment, Hyperventilation, Hypsarrhythmia, Inability to walk, Infantile onset, Infantile spasms, Intellectual disability, Intellectual disability, profound, Long philtrum, Microcephaly, Multifocal seizures, Myoclonus, Nephrolithiasis, Poor eye contact, Progressive microcephaly, Prominent forehead, Scoliosis, Seizures, Short foot, Short palm, Small hand, Spasticity, Stereotypy, Tapered finger, Thick lower lip vermilion, Thick vermilion border, Underdeveloped nasal alae, Ventriculomegaly, Wide mouth, Wide nose, X-linked dominant inheritance
EN-V1-1	MCTS1	0.693538908	0	Cell cycle control protein	BrainSpLMD|28985	OMIM|300587
EN-V1-1	CALM1	0.68969493	0	Calcium binding protein	BrainSpLMD|801	OMIM|114180;HPO|801|Autosomal dominant inheritance, Cardiac arrest, Prolonged QT interval, Sudden death, Syncope, Ventricular tachycardia, Vertigo
EN-V1-1	PPP2R2B	0.686478038	0	Regulatory/other subunit;Serine/threonine phosphatase	BrainSpLMD|5521;Eurexp|euxassay_007301|Meckel's cartilage, brain, eyelid, facial VII, glossopharyngeal IX, inner ear, left lung, neural retina, orbito-sphenoid, right lung, skeletal muscle, spinal cord, tongue, trigeminal V, turbinate, vagus X, vestibulocochlear VIII	OMIM|604325;HPO|5521|Abnormality of eye movement, Action tremor, Anxiety, Autosomal dominant inheritance, Axial dystonia, Cerebellar atrophy, Cerebral cortical atrophy, Delusions, Dementia, Depressivity, Dysarthria, Dysdiadochokinesis, Dysmetria, Facial myokymia, Head tremor, Hyperreflexia, Parkinsonism, Progressive cerebellar ataxia, Sensorimotor neuropathy
EN-V1-1	BCL7A	0.68354798	0	Adapter molecule	Eurexp|euxassay_009092|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, medulla oblongata, metanephros, metencephalon, midbrain, molar, neural retina, olfactory, spinal cord, telencephalon, thymus primordium, thyroid, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|601406;COSMIC||BNHL
EN-V1-1	MAPT	0.67519796	0	Structural protein	BrainSpLMD|4137;Eurexp|euxassay_002990|calyces, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, hindgut, mantle layer, marginal layer, midbrain, midgut, neural retina, olfactory, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|17529	OMIM|157140;HPO|4137|Abnormal brain FDG positron emission tomography, Abnormal pyramidal signs, Abnormality of the cerebral white matter, Adult onset, Aggressive behavior, Akinesia, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apathy, Apraxia, Autosomal dominant inheritance, Axial dystonia, Blurred vision, Bradykinesia, Collectionism, Dementia, Depressivity, Diplopia, Disinhibition, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphagia, Dysphasia, EEG with continuous slow activity, Echolalia, Emotional blunting, Eyelid apraxia, Falls, Frontal lobe dementia, Frontolimbic dementia, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait imbalance, Gliosis, Grammar-specific speech disorder, Granulovacuolar degeneration, Heterogeneous, Hyperorality, Inappropriate behavior, Inappropriate laughter, Inappropriate sexual behavior, Irritability, Kyphoscoliosis, Lack of insight, Language impairment, Loss of speech, Memory impairment, Morphological abnormality of the pyramidal tract, Mutism, Neurofibrillary tangles, Neuronal loss in central nervous system, Ophthalmoparesis, Parkinsonism, Perseveration, Personality changes, Photophobia, Polyphagia, Poor speech, Primitive reflex, Restlessness, Restrictive behavior, Retrocollis, Rigidity, Spoken Word Recognition Deficit, Sporadic, Stereotypy, Supranuclear gaze palsy, Temporal cortical atrophy, Thickened nuchal skin fold, Tremor
EN-V1-1	KIFAP3	0.674047244	0	Transport/cargo protein	BrainSpLMD|22920;Eurexp|euxassay_012381|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, mesenchyme, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601836
EN-V1-1	TNR	0.67274791	0	Extracellular matrix protein	BrainSpLMD|7143;Eurexp|euxassay_012507|mantle layer, tegmentum, ventral grey horn	OMIM|601995
EN-V1-1	SYT1	0.66662523	0	Calcium binding protein	BrainSpLMD|6857;Eurexp|euxassay_018026|adrenal gland, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, epithelium, external, facial VII, foregut-midgut junction, glossopharyngeal IX, hindbrain, hindgut, incisor, limb, mantle layer, marginal layer, mesenchyme, midbrain, midgut, neural retina, oesophagus, olfactory, oral epithelium, pectoralis major, pectoralis minor, pituitary, retina, spinal cord, stomach, stroma, thoracic, tongue, trigeminal V, ureter, urethra, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|20740	OMIM|185605
EN-V1-1	NUMB	0.664946083	0	Unclassified	BrainSpLMD|8650;Eurexp|euxassay_012553|ventricle;BrainSpMouseDev|17989	OMIM|603728
EN-V1-1	CXADR	0.663914243	0	Cell surface receptor	BrainSpLMD|1525;Eurexp|euxassay_012371|bladder, cochlea, cortex, endolymphatic duct, epidermis, epithelium, facial VII, glossopharyngeal IX, incisor, larynx, left lung, mantle layer, marginal layer, meninges, mesothelium, metanephros, midgut, molar, neural retina, olfactory, oral epithelium, pancreas, pharyngo-tympanic tube, primitive seminiferous tubules, rectum, right lung, stomach, trachea, trigeminal V, urogenital mesentery, utricle, vagus X, vestibulocochlear VIII, vibrissa	OMIM|602621
EN-V1-1	FXYD6	0.66260965	0	Ion channel	BrainSpLMD|53826;Eurexp|euxassay_005187|brain, cervical, cervico-thoracic, cortex, facial VII, spinal cord, thoracic, trigeminal V, vagus X, valve, vestibulocochlear VIII;BrainSpMouseDev|37655	OMIM|606683
EN-V1-1	THY1	0.661865788	0	Unclassified	BrainSpLMD|7070;Eurexp|euxassay_018968|anterior, calyces, dermis, femur, fibula, humerus, incisor, mantle layer, metanephros, pelvic girdle, pelvis, renal/urinary system, scapula, sublingual gland primordium, thymus primordium, tibia, ureter, ventral grey horn, vibrissa	OMIM|188230
EN-V1-1	MPPED1	0.656838217	0	Enzyme: Esterase	Eurexp|euxassay_009802|incisor, mantle layer, marginal layer, molar;BrainSpMouseDev|85966	OMIM|602112
EN-V1-1	CSRP2	0.653843719	0	Adapter molecule	BrainSpLMD|1466;Eurexp|euxassay_016538|aorta, bladder, dorsal grey horn, hindgut, intermediate grey horn, mantle layer, midgut, neural retina, orbito-sphenoid, pancreas, skeletal muscle, stomach, temporal bone, turbinate, vault of skull	OMIM|601871
EN-V1-1	ST8SIA1	0.649643029	0	Enzyme: Sialyltransferase	BrainSpLMD|6489;Eurexp|euxassay_000637|dorsal root ganglion, inferior, superior, trigeminal V, vagus X	OMIM|601123
EN-V1-1	NDFIP1	0.647748476	0	Adapter molecule	BrainSpLMD|80762;Eurexp|euxassay_010361|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, maxilla, midgut, neural retina, rib, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612050
EN-V1-1	ANK3	0.644240883	0	Adapter molecule	BrainSpLMD|288;BrainSpMouseDev|11522	SFARI||Autism, No category;OMIM|600465;HPO|288|Aggressive behavior, Autosomal recessive inheritance, Bruxism, Generalized hypotonia, Hyperactivity, Intellectual disability, Intellectual disability, moderate, Spasticity
EN-V1-1	REEP1	0.643072796	0	Unclassified	BrainSpLMD|65055;Eurexp|euxassay_005277|brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, skeletal muscle, spinal cord, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|609139;HPO|65055|Ankle clonus, Areflexia, Autosomal dominant inheritance, Babinski sign, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Hyporeflexia, Lower limb muscle weakness, Pes cavus, Skeletal muscle atrophy, Spastic gait, Spastic paraplegia, Variable expressivity
EN-V1-1	VLDLR	0.638852631	0	Cell surface receptor	BrainSpLMD|7436;Eurexp|euxassay_018469|clavicle, cortex, ductus deferens, incisor, mandible, mantle layer, marginal layer, maxilla, neural retina, olfactory, orbito-sphenoid, rib, ureter, ventral grey horn, ventricular layer, vomeronasal organ, wall	SFARI||Autism, 5 - Hypothesized but untested;OMIM|192977;HPO|7436|Abnormality of metabolism/homeostasis, Ataxia, Autosomal recessive inheritance, Broad-based gait, Cataract, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral palsy, Congenital onset, Cortical gyral simplification, Delayed speech and language development, Dysarthria, Dysdiadochokinesis, Dysmetria, Gait ataxia, Gait disturbance, Gaze-evoked nystagmus, Generalized hypotonia, Global developmental delay, Hyperreflexia, Hypoplasia of the brainstem, Intellectual disability, Intention tremor, Muscular hypotonia, Nonprogressive, Pachygyria, Pes planus, Poor speech, Seizures, Short stature, Skeletal muscle atrophy, Strabismus, Truncal ataxia
EN-V1-1	MYT1L	0.633402991	0	Transcription factor	BrainSpLMD|23040;BrainSpMouseDev|17700	SFARI||Autism, 1 - High confidence;OMIM|613084;HPO|23040|Aggressive behavior, Autosomal dominant inheritance, Delayed speech and language development, Global developmental delay, Intellectual disability, Obesity
EN-V1-1	EPHB1	0.627340013	0	Receptor tyrosine kinase	BrainSpLMD|2047;Eurexp|euxassay_018955|floorplate, mantle layer, marginal layer, mesenchyme, neural retina, ventricular layer;BrainSpMouseDev|92948	OMIM|600600
EN-V1-1	KIAA1598	0.623361689	0			
EN-V1-1	LINC00461	0.621903418	0		Eurexp|euxassay_008007|marginal layer, ventricular layer	OMIM|616611
EN-V1-1	GAS5	0.617011132	0			OMIM|608280
EN-V1-1	RPL37	0.615668739	0	Ribosomal subunit		OMIM|604181
EN-V1-1	RTN1	0.613916388	0	Integral membrane protein	BrainSpLMD|6252;Eurexp|euxassay_003752|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, penis, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|600865
EN-V1-1	CHD3	0.612335972	0	DNA binding protein	BrainSpLMD|1107	OMIM|602120
EN-V1-1	MAP6	0.604730992	0	Cytoskeletal associated protein	BrainSpLMD|4135;Eurexp|euxassay_000634|cochlear component, dorsal root ganglion, facial VII, inferior, neural retina, olfactory, superior, trigeminal V, vestibular component	OMIM|601783
EN-V1-1	ATP8A1	0.596524805	0	ATPase	BrainSpLMD|10396;Eurexp|euxassay_018768|anterior, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, neural retina, olfactory, rectum, right lung, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|11766	SFARI||Autism, 5 - Hypothesized but untested;OMIM|609542
EN-V1-1	MAP2	0.595476952	0	Cytoskeletal associated protein	BrainSpLMD|4133;Eurexp|euxassay_015099|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|17523	SFARI||Autism, 5 - Hypothesized but untested;OMIM|157130
EN-V1-1	CHL1	0.594095989	0	Adhesion molecule	BrainSpLMD|10752;BrainSpMouseDev|12446	OMIM|607416;HPO|10752|Atrioventricular canal defect, Brachycephaly, Cleft palate, Cognitive impairment, Cryptorchidism, Downturned corners of mouth, Epicanthus, Hearing impairment, High palate, Hypertelorism, Intrauterine growth retardation, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscular hypotonia, Postaxial hand polydactyly, Ptosis, Short stature, Telecanthus
EN-V1-1	BEX2	0.586970053	0	Unclassified	BrainSpLMD|84707;Eurexp|euxassay_006276|bladder, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, lumen, mesenchyme, skeletal muscle, thoracic, trigeminal V, vertebral axis muscle system	OMIM|300691
EN-V1-1	CCNI	0.585296857	0	Cell cycle control protein	BrainSpLMD|10983	
EN-V1-1	FAM117B	0.576916204	0	Unclassified	BrainSpLMD|150864	
EN-V1-1	C14orf23	0.574969278	0			
EN-V1-1	UCHL1	0.574486562	0	Ubiquitin proteasome system protein	BrainSpLMD|7345;Eurexp|euxassay_007064|cervical, cervico-thoracic, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, hindgut, incisor, medulla, mesenchyme, midgut, neural retina, olfactory, skeletal muscle, stomach, testis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|191342;HPO|7345|Ankle clonus, Autosomal recessive inheritance, Babinski sign, Cerebellar atrophy, Cerebral atrophy, Dysmetria, Fasciculations, Flexion contracture, Head titubation, Myokymia, Myopia, Neurodegeneration, Nystagmus, Optic atrophy, Pes cavus, Pes planus, Progressive, Progressive visual loss, Spastic paraplegia, Tetraparesis
EN-V1-1	SRGAP2	0.560337842	0	GTPase activating protein	Eurexp|euxassay_013988|dorsal grey horn, mantle layer, ventricle, ventricular layer	OMIM|606524
EN-V1-1	PJA2	0.560252396	0	Ubiquitin proteasome system protein	BrainSpLMD|9867;Eurexp|euxassay_000283|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	
EN-V1-1	GPIHBP1	0.559239071	0	Unclassified	BrainSpLMD|338328	OMIM|612757;HPO|338328|Acute pancreatitis, Autosomal recessive inheritance, Episodic abdominal pain, Eruptive xanthomas, Failure to thrive, Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Hyperlipoproteinemia, Hypertriglyceridemia, Increased circulating chylomicron levels, Lipemia retinalis, Recurrent pancreatitis, Splenomegaly
EN-V1-1	C3orf70	0.558070403	0	Unclassified	Eurexp|euxassay_013634|dorsal grey horn, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa	
EN-V1-1	AMER2	0.556560069	0	Unclassified	BrainSpLMD|219287;Eurexp|euxassay_006362|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614659
EN-V1-1	MTRNR2L1	0.552098347	0			OMIM|616985
EN-V1-1	L1CAM	0.551696091	0	Adhesion molecule	BrainSpLMD|3897;Eurexp|euxassay_016867|alar columns, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vagus X, ventral grey horn, ventricle, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|16500	OMIM|308840;HPO|3897|Abnormal facial shape, Absent septum pellucidum, Adducted thumb, Aganglionic megacolon, Agenesis of corpus callosum, Aphasia, Aqueductal stenosis, Camptodactyly of finger, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Corticospinal tract hypoplasia, Delayed speech and language development, Flexion contracture of thumb, Gait disturbance, Hand clenching, Hemiplegia/hemiparesis, Hydrocephalus, Hyperlordosis, Hyperreflexia, Increased intracranial pressure, Inferior vermis hypoplasia, Intellectual disability, Intellectual disability, severe, Kyphosis, Macrocephaly, Microcephaly, Muscle weakness, Partial agenesis of the corpus callosum, Pes cavus, Seizures, Short stature, Shuffling gait, Spastic paraplegia, Spasticity, Strabismus, Talipes equinovarus, Ventriculomegaly, X-linked recessive inheritance
EN-V1-1	EEF1A1P13	0.547706211	0			
EN-V1-1	FANCL	0.54415492	0	Enzyme: Ligase	BrainSpLMD|55120;Eurexp|euxassay_006857|ventricular layer	OMIM|608111;HPO|55120|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Cafe-au-lait spot, Chromosome breakage, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Phenotypic variability, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
EN-V1-1	FOXG1	0.542807293	0	Transcription factor	BrainSpLMD|2290;Eurexp|euxassay_017858|glossopharyngeal IX, mantle layer, molar, olfactory, thymus primordium, vestibulocochlear VIII;BrainSpMouseDev|15004	SFARI||Autism, No category;OMIM|164874;HPO|2290|Abnormality of movement, Abnormality of the antihelix, Abnormality of the antitragus, Abnormality of the fingernails, Abnormality of the metacarpal bones, Absent speech, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Apraxia, Athetosis, Autosomal dominant inheritance, Blepharophimosis, Bruxism, Bulbous nose, Camptodactyly of finger, Cerebral cortical atrophy, Chorea, Clinodactyly of the 5th finger, Constipation, Cortical gyral simplification, Delayed myelination, Depressed nasal bridge, Developmental regression, Downslanted palpebral fissures, Drooling, Dyskinesia, Dystonia, EEG abnormality, Epicanthus, Everted lower lip vermilion, Excessive salivation, Feeding difficulties, Fine hair, Gastroesophageal reflux, Growth delay, Hearing impairment, Hypoplasia of the corpus callosum, Intellectual disability, Intellectual disability, severe, Kyphosis, Long philtrum, Macroglossia, Mandibular prognathia, Microcephaly, Motor delay, Muscular hypotonia, Neonatal hypotonia, Nephrolithiasis, Pachygyria, Palpebral edema, Pes planus, Poor eye contact, Progressive microcephaly, Prominent metopic ridge, Protruding ear, Scoliosis, Seizures, Short nose, Smooth philtrum, Spasticity, Sporadic, Stereotypy, Talipes equinovarus, Tented upper lip vermilion, Thick vermilion border, Tongue thrusting, Underdeveloped nasal alae, Ventriculomegaly, Wide mouth, Wide nose
EN-V1-1	EEF1B2	0.537370656	0	Translation regulatory protein	BrainSpLMD|1933	OMIM|600655
EN-V1-1	YWHAB	0.536352771	0	Adapter molecule	BrainSpLMD|7529;Eurexp|euxassay_012917|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn	OMIM|601289
EN-V1-1	NTM	0.532839783	0	Adhesion molecule	BrainSpLMD|50863;Eurexp|euxassay_012548|axial skeleton, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, meninges, mesenchyme, neural retina, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|87964	OMIM|607938
EN-V1-1	GRM3	0.531635948	0	G protein coupled receptor	BrainSpLMD|2913;BrainSpMouseDev|72231	OMIM|601115;COSMIC||melanoma, oral SCC
EN-V1-1	GPI	0.530810132	0	Enzyme: Isomerase	BrainSpLMD|2821	OMIM|172400;HPO|2821|Ataxia, Autosomal recessive inheritance, Cholecystitis, Decreased glucosephosphate isomerase activity, Impaired neutrophil bactericidal activity, Intellectual disability, Jaundice, Muscle weakness, Nonspherocytic hemolytic anemia, Pigment gallstones, Sensory ataxia, Splenomegaly, Spontaneous hemolytic crises
EN-V1-1	ZEB2	0.525469288	0	Transcription regulatory protein	BrainSpLMD|9839;Eurexp|euxassay_005774|bladder, dorsal grey horn, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, lung, mantle layer, metanephros, midgut, nasal septum, penis, pharyngo-tympanic tube, stomach;BrainSpMouseDev|23887	OMIM|605802;HPO|9839|Abdominal distention, Abnormality of metabolism/homeostasis, Abnormality of the abdominal wall, Abnormality of the rib cage, Absent speech, Atrial septal defect, Autosomal dominant inheritance, Broad eyebrow, Delayed eruption of teeth, Drooling, Generalized hypotonia, Happy demeanor, Hypoplasia of the corpus callosum, Intellectual disability, moderate, Motor delay, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pulmonary artery sling, Pulmonary artery stenosis, Pulmonic stenosis, Supernumerary nipple, Ventricular septal defect, Vomiting, Widely spaced teeth
EN-V1-1	TRAPPC2	0.525405737	0	Transcription regulatory protein	BrainSpLMD|6399;Eurexp|euxassay_005400|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|300202;HPO|6399|Abnormality of epiphysis morphology, Arthralgia, Barrel-shaped chest, Coxa vara, Disproportionate short stature, Disproportionate short-trunk short stature, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Irregular epiphyses, Kyphosis, Limitation of joint mobility, Lumbar hyperlordosis, Opacification of the corneal stroma, Platyspondyly, Scoliosis, Shield chest, Short femoral neck, Short neck, Short thorax, Spondyloepiphyseal dysplasia, Thoracic kyphosis, Upper limb undergrowth, X-linked recessive inheritance
EN-V1-1	NCAM1	0.518006689	0	Adhesion molecule	BrainSpLMD|4684;Eurexp|euxassay_014138|bladder, brain, cervical, cervico-thoracic, cortex, dermal component, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, pericardial cavity, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, ureter, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17734	OMIM|116930
EN-V1-1	CADPS	0.506882357	0	Membrane transport protein	BrainSpLMD|8618;Eurexp|euxassay_006311|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral wall, mantle layer, meninges, neural retina, olfactory, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|604667
EN-V1-1	EIF4A2	0.497942655	0	Translation regulatory protein	BrainSpLMD|1974	OMIM|601102;COSMIC||NHL
EN-V1-1	GSTA4	0.480502342	0	Enzyme: Glutathione transferase	BrainSpLMD|2941	OMIM|605450
EN-V1-1	FGF12	0.469837859	0	Growth factor	BrainSpLMD|2257;BrainSpMouseDev|13944	OMIM|601513;HPO|2257|Absent speech, Autosomal dominant inheritance, Cerebellar atrophy, Chronic constipation, Developmental regression, Epileptic encephalopathy, Feeding difficulties, Hypsarrhythmia, Inability to walk, Limb ataxia, Multifocal epileptiform discharges, Muscular hypotonia of the trunk, Poor speech, Status epilepticus, Variable expressivity
EN-V1-1	PHACTR1	0.457276726	0	Enzyme regulator		OMIM|608723
EN-V1-1	RP11.120I21.3	0.453213619	0			
EN-V1-1	SERINC1	0.447373348	0	Integral membrane protein	BrainSpLMD|57515;Eurexp|euxassay_003005|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614548
EN-V1-1	RPL10A	0.446665827	0	Ribosomal subunit		OMIM|615660
EN-V1-1	RPL38	0.446167775	0	Ribosomal subunit	Eurexp|euxassay_002056|thymus primordium	OMIM|604182
EN-V1-1	RPS18	0.443225624	0	Ribosomal subunit	BrainSpLMD|6222	OMIM|180473
EN-V1-1	LRRC7	0.442514214	0	Cell junction protein	BrainSpLMD|57554;Eurexp|euxassay_009687|brain, spinal cord	SFARI||Autism, No category;OMIM|614453
EN-V1-1	D4S234E	0.436158136	0			
EN-V1-1	MTURN	0.433708999	0	Unclassified	BrainSpLMD|222166	
EN-V1-1	SPTBN1	0.433506703	0	Cytoskeletal protein	BrainSpLMD|6711	OMIM|182790
EN-V1-1	SRRM4	0.433169864	0	Unclassified	BrainSpLMD|84530	SFARI||Autism, 5 - Hypothesized but untested;OMIM|613103
EN-V1-1	CEP290	0.4309961	0		BrainSpLMD|80184	SFARI||Autism, No category;OMIM|610142;HPO|80184|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the nervous system, Abnormality of the optic disc, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar vermis, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Atrial septal defect, Autistic behavior, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Blindness, Cataract, Central apnea, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cleft palate, Congenital blindness, Congenital hepatic fibrosis, Cryptorchidism, Dandy-Walker malformation, Depressed nasal ridge, Encephalocele, Episodic tachypnea, Full cheeks, Generalized hypotonia, Global developmental delay, Hemiplegia/hemiparesis, Hypertelorism, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the ovary, Hyposmia, Impaired renal concentrating ability, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Keratoconus, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nephropathy, Nystagmus, Obesity, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Pigmentary retinopathy, Postaxial foot polydactyly, Postaxial hand polydactyly, Premature ovarian insufficiency, Progressive visual loss, Ptosis, Reduced visual acuity, Renal cortical cysts, Renal cyst, Retinal coloboma, Retinal dystrophy, Rod-cone dystrophy, Sclerocornea, Seizures, Severe visual impairment, Short stature, Sloping forehead, Stage 5 chronic kidney disease, Tachypnea, Talipes, Tapetoretinal degeneration, Thickened superior cerebellar peduncle, Ventricular septal defect, Visual impairment
EN-V1-1	UNC79	0.428976907	0	Unclassified	BrainSpLMD|57578	OMIM|616884
EN-V1-1	GPM6A	0.422400467	0	Integral membrane protein	BrainSpLMD|2823;Eurexp|euxassay_005521|brain, diaphragm, epithelium, lip, mesenchyme, mesothelium, neural retina, olfactory, pericardial cavity, spinal cord, stroma	OMIM|601275
EN-V1-1	RPL18A	0.418829276	0	RNA binding protein		OMIM|604178
EN-V1-1	RPL4	0.418577386	0	Ribosomal subunit	BrainSpLMD|6124	OMIM|180479
EN-V1-1	MAP1B	0.406546941	0	Cytoskeletal associated protein	BrainSpLMD|4131;Eurexp|euxassay_009367|brain, facial VII, glossopharyngeal IX, olfactory, peripheral nervous system, retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|157129
EN-V1-1	TUBB2A	0.402908505	0		BrainSpLMD|7280;Eurexp|euxassay_006726|embryo	OMIM|615101;HPO|7280|Autosomal dominant inheritance, Cortical dysplasia, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Seizures, Variable expressivity
EN-V1-1	STXBP1	0.400100797	0	Transport/cargo protein	BrainSpLMD|6812	SFARI||Autism, 3 - Suggestive evidence;OMIM|602926;HPO|6812|Absent speech, Ataxia, Autosomal dominant inheritance, Cerebral atrophy, Cerebral hypomyelination, Cutaneous photosensitivity, Developmental regression, EEG abnormality, EEG with burst suppression, Epileptic encephalopathy, Epileptic spasms, Febrile seizures, Focal clonic seizures, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic seizures, Generalized tonic-clonic seizures, Hypoplasia of the corpus callosum, Hypsarrhythmia, Impaired horizontal smooth pursuit, Infantile encephalopathy, Intellectual disability, severe, Muscular hypotonia, Neonatal onset, Neurodevelopmental delay, Obtundation status, Pschomotor retardation, Severe global developmental delay, Spastic paraplegia, Spastic tetraplegia, Status epilepticus, Tremor, Variable expressivity
EN-V1-1	RASAL2	0.399172998	0	GTPase	BrainSpLMD|9462;Eurexp|euxassay_014140|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, trigeminal V, turbinate bones, vagus X, ventricular layer, vomeronasal organ	OMIM|606136
EN-V1-1	RPL15	0.398698965	0	Ribosomal subunit	BrainSpLMD|6138	OMIM|604174;HPO|6138|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Elevated red cell adenosine deaminase activity, Fatigue, Macrocytic anemia, Migraine, Normochromic anemia, Pallor, Reticulocytopenia, Triphalangeal thumb, Ventricular septal defect
EN-V1-1	CEP170	0.39625974	0	Unclassified	BrainSpLMD|9859	OMIM|613023
EN-V1-1	R3HDM2	0.393081396	0	Unclassified	BrainSpLMD|22864;Eurexp|euxassay_000306|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X	
EN-V1-1	PCDH9	0.383720843	0	Adhesion molecule	BrainSpLMD|5101;Eurexp|euxassay_014258|facial VII, mantle layer, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|603581
EN-V1-1	RPL31	0.376182884	0	Ribosomal subunit	BrainSpLMD|6160	OMIM|617415
EN-V1-1	AKAP12	0.373067933	0	Anchor protein	BrainSpLMD|9590	OMIM|604698
EN-V1-1	RPS8	0.36682053	0	Ribosomal subunit		OMIM|600357
EN-V1-1	MIAT	0.362312132	0			OMIM|611082
EN-V1-1	PUS7L	0.357305041	0	Unclassified	BrainSpLMD|83448;Eurexp|euxassay_001354|incisor, lung, ventricle	
EN-V1-1	FNBP1L	0.352636647	0	Cytoskeletal protein	BrainSpLMD|54874;Eurexp|euxassay_007867|diencephalon, dorsal root ganglion, glossopharyngeal IX, hindbrain, midbrain, neural retina, pituitary, spinal cord, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608848
EN-V1-1	NREP	0.34609802	0	Unclassified	BrainSpLMD|9315	OMIM|607332
EN-V1-1	EEF1A1P5	0.341134843	0			
EN-V1-1	GNB2L1	0.332848453	0			
EN-V1-1	3-Sep	0.329188928	0			
EN-V1-1	SLA	0.327020083	0	Adapter molecule	BrainSpLMD|6503	OMIM|601099
EN-V1-1	BEX1	0.324170551	0	Unclassified	BrainSpLMD|55859;Eurexp|euxassay_009948|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, metanephros, midgut, neural retina, olfactory, pancreas, paraxial mesenchyme, primitive seminiferous tubules, rest of mesenchyme, right lung, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|300690
EN-V1-1	RPL37A	0.318712557	0	Ribosomal subunit	BrainSpLMD|6168;Eurexp|euxassay_006825|embryo	OMIM|613314
EN-V1-1	STMN2	0.312257408	0	Cytoskeletal associated protein	BrainSpLMD|11075;Eurexp|euxassay_009268|cervical, cervico-thoracic, dorsal root ganglion, facial VII, footplate, forebrain, glossopharyngeal IX, handplate, hindbrain, hindgut, incisor, lip, midbrain, midgut, neural retina, oesophagus, olfactory, spinal cord, stomach, thoracic, thymus primordium, tongue, trigeminal V, vestibulocochlear VIII, vibrissa, visceral, vomeronasal organ	OMIM|600621
EN-V1-1	PFDN5	0.307621093	0	Chaperone	BrainSpLMD|5204	OMIM|604899
EN-V1-1	RPL9	0.307350216	0	Ribosomal subunit	BrainSpLMD|6133	OMIM|603686
EN-V1-1	EEF1A1	0.305729955	0	Transcription regulatory protein	BrainSpLMD|1915	OMIM|130590
EN-V1-1	CPE	0.298941504	0	Carboxypeptidase	BrainSpLMD|1363	OMIM|114855
EN-V1-1	RPL4P5	0.294420342	0			
EN-V1-1	PTPRZ1	0.291049188	0	Receptor tyrosine phosphatase	BrainSpLMD|5803;BrainSpMouseDev|19046	OMIM|176891
EN-V1-1	SCG3	0.287394329	0	Secreted polypeptide	BrainSpLMD|29106;Eurexp|euxassay_015685|adrenal gland, autonomic, basal columns, bladder, brain, central nervous system, cerebellum, cerebral cortex, cervical, cervico-thoracic, cranial, diencephalon, dorsal root ganglion, facial VII, forebrain, ganglion, glossopharyngeal IX, gut, heart, hindbrain, intraventricular portion, lateral wall, left lung, lung, mantle layer, marginal layer, maxillary division, medulla, metanephros, midbrain, nerve plexus, neural retina, renal/urinary system, retina, spinal, spinal cord, stomach, sympathetic, telencephalon, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20018	OMIM|611796
EN-V1-1	PTPRD	0.282389706	0	Receptor tyrosine phosphatase	BrainSpLMD|5789	OMIM|601598
EN-V1-1	RAB3A	0.278510518	0	GTPase	BrainSpLMD|5864;BrainSpMouseDev|19102	OMIM|179490
EN-V1-1	ATP8A2	0.875818256	1.11E-16	ATPase	BrainSpLMD|51761;Eurexp|euxassay_009705|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605870;HPO|51761|Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Cerebral palsy, Congenital onset, Corpus callosum atrophy, Dysarthria, Gait disturbance, Hyperreflexia, Inability to walk, Intellectual disability, Muscular hypotonia, Seizures, Short stature, Skeletal muscle atrophy, Strabismus, Truncal ataxia
EN-V1-1	LPPR1	0.777540683	1.11E-16			
EN-V1-1	LRRC75A.AS1	0.474880443	1.11E-16			
EN-V1-1	EID1	0.40502001	1.11E-16	Cell cycle control protein	BrainSpLMD|23741	OMIM|605894
EN-V1-1	CADM1	0.373078911	1.11E-16	Adhesion molecule	BrainSpLMD|23705;Eurexp|euxassay_014807|Meckel's cartilage, brain, cervical, cervico-thoracic, cochlea, cortex, dorsal root ganglion, facial VII, frontal bone primordium, glossopharyngeal IX, incisor, lung, molar, olfactory, orbito-sphenoid, pharyngo-tympanic tube, pituitary, spinal cord, submandibular gland primordium, thoracic, trachea, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|34014	SFARI||Autism, 4 - Minimal evidence;OMIM|605686
EN-V1-1	SULT4A1	1.552512872	2.22E-16	Enzyme: Sulphotransferase	BrainSpLMD|25830	OMIM|608359
EN-V1-1	RP11.543H23.2	1.100734969	2.22E-16			
EN-V1-1	CBWD7	0.813069359	2.22E-16			
EN-V1-1	TNIK	0.385122925	2.22E-16	Serine/threonine kinase	BrainSpLMD|23043	OMIM|610005;HPO|23043|Autosomal recessive inheritance, Delayed speech and language development, Hyperactivity, Intellectual disability
EN-V1-1	RPL24	0.332819742	2.22E-16	Ribosomal subunit		OMIM|604180
EN-V1-1	RPS14	0.273680153	2.22E-16	Ribosomal subunit	BrainSpLMD|6208	OMIM|130620;HPO|6208|Abnormality of cells of the megakaryocyte lineage, Autosomal dominant contiguous gene syndrome, Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Somatic mutation, Sporadic
EN-V1-1	KBTBD11	0.955494329	3.33E-16	Unclassified	BrainSpLMD|9920;Eurexp|euxassay_008912|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
EN-V1-1	ARGLU1	0.312487615	3.33E-16	Unclassified	BrainSpLMD|55082;Eurexp|euxassay_001755|choroid plexus, lateral recess	OMIM|614046
EN-V1-1	STIM2	1.070437313	4.44E-16	Adhesion molecule	BrainSpLMD|57620	OMIM|610841
EN-V1-1	ZNF33B	0.902128659	4.44E-16			OMIM|194522
EN-V1-1	CDC42BPA	0.460823735	4.44E-16	Serine/threonine kinase	BrainSpLMD|8476	OMIM|603412
EN-V1-1	KAT6B	0.400230599	4.44E-16	Enzyme: Acyltransferase	BrainSpLMD|23522	OMIM|605880;COSMIC||AML, leiomyoma, Genitopatellar syndrome, Say-Barber-Biesecker/Young-Simpson syndrome;HPO|23522|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of the antihelix, Abnormality of the cheek, Abnormality of the spleen, Agenesis of corpus callosum, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Arthrogryposis multiplex congenita, Atrial septal defect, Atrioventricular canal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bifid uvula, Bilateral single transverse palmar creases, Blepharophimosis, Brachydactyly, Bulbous nose, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Coarse facial features, Coarse hair, Colpocephaly, Congenital hip dislocation, Cryptorchidism, Cystic hygroma, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Downslanted palpebral fissures, Dysarthria, Dysphagia, Ectopic thyroid, Enlarged labia minora, Enlarged thorax, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Fine hair, Generalized hypotonia, Global developmental delay, Hearing impairment, Hepatomegaly, High forehead, High palate, Hip contracture, Hydronephrosis, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplastic ilia, Hypoplastic inferior pubic rami, Hypoplastic ischia, Hypothyroidism, Intellectual disability, Intellectual disability, progressive, Joint hyperflexibility, Knee flexion contracture, Laryngomalacia, Long nose, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Micropenis, Midface retrusion, Multicystic kidney dysplasia, Muscle weakness, Muscular hypotonia, Patellar aplasia, Patellar dislocation, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Periventricular gray matter heterotopia, Polyhydramnios, Posteriorly rotated ears, Prominent nasal bridge, Prominent nose, Prominent occiput, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonary hypoplasia, Recurrent respiratory infections, Retrognathia, Scoliosis, Scrotal hypoplasia, Seizures, Severe short stature, Short palm, Short palpebral fissure, Short phalanx of finger, Short stature, Sloping forehead, Sparse scalp hair, Specific learning disability, Strabismus, Submucous cleft hard palate, Talipes equinovarus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Thyroid agenesis, Thyroid hypoplasia, Triangular face, Ventricular septal defect, Webbed neck, Wide intermamillary distance, Wide nose
EN-V1-1	RP11.889L3.1	0.991817524	5.55E-16			
EN-V1-1	LINC01122	0.900300018	6.66E-16			
EN-V1-1	HECW1	0.639235756	6.66E-16	Ubiquitin proteasome system protein	BrainSpLMD|23072;Eurexp|euxassay_009392|brain, cerebral cortex, facial VII, glossopharyngeal IX, mantle layer, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610384
EN-V1-1	OSBPL10	1.483716865	7.77E-16	Transport/cargo protein	BrainSpLMD|114884;Eurexp|euxassay_008182|dorsal root ganglion, glossopharyngeal IX, mantle layer, testis, trigeminal V, ventral grey horn	OMIM|606738
EN-V1-1	CNTNAP2	1.111419913	8.88E-16	Adhesion molecule	BrainSpLMD|26047;Eurexp|euxassay_011473|facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V	SFARI||Autism, 2 - Strong candidate;OMIM|604569;COSMIC||glioma, melanoma;HPO|26047|Cortical dysplasia, Delayed gross motor development, Hyperactivity, Impaired social interactions, Intellectual disability, Progressive language deterioration, Reduced tendon reflexes, Seizures
EN-V1-1	WIPF3	0.282425064	8.88E-16	Cytoskeletal associated protein	BrainSpLMD|644150	OMIM|612432
EN-V1-1	NKAIN1	0.940153504	9.99E-16	Integral membrane protein	BrainSpLMD|79570	OMIM|612871
EN-V1-1	ZNF382	0.915764113	9.99E-16	Transcription regulatory protein	BrainSpLMD|84911	OMIM|609516
EN-V1-1	THRA	0.768872952	9.99E-16	Nuclear receptor	BrainSpLMD|7067;BrainSpMouseDev|21592	SFARI||Autism, No category;OMIM|190120;HPO|7067|Abdominal distention, Anemia, Autosomal dominant inheritance, Coarse facial features, Congenital hip dislocation, Congenital hypothyroidism, Constipation, Delayed eruption of teeth, Delayed skeletal maturation, Drowsiness, Dry skin, Feeding difficulties, Growth delay, Hypertelorism, Hypothyroidism, Increased T3/T4 ratio, Increased body weight, Jaundice, Large fontanelles, Macroglossia, Muscular hypotonia, Omphalocele, Relative macrocephaly, Sleep disturbance, Thyroid hormone receptor defect, Umbilical hernia
EN-V1-1	RTN3	0.271199954	9.99E-16	Integral membrane protein	BrainSpLMD|10313;Eurexp|euxassay_008415|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|604249
EN-V1-1	TCEAL4	0.338913819	1.11E-15	Unclassified	BrainSpLMD|79921	
EN-V1-1	ADD2	0.310063451	1.22E-15	Anchor protein	BrainSpLMD|119;Eurexp|euxassay_000013|alar plate, basal plate, bladder, brain, cerebellum, cerebral cortex, diencephalon, dorsal root ganglion, facial VII, forebrain, ganglion, glossopharyngeal IX, gut, heart, lateral wall, left, liver, lobe, lung, mantle layer, marginal layer, neural retina, olfactory cortex, olfactory lobe, pons, retina, right, submandibular gland primordium, sulcus limitans, telencephalon, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	OMIM|102681
EN-V1-1	WASF3	1.452629236	1.33E-15	Cytoskeletal associated protein	BrainSpLMD|10810;Eurexp|euxassay_003179|adrenal gland, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, spinal cord, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|605068
EN-V1-1	EIF4E3	1.130078598	1.33E-15	RNA binding protein	BrainSpLMD|317649;Eurexp|euxassay_007888|neural retina, olfactory, vomeronasal organ	OMIM|609896
EN-V1-1	EEF2	0.380126189	1.33E-15	Translation regulatory protein	BrainSpLMD|1938	OMIM|130610;HPO|1938|Adult onset, Autosomal dominant inheritance, Cerebellar atrophy, Dysarthria, Dysmetric saccades, Gait ataxia, Impaired horizontal smooth pursuit, Incoordination, Limb ataxia, Nystagmus, Slow progression, Truncal ataxia
EN-V1-1	REV1	0.709167709	1.44E-15	Enzyme: Transferase	BrainSpLMD|51455	OMIM|606134
EN-V1-1	NUDT3	0.461273789	1.44E-15	Enzyme: Hydrolase	BrainSpLMD|11165	OMIM|609228
EN-V1-1	FMNL2	0.480401591	1.67E-15	Unclassified	BrainSpLMD|114793	OMIM|616285
EN-V1-1	ENO2	0.533530377	1.78E-15	Enzyme: Hydratase	BrainSpLMD|2026;Eurexp|euxassay_018457|dorsal root ganglion, facial VII, mantle layer, trigeminal V, vagus X, ventral grey horn	OMIM|131360
EN-V1-1	TRIM2	0.412534957	2.11E-15	Unclassified	BrainSpLMD|23321;Eurexp|euxassay_008433|anterior, bladder, brain, cervical, cervico-thoracic, epithelium, facial VII, glossopharyngeal IX, hindgut, larynx, left lung, lens, mesenchyme, mesentery, metanephros, midgut, naso-lacrimal duct, neural retina, olfactory, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thoracic, trachea, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|614141;HPO|23321|Areflexia, Autosomal recessive inheritance, Broad-based gait, Decreased muscle mass, Decreased number of peripheral myelinated nerve fibers, Generalized hypotonia, Knee flexion contracture, Muscle weakness, Peripheral axonal neuropathy, Pes cavus, Respiratory insufficiency, Talipes equinovarus, Tracheomalacia, Vocal cord paralysis
EN-V1-1	DOCK4	0.378266752	2.11E-15	GTPase activating protein	BrainSpLMD|9732	SFARI||Autism, No category;OMIM|607679
EN-V1-1	HIVEP2	0.898902759	2.55E-15	DNA binding protein	BrainSpLMD|3097;Eurexp|euxassay_008979|marginal layer, mesenchyme;BrainSpMouseDev|15048	OMIM|143054;HPO|3097|Abnormal facial shape, Anxiety, Autistic behavior, Autosomal dominant inheritance, Constipation, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hyperactivity, Impulsivity, Infantile onset, Intellectual disability, Narrow mouth, Prominent nasal bridge, Tapered finger, Wide nasal bridge
EN-V1-1	CACNA1A	1.26571461	2.89E-15	Voltage gated channel	BrainSpLMD|773;Eurexp|euxassay_006343|brain, central nervous system, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|12071	SFARI||Autism, No category;OMIM|601011;HPO|773|Abnormal vestibulo-ocular reflex, Abnormality of movement, Agitation, Anxiety, Ataxia, Athetosis, Auditory hallucinations, Autosomal dominant inheritance, Cerebellar atrophy, Cerebellar vermis atrophy, Coma, Confusion, Diplopia, Downbeat nystagmus, Drowsiness, Dysarthria, Dyscalculia, Dysphagia, Dysphasia, Dystonia, EEG abnormality, Epileptic encephalopathy, Episodic ataxia, Esotropia, Fever, Flexion contracture, Gaze-evoked nystagmus, Generalized hypotonia, Genetic anticipation, Global developmental delay, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Heterogeneous, Hyperreflexia, Hypertonia, Impaired smooth pursuit, Incomplete penetrance, Migraine, Migraine with aura, Muscle weakness, Myotonia, Nystagmus, Paresthesia, Progressive, Progressive cerebellar ataxia, Psychosis, Saccadic smooth pursuit, Seizures, Sensory neuropathy, Tinnitus, Transient unilateral blurring of vision, Tremor, Vertigo, Vestibular dysfunction, Visual hallucinations
EN-V1-1	WRB	0.471742668	3.22E-15	Unclassified	BrainSpLMD|7485;Eurexp|euxassay_005059|brain, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, loop, mandible, maxilla, midgut, orbito-sphenoid, rectum, spinal cord, stomach, trigeminal V, vagus X, vestibulocochlear VIII, wall	OMIM|602915
EN-V1-1	CRLF3	0.401738008	3.77E-15	Unclassified	BrainSpLMD|51379;Eurexp|euxassay_008617|liver, thymus primordium	OMIM|614853
EN-V1-1	NPTN	0.867634998	3.89E-15	Immunoglobulin	BrainSpLMD|27020	OMIM|612820
EN-V1-1	KCNJ3	1.218024259	4.55E-15	Inward rectifier channel	BrainSpLMD|3760	OMIM|601534
EN-V1-1	KIF5A	0.263696155	4.66E-15	Motor protein	BrainSpLMD|3798;Eurexp|euxassay_018169|Meckel's cartilage, axial skeleton, basioccipital bone, brain, cervical, cervico-thoracic, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, olfactory, orbito-sphenoid, pelvic girdle, radius, rib, scapula, spinal cord, temporal bone, thoracic, tibia, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|602821;HPO|3798|Ankle clonus, Athetosis, Autosomal dominant inheritance, Babinski sign, Chorea, Congenital onset, Cortical visual impairment, Delayed myelination, Developmental stagnation, Distal sensory impairment, Dysphagia, Feeding difficulties, Generalized hypotonia, Hyperreflexia, Impaired vibration sensation in the lower limbs, Knee clonus, Lower limb muscle weakness, Microcephaly, Nystagmus, Pes cavus, Phenotypic variability, Progressive, Progressive leukoencephalopathy, Ptosis, Scoliosis, Spastic gait, Spastic paraplegia, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
EN-V1-1	KIAA1244	0.891922757	4.88E-15			
EN-V1-1	GPR27	1.122836429	5.00E-15	G protein coupled receptor	BrainSpLMD|2850	OMIM|605187
EN-V1-1	PLXNA1	0.83549442	5.22E-15	Cell surface receptor	BrainSpLMD|5361;BrainSpMouseDev|18608	OMIM|601055
EN-V1-1	FARSB	0.741497136	6.33E-15	Enzyme: Ligase	BrainSpLMD|10056;Eurexp|euxassay_006146|axial muscle, brain, cortex, cranial muscle, dorsal root ganglion, excretory component, glossopharyngeal IX, liver, lung, midgut, olfactory, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|609690
EN-V1-1	INA	0.273828698	6.99E-15	Cytoskeletal protein	BrainSpLMD|9118;Eurexp|euxassay_012424|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|605338
EN-V1-1	RPL5	0.441565413	7.66E-15	Ribosomal subunit	BrainSpLMD|6125	OMIM|603634;COSMIC||T-ALL, Diamond-Blackfan anaemia;HPO|6125|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Bifid uvula, Cleft palate, Cleft upper lip, Delayed puberty, Failure to thrive, Fatigue, Growth delay, Hypertelorism, Increased mean corpuscular volume, Macrocytic anemia, Micrognathia, Migraine, Mitral regurgitation, Mitral valve prolapse, Pallor, Patent ductus arteriosus, Persistence of hemoglobin F, Short thumb, Tetralogy of Fallot, Tracheomalacia, Ventricular hypertrophy, Ventricular septal defect
EN-V1-1	ATP5L	0.318549891	8.55E-15			
EN-V1-1	SLC29A4	0.271066115	8.66E-15	Membrane transport protein	BrainSpLMD|222962;Eurexp|euxassay_015715|choroid plexus;BrainSpMouseDev|89066	SFARI||Autism, No category;OMIM|609149
EN-V1-1	EIF3L	0.404562676	9.33E-15	Translation regulatory protein	BrainSpLMD|51386;Eurexp|euxassay_001532|thymus primordium	
EN-V1-1	SIAH3	0.718245574	1.03E-14	Unclassified	BrainSpLMD|283514	OMIM|615609
EN-V1-1	ZNF91	0.26460286	1.10E-14	Transcription regulatory protein	BrainSpLMD|7644	OMIM|603971
EN-V1-1	RPL9P7	0.316692539	1.15E-14			
EN-V1-1	RP11.981G7.1	1.090257876	1.30E-14			
EN-V1-1	LSAMP	0.562876486	1.52E-14	Adhesion molecule	BrainSpLMD|4045	OMIM|603241
EN-V1-1	CLCN4	1.225813214	1.64E-14	Voltage gated channel	BrainSpLMD|1183	OMIM|302910;HPO|1183|Coarse facial features, Generalized hypotonia, Global developmental delay, Intellectual disability, Intellectual disability, mild, X-linked recessive inheritance
EN-V1-1	TSPAN18	0.896008884	1.67E-14	Integral membrane protein	BrainSpLMD|90139;Eurexp|euxassay_002400|ventricular layer	
EN-V1-1	ARG2	1.243293196	2.01E-14	Enzyme: Hydrolase	BrainSpLMD|384;Eurexp|euxassay_018868|cortex, vibrissa	OMIM|107830
EN-V1-1	NR4A3	1.012457953	2.09E-14	Nuclear receptor	BrainSpLMD|8013;Eurexp|euxassay_016920|floorplate, marginal layer;BrainSpMouseDev|17891	OMIM|600542;COSMIC||extraskeletal myxoid chondrosarcoma;HPO|8013|Chondrosarcoma, Somatic mutation
EN-V1-1	AC004158.2	0.913559526	2.16E-14			
EN-V1-1	PEBP1	0.273255036	2.40E-14	Protease inhibitor	BrainSpLMD|5037	OMIM|604591
EN-V1-1	EIF4B	0.535014527	3.02E-14	Translation regulatory protein	BrainSpLMD|1975	OMIM|603928
EN-V1-1	KIF3A	0.469588077	3.25E-14	Motor protein	BrainSpLMD|11127	OMIM|604683
EN-V1-1	TMEM35	0.677891063	3.32E-14			
EN-V1-1	RPS21	0.338045207	3.38E-14	Ribosomal subunit	BrainSpLMD|6227	OMIM|180477
EN-V1-1	ZFAS1	0.396189989	3.39E-14			
EN-V1-1	RPL6P27	0.274510294	3.52E-14			
EN-V1-1	KCNQ3	0.483808154	3.67E-14	Voltage gated channel	BrainSpLMD|3786;Eurexp|euxassay_008387|mantle layer, marginal layer, midgut, rib, ventral grey horn;BrainSpMouseDev|75016	SFARI||Autism, 3 - Suggestive evidence;OMIM|602232;HPO|3786|Abnormality of vision, Autosomal dominant inheritance, Choreoathetosis, Deeply set eye, Dysesthesia, Dyskinesia, Focal clonic seizures, Generalized tonic-clonic seizures, Hypertonia, Muscular hypotonia, Myoclonus, Reduced consciousness/confusion, Seizures
EN-V1-1	CCDC23	0.282182944	4.52E-14			
EN-V1-1	FGF13	0.792165459	4.53E-14	Growth factor	BrainSpLMD|2258	OMIM|300070
EN-V1-1	SHANK2	0.568502561	4.59E-14	Structural protein	BrainSpLMD|22941	SFARI||Autism, 2 - Strong candidate;OMIM|603290
EN-V1-1	CBWD3	0.599785571	4.66E-14		BrainSpLMD|445571	OMIM|611080
EN-V1-1	CSAD	0.850558855	4.75E-14	Enzyme: Decarboxylase	BrainSpLMD|51380	OMIM|616569
EN-V1-1	RPL26	0.424930308	5.28E-14	Ribosomal subunit		OMIM|603704;HPO|6154|Abnormality of cells of the erythroid lineage, Abnormality of the eyelid, Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Absent thumb, Anemia, Arrhythmia, Atresia of the external auditory canal, Autosomal dominant inheritance, Bicuspid aortic valve, Cleft palate, Delayed puberty, Fatigue, Forearm reduction defects, Hypoplasia of the radius, Hypoplasia of the ulna, Macrocytic anemia, Migraine, Neutropenia, Pallor, Renal agenesis, Short stature, Stenosis of the external auditory canal
EN-V1-1	ERO1L	0.357782316	5.40E-14			
EN-V1-1	DAP	1.1565123	5.53E-14	Unclassified	BrainSpLMD|1611;Eurexp|euxassay_008199|clavicle, femur, mandible, maxilla, nucleus pulposus, orbito-sphenoid, pancreas, rib, turbinate	OMIM|600954
EN-V1-1	PCNXL2	0.62253854	5.57E-14			
EN-V1-1	FRRS1L	1.100658866	5.93E-14	Integral membrane protein		OMIM|604574;HPO|23732|Absent speech, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Developmental regression, Epileptic encephalopathy, Gait disturbance, Generalized hypotonia, Global developmental delay, Intellectual disability, Myoclonus, Rigidity, Spasticity
EN-V1-1	MASP1	0.851072201	6.05E-14	Serine protease	BrainSpLMD|5648	OMIM|600521;HPO|5648|Abnormality of eye movement, Abnormality of the anterior chamber, Atrial septal defect, Autosomal recessive inheritance, Bilateral cryptorchidism, Blepharophimosis, Broad foot, Caudal appendage, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Conductive hearing impairment, Conjunctival telangiectasia, Coronal craniosynostosis, Craniosynostosis, Dental crowding, Diastasis recti, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus inversus, Glaucoma, Growth delay, Hearing impairment, Highly arched eyebrow, Hydronephrosis, Hyperlordosis, Hypertelorism, Intellectual disability, Intellectual disability, mild, Lambdoidal craniosynostosis, Large fleshy ears, Limited pronation/supination of forearm, Microcephaly, Omphalocele, Oral cleft, Patent ductus arteriosus, Postnatal growth retardation, Ptosis, Radioulnar synostosis, Sacral dimple, Scoliosis, Short 5th finger, Short foot, Single interphalangeal crease of fifth finger, Skull asymmetry, Spina bifida occulta, Supernumerary nipple, Telecanthus, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide anterior fontanel
EN-V1-1	C14orf37	1.159451599	7.11E-14	Integral membrane protein	BrainSpLMD|145407;Eurexp|euxassay_001572|axial skeleton, dorsal root ganglion, glossopharyngeal IX, head mesenchyme, trigeminal V, vagus X, vertebral axis muscle system, vibrissa	
EN-V1-1	RPS28	0.459178262	7.38E-14	Ribosomal subunit		OMIM|603685;HPO|6234|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Broad neck, Cleft palate, Congenital diaphragmatic hernia, Delayed puberty, Downslanted palpebral fissures, Epicanthus, Fatigue, Feeding difficulties, Global developmental delay, Infantile onset, Macrocytic anemia, Micrognathia, Microtia, Midface retrusion, Migraine, Mixed hearing impairment, Pallor, Posteriorly rotated ears, Respiratory distress, Short stature, Sparse and thin eyebrow
EN-V1-1	AASDHPPT	0.514631515	7.53E-14	Enzyme: Dehydrogenase	BrainSpLMD|60496	OMIM|607756
EN-V1-1	RPL18AP3	0.416046904	7.72E-14			
EN-V1-1	PPIA	0.288118692	8.98E-14	Enzyme: Isomerase	BrainSpLMD|5478	OMIM|123840
EN-V1-1	PICALM	0.63724807	9.28E-14	Transport/cargo protein	BrainSpLMD|8301	OMIM|603025;COSMIC||T-ALL, AML
EN-V1-1	LZTS1	0.769981997	1.03E-13	Unclassified	BrainSpLMD|11178;Eurexp|euxassay_011133|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|84266	OMIM|606551;HPO|11178|Autosomal dominant inheritance, Squamous cell carcinoma
EN-V1-1	EIF3E	0.374804186	1.07E-13	Translation regulatory protein	BrainSpLMD|3646	OMIM|602210;COSMIC||colorectal
EN-V1-1	CDKL2	1.414998086	1.12E-13	Serine/threonine kinase	BrainSpLMD|8999	OMIM|603442
EN-V1-1	UPF3A	0.349266855	1.15E-13	RNA binding protein	BrainSpLMD|65110	OMIM|605530
EN-V1-1	BCAP29	0.875232181	1.24E-13	Integral membrane protein	BrainSpLMD|55973;Eurexp|euxassay_000840|dorsal root ganglion, lobe, submandibular gland primordium, thymus primordium, vagus X, ventricular layer, vibrissa	
EN-V1-1	ZRANB2	0.432478761	1.25E-13	RNA binding protein	BrainSpLMD|9406	OMIM|604347
EN-V1-1	SNAP91	1.025036085	1.28E-13	Adapter molecule	BrainSpLMD|9892;Eurexp|euxassay_000563|atrium, calyces, cervical, cervico-thoracic, choroid plexus, dorsal root ganglion, extraembryonic component, facial VII, foregut-midgut junction, glossopharyngeal IX, heart, hindgut, hindlimb, limb, mantle layer, marginal layer, mesenchyme, midgut, neural retina, olfactory, stomach, stroma, thoracic, trigeminal V, urethra, vagus X, ventricle, vertebral axis muscle system, vestibulocochlear VIII	OMIM|607923
EN-V1-1	SRPK1	0.840753071	1.35E-13	Dual specificity kinase	BrainSpLMD|6732	OMIM|601939
EN-V1-1	TOMM20	0.438202685	1.50E-13	Membrane transport protein	BrainSpLMD|9804	SFARI||Autism, 5 - Hypothesized but untested;OMIM|601848
EN-V1-1	PITPNC1	0.946942951	1.58E-13	Transport/cargo protein	BrainSpLMD|26207	OMIM|605134
EN-V1-1	ANO4	0.877346658	1.65E-13	Integral membrane protein	BrainSpLMD|121601;Eurexp|euxassay_010917|dorsal root ganglion, trigeminal V	OMIM|610111
EN-V1-1	RP11.36C20.1	0.347589086	1.65E-13			
EN-V1-1	SRCIN1	0.369048482	1.66E-13	Unclassified	BrainSpLMD|80725	OMIM|610786
EN-V1-1	SLC9B2	1.437842882	1.78E-13	Unclassified	BrainSpLMD|133308;Eurexp|euxassay_006992|femur, incisor, lip, mandible, maxilla, stomach	OMIM|611789
EN-V1-1	ATAT1	0.367682627	1.79E-13	Unclassified	BrainSpLMD|79969;Eurexp|euxassay_009892|brain, neural retina, spinal cord	OMIM|615556
EN-V1-1	RTN4	0.283614432	1.84E-13	Integral membrane protein	BrainSpLMD|57142;Eurexp|euxassay_004344|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mesenchyme, neural retina, olfactory, stroma, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|604475
EN-V1-1	GNPTAB	0.602587925	2.17E-13	Calcium binding protein	BrainSpLMD|79158	OMIM|607840;HPO|79158|Abnormality of nervous system morphology, Abnormality of the rib cage, Abnormality of the thorax, Anteverted nares, Aortic regurgitation, Atlantoaxial dislocation, Autosomal recessive inheritance, Beaking of vertebral bodies T12-L3, Broad ribs, Bullet-shaped phalanges of the hand, Cardiomegaly, Carpal bone hypoplasia, Cavernous hemangioma, Coarse facial features, Congestive heart failure, Constrictive median neuropathy, Corneal erosion, Craniosynostosis, Death in childhood, Deficiency of N-acetylglucosamine-1-phosphotransferase, Depressed nasal bridge, Diastasis recti, Dysostosis multiplex, Epicanthus, Failure to thrive, Flared iliac wings, Flat acetabular roof, Generalized hirsutism, Heart murmur, Hepatomegaly, Hernia, High forehead, Hip dislocation, Hoarse voice, Hyperopic astigmatism, Hypertrophic cardiomyopathy, Hypoplasia of the odontoid process, Hypoplastic scapulae, Increased serum beta-hexosaminidase, Increased serum iduronate sulfatase activity, Inguinal hernia, Intellectual disability, Irregular carpal bones, J-shaped sella turcica, Lack of skin elasticity, Large sella turcica, Long philtrum, Lower thoracic interpediculate narrowness, Macroglossia, Mandibular prognathia, Megalocornea, Metaphyseal widening, Mucopolysacchariduria, Myelopathy, Narrow forehead, Neonatal hypotonia, Opacification of the corneal stroma, Osteopenia, Ovoid vertebral bodies, Palpebral edema, Pathologic fracture, Progressive alveolar ridge hypertropy, Protuberant abdomen, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia, Retinal degeneration, Scoliosis, Severe global developmental delay, Severe postnatal growth retardation, Shallow acetabular fossae, Short long bone, Short ribs, Short stature, Soft tissue swelling of interphalangeal joints, Sparse and thin eyebrow, Specific learning disability, Splenomegaly, Split hand, Talipes equinovarus, Thickened calvaria, Thickened skin, Thin skin, Thoracolumbar kyphoscoliosis, Umbilical hernia, Varus deformity of humeral neck, Wide intermamillary distance
EN-V1-1	QDPR	1.014981794	2.21E-13	Enzyme: Reductase	BrainSpLMD|5860;Eurexp|euxassay_002173|dorsal root ganglion, olfactory;BrainSpMouseDev|74548	OMIM|612676;HPO|5860|Autosomal recessive inheritance, Cerebral calcification, Choreoathetosis, Dysphagia, Dystonia, Episodic fever, Excessive salivation, Global developmental delay, Hyperphenylalaninemia, Hypertonia, Infantile onset, Intellectual disability, Irritability, Microcephaly, Muscular hypotonia, Myoclonus, Progressive neurologic deterioration, Seizures, Tremor, Variable expressivity
EN-V1-1	ARID4A	0.267195006	2.23E-13	Transcription regulatory protein	BrainSpLMD|5926	OMIM|180201
EN-V1-1	MTRNR2L10	0.387725184	2.26E-13			
EN-V1-1	NCDN	0.689915709	2.27E-13	Unclassified	BrainSpLMD|23154;Eurexp|euxassay_001888|dorsal root ganglion, glossopharyngeal IX, marginal layer, trigeminal V, ventral grey horn	OMIM|608458
EN-V1-1	PDGFC	0.868219426	2.29E-13	Growth factor	BrainSpLMD|56034;Eurexp|euxassay_003799|choroid plexus, cochlea, cochlear duct, cortex, epithelium, fundus region, gland, head mesenchyme, hindgut, left lung, loop, marginal layer, mesenchyme, midgut, naris, oesophagus, olfactory, penis, pharyngo-tympanic tube, rectum, respiratory, right lung, skeletal muscle, stomach, submandibular gland primordium, tongue, urethra, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|33926	OMIM|608452
EN-V1-1	LPPR5	1.314541798	2.41E-13			
EN-V1-1	RP11.75C9.2	0.988779693	2.48E-13			
EN-V1-1	PTEN	0.357308919	2.58E-13	Lipid phosphatase	BrainSpLMD|5728;BrainSpMouseDev|18974	SFARI||Autism, 1 - High confidence;OMIM|601728;COSMIC||glioma, prostate, endometrial, harmartoma, glioma, prostate, endometrial;HPO|5728|Abnormal form of the vertebral bodies, Abnormal heart morphology, Abnormal lung lobation, Abnormal subcutaneous fat tissue distribution, Abnormal vertebral morphology, Abnormality of metabolism/homeostasis, Abnormality of the eye, Abnormality of the fallopian tube, Abnormality of the large intestine, Abnormality of the parathyroid gland, Abnormality of the penis, Abnormality of the pupil, Abnormality of the vasculature, Abnormally prominent line of Schwalbe, Absent thumb, Acanthosis nigricans, Acrokeratosis, Adenoma sebaceum, Adult onset, Amblyopia, Anal atresia, Angioid streaks of the retina, Angiokeratoma, Aqueductal stenosis, Arteriovenous malformation, Asymmetry of the thorax, Ataxia, Atypical nevi in non-sun exposed areas, Atypical nevus, Autism, Autosomal dominant inheritance, Autosomal recessive inheritance, Biparietal narrowing, Birth length greater than 97th percentile, Breast carcinoma, Broad forehead, Bronchogenic cyst, Cachexia, Cafe-au-lait spot, Calvarial hyperostosis, Capillary hemangiomas, Cataract, Cavernous hemangioma, Cognitive impairment, Colonic diverticula, Colorectal polyposis, Communicating hydrocephalus, Conjunctival hamartoma, Cranial nerve paralysis, Cutaneous melanoma, Decreased muscle mass, Delayed gross motor development, Delayed speech and language development, Depressed nasal bridge, Disproportionate tall stature, Dolichocephaly, Downslanted palpebral fissures, Endometrial carcinoma, Enlarged cerebellum, Epibulbar dermoid, Epidermal nevus, Excessive wrinkled skin, Exostoses, Fibroadenoma of the breast, Finger syndactyly, Follicular thyroid carcinoma, Frontal bossing, Furrowed tongue, Generalized hyperkeratosis, Generalized hypotonia, Genu recurvatum, Global developmental delay, Goiter, Gynecomastia, Hamartomatous polyposis, Hand polydactyly, Hashimoto thyroiditis, Headache, Hearing impairment, Hemangioma, Hematochezia, Heterochromia iridis, High palate, Hydrocele testis, Hydrocephalus, Hyperostosis, Hypertelorism, Hyperthyroidism, Hypoglycemia, Hypoplasia of the maxilla, Hypothyroidism, Increased intracranial pressure, Intellectual disability, Intellectual disability, mild, Intention tremor, Intestinal polyposis, Intraocular melanoma, Intussusception, Irregular hyperpigmentation, Joint hypermobility, Juvenile onset, Kyphosis, Lipoma, Long penis, Long philtrum, Lower limb asymmetry, Lymphangioma, Lymphedema, Macrocephaly, Macrodactyly, Macroglossia, Macrotia, Macule, Mandibular prognathia, Melanocytic nevus, Meningioma, Micrognathia, Mucosal telangiectasiae, Multiple cafe-au-lait spots, Multiple lipomas, Myopathy, Myopia, Narrow mouth, Nausea and vomiting, Neoplasm of the breast, Neoplasm of the thyroid gland, Nevus, Non-medullary thyroid carcinoma, Numerous nevi, Obesity, Open bite, Ovarian cyst, Ovarian neoplasm, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Papilloma, Papule, Pectus excavatum, Polymicrogyria, Postnatal growth retardation, Postnatal macrocephaly, Primary peritoneal carcinoma, Progressive macrocephaly, Pseudopapilledema, Pulmonary embolism, Radial club hand, Reduced bone mineral density, Renal hypoplasia, Respiratory failure, Retinal detachment, Round face, Scoliosis, Seizures, Shagreen patch, Short nose, Short stature, Skeletal dysplasia, Skin tags, Squamous cell carcinoma, Stillbirth, Strabismus, Subcutaneous hemorrhage, Subcutaneous lipoma, Subcutaneous nodule, Supernumerary nipple, Thick corpus callosum, Thrombophlebitis, Thyroid adenoma, Thyroiditis, Transitional cell carcinoma of the bladder, Trichilemmoma, Upper limb asymmetry, Varicocele, Vascular skin abnormality, Venous insufficiency, Visceral angiomatosis
EN-V1-1	PLK2	0.489200882	2.83E-13	Serine/threonine kinase	BrainSpLMD|10769;Eurexp|euxassay_015918|bladder, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, lung, mandible, mantle layer, maxilla, mesenchyme, olfactory, pancreas, sternum, ventral grey horn, vibrissa	OMIM|607023
EN-V1-1	SCAMP1	0.730389553	2.96E-13	Membrane transport protein	BrainSpLMD|9522	OMIM|606911
EN-V1-1	TMEM14A	0.340500584	2.96E-13	Integral membrane protein	BrainSpLMD|28978	OMIM|616870
EN-V1-1	RPL22	0.53871834	3.12E-13	Ribosomal subunit	BrainSpLMD|6146	OMIM|180474;COSMIC||AML, CML
EN-V1-1	RPL36	0.36129579	3.21E-13	Ribosomal subunit	BrainSpLMD|25873	
EN-V1-1	TMEM108.AS1	0.629537474	3.21E-13			
EN-V1-1	CBWD5	0.37294402	4.14E-13	Unclassified		
EN-V1-1	CCDC104	0.647834276	4.48E-13			
EN-V1-1	LRRC16A	0.466234209	4.63E-13			
EN-V1-1	LRRC49	0.369745531	4.66E-13	Unclassified	BrainSpLMD|54839	
EN-V1-1	EPRS	0.365395113	4.70E-13	Enzyme: Ligase	BrainSpLMD|2058;Eurexp|euxassay_008064|mandible, maxilla, orbito-sphenoid, rib	OMIM|138295
EN-V1-1	RPL39	0.258908863	4.76E-13	Ribosomal subunit		OMIM|300899
EN-V1-1	GSTM3	0.826116411	4.93E-13	Enzyme: Glutathione transferase	BrainSpLMD|2947;Eurexp|euxassay_018935|atrio-ventricular canal, axial muscle, basioccipital bone, basisphenoid bone, brain, central nervous system, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, labyrinth, lens, liver, mantle layer, nasal septum, neural retina, nucleus pulposus, olfactory, orbito-sphenoid, otic capsule, renal/urinary system, sphenoid, spinal cord, testis, trigeminal V, turbinate bones, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|138390
EN-V1-1	BDP1	0.379677586	5.00E-13	Transcription factor	BrainSpLMD|55814;Eurexp|euxassay_019513|dorsal root ganglion, incisor, lung, midgut, nucleus pulposus, submandibular gland primordium, vibrissa	OMIM|607012
EN-V1-1	MTMR4	0.363501286	6.28E-13	Dual specificity phosphatase	BrainSpLMD|9110	OMIM|603559
EN-V1-1	AMPH	0.638218557	6.39E-13	Adapter molecule	BrainSpLMD|273	OMIM|600418
EN-V1-1	DGKD	0.629120274	6.51E-13	Enzyme: Phosphotransferase	BrainSpLMD|8527	OMIM|601826
EN-V1-1	GLS	0.496104578	6.94E-13	Enzyme: Deaminase	BrainSpLMD|2744;BrainSpMouseDev|14436	OMIM|138280
EN-V1-1	PTDSS1	0.77427463	7.17E-13	Enzyme: Synthase	BrainSpLMD|9791;Eurexp|euxassay_003429|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa	OMIM|612792;HPO|9791|Abnormal cortical bone morphology, Abnormality of dental enamel, Abnormality of the dentition, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the nasolacrimal system, Agenesis of corpus callosum, Anteriorly placed anus, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the skin, Aplastic clavicles, Autosomal dominant inheritance, Brachydactyly, Broad clavicles, Broad forehead, Broad ribs, Choanal atresia, Choanal stenosis, Chordee, Cryptorchidism, Cutis laxa, Cutis marmorata, Delayed cranial suture closure, Delayed skeletal maturation, Diaphyseal thickening, Elbow ankylosis, Elbow flexion contracture, Epispadias, Facial hyperostosis, Facial palsy, Failure to thrive, Femoral hernia, Finger syndactyly, Flared metaphysis, Frontal bossing, Generalized hypotonia, Global developmental delay, Humeroradial synostosis, Hyperextensibility of the finger joints, Hypertelorism, Hypospadias, Inguinal hernia, Intellectual disability, Intellectual disability, moderate, Intrauterine growth retardation, Joint hyperflexibility, Knee flexion contracture, Lacrimal duct stenosis, Large fontanelles, Macrocephaly, Macrotia, Mandibular prognathia, Microglossia, Micrognathia, Osteopetrosis, Prematurely aged appearance, Progressive sclerosis of skull base, Prominent forehead, Prominent scalp veins, Proximal symphalangism of hands, Redundant skin, Relative macrocephaly, Sensorineural hearing impairment, Severe short stature, Short palm, Short stature, Sparse hair, Specific learning disability, Sporadic, Symphalangism affecting the phalanges of the hand, Syndactyly, Thick vermilion border, Thickened calvaria, Thin skin, Wide mouth
EN-V1-1	ST6GAL2	0.269855925	7.80E-13	Enzyme: Sialyltransferase	BrainSpLMD|84620	OMIM|608472
EN-V1-1	ARHGAP44	0.563495382	9.73E-13		BrainSpLMD|9912;Eurexp|euxassay_006838|facial VII, glossopharyngeal IX, left lung, mantle layer, marginal layer, neural retina, olfactory, right lung, trachea, trigeminal V, ventral grey horn	OMIM|617716
EN-V1-1	GFOD1	1.357554078	9.82E-13	Enzyme: Oxidoreductase	BrainSpLMD|54438	
EN-V1-1	ATP6V1A	0.608383172	1.03E-12	Transport/cargo protein	BrainSpLMD|523;Eurexp|euxassay_004518|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|607027;HPO|523|Abnormal apolipoprotein level, Abnormal isoelectric focusing of serum transferrin, Abnormal subcutaneous fat tissue distribution, Broad nasal tip, Carious teeth, Cerebellar hypoplasia, Coarse hair, Congenital hip dislocation, Dandy-Walker malformation, Decreased muscle mass, Delayed closure of the anterior fontanelle, Delayed speech and language development, Dementia, Downslanted palpebral fissures, Excessive wrinkled skin, Failure to thrive, Feeding difficulties, Fragmented elastic fibers in the dermis, Generalized joint laxity, Global developmental delay, High palate, Hypertelorism, Infantile muscular hypotonia, Inguinal hernia, Intellectual disability, profound, Intrauterine growth retardation, Lipodystrophy, Lissencephaly, Long philtrum, Low-set ears, Malar flattening, Motor delay, Pachygyria, Polymicrogyria, Poor speech, Postnatal growth retardation, Progressive microcephaly, Prominent nasolabial fold, Prominent veins on trunk, Psychomotor deterioration, Redundant neck skin, Seizures, Severe Myopia, Short nose, Short stature, Smooth philtrum, Sparse hair, Spasticity, Strabismus, Subretinal pigment epithelium hemorrhage, Thick cerebral cortex, Thick hair
EN-V1-1	CSDE1	0.264418349	1.03E-12	RNA binding protein	BrainSpLMD|7812	OMIM|191510
EN-V1-1	PLEKHA5	0.668513617	1.05E-12	Adapter molecule	BrainSpLMD|54477;Eurexp|euxassay_005649|basal plate, calyces, cervical, cervico-thoracic, cochlear component, dorsal root ganglion, facial VII, glossopharyngeal IX, inferior, intraventricular portion, mantle layer, metanephros, pelvis, stomach, superior, thoracic, trigeminal V, vagus X, vestibular component	OMIM|607770
EN-V1-1	OIP5.AS1	0.460879655	1.18E-12			
EN-V1-1	HINT1	0.269505372	1.20E-12	ATPase	BrainSpLMD|3094	OMIM|601314;HPO|3094|Abnormality of the foot, Autosomal recessive inheritance, Distal sensory impairment, Elevated serum creatine phosphokinase, Fasciculations, Foot dorsiflexor weakness, Hyperhidrosis, Muscle cramps, Muscle stiffness, Myokymia, Myotonia, Progressive, Sensory axonal neuropathy, Skeletal muscle atrophy
EN-V1-1	PRKAG2	1.133811699	1.20E-12	Serine/threonine kinase	BrainSpLMD|51422	OMIM|602743;HPO|51422|Ascites, Asymmetric septal hypertrophy, Atrial fibrillation, Atrioventricular block, Autosomal dominant inheritance, Autosomal recessive inheritance, Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Congestive heart failure, Cyanosis, Heterogeneous, Hypertrophic cardiomyopathy, Hypotension, Left bundle branch block, Neonatal hypoglycemia, Palpitations, Paroxysmal atrial fibrillation, Paroxysmal supraventricular tachycardia, Prolonged QRS complex, Pulmonary edema, Shortened PR interval, Sinus bradycardia, Stroke, Sudden cardiac death, Ventricular preexcitation, Ventricular preexcitation with multiple accessory pathways, Wolff-Parkinson-White syndrome
EN-V1-1	GNAI1	0.690608546	1.33E-12	G protein	BrainSpLMD|2770;Eurexp|euxassay_009056|dorsal root ganglion	OMIM|139310
EN-V1-1	COX7C	0.379025657	1.37E-12	Regulatory/other subunit		OMIM|603774
EN-V1-1	GPHN	0.736839214	1.38E-12	Anchor protein;Unclassified	BrainSpLMD|10243;Eurexp|euxassay_000272|marginal layer, ventral grey horn	SFARI||Autism, 3 - Suggestive evidence;OMIM|603930;COSMIC||AL;HPO|10243|Apnea, Aspiration, Autosomal dominant inheritance, Autosomal recessive inheritance, Exaggerated startle response, Feeding difficulties, Frequent falls, Generalized tonic-clonic seizures, Hip dislocation, Hyperreflexia, Hypertonia, Hypokinesia, Infantile onset, Inguinal hernia, Molybdenum cofactor deficiency, Muscular hypotonia of the trunk, Myoclonus, Polymicrogyria, Poor eye contact, Poor head control, Seizures, Spontaneous abortion, Umbilical hernia
EN-V1-1	EPB41L1	0.725654328	1.52E-12	Cytoskeletal associated protein	BrainSpLMD|2036;Eurexp|euxassay_016807|arm, cortex, cranium, dermis, glossopharyngeal IX, head mesenchyme, hindgut, incisor, left lung, leg, loop, lumen, mandible, mantle layer, marginal layer, maxilla, mesenchyme, midgut, phalanx, right lung, stomach, trachea, trigeminal V, ventral grey horn, vertebral axis muscle system	OMIM|602879;HPO|2036|Autosomal dominant inheritance
EN-V1-1	TMEM178A	1.215953567	1.60E-12	Unclassified	BrainSpLMD|130733;Eurexp|euxassay_007980|mantle layer, marginal layer, ventral grey horn	
EN-V1-1	RNU6.1188P	0.749463042	1.68E-12			
EN-V1-1	RP4.769N13.6	0.377141653	1.74E-12			
EN-V1-1	TBC1D24	0.364434119	1.81E-12	Unclassified	BrainSpLMD|57465;Eurexp|euxassay_010949|brain, dorsal root ganglion, facial VII, liver, mesenchyme, neural retina, olfactory, retina, spinal cord, vestibulocochlear VIII	OMIM|613577;HPO|57465|Aggressive behavior, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Developmental regression, EEG with irregular generalized spike and wave complexes, Generalized myoclonic seizures, Global developmental delay, Hearing impairment, Intellectual disability, mild, Irritability, Mental deterioration, Myoclonus, Progressive hearing impairment, Slow progression
EN-V1-1	RPL18	0.253461803	1.91E-12	Ribosomal subunit	BrainSpLMD|6141	OMIM|604179
EN-V1-1	NAB1	0.57813612	1.93E-12	Transcription regulatory protein	BrainSpLMD|4664;Eurexp|euxassay_019676|bladder;BrainSpMouseDev|17703	OMIM|600800
EN-V1-1	CAMKK2	0.506511061	2.14E-12	Enzyme: Phosphorylase	BrainSpLMD|10645;Eurexp|euxassay_003670|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, midbrain, neural retina, telencephalon, testis, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|615002
EN-V1-1	CEP63	0.575032086	2.26E-12	Unclassified	BrainSpLMD|80254;Eurexp|euxassay_012298|olfactory, vomeronasal organ	OMIM|614724;HPO|80254|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Delayed speech and language development, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
EN-V1-1	SLITRK1	0.683483565	2.28E-12	Integral membrane protein	BrainSpLMD|114798;Eurexp|euxassay_012158|axial skeleton, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, rib, skeletal muscle, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|52805	OMIM|609678;HPO|114798|Aggressive behavior, Alopecia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Echolalia, Hair-pulling, Motor tics, Multifactorial inheritance, Obsessive-compulsive behavior, Phonic tics, Self-mutilation, Sleep disturbance
EN-V1-1	WNK3	0.582970556	2.38E-12	Serine/threonine kinase	BrainSpLMD|65267	SFARI||Autism, 4 - Minimal evidence;OMIM|300358
EN-V1-1	GTDC1	0.838641504	2.39E-12	Enzyme: Glycosyltransferase	BrainSpLMD|79712;Eurexp|euxassay_005120|brain, marginal layer, spinal cord	OMIM|610165
EN-V1-1	MRPS21	0.419796003	2.50E-12	Ribosomal subunit	BrainSpLMD|54460	OMIM|611984
EN-V1-1	PSMB5	0.479111763	2.61E-12	Ubiquitin proteasome system protein	BrainSpLMD|5693;Eurexp|euxassay_005692|embryo	OMIM|600306
EN-V1-1	FOXO6	0.634080081	3.03E-12			OMIM|611457
EN-V1-1	ABI2	0.394610526	3.06E-12	Adapter molecule	BrainSpLMD|10152	OMIM|606442
EN-V1-1	NAV3	0.511312915	3.27E-12	Unclassified	BrainSpLMD|89795	OMIM|611629
EN-V1-1	RPL15P3	0.254356042	3.28E-12			
EN-V1-1	RPL24P4	0.452643564	3.53E-12			
EN-V1-1	EEF1A1P6	0.33946996	3.60E-12			
EN-V1-1	PCNX	0.426347117	3.60E-12			
EN-V1-1	JAKMIP2	0.405459391	3.75E-12	Unclassified	BrainSpLMD|9832	OMIM|611197
EN-V1-1	PELI2	0.512567297	4.03E-12	Unclassified	BrainSpLMD|57161;Eurexp|euxassay_014344|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|614798
EN-V1-1	UQCR10	0.341173762	4.05E-12	Enzyme: Oxidoreductase	BrainSpLMD|29796;Eurexp|euxassay_001948|Meckel's cartilage, adrenal gland, cortex, dorsal root ganglion, foregut-midgut junction, frontal bone primordium, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, ventral grey horn, vertebral axis muscle system, vibrissa	OMIM|610843
EN-V1-1	SMIM11	1.314933911	4.57E-12			
EN-V1-1	APLP1	0.393879583	4.74E-12	Transcription regulatory protein;Unclassified	BrainSpLMD|333;Eurexp|euxassay_005371|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, male, nasal septum, neural retina, olfactory, respiratory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|11590	OMIM|104775
EN-V1-1	GRB2	0.578960262	4.81E-12	Adapter molecule	BrainSpLMD|2885	OMIM|108355
EN-V1-1	TRIQK	1.018418052	5.02E-12			
EN-V1-1	RP11.384F7.2	0.301966041	5.18E-12			
EN-V1-1	STRBP	0.416860427	5.43E-12	RNA binding protein	BrainSpLMD|55342;Eurexp|euxassay_012970|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|611138
EN-V1-1	PDS5B	0.47036331	5.56E-12	Transcription factor	BrainSpLMD|23047	OMIM|605333
EN-V1-1	ZBTB38	0.791847085	5.61E-12	Transcription regulatory protein		OMIM|612218
EN-V1-1	ARL3	0.556891614	5.94E-12	GTPase	BrainSpLMD|403	OMIM|604695
EN-V1-1	OLFM1	0.911535982	6.58E-12	Unclassified	BrainSpLMD|10439;Eurexp|euxassay_003026|axial skeleton, cervical, cervico-thoracic, diaphragm, diencephalon, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, hindbrain, incisor, limb, mantle layer, marginal layer, midbrain, molar, neural retina, nucleus pulposus, olfactory, pectoral girdle and thoracic body wall, spinal cord, stroma, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|605366
EN-V1-1	ESD	0.542720864	6.76E-12	Enzyme: Esterase	BrainSpLMD|2098	OMIM|133280
EN-V1-1	PABPC1	0.461387862	6.84E-12	RNA binding protein	Eurexp|euxassay_005676|embryo	OMIM|604679;COSMIC||HNSCC, biliary tract carcinoma
EN-V1-1	TTLL7	0.36496482	6.93E-12	Enzyme: Ligase	BrainSpLMD|79739	
EN-V1-1	LMO3	1.386783172	7.35E-12	Transcription regulatory protein	BrainSpLMD|55885;Eurexp|euxassay_016491|intermediate grey horn, mantle layer, ventral grey horn;BrainSpMouseDev|73751	OMIM|180386
EN-V1-1	PHTF1	1.115664686	8.47E-12	Transcription factor	BrainSpLMD|10745;BrainSpMouseDev|18450	OMIM|604950
EN-V1-1	ANKRD13B	0.415382408	9.67E-12	Unclassified	BrainSpLMD|124930	OMIM|615124
EN-V1-1	MBOAT2	0.44278294	1.02E-11	Unclassified	BrainSpLMD|129642	OMIM|611949
EN-V1-1	LRRC37A2	0.265468253	1.05E-11	Integral membrane protein		OMIM|616556
EN-V1-1	SLITRK4	0.805433875	1.05E-11	Integral membrane protein	BrainSpLMD|139065;Eurexp|euxassay_012160|ventricular layer	OMIM|300562
EN-V1-1	COX7A2	0.271524967	1.06E-11	Enzyme: Oxidoreductase	BrainSpLMD|1347	OMIM|123996
EN-V1-1	RAP1GDS1	0.27449607	1.08E-11	Guanine nucleotide exchange factor	BrainSpLMD|5910;Eurexp|euxassay_003801|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, penis, trigeminal V, ventral grey horn	OMIM|179502;COSMIC||T-ALL
EN-V1-1	CADM2	1.045071996	1.12E-11	Adhesion molecule	BrainSpLMD|253559;Eurexp|euxassay_011528|basioccipital bone, femur, humerus, mantle layer, midbrain, orbito-sphenoid, pelvic girdle, petrous part, scapula, trigeminal V, turbinate	SFARI||Autism, No category;OMIM|609938
EN-V1-1	INSR	0.270471713	1.13E-11	Receptor tyrosine kinase	BrainSpLMD|3643;Eurexp|euxassay_011041|adrenal gland;BrainSpMouseDev|16110	OMIM|147670;HPO|3643|Abdominal distention, Abnormal C-peptide level, Abnormal facial shape, Abnormality of the abdominal wall, Abnormality of the thyroid gland, Acanthosis nigricans, Accelerated skeletal maturation, Adipose tissue loss, Advanced eruption of teeth, Autosomal dominant inheritance, Autosomal recessive inheritance, Brachydactyly, Cachexia, Cholestasis, Clitoral hypertrophy, Coarse facial features, Coarse hair, Cognitive impairment, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Diabetes mellitus, Diabetic ketoacidosis, Dry skin, Elfin facies, Fasting hyperinsulinemia, Fasting hypoglycemia, Fatigue, Feeding difficulties in infancy, Female pseudohermaphroditism, Generalized hirsutism, Generalized hyperpigmentation, Gingival overgrowth, Global developmental delay, Growth hormone excess, Gynecomastia, Hearing abnormality, Hepatic fibrosis, Heterogeneous, High palate, High, narrow palate, Hyperglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hyperkeratosis, Hypermelanotic macule, Hypertelorism, Hypertrichosis, Hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Inguinal hernia, Insulin-resistant diabetes mellitus, Intrauterine growth retardation, Large hands, Lipoatrophy, Long foot, Long penis, Low-set ears, Low-set, posteriorly rotated ears, Macrotia, Mandibular prognathia, Nail dysplasia, Onychauxis, Ovarian cyst, Pancreatic islet-cell hyperplasia, Peripheral neuropathy, Postnatal growth retardation, Postprandial hyperglycemia, Precocious puberty, Prematurely aged appearance, Prominent nipples, Proptosis, Proteinuria, Recurrent hypoglycemia, Recurrent infections, Recurrent respiratory infections, Seizures, Severe failure to thrive, Short stature, Skeletal muscle atrophy, Small face, Small for gestational age, Subcutaneous nodule, Thick lower lip vermilion, Thick nail, Thick nasal alae, Thickened nuchal skin fold, Type II diabetes mellitus, Umbilical hernia, Wide mouth
EN-V1-1	TMEM150C	0.621037943	1.21E-11	Unclassified	Eurexp|euxassay_005300|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, rib, thalamus, trigeminal V, ventral grey horn	OMIM|617292
EN-V1-1	PREPL	0.504423451	1.30E-11	Serine protease	BrainSpLMD|9581;Eurexp|euxassay_004469|bladder, brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, retina, spinal cord, thoracic, tongue, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII	OMIM|609557;HPO|9581|Autosomal recessive inheritance, Congenital onset, Cystinuria, Decreased fetal movement, Depressed nasal bridge, Dolichocephaly, Epicanthus, Failure to thrive, Fatigue, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, Growth delay, Growth hormone deficiency, Hypocalcemia, Hypogonadism, Intellectual disability, moderate, Lactic acidosis, Long eyelashes, Low-set, posteriorly rotated ears, Mitochondrial respiratory chain defects, Motor delay, Muscular hypotonia, Nasal speech, Nephrolithiasis, Polyphagia, Ptosis, Retrognathia, Seizures, Short stature, Tented upper lip vermilion
EN-V1-1	CTA.360L10.1	0.785553042	1.44E-11			
EN-V1-1	KMT2C	0.2770371	1.84E-11	Transcription regulatory protein	BrainSpLMD|58508;BrainSpMouseDev|87181	SFARI||Autism, 2 - Strong candidate;OMIM|606833;COSMIC||medulloblastoma
EN-V1-1	LIN7C	0.396460668	2.11E-11	Unclassified	BrainSpLMD|55327	OMIM|612332
EN-V1-1	ZMAT2	0.378228284	2.49E-11	RNA binding protein	BrainSpLMD|153527	
EN-V1-1	IER5	0.51590733	2.69E-11	Transcription regulatory protein	BrainSpLMD|51278	OMIM|607177
EN-V1-1	KIAA1467	0.517461024	2.84E-11			
EN-V1-1	PIP4K2A	0.418377227	2.92E-11	Lipid Kinase	BrainSpLMD|5305;Eurexp|euxassay_018594|basal plate, dorsal root ganglion, foregut-midgut junction, head mesenchyme, hindgut, incisor, lobe, loop, lumen, mantle layer, medullary stroma, mesenchyme, midgut, olfactory, rectum, stomach, testis, thymus primordium, ventral grey horn, vertebral axis muscle system, vomeronasal organ	OMIM|603140
EN-V1-1	RP11.999E24.3	0.886056284	2.97E-11			
EN-V1-1	RPSA	0.253522853	3.12E-11	Cell surface receptor;Ribosomal subunit	BrainSpLMD|3921	OMIM|150370;HPO|3921|Abnormality of abdomen morphology, Abnormality of metabolism/homeostasis, Asplenia, Autosomal dominant inheritance, Autosomal recessive inheritance, Infantile onset
EN-V1-1	ZC3H8	0.535583209	3.15E-11	Unclassified	BrainSpLMD|84524	
EN-V1-1	PAK1	0.374188932	3.38E-11	Serine/threonine kinase	BrainSpLMD|5058;Eurexp|euxassay_018852|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, incisor, mandible, maxilla, midbrain, molar, neural retina, spinal cord, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|18245	OMIM|602590
EN-V1-1	TMEM59	0.418079226	3.40E-11	Unclassified	BrainSpLMD|9528;Eurexp|euxassay_008205|alveolar sulcus, axial skeleton, basal columns, clavicle, femur, floor plate, floorplate, mandible, mantle layer, maxilla, olfactory, orbito-sphenoid, pituitary, rib, stomach	OMIM|617084
EN-V1-1	LL22NC03.2H8.5	0.672776644	3.46E-11			
EN-V1-1	BAI2	0.855600331	3.66E-11			
EN-V1-1	ADCY10P1	0.263537275	3.83E-11			
EN-V1-1	CACNA1B	0.311638492	4.27E-11	Voltage gated channel	BrainSpLMD|774;BrainSpMouseDev|12072	SFARI||Autism, No category;OMIM|601012;HPO|774|Adult onset, Autosomal dominant inheritance, Axial dystonia, Dysphonia, Gait disturbance, Head tremor, Limb dystonia, Myoclonus, Progressive, Torticollis, Writer's cramp
EN-V1-1	SNORA76C	0.283562858	4.30E-11			
EN-V1-1	PAK7	0.443637608	4.54E-11			
EN-V1-1	FOXG1.AS1	1.09293283	4.79E-11			
EN-V1-1	ZNF84	0.542719693	5.33E-11	DNA binding protein	BrainSpLMD|7637	
EN-V1-1	LONRF2	0.289601021	5.61E-11	DNA binding protein	BrainSpLMD|164832;Eurexp|euxassay_010821|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V	
EN-V1-1	CELF5	0.333629761	7.27E-11	RNA binding protein	BrainSpLMD|60680	OMIM|612680
EN-V1-1	MDH1	0.417787962	7.35E-11	Enzyme: Dehydrogenase	BrainSpLMD|4190	OMIM|154200
EN-V1-1	SCAPER	0.482716499	7.65E-11	DNA binding protein	BrainSpLMD|49855	OMIM|611611
EN-V1-1	SPINT2	1.158039153	7.88E-11	Protease inhibitor	BrainSpLMD|10653;Eurexp|euxassay_010770|bladder, calyces, choroid invagination, choroid plexus, cochlea, cornea, ductus deferens, ear, epidermis, epithelium, incisor, larynx, left lung, mantle layer, metanephros, midgut, molar, olfactory, oral epithelium, pancreas, pelvis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, respiratory, right lung, roof plate, stomach, submandibular gland primordium, thymus primordium, thyroid, urethra, utricle, ventricle, vibrissa, vomeronasal organ;BrainSpMouseDev|20495	OMIM|605124;HPO|10653|Abdominal distention, Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Choanal atresia, Corneal erosion, Hypertelorism, Polyhydramnios, Secretory diarrhea
EN-V1-1	CHPT1	1.135127981	8.14E-11	Enzyme: Phosphotransferase	BrainSpLMD|56994;Eurexp|euxassay_012600|midgut	OMIM|616747
EN-V1-1	LGALSL	0.950838206	8.27E-11		BrainSpLMD|29094;Eurexp|euxassay_002315|dorsal root ganglion, pectoral girdle and thoracic body wall, rib, submandibular gland primordium	
EN-V1-1	COMMD2	0.44905014	8.31E-11	Unclassified	BrainSpLMD|51122	OMIM|616699
EN-V1-1	ATRNL1	0.934216524	8.81E-11	Integral membrane protein	BrainSpLMD|26033	SFARI||Autism, 5 - Hypothesized but untested;OMIM|612869
EN-V1-1	TLE4	1.469405288	9.38E-11	Transcription factor	BrainSpLMD|7091;Eurexp|euxassay_018870|calyces, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|21647	OMIM|605132
EN-V1-1	UBE2QL1	0.603788649	9.71E-11		Eurexp|euxassay_007895|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, spinal cord, telencephalon, trigeminal V	OMIM|615832
EN-V1-1	MYT1L.AS1	0.84060749	9.80E-11			
EN-V1-1	RAB11A	0.481636569	9.83E-11	GTPase	BrainSpLMD|8766	OMIM|605570
EN-V1-1	MRS2	0.56154769	1.04E-10	Integral membrane protein	BrainSpLMD|57380	
EN-V1-1	PFKM	0.535033348	1.08E-10	Enzyme: Phosphotransferase	BrainSpLMD|5213;Eurexp|euxassay_018474|dorsal root ganglion, mantle layer, trigeminal V, vagus X, ventral grey horn, ventricular layer	OMIM|610681;HPO|5213|Anemia, Autosomal recessive inheritance, Cholelithiasis, Exercise intolerance, Exercise-induced muscle cramps, Exercise-induced myoglobinuria, Gout, Hemolytic anemia, Hyperuricemia, Increased muscle glycogen content, Increased total bilirubin, Jaundice, Muscle weakness, Myotonia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis, Skeletal muscle atrophy, Variable expressivity
EN-V1-1	GDPD1	0.496259795	1.08E-10	Enzyme: Catalase	BrainSpLMD|284161;Eurexp|euxassay_009145|bladder, brain, calyces, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, medulla, midgut, molar, olfactory, rectum, retina, spinal cord, stomach, submandibular gland primordium, thoracic, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|616317
EN-V1-1	NDUFB1	0.847557207	1.15E-10	Enzyme: Oxidoreductase	BrainSpLMD|4707	OMIM|603837
EN-V1-1	RP1.228H13.5	0.925434677	1.17E-10			
EN-V1-1	GLRX	0.741205519	1.20E-10	Enzyme: Oxidoreductase	BrainSpLMD|2745	OMIM|600443
EN-V1-1	CRIP2	0.261071778	1.31E-10	Adapter molecule	BrainSpLMD|1397;Eurexp|euxassay_002192|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X, ventricle	OMIM|601183
EN-V1-1	EDEM3	0.656199772	1.38E-10	Enzyme: Hydrolase	BrainSpLMD|80267	OMIM|610214
EN-V1-1	NME1	0.255386252	1.40E-10	Enzyme: Phosphotransferase	BrainSpLMD|4830	OMIM|156490;HPO|4830|Abdominal pain, Abnormality of the thorax, Anemia, Ataxia, Autosomal dominant inheritance, Bone pain, Diarrhea, Elevated urinary dopamine, Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Failure to thrive, Fever, Ganglioneuroblastoma, Ganglioneuroma, Heterogeneous, Horner syndrome, Hypertension, Incomplete penetrance, Myoclonus, Neuroblastoma, Opsoclonus, Skin nodule, Spinal cord compression, Sporadic, Weight loss
EN-V1-1	ACTR10	0.441857359	1.56E-10	Cytoskeletal associated protein	BrainSpLMD|55860	
EN-V1-1	CDC40	0.665051089	1.58E-10	Transcription regulatory protein	BrainSpLMD|51362;Eurexp|euxassay_012662|choroid plexus, floorplate, olfactory	OMIM|605585
EN-V1-1	ATPIF1	0.445168287	1.71E-10			
EN-V1-1	LPPR4	0.508571636	1.72E-10			
EN-V1-1	RAB2A	0.426403581	1.83E-10	GTPase	BrainSpLMD|5862	SFARI||Autism, 3 - Suggestive evidence;OMIM|179509
EN-V1-1	SLC16A1.AS1	1.077265681	1.97E-10			
EN-V1-1	IFT20	0.500585042	2.03E-10	Unclassified	BrainSpLMD|90410	OMIM|614394
EN-V1-1	DOPEY2	0.267735412	2.10E-10	Unclassified	BrainSpLMD|9980	OMIM|604803
EN-V1-1	CLIP1	0.408391317	2.10E-10	Structural protein	BrainSpLMD|6249	OMIM|179838;COSMIC||Spitzoid tumour
EN-V1-1	CMIP	0.323195594	2.10E-10		BrainSpLMD|80790	SFARI||Autism, No category;OMIM|610112
EN-V1-1	ATP2B2	0.480142712	2.38E-10	ATPase	BrainSpLMD|491;Eurexp|euxassay_012931|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|108733
EN-V1-1	RP11.33B1.1	0.620719953	2.48E-10			
EN-V1-1	AP3M2	0.752992084	2.53E-10	Transport/cargo protein	BrainSpLMD|10947;Eurexp|euxassay_014722|basal plate, brain, cervical, cervico-thoracic, cochlear component, dorsal root ganglion, facial VII, glossopharyngeal IX, inferior, neural retina, olfactory, spinal cord, stroma, superior, thoracic, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII	OMIM|610469
EN-V1-1	ARHGEF12	0.325267028	2.53E-10	Guanine nucleotide exchange factor	BrainSpLMD|23365	OMIM|604763;COSMIC||AML
EN-V1-1	AC022431.1	0.615613194	2.61E-10			
EN-V1-1	NOVA2	0.307663132	2.75E-10	RNA binding protein	BrainSpLMD|4858;Eurexp|euxassay_013411|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lung, mantle layer, neural retina, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|601991
EN-V1-1	CCSAP	0.602100715	2.92E-10	Unclassified	BrainSpLMD|126731;Eurexp|euxassay_014272|olfactory, ventricular layer, vomeronasal organ	OMIM|616762
EN-V1-1	FRY	0.605179685	2.92E-10	Unclassified	BrainSpLMD|10129;Eurexp|euxassay_016041|axial skeleton, cervical, cervico-thoracic, clavicle, cricoid, dorsal root ganglion, exoccipital bone, facial VII, fibula, glossopharyngeal IX, mantle layer, metatarsus, nasal septum, neural retina, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, rest of mesenchyme, rib, sternum, temporal bone, thoracic, thyroid, tibia, trigeminal V, turbinate, vagus X, vestibulocochlear VIII, vibrissa	OMIM|614818
EN-V1-1	CALM3	0.415544196	2.95E-10	Calcium binding protein	BrainSpLMD|808	OMIM|114183;HPO|808|Ventricular tachycardia, Vertigo
EN-V1-1	TNPO2	0.287026444	2.99E-10	Transport/cargo protein	BrainSpLMD|30000	OMIM|603002
EN-V1-1	POLE4	0.973511505	3.00E-10	DNA polymerase	BrainSpLMD|56655;BrainSpMouseDev|42822	OMIM|607269
EN-V1-1	ENTPD1	0.384865009	3.03E-10	Enzyme: Hydrolase	BrainSpLMD|953	OMIM|601752;HPO|953|Aggressive behavior, Autosomal recessive inheritance, Delayed puberty, Dysarthria, Gait disturbance, Intellectual disability, Intellectual disability, moderate, Skeletal muscle atrophy
EN-V1-1	TCEAL5	1.005377957	3.13E-10	Transcription regulatory protein		
EN-V1-1	RYR2	0.527719334	3.14E-10	Intracellular ligand gated channel	BrainSpLMD|6262	OMIM|180902;HPO|6262|Autosomal dominant inheritance, Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardias, Right ventricular cardiomyopathy, Seizures, Sudden death, Syncope, Ventricular arrhythmia, Ventricular tachycardia, Vertigo
EN-V1-1	PFDN4	0.375174798	3.15E-10	Chaperone	BrainSpLMD|5203	OMIM|604898
EN-V1-1	EIF3H	0.315469034	3.24E-10	Translation regulatory protein	BrainSpLMD|8667;Eurexp|euxassay_002980|axial skeleton	OMIM|603912
EN-V1-1	NECAP1	0.423608843	3.36E-10	Unclassified	BrainSpLMD|25977	OMIM|611623;HPO|25977|Autosomal recessive inheritance, Decreased fetal movement, Epileptic encephalopathy, Feeding difficulties, Generalized hypotonia, Global developmental delay, Muscular hypotonia of the trunk
EN-V1-1	ZCRB1	0.524755536	3.52E-10	RNA binding protein	BrainSpLMD|85437	OMIM|610750
EN-V1-1	GALNT8	1.199410191	3.54E-10	Enzyme: Transferase	BrainSpLMD|26290	OMIM|606250
EN-V1-1	TMEM59L	0.618371159	3.55E-10	Unclassified	BrainSpLMD|25789;Eurexp|euxassay_000050|nerve fibre layer, nervous system, telencephalon, trigeminal V	OMIM|617096
EN-V1-1	CTNNA2	0.364015439	3.62E-10	Cytoskeletal protein	BrainSpLMD|1496;Eurexp|euxassay_011120|anterior, anterior abdominal wall, brain, cervical, cervico-thoracic, dermal component, dermis, dorsal root ganglion, facial VII, facial bones primordia, glossopharyngeal IX, inner ear, left lung, lip, medulla, midgut, molar, neural retina, oesophagus, olfactory, primitive seminiferous tubules, rectum, right lung, spinal cord, stomach, thoracic, thymus primordium, thyroid, tongue, trigeminal V, vagus X, valve, vestibulocochlear VIII, vomeronasal organ	OMIM|114025;COSMIC||gastric cancer
EN-V1-1	ZNF518A	0.50999575	3.83E-10	DNA binding protein		OMIM|617733
EN-V1-1	RP11.981G7.6	1.165074566	3.84E-10			
EN-V1-1	HNRNPA0	0.262317507	3.91E-10	Ribonucleoprotein	BrainSpLMD|10949	OMIM|609409
EN-V1-1	LRRC27	1.218351499	4.00E-10	Unclassified	BrainSpLMD|80313	
EN-V1-1	SCUBE1	0.43210247	4.04E-10	Secreted polypeptide	BrainSpLMD|80274;BrainSpMouseDev|41281	OMIM|611746
EN-V1-1	ADCY5	0.688925774	4.30E-10	Adenylate cyclase	BrainSpLMD|111	SFARI||Autism, 4 - Minimal evidence;OMIM|600293;HPO|111|Anxiety, Autosomal dominant inheritance, Chorea, Dysarthria, Dyskinesia, Dystonia, Facial myokymia, Gait disturbance, Juvenile onset, Limb hypertonia
EN-V1-1	PELI1	0.745454622	4.55E-10	Adapter molecule	BrainSpLMD|57162;Eurexp|euxassay_011663|cortex, forebrain, hindbrain, incisor, lung, marginal layer, midbrain, molar, neural retina, olfactory, spinal cord, submandibular gland primordium, thymus primordium, vibrissa, vomeronasal organ	OMIM|614797
EN-V1-1	ACTR2	0.579759292	4.65E-10	Cytoskeletal protein	BrainSpLMD|10097	OMIM|604221
EN-V1-1	RPL32	0.310172745	4.83E-10	Ribosomal subunit		
EN-V1-1	KIF3B	0.756097984	5.34E-10	Motor protein	BrainSpLMD|9371;Eurexp|euxassay_013965|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, trigeminal V, vagus X, vomeronasal organ	OMIM|603754
EN-V1-1	PTBP3	0.573192975	5.35E-10	RNA binding protein	BrainSpLMD|9991;Eurexp|euxassay_001898|cortex, liver, lobe, olfactory, pelvis, thymus primordium, trigeminal V, vibrissa	OMIM|607527
EN-V1-1	RP11.212F11.1	0.563238673	5.55E-10			
EN-V1-1	CACNB4	0.57980024	5.61E-10	Voltage gated channel	BrainSpLMD|785;Eurexp|euxassay_010369|marginal layer	OMIM|601949;HPO|785|Autosomal dominant inheritance, Dysarthria, Episodic ataxia, Gaze-evoked nystagmus, Incomplete penetrance, Vertigo
EN-V1-1	VRK1	0.525237212	5.70E-10	Serine/threonine kinase	BrainSpLMD|7443	OMIM|602168;HPO|7443|Abnormality of the foot, Ataxia, Autosomal recessive inheritance, Basal ganglia gliosis, Cerebellar hypoplasia, Congenital contracture, Congenital onset, Degeneration of anterior horn cells, EMG: neuropathic changes, Fasciculations, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hyperreflexia, Hypoplasia of the pons, Hypoplasia of the ventral pons, Intellectual disability, Muscle weakness, Neuronal loss in basal ganglia, Progressive, Respiratory insufficiency, Spinal muscular atrophy
EN-V1-1	TBC1D32	0.287412607	6.47E-10	Unclassified	BrainSpLMD|221322	OMIM|615867
EN-V1-1	CAP2	0.392212366	6.53E-10	Unclassified	BrainSpLMD|10486;Eurexp|euxassay_002560|diaphragm, head mesenchyme, marginal layer, tongue, vertebral axis muscle system	
EN-V1-1	PAK1IP1	0.478949937	6.59E-10	Cytoskeletal associated protein	BrainSpLMD|55003;Eurexp|euxassay_000585|chondrocranium, lobe	OMIM|607811
EN-V1-1	DGUOK	0.383917355	6.61E-10	Enzyme: Phosphotransferase	BrainSpLMD|1716	OMIM|601465;HPO|1716|Abnormal conjugate eye movement, Adult onset, Ascites, Autosomal recessive inheritance, Cerebral atrophy, Cerebral cortical atrophy, Cognitive impairment, Decreased activity of mitochondrial respiratory chain, Depletion of mitochondrial DNA in liver, Distal muscle weakness, Dysphonia, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Encephalopathy, Failure to thrive, Feeding difficulties in infancy, Generalized aminoaciduria, Generalized hypotonia, Growth delay, Hepatic failure, Hepatic steatosis, Hepatocellular necrosis, Hepatomegaly, Hyperbilirubinemia, Hyperreflexia, Hypoalbuminemia, Hypoglycemia, Hyporeflexia, Hypothermia, Increased serum lactate, Jaundice, Lactic acidosis, Microcephaly, Micronodular cirrhosis, Mitochondrial myopathy, Nystagmus, Peripheral axonal neuropathy, Periportal fibrosis, Polyneuropathy, Portal hypertension, Progressive external ophthalmoplegia, Proximal muscle weakness, Ptosis, Ragged-red muscle fibers, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Splenomegaly, Thrombocytopenia, Vomiting
EN-V1-1	RAP2A	0.697078598	7.08E-10	GTPase	BrainSpLMD|5911	OMIM|179540
EN-V1-1	TNPO1	0.251112126	7.40E-10	Transport/cargo protein	BrainSpLMD|3842	OMIM|602901
EN-V1-1	CDC42	0.359737126	8.32E-10	GTPase	BrainSpLMD|998;BrainSpMouseDev|12325	OMIM|116952
EN-V1-1	WDR47	0.327486648	9.13E-10	Unclassified	BrainSpLMD|22911;Eurexp|euxassay_004509|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|615734
EN-V1-1	SMS	0.304696065	9.18E-10	Enzyme: Synthase	Eurexp|euxassay_011541|cervical, cervico-thoracic, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, incisor, left lung, mantle layer, metanephros, molar, neural retina, right lung, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|300105;HPO|6611|Abnormality of the pinna, Bifid uvula, Broad-based gait, Cleft palate, Cryptorchidism, Decreased muscle mass, Dental crowding, Dysarthria, Facial asymmetry, Generalized hypotonia, High, narrow palate, Hyperextensibility of the finger joints, Hypertelorism, Intellectual disability, Kyphoscoliosis, Long fingers, Long hallux, Long palm, Mandibular prognathia, Narrow palm, Nasal speech, Osteoporosis, Pectus carinatum, Pectus excavatum, Phenotypic variability, Recurrent fractures, Seizures, Severe Myopia, Short philtrum, Short stature, Talipes equinovarus, Tall stature, Thick lower lip vermilion, Webbed neck, Wide intermamillary distance, X-linked recessive inheritance
EN-V1-1	SAMD1	0.704685231	9.76E-10	Unclassified	BrainSpLMD|90378	
EN-V1-1	POLR1D	0.491117599	1.02E-09	RNA polymerase	BrainSpLMD|51082;Eurexp|euxassay_002352|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|19781	OMIM|613715;HPO|51082|Abnormality of bone mineral density, Absent eyelashes, Autosomal dominant inheritance, Choanal atresia, Choanal stenosis, Cleft eyelid, Cleft palate, Conductive hearing impairment, Downslanted palpebral fissures, Frontal bossing, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Iris coloboma, Low anterior hairline, Malar flattening, Micrognathia, Microtia, Midface retrusion, Narrow internal auditory canal, Open bite, Reduced number of teeth, Retrognathia, Short face, Skeletal dysplasia, Strabismus, Visual impairment, Wide nasal bridge
EN-V1-1	ARL17A	0.45507134	1.03E-09	-	BrainSpLMD|51326	
EN-V1-1	SFXN3	0.976818638	1.06E-09	Integral membrane protein	BrainSpLMD|81855	OMIM|615571
EN-V1-1	COMMD3	0.487242137	1.13E-09	Unclassified	BrainSpLMD|23412;Eurexp|euxassay_003440|pancreas, submandibular gland primordium	OMIM|616700
EN-V1-1	CSTF3	0.288179594	1.25E-09	RNA binding protein	BrainSpLMD|1479;Eurexp|euxassay_003441|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|600367
EN-V1-1	NOL4	0.69779965	1.25E-09	Unclassified	BrainSpLMD|8715;Eurexp|euxassay_008266|brain, neural retina, olfactory, spinal cord	OMIM|603577
EN-V1-1	PRMT2	0.320558685	1.36E-09	Enzyme: Methyltransferase	BrainSpLMD|3275	OMIM|601961
EN-V1-1	TMOD2	0.598903795	1.45E-09	Cytoskeletal associated protein	BrainSpLMD|29767	OMIM|602928
EN-V1-1	ACAT1	0.450309968	1.51E-09	Enzyme: Acyltransferase	BrainSpLMD|38	OMIM|607809;HPO|38|Autosomal recessive inheritance, Dehydration, Episodic ketoacidosis, Intellectual disability, Vomiting
EN-V1-1	TRAPPC4	0.416122352	1.54E-09	Transport/cargo protein	BrainSpLMD|51399;Eurexp|euxassay_002113|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, molar, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|610971
EN-V1-1	PWAR6	0.328175757	1.55E-09			
EN-V1-1	TBCA	0.330422663	1.75E-09	Chaperone	BrainSpLMD|6902;Eurexp|euxassay_009814|mantle layer, ventricular layer	OMIM|610058
EN-V1-1	RPL13	0.339855412	1.81E-09	Ribonucleoprotein	BrainSpLMD|6137	OMIM|113703
EN-V1-1	RTTN	0.922887477	1.95E-09	Unclassified	BrainSpLMD|25914	OMIM|610436;HPO|25914|Abnormality of the corpus callosum, Autosomal recessive inheritance, Dysarthria, EEG abnormality, Intellectual disability, moderate, Microcephaly, Mild short stature, Polymicrogyria, Poor speech, Seizures
EN-V1-1	GNG2	0.412867605	1.99E-09	G protein	BrainSpLMD|54331;Eurexp|euxassay_003975|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606981
EN-V1-1	DENND5B	0.655506213	1.99E-09	Unclassified	BrainSpLMD|160518	OMIM|617279
EN-V1-1	GABARAPL2	0.270073867	2.00E-09	Transport/cargo protein	BrainSpLMD|11345	OMIM|607452
EN-V1-1	IRF2BPL	0.319896413	2.04E-09	Unclassified	BrainSpLMD|64207	SFARI||Autism, 2 - Strong candidate;OMIM|611720
EN-V1-1	CELF2.AS2	0.694171935	2.13E-09			
EN-V1-1	KIAA2022	0.748035896	2.15E-09			SFARI||Autism, 3 - Suggestive evidence
EN-V1-1	AC007238.1	1.090565407	2.30E-09			
EN-V1-1	SNHG14	0.452758065	2.31E-09			OMIM|616259
EN-V1-1	NFYA	0.29052947	2.40E-09	Transcription factor	BrainSpLMD|4800;BrainSpMouseDev|17811	OMIM|189903
EN-V1-1	RP11.556K13.1	0.259764012	2.47E-09			
EN-V1-1	ATP2C1	0.504550731	2.58E-09	ATPase	BrainSpLMD|27032	OMIM|604384;HPO|27032|Acantholysis, Autosomal dominant inheritance, Erythema, Hyperkeratosis, Skin erosion, Skin vesicle
EN-V1-1	CDS2	0.306572949	2.66E-09	Enzyme: Nucleotidyltransferase	BrainSpLMD|8760	OMIM|603549
EN-V1-1	TRIM23	0.492368612	2.77E-09	GTPase	BrainSpLMD|373	OMIM|601747
EN-V1-1	SV2A	0.889102522	2.78E-09	Integral membrane protein	BrainSpLMD|9900	OMIM|185860
EN-V1-1	BTF3L4	0.317013816	2.80E-09	Unclassified	BrainSpLMD|91408;Eurexp|euxassay_006570|embryo	
EN-V1-1	KHDRBS2	0.711352443	2.83E-09	RNA binding protein	BrainSpLMD|202559	SFARI||Autism, 4 - Minimal evidence;OMIM|610487
EN-V1-1	CDK5	0.803974139	3.00E-09	Serine/threonine kinase	BrainSpLMD|1020;BrainSpMouseDev|12353	OMIM|123831;HPO|1020|Agenesis of corpus callosum, Areflexia, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Cerebellar hypoplasia, Congenital onset, Full cheeks, Global developmental delay, Hand clenching, Hirsutism, Lissencephaly, Lymphedema, Microcephaly, Micrognathia, Short neck
EN-V1-1	TRIM36	0.359479836	3.00E-09	Unclassified	BrainSpLMD|55521;Eurexp|euxassay_012029|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, trigeminal V, vagus X, ventral grey horn, vomeronasal organ;BrainSpMouseDev|27849	OMIM|609317;HPO|55521|Anencephaly, Spina bifida
EN-V1-1	ZNF195	0.332205317	3.08E-09	Transcription factor	BrainSpLMD|7748	OMIM|602187
EN-V1-1	FBXO44	0.366694814	3.21E-09	Ubiquitin proteasome system protein	BrainSpLMD|93611	OMIM|609111
EN-V1-1	RFPL1S	0.848163086	3.38E-09			OMIM|605972
EN-V1-1	RP11.397O4.1	0.478299434	3.41E-09			
EN-V1-1	ODF2L	0.271612389	3.78E-09	Unclassified	BrainSpLMD|57489	
EN-V1-1	CCT8	0.368755884	3.91E-09	Chaperone	BrainSpLMD|10694	OMIM|617786
EN-V1-1	CAMSAP2	0.937572569	3.96E-09	Unclassified	BrainSpLMD|23271;Eurexp|euxassay_013367|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, mandible, maxilla, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|613775
EN-V1-1	ACOT7	0.525570878	4.09E-09	Enzyme: Hydrolase	BrainSpLMD|11332;Eurexp|euxassay_011287|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, molar, neural retina, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|602587
EN-V1-1	HOMER1	1.060937826	4.20E-09	Adapter molecule	BrainSpLMD|9456;BrainSpMouseDev|26303	SFARI||Autism, 4 - Minimal evidence;OMIM|604798
EN-V1-1	ADAM23	0.956068746	4.22E-09	Metallo protease	BrainSpLMD|8745;Eurexp|euxassay_007602|dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, maxillary division, neural retina, skeletal muscle, sublingual gland primordium, submandibular gland primordium, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|603710
EN-V1-1	HECW2	0.606522543	4.34E-09	Ubiquitin proteasome system protein		SFARI||Autism, 3 - Suggestive evidence;OMIM|617245;HPO|57520|Abnormal facial shape, Autosomal dominant inheritance, Bulbous nose, Cerebral atrophy, Depressed nasal bridge, EEG abnormality, Epicanthus, Intellectual disability, Macrotia, Midface retrusion, Nasogastric tube feeding, Nystagmus, Recurrent hand flapping, Seizures, Self-injurious behavior, Sparse eyebrow, Telecanthus, Thick eyebrow, Thick lower lip vermilion, Wide mouth
EN-V1-1	ADCY1	0.842349172	4.44E-09	Adenylate cyclase	BrainSpLMD|107;Eurexp|euxassay_014209|facial VII, mantle layer, trigeminal V;BrainSpMouseDev|129123	OMIM|103072;HPO|107|Autosomal recessive inheritance, Prelingual sensorineural hearing impairment
EN-V1-1	UBE3A	0.277976289	4.45E-09	Ubiquitin proteasome system protein	BrainSpLMD|7337;BrainSpMouseDev|21972	SFARI||Autism, 3 - Suggestive evidence;OMIM|601623;HPO|7337|Absent speech, Apraxia, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Blue irides, Brachycephaly, Broad-based gait, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Clumsiness, Constipation, Deeply set eye, Delayed speech and language development, Drooling, EEG abnormality, Exotropia, Fair hair, Feeding difficulties in infancy, Flat occiput, Generalized hypotonia, Global developmental delay, Hyperactivity, Hyperreflexia, Hypopigmentation of the skin, Hypoplasia of the maxilla, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Limb tremor, Macroglossia, Mandibular prognathia, Motor delay, Muscular hypotonia, Myopia, Nystagmus, Obesity, Obsessive-compulsive behavior, Paroxysmal bursts of laughter, Postnatal microcephaly, Progressive gait ataxia, Protruding tongue, Scoliosis, Seizures, Sleep-wake cycle disturbance, Sporadic, Strabismus, Wide mouth, Widely spaced teeth
EN-V1-1	VTA1	0.459911487	4.88E-09	Unclassified	BrainSpLMD|51534	OMIM|610902
EN-V1-1	CDKN2D	0.578594871	4.89E-09	Cell cycle control protein	BrainSpLMD|1032;Eurexp|euxassay_006695|dorsal root ganglion, facial VII, glossopharyngeal IX, left, mantle layer, right, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|600927;HPO|1032|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus
EN-V1-1	SYT4	0.453753365	4.99E-09	Calcium binding protein	BrainSpLMD|6860	OMIM|600103
EN-V1-1	LYRM1	0.712344973	5.27E-09	Unclassified	BrainSpLMD|57149	OMIM|614709
EN-V1-1	MYCN	0.638216227	5.30E-09	Transcription factor	BrainSpLMD|4613;Eurexp|euxassay_018746|hindgut, incisor, lung, mantle layer, marginal layer, metanephros, midgut, molar, neural retina, stomach, trigeminal V, urethra, ventricular layer, vibrissa;BrainSpMouseDev|17876	OMIM|164840;COSMIC||neuroblastoma;HPO|4613|Accessory spleen, Annular pancreas, Anteverted nares, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Asplenia, Autosomal dominant inheritance, Blepharophimosis, Decreased fetal movement, Depressed nasal tip, Duodenal atresia, Elevated urinary catecholamines, Epicanthus, Esophageal atresia, Everted lower lip vermilion, Facial asymmetry, Hearing impairment, High palate, Intellectual disability, Low-set ears, Microcephaly, Micrognathia, Neoplasm of the nervous system, Patent ductus arteriosus, Polyhydramnios, Polysplenia, Posteriorly rotated ears, Prominent occiput, Short palpebral fissure, Short toe, Small anterior fontanelle, Specific learning disability, Thick vermilion border, Tracheoesophageal fistula, Triangular face, Upslanted palpebral fissure, Vocal cord paralysis, Wide nasal bridge
EN-V1-1	RP1.278E11.3	0.287375373	5.38E-09			
EN-V1-1	FAM155A	0.775769791	5.48E-09	Unclassified	Eurexp|euxassay_010352|brain, spinal cord	
EN-V1-1	RPL7P23	0.275963236	5.76E-09			
EN-V1-1	C14orf2	0.500565592	5.86E-09			
EN-V1-1	RP11.444D3.1	0.76385642	6.30E-09			
EN-V1-1	ST7.AS2	0.968605805	6.34E-09			
EN-V1-1	ZNF33A	0.283127679	6.94E-09	Transcription factor	BrainSpLMD|7581	OMIM|194521
EN-V1-1	FTO	0.31151738	7.32E-09	Unclassified	BrainSpLMD|79068	OMIM|610966;HPO|79068|Anteverted nares, Autosomal recessive inheritance, Bifid uvula, Brachydactyly, Cleft palate, Coarse facial features, Cryptorchidism, Cutis marmorata, Dandy-Walker malformation, Failure to thrive, Global developmental delay, Hydrocephalus, Hypertonia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Lissencephaly, Macroglossia, Microcephaly, Obesity, Patent ductus arteriosus, Protruding tongue, Retrognathia, Seizures, Sensorineural hearing impairment, Short neck, Skull asymmetry, Small nail, Umbilical hernia, Ventricular septal defect
EN-V1-1	EIF3I	0.283129326	7.39E-09	Translation regulatory protein	BrainSpLMD|8668;Eurexp|euxassay_008278|embryo	OMIM|603911
EN-V1-1	LPPR2	0.778590225	7.83E-09			
EN-V1-1	ATP2B4	0.497811615	7.86E-09	ATPase	BrainSpLMD|493;Eurexp|euxassay_013200|lobe, ventral grey horn	OMIM|108732
EN-V1-1	CCDC53	0.559282213	7.95E-09			
EN-V1-1	CDC42P6	0.476556407	8.16E-09			
EN-V1-1	ZDHHC8P1	0.580954762	8.42E-09		BrainSpLMD|150244	
EN-V1-1	NOVA1	0.46834415	8.49E-09	RNA binding protein	BrainSpLMD|4857	OMIM|602157
EN-V1-1	IGF2BP2	0.347396803	8.85E-09	RNA binding protein	BrainSpLMD|10644	OMIM|608289
EN-V1-1	NSF	0.545192157	8.87E-09	ATPase	BrainSpLMD|4905;Eurexp|euxassay_004886|brain, dorsal root ganglion, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vibrissa	OMIM|601633
EN-V1-1	KLC1	0.287294878	8.89E-09	Motor protein	BrainSpLMD|3831;Eurexp|euxassay_009774|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|600025
EN-V1-1	FER	0.445264196	1.02E-08	Tyrosine kinase	BrainSpLMD|2241	SFARI||Autism, No category;OMIM|176942
EN-V1-1	SCARB2	0.317402302	1.03E-08	Cell surface receptor	BrainSpLMD|950;Eurexp|euxassay_009131|embryo	OMIM|602257;HPO|950|Abdominal pain, Anemia, Anorexia, Aseptic necrosis, Autosomal recessive inheritance, Bone pain, Bruising susceptibility, Cerebellar atrophy, Delayed puberty, Delayed skeletal maturation, Dysarthria, Dysphagia, EEG with polyspike wave complexes, Focal segmental glomerulosclerosis, Gait ataxia, Generalized seizures, Gingival bleeding, Hepatomegaly, Hypersplenism, Increased bone mineral density, Intention tremor, Kyphosis, Limb ataxia, Morning myoclonic jerks, Myoclonus, Nephropathy, Nephrotic syndrome, Osteolysis, Osteopenia, Pancytopenia, Postural tremor, Proteinuria, Rapidly progressive, Renal insufficiency, Splenomegaly, Thrombocytopenia
EN-V1-1	ZNF121	0.271540482	1.03E-08	DNA binding protein	BrainSpLMD|7675	OMIM|194628
EN-V1-1	FYTTD1	0.537403777	1.05E-08	Unclassified	BrainSpLMD|84248;Eurexp|euxassay_000220|central nervous system, epidermal component, epithelium, liver, mesenchyme, olfactory	OMIM|616933
EN-V1-1	VAMP2	0.258458062	1.10E-08	Membrane transport protein	BrainSpLMD|6844	OMIM|185881
EN-V1-1	CD47	0.428262781	1.15E-08	Unclassified	BrainSpLMD|961;Eurexp|euxassay_003895|dorsal root ganglion, floorplate, glossopharyngeal IX, left, lip, mantle layer, marginal layer, olfactory, right, thalamus, thymus primordium, trigeminal V, ventral grey horn;BrainSpMouseDev|16196	OMIM|601028
EN-V1-1	TIAM2	0.277687959	1.22E-08	Guanine nucleotide exchange factor	BrainSpLMD|26230;BrainSpMouseDev|23752	OMIM|604709
EN-V1-1	C16orf87	0.458896915	1.35E-08	Unclassified	BrainSpLMD|388272;Eurexp|euxassay_000571|Meckel's cartilage, axial skeleton, head mesenchyme, incisor, lung, oesophagus, otic capsule, turbinate bones, urethra, vertebral axis muscle system	
EN-V1-1	RPS29	0.396466673	1.41E-08	Ribosomal subunit	BrainSpLMD|6235	OMIM|603633;HPO|6235|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Childhood onset, Cleft palate, Delayed puberty, Elevated red cell adenosine deaminase activity, Fatigue, Incomplete penetrance, Macrocytic anemia, Migraine, Normocytic anemia, Pallor, Variable expressivity
EN-V1-1	ST3GAL5	0.427174713	1.56E-08	Enzyme: Sialyltransferase	BrainSpLMD|8869	OMIM|604402;HPO|8869|Absent speech, Autosomal recessive inheritance, Choreoathetosis, Cortical visual impairment, Developmental regression, Developmental stagnation at onset of seizures, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Generalized tonic-clonic seizures, Global brain atrophy, Global developmental delay, Hypermelanotic macule, Hyporeflexia of upper limbs, Irritability, Lower limb hyperreflexia, Myoclonus, Optic atrophy, Status epilepticus, Visual loss, Vomiting
EN-V1-1	LINC00632	0.255493107	1.70E-08			
EN-V1-1	SLC7A6	0.690742501	1.71E-08	Membrane transport protein	BrainSpLMD|9057	OMIM|605641
EN-V1-1	WAC.AS1	0.373563492	1.80E-08			
EN-V1-1	DUSP18	0.695726248	2.00E-08	Dual specificity phosphatase	BrainSpLMD|150290;Eurexp|euxassay_018622|brain, dorsal root ganglion, neural retina, olfactory, spinal cord, trigeminal V	OMIM|611446
EN-V1-1	NDUFA12	0.386624485	2.16E-08	Enzyme: Oxidoreductase	BrainSpLMD|55967;Eurexp|euxassay_005963|embryo	OMIM|614530;HPO|55967|Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
EN-V1-1	WDR13	0.287651609	2.31E-08	Transcription regulatory protein	BrainSpLMD|64743	OMIM|300512
EN-V1-1	ARL17B	0.625056555	2.36E-08			
EN-V1-1	AASS	0.412125319	2.40E-08	Enzyme: Oxidoreductase;Enzyme: Synthase	BrainSpLMD|10157	OMIM|605113;HPO|10157|Abnormality of the genitourinary system, Anemia, Autosomal recessive inheritance, Cognitive impairment, Delayed speech and language development, EEG abnormality, Ectopia lentis, Histidinuria, Hyperactivity, Hyperlysinemia, Hyperlysinuria, Infantile onset, Intellectual disability, Intellectual disability, mild, Muscular hypotonia, Phenotypic variability, Seizures, Short attention span, Short stature, Spastic diplegia
EN-V1-1	LYRM7	0.346567025	2.41E-08	Unclassified	BrainSpLMD|90624	OMIM|615831;HPO|90624|Abnormality of the periventricular white matter, Anemia, Ataxia, Autosomal recessive inheritance, Brisk reflexes, Cerebral atrophy, Developmental regression, Dysarthria, Exotropia, External ophthalmoplegia, Failure to thrive, Gait disturbance, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Increased serum lactate, Intellectual disability, Lactic acidosis, Lethargy, Muscle weakness, Nystagmus, Optic disc pallor, Progressive, Rapidly progressive, Respiratory failure, Spastic tetraparesis
EN-V1-1	GDI1	0.306105581	2.57E-08	GTPase activating protein	BrainSpLMD|2664;Eurexp|euxassay_004022|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|300104;HPO|2664|Generalized hypotonia, Global developmental delay, Intellectual disability, X-linked dominant inheritance, X-linked inheritance
EN-V1-1	STXBP5	0.29903176	2.84E-08	Transport/cargo protein	BrainSpLMD|134957	SFARI||Autism, 3 - Suggestive evidence;OMIM|604586
EN-V1-1	TP53BP1	0.257989068	3.06E-08	Transcription regulatory protein	BrainSpLMD|7158;Eurexp|euxassay_012562|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|605230
EN-V1-1	LRCH1	0.511119692	3.13E-08	Unclassified	BrainSpLMD|23143	OMIM|610368
EN-V1-1	PGD	0.273331849	3.46E-08	Enzyme: Dehydrogenase	BrainSpLMD|5226;Eurexp|euxassay_010515|adrenal gland, axial muscle, dorsal root ganglion, liver, lung, mandible, maxilla, metanephros, midgut, orbito-sphenoid, stomach, thymus primordium	OMIM|172200
EN-V1-1	GPD2	0.572512966	3.65E-08	Enzyme: Dehydrogenase	BrainSpLMD|2820;Eurexp|euxassay_018668|nucleus pulposus, submandibular gland primordium	SFARI||Autism, No category;OMIM|138430
EN-V1-1	PAPD5	0.733797673	4.21E-08	Unclassified	BrainSpLMD|64282	OMIM|605540
EN-V1-1	UQCRH	0.264166993	4.26E-08	Enzyme: Reductase	Eurexp|euxassay_006525|anterior, axial skeleton, bladder, brain, cortex, epidermis, epithelium, external, footplate, handplate, incisor, inner ear, integumental system, left lung, liver, metanephros, midgut, molar, naso-lacrimal duct, olfactory, pancreas, paraxial mesenchyme, pharyngo-tympanic tube, posterior, rectum, renal/urinary system, rest of mesenchyme, rest of skin, retina, right lung, skeletal muscle, spinal cord, stomach, submandibular gland primordium, thymus primordium, trachea, urethra, vertebral axis muscle system, vibrissa	OMIM|613844
EN-V1-1	MT.ND2	0.25996986	4.49E-08			
EN-V1-1	PAQR3	0.822277254	4.68E-08	Integral membrane protein	BrainSpLMD|152559	OMIM|614577
EN-V1-1	DAP3	0.433951574	4.71E-08	Ribosomal subunit	BrainSpLMD|7818	OMIM|602074
EN-V1-1	AIG1	0.450044511	4.85E-08	Integral membrane protein	BrainSpLMD|51390	OMIM|608514
EN-V1-1	SOCS6	0.529041564	4.87E-08	Adapter molecule	BrainSpLMD|9306;Eurexp|euxassay_007334|alveolar sulcus, incisor, mantle layer, molar	OMIM|605118
EN-V1-1	GSTM2	0.400459484	4.93E-08	Enzyme: Glutathione transferase	BrainSpLMD|2946;Eurexp|euxassay_010417|mantle layer, olfactory, renal/urinary system, testis	OMIM|138380
EN-V1-1	FBXW7	0.68025128	5.01E-08	Ubiquitin proteasome system protein	BrainSpLMD|55294;BrainSpMouseDev|30242	OMIM|606278;COSMIC||colorectal, endometrial, T-ALL
EN-V1-1	PIANP	0.525555426	5.11E-08	Unclassified	BrainSpLMD|196500	OMIM|616065
EN-V1-1	DOCK3	0.393046576	5.43E-08	Unclassified	BrainSpLMD|1795	OMIM|603123
EN-V1-1	BIVM	0.854711723	5.57E-08	Unclassified	BrainSpLMD|54841	
EN-V1-1	ZNF570	0.266362197	6.04E-08	DNA binding protein	BrainSpLMD|148268	
EN-V1-1	TMEM169	0.393996381	6.27E-08	Integral membrane protein	BrainSpLMD|92691	
EN-V1-1	CAMLG	0.328704502	6.30E-08	Membrane bound ligand	BrainSpLMD|819;Eurexp|euxassay_001896|dorsal root ganglion, trigeminal V	OMIM|601118
EN-V1-1	NNT	0.439703458	6.98E-08	Enzyme: Oxidoreductase	BrainSpLMD|23530;Eurexp|euxassay_007280|diaphragm, left lung, oesophagus, right lung, skeletal muscle, vertebral axis muscle system	OMIM|607878;HPO|23530|Autosomal recessive inheritance, Failure to thrive, Hypoglycemia
EN-V1-1	FUBP1	0.413722744	7.02E-08	Transcription regulatory protein	BrainSpLMD|8880	OMIM|603444;COSMIC||oligodendroglioma
EN-V1-1	KLF3.AS1	0.676131693	7.27E-08			
EN-V1-1	KLHL36	0.78410329	7.33E-08	Unclassified	BrainSpLMD|79786	
EN-V1-1	PRRT2	0.452933537	7.40E-08	Integral membrane protein	BrainSpLMD|112476	OMIM|614386;HPO|112476|Abnormality of movement, Abnormality of the face, Abnormality of vision, Absence seizures, Ataxia, Autosomal dominant inheritance, Choreoathetosis, Deeply set eye, Dysesthesia, Dyskinesia, Focal seizures, Generalized seizures, Hemiplegia/hemiparesis, Hyperactive deep tendon reflexes, Hypertonia, Incomplete penetrance, Migraine, Muscular hypotonia, Myoclonus, Normal interictal EEG, Nystagmus, Orofacial dyskinesia, Paresthesia, Paroxysmal choreoathetosis, Paroxysmal dyskinesia, Paroxysmal dystonia, Reduced consciousness/confusion, Seizures, Torsion dystonia
EN-V1-1	DNAJB14	0.485575383	7.79E-08	Chaperone	BrainSpLMD|79982	OMIM|617487
EN-V1-1	FKBP1A	0.281840382	8.29E-08	Enzyme: Isomerase	BrainSpLMD|2280;Eurexp|euxassay_003477|Meckel's cartilage, incisor, lip, mantle layer, molar, orbito-sphenoid, ventral grey horn, ventricular layer	OMIM|186945
EN-V1-1	CPSF6	0.264931015	8.80E-08	RNA binding protein	BrainSpLMD|11052	OMIM|604979
EN-V1-1	RPS2	0.271001978	8.92E-08	Ribosomal subunit	BrainSpLMD|6187;Eurexp|euxassay_005928|embryo	OMIM|603624
EN-V1-1	CIRBP	0.275334761	9.02E-08	RNA binding protein	BrainSpLMD|1153	OMIM|602649
EN-V1-1	WDR19	0.274726863	9.20E-08	Transport/cargo protein	BrainSpLMD|57728	OMIM|608151;HPO|57728|Abnormal diaphysis morphology, Abnormal toenail morphology, Abnormality of pelvic girdle bone morphology, Abnormality of retinal pigmentation, Abnormality of the clavicle, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Anteverted nares, Autosomal recessive inheritance, Brachydactyly, Broad distal phalanx of finger, Broad phalanx of the toes, Cataract, Chronic tubulointerstitial nephritis, Cone-shaped epiphysis, Craniosynostosis, Cutis laxa, Dolichocephaly, Ectodermal dysplasia, Elevated serum creatinine, Epicanthus, Everted lower lip vermilion, Finger syndactyly, Frontal bossing, Full cheeks, Global developmental delay, Hepatic cysts, Hip dysplasia, Hypermetropia, Hypertension, Hypodontia, Hypotelorism, Inguinal hernia, Joint hyperflexibility, Joint hypermobility, Metaphyseal widening, Microdontia, Micromelia, Myopia, Narrow chest, Nephronophthisis, Nephropathy, Osteoporosis, Pancreatic cysts, Pectus excavatum, Pes valgus, Premature ovarian insufficiency, Progressive visual loss, Prominent occiput, Proteinuria, Reduced visual acuity, Renal hypoplasia, Respiratory insufficiency, Retinal dystrophy, Rhizomelia, Rod-cone dystrophy, Short distal phalanx of finger, Short foot, Short iliac bones, Short stature, Short thorax, Skeletal dysplasia, Sparse hair, Stage 5 chronic kidney disease, Thin upper lip vermilion, Thoracic dysplasia, Visual impairment
EN-V1-1	TCEAL2	0.399250015	9.68E-08	Transcription regulatory protein	BrainSpLMD|140597	
EN-V1-1	ITPK1	0.865643927	1.02E-07	Enzyme: Phosphotransferase	BrainSpLMD|3705;Eurexp|euxassay_007834|dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, mesentery, midgut, trigeminal V, vagus X, vibrissa	OMIM|601838
EN-V1-1	TNRC6C	0.34620643	1.05E-07	RNA binding protein	BrainSpLMD|57690	OMIM|610741
EN-V1-1	NDUFA5	0.334880373	1.06E-07	Enzyme: Oxidoreductase	BrainSpLMD|4698	SFARI||Autism, 4 - Minimal evidence;OMIM|601677
EN-V1-1	ZNF682	0.764077096	1.14E-07	Transcription regulatory protein	BrainSpLMD|91120	
EN-V1-1	GNB4	0.853777939	1.15E-07	G protein	BrainSpLMD|59345;Eurexp|euxassay_006820|aortic valve, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, mitral valve, neural retina, pulmonary valve, thoracic, tricuspid valve, trigeminal V, vagus X, valve, ventral grey horn;BrainSpMouseDev|14472	OMIM|610863;HPO|59345|Autosomal dominant inheritance, Axonal regeneration, Distal sensory impairment, Hammertoe, Hyporeflexia, Onion bulb formation, Pes cavus, Slow progression, Steppage gait
EN-V1-1	FAM200B	0.737596621	1.16E-07	-		
EN-V1-1	RPL28	0.414588195	1.22E-07	Ribosomal subunit	BrainSpLMD|6158	OMIM|603638
EN-V1-1	MMP16	0.416927703	1.22E-07	Metallo protease	BrainSpLMD|4325;Eurexp|euxassay_002543|body-wall mesenchyme, cochlear duct, cranium, head mesenchyme, mandible, rib, vibrissa	OMIM|602262
EN-V1-1	RP11.436K8.1	0.709421599	1.31E-07			
EN-V1-1	NBEAL1	0.371552375	1.34E-07	Unclassified	BrainSpLMD|65065	OMIM|609816
EN-V1-1	RAB6A	0.270130532	1.44E-07	GTPase	BrainSpLMD|5870;Eurexp|euxassay_012532|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, molar, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|179513
EN-V1-1	B4GALNT1	0.316861835	1.46E-07	Enzyme: Synthase	BrainSpLMD|2583;Eurexp|euxassay_002539|brain, diencephalon, dorsal root ganglion, facial VII, foregut-midgut junction, glossopharyngeal IX, hindbrain, hindgut, incisor, mantle layer, marginal layer, midbrain, midgut, molar, neural retina, spinal cord, stomach, stroma, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|601873
EN-V1-1	TIMP2	0.350235634	1.48E-07	Extracellular matrix protein	BrainSpLMD|7077	OMIM|188825
EN-V1-1	NRSN1	0.49589874	1.51E-07	Integral membrane protein	BrainSpLMD|140767;Eurexp|euxassay_005168|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, nerve, olfactory lobe, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|616630
EN-V1-1	RP11.181B18.1	0.738023656	1.53E-07			
EN-V1-1	BICD1	0.519573278	1.54E-07	Transport/cargo protein	BrainSpLMD|636;Eurexp|euxassay_001764|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|11907	OMIM|602204
EN-V1-1	TUSC3	0.618980479	1.56E-07	Integral membrane protein	BrainSpLMD|7991;Eurexp|euxassay_012104|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, peripheral nervous system, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|601385;HPO|7991|Autosomal recessive inheritance, Intellectual disability
EN-V1-1	POT1.AS1	0.892816148	1.58E-07			
EN-V1-1	GABBR1	0.415652082	1.68E-07	G protein coupled receptor	BrainSpLMD|2550;Eurexp|euxassay_009799|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|33684	OMIM|603540
EN-V1-1	ZC3H6	0.759118218	1.69E-07	DNA binding protein	BrainSpLMD|376940	
EN-V1-1	RPS23	0.379639545	1.74E-07	Ribosomal subunit	BrainSpLMD|6228	OMIM|603683;HPO|6228|Abnormality of the pinna, Autistic behavior, Autosomal dominant inheritance, Cleft palate, Conductive hearing impairment, Depressed nasal bridge, Epicanthus, Flat occiput, Generalized hypotonia, High palate, Highly arched eyebrow, Increased number of teeth, Intellectual disability, mild, Long eyelashes, Low-set ears, Microcephaly, Motor delay, Short stature, Single transverse palmar crease, Thick eyebrow
EN-V1-1	DYNC2LI1	0.720082832	1.86E-07	Motor protein	BrainSpLMD|51626	OMIM|617083;HPO|51626|Abnormality of oral frenula, Abnormality of oral mucosa, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the fingernails, Abnormality of the heart valves, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Aplasia/Hypoplasia of the lungs, Atrial septal defect, Atrioventricular canal defect, Autosomal recessive inheritance, Brachydactyly, Capitate-hamate fusion, Cone-shaped epiphysis, Conical incisor, Cryptorchidism, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Epispadias, Failure to thrive, Foot polydactyly, Genu valgum, Hand polydactyly, Hepatomegaly, Horizontal ribs, Hypodontia, Hypoplastic toenails, Hypospadias, Intrauterine growth retardation, Low-set ears, Microdontia, Micromelia, Nail dysplasia, Narrow chest, Neonatal short-limb short stature, Polyhydramnios, Postaxial hand polydactyly, Respiratory insufficiency, Short distal phalanx of finger, Short foot, Short ribs, Short stature, Short thorax, Situs inversus totalis, Skeletal dysplasia, Splenomegaly, Strabismus, Ventricular septal defect
EN-V1-1	RAB9B	0.57509284	1.91E-07	GTPase	BrainSpLMD|51209	OMIM|300285
EN-V1-1	UBE2D1	1.059489645	1.97E-07	Ubiquitin proteasome system protein	BrainSpLMD|7321;Eurexp|euxassay_002231|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, urethra	OMIM|602961
EN-V1-1	ROCK2	0.289165898	2.01E-07	Serine/threonine kinase	BrainSpLMD|9475;BrainSpMouseDev|19641	OMIM|604002
EN-V1-1	RP11.676M6.1	0.277785185	2.04E-07			
EN-V1-1	DIXDC1	0.525826912	2.07E-07	Unclassified	BrainSpLMD|85458	SFARI||Autism, 4 - Minimal evidence;OMIM|610493
EN-V1-1	AMER3	0.502202662	2.07E-07	Unclassified	BrainSpLMD|205147	
EN-V1-1	WDR17	0.661865185	2.07E-07	Unclassified	BrainSpLMD|116966;Eurexp|euxassay_005530|brain, olfactory, spinal cord	OMIM|609005
EN-V1-1	EXOSC6	0.266403254	2.17E-07	Ribonuclease	BrainSpLMD|118460;Eurexp|euxassay_013513|submandibular gland primordium	OMIM|606490
EN-V1-1	KIAA0895L	0.447967656	2.19E-07	Unclassified		
EN-V1-1	PCDH17	0.635963908	2.38E-07	Adhesion molecule	BrainSpLMD|27253	OMIM|611760
EN-V1-1	STAU2	0.333144609	2.39E-07	RNA binding protein	BrainSpLMD|27067;Eurexp|euxassay_011484|cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605920
EN-V1-1	PKIA	0.775768707	2.47E-07	Enzyme regulator	BrainSpLMD|5569;Eurexp|euxassay_018045|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mesenchyme, neural retina, olfactory, spinal cord, stroma, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|606059
EN-V1-1	LINC00657	0.258023013	2.53E-07			
EN-V1-1	KPNA5	0.286803099	2.63E-07	Transport/cargo protein	BrainSpLMD|3841	OMIM|604545
EN-V1-1	LCLAT1	0.590686693	2.72E-07	Enzyme: Acyltransferase	BrainSpLMD|253558	OMIM|614241
EN-V1-1	ZNF124	0.46301997	2.81E-07	DNA binding protein	BrainSpLMD|7678	OMIM|194631
EN-V1-1	NEGR1	0.907264804	2.95E-07	Unclassified	BrainSpLMD|257194	OMIM|613173
EN-V1-1	NME7	0.295852787	3.04E-07	Enzyme: Phosphotransferase	BrainSpLMD|29922;Eurexp|euxassay_003414|4th ventricle, incisor, lung, metanephros, molar, olfactory, oral cavity, oral epithelium, oral region, pancreas, pharyngo-tympanic tube, respiratory, submandibular gland primordium, tongue, ventricular layer, vibrissa	OMIM|613465
EN-V1-1	FBXL2	0.625574878	3.24E-07	Ubiquitin proteasome system protein	BrainSpLMD|25827;Eurexp|euxassay_015900|dorsal root ganglion, glossopharyngeal IX, trigeminal V	OMIM|605652
EN-V1-1	SLC25A4	0.42454297	3.50E-07	Transport/cargo protein	BrainSpLMD|291	OMIM|103220;HPO|291|Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Congenital onset, Cytochrome C oxidase-negative muscle fibers, EMG: myopathic abnormalities, Exercise intolerance, Facial palsy, Generalized hypotonia, Generalized muscle weakness, Heterogeneous, Hypertrophic cardiomyopathy, Hyporeflexia, Lactic acidosis, Multiple mitochondrial DNA deletions, Myalgia, Myopathy, Myopia, Nystagmus, Progressive, Progressive external ophthalmoplegia, Ptosis, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Slow progression, Strabismus, Subsarcolemmal accumulations of abnormally shaped mitochondria
EN-V1-1	KLHL23	0.359095417	3.50E-07	Cytoskeletal associated protein	BrainSpLMD|151230;Eurexp|euxassay_008410|embryo	
EN-V1-1	ZNF284	0.681057818	3.51E-07	Transcription factor		
EN-V1-1	CISD1	0.479481947	3.65E-07	Unclassified	BrainSpLMD|55847;Eurexp|euxassay_003163|chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, lobe, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611932
EN-V1-1	MORN4	0.743231024	4.05E-07	Unclassified	BrainSpLMD|118812;Eurexp|euxassay_007046|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|617736
EN-V1-1	VASH2	0.401716579	4.10E-07	Unclassified	BrainSpLMD|79805	OMIM|610471
EN-V1-1	RP11.864N7.2	0.337344453	4.18E-07			
EN-V1-1	TTC9	0.936918885	4.20E-07	Unclassified		OMIM|610488
EN-V1-1	DSCAML1	0.251716967	4.68E-07	Adhesion molecule	BrainSpLMD|57453;Eurexp|euxassay_015851|dorsal grey horn, mantle layer, olfactory, vomeronasal organ;BrainSpMouseDev|77592	OMIM|611782
EN-V1-1	TMEM14B	0.306259873	4.87E-07	Integral membrane protein	BrainSpLMD|81853	
EN-V1-1	NMT2	0.538529742	4.92E-07	Enzyme: Transferase	BrainSpLMD|9397	OMIM|603801
EN-V1-1	LRRC37A3	0.665124967	5.03E-07	Unclassified	BrainSpLMD|374819	OMIM|616557
EN-V1-1	PRKCE	0.455612153	5.03E-07	Serine/threonine kinase	BrainSpLMD|5581;Eurexp|euxassay_009722|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, spinal cord, trigeminal V, vagus X	OMIM|176975
EN-V1-1	ICK	0.537356358	5.07E-07	Serine/threonine kinase	BrainSpLMD|22858	OMIM|612325;HPO|22858|Abnormality of the pinna, Adrenal hypoplasia, Ambiguous genitalia, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Barrel-shaped chest, Brachydactyly, Cleft palate, Cleft upper lip, Cryptorchidism, Depressed nasal tip, Holoprosencephaly, Hydrocephalus, Hypospadias, Low-set ears, Malar flattening, Micrognathia, Micromelia, Micropenis, Microphallus, Midface retrusion, Postaxial polydactyly, Sandal gap, Scrotal hypoplasia, Shield chest, Syndactyly, Ulnar deviation of the hand, Ventriculomegaly, Wide intermamillary distance, Wide nasal bridge
EN-V1-1	LRRC37A	0.436309032	5.38E-07	Unclassified		OMIM|616555
EN-V1-1	LCMT1	0.354200065	5.83E-07	Enzyme: Methyltransferase	BrainSpLMD|51451;Eurexp|euxassay_010513|mantle layer	OMIM|610286
EN-V1-1	SMIM13	0.816795519	5.85E-07			
EN-V1-1	KCNJ6	0.648569602	6.11E-07	Inward rectifier channel	BrainSpLMD|3763;BrainSpMouseDev|16295	OMIM|600877;HPO|3763|Abnormality of eye movement, Abnormality of the forehead, Absence of subcutaneous fat, Autosomal dominant inheritance, Congenital generalized lipodystrophy, Decreased testicular size, Dimple chin, Dyspnea, Failure to thrive, Flexion contracture, Generalized lipodystrophy, Gingival overgrowth, High palate, High, narrow palate, Hyperreflexia, Hypertonia, Intellectual disability, profound, Intellectual disability, severe, Large eyes, Loss of facial adipose tissue, Mask-like facies, Microcephaly, Micrognathia, Narrow naris, Narrow nasal bridge, Open mouth, Opisthotonus, Polyhydramnios, Postnatal growth retardation, Premature skin wrinkling, Progeroid facial appearance, Prominent nasal tip, Proptosis, Recurrent pneumonia, Respiratory insufficiency, Scoliosis, Severe global developmental delay, Shallow orbits, Short philtrum, Spastic tetraparesis, Tented upper lip vermilion, Underdeveloped nasal alae, Upper airway obstruction
EN-V1-1	TCTEX1D2	0.339769628	6.36E-07	Unclassified	BrainSpLMD|255758	OMIM|617353;HPO|255758|Autosomal recessive inheritance, Brachydactyly, Short stature
EN-V1-1	RP11.15J10.1	0.85861706	6.58E-07			
EN-V1-1	NAP1L3	0.294761601	6.65E-07	Unclassified	BrainSpLMD|4675;Eurexp|euxassay_002914|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|300117
EN-V1-1	EXOSC5	0.423983164	6.85E-07	Ribonuclease	BrainSpLMD|56915	OMIM|606492
EN-V1-1	KDM1B	0.763728293	6.86E-07	Unclassified		OMIM|613081
EN-V1-1	ZNF428	0.882690781	7.33E-07	DNA binding protein	BrainSpLMD|126299	
EN-V1-1	MAK	0.384286264	7.44E-07	Serine/threonine kinase	BrainSpLMD|4117	OMIM|154235;HPO|4117|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Visual field defect, Wide nasal bridge
EN-V1-1	ATOX1	0.618439136	7.49E-07	Chaperone	BrainSpLMD|475	OMIM|602270
EN-V1-1	ZNF585B	1.627220067	7.52E-07	DNA binding protein	BrainSpLMD|92285	
EN-V1-1	RALGPS2	0.847578827	7.59E-07	Guanine nucleotide exchange factor	BrainSpLMD|55103;Eurexp|euxassay_004996|bladder, brain, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, incisor, molar, rest of mesenchyme, retina, skeletal muscle, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	
EN-V1-1	ZNF781	0.582209199	7.78E-07	Transcription regulatory protein	BrainSpLMD|163115	
EN-V1-1	HERC3	0.66954835	7.84E-07	Ubiquitin proteasome system protein	BrainSpLMD|8916;Eurexp|euxassay_007296|Meckel's cartilage, brain, dorsal root ganglion, left lung, mesenchyme, oesophagus, otic capsule, pharyngo-tympanic tube, pituitary, right lung, spinal cord	OMIM|605200
EN-V1-1	CIPC	0.767296491	7.99E-07	Unclassified	BrainSpLMD|85457	OMIM|616995
EN-V1-1	SNHG8	0.654586701	8.13E-07			
EN-V1-1	RP11.806K15.1	0.39716564	8.29E-07			
EN-V1-1	GGH	0.714525529	8.30E-07	Enzyme: Hydrolase	BrainSpLMD|8836	OMIM|601509
EN-V1-1	YWHAH	0.309729234	8.36E-07	Adapter molecule	BrainSpLMD|7533;Eurexp|euxassay_007180|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|113508
EN-V1-1	ZNF585A	0.68218619	8.82E-07	Unclassified	BrainSpLMD|199704	
EN-V1-1	CLUAP1	0.300915656	9.27E-07	Unclassified	BrainSpLMD|23059;Eurexp|euxassay_012421|facial VII, olfactory, thymus primordium, trigeminal V	OMIM|616787
EN-V1-1	SH3GL3	0.545070368	1.03E-06	Unclassified	BrainSpLMD|6457	OMIM|603362
EN-V1-1	CELF3	0.34163567	1.07E-06	RNA binding protein	BrainSpLMD|11189;Eurexp|euxassay_009785|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, midgut, neural retina, oesophagus, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|612678
EN-V1-1	IPO7	0.437929936	1.08E-06	Transport/cargo protein	BrainSpLMD|10527	OMIM|605586
EN-V1-1	COX5A	0.393263447	1.15E-06	Regulatory/other subunit	BrainSpLMD|9377	OMIM|603773
EN-V1-1	EPHA5	0.361798186	1.22E-06	Receptor tyrosine kinase	BrainSpLMD|2044;Eurexp|euxassay_018953|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|13617	OMIM|600004
EN-V1-1	SLC25A46	0.603811621	1.31E-06	Transport/cargo protein	BrainSpLMD|91137;Eurexp|euxassay_000535|Meckel's cartilage, basisphenoid bone, central nervous system, dorsal root ganglion, ear, facial VII, facial bones primordia, glossopharyngeal IX, labyrinth, mandible, molar, nervous system, orbito-sphenoid, otic capsule, premaxilla, spinal cord, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII	OMIM|610826;HPO|91137|Anteverted nares, Autosomal recessive inheritance, Bulbous nose, Distal sensory impairment, Flexion contracture, Generalized hypotonia, Global developmental delay, Hyporeflexia, Inverted nipples, Muscular hypotonia, Narrow forehead, Narrow palate, Optic atrophy, Pes cavus, Progressive visual loss, Steppage gait, Tapered finger, Tented upper lip vermilion, Variable expressivity
EN-V1-1	FSTL5	0.933356572	1.45E-06	Extracellular matrix protein	BrainSpLMD|56884	
EN-V1-1	PHYHIPL	0.572020815	1.49E-06	Unclassified;Integral membrane protein	BrainSpLMD|84457;Eurexp|euxassay_002109|brain, dorsal root ganglion, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	
EN-V1-1	UBE2V2	0.361179207	1.52E-06	Ubiquitin proteasome system protein	BrainSpLMD|7336;Eurexp|euxassay_007283|embryo	OMIM|603001
EN-V1-1	KLHL7	0.319141066	1.55E-06	Unclassified	BrainSpLMD|55975;Eurexp|euxassay_011530|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611119;HPO|55975|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Pallor, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
EN-V1-1	B3GALNT1	0.905799177	1.60E-06	Enzyme: Galactosyltransferase	BrainSpLMD|8706;Eurexp|euxassay_003465|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn	OMIM|603094
EN-V1-1	C4orf3	0.526013472	1.64E-06	Integral membrane protein	BrainSpLMD|401152	
EN-V1-1	TTC14	0.410365181	1.64E-06	Unclassified	BrainSpLMD|151613	
EN-V1-1	ACYP1	0.431444634	1.66E-06	Enzyme: Phosphatase	BrainSpLMD|97	OMIM|600875
EN-V1-1	EML4	0.682981687	1.70E-06	Structural protein	BrainSpLMD|27436	OMIM|607442;COSMIC||NSCLC
EN-V1-1	CBLB	0.378855357	1.70E-06	Adapter molecule	BrainSpLMD|868;Eurexp|euxassay_012817|extrinsic ocular muscle, incisor, mantle layer, marginal layer, ventricular layer	OMIM|604491;COSMIC||AML
EN-V1-1	SLC38A6	0.414967872	1.70E-06	Membrane transport protein	BrainSpLMD|145389;Eurexp|euxassay_019724|metacarpus, phalanx	OMIM|616518
EN-V1-1	CAB39	0.460934313	1.74E-06	Calcium binding protein	BrainSpLMD|51719;Eurexp|euxassay_003762|clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612174
EN-V1-1	TTN	0.48797009	1.84E-06	Structural protein;Enzyme: Phosphotransferase	BrainSpLMD|7273;Eurexp|euxassay_012439|atrium, diaphragm, extrinsic ocular muscle, footplate, mesenchyme, rest of mesenchyme, skeletal muscle, tarsus, ventricle, vertebral axis muscle system	SFARI||Autism, 4 - Minimal evidence;OMIM|188840;HPO|7273|Adult onset, Arrhythmia, Autosomal dominant inheritance, Autosomal recessive inheritance, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Childhood onset, Congenital onset, Diaphragmatic weakness, Dilated cardiomyopathy, Distal muscle weakness, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Facial palsy, Flexion contracture, Foot dorsiflexor weakness, Generalized muscle weakness, Hypertrophic cardiomyopathy, Incomplete penetrance, Infantile onset, Motor delay, Muscular dystrophy, Myopathy, Neck flexor weakness, Proximal muscle weakness, Ptosis, Rimmed vacuoles, Scoliosis, Slow progression, Steppage gait, Sudden death
EN-V1-1	ST6GAL1	0.491999265	1.95E-06	Enzyme: Sialyltransferase	BrainSpLMD|6480	OMIM|109675
EN-V1-1	EED	0.549023216	2.00E-06	Transcription regulatory protein	BrainSpLMD|8726;Eurexp|euxassay_017307|excretory component, liver, lung, thymus primordium, turbinate bones, ventricular layer;BrainSpMouseDev|13404	OMIM|605984;COSMIC||malignant peripheral nerve sheath tumours, MDS and related, lung adenocarcinoma;HPO|8726|Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Accelerated skeletal maturation, Broad foot, Broad forehead, Broad thumb, Camptodactyly of finger, Deep philtrum, Deep-set nails, Feeding difficulties in infancy, Fine hair, Global developmental delay, Hoarse voice, Hypertelorism, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Joint stiffness, Large hands, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Micrognathia, Redundant skin, Retrognathia, Round face, Spasticity, Tall stature, Thin nail
EN-V1-1	MTMR7	0.400338899	2.02E-06	Tyrosine phosphatase	Eurexp|euxassay_003206|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, foregut-midgut junction, glossopharyngeal IX, hindbrain, hindgut, incisor, lung, mantle layer, marginal layer, midbrain, midgut, molar, nucleus pulposus, olfactory, pancreas, pituitary, rectum, spinal cord, stomach, stroma, thoracic, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|603562
EN-V1-1	SLC39A6	0.313563797	2.18E-06	Membrane transport protein	BrainSpLMD|25800	OMIM|608731
EN-V1-1	TSTD1	0.462512429	2.20E-06	Unclassified		OMIM|616041
EN-V1-1	C1GALT1	0.51951437	2.22E-06	Enzyme: Galactosyltransferase	BrainSpLMD|56913;Eurexp|euxassay_013628|bladder, lobe, lumen, lung, mandible, maxilla, orbito-sphenoid, stomach, thymus primordium, urethra, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|610555
EN-V1-1	NIPSNAP1	0.60070874	2.33E-06	Unclassified	BrainSpLMD|8508;Eurexp|euxassay_005226|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, liver, lung, metanephros, midgut, molar, spinal cord, stomach, submandibular gland primordium, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|603249
EN-V1-1	NAA38	0.681174727	2.41E-06	Unclassified	BrainSpLMD|84316	
EN-V1-1	FAM161A	0.521551216	2.45E-06	Unclassified	Eurexp|euxassay_013156|choroid invagination, choroid plexus, roof plate	OMIM|613596;HPO|84140|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
EN-V1-1	AGK	0.560042566	2.54E-06	Lipid Kinase	BrainSpLMD|55750;Eurexp|euxassay_001595|cervical, cervico-thoracic, dorsal root ganglion, thoracic	OMIM|610345;HPO|55750|3-Methylglutaconic aciduria, Autosomal recessive inheritance, Cataract, Congenital cataract, Easy fatigability, Exercise intolerance, Exercise-induced lactic acidemia, Fatigue, Generalized hypotonia, Glaucoma, Growth delay, Hypertrophic cardiomyopathy, Increased serum lactate, Infantile onset, Lactic acidosis, Mitochondrial myopathy, Motor delay, Muscle weakness, Myopathy, Myopia, Nystagmus, Respiratory insufficiency, Strabismus, Variable expressivity
EN-V1-1	AFTPH	0.427571361	2.59E-06	Unclassified	BrainSpLMD|54812	
EN-V1-1	GRIP1	0.513300481	2.65E-06	-	Eurexp|euxassay_013281|neural retina	SFARI||Autism, 2 - Strong candidate;OMIM|604597;HPO|23426|Abnormal cortical gyration, Abnormal heart morphology, Abnormality of the anus, Abnormality of the pinna, Abnormality of the small intestine, Abnormality of the thymus, Abnormality of the umbilicus, Absent eyebrow, Absent eyelashes, Ambiguous genitalia, Anal atresia, Anal stenosis, Anophthalmia, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb, Atresia of the external auditory canal, Autosomal recessive inheritance, Bicornuate uterus, Bifid tongue, Bilateral microphthalmos, Blindness, Calvarial skull defect, Choanal stenosis, Cleft ala nasi, Cleft palate, Cleft upper lip, Clitoral hypertrophy, Conductive hearing impairment, Corneal opacity, Cryptophthalmos, Cryptorchidism, Cupped ear, Cutaneous finger syndactyly, Dental crowding, Dental malocclusion, Depressed nasal bridge, Difficulty in tongue movements, Encephalocele, Extension of hair growth on temples to lateral eyebrow, External ear malformation, Facial cleft, Female pseudohermaphroditism, Finger syndactyly, Hydrocephalus, Hypertelorism, Hypoplasia of penis, Hypoplastic superior helix, Hypospadias, Intellectual disability, Lacrimal duct aplasia, Laryngeal atresia, Laryngeal stenosis, Laryngeal web, Low-set ears, Low-set, posteriorly rotated ears, Malformed lacrimal ducts, Microcephaly, Micropenis, Microphthalmia, Midline nasal groove, Morphological abnormality of the middle ear, Multicystic kidney dysplasia, Myelomeningocele, Pulmonary hypoplasia, Renal hypoplasia, Renal hypoplasia/aplasia, Scrotal hypoplasia, Severe T-cell immunodeficiency, Subglottic stenosis, Toe syndactyly, Underdeveloped nasal alae, Upper eyelid coloboma, Vaginal atresia, Wide intermamillary distance, Wide nasal bridge, Wide nose, Wide pubic symphysis
EN-V1-1	ZFP62	0.503045385	2.73E-06			OMIM|610281
EN-V1-1	RPGRIP1L	0.886154507	2.79E-06	Unclassified		OMIM|610937;HPO|23322|Abnormality of the corpus callosum, Abnormality of the urinary system, Anencephaly, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Bowing of the long bones, Brainstem dysplasia, Cataract, Central apnea, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cirrhosis, Cleft palate, Cleft upper lip, Coloboma, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Elevated hepatic transaminases, Encephalocele, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Heterogeneous, Hyperreflexia, Hypertelorism, Hypoplasia of the brainstem, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intrahepatic biliary atresia, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Multiple small medullary renal cysts, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nephropathy, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic nerve coloboma, Phenotypic variability, Portal hypertension, Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Ptosis, Renal cyst, Renal insufficiency, Retinal dystrophy, Round face, Sclerocornea, Scoliosis, Sloping forehead, Spasticity, Splenomegaly, Talipes, Visual impairment, Wide mouth
EN-V1-1	NPIPA1	0.264110191	2.92E-06	Unclassified		OMIM|606406
EN-V1-1	SERBP1	0.480547858	2.92E-06	RNA binding protein	BrainSpLMD|26135	OMIM|607378
EN-V1-1	USP3	0.430582036	2.93E-06	Ubiquitin proteasome system protein	BrainSpLMD|9960	OMIM|604728
EN-V1-1	XPO6	0.364943142	3.14E-06	Transport/cargo protein	BrainSpLMD|23214	OMIM|608411
EN-V1-1	GDAP1L1	0.27522958	3.17E-06	Integral membrane protein	BrainSpLMD|78997;Eurexp|euxassay_011524|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	
EN-V1-1	PEX3	0.363638026	3.22E-06	Integral membrane protein	BrainSpLMD|8504	OMIM|603164;HPO|8504|Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the liver, Abnormality of the palate, Anteverted nares, Areflexia, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, Broad forehead, Cataract, Chorioretinal abnormality, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Death in infancy, Decreased fetal movement, Depressed nasal bridge, Developmental regression, Dolichocephaly, Downslanted palpebral fissures, EEG abnormality, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Generalized neonatal hypotonia, Global developmental delay, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypertelorism, Hypospadias, Inverted nipples, Jaundice, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Muscular hypotonia, Nephrocalcinosis, Neurogenic bladder, Nyctalopia, Nystagmus, Optic atrophy, Polymicrogyria, Posterior embryotoxon, Posteriorly rotated ears, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Prolonged neonatal jaundice, Prominent epicanthal folds, Prominent nose, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Respiratory insufficiency, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Skeletal dysplasia, Spastic paraplegia, Spasticity, Strabismus, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
EN-V1-1	IRF2BP2	0.599261279	3.24E-06	Transcription regulatory protein	BrainSpLMD|359948	OMIM|615332
EN-V1-1	MAN1A2	0.257755258	3.32E-06	Enzyme: Hydrolase	BrainSpLMD|10905	OMIM|604345
EN-V1-1	FAM8A1	0.54510137	3.53E-06	Integral membrane protein	BrainSpLMD|51439	
EN-V1-1	FAM124A	0.283839567	3.68E-06	Unclassified	BrainSpLMD|220108	
EN-V1-1	CNKSR2	0.543042009	4.05E-06	Unclassified	BrainSpLMD|22866	SFARI||Autism, 3 - Suggestive evidence;OMIM|300724;HPO|22866|Intellectual disability
EN-V1-1	RPL5P34	0.307799445	4.06E-06			
EN-V1-1	ZNF883	0.281026511	4.27E-06	Unclassified		
EN-V1-1	EIF4E	0.262131496	4.47E-06	Translation regulatory protein	BrainSpLMD|1977	SFARI||Autism, 4 - Minimal evidence;OMIM|133440
EN-V1-1	EPS15	0.689999681	4.52E-06	Calcium binding protein	BrainSpLMD|2060;Eurexp|euxassay_005655|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|600051;COSMIC||ALL
EN-V1-1	TRDMT1	0.65705843	4.69E-06	DNA methyltransferase	BrainSpLMD|1787;BrainSpMouseDev|13213	OMIM|602478
EN-V1-1	COQ7	0.429070058	4.70E-06	Unclassified	BrainSpLMD|10229	OMIM|601683;HPO|10229|Abnormal renal corticomedullary differentiation, Autosomal recessive inheritance, Congenital onset, Elevated serum creatinine, Feeding difficulties, Flexion contracture, Generalized hypotonia, Global developmental delay, Hearing impairment, Intrauterine growth retardation, Motor delay, Muscle weakness, Muscular hypotonia, Oligohydramnios, Pain, Peripheral demyelination, Polyneuropathy, Postnatal growth retardation, Pulmonary hypoplasia, Renal dysplasia, Respiratory distress, Small for gestational age, Visual impairment
EN-V1-1	MICU3	0.424114454	4.87E-06	Unclassified	BrainSpLMD|286097	OMIM|610633
EN-V1-1	PRKY	0.583065994	4.91E-06	Serine/threonine kinase	BrainSpLMD|5616	OMIM|400008
EN-V1-1	DZIP3	0.30158064	5.06E-06	Ubiquitin proteasome system protein	BrainSpLMD|9666	OMIM|608672
EN-V1-1	COPS8	0.362834575	5.07E-06	Regulatory/other subunit	BrainSpLMD|10920	OMIM|616011
EN-V1-1	MGA	0.351631607	5.20E-06	Transcription regulatory protein	BrainSpMouseDev|29543	OMIM|616061
EN-V1-1	CCNH	0.459235441	5.31E-06	Transcription regulatory protein	BrainSpLMD|902;Eurexp|euxassay_000265|cranium	OMIM|601953
EN-V1-1	RPL24P8	0.300619746	5.43E-06			
EN-V1-1	AC011043.1	0.706781879	5.54E-06			
EN-V1-1	TANK	0.409906428	5.82E-06	Adapter molecule	BrainSpLMD|10010;Eurexp|euxassay_010622|mandible, maxilla, submandibular gland primordium	OMIM|603893
EN-V1-1	NRXN2	0.262722872	5.90E-06	Cell surface receptor	BrainSpLMD|9379	SFARI||Autism, 4 - Minimal evidence;OMIM|600566
EN-V1-1	VPS26A	0.374939057	5.91E-06	Transport/cargo protein	BrainSpLMD|9559	OMIM|605506
EN-V1-1	HSPA13	0.417895071	5.93E-06	Chaperone	BrainSpLMD|6782	OMIM|601100
EN-V1-1	MPP6	0.672186156	6.47E-06	Unclassified	BrainSpLMD|51678	SFARI||Autism, No category;OMIM|606959
EN-V1-1	GTF2B	0.26052134	6.49E-06	Transcription factor	BrainSpLMD|2959;Eurexp|euxassay_008180|testis	OMIM|189963
EN-V1-1	EIF4EBP1	0.405682389	6.61E-06	Translation regulatory protein	BrainSpLMD|1978;Eurexp|euxassay_004855|skeletal muscle, vertebral axis muscle system	OMIM|602223
EN-V1-1	ZNF135	0.639853385	6.63E-06	Transcription regulatory protein	BrainSpLMD|7694	OMIM|604077
EN-V1-1	SRSF8	0.4787516	6.75E-06	Transcription regulatory protein		OMIM|603269
EN-V1-1	TOMM22	0.281188429	6.89E-06	Membrane transport protein	BrainSpLMD|56993	OMIM|607046
EN-V1-1	TMEM175	0.504388903	7.21E-06	Unclassified	BrainSpLMD|84286	OMIM|616660
EN-V1-1	SLC4A8	0.294299272	7.69E-06	Membrane transport protein	BrainSpLMD|9498;Eurexp|euxassay_002110|adrenal gland, brain, calyces, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, pelvis, spinal cord, stroma, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|605024
EN-V1-1	IGBP1	0.285176647	7.71E-06	Unclassified	BrainSpLMD|3476;Eurexp|euxassay_015599|embryo	OMIM|300139;HPO|3476|Agenesis of corpus callosum, Broad neck, Choanal atresia, Cleft palate, Cupped ear, Downslanted palpebral fissures, High forehead, High palate, Intellectual disability, Iris coloboma, Low-set ears, Macrocephaly, Nystagmus, Optic nerve coloboma, Patent ductus arteriosus, Pectus excavatum, Prominent nasal bridge, Retrognathia, Scoliosis, Sensorineural hearing impairment, Short neck, Short stature, Ventricular septal defect, Visual impairment, X-linked recessive inheritance
EN-V1-1	AC079250.1	0.419075533	8.13E-06			
EN-V1-1	UNC80	0.850299549	8.29E-06	Unclassified	BrainSpLMD|285175	SFARI||Autism, 4 - Minimal evidence;OMIM|612636;HPO|285175|Anteverted nares, Autosomal recessive inheritance, Brachycephaly, Broad forehead, Bulbous nose, Constipation, Epicanthus, Failure to thrive in infancy, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global brain atrophy, High forehead, Intellectual disability, profound, Low-set ears, Nystagmus, Open mouth, Osteopenia, Plagiocephaly, Posteriorly rotated ears, Profound static encephalopathy, Prominent forehead, Prominent nasal bridge, Prominent nose, Ptosis, Short neck, Short philtrum, Smooth philtrum, Spasticity, Tapered finger, Thin upper lip vermilion, Triangular face
EN-V1-1	RUSC1	0.315431728	8.37E-06	Adapter molecule	BrainSpLMD|23623;Eurexp|euxassay_007022|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|617318
EN-V1-1	MAP1A	0.538129846	8.72E-06	Cytoskeletal associated protein	BrainSpLMD|4130	OMIM|600178
EN-V1-1	C12orf10	0.601388341	8.90E-06	Unclassified	BrainSpLMD|60314	OMIM|611366
EN-V1-1	BAI3	0.473356721	9.59E-06			
EN-V1-1	MAGEH1	0.563058722	9.96E-06	Cell cycle control protein	BrainSpLMD|28986;Eurexp|euxassay_005123|adenohypophysis, brain, cervical, cervico-thoracic, glossopharyngeal IX, mandible, maxilla, olfactory, respiratory, retina, spinal cord, sternum, tail, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|300548
EN-V1-1	PAPOLG	0.421326175	1.12E-05	RNA polymerase	BrainSpLMD|64895	OMIM|616865
EN-V1-1	SBK1	0.343642506	1.12E-05	Serine/threonine kinase		
EN-V1-1	FAM172A	0.463841882	1.13E-05	Unclassified	BrainSpLMD|83989;Eurexp|euxassay_010283|ventricular layer	
EN-V1-1	KIAA1586	0.346542052	1.18E-05	Unclassified	BrainSpLMD|57691	SFARI||Autism, 3 - Suggestive evidence
EN-V1-1	OSBPL6	0.502660189	1.19E-05	Transport/cargo protein	BrainSpLMD|114880;Eurexp|euxassay_000065|adrenal gland, cerebral cortex, dorsal root ganglion, epithelium, excretory component, facial VII, glossopharyngeal IX, hypothalamus, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lateral wall, nasal cavity, neural retina, oesophagus, olfactory lobe, pituitary, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|606734
EN-V1-1	ABR	0.55015149	1.22E-05	GTPase activating protein	BrainSpLMD|29;Eurexp|euxassay_008421|brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, mesenchyme, mesothelium, midgut, naso-lacrimal duct, olfactory, peritoneal cavity, rib, right lung, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|600365
EN-V1-1	TTL	0.48737959	1.27E-05	Enzyme: Ligase	BrainSpLMD|150465;Eurexp|euxassay_003613|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, ventral grey horn	OMIM|608291
EN-V1-1	TXNDC17	0.609032941	1.28E-05	Enzyme: Oxidoreductase	BrainSpLMD|84817	OMIM|616967
EN-V1-1	AC000089.3	0.273259158	1.28E-05			
EN-V1-1	RALGAPA1P	0.623887149	1.31E-05			
EN-V1-1	RNU6.957P	0.298773846	1.38E-05			
EN-V1-1	DROSHA	0.255056087	1.47E-05	Ribonuclease	BrainSpLMD|29102;Eurexp|euxassay_018939|incisor, lung, metanephros, molar, submandibular gland primordium, vibrissa	OMIM|608828;COSMIC||Wilms tumour, NSCLC, bladder carcinoma
EN-V1-1	ANKMY2	0.872980798	1.53E-05	Unclassified	BrainSpLMD|57037;Eurexp|euxassay_006735|brain, dorsal root ganglion, spinal cord, trigeminal V	
EN-V1-1	NTPCR	0.36617262	1.71E-05	ATPase	BrainSpLMD|84284	
EN-V1-1	RAB11FIP4	0.597404387	1.77E-05	Membrane transport protein	BrainSpLMD|84440;Eurexp|euxassay_009634|Meckel's cartilage, axial skeleton, basisphenoid bone, clavicle, cricoid, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, forebrain, glossopharyngeal IX, hindbrain, hip, humerus, mandible, metatarsus, midbrain, nasal septum, neural retina, orbito-sphenoid, otic capsule, petrous part, radius, rib, scapula, spinal cord, tarsus, thymus primordium, thyroid, tibia, trigeminal V, turbinate, vagus X	OMIM|611999
EN-V1-1	NDRG3	0.326048318	1.79E-05	Unclassified;Cell cycle control protein	BrainSpLMD|57446	OMIM|605273
EN-V1-1	ADAM19	0.453379386	1.80E-05	Metallo protease	BrainSpLMD|8728;Eurexp|euxassay_002478|bladder, mantle layer;BrainSpMouseDev|11280	OMIM|603640
EN-V1-1	RAC1	0.299716264	1.84E-05	GTPase	BrainSpLMD|5879;BrainSpMouseDev|19116	OMIM|602048;COSMIC||melanoma, carcinoma
EN-V1-1	MIEN1	0.312308866	1.84E-05	Unclassified	BrainSpLMD|84299;Eurexp|euxassay_001703|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|611802
EN-V1-1	KPNA4	0.344482585	1.91E-05	Transport/cargo protein	BrainSpLMD|3840	OMIM|602970
EN-V1-1	CRK	0.328844304	1.93E-05	Adapter molecule	BrainSpLMD|1398	OMIM|164762
EN-V1-1	DHX29	0.499497982	1.95E-05	RNA helicase	BrainSpLMD|54505	OMIM|612720
EN-V1-1	FBN3	0.263142681	1.99E-05	Calcium binding protein	BrainSpLMD|84467	OMIM|608529
EN-V1-1	MAP2K4	0.446113741	2.07E-05	Dual specificity kinase	BrainSpLMD|6416;Eurexp|euxassay_018797|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|601335;COSMIC||pancreatic, breast, colorectal
EN-V1-1	TNKS	0.375438425	2.11E-05	Enzyme: Ribosyltransferase	BrainSpLMD|8658;Eurexp|euxassay_015951|dorsal grey horn, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, ventral grey horn	OMIM|603303
EN-V1-1	PNMAL1	0.386519195	2.21E-05			
EN-V1-1	DNM1	0.392232639	2.23E-05	GTPase	BrainSpLMD|1759	OMIM|602377;HPO|1759|Abnormality of brainstem morphology, Absent speech, Aggressive behavior, Atonic seizures, Atypical absence seizures, Autistic behavior, Autosomal dominant inheritance, Developmental regression, Difficulty walking, EEG with focal sharp slow waves, Encephalopathy, Epileptic encephalopathy, Falls, Generalized hypotonia, Generalized tonic seizures, Generalized tonic-clonic seizures, Hyperactivity, Inability to walk, Intellectual disability, Mental deterioration, Myoclonus, Personality disorder, Seizures
EN-V1-1	SCAI	0.448419171	2.26E-05	Unclassified	BrainSpLMD|286205;Eurexp|euxassay_018813|olfactory	
EN-V1-1	DTX4	0.598405078	2.37E-05	Ubiquitin proteasome system protein	Eurexp|euxassay_015898|floor plate, floorplate, ventricular layer;BrainSpMouseDev|83873	OMIM|616110
EN-V1-1	CCT8P1	0.530639578	2.42E-05			
EN-V1-1	LRRC1	0.702751554	2.45E-05	Unclassified	BrainSpLMD|55227	SFARI||Autism, 4 - Minimal evidence;OMIM|608195
EN-V1-1	FAXC	0.597699857	2.57E-05	Unclassified	BrainSpLMD|84553	
EN-V1-1	TUB	0.300708852	2.61E-05	Transcription regulatory protein	BrainSpLMD|7275	OMIM|601197;HPO|7275|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Astigmatism, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Myopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal dystrophy, Sensorineural hearing impairment, Visual impairment, Wide nasal bridge
EN-V1-1	POLE3	0.499940782	2.72E-05	DNA binding protein	BrainSpLMD|54107	OMIM|607267
EN-V1-1	SSX2IP	0.286206455	2.92E-05	Adhesion molecule	BrainSpLMD|117178	OMIM|608690
EN-V1-1	KLHDC10	0.658679386	3.00E-05	Unclassified	BrainSpLMD|23008	OMIM|615152
EN-V1-1	PRKAA2	0.686449508	3.05E-05	Serine/threonine kinase	BrainSpLMD|5563;Eurexp|euxassay_006001|left lung, right lung, ventricle	OMIM|600497
EN-V1-1	KBTBD6	0.267914562	3.31E-05	Unclassified	BrainSpLMD|89890	OMIM|617738
EN-V1-1	U2SURP	0.263933914	3.43E-05			
EN-V1-1	TSNAX	0.366329888	3.49E-05	Transport/cargo protein	BrainSpLMD|7257;Eurexp|euxassay_004475|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	OMIM|602964
EN-V1-1	ACTR3B	0.671144301	3.51E-05	Cytoskeletal associated protein	BrainSpLMD|57180;Eurexp|euxassay_004135|olfactory lobe, ventricular layer	
EN-V1-1	UGCG	0.275467993	3.52E-05	Enzyme: Glycosyltransferase	BrainSpLMD|7357	OMIM|602874
EN-V1-1	PDIK1L	0.555610104	3.60E-05	Serine/threonine kinase	BrainSpLMD|149420	OMIM|610785
EN-V1-1	PPP3R1	0.494112767	3.61E-05	Regulatory/other subunit		OMIM|601302
EN-V1-1	KIAA0100	0.778403264	3.63E-05	Unclassified	BrainSpLMD|9703;Eurexp|euxassay_007134|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, medulla, midgut, neural retina, oesophagus, olfactory, penis, respiratory, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610664
EN-V1-1	PHF3	0.260826053	3.68E-05	Transcription factor	BrainSpLMD|23469	SFARI||Autism, 2 - Strong candidate;OMIM|607789
EN-V1-1	PYGB	0.436768319	3.93E-05	Enzyme: Phosphorylase	BrainSpLMD|5834	OMIM|138550
EN-V1-1	ANP32A	0.270771156	4.05E-05	MHC complex protein	BrainSpLMD|8125;Eurexp|euxassay_005670|embryo	OMIM|600832
EN-V1-1	TTC3P1	0.453762891	4.09E-05			
EN-V1-1	RP11.1114A5.4	0.259018578	4.10E-05			
EN-V1-1	C12orf76	0.49912528	4.13E-05	Unclassified	BrainSpLMD|400073	
EN-V1-1	RP11.244J10.1	0.286936102	4.22E-05			
EN-V1-1	ATXN1	0.307740323	4.27E-05	RNA binding protein	BrainSpLMD|6310;BrainSpMouseDev|20001	OMIM|601556;HPO|6310|Abnormality of extrapyramidal motor function, Adult onset, Areflexia, Autosomal dominant inheritance, Babinski sign, Bulbar palsy, Chorea, Cognitive impairment, Dilated fourth ventricle, Distal amyotrophy, Dorsal column degeneration, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Dysphagia, Gaze-evoked nystagmus, Generalized hypotonia, Genetic anticipation with paternal anticipation bias, Hyperreflexia, Impaired horizontal smooth pursuit, Impaired vibratory sensation, Limb ataxia, Olivopontocerebellar atrophy, Optic atrophy, Optic disc pallor, Progressive cerebellar ataxia, Scanning speech, Slow saccadic eye movements, Spasticity, Spinocerebellar atrophy, Spinocerebellar tract degeneration, Supranuclear ophthalmoplegia, Truncal ataxia, Urinary bladder sphincter dysfunction
EN-V1-1	LAMTOR3	0.530408069	4.30E-05	Adapter molecule	BrainSpLMD|8649	OMIM|603296
EN-V1-1	PTPRA	0.397665792	4.33E-05	Receptor tyrosine phosphatase	BrainSpLMD|5786;Eurexp|euxassay_007474|embryo	OMIM|176884
EN-V1-1	CDK19	0.445041036	4.33E-05	Serine/threonine kinase	BrainSpLMD|23097	OMIM|614720
EN-V1-1	CSGALNACT2	0.344995848	4.37E-05	Enzyme: Galactosyltransferase	BrainSpLMD|55454	OMIM|616616
EN-V1-1	KCTD15	0.39572103	4.54E-05	Ion channel	BrainSpLMD|79047	OMIM|615240
EN-V1-1	PPP1R7	0.495099241	4.55E-05	Serine/threonine phosphatase	BrainSpLMD|5510	OMIM|602877
EN-V1-1	UCHL5	0.643003177	4.57E-05	Ubiquitin proteasome system protein	BrainSpLMD|51377;Eurexp|euxassay_011648|cortex, fundus region, incisor, lobe, lung, mandible, midgut, molar, naris, olfactory, orbito-sphenoid, pancreas, rectum, stomach, sublingual gland primordium, submandibular gland primordium, testis, thymus primordium, urethra, ventricular layer, vibrissa, vomeronasal organ	OMIM|610667
EN-V1-1	ZCCHC7	0.643814388	4.58E-05	DNA binding protein	BrainSpLMD|84186;Eurexp|euxassay_017848|mantle layer	
EN-V1-1	TRMT13	0.293238597	4.63E-05	Unclassified	BrainSpLMD|54482	
EN-V1-1	NDN	0.468145154	4.77E-05	DNA binding protein	BrainSpLMD|4692;Eurexp|euxassay_018587|clavicle, epithelium, floor plate, floorplate, lens, mandible, oesophagus, orbito-sphenoid	OMIM|602117;HPO|4692|Abdominal obesity, Almond-shaped palpebral fissure, Attention deficit hyperactivity disorder, Clinodactyly, Clitoral hypoplasia, Cutaneous photosensitivity, Decreased fetal movement, Decreased muscle mass, Delayed puberty, Delayed speech and language development, Dolichocephaly, Downturned corners of mouth, Failure to thrive in infancy, Generalized hypopigmentation, Generalized hypotonia, Global developmental delay, Growth hormone deficiency, Hyperinsulinemia, Hypermetropia, Hypogonadotrophic hypogonadism, Hypoplastic labia minora, Hypoventilation, Impaired pain sensation, Infertility, Kyphosis, Micropenis, Motor delay, Narrow forehead, Narrow nasal bridge, Narrow palm, Nasal speech, Obesity, Oligomenorrhea, Polyphagia, Poor gross motor coordination, Poor suck, Recurrent respiratory infections, Scoliosis, Short foot, Short palm, Short stature, Sleep apnea, Small hand, Specific learning disability, Sporadic, Thin upper lip vermilion, Ventriculomegaly
EN-V1-1	CXorf23	0.340332025	4.86E-05			
EN-V1-1	RNF187	0.277156926	5.11E-05	Unclassified		OMIM|613754
EN-V1-1	CHGB	0.378103103	5.15E-05	Secreted polypeptide	BrainSpLMD|1114;Eurexp|euxassay_007010|brain, cervical, cervico-thoracic, facial VII, glossopharyngeal IX, medulla, midgut, neural retina, pancreas, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|118920
EN-V1-1	SERINC3	0.282939591	5.41E-05	Integral membrane protein	BrainSpLMD|10955;Eurexp|euxassay_004869|dorsal root ganglion, facial VII, glossopharyngeal IX, left, mandible, maxilla, medulla, orbito-sphenoid, right, testis, thymus primordium, trigeminal V	OMIM|607165
EN-V1-1	C14orf169	0.657876067	5.42E-05			
EN-V1-1	NAPG	0.520976609	5.44E-05	Membrane transport protein	BrainSpLMD|8774	OMIM|603216
EN-V1-1	DCTN3	0.605146813	5.60E-05	Cell cycle control protein	BrainSpLMD|11258	OMIM|607387
EN-V1-1	SPCS3	0.525805742	5.68E-05	Protease	BrainSpLMD|60559	
EN-V1-1	NIPSNAP3A	0.747405865	5.72E-05	Transport/cargo protein	BrainSpLMD|25934	OMIM|608871
EN-V1-1	WARS	0.552142024	5.79E-05	Enzyme: Ligase	BrainSpLMD|7453	OMIM|191050
EN-V1-1	FLRT2	0.368989379	5.88E-05	Adhesion molecule	BrainSpLMD|23768	OMIM|604807
EN-V1-1	LMTK2	0.638607395	5.98E-05	Dual specificity kinase	BrainSpLMD|22853;Eurexp|euxassay_018856|marginal layer, pancreas;BrainSpMouseDev|87332	OMIM|610989
EN-V1-1	FAM204A	0.472235849	6.06E-05	Unclassified	BrainSpLMD|63877;Eurexp|euxassay_007076|embryo	
EN-V1-1	ZMYND11	0.265371552	6.37E-05	Transcription regulatory protein	BrainSpLMD|10771	SFARI||Autism, 3 - Suggestive evidence;OMIM|608668;HPO|10771|Abnormal facial shape, Aggressive behavior, Autosomal dominant inheritance, Delayed speech and language development, Global developmental delay, Hypertelorism, Intellectual disability, Intellectual disability, mild, Ptosis, Wide mouth
EN-V1-1	ADCYAP1R1	0.439084181	6.40E-05	G protein coupled receptor	BrainSpLMD|117;Eurexp|euxassay_009317|brain, cervical, cervico-thoracic, medulla, mesenchyme, midgut, oesophagus, spinal cord, stomach, thoracic, tongue, trigeminal V, ventricle, ventricular layer;BrainSpMouseDev|11304	OMIM|102981
EN-V1-1	ZFP14	0.467811348	6.52E-05	DNA binding protein	Eurexp|euxassay_006835|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	
EN-V1-1	FAM222B	0.365306464	6.69E-05	Unclassified	BrainSpLMD|55731	
EN-V1-1	DNASE1	0.493490763	6.99E-05	Deoxyribonuclease	BrainSpLMD|1773	OMIM|125505
EN-V1-1	HCFC1R1	0.34862347	7.15E-05	Transport/cargo protein	BrainSpLMD|54985;Eurexp|euxassay_013570|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, vagus X, ventral grey horn	
EN-V1-1	LEO1	0.268418537	7.43E-05	Unclassified	BrainSpLMD|123169	OMIM|610507
EN-V1-1	FAM120B	0.251997087	7.46E-05	Unclassified	BrainSpLMD|84498	OMIM|612266
EN-V1-1	SLC36A4	0.637255389	7.60E-05	Membrane transport protein	BrainSpLMD|120103	OMIM|613760
EN-V1-1	ATAD1	0.49656362	8.04E-05	ATPase	BrainSpLMD|84896;Eurexp|euxassay_001713|brain, cervico-thoracic, cortex, dorsal root ganglion, glossopharyngeal IX, spinal cord, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614452
EN-V1-1	GOLT1B	0.477663084	8.18E-05	Unclassified	BrainSpLMD|51026;Eurexp|euxassay_004588|orbito-sphenoid	OMIM|615078
EN-V1-1	FGD4	0.281817165	8.38E-05	Guanine nucleotide exchange factor	BrainSpLMD|121512;Eurexp|euxassay_009166|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, handplate, neural retina, olfactory, pancreas, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|611104;HPO|121512|Areflexia, Autosomal recessive inheritance, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal sensory impairment, Heterogeneous, Hyporeflexia, Infantile onset, Motor delay, Onion bulb formation, Peripheral demyelination, Pes cavus, Scoliosis, Talipes equinovarus, Upper limb muscle weakness, Waddling gait
EN-V1-1	VPS13A	0.56759038	8.52E-05	Transport/cargo protein	BrainSpLMD|23230;Eurexp|euxassay_008591|thymus primordium	OMIM|605978;HPO|23230|Abnormal bleeding, Abnormal urinary color, Abnormality of vision, Acanthocytosis, Aggressive behavior, Anxiety, Areflexia, Ataxia, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Caudate atrophy, Cerebral cortical atrophy, Chorea, Death in early adulthood, Developmental regression, Difficulty in tongue movements, Disinhibition, Distal upper limb muscle weakness, Drooling, Dysarthria, Dysgraphia, Dysphagia, Dystonia, EMG abnormality, Elevated serum creatine phosphokinase, Fatigue, Gait disturbance, Hyporeflexia, Limb muscle weakness, Memory impairment, Mood changes, Muscle fiber atrophy, Muscular hypotonia, Myopathy, Orofacial dyskinesia, Pallor, Parkinsonism, Peripheral neuropathy, Personality changes, Pes cavus, Progressive, Progressive choreoathetosis, Progressive distal muscular atrophy, Protruding tongue, Psychosis, Seizures, Self-mutilation of tongue and lips due to involuntary movements, Sensory neuropathy, Skeletal muscle atrophy, Tics, Tremor, Ventriculomegaly
EN-V1-1	ATMIN	0.537450485	8.53E-05	DNA binding protein	BrainSpLMD|23300	OMIM|614693
EN-V1-1	AGPAT1	0.443720343	8.82E-05	Enzyme: Acyltransferase	BrainSpLMD|10554	OMIM|603099
EN-V1-1	SEC61A2	0.448728976	9.00E-05	Integral membrane protein	BrainSpLMD|55176	
EN-V1-1	ETV1	0.568014824	9.06E-05	Transcription factor	BrainSpLMD|2115;BrainSpMouseDev|13786	OMIM|600541;COSMIC||Ewing sarcoma, prostate
EN-V1-1	NIFK	0.281127204	0.000103089	RNA binding protein	BrainSpLMD|84365	OMIM|611970
EN-V1-1	EPB41L4A.AS1	0.566129699	0.000106698			
EN-V1-1	CCDC91	0.607417834	0.000107026	Unclassified	BrainSpLMD|55297;Eurexp|euxassay_012418|vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|617366
EN-V1-1	ANKRD46	0.549232518	0.000107262	Integral membrane protein	BrainSpLMD|157567;Eurexp|euxassay_007253|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	
EN-V1-1	C16orf45	0.443372348	0.000110076	Unclassified	BrainSpLMD|89927;Eurexp|euxassay_002917|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, penis, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
EN-V1-1	YIPF4	0.30496648	0.000113215	Unclassified	BrainSpLMD|84272	OMIM|617534
EN-V1-1	ARL10	0.324380998	0.000116305	GTPase	BrainSpLMD|285598;BrainSpMouseDev|36074	
EN-V1-1	FAM217B	0.362456767	0.000119204	Unclassified	BrainSpLMD|63939	
EN-V1-1	ARFGAP3	0.358734089	0.000119845	GTPase activating protein	BrainSpLMD|26286	OMIM|612439
EN-V1-1	PSMD1	0.413610906	0.000122517	Ubiquitin proteasome system protein	BrainSpLMD|5707;Eurexp|euxassay_016545|dorsal root ganglion, lung, mantle layer, olfactory, thymus primordium, ventral grey horn	
EN-V1-1	PTPN1	0.847336979	0.000125716	Tyrosine phosphatase	BrainSpLMD|5770	OMIM|176885
EN-V1-1	NEO1	0.521716057	0.000127287	Cell surface receptor	BrainSpLMD|4756;Eurexp|euxassay_018461|axial skeleton, diaphragm, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lung, mandible, mantle layer, marginal layer, maxilla, nasal septum, pericardial cavity, turbinate bones, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|17774	SFARI||Autism, 4 - Minimal evidence;OMIM|601907
EN-V1-1	FKTN	0.346594637	0.000129204	Unclassified	BrainSpLMD|2218	OMIM|607440;HPO|2218|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Abnormality of the voice, Absent septum pellucidum, Agenesis of corpus callosum, Anal atresia, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Atresia of the external auditory canal, Atrial septal defect, Autosomal recessive inheritance, Blindness, Brachycephaly, Buphthalmos, Calf muscle hypertrophy, Camptodactyly of finger, Cataract, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Chorioretinal dysplasia, Cleft palate, Cleft upper lip, Cognitive impairment, Coloboma, Congenital contracture, Congenital muscular dystrophy, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Delayed speech and language development, Dilated cardiomyopathy, EEG abnormality, EMG abnormality, Elevated serum creatine phosphokinase, Encephalocele, Excessive daytime sleepiness, Flexion contracture, Gait disturbance, Generalized hypotonia, Glaucoma, Global developmental delay, Gowers sign, Heterogeneous, Hydrocephalus, Hyperlordosis, Hypermetropia, Hypertonia, Hypoglycosylation of alpha-dystroglycan, Hypoplasia of penis, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the pyramidal tract, Hypoplastic male external genitalia, Hyporeflexia, Infantile onset, Intellectual disability, Intellectual disability, profound, Intellectual disability, severe, Lissencephaly, Macrocephaly, Macrogyria, Mask-like facies, Megalocornea, Meningoencephalocele, Metatarsus valgus, Microcephaly, Microphthalmia, Microtia, Motor delay, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Myocardial fibrosis, Myopathy, Myopia, Neurological speech impairment, Occipital encephalocele, Optic atrophy, Optic nerve hypoplasia, Pachygyria, Pectus excavatum, Peters anomaly, Phenotypic variability, Plagiocephaly, Polymicrogyria, Posterior fossa cyst, Progressive, Proximal muscle weakness, Pulmonic stenosis, Renal dysplasia, Respiratory insufficiency, Retinal atrophy, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Scoliosis, Seizures, Severe muscular hypotonia, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Specific learning disability, Spinal rigidity, Strabismus, Thick cerebral cortex, Transposition of the great arteries, Type II lissencephaly, Variable expressivity, Ventriculomegaly, Visual impairment, Weak cry
EN-V1-1	MICU2	0.318845539	0.000130639	Serine/threonine kinase	BrainSpLMD|221154	OMIM|610632
EN-V1-1	MRPS27	0.458630744	0.000133564	Ribosomal subunit	BrainSpLMD|23107;Eurexp|euxassay_019261|adrenal gland, axial muscle, cervical, cervico-thoracic, dorsal root ganglion, embryo, facial VII, glossopharyngeal IX, incisor, liver, lung, mantle layer, marginal layer, metanephros, midgut, molar, neural retina, olfactory, pancreas, pharyngo-tympanic tube, pituitary, stomach, submandibular gland primordium, testis, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|611989
EN-V1-1	RPS2P46	0.392343398	0.000138068			
EN-V1-1	TXNDC15	0.281542559	0.000150713	Unclassified	BrainSpLMD|79770	OMIM|617778
EN-V1-1	CTD.2349P21.10	0.365184024	0.000153998			
EN-V1-1	NCK2	0.779852878	0.000155732	Adapter molecule	BrainSpLMD|8440;BrainSpMouseDev|17741	OMIM|604930
EN-V1-1	CMSS1	0.520721603	0.000168104	Unclassified	BrainSpLMD|84319	
EN-V1-1	RORB	0.681341484	0.000175116	Transcription factor	BrainSpLMD|6096;Eurexp|euxassay_002725|diencephalon, dorsal grey horn, hindbrain, marginal layer, midbrain, neural retina, ventricular layer;BrainSpMouseDev|86335	OMIM|601972
EN-V1-1	BCAT1	0.412078471	0.000175899	Enzyme: Aminotransferase	BrainSpLMD|586;Eurexp|euxassay_010499|brain, clavicle, facial VII, incisor, mandible, nasal septum, neural retina, orbito-sphenoid, rib, spinal cord, tongue, trigeminal V, turbinate bones;BrainSpMouseDev|11821	OMIM|113520
EN-V1-1	NIT2	0.294127908	0.000178628	Enzyme: Hydrolase	BrainSpLMD|56954	OMIM|616769
EN-V1-1	ATP5S	0.327716731	0.000182966	Unclassified	BrainSpLMD|27109	
EN-V1-1	TNPO3	0.287913777	0.000183539	Nuclear receptor	BrainSpLMD|23534	OMIM|610032;HPO|23534|Abnormality of lipid metabolism, Abnormality of the intrahepatic bile duct, Abnormality of the thyroid gland, Antinuclear antibody positivity, Biliary cirrhosis, Cirrhosis, Conjugated hyperbilirubinemia, Dermatographic urticaria, Elevated alkaline phosphatase, Hepatic failure, Hepatic fibrosis, Hepatocellular carcinoma, Hyperpigmentation of the skin, Increased IgM level, Jaundice, Onychomycosis, Orthostatic hypotension, Portal hypertension, Pruritus
EN-V1-1	VMA21	0.471661586	0.000183885	Unclassified		OMIM|300913;HPO|203547|Difficulty climbing stairs, Difficulty running, Elevated serum creatine phosphokinase, Gowers sign, Incomplete penetrance, Myopathy, Myotonia, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Slow progression, X-linked recessive inheritance
EN-V1-1	ZFAND6	0.26412178	0.000187465	Adapter molecule	BrainSpLMD|54469	OMIM|610183
EN-V1-1	FBXO45	0.436470801	0.000187836	Unclassified	Eurexp|euxassay_016469|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn	OMIM|609112
EN-V1-1	IFT22	0.462224058	0.000188496	GTPase	BrainSpLMD|64792	
EN-V1-1	DYM	0.29158396	0.000194888	Integral membrane protein	BrainSpLMD|54808	OMIM|607461;HPO|54808|Abnormality of epiphysis morphology, Abnormality of the ilium, Abnormality of the metaphysis, Abnormality of the wrist, Atlantoaxial instability, Autosomal recessive inheritance, Barrel-shaped chest, Beaking of vertebral bodies, Broad foot, Broad palm, Camptodactyly, Carpal bone hypoplasia, Coarse facial features, Cone-shaped epiphyses of the phalanges of the hand, Deformed sella turcica, Delayed femoral head ossification, Disproportionate short-trunk short stature, Dolichocephaly, Enlargement of the costochondral junction, Flat acetabular roof, Flat glenoid fossa, Genu valgum, Genu varum, Global developmental delay, Hip dislocation, Hyperlordosis, Hypoplasia of the odontoid process, Hypoplastic acetabulae, Hypoplastic facial bones, Hypoplastic iliac wing, Hypoplastic scapulae, Iliac crest serration, Intellectual disability, Irregular epiphyses, Joint stiffness, Kyphosis, Lumbar hyperlordosis, Mandibular prognathia, Metaphyseal irregularity, Microcephaly, Micromelia, Multicentric femoral head ossification, Multicentric ossification of proximal femoral epiphyses, Multicentric ossification of proximal humeral epiphyses, Narrow greater sacrosciatic notches, Neurological speech impairment, Pectus carinatum, Platyspondyly, Postnatal growth retardation, Prominent sternum, Rhizomelia, Scoliosis, Severe global developmental delay, Shield chest, Short metacarpal, Short metatarsal, Short neck, Short phalanx of finger, Short thorax, Skeletal dysplasia, Sloping forehead, Spinal canal stenosis, Thickened calvaria, Thoracic kyphosis, Waddling gait, Wide pubic symphysis
EN-V1-1	ZNF529	0.723888076	0.00019756	DNA binding protein	BrainSpLMD|57711	
EN-V1-1	WDR43	0.264173845	0.000199204	Unclassified	Eurexp|euxassay_006414|axial muscle, clavicle, cortex, incisor, midgut, molar, submandibular gland primordium, thymus primordium, vibrissa	OMIM|616195
EN-V1-1	THAP2	0.729609475	0.000210425	DNA binding protein	BrainSpLMD|83591	OMIM|612531
EN-V1-1	AP3B2	0.412997686	0.00021086	Transport/cargo protein	BrainSpLMD|8120;Eurexp|euxassay_014714|adrenal gland, brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, testis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|602166;HPO|8120|Absent speech, Autosomal recessive inheritance, Dyskinesia, Epileptic encephalopathy, Generalized hypotonia, Global developmental delay, Poor eye contact, Rod-cone dystrophy
EN-V1-1	ANAPC16	0.566165117	0.000212954	Unclassified	BrainSpLMD|119504	OMIM|613427
EN-V1-1	NDUFAF4	0.620915772	0.000227022	Cell cycle control protein	BrainSpLMD|29078;Eurexp|euxassay_006782|epithelium, left, left lung, metanephros, midgut, pectoral girdle and thoracic body wall, right, right lung, submandibular gland primordium, vibrissa	OMIM|611776;HPO|29078|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
EN-V1-1	LINC00641	0.384172807	0.000233314			
EN-V1-1	KARS	0.276002557	0.000243733	Enzyme: Ligase	BrainSpLMD|3735;Eurexp|euxassay_002719|orbito-sphenoid	OMIM|601421;HPO|3735|Areflexia, Autosomal recessive inheritance, Distal sensory impairment, Foot dorsiflexor weakness, Global developmental delay, Hearing impairment, Hyporeflexia, Pes cavus, Steppage gait, Vestibular Schwannoma
EN-V1-1	BMI1	0.267424569	0.000243795	DNA binding protein	BrainSpLMD|648;Eurexp|euxassay_008247|brain, cartilaginous ring, cortex, diaphragm, extraembryonic component, incisor, left lung, midgut, molar, oesophagus, olfactory, pancreas, right lung, spinal cord, stomach, submandibular gland primordium, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|164831
EN-V1-1	ARL6IP5	0.372612062	0.000270249	Unclassified	BrainSpLMD|10550	OMIM|605709
EN-V1-1	UBE2N	0.287423833	0.000277574	Ubiquitin proteasome system protein	BrainSpLMD|7334	OMIM|603679
EN-V1-1	UBLCP1	0.382130876	0.000278044	Enzyme: Phosphatase	BrainSpLMD|134510	OMIM|609867
EN-V1-1	DSEL	0.470468433	0.00028148	Enzyme: Sulphotransferase	BrainSpLMD|92126	OMIM|611125
EN-V1-1	VPS26B	0.616831078	0.000281662	Transport/cargo protein	BrainSpLMD|112936	OMIM|610027
EN-V1-1	CASK	0.29306873	0.000287658	Serine/threonine kinase	BrainSpLMD|8573	SFARI||Autism, 4 - Minimal evidence;OMIM|300172;HPO|8573|Absent speech, Broad forehead, Broad nasal tip, Cataract, Cerebellar hypoplasia, Cerebral cortical atrophy, Decreased body weight, Dilated fourth ventricle, Epicanthus, Gait disturbance, Generalized hypotonia, Global developmental delay, High palate, Hyperreflexia, Hypertelorism, Hypohidrosis, Intellectual disability, Intellectual disability, moderate, Large eyes, Long philtrum, Macrotia, Microcephaly, Micrognathia, Muscle weakness, Muscular hypotonia of the trunk, Myopia, Nystagmus, Oval face, Postnatal growth retardation, Progressive microcephaly, Prominent nasal bridge, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Short nose, Short stature, Spasticity, Strabismus, Visual impairment, Wide nasal bridge, X-linked dominant inheritance, X-linked inheritance
EN-V1-1	OTUD6B	0.403390565	0.000294784	Unclassified	BrainSpLMD|51633	OMIM|612021;HPO|51633|Autistic behavior, Autosomal recessive inheritance, Brachycephaly, Broad thumb, Cryptorchidism, Downslanted palpebral fissures, Failure to thrive, Feeding difficulties, Flat occiput, Flexion contracture, Generalized hypotonia, Global developmental delay, Hearing impairment, High palate, Highly arched eyebrow, Hypoplasia of the corpus callosum, Inability to walk, Intellectual disability, severe, Intrauterine growth retardation, Long eyelashes, Long face, Long palpebral fissure, Long philtrum, Low-set ears, Macrotia, Microcephaly, Overlapping toe, Phenotypic variability, Prominent nasal bridge, Protruding ear, Retrognathia, Sacral dimple, Scoliosis, Short neck, Short stature, Spastic tetraplegia, Talipes equinovarus, Tapered finger, Thin upper lip vermilion, Ventriculomegaly, Wide nasal bridge
EN-V1-1	MPLKIP	0.307819533	0.000302837	Unclassified	BrainSpLMD|136647	OMIM|609188;HPO|136647|Autosomal recessive inheritance, Brittle hair, Concave nail, Decreased fertility, Global developmental delay, Growth delay, Intellectual disability, Macrotia, Microcephaly, Small nail, Sparse hair, Trichorrhexis nodosa
EN-V1-1	PDE10A	0.403745591	0.000305185	Enzyme: Phosphodiesterase	BrainSpLMD|10846;Eurexp|euxassay_000057|alar plate, basal plate, cerebellum, cerebral cortex, dorsal root ganglion, epithalamus, facial VII, floor plate, floorplate, glossopharyngeal IX, lateral wall, mantle layer, neural retina, pons, roof plate, spinal cord, tegmentum, telencephalon, thalamus, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|23735	OMIM|610652;HPO|10846|Abnormality of the striatum, Autosomal dominant inheritance, Autosomal recessive inheritance, Chorea, Drooling, Dysarthria, Dyskinesia, Frequent falls, Hyperkinesis, Infantile onset, Intellectual disability, Mental deterioration, Motor delay, Muscular hypotonia of the trunk, Nonprogressive, Orofacial dyskinesia, Parkinsonism, Seizures, Unsteady gait
EN-V1-1	MFF	0.363120461	0.000307686	Integral membrane protein	BrainSpLMD|56947	OMIM|614785;HPO|56947|Absent speech, Autosomal recessive inheritance, Cerebellar atrophy, Dysphagia, External ophthalmoplegia, Global developmental delay, Hyperreflexia, Hypsarrhythmia, Inability to walk, Infantile onset, Microcephaly, Optic atrophy, Peripheral neuropathy, Progressive, Seizures, Severe muscular hypotonia, Spasticity, Visual impairment
EN-V1-1	TSPAN13	0.297886159	0.000319299	Integral membrane protein	BrainSpLMD|27075;Eurexp|euxassay_003891|brain, cervical, cervico-thoracic, dorsal root ganglion, ductus deferens, facial VII, fundus region, glossopharyngeal IX, left lung, neural retina, olfactory, physiological umbilical hernia, rectum, right lung, spinal cord, stomach, thoracic, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII	OMIM|613139
EN-V1-1	EFHC1	0.268614659	0.000335152	Unclassified	BrainSpLMD|114327;Eurexp|euxassay_011763|choroid invagination, choroid plexus, epithelium, olfactory, roof plate	OMIM|608815;HPO|114327|Abnormality of eye movement, Abnormality of the mouth, EEG with polyspike wave complexes, Generalized tonic-clonic seizures
EN-V1-1	PPP1R11	0.479771441	0.000336474	Regulatory/other subunit	BrainSpLMD|6992;Eurexp|euxassay_007087|embryo	OMIM|606670
EN-V1-1	SCN3A	0.328925284	0.000347572	Voltage gated channel	BrainSpLMD|6328	OMIM|182391
EN-V1-1	PIP4K2B	0.464111192	0.000348468	Lipid Kinase	BrainSpLMD|8396;Eurexp|euxassay_004158|diencephalon, mandible, olfactory, petrous part, telencephalon, ventricular layer	OMIM|603261
EN-V1-1	ZNF134	0.563390723	0.000350218	Transcription regulatory protein	BrainSpLMD|7693	OMIM|604076
EN-V1-1	WDR60	0.396362146	0.000360812	Unclassified	BrainSpLMD|55112;Eurexp|euxassay_012520|mandible, maxilla, olfactory, orbito-sphenoid	OMIM|615462;HPO|55112|Abdominal distention, Abnormal pelvis bone ossification, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Absent or minimally ossified vertebral bodies, Acetabular spurs, Ambiguous genitalia, Autosomal recessive inheritance, Brachydactyly, Cleft upper lip, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Failure to thrive, Femoral bowing, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypoplasia of penis, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Narrow chest, Pancreatic fibrosis, Polyhydramnios, Postaxial hand polydactyly, Postaxial polydactyly, Preaxial polydactyly, Pulmonary hypoplasia, Renal hypoplasia, Respiratory insufficiency, Short foot, Short long bone, Short palm, Short ribs, Short stature, Short thorax, Skeletal dysplasia, Syndactyly, Thoracic dysplasia, Urethrovaginal fistula, Uterus didelphys, Ventricular septal defect, Wide nose
EN-V1-1	UTP14C	0.363684336	0.000361355	Unclassified		OMIM|608969
EN-V1-1	KCNMB4	0.421804552	0.000371262	Transport/cargo protein	BrainSpLMD|27345;Eurexp|euxassay_008263|anterior, dorsal root ganglion, external, facial VII, glossopharyngeal IX, incisor, mantle layer, molar, phalanx, tarsus, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|37365	OMIM|605223
EN-V1-1	CHURC1	0.547781429	0.000377662	Transcription regulatory protein	BrainSpLMD|91612;Eurexp|euxassay_011573|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|84269	OMIM|608577
EN-V1-1	KRAS	0.461250825	0.000380817	GTPase	BrainSpLMD|3845	OMIM|190070;COSMIC||pancreatic, colorectal, lung, thyroid, AML, other tumour types;HPO|3845|Abdominal pain, Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of cardiovascular system morphology, Abnormality of coagulation, Abnormality of dental color, Abnormality of dental morphology, Abnormality of finger, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Abnormality of the spleen, Abnormality of the ulna, Abnormality of the ureter, Abnormality of toe, Abnormality of vision, Absent eyebrow, Absent septum pellucidum, Acute myeloid leukemia, Adenoma sebaceum, Aganglionic megacolon, Agenesis of corpus callosum, Alopecia, Alveolar cell carcinoma, Anteverted nares, Anxiety, Aphasia, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the skin, Arrhythmia, Asymmetric growth, Atrial septal defect, Atrial septal dilatation, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Basal cell carcinoma, Biparietal narrowing, Blepharophimosis, Bone cyst, Brachydactyly, Breast carcinoma, Brittle hair, Broad forehead, Capillary hemangiomas, Cavernous hemangioma, Cerebral calcification, Cerebral cortical atrophy, Chronic atrophic gastritis, Coarctation of aorta, Coarse facial features, Coarse hair, Coloboma, Colon cancer, Constipation, Corneal opacity, Cranial asymmetry, Craniofacial hyperostosis, Cryptorchidism, Curly hair, Cystic hygroma, Death in early adulthood, Death in infancy, Deep palmar crease, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Downslanted palpebral fissures, Dry skin, Dysarthria, Dysphasia, Dystrophic fingernails, EEG abnormality, Echolalia, Enlarged thorax, Epibulbar dermoid, Epicanthus, Excessive wrinkled skin, Facial asymmetry, Failure to thrive, Failure to thrive in infancy, Fatigue, Feeding difficulties, Feeding difficulties in infancy, Fine hair, Frontal bossing, Full cheeks, Gastrointestinal hemorrhage, Generalized hyperpigmentation, Genu recurvatum, Glioblastoma, Global developmental delay, Growth delay, Hearing impairment, Hemangioma, Hemimegalencephaly, Hepatomegaly, Heterogeneous, High forehead, High palate, Horseshoe kidney, Hyperextensible skin, Hyperreflexia, Hypertelorism, Hypertonia, Hypogonadotrophic hypogonadism, Hypophosphatemic rickets, Hypopigmentation of the skin, Hypoplasia of the zygomatic bone, Ichthyosis, Increased intracranial pressure, Intellectual disability, Iris coloboma, Irregular hyperpigmentation, Irritability, Joint hyperflexibility, Juvenile myelomonocytic leukemia, Kyphoscoliosis, Laryngeal hypoplasia, Lipodystrophy, Long face, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Malabsorption, Melanocytic nevus, Micrognathia, Microphthalmia, Midface retrusion, Migraine, Mitral valve prolapse, Multiple cafe-au-lait spots, Multiple lentigines, Multiple lipomas, Muscle stiffness, Muscle weakness, Muscular hypotonia, Mutism, Myopia, Nausea and vomiting, Neoplasm of the pancreas, Neoplasm of the rectum, Neoplasm of the skeletal system, Nevus flammeus, Nevus sebaceous, Nystagmus, Osteolysis, Osteopenia, Overgrowth, Palmoplantar keratoderma, Pectus carinatum, Pectus excavatum, Peripheral axonal neuropathy, Plagiocephaly, Polyhydramnios, Porencephalic cyst, Posteriorly rotated ears, Premature birth, Prominent occiput, Proptosis, Ptosis, Pulmonary arterial hypertension, Pulmonary artery stenosis, Pulmonic stenosis, Recurrent fractures, Reduced tendon reflexes, Retinopathy, Rigidity, Sagittal craniosynostosis, Scoliosis, Seizures, Short neck, Short nose, Short palm, Short palpebral fissure, Short stature, Slow-growing hair, Somatic mosaicism, Somatic mutation, Sparse hair, Sparse or absent eyelashes, Spasticity, Sporadic, Stomach cancer, Strabismus, Subcortical cerebral atrophy, Subcutaneous nodule, Telecanthus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Transitional cell carcinoma of the bladder, Triangular face, Tricuspid valve prolapse, Underdeveloped supraorbital ridges, Ventricular septal defect, Ventriculomegaly, Vertebral segmentation defect, Visceral angiomatosis, Webbed neck, Weight loss, Wide intermamillary distance, Xanthomatosis
EN-V1-1	NPIPA7	0.290258664	0.000391946			
EN-V1-1	RC3H2	0.501747879	0.000408458	DNA binding protein	BrainSpLMD|54542	OMIM|615231
EN-V1-1	SEH1L	0.423517852	0.000437224	Unclassified	BrainSpLMD|81929	OMIM|609263
EN-V1-1	PSD3	0.468197531	0.000440101	Guanine nucleotide exchange factor	BrainSpLMD|23362	SFARI||Autism, 4 - Minimal evidence;OMIM|614440
EN-V1-1	ARPC1A	0.270662719	0.000443755	Cytoskeletal protein	BrainSpLMD|10552	OMIM|604220
EN-V1-1	RP11.658F2.8	0.293012273	0.000445151			
EN-V1-1	MTMR6	0.336754744	0.000446988	Lipid phosphatase	BrainSpLMD|9107;Eurexp|euxassay_008326|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|603561
EN-V1-1	RP11.408P14.1	0.360999792	0.000461039			
EN-V1-1	ZNHIT3	0.266313065	0.000466502	Transcription regulatory protein	BrainSpLMD|9326;Eurexp|euxassay_019512|liver, pancreas, submandibular gland primordium, thymus primordium, vibrissa	OMIM|604500;HPO|9326|Abnormality of eye movement, Abnormality of movement, Abnormality of the hand, Abnormality of the palate, Abnormality of upper lip, Anteverted nares, Atrophy/Degeneration affecting the brainstem, Autosomal recessive inheritance, Biparietal narrowing, Cerebellar atrophy, Cerebral cortical atrophy, Developmental stagnation, Drowsiness, Edema, Edema of the lower limbs, Epicanthus, External ear malformation, Feeding difficulties, Feeding difficulties in infancy, Full cheeks, Gingival overgrowth, Global developmental delay, Hydrocephalus, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile encephalopathy, Infantile spasms, Intellectual disability, profound, Intellectual disability, severe, Limitation of joint mobility, Macrotia, Malar flattening, Microcephaly, Midface retrusion, Myoclonus, Narrow forehead, Neuronal loss in central nervous system, Open mouth, Optic atrophy, Pachygyria, Palpebral edema, Peripheral dysmyelination, Peripheral edema, Polymicrogyria, Porencephalic cyst, Progressive microcephaly, Recurrent respiratory infections, Retrognathia, Seizures, Severe muscular hypotonia, Short nose, Tapered finger, Tented upper lip vermilion, Undetectable visual evoked potentials, Ventriculomegaly, Visual loss
EN-V1-1	VTI1B	0.30973099	0.000471683	Unclassified	BrainSpLMD|10490;Eurexp|euxassay_009816|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	OMIM|603207
EN-V1-1	LRRC37B	0.597697526	0.000479805	Unclassified		OMIM|616558
EN-V1-1	PPFIBP1	0.589629701	0.000492165	Anchor protein	BrainSpLMD|8496;BrainSpMouseDev|43376	OMIM|603141;COSMIC||Spitzoid tumour, inflammatory myofibroblastic tumour
EN-V1-1	MRPL19	0.338343241	0.000494251	Ribosomal subunit	BrainSpLMD|9801	OMIM|611832
EN-V1-1	ZNF891	0.277727828	0.000507209			
EN-V1-1	RP11.112J1.1	0.251264204	0.000521224			
EN-V1-1	POGLUT1	0.3429524	0.000530946	Unclassified	BrainSpLMD|56983	OMIM|615618;HPO|56983|Autosomal dominant inheritance, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Epidermal acanthosis, Proximal muscle weakness in lower limbs, Respiratory insufficiency, Scapular winging, Slow progression
EN-V1-1	RUSC2	0.69373912	0.000544066	Unclassified		OMIM|611053
EN-V1-1	SLC22A17	0.279629063	0.00056051	Transport/cargo protein	BrainSpLMD|51310	OMIM|611461
EN-V1-1	NVL	0.251217381	0.000563571	ATPase	BrainSpLMD|4931	OMIM|602426
EN-V1-1	TDRD3	0.557028753	0.000575689	RNA binding protein	BrainSpLMD|81550	OMIM|614392
EN-V1-1	PPP3CB	0.521271594	0.00057683	Serine/threonine phosphatase	BrainSpLMD|5532	OMIM|114106
EN-V1-1	ZNF471	0.502378267	0.000577374	DNA binding protein	BrainSpLMD|57573	
EN-V1-1	NDUFV3	0.638186635	0.000581586	Enzyme: Oxidoreductase	BrainSpLMD|4731;Eurexp|euxassay_003892|dorsal root ganglion, glossopharyngeal IX, trigeminal V	OMIM|602184
EN-V1-1	VPS37A	0.336964751	0.000592175	Growth inhibitory factor	BrainSpLMD|137492	OMIM|609927;HPO|137492|Autosomal recessive inheritance, Clonus, Cognitive impairment, Delayed speech and language development, Gait disturbance, Global developmental delay, Hypertrichosis, Kyphosis, Spastic paraplegia
EN-V1-1	KLHDC2	0.454734347	0.00062533	Transcription regulatory protein	BrainSpLMD|23588;Eurexp|euxassay_008697|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611280
EN-V1-1	MID1	0.459823369	0.000638208	Transcription regulatory protein;Ubiquitin proteasome system protein	BrainSpLMD|4281;Eurexp|euxassay_013835|excretory component, marginal layer, neural retina, ventricular layer;BrainSpMouseDev|17087	OMIM|300552;HPO|4281|Abnormal heart morphology, Abnormality of the nasopharynx, Agenesis of corpus callosum, Anal atresia, Anteverted nares, Aspiration, Cleft palate, Cleft upper lip, Cryptorchidism, Dysphagia, Esophageal atresia, Frontal bossing, Gastroesophageal reflux, Global developmental delay, Heterogeneous, High palate, Hypertelorism, Hypospadias, Posterior pharyngeal cleft, Prominent forehead, Smooth philtrum, Telecanthus, Thin upper lip vermilion, Tracheoesophageal fistula, Wide nasal bridge, Widow's peak, X-linked recessive inheritance
EN-V1-1	TIMM10	0.263692284	0.000661365	Chaperone	BrainSpLMD|26519	OMIM|602251
EN-V1-1	NDUFA13	0.367055979	0.000707973	Enzyme: Oxidoreductase	BrainSpLMD|51079	OMIM|609435
EN-V1-1	ATP6V1B2	0.411768236	0.000724861	Transport/cargo protein	BrainSpLMD|526;Eurexp|euxassay_009121|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, naris, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606939;HPO|526|Anonychia, Autosomal dominant inheritance, Bifid nasal tip, Brachydactyly, Congenital onset, Deep philtrum, Gingival overgrowth, Hidrotic ectodermal dysplasia, Macroglossia, Nail dystrophy, Phenotypic variability, Prominent nasal septum, Sensorineural hearing impairment, Short neck, Short stature, Small nail, Synophrys, Thick eyebrow, Thick vermilion border, Toe syndactyly, Underdeveloped nasal alae, Wide nasal bridge
EN-V1-1	PVRL3	0.620338943	0.0007435			
EN-V1-1	SMAD9	0.277986379	0.000755667	Transcription factor;Unclassified	BrainSpLMD|4093;BrainSpMouseDev|35279	OMIM|603295;HPO|4093|Autosomal dominant inheritance, Incomplete penetrance, Increased pulmonary vascular resistance, Progressive, Pulmonary arterial hypertension
EN-V1-1	ALMS1	0.326684906	0.000763248	Unclassified	BrainSpLMD|7840;Eurexp|euxassay_013199|epithelium, olfactory	OMIM|606844;HPO|7840|Abnormality of the dentition, Abnormality of the hand, Acanthosis nigricans, Accelerated skeletal maturation, Alopecia, Asthma, Atherosclerosis, Autosomal recessive inheritance, Blindness, Cataract, Chorioretinal abnormality, Chronic active hepatitis, Chronic otitis media, Cone/cone-rod dystrophy, Congestive heart failure, Constriction of peripheral visual field, Death in early adulthood, Decreased circulating high-density lipoprotein levels, Diabetes insipidus, Dilated cardiomyopathy, Elevated hepatic transaminases, Gingivitis, Global developmental delay, Growth hormone deficiency, Gynecomastia, Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hyperostosis frontalis interna, Hypertension, Hypertriglyceridemia, Hyperuricemia, Hypothyroidism, Insulin resistance, Insulin-resistant diabetes mellitus, Kyphosis, Menstrual irregularities, Multinodular goiter, Nephritis, Nystagmus, Otitis media, Pes planus, Photophobia, Pigmentary retinopathy, Progressive sensorineural hearing impairment, Progressive visual loss, Pulmonary arterial hypertension, Recurrent pneumonia, Recurrent respiratory infections, Renal insufficiency, Respiratory insufficiency, Scoliosis, Short stature, Subcapsular cataract, Truncal obesity, Tubulointerstitial nephritis, Type II diabetes mellitus
EN-V1-1	SLC41A2	0.301910709	0.000763757	Membrane transport protein	BrainSpLMD|84102	OMIM|610802
EN-V1-1	CCDC132	0.595673611	0.000782688			
EN-V1-1	MT.TQ	0.313710548	0.000798877			
EN-V1-1	ENTPD1.AS1	0.42924275	0.000861917			
EN-V1-1	TASP1	0.272048311	0.000864753	Protease	BrainSpLMD|55617	OMIM|608270
EN-V1-1	GATS	0.514236183	0.000886681	Unclassified	BrainSpLMD|352954	
EN-V1-1	PIK3CB	0.767649694	0.001016888	Lipid Kinase	BrainSpLMD|5291;BrainSpMouseDev|50610	OMIM|602925;COSMIC||SCC, NSCLC
EN-V1-1	MAP9	0.28232326	0.001018814	Unclassified	BrainSpLMD|79884	OMIM|610070
EN-V1-1	CNRIP1	0.47113731	0.001022524	Unclassified	BrainSpLMD|25927	
EN-V1-1	ZFP1	0.744469231	0.001036022	DNA binding protein	BrainSpLMD|162239	OMIM|617230
EN-V1-1	ZHX1	0.288928865	0.001042716	Transcription factor	BrainSpLMD|11244;BrainSpMouseDev|22527	OMIM|604764
EN-V1-1	CSRNP2	0.293156452	0.001105956	Unclassified	BrainSpLMD|81566	
EN-V1-1	RPL41P2	0.287602632	0.00112105			
EN-V1-1	MITD1	0.417404341	0.001130921	Unclassified	BrainSpLMD|129531	
EN-V1-1	ZNF37A	0.303907229	0.001144853	DNA binding protein	BrainSpLMD|7587	OMIM|616085
EN-V1-1	GTF2A1	0.503618345	0.001200587	Transcription factor	BrainSpLMD|2957;Eurexp|euxassay_010712|olfactory	OMIM|600520
EN-V1-1	IRGQ	0.37166897	0.001204166	Unclassified		
EN-V1-1	ZNF429	0.373102692	0.001209368	DNA binding protein	BrainSpLMD|353088	COSMIC||GBM
EN-V1-1	THAP9.AS1	0.281397182	0.001214824			
EN-V1-1	HCFC2	0.590519468	0.001290235	Transcription regulatory protein	BrainSpLMD|29915	OMIM|607926
EN-V1-1	ZNF566	0.251425334	0.001399339	Transcription regulatory protein	BrainSpLMD|84924	
EN-V1-1	DKK3	0.866914108	0.001464922	Ligand	BrainSpLMD|27122;Eurexp|euxassay_018106|aorta, axial skeleton, femur, humerus, mesenchyme, neural retina, rib, ventricular layer;BrainSpMouseDev|30269	OMIM|605416
EN-V1-1	ZFHX2	0.434759402	0.001493835	Transcription regulatory protein	BrainSpLMD|85446;BrainSpMouseDev|88528	
EN-V1-1	APMAP	0.327829808	0.001552357	Unclassified	BrainSpLMD|57136;Eurexp|euxassay_005406|olfactory	OMIM|615884
EN-V1-1	STX12	0.484930017	0.001612313	Membrane transport protein	BrainSpLMD|23673;Eurexp|euxassay_011670|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606892
EN-V1-1	C11orf57	0.335106031	0.001622874			
EN-V1-1	FIG4	0.296854264	0.001628355	Enzyme: Phospholipase	BrainSpLMD|9896;Eurexp|euxassay_000085|cerebral cortex, dorsal root ganglion, marginal layer, nucleus pulposus, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|609390;HPO|9896|Abnormality of blood and blood-forming tissues, Abnormality of the neck, Abnormality of the scapula, Absent nipple, Absent sternal ossification, Absent thumb, Agenesis of corpus callosum, Aggressive behavior, Amyotrophic lateral sclerosis, Ankle contracture, Anteverted nares, Anxiety, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the nails, Aplastic clavicles, Areflexia, Arrhinencephaly, Autosomal dominant inheritance, Autosomal recessive inheritance, Axonal loss, Broad secondary alveolar ridge, Bulbar signs, Cardiomyopathy, Cataract, Cryptorchidism, Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Decreased skull ossification, Depressivity, Distal arthrogryposis, Distal muscle weakness, Distal sensory impairment, Dolichocephaly, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Focal seizures with impairment of consciousness or awareness, Frequent falls, Gait disturbance, Generalized hypotonia, Generalized muscle weakness, Hearing impairment, Hip dislocation, Hydrops fetalis, Hypertelorism, Hypoplastic facial bones, Hyporeflexia, Hypospadias, Intrauterine growth retardation, Large fontanelles, Low-set ears, Microcephaly, Micrognathia, Micropenis, Muscle cramps, Neurodegeneration, Onion bulb formation, Pachygyria, Pain, Paralysis, Peripheral hypomyelination, Polyhydramnios, Polymicrogyria, Premature birth, Premature loss of primary teeth, Progressive, Proptosis, Pulmonary arterial hypertension, Pyloric stenosis, Respiratory failure, Sclerocornea, Severe failure to thrive, Severe global developmental delay, Short clavicles, Short finger, Short philtrum, Short toe, Short upper lip, Single transverse palmar crease, Skeletal muscle atrophy, Small earlobe, Sparse and thin eyebrow, Sparse eyelashes, Sparse scalp hair, Spasticity, Status epilepticus, Tapered finger, Tapered toe, Tetralogy of Fallot, Thin vermilion border, Toe syndactyly, Upper motor neuron dysfunction, Upslanted palpebral fissure, Variable expressivity, Ventricular septal defect, Ventriculomegaly, Visual hallucinations, Xerostomia
EN-V1-1	UBP1	0.517550718	0.001652859	Transcription factor	BrainSpLMD|7342	OMIM|609784
EN-V1-1	FBXO25	0.928631894	0.001680813	Ubiquitin proteasome system protein	BrainSpLMD|26260;Eurexp|euxassay_004436|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V	OMIM|609098
EN-V1-1	MRPS35	0.422985794	0.001776704	Ribosomal subunit	BrainSpLMD|60488	OMIM|611995
EN-V1-1	MTPAP	0.319764745	0.001838038	RNA polymerase	BrainSpLMD|55149;Eurexp|euxassay_002898|lobe	OMIM|613669;HPO|55149|Autosomal recessive inheritance, Babinski sign, Delayed speech and language development, Dysarthria, Hyporeflexia, Nystagmus, Optic atrophy, Slow progression, Spastic ataxia, Spastic paraparesis
EN-V1-1	SLC35A5	0.332201708	0.001840769	Membrane transport protein	BrainSpLMD|55032	
EN-V1-1	NDUFS7	0.421514003	0.001843837	Enzyme: Oxidoreductase	BrainSpLMD|374291	OMIM|601825;HPO|374291|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
EN-V1-1	PPAT	0.372689739	0.001878163	Enzyme: Ribosyltransferase	BrainSpLMD|5471;Eurexp|euxassay_012583|left lung, liver, metanephros, midgut, olfactory lobe, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|172450
EN-V1-1	UTP6	0.304705335	0.001920029	Unclassified	BrainSpLMD|55813	
EN-V1-1	SDAD1	0.258377522	0.001957039	Unclassified	BrainSpLMD|55153	
EN-V1-1	ITFG1	0.598091228	0.002054814	Integral membrane protein	BrainSpLMD|81533;Eurexp|euxassay_011448|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611803
EN-V1-1	RNF216P1	0.338598225	0.00205511		BrainSpLMD|441191	
EN-V1-1	ZNF300	0.308522258	0.002088431	DNA binding protein	BrainSpLMD|91975	OMIM|612429
EN-V1-1	UBE2D4	0.482680985	0.002112585	Ubiquitin proteasome system protein	BrainSpLMD|51619	
EN-V1-1	AKAP11	0.339292497	0.002129868	Anchor protein	BrainSpLMD|11215;Eurexp|euxassay_007645|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|604696
EN-V1-1	TRIM16	0.403577213	0.002163205	Cytoskeletal protein	BrainSpLMD|10626	OMIM|609505
EN-V1-1	ZNF44	0.6006689	0.002176081	Transcription regulatory protein	BrainSpLMD|51710	OMIM|194542
EN-V1-1	KATNAL1	0.324595301	0.002197341	ATPase	BrainSpLMD|84056	SFARI||Autism, 4 - Minimal evidence;OMIM|614764
EN-V1-1	PXK	0.264133646	0.002287958	Serine/threonine kinase	BrainSpLMD|54899;Eurexp|euxassay_001792|hindbrain, mantle layer, marginal layer, midbrain, spinal cord	OMIM|611450
EN-V1-1	MPZL1	0.403224605	0.002327886	Unclassified	BrainSpLMD|9019	OMIM|604376
EN-V1-1	HKR1	0.38898448	0.002350818	Transcription regulatory protein	BrainSpLMD|284459	OMIM|165250
EN-V1-1	EIF3J	0.264517151	0.002375931	Translation regulatory protein	BrainSpLMD|8669	OMIM|603910
EN-V1-1	APBA2	0.491617803	0.002396279	Adapter molecule	BrainSpLMD|321;Eurexp|euxassay_012116|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, naris, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, radius, rib, scapula, tibia, turbinate bones;BrainSpMouseDev|11571	SFARI||Autism, 4 - Minimal evidence;OMIM|602712
EN-V1-1	ATIC	0.264945047	0.002419458	Enzyme: Hydrolase	BrainSpLMD|471;Eurexp|euxassay_001450|cortex, heart, left ventricle, olfactory, right ventricle	OMIM|601731;COSMIC||ALCL;HPO|471|Abnormality of metabolism/homeostasis, Abnormality of the skin, Anteverted nares, Atrial septal defect, Autosomal recessive inheritance, Brachycephaly, Clitoral hypertrophy, Congenital blindness, Frontal bossing, Fused labia minora, Generalized hypotonia, Intellectual disability, profound, Intellectual disability, severe, Low-set ears, Optic atrophy, Prominent forehead, Prominent nasal bridge, Seizures, Thin upper lip vermilion, Wide mouth
EN-V1-1	SS18L2	0.30169794	0.002437817	Unclassified	BrainSpLMD|51188;Eurexp|euxassay_007845|Meckel's cartilage, basioccipital bone, clavicle, cricoid, fibula, metatarsus, nasal septum, orbito-sphenoid, otic capsule, rib, submandibular gland primordium, temporal bone, thyroid, tibia, turbinate	OMIM|606473
EN-V1-1	EIF3F	0.320814574	0.002448386	Translation regulatory protein		OMIM|603914
EN-V1-1	DCAF6	0.431283414	0.002457145	Transcription regulatory protein	BrainSpLMD|55827	OMIM|610494
EN-V1-1	ATP2A2	0.545526297	0.002669264	Membrane transport protein	BrainSpLMD|488	OMIM|108740;HPO|488|Abnormality of the hair, Acrokeratosis, Anal mucosal leukoplakia, Autosomal dominant inheritance, Bipolar affective disorder, Enlargement of parotid gland, Epidermal acanthosis, Hyperkeratosis, Hypermelanotic macule, Intellectual disability, mild, Palmar pits, Palmoplantar keratoderma, Plantar pits, Pruritus, Ridged nail, Schizophrenia, Seizures, Subungual hyperkeratotic fragments
EN-V1-1	SUMO3	0.334223759	0.002692944	Ubiquitin proteasome system protein	BrainSpLMD|6612	OMIM|602231
EN-V1-1	ATP6V1C1	0.315098786	0.002769323	ATPase	BrainSpLMD|528;Eurexp|euxassay_002745|basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, inferior, mantle layer, marginal layer, superior, trigeminal V, vagus X, ventral grey horn, vestibular component, vibrissa	OMIM|603097
EN-V1-1	ERP29	0.448898736	0.002865744	Chaperone	BrainSpLMD|10961;Eurexp|euxassay_001731|Meckel's cartilage	OMIM|602287
EN-V1-1	CUL2	0.280198076	0.002995493	Ubiquitin proteasome system protein	BrainSpLMD|8453;Eurexp|euxassay_002364|cervical, cervico-thoracic, dorsal root ganglion, thoracic, trigeminal V	OMIM|603135
EN-V1-1	RP11.127B20.2	0.678157667	0.002997982			
EN-V1-1	ARF5	0.393195611	0.003015179	G protein	BrainSpLMD|381	OMIM|103188
EN-V1-1	FAM135A	0.334525929	0.003141921	Unclassified	BrainSpLMD|57579	
EN-V1-1	FAM21C	0.365794268	0.003274101			
EN-V1-1	CETN3	0.406770115	0.003276165	Calcium binding protein	BrainSpLMD|1070;Eurexp|euxassay_004982|4th ventricle, adenohypophysis, cervical, cervico-thoracic, clavicle, dorsal root ganglion, glossopharyngeal IX, inner ear, liver, lung, mantle layer, metanephros, naris, olfactory, orbito-sphenoid, pharyngo-tympanic tube, respiratory, retina, submandibular gland primordium, tail, thoracic, thymus primordium, thyroid, tongue, trigeminal V, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|602907
EN-V1-1	MARS	0.254637012	0.003308605	Enzyme: Ligase	BrainSpLMD|4141	OMIM|156560;HPO|4141|Alveolar proteinosis, Aminoaciduria, Anemia, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Clubbing, Cough, Decreased liver function, Distal sensory impairment, Dyspnea, Elevated hepatic transaminases, Failure to thrive, Foot dorsiflexor weakness, Hepatic steatosis, Hepatomegaly, Hypothyroidism, Interstitial pulmonary abnormality, Peripheral axonal neuropathy, Progressive, Respiratory insufficiency, Slow progression, Steppage gait, Variable expressivity
EN-V1-1	DDOST	0.297990077	0.00334297	Enzyme: Galactosyltransferase	BrainSpLMD|1650	OMIM|602202;HPO|1650|Abnormality of the coagulation cascade, Accelerated skeletal maturation, Autosomal recessive inheritance, CNS hypomyelination, Constipation, Decreased liver function, Elevated hepatic transaminases, Esotropia, Failure to thrive, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Infantile onset, Neurodevelopmental delay, Neurological speech impairment, Oromotor apraxia, Osteopenia, Recurrent ear infections, Seizures, Short stature, Strabismus, Tremor, Type I transferrin isoform profile
EN-V1-1	MECP2	0.287676964	0.003352839	DNA binding protein	BrainSpLMD|4204;Eurexp|euxassay_018349|dorsal root ganglion	SFARI||Autism, 2 - Strong candidate;OMIM|300005;HPO|4204|Abnormal T-wave, Abnormality of chromosome segregation, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of the antitragus, Abnormality of the dentition, Abnormality of the fingernails, Abnormality of the metacarpal bones, Absent speech, Anxiety, Aplasia/Hypoplasia of the cerebellum, Apnea, Apraxia, Ataxia, Autism, Autistic behavior, Babinski sign, Blepharophimosis, Brachycephaly, Bruxism, Cachexia, Camptodactyly of finger, Central hypoventilation, Cerebral cortical atrophy, Chorea, Choreoathetosis, Clinodactyly of the 5th finger, Congenital onset, Constipation, Cryptorchidism, Delayed skeletal maturation, Delayed speech and language development, Dementia, Depressed nasal bridge, Depressivity, Developmental regression, Drooling, Dysphagia, Dysphasia, Dystonia, EEG abnormality, Encephalopathy, Epicanthus, Everted lower lip vermilion, Excessive salivation, Facial hypotonia, Failure to thrive, Feeding difficulties in infancy, Fine hair, Gait apraxia, Gait ataxia, Gait disturbance, Gastroesophageal reflux, Global developmental delay, Hearing impairment, Hernia of the abdominal wall, High palate, Hyperreflexia, Hypospadias, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, mild, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Intermittent hyperventilation, Kyphosis, Long philtrum, Low-set ears, Macrocephaly, Macroorchidism, Macrotia, Malar flattening, Microcephaly, Micrognathia, Midface retrusion, Motor deterioration, Muscular hypotonia of the trunk, Myoclonus, Narrow mouth, Nephrolithiasis, Neurological speech impairment, Parkinsonism, Pectus excavatum, Pes cavus, Polymicrogyria, Poor eye contact, Postnatal microcephaly, Progressive, Progressive microcephaly, Progressive spasticity, Prolonged QTc interval, Psychosis, Ptosis, Recurrent respiratory infections, Respiratory insufficiency, Rigidity, Scoliosis, Seizures, Severe global developmental delay, Short foot, Short neck, Short stature, Shuffling gait, Skeletal muscle atrophy, Slow progression, Spastic gait, Spasticity, Stereotypy, Tented upper lip vermilion, Thick vermilion border, Tremor, Truncal ataxia, Underdeveloped nasal alae, Ventriculomegaly, Wide mouth, Wide nose, X-linked dominant inheritance, X-linked recessive inheritance
EN-V1-1	HEATR5B	0.345582531	0.003389138	Unclassified		
EN-V1-1	STAM	0.264615558	0.003402184	Adapter molecule	BrainSpLMD|8027	OMIM|601899
EN-V1-1	RHBDD2	0.390920393	0.003418531	Integral membrane protein	BrainSpLMD|57414	OMIM|615203
EN-V1-1	KBTBD7	0.982315194	0.003450582	Unclassified	BrainSpLMD|84078	OMIM|617739
EN-V1-1	PPWD1	0.26832873	0.003463804	Unclassified	BrainSpLMD|23398	
EN-V1-1	ZNF493	0.47189256	0.003592294	DNA binding protein	BrainSpLMD|284443	
EN-V1-1	DIP2C	0.424360441	0.003614588	Unclassified	BrainSpLMD|22982	SFARI||Autism, 2 - Strong candidate;OMIM|611380
EN-V1-1	PRKCI	0.366130756	0.003743022	Serine/threonine kinase	BrainSpLMD|5584;Eurexp|euxassay_018760|bladder, epithelium, incisor, left lung, midgut, molar, olfactory, oral epithelium, right lung, stomach, submandibular gland primordium, thymus primordium, trachea, urethra	OMIM|600539
EN-V1-1	NLGN2	0.488267318	0.003772706	Integral membrane protein	BrainSpLMD|57555	SFARI||Autism, No category;OMIM|606479
EN-V1-1	TMBIM4	0.446647435	0.004084822	Integral membrane protein;Unclassified	BrainSpLMD|51643;Eurexp|euxassay_009275|embryo	OMIM|616874
EN-V1-1	ZMPSTE24	0.283459387	0.00424209	Metallo protease	BrainSpLMD|10269	OMIM|606480;HPO|10269|Abnormal cellular phenotype, Abnormal trabecular bone morphology, Abnormality of the dentition, Abnormality of the fingertips, Abnormality of the neck, Abnormality of the pinna, Absence of pubertal development, Absent eyelashes, Acroosteolysis of distal phalanges (feet), Adrenal hypoplasia, Alopecia, Aminoaciduria, Angina pectoris, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Aplastic clavicles, Arteriosclerosis of small cerebral arteries, Arthrogryposis multiplex congenita, Atrial septal defect, Autosomal recessive inheritance, Bilateral coxa valga, Bird-like facies, Blepharophimosis, Brittle hair, Broad-based gait, Calcinosis, Choanal atresia, Congenital pseudoarthrosis of the clavicle, Convex nasal ridge, Craniofacial disproportion, Cyanosis, Decreased adipose tissue around neck, Decreased calvarial ossification, Decreased fetal movement, Decreased serum estradiol, Decreased skull ossification, Decreased testosterone in males, Delayed cranial suture closure, Delayed eruption of teeth, Dental crowding, Dermal atrophy, Dermal translucency, Downslanted palpebral fissures, Entropion, Epidermal hyperkeratosis, Failure to thrive, Flexion contracture, Generalized hyperkeratosis, Generalized lipodystrophy, Glucose intolerance, Hepatic steatosis, Heterogeneous, High palate, High pitched voice, Hydropic placenta, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypermetropia, Hyperphosphatemia, Hyperpigmentation of the skin, Hypertelorism, Hypertension, Hypodontia, Hypogonadotrophic hypogonadism, Hypohidrosis, Hypoplasia of teeth, Hypoplastic facial bones, Hypoplastic nipples, Hypospadias, Hypotrichosis, Increased anterioposterior diameter of thorax, Infertility, Insulin resistance, Insulin-resistant diabetes mellitus, Intermittent claudication, Intrauterine growth retardation, Joint stiffness, Keratoconjunctivitis sicca, Kyphoscoliosis, Kyphosis, Lack of skin elasticity, Large fontanelles, Lipoatrophy, Loss of facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Loss of truncal subcutaneous adipose tissue, Low-set ears, Macrotia, Metaphyseal widening, Micrognathia, Mottled pigmentation, Multiple joint contractures, Nail dysplasia, Nail dystrophy, Narrow mouth, Narrow nasal ridge, Narrow nasal tip, Nasal speech, Natal tooth, Osteoarthritis, Osteolytic defects of the distal phalanges of the hand, Osteopenia, Osteoporosis, Overtubulated long bones, Ovoid vertebral bodies, Patent ductus arteriosus, Polyhydramnios, Premature birth, Premature coronary artery disease, Premature delivery because of cervical insufficiency or membrane fragility, Premature graying of hair, Premature loss of teeth, Premature rupture of membranes, Progeroid facial appearance, Progressive clavicular acroosteolysis, Prolonged prothrombin time, Prominent forehead, Prominent scalp veins, Prominent superficial blood vessels, Proptosis, Pulmonary hypoplasia, Reticulated skin pigmentation, Rocker bottom foot, Scaling skin, Sensorineural hearing impairment, Short clavicles, Short distal phalanx of finger, Short nail, Short nose, Short palpebral fissure, Short phalanx of finger, Short stature, Short umbilical cord, Skin erosion, Small placenta, Sparse and thin eyebrow, Sparse eyebrow, Sparse eyelashes, Sparse hair, Sparse or absent eyelashes, Stiff skin, Stillbirth, Structural foot deformity, Submucous cleft hard palate, Tapering pointed ends of distal finger phalanges, Telecanthus, Temporomandibular joint ankylosis, Thin bony cortex, Thin clavicles, Thin nail, Thin ribs, Thin skin, Thin vermilion border, Thrombocytosis, Ureteral duplication, Widely patent fontanelles and sutures, Wormian bones
EN-V1-1	PSMA5	0.553235113	0.004267872	Ubiquitin proteasome system protein	BrainSpLMD|5686	OMIM|176844
EN-V1-1	CCDC144B	0.30804417	0.004280343	Unclassified		
EN-V1-1	MAP1LC3B	0.316265099	0.004407775	Unclassified	BrainSpLMD|81631	OMIM|609604
EN-V1-1	WDR70	0.353831459	0.004542364	Unclassified	BrainSpLMD|55100	OMIM|617233
EN-V1-1	DDX21	0.334632565	0.004552778	ATPase	BrainSpLMD|9188;Eurexp|euxassay_005701|embryo	OMIM|606357
EN-V1-1	RGS17	0.457441636	0.004702795	GTPase activating protein	BrainSpLMD|26575	OMIM|607191
EN-V1-1	VPS13D	0.285403079	0.004737745	Transport/cargo protein	BrainSpLMD|55187	OMIM|608877
EN-V1-1	MADD	0.503558734	0.004754646	Adapter molecule	BrainSpLMD|8567;Eurexp|euxassay_012746|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|603584
EN-V1-1	GMFB	0.339394548	0.00483654	Growth factor	BrainSpLMD|2764	OMIM|601713
EN-V1-1	MEMO1	0.603612005	0.004909301	Unclassified	BrainSpLMD|51072	OMIM|611786
EN-V1-1	DNAJC10	0.384229712	0.004956793	Unclassified	BrainSpLMD|54431	OMIM|607987
EN-V1-1	USP25	0.404045168	0.005042987	Ubiquitin proteasome system protein	BrainSpLMD|29761;Eurexp|euxassay_005253|dorsal root ganglion, liver, naris, olfactory, respiratory, submandibular gland primordium, thymus primordium, trigeminal V	OMIM|604736
EN-V1-1	RAB14	0.460179808	0.005053647	GTPase	BrainSpLMD|51552	OMIM|612673
EN-V1-1	C2CD3	0.326233378	0.005064929	Unclassified	BrainSpLMD|26005	OMIM|615944;HPO|26005|Abnormal facial shape, Absent speech, Aplasia of the epiglottis, Autosomal recessive inheritance, Bifid tongue, Cleft palate, Congenital onset, Hamartoma of tongue, Hypoplasia of the corpus callosum, Increased number of teeth, Intellectual disability, Intellectual disability, severe, Lobulated tongue, Microcephaly, Micropenis, Molar tooth sign on MRI, Postaxial polydactyly, Telecanthus, Trigonocephaly, Upslanted palpebral fissure
EN-V1-1	RP4.756H11.5	0.450382257	0.005096078			
EN-V1-1	RPRD1A	0.42678687	0.005226738	Unclassified	BrainSpLMD|55197;Eurexp|euxassay_001211|calyces, dorsal root ganglion, submandibular gland primordium	OMIM|610347
EN-V1-1	ZNF583	0.338827009	0.005259119	Transcription regulatory protein	BrainSpLMD|147949	
EN-V1-1	CDK12	0.410047342	0.005351336	Serine/threonine kinase	BrainSpLMD|51755	OMIM|615514;COSMIC||serous ovarian
EN-V1-1	AKAP6	0.258199412	0.005855721	Anchor protein	BrainSpLMD|9472;Eurexp|euxassay_011440|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, meninges, neural retina, olfactory, skeletal muscle, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vomeronasal organ	OMIM|604691
EN-V1-1	PARP6	0.55016684	0.006284906	DNA repair protein	BrainSpLMD|56965;Eurexp|euxassay_012100|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
EN-V1-1	CSNK1G1	0.564973489	0.00629438	Serine/threonine kinase	BrainSpLMD|53944;BrainSpMouseDev|84736	OMIM|606274
EN-V1-1	KIF1A	0.300376704	0.006300069	Motor protein	BrainSpLMD|547;Eurexp|euxassay_016778|alar plate, basal plate, cerebellum, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601255;HPO|547|Abnormal cortical bone morphology, Abnormality of epiphysis morphology, Abnormality of eye movement, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of the ankles, Abnormality of the eye, Abnormality of the hip bone, Abnormality of the knee, Abnormality of the palate, Abnormality of upper lip, Acral ulceration leading to autoamputation of digits, Anhidrosis, Ankle clonus, Anteverted nares, Areflexia, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Biparietal narrowing, Cerebellar atrophy, Cerebral cortical atrophy, Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Decreased taste sensation, Drowsiness, Dysmetria, Dystrophic fingernails, Dystrophic toenail, Edema of the lower limbs, Epicanthus, Episodic hyperhidrosis, External ear malformation, Feeding difficulties, Feeding difficulties in infancy, Foot acroosteolysis, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hydrocephalus, Hyperhidrosis, Hyperlordosis, Hyperreflexia, Hyporeflexia, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, severe, Limitation of joint mobility, Lower limb amyotrophy, Lower limb muscle weakness, Lower limb spasticity, Macrotia, Malar flattening, Microcephaly, Midface retrusion, Open mouth, Optic atrophy, Osteolytic defects of the phalanges of the hand, Painless fractures due to injury, Palpebral edema, Paronychia, Peripheral axonal neuropathy, Peripheral edema, Peripheral neuropathy, Porencephalic cyst, Progressive, Recurrent respiratory infections, Reduced bone mineral density, Severe muscular hypotonia, Short nose, Skeletal muscle atrophy, Slow progression, Spastic gait, Spastic paraplegia, Tapered finger, Urinary bladder sphincter dysfunction, Variable expressivity, Ventriculomegaly, Visual loss, Wormian bones
EN-V1-1	UQCRFS1	0.266082499	0.006307072	Enzyme: Reductase	BrainSpLMD|7386	OMIM|191327
EN-V1-1	CSE1L	0.290347393	0.006378465	Transport/cargo protein	BrainSpLMD|1434;Eurexp|euxassay_000112|cortex, gland, glossopharyngeal IX, incisor, liver, lung, metanephros, physiological umbilical hernia, submandibular gland primordium, thymus primordium, trigeminal V, turbinate bones, vagus X, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|601342
EN-V1-1	GATC	0.338735066	0.006408216	Unclassified	BrainSpLMD|283459	OMIM|617210
EN-V1-1	SLC38A9	0.357681709	0.006456438	Unclassified	BrainSpLMD|153129	OMIM|616203
EN-V1-1	THADA	0.364587232	0.006533815	Unclassified	BrainSpLMD|63892	OMIM|611800
EN-V1-1	RP11.282K24.3	0.411996018	0.00654464			
EN-V1-1	FOXK1	0.397627029	0.006569044	Transcription factor	Eurexp|euxassay_010907|floor plate, floorplate, mantle layer;BrainSpMouseDev|17193	OMIM|616302
EN-V1-1	MRPS33	0.520876615	0.006577232	Ribosomal subunit	BrainSpLMD|51650	OMIM|611993
EN-V1-1	KIAA1432	0.507486821	0.00694542			
EN-V1-1	HYDIN	0.283534062	0.0069784	Unclassified	BrainSpLMD|54768;Eurexp|euxassay_013571|choroid invagination, choroid plexus, roof plate	SFARI||Autism, 4 - Minimal evidence;OMIM|610812;HPO|54768|Autosomal recessive inheritance, Bronchiectasis, Ciliary dyskinesia, Infantile onset, Nasal polyposis, Recurrent bronchitis, Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Respiratory insufficiency due to defective ciliary clearance, Rhinitis
EN-V1-1	POLR3E	0.417351004	0.00730205	RNA polymerase	BrainSpLMD|55718;Eurexp|euxassay_003027|calyces, chondrocranium, foregut-midgut junction, hindgut, midgut, stomach, submandibular gland primordium	
EN-V1-1	KIAA1191	0.263068178	0.00748946	Unclassified	BrainSpLMD|57179;Eurexp|euxassay_011470|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	
EN-V1-1	SEPT7P9	0.256698186	0.007511641			
EN-V1-1	MRPL27	0.374021917	0.007575011	Ribosomal subunit	BrainSpLMD|51264	OMIM|611837
EN-V1-1	RASA4	0.40090026	0.007605434	GTPase activating protein	BrainSpLMD|10156	OMIM|607943
EN-V1-1	UBTF	0.52968236	0.007669274	Transcription factor	BrainSpLMD|7343;BrainSpMouseDev|21190	OMIM|600673
EN-V1-1	INTS10	0.258071591	0.00776407	Unclassified	BrainSpLMD|55174;Eurexp|euxassay_001760|mantle layer, marginal layer	OMIM|611353
EN-V1-1	ATP1B1	0.301146526	0.007831871	ATPase	BrainSpLMD|481;Eurexp|euxassay_014734|adenohypophysis, alar columns, atrium, autonomic, basal columns, basal plate, body, calyces, cardiac muscle, cerebellum, cerebral cortex, choroid plexus, collecting ducts, corpus striatum, cortex, cortical region, diencephalic part of interventricular foramen, dorsal root ganglion, duodenum, endocardial cushion tissue, endocardial tissue, epithalamus, epithelium, excretory component, extraembryonic component, facial VII, forebrain, fundus, ganglion, gastro-oesophageal junction, glossopharyngeal IX, head, heart, hindbrain, hindgut, hypogastric plexus, hypothalamus, infundibulum, interventricular groove, intraventricular portion, laryngeal, lateral wall, lower, lumen, lung, mantle layer, marginal layer, median eminence, medulla oblongata, medullary tubules, metanephros, midbrain, midgut, nasal septum, neurohypophysis, olfactory, pancreas, pars anterior, pars intermedia, pars nervosa, pars tuberalis, pericardium, physiological umbilical hernia, pituitary, pons, pyloric antrum, pyloric region, respiratory, respiratory system, respiratory tract, rest of alar plate, rostral part, stomach, sulcus limitans, sympathetic, tail, tegmentum, telencephalon, testis, thalamus, thoracic, trigeminal V, turbinate bones, upper, vagus X, ventricular layer, vestibulocochlear VIII, visceral organ	OMIM|182330
EN-V1-1	GTF2H2	0.272035375	0.007861269	Transcription factor	Eurexp|euxassay_019537|incisor, liver, lung, metanephros, midgut, pancreas, submandibular gland primordium, thymus primordium, vibrissa	OMIM|601748
EN-V1-1	ZNF519	0.383035389	0.008029502	DNA binding protein	BrainSpLMD|162655;Eurexp|euxassay_004420|olfactory	
EN-V1-1	GPATCH2	0.492594336	0.008190298	RNA binding protein	BrainSpLMD|55105	OMIM|616836
EN-V1-1	IDH3G	0.436955297	0.008665124	Enzyme: Dehydrogenase	BrainSpLMD|3421	OMIM|300089
EN-V1-1	YIPF3	0.36293706	0.008712569	Integral membrane protein	BrainSpLMD|25844	OMIM|609775
EN-V1-1	ASNSD1	0.323509078	0.009458078	Unclassified	BrainSpLMD|54529;Eurexp|euxassay_004908|cavities and their linings, limb, organ system, tail, vertebral axis muscle system	
EN-V1-1	IFNAR1	0.409037201	0.009465514	Cytokine receptor	BrainSpLMD|3454;Eurexp|euxassay_010150|left, right	OMIM|107450
EN-V1-1	RRN3P1	0.254467049	0.009654781			
EN-V1-1	EBNA1BP2	0.28807466	0.009957913	Unclassified	BrainSpLMD|10969	OMIM|614443
EN-V1-2	SATB2	2.018893762	0	Transcription regulatory protein	BrainSpLMD|23314;Eurexp|euxassay_018949|axial skeleton, clavicle, femur, fibula, humerus, intermediate grey horn, laryngeal, larynx, mandible, mantle layer, maxilla, mesenchyme, orbito-sphenoid, palatal shelf, pelvic girdle, rib, scapula, shoulder, tibia;BrainSpMouseDev|84457	SFARI||Autism, 4 - Minimal evidence;OMIM|608148;HPO|23314|Aggressive behavior, Arachnodactyly, Autosomal dominant inheritance, Broad-based gait, Bulbous nose, Camptodactyly, Cleft palate, Conical tooth, Delayed speech and language development, Dental crowding, Downslanted palpebral fissures, Feeding difficulties, Fine hair, Frontal bossing, Global developmental delay, Happy demeanor, High forehead, High palate, Hyperactivity, Inguinal hernia, Intellectual disability, Intellectual disability, severe, Long face, Long nose, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Midface retrusion, Muscular hypotonia, Nail dysplasia, Narrow mouth, Narrow nose, Oligodontia, Prominent nasal bridge, Seizures, Short stature, Smooth philtrum, Sparse hair, Talipes equinovarus, Thin skin, Thin vermilion border
EN-V1-2	NEFM	1.994928652	0	Structural protein	BrainSpLMD|4741;Eurexp|euxassay_009463|basal plate, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lip, mantle layer, marginal layer, midgut, neural retina, pons, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|162250
EN-V1-2	KIAA0319	1.913120669	0	Integral membrane protein	BrainSpLMD|9856;Eurexp|euxassay_011052|dorsal root ganglion, olfactory	OMIM|609269
EN-V1-2	TMOD1	1.894409119	0	Cytoskeletal associated protein	BrainSpLMD|7111;Eurexp|euxassay_011803|cochlea, extrinsic ocular muscle, lens, saccule, skeletal muscle, utricle, ventricle, vertebral axis muscle system	OMIM|190930
EN-V1-2	DOK5	1.822199192	0	Adapter molecule	BrainSpLMD|55816	OMIM|608334
EN-V1-2	FAM19A1	1.811431994	0	Chemokine	BrainSpLMD|407738	OMIM|617495
EN-V1-2	SYT4	1.798068364	0	Calcium binding protein	BrainSpLMD|6860	OMIM|600103
EN-V1-2	KCNK2	1.782073483	0	Ion channel;Membrane transport protein	BrainSpLMD|3776;Eurexp|euxassay_000689|limb, olfactory, ventral grey horn, ventricular layer;BrainSpMouseDev|16299	OMIM|603219
EN-V1-2	GPR85	1.771841937	0	G protein coupled receptor	BrainSpLMD|54329;Eurexp|euxassay_005306|axial skeleton, brain, glossopharyngeal IX, neural retina, skeletal muscle, spinal cord, stroma, trachea, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|605188
EN-V1-2	SATB2.AS1	1.763144462	0			
EN-V1-2	CTD.2636A23.2	1.745700553	0			
EN-V1-2	MCTP1	1.742105824	0	Calcium binding protein	BrainSpLMD|79772	OMIM|616296
EN-V1-2	NKAIN2	1.699164864	0	Integral membrane protein	BrainSpLMD|154215	OMIM|609758
EN-V1-2	KIAA1244	1.695669676	0			
EN-V1-2	KIF26B	1.665816222	0	Unclassified	BrainSpLMD|55083;Eurexp|euxassay_016415|dorsal root ganglion, extrinsic ocular muscle, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, metanephros, nasal septum, penis, trigeminal V, ventral grey horn	OMIM|614026
EN-V1-2	RNF182	1.665729361	0	Ubiquitin proteasome system protein	BrainSpLMD|221687;Eurexp|euxassay_012952|mantle layer, marginal layer, olfactory	
EN-V1-2	LINGO1	1.647173956	0	Unclassified	BrainSpLMD|84894	OMIM|609791
EN-V1-2	RP11.509E10.1	1.645236682	0			
EN-V1-2	GLRA2	1.620698458	0	Extracellular ligand gated channel	BrainSpLMD|2742;Eurexp|euxassay_006123|brain, spinal cord;BrainSpMouseDev|88304	SFARI||Autism, 5 - Hypothesized but untested;OMIM|305990
EN-V1-2	GABRB2	1.593966123	0	Integral membrane protein	BrainSpLMD|2561;Eurexp|euxassay_014215|mantle layer;BrainSpMouseDev|14177	OMIM|600232
EN-V1-2	AKAP7	1.581135038	0	Anchor protein	BrainSpLMD|9465	OMIM|604693
EN-V1-2	CAMK2B	1.539660755	0	Serine/threonine kinase	BrainSpLMD|816;Eurexp|euxassay_009572|brain, calyces, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, extraembryonic component, facial VII, glossopharyngeal IX, mesenchyme, midgut, neural retina, olfactory, paraxial mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|607707
EN-V1-2	MEF2C	1.532799267	0	Transcription regulatory protein	BrainSpLMD|4208;Eurexp|euxassay_018172|axial skeleton, clavicle, diaphragm, dorsal grey horn, glossopharyngeal IX, incisor, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metatarsus, orbito-sphenoid, phalanx, rest of mesenchyme, rib, skeletal muscle, trigeminal V, vault of skull, vertebral axis muscle system, vibrissa;BrainSpMouseDev|17029	SFARI||Autism, 4 - Minimal evidence;OMIM|600662;HPO|4208|Anteverted nares, Autistic behavior, Autosomal dominant inheritance, Broad forehead, Delayed speech and language development, Depressed nasal bridge, Downturned corners of mouth, Generalized hypotonia, High forehead, Hypertelorism, Hypoplasia of the corpus callosum, Inability to walk, Intellectual disability, severe, Low-set ears, Motor delay, Muscular hypotonia, Poor eye contact, Seizures, Short chin, Short nose, Short philtrum, Sporadic, Stereotypy, Upslanted palpebral fissure, Ventriculomegaly
EN-V1-2	MCUR1	1.52731533	0	Unclassified	BrainSpLMD|63933	OMIM|616952
EN-V1-2	DAB1	1.512775993	0	Adapter molecule	BrainSpLMD|1600;Eurexp|euxassay_017879|basal columns, footplate, lip, mantle layer, maxilla, mesenchyme, naris, ventricular layer;BrainSpMouseDev|12911	SFARI||Autism, 5 - Hypothesized but untested;OMIM|603448;HPO|1600|Ataxia, Autosomal dominant inheritance, Dysarthria, Frequent falls, Slow progression, Unsteady gait
EN-V1-2	LIMCH1	1.490017689	0	Unclassified	BrainSpLMD|22998	OMIM|617750
EN-V1-2	BHLHE22	1.481512477	0	Unclassified	BrainSpLMD|27319;BrainSpMouseDev|37621	OMIM|613483
EN-V1-2	RP11.981G7.6	1.468138498	0			
EN-V1-2	ABLIM1	1.454172216	0	Cytoskeletal associated protein	BrainSpLMD|3983	OMIM|602330
EN-V1-2	MSRA	1.426867228	0	Enzyme: Reductase	BrainSpLMD|4482	OMIM|601250
EN-V1-2	RP11.212F11.1	1.402799745	0			
EN-V1-2	NCALD	1.400134013	0	Calcium binding protein	BrainSpLMD|83988;Eurexp|euxassay_005524|cervical, cervico-thoracic, dorsal root ganglion, forebrain, hindbrain, midbrain, spinal cord, thoracic, trigeminal V, vagus X, vibrissa	OMIM|606722
EN-V1-2	AC018643.4	1.382916634	0			
EN-V1-2	ADRA2A	1.344594386	0	G protein coupled receptor	BrainSpLMD|150;Eurexp|euxassay_010849|basisphenoid bone, mantle layer, marginal layer, naris, nasal capsule, olfactory, ventral grey horn;BrainSpMouseDev|11338	OMIM|104210
EN-V1-2	DLG2	1.335001865	0	Cell junction protein	BrainSpLMD|1740;Eurexp|euxassay_011686|cervical, cervico-thoracic, dorsal root ganglion, mandible, mantle layer, marginal layer, maxilla, thoracic, trigeminal V, ventral grey horn	OMIM|603583
EN-V1-2	SOBP	1.325825396	0	Unclassified	BrainSpLMD|55084	OMIM|613667;HPO|55084|Autosomal recessive inheritance, Delayed speech and language development, Global developmental delay, Intellectual disability, severe, Open bite, Poor speech, Short attention span
EN-V1-2	ARPP21	1.307147266	0		BrainSpLMD|10777;Eurexp|euxassay_008422|brain, diaphragm, dorsal grey horn, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, head mesenchyme, lip, mantle layer, marginal layer, mesenchyme, olfactory, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, spinal cord, tail, thymus primordium, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|605488
EN-V1-2	VLDLR	1.306004569	0	Cell surface receptor	BrainSpLMD|7436;Eurexp|euxassay_018469|clavicle, cortex, ductus deferens, incisor, mandible, mantle layer, marginal layer, maxilla, neural retina, olfactory, orbito-sphenoid, rib, ureter, ventral grey horn, ventricular layer, vomeronasal organ, wall	SFARI||Autism, 5 - Hypothesized but untested;OMIM|192977;HPO|7436|Abnormality of metabolism/homeostasis, Ataxia, Autosomal recessive inheritance, Broad-based gait, Cataract, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral palsy, Congenital onset, Cortical gyral simplification, Delayed speech and language development, Dysarthria, Dysdiadochokinesis, Dysmetria, Gait ataxia, Gait disturbance, Gaze-evoked nystagmus, Generalized hypotonia, Global developmental delay, Hyperreflexia, Hypoplasia of the brainstem, Intellectual disability, Intention tremor, Muscular hypotonia, Nonprogressive, Pachygyria, Pes planus, Poor speech, Seizures, Short stature, Skeletal muscle atrophy, Strabismus, Truncal ataxia
EN-V1-2	KIAA1377	1.304117534	0			
EN-V1-2	FAM124A	1.291616184	0	Unclassified	BrainSpLMD|220108	
EN-V1-2	FAT3	1.285229024	0	Integral membrane protein	Eurexp|euxassay_015982|axial muscle, clavicle, cortex, diaphragm, dorsal root ganglion, exoccipital bone, facial VII, femur, lip, mandible, mantle layer, maxilla, mesenchyme, metatarsus, orbito-sphenoid, pelvic girdle, phalanx, rib, saccule, skeletal muscle, sternum, thymus primordium, trigeminal V, urethra, vault of skull, ventricular layer, vibrissa;BrainSpMouseDev|92930	OMIM|612483;COSMIC||SCC, colon adenocarcinoma, gastric adenocarcinoma
EN-V1-2	SLC44A5	1.285102184	0	Transport/cargo protein	BrainSpLMD|204962;Eurexp|euxassay_019725|floor plate, floorplate, glossopharyngeal IX, lip, mantle layer, marginal layer, trachea, ventral grey horn, ventricular layer	
EN-V1-2	SH3GL3	1.274215799	0	Unclassified	BrainSpLMD|6457	OMIM|603362
EN-V1-2	PRSS12	1.273716683	0	Serine protease	BrainSpLMD|8492;Eurexp|euxassay_015396|head mesenchyme, lower jaw, molar, nasal capsule, upper jaw;BrainSpMouseDev|18905	OMIM|606709;HPO|8492|Autosomal recessive inheritance, Babinski sign, Hyperactive deep tendon reflexes, Intellectual disability, Nystagmus, Strabismus
EN-V1-2	SHISA9	1.264429558	0	Unclassified		OMIM|613346
EN-V1-2	SERPINE2	1.256247417	0	Protease inhibitor	BrainSpLMD|5270;Eurexp|euxassay_007870|axial skeleton, dorsal root ganglion, glossopharyngeal IX, incisor, lip, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metatarsus, nasal septum, penis, phalanx, skeletal muscle, sternum, thymus primordium, trigeminal V, turbinate bones, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|177010
EN-V1-2	FLRT2	1.254253349	0	Adhesion molecule	BrainSpLMD|23768	OMIM|604807
EN-V1-2	NEUROD2	1.25225558	0	Transcription factor	BrainSpLMD|4761;Eurexp|euxassay_013855|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|17780	OMIM|601725
EN-V1-2	MPP6	1.243796698	0	Unclassified	BrainSpLMD|51678	SFARI||Autism, No category;OMIM|606959
EN-V1-2	TENM2	1.225325139	0	Translation regulatory protein		OMIM|610119
EN-V1-2	WWC1	1.223942873	0	Unclassified	BrainSpLMD|23286	OMIM|610533
EN-V1-2	ADCY1	1.211474841	0	Adenylate cyclase	BrainSpLMD|107;Eurexp|euxassay_014209|facial VII, mantle layer, trigeminal V;BrainSpMouseDev|129123	OMIM|103072;HPO|107|Autosomal recessive inheritance, Prelingual sensorineural hearing impairment
EN-V1-2	GUCY1A2	1.208000786	0	Guanylate cyclase	BrainSpLMD|2977	SFARI||Autism, 4 - Minimal evidence;OMIM|601244
EN-V1-2	KHDRBS2	1.190746874	0	RNA binding protein	BrainSpLMD|202559	SFARI||Autism, 4 - Minimal evidence;OMIM|610487
EN-V1-2	EPS8	1.171075723	0	Adapter molecule	BrainSpLMD|2059;Eurexp|euxassay_004434|adrenal gland, lung, mantle layer, marginal layer, mesenchyme, metanephros, midgut, nasal septum, pancreas, rectum, testis, thymus primordium, turbinate bones	SFARI||Autism, No category;OMIM|600206;HPO|2059|Autosomal recessive inheritance, Congenital onset, Profound hearing impairment
EN-V1-2	CAMKV	1.170308896	0	Unclassified	BrainSpLMD|79012;Eurexp|euxassay_007008|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, phalanx, spinal cord	OMIM|614993
EN-V1-2	FAM49A	1.164118961	0	Unclassified	BrainSpLMD|81553;Eurexp|euxassay_007357|mantle layer	
EN-V1-2	TENM4	1.16333591	0	Cell surface receptor		OMIM|610084;HPO|26011|Age-dependent penetrance, Autosomal dominant inheritance, Intention tremor, Postural tremor, Slow progression, Variable expressivity
EN-V1-2	STK32B	1.161491888	0	Serine/threonine kinase	BrainSpLMD|55351;Eurexp|euxassay_011693|exoccipital bone, fibula, footplate, hip, marginal layer, nasal septum, orbito-sphenoid, otic capsule, petrous part, rib, thyroid, tibia, trachea, turbinate, vault of skull, ventral grey horn	
EN-V1-2	DOCK9	1.151821524	0	Guanine nucleotide exchange factor	BrainSpLMD|23348	OMIM|607325
EN-V1-2	GRIN2B	1.145251325	0	Extracellular ligand gated channel	BrainSpLMD|2904;BrainSpMouseDev|14588	SFARI||Autism, 1 - High confidence;OMIM|138252;HPO|2904|Abnormality of skin morphology, Absent speech, Autosomal dominant inheritance, Behavioral abnormality, Developmental regression, EEG abnormality, Epileptic encephalopathy, Generalized hypotonia, Global developmental delay, Hypsarrhythmia, Infantile spasms, Intellectual disability, Myoclonus, Seizures, Variable expressivity
EN-V1-2	PLXNA4	1.136530026	0	Unclassified	BrainSpLMD|91584;Eurexp|euxassay_009720|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X;BrainSpMouseDev|89119	SFARI||Autism, 3 - Suggestive evidence;OMIM|604280
EN-V1-2	ZBTB18	1.135654995	0	Transcription regulatory protein	BrainSpLMD|10472	OMIM|608433;HPO|10472|Abnormality of the pinna, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Depressed nasal bridge, Epicanthus, Generalized hypotonia, Global developmental delay, Hypertelorism, Intellectual disability, Low-set ears, Microcephaly, Micrognathia, Prominent forehead, Round face, Seizures, Short stature, Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Variable expressivity
EN-V1-2	STMN2	1.132482322	0	Cytoskeletal associated protein	BrainSpLMD|11075;Eurexp|euxassay_009268|cervical, cervico-thoracic, dorsal root ganglion, facial VII, footplate, forebrain, glossopharyngeal IX, handplate, hindbrain, hindgut, incisor, lip, midbrain, midgut, neural retina, oesophagus, olfactory, spinal cord, stomach, thoracic, thymus primordium, tongue, trigeminal V, vestibulocochlear VIII, vibrissa, visceral, vomeronasal organ	OMIM|600621
EN-V1-2	PCLO	1.124191347	0	Cytoskeletal protein	BrainSpLMD|27445;Eurexp|euxassay_009714|brain, cervical, cervico-thoracic, olfactory, spinal cord, thoracic;BrainSpMouseDev|26621	OMIM|604918;HPO|27445|Autosomal recessive inheritance, Brachycephaly, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy, Congenital onset, Decreased body weight, Depressed nasal bridge, Downturned corners of mouth, Full cheeks, Global developmental delay, Hearing impairment, High palate, High, narrow palate, Hyperreflexia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Long palpebral fissure, Long philtrum, Low-set ears, Macrotia, Muscular hypotonia of the trunk, Neonatal hypotonia, Optic atrophy, Poor head control, Progressive, Progressive microcephaly, Proptosis, Seizures, Short stature, Spasticity
EN-V1-2	GAP43	1.113319302	0	Growth factor	BrainSpLMD|2596;Eurexp|euxassay_002973|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, midgut, nasal capsule, olfactory, rectum, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|14208	SFARI||Autism, 5 - Hypothesized but untested;OMIM|162060
EN-V1-2	PTPN2	1.101924407	0	Tyrosine phosphatase	BrainSpLMD|5771;Eurexp|euxassay_001391|lower jaw, lung, urethra, ventricle	OMIM|176887;HPO|5771|Antinuclear antibody positivity, Apraxia, Arthralgia, Dental malocclusion, Elevated C-reactive protein level, Elevated erythrocyte sedimentation rate, Iridocyclitis, Joint dislocation, Joint swelling, Juvenile rheumatoid arthritis, Limitation of joint mobility, Polyarticular arthritis
EN-V1-2	CHL1	1.097597237	0	Adhesion molecule	BrainSpLMD|10752;BrainSpMouseDev|12446	OMIM|607416;HPO|10752|Atrioventricular canal defect, Brachycephaly, Cleft palate, Cognitive impairment, Cryptorchidism, Downturned corners of mouth, Epicanthus, Hearing impairment, High palate, Hypertelorism, Intrauterine growth retardation, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscular hypotonia, Postaxial hand polydactyly, Ptosis, Short stature, Telecanthus
EN-V1-2	NELL2	1.09744037	0	Calcium binding protein	BrainSpLMD|4753;Eurexp|euxassay_010538|axial skeleton, brachial plexus, dorsal root ganglion, footplate, handplate, head mesenchyme, incisor, mantle layer, marginal layer, mesenchyme, mesentery, molar, neural retina, olfactory, paraxial mesenchyme, perioptic mesenchyme, peritoneal cavity, rib, ventricular layer	OMIM|602320
EN-V1-2	SCUBE1	1.086049177	0	Secreted polypeptide	BrainSpLMD|80274;BrainSpMouseDev|41281	OMIM|611746
EN-V1-2	PKIA	1.084500026	0	Enzyme regulator	BrainSpLMD|5569;Eurexp|euxassay_018045|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mesenchyme, neural retina, olfactory, spinal cord, stroma, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|606059
EN-V1-2	SEMA3A	1.083678334	0	Ligand	BrainSpLMD|10371;BrainSpMouseDev|20109	OMIM|603961;HPO|10371|Abnormality of the voice, Anosmia, Anterior hypopituitarism, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Delayed puberty, Erectile abnormalities, Hypogonadotrophic hypogonadism, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Reduced bone mineral density
EN-V1-2	SLC8A1	1.071767173	0	Membrane transport protein	BrainSpLMD|6546;Eurexp|euxassay_018859|atrium, brain, olfactory, respiratory, spinal cord, ventricle	OMIM|182305
EN-V1-2	FGF12	1.053720316	0	Growth factor	BrainSpLMD|2257;BrainSpMouseDev|13944	OMIM|601513;HPO|2257|Absent speech, Autosomal dominant inheritance, Cerebellar atrophy, Chronic constipation, Developmental regression, Epileptic encephalopathy, Feeding difficulties, Hypsarrhythmia, Inability to walk, Limb ataxia, Multifocal epileptiform discharges, Muscular hypotonia of the trunk, Poor speech, Status epilepticus, Variable expressivity
EN-V1-2	APLP1	1.051093285	0	Transcription regulatory protein;Unclassified	BrainSpLMD|333;Eurexp|euxassay_005371|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, male, nasal septum, neural retina, olfactory, respiratory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|11590	OMIM|104775
EN-V1-2	HS6ST3	1.049421087	0	Enzyme: Sulphotransferase	BrainSpLMD|266722;Eurexp|euxassay_009084|mantle layer	OMIM|609401
EN-V1-2	STMN4	1.048980139	0	Unclassified	BrainSpLMD|81551	
EN-V1-2	RUNX1T1	1.038665248	0	Transcription regulatory protein	BrainSpLMD|862;Eurexp|euxassay_016597|dorsal grey horn, mantle layer;BrainSpMouseDev|12180	OMIM|133435;COSMIC||AML
EN-V1-2	FRMD3	1.026608341	0	Structural protein	BrainSpLMD|257019	OMIM|607619
EN-V1-2	ITPR1	1.024913945	0	Intracellular ligand gated channel	BrainSpLMD|3708;Eurexp|euxassay_006317|choroid invagination, choroid plexus, roof plate;BrainSpMouseDev|16211	SFARI||Autism, 4 - Minimal evidence;OMIM|147265;HPO|3708|Abnormality of movement, Aniridia, Ataxia, Autosomal recessive inheritance, Cerebellar hypoplasia, Global developmental delay, Hypoplasia of the iris, Intellectual disability, Mask-like facies, Motor delay, Muscular hypotonia, Nystagmus, Postural tremor, Scanning speech, Slurred speech, Visual impairment
EN-V1-2	TSPAN13	1.017229065	0	Integral membrane protein	BrainSpLMD|27075;Eurexp|euxassay_003891|brain, cervical, cervico-thoracic, dorsal root ganglion, ductus deferens, facial VII, fundus region, glossopharyngeal IX, left lung, neural retina, olfactory, physiological umbilical hernia, rectum, right lung, spinal cord, stomach, thoracic, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII	OMIM|613139
EN-V1-2	B3GALT1	1.014814777	0	Enzyme: Galactosyltransferase	BrainSpLMD|8708	OMIM|603093
EN-V1-2	CDKL5	1.011624097	0	Serine/threonine kinase	BrainSpLMD|6792	SFARI||Autism, No category;OMIM|300203;HPO|6792|Abnormality of movement, Abnormality of skin morphology, Abnormality of the antitragus, Abnormality of the fingernails, Abnormality of the metacarpal bones, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Broad forehead, Camptodactyly of finger, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Constipation, Deeply set eye, Developmental regression, EEG abnormality, Epileptic encephalopathy, Fine hair, Gastroesophageal reflux, Generalized hypotonia, Generalized myoclonic seizures, Global developmental delay, Hearing impairment, Hyperventilation, Hypsarrhythmia, Inability to walk, Infantile onset, Infantile spasms, Intellectual disability, Intellectual disability, profound, Long philtrum, Microcephaly, Multifocal seizures, Myoclonus, Nephrolithiasis, Poor eye contact, Progressive microcephaly, Prominent forehead, Scoliosis, Seizures, Short foot, Short palm, Small hand, Spasticity, Stereotypy, Tapered finger, Thick lower lip vermilion, Thick vermilion border, Underdeveloped nasal alae, Ventriculomegaly, Wide mouth, Wide nose, X-linked dominant inheritance
EN-V1-2	LINC01102	1.007357622	0			
EN-V1-2	REEP1	1.00591004	0	Unclassified	BrainSpLMD|65055;Eurexp|euxassay_005277|brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, skeletal muscle, spinal cord, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|609139;HPO|65055|Ankle clonus, Areflexia, Autosomal dominant inheritance, Babinski sign, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Hyporeflexia, Lower limb muscle weakness, Pes cavus, Skeletal muscle atrophy, Spastic gait, Spastic paraplegia, Variable expressivity
EN-V1-2	DACT1	0.999619796	0	Unclassified	BrainSpLMD|51339;Eurexp|euxassay_009577|aorta, associated mesenchyme, capsule, cartilaginous ring, cortex, mantle layer, medullary stroma, mesenchyme, mesentery, midgut, oesophagus;BrainSpMouseDev|37599	OMIM|607861;HPO|51339|Anal atresia, Anencephaly, Anteriorly placed anus, Autosomal dominant inheritance, Bifid uterus, Cervical spina bifida, Clinodactyly of the 5th finger, Constipation, Crossed fused renal ectopia, Cryptorchidism, Cupped ear, External ear malformation, Hearing impairment, Hypospadias, Microtia, Myelomeningocele, Overfolded helix, Pes planus, Preauricular skin tag, Preaxial hand polydactyly, Rectoperineal fistula, Rectovaginal fistula, Renal insufficiency, Scoliosis, Spina bifida occulta, Subcutaneous nodule, Toe clinodactyly, Triphalangeal thumb
EN-V1-2	CAMK4	0.990167046	0	Serine/threonine kinase	BrainSpLMD|814;BrainSpMouseDev|12111	SFARI||Autism, 4 - Minimal evidence;OMIM|114080
EN-V1-2	SLA	0.98762021	0	Adapter molecule	BrainSpLMD|6503	OMIM|601099
EN-V1-2	CXADR	0.986778482	0	Cell surface receptor	BrainSpLMD|1525;Eurexp|euxassay_012371|bladder, cochlea, cortex, endolymphatic duct, epidermis, epithelium, facial VII, glossopharyngeal IX, incisor, larynx, left lung, mantle layer, marginal layer, meninges, mesothelium, metanephros, midgut, molar, neural retina, olfactory, oral epithelium, pancreas, pharyngo-tympanic tube, primitive seminiferous tubules, rectum, right lung, stomach, trachea, trigeminal V, urogenital mesentery, utricle, vagus X, vestibulocochlear VIII, vibrissa	OMIM|602621
EN-V1-2	NEO1	0.985554411	0	Cell surface receptor	BrainSpLMD|4756;Eurexp|euxassay_018461|axial skeleton, diaphragm, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lung, mandible, mantle layer, marginal layer, maxilla, nasal septum, pericardial cavity, turbinate bones, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|17774	SFARI||Autism, 4 - Minimal evidence;OMIM|601907
EN-V1-2	B4GALT5	0.982796217	0	Enzyme: Galactosyltransferase	BrainSpLMD|9334;Eurexp|euxassay_010321|basal columns, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, larynx, mantle layer, olfactory, stomach, trigeminal V, vagus X, valve	OMIM|604016
EN-V1-2	SLC41A2	0.973240586	0	Membrane transport protein	BrainSpLMD|84102	OMIM|610802
EN-V1-2	MAP6	0.965531219	0	Cytoskeletal associated protein	BrainSpLMD|4135;Eurexp|euxassay_000634|cochlear component, dorsal root ganglion, facial VII, inferior, neural retina, olfactory, superior, trigeminal V, vestibular component	OMIM|601783
EN-V1-2	MPPED1	0.958291784	0	Enzyme: Esterase	Eurexp|euxassay_009802|incisor, mantle layer, marginal layer, molar;BrainSpMouseDev|85966	OMIM|602112
EN-V1-2	NKAIN1	0.957584153	0	Integral membrane protein	BrainSpLMD|79570	OMIM|612871
EN-V1-2	MAPT	0.946113913	0	Structural protein	BrainSpLMD|4137;Eurexp|euxassay_002990|calyces, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, hindgut, mantle layer, marginal layer, midbrain, midgut, neural retina, olfactory, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|17529	OMIM|157140;HPO|4137|Abnormal brain FDG positron emission tomography, Abnormal pyramidal signs, Abnormality of the cerebral white matter, Adult onset, Aggressive behavior, Akinesia, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apathy, Apraxia, Autosomal dominant inheritance, Axial dystonia, Blurred vision, Bradykinesia, Collectionism, Dementia, Depressivity, Diplopia, Disinhibition, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphagia, Dysphasia, EEG with continuous slow activity, Echolalia, Emotional blunting, Eyelid apraxia, Falls, Frontal lobe dementia, Frontolimbic dementia, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait imbalance, Gliosis, Grammar-specific speech disorder, Granulovacuolar degeneration, Heterogeneous, Hyperorality, Inappropriate behavior, Inappropriate laughter, Inappropriate sexual behavior, Irritability, Kyphoscoliosis, Lack of insight, Language impairment, Loss of speech, Memory impairment, Morphological abnormality of the pyramidal tract, Mutism, Neurofibrillary tangles, Neuronal loss in central nervous system, Ophthalmoparesis, Parkinsonism, Perseveration, Personality changes, Photophobia, Polyphagia, Poor speech, Primitive reflex, Restlessness, Restrictive behavior, Retrocollis, Rigidity, Spoken Word Recognition Deficit, Sporadic, Stereotypy, Supranuclear gaze palsy, Temporal cortical atrophy, Thickened nuchal skin fold, Tremor
EN-V1-2	TBCB	0.936623514	0	Chaperone	BrainSpLMD|1155	OMIM|601303
EN-V1-2	CACNA2D1	0.936080123	0	Voltage gated channel	BrainSpLMD|781;Eurexp|euxassay_006438|dorsal grey horn, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, pituitary, skeletal muscle, trigeminal V, ventral grey horn, vertebral axis muscle system;BrainSpMouseDev|12078	OMIM|114204;HPO|781|Atrial fibrillation, Bradycardia, Palpitations, Shortened QT interval
EN-V1-2	GPR12	0.929953657	0	G protein coupled receptor	BrainSpLMD|2835;Eurexp|euxassay_005675|cerebral cortex	OMIM|600752
EN-V1-2	TUBB4A	0.920748	0	Cytoskeletal protein	BrainSpLMD|10382;Eurexp|euxassay_018005|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602662
EN-V1-2	UCHL1	0.915589565	0	Ubiquitin proteasome system protein	BrainSpLMD|7345;Eurexp|euxassay_007064|cervical, cervico-thoracic, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, hindgut, incisor, medulla, mesenchyme, midgut, neural retina, olfactory, skeletal muscle, stomach, testis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|191342;HPO|7345|Ankle clonus, Autosomal recessive inheritance, Babinski sign, Cerebellar atrophy, Cerebral atrophy, Dysmetria, Fasciculations, Flexion contracture, Head titubation, Myokymia, Myopia, Neurodegeneration, Nystagmus, Optic atrophy, Pes cavus, Pes planus, Progressive, Progressive visual loss, Spastic paraplegia, Tetraparesis
EN-V1-2	NHSL1	0.913610543	0	Unclassified		
EN-V1-2	FABP7	0.88895498	0	Transport/cargo protein	BrainSpLMD|2173;Eurexp|euxassay_000474|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, rest of cerebellum, trigeminal V, ventral grey horn, ventricular layer	SFARI||Autism, 6 - Evidence does not support role;OMIM|602965
EN-V1-2	NDUFAF2	0.877747949	0	Unclassified	BrainSpLMD|91942	OMIM|609653;HPO|91942|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, CNS demyelination, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Dysarthria, Dystonia, Emotional lability, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Gliosis, Global developmental delay, Growth delay, Hepatic failure, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Phenotypic variability, Pigmentary retinopathy, Progressive, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
EN-V1-2	C1orf115	0.869074329	0	Unclassified	BrainSpLMD|79762	
EN-V1-2	BCL11A	0.860745421	0	DNA binding protein	BrainSpLMD|53335;Eurexp|euxassay_007892|dorsal grey horn, incisor, naris, olfactory, pharyngo-tympanic tube, submandibular gland primordium, vibrissa;BrainSpMouseDev|13802	SFARI||Autism, 2 - Strong candidate;OMIM|606557;COSMIC||B-CLL;HPO|53335|Autosomal dominant inheritance, Congenital onset, Cupped ear, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, Global developmental delay, Intellectual disability, Joint hypermobility, Low-set ears, Microcephaly, Midface retrusion, Overfolded helix, Retrognathia, Strabismus, Thin upper lip vermilion
EN-V1-2	SORL1	0.860698395	0	Integral membrane protein	BrainSpLMD|6653;Eurexp|euxassay_012191|bladder, calyces, epithelium, left lung, mantle layer, midgut, olfactory, pelvis, rectum, right lung, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, ureter, ventricular layer;BrainSpMouseDev|20422	OMIM|602005
EN-V1-2	FRMD4B	0.857577617	0	Unclassified		OMIM|617467
EN-V1-2	ADD2	0.856602392	0	Anchor protein	BrainSpLMD|119;Eurexp|euxassay_000013|alar plate, basal plate, bladder, brain, cerebellum, cerebral cortex, diencephalon, dorsal root ganglion, facial VII, forebrain, ganglion, glossopharyngeal IX, gut, heart, lateral wall, left, liver, lobe, lung, mantle layer, marginal layer, neural retina, olfactory cortex, olfactory lobe, pons, retina, right, submandibular gland primordium, sulcus limitans, telencephalon, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	OMIM|102681
EN-V1-2	PTPRD	0.854841846	0	Receptor tyrosine phosphatase	BrainSpLMD|5789	OMIM|601598
EN-V1-2	CSRP2	0.850917014	0	Adapter molecule	BrainSpLMD|1466;Eurexp|euxassay_016538|aorta, bladder, dorsal grey horn, hindgut, intermediate grey horn, mantle layer, midgut, neural retina, orbito-sphenoid, pancreas, skeletal muscle, stomach, temporal bone, turbinate, vault of skull	OMIM|601871
EN-V1-2	NEUROD6	0.84519583	0	Transcription factor	BrainSpLMD|63974;Eurexp|euxassay_017889|inner ear, mantle layer, olfactory, olfactory lobe;BrainSpMouseDev|11708	OMIM|611513
EN-V1-2	CELF2	0.842412919	0	RNA binding protein	BrainSpLMD|10659;Eurexp|euxassay_015501|brain, spinal cord	OMIM|602538
EN-V1-2	TMEM108	0.838469034	0	Unclassified	BrainSpLMD|66000;Eurexp|euxassay_002435|choroid plexus, lateral recess, marginal layer	OMIM|617361
EN-V1-2	PAK7	0.838042818	0			
EN-V1-2	TMEM150C	0.834566954	0	Unclassified	Eurexp|euxassay_005300|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, rib, thalamus, trigeminal V, ventral grey horn	OMIM|617292
EN-V1-2	JPH4	0.824693711	0	Unclassified	BrainSpLMD|84502;Eurexp|euxassay_007469|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, mesenchyme, midbrain, rest of mesenchyme, spinal cord, telencephalon, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
EN-V1-2	SRGAP1	0.821005431	0	GTPase activating protein	BrainSpLMD|57522	OMIM|606523
EN-V1-2	ANK2	0.806671994	0	Cytoskeletal associated protein	BrainSpLMD|287	SFARI||Autism, 1 - High confidence;OMIM|106410;HPO|287|Atrial fibrillation, Autosomal dominant inheritance, Heterogeneous, Prolonged QT interval, Sinus bradycardia, Sudden cardiac death, Syncope
EN-V1-2	EPHA3	0.804615574	0	Receptor tyrosine kinase	BrainSpLMD|2042;Eurexp|euxassay_018957|axial muscle, clavicle, cranial muscle, extrinsic ocular muscle, floorplate, head mesenchyme, incisor, lip, lung, mantle layer, marginal layer, mesenchyme, molar, naris, palatal shelf, pectoral girdle and thoracic body wall, skeletal muscle, tarsus, thymus primordium, tongue, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|13615	OMIM|179611;COSMIC||lung cancer, CRC, melanoma
EN-V1-2	DNER	0.803071727	0	Cell surface receptor	BrainSpLMD|92737;Eurexp|euxassay_003135|axial skeleton, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, extrinsic ocular muscle, facial VII, foregut-midgut junction, glossopharyngeal IX, head mesenchyme, hindbrain, hindgut, limb, mantle layer, marginal layer, mesenchyme, midbrain, midgut, neural retina, nucleus pulposus, olfactory, penis, skeletal muscle, spinal cord, stomach, stroma, tail, thoracic, tongue, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|86552	SFARI||Autism, 4 - Minimal evidence;OMIM|607299
EN-V1-2	AFF3	0.790047103	0	Transcription factor	BrainSpLMD|3899;BrainSpMouseDev|16536	OMIM|601464;COSMIC||ALL, T-ALL
EN-V1-2	DYNC1I1	0.785642879	0	Motor protein	BrainSpLMD|1780;Eurexp|euxassay_006183|adrenal gland, cortex, diaphragm, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, mantle layer, marginal layer, ovary, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, tegmentum, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|603772
EN-V1-2	NDRG1	0.784110126	0	Unclassified	BrainSpLMD|10397;Eurexp|euxassay_004423|anterior, dorsal root ganglion, external, mandible, marginal layer, meninges, mesenchyme, midgut, naris, nasal septum, olfactory, palatal shelf, pyloric region, rectum, upper jaw	OMIM|605262;COSMIC||prostate;HPO|10397|Abnormal auditory evoked potentials, Abnormality of the hand, Abnormality of visual evoked potentials, Areflexia, Autosomal recessive inheritance, Axonal loss, Decreased nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Gait disturbance, Hearing impairment, Hyporeflexia, Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material, Juvenile onset, Onion bulb formation, Segmental peripheral demyelination/remyelination, Talipes cavus equinovarus
EN-V1-2	LRRC7	0.780651272	0	Cell junction protein	BrainSpLMD|57554;Eurexp|euxassay_009687|brain, spinal cord	SFARI||Autism, No category;OMIM|614453
EN-V1-2	RALGPS1	0.775851258	0	Guanine nucleotide exchange factor	BrainSpLMD|9649	OMIM|614444
EN-V1-2	ST8SIA2	0.775373122	0	Enzyme: Sialyltransferase	BrainSpLMD|8128	SFARI||Autism, No category;OMIM|602546
EN-V1-2	IDS	0.768421003	0	Enzyme: Sulphohydrolase	BrainSpLMD|3423	OMIM|300823;HPO|3423|Abnormality of retinal pigmentation, Abnormality of the heart valves, Asthma, Cervical cord compression, Coarse facial features, Congestive heart failure, Delayed eruption of teeth, Dermatan sulfate excretion in urine, Diarrhea, Dysostosis multiplex, Flexion contracture, Hearing impairment, Heparan sulfate excretion in urine, Hepatomegaly, Hoarse voice, Hydrocephalus, Hypertrichosis, Inguinal hernia, Intellectual disability, profound, Intestinal pseudo-obstruction, Kyphosis, Macrocephaly, Macroglossia, Mild short stature, Neurodegeneration, Obstructive sleep apnea, Papilledema, Pes cavus, Ptosis, Recurrent otitis media, Scaphocephaly, Seizures, Severe short stature, Short neck, Short stature, Splenomegaly, Split hand, Thick lower lip vermilion, Tracheobronchomalacia, Umbilical hernia, Widely spaced teeth, X-linked recessive inheritance
EN-V1-2	FDFT1	0.759672417	0	Enzyme: Synthase	BrainSpLMD|2222;Eurexp|euxassay_005703|calyces, cerebral cortex, cervical, cervico-thoracic, cochlear component, dorsal root ganglion, epithelium, facial VII, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, inferior, inner ear, lens, loop, mantle layer, mesenteric artery, midgut, molar, nucleus pulposus, retina, skeleton, stomach, superior, tegmentum, thoracic, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|184420
EN-V1-2	DISP2	0.759182409	0	Integral membrane protein	BrainSpLMD|85455;Eurexp|euxassay_009571|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, neural retina, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607503
EN-V1-2	NAV2	0.758641989	0	DNA binding protein	BrainSpLMD|89797;Eurexp|euxassay_008549|incisor, mantle layer, marginal layer, molar, neural retina, skeletal muscle, submandibular gland primordium, thymus primordium, ventral grey horn, vertebral axis muscle system, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|607026
EN-V1-2	DPYSL2	0.755860022	0	Cytoskeletal associated protein	BrainSpLMD|1808	OMIM|602463
EN-V1-2	HMGCS1	0.7528776	0	Enzyme: Synthase	BrainSpLMD|3157	OMIM|142940
EN-V1-2	CDH11	0.745166426	0	Cell junction protein	BrainSpLMD|1009;BrainSpMouseDev|12337	SFARI||Autism, No category;OMIM|600023;COSMIC||aneurysmal bone cyst
EN-V1-2	NCS1	0.741348379	0	Calcium binding protein	BrainSpLMD|23413	OMIM|603315
EN-V1-2	RBFOX1	0.738049983	0		BrainSpLMD|54715;Eurexp|euxassay_013824|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, thoracic, trigeminal V	SFARI||Autism, 3 - Suggestive evidence;OMIM|605104
EN-V1-2	SHANK2	0.730821665	0	Structural protein	BrainSpLMD|22941	SFARI||Autism, 2 - Strong candidate;OMIM|603290
EN-V1-2	YWHAG	0.721179337	0	Adapter molecule	BrainSpLMD|7532	OMIM|605356
EN-V1-2	D4S234E	0.718135589	0			
EN-V1-2	CUX2	0.707888071	0	Transcription factor	BrainSpMouseDev|12829	OMIM|610648
EN-V1-2	TMOD2	0.69171946	0	Cytoskeletal associated protein	BrainSpLMD|29767	OMIM|602928
EN-V1-2	YWHAH	0.690664977	0	Adapter molecule	BrainSpLMD|7533;Eurexp|euxassay_007180|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|113508
EN-V1-2	ARPC5	0.67888697	0	Cytoskeletal associated protein	BrainSpLMD|10092;Eurexp|euxassay_005699|embryo	OMIM|604227
EN-V1-2	TTC28	0.676732601	0	Unclassified	BrainSpLMD|23331	OMIM|615098
EN-V1-2	NTRK3	0.676339322	0	Receptor tyrosine kinase	BrainSpLMD|4916;Eurexp|euxassay_017897|corpus striatum, dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|17980	SFARI||Autism, 4 - Minimal evidence;OMIM|191316;COSMIC||congenital fibrosarcoma, secretory breast
EN-V1-2	CCDC23	0.667545249	0			
EN-V1-2	TUBA1A	0.665821421	0	Cytoskeletal protein	BrainSpLMD|7846	OMIM|602529;HPO|7846|Agenesis of corpus callosum, Ataxia, Autosomal dominant inheritance, Cerebellar vermis hypoplasia, Generalized hypotonia, Heterotopia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, severe, Lissencephaly, Microcephaly, Motor delay, Pachygyria, Polymicrogyria, Seizures, Spastic tetraplegia, Ventriculomegaly
EN-V1-2	CDC42	0.652862908	0	GTPase	BrainSpLMD|998;BrainSpMouseDev|12325	OMIM|116952
EN-V1-2	GPM6A	0.652848916	0	Integral membrane protein	BrainSpLMD|2823;Eurexp|euxassay_005521|brain, diaphragm, epithelium, lip, mesenchyme, mesothelium, neural retina, olfactory, pericardial cavity, spinal cord, stroma	OMIM|601275
EN-V1-2	CRMP1	0.652647328	0	Enzyme: Hydrolase	BrainSpLMD|1400;Eurexp|euxassay_006182|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, genital tubercle, glossopharyngeal IX, midgut, neural retina, rectum, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602462
EN-V1-2	RTN1	0.639810422	0	Integral membrane protein	BrainSpLMD|6252;Eurexp|euxassay_003752|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, penis, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|600865
EN-V1-2	SCG5	0.639227242	0	Chaperone	BrainSpLMD|6447;Eurexp|euxassay_007348|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, oesophagus, olfactory, pituitary, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20157	OMIM|173120
EN-V1-2	TMEM35	0.636752842	0			
EN-V1-2	WSB2	0.634323398	0	Ubiquitin proteasome system protein	BrainSpLMD|55884;Eurexp|euxassay_015363|brain, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vestibulocochlear VIII	
EN-V1-2	WIPF3	0.627585352	0	Cytoskeletal associated protein	BrainSpLMD|644150	OMIM|612432
EN-V1-2	CDK5R1	0.626439522	0	Regulatory/other subunit	BrainSpLMD|8851;BrainSpMouseDev|12354	OMIM|603460
EN-V1-2	SCN3B	0.624678382	0	Voltage gated channel	BrainSpLMD|55800;Eurexp|euxassay_012281|cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, midgut, neural retina, olfactory, skeletal muscle, stomach, thoracic, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|608214;HPO|55800|Atrial flutter, Autosomal dominant inheritance, ST segment elevation
EN-V1-2	DRAXIN	0.623243142	0	Unclassified	BrainSpLMD|374946;Eurexp|euxassay_006367|cerebral cortex, dorsal root ganglion, glossopharyngeal IX, lateral wall, mantle layer, marginal layer, meninges, neural retina, pons, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|46274	OMIM|612682
EN-V1-2	MLLT11	0.620546059	0	Unclassified	BrainSpLMD|10962;Eurexp|euxassay_010405|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|604684;COSMIC||ALL;HPO|10962|Autosomal dominant inheritance, Juvenile myelomonocytic leukemia, Somatic mutation
EN-V1-2	RPS15A	0.619694974	0	Ribosomal subunit	BrainSpLMD|6210	OMIM|603674
EN-V1-2	MSMO1	0.619357809	0	Unclassified	BrainSpLMD|6307;Eurexp|euxassay_000744|Meckel's cartilage, adrenal gland, calyces, chondrocranium, dorsal root ganglion, facial VII, foregut-midgut junction, hindgut, incisor, inferior, lobe, mesenchyme, midgut, molar, olfactory, stomach, superior, testis, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|607545;HPO|6307|Arthralgia, Autosomal recessive inheritance, Blepharitis, Congenital cataract, Decreased circulating low-density lipoprotein levels, Delayed puberty, Delayed skeletal maturation, Failure to thrive, Global developmental delay, Hypocholesterolemia, Ichthyosis, Intellectual disability, mild, Microcephaly, Psoriasiform dermatitis, Short stature
EN-V1-2	TUBBP2	0.614056788	0			
EN-V1-2	RAB3A	0.612047267	0	GTPase	BrainSpLMD|5864;BrainSpMouseDev|19102	OMIM|179490
EN-V1-2	KIAA1107	0.607758901	0	Unclassified		
EN-V1-2	CALM1	0.6039235	0	Calcium binding protein	BrainSpLMD|801	OMIM|114180;HPO|801|Autosomal dominant inheritance, Cardiac arrest, Prolonged QT interval, Sudden death, Syncope, Ventricular tachycardia, Vertigo
EN-V1-2	GNG3	0.600833681	0	G protein	BrainSpLMD|2785;Eurexp|euxassay_010359|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608941
EN-V1-2	LETM1	0.598691383	0	Calcium binding protein	BrainSpLMD|3954	OMIM|604407;HPO|3954|Abnormal form of the vertebral bodies, Abnormal sternal ossification, Abnormality of the heart valves, Abnormality of the kidney, Abnormality of the pinna, Absent septum pellucidum, Accessory spleen, Aplasia cutis congenita of scalp, Aplasia/Hypoplasia of the lungs, Arachnodactyly, Ataxia, Atrial septal defect, Autosomal dominant inheritance, Calvarial skull defect, Cavum septum pellucidum, Cleft palate, Cleft upper lip, Congenital diaphragmatic hernia, Convex nasal ridge, Craniofacial asymmetry, Cryptorchidism, Decreased fetal movement, Decreased muscle mass, Delayed skeletal maturation, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Ectopia pupillae, Epicanthus, Failure to thrive, Frontal bossing, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemangioma, High anterior hairline, High forehead, Highly arched eyebrow, Hip dislocation, Hyperconvex fingernails, Hypertelorism, Hypodontia, Hypoplastic pubic rami, Hypospadias, Intellectual disability, severe, Intrauterine growth retardation, Iris coloboma, Kyphosis, Low posterior hairline, Low-set, posteriorly rotated ears, Malrotation of small bowel, Metatarsus adductus, Microcephaly, Micrognathia, Microtia, Muscular hypotonia, Nystagmus, Optic atrophy, Periventricular cysts, Preauricular pit, Preauricular skin tag, Preaxial hand polydactyly, Precocious puberty, Prominent glabella, Proptosis, Pseudoepiphyses of the metacarpals, Ptosis, Radioulnar synostosis, Rib fusion, Rib segmentation abnormalities, Rieger anomaly, Sacral dimple, Scoliosis, Seizures, Severe postnatal growth retardation, Short hallux, Short philtrum, Short stature, Short thumb, Short upper lip, Small for gestational age, Split hand, Sporadic, Stenosis of the external auditory canal, Stereotypy, Strabismus, Talipes equinovarus, Tethered cord, Ventricular septal defect, Ventriculomegaly, Vertebral fusion, Wide nasal bridge
EN-V1-2	EPB41L1	0.567911725	0	Cytoskeletal associated protein	BrainSpLMD|2036;Eurexp|euxassay_016807|arm, cortex, cranium, dermis, glossopharyngeal IX, head mesenchyme, hindgut, incisor, left lung, leg, loop, lumen, mandible, mantle layer, marginal layer, maxilla, mesenchyme, midgut, phalanx, right lung, stomach, trachea, trigeminal V, ventral grey horn, vertebral axis muscle system	OMIM|602879;HPO|2036|Autosomal dominant inheritance
EN-V1-2	SPTAN1	0.565702848	0	Cytoskeletal protein;Structural protein	BrainSpLMD|6709;Eurexp|euxassay_012194|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lens, mantle layer, midgut, neural retina, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|182810;HPO|6709|Abnormality of skin morphology, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Developmental regression, Epileptic encephalopathy, Generalized hypotonia, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, profound, Intellectual disability, severe, Myoclonus, Progressive microcephaly, Seizures, Spastic tetraplegia, Variable expressivity
EN-V1-2	FAM117B	0.56323273	0	Unclassified	BrainSpLMD|150864	
EN-V1-2	KIAA1598	0.560101924	0			
EN-V1-2	NFIX	0.557820762	0	Transcription factor	BrainSpLMD|4784;BrainSpMouseDev|17799	SFARI||Autism, No category;OMIM|164005;HPO|4784|Accelerated skeletal maturation, Advanced eruption of teeth, Agenesis of corpus callosum, Anteverted nares, Anxiety, Astigmatism, Atlantoaxial dislocation, Atrial septal defect, Autosomal dominant inheritance, Blue sclerae, Bullet-shaped middle phalanges of the hand, Cerebral atrophy, Choanal atresia, Choanal stenosis, Coxa valga, Cutis marmorata, Death in childhood, Decreased body weight, Delayed speech and language development, Depressed nasal bridge, Distal widening of metacarpals, Downslanted palpebral fissures, Eclabion, Everted lower lip vermilion, Failure to thrive, Frontal bossing, Generalized hypotonia, Gingival overgrowth, Glossoptosis, Hearing impairment, High forehead, Hypermetropia, Hypoplasia of the odontoid process, Intellectual disability, Irregular dentition, Large sternal ossification centers, Laryngomalacia, Long face, Long fingers, Low-set ears, Macrocephaly, Macrogyria, Malar flattening, Mandibular prognathia, Midface retrusion, Motor delay, Narrow face, Narrow mouth, Nystagmus, Obstructive sleep apnea, Omphalocele, Overfolded helix, Overgrowth, Patent ductus arteriosus, Pectus excavatum, Prominence of the premaxilla, Prominent forehead, Pulmonary arterial hypertension, Recurrent aspiration pneumonia, Retrognathia, Scoliosis, Shallow orbits, Short distal phalanx of finger, Short mandibular rami, Short nose, Short philtrum, Short sternum, Slender long bone, Sporadic, Strabismus, Synophrys, Tall stature, Thick eyebrow, Umbilical hernia, Ventriculomegaly
EN-V1-2	XPR1	0.548004792	0	Integral membrane protein	BrainSpLMD|9213;Eurexp|euxassay_010259|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII	OMIM|605237;HPO|9213|Abnormality of neuronal migration, Adult onset, Autosomal dominant inheritance, Basal ganglia calcification, Cerebral calcification, Choreoathetosis, Corneal opacity, Dementia, Depressivity, Dysarthria, Hepatomegaly, Intrauterine growth retardation, Memory impairment, Microcephaly, Parkinsonism, Progressive, Seizures, Subcutaneous hemorrhage, Thrombocytopenia, Ventriculomegaly
EN-V1-2	CD24	0.54511383	0		BrainSpLMD|100133941;BrainSpMouseDev|12269	OMIM|600074
EN-V1-2	MAP1B	0.539074604	0	Cytoskeletal associated protein	BrainSpLMD|4131;Eurexp|euxassay_009367|brain, facial VII, glossopharyngeal IX, olfactory, peripheral nervous system, retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|157129
EN-V1-2	LPHN3	0.538390605	0			
EN-V1-2	PPP3CA	0.535758949	0	Serine/threonine phosphatase	BrainSpLMD|5530;Eurexp|euxassay_002802|dorsal root ganglion, glossopharyngeal IX, trigeminal V;BrainSpMouseDev|18818	OMIM|114105
EN-V1-2	TUBB2A	0.534911328	0		BrainSpLMD|7280;Eurexp|euxassay_006726|embryo	OMIM|615101;HPO|7280|Autosomal dominant inheritance, Cortical dysplasia, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Seizures, Variable expressivity
EN-V1-2	RTN4	0.529117404	0	Integral membrane protein	BrainSpLMD|57142;Eurexp|euxassay_004344|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mesenchyme, neural retina, olfactory, stroma, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|604475
EN-V1-2	HN1	0.514041175	0			
EN-V1-2	YWHAZ	0.509686628	0	Adapter molecule	BrainSpLMD|7534	OMIM|601288
EN-V1-2	TSC22D1	0.508905447	0	Transcription regulatory protein	BrainSpLMD|8848;BrainSpMouseDev|21566	OMIM|607715
EN-V1-2	SCD	0.502064043	0	Enzyme: Oxidoreductase	BrainSpLMD|6319;Eurexp|euxassay_012236|adrenal gland, axial skeleton, basal columns, cervico-thoracic, clavicle, dorsal root ganglion, ductus deferens, embryo, facial VII, glossopharyngeal IX, hindgut, incisor, larynx, lens, lobe, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, neural retina, nucleus pulposus, orbito-sphenoid, otic capsule, pancreas, petrous part, pharyngo-tympanic tube, pituitary, rectum, rib, skeletal muscle, stomach, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, turbinate, urethra, vagus X, vault of skull, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|604031
EN-V1-2	STMN1	0.501857417	0	Structural protein	BrainSpLMD|3925;Eurexp|euxassay_008627|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|151442
EN-V1-2	MLLT3	0.495678026	0	Unclassified	BrainSpLMD|4300;Eurexp|euxassay_008130|adrenal gland, brain, ear, epithelium, hindgut, incisor, inner ear, lobe, metatarsus, molar, penis, rectum, rib, spinal cord, submandibular gland primordium, vibrissa	OMIM|159558;COSMIC||ALL
EN-V1-2	POU3F2	0.485400495	0	Transcription factor	BrainSpLMD|5454;BrainSpMouseDev|18755	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600494
EN-V1-2	FAM110B	0.479872324	0	Unclassified	BrainSpLMD|90362	OMIM|611394
EN-V1-2	3-Sep	0.47940873	0			
EN-V1-2	NME1	0.475557531	0	Enzyme: Phosphotransferase	BrainSpLMD|4830	OMIM|156490;HPO|4830|Abdominal pain, Abnormality of the thorax, Anemia, Ataxia, Autosomal dominant inheritance, Bone pain, Diarrhea, Elevated urinary dopamine, Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Failure to thrive, Fever, Ganglioneuroblastoma, Ganglioneuroma, Heterogeneous, Horner syndrome, Hypertension, Incomplete penetrance, Myoclonus, Neuroblastoma, Opsoclonus, Skin nodule, Spinal cord compression, Sporadic, Weight loss
EN-V1-2	YWHAB	0.475201165	0	Adapter molecule	BrainSpLMD|7529;Eurexp|euxassay_012917|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn	OMIM|601289
EN-V1-2	TUBBP1	0.475198697	0			
EN-V1-2	MARCKSL1	0.472722822	0	Adapter molecule	BrainSpLMD|65108;BrainSpMouseDev|17125	OMIM|602940
EN-V1-2	SLC38A1	0.469480186	0	Membrane transport protein	BrainSpLMD|81539;Eurexp|euxassay_019706|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, stomach, submandibular gland primordium, testis, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|608490
EN-V1-2	SEZ6L	0.462476813	0	Integral membrane protein	BrainSpLMD|23544;Eurexp|euxassay_009459|brain, neural retina, spinal cord	OMIM|607021
EN-V1-2	DPYSL3	0.460412176	0	Enzyme: Hydrolase	BrainSpLMD|1809;Eurexp|euxassay_010399|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, midbrain, midgut, neural retina, olfactory, stomach, telencephalon, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|601168
EN-V1-2	TNIK	0.447589014	0	Serine/threonine kinase	BrainSpLMD|23043	OMIM|610005;HPO|23043|Autosomal recessive inheritance, Delayed speech and language development, Hyperactivity, Intellectual disability
EN-V1-2	TUBB	0.44729947	0	Cytoskeletal protein	BrainSpLMD|203068	OMIM|191130;HPO|203068|Abnormality of cardiovascular system morphology, Abnormality of the skin, Ataxia, Autosomal dominant inheritance, Blepharophimosis, Brachycephaly, Cerebellar hypoplasia, Cleft palate, Congenital onset, Delayed speech and language development, Edema, Epicanthus, Flat face, Global developmental delay, High palate, Hypertelorism, Hypoplasia of the brainstem, Hypoplastic nipples, Increased number of skin folds, Intellectual disability, Irregular hyperpigmentation, Localized neuroblastoma, Low-set ears, Microcephaly, Motor delay, Narrow mouth, Periorbital fullness, Posteriorly rotated ears, Short neck, Short palpebral fissure, Thickened skin, Wide intermamillary distance
EN-V1-2	KIFAP3	0.446286974	0	Transport/cargo protein	BrainSpLMD|22920;Eurexp|euxassay_012381|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, mesenchyme, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601836
EN-V1-2	EEF1B2	0.443221277	0	Translation regulatory protein	BrainSpLMD|1933	OMIM|600655
EN-V1-2	NCAM1	0.432448206	0	Adhesion molecule	BrainSpLMD|4684;Eurexp|euxassay_014138|bladder, brain, cervical, cervico-thoracic, cortex, dermal component, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, pericardial cavity, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, ureter, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17734	OMIM|116930
EN-V1-2	CD24P4	0.426351965	0			
EN-V1-2	TIAM2	0.425588759	0	Guanine nucleotide exchange factor	BrainSpLMD|26230;BrainSpMouseDev|23752	OMIM|604709
EN-V1-2	BASP1	0.419276538	0	Transcription regulatory protein	BrainSpLMD|10409	OMIM|605940
EN-V1-2	GRIA1	0.413941284	0	Extracellular ligand gated channel	BrainSpLMD|2890;Eurexp|euxassay_018233|mantle layer, neural retina, palatal shelf, saccule;BrainSpMouseDev|14575	SFARI||Autism, 2 - Strong candidate;OMIM|138248
EN-V1-2	PAFAH1B3	0.408819675	0	Enzyme: Acyltransferase	BrainSpLMD|5050	OMIM|603074
EN-V1-2	ICA1L	0.402215817	0	Unclassified	BrainSpLMD|130026	
EN-V1-2	ISLR2	0.401789086	0	Unclassified	BrainSpLMD|57611	OMIM|614179
EN-V1-2	SCG3	0.399185329	0	Secreted polypeptide	BrainSpLMD|29106;Eurexp|euxassay_015685|adrenal gland, autonomic, basal columns, bladder, brain, central nervous system, cerebellum, cerebral cortex, cervical, cervico-thoracic, cranial, diencephalon, dorsal root ganglion, facial VII, forebrain, ganglion, glossopharyngeal IX, gut, heart, hindbrain, intraventricular portion, lateral wall, left lung, lung, mantle layer, marginal layer, maxillary division, medulla, metanephros, midbrain, nerve plexus, neural retina, renal/urinary system, retina, spinal, spinal cord, stomach, sympathetic, telencephalon, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20018	OMIM|611796
EN-V1-2	MN1	0.394114564	0	Cell cycle control protein	BrainSpLMD|4330;Eurexp|euxassay_012879|axial skeleton, head mesenchyme, mantle layer, marginal layer, metacarpus, metatarsus, palatal shelf, phalanx, tarsus, ventral grey horn, ventricular layer, vibrissa	OMIM|156100;COSMIC||AML, meningioma;HPO|4330|Adult onset, Autosomal dominant inheritance, Incomplete penetrance, Meningioma
EN-V1-2	TMSB10	0.39203287	0	Cytoskeletal associated protein	BrainSpLMD|9168	OMIM|188399
EN-V1-2	RPL15	0.37928807	0	Ribosomal subunit	BrainSpLMD|6138	OMIM|604174;HPO|6138|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Elevated red cell adenosine deaminase activity, Fatigue, Macrocytic anemia, Migraine, Normochromic anemia, Pallor, Reticulocytopenia, Triphalangeal thumb, Ventricular septal defect
EN-V1-2	NFASC	0.376879646	0	Adhesion molecule	BrainSpLMD|23114;Eurexp|euxassay_009740|brain, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|92672	OMIM|609145
EN-V1-2	ZSWIM6	0.376041056	0		Eurexp|euxassay_012565|mandible, mantle layer, maxilla	OMIM|615951;HPO|57688|Agenesis of corpus callosum, Autosomal dominant inheritance, Bifid nose, Brachycephaly, Broad nasal tip, Choroid plexus cyst, Cleft palate, Cleft upper lip, Encephalocele, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Large sella turcica, Meningocele, Preaxial polydactyly, Retrocerebellar cyst, Seizures, Syndactyly, Talipes equinovarus, Telecanthus, Thick nail, Thick nasal alae, Ventriculomegaly
EN-V1-2	OCIAD2	0.364298988	0	Unclassified	BrainSpLMD|132299	
EN-V1-2	GPI	0.362862687	0	Enzyme: Isomerase	BrainSpLMD|2821	OMIM|172400;HPO|2821|Ataxia, Autosomal recessive inheritance, Cholecystitis, Decreased glucosephosphate isomerase activity, Impaired neutrophil bactericidal activity, Intellectual disability, Jaundice, Muscle weakness, Nonspherocytic hemolytic anemia, Pigment gallstones, Sensory ataxia, Splenomegaly, Spontaneous hemolytic crises
EN-V1-2	YWHAE	0.360945465	0	Adapter molecule	BrainSpLMD|7531;Eurexp|euxassay_018722|embryo	SFARI||Autism, 4 - Minimal evidence;OMIM|605066;COSMIC||endometrial stromal sarcoma, Miller-Dieker lissencephaly syndrome;HPO|7531|Abnormality of the cardiovascular system, Abnormality of upper lip, Anteverted nares, Cerebral cortical atrophy, Downslanted palpebral fissures, EEG abnormality, Epicanthus, Frontal bossing, Global developmental delay, Growth delay, High forehead, Hypertelorism, Lissencephaly, Low-set ears, Muscular hypotonia, Narrow mouth, Polyhydramnios, Seizures, Short neck, Short nose, Wide nose
EN-V1-2	BEX1	0.342489113	0	Unclassified	BrainSpLMD|55859;Eurexp|euxassay_009948|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, metanephros, midgut, neural retina, olfactory, pancreas, paraxial mesenchyme, primitive seminiferous tubules, rest of mesenchyme, right lung, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|300690
EN-V1-2	KIF5A	0.338560516	0	Motor protein	BrainSpLMD|3798;Eurexp|euxassay_018169|Meckel's cartilage, axial skeleton, basioccipital bone, brain, cervical, cervico-thoracic, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, olfactory, orbito-sphenoid, pelvic girdle, radius, rib, scapula, spinal cord, temporal bone, thoracic, tibia, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|602821;HPO|3798|Ankle clonus, Athetosis, Autosomal dominant inheritance, Babinski sign, Chorea, Congenital onset, Cortical visual impairment, Delayed myelination, Developmental stagnation, Distal sensory impairment, Dysphagia, Feeding difficulties, Generalized hypotonia, Hyperreflexia, Impaired vibration sensation in the lower limbs, Knee clonus, Lower limb muscle weakness, Microcephaly, Nystagmus, Pes cavus, Phenotypic variability, Progressive, Progressive leukoencephalopathy, Ptosis, Scoliosis, Spastic gait, Spastic paraplegia, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
EN-V1-2	MORF4L1	0.338283209	0	Transcription regulatory protein	BrainSpLMD|10933	OMIM|607303
EN-V1-2	BCL7A	0.337142759	0	Adapter molecule	Eurexp|euxassay_009092|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, medulla oblongata, metanephros, metencephalon, midbrain, molar, neural retina, olfactory, spinal cord, telencephalon, thymus primordium, thyroid, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|601406;COSMIC||BNHL
EN-V1-2	TUBB2B	0.33639948	0	Cytoskeletal protein	BrainSpLMD|347733;Eurexp|euxassay_006373|embryo	OMIM|612850;HPO|347733|Agenesis of corpus callosum, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral palsy, Drooling, Frontoparietal cortical dysplasia, Gait disturbance, Global developmental delay, Hemiparesis, Hyperreflexia, Hypoplasia of the corpus callosum, Intellectual disability, Lissencephaly, Microcephaly, Motor delay, Muscular hypotonia, Pachygyria, Seizures, Short stature, Skeletal muscle atrophy, Specific learning disability, Strabismus, Unilateral polymicrogyria, Variable expressivity
EN-V1-2	RPL4	0.318704014	0	Ribosomal subunit	BrainSpLMD|6124	OMIM|180479
EN-V1-2	GRIA2	0.316464175	0	Extracellular ligand gated channel	BrainSpLMD|2891;Eurexp|euxassay_010006|brain, dorsal root ganglion, molar, penis, skeletal muscle, spinal cord, trigeminal V, vagus X;BrainSpMouseDev|14576	OMIM|138247
EN-V1-2	KIDINS220	0.314938007	0	Integral membrane protein	Eurexp|euxassay_009418|brain, cervical, cervico-thoracic, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|615759;HPO|57498|Astigmatism, Autosomal dominant inheritance, Cerebral atrophy, Deeply set eye, Delayed myelination, Delayed speech and language development, Dilation of lateral ventricles, Esotropia, Full cheeks, Global developmental delay, Hypermetropia, Hyperreflexia, Infantile onset, Intellectual disability, Limb hypertonia, Muscular hypotonia of the trunk, Nystagmus, Prominent forehead, Reduced visual acuity, Spastic paraplegia
EN-V1-2	RBFOX2	0.308112812	0	RNA binding protein	BrainSpLMD|23543	OMIM|612149
EN-V1-2	MYT1L	0.303848449	0	Transcription factor	BrainSpLMD|23040;BrainSpMouseDev|17700	SFARI||Autism, 1 - High confidence;OMIM|613084;HPO|23040|Aggressive behavior, Autosomal dominant inheritance, Delayed speech and language development, Global developmental delay, Intellectual disability, Obesity
EN-V1-2	RPS18	0.296177162	0	Ribosomal subunit	BrainSpLMD|6222	OMIM|180473
EN-V1-2	NTM	0.283318376	0	Adhesion molecule	BrainSpLMD|50863;Eurexp|euxassay_012548|axial skeleton, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, meninges, mesenchyme, neural retina, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|87964	OMIM|607938
EN-V1-2	NGFRAP1	0.263598383	0			
EN-V1-2	NBEA	0.255621001	0	Anchor protein	BrainSpLMD|26960	SFARI||Autism, 4 - Minimal evidence;OMIM|604889;COSMIC||large intestine carcinoma, multiple myeloma
EN-V1-2	SLCO3A1	1.390915034	1.11E-16	Membrane transport protein	BrainSpLMD|28232;Eurexp|euxassay_000780|cervical, cervico-thoracic, dorsal root ganglion, thoracic, vagus X	OMIM|612435
EN-V1-2	ANKS1B	0.900045903	1.11E-16	Transcription regulatory protein	BrainSpLMD|56899	SFARI||Autism, No category;OMIM|607815
EN-V1-2	BEX2	0.74577476	1.11E-16	Unclassified	BrainSpLMD|84707;Eurexp|euxassay_006276|bladder, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, lumen, mesenchyme, skeletal muscle, thoracic, trigeminal V, vertebral axis muscle system	OMIM|300691
EN-V1-2	SBK1	0.691428589	1.11E-16	Serine/threonine kinase		
EN-V1-2	CDC42P6	0.62457473	1.11E-16			
EN-V1-2	ATAT1	0.600315313	1.11E-16	Unclassified	BrainSpLMD|79969;Eurexp|euxassay_009892|brain, neural retina, spinal cord	OMIM|615556
EN-V1-2	NDUFS5	0.440429174	1.11E-16	Enzyme: Oxidoreductase	BrainSpLMD|4725	OMIM|603847
EN-V1-2	ZNF462	0.419948714	1.11E-16	Transcription regulatory protein	BrainSpLMD|58499;Eurexp|euxassay_016001|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, incisor, inner ear, mandible, mantle layer, mesenchyme, metanephros, molar, neural retina, penis, pharyngo-tympanic tube, submandibular gland primordium, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|88953	SFARI||Autism, 4 - Minimal evidence;OMIM|617371
EN-V1-2	TDRD7	1.638626987	2.22E-16	Adapter molecule	BrainSpLMD|23424;Eurexp|euxassay_005556|roof plate	OMIM|611258;HPO|23424|Autosomal recessive inheritance, Cataract
EN-V1-2	VDAC3	0.753503852	2.22E-16	Voltage gated channel	BrainSpLMD|7419;Eurexp|euxassay_007065|embryo	OMIM|610029
EN-V1-2	STXBP5	0.660349784	2.22E-16	Transport/cargo protein	BrainSpLMD|134957	SFARI||Autism, 3 - Suggestive evidence;OMIM|604586
EN-V1-2	MYCN	0.299692519	2.22E-16	Transcription factor	BrainSpLMD|4613;Eurexp|euxassay_018746|hindgut, incisor, lung, mantle layer, marginal layer, metanephros, midgut, molar, neural retina, stomach, trigeminal V, urethra, ventricular layer, vibrissa;BrainSpMouseDev|17876	OMIM|164840;COSMIC||neuroblastoma;HPO|4613|Accessory spleen, Annular pancreas, Anteverted nares, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Asplenia, Autosomal dominant inheritance, Blepharophimosis, Decreased fetal movement, Depressed nasal tip, Duodenal atresia, Elevated urinary catecholamines, Epicanthus, Esophageal atresia, Everted lower lip vermilion, Facial asymmetry, Hearing impairment, High palate, Intellectual disability, Low-set ears, Microcephaly, Micrognathia, Neoplasm of the nervous system, Patent ductus arteriosus, Polyhydramnios, Polysplenia, Posteriorly rotated ears, Prominent occiput, Short palpebral fissure, Short toe, Small anterior fontanelle, Specific learning disability, Thick vermilion border, Tracheoesophageal fistula, Triangular face, Upslanted palpebral fissure, Vocal cord paralysis, Wide nasal bridge
EN-V1-2	AC016716.2	0.621898096	3.33E-16			
EN-V1-2	RNF2	0.55026921	3.33E-16	Ubiquitin proteasome system protein	BrainSpLMD|6045	OMIM|608985
EN-V1-2	HMGCR	0.704035888	4.44E-16	Enzyme: Reductase	BrainSpLMD|3156;Eurexp|euxassay_004330|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nucleus pulposus, spinal cord, thoracic, trigeminal V, vagus X	OMIM|142910
EN-V1-2	KIAA0930	0.477834987	4.44E-16	Unclassified	BrainSpLMD|23313;Eurexp|euxassay_013414|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	
EN-V1-2	FAM13A	0.76578993	5.55E-16	Unclassified	BrainSpLMD|10144	OMIM|613299
EN-V1-2	CEP170	0.48408878	5.55E-16	Unclassified	BrainSpLMD|9859	OMIM|613023
EN-V1-2	PID1	0.703563508	6.66E-16	Unclassified	BrainSpLMD|55022	OMIM|612930
EN-V1-2	SRRM4	0.660566551	6.66E-16	Unclassified	BrainSpLMD|84530	SFARI||Autism, 5 - Hypothesized but untested;OMIM|613103
EN-V1-2	L1CAM	0.836864104	7.77E-16	Adhesion molecule	BrainSpLMD|3897;Eurexp|euxassay_016867|alar columns, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vagus X, ventral grey horn, ventricle, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|16500	OMIM|308840;HPO|3897|Abnormal facial shape, Absent septum pellucidum, Adducted thumb, Aganglionic megacolon, Agenesis of corpus callosum, Aphasia, Aqueductal stenosis, Camptodactyly of finger, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Corticospinal tract hypoplasia, Delayed speech and language development, Flexion contracture of thumb, Gait disturbance, Hand clenching, Hemiplegia/hemiparesis, Hydrocephalus, Hyperlordosis, Hyperreflexia, Increased intracranial pressure, Inferior vermis hypoplasia, Intellectual disability, Intellectual disability, severe, Kyphosis, Macrocephaly, Microcephaly, Muscle weakness, Partial agenesis of the corpus callosum, Pes cavus, Seizures, Short stature, Shuffling gait, Spastic paraplegia, Spasticity, Strabismus, Talipes equinovarus, Ventriculomegaly, X-linked recessive inheritance
EN-V1-2	FKBP1A	0.52389839	7.77E-16	Enzyme: Isomerase	BrainSpLMD|2280;Eurexp|euxassay_003477|Meckel's cartilage, incisor, lip, mantle layer, molar, orbito-sphenoid, ventral grey horn, ventricular layer	OMIM|186945
EN-V1-2	BZW2	0.479720709	7.77E-16	Translation regulatory protein	BrainSpLMD|28969	
EN-V1-2	SORBS1	0.348610657	7.77E-16	Cell junction protein	BrainSpLMD|10580;Eurexp|euxassay_003610|axial skeleton, basisphenoid bone, bladder, brain, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, heart, hindlimb, incisor, lens, liver, lung, metanephros, midgut, nasal septum, oesophagus, olfactory, orbito-sphenoid, otic capsule, respiratory, retina, rib, spinal cord, sternum, stomach, tongue, trachea, trigeminal V, vagus X, vertebra, vertebral cartilage condensation, vestibulocochlear VIII;BrainSpMouseDev|20174	OMIM|605264
EN-V1-2	HIVEP2	1.116994855	8.88E-16	DNA binding protein	BrainSpLMD|3097;Eurexp|euxassay_008979|marginal layer, mesenchyme;BrainSpMouseDev|15048	OMIM|143054;HPO|3097|Abnormal facial shape, Anxiety, Autistic behavior, Autosomal dominant inheritance, Constipation, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hyperactivity, Impulsivity, Infantile onset, Intellectual disability, Narrow mouth, Prominent nasal bridge, Tapered finger, Wide nasal bridge
EN-V1-2	CSRNP3	0.362404162	8.88E-16	Unclassified	BrainSpLMD|80034;Eurexp|euxassay_009789|brain, mantle layer, spinal cord, trigeminal V, ventricular layer	
EN-V1-2	CHD3	0.35637986	8.88E-16	DNA binding protein	BrainSpLMD|1107	OMIM|602120
EN-V1-2	TXN	0.397996604	9.99E-16	Enzyme: Reductase	Eurexp|euxassay_000861|basal plate, skeleton, submandibular gland primordium	OMIM|187700
EN-V1-2	CLIP3	0.30302979	1.11E-15	Cytoskeletal associated protein	BrainSpLMD|25999	OMIM|607382
EN-V1-2	TMEM108.AS1	0.780029179	1.44E-15			
EN-V1-2	GNG2	0.479754568	1.44E-15	G protein	BrainSpLMD|54331;Eurexp|euxassay_003975|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606981
EN-V1-2	OPTN	0.663695735	1.55E-15	Transcription regulatory protein	BrainSpLMD|10133;Eurexp|euxassay_018492|embryo	OMIM|602432;HPO|10133|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dysarthria, Dysphagia, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Muscle weakness, Myopia, Neurodegeneration, Open angle glaucoma, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Tongue fasciculations, Xerostomia
EN-V1-2	RAP1GDS1	0.605361671	1.55E-15	Guanine nucleotide exchange factor	BrainSpLMD|5910;Eurexp|euxassay_003801|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, penis, trigeminal V, ventral grey horn	OMIM|179502;COSMIC||T-ALL
EN-V1-2	ELMOD1	0.647262068	1.67E-15	Unclassified	BrainSpLMD|55531;Eurexp|euxassay_015979|mantle layer, ventral grey horn, vibrissa	OMIM|615456
EN-V1-2	MYO5B	1.341943792	2.11E-15	Structural protein	BrainSpLMD|4645;Eurexp|euxassay_010054|choroid plexus, cortex, mantle layer, midgut, skeletal muscle, vestibulocochlear VIII	OMIM|606540;HPO|4645|Autosomal recessive inheritance, Death in infancy, Dehydration, Growth delay, Malnutrition, Protracted diarrhea, Villous atrophy
EN-V1-2	NDST3	1.351029315	2.22E-15	Enzyme: Deacetylase	BrainSpLMD|9348;Eurexp|euxassay_009403|mantle layer	OMIM|603950
EN-V1-2	BLCAP	0.463582182	2.55E-15	Integral membrane protein	BrainSpLMD|10904;Eurexp|euxassay_005827|brain, spinal cord	OMIM|613110
EN-V1-2	TTC3	0.256132293	2.55E-15	Unclassified	BrainSpLMD|7267	OMIM|602259
EN-V1-2	LUC7L3	0.260288331	2.66E-15	Transcription regulatory protein	BrainSpLMD|51747	OMIM|609434
EN-V1-2	VLDLR.AS1	1.54239737	2.78E-15			
EN-V1-2	ACOT7	0.740148772	2.78E-15	Enzyme: Hydrolase	BrainSpLMD|11332;Eurexp|euxassay_011287|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, molar, neural retina, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|602587
EN-V1-2	AKT3	0.430847622	3.00E-15	Serine/threonine kinase	BrainSpLMD|10000;Eurexp|euxassay_006568|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611223;COSMIC||GBM;HPO|10000|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Cutis marmorata, Depressed nasal bridge, Hemimegalencephaly, High forehead, Hydrocephalus, Hyperextensible skin, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
EN-V1-2	LDLRAD4	0.861119562	3.11E-15	Integral membrane protein	BrainSpLMD|753	OMIM|606571
EN-V1-2	AMER2	0.433879891	3.33E-15	Unclassified	BrainSpLMD|219287;Eurexp|euxassay_006362|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614659
EN-V1-2	GNAQ	0.505358397	3.77E-15	G protein	BrainSpLMD|2776	OMIM|600998;COSMIC||uveal melanoma, primary central nervous system melanocytic neoplasms;HPO|2776|Arachnoid hemangiomatosis, Arteriovenous malformation, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Buphthalmos, Capillary hemangiomas, Cerebral cortical atrophy, Choroidal hemangioma, Choroidal melanoma, Ciliary body melanoma, Facial hemangioma, Glaucoma, Hypermelanotic macule, Hyperreflexia, Intellectual disability, Iris melanoma, Macrocephaly, Nevus flammeus, Optic atrophy, Papule, Retinal detachment, Seizures, Sporadic, Strabismus, Stroke, Visual loss
EN-V1-2	SNAP91	0.796079037	4.00E-15	Adapter molecule	BrainSpLMD|9892;Eurexp|euxassay_000563|atrium, calyces, cervical, cervico-thoracic, choroid plexus, dorsal root ganglion, extraembryonic component, facial VII, foregut-midgut junction, glossopharyngeal IX, heart, hindgut, hindlimb, limb, mantle layer, marginal layer, mesenchyme, midgut, neural retina, olfactory, stomach, stroma, thoracic, trigeminal V, urethra, vagus X, ventricle, vertebral axis muscle system, vestibulocochlear VIII	OMIM|607923
EN-V1-2	NAV1	0.418787241	4.66E-15	Unclassified	BrainSpLMD|89796;Eurexp|euxassay_015115|Meckel's cartilage, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, inferior, mantle layer, midbrain, molar, neural retina, olfactory, respiratory, spinal cord, stroma, superior, thoracic, trigeminal V, turbinate bones, vagus X, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|611628
EN-V1-2	CAMK2N1	0.360461012	6.00E-15	Unclassified	BrainSpLMD|55450	OMIM|614986
EN-V1-2	RP11.981G7.1	1.670524585	7.11E-15			
EN-V1-2	ATP6V0B	0.575930136	7.66E-15	ATPase	BrainSpLMD|533;Eurexp|euxassay_004026|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|603717
EN-V1-2	POU3F3	0.264122011	7.66E-15	Transcription factor	BrainSpLMD|5455;Eurexp|euxassay_019559|axial skeleton, ductus deferens, inner ear, larynx, lip, loop, lower, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, nasal septum, palatal shelf, penis, phalanx, rectum, skeletal muscle, trigeminal V, upper, ventricular layer;BrainSpMouseDev|18756	OMIM|602480
EN-V1-2	TBC1D30	1.153459609	8.33E-15			OMIM|615077
EN-V1-2	MAPRE2	0.530644625	9.99E-15	Cytoskeletal associated protein	BrainSpLMD|10982;Eurexp|euxassay_007836|cervical, cervico-thoracic, dorsal root ganglion, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|605789;HPO|10982|Autosomal dominant inheritance, Broad neck, Carious teeth, Cleft palate, Cryptorchidism, Delayed speech and language development, Downslanted palpebral fissures, Edema, Epicanthus, Flat face, Generalized hypotonia, Hypoplasia of the corpus callosum, Hypospadias, Increased number of skin folds, Irregular hyperpigmentation, Low-set ears, Microcornea, Micrognathia, Microphthalmia, Microtia, Motor delay, Narrow mouth, Posteriorly rotated ears, Scrotal hypoplasia, Seizures, Short neck, Short palpebral fissure, Thickened skin, Upslanted palpebral fissure
EN-V1-2	R3HDM1	0.720918573	1.03E-14	Unclassified	BrainSpLMD|23518	
EN-V1-2	YWHAZP3	0.331091689	1.12E-14			
EN-V1-2	LPL	1.373302727	1.33E-14	Enzyme: Lipase	BrainSpLMD|4023;Eurexp|euxassay_004410|anterior, atrium, choroid plexus, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, liver, mantle layer, marginal layer, mesenchyme, olfactory, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, ventricle;BrainSpMouseDev|16726	SFARI||Autism, No category;OMIM|609708;HPO|4023|Autosomal dominant inheritance, Autosomal recessive inheritance, Episodic abdominal pain, Eruptive xanthomas, Hepatosplenomegaly, Hypercholesterolemia, Increased circulating chylomicron levels, Increased circulating low-density lipoprotein levels, Increased circulating very-low-density lipoprotein levels, Jaundice, Lactescent serum, Lipemia retinalis, Myocardial infarction, Nausea, Pancreatitis, Splenomegaly, Vomiting
EN-V1-2	MTURN	0.702919532	1.35E-14	Unclassified	BrainSpLMD|222166	
EN-V1-2	PPIAP29	0.285231013	1.37E-14			
EN-V1-2	TUBA1C	0.513769137	1.39E-14	Cytoskeletal protein	BrainSpLMD|84790	
EN-V1-2	PRKAR2B	0.53624147	1.51E-14	Serine/threonine kinase	BrainSpLMD|5577;Eurexp|euxassay_012279|adrenal gland, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, lobe, midbrain, neural retina, skeletal muscle, spinal cord, submandibular gland primordium, telencephalon, testis, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|176912
EN-V1-2	SSBP3	0.646165539	1.52E-14	DNA binding protein	BrainSpLMD|23648	OMIM|607390
EN-V1-2	HIVEP3	0.57373565	1.83E-14	Transcription regulatory protein	BrainSpLMD|59269;BrainSpMouseDev|16428	SFARI||Autism, 3 - Suggestive evidence;OMIM|606649
EN-V1-2	FGF13	0.860395866	2.02E-14	Growth factor	BrainSpLMD|2258	OMIM|300070
EN-V1-2	ELOVL6	0.632607111	2.11E-14	Unclassified	BrainSpLMD|79071;Eurexp|euxassay_007796|embryo	OMIM|611546
EN-V1-2	NLN	0.428070361	2.70E-14	Metallo protease	BrainSpLMD|57486	OMIM|611530
EN-V1-2	PGM2L1	0.594458195	3.06E-14	Enzyme: Mutase	BrainSpLMD|283209;Eurexp|euxassay_012530|brain, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611610
EN-V1-2	STC1	1.156777806	3.74E-14	Calcium binding protein	BrainSpLMD|6781;Eurexp|euxassay_003067|axial skeleton, calyces, cervical, cervico-thoracic, cortex, dorsal grey horn, genital tubercle, head mesenchyme, limb, mesenchyme, pelvis, tail, testis, thoracic, tongue, vertebral axis muscle system	OMIM|601185
EN-V1-2	SKP1	0.265850938	3.80E-14	Ubiquitin proteasome system protein	BrainSpLMD|6500	OMIM|601434
EN-V1-2	SNCA	1.007447156	3.82E-14	Chaperone	BrainSpLMD|6622;BrainSpMouseDev|20379	OMIM|163890;HPO|6622|Autosomal dominant inheritance, Bradykinesia, Delusions, Dementia, Depressivity, Dysarthria, Dysautonomia, Dysphagia, Dystonia, Fluctuations in consciousness, Hallucinations, Hypokinesia, Insidious onset, Lewy bodies, Mental deterioration, Middle age onset, Myoclonus, Orthostatic hypotension, Paranoia, Parkinsonism, Postural instability, Progressive, Rapidly progressive, Resting tremor, Rigidity, Shuffling gait, Sleep disturbance, Urinary urgency, Visual hallucinations, Weight loss
EN-V1-2	RP11.181B18.1	0.778022706	3.84E-14			
EN-V1-2	DSCAM	0.492813209	4.14E-14	Adhesion molecule	BrainSpLMD|1826	SFARI||Autism, 1 - High confidence;OMIM|602523
EN-V1-2	GAS5	0.506622166	4.30E-14			OMIM|608280
EN-V1-2	RPL38	0.251670047	4.30E-14	Ribosomal subunit	Eurexp|euxassay_002056|thymus primordium	OMIM|604182
EN-V1-2	SLC22A23	0.850498288	4.94E-14	Integral membrane protein	BrainSpLMD|63027	OMIM|611697
EN-V1-2	EML1	0.509938855	5.48E-14	Structural protein	BrainSpLMD|2009	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602033;HPO|2009|Agenesis of corpus callosum, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Intellectual disability, severe, Macrocephaly, Polymicrogyria, Seizures, Sleep disturbance, Spasticity
EN-V1-2	RIMBP2	1.244220125	6.14E-14	Unclassified	BrainSpLMD|23504	OMIM|611602
EN-V1-2	TSPAN14	0.335775955	8.26E-14	Integral membrane protein	BrainSpLMD|81619;Eurexp|euxassay_007132|embryo	
EN-V1-2	TRIM2	0.288247549	8.33E-14	Unclassified	BrainSpLMD|23321;Eurexp|euxassay_008433|anterior, bladder, brain, cervical, cervico-thoracic, epithelium, facial VII, glossopharyngeal IX, hindgut, larynx, left lung, lens, mesenchyme, mesentery, metanephros, midgut, naso-lacrimal duct, neural retina, olfactory, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thoracic, trachea, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|614141;HPO|23321|Areflexia, Autosomal recessive inheritance, Broad-based gait, Decreased muscle mass, Decreased number of peripheral myelinated nerve fibers, Generalized hypotonia, Knee flexion contracture, Muscle weakness, Peripheral axonal neuropathy, Pes cavus, Respiratory insufficiency, Talipes equinovarus, Tracheomalacia, Vocal cord paralysis
EN-V1-2	GNAO1	0.635097834	9.24E-14	G protein	BrainSpLMD|2775;Eurexp|euxassay_018084|atrium, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, pituitary, spinal cord, stomach, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|139311;HPO|2775|Absent speech, Autosomal dominant inheritance, Cerebral atrophy, Delayed myelination, Epileptic encephalopathy, Generalized tonic seizures, Global developmental delay, Hypoplasia of the corpus callosum, Hypsarrhythmia
EN-V1-2	NDUFB11	0.368558285	9.91E-14	Enzyme: Oxidoreductase	BrainSpLMD|54539	OMIM|300403;HPO|54539|Abnormal facial shape, Abnormality of retinal pigmentation, Abnormality of the cardiac septa, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Agenesis of corpus callosum, Anophthalmia, Arrhythmia, Cardiac arrest, Congenital diaphragmatic hernia, Dermal atrophy, Dilated cardiomyopathy, Dilation of lateral ventricles, Erythema, Failure to thrive, Hyperpigmentation of the skin, Hypertrophic cardiomyopathy, Hypopigmented skin patches, Lacrimal duct atresia, Mandibular aplasia, Micrognathia, Microphthalmia, Midface retrusion, Muscular hypotonia of the trunk, Myopia, Nystagmus, Retrognathia, Sclerocornea, Seizures, Severe short stature, Strabismus, Ventricular fibrillation, Ventricular tachycardia, Vitritis, Wide nasal bridge, Wide nose, X-linked dominant inheritance
EN-V1-2	FNBP1L	0.287566486	9.94E-14	Cytoskeletal protein	BrainSpLMD|54874;Eurexp|euxassay_007867|diencephalon, dorsal root ganglion, glossopharyngeal IX, hindbrain, midbrain, neural retina, pituitary, spinal cord, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608848
EN-V1-2	SREBF2	0.438643763	1.00E-13	Transcription factor	BrainSpLMD|6721;BrainSpMouseDev|20550	OMIM|600481
EN-V1-2	RPL26	0.28483274	1.06E-13	Ribosomal subunit		OMIM|603704;HPO|6154|Abnormality of cells of the erythroid lineage, Abnormality of the eyelid, Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Absent thumb, Anemia, Arrhythmia, Atresia of the external auditory canal, Autosomal dominant inheritance, Bicuspid aortic valve, Cleft palate, Delayed puberty, Fatigue, Forearm reduction defects, Hypoplasia of the radius, Hypoplasia of the ulna, Macrocytic anemia, Migraine, Neutropenia, Pallor, Renal agenesis, Short stature, Stenosis of the external auditory canal
EN-V1-2	ZBTB38	0.751031248	1.09E-13	Transcription regulatory protein		OMIM|612218
EN-V1-2	ATP6V1G2	1.034981934	1.19E-13	ATPase	Eurexp|euxassay_002941|basal plate, facial VII, glossopharyngeal IX, lateral wall, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|606853
EN-V1-2	CHD5	1.315364676	1.27E-13	DNA binding protein	BrainSpLMD|26038;Eurexp|euxassay_013995|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 5 - Hypothesized but untested;OMIM|610771
EN-V1-2	CTNNA2	0.395080442	1.27E-13	Cytoskeletal protein	BrainSpLMD|1496;Eurexp|euxassay_011120|anterior, anterior abdominal wall, brain, cervical, cervico-thoracic, dermal component, dermis, dorsal root ganglion, facial VII, facial bones primordia, glossopharyngeal IX, inner ear, left lung, lip, medulla, midgut, molar, neural retina, oesophagus, olfactory, primitive seminiferous tubules, rectum, right lung, spinal cord, stomach, thoracic, thymus primordium, thyroid, tongue, trigeminal V, vagus X, valve, vestibulocochlear VIII, vomeronasal organ	OMIM|114025;COSMIC||gastric cancer
EN-V1-2	FOXG1	0.474987816	1.29E-13	Transcription factor	BrainSpLMD|2290;Eurexp|euxassay_017858|glossopharyngeal IX, mantle layer, molar, olfactory, thymus primordium, vestibulocochlear VIII;BrainSpMouseDev|15004	SFARI||Autism, No category;OMIM|164874;HPO|2290|Abnormality of movement, Abnormality of the antihelix, Abnormality of the antitragus, Abnormality of the fingernails, Abnormality of the metacarpal bones, Absent speech, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Apraxia, Athetosis, Autosomal dominant inheritance, Blepharophimosis, Bruxism, Bulbous nose, Camptodactyly of finger, Cerebral cortical atrophy, Chorea, Clinodactyly of the 5th finger, Constipation, Cortical gyral simplification, Delayed myelination, Depressed nasal bridge, Developmental regression, Downslanted palpebral fissures, Drooling, Dyskinesia, Dystonia, EEG abnormality, Epicanthus, Everted lower lip vermilion, Excessive salivation, Feeding difficulties, Fine hair, Gastroesophageal reflux, Growth delay, Hearing impairment, Hypoplasia of the corpus callosum, Intellectual disability, Intellectual disability, severe, Kyphosis, Long philtrum, Macroglossia, Mandibular prognathia, Microcephaly, Motor delay, Muscular hypotonia, Neonatal hypotonia, Nephrolithiasis, Pachygyria, Palpebral edema, Pes planus, Poor eye contact, Progressive microcephaly, Prominent metopic ridge, Protruding ear, Scoliosis, Seizures, Short nose, Smooth philtrum, Spasticity, Sporadic, Stereotypy, Talipes equinovarus, Tented upper lip vermilion, Thick vermilion border, Tongue thrusting, Underdeveloped nasal alae, Ventriculomegaly, Wide mouth, Wide nose
EN-V1-2	PLXNA2	0.386388003	1.49E-13	Cell surface receptor	BrainSpLMD|5362;Eurexp|euxassay_010018|brain, spinal cord;BrainSpMouseDev|18609	OMIM|601054
EN-V1-2	KIF21B	0.459078445	1.52E-13	Unclassified	BrainSpLMD|23046;Eurexp|euxassay_011005|dorsal root ganglion, facial VII, forebrain, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|608322
EN-V1-2	ZNF91	0.421388754	1.54E-13	Transcription regulatory protein	BrainSpLMD|7644	OMIM|603971
EN-V1-2	RPL4P5	0.273646098	1.56E-13			
EN-V1-2	DNAJC6	0.968169188	1.70E-13	Chaperone	BrainSpLMD|9829;Eurexp|euxassay_006348|cervical, cervico-thoracic, dorsal root ganglion, epithelium, facial VII, genital tubercle, glossopharyngeal IX, mantle layer, marginal layer, midgut, neural retina, olfactory, stomach, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608375;HPO|9829|Abnormal pyramidal signs, Akinesia, Autosomal recessive inheritance, Bradykinesia, Brain atrophy, Cognitive impairment, Dysarthria, Dystonia, Fatigue, Gait ataxia, Hallucinations, Hypomimic face, Hyporeflexia, Inability to walk, Intellectual disability, Leg muscle stiffness, Parkinsonism, Pes cavus, Postural instability, Rapidly progressive, Resting tremor, Rigidity, Scoliosis, Seizures, Short stepped shuffling gait, Shuffling gait, Slow progression, Slowed slurred speech, Spasticity, Tremor, Weak voice
EN-V1-2	MIR124.2HG	0.769593167	1.72E-13			
EN-V1-2	NCDN	1.179460311	2.02E-13	Unclassified	BrainSpLMD|23154;Eurexp|euxassay_001888|dorsal root ganglion, glossopharyngeal IX, marginal layer, trigeminal V, ventral grey horn	OMIM|608458
EN-V1-2	COTL1	0.784682996	2.11E-13	Unclassified	BrainSpLMD|23406;Eurexp|euxassay_010951|cortex, embryo, epithelium, lens, mantle layer, marginal layer, midgut, neural retina, olfactory, stomach, thymus primordium, trachea, ventricular layer;BrainSpMouseDev|47883	OMIM|606748
EN-V1-2	RP11.466H18.1	0.267726597	2.12E-13			
EN-V1-2	AGTPBP1	0.505500196	2.29E-13	Carboxypeptidase	BrainSpLMD|23287;Eurexp|euxassay_007611|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn	OMIM|606830
EN-V1-2	RNF152	0.750260118	2.45E-13	Ubiquitin proteasome system protein	BrainSpLMD|220441	OMIM|616512
EN-V1-2	CHN2	1.116568207	2.49E-13	GTPase activating protein	BrainSpLMD|1124;Eurexp|euxassay_006113|embryo	OMIM|602857
EN-V1-2	ASNS	0.517079706	2.62E-13	Enzyme: Synthase	BrainSpLMD|440;Eurexp|euxassay_004453|dorsal root ganglion, facial VII, floorplate, glossopharyngeal IX, incisor, liver, lung, mantle layer, marginal layer, midgut, naso-lacrimal duct, pancreas, retina, skeletal muscle, stomach, trigeminal V, vagus X	OMIM|108370;HPO|440|Autosomal recessive inheritance, Cerebellar hypoplasia, Cortical dysplasia, Cortical gyral simplification, Cortical visual impairment, Delayed myelination, Encephalopathy, Exaggerated startle response, Failure to thrive, Feeding difficulties, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Hypsarrhythmia, Large hands, Long foot, Macrotia, Microcephaly, Micrognathia, Muscular hypotonia of the trunk, Profound global developmental delay, Progressive, Progressive microcephaly, Respiratory insufficiency, Seizures, Sloping forehead, Spastic tetraplegia, Ventriculomegaly
EN-V1-2	PPP2R2B	0.359283614	2.73E-13	Regulatory/other subunit;Serine/threonine phosphatase	BrainSpLMD|5521;Eurexp|euxassay_007301|Meckel's cartilage, brain, eyelid, facial VII, glossopharyngeal IX, inner ear, left lung, neural retina, orbito-sphenoid, right lung, skeletal muscle, spinal cord, tongue, trigeminal V, turbinate, vagus X, vestibulocochlear VIII	OMIM|604325;HPO|5521|Abnormality of eye movement, Action tremor, Anxiety, Autosomal dominant inheritance, Axial dystonia, Cerebellar atrophy, Cerebral cortical atrophy, Delusions, Dementia, Depressivity, Dysarthria, Dysdiadochokinesis, Dysmetria, Facial myokymia, Head tremor, Hyperreflexia, Parkinsonism, Progressive cerebellar ataxia, Sensorimotor neuropathy
EN-V1-2	STRBP	0.662214636	3.39E-13	RNA binding protein	BrainSpLMD|55342;Eurexp|euxassay_012970|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|611138
EN-V1-2	TMEM14A	0.431624162	3.69E-13	Integral membrane protein	BrainSpLMD|28978	OMIM|616870
EN-V1-2	PSMB4	0.536490113	3.71E-13	Ubiquitin proteasome system protein	BrainSpLMD|5692	OMIM|602177
EN-V1-2	ACAT2	0.569069826	3.89E-13	Enzyme: Acyltransferase	BrainSpLMD|39;Eurexp|euxassay_010142|brain, cervical, cervico-thoracic, chondrocranium, dorsal root ganglion, facial VII, foregut-midgut junction, glomeruli, glossopharyngeal IX, head mesenchyme, hindgut, incisor, left lung, liver, lobe, marginal layer, mesenchyme, metanephros, midgut, neural retina, right lung, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|100678;HPO|39|Chorea, Generalized hypotonia, Global developmental delay, Increased serum lactate, Increased serum pyruvate, Sporadic
EN-V1-2	MAPK8	0.702687205	4.86E-13	Serine/threonine kinase	BrainSpLMD|5599;Eurexp|euxassay_018521|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X;BrainSpMouseDev|26167	OMIM|601158
EN-V1-2	UBE2V2	0.556434478	4.87E-13	Ubiquitin proteasome system protein	BrainSpLMD|7336;Eurexp|euxassay_007283|embryo	OMIM|603001
EN-V1-2	RIMKLB	0.338416785	5.07E-13	Unclassified	BrainSpLMD|57494;Eurexp|euxassay_010437|brain, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, incisor, molar, neural retina, phalanx, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|614054
EN-V1-2	FEZ1	0.421932215	5.19E-13	Unclassified	BrainSpLMD|9638;BrainSpMouseDev|87970	OMIM|604825
EN-V1-2	VAMP2	0.437114669	5.41E-13	Membrane transport protein	BrainSpLMD|6844	OMIM|185881
EN-V1-2	ELAVL3	0.41481636	5.71E-13	RNA binding protein	BrainSpLMD|1995	SFARI||Autism, 3 - Suggestive evidence;OMIM|603458
EN-V1-2	ACSL4	0.928058559	6.62E-13	Enzyme: Ligase	BrainSpLMD|2182;Eurexp|euxassay_018901|adrenal gland, basal plate, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, ductus deferens, facial VII, glossopharyngeal IX, hindbrain, liver, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midbrain, midgut, neural retina, nuclear layer, olfactory, pancreas, skeletal muscle, spinal cord, stomach, telencephalon, thoracic, thymus primordium, trigeminal V, vagus X, ventral grey horn, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|300157;HPO|2182|Abnormality of the hair, Anteverted nares, Anxiety, Depressed nasal bridge, Downslanted palpebral fissures, Elliptocytosis, Glomerulopathy, Hearing impairment, Hyperreflexia, Intellectual disability, Intellectual disability, severe, Malar flattening, Microscopic hematuria, Muscular hypotonia, Proteinuria, Renal insufficiency, Tapered finger, Thick vermilion border, Thin vermilion border, X-linked dominant inheritance, X-linked inheritance
EN-V1-2	NDUFC2	0.355038028	7.94E-13	Enzyme: Oxidoreductase	BrainSpLMD|4718	OMIM|603845
EN-V1-2	PTPRO	0.59713848	8.13E-13	Receptor tyrosine phosphatase	BrainSpLMD|5800;Eurexp|euxassay_000528|cerebral cortex, corpus striatum, hypothalamus, lateral wall, marginal layer, olfactory cortex, testis	OMIM|600579;HPO|5800|Autosomal recessive inheritance, Edema, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Variable expressivity
EN-V1-2	EXOC4	0.630125585	8.21E-13	Transport/cargo protein	BrainSpLMD|60412;Eurexp|euxassay_014340|brain, cervical, cranial, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608185
EN-V1-2	PWAR6	0.50290492	9.99E-13			
EN-V1-2	FGF9	0.654863299	1.27E-12	Growth factor	BrainSpLMD|2254;BrainSpMouseDev|13957	OMIM|600921;HPO|2254|Autosomal dominant inheritance, Cubitus valgus, Humeroradial synostosis, Limited interphalangeal movement, Metacarpal synostosis, Metatarsal synostosis
EN-V1-2	TCEAL5	0.744648524	1.31E-12	Transcription regulatory protein		
EN-V1-2	PPIAP22	0.270721894	1.63E-12			
EN-V1-2	KIF3A	0.456913453	1.73E-12	Motor protein	BrainSpLMD|11127	OMIM|604683
EN-V1-2	CYCS	0.450063338	1.84E-12	Enzyme: Oxidase	BrainSpLMD|54205;Eurexp|euxassay_000644|Meckel's cartilage, basal plate, calyces, chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, molar, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|123970;HPO|54205|Autosomal dominant inheritance, Thrombocytopenia
EN-V1-2	PNMA2	0.880860603	2.14E-12	Unclassified	BrainSpLMD|10687;Eurexp|euxassay_005514|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|603970
EN-V1-2	LPPR5	1.204351876	2.23E-12			
EN-V1-2	KIF3C	0.41747837	2.31E-12	Motor protein	BrainSpLMD|3797;Eurexp|euxassay_010971|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602845
EN-V1-2	PGD	0.366749151	2.40E-12	Enzyme: Dehydrogenase	BrainSpLMD|5226;Eurexp|euxassay_010515|adrenal gland, axial muscle, dorsal root ganglion, liver, lung, mandible, maxilla, metanephros, midgut, orbito-sphenoid, stomach, thymus primordium	OMIM|172200
EN-V1-2	PPFIA2	0.332157671	2.47E-12	Anchor protein	BrainSpLMD|8499	OMIM|603143
EN-V1-2	SOX12	0.526029483	2.76E-12	Transcription factor	BrainSpLMD|6666;Eurexp|euxassay_019555|facial VII, glossopharyngeal IX, neural retina, trigeminal V;BrainSpMouseDev|20429	OMIM|601947
EN-V1-2	PRKACB	0.295568371	2.77E-12	Serine/threonine kinase	BrainSpLMD|5567	OMIM|176892
EN-V1-2	RPS4X	0.294613734	2.83E-12	Ribosomal subunit	BrainSpLMD|6191;BrainSpMouseDev|19865	OMIM|312760
EN-V1-2	SMAD2	0.506510144	3.12E-12	DNA binding protein	BrainSpLMD|4087;Eurexp|euxassay_000185|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, nerve fibre layer, nerve trunk, nuclear layer, roof plate, tegmentum, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|16896	OMIM|601366;COSMIC||colorectal carcinoma, hepatocellular carcinoma
EN-V1-2	PRDX5	0.557317208	3.20E-12	Enzyme: Oxidoreductase	BrainSpLMD|25824	OMIM|606583
EN-V1-2	MRPS21	0.481298246	3.46E-12	Ribosomal subunit	BrainSpLMD|54460	OMIM|611984
EN-V1-2	COPS8P2	1.53671596	3.52E-12			
EN-V1-2	ATP5L	0.277487546	3.66E-12			
EN-V1-2	SLC8A1.AS1	0.539825165	3.77E-12			
EN-V1-2	RP11.397O4.1	0.893956138	4.71E-12			
EN-V1-2	GDI1	0.478652491	4.73E-12	GTPase activating protein	BrainSpLMD|2664;Eurexp|euxassay_004022|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|300104;HPO|2664|Generalized hypotonia, Global developmental delay, Intellectual disability, X-linked dominant inheritance, X-linked inheritance
EN-V1-2	INA	0.656869013	4.75E-12	Cytoskeletal protein	BrainSpLMD|9118;Eurexp|euxassay_012424|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|605338
EN-V1-2	SFXN3	0.530525508	5.32E-12	Integral membrane protein	BrainSpLMD|81855	OMIM|615571
EN-V1-2	DPYSL5	0.373086661	6.26E-12	Unclassified	BrainSpLMD|56896;BrainSpMouseDev|41755	OMIM|608383
EN-V1-2	ACTR1A	0.518076763	6.54E-12	Cytoskeletal protein	BrainSpLMD|10121;Eurexp|euxassay_006567|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605143
EN-V1-2	RPL22	0.48363861	7.34E-12	Ribosomal subunit	BrainSpLMD|6146	OMIM|180474;COSMIC||AML, CML
EN-V1-2	HS3ST1	0.552917786	7.66E-12	Enzyme: Sulphotransferase	BrainSpLMD|9957;Eurexp|euxassay_011898|Meckel's cartilage, femur, fibula, hip, humerus, mantle layer, mesenchyme, metatarsus, rib, scapula, submandibular gland primordium, tibia, ventricular layer	OMIM|603244
EN-V1-2	ATP9A	0.314431301	7.96E-12	ATPase		OMIM|609126
EN-V1-2	NAP1L3	0.666304444	8.32E-12	Unclassified	BrainSpLMD|4675;Eurexp|euxassay_002914|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|300117
EN-V1-2	STXBP1	0.470034665	8.85E-12	Transport/cargo protein	BrainSpLMD|6812	SFARI||Autism, 3 - Suggestive evidence;OMIM|602926;HPO|6812|Absent speech, Ataxia, Autosomal dominant inheritance, Cerebral atrophy, Cerebral hypomyelination, Cutaneous photosensitivity, Developmental regression, EEG abnormality, EEG with burst suppression, Epileptic encephalopathy, Epileptic spasms, Febrile seizures, Focal clonic seizures, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic seizures, Generalized tonic-clonic seizures, Hypoplasia of the corpus callosum, Hypsarrhythmia, Impaired horizontal smooth pursuit, Infantile encephalopathy, Intellectual disability, severe, Muscular hypotonia, Neonatal onset, Neurodevelopmental delay, Obtundation status, Pschomotor retardation, Severe global developmental delay, Spastic paraplegia, Spastic tetraplegia, Status epilepticus, Tremor, Variable expressivity
EN-V1-2	LINC01114	1.06556458	9.17E-12			
EN-V1-2	DNM3	0.893017378	9.96E-12	GTPase	BrainSpLMD|26052	OMIM|611445
EN-V1-2	KLC1	0.532526843	1.02E-11	Motor protein	BrainSpLMD|3831;Eurexp|euxassay_009774|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|600025
EN-V1-2	PRMT2	0.292517211	1.12E-11	Enzyme: Methyltransferase	BrainSpLMD|3275	OMIM|601961
EN-V1-2	SEZ6L2	0.300299424	1.15E-11	Integral membrane protein	BrainSpLMD|26470;Eurexp|euxassay_006780|adenohypophysis, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, medulla, midgut, neural retina, olfactory, skeletal muscle, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|616667
EN-V1-2	FSD1L	0.681919809	1.20E-11	Unclassified	BrainSpLMD|83856	OMIM|609829
EN-V1-2	TMEM57	0.581559444	1.29E-11			
EN-V1-2	RPL37	0.534542606	1.35E-11	Ribosomal subunit		OMIM|604181
EN-V1-2	GNAZ	0.476301298	1.68E-11	G protein	BrainSpLMD|2781;Eurexp|euxassay_001214|dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|139160
EN-V1-2	LMO4	0.821515019	1.87E-11	Transcription regulatory protein	BrainSpLMD|8543;Eurexp|euxassay_004815|mantle layer, marginal layer, naris, submandibular gland primordium, vibrissa;BrainSpMouseDev|16681	OMIM|603129
EN-V1-2	ZC2HC1A	0.366031435	2.30E-11	Unclassified	BrainSpLMD|51101;Eurexp|euxassay_014698|cochlear component, diencephalon, dorsal root ganglion, facial VII, hindbrain, inferior, medulla oblongata, metencephalon, midbrain, olfactory, spinal cord, superior, telencephalon, trigeminal V, turbinate bones, vagus X, vestibular component	
EN-V1-2	EDIL3	0.693237214	2.32E-11	Extracellular matrix protein	BrainSpLMD|10085	OMIM|606018
EN-V1-2	UBE2Q2P6	0.332841817	3.25E-11			
EN-V1-2	CSMD2	0.291733668	4.38E-11	Unclassified	BrainSpLMD|114784;Eurexp|euxassay_013347|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	OMIM|608398
EN-V1-2	CACNA1E	0.416877061	4.51E-11	Voltage gated channel	BrainSpLMD|777;Eurexp|euxassay_006436|dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|601013
EN-V1-2	G3BP2	0.301829914	4.98E-11	Unclassified	BrainSpLMD|9908	
EN-V1-2	LONRF2	0.733473881	5.02E-11	DNA binding protein	BrainSpLMD|164832;Eurexp|euxassay_010821|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V	
EN-V1-2	TBCA	0.315098076	5.04E-11	Chaperone	BrainSpLMD|6902;Eurexp|euxassay_009814|mantle layer, ventricular layer	OMIM|610058
EN-V1-2	C14orf23	0.337722543	5.57E-11			
EN-V1-2	RPL9P7	0.515489418	5.72E-11			
EN-V1-2	MIR6723	0.680340028	6.63E-11			
EN-V1-2	BEX4	0.384360555	7.26E-11	Adapter molecule	Eurexp|euxassay_006309|calyces, liver, lung, midgut, pancreas, rectum, stomach, submandibular gland primordium, urethra	OMIM|300692
EN-V1-2	TERF2IP	0.338554185	8.06E-11	DNA binding protein;Cell cycle control protein	BrainSpLMD|54386	OMIM|605061;HPO|54386|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus
EN-V1-2	YWHAQ	0.313162203	8.79E-11	Adapter molecule	BrainSpLMD|10971	OMIM|609009
EN-V1-2	SSBP2	0.758640677	9.52E-11	Transcription regulatory protein	BrainSpLMD|23635;Eurexp|euxassay_004775|adenohypophysis, brain, diencephalon, forelimb, glossopharyngeal IX, hindbrain, hindlimb, mantle layer, marginal layer, mesenchyme, midbrain, olfactory, spinal cord, tail, trigeminal V, vestibulocochlear VIII	OMIM|607389
EN-V1-2	SEPW1	0.287709372	1.05E-10			
EN-V1-2	SLC44A1	0.420697886	1.07E-10	Integral membrane protein	BrainSpLMD|23446;Eurexp|euxassay_019727|bladder, clavicle, cornea, femur, fibula, hindgut, liver, lung, mandible, mantle layer, maxilla, midgut, oesophagus, olfactory, orbito-sphenoid, palatal shelf, pancreas, phalanx, pituitary, rib, sternum, submandibular gland primordium, testis, thymus primordium, tibia, urethra, ventricular layer, vibrissa	OMIM|606105
EN-V1-2	TOMM20	0.521452931	1.11E-10	Membrane transport protein	BrainSpLMD|9804	SFARI||Autism, 5 - Hypothesized but untested;OMIM|601848
EN-V1-2	MAP4	0.497893415	1.33E-10	Cytoskeletal associated protein	BrainSpLMD|4134	OMIM|157132
EN-V1-2	ZNF793	0.5237902	1.35E-10	DNA binding protein	BrainSpLMD|390927	
EN-V1-2	MORF4L1P1	0.324203094	1.47E-10			
EN-V1-2	RPL9	0.26736703	1.61E-10	Ribosomal subunit	BrainSpLMD|6133	OMIM|603686
EN-V1-2	TRAK1	0.596467263	1.63E-10	Transcription regulatory protein	BrainSpLMD|22906;Eurexp|euxassay_009992|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, submandibular gland primordium, trigeminal V, vagus X, ventricular layer	OMIM|608112
EN-V1-2	TANC2	0.36123412	1.83E-10	Unclassified		SFARI||Autism, 4 - Minimal evidence;OMIM|615047
EN-V1-2	CCSER1	0.585917648	2.38E-10	Unclassified	BrainSpLMD|401145;Eurexp|euxassay_016073|cervical, cervico-thoracic, facial VII, glossopharyngeal IX, mantle layer, marginal layer, metanephros, thoracic, trachea	
EN-V1-2	DYNLRB1	0.389813777	2.74E-10	Unclassified;Transport/cargo protein	BrainSpLMD|83658;Eurexp|euxassay_002535|dorsal root ganglion	OMIM|607167
EN-V1-2	ETNK1	0.298692868	2.78E-10	Enzyme: Phosphotransferase	BrainSpLMD|55500;Eurexp|euxassay_008092|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, thymus primordium, trigeminal V	OMIM|609858;COSMIC||aCML, CMML, SM-AHD, HES
EN-V1-2	SCN2A	0.59666858	2.82E-10	Voltage gated channel	BrainSpLMD|6326	SFARI||Autism, 1 - High confidence;OMIM|182390;HPO|6326|Abnormality of skin morphology, Abnormality of vision, Ataxia, Autosomal dominant inheritance, Choreoathetosis, Cutaneous photosensitivity, Cyanosis, Deeply set eye, Developmental regression, Dialeptic seizures, Dysesthesia, Dyskinesia, EEG abnormality, Epileptic encephalopathy, Febrile seizures, Focal clonic seizures, Focal seizures, Focal seizures, afebril, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Generalized tonic-clonic seizures with focal onset, Global developmental delay, Hypertonia, Hypsarrhythmia, Infantile onset, Infantile spasms, Muscular hypotonia, Myoclonus, Neurodevelopmental delay, Normal interictal EEG, Obtundation status, Pschomotor retardation, Reduced consciousness/confusion, Seizures, Spastic tetraplegia, Status epilepticus, Tremor, Variable expressivity
EN-V1-2	HERC1	0.315141916	2.95E-10	Membrane transport protein	BrainSpLMD|8925;Eurexp|euxassay_010717|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, mandible, maxilla, neural retina, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|605109;HPO|8925|Arachnodactyly, Autosomal recessive inheritance, Congenital onset, Downslanted palpebral fissures, Frontal bossing, Gait ataxia, Generalized hypotonia, Global developmental delay, High palate, Hyperlordosis, Hypertelorism, Intellectual disability, Joint laxity, Kyphosis, Large hands, Long face, Long foot, Long neck, Low-set ears, Macrocephaly, Macrotia, Malar flattening, Mandibular prognathia, Megalencephaly, Pes planus, Posteriorly rotated ears, Prominent forehead, Prominent nasal bridge, Proptosis, Scoliosis, Sparse eyebrow, Tall stature, Triangular face, Upslanted palpebral fissure, Ventriculomegaly
EN-V1-2	NAV3	0.354184638	3.01E-10	Unclassified	BrainSpLMD|89795	OMIM|611629
EN-V1-2	GABBR2	0.944136852	3.12E-10	G protein coupled receptor	BrainSpLMD|9568;BrainSpMouseDev|88950	OMIM|607340
EN-V1-2	DSTN	0.48563269	3.31E-10	Cytoskeletal associated protein	BrainSpLMD|11034;Eurexp|euxassay_001919|atrium, bladder, brain, cervico-thoracic, dorsal root ganglion, epidermis, epithelium, glossopharyngeal IX, hindgut, midgut, neural retina, oesophagus, olfactory, oral epithelium, pharyngo-tympanic tube, respiratory, spinal cord, stomach, stroma, submandibular gland primordium, thoracic, thymus primordium, thyroid, trachea, trigeminal V, vagus X, ventricle, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, wall	OMIM|609114
EN-V1-2	PCDH7	0.906736893	3.32E-10	Adhesion molecule	BrainSpLMD|5099;Eurexp|euxassay_009713|bladder, dorsal root ganglion, mantle layer, mesenchyme, olfactory, stomach, trigeminal V, vestibulocochlear VIII	OMIM|602988
EN-V1-2	SCAPER	0.420342276	3.38E-10	DNA binding protein	BrainSpLMD|49855	OMIM|611611
EN-V1-2	SGK494	0.783204894	3.50E-10			
EN-V1-2	SEC61B	0.370709227	3.57E-10	Membrane transport protein		OMIM|609214
EN-V1-2	RPSA	0.307541451	3.90E-10	Cell surface receptor;Ribosomal subunit	BrainSpLMD|3921	OMIM|150370;HPO|3921|Abnormality of abdomen morphology, Abnormality of metabolism/homeostasis, Asplenia, Autosomal dominant inheritance, Autosomal recessive inheritance, Infantile onset
EN-V1-2	EIF3LP2	0.398400658	3.92E-10			
EN-V1-2	FAM107B	0.417030485	4.39E-10	Unclassified	BrainSpLMD|83641;Eurexp|euxassay_000675|thymus primordium	
EN-V1-2	ATP5G1	0.283285915	4.45E-10			
EN-V1-2	JMJD1C	0.294168873	4.60E-10	Transcription regulatory protein	BrainSpLMD|221037;Eurexp|euxassay_008985|mantle layer, ventricular layer;BrainSpMouseDev|72988	SFARI||Autism, 4 - Minimal evidence;OMIM|604503;HPO|221037|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
EN-V1-2	GOLGA7B	0.922344567	4.82E-10	Unclassified		OMIM|614189
EN-V1-2	PTPRE	0.334541093	5.33E-10	Receptor tyrosine phosphatase	BrainSpLMD|5791	OMIM|600926
EN-V1-2	TMEM206	0.758732573	5.64E-10	Unclassified	BrainSpLMD|55248	
EN-V1-2	ASXL3	0.293892577	5.66E-10	Unclassified		SFARI||Autism, 1 - High confidence;OMIM|615115;HPO|80816|Anteverted nares, Feeding difficulties, Highly arched eyebrow, Severe global developmental delay, Severe postnatal growth retardation
EN-V1-2	CFL1	0.388749617	5.87E-10	Cytoskeletal associated protein	BrainSpLMD|1072	OMIM|601442
EN-V1-2	TBC1D24	0.404917353	6.78E-10	Unclassified	BrainSpLMD|57465;Eurexp|euxassay_010949|brain, dorsal root ganglion, facial VII, liver, mesenchyme, neural retina, olfactory, retina, spinal cord, vestibulocochlear VIII	OMIM|613577;HPO|57465|Aggressive behavior, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Developmental regression, EEG with irregular generalized spike and wave complexes, Generalized myoclonic seizures, Global developmental delay, Hearing impairment, Intellectual disability, mild, Irritability, Mental deterioration, Myoclonus, Progressive hearing impairment, Slow progression
EN-V1-2	STAU1	0.44912764	6.82E-10	RNA binding protein;Transport/cargo protein	BrainSpLMD|6780	OMIM|601716
EN-V1-2	EPHB1	0.892996623	6.83E-10	Receptor tyrosine kinase	BrainSpLMD|2047;Eurexp|euxassay_018955|floorplate, mantle layer, marginal layer, mesenchyme, neural retina, ventricular layer;BrainSpMouseDev|92948	OMIM|600600
EN-V1-2	NIPSNAP3A	0.77790452	7.27E-10	Transport/cargo protein	BrainSpLMD|25934	OMIM|608871
EN-V1-2	KIF1A	0.722836023	7.33E-10	Motor protein	BrainSpLMD|547;Eurexp|euxassay_016778|alar plate, basal plate, cerebellum, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601255;HPO|547|Abnormal cortical bone morphology, Abnormality of epiphysis morphology, Abnormality of eye movement, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of the ankles, Abnormality of the eye, Abnormality of the hip bone, Abnormality of the knee, Abnormality of the palate, Abnormality of upper lip, Acral ulceration leading to autoamputation of digits, Anhidrosis, Ankle clonus, Anteverted nares, Areflexia, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Biparietal narrowing, Cerebellar atrophy, Cerebral cortical atrophy, Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Decreased taste sensation, Drowsiness, Dysmetria, Dystrophic fingernails, Dystrophic toenail, Edema of the lower limbs, Epicanthus, Episodic hyperhidrosis, External ear malformation, Feeding difficulties, Feeding difficulties in infancy, Foot acroosteolysis, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hydrocephalus, Hyperhidrosis, Hyperlordosis, Hyperreflexia, Hyporeflexia, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, severe, Limitation of joint mobility, Lower limb amyotrophy, Lower limb muscle weakness, Lower limb spasticity, Macrotia, Malar flattening, Microcephaly, Midface retrusion, Open mouth, Optic atrophy, Osteolytic defects of the phalanges of the hand, Painless fractures due to injury, Palpebral edema, Paronychia, Peripheral axonal neuropathy, Peripheral edema, Peripheral neuropathy, Porencephalic cyst, Progressive, Recurrent respiratory infections, Reduced bone mineral density, Severe muscular hypotonia, Short nose, Skeletal muscle atrophy, Slow progression, Spastic gait, Spastic paraplegia, Tapered finger, Urinary bladder sphincter dysfunction, Variable expressivity, Ventriculomegaly, Visual loss, Wormian bones
EN-V1-2	TRIB2	0.650190111	7.64E-10	Serine/threonine kinase	BrainSpLMD|28951;BrainSpMouseDev|85202	OMIM|609462
EN-V1-2	AKR1C1	0.77552489	8.53E-10	Enzyme: Reductase	BrainSpLMD|1645	OMIM|600449
EN-V1-2	NCOA1	0.548237354	8.59E-10	Enzyme: Transferase	BrainSpLMD|8648;Eurexp|euxassay_005512|diaphragm, dorsal grey horn, olfactory, vertebral axis muscle system;BrainSpMouseDev|17744	OMIM|602691;COSMIC||alveolar rhabdomyosarcoma
EN-V1-2	VPS26B	0.54403465	1.01E-09	Transport/cargo protein	BrainSpLMD|112936	OMIM|610027
EN-V1-2	ACTL6B	0.90142994	1.09E-09	Structural protein	BrainSpLMD|51412;Eurexp|euxassay_005177|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612458
EN-V1-2	ATP6V1A	0.455357421	1.12E-09	Transport/cargo protein	BrainSpLMD|523;Eurexp|euxassay_004518|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|607027;HPO|523|Abnormal apolipoprotein level, Abnormal isoelectric focusing of serum transferrin, Abnormal subcutaneous fat tissue distribution, Broad nasal tip, Carious teeth, Cerebellar hypoplasia, Coarse hair, Congenital hip dislocation, Dandy-Walker malformation, Decreased muscle mass, Delayed closure of the anterior fontanelle, Delayed speech and language development, Dementia, Downslanted palpebral fissures, Excessive wrinkled skin, Failure to thrive, Feeding difficulties, Fragmented elastic fibers in the dermis, Generalized joint laxity, Global developmental delay, High palate, Hypertelorism, Infantile muscular hypotonia, Inguinal hernia, Intellectual disability, profound, Intrauterine growth retardation, Lipodystrophy, Lissencephaly, Long philtrum, Low-set ears, Malar flattening, Motor delay, Pachygyria, Polymicrogyria, Poor speech, Postnatal growth retardation, Progressive microcephaly, Prominent nasolabial fold, Prominent veins on trunk, Psychomotor deterioration, Redundant neck skin, Seizures, Severe Myopia, Short nose, Short stature, Smooth philtrum, Sparse hair, Spasticity, Strabismus, Subretinal pigment epithelium hemorrhage, Thick cerebral cortex, Thick hair
EN-V1-2	RP11.166D19.1	0.295235955	1.13E-09			
EN-V1-2	RAB33A	0.39513512	1.33E-09	GTPase	BrainSpLMD|9363	OMIM|300333
EN-V1-2	GNAI1	0.63400659	1.38E-09	G protein	BrainSpLMD|2770;Eurexp|euxassay_009056|dorsal root ganglion	OMIM|139310
EN-V1-2	KCNMB4	0.748422904	1.51E-09	Transport/cargo protein	BrainSpLMD|27345;Eurexp|euxassay_008263|anterior, dorsal root ganglion, external, facial VII, glossopharyngeal IX, incisor, mantle layer, molar, phalanx, tarsus, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|37365	OMIM|605223
EN-V1-2	USP31	0.603036222	1.57E-09	Ubiquitin proteasome system protein	BrainSpLMD|57478	
EN-V1-2	TCTEX1D2	1.085048197	1.73E-09	Unclassified	BrainSpLMD|255758	OMIM|617353;HPO|255758|Autosomal recessive inheritance, Brachydactyly, Short stature
EN-V1-2	ATOX1	0.281545072	1.78E-09	Chaperone	BrainSpLMD|475	OMIM|602270
EN-V1-2	EEF2	0.303158877	2.05E-09	Translation regulatory protein	BrainSpLMD|1938	OMIM|130610;HPO|1938|Adult onset, Autosomal dominant inheritance, Cerebellar atrophy, Dysarthria, Dysmetric saccades, Gait ataxia, Impaired horizontal smooth pursuit, Incoordination, Limb ataxia, Nystagmus, Slow progression, Truncal ataxia
EN-V1-2	C6ORF174	0.657930759	2.10E-09			
EN-V1-2	TNPO1	0.457567057	2.12E-09	Transport/cargo protein	BrainSpLMD|3842	OMIM|602901
EN-V1-2	NMNAT2	0.420320505	2.36E-09	Unclassified;Enzyme: Transferase	BrainSpLMD|23057;Eurexp|euxassay_007621|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, medulla oblongata, metencephalon, midbrain, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608701
EN-V1-2	BCAP29	0.862187625	2.63E-09	Integral membrane protein	BrainSpLMD|55973;Eurexp|euxassay_000840|dorsal root ganglion, lobe, submandibular gland primordium, thymus primordium, vagus X, ventricular layer, vibrissa	
EN-V1-2	MOK	0.543937607	2.68E-09	Serine/threonine kinase	BrainSpLMD|5891	OMIM|605762
EN-V1-2	CELF5	0.474505992	2.76E-09	RNA binding protein	BrainSpLMD|60680	OMIM|612680
EN-V1-2	NUAK1	0.372769624	2.84E-09	Enzyme: Phosphotransferase	BrainSpLMD|9891;Eurexp|euxassay_010978|aorta, axial skeleton, clavicle, dorsal root ganglion, incisor, mandible, mantle layer, maxilla, metanephros, molar, neural retina, olfactory, orbito-sphenoid, trigeminal V, vibrissa, vomeronasal organ	SFARI||Autism, 3 - Suggestive evidence;OMIM|608130
EN-V1-2	SC5D	0.849635746	3.06E-09	Enzyme: Oxidase	BrainSpLMD|6309;Eurexp|euxassay_003227|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X	OMIM|602286;HPO|6309|Abnormal platelet morphology, Abnormality of the thoracic spine, Anisopoikilocytosis, Anteverted nares, Arnold-Chiari malformation, Autosomal recessive inheritance, Biparietal narrowing, Bulbous nose, Cataract, Cerebellar cortical atrophy, Cerebral calcification, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus, Failure to thrive, Full cheeks, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hearing impairment, Hepatic failure, Hepatomegaly, High palate, Horseshoe kidney, Hypoplasia of penis, Increased mean platelet volume, Intrahepatic cholestasis, Intrauterine growth retardation, Long philtrum, Lumbosacral meningocele, Meningocele, Microcephaly, Microcornea, Micrognathia, Muscular hypotonia, Myoclonus, Narrow forehead, Opacification of the corneal stroma, Postaxial foot polydactyly, Postaxial hand polydactyly, Prominent metopic ridge, Ptosis, Seizures, Short nose, Sloping forehead, Specific learning disability, Talipes, Thrombocytopenia, Toe syndactyly
EN-V1-2	NDUFA5	0.330530637	3.11E-09	Enzyme: Oxidoreductase	BrainSpLMD|4698	SFARI||Autism, 4 - Minimal evidence;OMIM|601677
EN-V1-2	PPA1	0.468397195	3.12E-09	Enzyme: Phosphohydrolase	BrainSpLMD|5464;Eurexp|euxassay_004470|bladder, cranium, forelimb, hindlimb, incisor, lung, mandible, maxilla, mesenchyme, metanephros, midgut, nasal septum, olfactory, orbito-sphenoid, palatal shelf, pancreas, respiratory, submandibular gland primordium, tail, turbinate bones, vibrissa	OMIM|179030
EN-V1-2	TLE3	0.326172068	3.33E-09	Transcription regulatory protein	BrainSpLMD|7090;BrainSpMouseDev|21646	OMIM|600190
EN-V1-2	INSR	0.350436358	3.38E-09	Receptor tyrosine kinase	BrainSpLMD|3643;Eurexp|euxassay_011041|adrenal gland;BrainSpMouseDev|16110	OMIM|147670;HPO|3643|Abdominal distention, Abnormal C-peptide level, Abnormal facial shape, Abnormality of the abdominal wall, Abnormality of the thyroid gland, Acanthosis nigricans, Accelerated skeletal maturation, Adipose tissue loss, Advanced eruption of teeth, Autosomal dominant inheritance, Autosomal recessive inheritance, Brachydactyly, Cachexia, Cholestasis, Clitoral hypertrophy, Coarse facial features, Coarse hair, Cognitive impairment, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Diabetes mellitus, Diabetic ketoacidosis, Dry skin, Elfin facies, Fasting hyperinsulinemia, Fasting hypoglycemia, Fatigue, Feeding difficulties in infancy, Female pseudohermaphroditism, Generalized hirsutism, Generalized hyperpigmentation, Gingival overgrowth, Global developmental delay, Growth hormone excess, Gynecomastia, Hearing abnormality, Hepatic fibrosis, Heterogeneous, High palate, High, narrow palate, Hyperglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hyperkeratosis, Hypermelanotic macule, Hypertelorism, Hypertrichosis, Hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Inguinal hernia, Insulin-resistant diabetes mellitus, Intrauterine growth retardation, Large hands, Lipoatrophy, Long foot, Long penis, Low-set ears, Low-set, posteriorly rotated ears, Macrotia, Mandibular prognathia, Nail dysplasia, Onychauxis, Ovarian cyst, Pancreatic islet-cell hyperplasia, Peripheral neuropathy, Postnatal growth retardation, Postprandial hyperglycemia, Precocious puberty, Prematurely aged appearance, Prominent nipples, Proptosis, Proteinuria, Recurrent hypoglycemia, Recurrent infections, Recurrent respiratory infections, Seizures, Severe failure to thrive, Short stature, Skeletal muscle atrophy, Small face, Small for gestational age, Subcutaneous nodule, Thick lower lip vermilion, Thick nail, Thick nasal alae, Thickened nuchal skin fold, Type II diabetes mellitus, Umbilical hernia, Wide mouth
EN-V1-2	TOMM20P4	0.349717133	3.41E-09			
EN-V1-2	EIF4EBP1	0.37135258	3.44E-09	Translation regulatory protein	BrainSpLMD|1978;Eurexp|euxassay_004855|skeletal muscle, vertebral axis muscle system	OMIM|602223
EN-V1-2	ZNF286B	0.398870439	3.58E-09	Unclassified		
EN-V1-2	PDGFA	0.455892702	3.71E-09	Growth factor	Eurexp|euxassay_004036|anterior, axial skeleton, calyces, choroid invagination, choroid plexus, conjunctival sac, diaphragm, epidermis, epithelium, external, footplate, handplate, incisor, left lung, midgut, molar, naso-lacrimal duct, olfactory, oral epithelium, orbito-sphenoid, paraxial mesenchyme, pharyngo-tympanic tube, posterior, primitive seminiferous tubules, rest of mesenchyme, right lung, roof plate, skeletal muscle, stomach, submandibular gland primordium, thymus primordium, trachea, urethra, vertebral axis muscle system, vibrissa, vomeronasal organ;BrainSpMouseDev|18356	OMIM|173430
EN-V1-2	DTNA	0.449587303	3.72E-09	Unclassified	BrainSpLMD|1837;Eurexp|euxassay_010455|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|601239;HPO|1837|Atrial fibrillation, Autosomal dominant inheritance, Congestive heart failure, Hypoplastic left heart, Left ventricular hypertrophy, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Patent ductus arteriosus, Sudden cardiac death, Ventricular arrhythmia, Ventricular septal defect
EN-V1-2	DYRK2	0.599278944	3.72E-09	Tyrosine kinase	BrainSpLMD|8445;Eurexp|euxassay_016272|mantle layer	OMIM|603496
EN-V1-2	RPL7L1	0.269112355	3.82E-09	Ribosomal subunit	Eurexp|euxassay_007021|embryo	OMIM|617417
EN-V1-2	BAIAP2.AS1	0.82596631	3.94E-09			
EN-V1-2	EEF1A1P13	0.471173679	3.96E-09			
EN-V1-2	TCEAL2	0.38947198	4.02E-09	Transcription regulatory protein	BrainSpLMD|140597	
EN-V1-2	RYR2	0.857440323	4.02E-09	Intracellular ligand gated channel	BrainSpLMD|6262	OMIM|180902;HPO|6262|Autosomal dominant inheritance, Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardias, Right ventricular cardiomyopathy, Seizures, Sudden death, Syncope, Ventricular arrhythmia, Ventricular tachycardia, Vertigo
EN-V1-2	CHCHD3	0.299814377	4.20E-09	Unclassified	BrainSpLMD|54927;Eurexp|euxassay_001805|lobe, orbito-sphenoid, thymus primordium	OMIM|613748
EN-V1-2	PUS7L	0.545348829	4.50E-09	Unclassified	BrainSpLMD|83448;Eurexp|euxassay_001354|incisor, lung, ventricle	
EN-V1-2	NDUFA12	0.384230015	4.72E-09	Enzyme: Oxidoreductase	BrainSpLMD|55967;Eurexp|euxassay_005963|embryo	OMIM|614530;HPO|55967|Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
EN-V1-2	SQLE	0.385586122	4.77E-09	Enzyme: Oxygenase	BrainSpLMD|6713	OMIM|602019
EN-V1-2	PSMB5	0.4463378	5.03E-09	Ubiquitin proteasome system protein	BrainSpLMD|5693;Eurexp|euxassay_005692|embryo	OMIM|600306
EN-V1-2	SLC6A15	0.485712398	5.28E-09	Membrane transport protein	BrainSpLMD|55117;Eurexp|euxassay_012147|choroid invagination, choroid plexus, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, midgut, olfactory, roof plate, stomach, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|607971
EN-V1-2	NOVA2	0.561584968	5.32E-09	RNA binding protein	BrainSpLMD|4858;Eurexp|euxassay_013411|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lung, mantle layer, neural retina, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|601991
EN-V1-2	COX7B	0.353950068	5.73E-09	Enzyme: Oxidase	BrainSpLMD|1349	OMIM|300885;HPO|1349|Abnormal facial shape, Abnormality of retinal pigmentation, Abnormality of the cardiac septa, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Anophthalmia, Aplasia cutis congenita, Arrhythmia, Congenital diaphragmatic hernia, Dermal atrophy, Dilated cardiomyopathy, Erythema, Global developmental delay, Hyperpigmentation of the skin, Hypertelorism, Hypertrophic cardiomyopathy, Hypopigmented skin patches, Mandibular aplasia, Microcephaly, Micrognathia, Microphthalmia, Midface retrusion, Retrognathia, Sclerocornea, Severe short stature, Short chin, Short stature, Vitritis, Wide nasal bridge, Wide nose, X-linked dominant inheritance
EN-V1-2	SRGAP3	0.259974534	6.24E-09	GTPase activating protein	BrainSpLMD|9901	SFARI||Autism, 4 - Minimal evidence;OMIM|606525;COSMIC||pilocytic astrocytoma
EN-V1-2	NUDT3	0.434746889	7.12E-09	Enzyme: Hydrolase	BrainSpLMD|11165	OMIM|609228
EN-V1-2	TTC3P1	0.521137588	7.23E-09			
EN-V1-2	ATP8A2	0.499525224	7.78E-09	ATPase	BrainSpLMD|51761;Eurexp|euxassay_009705|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605870;HPO|51761|Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Cerebral palsy, Congenital onset, Corpus callosum atrophy, Dysarthria, Gait disturbance, Hyperreflexia, Inability to walk, Intellectual disability, Muscular hypotonia, Seizures, Short stature, Skeletal muscle atrophy, Strabismus, Truncal ataxia
EN-V1-2	AASDHPPT	0.273350109	8.20E-09	Enzyme: Dehydrogenase	BrainSpLMD|60496	OMIM|607756
EN-V1-2	SERINC1	0.430978667	8.49E-09	Integral membrane protein	BrainSpLMD|57515;Eurexp|euxassay_003005|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614548
EN-V1-2	CAMK2G	0.546906967	8.73E-09	Serine/threonine kinase	BrainSpLMD|818;Eurexp|euxassay_017931|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602123
EN-V1-2	DTX4	0.717797658	9.29E-09	Ubiquitin proteasome system protein	Eurexp|euxassay_015898|floor plate, floorplate, ventricular layer;BrainSpMouseDev|83873	OMIM|616110
EN-V1-2	WASF1	0.273279485	9.57E-09	Adapter molecule	BrainSpLMD|8936;Eurexp|euxassay_004192|brain, dorsal root ganglion, glossopharyngeal IX, incisor, molar, spinal cord, trigeminal V, vagus X	OMIM|605035
EN-V1-2	CAPZA2	0.455058598	1.04E-08	Cytoskeletal protein	BrainSpLMD|830;Eurexp|euxassay_017154|basal plate, dorsal root ganglion, glossopharyngeal IX, submandibular gland primordium, thymus primordium, trigeminal V, ventral grey horn, vibrissa	OMIM|601571
EN-V1-2	CDH4	0.743477263	1.05E-08	Adhesion molecule	BrainSpLMD|1002;BrainSpMouseDev|12346	OMIM|603006
EN-V1-2	DYNLT1	0.582818397	1.07E-08	Unclassified	BrainSpLMD|6993;Eurexp|euxassay_007062|embryo	OMIM|601554
EN-V1-2	LINC00657	0.255300955	1.09E-08			
EN-V1-2	RPS23	0.406548172	1.27E-08	Ribosomal subunit	BrainSpLMD|6228	OMIM|603683;HPO|6228|Abnormality of the pinna, Autistic behavior, Autosomal dominant inheritance, Cleft palate, Conductive hearing impairment, Depressed nasal bridge, Epicanthus, Flat occiput, Generalized hypotonia, High palate, Highly arched eyebrow, Increased number of teeth, Intellectual disability, mild, Long eyelashes, Low-set ears, Microcephaly, Motor delay, Short stature, Single transverse palmar crease, Thick eyebrow
EN-V1-2	RP4.706A16.3	0.370509729	1.27E-08			
EN-V1-2	ATP2B1	0.357417202	1.30E-08	ATPase	BrainSpLMD|490	OMIM|108731
EN-V1-2	PTPN4	0.575335164	1.31E-08	Tyrosine phosphatase	BrainSpLMD|5775;Eurexp|euxassay_009725|mantle layer, marginal layer, ventricular layer	OMIM|176878
EN-V1-2	GPR22	0.583689254	1.33E-08	G protein coupled receptor	BrainSpLMD|2845	OMIM|601910
EN-V1-2	AP3B2	0.282821088	1.42E-08	Transport/cargo protein	BrainSpLMD|8120;Eurexp|euxassay_014714|adrenal gland, brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, testis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|602166;HPO|8120|Absent speech, Autosomal recessive inheritance, Dyskinesia, Epileptic encephalopathy, Generalized hypotonia, Global developmental delay, Poor eye contact, Rod-cone dystrophy
EN-V1-2	SEC11C	0.604742394	1.53E-08	Aminopeptidase	BrainSpLMD|90701;Eurexp|euxassay_003588|clavicle, olfactory, orbito-sphenoid, submandibular gland primordium, thymus primordium, trachea	
EN-V1-2	RFPL1S	0.383181788	1.76E-08			OMIM|605972
EN-V1-2	DHCR24	0.590902594	1.84E-08	Enzyme: Reductase	BrainSpLMD|1718;Eurexp|euxassay_011628|adrenal gland, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lobe, lung, mantle layer, marginal layer, midgut, molar, neural retina, olfactory, pharyngo-tympanic tube, rectum, respiratory, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ	OMIM|606418;HPO|1718|Absent septum pellucidum, Agenesis of corpus callosum, Anteverted nares, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Bifid uvula, Depressed nasal bridge, Failure to thrive, Feeding difficulties, Hydrocephalus, Intellectual disability, Intrauterine growth retardation, Large earlobe, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscle stiffness, Narrow mouth, Nystagmus, Partial agenesis of the corpus callosum, Phenotypic variability, Relative macrocephaly, Retrognathia, Rigidity, Seizures, Severe short stature, Short nose, Spasticity, Status epilepticus, Strabismus, Submucous cleft hard palate, Ventriculomegaly
EN-V1-2	PPP2R5E	0.385211725	1.84E-08	Regulatory/other subunit	BrainSpLMD|5529	OMIM|601647
EN-V1-2	DOPEY2	0.465216197	1.86E-08	Unclassified	BrainSpLMD|9980	OMIM|604803
EN-V1-2	VASH2	0.914144026	1.97E-08	Unclassified	BrainSpLMD|79805	OMIM|610471
EN-V1-2	CEP170P1	0.471838313	2.22E-08			
EN-V1-2	PLEKHA1	0.566290155	2.24E-08	Adapter molecule	BrainSpLMD|59338;Eurexp|euxassay_013789|brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, left lung, neural retina, olfactory, primitive seminiferous tubules, right lung, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607772
EN-V1-2	ARG2	1.012255385	2.37E-08	Enzyme: Hydrolase	BrainSpLMD|384;Eurexp|euxassay_018868|cortex, vibrissa	OMIM|107830
EN-V1-2	SNX7	0.630234212	2.39E-08	Unclassified	BrainSpLMD|51375	OMIM|614904
EN-V1-2	SYT14	0.588668393	2.60E-08	Membrane transport protein	BrainSpLMD|255928	OMIM|610949;HPO|255928|Autosomal recessive inheritance, Cerebellar atrophy, Dysarthria, Global developmental delay, Impaired smooth pursuit, Limb ataxia, Slow progression, Truncal ataxia
EN-V1-2	EIF3L	0.407602458	2.74E-08	Translation regulatory protein	BrainSpLMD|51386;Eurexp|euxassay_001532|thymus primordium	
EN-V1-2	LRRTM4	0.488669126	2.85E-08	Integral membrane protein	BrainSpLMD|80059;Eurexp|euxassay_013925|mantle layer, marginal layer, tegmentum	OMIM|610870
EN-V1-2	PTP4A1	0.412317819	3.12E-08	Tyrosine phosphatase	BrainSpLMD|7803;Eurexp|euxassay_018527|adrenal gland, cervical, cervico-thoracic, forebrain, hindbrain, incisor, lung, midbrain, neural retina, olfactory, spinal cord, stomach, submandibular gland primordium, thoracic, wall	OMIM|601585
EN-V1-2	SYBU	0.888020186	3.19E-08		BrainSpLMD|55638;Eurexp|euxassay_006982|corpus striatum, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mandible, mantle layer, marginal layer, maxilla, midbrain, nasal cavity, olfactory cortex, pancreas, retina, spinal cord, stomach, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611568
EN-V1-2	CSAD	0.845801558	3.62E-08	Enzyme: Decarboxylase	BrainSpLMD|51380	OMIM|616569
EN-V1-2	MTCH2	0.605363755	3.69E-08	Unclassified	BrainSpLMD|23788;Eurexp|euxassay_002498|axial muscle, dorsal root ganglion, mantle layer, orbito-sphenoid, trigeminal V	OMIM|613221
EN-V1-2	FAXC	1.136388472	3.70E-08	Unclassified	BrainSpLMD|84553	
EN-V1-2	LIN7C	0.329658005	3.71E-08	Unclassified	BrainSpLMD|55327	OMIM|612332
EN-V1-2	RIC3	0.419018191	3.73E-08	Integral membrane protein	BrainSpLMD|79608	OMIM|610509
EN-V1-2	ERC2	0.612955564	3.93E-08	Cytoskeletal associated protein	BrainSpLMD|26059;Eurexp|euxassay_003848|adenohypophysis, adrenal gland, bladder, brain, cervical, cervico-thoracic, dermis, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, lung, metanephros, midgut, oesophagus, olfactory, retina, spinal cord, stomach, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|617250
EN-V1-2	LPPR4	0.906126171	4.02E-08			
EN-V1-2	ACACA	0.287272703	4.04E-08	Enzyme: Carboxylase	BrainSpLMD|31;Eurexp|euxassay_018925|axial muscle, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mantle layer, midgut, neural retina, oesophagus, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|200350;HPO|31|Autosomal recessive inheritance, Generalized hypotonia, Growth delay, Myopathy
EN-V1-2	POLR1D	0.280590217	4.16E-08	RNA polymerase	BrainSpLMD|51082;Eurexp|euxassay_002352|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|19781	OMIM|613715;HPO|51082|Abnormality of bone mineral density, Absent eyelashes, Autosomal dominant inheritance, Choanal atresia, Choanal stenosis, Cleft eyelid, Cleft palate, Conductive hearing impairment, Downslanted palpebral fissures, Frontal bossing, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Iris coloboma, Low anterior hairline, Malar flattening, Micrognathia, Microtia, Midface retrusion, Narrow internal auditory canal, Open bite, Reduced number of teeth, Retrognathia, Short face, Skeletal dysplasia, Strabismus, Visual impairment, Wide nasal bridge
EN-V1-2	AKR1C2	0.804926459	4.22E-08	Enzyme: Dehydrogenase	BrainSpLMD|1646	OMIM|600450;HPO|1646|Ambiguous genitalia, Autosomal recessive inheritance, Cryptorchidism, Male pseudohermaphroditism, Sex reversal
EN-V1-2	GTF2H5	0.615143437	4.28E-08	Transcription factor	BrainSpLMD|404672;Eurexp|euxassay_003129|cervical, cervico-thoracic, chondrocranium, clavicle, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, marginal layer, oesophagus, olfactory, oral epithelium, pancreas, submandibular gland primordium, thoracic, thymus primordium, tooth, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42310	OMIM|608780;HPO|404672|Asthma, Autosomal recessive inheritance, Brittle hair, Cataract, Congenital nonbullous ichthyosiform erythroderma, Decreased fertility, Erythroderma, Intellectual disability, Joint contracture of the hand, Short stature, Tiger tail banding
EN-V1-2	CELF2.AS2	0.770957331	4.38E-08			
EN-V1-2	GPR27	1.403251654	4.38E-08	G protein coupled receptor	BrainSpLMD|2850	OMIM|605187
EN-V1-2	SLITRK5	0.689484324	4.81E-08	Integral membrane protein	BrainSpLMD|26050	SFARI||Autism, No category;OMIM|609680
EN-V1-2	BTF3L4	0.27856827	5.27E-08	Unclassified	BrainSpLMD|91408;Eurexp|euxassay_006570|embryo	
EN-V1-2	LINC01122	0.360760227	5.29E-08			
EN-V1-2	PIP4K2A	0.445306223	5.69E-08	Lipid Kinase	BrainSpLMD|5305;Eurexp|euxassay_018594|basal plate, dorsal root ganglion, foregut-midgut junction, head mesenchyme, hindgut, incisor, lobe, loop, lumen, mantle layer, medullary stroma, mesenchyme, midgut, olfactory, rectum, stomach, testis, thymus primordium, ventral grey horn, vertebral axis muscle system, vomeronasal organ	OMIM|603140
EN-V1-2	PCMT1	0.536843646	5.81E-08	Enzyme: Methyltransferase	BrainSpLMD|5110	OMIM|176851
EN-V1-2	GRB2	0.377680231	5.95E-08	Adapter molecule	BrainSpLMD|2885	OMIM|108355
EN-V1-2	GNB1	0.26776634	6.11E-08	G protein	BrainSpLMD|2782	OMIM|139380;HPO|2782|Acute lymphoblastic leukemia, Autosomal dominant inheritance, EEG abnormality, Failure to thrive, Generalized hypotonia, Global developmental delay, Impaired smooth pursuit, Infantile onset, Intellectual disability, Limb hypertonia, Nystagmus, Polygenic inheritance, Seizures, Strabismus
EN-V1-2	CTC.308K20.3	0.434602153	6.36E-08			
EN-V1-2	PFDN2	0.259657894	6.41E-08	Chaperone	BrainSpLMD|5202	OMIM|613466
EN-V1-2	CACNB4	0.833670884	6.45E-08	Voltage gated channel	BrainSpLMD|785;Eurexp|euxassay_010369|marginal layer	OMIM|601949;HPO|785|Autosomal dominant inheritance, Dysarthria, Episodic ataxia, Gaze-evoked nystagmus, Incomplete penetrance, Vertigo
EN-V1-2	CNRIP1	1.187595351	7.19E-08	Unclassified	BrainSpLMD|25927	
EN-V1-2	UACA	0.827549697	7.90E-08	Unclassified	BrainSpLMD|55075	OMIM|612516
EN-V1-2	EFR3B	0.350341115	8.08E-08	Unclassified	BrainSpLMD|22979	OMIM|616797
EN-V1-2	RP11.806K15.1	0.327807131	9.64E-08			
EN-V1-2	AGAP1	0.492772097	9.87E-08	GTPase activating protein	BrainSpLMD|116987;Eurexp|euxassay_015873|basal plate, cerebellum, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, medulla oblongata, molar, neural retina, olfactory, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, 4 - Minimal evidence;OMIM|608651
EN-V1-2	NCAN	0.439390343	9.96E-08	Extracellular matrix protein	BrainSpLMD|1463;Eurexp|euxassay_015922|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, intermediate grey horn, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, ventral grey horn, vestibulocochlear VIII	OMIM|600826
EN-V1-2	SLC35B4	0.617134217	1.05E-07	Membrane transport protein	BrainSpLMD|84912;Eurexp|euxassay_006950|calyces, left lung, mantle layer, pharyngo-tympanic tube, renal/urinary system, right lung, thymus primordium, turbinate bones, vagus X	OMIM|610923
EN-V1-2	UBE2QL1	0.902880756	1.05E-07		Eurexp|euxassay_007895|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, spinal cord, telencephalon, trigeminal V	OMIM|615832
EN-V1-2	SEH1L	0.336224644	1.26E-07	Unclassified	BrainSpLMD|81929	OMIM|609263
EN-V1-2	LRRN3	0.825050948	1.32E-07	Integral membrane protein	BrainSpLMD|54674;Eurexp|euxassay_015911|cervical, cervico-thoracic, ear, facial VII, glossopharyngeal IX, lip, mantle layer, marginal layer, medulla, neural retina, olfactory, pituitary, stomach, thoracic, trachea, trigeminal V, ventral grey horn, vestibular component, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16751	
EN-V1-2	ATP6V1H	0.294452569	1.39E-07	ATPase	BrainSpLMD|51606;Eurexp|euxassay_000538|brain, central nervous system, ganglion, nerve, spinal cord	OMIM|608861
EN-V1-2	EXOC6B	0.330183583	1.43E-07	Unclassified		SFARI||Autism, No category;OMIM|607880
EN-V1-2	PFDN4	0.532440306	1.43E-07	Chaperone	BrainSpLMD|5203	OMIM|604898
EN-V1-2	MT.TN	0.333631563	1.56E-07			
EN-V1-2	ZNF33B	0.637911533	1.75E-07			OMIM|194522
EN-V1-2	RP11.452L6.1	0.411538601	1.77E-07			
EN-V1-2	RNF150	0.656455194	1.86E-07	Ubiquitin proteasome system protein	Eurexp|euxassay_014053|dorsal grey horn, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn, vestibulocochlear VIII	
EN-V1-2	CCDC112	0.50643512	1.87E-07	Unclassified	BrainSpLMD|153733	
EN-V1-2	FBXO25	0.509706383	1.87E-07	Ubiquitin proteasome system protein	BrainSpLMD|26260;Eurexp|euxassay_004436|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V	OMIM|609098
EN-V1-2	SGSM2	0.301133264	1.87E-07	Unclassified	BrainSpLMD|9905	OMIM|611418
EN-V1-2	ARPC4	0.573445193	1.96E-07	Cytoskeletal associated protein	Eurexp|euxassay_002361|dorsal root ganglion	OMIM|604226
EN-V1-2	ANKRD46	0.647204936	2.15E-07	Integral membrane protein	BrainSpLMD|157567;Eurexp|euxassay_007253|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	
EN-V1-2	IDH1	0.297289818	2.47E-07	Enzyme: Dehydrogenase	BrainSpLMD|3417;Eurexp|euxassay_018329|adrenal gland, brain, cervical, cervico-thoracic, clavicle, dorsal root ganglion, glossopharyngeal IX, neural retina, rib, spinal cord, stroma, testis, thoracic, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	OMIM|147700;COSMIC||glioblastoma;HPO|3417|Abnormality of the metaphysis, Bone pain, Exostoses, Hemangiomatosis, Joint stiffness, Micromelia, Multiple enchondromatosis, Osteolysis, Scoliosis, Short stature, Subcutaneous nodule, Venous thrombosis, Visceral angiomatosis
EN-V1-2	NOL4L	0.628349978	2.47E-07	Unclassified	BrainSpLMD|140688;Eurexp|euxassay_006045|ear, olfactory	
EN-V1-2	NDUFS8	0.303000917	2.53E-07	Enzyme: Oxidoreductase	BrainSpLMD|4728	OMIM|602141;HPO|4728|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
EN-V1-2	ST6GAL1	0.439161585	2.56E-07	Enzyme: Sialyltransferase	BrainSpLMD|6480	OMIM|109675
EN-V1-2	SCAMP1	0.334573265	2.86E-07	Membrane transport protein	BrainSpLMD|9522	OMIM|606911
EN-V1-2	ST3GAL1	0.834240664	2.94E-07	Enzyme: Sialyltransferase	BrainSpLMD|6482;Eurexp|euxassay_010981|mandible, mantle layer, sternum, vibrissa	OMIM|607187
EN-V1-2	LIN7A	0.574141258	2.97E-07	Adapter molecule	BrainSpLMD|8825;Eurexp|euxassay_011082|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lung, mantle layer, neural retina, penis, pharyngo-tympanic tube, thoracic, trigeminal V, vagus X, ventral grey horn	OMIM|603380
EN-V1-2	LINC00342	0.643873319	3.11E-07			
EN-V1-2	CCT8	0.56815459	3.13E-07	Chaperone	BrainSpLMD|10694	OMIM|617786
EN-V1-2	HDGFRP3	0.383106316	3.19E-07			
EN-V1-2	NHP2	0.263518017	3.30E-07	Ribonucleoprotein	Eurexp|euxassay_002168|axial muscle, orbito-sphenoid	OMIM|606470;HPO|55651|Abnormal blistering of the skin, Abnormality of coagulation, Abnormality of female internal genitalia, Abnormality of neutrophils, Abnormality of the fingernails, Abnormality of the pharynx, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic anemia, Aplastic/hypoplastic toenail, Autosomal recessive inheritance, Bone marrow hypocellularity, Carious teeth, Cellular immunodeficiency, Cirrhosis, Esophageal stenosis, Esophageal stricture, Global developmental delay, Growth delay, Hepatic fibrosis, Hyperhidrosis, Hypermelanotic macule, Hyperpigmentation of the skin, Hypodontia, Hypopigmented skin patches, Increased lacrimation, Intellectual disability, Intrauterine growth retardation, Malabsorption, Microcephaly, Microdontia, Nail dysplasia, Nail dystrophy, Nasolacrimal duct obstruction, Oral leukoplakia, Osteoporosis, Pancytopenia, Periodontitis, Phenotypic variability, Pterygium of nails, Pulmonary fibrosis, Recurrent fractures, Recurrent respiratory infections, Reticulated skin pigmentation, Rough bone trabeculation, Short stature, Skin ulcer, Small nail, Sparse eyelashes, Sparse hair, Sparse scalp hair, Taurodontia, Telangiectasia of the skin, Testicular atrophy, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis
EN-V1-2	KBTBD6	0.433599624	3.45E-07	Unclassified	BrainSpLMD|89890	OMIM|617738
EN-V1-2	KIAA1324	0.722449723	3.73E-07	Unclassified	BrainSpLMD|57535	OMIM|611298
EN-V1-2	LPHN1	0.868907898	3.79E-07			
EN-V1-2	LSM12	0.355200291	3.84E-07	Unclassified		OMIM|611793
EN-V1-2	FTO	0.467425472	3.91E-07	Unclassified	BrainSpLMD|79068	OMIM|610966;HPO|79068|Anteverted nares, Autosomal recessive inheritance, Bifid uvula, Brachydactyly, Cleft palate, Coarse facial features, Cryptorchidism, Cutis marmorata, Dandy-Walker malformation, Failure to thrive, Global developmental delay, Hydrocephalus, Hypertonia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Lissencephaly, Macroglossia, Microcephaly, Obesity, Patent ductus arteriosus, Protruding tongue, Retrognathia, Seizures, Sensorineural hearing impairment, Short neck, Skull asymmetry, Small nail, Umbilical hernia, Ventricular septal defect
EN-V1-2	TRIT1	0.250843263	4.06E-07	Enzyme: Transferase	BrainSpLMD|54802	
EN-V1-2	WDR13	0.406907437	4.06E-07	Transcription regulatory protein	BrainSpLMD|64743	OMIM|300512
EN-V1-2	RASSF2	0.497094624	4.12E-07	Cell cycle control protein	BrainSpLMD|9770;Eurexp|euxassay_010507|meninges, valve, ventricular layer	OMIM|609492
EN-V1-2	HERC3	0.688526239	4.59E-07	Ubiquitin proteasome system protein	BrainSpLMD|8916;Eurexp|euxassay_007296|Meckel's cartilage, brain, dorsal root ganglion, left lung, mesenchyme, oesophagus, otic capsule, pharyngo-tympanic tube, pituitary, right lung, spinal cord	OMIM|605200
EN-V1-2	STAG3L4	0.680182175	4.71E-07	Unclassified	BrainSpLMD|64940	
EN-V1-2	PSMD1	0.321657684	4.75E-07	Ubiquitin proteasome system protein	BrainSpLMD|5707;Eurexp|euxassay_016545|dorsal root ganglion, lung, mantle layer, olfactory, thymus primordium, ventral grey horn	
EN-V1-2	RP5.857K21.7	0.890639521	4.80E-07			
EN-V1-2	FAM127A	0.503644012	4.83E-07			
EN-V1-2	COMMD7	0.519699146	5.00E-07	Unclassified		OMIM|616703
EN-V1-2	RNF165	0.494132731	5.05E-07		BrainSpLMD|494470	
EN-V1-2	L3MBTL3	0.335742701	5.10E-07	Transcription regulatory protein	BrainSpLMD|84456	
EN-V1-2	TNR	0.557920057	5.14E-07	Extracellular matrix protein	BrainSpLMD|7143;Eurexp|euxassay_012507|mantle layer, tegmentum, ventral grey horn	OMIM|601995
EN-V1-2	SLC25A4	0.517376685	5.14E-07	Transport/cargo protein	BrainSpLMD|291	OMIM|103220;HPO|291|Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Congenital onset, Cytochrome C oxidase-negative muscle fibers, EMG: myopathic abnormalities, Exercise intolerance, Facial palsy, Generalized hypotonia, Generalized muscle weakness, Heterogeneous, Hypertrophic cardiomyopathy, Hyporeflexia, Lactic acidosis, Multiple mitochondrial DNA deletions, Myalgia, Myopathy, Myopia, Nystagmus, Progressive, Progressive external ophthalmoplegia, Ptosis, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Slow progression, Strabismus, Subsarcolemmal accumulations of abnormally shaped mitochondria
EN-V1-2	ANP32A	0.375955659	5.28E-07	MHC complex protein	BrainSpLMD|8125;Eurexp|euxassay_005670|embryo	OMIM|600832
EN-V1-2	ZNF195	0.333878459	5.45E-07	Transcription factor	BrainSpLMD|7748	OMIM|602187
EN-V1-2	TTC39C	0.424577746	5.50E-07	Unclassified	BrainSpLMD|125488;Eurexp|euxassay_007378|anterior, brain, clavicle, dorsal root ganglion, external, facial VII, glossopharyngeal IX, medulla, primitive seminiferous tubules, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	
EN-V1-2	SEMA4D	0.717537937	5.53E-07	Integral membrane protein	BrainSpLMD|10507;BrainSpMouseDev|20117	OMIM|601866
EN-V1-2	PACS2	0.666393952	5.76E-07	Unclassified	BrainSpLMD|23241;Eurexp|euxassay_011397|brain, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, spinal cord, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|610423
EN-V1-2	AFAP1	0.370140542	6.29E-07	Adapter molecule	BrainSpLMD|60312	OMIM|608252
EN-V1-2	EBP	0.665862968	6.37E-07	Enzyme: Isomerase	BrainSpLMD|10682;Eurexp|euxassay_010690|lobe, mandible, maxilla, orbito-sphenoid	OMIM|300205;HPO|10682|2-3 toe syndactyly, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the pinna, Abnormality of the thorax, Alopecia, Aortic valve stenosis, Bilateral talipes equinovarus, Cataract, Concave nasal ridge, Congenital ichthyosiform erythroderma, Congenital onset, Cryptorchidism, Dandy-Walker malformation, Downslanted palpebral fissures, Edema, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol, Epicanthus, Epiphyseal stippling, Erythema, Erythroderma, Failure to thrive, Flat face, Frontal bossing, Generalized hypotonia, Glaucoma, Global developmental delay, Hearing impairment, Hemiatrophy, Hemivertebrae, High palate, Hydrocephalus, Hydronephrosis, Hyperactivity, Ichthyosis, Intellectual disability, Intellectual disability, moderate, Joint dislocation, Kyphosis, Long fingers, Low-set ears, Malar flattening, Microphthalmia, Microretrognathia, Midface retrusion, Nystagmus, Optic atrophy, Overlapping fingers, Overlapping toe, Patellar dislocation, Phenotypic variability, Polydactyly, Polyhydramnios, Postnatal growth retardation, Prominent nasal bridge, Ptosis, Punctate vertebral calcifications, Scarring alopecia of scalp, Scoliosis, Seizures, Short neck, Short stature, Sparse and thin eyebrow, Sparse eyelashes, Stippled calcification in carpal bones, Tarsal stippling, Tracheal calcification, Tracheal stenosis, Variable expressivity, X-linked dominant inheritance, X-linked recessive inheritance
EN-V1-2	MRPL48	0.34018785	6.70E-07	Ribosomal subunit	BrainSpLMD|51642	OMIM|611853
EN-V1-2	FAM19A5	0.455763068	8.01E-07	Chemokine	BrainSpLMD|25817;Eurexp|euxassay_011592|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, marginal layer, spinal cord, trigeminal V, vagus X	OMIM|617499
EN-V1-2	ZHX1	0.576174566	8.21E-07	Transcription factor	BrainSpLMD|11244;BrainSpMouseDev|22527	OMIM|604764
EN-V1-2	DNAH10	0.908756793	8.39E-07	Cytoskeletal protein	BrainSpLMD|196385	SFARI||Autism, No category;OMIM|605884
EN-V1-2	SV2A	0.510722115	9.06E-07	Integral membrane protein	BrainSpLMD|9900	OMIM|185860
EN-V1-2	RPS4Y1	0.378653742	9.28E-07	Ribosomal subunit	BrainSpLMD|6192;BrainSpMouseDev|19865	OMIM|470000
EN-V1-2	ARHGEF12	0.390370711	9.45E-07	Guanine nucleotide exchange factor	BrainSpLMD|23365	OMIM|604763;COSMIC||AML
EN-V1-2	BMS1P1	0.434301472	9.76E-07		BrainSpLMD|399761	
EN-V1-2	ANKH	0.679107024	1.03E-06	Membrane transport protein	BrainSpLMD|56172	OMIM|605145;HPO|56172|Abnormality of pelvic girdle bone morphology, Abnormality of the intervertebral disk, Abnormality of the metaphysis, Abnormality of the nasopharynx, Abnormality of the vertebral column, Adult onset, Arthralgia, Arthritis, Arthropathy, Autosomal dominant inheritance, Bony paranasal bossing, Calcification of cartilage, Calvarial osteosclerosis, Club-shaped distal femur, Craniofacial hyperostosis, Depressed nasal bridge, Erlenmeyer flask deformity of the femurs, Facial palsy, Hypertelorism, Joint swelling, Macrocephaly, Mandibular prognathia, Metaphyseal widening, Misalignment of teeth, Mixed hearing impairment, Nasal obstruction, Osteoarthritis, Osteopetrosis, Polyarticular chondrocalcinosis, Sclerosis of skull base, Skeletal dysplasia, Telecanthus, Wide nasal bridge
EN-V1-2	EPM2AIP1	0.424615353	1.06E-06	Unclassified	BrainSpLMD|9852	OMIM|607911
EN-V1-2	LDOC1	0.481223718	1.06E-06	Transcription regulatory protein	BrainSpLMD|23641	OMIM|300402
EN-V1-2	BDP1	0.421877428	1.11E-06	Transcription factor	BrainSpLMD|55814;Eurexp|euxassay_019513|dorsal root ganglion, incisor, lung, midgut, nucleus pulposus, submandibular gland primordium, vibrissa	OMIM|607012
EN-V1-2	TTLL7	0.387479631	1.14E-06	Enzyme: Ligase	BrainSpLMD|79739	
EN-V1-2	LPPR1	0.275083074	1.16E-06			
EN-V1-2	NCK2	0.279622113	1.20E-06	Adapter molecule	BrainSpLMD|8440;BrainSpMouseDev|17741	OMIM|604930
EN-V1-2	ZNF506	0.443174551	1.30E-06	Transcription factor	BrainSpLMD|440515	
EN-V1-2	GLS	0.373833772	1.35E-06	Enzyme: Deaminase	BrainSpLMD|2744;BrainSpMouseDev|14436	OMIM|138280
EN-V1-2	C16orf45	0.523318766	1.46E-06	Unclassified	BrainSpLMD|89927;Eurexp|euxassay_002917|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, penis, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
EN-V1-2	ABRACL	0.30991447	1.50E-06	Unclassified	BrainSpLMD|58527	
EN-V1-2	GRIA3	0.321301835	1.54E-06	Extracellular ligand gated channel	BrainSpLMD|2892;BrainSpMouseDev|32941	OMIM|305915;HPO|2892|Aggressive behavior, Brachycephaly, Deeply set eye, Intellectual disability, Intellectual disability, severe, Prominent supraorbital ridges, Short stature, X-linked recessive inheritance
EN-V1-2	ARL10	0.641342401	1.59E-06	GTPase	BrainSpLMD|285598;BrainSpMouseDev|36074	
EN-V1-2	EIF1B	0.492656654	1.67E-06	Translation regulatory protein	BrainSpLMD|10289;Eurexp|euxassay_011475|mantle layer, ventricular layer	
EN-V1-2	FAM228B	0.438532925	1.72E-06			
EN-V1-2	CNTN2	0.457855328	1.83E-06	Adhesion molecule	BrainSpLMD|6900;Eurexp|euxassay_000546|alar columns, dorsal root ganglion, epithalamic recess, glossopharyngeal IX, hypothalamus, lateral wall, mantle layer, marginal layer, neural retina, spinal cord, thalamus, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|21128	OMIM|190197;HPO|6900|Autosomal recessive inheritance, EEG abnormality, Focal seizures, Generalized seizures, Generalized tonic-clonic seizures, Hand tremor, Myoclonus, Seizures, Tremor
EN-V1-2	SYP	0.460169983	1.90E-06	Transport/cargo protein	BrainSpLMD|6855	OMIM|313475;HPO|6855|Intellectual disability, X-linked dominant inheritance
EN-V1-2	ACAP3	0.633928533	1.96E-06	Unclassified	BrainSpLMD|116983	
EN-V1-2	RGL1	0.817795387	2.12E-06	Guanine nucleotide exchange factor	BrainSpLMD|23179	OMIM|605667
EN-V1-2	PA2G4	0.268941676	2.16E-06	Transcription regulatory protein	BrainSpLMD|5036	OMIM|602145
EN-V1-2	TRAPPC2	0.468767193	2.17E-06	Transcription regulatory protein	BrainSpLMD|6399;Eurexp|euxassay_005400|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|300202;HPO|6399|Abnormality of epiphysis morphology, Arthralgia, Barrel-shaped chest, Coxa vara, Disproportionate short stature, Disproportionate short-trunk short stature, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Irregular epiphyses, Kyphosis, Limitation of joint mobility, Lumbar hyperlordosis, Opacification of the corneal stroma, Platyspondyly, Scoliosis, Shield chest, Short femoral neck, Short neck, Short thorax, Spondyloepiphyseal dysplasia, Thoracic kyphosis, Upper limb undergrowth, X-linked recessive inheritance
EN-V1-2	ATP6V1E1	0.300304338	2.17E-06	ATPase	BrainSpLMD|529;Eurexp|euxassay_018854|adrenal gland, basal plate, calyces, cochlear component, dorsal root ganglion, facial VII, inferior, superior, testis, trigeminal V, vagus X, vestibular component	OMIM|108746;HPO|529|Abnormal apolipoprotein level, Abnormal isoelectric focusing of serum transferrin, Abnormal subcutaneous fat tissue distribution, Aortic regurgitation, Atrial septal defect, Autosomal recessive inheritance, Bilateral cryptorchidism, Broad columella, Broad nasal tip, Carious teeth, Cerebellar hypoplasia, Coarse hair, Congenital hip dislocation, Dandy-Walker malformation, Decreased body weight, Decreased muscle mass, Delayed closure of the anterior fontanelle, Delayed speech and language development, Dementia, Dental crowding, Disproportionate tall stature, Downslanted palpebral fissures, Entropion, Excessive wrinkled skin, Failure to thrive, Feeding difficulties, Fragmented elastic fibers in the dermis, Generalized hypotonia, Generalized joint laxity, Global developmental delay, Hand clenching, High palate, Hip dysplasia, Hypertelorism, Infantile muscular hypotonia, Inguinal hernia, Intellectual disability, profound, Intrauterine growth retardation, Joint laxity, Knee flexion contracture, Kyphoscoliosis, Laryngomalacia, Lipodystrophy, Lissencephaly, Long philtrum, Low-set ears, Malar flattening, Mitral valve prolapse, Motor delay, Narrow naris, Nystagmus, Pachygyria, Pes planus, Polymicrogyria, Poor speech, Postnatal growth retardation, Progressive microcephaly, Prominent nasolabial fold, Prominent veins on trunk, Psychomotor deterioration, Reduced subcutaneous adipose tissue, Redundant neck skin, Seizures, Severe Myopia, Short nose, Short stature, Smooth philtrum, Sparse hair, Spasticity, Strabismus, Subretinal pigment epithelium hemorrhage, Talipes equinovarus, Thick cerebral cortex, Thick hair, Tricuspid regurgitation
EN-V1-2	INPP5F	0.311854044	2.18E-06	Lipid phosphatase	BrainSpLMD|22876;Eurexp|euxassay_008227|ventricle	OMIM|609389
EN-V1-2	ATP5C1	0.361525906	2.31E-06			
EN-V1-2	SMIM14	0.387500654	2.40E-06	Unclassified	BrainSpLMD|201895;Eurexp|euxassay_007513|brain, choroid invagination, choroid plexus, clavicle, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, liver, mandible, maxilla, neural retina, orbito-sphenoid, rib, roof plate, scapula, spinal cord, tibia, trigeminal V, vagus X, vestibulocochlear VIII	
EN-V1-2	FAHD1	0.72811624	2.40E-06	Unclassified	BrainSpLMD|81889	OMIM|616320
EN-V1-2	MARK1	0.256632158	2.43E-06	Serine/threonine kinase	BrainSpLMD|4139;Eurexp|euxassay_013555|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	SFARI||Autism, 4 - Minimal evidence;OMIM|606511
EN-V1-2	OGT	0.308672088	2.52E-06	Enzyme: Glucosaminyltransferase	BrainSpLMD|8473	SFARI||Autism, No category;OMIM|300255
EN-V1-2	FADS2	0.26244574	2.54E-06	Enzyme: Oxidase	BrainSpLMD|9415	OMIM|606149
EN-V1-2	SPTBN2	0.556688784	2.54E-06	Cytoskeletal associated protein	BrainSpLMD|6712	OMIM|604985;HPO|6712|Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Cognitive impairment, Delayed speech and language development, Dysarthria, Dysdiadochokinesis, Dysmetria, Facial myokymia, Gait ataxia, Gait disturbance, Gaze-evoked nystagmus, Global developmental delay, Hyperreflexia, Impaired smooth pursuit, Impaired vibratory sensation, Incoordination, Infantile onset, Intention tremor, Limb ataxia, Slow progression, Slurred speech
EN-V1-2	SAT2	0.467785514	2.65E-06	Enzyme: Acyltransferase	BrainSpLMD|112483	OMIM|611463
EN-V1-2	MZT2A	0.945370827	2.66E-06	Unclassified	BrainSpLMD|653784	OMIM|613449
EN-V1-2	SRP9P1	0.421334272	2.69E-06			
EN-V1-2	CHMP2B	0.592262825	2.70E-06	Transport/cargo protein	BrainSpLMD|25978;Eurexp|euxassay_017077|dorsal grey horn, intermediate grey horn, mantle layer, ventral grey horn, ventricular layer, vibrissa	OMIM|609512;HPO|25978|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Adult onset, Aggressive behavior, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apathy, Apraxia, Areflexia, Astrocytosis, Autosomal dominant inheritance, Babinski sign, Bulbar signs, Cerebral cortical atrophy, Collectionism, Depressivity, Disinhibition, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphagia, Dysphasia, Dyspnea, Dystonia, EEG with continuous slow activity, Echolalia, Emotional blunting, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontal release signs, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait disturbance, Generalized muscle weakness, Grammar-specific speech disorder, Hyperorality, Hyperreflexia, Hyporeflexia, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Muscle cramps, Mutism, Myoclonus, Neurodegeneration, Neuronal loss in central nervous system, Orofacial dyskinesia, Pain, Paralysis, Perseveration, Personality changes, Poor speech, Rapidly progressive, Respiratory failure, Respiratory insufficiency due to muscle weakness, Restlessness, Restrictive behavior, Rigidity, Skeletal muscle atrophy, Spasticity, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold, Urinary incontinence, Xerostomia
EN-V1-2	SH3GL1	0.341938219	3.08E-06	Unclassified	BrainSpLMD|6455;Eurexp|euxassay_000588|chondrocranium	OMIM|601768;COSMIC||AL
EN-V1-2	ARL3	0.299410348	3.10E-06	GTPase	BrainSpLMD|403	OMIM|604695
EN-V1-2	THRA	0.429728701	3.35E-06	Nuclear receptor	BrainSpLMD|7067;BrainSpMouseDev|21592	SFARI||Autism, No category;OMIM|190120;HPO|7067|Abdominal distention, Anemia, Autosomal dominant inheritance, Coarse facial features, Congenital hip dislocation, Congenital hypothyroidism, Constipation, Delayed eruption of teeth, Delayed skeletal maturation, Drowsiness, Dry skin, Feeding difficulties, Growth delay, Hypertelorism, Hypothyroidism, Increased T3/T4 ratio, Increased body weight, Jaundice, Large fontanelles, Macroglossia, Muscular hypotonia, Omphalocele, Relative macrocephaly, Sleep disturbance, Thyroid hormone receptor defect, Umbilical hernia
EN-V1-2	KIAA1430	0.63788377	3.62E-06			
EN-V1-2	EIF3I	0.277465512	3.78E-06	Translation regulatory protein	BrainSpLMD|8668;Eurexp|euxassay_008278|embryo	OMIM|603911
EN-V1-2	R3HDM2	0.300397342	3.85E-06	Unclassified	BrainSpLMD|22864;Eurexp|euxassay_000306|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X	
EN-V1-2	FBL	0.640006131	4.21E-06	Ribonucleoprotein	BrainSpLMD|2091;Eurexp|euxassay_002909|submandibular gland primordium	OMIM|134795
EN-V1-2	ELL2	0.714019845	4.22E-06	Transcription factor	BrainSpLMD|22936	OMIM|601874
EN-V1-2	SERINC3	0.602272391	4.41E-06	Integral membrane protein	BrainSpLMD|10955;Eurexp|euxassay_004869|dorsal root ganglion, facial VII, glossopharyngeal IX, left, mandible, maxilla, medulla, orbito-sphenoid, right, testis, thymus primordium, trigeminal V	OMIM|607165
EN-V1-2	RP4.756H11.5	0.494060549	4.49E-06			
EN-V1-2	KIAA1191	0.267919881	4.51E-06	Unclassified	BrainSpLMD|57179;Eurexp|euxassay_011470|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	
EN-V1-2	WRB	0.323034222	4.62E-06	Unclassified	BrainSpLMD|7485;Eurexp|euxassay_005059|brain, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, loop, mandible, maxilla, midgut, orbito-sphenoid, rectum, spinal cord, stomach, trigeminal V, vagus X, vestibulocochlear VIII, wall	OMIM|602915
EN-V1-2	SCAMP5	0.82623811	4.73E-06	Integral membrane protein	BrainSpLMD|192683	OMIM|613766
EN-V1-2	SHC3	0.621613707	4.76E-06	Adapter molecule	BrainSpLMD|53358;Eurexp|euxassay_009466|cochlear duct, ventral grey horn, ventricular layer	OMIM|605263
EN-V1-2	MVD	0.531904901	4.89E-06	Enzyme: Decarboxylase	BrainSpLMD|4597	OMIM|603236;HPO|4597|Autosomal dominant inheritance, Cutaneous photosensitivity, Porokeratosis
EN-V1-2	C16orf87	0.477048119	4.99E-06	Unclassified	BrainSpLMD|388272;Eurexp|euxassay_000571|Meckel's cartilage, axial skeleton, head mesenchyme, incisor, lung, oesophagus, otic capsule, turbinate bones, urethra, vertebral axis muscle system	
EN-V1-2	VPS53	0.465530689	5.23E-06	Unclassified	BrainSpLMD|55275	OMIM|615850;HPO|55275|Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Flexion contracture, Global developmental delay, Hypoplasia of the corpus callosum, Infantile onset, Intellectual disability, Intellectual disability, profound, Irritability, Microcephaly, Neonatal hypotonia, Opisthotonus, Osteoporosis, Progressive, Progressive microcephaly, Scoliosis, Seizures, Short stature, Spastic tetraplegia
EN-V1-2	CLMP	0.478328214	5.44E-06		BrainSpLMD|79827;Eurexp|euxassay_001798|mantle layer, marginal layer	OMIM|611693;HPO|79827|Abnormal peristalsis, Autosomal recessive inheritance, Chronic diarrhea, Cognitive impairment, Congenital shortened small intestine, Decreased intestinal transit time, Failure to thrive, Hypotrichosis, Intestinal hypoplasia, Intestinal malrotation, Lipoatrophy, Short stature, Steatorrhea
EN-V1-2	CCDC186	0.521145791	5.49E-06	Unclassified	BrainSpLMD|55088	
EN-V1-2	CAP1	0.287493969	5.54E-06	Unclassified	BrainSpLMD|10487	
EN-V1-2	TSTD1	0.275341312	5.66E-06	Unclassified		OMIM|616041
EN-V1-2	MDH1	0.309817369	5.70E-06	Enzyme: Dehydrogenase	BrainSpLMD|4190	OMIM|154200
EN-V1-2	TMEM50A	0.317608302	6.08E-06	Integral membrane protein		OMIM|605348
EN-V1-2	AKR1A1	0.296927359	6.67E-06	Enzyme: Oxidoreductase	BrainSpLMD|10327	OMIM|103830
EN-V1-2	DLGAP4	0.289133168	6.87E-06	Adapter molecule;Unclassified	BrainSpLMD|22839;Eurexp|euxassay_012602|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|616191
EN-V1-2	CHCHD6	0.437464544	7.07E-06	Unclassified	BrainSpLMD|84303	OMIM|615634
EN-V1-2	DHX29	0.376996303	7.66E-06	RNA helicase	BrainSpLMD|54505	OMIM|612720
EN-V1-2	HCFC1R1	0.446622612	7.67E-06	Transport/cargo protein	BrainSpLMD|54985;Eurexp|euxassay_013570|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, vagus X, ventral grey horn	
EN-V1-2	CPT1C	0.403762971	7.73E-06	Enzyme: Palmitoyltransferase	BrainSpLMD|126129;Eurexp|euxassay_018893|brain, cervical, cervico-thoracic, dorsal root ganglion, drainage component, facial VII, glossopharyngeal IX, marginal layer, medulla, midgut, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608846;HPO|126129|Adult onset, Autosomal dominant inheritance, Babinski sign, Difficulty walking, Hyperreflexia, Proximal muscle weakness, Skeletal muscle atrophy, Slow progression, Spastic paraplegia
EN-V1-2	KIAA1549L	0.492002554	7.82E-06	Unclassified	BrainSpLMD|25758;Eurexp|euxassay_013276|facial VII, mantle layer, marginal layer, ventral grey horn	OMIM|612297
EN-V1-2	JUP	0.381173524	7.96E-06	Adhesion molecule	BrainSpLMD|3728;Eurexp|euxassay_013744|bladder, dorsal root ganglion, epidermis, epithelium, facial VII, glossopharyngeal IX, incisor, larynx, midgut, molar, neural retina, olfactory, oral epithelium, pharyngo-tympanic tube, rectum, stomach, submandibular gland primordium, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|173325;HPO|3728|Acantholysis, Alopecia, Anonychia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cardiomegaly, Cardiomyopathy, Cleft upper lip, Congestive heart failure, Curly hair, Dilated cardiomyopathy, Epidermal acanthosis, Episodes of ventricular tachycardia, Fragile skin, Heterogeneous, Hyperhidrosis, Nail dystrophy, Onycholysis, Oral mucosal blisters, Palmoplantar keratoderma, Right ventricular cardiomyopathy, Skin erosion, Sparse and thin eyebrow, Sparse scalp hair, Sudden death, Syncope, Ventricular arrhythmia, Ventricular tachycardia, Vertigo, Woolly hair
EN-V1-2	PSMB3	0.270145394	7.99E-06	Ubiquitin proteasome system protein	BrainSpLMD|5691;Eurexp|euxassay_003314|dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, incisor, molar, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|602176
EN-V1-2	MORN4	0.485084584	8.07E-06	Unclassified	BrainSpLMD|118812;Eurexp|euxassay_007046|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|617736
EN-V1-2	CRYZL1	0.445984618	8.46E-06	Enzyme: Oxidoreductase	BrainSpLMD|9946	OMIM|603920
EN-V1-2	SMS	0.425015559	8.57E-06	Enzyme: Synthase	Eurexp|euxassay_011541|cervical, cervico-thoracic, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, incisor, left lung, mantle layer, metanephros, molar, neural retina, right lung, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|300105;HPO|6611|Abnormality of the pinna, Bifid uvula, Broad-based gait, Cleft palate, Cryptorchidism, Decreased muscle mass, Dental crowding, Dysarthria, Facial asymmetry, Generalized hypotonia, High, narrow palate, Hyperextensibility of the finger joints, Hypertelorism, Intellectual disability, Kyphoscoliosis, Long fingers, Long hallux, Long palm, Mandibular prognathia, Narrow palm, Nasal speech, Osteoporosis, Pectus carinatum, Pectus excavatum, Phenotypic variability, Recurrent fractures, Seizures, Severe Myopia, Short philtrum, Short stature, Talipes equinovarus, Tall stature, Thick lower lip vermilion, Webbed neck, Wide intermamillary distance, X-linked recessive inheritance
EN-V1-2	TIPRL	0.450045734	8.62E-06	Unclassified	BrainSpLMD|261726	OMIM|611807
EN-V1-2	PREPL	0.560859602	8.77E-06	Serine protease	BrainSpLMD|9581;Eurexp|euxassay_004469|bladder, brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, retina, spinal cord, thoracic, tongue, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII	OMIM|609557;HPO|9581|Autosomal recessive inheritance, Congenital onset, Cystinuria, Decreased fetal movement, Depressed nasal bridge, Dolichocephaly, Epicanthus, Failure to thrive, Fatigue, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, Growth delay, Growth hormone deficiency, Hypocalcemia, Hypogonadism, Intellectual disability, moderate, Lactic acidosis, Long eyelashes, Low-set, posteriorly rotated ears, Mitochondrial respiratory chain defects, Motor delay, Muscular hypotonia, Nasal speech, Nephrolithiasis, Polyphagia, Ptosis, Retrognathia, Seizures, Short stature, Tented upper lip vermilion
EN-V1-2	NDUFB2	0.287189032	8.99E-06	Enzyme: Oxidoreductase	BrainSpLMD|4708;Eurexp|euxassay_008721|basisphenoid bone, exoccipital bone, petrous part, rib	OMIM|603838
EN-V1-2	DAAM1	0.275603802	9.05E-06	Unclassified	BrainSpLMD|23002;BrainSpMouseDev|84026	OMIM|606626
EN-V1-2	AGAP3	0.41129476	9.62E-06	Unclassified	BrainSpLMD|116988	OMIM|616813
EN-V1-2	KIAA1467	0.560126049	1.00E-05			
EN-V1-2	TRIQK	0.709165015	1.01E-05			
EN-V1-2	ERC1	0.276608431	1.05E-05	Regulatory/other subunit	BrainSpLMD|23085	OMIM|607127;COSMIC||papillary thyroid, Spitzoid tumour
EN-V1-2	COPS2	0.478604056	1.15E-05	Transcription regulatory protein	BrainSpLMD|9318	OMIM|604508
EN-V1-2	MCU	0.351330667	1.16E-05	Unclassified	BrainSpLMD|90550;Eurexp|euxassay_014085|diaphragm, floorplate, hindgut, mesenchyme, midgut, skeletal muscle, ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|614197
EN-V1-2	FBXL2	1.062354333	1.29E-05	Ubiquitin proteasome system protein	BrainSpLMD|25827;Eurexp|euxassay_015900|dorsal root ganglion, glossopharyngeal IX, trigeminal V	OMIM|605652
EN-V1-2	RAB6A	0.277446233	1.35E-05	GTPase	BrainSpLMD|5870;Eurexp|euxassay_012532|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, molar, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|179513
EN-V1-2	MTMR6	0.417432719	1.36E-05	Lipid phosphatase	BrainSpLMD|9107;Eurexp|euxassay_008326|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|603561
EN-V1-2	EPRS	0.431803409	1.37E-05	Enzyme: Ligase	BrainSpLMD|2058;Eurexp|euxassay_008064|mandible, maxilla, orbito-sphenoid, rib	OMIM|138295
EN-V1-2	GDAP1L1	0.486879357	1.40E-05	Integral membrane protein	BrainSpLMD|78997;Eurexp|euxassay_011524|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	
EN-V1-2	TP53I11	0.346766369	1.40E-05	Unclassified	BrainSpLMD|9537;Eurexp|euxassay_011840|dorsal root ganglion, glossopharyngeal IX, neural retina, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|93222	
EN-V1-2	PCYOX1	0.553161656	1.41E-05	Enzyme: Oxidase	BrainSpLMD|51449;Eurexp|euxassay_012457|dorsal root ganglion, floor plate, floorplate, glossopharyngeal IX, mantle layer, pituitary, trigeminal V, ventral grey horn, vibrissa	OMIM|610995
EN-V1-2	METAP2	0.347342025	1.43E-05	Translation regulatory protein	BrainSpLMD|10988	OMIM|601870
EN-V1-2	GAB2	0.685431155	1.46E-05	Adapter molecule	BrainSpLMD|9846	OMIM|606203
EN-V1-2	DNM1	0.693986491	1.49E-05	GTPase	BrainSpLMD|1759	OMIM|602377;HPO|1759|Abnormality of brainstem morphology, Absent speech, Aggressive behavior, Atonic seizures, Atypical absence seizures, Autistic behavior, Autosomal dominant inheritance, Developmental regression, Difficulty walking, EEG with focal sharp slow waves, Encephalopathy, Epileptic encephalopathy, Falls, Generalized hypotonia, Generalized tonic seizures, Generalized tonic-clonic seizures, Hyperactivity, Inability to walk, Intellectual disability, Mental deterioration, Myoclonus, Personality disorder, Seizures
EN-V1-2	RABAC1	0.531291518	1.50E-05	GTPase activating protein	BrainSpLMD|10567;Eurexp|euxassay_000239|dorsal root ganglion, facial VII, glossopharyngeal IX, medulla oblongata, metencephalon, spinal, spinal cord, trigeminal V, vagus X	OMIM|604925
EN-V1-2	MIEN1	0.327198479	1.59E-05	Unclassified	BrainSpLMD|84299;Eurexp|euxassay_001703|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|611802
EN-V1-2	STAU2	0.407058773	1.60E-05	RNA binding protein	BrainSpLMD|27067;Eurexp|euxassay_011484|cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605920
EN-V1-2	PRRG3	0.308076377	1.69E-05	Integral membrane protein	BrainSpLMD|79057	OMIM|300685
EN-V1-2	BANF1	0.344436514	1.70E-05	DNA binding protein	BrainSpLMD|8815	OMIM|603811;HPO|8815|Abnormality of the forearm, Abnormality of the ribs, Atherosclerosis, Autosomal recessive inheritance, Convex nasal ridge, Delayed closure of the anterior fontanelle, Dental crowding, Failure to thrive, Flexion contracture, Joint stiffness, Lipoatrophy, Malar flattening, Micrognathia, Midface retrusion, Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Progressive clavicular acroosteolysis, Proptosis, Pulmonary arterial hypertension, Right bundle branch block, Scoliosis, Short stature, Sinus tachycardia, Sparse and thin eyebrow, Sparse eyelashes, Spotty hyperpigmentation, Wide cranial sutures
EN-V1-2	RP11.36C20.1	0.259229795	1.75E-05			
EN-V1-2	EIF5B	0.344753245	1.75E-05	Translation regulatory protein	BrainSpLMD|9669	OMIM|606086
EN-V1-2	KLHL23	0.383974189	1.77E-05	Cytoskeletal associated protein	BrainSpLMD|151230;Eurexp|euxassay_008410|embryo	
EN-V1-2	CCDC92	0.692264098	1.80E-05	Unclassified	BrainSpLMD|80212;Eurexp|euxassay_002486|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, thoracic, trigeminal V, ventral grey horn, vestibulocochlear VIII	
EN-V1-2	TMEM183A	0.355850399	1.81E-05	Unclassified	BrainSpLMD|92703	
EN-V1-2	NUTF2	0.43225014	1.84E-05	Transport/cargo protein	BrainSpLMD|10204;Eurexp|euxassay_015153|basal columns, brain, central nervous system, cerebellum, cerebral cortex, cortex, dermal component, dermis, dorsal root ganglion, drainage component, ear, epidermal component, epithelium, facial VII, floorplate, forebrain, incisor, inner ear, lateral wall, left lung, liver, liver and biliary system, lobe, lower jaw, lung, male, mandible, mantle layer, marginal layer, medullary region, mesenchyme, metanephros, molar, nasal cavity, nervous system, nucleus pulposus, otic capsule, petrous part, physiological umbilical hernia, renal/urinary system, rest of cerebellum, right lung, sublingual gland primordium, submandibular gland primordium, telencephalon, temporal bone, testis, thymus primordium, tooth, trigeminal V, turbinate bones, upper jaw, vagus X, ventricular layer, vibrissa	OMIM|605813
EN-V1-2	NUB1	0.348422949	1.90E-05	Ubiquitin proteasome system protein	BrainSpLMD|51667;Eurexp|euxassay_006658|marginal layer	OMIM|607981
EN-V1-2	BID	0.258968757	1.94E-05	Ligand	BrainSpLMD|637;Eurexp|euxassay_006342|glossopharyngeal IX, larynx, liver, lung, metanephros, submandibular gland primordium, thymus primordium, trigeminal V, vagus X	OMIM|601997
EN-V1-2	MPRIP.AS1	0.288186804	1.97E-05			
EN-V1-2	CCSER2	0.252159741	2.00E-05	Unclassified	BrainSpLMD|54462;Eurexp|euxassay_016859|dorsal root ganglion, facial VII, glossopharyngeal IX, marginal layer, neural retina, olfactory, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	
EN-V1-2	PSMA2	0.350333061	2.03E-05	Ubiquitin proteasome system protein	BrainSpLMD|5683	OMIM|176842
EN-V1-2	MPRIP	0.518785924	2.05E-05	Cytoskeletal associated protein	BrainSpLMD|23164;Eurexp|euxassay_001470|brain, cervical, cervico-thoracic, dorsal root ganglion, spinal cord, thoracic	OMIM|612935
EN-V1-2	CEP85L	0.341625065	2.08E-05	Unclassified	BrainSpLMD|387119	
EN-V1-2	MRPL44	0.504280534	2.09E-05	Ribosomal subunit	BrainSpLMD|65080	OMIM|611849;HPO|65080|Autosomal recessive inheritance, Elevated hepatic transaminases, Hypertrophic cardiomyopathy, Increased serum lactate, Infantile onset, Microvesicular hepatic steatosis, Variable expressivity
EN-V1-2	CTPS1	0.400731336	2.20E-05	Enzyme: Ligase	BrainSpLMD|1503	OMIM|123860;HPO|1503|Autosomal recessive inheritance, Defective T cell proliferation, Immunodeficiency, Immunoglobulin IgG2 deficiency, Lymphopenia, Severe viral infections
EN-V1-2	B4GALNT1	0.292946984	2.23E-05	Enzyme: Synthase	BrainSpLMD|2583;Eurexp|euxassay_002539|brain, diencephalon, dorsal root ganglion, facial VII, foregut-midgut junction, glossopharyngeal IX, hindbrain, hindgut, incisor, mantle layer, marginal layer, midbrain, midgut, molar, neural retina, spinal cord, stomach, stroma, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|601873
EN-V1-2	ETFB	0.356585729	2.24E-05	Enzyme: Oxidoreductase	BrainSpLMD|2109	SFARI||Autism, 3 - Suggestive evidence;OMIM|130410;HPO|2109|Abnormal facial shape, Abnormality of the genital system, Abnormality of the pinna, Autosomal recessive inheritance, Congenital cataract, Defective dehydrogenation of isovaleryl CoA and butyryl CoA, Depressed nasal bridge, Electron transfer flavoprotein-ubiquinone oxidoreductase defect, Ethylmalonic aciduria, Generalized aminoaciduria, Gliosis, Glutaric acidemia, Glutaric aciduria, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, High forehead, Hypoglycemia, Hypoglycemic coma, Jaundice, Macrocephaly, Muscle weakness, Muscular hypotonia, Nausea, Neonatal death, Pachygyria, Polycystic kidney dysplasia, Proximal tubulopathy, Pulmonary hypoplasia, Renal cortical cysts, Respiratory distress, Telecanthus, Vomiting, Wide anterior fontanel
EN-V1-2	ZBTB43	0.314215459	2.33E-05	Transcription regulatory protein	BrainSpLMD|23099	
EN-V1-2	MBOAT2	0.452033937	2.34E-05	Unclassified	BrainSpLMD|129642	OMIM|611949
EN-V1-2	WNK3	0.265454795	2.36E-05	Serine/threonine kinase	BrainSpLMD|65267	SFARI||Autism, 4 - Minimal evidence;OMIM|300358
EN-V1-2	PRDM8	0.387810532	2.41E-05	Unclassified	BrainSpLMD|56978;Eurexp|euxassay_003278|diencephalon, dorsal root ganglion, hindbrain, midbrain, spinal cord, telencephalon, trigeminal V	OMIM|616639;HPO|56978|Autosomal recessive inheritance, Dementia, Dysarthria, Generalized myoclonic seizures, Hallucinations, Hyperreflexia, Lafora bodies, Mutism, Myoclonus, Paranoia, Progressive, Progressive cerebellar ataxia, Psychosis, Spastic ataxia, Spastic tetraplegia, Urinary incontinence, Variable expressivity
EN-V1-2	FKBP1C	0.436967621	2.41E-05			
EN-V1-2	MASP1	0.825022412	2.45E-05	Serine protease	BrainSpLMD|5648	OMIM|600521;HPO|5648|Abnormality of eye movement, Abnormality of the anterior chamber, Atrial septal defect, Autosomal recessive inheritance, Bilateral cryptorchidism, Blepharophimosis, Broad foot, Caudal appendage, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Conductive hearing impairment, Conjunctival telangiectasia, Coronal craniosynostosis, Craniosynostosis, Dental crowding, Diastasis recti, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus inversus, Glaucoma, Growth delay, Hearing impairment, Highly arched eyebrow, Hydronephrosis, Hyperlordosis, Hypertelorism, Intellectual disability, Intellectual disability, mild, Lambdoidal craniosynostosis, Large fleshy ears, Limited pronation/supination of forearm, Microcephaly, Omphalocele, Oral cleft, Patent ductus arteriosus, Postnatal growth retardation, Ptosis, Radioulnar synostosis, Sacral dimple, Scoliosis, Short 5th finger, Short foot, Single interphalangeal crease of fifth finger, Skull asymmetry, Spina bifida occulta, Supernumerary nipple, Telecanthus, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide anterior fontanel
EN-V1-2	CBWD3	0.439120353	2.48E-05		BrainSpLMD|445571	OMIM|611080
EN-V1-2	FAM192A	0.550948389	2.67E-05	Unclassified	BrainSpLMD|80011;Eurexp|euxassay_004902|adenohypophysis, brain, glossopharyngeal IX, incisor, lung, metanephros, molar, olfactory, respiratory, retina, spinal cord, submandibular gland primordium, thymus primordium, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|617766
EN-V1-2	MTPN	0.345880851	2.90E-05	Cell cycle control protein		OMIM|606484
EN-V1-2	DLG1	0.750060529	2.97E-05	Cell junction protein	BrainSpLMD|1739;Eurexp|euxassay_005262|adrenal gland, lung	SFARI||Autism, No category;OMIM|601014
EN-V1-2	WDR47	0.680165422	3.08E-05	Unclassified	BrainSpLMD|22911;Eurexp|euxassay_004509|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|615734
EN-V1-2	B3GALT2	0.372642384	3.09E-05	Enzyme: Galactosyltransferase	BrainSpLMD|8707;Eurexp|euxassay_011551|axial skeleton, diaphragm, footplate, mantle layer, marginal layer, neural retina, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|26624	OMIM|603018
EN-V1-2	PRKY	0.713870275	3.17E-05	Serine/threonine kinase	BrainSpLMD|5616	OMIM|400008
EN-V1-2	HARS	0.561552477	3.21E-05	Enzyme: Ligase	BrainSpLMD|3035;Eurexp|euxassay_005327|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|142810;HPO|3035|Abnormal electroretinogram, Abnormality of cochlea, Absent Achilles reflex, Astigmatism, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Delayed gross motor development, Distal sensory impairment, Hammertoe, Hearing impairment, Hemianopia, High-grade hypermetropia, Horizontal nystagmus, Iris hypopigmentation, Nyctalopia, Optic disc pallor, Pes cavus, Photophobia, Scotoma, Sensorineural hearing impairment, Steppage gait, Truncal ataxia, Variable expressivity, Vestibular hypofunction, Visual impairment, Visual loss
EN-V1-2	RP11.258C19.7	0.50283815	3.60E-05			
EN-V1-2	CDC123	0.471372313	3.77E-05	Cell cycle control protein	BrainSpLMD|8872	OMIM|617708
EN-V1-2	PPP2R3A	0.673675286	3.81E-05	Serine/threonine phosphatase;Regulatory/other subunit	BrainSpLMD|5523;Eurexp|euxassay_012481|skeletal muscle, ventricle, vertebral axis muscle system	OMIM|604944
EN-V1-2	EIF2B3	0.7675177	3.89E-05	Translation regulatory protein	BrainSpLMD|8891	OMIM|606273;HPO|8891|Autosomal recessive inheritance, CNS demyelination, Cerebral hypomyelination, Cessation of head growth, Decreased circulating progesterone, Delusions, Developmental regression, Dysarthria, Emotional lability, Generalized hypotonia, Juvenile onset, Lethargy, Leukoencephalopathy, Macrocephaly, Memory impairment, Optic atrophy, Personality changes, Premature ovarian insufficiency, Primary gonadal insufficiency, Secondary amenorrhea, Seizures, Spasticity, Unsteady gait
EN-V1-2	ST3GAL6	0.812688927	3.94E-05	Enzyme: Sialyltransferase	BrainSpLMD|10402	OMIM|607156
EN-V1-2	ZC3H15	0.291736258	4.08E-05	DNA binding protein	BrainSpLMD|55854	
EN-V1-2	DCUN1D4	0.271584028	4.12E-05	Unclassified	BrainSpLMD|23142;Eurexp|euxassay_007138|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|64907	OMIM|612977
EN-V1-2	RP11.296E7.1	0.256207932	4.25E-05			
EN-V1-2	CRIP2	0.411895884	4.29E-05	Adapter molecule	BrainSpLMD|1397;Eurexp|euxassay_002192|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X, ventricle	OMIM|601183
EN-V1-2	MPC2	0.434803983	4.46E-05	Unclassified	BrainSpLMD|25874	OMIM|614737
EN-V1-2	SPIRE1	0.432459243	4.61E-05	Transport/cargo protein	BrainSpLMD|56907	OMIM|609216
EN-V1-2	IGSF3	0.539523465	5.16E-05	Integral membrane protein	BrainSpLMD|3321	OMIM|603491;HPO|3321|Autosomal dominant inheritance, Autosomal recessive inheritance, Dacryocystocele, Increased lacrimation, Lacrimal duct atresia
EN-V1-2	SNHG8	0.373177995	5.31E-05			
EN-V1-2	UBE2R2	0.295453092	5.45E-05	Ubiquitin proteasome system protein	BrainSpLMD|54926	OMIM|612506
EN-V1-2	YIPF4	0.353708085	5.61E-05	Unclassified	BrainSpLMD|84272	OMIM|617534
EN-V1-2	ZNF141	0.763960341	5.66E-05	Transcription regulatory protein	BrainSpLMD|7700	OMIM|194648;HPO|7700|Autosomal recessive inheritance, Broad phalanges of the 5th finger, Postaxial hand polydactyly
EN-V1-2	ZBTB34	0.64452969	5.67E-05	Transcription regulatory protein	BrainSpLMD|403341;Eurexp|euxassay_013756|olfactory, submandibular gland primordium	OMIM|611692
EN-V1-2	GSTA4	0.261939268	5.67E-05	Enzyme: Glutathione transferase	BrainSpLMD|2941	OMIM|605450
EN-V1-2	NRSN2	0.818426225	5.72E-05	Unclassified	BrainSpLMD|80023	OMIM|610666
EN-V1-2	ZNF512	0.379489192	5.73E-05	Transcription regulatory protein	BrainSpLMD|84450	
EN-V1-2	BMPR1B	0.808922158	5.86E-05	Receptor serine/threonine kinase	BrainSpLMD|658;BrainSpMouseDev|11953	OMIM|603248;HPO|658|2-3 toe syndactyly, Abnormality of epiphysis morphology, Abnormality of the fingernails, Abnormality of the hip bone, Abnormality of the radius, Abnormality of the thumb, Abnormality of the ulna, Abnormality of tibia morphology, Aplasia of the middle phalanges of the toes, Aplasia of the proximal phalanges of the hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the 1st metacarpal, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Aplasia/Hypoplasia of the thumb, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bowing of the long bones, Brachydactyly, Bracket epiphysis of the middle phalanx of the 2nd finger, Bracket epiphysis of the middle phalanx of the 5th finger, Broad foot, Broad hallux, Carpal synostosis, Clinodactyly of the 5th finger, Complete duplication of distal phalanx of the thumb, Cone-shaped epiphysis, Delayed speech and language development, Disproportionate short-limb short stature, Fibular aplasia, Fibular hypoplasia, Hallux valgus, Hypergonadotropic hypogonadism, Hypoplasia of the ulna, Hypoplasia of the uterus, Joint stiffness, Limitation of joint mobility, Medially deviated second toe, Micromelia, Narrow nasal bridge, Poor motor coordination, Postaxial hand polydactyly, Primary amenorrhea, Pseudoepiphyses of the 2nd finger, Radial deviation of finger, Radial deviation of the 2nd finger, Sarcoma, Short 2nd finger, Short distal phalanx of the 2nd finger, Short distal phalanx of the thumb, Short femoral neck, Short finger, Short foot, Short hallux, Short metatarsal, Short middle phalanx of finger, Short middle phalanx of the 5th finger, Short phalanx of finger, Short proximal phalanx of finger, Short proximal phalanx of thumb, Short stature, Short thumb, Short tibia, Short toe, Skeletal dysplasia, Stippling of the epiphysis of the distal phalanx of the thumb, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Triangular shaped middle phalanx of the 2nd finger, Triangular shaped middle phalanx of the 5th finger, Type A2 brachydactyly, Type C brachydactyly, Ulnar deviation of finger, Ulnar deviation of the 2nd finger, Widened proximal tibial metaphyses
EN-V1-2	CYB5B	0.363169997	6.02E-05	Transport/cargo protein	BrainSpLMD|80777;Eurexp|euxassay_010042|adrenal gland, axial muscle, cortex, lung, mandible, maxilla, midgut, neural retina, orbito-sphenoid, pancreas, wall	OMIM|611964
EN-V1-2	TIMM17A	0.44944332	6.30E-05	Enzyme: Translocase	BrainSpLMD|10440	OMIM|605057
EN-V1-2	KLHL8	0.328409436	6.51E-05	Unclassified	BrainSpLMD|57563;Eurexp|euxassay_008140|mantle layer, marginal layer	OMIM|611967
EN-V1-2	FRG1B	0.283968537	6.80E-05			
EN-V1-2	ATP11C	0.36428077	7.74E-05	ATPase	BrainSpLMD|286410;Eurexp|euxassay_010318|choroid invagination, choroid plexus, roof plate	OMIM|300516
EN-V1-2	PLEKHG2	0.256478455	7.81E-05	Guanine nucleotide exchange factor	BrainSpLMD|64857	OMIM|611893;HPO|64857|Autosomal recessive inheritance, Diffuse white matter abnormalities, Infantile onset, Intellectual disability, severe, Leukodystrophy, Postnatal microcephaly
EN-V1-2	MRPL15	0.843541554	8.67E-05	Ribosomal subunit	BrainSpLMD|29088;Eurexp|euxassay_003344|axial muscle, dorsal root ganglion, glossopharyngeal IX, lobe, trigeminal V, vestibulocochlear VIII	OMIM|611828
EN-V1-2	FAM13A.AS1	0.521605796	8.81E-05			
EN-V1-2	ZPR1	0.533157364	8.89E-05	Adapter molecule	BrainSpLMD|8882;Eurexp|euxassay_009271|embryo	OMIM|603901
EN-V1-2	FAM76A	0.480522294	9.02E-05	Unclassified	BrainSpLMD|199870;Eurexp|euxassay_006532|embryo	
EN-V1-2	NUMBL	0.650102081	9.27E-05	Unclassified	BrainSpLMD|9253;BrainSpMouseDev|17990	OMIM|604018
EN-V1-2	COX7A2L	0.356225645	9.47E-05	Enzyme: Oxidase	BrainSpLMD|9167	OMIM|605771
EN-V1-2	ZMIZ2	0.333766545	9.51E-05	Transcription regulatory protein	BrainSpLMD|83637;Eurexp|euxassay_007158|cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, left lung, midbrain, neural retina, oesophagus, olfactory, respiratory, respiratory tract, right lung, spinal cord, submandibular gland primordium, telencephalon, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|611196
EN-V1-2	MKRN1	0.361228118	9.74E-05	Ubiquitin proteasome system protein	BrainSpLMD|23608	OMIM|607754
EN-V1-2	VPS8	0.257792441	9.78E-05	Unclassified	BrainSpLMD|23355;Eurexp|euxassay_012588|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vagus X	
EN-V1-2	TMEM43	0.684383876	0.00010118	Integral membrane protein	BrainSpLMD|79188	OMIM|612048;HPO|79188|Adult onset, Atrial fibrillation, Autosomal dominant inheritance, Bradycardia, Chest pain, Congestive heart failure, Muscular dystrophy, Neck muscle weakness, Palpitations, Prolonged QRS complex, Proximal amyotrophy, Proximal muscle weakness, Right ventricular cardiomyopathy, Slow progression, Sudden cardiac death, Ventricular extrasystoles, Ventricular tachycardia
EN-V1-2	LSS	0.500458401	0.000106185	Enzyme: Mutase	BrainSpLMD|4047;Eurexp|euxassay_017872|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lobe, mandible, mantle layer, molar, neural retina, thoracic, thymus primordium, trigeminal V, ventricular layer, vibrissa	OMIM|600909;HPO|4047|Autosomal recessive inheritance, Congenital cataract, Visual loss
EN-V1-2	6-Sep	0.53469954	0.000108877			
EN-V1-2	TUB	0.292427622	0.000110757	Transcription regulatory protein	BrainSpLMD|7275	OMIM|601197;HPO|7275|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Astigmatism, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Myopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal dystrophy, Sensorineural hearing impairment, Visual impairment, Wide nasal bridge
EN-V1-2	UBTF	0.755773804	0.00011083	Transcription factor	BrainSpLMD|7343;BrainSpMouseDev|21190	OMIM|600673
EN-V1-2	CELF1	0.287647985	0.000113443	RNA binding protein	BrainSpLMD|10658	OMIM|601074
EN-V1-2	RNF187	0.599493543	0.000113479	Unclassified		OMIM|613754
EN-V1-2	SLC25A12	0.70479836	0.000114907	Transport/cargo protein	BrainSpLMD|8604	SFARI||Autism, 4 - Minimal evidence;OMIM|603667;HPO|8604|Absent speech, Autosomal recessive inheritance, Cerebral hypomyelination, Epileptic encephalopathy, Global developmental delay, Hyperreflexia, Infantile onset, Poor eye contact, Seizures, Severe muscular hypotonia, Spasticity
EN-V1-2	ASNA1	0.598606273	0.000116786	ATPase	BrainSpLMD|439;Eurexp|euxassay_005141|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lung, metanephros, molar, olfactory, retina, spinal cord, submandibular gland primordium, thoracic, thymus primordium, tongue, trachea, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|601913
EN-V1-2	LRCH1	0.438730754	0.000120289	Unclassified	BrainSpLMD|23143	OMIM|610368
EN-V1-2	RP11.1280N14.3	0.495396757	0.000124565			
EN-V1-2	PDZD4	0.617583403	0.000124933	Unclassified	BrainSpLMD|57595;Eurexp|euxassay_015182|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, primitive seminiferous tubules, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300634
EN-V1-2	ACOX1	0.338881513	0.00012992	Enzyme: Oxidase	BrainSpLMD|51;Eurexp|euxassay_018548|dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, trigeminal V, vagus X, ventricular layer	OMIM|609751;HPO|51|Abnormal electroretinogram, Abnormality of metabolism/homeostasis, Abnormality of nervous system morphology, Abnormality of visual evoked potentials, Autosomal recessive inheritance, Babinski sign, Bilateral sensorineural hearing impairment, Brachycephaly, CNS demyelination, Death in infancy, Decreased light- and dark-adapted electroretinogram amplitude, Depressed nasal bridge, Developmental regression, Diffuse hepatic steatosis, Dysphagia, Dystonia, EEG abnormality, Elevated hepatic transaminases, Epicanthus, Failure to thrive, Frontal bossing, Gait disturbance, Global developmental delay, Hepatomegaly, Hyperreflexia, Hypertelorism, Hypertonia, Hypodontia, Infantile onset, Intellectual disability, progressive, Intellectual disability, severe, Inverted nipples, Irritability, Leukodystrophy, Low-set ears, Muscular hypotonia, Myopia, Neonatal hypotonia, Neurological speech impairment, No social interaction, Nystagmus, Optic atrophy, Pigmentary retinopathy, Respiratory insufficiency, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Strabismus, Tapetoretinal degeneration, Wide nasal bridge
EN-V1-2	C3orf14	0.302226242	0.000131168	Unclassified	BrainSpLMD|57415	
EN-V1-2	SH3YL1	0.552290598	0.000132645	Unclassified	BrainSpLMD|26751	OMIM|617314
EN-V1-2	RP11.83A24.2	0.447816126	0.000136661			
EN-V1-2	COX6B1	0.337210741	0.00014038	Enzyme: Oxidoreductase	BrainSpLMD|1340	OMIM|124089;HPO|1340|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
EN-V1-2	NT5C3A	0.301192632	0.000143606	Enzyme: Hydrolase	BrainSpLMD|51251;Eurexp|euxassay_006605|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, left, right, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606224;HPO|51251|Autosomal recessive inheritance, Hemoglobinuria, Hemolytic anemia
EN-V1-2	TKT	0.374785569	0.000143764	Enzyme: Transketolase	BrainSpLMD|7086	OMIM|606781;HPO|7086|Autosomal recessive inheritance, Intellectual disability, Patent ductus arteriosus, Patent foramen ovale, Proportionate short stature, Self-injurious behavior, Stereotypy, Ventricular septal defect
EN-V1-2	BLOC1S6	0.256337402	0.000144666	Unclassified	BrainSpLMD|26258;Eurexp|euxassay_001468|brain, spinal cord, thoracic;BrainSpMouseDev|18223	OMIM|604310;HPO|26258|Autosomal recessive inheritance, Congenital nystagmus, Hypopigmentation of the fundus, Hypopigmentation of the skin, Leukopenia, Nystagmus, Ocular albinism, Thrombocytopenia
EN-V1-2	KLF3.AS1	0.517657397	0.000145817			
EN-V1-2	RP11.260M2.1	0.399792193	0.000148771			
EN-V1-2	ACTR3B	0.54909376	0.000150094	Cytoskeletal associated protein	BrainSpLMD|57180;Eurexp|euxassay_004135|olfactory lobe, ventricular layer	
EN-V1-2	RPL7P32	0.435922051	0.000151075			
EN-V1-2	PGAM5	0.571528114	0.000152281	Enzyme: Mutase	BrainSpLMD|192111	OMIM|614939
EN-V1-2	UGGT2	0.276388996	0.000152951	Enzyme: Glycosyltransferase	BrainSpLMD|55757	OMIM|605898
EN-V1-2	NDUFB6	0.308381999	0.000172533	Regulatory/other subunit	BrainSpLMD|4712	OMIM|603322
EN-V1-2	CAP2	0.435365193	0.000172633	Unclassified	BrainSpLMD|10486;Eurexp|euxassay_002560|diaphragm, head mesenchyme, marginal layer, tongue, vertebral axis muscle system	
EN-V1-2	MMD	0.738479309	0.000172886	Integral membrane protein	BrainSpLMD|23531;Eurexp|euxassay_002968|Meckel's cartilage, axial skeleton, bladder, dorsal root ganglion, facial VII, foregut-midgut junction, glossopharyngeal IX, head mesenchyme, hindgut, incisor, limb, midgut, molar, nasal capsule, neural retina, oesophagus, olfactory, pectoral girdle and thoracic body wall, rectum, retina, rib, stomach, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|604467
EN-V1-2	TMX4	0.632090795	0.000174541	Unclassified	BrainSpLMD|56255	OMIM|616766
EN-V1-2	GABPB1.AS1	0.285138329	0.000174585			
EN-V1-2	COX4I1	0.330102314	0.000177131	Enzyme: Oxidoreductase	BrainSpLMD|1327	OMIM|123864
EN-V1-2	WDR82	0.252977505	0.00018108	Integral membrane protein	BrainSpLMD|80335	OMIM|611059
EN-V1-2	CSPP1	0.383017309	0.000191014	Unclassified	BrainSpLMD|79848;Eurexp|euxassay_011574|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, metanephros, olfactory, right lung, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611654;HPO|79848|Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Cataract, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Cleft palate, Congenital hepatic fibrosis, Congenital onset, Cryptorchidism, Depressed nasal ridge, Dyspnea, Elongated superior cerebellar peduncle, Encephalocele, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Hypertelorism, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Postaxial foot polydactyly, Postaxial hand polydactyly, Posterior fossa cyst, Ptosis, Sclerocornea, Sloping forehead, Strabismus, Talipes, Variable expressivity
EN-V1-2	ACSL3	0.307741167	0.000191345	Enzyme: Ligase	BrainSpLMD|2181;Eurexp|euxassay_006620|embryo	OMIM|602371;COSMIC||prostate
EN-V1-2	RNF157	0.8630185	0.00019287	Ubiquitin proteasome system protein		
EN-V1-2	CTIF	0.441949646	0.000196479	RNA binding protein	BrainSpLMD|9811;Eurexp|euxassay_005716|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613178
EN-V1-2	CIC	0.793917408	0.000204635	Transcription factor	BrainSpLMD|23152;BrainSpMouseDev|47563	SFARI||Autism, 2 - Strong candidate;OMIM|612082;COSMIC||oligodendroglioma, soft tissue sarcoma
EN-V1-2	C9orf78	0.253341379	0.00021732	Unclassified	BrainSpLMD|51759	
EN-V1-2	RAB11A	0.305679242	0.000220248	GTPase	BrainSpLMD|8766	OMIM|605570
EN-V1-2	LRRTM2	0.573487405	0.00022821	Integral membrane protein	BrainSpLMD|26045	OMIM|610868
EN-V1-2	ATXN10	0.317744856	0.000230713	Unclassified	BrainSpLMD|25814	OMIM|611150;HPO|25814|Abnormal pyramidal signs, Abnormality of extrapyramidal motor function, Autosomal dominant inheritance, Cerebellar atrophy, Decreased nerve conduction velocity, Dementia, Depressivity, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysphagia, Gait ataxia, Genetic anticipation, Hyperreflexia, Incomplete penetrance, Incoordination, Limb ataxia, Morphological abnormality of the pyramidal tract, Nystagmus, Progressive cerebellar ataxia, Scanning speech, Seizures, Urinary incontinence, Urinary urgency
EN-V1-2	LEO1	0.361289781	0.000236476	Unclassified	BrainSpLMD|123169	OMIM|610507
EN-V1-2	POLR2K	0.447426844	0.000248996	Transcription regulatory protein	BrainSpLMD|5440;Eurexp|euxassay_019504|incisor, liver, lung, molar, olfactory, submandibular gland primordium, thymus primordium, vibrissa, vomeronasal organ	OMIM|606033
EN-V1-2	RNF145	0.462125609	0.000251344	Ubiquitin proteasome system protein	BrainSpLMD|153830	
EN-V1-2	MEAF6	0.283733764	0.00027388	Unclassified	BrainSpLMD|64769	OMIM|611001
EN-V1-2	CCT4	0.34043841	0.000278679	Chaperone	BrainSpLMD|10575	SFARI||Autism, 3 - Suggestive evidence;OMIM|605142
EN-V1-2	MRPS6	0.622350793	0.000282076	Ribosomal subunit	BrainSpLMD|64968;Eurexp|euxassay_000228|choroid plexus, metencephalon, telencephalon	OMIM|611973
EN-V1-2	NDRG4	0.402841517	0.00030083	Enzyme: Hydrolase;Cell cycle control protein	BrainSpLMD|65009;Eurexp|euxassay_015917|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mantle layer, neural retina, trigeminal V, ventral grey horn, vestibulocochlear VIII	OMIM|614463
EN-V1-2	ZNF641	0.587093056	0.000301506	Transcription factor	BrainSpLMD|121274	OMIM|613906
EN-V1-2	RRAGD	0.842048239	0.000302253	G protein	BrainSpLMD|58528	OMIM|608268
EN-V1-2	RPRD1A	0.392308881	0.00030569	Unclassified	BrainSpLMD|55197;Eurexp|euxassay_001211|calyces, dorsal root ganglion, submandibular gland primordium	OMIM|610347
EN-V1-2	MYO9A	0.273381657	0.000306138	Motor protein	BrainSpLMD|4649	OMIM|604875
EN-V1-2	CMSS1	0.796809144	0.000306394	Unclassified	BrainSpLMD|84319	
EN-V1-2	EBNA1BP2	0.515611437	0.00032937	Unclassified	BrainSpLMD|10969	OMIM|614443
EN-V1-2	EPB41L3	0.341864869	0.000345068	Structural protein	BrainSpLMD|23136	OMIM|605331
EN-V1-2	ZNF652	0.510947938	0.000348784	DNA binding protein	BrainSpLMD|22834	OMIM|613907
EN-V1-2	RP11.33B1.1	0.393338233	0.000351888			
EN-V1-2	POLB	0.47150502	0.000366688	DNA polymerase	BrainSpLMD|5423;Eurexp|euxassay_012784|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|174760
EN-V1-2	HINT3	0.634941928	0.000385527	Unclassified	BrainSpLMD|135114	OMIM|609998
EN-V1-2	C11orf57	0.344428187	0.000389967			
EN-V1-2	RP11.127B20.2	0.44745453	0.000399042			
EN-V1-2	JAZF1	0.666913158	0.000404206	DNA binding protein	BrainSpLMD|221895;Eurexp|euxassay_014387|mantle layer, ventral grey horn;BrainSpMouseDev|87350	OMIM|606246;COSMIC||endometrial stromal tumour
EN-V1-2	REEP5	0.721831165	0.000406999	Integral membrane protein	BrainSpLMD|7905;Eurexp|euxassay_004460|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|125265
EN-V1-2	ZNF124	0.392103916	0.000421546	DNA binding protein	BrainSpLMD|7678	OMIM|194631
EN-V1-2	KCTD10	0.54834408	0.000422602	Ion channel	BrainSpLMD|83892;Eurexp|euxassay_010579|clavicle, mandible, maxilla, midgut, rib	OMIM|613421
EN-V1-2	TMEM167A	0.459594231	0.000431451	Integral membrane protein	BrainSpLMD|153339	
EN-V1-2	PFDN1	0.375850063	0.000436231	Chaperone	BrainSpLMD|5201	OMIM|604897
EN-V1-2	KPNA4	0.576874338	0.000442829	Transport/cargo protein	BrainSpLMD|3840	OMIM|602970
EN-V1-2	ERP44	0.336992352	0.000455511	Unclassified	BrainSpLMD|23071;Eurexp|euxassay_001975|Meckel's cartilage, incisor, molar, orbito-sphenoid	OMIM|609170
EN-V1-2	TM2D2	0.756646658	0.000456031	Integral membrane protein	BrainSpLMD|83877	OMIM|610081
EN-V1-2	FEZ2	0.415610912	0.000466213	Unclassified	BrainSpLMD|9637	OMIM|604826
EN-V1-2	ARHGEF7	0.365157604	0.000468799	Guanine nucleotide exchange factor	BrainSpLMD|8874	OMIM|605477
EN-V1-2	FBXW4	0.426949695	0.000473157	Ubiquitin proteasome system protein	BrainSpLMD|6468;Eurexp|euxassay_003165|roof plate, ventricular layer;BrainSpMouseDev|29829	OMIM|608071
EN-V1-2	NHP2L1	0.289089736	0.000502174			
EN-V1-2	PCGF3	0.514804452	0.000516219	Ubiquitin proteasome system protein	BrainSpLMD|10336	OMIM|617543
EN-V1-2	CCNG2	0.39066216	0.00051854	Cell cycle control protein	BrainSpLMD|901;Eurexp|euxassay_007291|embryo	OMIM|603203
EN-V1-2	TSPAN18	0.868033648	0.000521252	Integral membrane protein	BrainSpLMD|90139;Eurexp|euxassay_002400|ventricular layer	
EN-V1-2	BTBD10	0.400708348	0.000525841	Transcription regulatory protein	BrainSpLMD|84280	OMIM|615933
EN-V1-2	YEATS2	0.34637187	0.000535196	Unclassified	BrainSpLMD|55689	SFARI||Autism, No category;OMIM|613373
EN-V1-2	RBM4	0.348329009	0.000539479	RNA binding protein	BrainSpLMD|5936	OMIM|602571
EN-V1-2	BEX5	0.332239406	0.000548122	Unclassified		OMIM|300693
EN-V1-2	PDCD11	0.513619816	0.000552628	Transcription regulatory protein	BrainSpLMD|22984;Eurexp|euxassay_005987|thymus primordium	OMIM|612333
EN-V1-2	LZTS1	0.333710532	0.000576224	Unclassified	BrainSpLMD|11178;Eurexp|euxassay_011133|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|84266	OMIM|606551;HPO|11178|Autosomal dominant inheritance, Squamous cell carcinoma
EN-V1-2	APBB1	0.787108608	0.000582685	Adapter molecule	BrainSpLMD|322;Eurexp|euxassay_018324|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|602709
EN-V1-2	AGO4	0.299077794	0.000599937	Translation regulatory protein	BrainSpLMD|192670	OMIM|607356
EN-V1-2	IFNGR2	0.331051953	0.00060672	Cell surface receptor	BrainSpLMD|3460;Eurexp|euxassay_009771|basal columns, dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vagus X	OMIM|147569;HPO|3460|Autosomal recessive inheritance, Immunodeficiency, Recurrent mycobacterial infections
EN-V1-2	MORF4	0.290199556	0.000608479	Transcription factor		OMIM|116960
EN-V1-2	GOLT1B	0.600950883	0.000614052	Unclassified	BrainSpLMD|51026;Eurexp|euxassay_004588|orbito-sphenoid	OMIM|615078
EN-V1-2	POLR3E	0.434883629	0.000614233	RNA polymerase	BrainSpLMD|55718;Eurexp|euxassay_003027|calyces, chondrocranium, foregut-midgut junction, hindgut, midgut, stomach, submandibular gland primordium	
EN-V1-2	NRXN2	0.666608555	0.000617315	Cell surface receptor	BrainSpLMD|9379	SFARI||Autism, 4 - Minimal evidence;OMIM|600566
EN-V1-2	PPFIBP1	0.666621997	0.000620406	Anchor protein	BrainSpLMD|8496;BrainSpMouseDev|43376	OMIM|603141;COSMIC||Spitzoid tumour, inflammatory myofibroblastic tumour
EN-V1-2	MPC1	0.265612501	0.00063854	Unclassified	BrainSpLMD|51660;Eurexp|euxassay_014791|adrenal gland, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V	OMIM|614738;HPO|51660|Autosomal recessive inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hypoglycemia, Increased serum lactate, Increased serum pyruvate, Lactic acidosis, Organic aciduria, Variable expressivity
EN-V1-2	C12orf76	0.29169461	0.000639485	Unclassified	BrainSpLMD|400073	
EN-V1-2	PSMD14	0.310743024	0.00065603	Ubiquitin proteasome system protein	BrainSpLMD|10213	OMIM|607173
EN-V1-2	AREL1	0.878123801	0.000662868	Enzyme: Ligase	BrainSpLMD|9870	OMIM|615380
EN-V1-2	EIF6	0.608038012	0.000687664	Translation regulatory protein	BrainSpLMD|3692	OMIM|602912
EN-V1-2	NAA15	0.394603119	0.000697039	Enzyme: Transferase	BrainSpLMD|80155	SFARI||Autism, 1 - High confidence;OMIM|608000
EN-V1-2	SLC29A4	0.513319381	0.000698333	Membrane transport protein	BrainSpLMD|222962;Eurexp|euxassay_015715|choroid plexus;BrainSpMouseDev|89066	SFARI||Autism, No category;OMIM|609149
EN-V1-2	OGFOD1	0.251624624	0.000700688	Enzyme: Oxidoreductase	BrainSpLMD|55239	OMIM|615857
EN-V1-2	ATMIN	0.45665888	0.000709049	DNA binding protein	BrainSpLMD|23300	OMIM|614693
EN-V1-2	RPL5P4	0.618764432	0.000712167			
EN-V1-2	KIAA2022	0.842777308	0.000716338			SFARI||Autism, 3 - Suggestive evidence
EN-V1-2	UBE2K	0.342473315	0.000721211	Ubiquitin proteasome system protein	BrainSpLMD|3093	OMIM|602846
EN-V1-2	BLOC1S2	0.361710696	0.000726722	Unclassified	BrainSpLMD|282991	OMIM|609768
EN-V1-2	STARD7	0.363701757	0.000728841	Unclassified	BrainSpLMD|56910	OMIM|616712
EN-V1-2	RP11.345J4.5	0.42303347	0.000748368			
EN-V1-2	UBE2Q2P1	0.301072917	0.000760332		BrainSpLMD|388165	
EN-V1-2	APMAP	0.310582286	0.000762266	Unclassified	BrainSpLMD|57136;Eurexp|euxassay_005406|olfactory	OMIM|615884
EN-V1-2	LINC00665	0.400649569	0.000767731			
EN-V1-2	HSD17B4	0.396542794	0.000773341	Enzyme: Dehydrogenase	BrainSpLMD|3295;Eurexp|euxassay_011373|lip, phalanx, ventricular layer, vibrissa	OMIM|601860;HPO|3295|Abnormal facial shape, Aplasia/Hypoplasia of the cerebellum, Autosomal recessive inheritance, Bile duct proliferation, Calcific stippling, Cerebral dysmyelination, Cholestasis, Corpus callosum atrophy, Cortical dysplasia, Decreased muscle mass, Delayed cranial suture closure, Delayed skeletal maturation, Depressed nasal bridge, Elevated hepatic transaminases, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Fetal ascites, Frontal bossing, Gait ataxia, Generalized cerebral atrophy/hypoplasia, Gliosis, Global developmental delay, Gonadal dysgenesis, Hammertoe, Hepatic steatosis, Hepatomegaly, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Increased circulating gonadotropin level, Infantile onset, Large fontanelles, Limited extraocular movements, Long philtrum, Low-set ears, Macrocephaly, Micrognathia, Neonatal hypotonia, Nystagmus, Osteopenia, Osteoporosis, Pectus excavatum, Pes cavus, Phenotypic variability, Polyhydramnios, Polymicrogyria, Primary adrenal insufficiency, Primary amenorrhea, Renal cyst, Retrognathia, Scaphocephaly, Scoliosis, Seizures, Sensorineural hearing impairment, Short stature, Split hand, Strabismus, Talipes equinovarus, Thoracic hypoplasia, Undetectable electroretinogram, Upslanted palpebral fissure, Ventriculomegaly, Visual impairment, Visual loss
EN-V1-2	ID2	0.417548697	0.000780625	Transcription regulatory protein	BrainSpLMD|3398;BrainSpMouseDev|15675	OMIM|600386
EN-V1-2	TSPAN7	0.304264822	0.000795386	Cell surface receptor	BrainSpLMD|7102;Eurexp|euxassay_015336|bladder, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, pancreas, thoracic, trigeminal V, vagus X, ventricular layer, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|300096;HPO|7102|Intellectual disability, Intellectual disability, mild, X-linked recessive inheritance
EN-V1-2	FGD5.AS1	0.267050277	0.000824415			
EN-V1-2	ARL14EP	0.393681791	0.000829449	Unclassified	Eurexp|euxassay_012294|olfactory, ventricular layer	OMIM|612295
EN-V1-2	PSMC1	0.346028427	0.000850941	Ubiquitin proteasome system protein		OMIM|602706
EN-V1-2	EPT1	0.976618957	0.000874654			
EN-V1-2	EIF1AXP1	0.505896646	0.000891058			
EN-V1-2	NFYA	0.524038975	0.000892587	Transcription factor	BrainSpLMD|4800;BrainSpMouseDev|17811	OMIM|189903
EN-V1-2	CBWD5	0.300661531	0.000893181	Unclassified		
EN-V1-2	WDR70	0.46632068	0.000904915	Unclassified	BrainSpLMD|55100	OMIM|617233
EN-V1-2	ZNF84	0.288312825	0.00096022	DNA binding protein	BrainSpLMD|7637	
EN-V1-2	FAM49B	0.383999179	0.000968771	Unclassified	BrainSpLMD|51571	
EN-V1-2	NT5C2	0.573070978	0.000973127	Enzyme: Hydrolase	BrainSpLMD|22978;Eurexp|euxassay_004626|epidermis, vibrissa	OMIM|600417;COSMIC||relapse ALL, Spastic paraplegia-45;HPO|22978|Autosomal recessive inheritance, Babinski sign, Dysplastic corpus callosum, Flexion contracture, Hyperreflexia, Hypoplasia of the corpus callosum, Intellectual disability, Motor delay, Myopia, Nystagmus, Optic atrophy, Spastic gait, Spastic paraplegia
EN-V1-2	RP11.283I3.6	0.657456887	0.000975638			
EN-V1-2	SMARCD3	0.327983771	0.00099116	Transcription regulatory protein	BrainSpLMD|6604	OMIM|601737
EN-V1-2	PANK3	0.623969803	0.001025516	Enzyme: Phosphotransferase	BrainSpLMD|79646	OMIM|606161
EN-V1-2	COPE	0.353954774	0.001034616	Transport/cargo protein	BrainSpLMD|11316	OMIM|606942
EN-V1-2	FAM200B	0.348777193	0.001057329	-		
EN-V1-2	OSBPL6	0.964885035	0.001059465	Transport/cargo protein	BrainSpLMD|114880;Eurexp|euxassay_000065|adrenal gland, cerebral cortex, dorsal root ganglion, epithelium, excretory component, facial VII, glossopharyngeal IX, hypothalamus, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lateral wall, nasal cavity, neural retina, oesophagus, olfactory lobe, pituitary, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|606734
EN-V1-2	ADAM23	0.759915382	0.001096814	Metallo protease	BrainSpLMD|8745;Eurexp|euxassay_007602|dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, maxillary division, neural retina, skeletal muscle, sublingual gland primordium, submandibular gland primordium, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|603710
EN-V1-2	SLC38A9	0.493768916	0.001099074	Unclassified	BrainSpLMD|153129	OMIM|616203
EN-V1-2	LZIC	0.397773805	0.001107352	Unclassified	BrainSpLMD|84328	OMIM|610458
EN-V1-2	ATXN2	0.446092774	0.001112419	RNA binding protein	BrainSpLMD|6311;Eurexp|euxassay_013424|dorsal root ganglion, facial VII, glossopharyngeal IX, lens, neural retina, submandibular gland primordium, trigeminal V, ventral grey horn	OMIM|601517;HPO|6311|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Bradykinesia, Dementia, Depressivity, Dilated fourth ventricle, Distal amyotrophy, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Dysphagia, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Gaze-evoked nystagmus, Generalized hypotonia, Generalized muscle weakness, Genetic anticipation, Hyporeflexia, Impaired horizontal smooth pursuit, Impaired vibratory sensation, Limb ataxia, Muscle cramps, Myoclonus, Neurodegeneration, Oculomotor apraxia, Olivopontocerebellar atrophy, Ophthalmoplegia, Pain, Paralysis, Postural instability, Postural tremor, Progressive cerebellar ataxia, Respiratory failure, Rigidity, Rod-cone dystrophy, Skeletal muscle atrophy, Slow saccadic eye movements, Spasticity, Spinocerebellar tract degeneration, Urinary bladder sphincter dysfunction, Xerostomia
EN-V1-2	TMSB4XP4	0.365437689	0.001147436	-		
EN-V1-2	HSF2	0.380845053	0.001180103	Heat shock protein	BrainSpLMD|3298	OMIM|140581
EN-V1-2	PAPD5	0.411755748	0.001220112	Unclassified	BrainSpLMD|64282	OMIM|605540
EN-V1-2	UBXN1	0.268882437	0.001222993	Ubiquitin proteasome system protein	BrainSpLMD|51035	OMIM|616378
EN-V1-2	SLC20A1	0.322896791	0.001230416	Membrane transport protein	BrainSpLMD|6574;Eurexp|euxassay_009182|brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, liver, marginal layer, metanephros, midgut, primitive seminiferous tubules, spinal cord, submandibular gland primordium, thoracic, trigeminal V, vagus X	OMIM|137570
EN-V1-2	APBA2	0.716746209	0.001230562	Adapter molecule	BrainSpLMD|321;Eurexp|euxassay_012116|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, naris, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, radius, rib, scapula, tibia, turbinate bones;BrainSpMouseDev|11571	SFARI||Autism, 4 - Minimal evidence;OMIM|602712
EN-V1-2	CDC42EP3	0.434971754	0.001255567	GTPase	BrainSpLMD|10602	OMIM|606133
EN-V1-2	CLIP1	0.39915367	0.001333273	Structural protein	BrainSpLMD|6249	OMIM|179838;COSMIC||Spitzoid tumour
EN-V1-2	PCDH11X	0.378938308	0.001356023	Cell junction protein	BrainSpLMD|27328;Eurexp|euxassay_015176|bladder, extrinsic ocular muscle, mantle layer, metatarsus, olfactory, phalanx, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|89410	SFARI||Autism, 4 - Minimal evidence;OMIM|300246
EN-V1-2	ZMPSTE24	0.343229686	0.001370769	Metallo protease	BrainSpLMD|10269	OMIM|606480;HPO|10269|Abnormal cellular phenotype, Abnormal trabecular bone morphology, Abnormality of the dentition, Abnormality of the fingertips, Abnormality of the neck, Abnormality of the pinna, Absence of pubertal development, Absent eyelashes, Acroosteolysis of distal phalanges (feet), Adrenal hypoplasia, Alopecia, Aminoaciduria, Angina pectoris, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Aplastic clavicles, Arteriosclerosis of small cerebral arteries, Arthrogryposis multiplex congenita, Atrial septal defect, Autosomal recessive inheritance, Bilateral coxa valga, Bird-like facies, Blepharophimosis, Brittle hair, Broad-based gait, Calcinosis, Choanal atresia, Congenital pseudoarthrosis of the clavicle, Convex nasal ridge, Craniofacial disproportion, Cyanosis, Decreased adipose tissue around neck, Decreased calvarial ossification, Decreased fetal movement, Decreased serum estradiol, Decreased skull ossification, Decreased testosterone in males, Delayed cranial suture closure, Delayed eruption of teeth, Dental crowding, Dermal atrophy, Dermal translucency, Downslanted palpebral fissures, Entropion, Epidermal hyperkeratosis, Failure to thrive, Flexion contracture, Generalized hyperkeratosis, Generalized lipodystrophy, Glucose intolerance, Hepatic steatosis, Heterogeneous, High palate, High pitched voice, Hydropic placenta, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypermetropia, Hyperphosphatemia, Hyperpigmentation of the skin, Hypertelorism, Hypertension, Hypodontia, Hypogonadotrophic hypogonadism, Hypohidrosis, Hypoplasia of teeth, Hypoplastic facial bones, Hypoplastic nipples, Hypospadias, Hypotrichosis, Increased anterioposterior diameter of thorax, Infertility, Insulin resistance, Insulin-resistant diabetes mellitus, Intermittent claudication, Intrauterine growth retardation, Joint stiffness, Keratoconjunctivitis sicca, Kyphoscoliosis, Kyphosis, Lack of skin elasticity, Large fontanelles, Lipoatrophy, Loss of facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Loss of truncal subcutaneous adipose tissue, Low-set ears, Macrotia, Metaphyseal widening, Micrognathia, Mottled pigmentation, Multiple joint contractures, Nail dysplasia, Nail dystrophy, Narrow mouth, Narrow nasal ridge, Narrow nasal tip, Nasal speech, Natal tooth, Osteoarthritis, Osteolytic defects of the distal phalanges of the hand, Osteopenia, Osteoporosis, Overtubulated long bones, Ovoid vertebral bodies, Patent ductus arteriosus, Polyhydramnios, Premature birth, Premature coronary artery disease, Premature delivery because of cervical insufficiency or membrane fragility, Premature graying of hair, Premature loss of teeth, Premature rupture of membranes, Progeroid facial appearance, Progressive clavicular acroosteolysis, Prolonged prothrombin time, Prominent forehead, Prominent scalp veins, Prominent superficial blood vessels, Proptosis, Pulmonary hypoplasia, Reticulated skin pigmentation, Rocker bottom foot, Scaling skin, Sensorineural hearing impairment, Short clavicles, Short distal phalanx of finger, Short nail, Short nose, Short palpebral fissure, Short phalanx of finger, Short stature, Short umbilical cord, Skin erosion, Small placenta, Sparse and thin eyebrow, Sparse eyebrow, Sparse eyelashes, Sparse hair, Sparse or absent eyelashes, Stiff skin, Stillbirth, Structural foot deformity, Submucous cleft hard palate, Tapering pointed ends of distal finger phalanges, Telecanthus, Temporomandibular joint ankylosis, Thin bony cortex, Thin clavicles, Thin nail, Thin ribs, Thin skin, Thin vermilion border, Thrombocytosis, Ureteral duplication, Widely patent fontanelles and sutures, Wormian bones
EN-V1-2	TGS1	0.347475564	0.001371636	Transcription regulatory protein	BrainSpLMD|96764	OMIM|606461
EN-V1-2	UBAC1	0.709034367	0.001380016	Unclassified	BrainSpLMD|10422;Eurexp|euxassay_003575|dorsal root ganglion, facial VII, glossopharyngeal IX, left, right, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|608129
EN-V1-2	ZNRF1	0.470950401	0.001398608	Ubiquitin proteasome system protein	BrainSpLMD|84937	OMIM|612060
EN-V1-2	LSM7	0.343948674	0.001443073	RNA binding protein	BrainSpLMD|51690	OMIM|607287
EN-V1-2	HCG18	0.506436546	0.001444567			
EN-V1-2	RNGTT	0.325003926	0.001492382	Enzyme: Adenosyltransferase	BrainSpLMD|8732	OMIM|603512
EN-V1-2	CCDC12	0.363132458	0.001567723	Unclassified	BrainSpLMD|151903	
EN-V1-2	HNRNPRP1	0.686266141	0.001619121			
EN-V1-2	GARS	0.316192918	0.001643259	Enzyme: Ligase	BrainSpLMD|2617	OMIM|600287;HPO|2617|Autosomal dominant inheritance, Cold-induced hand cramps, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, First dorsal interossei muscle atrophy, First dorsal interossei muscle weakness, Hammertoe, Hyporeflexia, Onset, Pes cavus, Scoliosis, Slow progression, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness
EN-V1-2	PSMG4	0.343326381	0.001646062	Unclassified		OMIM|617550
EN-V1-2	MRPL27	0.301177565	0.001658393	Ribosomal subunit	BrainSpLMD|51264	OMIM|611837
EN-V1-2	SPAST	0.268260176	0.001661659	Cytoskeletal associated protein	BrainSpLMD|6683	SFARI||Autism, 2 - Strong candidate;OMIM|604277;HPO|6683|Aggressive behavior, Agitation, Apathy, Autosomal dominant inheritance, Babinski sign, Degeneration of the lateral corticospinal tracts, Dementia, Depressivity, Disinhibition, Genetic anticipation, Hyperreflexia, Impaired vibration sensation in the lower limbs, Insidious onset, Intellectual disability, Low back pain, Lower limb muscle weakness, Memory impairment, Nystagmus, Paraplegia, Progressive, Spastic gait, Spastic paraplegia, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency, Variable expressivity
EN-V1-2	PPP1R11	0.340481216	0.00166827	Regulatory/other subunit	BrainSpLMD|6992;Eurexp|euxassay_007087|embryo	OMIM|606670
EN-V1-2	TGFBR1	0.496305251	0.001690229	Receptor serine/threonine kinase	BrainSpLMD|7046;Eurexp|euxassay_018304|olfactory, vomeronasal organ;BrainSpMouseDev|21571	OMIM|190181;HPO|7046|Abnormality of the iris, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Arachnodactyly, Arterial dissection, Arterial tortuosity, Ascending aortic dissection, Atypical scarring of skin, Bifid uvula, Blue sclerae, Camptodactyly of finger, Cardiomegaly, Chest pain, Coronary artery disease, Craniosynostosis, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Exertional dyspnea, High palate, Hypertelorism, Hypertension, Left ventricular failure, Malar flattening, Micrognathia, Oral cleft, Paroxysmal dyspnea, Patent ductus arteriosus, Pes planus, Scoliosis, Striae distensae, Tall stature, Uterine rupture
EN-V1-2	RP11.434H6.7	0.452072985	0.001743949			
EN-V1-2	ANKRD44	0.490393149	0.001745379	Unclassified	BrainSpLMD|91526	
EN-V1-2	CCT7	0.279839988	0.001748226	Chaperone	BrainSpLMD|10574	OMIM|605140
EN-V1-2	PDCD5	0.412025932	0.001758038	Unclassified	BrainSpLMD|9141	OMIM|604583
EN-V1-2	SLC9A6	0.354386464	0.001924674	Transport/cargo protein	BrainSpLMD|10479;Eurexp|euxassay_012153|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	SFARI||Autism, No category;OMIM|300231;HPO|10479|Abnormality of the foot, Absent speech, Adducted thumb, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Autism, Bowel incontinence, Cachexia, Cerebellar atrophy, Cerebral cortical atrophy, Conspicuously happy disposition, Decreased body weight, Developmental regression, Drooling, Dysphagia, Dystonia, Feeding difficulties in infancy, Flexion contracture, Gait ataxia, Gastroesophageal reflux, Generalized hypotonia, Generalized seizures, Global developmental delay, Happy demeanor, Hyperkinesis, Inappropriate laughter, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Long face, Long nose, Loss of ability to walk in first decade, Macrotia, Mandibular prognathia, Microcephaly, Mutism, Narrow chest, Narrow face, Neuronal loss in central nervous system, Nystagmus, Open mouth, Ophthalmoplegia, Pectus excavatum, Photosensitive tonic-clonic seizures, Severe global developmental delay, Skeletal muscle atrophy, Sleep disturbance, Slender finger, Stereotypy, Strabismus, Thick eyebrow, Truncal ataxia, Urinary incontinence, Ventriculomegaly, X-linked dominant inheritance
EN-V1-2	RP1.283E3.8	0.632571569	0.001966155			
EN-V1-2	ATIC	0.275137003	0.001989082	Enzyme: Hydrolase	BrainSpLMD|471;Eurexp|euxassay_001450|cortex, heart, left ventricle, olfactory, right ventricle	OMIM|601731;COSMIC||ALCL;HPO|471|Abnormality of metabolism/homeostasis, Abnormality of the skin, Anteverted nares, Atrial septal defect, Autosomal recessive inheritance, Brachycephaly, Clitoral hypertrophy, Congenital blindness, Frontal bossing, Fused labia minora, Generalized hypotonia, Intellectual disability, profound, Intellectual disability, severe, Low-set ears, Optic atrophy, Prominent forehead, Prominent nasal bridge, Seizures, Thin upper lip vermilion, Wide mouth
EN-V1-2	RPS10	0.386609125	0.002048989	Ribosomal subunit	Eurexp|euxassay_005918|embryo	OMIM|603632;HPO|6204|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Anemia, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Growth delay, Macrocytic anemia, Migraine, Pallor, Vitamin D deficiency
EN-V1-2	ERI3	0.287857718	0.00206081	Unclassified	BrainSpLMD|79033	OMIM|609917
EN-V1-2	GART	0.468555905	0.002141831	Enzyme: Transferase	BrainSpLMD|2618	OMIM|138440
EN-V1-2	SNX14	0.346536807	0.002150364	Transport/cargo protein	BrainSpLMD|57231	SFARI||Autism, No category;OMIM|616105;HPO|57231|Anteverted nares, Apraxia, Ataxia, Autistic behavior, Autosomal recessive inheritance, Babinski sign, Brachydactyly, Broad face, Broad philtrum, Camptodactyly, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral cortical atrophy, Clinodactyly, Coarse facial features, Delayed eruption of teeth, Dental crowding, Epicanthus, Generalized hypotonia, Global developmental delay, High palate, Hyporeflexia, Inability to walk, Infantile onset, Long philtrum, Prominent forehead, Relative macrocephaly, Short palpebral fissure, Spasticity, Talipes equinovarus, Thick vermilion border, Wide nasal base
EN-V1-2	ATP2C1	0.473913643	0.00219731	ATPase	BrainSpLMD|27032	OMIM|604384;HPO|27032|Acantholysis, Autosomal dominant inheritance, Erythema, Hyperkeratosis, Skin erosion, Skin vesicle
EN-V1-2	ZNF131	0.260617013	0.002312902	Transcription factor	BrainSpLMD|7690;Eurexp|euxassay_002507|axial muscle, axial skeleton, dorsal root ganglion	OMIM|604073
EN-V1-2	GMFB	0.370242444	0.00236013	Growth factor	BrainSpLMD|2764	OMIM|601713
EN-V1-2	PRPF39	0.258481935	0.00240233	Unclassified	BrainSpLMD|55015	SFARI||Autism, 4 - Minimal evidence;OMIM|614907
EN-V1-2	SRPRB	0.383708489	0.002492	GTPase	BrainSpLMD|58477;Eurexp|euxassay_010365|basioccipital bone, clavicle, femur, humerus, mandible, maxilla, naris, orbito-sphenoid, rib, sternum, tibia, turbinate bones	OMIM|616883
EN-V1-2	ATP2A2	0.316250368	0.002505306	Membrane transport protein	BrainSpLMD|488	OMIM|108740;HPO|488|Abnormality of the hair, Acrokeratosis, Anal mucosal leukoplakia, Autosomal dominant inheritance, Bipolar affective disorder, Enlargement of parotid gland, Epidermal acanthosis, Hyperkeratosis, Hypermelanotic macule, Intellectual disability, mild, Palmar pits, Palmoplantar keratoderma, Plantar pits, Pruritus, Ridged nail, Schizophrenia, Seizures, Subungual hyperkeratotic fragments
EN-V1-2	C12orf45	0.593287536	0.002639012	Unclassified		
EN-V1-2	FAT4	0.265567425	0.002671476	Adhesion molecule	BrainSpLMD|79633	OMIM|612411;COSMIC||lymphoma, pancreatic, head and neck, melanoma, hepatocellular carcinoma, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2;HPO|79633|Atresia of the external auditory canal, Autosomal recessive inheritance, Bifid scrotum, Blepharophimosis, Clinodactyly, Conductive hearing impairment, Congenital onset, Cryptorchidism, Cutaneous finger syndactyly, Dental malocclusion, Downturned corners of mouth, Epicanthus, Feeding difficulties, Generalized hypotonia, Growth delay, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypospadias, Intellectual disability, Irregular dentition, Joint laxity, Malar flattening, Micrognathia, Micropenis, Microtia, Midface retrusion, Narrow chest, Narrow forehead, Osteopenia, Ptosis, Renal hypoplasia, Sacral dimple, Scoliosis, Sensorineural hearing impairment, Short 4th metacarpal, Short clavicles, Short fourth metatarsal, Short palpebral fissure, Skeletal dysplasia, Talipes equinovarus, Tented upper lip vermilion, Tracheomalacia, Wide anterior fontanel, Wide cranial sutures, Wide nasal bridge
EN-V1-2	EXOC6	0.340229897	0.002928723	Membrane transport protein	BrainSpLMD|54536;Eurexp|euxassay_001597|bladder, diencephalon, dorsal root ganglion, hindbrain, lobe, mantle layer, marginal layer, midbrain, spinal cord, thymus primordium, tongue, trigeminal V, vagus X	SFARI||Autism, No category;OMIM|609672
EN-V1-2	EDEM3	0.558775777	0.00310845	Enzyme: Hydrolase	BrainSpLMD|80267	OMIM|610214
EN-V1-2	ACAT1	0.287657315	0.00324666	Enzyme: Acyltransferase	BrainSpLMD|38	OMIM|607809;HPO|38|Autosomal recessive inheritance, Dehydration, Episodic ketoacidosis, Intellectual disability, Vomiting
EN-V1-2	TOMM5	0.605144204	0.003248641	Unclassified		OMIM|616169
EN-V1-2	TRIM28	0.629159034	0.00326375	Transcription regulatory protein	BrainSpLMD|10155;BrainSpMouseDev|21608	OMIM|601742
EN-V1-2	NECAP1	0.299308314	0.003373448	Unclassified	BrainSpLMD|25977	OMIM|611623;HPO|25977|Autosomal recessive inheritance, Decreased fetal movement, Epileptic encephalopathy, Feeding difficulties, Generalized hypotonia, Global developmental delay, Muscular hypotonia of the trunk
EN-V1-2	ZBTB41	0.550174199	0.003710429	DNA binding protein	BrainSpLMD|360023	
EN-V1-2	GUK1	0.395728565	0.003717509	Enzyme: Phosphotransferase	BrainSpLMD|2987	OMIM|139270
EN-V1-2	SDHB	0.341998325	0.003860306	Enzyme: Dehydrogenase	BrainSpLMD|6390;Eurexp|euxassay_018430|embryo	OMIM|185470;COSMIC||paraganglioma, pheochromocytoma;HPO|6390|Abdominal pain, Abnormality of the penis, Adenoma sebaceum, Adrenal pheochromocytoma, Adult onset, Ataxia, Autosomal dominant inheritance, Breast carcinoma, Cafe-au-lait spot, Cavernous hemangioma, Cerebral hemorrhage, Chemodectoma, Cognitive impairment, Colorectal polyposis, Congenital cataract, Congestive heart failure, Conjunctival hamartoma, Constipation, Cranial nerve paralysis, Dysphagia, Elevated urinary catecholamines, Elevated urinary norepinephrine, Endometrial carcinoma, Episodic hypertension, Episodic paroxysmal anxiety, Extraadrenal pheochromocytoma, Fatigue, Furrowed tongue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Generalized hyperkeratosis, Global developmental delay, Glomus jugular tumor, Goiter, Hamartomatous polyposis, Hearing impairment, Hemangioma, Hypercalcemia, Hyperhidrosis, Hyperpigmentation of the skin, Hypertension associated with pheochromocytoma, Hypertensive retinopathy, Incomplete penetrance, Intellectual disability, Intestinal obstruction, Large hands, Lipoma, Macrocephaly, Macroglossia, Macule, Melanocytic nevus, Meningioma, Mucosal telangiectasiae, Nausea and vomiting, Neoplasm, Neoplasm of the gastrointestinal tract, Neoplasm of the stomach, Neurofibromas, Palmoplantar keratoderma, Palpitations, Papillary thyroid carcinoma, Papilloma, Papule, Paraganglioma, Pheochromocytoma, Positive regitine blocking test, Proteinuria, Pulsatile tinnitus, Recurrent paroxysmal headache, Renal artery stenosis, Renal cell carcinoma, Sarcoma, Sporadic, Subcutaneous nodule, Tachycardia, Tinnitus, Urticaria, Uterine leiomyoma, Weight loss
EN-V1-2	ADCYAP1R1	0.267517874	0.003902161	G protein coupled receptor	BrainSpLMD|117;Eurexp|euxassay_009317|brain, cervical, cervico-thoracic, medulla, mesenchyme, midgut, oesophagus, spinal cord, stomach, thoracic, tongue, trigeminal V, ventricle, ventricular layer;BrainSpMouseDev|11304	OMIM|102981
EN-V1-2	SLC23A2	0.286981381	0.003913738	Transport/cargo protein	BrainSpLMD|9962;Eurexp|euxassay_019254|adrenal gland, choroid plexus	OMIM|603791
EN-V1-2	UFC1	0.378623684	0.003973717	Unclassified	BrainSpLMD|51506;Eurexp|euxassay_000654|chondrocranium	OMIM|610554
EN-V1-2	DCTN4	0.408865377	0.004050449	Unclassified	BrainSpLMD|51164	OMIM|614758;HPO|51164|Biliary cirrhosis, Decreased antibody level in blood, Exocrine pancreatic insufficiency, Immunodeficiency, Malabsorption, Pulmonary fibrosis, Recurrent respiratory infections
EN-V1-2	BSN	0.672917796	0.004129731	Transcription factor	BrainSpLMD|8927;Eurexp|euxassay_008029|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|604020
EN-V1-2	PIAS2	0.290275729	0.004245845	Transcription regulatory protein	BrainSpLMD|9063	OMIM|603567
EN-V1-2	PITHD1	0.330902171	0.004263017	Unclassified	BrainSpLMD|57095;Eurexp|euxassay_005109|adenohypophysis, brain, cervical, cervico-thoracic, cranial muscle, dorsal root ganglion, glossopharyngeal IX, incisor, liver, lung, metanephros, molar, naris, olfactory, orbito-sphenoid, rectum, respiratory, respiratory tract, spinal cord, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vestibulocochlear VIII, vibrissa	
EN-V1-2	CSGALNACT2	0.260803169	0.004319178	Enzyme: Galactosyltransferase	BrainSpLMD|55454	OMIM|616616
EN-V1-2	CMPK1	0.503335812	0.004360564	Enzyme: Phosphotransferase	BrainSpLMD|51727	OMIM|191710
EN-V1-2	AKAP12	0.262885375	0.004385077	Anchor protein	BrainSpLMD|9590	OMIM|604698
EN-V1-2	INPP4A	0.297541634	0.004447616	Enzyme: Phosphatase	BrainSpLMD|3631;Eurexp|euxassay_011291|dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|600916
EN-V1-2	RFX7	0.339451891	0.004547824	Unclassified	BrainSpLMD|64864	OMIM|612660
EN-V1-2	MEMO1	0.425297327	0.004648245	Unclassified	BrainSpLMD|51072	OMIM|611786
EN-V1-2	POU6F1	1.05142876	0.00487168	Transcription factor	Eurexp|euxassay_005193|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, limb, metanephros, skeleton, spinal cord, testis, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|18772	
EN-V1-2	UCHL5	0.524832363	0.004920718	Ubiquitin proteasome system protein	BrainSpLMD|51377;Eurexp|euxassay_011648|cortex, fundus region, incisor, lobe, lung, mandible, midgut, molar, naris, olfactory, orbito-sphenoid, pancreas, rectum, stomach, sublingual gland primordium, submandibular gland primordium, testis, thymus primordium, urethra, ventricular layer, vibrissa, vomeronasal organ	OMIM|610667
EN-V1-2	ZNF382	0.323289246	0.005016835	Transcription regulatory protein	BrainSpLMD|84911	OMIM|609516
EN-V1-2	CACNB2	0.468842229	0.00526918	Voltage gated channel	BrainSpLMD|783;Eurexp|euxassay_008283|epithalamus, marginal layer, ventricular layer	SFARI||Autism, 3 - Suggestive evidence;OMIM|600003;HPO|783|Atrial fibrillation, Autosomal dominant inheritance, Shortened QT interval, Syncope
EN-V1-2	CDC42BPA	0.255731237	0.005466138	Serine/threonine kinase	BrainSpLMD|8476	OMIM|603412
EN-V1-2	UQCRC2	0.288987358	0.005517603	Enzyme: Reductase	BrainSpLMD|7385;Eurexp|euxassay_018923|aorta, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, vibrissa	OMIM|191329;HPO|7385|Autosomal recessive inheritance, Hyperammonemia, Hypoglycemia, Increased serum lactate, Increased serum pyruvate, Metabolic acidosis
EN-V1-2	ZC3H11B	0.281011049	0.005648295			
EN-V1-2	UBLCP1	0.320560191	0.005798325	Enzyme: Phosphatase	BrainSpLMD|134510	OMIM|609867
EN-V1-2	MRPL45	0.307259875	0.006045792	Ribosomal subunit	BrainSpLMD|84311	OMIM|611850
EN-V1-2	IGBP1	0.423517959	0.006161345	Unclassified	BrainSpLMD|3476;Eurexp|euxassay_015599|embryo	OMIM|300139;HPO|3476|Agenesis of corpus callosum, Broad neck, Choanal atresia, Cleft palate, Cupped ear, Downslanted palpebral fissures, High forehead, High palate, Intellectual disability, Iris coloboma, Low-set ears, Macrocephaly, Nystagmus, Optic nerve coloboma, Patent ductus arteriosus, Pectus excavatum, Prominent nasal bridge, Retrognathia, Scoliosis, Sensorineural hearing impairment, Short neck, Short stature, Ventricular septal defect, Visual impairment, X-linked recessive inheritance
EN-V1-2	SHISA5	0.722536293	0.006351717	Integral membrane protein	BrainSpLMD|51246	OMIM|607290
EN-V1-2	SAMD8	0.316432628	0.006440924	Integral membrane protein	BrainSpLMD|142891	OMIM|611575
EN-V1-2	DAZAP1	0.595148146	0.006517942	RNA binding protein	BrainSpLMD|26528	OMIM|607430
EN-V1-2	NIFK	0.257235341	0.00680314	RNA binding protein	BrainSpLMD|84365	OMIM|611970
EN-V1-2	HMG20A	0.372469722	0.006975735	Transcription regulatory protein	BrainSpLMD|10363;Eurexp|euxassay_007766|axial skeleton, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, midgut, neural retina, spinal cord, stomach, testis, thoracic, thyroid, trigeminal V, vagus X, ventricle, vestibulocochlear VIII;BrainSpMouseDev|42710	OMIM|605534
EN-V1-2	SSX2IP	0.686480676	0.006980386	Adhesion molecule	BrainSpLMD|117178	OMIM|608690
EN-V1-2	IFI44	0.490714897	0.007103213	Unclassified	BrainSpLMD|10561	OMIM|610468
EN-V1-2	TADA2A	0.260234617	0.007409381	Transcription regulatory protein	BrainSpLMD|6871	OMIM|602276
EN-V1-2	SUMO3	0.296142272	0.007775081	Ubiquitin proteasome system protein	BrainSpLMD|6612	OMIM|602231
EN-V1-2	CRK	0.409093571	0.0078066	Adapter molecule	BrainSpLMD|1398	OMIM|164762
EN-V1-2	CYTH1	0.312471164	0.007825732	Guanine nucleotide exchange factor	BrainSpLMD|9267	OMIM|182115
EN-V1-2	SF3B5	0.364494976	0.007851208	Unclassified	BrainSpLMD|83443;Eurexp|euxassay_005026|orbito-sphenoid, ventricular layer	
EN-V1-2	LIX1L	0.41857743	0.007927551	Unclassified	BrainSpLMD|128077	
EN-V1-2	CAND1	0.348263026	0.007938216	Transcription regulatory protein	BrainSpLMD|55832	OMIM|607727
EN-V1-2	C4orf27	0.339656487	0.008146792			
EN-V1-2	C1orf131	0.29645537	0.008203443	Unclassified	BrainSpLMD|128061	
EN-V1-2	CAMKK2	0.290495642	0.008271219	Enzyme: Phosphorylase	BrainSpLMD|10645;Eurexp|euxassay_003670|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, midbrain, neural retina, telencephalon, testis, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|615002
EN-V1-2	PIP4K2B	0.460059867	0.008531574	Lipid Kinase	BrainSpLMD|8396;Eurexp|euxassay_004158|diencephalon, mandible, olfactory, petrous part, telencephalon, ventricular layer	OMIM|603261
EN-V1-2	RAB7A	0.371390309	0.008601172	GTPase	BrainSpLMD|7879	OMIM|602298;HPO|7879|Areflexia, Autoamputation of foot, Autosomal dominant inheritance, Axonal degeneration/regeneration, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Dystrophic toenail, Foot dorsiflexor weakness, Foot osteomyelitis, Hammertoe, Hyporeflexia, Peripheral axonal atrophy, Pes cavus, Pes planus, Steppage gait
EN-V1-2	FAM126B	0.488971749	0.008818483	Unclassified	BrainSpLMD|285172	
EN-V1-2	SRFBP1	0.270135039	0.009103737	Transcription regulatory protein	BrainSpLMD|153443;Eurexp|euxassay_003230|axial muscle, capsule, cortex, orbito-sphenoid, submandibular gland primordium, testis	OMIM|610479
EN-V1-2	MAGEH1	0.315576087	0.009395433	Cell cycle control protein	BrainSpLMD|28986;Eurexp|euxassay_005123|adenohypophysis, brain, cervical, cervico-thoracic, glossopharyngeal IX, mandible, maxilla, olfactory, respiratory, retina, spinal cord, sternum, tail, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|300548
EN-V1-2	PCNX	0.321658277	0.009435827			
EN-V1-2	COA3	0.375202654	0.009715683	Unclassified	BrainSpLMD|28958	OMIM|614775
EN-V1-2	WDR12	0.588328209	0.009930687	Unclassified	BrainSpLMD|55759;Eurexp|euxassay_005293|embryo;BrainSpMouseDev|37022	OMIM|616620
EN-PFC2	SLN	3.824070384	0	Integral membrane protein	BrainSpLMD|6588;Eurexp|euxassay_005363|atrium, mesenchyme, skeletal muscle, tail, tongue, vertebral axis muscle system	OMIM|602203
EN-PFC2	PMCHL2	3.387096988	0	Peptide hormone	BrainSpLMD|5370	OMIM|176794
EN-PFC2	CPNE8	3.373782732	0	Unclassified	BrainSpLMD|144402	
EN-PFC2	CBLN2	2.998928475	0	Integral membrane protein	BrainSpLMD|147381;Eurexp|euxassay_009791|cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, mesenchyme, midgut, organ system, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|12190	OMIM|600433
EN-PFC2	STK32B	2.788435129	0	Serine/threonine kinase	BrainSpLMD|55351;Eurexp|euxassay_011693|exoccipital bone, fibula, footplate, hip, marginal layer, nasal septum, orbito-sphenoid, otic capsule, petrous part, rib, thyroid, tibia, trachea, turbinate, vault of skull, ventral grey horn	
EN-PFC2	RP11.136K7.2	2.698216142	0			
EN-PFC2	KCNQ5.IT1	2.639932985	0			
EN-PFC2	RSPO3	2.589019204	0	Ligand;Extracellular matrix protein	BrainSpLMD|84870;Eurexp|euxassay_011723|mantle layer, mesenchyme, orbito-sphenoid, pectoral girdle and thoracic body wall, penis;BrainSpMouseDev|48621	OMIM|610574;COSMIC||colorectal
EN-PFC2	KCNV1	2.578212482	0	Voltage gated channel	BrainSpLMD|27012	OMIM|608164
EN-PFC2	HSPA12A	2.442557546	0	Heat shock protein	BrainSpLMD|259217	OMIM|610701
EN-PFC2	CALN1	2.397340996	0	Calcium binding protein	BrainSpLMD|83698	OMIM|607176
EN-PFC2	VSTM2L	2.364934444	0	Unclassified	BrainSpLMD|128434;Eurexp|euxassay_007444|embryo	OMIM|616537
EN-PFC2	KCNJ6	2.287220503	0	Inward rectifier channel	BrainSpLMD|3763;BrainSpMouseDev|16295	OMIM|600877;HPO|3763|Abnormality of eye movement, Abnormality of the forehead, Absence of subcutaneous fat, Autosomal dominant inheritance, Congenital generalized lipodystrophy, Decreased testicular size, Dimple chin, Dyspnea, Failure to thrive, Flexion contracture, Generalized lipodystrophy, Gingival overgrowth, High palate, High, narrow palate, Hyperreflexia, Hypertonia, Intellectual disability, profound, Intellectual disability, severe, Large eyes, Loss of facial adipose tissue, Mask-like facies, Microcephaly, Micrognathia, Narrow naris, Narrow nasal bridge, Open mouth, Opisthotonus, Polyhydramnios, Postnatal growth retardation, Premature skin wrinkling, Progeroid facial appearance, Prominent nasal tip, Proptosis, Recurrent pneumonia, Respiratory insufficiency, Scoliosis, Severe global developmental delay, Shallow orbits, Short philtrum, Spastic tetraparesis, Tented upper lip vermilion, Underdeveloped nasal alae, Upper airway obstruction
EN-PFC2	KCNQ5	2.272986341	0	Voltage gated channel	BrainSpLMD|56479	OMIM|607357
EN-PFC2	SEMA3E	2.248949993	0	Extracellular matrix protein	BrainSpLMD|9723;Eurexp|euxassay_002631|cochlea, lung, mantle layer, naris, olfactory, respiratory;BrainSpMouseDev|20112	OMIM|608166;HPO|9723|Abnormality of female internal genitalia, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Anophthalmia, Anosmia, Anterior hypopituitarism, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bifid scrotum, Choanal atresia, Chorioretinal coloboma, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased testicular size, Delayed eruption of teeth, Delayed puberty, Depressed nasal bridge, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Duodenal atresia, Dysphagia, Esophageal atresia, External ear malformation, Facial asymmetry, Facial palsy, Feeding difficulties, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypothyroidism, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphopenia, Malar flattening, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Ptosis, Pulmonic stenosis, Sparse axillary hair, Sparse pubic hair, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Umbilical hernia, Ventricular septal defect
EN-PFC2	KRT31	2.247395206	0	Structural protein	BrainSpLMD|3881	OMIM|601077
EN-PFC2	CCDC144A	2.186424155	0	Unclassified	BrainSpLMD|9720	
EN-PFC2	C8orf34	2.156263874	0	Unclassified	BrainSpLMD|116328	
EN-PFC2	ELMOD1	2.083113243	0	Unclassified	BrainSpLMD|55531;Eurexp|euxassay_015979|mantle layer, ventral grey horn, vibrissa	OMIM|615456
EN-PFC2	SCG2	2.077515281	0	Secreted polypeptide	BrainSpLMD|7857;Eurexp|euxassay_018265|adrenal gland, dorsal grey horn, mantle layer, marginal layer, olfactory, pancreas, pituitary, ventral grey horn;BrainSpMouseDev|20017	OMIM|118930
EN-PFC2	FGF14	1.947750489	0	Growth factor	BrainSpLMD|2259;BrainSpMouseDev|13946	OMIM|601515;HPO|2259|Autosomal dominant inheritance, Dysmetric saccades, Head tremor, Heterogeneous, Impaired smooth pursuit, Intellectual disability, mild, Memory impairment, Sensory axonal neuropathy, Slow progression, Strabismus, Truncal ataxia
EN-PFC2	CCBE1	1.946742035	0	Calcium binding protein	BrainSpLMD|147372	OMIM|612753;HPO|147372|Atrial septal defect, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Broad forehead, Camptodactyly, Conductive hearing impairment, Conical incisor, Coronal craniosynostosis, Cryptorchidism, Cutaneous finger syndactyly, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Ectopic kidney, Epicanthus, Erysipelas, Flat face, Gingival overgrowth, Glaucoma, Hirsutism, Horseshoe kidney, Hydronephrosis, Hyperactivity, Hypertelorism, Hypoalbuminemia, Hypoplastic iliac wing, Intellectual disability, Intestinal lymphangiectasia, Joint contracture of the hand, Low-set ears, Lymphedema, Malar flattening, Mild postnatal growth retardation, Narrow mouth, Narrow palate, Oligodontia, Pachygyria, Pectus excavatum, Pericardial effusion, Pericardial lymphangiectasia, Periorbital edema, Pleural effusion, Pleural lymphangiectasia, Protein-losing enteropathy, Rectal prolapse, Retrognathia, Scoliosis, Seizures, Sensorineural hearing impairment, Short foot, Short palm, Small hand, Smooth philtrum, Spina bifida occulta, Talipes equinovarus, Thyroid lymphangiectasia, Umbilical hernia, Ventricular septal defect, Vesicoureteral reflux, Wide nasal bridge
EN-PFC2	SATB2.AS1	1.938383356	0			
EN-PFC2	PCDH10	1.926699395	0	Adhesion molecule	BrainSpLMD|57575;Eurexp|euxassay_016446|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, rib, trigeminal V, ventral grey horn;BrainSpMouseDev|18292	SFARI||Autism, 4 - Minimal evidence;OMIM|608286
EN-PFC2	LDB2	1.923221181	0	Transcription regulatory protein	BrainSpLMD|9079;BrainSpMouseDev|16597	OMIM|603450
EN-PFC2	CNTN3	1.889670902	0	Immunoglobulin	Eurexp|euxassay_009023|mantle layer, marginal layer, ventral grey horn;BrainSpMouseDev|18254	SFARI||Autism, No category;OMIM|601325
EN-PFC2	LINC00643	1.886505855	0			
EN-PFC2	ITPR1	1.825780911	0	Intracellular ligand gated channel	BrainSpLMD|3708;Eurexp|euxassay_006317|choroid invagination, choroid plexus, roof plate;BrainSpMouseDev|16211	SFARI||Autism, 4 - Minimal evidence;OMIM|147265;HPO|3708|Abnormality of movement, Aniridia, Ataxia, Autosomal recessive inheritance, Cerebellar hypoplasia, Global developmental delay, Hypoplasia of the iris, Intellectual disability, Mask-like facies, Motor delay, Muscular hypotonia, Nystagmus, Postural tremor, Scanning speech, Slurred speech, Visual impairment
EN-PFC2	ADCY2	1.812632093	0	Adenylate cyclase	BrainSpLMD|108;BrainSpMouseDev|84170	OMIM|103071
EN-PFC2	SLCO3A1	1.804963046	0	Membrane transport protein	BrainSpLMD|28232;Eurexp|euxassay_000780|cervical, cervico-thoracic, dorsal root ganglion, thoracic, vagus X	OMIM|612435
EN-PFC2	CTD.2636A23.2	1.793052894	0			
EN-PFC2	MPPED1	1.775597743	0	Enzyme: Esterase	Eurexp|euxassay_009802|incisor, mantle layer, marginal layer, molar;BrainSpMouseDev|85966	OMIM|602112
EN-PFC2	SLITRK5	1.761550423	0	Integral membrane protein	BrainSpLMD|26050	SFARI||Autism, No category;OMIM|609680
EN-PFC2	SLC35F2	1.747669132	0	Membrane transport protein	BrainSpLMD|54733;Eurexp|euxassay_003909|genital tubercle, incisor, lateral wall, lung, mantle layer, metanephros, midgut, molar, naris, olfactory lobe, palatal shelf, pancreas, rectum, respiratory, submandibular gland primordium, thymus primordium, turbinate bones	
EN-PFC2	LMO4	1.728066641	0	Transcription regulatory protein	BrainSpLMD|8543;Eurexp|euxassay_004815|mantle layer, marginal layer, naris, submandibular gland primordium, vibrissa;BrainSpMouseDev|16681	OMIM|603129
EN-PFC2	RALYL	1.72637879	0	RNA binding protein	BrainSpLMD|138046;Eurexp|euxassay_006099|brain, spinal cord, trigeminal V	OMIM|614648
EN-PFC2	NKAIN2	1.668854386	0	Integral membrane protein	BrainSpLMD|154215	OMIM|609758
EN-PFC2	SLC8A1	1.635442709	0	Membrane transport protein	BrainSpLMD|6546;Eurexp|euxassay_018859|atrium, brain, olfactory, respiratory, spinal cord, ventricle	OMIM|182305
EN-PFC2	MB21D2	1.625061759	0	Unclassified	BrainSpLMD|151963	COSMIC||lung cancer
EN-PFC2	CSRP2	1.603063222	0	Adapter molecule	BrainSpLMD|1466;Eurexp|euxassay_016538|aorta, bladder, dorsal grey horn, hindgut, intermediate grey horn, mantle layer, midgut, neural retina, orbito-sphenoid, pancreas, skeletal muscle, stomach, temporal bone, turbinate, vault of skull	OMIM|601871
EN-PFC2	GNAL	1.570494232	0	G protein	BrainSpLMD|2774;Eurexp|euxassay_009060|dorsal root ganglion, mantle layer, trigeminal V	OMIM|139312;HPO|2774|Autosomal dominant inheritance, Laryngeal dystonia, Limb dystonia, Lingual dystonia, Torticollis
EN-PFC2	FGF12	1.568895745	0	Growth factor	BrainSpLMD|2257;BrainSpMouseDev|13944	OMIM|601513;HPO|2257|Absent speech, Autosomal dominant inheritance, Cerebellar atrophy, Chronic constipation, Developmental regression, Epileptic encephalopathy, Feeding difficulties, Hypsarrhythmia, Inability to walk, Limb ataxia, Multifocal epileptiform discharges, Muscular hypotonia of the trunk, Poor speech, Status epilepticus, Variable expressivity
EN-PFC2	GAREM	1.566895839	0			
EN-PFC2	PPP1R14C	1.563480463	0	Regulatory/other subunit	BrainSpLMD|81706	OMIM|613242
EN-PFC2	HIVEP2	1.545316946	0	DNA binding protein	BrainSpLMD|3097;Eurexp|euxassay_008979|marginal layer, mesenchyme;BrainSpMouseDev|15048	OMIM|143054;HPO|3097|Abnormal facial shape, Anxiety, Autistic behavior, Autosomal dominant inheritance, Constipation, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hyperactivity, Impulsivity, Infantile onset, Intellectual disability, Narrow mouth, Prominent nasal bridge, Tapered finger, Wide nasal bridge
EN-PFC2	SYT4	1.538163381	0	Calcium binding protein	BrainSpLMD|6860	OMIM|600103
EN-PFC2	RCAN1	1.501733372	0	Unclassified	BrainSpLMD|1827	OMIM|602917
EN-PFC2	ARPP21	1.493257731	0		BrainSpLMD|10777;Eurexp|euxassay_008422|brain, diaphragm, dorsal grey horn, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, head mesenchyme, lip, mantle layer, marginal layer, mesenchyme, olfactory, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, spinal cord, tail, thymus primordium, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|605488
EN-PFC2	TSHZ3	1.49277142	0	DNA binding protein	BrainSpLMD|57616;Eurexp|euxassay_005648|dorsal root ganglion	SFARI||Autism, 4 - Minimal evidence;OMIM|614119
EN-PFC2	SPOCK1	1.482530187	0	Extracellular matrix protein	BrainSpLMD|6695;Eurexp|euxassay_008541|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, incisor, mantle layer, midbrain, molar, neural retina, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|602264
EN-PFC2	CXXC4	1.478361762	0	Unclassified	BrainSpLMD|80319;Eurexp|euxassay_008607|bladder, brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, head mesenchyme, incisor, larynx, medullary stroma, mesenchyme, midgut, molar, naris, neural retina, oesophagus, olfactory, pancreas, pelvic girdle, skeletal muscle, spinal cord, stomach, thoracic, thymus primordium, thyroid, trachea, trigeminal V, trunk mesenchyme, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|106413	OMIM|611645
EN-PFC2	CSMD1	1.478302597	0	Integral membrane protein	BrainSpLMD|64478	SFARI||Autism, No category;OMIM|608397
EN-PFC2	RIMBP2	1.474837636	0	Unclassified	BrainSpLMD|23504	OMIM|611602
EN-PFC2	CNTN4	1.47102484	0	Adhesion molecule	BrainSpLMD|152330	SFARI||Autism, 2 - Strong candidate;OMIM|607280;HPO|152330|Atrioventricular canal defect, Brachycephaly, Cleft palate, Cognitive impairment, Cryptorchidism, Downturned corners of mouth, Epicanthus, Hearing impairment, High palate, Hypertelorism, Intrauterine growth retardation, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscular hypotonia, Postaxial hand polydactyly, Ptosis, Short stature, Telecanthus
EN-PFC2	FAT4	1.455846824	0	Adhesion molecule	BrainSpLMD|79633	OMIM|612411;COSMIC||lymphoma, pancreatic, head and neck, melanoma, hepatocellular carcinoma, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2;HPO|79633|Atresia of the external auditory canal, Autosomal recessive inheritance, Bifid scrotum, Blepharophimosis, Clinodactyly, Conductive hearing impairment, Congenital onset, Cryptorchidism, Cutaneous finger syndactyly, Dental malocclusion, Downturned corners of mouth, Epicanthus, Feeding difficulties, Generalized hypotonia, Growth delay, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypospadias, Intellectual disability, Irregular dentition, Joint laxity, Malar flattening, Micrognathia, Micropenis, Microtia, Midface retrusion, Narrow chest, Narrow forehead, Osteopenia, Ptosis, Renal hypoplasia, Sacral dimple, Scoliosis, Sensorineural hearing impairment, Short 4th metacarpal, Short clavicles, Short fourth metatarsal, Short palpebral fissure, Skeletal dysplasia, Talipes equinovarus, Tented upper lip vermilion, Tracheomalacia, Wide anterior fontanel, Wide cranial sutures, Wide nasal bridge
EN-PFC2	RPRM	1.448263019	0	Cell cycle control protein	BrainSpLMD|56475;Eurexp|euxassay_009961|cortex, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, mantle layer, marginal layer, metanephros, neural retina, olfactory, penis, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|43717	OMIM|612171
EN-PFC2	LPHN3	1.44205933	0			
EN-PFC2	LIMCH1	1.434772578	0	Unclassified	BrainSpLMD|22998	OMIM|617750
EN-PFC2	FAM49A	1.415540112	0	Unclassified	BrainSpLMD|81553;Eurexp|euxassay_007357|mantle layer	
EN-PFC2	DISP2	1.407787727	0	Integral membrane protein	BrainSpLMD|85455;Eurexp|euxassay_009571|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, neural retina, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607503
EN-PFC2	SATB2	1.405508569	0	Transcription regulatory protein	BrainSpLMD|23314;Eurexp|euxassay_018949|axial skeleton, clavicle, femur, fibula, humerus, intermediate grey horn, laryngeal, larynx, mandible, mantle layer, maxilla, mesenchyme, orbito-sphenoid, palatal shelf, pelvic girdle, rib, scapula, shoulder, tibia;BrainSpMouseDev|84457	SFARI||Autism, 4 - Minimal evidence;OMIM|608148;HPO|23314|Aggressive behavior, Arachnodactyly, Autosomal dominant inheritance, Broad-based gait, Bulbous nose, Camptodactyly, Cleft palate, Conical tooth, Delayed speech and language development, Dental crowding, Downslanted palpebral fissures, Feeding difficulties, Fine hair, Frontal bossing, Global developmental delay, Happy demeanor, High forehead, High palate, Hyperactivity, Inguinal hernia, Intellectual disability, Intellectual disability, severe, Long face, Long nose, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Midface retrusion, Muscular hypotonia, Nail dysplasia, Narrow mouth, Narrow nose, Oligodontia, Prominent nasal bridge, Seizures, Short stature, Smooth philtrum, Sparse hair, Talipes equinovarus, Thin skin, Thin vermilion border
EN-PFC2	ADRA2A	1.400277941	0	G protein coupled receptor	BrainSpLMD|150;Eurexp|euxassay_010849|basisphenoid bone, mantle layer, marginal layer, naris, nasal capsule, olfactory, ventral grey horn;BrainSpMouseDev|11338	OMIM|104210
EN-PFC2	DOCK9	1.39019451	0	Guanine nucleotide exchange factor	BrainSpLMD|23348	OMIM|607325
EN-PFC2	GRIN2B	1.378574429	0	Extracellular ligand gated channel	BrainSpLMD|2904;BrainSpMouseDev|14588	SFARI||Autism, 1 - High confidence;OMIM|138252;HPO|2904|Abnormality of skin morphology, Absent speech, Autosomal dominant inheritance, Behavioral abnormality, Developmental regression, EEG abnormality, Epileptic encephalopathy, Generalized hypotonia, Global developmental delay, Hypsarrhythmia, Infantile spasms, Intellectual disability, Myoclonus, Seizures, Variable expressivity
EN-PFC2	CACNA2D1	1.354771184	0	Voltage gated channel	BrainSpLMD|781;Eurexp|euxassay_006438|dorsal grey horn, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, pituitary, skeletal muscle, trigeminal V, ventral grey horn, vertebral axis muscle system;BrainSpMouseDev|12078	OMIM|114204;HPO|781|Atrial fibrillation, Bradycardia, Palpitations, Shortened QT interval
EN-PFC2	DAB1	1.347737322	0	Adapter molecule	BrainSpLMD|1600;Eurexp|euxassay_017879|basal columns, footplate, lip, mantle layer, maxilla, mesenchyme, naris, ventricular layer;BrainSpMouseDev|12911	SFARI||Autism, 5 - Hypothesized but untested;OMIM|603448;HPO|1600|Ataxia, Autosomal dominant inheritance, Dysarthria, Frequent falls, Slow progression, Unsteady gait
EN-PFC2	RNF152	1.347111345	0	Ubiquitin proteasome system protein	BrainSpLMD|220441	OMIM|616512
EN-PFC2	DUSP4	1.332118168	0	Dual specificity phosphatase	BrainSpLMD|1846;Eurexp|euxassay_008070|brain, olfactory, spinal cord	OMIM|602747
EN-PFC2	SCUBE1	1.32370119	0	Secreted polypeptide	BrainSpLMD|80274;BrainSpMouseDev|41281	OMIM|611746
EN-PFC2	ATP8A2	1.316367411	0	ATPase	BrainSpLMD|51761;Eurexp|euxassay_009705|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605870;HPO|51761|Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Cerebral palsy, Congenital onset, Corpus callosum atrophy, Dysarthria, Gait disturbance, Hyperreflexia, Inability to walk, Intellectual disability, Muscular hypotonia, Seizures, Short stature, Skeletal muscle atrophy, Strabismus, Truncal ataxia
EN-PFC2	LMO3	1.309192073	0	Transcription regulatory protein	BrainSpLMD|55885;Eurexp|euxassay_016491|intermediate grey horn, mantle layer, ventral grey horn;BrainSpMouseDev|73751	OMIM|180386
EN-PFC2	DYNC1I1	1.306291718	0	Motor protein	BrainSpLMD|1780;Eurexp|euxassay_006183|adrenal gland, cortex, diaphragm, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, mantle layer, marginal layer, ovary, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, tegmentum, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|603772
EN-PFC2	GAP43	1.296113486	0	Growth factor	BrainSpLMD|2596;Eurexp|euxassay_002973|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, midgut, nasal capsule, olfactory, rectum, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|14208	SFARI||Autism, 5 - Hypothesized but untested;OMIM|162060
EN-PFC2	GLRA2	1.289814828	0	Extracellular ligand gated channel	BrainSpLMD|2742;Eurexp|euxassay_006123|brain, spinal cord;BrainSpMouseDev|88304	SFARI||Autism, 5 - Hypothesized but untested;OMIM|305990
EN-PFC2	STMN2	1.27926031	0	Cytoskeletal associated protein	BrainSpLMD|11075;Eurexp|euxassay_009268|cervical, cervico-thoracic, dorsal root ganglion, facial VII, footplate, forebrain, glossopharyngeal IX, handplate, hindbrain, hindgut, incisor, lip, midbrain, midgut, neural retina, oesophagus, olfactory, spinal cord, stomach, thoracic, thymus primordium, tongue, trigeminal V, vestibulocochlear VIII, vibrissa, visceral, vomeronasal organ	OMIM|600621
EN-PFC2	NCDN	1.276989747	0	Unclassified	BrainSpLMD|23154;Eurexp|euxassay_001888|dorsal root ganglion, glossopharyngeal IX, marginal layer, trigeminal V, ventral grey horn	OMIM|608458
EN-PFC2	DLG2	1.26229212	0	Cell junction protein	BrainSpLMD|1740;Eurexp|euxassay_011686|cervical, cervico-thoracic, dorsal root ganglion, mandible, mantle layer, marginal layer, maxilla, thoracic, trigeminal V, ventral grey horn	OMIM|603583
EN-PFC2	PTPRO	1.259964324	0	Receptor tyrosine phosphatase	BrainSpLMD|5800;Eurexp|euxassay_000528|cerebral cortex, corpus striatum, hypothalamus, lateral wall, marginal layer, olfactory cortex, testis	OMIM|600579;HPO|5800|Autosomal recessive inheritance, Edema, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Variable expressivity
EN-PFC2	NELL2	1.253791375	0	Calcium binding protein	BrainSpLMD|4753;Eurexp|euxassay_010538|axial skeleton, brachial plexus, dorsal root ganglion, footplate, handplate, head mesenchyme, incisor, mantle layer, marginal layer, mesenchyme, mesentery, molar, neural retina, olfactory, paraxial mesenchyme, perioptic mesenchyme, peritoneal cavity, rib, ventricular layer	OMIM|602320
EN-PFC2	PRKCE	1.248874271	0	Serine/threonine kinase	BrainSpLMD|5581;Eurexp|euxassay_009722|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, spinal cord, trigeminal V, vagus X	OMIM|176975
EN-PFC2	GABBR2	1.237755239	0	G protein coupled receptor	BrainSpLMD|9568;BrainSpMouseDev|88950	OMIM|607340
EN-PFC2	SNAP25	1.237487407	0	Membrane transport protein	BrainSpLMD|6616;Eurexp|euxassay_015720|cervical, cervico-thoracic, dorsal root ganglion, extrinsic ocular muscle, facial VII, forebrain, glossopharyngeal IX, hindbrain, lip, midbrain, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|600322;HPO|6616|Areflexia, Ataxia, Autosomal dominant inheritance, Congenital onset, Decreased fetal movement, Difficulty walking, Dysarthria, Easy fatigability, Flexion contracture, Global developmental delay, Muscle weakness, Poor speech, Ptosis, Respiratory insufficiency
EN-PFC2	DSCAM	1.230054754	0	Adhesion molecule	BrainSpLMD|1826	SFARI||Autism, 1 - High confidence;OMIM|602523
EN-PFC2	MDGA1	1.228235816	0	Adhesion molecule	BrainSpLMD|266727;Eurexp|euxassay_011139|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|50603	OMIM|609626
EN-PFC2	CLMP	1.22358286	0		BrainSpLMD|79827;Eurexp|euxassay_001798|mantle layer, marginal layer	OMIM|611693;HPO|79827|Abnormal peristalsis, Autosomal recessive inheritance, Chronic diarrhea, Cognitive impairment, Congenital shortened small intestine, Decreased intestinal transit time, Failure to thrive, Hypotrichosis, Intestinal hypoplasia, Intestinal malrotation, Lipoatrophy, Short stature, Steatorrhea
EN-PFC2	TNR	1.222408548	0	Extracellular matrix protein	BrainSpLMD|7143;Eurexp|euxassay_012507|mantle layer, tegmentum, ventral grey horn	OMIM|601995
EN-PFC2	SRM	1.195648811	0	Enzyme: Synthase	BrainSpLMD|6723	OMIM|182891
EN-PFC2	GPR12	1.190587823	0	G protein coupled receptor	BrainSpLMD|2835;Eurexp|euxassay_005675|cerebral cortex	OMIM|600752
EN-PFC2	FAM155A	1.171564636	0	Unclassified	Eurexp|euxassay_010352|brain, spinal cord	
EN-PFC2	CAMKK2	1.162295585	0	Enzyme: Phosphorylase	BrainSpLMD|10645;Eurexp|euxassay_003670|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, midbrain, neural retina, telencephalon, testis, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|615002
EN-PFC2	MAPT	1.161821182	0	Structural protein	BrainSpLMD|4137;Eurexp|euxassay_002990|calyces, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, hindgut, mantle layer, marginal layer, midbrain, midgut, neural retina, olfactory, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|17529	OMIM|157140;HPO|4137|Abnormal brain FDG positron emission tomography, Abnormal pyramidal signs, Abnormality of the cerebral white matter, Adult onset, Aggressive behavior, Akinesia, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apathy, Apraxia, Autosomal dominant inheritance, Axial dystonia, Blurred vision, Bradykinesia, Collectionism, Dementia, Depressivity, Diplopia, Disinhibition, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphagia, Dysphasia, EEG with continuous slow activity, Echolalia, Emotional blunting, Eyelid apraxia, Falls, Frontal lobe dementia, Frontolimbic dementia, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait imbalance, Gliosis, Grammar-specific speech disorder, Granulovacuolar degeneration, Heterogeneous, Hyperorality, Inappropriate behavior, Inappropriate laughter, Inappropriate sexual behavior, Irritability, Kyphoscoliosis, Lack of insight, Language impairment, Loss of speech, Memory impairment, Morphological abnormality of the pyramidal tract, Mutism, Neurofibrillary tangles, Neuronal loss in central nervous system, Ophthalmoparesis, Parkinsonism, Perseveration, Personality changes, Photophobia, Polyphagia, Poor speech, Primitive reflex, Restlessness, Restrictive behavior, Retrocollis, Rigidity, Spoken Word Recognition Deficit, Sporadic, Stereotypy, Supranuclear gaze palsy, Temporal cortical atrophy, Thickened nuchal skin fold, Tremor
EN-PFC2	PROM1	1.155823417	0	Integral membrane protein	BrainSpLMD|8842;BrainSpMouseDev|18889	OMIM|604365;HPO|8842|Abnormal electroretinogram, Abnormality of color vision, Abnormality of macular pigmentation, Abnormality of retinal pigmentation, Abnormality of the choroid, Abnormality of the fovea, Abnormality of the retinal vasculature, Abnormality of the testis, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the macula, Atypical scarring of skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cataract, Central scotoma, Conductive hearing impairment, Cone/cone-rod dystrophy, Dyschromatopsia, Glaucoma, Granular macular appearance, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Macular degeneration, Macular dystrophy, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paroxysmal involuntary eye movements, Perifoveal ring of hyperautofluorescence, Peripheral visual field loss, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Retinal thinning, Rod-cone dystrophy, Sensorineural hearing impairment, Undetectable electroretinogram, Wide nasal bridge, Yellow/white lesions of the macula
EN-PFC2	FRMD4B	1.154894483	0	Unclassified		OMIM|617467
EN-PFC2	COTL1	1.145299003	0	Unclassified	BrainSpLMD|23406;Eurexp|euxassay_010951|cortex, embryo, epithelium, lens, mantle layer, marginal layer, midgut, neural retina, olfactory, stomach, thymus primordium, trachea, ventricular layer;BrainSpMouseDev|47883	OMIM|606748
EN-PFC2	GNAI1	1.141989269	0	G protein	BrainSpLMD|2770;Eurexp|euxassay_009056|dorsal root ganglion	OMIM|139310
EN-PFC2	KHDRBS2	1.136104701	0	RNA binding protein	BrainSpLMD|202559	SFARI||Autism, 4 - Minimal evidence;OMIM|610487
EN-PFC2	CDH12	1.134268729	0	Adhesion molecule	BrainSpLMD|1010;Eurexp|euxassay_016537|bladder, femur, hindgut, humerus, midgut, scapula;BrainSpMouseDev|84832	OMIM|600562
EN-PFC2	NCALD	1.131127914	0	Calcium binding protein	BrainSpLMD|83988;Eurexp|euxassay_005524|cervical, cervico-thoracic, dorsal root ganglion, forebrain, hindbrain, midbrain, spinal cord, thoracic, trigeminal V, vagus X, vibrissa	OMIM|606722
EN-PFC2	CLCN4	1.112255592	0	Voltage gated channel	BrainSpLMD|1183	OMIM|302910;HPO|1183|Coarse facial features, Generalized hypotonia, Global developmental delay, Intellectual disability, Intellectual disability, mild, X-linked recessive inheritance
EN-PFC2	SCN2A	1.090071377	0	Voltage gated channel	BrainSpLMD|6326	SFARI||Autism, 1 - High confidence;OMIM|182390;HPO|6326|Abnormality of skin morphology, Abnormality of vision, Ataxia, Autosomal dominant inheritance, Choreoathetosis, Cutaneous photosensitivity, Cyanosis, Deeply set eye, Developmental regression, Dialeptic seizures, Dysesthesia, Dyskinesia, EEG abnormality, Epileptic encephalopathy, Febrile seizures, Focal clonic seizures, Focal seizures, Focal seizures, afebril, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Generalized tonic-clonic seizures with focal onset, Global developmental delay, Hypertonia, Hypsarrhythmia, Infantile onset, Infantile spasms, Muscular hypotonia, Myoclonus, Neurodevelopmental delay, Normal interictal EEG, Obtundation status, Pschomotor retardation, Reduced consciousness/confusion, Seizures, Spastic tetraplegia, Status epilepticus, Tremor, Variable expressivity
EN-PFC2	FRRS1L	1.086462541	0	Integral membrane protein		OMIM|604574;HPO|23732|Absent speech, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Developmental regression, Epileptic encephalopathy, Gait disturbance, Generalized hypotonia, Global developmental delay, Intellectual disability, Myoclonus, Rigidity, Spasticity
EN-PFC2	PRKAR2B	1.069072359	0	Serine/threonine kinase	BrainSpLMD|5577;Eurexp|euxassay_012279|adrenal gland, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, lobe, midbrain, neural retina, skeletal muscle, spinal cord, submandibular gland primordium, telencephalon, testis, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|176912
EN-PFC2	CHL1	1.064724557	0	Adhesion molecule	BrainSpLMD|10752;BrainSpMouseDev|12446	OMIM|607416;HPO|10752|Atrioventricular canal defect, Brachycephaly, Cleft palate, Cognitive impairment, Cryptorchidism, Downturned corners of mouth, Epicanthus, Hearing impairment, High palate, Hypertelorism, Intrauterine growth retardation, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscular hypotonia, Postaxial hand polydactyly, Ptosis, Short stature, Telecanthus
EN-PFC2	R3HDM1	1.061365895	0	Unclassified	BrainSpLMD|23518	
EN-PFC2	CCDC144B	1.046780085	0	Unclassified		
EN-PFC2	SYT16	1.041724505	0	Membrane transport protein	BrainSpLMD|83851;Eurexp|euxassay_009743|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	OMIM|610950
EN-PFC2	GUCY1A2	1.037869737	0	Guanylate cyclase	BrainSpLMD|2977	SFARI||Autism, 4 - Minimal evidence;OMIM|601244
EN-PFC2	DOPEY2	1.034891845	0	Unclassified	BrainSpLMD|9980	OMIM|604803
EN-PFC2	TNIK	1.029427958	0	Serine/threonine kinase	BrainSpLMD|23043	OMIM|610005;HPO|23043|Autosomal recessive inheritance, Delayed speech and language development, Hyperactivity, Intellectual disability
EN-PFC2	SSBP2	1.02437344	0	Transcription regulatory protein	BrainSpLMD|23635;Eurexp|euxassay_004775|adenohypophysis, brain, diencephalon, forelimb, glossopharyngeal IX, hindbrain, hindlimb, mantle layer, marginal layer, mesenchyme, midbrain, olfactory, spinal cord, tail, trigeminal V, vestibulocochlear VIII	OMIM|607389
EN-PFC2	NAV2	1.00945678	0	DNA binding protein	BrainSpLMD|89797;Eurexp|euxassay_008549|incisor, mantle layer, marginal layer, molar, neural retina, skeletal muscle, submandibular gland primordium, thymus primordium, ventral grey horn, vertebral axis muscle system, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|607026
EN-PFC2	PLK2	1.007780521	0	Serine/threonine kinase	BrainSpLMD|10769;Eurexp|euxassay_015918|bladder, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, lung, mandible, mantle layer, maxilla, mesenchyme, olfactory, pancreas, sternum, ventral grey horn, vibrissa	OMIM|607023
EN-PFC2	REEP1	0.99706766	0	Unclassified	BrainSpLMD|65055;Eurexp|euxassay_005277|brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, skeletal muscle, spinal cord, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|609139;HPO|65055|Ankle clonus, Areflexia, Autosomal dominant inheritance, Babinski sign, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Hyporeflexia, Lower limb muscle weakness, Pes cavus, Skeletal muscle atrophy, Spastic gait, Spastic paraplegia, Variable expressivity
EN-PFC2	KIF3B	0.995915994	0	Motor protein	BrainSpLMD|9371;Eurexp|euxassay_013965|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, trigeminal V, vagus X, vomeronasal organ	OMIM|603754
EN-PFC2	CTNNBL1	0.991093627	0	Unclassified	BrainSpLMD|56259	OMIM|611537
EN-PFC2	RGS17	0.969457586	0	GTPase activating protein	BrainSpLMD|26575	OMIM|607191
EN-PFC2	SEMA3A	0.968950275	0	Ligand	BrainSpLMD|10371;BrainSpMouseDev|20109	OMIM|603961;HPO|10371|Abnormality of the voice, Anosmia, Anterior hypopituitarism, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Delayed puberty, Erectile abnormalities, Hypogonadotrophic hypogonadism, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Reduced bone mineral density
EN-PFC2	CXADR	0.962563434	0	Cell surface receptor	BrainSpLMD|1525;Eurexp|euxassay_012371|bladder, cochlea, cortex, endolymphatic duct, epidermis, epithelium, facial VII, glossopharyngeal IX, incisor, larynx, left lung, mantle layer, marginal layer, meninges, mesothelium, metanephros, midgut, molar, neural retina, olfactory, oral epithelium, pancreas, pharyngo-tympanic tube, primitive seminiferous tubules, rectum, right lung, stomach, trachea, trigeminal V, urogenital mesentery, utricle, vagus X, vestibulocochlear VIII, vibrissa	OMIM|602621
EN-PFC2	ASXL3	0.957932853	0	Unclassified		SFARI||Autism, 1 - High confidence;OMIM|615115;HPO|80816|Anteverted nares, Feeding difficulties, Highly arched eyebrow, Severe global developmental delay, Severe postnatal growth retardation
EN-PFC2	ANO4	0.956974702	0	Integral membrane protein	BrainSpLMD|121601;Eurexp|euxassay_010917|dorsal root ganglion, trigeminal V	OMIM|610111
EN-PFC2	ADAM19	0.953361869	0	Metallo protease	BrainSpLMD|8728;Eurexp|euxassay_002478|bladder, mantle layer;BrainSpMouseDev|11280	OMIM|603640
EN-PFC2	GRIK2	0.951768734	0	Extracellular ligand gated channel	BrainSpLMD|2898;Eurexp|euxassay_008383|cerebellum, cortex, diencephalon, footplate, hindgut, medulla oblongata, midbrain, midgut, pituitary, pons, spinal cord, stomach, telencephalon, tongue, trigeminal V;BrainSpMouseDev|14582	SFARI||Autism, 3 - Suggestive evidence;OMIM|138244;HPO|2898|Autosomal recessive inheritance, Global developmental delay, Infantile onset, Intellectual disability
EN-PFC2	ADD2	0.951542279	0	Anchor protein	BrainSpLMD|119;Eurexp|euxassay_000013|alar plate, basal plate, bladder, brain, cerebellum, cerebral cortex, diencephalon, dorsal root ganglion, facial VII, forebrain, ganglion, glossopharyngeal IX, gut, heart, lateral wall, left, liver, lobe, lung, mantle layer, marginal layer, neural retina, olfactory cortex, olfactory lobe, pons, retina, right, submandibular gland primordium, sulcus limitans, telencephalon, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	OMIM|102681
EN-PFC2	MEF2C	0.946806467	0	Transcription regulatory protein	BrainSpLMD|4208;Eurexp|euxassay_018172|axial skeleton, clavicle, diaphragm, dorsal grey horn, glossopharyngeal IX, incisor, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metatarsus, orbito-sphenoid, phalanx, rest of mesenchyme, rib, skeletal muscle, trigeminal V, vault of skull, vertebral axis muscle system, vibrissa;BrainSpMouseDev|17029	SFARI||Autism, 4 - Minimal evidence;OMIM|600662;HPO|4208|Anteverted nares, Autistic behavior, Autosomal dominant inheritance, Broad forehead, Delayed speech and language development, Depressed nasal bridge, Downturned corners of mouth, Generalized hypotonia, High forehead, Hypertelorism, Hypoplasia of the corpus callosum, Inability to walk, Intellectual disability, severe, Low-set ears, Motor delay, Muscular hypotonia, Poor eye contact, Seizures, Short chin, Short nose, Short philtrum, Sporadic, Stereotypy, Upslanted palpebral fissure, Ventriculomegaly
EN-PFC2	FLRT2	0.944514786	0	Adhesion molecule	BrainSpLMD|23768	OMIM|604807
EN-PFC2	LINC01102	0.943687185	0			
EN-PFC2	DPYSL2	0.943180117	0	Cytoskeletal associated protein	BrainSpLMD|1808	OMIM|602463
EN-PFC2	CACNA1E	0.941417737	0	Voltage gated channel	BrainSpLMD|777;Eurexp|euxassay_006436|dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|601013
EN-PFC2	ATAT1	0.938865223	0	Unclassified	BrainSpLMD|79969;Eurexp|euxassay_009892|brain, neural retina, spinal cord	OMIM|615556
EN-PFC2	GNG2	0.936708854	0	G protein	BrainSpLMD|54331;Eurexp|euxassay_003975|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606981
EN-PFC2	EPS8	0.934546123	0	Adapter molecule	BrainSpLMD|2059;Eurexp|euxassay_004434|adrenal gland, lung, mantle layer, marginal layer, mesenchyme, metanephros, midgut, nasal septum, pancreas, rectum, testis, thymus primordium, turbinate bones	SFARI||Autism, No category;OMIM|600206;HPO|2059|Autosomal recessive inheritance, Congenital onset, Profound hearing impairment
EN-PFC2	SLC41A2	0.934518564	0	Membrane transport protein	BrainSpLMD|84102	OMIM|610802
EN-PFC2	GRIA1	0.899392809	0	Extracellular ligand gated channel	BrainSpLMD|2890;Eurexp|euxassay_018233|mantle layer, neural retina, palatal shelf, saccule;BrainSpMouseDev|14575	SFARI||Autism, 2 - Strong candidate;OMIM|138248
EN-PFC2	TUBB4A	0.894960237	0	Cytoskeletal protein	BrainSpLMD|10382;Eurexp|euxassay_018005|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602662
EN-PFC2	TMEM108	0.881570711	0	Unclassified	BrainSpLMD|66000;Eurexp|euxassay_002435|choroid plexus, lateral recess, marginal layer	OMIM|617361
EN-PFC2	MCTP1	0.876350978	0	Calcium binding protein	BrainSpLMD|79772	OMIM|616296
EN-PFC2	MAP1B	0.874699509	0	Cytoskeletal associated protein	BrainSpLMD|4131;Eurexp|euxassay_009367|brain, facial VII, glossopharyngeal IX, olfactory, peripheral nervous system, retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|157129
EN-PFC2	EFR3B	0.872187105	0	Unclassified	BrainSpLMD|22979	OMIM|616797
EN-PFC2	HMGCS1	0.871996089	0	Enzyme: Synthase	BrainSpLMD|3157	OMIM|142940
EN-PFC2	VSTM2B	0.871259896	0		Eurexp|euxassay_002292|mantle layer, marginal layer, ventricular layer	
EN-PFC2	GPM6A	0.866082813	0	Integral membrane protein	BrainSpLMD|2823;Eurexp|euxassay_005521|brain, diaphragm, epithelium, lip, mesenchyme, mesothelium, neural retina, olfactory, pericardial cavity, spinal cord, stroma	OMIM|601275
EN-PFC2	ACAT2	0.857276561	0	Enzyme: Acyltransferase	BrainSpLMD|39;Eurexp|euxassay_010142|brain, cervical, cervico-thoracic, chondrocranium, dorsal root ganglion, facial VII, foregut-midgut junction, glomeruli, glossopharyngeal IX, head mesenchyme, hindgut, incisor, left lung, liver, lobe, marginal layer, mesenchyme, metanephros, midgut, neural retina, right lung, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|100678;HPO|39|Chorea, Generalized hypotonia, Global developmental delay, Increased serum lactate, Increased serum pyruvate, Sporadic
EN-PFC2	PGM2L1	0.852057312	0	Enzyme: Mutase	BrainSpLMD|283209;Eurexp|euxassay_012530|brain, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611610
EN-PFC2	CRMP1	0.847069215	0	Enzyme: Hydrolase	BrainSpLMD|1400;Eurexp|euxassay_006182|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, genital tubercle, glossopharyngeal IX, midgut, neural retina, rectum, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602462
EN-PFC2	D4S234E	0.846241356	0			
EN-PFC2	ACOT7	0.843173151	0	Enzyme: Hydrolase	BrainSpLMD|11332;Eurexp|euxassay_011287|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, molar, neural retina, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|602587
EN-PFC2	SOBP	0.842872627	0	Unclassified	BrainSpLMD|55084	OMIM|613667;HPO|55084|Autosomal recessive inheritance, Delayed speech and language development, Global developmental delay, Intellectual disability, severe, Open bite, Poor speech, Short attention span
EN-PFC2	PKIA	0.841172312	0	Enzyme regulator	BrainSpLMD|5569;Eurexp|euxassay_018045|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mesenchyme, neural retina, olfactory, spinal cord, stroma, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|606059
EN-PFC2	KIAA1467	0.832364514	0			
EN-PFC2	ANK3	0.827770716	0	Adapter molecule	BrainSpLMD|288;BrainSpMouseDev|11522	SFARI||Autism, No category;OMIM|600465;HPO|288|Aggressive behavior, Autosomal recessive inheritance, Bruxism, Generalized hypotonia, Hyperactivity, Intellectual disability, Intellectual disability, moderate, Spasticity
EN-PFC2	XKR4	0.825137302	0	Integral membrane protein		
EN-PFC2	EML1	0.821432363	0	Structural protein	BrainSpLMD|2009	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602033;HPO|2009|Agenesis of corpus callosum, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Intellectual disability, severe, Macrocephaly, Polymicrogyria, Seizures, Sleep disturbance, Spasticity
EN-PFC2	TMOD2	0.819403266	0	Cytoskeletal associated protein	BrainSpLMD|29767	OMIM|602928
EN-PFC2	NTRK3	0.819206341	0	Receptor tyrosine kinase	BrainSpLMD|4916;Eurexp|euxassay_017897|corpus striatum, dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|17980	SFARI||Autism, 4 - Minimal evidence;OMIM|191316;COSMIC||congenital fibrosarcoma, secretory breast
EN-PFC2	NAV3	0.805465122	0	Unclassified	BrainSpLMD|89795	OMIM|611629
EN-PFC2	B4GALT5	0.801390591	0	Enzyme: Galactosyltransferase	BrainSpLMD|9334;Eurexp|euxassay_010321|basal columns, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, larynx, mantle layer, olfactory, stomach, trigeminal V, vagus X, valve	OMIM|604016
EN-PFC2	MYT1L	0.797983177	0	Transcription factor	BrainSpLMD|23040;BrainSpMouseDev|17700	SFARI||Autism, 1 - High confidence;OMIM|613084;HPO|23040|Aggressive behavior, Autosomal dominant inheritance, Delayed speech and language development, Global developmental delay, Intellectual disability, Obesity
EN-PFC2	KIFAP3	0.797056366	0	Transport/cargo protein	BrainSpLMD|22920;Eurexp|euxassay_012381|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, mesenchyme, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601836
EN-PFC2	GLRX	0.795995484	0	Enzyme: Oxidoreductase	BrainSpLMD|2745	OMIM|600443
EN-PFC2	PIP4K2A	0.794602173	0	Lipid Kinase	BrainSpLMD|5305;Eurexp|euxassay_018594|basal plate, dorsal root ganglion, foregut-midgut junction, head mesenchyme, hindgut, incisor, lobe, loop, lumen, mantle layer, medullary stroma, mesenchyme, midgut, olfactory, rectum, stomach, testis, thymus primordium, ventral grey horn, vertebral axis muscle system, vomeronasal organ	OMIM|603140
EN-PFC2	FKBP1A	0.786221275	0	Enzyme: Isomerase	BrainSpLMD|2280;Eurexp|euxassay_003477|Meckel's cartilage, incisor, lip, mantle layer, molar, orbito-sphenoid, ventral grey horn, ventricular layer	OMIM|186945
EN-PFC2	MSMO1	0.782832405	0	Unclassified	BrainSpLMD|6307;Eurexp|euxassay_000744|Meckel's cartilage, adrenal gland, calyces, chondrocranium, dorsal root ganglion, facial VII, foregut-midgut junction, hindgut, incisor, inferior, lobe, mesenchyme, midgut, molar, olfactory, stomach, superior, testis, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|607545;HPO|6307|Arthralgia, Autosomal recessive inheritance, Blepharitis, Congenital cataract, Decreased circulating low-density lipoprotein levels, Delayed puberty, Delayed skeletal maturation, Failure to thrive, Global developmental delay, Hypocholesterolemia, Ichthyosis, Intellectual disability, mild, Microcephaly, Psoriasiform dermatitis, Short stature
EN-PFC2	RBFOX1	0.78237646	0		BrainSpLMD|54715;Eurexp|euxassay_013824|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, thoracic, trigeminal V	SFARI||Autism, 3 - Suggestive evidence;OMIM|605104
EN-PFC2	BEX5	0.779121264	0	Unclassified		OMIM|300693
EN-PFC2	UCHL1	0.774308004	0	Ubiquitin proteasome system protein	BrainSpLMD|7345;Eurexp|euxassay_007064|cervical, cervico-thoracic, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, hindgut, incisor, medulla, mesenchyme, midgut, neural retina, olfactory, skeletal muscle, stomach, testis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|191342;HPO|7345|Ankle clonus, Autosomal recessive inheritance, Babinski sign, Cerebellar atrophy, Cerebral atrophy, Dysmetria, Fasciculations, Flexion contracture, Head titubation, Myokymia, Myopia, Neurodegeneration, Nystagmus, Optic atrophy, Pes cavus, Pes planus, Progressive, Progressive visual loss, Spastic paraplegia, Tetraparesis
EN-PFC2	AMER2	0.772412267	0	Unclassified	BrainSpLMD|219287;Eurexp|euxassay_006362|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614659
EN-PFC2	KIAA1598	0.756076425	0			
EN-PFC2	CD24	0.755276652	0		BrainSpLMD|100133941;BrainSpMouseDev|12269	OMIM|600074
EN-PFC2	MLLT11	0.753242273	0	Unclassified	BrainSpLMD|10962;Eurexp|euxassay_010405|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|604684;COSMIC||ALL;HPO|10962|Autosomal dominant inheritance, Juvenile myelomonocytic leukemia, Somatic mutation
EN-PFC2	NHSL1	0.748755763	0	Unclassified		
EN-PFC2	TUBA1A	0.741881854	0	Cytoskeletal protein	BrainSpLMD|7846	OMIM|602529;HPO|7846|Agenesis of corpus callosum, Ataxia, Autosomal dominant inheritance, Cerebellar vermis hypoplasia, Generalized hypotonia, Heterotopia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, severe, Lissencephaly, Microcephaly, Motor delay, Pachygyria, Polymicrogyria, Seizures, Spastic tetraplegia, Ventriculomegaly
EN-PFC2	NBEA	0.740122686	0	Anchor protein	BrainSpLMD|26960	SFARI||Autism, 4 - Minimal evidence;OMIM|604889;COSMIC||large intestine carcinoma, multiple myeloma
EN-PFC2	CALM1	0.738716712	0	Calcium binding protein	BrainSpLMD|801	OMIM|114180;HPO|801|Autosomal dominant inheritance, Cardiac arrest, Prolonged QT interval, Sudden death, Syncope, Ventricular tachycardia, Vertigo
EN-PFC2	RAB3A	0.736739897	0	GTPase	BrainSpLMD|5864;BrainSpMouseDev|19102	OMIM|179490
EN-PFC2	SYT1	0.7362343	0	Calcium binding protein	BrainSpLMD|6857;Eurexp|euxassay_018026|adrenal gland, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, epithelium, external, facial VII, foregut-midgut junction, glossopharyngeal IX, hindbrain, hindgut, incisor, limb, mantle layer, marginal layer, mesenchyme, midbrain, midgut, neural retina, oesophagus, olfactory, oral epithelium, pectoralis major, pectoralis minor, pituitary, retina, spinal cord, stomach, stroma, thoracic, tongue, trigeminal V, ureter, urethra, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|20740	OMIM|185605
EN-PFC2	SLA	0.727722637	0	Adapter molecule	BrainSpLMD|6503	OMIM|601099
EN-PFC2	ACTR3B	0.7245426	0	Cytoskeletal associated protein	BrainSpLMD|57180;Eurexp|euxassay_004135|olfactory lobe, ventricular layer	
EN-PFC2	ZEB2	0.722832668	0	Transcription regulatory protein	BrainSpLMD|9839;Eurexp|euxassay_005774|bladder, dorsal grey horn, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, lung, mantle layer, metanephros, midgut, nasal septum, penis, pharyngo-tympanic tube, stomach;BrainSpMouseDev|23887	OMIM|605802;HPO|9839|Abdominal distention, Abnormality of metabolism/homeostasis, Abnormality of the abdominal wall, Abnormality of the rib cage, Absent speech, Atrial septal defect, Autosomal dominant inheritance, Broad eyebrow, Delayed eruption of teeth, Drooling, Generalized hypotonia, Happy demeanor, Hypoplasia of the corpus callosum, Intellectual disability, moderate, Motor delay, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pulmonary artery sling, Pulmonary artery stenosis, Pulmonic stenosis, Supernumerary nipple, Ventricular septal defect, Vomiting, Widely spaced teeth
EN-PFC2	YWHAZ	0.72089826	0	Adapter molecule	BrainSpLMD|7534	OMIM|601288
EN-PFC2	PBX1	0.718812523	0	Transcription regulatory protein	BrainSpLMD|5087;BrainSpMouseDev|18280	OMIM|176310;COSMIC||pre B-ALL, myoepithelioma
EN-PFC2	CAMKV	0.711085114	0	Unclassified	BrainSpLMD|79012;Eurexp|euxassay_007008|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, phalanx, spinal cord	OMIM|614993
EN-PFC2	RUNX1T1	0.69403011	0	Transcription regulatory protein	BrainSpLMD|862;Eurexp|euxassay_016597|dorsal grey horn, mantle layer;BrainSpMouseDev|12180	OMIM|133435;COSMIC||AML
EN-PFC2	NUDT3	0.687102817	0	Enzyme: Hydrolase	BrainSpLMD|11165	OMIM|609228
EN-PFC2	CDK5R1	0.670274969	0	Regulatory/other subunit	BrainSpLMD|8851;BrainSpMouseDev|12354	OMIM|603460
EN-PFC2	ZBTB38	0.667974768	0	Transcription regulatory protein		OMIM|612218
EN-PFC2	MSRA	0.659874125	0	Enzyme: Reductase	BrainSpLMD|4482	OMIM|601250
EN-PFC2	UBE2V2	0.656200954	0	Ubiquitin proteasome system protein	BrainSpLMD|7336;Eurexp|euxassay_007283|embryo	OMIM|603001
EN-PFC2	CAMK2N1	0.649299259	0	Unclassified	BrainSpLMD|55450	OMIM|614986
EN-PFC2	SRRM4	0.646261475	0	Unclassified	BrainSpLMD|84530	SFARI||Autism, 5 - Hypothesized but untested;OMIM|613103
EN-PFC2	NEUROD2	0.64441352	0	Transcription factor	BrainSpLMD|4761;Eurexp|euxassay_013855|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|17780	OMIM|601725
EN-PFC2	NEUROD6	0.644359516	0	Transcription factor	BrainSpLMD|63974;Eurexp|euxassay_017889|inner ear, mantle layer, olfactory, olfactory lobe;BrainSpMouseDev|11708	OMIM|611513
EN-PFC2	SCN3B	0.643112933	0	Voltage gated channel	BrainSpLMD|55800;Eurexp|euxassay_012281|cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, midgut, neural retina, olfactory, skeletal muscle, stomach, thoracic, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|608214;HPO|55800|Atrial flutter, Autosomal dominant inheritance, ST segment elevation
EN-PFC2	SRGAP1	0.638560505	0	GTPase activating protein	BrainSpLMD|57522	OMIM|606523
EN-PFC2	TBR1	0.616987516	0	Transcription factor	BrainSpLMD|10716;BrainSpMouseDev|21136	SFARI||Autism, 1 - High confidence;OMIM|604616;HPO|10716|Abnormality of oral frenula, Abnormality of the iris, Autistic behavior, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Cataract, Cleft palate, Coloboma, Downslanted palpebral fissures, Failure to thrive, Growth delay, Hand clenching, Hypertelorism, Intellectual disability, Long fingers, Low-set, posteriorly rotated ears, Microphthalmia, Neonatal hypotonia, Seizures, Severe global developmental delay, Short neck, Short philtrum, Small face, Small for gestational age, Toe syndactyly
EN-PFC2	SCD	0.61534167	0	Enzyme: Oxidoreductase	BrainSpLMD|6319;Eurexp|euxassay_012236|adrenal gland, axial skeleton, basal columns, cervico-thoracic, clavicle, dorsal root ganglion, ductus deferens, embryo, facial VII, glossopharyngeal IX, hindgut, incisor, larynx, lens, lobe, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, neural retina, nucleus pulposus, orbito-sphenoid, otic capsule, pancreas, petrous part, pharyngo-tympanic tube, pituitary, rectum, rib, skeletal muscle, stomach, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, turbinate, urethra, vagus X, vault of skull, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|604031
EN-PFC2	TUBB2A	0.605084758	0		BrainSpLMD|7280;Eurexp|euxassay_006726|embryo	OMIM|615101;HPO|7280|Autosomal dominant inheritance, Cortical dysplasia, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Seizures, Variable expressivity
EN-PFC2	AFF3	0.597814695	0	Transcription factor	BrainSpLMD|3899;BrainSpMouseDev|16536	OMIM|601464;COSMIC||ALL, T-ALL
EN-PFC2	PCLO	0.591689429	0	Cytoskeletal protein	BrainSpLMD|27445;Eurexp|euxassay_009714|brain, cervical, cervico-thoracic, olfactory, spinal cord, thoracic;BrainSpMouseDev|26621	OMIM|604918;HPO|27445|Autosomal recessive inheritance, Brachycephaly, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy, Congenital onset, Decreased body weight, Depressed nasal bridge, Downturned corners of mouth, Full cheeks, Global developmental delay, Hearing impairment, High palate, High, narrow palate, Hyperreflexia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Long palpebral fissure, Long philtrum, Low-set ears, Macrotia, Muscular hypotonia of the trunk, Neonatal hypotonia, Optic atrophy, Poor head control, Progressive, Progressive microcephaly, Proptosis, Seizures, Short stature, Spasticity
EN-PFC2	RTN1	0.583551069	0	Integral membrane protein	BrainSpLMD|6252;Eurexp|euxassay_003752|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, penis, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|600865
EN-PFC2	SLC38A1	0.583177661	0	Membrane transport protein	BrainSpLMD|81539;Eurexp|euxassay_019706|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, stomach, submandibular gland primordium, testis, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|608490
EN-PFC2	STMN1	0.561100831	0	Structural protein	BrainSpLMD|3925;Eurexp|euxassay_008627|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|151442
EN-PFC2	FAM117B	0.558874825	0	Unclassified	BrainSpLMD|150864	
EN-PFC2	FDFT1	0.557612807	0	Enzyme: Synthase	BrainSpLMD|2222;Eurexp|euxassay_005703|calyces, cerebral cortex, cervical, cervico-thoracic, cochlear component, dorsal root ganglion, epithelium, facial VII, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, inferior, inner ear, lens, loop, mantle layer, mesenteric artery, midgut, molar, nucleus pulposus, retina, skeleton, stomach, superior, tegmentum, thoracic, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|184420
EN-PFC2	POU3F2	0.554821437	0	Transcription factor	BrainSpLMD|5454;BrainSpMouseDev|18755	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600494
EN-PFC2	DPYSL3	0.550183164	0	Enzyme: Hydrolase	BrainSpLMD|1809;Eurexp|euxassay_010399|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, midbrain, midgut, neural retina, olfactory, stomach, telencephalon, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|601168
EN-PFC2	ZC2HC1A	0.543526553	0	Unclassified	BrainSpLMD|51101;Eurexp|euxassay_014698|cochlear component, diencephalon, dorsal root ganglion, facial VII, hindbrain, inferior, medulla oblongata, metencephalon, midbrain, olfactory, spinal cord, superior, telencephalon, trigeminal V, turbinate bones, vagus X, vestibular component	
EN-PFC2	RTN4	0.536895205	0	Integral membrane protein	BrainSpLMD|57142;Eurexp|euxassay_004344|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mesenchyme, neural retina, olfactory, stroma, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|604475
EN-PFC2	SPTAN1	0.525208099	0	Cytoskeletal protein;Structural protein	BrainSpLMD|6709;Eurexp|euxassay_012194|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lens, mantle layer, midgut, neural retina, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|182810;HPO|6709|Abnormality of skin morphology, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Developmental regression, Epileptic encephalopathy, Generalized hypotonia, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, profound, Intellectual disability, severe, Myoclonus, Progressive microcephaly, Seizures, Spastic tetraplegia, Variable expressivity
EN-PFC2	MLLT3	0.515970299	0	Unclassified	BrainSpLMD|4300;Eurexp|euxassay_008130|adrenal gland, brain, ear, epithelium, hindgut, incisor, inner ear, lobe, metatarsus, molar, penis, rectum, rib, spinal cord, submandibular gland primordium, vibrissa	OMIM|159558;COSMIC||ALL
EN-PFC2	TRIM2	0.505854767	0	Unclassified	BrainSpLMD|23321;Eurexp|euxassay_008433|anterior, bladder, brain, cervical, cervico-thoracic, epithelium, facial VII, glossopharyngeal IX, hindgut, larynx, left lung, lens, mesenchyme, mesentery, metanephros, midgut, naso-lacrimal duct, neural retina, olfactory, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thoracic, trachea, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|614141;HPO|23321|Areflexia, Autosomal recessive inheritance, Broad-based gait, Decreased muscle mass, Decreased number of peripheral myelinated nerve fibers, Generalized hypotonia, Knee flexion contracture, Muscle weakness, Peripheral axonal neuropathy, Pes cavus, Respiratory insufficiency, Talipes equinovarus, Tracheomalacia, Vocal cord paralysis
EN-PFC2	DAAM1	0.473474615	0	Unclassified	BrainSpLMD|23002;BrainSpMouseDev|84026	OMIM|606626
EN-PFC2	YWHAG	0.467014636	0	Adapter molecule	BrainSpLMD|7532	OMIM|605356
EN-PFC2	ANK2	0.465735836	0	Cytoskeletal associated protein	BrainSpLMD|287	SFARI||Autism, 1 - High confidence;OMIM|106410;HPO|287|Atrial fibrillation, Autosomal dominant inheritance, Heterogeneous, Prolonged QT interval, Sinus bradycardia, Sudden cardiac death, Syncope
EN-PFC2	RBFOX2	0.462403745	0	RNA binding protein	BrainSpLMD|23543	OMIM|612149
EN-PFC2	PDE4D	0.459846751	0	Enzyme: Phosphodiesterase	BrainSpLMD|5144	OMIM|600129;HPO|5144|Abnormal form of the vertebral bodies, Abnormality of female external genitalia, Abnormality of immune system physiology, Abnormality of the nail, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Anteverted nares, Autism, Autosomal dominant inheritance, Blue irides, Brachycephaly, Brachydactyly, Cerebral venous thrombosis, Cone-shaped epiphysis, Congenital craniofacial dysostosis, Congenital hypothyroidism, Congenital onset, Cryptorchidism, Delayed eruption of teeth, Delayed speech and language development, Depressed nasal bridge, Depressed nasal ridge, Diabetes mellitus, Elevated calcitonin, Elevated circulating parathyroid hormone level, Epiphyseal stippling, Fair hair, Global developmental delay, Growth hormone deficiency, Hearing impairment, Hyperactivity, Hyperphosphatemia, Hypertelorism, Hypocalcemia, Hypogonadism, Hypoplasia of the maxilla, Hypoplasia of the nasal bone, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic vertebral bodies, Hypospadias, Increased intracranial pressure, Intellectual disability, Intrauterine growth retardation, Malar flattening, Mandibular prognathia, Micromelia, Midface retrusion, Mild short stature, Narrow vertebral interpedicular distance, Obesity, Open mouth, Peripheral neuropathy, Pseudohypoparathyroidism, Red hair, Round face, Scoliosis, Short metacarpal, Short metatarsal, Short nose, Short phalanx of finger, Short stature, Short toe, Specific learning disability, Spinal canal stenosis, Wide nasal bridge
EN-PFC2	ARL6IP1	0.440305214	0	Membrane transport protein	BrainSpLMD|23204	OMIM|607669;HPO|23204|Absent Achilles reflex, Autosomal recessive inheritance, Difficulty walking, Hyperactive patellar reflex, Inability to walk, Scissor gait, Sensory neuropathy, Spastic paraplegia
EN-PFC2	RP11.120I21.3	0.42516198	0			
EN-PFC2	NME1	0.410522315	0	Enzyme: Phosphotransferase	BrainSpLMD|4830	OMIM|156490;HPO|4830|Abdominal pain, Abnormality of the thorax, Anemia, Ataxia, Autosomal dominant inheritance, Bone pain, Diarrhea, Elevated urinary dopamine, Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Failure to thrive, Fever, Ganglioneuroblastoma, Ganglioneuroma, Heterogeneous, Horner syndrome, Hypertension, Incomplete penetrance, Myoclonus, Neuroblastoma, Opsoclonus, Skin nodule, Spinal cord compression, Sporadic, Weight loss
EN-PFC2	GPIHBP1	0.396681261	0	Unclassified	BrainSpLMD|338328	OMIM|612757;HPO|338328|Acute pancreatitis, Autosomal recessive inheritance, Episodic abdominal pain, Eruptive xanthomas, Failure to thrive, Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Hyperlipoproteinemia, Hypertriglyceridemia, Increased circulating chylomicron levels, Lipemia retinalis, Recurrent pancreatitis, Splenomegaly
EN-PFC2	LRRC7	0.349688287	0	Cell junction protein	BrainSpLMD|57554;Eurexp|euxassay_009687|brain, spinal cord	SFARI||Autism, No category;OMIM|614453
EN-PFC2	NFIA	0.322585996	0	Transcription factor	BrainSpLMD|4774;BrainSpMouseDev|17794	SFARI||Autism, 4 - Minimal evidence;OMIM|600727;HPO|4774|Agenesis of corpus callosum, Anteverted nares, Arnold-Chiari type I malformation, Broad face, Broad forehead, Cognitive impairment, Cutis marmorata, Generalized hypotonia, Global developmental delay, Hydronephrosis, Hypoplasia of the corpus callosum, Inguinal hernia, Intellectual disability, Low-set ears, Macrocephaly, Narrow mouth, Phenotypic variability, Renal hypoplasia, Seizures, Short chin, Short nose, Sporadic, Syringomyelia, Thin upper lip vermilion, Ventriculomegaly, Vesicoureteral reflux
EN-PFC2	EIF4A2	0.314830337	0	Translation regulatory protein	BrainSpLMD|1974	OMIM|601102;COSMIC||NHL
EN-PFC2	DCX	0.296558239	0	Cytoskeletal associated protein	BrainSpLMD|1641;Eurexp|euxassay_018537|brain, capsule, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|12973	SFARI||Autism, No category;OMIM|300121;HPO|1641|Agenesis of corpus callosum, Ataxia, Death in infancy, Dysarthria, Feeding difficulties, Hypertonia, Incomplete penetrance, Infantile onset, Intellectual disability, Intellectual disability, severe, Lissencephaly, Micropenis, Motor delay, Muscular hypotonia, Muscular hypotonia of the trunk, Nystagmus, Pachygyria, Postnatal growth retardation, Seizures, X-linked inheritance
EN-PFC2	JPH4	0.288789052	0	Unclassified	BrainSpLMD|84502;Eurexp|euxassay_007469|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, mesenchyme, midbrain, rest of mesenchyme, spinal cord, telencephalon, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
EN-PFC2	NCAM1	0.273838377	0	Adhesion molecule	BrainSpLMD|4684;Eurexp|euxassay_014138|bladder, brain, cervical, cervico-thoracic, cortex, dermal component, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, pericardial cavity, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, ureter, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17734	OMIM|116930
EN-PFC2	YWHAE	0.261097632	0	Adapter molecule	BrainSpLMD|7531;Eurexp|euxassay_018722|embryo	SFARI||Autism, 4 - Minimal evidence;OMIM|605066;COSMIC||endometrial stromal sarcoma, Miller-Dieker lissencephaly syndrome;HPO|7531|Abnormality of the cardiovascular system, Abnormality of upper lip, Anteverted nares, Cerebral cortical atrophy, Downslanted palpebral fissures, EEG abnormality, Epicanthus, Frontal bossing, Global developmental delay, Growth delay, High forehead, Hypertelorism, Lissencephaly, Low-set ears, Muscular hypotonia, Narrow mouth, Polyhydramnios, Seizures, Short neck, Short nose, Wide nose
EN-PFC2	TCTN2	1.301265937	1.11E-16	Unclassified	BrainSpLMD|79867;Eurexp|euxassay_000837|4th ventricle, choroid plexus, lateral recess, turbinate bones, ventricular layer	OMIM|613846;HPO|79867|Abdominal distention, Absent speech, Anophthalmia, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Broad forehead, Cataract, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Cleft palate, Cleft upper lip, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Dysmetria, Encephalocele, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Hyperechogenic kidneys, Hypermetropia, Hyperreflexia, Hypertelorism, Infantile onset, Intellectual disability, Lobar holoprosencephaly, Long face, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Pachygyria, Polydactyly, Polymicrogyria, Postaxial foot polydactyly, Postaxial hand polydactyly, Sclerocornea, Short neck, Short nose, Sloping forehead, Spasticity, Talipes, Talipes equinovarus
EN-PFC2	EPB41L1	1.209013205	1.11E-16	Cytoskeletal associated protein	BrainSpLMD|2036;Eurexp|euxassay_016807|arm, cortex, cranium, dermis, glossopharyngeal IX, head mesenchyme, hindgut, incisor, left lung, leg, loop, lumen, mandible, mantle layer, marginal layer, maxilla, mesenchyme, midgut, phalanx, right lung, stomach, trachea, trigeminal V, ventral grey horn, vertebral axis muscle system	OMIM|602879;HPO|2036|Autosomal dominant inheritance
EN-PFC2	SV2A	1.130558111	1.11E-16	Integral membrane protein	BrainSpLMD|9900	OMIM|185860
EN-PFC2	KBTBD6	1.067206246	1.11E-16	Unclassified	BrainSpLMD|89890	OMIM|617738
EN-PFC2	FAT3	0.668636633	1.11E-16	Integral membrane protein	Eurexp|euxassay_015982|axial muscle, clavicle, cortex, diaphragm, dorsal root ganglion, exoccipital bone, facial VII, femur, lip, mandible, mantle layer, maxilla, mesenchyme, metatarsus, orbito-sphenoid, pelvic girdle, phalanx, rib, saccule, skeletal muscle, sternum, thymus primordium, trigeminal V, urethra, vault of skull, ventricular layer, vibrissa;BrainSpMouseDev|92930	OMIM|612483;COSMIC||SCC, colon adenocarcinoma, gastric adenocarcinoma
EN-PFC2	HDGFRP3	0.612735996	1.11E-16			
EN-PFC2	PRKY	1.416193032	2.22E-16	Serine/threonine kinase	BrainSpLMD|5616	OMIM|400008
EN-PFC2	NDRG1	1.283869353	2.22E-16	Unclassified	BrainSpLMD|10397;Eurexp|euxassay_004423|anterior, dorsal root ganglion, external, mandible, marginal layer, meninges, mesenchyme, midgut, naris, nasal septum, olfactory, palatal shelf, pyloric region, rectum, upper jaw	OMIM|605262;COSMIC||prostate;HPO|10397|Abnormal auditory evoked potentials, Abnormality of the hand, Abnormality of visual evoked potentials, Areflexia, Autosomal recessive inheritance, Axonal loss, Decreased nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Gait disturbance, Hearing impairment, Hyporeflexia, Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material, Juvenile onset, Onion bulb formation, Segmental peripheral demyelination/remyelination, Talipes cavus equinovarus
EN-PFC2	MVD	0.937948732	2.22E-16	Enzyme: Decarboxylase	BrainSpLMD|4597	OMIM|603236;HPO|4597|Autosomal dominant inheritance, Cutaneous photosensitivity, Porokeratosis
EN-PFC2	BACH2	0.763849692	3.33E-16	Transcription factor	BrainSpLMD|60468;Eurexp|euxassay_002436|dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vibrissa;BrainSpMouseDev|11800	OMIM|605394
EN-PFC2	SCN3A	0.761035676	3.33E-16	Voltage gated channel	BrainSpLMD|6328	OMIM|182391
EN-PFC2	CD24P4	0.531200395	3.33E-16			
EN-PFC2	GPI	0.521510189	3.33E-16	Enzyme: Isomerase	BrainSpLMD|2821	OMIM|172400;HPO|2821|Ataxia, Autosomal recessive inheritance, Cholecystitis, Decreased glucosephosphate isomerase activity, Impaired neutrophil bactericidal activity, Intellectual disability, Jaundice, Muscle weakness, Nonspherocytic hemolytic anemia, Pigment gallstones, Sensory ataxia, Splenomegaly, Spontaneous hemolytic crises
EN-PFC2	ARPC5	0.473495795	3.33E-16	Cytoskeletal associated protein	BrainSpLMD|10092;Eurexp|euxassay_005699|embryo	OMIM|604227
EN-PFC2	NAV1	0.353727298	3.33E-16	Unclassified	BrainSpLMD|89796;Eurexp|euxassay_015115|Meckel's cartilage, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, inferior, mantle layer, midbrain, molar, neural retina, olfactory, respiratory, spinal cord, stroma, superior, thoracic, trigeminal V, turbinate bones, vagus X, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|611628
EN-PFC2	CPE	0.425869752	4.44E-16	Carboxypeptidase	BrainSpLMD|1363	OMIM|114855
EN-PFC2	NFIX	0.475311763	5.55E-16	Transcription factor	BrainSpLMD|4784;BrainSpMouseDev|17799	SFARI||Autism, No category;OMIM|164005;HPO|4784|Accelerated skeletal maturation, Advanced eruption of teeth, Agenesis of corpus callosum, Anteverted nares, Anxiety, Astigmatism, Atlantoaxial dislocation, Atrial septal defect, Autosomal dominant inheritance, Blue sclerae, Bullet-shaped middle phalanges of the hand, Cerebral atrophy, Choanal atresia, Choanal stenosis, Coxa valga, Cutis marmorata, Death in childhood, Decreased body weight, Delayed speech and language development, Depressed nasal bridge, Distal widening of metacarpals, Downslanted palpebral fissures, Eclabion, Everted lower lip vermilion, Failure to thrive, Frontal bossing, Generalized hypotonia, Gingival overgrowth, Glossoptosis, Hearing impairment, High forehead, Hypermetropia, Hypoplasia of the odontoid process, Intellectual disability, Irregular dentition, Large sternal ossification centers, Laryngomalacia, Long face, Long fingers, Low-set ears, Macrocephaly, Macrogyria, Malar flattening, Mandibular prognathia, Midface retrusion, Motor delay, Narrow face, Narrow mouth, Nystagmus, Obstructive sleep apnea, Omphalocele, Overfolded helix, Overgrowth, Patent ductus arteriosus, Pectus excavatum, Prominence of the premaxilla, Prominent forehead, Pulmonary arterial hypertension, Recurrent aspiration pneumonia, Retrognathia, Scoliosis, Shallow orbits, Short distal phalanx of finger, Short mandibular rami, Short nose, Short philtrum, Short sternum, Slender long bone, Sporadic, Strabismus, Synophrys, Tall stature, Thick eyebrow, Umbilical hernia, Ventriculomegaly
EN-PFC2	APLP1	0.374038706	5.55E-16	Transcription regulatory protein;Unclassified	BrainSpLMD|333;Eurexp|euxassay_005371|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, male, nasal septum, neural retina, olfactory, respiratory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|11590	OMIM|104775
EN-PFC2	KLHL29	1.407298929	6.66E-16	Unclassified	BrainSpLMD|114818;Eurexp|euxassay_011122|mantle layer, marginal layer, trigeminal V;BrainSpMouseDev|83975	
EN-PFC2	ST8SIA2	0.823963211	6.66E-16	Enzyme: Sialyltransferase	BrainSpLMD|8128	SFARI||Autism, No category;OMIM|602546
EN-PFC2	CFL1	0.300053921	6.66E-16	Cytoskeletal associated protein	BrainSpLMD|1072	OMIM|601442
EN-PFC2	SCAMP1	0.795497196	7.77E-16	Membrane transport protein	BrainSpLMD|9522	OMIM|606911
EN-PFC2	CNTN1	1.036027472	8.88E-16	Adhesion molecule	BrainSpLMD|1272;Eurexp|euxassay_006852|4th ventricle, calyces, choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, marginal layer, maxilla, neural retina, olfactory, pelvis, pituitary, trigeminal V, ureter, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|12588	OMIM|600016;HPO|1272|Akinesia, Arachnodactyly, Areflexia, Autosomal recessive inheritance, Camptodactyly, Death in infancy, Fetal akinesia sequence, High, narrow palate, Hypertelorism, Joint contracture of the hand, Neonatal hypotonia, Oval face, Overlapping fingers, Polyhydramnios, Poor suck, Respiratory insufficiency due to muscle weakness, Scaphocephaly, Small for gestational age
EN-PFC2	MAPRE2	0.640382712	8.88E-16	Cytoskeletal associated protein	BrainSpLMD|10982;Eurexp|euxassay_007836|cervical, cervico-thoracic, dorsal root ganglion, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|605789;HPO|10982|Autosomal dominant inheritance, Broad neck, Carious teeth, Cleft palate, Cryptorchidism, Delayed speech and language development, Downslanted palpebral fissures, Edema, Epicanthus, Flat face, Generalized hypotonia, Hypoplasia of the corpus callosum, Hypospadias, Increased number of skin folds, Irregular hyperpigmentation, Low-set ears, Microcornea, Micrognathia, Microphthalmia, Microtia, Motor delay, Narrow mouth, Posteriorly rotated ears, Scrotal hypoplasia, Seizures, Short neck, Short palpebral fissure, Thickened skin, Upslanted palpebral fissure
EN-PFC2	ELOVL6	0.666560671	9.99E-16	Unclassified	BrainSpLMD|79071;Eurexp|euxassay_007796|embryo	OMIM|611546
EN-PFC2	LRRTM2	0.664410933	9.99E-16	Integral membrane protein	BrainSpLMD|26045	OMIM|610868
EN-PFC2	EBP	0.662411083	9.99E-16	Enzyme: Isomerase	BrainSpLMD|10682;Eurexp|euxassay_010690|lobe, mandible, maxilla, orbito-sphenoid	OMIM|300205;HPO|10682|2-3 toe syndactyly, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the pinna, Abnormality of the thorax, Alopecia, Aortic valve stenosis, Bilateral talipes equinovarus, Cataract, Concave nasal ridge, Congenital ichthyosiform erythroderma, Congenital onset, Cryptorchidism, Dandy-Walker malformation, Downslanted palpebral fissures, Edema, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol, Epicanthus, Epiphyseal stippling, Erythema, Erythroderma, Failure to thrive, Flat face, Frontal bossing, Generalized hypotonia, Glaucoma, Global developmental delay, Hearing impairment, Hemiatrophy, Hemivertebrae, High palate, Hydrocephalus, Hydronephrosis, Hyperactivity, Ichthyosis, Intellectual disability, Intellectual disability, moderate, Joint dislocation, Kyphosis, Long fingers, Low-set ears, Malar flattening, Microphthalmia, Microretrognathia, Midface retrusion, Nystagmus, Optic atrophy, Overlapping fingers, Overlapping toe, Patellar dislocation, Phenotypic variability, Polydactyly, Polyhydramnios, Postnatal growth retardation, Prominent nasal bridge, Ptosis, Punctate vertebral calcifications, Scarring alopecia of scalp, Scoliosis, Seizures, Short neck, Short stature, Sparse and thin eyebrow, Sparse eyelashes, Stippled calcification in carpal bones, Tarsal stippling, Tracheal calcification, Tracheal stenosis, Variable expressivity, X-linked dominant inheritance, X-linked recessive inheritance
EN-PFC2	NOL4L	0.608515221	1.11E-15	Unclassified	BrainSpLMD|140688;Eurexp|euxassay_006045|ear, olfactory	
EN-PFC2	KIDINS220	0.339827189	1.22E-15	Integral membrane protein	Eurexp|euxassay_009418|brain, cervical, cervico-thoracic, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|615759;HPO|57498|Astigmatism, Autosomal dominant inheritance, Cerebral atrophy, Deeply set eye, Delayed myelination, Delayed speech and language development, Dilation of lateral ventricles, Esotropia, Full cheeks, Global developmental delay, Hypermetropia, Hyperreflexia, Infantile onset, Intellectual disability, Limb hypertonia, Muscular hypotonia of the trunk, Nystagmus, Prominent forehead, Reduced visual acuity, Spastic paraplegia
EN-PFC2	PLXNA4	0.631532224	1.67E-15	Unclassified	BrainSpLMD|91584;Eurexp|euxassay_009720|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X;BrainSpMouseDev|89119	SFARI||Autism, 3 - Suggestive evidence;OMIM|604280
EN-PFC2	B3GAT1	0.873746049	1.89E-15	Integral membrane protein	BrainSpLMD|27087;Eurexp|euxassay_012950|mantle layer	OMIM|151290
EN-PFC2	GRM7	1.309773268	2.11E-15	G protein coupled receptor	BrainSpLMD|2917	SFARI||Autism, 4 - Minimal evidence;OMIM|604101
EN-PFC2	INA	0.553083588	2.11E-15	Cytoskeletal protein	BrainSpLMD|9118;Eurexp|euxassay_012424|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|605338
EN-PFC2	VLDLR	1.265552812	2.22E-15	Cell surface receptor	BrainSpLMD|7436;Eurexp|euxassay_018469|clavicle, cortex, ductus deferens, incisor, mandible, mantle layer, marginal layer, maxilla, neural retina, olfactory, orbito-sphenoid, rib, ureter, ventral grey horn, ventricular layer, vomeronasal organ, wall	SFARI||Autism, 5 - Hypothesized but untested;OMIM|192977;HPO|7436|Abnormality of metabolism/homeostasis, Ataxia, Autosomal recessive inheritance, Broad-based gait, Cataract, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral palsy, Congenital onset, Cortical gyral simplification, Delayed speech and language development, Dysarthria, Dysdiadochokinesis, Dysmetria, Gait ataxia, Gait disturbance, Gaze-evoked nystagmus, Generalized hypotonia, Global developmental delay, Hyperreflexia, Hypoplasia of the brainstem, Intellectual disability, Intention tremor, Muscular hypotonia, Nonprogressive, Pachygyria, Pes planus, Poor speech, Seizures, Short stature, Skeletal muscle atrophy, Strabismus, Truncal ataxia
EN-PFC2	RAB33A	0.636521806	2.22E-15	GTPase	BrainSpLMD|9363	OMIM|300333
EN-PFC2	CELF2	0.545680752	2.33E-15	RNA binding protein	BrainSpLMD|10659;Eurexp|euxassay_015501|brain, spinal cord	OMIM|602538
EN-PFC2	ICA1L	0.298758187	2.33E-15	Unclassified	BrainSpLMD|130026	
EN-PFC2	TSPAN14	0.694349077	2.44E-15	Integral membrane protein	BrainSpLMD|81619;Eurexp|euxassay_007132|embryo	
EN-PFC2	NCOA1	0.621594067	2.44E-15	Enzyme: Transferase	BrainSpLMD|8648;Eurexp|euxassay_005512|diaphragm, dorsal grey horn, olfactory, vertebral axis muscle system;BrainSpMouseDev|17744	OMIM|602691;COSMIC||alveolar rhabdomyosarcoma
EN-PFC2	NECAB1	0.992812832	2.66E-15	Calcium binding protein	BrainSpLMD|64168;Eurexp|euxassay_005971|embryo	
EN-PFC2	KIF3A	0.526558831	2.66E-15	Motor protein	BrainSpLMD|11127	OMIM|604683
EN-PFC2	SHISA9	1.273940942	2.89E-15	Unclassified		OMIM|613346
EN-PFC2	3-Sep	0.69021165	2.89E-15			
EN-PFC2	ZNF91	0.363012166	3.22E-15	Transcription regulatory protein	BrainSpLMD|7644	OMIM|603971
EN-PFC2	SEZ6L2	1.016949913	3.44E-15	Integral membrane protein	BrainSpLMD|26470;Eurexp|euxassay_006780|adenohypophysis, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, medulla, midgut, neural retina, olfactory, skeletal muscle, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|616667
EN-PFC2	DRAXIN	0.616436656	3.44E-15	Unclassified	BrainSpLMD|374946;Eurexp|euxassay_006367|cerebral cortex, dorsal root ganglion, glossopharyngeal IX, lateral wall, mantle layer, marginal layer, meninges, neural retina, pons, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|46274	OMIM|612682
EN-PFC2	ATP5A1	0.438245028	3.55E-15			
EN-PFC2	ACVR2A	0.500003339	3.66E-15	Receptor serine/threonine kinase	BrainSpLMD|92;BrainSpMouseDev|11268	OMIM|102581;COSMIC||large intestine carcinoma, stomach carcinoma, pancreatic carcinoma, biliary tract, oesophagus
EN-PFC2	SPTBN1	0.453356595	4.22E-15	Cytoskeletal protein	BrainSpLMD|6711	OMIM|182790
EN-PFC2	CACNA1A	0.617092954	4.33E-15	Voltage gated channel	BrainSpLMD|773;Eurexp|euxassay_006343|brain, central nervous system, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|12071	SFARI||Autism, No category;OMIM|601011;HPO|773|Abnormal vestibulo-ocular reflex, Abnormality of movement, Agitation, Anxiety, Ataxia, Athetosis, Auditory hallucinations, Autosomal dominant inheritance, Cerebellar atrophy, Cerebellar vermis atrophy, Coma, Confusion, Diplopia, Downbeat nystagmus, Drowsiness, Dysarthria, Dyscalculia, Dysphagia, Dysphasia, Dystonia, EEG abnormality, Epileptic encephalopathy, Episodic ataxia, Esotropia, Fever, Flexion contracture, Gaze-evoked nystagmus, Generalized hypotonia, Genetic anticipation, Global developmental delay, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Heterogeneous, Hyperreflexia, Hypertonia, Impaired smooth pursuit, Incomplete penetrance, Migraine, Migraine with aura, Muscle weakness, Myotonia, Nystagmus, Paresthesia, Progressive, Progressive cerebellar ataxia, Psychosis, Saccadic smooth pursuit, Seizures, Sensory neuropathy, Tinnitus, Transient unilateral blurring of vision, Tremor, Vertigo, Vestibular dysfunction, Visual hallucinations
EN-PFC2	GPR85	0.843513371	5.11E-15	G protein coupled receptor	BrainSpLMD|54329;Eurexp|euxassay_005306|axial skeleton, brain, glossopharyngeal IX, neural retina, skeletal muscle, spinal cord, stroma, trachea, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|605188
EN-PFC2	HMGCR	0.540090741	5.33E-15	Enzyme: Reductase	BrainSpLMD|3156;Eurexp|euxassay_004330|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nucleus pulposus, spinal cord, thoracic, trigeminal V, vagus X	OMIM|142910
EN-PFC2	PEBP1	0.652234336	5.66E-15	Protease inhibitor	BrainSpLMD|5037	OMIM|604591
EN-PFC2	PPP2R1A	0.332793072	6.11E-15	Serine/threonine phosphatase	BrainSpLMD|5518;Eurexp|euxassay_002761|dorsal root ganglion, facial VII, glossopharyngeal IX, inferior, nucleus pulposus, superior, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII	OMIM|605983;COSMIC||clear cell ovarian carcinoma;HPO|5518|Abnormal hair whorl, Anteverted nares, Autosomal dominant inheritance, Broad hallux, Congenital visual impairment, Delayed gross motor development, Delayed myelination, Deviation of the 5th finger, Downslanted palpebral fissures, Facial asymmetry, Facial hypotonia, Generalized hypotonia, Global developmental delay, Hydrocephalus, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Joint hypermobility, Open mouth, Pectus excavatum, Plagiocephaly, Prominent metopic ridge, Seizures, Tented upper lip vermilion, Ventriculomegaly
EN-PFC2	ARPC2	0.272024217	6.77E-15	Cytoskeletal associated protein	BrainSpLMD|10109	OMIM|604224
EN-PFC2	ETNK1	0.28299448	7.55E-15	Enzyme: Phosphotransferase	BrainSpLMD|55500;Eurexp|euxassay_008092|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, thymus primordium, trigeminal V	OMIM|609858;COSMIC||aCML, CMML, SM-AHD, HES
EN-PFC2	SCD5	0.592212485	8.22E-15	Enzyme: Oxidoreductase	BrainSpLMD|79966	OMIM|608370
EN-PFC2	B3GALT1	0.567603995	8.44E-15	Enzyme: Galactosyltransferase	BrainSpLMD|8708	OMIM|603093
EN-PFC2	AKAP7	0.909534345	9.10E-15	Anchor protein	BrainSpLMD|9465	OMIM|604693
EN-PFC2	DNAJC6	1.070927089	9.33E-15	Chaperone	BrainSpLMD|9829;Eurexp|euxassay_006348|cervical, cervico-thoracic, dorsal root ganglion, epithelium, facial VII, genital tubercle, glossopharyngeal IX, mantle layer, marginal layer, midgut, neural retina, olfactory, stomach, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608375;HPO|9829|Abnormal pyramidal signs, Akinesia, Autosomal recessive inheritance, Bradykinesia, Brain atrophy, Cognitive impairment, Dysarthria, Dystonia, Fatigue, Gait ataxia, Hallucinations, Hypomimic face, Hyporeflexia, Inability to walk, Intellectual disability, Leg muscle stiffness, Parkinsonism, Pes cavus, Postural instability, Rapidly progressive, Resting tremor, Rigidity, Scoliosis, Seizures, Short stepped shuffling gait, Shuffling gait, Slow progression, Slowed slurred speech, Spasticity, Tremor, Weak voice
EN-PFC2	SSBP3	0.629551431	9.88E-15	DNA binding protein	BrainSpLMD|23648	OMIM|607390
EN-PFC2	LINC00599	0.289894719	1.01E-14			
EN-PFC2	SBK1	0.614524693	1.14E-14	Serine/threonine kinase		
EN-PFC2	SEC11C	0.506136302	1.14E-14	Aminopeptidase	BrainSpLMD|90701;Eurexp|euxassay_003588|clavicle, olfactory, orbito-sphenoid, submandibular gland primordium, thymus primordium, trachea	
EN-PFC2	SYBU	1.218622499	1.18E-14		BrainSpLMD|55638;Eurexp|euxassay_006982|corpus striatum, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mandible, mantle layer, marginal layer, maxilla, midbrain, nasal cavity, olfactory cortex, pancreas, retina, spinal cord, stomach, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611568
EN-PFC2	DPYSL5	0.447385309	1.27E-14	Unclassified	BrainSpLMD|56896;BrainSpMouseDev|41755	OMIM|608383
EN-PFC2	KIAA1244	1.1359661	1.37E-14			
EN-PFC2	ABCA1	0.479140878	1.48E-14	Transport/cargo protein	BrainSpLMD|19;Eurexp|euxassay_009354|brain, spinal cord, ventricular layer	OMIM|600046;HPO|19|Abdominal pain, Abnormality of the liver, Accelerated atherosclerosis, Anemia, Autosomal dominant inheritance, Autosomal recessive inheritance, Blurred vision, Chronic noninfectious lymphadenopathy, Corneal opacity, Coronary artery stenosis, Decreased circulating high-density lipoprotein levels, Distal amyotrophy, Distal muscle weakness, Dry skin, EMG abnormality, Ectropion, Facial diplegia, Hemiplegia/hemiparesis, Hepatomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Hyporeflexia, Impaired pain sensation, Impaired temperature sensation, Left ventricular hypertrophy, Lymphadenopathy, Myocardial infarction, Nail dysplasia, Nail dystrophy, Opacification of the corneal stroma, Orange discoloured tonsils, Peripheral axonal neuropathy, Peripheral demyelination, Progressive peripheral neuropathy, Splenomegaly, Visual impairment, Xanthomatosis
EN-PFC2	SLC44A5	0.859524203	1.64E-14	Transport/cargo protein	BrainSpLMD|204962;Eurexp|euxassay_019725|floor plate, floorplate, glossopharyngeal IX, lip, mantle layer, marginal layer, trachea, ventral grey horn, ventricular layer	
EN-PFC2	LONRF2	0.510801497	1.81E-14	DNA binding protein	BrainSpLMD|164832;Eurexp|euxassay_010821|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V	
EN-PFC2	RNF150	1.208510372	2.35E-14	Ubiquitin proteasome system protein	Eurexp|euxassay_014053|dorsal grey horn, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn, vestibulocochlear VIII	
EN-PFC2	SLC1A1	1.012341469	2.53E-14	Transport/cargo protein	BrainSpLMD|6505;Eurexp|euxassay_010393|brain, marginal layer, spinal cord;BrainSpMouseDev|20272	SFARI||Autism, 4 - Minimal evidence;OMIM|133550
EN-PFC2	ANKRD32	0.990416521	2.61E-14			
EN-PFC2	BLCAP	0.619993025	2.66E-14	Integral membrane protein	BrainSpLMD|10904;Eurexp|euxassay_005827|brain, spinal cord	OMIM|613110
EN-PFC2	CSRNP3	0.729025542	2.74E-14	Unclassified	BrainSpLMD|80034;Eurexp|euxassay_009789|brain, mantle layer, spinal cord, trigeminal V, ventricular layer	
EN-PFC2	FAM213A	0.629093439	2.78E-14	Unclassified	BrainSpLMD|84293;Eurexp|euxassay_008864|bladder, brain, calyces, cervical, cervico-thoracic, cochlea, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, incisor, left lung, liver, lung, midgut, molar, naris, nasal cavity, naso-lacrimal duct, olfactory, pelvis, pharyngo-tympanic tube, rectum, retina, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thoracic, trigeminal V, ureter, utricle, vagus X, vestibulocochlear VIII, vibrissa	OMIM|617165
EN-PFC2	SEPW1	0.401740448	3.34E-14			
EN-PFC2	BEX2	0.553416751	3.51E-14	Unclassified	BrainSpLMD|84707;Eurexp|euxassay_006276|bladder, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, lumen, mesenchyme, skeletal muscle, thoracic, trigeminal V, vertebral axis muscle system	OMIM|300691
EN-PFC2	AUTS2	0.2897889	3.51E-14	Unclassified	BrainSpLMD|26053	SFARI||Autism, 3 - Suggestive evidence;OMIM|607270;HPO|26053|Abnormal facial shape, Arthrogryposis multiplex congenita, Autism, Autosomal dominant inheritance, Brachycephaly, Cerebral palsy, Decreased palmar creases, Delayed speech and language development, Downslanted palpebral fissures, Feeding difficulties, Global developmental delay, Highly arched eyebrow, Hypertelorism, Intellectual disability, Kyphosis, Low-set ears, Microcephaly, Narrow mouth, Prominent nasal tip, Ptosis, Scoliosis, Short palpebral fissure, Short philtrum, Short stature, Small for gestational age, Strabismus, Thick eyebrow, Wide nasal base
EN-PFC2	APOO	0.694340449	3.52E-14	Unclassified	BrainSpLMD|79135;Eurexp|euxassay_008790|left, right	OMIM|300753
EN-PFC2	HOMER1	0.895427841	4.33E-14	Adapter molecule	BrainSpLMD|9456;BrainSpMouseDev|26303	SFARI||Autism, 4 - Minimal evidence;OMIM|604798
EN-PFC2	SRPK2	0.781381067	4.37E-14	Serine/threonine kinase	BrainSpLMD|6733;Eurexp|euxassay_018943|brain, glossopharyngeal IX, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20579	OMIM|602980
EN-PFC2	NMNAT2	0.672158141	4.40E-14	Unclassified;Enzyme: Transferase	BrainSpLMD|23057;Eurexp|euxassay_007621|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, medulla oblongata, metencephalon, midbrain, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608701
EN-PFC2	RAB9B	0.992805849	5.17E-14	GTPase	BrainSpLMD|51209	OMIM|300285
EN-PFC2	PRSS23	1.55969381	5.42E-14	Serine protease	BrainSpLMD|11098;Eurexp|euxassay_007251|axial skeleton, incisor, metanephros, physiological umbilical hernia, turbinate bones	
EN-PFC2	FKBP1C	0.725144056	5.42E-14			
EN-PFC2	LPPR1	0.443372482	5.81E-14			
EN-PFC2	KIF5A	0.255374147	6.34E-14	Motor protein	BrainSpLMD|3798;Eurexp|euxassay_018169|Meckel's cartilage, axial skeleton, basioccipital bone, brain, cervical, cervico-thoracic, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, olfactory, orbito-sphenoid, pelvic girdle, radius, rib, scapula, spinal cord, temporal bone, thoracic, tibia, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|602821;HPO|3798|Ankle clonus, Athetosis, Autosomal dominant inheritance, Babinski sign, Chorea, Congenital onset, Cortical visual impairment, Delayed myelination, Developmental stagnation, Distal sensory impairment, Dysphagia, Feeding difficulties, Generalized hypotonia, Hyperreflexia, Impaired vibration sensation in the lower limbs, Knee clonus, Lower limb muscle weakness, Microcephaly, Nystagmus, Pes cavus, Phenotypic variability, Progressive, Progressive leukoencephalopathy, Ptosis, Scoliosis, Spastic gait, Spastic paraplegia, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
EN-PFC2	MEIS2	0.472860442	6.82E-14	Transcription factor	BrainSpLMD|4212;BrainSpMouseDev|17303	OMIM|601740;HPO|4212|2-3 toe syndactyly, Atrial septal defect, Autistic behavior, Autosomal dominant inheritance, Biparietal narrowing, Broad hallux, Broad thumb, Cleft palate, Cleft upper lip, Coarctation of aorta, Deeply set eye, Delayed speech and language development, Gastroesophageal reflux, Global developmental delay, High anterior hairline, Highly arched eyebrow, Intellectual disability, Large forehead, Microcephaly, Narrow forehead, Pointed chin, Sandal gap, Short 2nd finger, Short 5th finger, Short philtrum, Short stature, Smooth philtrum, Sparse eyebrow, Tented upper lip vermilion, Upslanted palpebral fissure, Ventricular septal defect
EN-PFC2	NEO1	0.648332286	7.54E-14	Cell surface receptor	BrainSpLMD|4756;Eurexp|euxassay_018461|axial skeleton, diaphragm, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lung, mandible, mantle layer, marginal layer, maxilla, nasal septum, pericardial cavity, turbinate bones, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|17774	SFARI||Autism, 4 - Minimal evidence;OMIM|601907
EN-PFC2	ACACA	0.833555723	8.50E-14	Enzyme: Carboxylase	BrainSpLMD|31;Eurexp|euxassay_018925|axial muscle, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mantle layer, midgut, neural retina, oesophagus, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|200350;HPO|31|Autosomal recessive inheritance, Generalized hypotonia, Growth delay, Myopathy
EN-PFC2	SNCA	1.010640205	9.41E-14	Chaperone	BrainSpLMD|6622;BrainSpMouseDev|20379	OMIM|163890;HPO|6622|Autosomal dominant inheritance, Bradykinesia, Delusions, Dementia, Depressivity, Dysarthria, Dysautonomia, Dysphagia, Dystonia, Fluctuations in consciousness, Hallucinations, Hypokinesia, Insidious onset, Lewy bodies, Mental deterioration, Middle age onset, Myoclonus, Orthostatic hypotension, Paranoia, Parkinsonism, Postural instability, Progressive, Rapidly progressive, Resting tremor, Rigidity, Shuffling gait, Sleep disturbance, Urinary urgency, Visual hallucinations, Weight loss
EN-PFC2	TUBBP1	0.318496324	1.12E-13			
EN-PFC2	MIR137HG	1.266641443	1.12E-13		BrainSpLMD|400765	
EN-PFC2	EEF1B2	0.280665641	1.12E-13	Translation regulatory protein	BrainSpLMD|1933	OMIM|600655
EN-PFC2	NDRG4	0.562642403	1.13E-13	Enzyme: Hydrolase;Cell cycle control protein	BrainSpLMD|65009;Eurexp|euxassay_015917|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mantle layer, neural retina, trigeminal V, ventral grey horn, vestibulocochlear VIII	OMIM|614463
EN-PFC2	RNF157	0.950416062	1.36E-13	Ubiquitin proteasome system protein		
EN-PFC2	NFASC	0.491318449	1.45E-13	Adhesion molecule	BrainSpLMD|23114;Eurexp|euxassay_009740|brain, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|92672	OMIM|609145
EN-PFC2	WASF1	0.484946764	1.48E-13	Adapter molecule	BrainSpLMD|8936;Eurexp|euxassay_004192|brain, dorsal root ganglion, glossopharyngeal IX, incisor, molar, spinal cord, trigeminal V, vagus X	OMIM|605035
EN-PFC2	PCDH11Y	2.410383945	1.54E-13	Adhesion molecule	BrainSpLMD|83259	OMIM|400022
EN-PFC2	DPP6	0.662353674	1.56E-13	Membrane transport protein	BrainSpLMD|1804;Eurexp|euxassay_004610|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, intervertebral disc, neural retina, olfactory, pelvis, spinal cord, stroma, trigeminal V, vagus X, vertebral cartilage condensation, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|126141;HPO|1804|Alternating esotropia, Amblyopia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Chorioretinal degeneration, Decreased body weight, Delayed skeletal maturation, Intellectual disability, Microcephaly, Reduced number of teeth, Scoliosis, Short stature
EN-PFC2	SERINC1	0.508830431	1.67E-13	Integral membrane protein	BrainSpLMD|57515;Eurexp|euxassay_003005|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614548
EN-PFC2	SC5D	0.57784975	1.73E-13	Enzyme: Oxidase	BrainSpLMD|6309;Eurexp|euxassay_003227|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X	OMIM|602286;HPO|6309|Abnormal platelet morphology, Abnormality of the thoracic spine, Anisopoikilocytosis, Anteverted nares, Arnold-Chiari malformation, Autosomal recessive inheritance, Biparietal narrowing, Bulbous nose, Cataract, Cerebellar cortical atrophy, Cerebral calcification, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus, Failure to thrive, Full cheeks, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hearing impairment, Hepatic failure, Hepatomegaly, High palate, Horseshoe kidney, Hypoplasia of penis, Increased mean platelet volume, Intrahepatic cholestasis, Intrauterine growth retardation, Long philtrum, Lumbosacral meningocele, Meningocele, Microcephaly, Microcornea, Micrognathia, Muscular hypotonia, Myoclonus, Narrow forehead, Opacification of the corneal stroma, Postaxial foot polydactyly, Postaxial hand polydactyly, Prominent metopic ridge, Ptosis, Seizures, Short nose, Sloping forehead, Specific learning disability, Talipes, Thrombocytopenia, Toe syndactyly
EN-PFC2	YWHAZP3	0.585698606	1.95E-13			
EN-PFC2	GDAP1L1	0.78097595	2.01E-13	Integral membrane protein	BrainSpLMD|78997;Eurexp|euxassay_011524|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	
EN-PFC2	PPIA	0.329239885	2.20E-13	Enzyme: Isomerase	BrainSpLMD|5478	OMIM|123840
EN-PFC2	ERC2	1.177286795	2.41E-13	Cytoskeletal associated protein	BrainSpLMD|26059;Eurexp|euxassay_003848|adenohypophysis, adrenal gland, bladder, brain, cervical, cervico-thoracic, dermis, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, lung, metanephros, midgut, oesophagus, olfactory, retina, spinal cord, stomach, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|617250
EN-PFC2	HN1	0.462581489	2.57E-13			
EN-PFC2	NDST3	1.392326316	2.75E-13	Enzyme: Deacetylase	BrainSpLMD|9348;Eurexp|euxassay_009403|mantle layer	OMIM|603950
EN-PFC2	PRKACB	0.521016131	3.06E-13	Serine/threonine kinase	BrainSpLMD|5567	OMIM|176892
EN-PFC2	WSB2	0.551828556	3.20E-13	Ubiquitin proteasome system protein	BrainSpLMD|55884;Eurexp|euxassay_015363|brain, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vestibulocochlear VIII	
EN-PFC2	CNOT7	0.370262952	3.26E-13	Transcription regulatory protein	BrainSpLMD|29883;Eurexp|euxassay_011947|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, brain, dorsal root ganglion, femur, humerus, nasal septum, orbito-sphenoid, petrous part, rib, scapula, spinal cord, turbinate bones	OMIM|604913
EN-PFC2	STXBP1	0.541931395	3.34E-13	Transport/cargo protein	BrainSpLMD|6812	SFARI||Autism, 3 - Suggestive evidence;OMIM|602926;HPO|6812|Absent speech, Ataxia, Autosomal dominant inheritance, Cerebral atrophy, Cerebral hypomyelination, Cutaneous photosensitivity, Developmental regression, EEG abnormality, EEG with burst suppression, Epileptic encephalopathy, Epileptic spasms, Febrile seizures, Focal clonic seizures, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic seizures, Generalized tonic-clonic seizures, Hypoplasia of the corpus callosum, Hypsarrhythmia, Impaired horizontal smooth pursuit, Infantile encephalopathy, Intellectual disability, severe, Muscular hypotonia, Neonatal onset, Neurodevelopmental delay, Obtundation status, Pschomotor retardation, Severe global developmental delay, Spastic paraplegia, Spastic tetraplegia, Status epilepticus, Tremor, Variable expressivity
EN-PFC2	YWHAH	0.594797798	3.57E-13	Adapter molecule	BrainSpLMD|7533;Eurexp|euxassay_007180|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|113508
EN-PFC2	MARCKSL1	0.430884184	3.60E-13	Adapter molecule	BrainSpLMD|65108;BrainSpMouseDev|17125	OMIM|602940
EN-PFC2	UBE2QL1	1.373438229	3.64E-13		Eurexp|euxassay_007895|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, spinal cord, telencephalon, trigeminal V	OMIM|615832
EN-PFC2	GABRA3	1.480246533	3.66E-13	Transport/cargo protein	BrainSpLMD|2556;BrainSpMouseDev|14172	SFARI||Autism, No category;OMIM|305660;HPO|2556|Constipation, Decreased urinary potassium, EMG abnormality, Episodic flaccid weakness, Episodic hypokalemia, Exercise-induced muscle fatigue, Graves disease, Hyperhidrosis, Hypomagnesemia, Hyporeflexia, Increased intramyocellular lipid droplets, Lower limb muscle weakness, Mildly elevated creatine phosphokinase, Muscle cramps, Muscle stiffness, Obesity, Palpitations, Periodic hypokalemic paresis, Postprandial hyperglycemia, Rhabdomyolysis, Tetraplegia, Thyrotoxicosis with toxic multinodular goitre, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Tremor, Urinary retention, Weight loss
EN-PFC2	CRIP2	0.457039525	4.05E-13	Adapter molecule	BrainSpLMD|1397;Eurexp|euxassay_002192|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X, ventricle	OMIM|601183
EN-PFC2	DSTN	0.694492741	4.11E-13	Cytoskeletal associated protein	BrainSpLMD|11034;Eurexp|euxassay_001919|atrium, bladder, brain, cervico-thoracic, dorsal root ganglion, epidermis, epithelium, glossopharyngeal IX, hindgut, midgut, neural retina, oesophagus, olfactory, oral epithelium, pharyngo-tympanic tube, respiratory, spinal cord, stomach, stroma, submandibular gland primordium, thoracic, thymus primordium, thyroid, trachea, trigeminal V, vagus X, ventricle, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, wall	OMIM|609114
EN-PFC2	MIR4477B	0.612176531	4.17E-13			
EN-PFC2	FNBP1L	0.506883105	4.20E-13	Cytoskeletal protein	BrainSpLMD|54874;Eurexp|euxassay_007867|diencephalon, dorsal root ganglion, glossopharyngeal IX, hindbrain, midbrain, neural retina, pituitary, spinal cord, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608848
EN-PFC2	ATP9A	0.840438395	4.21E-13	ATPase		OMIM|609126
EN-PFC2	DNAH10	1.23031487	4.53E-13	Cytoskeletal protein	BrainSpLMD|196385	SFARI||Autism, No category;OMIM|605884
EN-PFC2	MTURN	0.313275966	4.81E-13	Unclassified	BrainSpLMD|222166	
EN-PFC2	RP5.1085F17.3	0.423075676	5.06E-13			
EN-PFC2	DYNC1H1	0.571442201	5.80E-13	ATPase	BrainSpLMD|1778;Eurexp|euxassay_008019|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|600112;HPO|1778|Abnormality of the foot, Autosomal dominant inheritance, Childhood onset, Decreased motor nerve conduction velocity, Decreased patellar reflex, Difficulty running, Distal muscle weakness, Distal sensory impairment, Downslanted palpebral fissures, EMG: neuropathic changes, Focal seizures, Frequent falls, Gait disturbance, Hyporeflexia, Intellectual disability, Limb muscle weakness, Microcephaly, Motor delay, Muscular hypotonia, Pachygyria, Pes cavus, Phenotypic variability, Plagiocephaly, Prominent forehead, Proximal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Seizures, Sensory impairment, Slow progression, Spinal muscular atrophy, Type 2 muscle fiber predominance, Waddling gait
EN-PFC2	TMEM14A	0.369537923	6.32E-13	Integral membrane protein	BrainSpLMD|28978	OMIM|616870
EN-PFC2	FGF9	0.729000468	6.36E-13	Growth factor	BrainSpLMD|2254;BrainSpMouseDev|13957	OMIM|600921;HPO|2254|Autosomal dominant inheritance, Cubitus valgus, Humeroradial synostosis, Limited interphalangeal movement, Metacarpal synostosis, Metatarsal synostosis
EN-PFC2	SCG5	0.523718234	6.62E-13	Chaperone	BrainSpLMD|6447;Eurexp|euxassay_007348|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, oesophagus, olfactory, pituitary, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20157	OMIM|173120
EN-PFC2	VASH2	0.428821652	6.63E-13	Unclassified	BrainSpLMD|79805	OMIM|610471
EN-PFC2	SLC12A2	0.545575058	7.29E-13	Membrane transport protein	BrainSpLMD|6558;Eurexp|euxassay_008837|cortex, incisor, left lung, midgut, olfactory, pharyngo-tympanic tube, rectum, right lung, stomach, submandibular gland primordium;BrainSpMouseDev|20258	OMIM|600840
EN-PFC2	PCDH17	1.291473875	7.48E-13	Adhesion molecule	BrainSpLMD|27253	OMIM|611760
EN-PFC2	STMN4	0.816584515	7.61E-13	Unclassified	BrainSpLMD|81551	
EN-PFC2	AC018643.4	1.006843822	7.61E-13			
EN-PFC2	SMARCA2	0.658134377	8.22E-13	Transcription factor	BrainSpLMD|6595;Eurexp|euxassay_000790|cerebral cortex, mesenchyme	SFARI||Autism, No category;OMIM|600014;HPO|6595|Abnormal hair pattern, Abnormality of the metacarpal bones, Absence seizures, Absent eyebrow, Absent speech, Aggressive behavior, Alopecia, Anteverted nares, Aphasia, Autosomal dominant inheritance, Blepharophimosis, Brachydactyly, Broad distal phalanx of finger, Broad philtrum, Clubbing of toes, Cryptorchidism, Curly eyelashes, Dysphasia, Echolalia, Eczema, Epileptic spasms, Everted lower lip vermilion, Excessive wrinkled skin, Failure to thrive, Global developmental delay, High, narrow palate, Highly arched eyebrow, Hypotrichosis, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint dislocation, Long eyelashes, Long philtrum, Low anterior hairline, Microcephaly, Mutism, Narrow nasal bridge, Poor speech, Prominent interphalangeal joints, Sandal gap, Scoliosis, Seizures, Severe short stature, Short metacarpal, Short metatarsal, Short palm, Short palpebral fissure, Short phalanx of finger, Smooth philtrum, Sparse scalp hair, Specific learning disability, Status epilepticus, Thick lower lip vermilion, Thick nasal alae, Thin vermilion border, Triangular face, Wide intermamillary distance, Wide mouth, Wide nasal base
EN-PFC2	TMEM35	0.284492654	1.02E-12			
EN-PFC2	TUBB	0.386086415	1.09E-12	Cytoskeletal protein	BrainSpLMD|203068	OMIM|191130;HPO|203068|Abnormality of cardiovascular system morphology, Abnormality of the skin, Ataxia, Autosomal dominant inheritance, Blepharophimosis, Brachycephaly, Cerebellar hypoplasia, Cleft palate, Congenital onset, Delayed speech and language development, Edema, Epicanthus, Flat face, Global developmental delay, High palate, Hypertelorism, Hypoplasia of the brainstem, Hypoplastic nipples, Increased number of skin folds, Intellectual disability, Irregular hyperpigmentation, Localized neuroblastoma, Low-set ears, Microcephaly, Motor delay, Narrow mouth, Periorbital fullness, Posteriorly rotated ears, Short neck, Short palpebral fissure, Thickened skin, Wide intermamillary distance
EN-PFC2	YWHAB	0.367657706	1.29E-12	Adapter molecule	BrainSpLMD|7529;Eurexp|euxassay_012917|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn	OMIM|601289
EN-PFC2	GPRIN3	1.307055332	1.30E-12	Unclassified	BrainSpLMD|285513	OMIM|611241
EN-PFC2	CEP170	0.394410526	1.32E-12	Unclassified	BrainSpLMD|9859	OMIM|613023
EN-PFC2	SLC44A1	0.508984352	1.34E-12	Integral membrane protein	BrainSpLMD|23446;Eurexp|euxassay_019727|bladder, clavicle, cornea, femur, fibula, hindgut, liver, lung, mandible, mantle layer, maxilla, midgut, oesophagus, olfactory, orbito-sphenoid, palatal shelf, pancreas, phalanx, pituitary, rib, sternum, submandibular gland primordium, testis, thymus primordium, tibia, urethra, ventricular layer, vibrissa	OMIM|606105
EN-PFC2	NAP1L3	0.638301605	1.45E-12	Unclassified	BrainSpLMD|4675;Eurexp|euxassay_002914|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|300117
EN-PFC2	MAMLD1	1.189276904	1.58E-12	Unclassified	BrainSpLMD|10046;Eurexp|euxassay_011718|diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, lung, trigeminal V, vagus X, vertebral axis muscle system	OMIM|300120;HPO|10046|Hypospadias, Penoscrotal hypospadias, X-linked recessive inheritance
EN-PFC2	ELAVL4	0.3877895	1.88E-12	RNA binding protein	BrainSpLMD|1996	OMIM|168360
EN-PFC2	CADM3	0.557923101	1.89E-12	Immunoglobulin	BrainSpLMD|57863;Eurexp|euxassay_014341|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|60961	OMIM|609743
EN-PFC2	AKR1C2	1.167568712	1.90E-12	Enzyme: Dehydrogenase	BrainSpLMD|1646	OMIM|600450;HPO|1646|Ambiguous genitalia, Autosomal recessive inheritance, Cryptorchidism, Male pseudohermaphroditism, Sex reversal
EN-PFC2	NGRN	0.410926374	1.98E-12	Unclassified		OMIM|616718
EN-PFC2	RAB11A	0.544604873	2.02E-12	GTPase	BrainSpLMD|8766	OMIM|605570
EN-PFC2	GOLGA7B	1.006895015	2.02E-12	Unclassified		OMIM|614189
EN-PFC2	ARL6IP5	0.463963176	2.07E-12	Unclassified	BrainSpLMD|10550	OMIM|605709
EN-PFC2	SYNDIG1	1.765217465	2.13E-12	Enzyme: Methyltransferase	BrainSpLMD|79953	OMIM|614311
EN-PFC2	FSD1L	0.377458618	2.41E-12	Unclassified	BrainSpLMD|83856	OMIM|609829
EN-PFC2	CTA.360L10.1	0.872156206	2.53E-12			
EN-PFC2	SYT14	0.254077037	2.62E-12	Membrane transport protein	BrainSpLMD|255928	OMIM|610949;HPO|255928|Autosomal recessive inheritance, Cerebellar atrophy, Dysarthria, Global developmental delay, Impaired smooth pursuit, Limb ataxia, Slow progression, Truncal ataxia
EN-PFC2	KIAA1549L	0.812465605	2.64E-12	Unclassified	BrainSpLMD|25758;Eurexp|euxassay_013276|facial VII, mantle layer, marginal layer, ventral grey horn	OMIM|612297
EN-PFC2	MED13L	0.691668814	2.71E-12	Unclassified	BrainSpLMD|23389	SFARI||Autism, 2 - Strong candidate;OMIM|608771;HPO|23389|Ataxia, Autism, Autosomal dominant inheritance, Brachycephaly, Bulbous nose, Clinodactyly, Coloboma, Cryptorchidism, Depressed nasal bridge, Dysarthria, Everted lower lip vermilion, Frontal bossing, Generalized hypotonia, Global developmental delay, Hypertelorism, Incomplete penetrance, Infantile onset, Intellectual disability, moderate, Low-set ears, Macroglossia, Macrotia, Motor delay, Narrow forehead, Open mouth, Patent foramen ovale, Plagiocephaly, Poor speech, Prominent forehead, Recurrent infections, Round face, Short neck, Strabismus, Transposition of the great arteries, Triangular face, Upslanted palpebral fissure, Wide mouth
EN-PFC2	GPR27	1.055764286	2.75E-12	G protein coupled receptor	BrainSpLMD|2850	OMIM|605187
EN-PFC2	TMEM108.AS1	0.571577735	2.98E-12			
EN-PFC2	HS6ST3	1.597292329	3.15E-12	Enzyme: Sulphotransferase	BrainSpLMD|266722;Eurexp|euxassay_009084|mantle layer	OMIM|609401
EN-PFC2	KIAA1045	1.612505779	3.42E-12			
EN-PFC2	KHDRBS3	0.697559256	3.45E-12	RNA binding protein	BrainSpLMD|10656	SFARI||Autism, 5 - Hypothesized but untested;OMIM|610421
EN-PFC2	XRCC5	0.280994692	3.64E-12	DNA binding protein	BrainSpLMD|7520;Eurexp|euxassay_009101|thymus primordium	OMIM|194364
EN-PFC2	FBXW7	0.92081585	3.66E-12	Ubiquitin proteasome system protein	BrainSpLMD|55294;BrainSpMouseDev|30242	OMIM|606278;COSMIC||colorectal, endometrial, T-ALL
EN-PFC2	ISLR2	0.577175051	3.71E-12	Unclassified	BrainSpLMD|57611	OMIM|614179
EN-PFC2	MORF4L1	0.251436539	4.08E-12	Transcription regulatory protein	BrainSpLMD|10933	OMIM|607303
EN-PFC2	RUFY3	0.429874917	4.73E-12	Unclassified	BrainSpLMD|22902	OMIM|611194
EN-PFC2	PEX5L	2.289570912	4.98E-12	Unclassified	BrainSpLMD|51555;BrainSpMouseDev|37432	OMIM|611058
EN-PFC2	NPEPPS	0.517509281	5.30E-12	Aminopeptidase	BrainSpLMD|9520;Eurexp|euxassay_011604|dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, midgut, neural retina, submandibular gland primordium, trigeminal V, urethra, vestibulocochlear VIII, vibrissa	OMIM|606793
EN-PFC2	PACS2	0.757096717	6.94E-12	Unclassified	BrainSpLMD|23241;Eurexp|euxassay_011397|brain, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, spinal cord, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|610423
EN-PFC2	TBC1D30	1.407440684	7.05E-12			OMIM|615077
EN-PFC2	RRAS2	1.006467822	7.40E-12	GTPase	BrainSpLMD|22800;Eurexp|euxassay_010734|thymus primordium	OMIM|600098
EN-PFC2	ENC1	0.456214472	7.64E-12	Structural protein	BrainSpLMD|8507;BrainSpMouseDev|13581	OMIM|605173
EN-PFC2	MYO16	1.183893385	8.03E-12	Cytoskeletal associated protein	Eurexp|euxassay_011916|brain, mantle layer, spinal cord, tegmentum	SFARI||Autism, 4 - Minimal evidence;OMIM|615479
EN-PFC2	FZD4	1.244900038	8.44E-12	G protein coupled receptor	BrainSpLMD|8322;Eurexp|euxassay_018160|axial muscle, axial skeleton, calyces, head mesenchyme, mesenchyme, vertebral axis muscle system;BrainSpMouseDev|14142	OMIM|604579;HPO|8322|Autosomal dominant inheritance, Blindness, Exudative vitreoretinopathy, Falciform retinal fold, Infantile onset, Peripheral retinal avascularization, Pigmentary retinal degeneration, Posterior vitreous detachment, Premature birth, Recurrent fractures, Reduced visual acuity, Retinal detachment, Retinal exudate, Retinal neovascularization, Slow progression, Small for gestational age, Subcapsular cataract, Vitreous hemorrhage
EN-PFC2	SLC8A1.AS1	0.579498542	8.46E-12			
EN-PFC2	KIAA1456	0.555018429	8.58E-12	Unclassified;Enzyme: Aminomethyl transferase	BrainSpLMD|57604;BrainSpMouseDev|106517	OMIM|615666
EN-PFC2	TCEAL2	0.347986903	8.65E-12	Transcription regulatory protein	BrainSpLMD|140597	
EN-PFC2	SH3GL3	0.811700413	9.29E-12	Unclassified	BrainSpLMD|6457	OMIM|603362
EN-PFC2	TULP4	0.416700375	9.53E-12	Unclassified	BrainSpLMD|56995;Eurexp|euxassay_019639|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, marginal layer, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ;BrainSpMouseDev|44684	
EN-PFC2	MOK	0.68662331	9.64E-12	Serine/threonine kinase	BrainSpLMD|5891	OMIM|605762
EN-PFC2	CMC2	0.810745872	1.05E-11	Unclassified	BrainSpLMD|56942	
EN-PFC2	RFX3	0.579038985	1.05E-11	Transcription factor	BrainSpLMD|5991	SFARI||Autism, 4 - Minimal evidence;OMIM|601337
EN-PFC2	ZPR1	0.589494739	1.13E-11	Adapter molecule	BrainSpLMD|8882;Eurexp|euxassay_009271|embryo	OMIM|603901
EN-PFC2	RUNDC3B	1.338747267	1.13E-11	Unclassified	BrainSpLMD|154661	OMIM|617295
EN-PFC2	MIR124.2HG	0.562950251	1.25E-11			
EN-PFC2	PREPL	0.869080197	1.36E-11	Serine protease	BrainSpLMD|9581;Eurexp|euxassay_004469|bladder, brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, retina, spinal cord, thoracic, tongue, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII	OMIM|609557;HPO|9581|Autosomal recessive inheritance, Congenital onset, Cystinuria, Decreased fetal movement, Depressed nasal bridge, Dolichocephaly, Epicanthus, Failure to thrive, Fatigue, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, Growth delay, Growth hormone deficiency, Hypocalcemia, Hypogonadism, Intellectual disability, moderate, Lactic acidosis, Long eyelashes, Low-set, posteriorly rotated ears, Mitochondrial respiratory chain defects, Motor delay, Muscular hypotonia, Nasal speech, Nephrolithiasis, Polyphagia, Ptosis, Retrognathia, Seizures, Short stature, Tented upper lip vermilion
EN-PFC2	FABP3	1.384907347	1.40E-11	Transport/cargo protein	BrainSpLMD|2170;Eurexp|euxassay_003367|Meckel's cartilage, cranium, incisor, lateral recess, molar, orbito-sphenoid, ventral grey horn, ventricle	SFARI||Autism, 5 - Hypothesized but untested;OMIM|134651
EN-PFC2	CHN2	0.951048939	1.50E-11	GTPase activating protein	BrainSpLMD|1124;Eurexp|euxassay_006113|embryo	OMIM|602857
EN-PFC2	STRBP	0.276091102	1.55E-11	RNA binding protein	BrainSpLMD|55342;Eurexp|euxassay_012970|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|611138
EN-PFC2	MAP3K13	0.42507774	1.65E-11	Serine/threonine kinase	BrainSpLMD|9175;Eurexp|euxassay_014094|dorsal grey horn, mantle layer	OMIM|604915;COSMIC||breast
EN-PFC2	ELMO1	0.779376657	1.73E-11	Unclassified;Motor protein	BrainSpLMD|9844;Eurexp|euxassay_012546|floor plate, floorplate, mantle layer, marginal layer, vibrissa	OMIM|606420
EN-PFC2	CDKL5	0.63579179	1.91E-11	Serine/threonine kinase	BrainSpLMD|6792	SFARI||Autism, No category;OMIM|300203;HPO|6792|Abnormality of movement, Abnormality of skin morphology, Abnormality of the antitragus, Abnormality of the fingernails, Abnormality of the metacarpal bones, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Broad forehead, Camptodactyly of finger, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Constipation, Deeply set eye, Developmental regression, EEG abnormality, Epileptic encephalopathy, Fine hair, Gastroesophageal reflux, Generalized hypotonia, Generalized myoclonic seizures, Global developmental delay, Hearing impairment, Hyperventilation, Hypsarrhythmia, Inability to walk, Infantile onset, Infantile spasms, Intellectual disability, Intellectual disability, profound, Long philtrum, Microcephaly, Multifocal seizures, Myoclonus, Nephrolithiasis, Poor eye contact, Progressive microcephaly, Prominent forehead, Scoliosis, Seizures, Short foot, Short palm, Small hand, Spasticity, Stereotypy, Tapered finger, Thick lower lip vermilion, Thick vermilion border, Underdeveloped nasal alae, Ventriculomegaly, Wide mouth, Wide nose, X-linked dominant inheritance
EN-PFC2	ATP6V1G2	1.044157812	1.99E-11	ATPase	Eurexp|euxassay_002941|basal plate, facial VII, glossopharyngeal IX, lateral wall, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|606853
EN-PFC2	ATP6V0B	0.503224357	2.01E-11	ATPase	BrainSpLMD|533;Eurexp|euxassay_004026|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|603717
EN-PFC2	CYFIP2	0.298815624	2.07E-11	Unclassified	BrainSpLMD|26999;Eurexp|euxassay_012077|Meckel's cartilage, basioccipital bone, basisphenoid bone, brain, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, olfactory, orbito-sphenoid, pelvic girdle, respiratory, rib, scapula, spinal cord, temporal bone, tibia, trigeminal V, turbinate, vestibulocochlear VIII, vomeronasal organ	OMIM|606323
EN-PFC2	CYP51A1	0.335792248	2.08E-11	Unclassified	BrainSpLMD|1595;Eurexp|euxassay_010645|adrenal gland, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, mandible, maxilla, molar, neural retina, spinal cord, testis, thoracic, trigeminal V, vibrissa	OMIM|601637
EN-PFC2	ANKRD44	0.898636372	2.20E-11	Unclassified	BrainSpLMD|91526	
EN-PFC2	ATP6V1A	0.459323063	2.46E-11	Transport/cargo protein	BrainSpLMD|523;Eurexp|euxassay_004518|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|607027;HPO|523|Abnormal apolipoprotein level, Abnormal isoelectric focusing of serum transferrin, Abnormal subcutaneous fat tissue distribution, Broad nasal tip, Carious teeth, Cerebellar hypoplasia, Coarse hair, Congenital hip dislocation, Dandy-Walker malformation, Decreased muscle mass, Delayed closure of the anterior fontanelle, Delayed speech and language development, Dementia, Downslanted palpebral fissures, Excessive wrinkled skin, Failure to thrive, Feeding difficulties, Fragmented elastic fibers in the dermis, Generalized joint laxity, Global developmental delay, High palate, Hypertelorism, Infantile muscular hypotonia, Inguinal hernia, Intellectual disability, profound, Intrauterine growth retardation, Lipodystrophy, Lissencephaly, Long philtrum, Low-set ears, Malar flattening, Motor delay, Pachygyria, Polymicrogyria, Poor speech, Postnatal growth retardation, Progressive microcephaly, Prominent nasolabial fold, Prominent veins on trunk, Psychomotor deterioration, Redundant neck skin, Seizures, Severe Myopia, Short nose, Short stature, Smooth philtrum, Sparse hair, Spasticity, Strabismus, Subretinal pigment epithelium hemorrhage, Thick cerebral cortex, Thick hair
EN-PFC2	DHCR24	0.906256593	2.51E-11	Enzyme: Reductase	BrainSpLMD|1718;Eurexp|euxassay_011628|adrenal gland, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lobe, lung, mantle layer, marginal layer, midgut, molar, neural retina, olfactory, pharyngo-tympanic tube, rectum, respiratory, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ	OMIM|606418;HPO|1718|Absent septum pellucidum, Agenesis of corpus callosum, Anteverted nares, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Bifid uvula, Depressed nasal bridge, Failure to thrive, Feeding difficulties, Hydrocephalus, Intellectual disability, Intrauterine growth retardation, Large earlobe, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscle stiffness, Narrow mouth, Nystagmus, Partial agenesis of the corpus callosum, Phenotypic variability, Relative macrocephaly, Retrognathia, Rigidity, Seizures, Severe short stature, Short nose, Spasticity, Status epilepticus, Strabismus, Submucous cleft hard palate, Ventriculomegaly
EN-PFC2	GNAQ	0.432688983	2.67E-11	G protein	BrainSpLMD|2776	OMIM|600998;COSMIC||uveal melanoma, primary central nervous system melanocytic neoplasms;HPO|2776|Arachnoid hemangiomatosis, Arteriovenous malformation, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Buphthalmos, Capillary hemangiomas, Cerebral cortical atrophy, Choroidal hemangioma, Choroidal melanoma, Ciliary body melanoma, Facial hemangioma, Glaucoma, Hypermelanotic macule, Hyperreflexia, Intellectual disability, Iris melanoma, Macrocephaly, Nevus flammeus, Optic atrophy, Papule, Retinal detachment, Seizures, Sporadic, Strabismus, Stroke, Visual loss
EN-PFC2	KIAA1549	0.474716517	2.78E-11	Unclassified	BrainSpLMD|57670;Eurexp|euxassay_013378|brain, cartilaginous ring, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, metanephros, molar, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613344;COSMIC||pilocytic astrocytoma
EN-PFC2	MN1	0.569546994	2.79E-11	Cell cycle control protein	BrainSpLMD|4330;Eurexp|euxassay_012879|axial skeleton, head mesenchyme, mantle layer, marginal layer, metacarpus, metatarsus, palatal shelf, phalanx, tarsus, ventral grey horn, ventricular layer, vibrissa	OMIM|156100;COSMIC||AML, meningioma;HPO|4330|Adult onset, Autosomal dominant inheritance, Incomplete penetrance, Meningioma
EN-PFC2	PTPRD	0.255037422	2.91E-11	Receptor tyrosine phosphatase	BrainSpLMD|5789	OMIM|601598
EN-PFC2	DTX4	0.921678852	3.12E-11	Ubiquitin proteasome system protein	Eurexp|euxassay_015898|floor plate, floorplate, ventricular layer;BrainSpMouseDev|83873	OMIM|616110
EN-PFC2	FEZ1	0.414005687	3.23E-11	Unclassified	BrainSpLMD|9638;BrainSpMouseDev|87970	OMIM|604825
EN-PFC2	CERS6	0.397873344	3.50E-11	Transcription regulatory protein	BrainSpLMD|253782	OMIM|615336
EN-PFC2	TOX3	0.353747215	3.53E-11	Unclassified	Eurexp|euxassay_006138|cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, pancreas, paraxial mesenchyme, penis, retina, stomach, stroma, tongue, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|89252	OMIM|611416
EN-PFC2	NEDD9	0.604303738	4.06E-11	Adhesion molecule	BrainSpLMD|4739;Eurexp|euxassay_006351|aorta, calyces, cortex, epithelium, incisor, left lung, mesenchyme, midgut, molar, olfactory, pelvis, rectum, retina, right lung, sternum, stomach, thymus primordium, thyroid, trachea, ureter, ventricular layer, vibrissa, vomeronasal organ	OMIM|602265
EN-PFC2	ACAT1	0.818126436	4.06E-11	Enzyme: Acyltransferase	BrainSpLMD|38	OMIM|607809;HPO|38|Autosomal recessive inheritance, Dehydration, Episodic ketoacidosis, Intellectual disability, Vomiting
EN-PFC2	ATP5O	0.271223053	4.23E-11			
EN-PFC2	FRMD3	0.826665311	4.25E-11	Structural protein	BrainSpLMD|257019	OMIM|607619
EN-PFC2	SH3GL2	1.068532968	4.81E-11	Unclassified	BrainSpLMD|6456	OMIM|604465
EN-PFC2	C6ORF174	0.847345114	4.99E-11			
EN-PFC2	NUAK1	0.892681902	5.01E-11	Enzyme: Phosphotransferase	BrainSpLMD|9891;Eurexp|euxassay_010978|aorta, axial skeleton, clavicle, dorsal root ganglion, incisor, mandible, mantle layer, maxilla, metanephros, molar, neural retina, olfactory, orbito-sphenoid, trigeminal V, vibrissa, vomeronasal organ	SFARI||Autism, 3 - Suggestive evidence;OMIM|608130
EN-PFC2	KIF5C	0.624335271	5.35E-11	Motor protein	BrainSpLMD|3800;Eurexp|euxassay_015929|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, olfactory, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|16347	SFARI||Autism, No category;OMIM|604593;HPO|3800|Absent speech, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Congenital onset, Cortical dysplasia, Fetal akinesia sequence, Global developmental delay, Hypoplasia of the corpus callosum, Intrauterine growth retardation, Microcephaly, Polymicrogyria, Seizures, Spastic tetraplegia, Variable expressivity
EN-PFC2	NEFM	0.522092432	5.79E-11	Structural protein	BrainSpLMD|4741;Eurexp|euxassay_009463|basal plate, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lip, mantle layer, marginal layer, midgut, neural retina, pons, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|162250
EN-PFC2	PAK1IP1	0.324890911	5.83E-11	Cytoskeletal associated protein	BrainSpLMD|55003;Eurexp|euxassay_000585|chondrocranium, lobe	OMIM|607811
EN-PFC2	SREBF2	0.337399096	6.04E-11	Transcription factor	BrainSpLMD|6721;BrainSpMouseDev|20550	OMIM|600481
EN-PFC2	L3MBTL3	0.382408795	6.14E-11	Transcription regulatory protein	BrainSpLMD|84456	
EN-PFC2	IDH1	0.565890543	6.87E-11	Enzyme: Dehydrogenase	BrainSpLMD|3417;Eurexp|euxassay_018329|adrenal gland, brain, cervical, cervico-thoracic, clavicle, dorsal root ganglion, glossopharyngeal IX, neural retina, rib, spinal cord, stroma, testis, thoracic, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	OMIM|147700;COSMIC||glioblastoma;HPO|3417|Abnormality of the metaphysis, Bone pain, Exostoses, Hemangiomatosis, Joint stiffness, Micromelia, Multiple enchondromatosis, Osteolysis, Scoliosis, Short stature, Subcutaneous nodule, Venous thrombosis, Visceral angiomatosis
EN-PFC2	PCMT1	0.482052775	7.34E-11	Enzyme: Methyltransferase	BrainSpLMD|5110	OMIM|176851
EN-PFC2	YWHAQ	0.512977405	7.55E-11	Adapter molecule	BrainSpLMD|10971	OMIM|609009
EN-PFC2	JAZF1	1.176445444	7.58E-11	DNA binding protein	BrainSpLMD|221895;Eurexp|euxassay_014387|mantle layer, ventral grey horn;BrainSpMouseDev|87350	OMIM|606246;COSMIC||endometrial stromal tumour
EN-PFC2	CYP51A1P2	0.250502261	8.25E-11			
EN-PFC2	VAMP2	0.543461338	8.48E-11	Membrane transport protein	BrainSpLMD|6844	OMIM|185881
EN-PFC2	BEX4	0.322588601	8.51E-11	Adapter molecule	Eurexp|euxassay_006309|calyces, liver, lung, midgut, pancreas, rectum, stomach, submandibular gland primordium, urethra	OMIM|300692
EN-PFC2	BLOC1S2	0.369532884	8.61E-11	Unclassified	BrainSpLMD|282991	OMIM|609768
EN-PFC2	SNAP91	0.460663841	8.65E-11	Adapter molecule	BrainSpLMD|9892;Eurexp|euxassay_000563|atrium, calyces, cervical, cervico-thoracic, choroid plexus, dorsal root ganglion, extraembryonic component, facial VII, foregut-midgut junction, glossopharyngeal IX, heart, hindgut, hindlimb, limb, mantle layer, marginal layer, mesenchyme, midgut, neural retina, olfactory, stomach, stroma, thoracic, trigeminal V, urethra, vagus X, ventricle, vertebral axis muscle system, vestibulocochlear VIII	OMIM|607923
EN-PFC2	RTN3	0.539648047	9.02E-11	Integral membrane protein	BrainSpLMD|10313;Eurexp|euxassay_008415|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|604249
EN-PFC2	DCLK1	0.461825966	9.02E-11	Serine/threonine kinase	BrainSpLMD|9201;Eurexp|euxassay_018536|floor plate, floorplate, mantle layer, ventral grey horn, ventricular layer	OMIM|604742
EN-PFC2	TRIM36	0.569048741	9.20E-11	Unclassified	BrainSpLMD|55521;Eurexp|euxassay_012029|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, trigeminal V, vagus X, ventral grey horn, vomeronasal organ;BrainSpMouseDev|27849	OMIM|609317;HPO|55521|Anencephaly, Spina bifida
EN-PFC2	RAP2B	0.361164044	9.49E-11	GTPase	BrainSpLMD|5912;Eurexp|euxassay_002574|vibrissa	OMIM|179541
EN-PFC2	MAN1C1	0.744521433	9.52E-11	Enzyme: Hydrolase	BrainSpLMD|57134;Eurexp|euxassay_015930|marginal layer	OMIM|616772
EN-PFC2	MAGEE1	0.70002504	9.57E-11	Unclassified	BrainSpLMD|57692	OMIM|300759
EN-PFC2	BZW1	0.355605331	9.74E-11	Transcription factor	BrainSpLMD|9689	
EN-PFC2	SIAH3	0.90580542	9.96E-11	Unclassified	BrainSpLMD|283514	OMIM|615609
EN-PFC2	SPTBN2	0.874588672	1.00E-10	Cytoskeletal associated protein	BrainSpLMD|6712	OMIM|604985;HPO|6712|Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Cognitive impairment, Delayed speech and language development, Dysarthria, Dysdiadochokinesis, Dysmetria, Facial myokymia, Gait ataxia, Gait disturbance, Gaze-evoked nystagmus, Global developmental delay, Hyperreflexia, Impaired smooth pursuit, Impaired vibratory sensation, Incoordination, Infantile onset, Intention tremor, Limb ataxia, Slow progression, Slurred speech
EN-PFC2	CCDC90B	0.329514271	1.01E-10	Unclassified	BrainSpLMD|60492	
EN-PFC2	MAP6	0.423907649	1.04E-10	Cytoskeletal associated protein	BrainSpLMD|4135;Eurexp|euxassay_000634|cochlear component, dorsal root ganglion, facial VII, inferior, neural retina, olfactory, superior, trigeminal V, vestibular component	OMIM|601783
EN-PFC2	EXTL3	0.630268733	1.06E-10	Enzyme: Glucosaminyltransferase	BrainSpLMD|2137;Eurexp|euxassay_008608|cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, pancreas, pharyngo-tympanic tube, sublingual gland primordium, submandibular gland primordium, trigeminal V, vagus X, valve, vestibulocochlear VIII	OMIM|605744;HPO|2137|Autosomal recessive inheritance, Brachydactyly, Broad nasal tip, Coarse facial features, Coxa valga, Decreased antibody level in blood, Delayed ossification of carpal bones, Depressed nasal bridge, Dislocated radial head, Disproportionate short stature, Eosinophilia, Epiphyseal dysplasia, Full cheeks, Hypoplasia of the capital femoral epiphysis, Intellectual disability, Kyphoscoliosis, Metaphyseal dysplasia, Motor delay, Narrow greater sacrosciatic notches, Platyspondyly, Prominent nose, Recurrent infections, Single transverse palmar crease
EN-PFC2	RAB6B	1.28879979	1.22E-10	GTPase	BrainSpLMD|51560;Eurexp|euxassay_005421|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, respiratory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|615852
EN-PFC2	RORB	1.402948861	1.31E-10	Transcription factor	BrainSpLMD|6096;Eurexp|euxassay_002725|diencephalon, dorsal grey horn, hindbrain, marginal layer, midbrain, neural retina, ventricular layer;BrainSpMouseDev|86335	OMIM|601972
EN-PFC2	SDK1	1.009513989	1.39E-10	Adhesion molecule	BrainSpLMD|221935;Eurexp|euxassay_009453|dorsal root ganglion, neural retina, olfactory, trigeminal V, vomeronasal organ	SFARI||Autism, No category;OMIM|607216
EN-PFC2	DCTN3	0.568250012	1.41E-10	Cell cycle control protein	BrainSpLMD|11258	OMIM|607387
EN-PFC2	APLP2	0.327205087	1.49E-10	Integral membrane protein	BrainSpLMD|334;Eurexp|euxassay_004667|axial muscle, fundus region, submandibular gland primordium, urethra, ventral grey horn, vibrissa	OMIM|104776
EN-PFC2	CYB5B	0.707094851	1.49E-10	Transport/cargo protein	BrainSpLMD|80777;Eurexp|euxassay_010042|adrenal gland, axial muscle, cortex, lung, mandible, maxilla, midgut, neural retina, orbito-sphenoid, pancreas, wall	OMIM|611964
EN-PFC2	ZSWIM6	0.366577823	1.53E-10		Eurexp|euxassay_012565|mandible, mantle layer, maxilla	OMIM|615951;HPO|57688|Agenesis of corpus callosum, Autosomal dominant inheritance, Bifid nose, Brachycephaly, Broad nasal tip, Choroid plexus cyst, Cleft palate, Cleft upper lip, Encephalocele, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Large sella turcica, Meningocele, Preaxial polydactyly, Retrocerebellar cyst, Seizures, Syndactyly, Talipes equinovarus, Telecanthus, Thick nail, Thick nasal alae, Ventriculomegaly
EN-PFC2	LNX1	1.134928811	1.59E-10	Ubiquitin proteasome system protein	BrainSpLMD|84708	OMIM|609732
EN-PFC2	TSPAN13	0.287870561	1.73E-10	Integral membrane protein	BrainSpLMD|27075;Eurexp|euxassay_003891|brain, cervical, cervico-thoracic, dorsal root ganglion, ductus deferens, facial VII, fundus region, glossopharyngeal IX, left lung, neural retina, olfactory, physiological umbilical hernia, rectum, right lung, spinal cord, stomach, thoracic, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII	OMIM|613139
EN-PFC2	RIMS1	0.916481991	1.86E-10	Transport/cargo protein	BrainSpLMD|22999	SFARI||Autism, 2 - Strong candidate;OMIM|606629;HPO|22999|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal dominant inheritance, Bull's eye maculopathy, Cone/cone-rod dystrophy, Nyctalopia, Photophobia, Retinal flecks, Visual impairment
EN-PFC2	PTP4A1	0.545308047	1.86E-10	Tyrosine phosphatase	BrainSpLMD|7803;Eurexp|euxassay_018527|adrenal gland, cervical, cervico-thoracic, forebrain, hindbrain, incisor, lung, midbrain, neural retina, olfactory, spinal cord, stomach, submandibular gland primordium, thoracic, wall	OMIM|601585
EN-PFC2	VDAC3	0.407503261	1.91E-10	Voltage gated channel	BrainSpLMD|7419;Eurexp|euxassay_007065|embryo	OMIM|610029
EN-PFC2	MIR4477A	1.079137001	2.12E-10			
EN-PFC2	RAP1GDS1	0.718367021	2.22E-10	Guanine nucleotide exchange factor	BrainSpLMD|5910;Eurexp|euxassay_003801|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, penis, trigeminal V, ventral grey horn	OMIM|179502;COSMIC||T-ALL
EN-PFC2	PPIAP22	0.293076933	2.32E-10			
EN-PFC2	AKR1C1	0.741127689	2.36E-10	Enzyme: Reductase	BrainSpLMD|1645	OMIM|600449
EN-PFC2	HDAC2	0.290268841	2.61E-10	Transcription regulatory protein	BrainSpLMD|3066;BrainSpMouseDev|14958	OMIM|605164
EN-PFC2	FAM204A	0.322860907	2.67E-10	Unclassified	BrainSpLMD|63877;Eurexp|euxassay_007076|embryo	
EN-PFC2	LLNLF.187D8.1	0.583938801	2.73E-10			
EN-PFC2	DYNLRB1	0.443981273	2.77E-10	Unclassified;Transport/cargo protein	BrainSpLMD|83658;Eurexp|euxassay_002535|dorsal root ganglion	OMIM|607167
EN-PFC2	LINC00657	0.740753602	2.80E-10			
EN-PFC2	LDHB	0.256343072	2.85E-10	Enzyme: Dehydrogenase	BrainSpLMD|3945	OMIM|150100
EN-PFC2	FAM217B	0.759045949	2.89E-10	Unclassified	BrainSpLMD|63939	
EN-PFC2	RNF219	0.732793106	2.96E-10	Ubiquitin proteasome system protein	BrainSpLMD|79596	OMIM|615906
EN-PFC2	TMEM175	0.689172368	3.37E-10	Unclassified	BrainSpLMD|84286	OMIM|616660
EN-PFC2	PPA2	0.799151018	3.39E-10	Enzyme: Phosphatase	BrainSpLMD|27068	OMIM|609988;HPO|27068|Autosomal recessive inheritance, Bradycardia, Congestive heart failure, Myocardial fibrosis, Myocarditis
EN-PFC2	YBX1	0.295142416	3.55E-10	Transcription factor	BrainSpLMD|4904	OMIM|154030
EN-PFC2	MORF4L1P1	0.257908985	3.57E-10			
EN-PFC2	CCNI	0.448721183	3.61E-10	Cell cycle control protein	BrainSpLMD|10983	
EN-PFC2	CCDC112	0.324534885	3.65E-10	Unclassified	BrainSpLMD|153733	
EN-PFC2	TTC9	0.800568639	3.71E-10	Unclassified		OMIM|610488
EN-PFC2	SULT4A1	1.11026539	3.88E-10	Enzyme: Sulphotransferase	BrainSpLMD|25830	OMIM|608359
EN-PFC2	ACSL4	1.074187108	4.04E-10	Enzyme: Ligase	BrainSpLMD|2182;Eurexp|euxassay_018901|adrenal gland, basal plate, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, ductus deferens, facial VII, glossopharyngeal IX, hindbrain, liver, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midbrain, midgut, neural retina, nuclear layer, olfactory, pancreas, skeletal muscle, spinal cord, stomach, telencephalon, thoracic, thymus primordium, trigeminal V, vagus X, ventral grey horn, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|300157;HPO|2182|Abnormality of the hair, Anteverted nares, Anxiety, Depressed nasal bridge, Downslanted palpebral fissures, Elliptocytosis, Glomerulopathy, Hearing impairment, Hyperreflexia, Intellectual disability, Intellectual disability, severe, Malar flattening, Microscopic hematuria, Muscular hypotonia, Proteinuria, Renal insufficiency, Tapered finger, Thick vermilion border, Thin vermilion border, X-linked dominant inheritance, X-linked inheritance
EN-PFC2	ERICH1	0.272622588	4.12E-10	Unclassified	BrainSpLMD|157697	
EN-PFC2	FASN	0.572088437	4.24E-10	Enzyme: Synthase	BrainSpLMD|2194;Eurexp|euxassay_018666|cervical, cervico-thoracic, clavicle, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mandible, maxilla, midgut, molar, neural retina, orbito-sphenoid, otic capsule, pancreas, rib, submandibular gland primordium, testis, thoracic, thymus primordium, thyroid, trigeminal V, turbinate, vagus X, vestibulocochlear VIII, vibrissa	OMIM|600212
EN-PFC2	CTNND2	0.611324173	4.32E-10	Adhesion molecule	BrainSpLMD|1501;Eurexp|euxassay_018872|dorsal root ganglion, facial VII, neural retina, trigeminal V	SFARI||Autism, 2 - Strong candidate;OMIM|604275;COSMIC||prostae adenocarcinoma, GIST;HPO|1501|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
EN-PFC2	CDKN2D	1.36274569	4.43E-10	Cell cycle control protein	BrainSpLMD|1032;Eurexp|euxassay_006695|dorsal root ganglion, facial VII, glossopharyngeal IX, left, mantle layer, right, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|600927;HPO|1032|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus
EN-PFC2	SS18L2	0.395898826	4.82E-10	Unclassified	BrainSpLMD|51188;Eurexp|euxassay_007845|Meckel's cartilage, basioccipital bone, clavicle, cricoid, fibula, metatarsus, nasal septum, orbito-sphenoid, otic capsule, rib, submandibular gland primordium, temporal bone, thyroid, tibia, turbinate	OMIM|606473
EN-PFC2	FDPS	0.441212645	5.28E-10	Enzyme: Prenyltransferase	BrainSpLMD|2224;Eurexp|euxassay_005185|adenohypophysis, adrenal gland, axial skeleton, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, limb, liver, lung, mandible, maxilla, mesenchyme, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, paraxial mesenchyme, rectum, retina, skeletal muscle, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|134629;HPO|2224|Cutaneous photosensitivity, Porokeratosis
EN-PFC2	B3GALT2	0.541155001	5.30E-10	Enzyme: Galactosyltransferase	BrainSpLMD|8707;Eurexp|euxassay_011551|axial skeleton, diaphragm, footplate, mantle layer, marginal layer, neural retina, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|26624	OMIM|603018
EN-PFC2	SNHG14	0.353103516	5.41E-10			OMIM|616259
EN-PFC2	KIF3C	0.690975156	5.51E-10	Motor protein	BrainSpLMD|3797;Eurexp|euxassay_010971|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602845
EN-PFC2	MAP4	0.559500232	5.53E-10	Cytoskeletal associated protein	BrainSpLMD|4134	OMIM|157132
EN-PFC2	SGIP1	0.474906188	5.71E-10	Unclassified	BrainSpLMD|84251;Eurexp|euxassay_001827|brain, spinal cord, trigeminal V	OMIM|611540
EN-PFC2	UNC79	0.350099628	5.73E-10	Unclassified	BrainSpLMD|57578	OMIM|616884
EN-PFC2	HSDL1	1.266003087	6.24E-10	Enzyme: Dehydrogenase	BrainSpLMD|83693	
EN-PFC2	DOCK3	1.056488277	6.61E-10	Unclassified	BrainSpLMD|1795	OMIM|603123
EN-PFC2	TNRC6C	0.273362463	6.63E-10	RNA binding protein	BrainSpLMD|57690	OMIM|610741
EN-PFC2	CELF1	0.424453573	6.65E-10	RNA binding protein	BrainSpLMD|10658	OMIM|601074
EN-PFC2	LIN7C	0.521477752	6.82E-10	Unclassified	BrainSpLMD|55327	OMIM|612332
EN-PFC2	ADCY1	1.054648031	7.24E-10	Adenylate cyclase	BrainSpLMD|107;Eurexp|euxassay_014209|facial VII, mantle layer, trigeminal V;BrainSpMouseDev|129123	OMIM|103072;HPO|107|Autosomal recessive inheritance, Prelingual sensorineural hearing impairment
EN-PFC2	CDH11	0.544335403	7.29E-10	Cell junction protein	BrainSpLMD|1009;BrainSpMouseDev|12337	SFARI||Autism, No category;OMIM|600023;COSMIC||aneurysmal bone cyst
EN-PFC2	MRPS21	0.337545828	7.47E-10	Ribosomal subunit	BrainSpLMD|54460	OMIM|611984
EN-PFC2	TTC37	0.30202732	7.51E-10	Unclassified	BrainSpLMD|9652	OMIM|614589;HPO|9652|Abnormality of iron homeostasis, Abnormality of the immune system, Abnormality of the pancreas, Anteverted nares, Autosomal recessive inheritance, Bifid uvula, Brittle hair, Cholestasis, Cirrhosis, Cognitive impairment, Curly hair, Depressed nasal ridge, Diarrhea, Downslanted palpebral fissures, Failure to thrive, Fine hair, Frontal bossing, Galactosuria, Hepatic failure, Hepatic fibrosis, Hepatomegaly, Hypermethioninemia, Hypertelorism, Hypoalbuminemia, Intractable diarrhea, Intrauterine growth retardation, Jaundice, Large placenta, Long philtrum, Low-set ears, Microtia, Narrow mouth, Polyhydramnios, Prominent forehead, Proptosis, Renal cortical microcysts, Short stature, Small for gestational age, Sparse hair, Trichorrhexis nodosa, Underdeveloped supraorbital ridges, Villous atrophy, Wide mouth, Wide nose, Woolly hair
EN-PFC2	MEG3	0.312961436	7.75E-10			OMIM|605636
EN-PFC2	SLC25A4	1.000334666	9.45E-10	Transport/cargo protein	BrainSpLMD|291	OMIM|103220;HPO|291|Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Congenital onset, Cytochrome C oxidase-negative muscle fibers, EMG: myopathic abnormalities, Exercise intolerance, Facial palsy, Generalized hypotonia, Generalized muscle weakness, Heterogeneous, Hypertrophic cardiomyopathy, Hyporeflexia, Lactic acidosis, Multiple mitochondrial DNA deletions, Myalgia, Myopathy, Myopia, Nystagmus, Progressive, Progressive external ophthalmoplegia, Ptosis, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Slow progression, Strabismus, Subsarcolemmal accumulations of abnormally shaped mitochondria
EN-PFC2	ME3	0.733055394	1.05E-09	Enzyme: Oxidoreductase	BrainSpLMD|10873;Eurexp|euxassay_000382|incisor, molar	OMIM|604626
EN-PFC2	TRAPPC2	0.381148934	1.06E-09	Transcription regulatory protein	BrainSpLMD|6399;Eurexp|euxassay_005400|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|300202;HPO|6399|Abnormality of epiphysis morphology, Arthralgia, Barrel-shaped chest, Coxa vara, Disproportionate short stature, Disproportionate short-trunk short stature, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Irregular epiphyses, Kyphosis, Limitation of joint mobility, Lumbar hyperlordosis, Opacification of the corneal stroma, Platyspondyly, Scoliosis, Shield chest, Short femoral neck, Short neck, Short thorax, Spondyloepiphyseal dysplasia, Thoracic kyphosis, Upper limb undergrowth, X-linked recessive inheritance
EN-PFC2	NDUFA5	0.399184912	1.08E-09	Enzyme: Oxidoreductase	BrainSpLMD|4698	SFARI||Autism, 4 - Minimal evidence;OMIM|601677
EN-PFC2	GAS7	0.607531957	1.09E-09	Unclassified	BrainSpLMD|8522;Eurexp|euxassay_001801|mantle layer, marginal layer	OMIM|603127;COSMIC||AML*
EN-PFC2	GRB2	0.371426527	1.10E-09	Adapter molecule	BrainSpLMD|2885	OMIM|108355
EN-PFC2	NLN	0.391452972	1.11E-09	Metallo protease	BrainSpLMD|57486	OMIM|611530
EN-PFC2	FGF13	0.591916363	1.12E-09	Growth factor	BrainSpLMD|2258	OMIM|300070
EN-PFC2	ATL1	0.296858428	1.12E-09	GTPase	BrainSpLMD|51062	OMIM|606439;HPO|51062|Adult onset, Autoamputation, Autosomal dominant inheritance, Babinski sign, Degeneration of the lateral corticospinal tracts, Distal amyotrophy, Distal lower limb amyotrophy, Distal sensory impairment, Distal sensory loss of all modalities, Heterogeneous, Hyperreflexia, Impaired vibration sensation in the lower limbs, Incomplete penetrance, Insidious onset, Lower limb muscle weakness, Motor delay, Nail dysplasia, Nail dystrophy, Paraplegia, Paresthesia, Peripheral axonal neuropathy, Pes cavus, Progressive, Scoliosis, Spastic gait, Spastic paraplegia, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency, Variable expressivity
EN-PFC2	NDUFB9	0.352039198	1.13E-09	Enzyme: Oxidoreductase	BrainSpLMD|4715	OMIM|601445;HPO|4715|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
EN-PFC2	PPP2R2C	1.099756788	1.16E-09	Serine/threonine phosphatase	BrainSpLMD|5522	OMIM|605997
EN-PFC2	TBC1D24	0.25002469	1.19E-09	Unclassified	BrainSpLMD|57465;Eurexp|euxassay_010949|brain, dorsal root ganglion, facial VII, liver, mesenchyme, neural retina, olfactory, retina, spinal cord, vestibulocochlear VIII	OMIM|613577;HPO|57465|Aggressive behavior, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Developmental regression, EEG with irregular generalized spike and wave complexes, Generalized myoclonic seizures, Global developmental delay, Hearing impairment, Intellectual disability, mild, Irritability, Mental deterioration, Myoclonus, Progressive hearing impairment, Slow progression
EN-PFC2	LINGO1	0.374628207	1.20E-09	Unclassified	BrainSpLMD|84894	OMIM|609791
EN-PFC2	TMEM57	0.413289043	1.20E-09			
EN-PFC2	C9orf78	0.472691281	1.23E-09	Unclassified	BrainSpLMD|51759	
EN-PFC2	SNX7	0.415922358	1.36E-09	Unclassified	BrainSpLMD|51375	OMIM|614904
EN-PFC2	UBE2N	0.25463839	1.41E-09	Ubiquitin proteasome system protein	BrainSpLMD|7334	OMIM|603679
EN-PFC2	SOX12	0.862352773	1.42E-09	Transcription factor	BrainSpLMD|6666;Eurexp|euxassay_019555|facial VII, glossopharyngeal IX, neural retina, trigeminal V;BrainSpMouseDev|20429	OMIM|601947
EN-PFC2	ZNF706	0.581540069	1.48E-09	DNA binding protein	BrainSpLMD|51123	
EN-PFC2	UBE2D4	0.449293683	1.62E-09	Ubiquitin proteasome system protein	BrainSpLMD|51619	
EN-PFC2	TOX	1.127378221	1.65E-09	DNA binding protein	BrainSpLMD|9760;Eurexp|euxassay_006612|axial skeleton, cervical, cervico-thoracic, clavicle, cricoid, diencephalon, exoccipital bone, femur, hindbrain, inner ear, lip, lung, mandible, mantle layer, mesenchyme, metanephros, metatarsus, midbrain, nasal septum, neural retina, orbito-sphenoid, pelvic girdle, penis, phalanx, rib, scapula, stomach, telencephalon, thoracic, thymus primordium, thyroid, turbinate, vault of skull, vibrissa, vomeronasal organ;BrainSpMouseDev|89963	OMIM|606863
EN-PFC2	XPR1	0.558957114	1.80E-09	Integral membrane protein	BrainSpLMD|9213;Eurexp|euxassay_010259|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII	OMIM|605237;HPO|9213|Abnormality of neuronal migration, Adult onset, Autosomal dominant inheritance, Basal ganglia calcification, Cerebral calcification, Choreoathetosis, Corneal opacity, Dementia, Depressivity, Dysarthria, Hepatomegaly, Intrauterine growth retardation, Memory impairment, Microcephaly, Parkinsonism, Progressive, Seizures, Subcutaneous hemorrhage, Thrombocytopenia, Ventriculomegaly
EN-PFC2	SFXN3	0.806446408	2.01E-09	Integral membrane protein	BrainSpLMD|81855	OMIM|615571
EN-PFC2	HINT1	0.290439043	2.02E-09	ATPase	BrainSpLMD|3094	OMIM|601314;HPO|3094|Abnormality of the foot, Autosomal recessive inheritance, Distal sensory impairment, Elevated serum creatine phosphokinase, Fasciculations, Foot dorsiflexor weakness, Hyperhidrosis, Muscle cramps, Muscle stiffness, Myokymia, Myotonia, Progressive, Sensory axonal neuropathy, Skeletal muscle atrophy
EN-PFC2	NDUFB8	0.253002012	2.05E-09	Enzyme: Oxidoreductase	BrainSpLMD|4714	OMIM|602140
EN-PFC2	MYL6B	0.36326278	2.13E-09	Structural protein	BrainSpLMD|140465;Eurexp|euxassay_005932|brain, diaphragm, mesenchyme, paraxial mesenchyme, skeletal muscle, spinal cord, vertebral axis muscle system	OMIM|609930
EN-PFC2	ANKRD46	0.874806775	2.15E-09	Integral membrane protein	BrainSpLMD|157567;Eurexp|euxassay_007253|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	
EN-PFC2	GTDC1	0.531896227	2.17E-09	Enzyme: Glycosyltransferase	BrainSpLMD|79712;Eurexp|euxassay_005120|brain, marginal layer, spinal cord	OMIM|610165
EN-PFC2	FMN2	0.61480201	2.28E-09	Cytoskeletal associated protein	BrainSpLMD|56776	OMIM|606373;HPO|56776|Autosomal recessive inheritance, Global developmental delay, Infantile onset, Intellectual disability, Poor speech
EN-PFC2	COX7B	0.295986515	2.39E-09	Enzyme: Oxidase	BrainSpLMD|1349	OMIM|300885;HPO|1349|Abnormal facial shape, Abnormality of retinal pigmentation, Abnormality of the cardiac septa, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Anophthalmia, Aplasia cutis congenita, Arrhythmia, Congenital diaphragmatic hernia, Dermal atrophy, Dilated cardiomyopathy, Erythema, Global developmental delay, Hyperpigmentation of the skin, Hypertelorism, Hypertrophic cardiomyopathy, Hypopigmented skin patches, Mandibular aplasia, Microcephaly, Micrognathia, Microphthalmia, Midface retrusion, Retrognathia, Sclerocornea, Severe short stature, Short chin, Short stature, Vitritis, Wide nasal bridge, Wide nose, X-linked dominant inheritance
EN-PFC2	GRM5	1.927683445	2.42E-09	G protein coupled receptor	BrainSpLMD|2915;Eurexp|euxassay_016595|mantle layer;BrainSpMouseDev|72233	SFARI||Autism, No category;OMIM|604102
EN-PFC2	STXBP5	0.388015607	2.44E-09	Transport/cargo protein	BrainSpLMD|134957	SFARI||Autism, 3 - Suggestive evidence;OMIM|604586
EN-PFC2	SMG1P2	0.377163477	2.47E-09			
EN-PFC2	PWAR6	0.625169718	2.51E-09			
EN-PFC2	DNM3	0.85265882	2.75E-09	GTPase	BrainSpLMD|26052	OMIM|611445
EN-PFC2	WNK3	0.471907325	2.78E-09	Serine/threonine kinase	BrainSpLMD|65267	SFARI||Autism, 4 - Minimal evidence;OMIM|300358
EN-PFC2	GFOD1	0.651838066	2.89E-09	Enzyme: Oxidoreductase	BrainSpLMD|54438	
EN-PFC2	HOMER2	0.7434101	2.94E-09	Unclassified	BrainSpLMD|9455;Eurexp|euxassay_009975|dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, mantle layer, marginal layer, olfactory, right lung, trigeminal V, vagus X, ventral grey horn, vomeronasal organ	OMIM|604799;HPO|9455|Autosomal dominant inheritance
EN-PFC2	ARGLU1	0.294091342	3.02E-09	Unclassified	BrainSpLMD|55082;Eurexp|euxassay_001755|choroid plexus, lateral recess	OMIM|614046
EN-PFC2	RNF24	0.373120868	3.11E-09	Transcription factor	BrainSpLMD|11237	OMIM|612489
EN-PFC2	ZMIZ2	0.442247026	3.16E-09	Transcription regulatory protein	BrainSpLMD|83637;Eurexp|euxassay_007158|cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, left lung, midbrain, neural retina, oesophagus, olfactory, respiratory, respiratory tract, right lung, spinal cord, submandibular gland primordium, telencephalon, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|611196
EN-PFC2	OPTN	0.435171352	3.17E-09	Transcription regulatory protein	BrainSpLMD|10133;Eurexp|euxassay_018492|embryo	OMIM|602432;HPO|10133|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dysarthria, Dysphagia, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Muscle weakness, Myopia, Neurodegeneration, Open angle glaucoma, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Tongue fasciculations, Xerostomia
EN-PFC2	PAK7	0.340449375	3.26E-09			
EN-PFC2	LRRC8B	0.613818072	3.30E-09	Integral membrane protein	BrainSpLMD|23507	OMIM|612888
EN-PFC2	FAM32A	0.548221879	3.61E-09	Unclassified	BrainSpLMD|26017	OMIM|614554
EN-PFC2	WWC1	0.329225194	3.65E-09	Unclassified	BrainSpLMD|23286	OMIM|610533
EN-PFC2	BLOC1S3	0.326484477	3.80E-09	Unclassified	BrainSpLMD|388552	OMIM|609762;HPO|388552|Albinism, Autosomal recessive inheritance, Bruising susceptibility, Ocular albinism, Visual impairment
EN-PFC2	CTTNBP2	0.271491332	3.80E-09	Unclassified	BrainSpLMD|83992;Eurexp|euxassay_015493|dorsal grey horn, limb, mantle layer, penis, thalamus;BrainSpMouseDev|29776	SFARI||Autism, 3 - Suggestive evidence;OMIM|609772
EN-PFC2	RNF2	0.410060713	3.82E-09	Ubiquitin proteasome system protein	BrainSpLMD|6045	OMIM|608985
EN-PFC2	GDI1	0.501095546	3.83E-09	GTPase activating protein	BrainSpLMD|2664;Eurexp|euxassay_004022|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|300104;HPO|2664|Generalized hypotonia, Global developmental delay, Intellectual disability, X-linked dominant inheritance, X-linked inheritance
EN-PFC2	FSTL5	1.371544678	3.85E-09	Extracellular matrix protein	BrainSpLMD|56884	
EN-PFC2	C14orf2	0.292990736	3.93E-09			
EN-PFC2	GABRB3	0.539730095	4.03E-09	Extracellular ligand gated channel	BrainSpLMD|2562;Eurexp|euxassay_008367|brain, facial VII, glossopharyngeal IX, mandible, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|14178	SFARI||Autism, 2 - Strong candidate;OMIM|137192;HPO|2562|Abnormality of brainstem morphology, Aggressive behavior, Ataxia, Atonic seizures, Atypical absence seizures, Autistic behavior, Autosomal dominant inheritance, Dyskinesia, EEG with focal sharp slow waves, Encephalopathy, Epileptic encephalopathy, Falls, Generalized hypotonia, Generalized tonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Hyperactivity, Infantile onset, Intellectual disability, Mental deterioration, Myoclonus, Personality disorder, Seizures
EN-PFC2	SLC30A4	0.817716835	4.26E-09	Transport/cargo protein	BrainSpLMD|7782;Eurexp|euxassay_019696|mantle layer	OMIM|602095
EN-PFC2	MORF4	0.258415101	4.78E-09	Transcription factor		OMIM|116960
EN-PFC2	MYO5A	0.529789566	5.12E-09	Structural protein	BrainSpLMD|4644;Eurexp|euxassay_015107|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|160777;COSMIC||Spitzoid tumour, Griscelli syndrome;HPO|4644|Abnormality of movement, Accumulation of melanosomes in melanocytes, Ataxia, Autosomal recessive inheritance, Diplopia, Generalized hypotonia, Global developmental delay, Hyperlipidemia, Hypertonia, Hypopigmentation of hair, Hypopigmentation of the skin, Infantile onset, Intellectual disability, Iris hypopigmentation, Melanin pigment aggregation in hair shafts, Muscular hypotonia, Myopia, Nystagmus, Partial albinism, Premature graying of hair, Retinopathy, Seizures, Silver-gray hair, Specific learning disability, Tremor, White hair
EN-PFC2	CACNB4	0.644683309	5.77E-09	Voltage gated channel	BrainSpLMD|785;Eurexp|euxassay_010369|marginal layer	OMIM|601949;HPO|785|Autosomal dominant inheritance, Dysarthria, Episodic ataxia, Gaze-evoked nystagmus, Incomplete penetrance, Vertigo
EN-PFC2	FAM192A	0.438142027	6.88E-09	Unclassified	BrainSpLMD|80011;Eurexp|euxassay_004902|adenohypophysis, brain, glossopharyngeal IX, incisor, lung, metanephros, molar, olfactory, respiratory, retina, spinal cord, submandibular gland primordium, thymus primordium, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|617766
EN-PFC2	ATP6V0E2	0.693922612	7.38E-09	ATPase	BrainSpLMD|155066;Eurexp|euxassay_009946|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611019
EN-PFC2	HIP1R	0.373717568	7.39E-09	Cytoskeletal associated protein	BrainSpLMD|9026;Eurexp|euxassay_012046|basisphenoid bone, clavicle, dorsal root ganglion, epidermis, epithelium, exoccipital bone, facial VII, fibula, fundus region, glossopharyngeal IX, incisor, larynx, lobe, mantle layer, metanephros, metatarsus, midgut, molar, naris, neural retina, oesophagus, olfactory, orbito-sphenoid, pancreas, petrous part, pharyngo-tympanic tube, pituitary, rectum, rib, stomach, submandibular gland primordium, tarsus, temporal bone, thymus primordium, thyroid, tibia, trachea, trigeminal V, turbinate, urethra, vibrissa	OMIM|605613
EN-PFC2	UBE2E3	0.588963375	7.67E-09	Ubiquitin proteasome system protein	BrainSpLMD|10477	OMIM|604151
EN-PFC2	RP11.806K15.1	0.377897732	7.94E-09			
EN-PFC2	TTC39C	0.268933763	8.02E-09	Unclassified	BrainSpLMD|125488;Eurexp|euxassay_007378|anterior, brain, clavicle, dorsal root ganglion, external, facial VII, glossopharyngeal IX, medulla, primitive seminiferous tubules, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	
EN-PFC2	ACVR1B	0.501159778	8.06E-09	Receptor serine/threonine kinase	BrainSpLMD|91;Eurexp|euxassay_007715|anterior, brain, dorsal root ganglion, external, facial VII, glossopharyngeal IX, incisor, midgut, molar, neural retina, oesophagus, olfactory, rectum, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|11267	OMIM|601300
EN-PFC2	PSD3	0.875560698	8.27E-09	Guanine nucleotide exchange factor	BrainSpLMD|23362	SFARI||Autism, 4 - Minimal evidence;OMIM|614440
EN-PFC2	PLEKHA5	0.287380634	8.62E-09	Adapter molecule	BrainSpLMD|54477;Eurexp|euxassay_005649|basal plate, calyces, cervical, cervico-thoracic, cochlear component, dorsal root ganglion, facial VII, glossopharyngeal IX, inferior, intraventricular portion, mantle layer, metanephros, pelvis, stomach, superior, thoracic, trigeminal V, vagus X, vestibular component	OMIM|607770
EN-PFC2	TCEAL5	0.670910947	9.32E-09	Transcription regulatory protein		
EN-PFC2	SOGA1	0.329217518	9.34E-09	Unclassified	BrainSpLMD|140710	
EN-PFC2	TMEM200C	0.969994834	9.75E-09	Unclassified		
EN-PFC2	IDI1	0.401829909	9.80E-09	Enzyme: Isomerase	BrainSpLMD|3422;Eurexp|euxassay_011601|adrenal gland, cervical, cervico-thoracic, clavicle, cortex, dorsal root ganglion, glossopharyngeal IX, hindgut, incisor, lobe, mandible, mantle layer, maxilla, midgut, molar, neural retina, olfactory, orbito-sphenoid, pancreas, rectum, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ	OMIM|604055
EN-PFC2	DPYD	0.33688878	1.07E-08	Enzyme: Dehydrogenase	Eurexp|euxassay_000078|Meckel's cartilage, alar plate, alveolar sulcus, cerebellum, cerebral cortex, choroid plexus, cranial muscle, dorsal root ganglion, epithelium, gut, hypothalamus, incisor, inner ear, internal sphincter, labyrinth, lamina terminalis, lateral wall, lower jaw, lumen, lung, mantle layer, marginal layer, masseter, meatus, mesenchyme, metanephros, metencephalon, midbrain, nasal cavity, neurohypophysis, nucleus pulposus, oesophagus, olfactory, ossicle, otic capsule, pectoral girdle and thoracic body wall, pelvic girdle, rest of cerebellum, retina, salivary gland, skeletal muscle, sublingual gland primordium, thalamus, thymus primordium, thyroid, tubo-tympanic recess, turbinate bones, urorectal septum, vagus X, ventricular layer, vertebral axis muscle system, vestibular component, vibrissa, vomeronasal organ	SFARI||Autism, 4 - Minimal evidence;OMIM|612779;HPO|1806|Abnormal eating behavior, Abnormality of vision, Astigmatism, Autism, Autistic behavior, Autosomal recessive inheritance, Broad nasal tip, Cerebral atrophy, Coloboma, Deeply set eye, Delayed speech and language development, Failure to thrive, Full cheeks, Generalized hypotonia, Global developmental delay, Growth delay, Hyperactivity, Hypertonia, Intellectual disability, Intellectual disability, mild, Lethargy, Long ear, Macrocephaly, Microcephaly, Microphthalmia, Motor delay, Myopia, Nystagmus, Obesity, Optic atrophy, Phenotypic variability, Reduced dihydropyrimidine dehydrogenase activity, Seizures, Short nose, Shyness, Tetraplegia, Upslanted palpebral fissure
EN-PFC2	RNU6.457P	1.375401784	1.09E-08			
EN-PFC2	CAP2	0.736007327	1.10E-08	Unclassified	BrainSpLMD|10486;Eurexp|euxassay_002560|diaphragm, head mesenchyme, marginal layer, tongue, vertebral axis muscle system	
EN-PFC2	MORN4	0.602339846	1.10E-08	Unclassified	BrainSpLMD|118812;Eurexp|euxassay_007046|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|617736
EN-PFC2	KIF1A	0.410399428	1.10E-08	Motor protein	BrainSpLMD|547;Eurexp|euxassay_016778|alar plate, basal plate, cerebellum, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601255;HPO|547|Abnormal cortical bone morphology, Abnormality of epiphysis morphology, Abnormality of eye movement, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of the ankles, Abnormality of the eye, Abnormality of the hip bone, Abnormality of the knee, Abnormality of the palate, Abnormality of upper lip, Acral ulceration leading to autoamputation of digits, Anhidrosis, Ankle clonus, Anteverted nares, Areflexia, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Biparietal narrowing, Cerebellar atrophy, Cerebral cortical atrophy, Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Decreased taste sensation, Drowsiness, Dysmetria, Dystrophic fingernails, Dystrophic toenail, Edema of the lower limbs, Epicanthus, Episodic hyperhidrosis, External ear malformation, Feeding difficulties, Feeding difficulties in infancy, Foot acroosteolysis, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hydrocephalus, Hyperhidrosis, Hyperlordosis, Hyperreflexia, Hyporeflexia, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, severe, Limitation of joint mobility, Lower limb amyotrophy, Lower limb muscle weakness, Lower limb spasticity, Macrotia, Malar flattening, Microcephaly, Midface retrusion, Open mouth, Optic atrophy, Osteolytic defects of the phalanges of the hand, Painless fractures due to injury, Palpebral edema, Paronychia, Peripheral axonal neuropathy, Peripheral edema, Peripheral neuropathy, Porencephalic cyst, Progressive, Recurrent respiratory infections, Reduced bone mineral density, Severe muscular hypotonia, Short nose, Skeletal muscle atrophy, Slow progression, Spastic gait, Spastic paraplegia, Tapered finger, Urinary bladder sphincter dysfunction, Variable expressivity, Ventriculomegaly, Visual loss, Wormian bones
EN-PFC2	CDC42	0.262818641	1.15E-08	GTPase	BrainSpLMD|998;BrainSpMouseDev|12325	OMIM|116952
EN-PFC2	CBWD2	0.326149471	1.24E-08	Unclassified		OMIM|611079
EN-PFC2	PLXNA1	0.491581351	1.25E-08	Cell surface receptor	BrainSpLMD|5361;BrainSpMouseDev|18608	OMIM|601055
EN-PFC2	FAM124A	0.781363774	1.26E-08	Unclassified	BrainSpLMD|220108	
EN-PFC2	BAG4	0.405752172	1.26E-08	Adapter molecule	BrainSpLMD|9530;Eurexp|euxassay_008224|naris, oesophagus, olfactory, pituitary, tongue, urethra, ventricle	OMIM|603884
EN-PFC2	CPEB4	0.629298391	1.28E-08	RNA binding protein	BrainSpLMD|80315	OMIM|610607
EN-PFC2	PPA1	0.482181077	1.42E-08	Enzyme: Phosphohydrolase	BrainSpLMD|5464;Eurexp|euxassay_004470|bladder, cranium, forelimb, hindlimb, incisor, lung, mandible, maxilla, mesenchyme, metanephros, midgut, nasal septum, olfactory, orbito-sphenoid, palatal shelf, pancreas, respiratory, submandibular gland primordium, tail, turbinate bones, vibrissa	OMIM|179030
EN-PFC2	PALMD	0.731582268	1.43E-08	Unclassified	BrainSpLMD|54873	OMIM|610182
EN-PFC2	RTN3P1	0.571595685	1.48E-08			
EN-PFC2	GNAZ	0.620010235	1.49E-08	G protein	BrainSpLMD|2781;Eurexp|euxassay_001214|dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|139160
EN-PFC2	CCDC167	0.513781168	1.60E-08	Unclassified		
EN-PFC2	PKIG	0.331957244	1.65E-08	Enzyme regulator;Regulatory/other subunit	BrainSpLMD|11142;Eurexp|euxassay_010432|tongue, vertebral axis muscle system	OMIM|604932
EN-PFC2	LPPR2	1.417060322	1.70E-08			
EN-PFC2	BCL6	0.482123265	1.71E-08	Transcription factor	BrainSpLMD|604;BrainSpMouseDev|11839	OMIM|109565;COSMIC||NHL, CLL;HPO|604|Fatigue, Fever, Lymphoma, Mediastinal lymphadenopathy, Night sweats, Splenomegaly, Weight loss
EN-PFC2	AC004158.3	0.322303333	1.80E-08			
EN-PFC2	NEBL	1.034662859	1.89E-08	Cytoskeletal associated protein	BrainSpLMD|10529	OMIM|605491;HPO|10529|Dilated cardiomyopathy
EN-PFC2	NHP2	0.437758458	1.92E-08	Ribonucleoprotein	Eurexp|euxassay_002168|axial muscle, orbito-sphenoid	OMIM|606470;HPO|55651|Abnormal blistering of the skin, Abnormality of coagulation, Abnormality of female internal genitalia, Abnormality of neutrophils, Abnormality of the fingernails, Abnormality of the pharynx, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic anemia, Aplastic/hypoplastic toenail, Autosomal recessive inheritance, Bone marrow hypocellularity, Carious teeth, Cellular immunodeficiency, Cirrhosis, Esophageal stenosis, Esophageal stricture, Global developmental delay, Growth delay, Hepatic fibrosis, Hyperhidrosis, Hypermelanotic macule, Hyperpigmentation of the skin, Hypodontia, Hypopigmented skin patches, Increased lacrimation, Intellectual disability, Intrauterine growth retardation, Malabsorption, Microcephaly, Microdontia, Nail dysplasia, Nail dystrophy, Nasolacrimal duct obstruction, Oral leukoplakia, Osteoporosis, Pancytopenia, Periodontitis, Phenotypic variability, Pterygium of nails, Pulmonary fibrosis, Recurrent fractures, Recurrent respiratory infections, Reticulated skin pigmentation, Rough bone trabeculation, Short stature, Skin ulcer, Small nail, Sparse eyelashes, Sparse hair, Sparse scalp hair, Taurodontia, Telangiectasia of the skin, Testicular atrophy, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis
EN-PFC2	FKBP1B	0.796141197	1.95E-08	Enzyme: Isomerase		OMIM|600620
EN-PFC2	RP11.345J4.5	0.645489233	1.98E-08			
EN-PFC2	BEX1	0.289554677	2.20E-08	Unclassified	BrainSpLMD|55859;Eurexp|euxassay_009948|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, metanephros, midgut, neural retina, olfactory, pancreas, paraxial mesenchyme, primitive seminiferous tubules, rest of mesenchyme, right lung, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|300690
EN-PFC2	IDS	0.410404036	2.28E-08	Enzyme: Sulphohydrolase	BrainSpLMD|3423	OMIM|300823;HPO|3423|Abnormality of retinal pigmentation, Abnormality of the heart valves, Asthma, Cervical cord compression, Coarse facial features, Congestive heart failure, Delayed eruption of teeth, Dermatan sulfate excretion in urine, Diarrhea, Dysostosis multiplex, Flexion contracture, Hearing impairment, Heparan sulfate excretion in urine, Hepatomegaly, Hoarse voice, Hydrocephalus, Hypertrichosis, Inguinal hernia, Intellectual disability, profound, Intestinal pseudo-obstruction, Kyphosis, Macrocephaly, Macroglossia, Mild short stature, Neurodegeneration, Obstructive sleep apnea, Papilledema, Pes cavus, Ptosis, Recurrent otitis media, Scaphocephaly, Seizures, Severe short stature, Short neck, Short stature, Splenomegaly, Split hand, Thick lower lip vermilion, Tracheobronchomalacia, Umbilical hernia, Widely spaced teeth, X-linked recessive inheritance
EN-PFC2	GNG4	0.74523015	2.32E-08	G protein	BrainSpLMD|2786	OMIM|604388
EN-PFC2	ZNF300	0.631090052	2.56E-08	DNA binding protein	BrainSpLMD|91975	OMIM|612429
EN-PFC2	MCTS1	0.641362066	2.58E-08	Cell cycle control protein	BrainSpLMD|28985	OMIM|300587
EN-PFC2	GPD1L	1.2063053	2.59E-08	Unclassified	BrainSpLMD|23171;Eurexp|euxassay_012850|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	OMIM|611778;HPO|23171|Autosomal dominant inheritance, First degree atrioventricular block, Right bundle branch block, Syncope, Ventricular fibrillation
EN-PFC2	TENM1	0.725537767	2.60E-08	Integral membrane protein	BrainSpLMD|10178	OMIM|300588
EN-PFC2	FBXL2	0.76422265	2.64E-08	Ubiquitin proteasome system protein	BrainSpLMD|25827;Eurexp|euxassay_015900|dorsal root ganglion, glossopharyngeal IX, trigeminal V	OMIM|605652
EN-PFC2	FHL1	0.56150483	2.76E-08	Unclassified	BrainSpLMD|2273;Eurexp|euxassay_018418|bladder, brain, diaphragm, dorsal root ganglion, head mesenchyme, limb, penis, rectum, spinal cord, tongue, vertebral axis muscle system	OMIM|300163;HPO|2273|Adult onset, Areflexia, Arrhythmia, Back pain, Elevated serum creatine phosphokinase, Flexion contracture, Foot dorsiflexor weakness, Frequent falls, Hyperlordosis, Hypertrophic cardiomyopathy, Hyporeflexia, Increased variability in muscle fiber diameter, Kyphosis, Lower limb muscle weakness, Myofibrillar myopathy, Progressive, Proximal muscle weakness, Rapidly progressive, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Rimmed vacuoles, Scapular winging, Scapuloperoneal myopathy, Scapuloperoneal weakness, Scoliosis, Short neck, Skeletal muscle atrophy, Spinal rigidity, Steppage gait, Waddling gait, X-linked dominant inheritance, X-linked inheritance, X-linked recessive inheritance
EN-PFC2	NEUROG2	1.555481005	2.85E-08	Transcription factor	BrainSpLMD|63973;Eurexp|euxassay_017863|lateral wall, mantle layer, neural retina, roof plate, ventricular layer;BrainSpMouseDev|11710	OMIM|606624
EN-PFC2	JAKMIP1	0.994341089	2.85E-08	Adapter molecule	BrainSpLMD|152789	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611195
EN-PFC2	6-Sep	0.775768821	2.86E-08			
EN-PFC2	CS	0.521516739	3.00E-08	Enzyme: Acyltransferase	BrainSpLMD|1431	OMIM|118950
EN-PFC2	SLC16A7	0.709854865	3.09E-08	Membrane transport protein	Eurexp|euxassay_000705|dorsal root ganglion, facial VII, inferior, stomach, superior, trigeminal V, vagus X, vestibular component	SFARI||Autism, 5 - Hypothesized but untested;OMIM|603654
EN-PFC2	ABHD2	0.571173362	3.15E-08	Enzyme: Hydrolase	BrainSpLMD|11057;Eurexp|euxassay_002585|adrenal gland, choroid plexus, cochlea, dorsal root ganglion, lateral recess, lung, naris, neural retina, olfactory, penis, respiratory, stomach, stroma, submandibular gland primordium, trigeminal V, vestibulocochlear VIII	OMIM|612196
EN-PFC2	KLHL2	0.667902214	3.18E-08	Cytoskeletal associated protein	BrainSpLMD|11275	OMIM|605774
EN-PFC2	LMO7	0.890862777	3.41E-08	Transcription regulatory protein	BrainSpLMD|4008	OMIM|604362
EN-PFC2	GTF2H5	0.44934446	3.68E-08	Transcription factor	BrainSpLMD|404672;Eurexp|euxassay_003129|cervical, cervico-thoracic, chondrocranium, clavicle, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, marginal layer, oesophagus, olfactory, oral epithelium, pancreas, submandibular gland primordium, thoracic, thymus primordium, tooth, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42310	OMIM|608780;HPO|404672|Asthma, Autosomal recessive inheritance, Brittle hair, Cataract, Congenital nonbullous ichthyosiform erythroderma, Decreased fertility, Erythroderma, Intellectual disability, Joint contracture of the hand, Short stature, Tiger tail banding
EN-PFC2	DOK5	0.513977402	3.75E-08	Adapter molecule	BrainSpLMD|55816	OMIM|608334
EN-PFC2	LRRN3	0.67346993	3.85E-08	Integral membrane protein	BrainSpLMD|54674;Eurexp|euxassay_015911|cervical, cervico-thoracic, ear, facial VII, glossopharyngeal IX, lip, mantle layer, marginal layer, medulla, neural retina, olfactory, pituitary, stomach, thoracic, trachea, trigeminal V, ventral grey horn, vestibular component, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16751	
EN-PFC2	C20orf96	0.392618558	3.95E-08	Unclassified	BrainSpLMD|140680	
EN-PFC2	HDAC9	0.262891768	4.08E-08	Transcription regulatory protein	BrainSpLMD|9734	OMIM|606543
EN-PFC2	SMS	0.606582486	4.15E-08	Enzyme: Synthase	Eurexp|euxassay_011541|cervical, cervico-thoracic, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, incisor, left lung, mantle layer, metanephros, molar, neural retina, right lung, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|300105;HPO|6611|Abnormality of the pinna, Bifid uvula, Broad-based gait, Cleft palate, Cryptorchidism, Decreased muscle mass, Dental crowding, Dysarthria, Facial asymmetry, Generalized hypotonia, High, narrow palate, Hyperextensibility of the finger joints, Hypertelorism, Intellectual disability, Kyphoscoliosis, Long fingers, Long hallux, Long palm, Mandibular prognathia, Narrow palm, Nasal speech, Osteoporosis, Pectus carinatum, Pectus excavatum, Phenotypic variability, Recurrent fractures, Seizures, Severe Myopia, Short philtrum, Short stature, Talipes equinovarus, Tall stature, Thick lower lip vermilion, Webbed neck, Wide intermamillary distance, X-linked recessive inheritance
EN-PFC2	ZNF286B	0.31195149	4.27E-08	Unclassified		
EN-PFC2	BOLA3.AS1	1.310545629	4.38E-08			
EN-PFC2	LPPR5	0.362466109	4.50E-08			
EN-PFC2	ATP5E	0.493363416	4.54E-08			
EN-PFC2	VLDLR.AS1	1.291247123	4.67E-08			
EN-PFC2	RALGPS1	0.407478916	4.69E-08	Guanine nucleotide exchange factor	BrainSpLMD|9649	OMIM|614444
EN-PFC2	USP31	0.688165372	5.27E-08	Ubiquitin proteasome system protein	BrainSpLMD|57478	
EN-PFC2	SEC61A2	0.289034105	5.41E-08	Integral membrane protein	BrainSpLMD|55176	
EN-PFC2	AMER3	0.94227061	5.49E-08	Unclassified	BrainSpLMD|205147	
EN-PFC2	ADCYAP1R1	0.720174054	5.61E-08	G protein coupled receptor	BrainSpLMD|117;Eurexp|euxassay_009317|brain, cervical, cervico-thoracic, medulla, mesenchyme, midgut, oesophagus, spinal cord, stomach, thoracic, tongue, trigeminal V, ventricle, ventricular layer;BrainSpMouseDev|11304	OMIM|102981
EN-PFC2	TUB	0.57514087	5.88E-08	Transcription regulatory protein	BrainSpLMD|7275	OMIM|601197;HPO|7275|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Astigmatism, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Myopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal dystrophy, Sensorineural hearing impairment, Visual impairment, Wide nasal bridge
EN-PFC2	NRCAM	0.724014896	5.92E-08	Adhesion molecule	BrainSpLMD|4897;BrainSpMouseDev|106439	SFARI||Autism, 4 - Minimal evidence;OMIM|601581
EN-PFC2	MAGI2	0.301020682	5.94E-08	Unclassified	BrainSpLMD|9863	OMIM|606382
EN-PFC2	ACTL6B	0.643830656	6.06E-08	Structural protein	BrainSpLMD|51412;Eurexp|euxassay_005177|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612458
EN-PFC2	PIANP	0.881934282	6.43E-08	Unclassified	BrainSpLMD|196500	OMIM|616065
EN-PFC2	CADM2	0.706550442	6.43E-08	Adhesion molecule	BrainSpLMD|253559;Eurexp|euxassay_011528|basioccipital bone, femur, humerus, mantle layer, midbrain, orbito-sphenoid, pelvic girdle, petrous part, scapula, trigeminal V, turbinate	SFARI||Autism, No category;OMIM|609938
EN-PFC2	FAM155A.IT1	1.129723326	6.78E-08			
EN-PFC2	NUDCD3	0.632014552	6.85E-08	Unclassified	BrainSpLMD|23386	OMIM|610296
EN-PFC2	HK1	0.775410864	6.86E-08	Enzyme: Sugar phosphotransferase	BrainSpLMD|3098	OMIM|142600;HPO|3098|Abnormality of the foot, Abnormality of the hand, Autosomal dominant inheritance, Autosomal recessive inheritance, Axonal regeneration, Cholecystitis, Cholelithiasis, Congenital onset, Constriction of peripheral visual field, Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers, Difficulty walking, Distal muscle weakness, Hyperbilirubinemia, Hyporeflexia, Jaundice, Macular atrophy, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Nyctalopia, Optic disc pallor, Peripheral hypomyelination, Peripheral neuropathy, Photophobia, Progressive, Reduced visual acuity, Reticulocytosis, Splenomegaly
EN-PFC2	LARGE	0.959248514	7.20E-08			
EN-PFC2	NRSN2	0.28561838	7.23E-08	Unclassified	BrainSpLMD|80023	OMIM|610666
EN-PFC2	SERINC3	0.722873128	7.57E-08	Integral membrane protein	BrainSpLMD|10955;Eurexp|euxassay_004869|dorsal root ganglion, facial VII, glossopharyngeal IX, left, mandible, maxilla, medulla, orbito-sphenoid, right, testis, thymus primordium, trigeminal V	OMIM|607165
EN-PFC2	FAM45A	0.57432154	7.59E-08	Unclassified		
EN-PFC2	POLR2E	0.372243439	7.74E-08	RNA polymerase	BrainSpLMD|5434;Eurexp|euxassay_011641|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|180664
EN-PFC2	FAM126A	0.343441599	7.90E-08	Unclassified	BrainSpLMD|84668;Eurexp|euxassay_013806|olfactory, ventricular layer	OMIM|610531;HPO|84668|Abnormal pyramidal signs, Abnormality of the cerebellum, Autosomal recessive inheritance, Babinski sign, Cerebral hypomyelination, Cerebral white matter atrophy, Congenital cataract, Decreased motor nerve conduction velocity, Dysarthria, Global developmental delay, Hyperreflexia, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intention tremor, Leukodystrophy, Loss of ability to walk, Lower limb amyotrophy, Lower limb muscle weakness, Motor delay, Muscular hypotonia of the trunk, Polyneuropathy, Scoliosis, Seizures, Truncal titubation, Variable expressivity
EN-PFC2	TRIM16L	0.837634424	8.09E-08	Unclassified		
EN-PFC2	EPS15	0.469977864	8.22E-08	Calcium binding protein	BrainSpLMD|2060;Eurexp|euxassay_005655|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|600051;COSMIC||ALL
EN-PFC2	ABLIM1	1.267225161	8.55E-08	Cytoskeletal associated protein	BrainSpLMD|3983	OMIM|602330
EN-PFC2	C19orf70	0.464605096	8.87E-08	Unclassified	BrainSpLMD|125988	OMIM|616658;HPO|125988|3-Methylglutaconic aciduria, Ataxia, Choreoathetosis, Dysarthria, Intellectual disability, Nystagmus, Spastic paraparesis, Visual impairment
EN-PFC2	PRKAR2A	0.291789856	8.89E-08	Serine/threonine kinase	BrainSpLMD|5576	OMIM|176910
EN-PFC2	RRAGD	0.328550451	9.03E-08	G protein	BrainSpLMD|58528	OMIM|608268
EN-PFC2	PNMA2	0.392906461	9.08E-08	Unclassified	BrainSpLMD|10687;Eurexp|euxassay_005514|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|603970
EN-PFC2	PID1	0.33776581	9.09E-08	Unclassified	BrainSpLMD|55022	OMIM|612930
EN-PFC2	RAB6A	0.567916845	9.40E-08	GTPase	BrainSpLMD|5870;Eurexp|euxassay_012532|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, molar, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|179513
EN-PFC2	SHANK2	0.440504501	9.51E-08	Structural protein	BrainSpLMD|22941	SFARI||Autism, 2 - Strong candidate;OMIM|603290
EN-PFC2	ATP5G3	0.255698371	9.89E-08			
EN-PFC2	TAPT1	0.436237617	1.05E-07	Integral membrane protein	BrainSpLMD|202018	OMIM|612758;HPO|202018|Adducted thumb, Anteverted nares, Ascites, Autosomal recessive inheritance, Beaded ribs, Brachycephaly, Cardiomegaly, Cerebellar hypoplasia, Cleft palate, Decreased skull ossification, Flared metaphysis, Flat face, Flexion contracture, Fractured radius, Hydronephrosis, Hydrops fetalis, Hypertelorism, Hypertrophic cardiomyopathy, Hypospadias, Intrauterine growth retardation, Large fleshy ears, Limb undergrowth, Low-set ears, Microcephaly, Micrognathia, Micropenis, Multiple prenatal fractures, Multiple rib fractures, Osteopenia, Platyspondyly, Pleural effusion, Polyhydramnios, Posteriorly rotated ears, Prominent forehead, Pulmonary hypoplasia, Short femur, Short neck, Short nose, Short ribs, Single umbilical artery, Small for gestational age, Telecanthus, Thoracic hypoplasia, Unilateral cleft lip, Ventricular septal defect, Ventriculomegaly, Webbed neck, Wide nasal bridge, Wormian bones
EN-PFC2	RNF130	0.460279741	1.06E-07	Ubiquitin proteasome system protein	BrainSpLMD|55819	
EN-PFC2	VDAC1	0.289726224	1.06E-07	Voltage gated channel	BrainSpLMD|7416	OMIM|604492
EN-PFC2	ZNF32	0.9041996	1.12E-07	DNA binding protein;Transcription regulatory protein	BrainSpLMD|7580;Eurexp|euxassay_007349|ventricular layer	OMIM|194539
EN-PFC2	VTA1	0.331910231	1.22E-07	Unclassified	BrainSpLMD|51534	OMIM|610902
EN-PFC2	TTLL7	0.452080428	1.24E-07	Enzyme: Ligase	BrainSpLMD|79739	
EN-PFC2	HTATSF1	0.572954322	1.30E-07	Transcription factor	BrainSpLMD|27336	OMIM|300346
EN-PFC2	ATP2B1	0.37869266	1.35E-07	ATPase	BrainSpLMD|490	OMIM|108731
EN-PFC2	SLIT1	0.380390776	1.36E-07	Ligand	BrainSpLMD|6585;BrainSpMouseDev|20324	OMIM|603742
EN-PFC2	KRAS	0.659958692	1.37E-07	GTPase	BrainSpLMD|3845	OMIM|190070;COSMIC||pancreatic, colorectal, lung, thyroid, AML, other tumour types;HPO|3845|Abdominal pain, Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of cardiovascular system morphology, Abnormality of coagulation, Abnormality of dental color, Abnormality of dental morphology, Abnormality of finger, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Abnormality of the spleen, Abnormality of the ulna, Abnormality of the ureter, Abnormality of toe, Abnormality of vision, Absent eyebrow, Absent septum pellucidum, Acute myeloid leukemia, Adenoma sebaceum, Aganglionic megacolon, Agenesis of corpus callosum, Alopecia, Alveolar cell carcinoma, Anteverted nares, Anxiety, Aphasia, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the skin, Arrhythmia, Asymmetric growth, Atrial septal defect, Atrial septal dilatation, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Basal cell carcinoma, Biparietal narrowing, Blepharophimosis, Bone cyst, Brachydactyly, Breast carcinoma, Brittle hair, Broad forehead, Capillary hemangiomas, Cavernous hemangioma, Cerebral calcification, Cerebral cortical atrophy, Chronic atrophic gastritis, Coarctation of aorta, Coarse facial features, Coarse hair, Coloboma, Colon cancer, Constipation, Corneal opacity, Cranial asymmetry, Craniofacial hyperostosis, Cryptorchidism, Curly hair, Cystic hygroma, Death in early adulthood, Death in infancy, Deep palmar crease, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Downslanted palpebral fissures, Dry skin, Dysarthria, Dysphasia, Dystrophic fingernails, EEG abnormality, Echolalia, Enlarged thorax, Epibulbar dermoid, Epicanthus, Excessive wrinkled skin, Facial asymmetry, Failure to thrive, Failure to thrive in infancy, Fatigue, Feeding difficulties, Feeding difficulties in infancy, Fine hair, Frontal bossing, Full cheeks, Gastrointestinal hemorrhage, Generalized hyperpigmentation, Genu recurvatum, Glioblastoma, Global developmental delay, Growth delay, Hearing impairment, Hemangioma, Hemimegalencephaly, Hepatomegaly, Heterogeneous, High forehead, High palate, Horseshoe kidney, Hyperextensible skin, Hyperreflexia, Hypertelorism, Hypertonia, Hypogonadotrophic hypogonadism, Hypophosphatemic rickets, Hypopigmentation of the skin, Hypoplasia of the zygomatic bone, Ichthyosis, Increased intracranial pressure, Intellectual disability, Iris coloboma, Irregular hyperpigmentation, Irritability, Joint hyperflexibility, Juvenile myelomonocytic leukemia, Kyphoscoliosis, Laryngeal hypoplasia, Lipodystrophy, Long face, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Malabsorption, Melanocytic nevus, Micrognathia, Microphthalmia, Midface retrusion, Migraine, Mitral valve prolapse, Multiple cafe-au-lait spots, Multiple lentigines, Multiple lipomas, Muscle stiffness, Muscle weakness, Muscular hypotonia, Mutism, Myopia, Nausea and vomiting, Neoplasm of the pancreas, Neoplasm of the rectum, Neoplasm of the skeletal system, Nevus flammeus, Nevus sebaceous, Nystagmus, Osteolysis, Osteopenia, Overgrowth, Palmoplantar keratoderma, Pectus carinatum, Pectus excavatum, Peripheral axonal neuropathy, Plagiocephaly, Polyhydramnios, Porencephalic cyst, Posteriorly rotated ears, Premature birth, Prominent occiput, Proptosis, Ptosis, Pulmonary arterial hypertension, Pulmonary artery stenosis, Pulmonic stenosis, Recurrent fractures, Reduced tendon reflexes, Retinopathy, Rigidity, Sagittal craniosynostosis, Scoliosis, Seizures, Short neck, Short nose, Short palm, Short palpebral fissure, Short stature, Slow-growing hair, Somatic mosaicism, Somatic mutation, Sparse hair, Sparse or absent eyelashes, Spasticity, Sporadic, Stomach cancer, Strabismus, Subcortical cerebral atrophy, Subcutaneous nodule, Telecanthus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Transitional cell carcinoma of the bladder, Triangular face, Tricuspid valve prolapse, Underdeveloped supraorbital ridges, Ventricular septal defect, Ventriculomegaly, Vertebral segmentation defect, Visceral angiomatosis, Webbed neck, Weight loss, Wide intermamillary distance, Xanthomatosis
EN-PFC2	CCSER2	0.310026411	1.47E-07	Unclassified	BrainSpLMD|54462;Eurexp|euxassay_016859|dorsal root ganglion, facial VII, glossopharyngeal IX, marginal layer, neural retina, olfactory, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	
EN-PFC2	NOVA1	0.589416127	1.50E-07	RNA binding protein	BrainSpLMD|4857	OMIM|602157
EN-PFC2	RPL37	0.562524	1.53E-07	Ribosomal subunit		OMIM|604181
EN-PFC2	CELF2.AS2	0.575798039	1.58E-07			
EN-PFC2	RP11.312J18.5	0.564195623	1.59E-07			
EN-PFC2	COMMD3	0.648913892	1.59E-07	Unclassified	BrainSpLMD|23412;Eurexp|euxassay_003440|pancreas, submandibular gland primordium	OMIM|616700
EN-PFC2	SLC11A2	0.29678153	1.72E-07	Transport/cargo protein	BrainSpLMD|4891	OMIM|600523;HPO|4891|Abnormality of metabolism/homeostasis, Abnormality of the liver, Anemia, Autosomal recessive inheritance, Decreased mean corpuscular volume
EN-PFC2	CHCHD3	0.36711565	1.75E-07	Unclassified	BrainSpLMD|54927;Eurexp|euxassay_001805|lobe, orbito-sphenoid, thymus primordium	OMIM|613748
EN-PFC2	NUDT11	0.466154225	1.81E-07	Enzyme: Phosphohydrolase	BrainSpLMD|55190	OMIM|300528
EN-PFC2	CNRIP1	0.833779028	1.86E-07	Unclassified	BrainSpLMD|25927	
EN-PFC2	CACNG8	0.58156381	1.91E-07	Voltage gated channel	BrainSpLMD|59283;Eurexp|euxassay_002189|marginal layer	OMIM|606900
EN-PFC2	ARL15	1.191352042	1.98E-07	GTPase	BrainSpLMD|54622	
EN-PFC2	AASDHPPT	0.554864059	2.00E-07	Enzyme: Dehydrogenase	BrainSpLMD|60496	OMIM|607756
EN-PFC2	CACNA1B	0.503254744	2.02E-07	Voltage gated channel	BrainSpLMD|774;BrainSpMouseDev|12072	SFARI||Autism, No category;OMIM|601012;HPO|774|Adult onset, Autosomal dominant inheritance, Axial dystonia, Dysphonia, Gait disturbance, Head tremor, Limb dystonia, Myoclonus, Progressive, Torticollis, Writer's cramp
EN-PFC2	ERO1L	0.280762083	2.04E-07			
EN-PFC2	RFPL1S	0.993175956	2.11E-07			OMIM|605972
EN-PFC2	C4orf3	0.527593723	2.12E-07	Integral membrane protein	BrainSpLMD|401152	
EN-PFC2	CEP170P1	0.339052116	2.19E-07			
EN-PFC2	MIEN1	0.518192334	2.25E-07	Unclassified	BrainSpLMD|84299;Eurexp|euxassay_001703|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|611802
EN-PFC2	LSAMP	0.576389507	2.27E-07	Adhesion molecule	BrainSpLMD|4045	OMIM|603241
EN-PFC2	FAM49B	1.00048357	2.28E-07	Unclassified	BrainSpLMD|51571	
EN-PFC2	DPY19L2	1.196825741	2.33E-07	Unclassified	BrainSpLMD|283417	OMIM|613893;HPO|283417|Autosomal recessive inheritance, Globozoospermia
EN-PFC2	TRIM16	0.536692056	2.42E-07	Cytoskeletal protein	BrainSpLMD|10626	OMIM|609505
EN-PFC2	RAB7A	0.571635112	2.47E-07	GTPase	BrainSpLMD|7879	OMIM|602298;HPO|7879|Areflexia, Autoamputation of foot, Autosomal dominant inheritance, Axonal degeneration/regeneration, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Dystrophic toenail, Foot dorsiflexor weakness, Foot osteomyelitis, Hammertoe, Hyporeflexia, Peripheral axonal atrophy, Pes cavus, Pes planus, Steppage gait
EN-PFC2	KLC1	0.285794279	2.52E-07	Motor protein	BrainSpLMD|3831;Eurexp|euxassay_009774|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|600025
EN-PFC2	ST8SIA4	0.274770278	2.52E-07	Enzyme: Sialyltransferase	BrainSpLMD|7903;Eurexp|euxassay_007776|brain, dorsal root ganglion, left lung, mesenchyme, neural retina, olfactory, organ system, right lung, spinal cord, trigeminal V	OMIM|602547
EN-PFC2	CSRNP2	0.607937172	2.60E-07	Unclassified	BrainSpLMD|81566	
EN-PFC2	TMEM199	0.753590909	2.68E-07	Unclassified	BrainSpLMD|147007	OMIM|616815;HPO|147007|Autosomal recessive inheritance, Decreased liver function, Decreased serum ceruloplasmin
EN-PFC2	COA3	0.501725553	2.77E-07	Unclassified	BrainSpLMD|28958	OMIM|614775
EN-PFC2	KIAA0226	0.367958794	2.78E-07			
EN-PFC2	USP32P3	0.909808276	2.80E-07			
EN-PFC2	MAP3K9	1.396963242	2.83E-07	Serine/threonine kinase	BrainSpLMD|4293	OMIM|600136
EN-PFC2	PPP3CB	0.638866212	2.87E-07	Serine/threonine phosphatase	BrainSpLMD|5532	OMIM|114106
EN-PFC2	RP11.356J5.12	0.45303853	2.93E-07			
EN-PFC2	ENO2	0.594033309	2.96E-07	Enzyme: Hydratase	BrainSpLMD|2026;Eurexp|euxassay_018457|dorsal root ganglion, facial VII, mantle layer, trigeminal V, vagus X, ventral grey horn	OMIM|131360
EN-PFC2	MRPL1	0.570939618	2.98E-07	RNA binding protein	BrainSpLMD|65008	OMIM|611821
EN-PFC2	SLC9A6	1.000436032	3.01E-07	Transport/cargo protein	BrainSpLMD|10479;Eurexp|euxassay_012153|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	SFARI||Autism, No category;OMIM|300231;HPO|10479|Abnormality of the foot, Absent speech, Adducted thumb, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Autism, Bowel incontinence, Cachexia, Cerebellar atrophy, Cerebral cortical atrophy, Conspicuously happy disposition, Decreased body weight, Developmental regression, Drooling, Dysphagia, Dystonia, Feeding difficulties in infancy, Flexion contracture, Gait ataxia, Gastroesophageal reflux, Generalized hypotonia, Generalized seizures, Global developmental delay, Happy demeanor, Hyperkinesis, Inappropriate laughter, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Long face, Long nose, Loss of ability to walk in first decade, Macrotia, Mandibular prognathia, Microcephaly, Mutism, Narrow chest, Narrow face, Neuronal loss in central nervous system, Nystagmus, Open mouth, Ophthalmoplegia, Pectus excavatum, Photosensitive tonic-clonic seizures, Severe global developmental delay, Skeletal muscle atrophy, Sleep disturbance, Slender finger, Stereotypy, Strabismus, Thick eyebrow, Truncal ataxia, Urinary incontinence, Ventriculomegaly, X-linked dominant inheritance
EN-PFC2	RP11.768G7.2	0.858162714	3.20E-07			
EN-PFC2	ATP6V0D1	0.42334862	3.27E-07	ATPase	BrainSpLMD|9114;Eurexp|euxassay_000642|dorsal root ganglion, facial VII, inferior, superior, trigeminal V, vagus X	OMIM|607028
EN-PFC2	SMIM14	0.545667062	3.64E-07	Unclassified	BrainSpLMD|201895;Eurexp|euxassay_007513|brain, choroid invagination, choroid plexus, clavicle, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, liver, mandible, maxilla, neural retina, orbito-sphenoid, rib, roof plate, scapula, spinal cord, tibia, trigeminal V, vagus X, vestibulocochlear VIII	
EN-PFC2	AIG1	0.625094043	3.83E-07	Integral membrane protein	BrainSpLMD|51390	OMIM|608514
EN-PFC2	RP11.397O4.1	0.54913046	3.95E-07			
EN-PFC2	NDUFA8	0.250723712	3.96E-07	Enzyme: Dehydrogenase	BrainSpLMD|4702	OMIM|603359
EN-PFC2	FTH1P7	0.323617793	3.98E-07			
EN-PFC2	FBXL16	0.968237863	4.01E-07	Ubiquitin proteasome system protein	BrainSpLMD|146330	OMIM|609082
EN-PFC2	LINC01114	0.455846325	4.12E-07			
EN-PFC2	OCIAD1	0.539936432	4.12E-07	Unclassified	BrainSpLMD|54940	
EN-PFC2	NDUFAF2	0.325196779	4.19E-07	Unclassified	BrainSpLMD|91942	OMIM|609653;HPO|91942|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, CNS demyelination, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Dysarthria, Dystonia, Emotional lability, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Gliosis, Global developmental delay, Growth delay, Hepatic failure, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Phenotypic variability, Pigmentary retinopathy, Progressive, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
EN-PFC2	TUSC7	0.789544847	4.35E-07			OMIM|616057
EN-PFC2	RGMB	0.595493851	4.61E-07	Unclassified	BrainSpLMD|285704;Eurexp|euxassay_011645|axial skeleton, dorsal root ganglion, hindgut, mantle layer, midgut, oesophagus, stomach	OMIM|612687
EN-PFC2	EIF1B	0.476892485	4.67E-07	Translation regulatory protein	BrainSpLMD|10289;Eurexp|euxassay_011475|mantle layer, ventricular layer	
EN-PFC2	PDIK1L	0.763117033	4.70E-07	Serine/threonine kinase	BrainSpLMD|149420	OMIM|610785
EN-PFC2	PTPN2	0.407342407	4.70E-07	Tyrosine phosphatase	BrainSpLMD|5771;Eurexp|euxassay_001391|lower jaw, lung, urethra, ventricle	OMIM|176887;HPO|5771|Antinuclear antibody positivity, Apraxia, Arthralgia, Dental malocclusion, Elevated C-reactive protein level, Elevated erythrocyte sedimentation rate, Iridocyclitis, Joint dislocation, Joint swelling, Juvenile rheumatoid arthritis, Limitation of joint mobility, Polyarticular arthritis
EN-PFC2	UNC13A	0.706162692	5.19E-07	Calcium binding protein	Eurexp|euxassay_014553|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|609894;HPO|23025|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
EN-PFC2	OCLN	0.429307474	5.22E-07		Eurexp|euxassay_018589|embryo	OMIM|602876;HPO|100506658|Abnormality of movement, Anteverted nares, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral calcification, Cerebral cortical atrophy, Decreased liver function, Elevated hepatic transaminases, Failure to thrive, Global developmental delay, Hepatomegaly, High palate, Hyperreflexia, Increased CSF protein, Intellectual disability, profound, Jaundice, Lissencephaly, Long philtrum, Low-set ears, Microcephaly, Microretrognathia, Muscular hypotonia of the trunk, Nystagmus, Pachygyria, Petechiae, Phenotypic variability, Polymicrogyria, Seizures, Sloping forehead, Spasticity, Splenomegaly, Thrombocytopenia, Ventriculomegaly
EN-PFC2	TMED8	0.645239021	5.36E-07	Unclassified	BrainSpLMD|283578	
EN-PFC2	ZNF571.AS1	0.350090422	5.37E-07			
EN-PFC2	SMAP1	0.746970787	5.45E-07	Integral membrane protein	BrainSpLMD|60682	OMIM|611372
EN-PFC2	CCDC92	0.454891673	5.49E-07	Unclassified	BrainSpLMD|80212;Eurexp|euxassay_002486|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, thoracic, trigeminal V, ventral grey horn, vestibulocochlear VIII	
EN-PFC2	GOLT1B	0.722410224	5.61E-07	Unclassified	BrainSpLMD|51026;Eurexp|euxassay_004588|orbito-sphenoid	OMIM|615078
EN-PFC2	LINC00888	0.630302979	5.64E-07			
EN-PFC2	FEZF2	0.467064645	5.98E-07	Transcription factor	BrainSpLMD|55079;Eurexp|euxassay_009770|mantle layer, ventricular layer, vomeronasal organ;BrainSpMouseDev|34002	SFARI||Autism, 4 - Minimal evidence;OMIM|607414
EN-PFC2	MRPL48	0.30194276	6.11E-07	Ribosomal subunit	BrainSpLMD|51642	OMIM|611853
EN-PFC2	PDE1A	0.449540676	6.31E-07	Enzyme: Phosphodiesterase	BrainSpLMD|5136;BrainSpMouseDev|18339	OMIM|171890
EN-PFC2	ASNS	0.280237201	6.62E-07	Enzyme: Synthase	BrainSpLMD|440;Eurexp|euxassay_004453|dorsal root ganglion, facial VII, floorplate, glossopharyngeal IX, incisor, liver, lung, mantle layer, marginal layer, midgut, naso-lacrimal duct, pancreas, retina, skeletal muscle, stomach, trigeminal V, vagus X	OMIM|108370;HPO|440|Autosomal recessive inheritance, Cerebellar hypoplasia, Cortical dysplasia, Cortical gyral simplification, Cortical visual impairment, Delayed myelination, Encephalopathy, Exaggerated startle response, Failure to thrive, Feeding difficulties, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Hypsarrhythmia, Large hands, Long foot, Macrotia, Microcephaly, Micrognathia, Muscular hypotonia of the trunk, Profound global developmental delay, Progressive, Progressive microcephaly, Respiratory insufficiency, Seizures, Sloping forehead, Spastic tetraplegia, Ventriculomegaly
EN-PFC2	WDSUB1	0.285238259	6.90E-07	Unclassified	BrainSpLMD|151525	
EN-PFC2	CCDC28B	0.404243487	6.94E-07	Unclassified	BrainSpLMD|79140;Eurexp|euxassay_012331|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thymus primordium, thyroid, trigeminal V, vagus X	OMIM|610162
EN-PFC2	RP11.497H16.5	1.647851804	7.04E-07			
EN-PFC2	EPRS	0.318508978	7.07E-07	Enzyme: Ligase	BrainSpLMD|2058;Eurexp|euxassay_008064|mandible, maxilla, orbito-sphenoid, rib	OMIM|138295
EN-PFC2	MAGED4B	0.486781339	7.11E-07	Unclassified		OMIM|300765
EN-PFC2	NDUFA5P11	0.259518691	7.13E-07			
EN-PFC2	RP11.701H24.3	0.543263356	7.32E-07			
EN-PFC2	ATP6V0A2	0.503378922	7.40E-07	ATPase	BrainSpLMD|23545;Eurexp|euxassay_011914|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, rib, scapula, sternum, tibia, turbinate bones, vault of skull	SFARI||Autism, 4 - Minimal evidence;OMIM|611716;HPO|23545|Abnormal apolipoprotein level, Abnormal isoelectric focusing of serum transferrin, Abnormal subcutaneous fat tissue distribution, Abnormality of the cheek, Anteverted nares, Atrial septal dilatation, Autosomal recessive inheritance, Broad nasal tip, Carious teeth, Cerebellar hypoplasia, Coarse hair, Congenital hip dislocation, Coxa vara, Cryptorchidism, Cutis laxa, Dandy-Walker malformation, Decreased muscle mass, Deep palmar crease, Deep plantar creases, Delayed closure of the anterior fontanelle, Delayed cranial suture closure, Delayed eruption of teeth, Delayed speech and language development, Dementia, Downslanted palpebral fissures, Epicanthus, Excessive skin wrinkling on dorsum of hands and fingers, Excessive wrinkled skin, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat face, Fragile nails, Fragmented elastic fibers in the dermis, Frontal bossing, Generalized hypotonia, Generalized joint laxity, Global developmental delay, High nonceruloplasmin-bound serum copper, High palate, Hypertelorism, Hypoplasia of the musculature, Infantile muscular hypotonia, Inguinal hernia, Intellectual disability, Intellectual disability, profound, Intrauterine growth retardation, Joint hypermobility, Kyphoscoliosis, Kyphosis, Lipodystrophy, Lissencephaly, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Microdontia, Midface retrusion, Motor delay, Multiple palmar creases, Multiple plantar creases, Muscular hypotonia, Myopia, Narrow mouth, Nasal speech, Neonatal wrinkled skin of hands and feet, Osteopenia, Pachygyria, Palmoplantar cutis laxa, Pectus excavatum, Pes planus, Polymicrogyria, Poor speech, Postnatal growth retardation, Premature rupture of membranes, Progressive cerebellar ataxia, Progressive microcephaly, Prominent nasolabial fold, Prominent veins on trunk, Psychomotor deterioration, Recurrent sinopulmonary infections, Redundant neck skin, Redundant skin, Scapular winging, Scoliosis, Seizures, Severe Myopia, Short nail, Short nose, Short stature, Slender long bone, Slender long bones with narrow diaphyses, Slurred speech, Small, conical teeth, Smooth philtrum, Sparse hair, Spasticity, Status epilepticus, Strabismus, Subretinal pigment epithelium hemorrhage, Talipes equinovarus, Thick cerebral cortex, Thick hair, Umbilical hernia, Wide anterior fontanel, Wide nasal bridge, Wormian bones
EN-PFC2	TNPO1	0.303587521	7.57E-07	Transport/cargo protein	BrainSpLMD|3842	OMIM|602901
EN-PFC2	RAB2A	0.503606698	7.60E-07	GTPase	BrainSpLMD|5862	SFARI||Autism, 3 - Suggestive evidence;OMIM|179509
EN-PFC2	TRMT10C	0.284886784	8.09E-07	RNA methyltransferase	BrainSpLMD|54931;Eurexp|euxassay_006517|calyces, dermis, epidermis, hyoid bone, incisor, lung, mantle layer, marginal layer, molar, phalanx, submandibular gland primordium, tegmentum, temporal bone, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|615423;HPO|54931|Autosomal recessive inheritance, Congenital onset, Decreased liver function, Elevated hepatic transaminases, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Hyperalaninemia, Increased CSF lactate, Increased serum lactate, Lactic acidosis
EN-PFC2	NIPSNAP1	0.363107068	8.19E-07	Unclassified	BrainSpLMD|8508;Eurexp|euxassay_005226|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, liver, lung, metanephros, midgut, molar, spinal cord, stomach, submandibular gland primordium, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|603249
EN-PFC2	SRPK1	0.657804969	8.22E-07	Dual specificity kinase	BrainSpLMD|6732	OMIM|601939
EN-PFC2	TENM3	1.183424718	8.45E-07	Integral membrane protein	BrainSpMouseDev|23716	OMIM|610083;HPO|55714|Autosomal recessive inheritance, Esotropia, Iris coloboma, Microcornea, Microphthalmia, Pendular nystagmus, Reduced visual acuity, Retinal detachment, Visual impairment
EN-PFC2	RNF165	0.397518902	8.81E-07		BrainSpLMD|494470	
EN-PFC2	ATP6V1D	0.372542556	8.86E-07	ATPase	BrainSpLMD|51382;Eurexp|euxassay_003760|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, stroma, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|609398
EN-PFC2	EIF4G3	0.264835727	9.24E-07	Translation regulatory protein	BrainSpLMD|8672;Eurexp|euxassay_016776|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII	OMIM|603929
EN-PFC2	PACS1	0.324508251	9.42E-07	Adapter molecule	BrainSpLMD|55690;Eurexp|euxassay_007319|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|607492;HPO|55690|Aggressive behavior, Autosomal dominant inheritance, Bulbous nose, Cavum septum pellucidum, Constipation, Cryptorchidism, Delayed speech and language development, Diastema, Downslanted palpebral fissures, Downturned corners of mouth, Feeding difficulties, Generalized hypotonia, Global developmental delay, Highly arched eyebrow, Hypertelorism, Intellectual disability, Long eyelashes, Low anterior hairline, Low-set ears, Macrotia, Myopia, Nystagmus, Pes planus, Ptosis, Seizures, Single umbilical artery, Smooth philtrum, Speech apraxia, Strabismus, Synophrys, Thin upper lip vermilion, Volvulus, Wide intermamillary distance, Wide mouth
EN-PFC2	GPN1	0.428083347	1.00E-06	GTPase	BrainSpLMD|11321;Eurexp|euxassay_003421|sublingual gland primordium, submandibular gland primordium	OMIM|611479
EN-PFC2	LMTK2	0.305209203	1.05E-06	Dual specificity kinase	BrainSpLMD|22853;Eurexp|euxassay_018856|marginal layer, pancreas;BrainSpMouseDev|87332	OMIM|610989
EN-PFC2	BTBD10	0.966480074	1.08E-06	Transcription regulatory protein	BrainSpLMD|84280	OMIM|615933
EN-PFC2	ACTR2	0.301667982	1.08E-06	Cytoskeletal protein	BrainSpLMD|10097	OMIM|604221
EN-PFC2	FTO	0.443651004	1.10E-06	Unclassified	BrainSpLMD|79068	OMIM|610966;HPO|79068|Anteverted nares, Autosomal recessive inheritance, Bifid uvula, Brachydactyly, Cleft palate, Coarse facial features, Cryptorchidism, Cutis marmorata, Dandy-Walker malformation, Failure to thrive, Global developmental delay, Hydrocephalus, Hypertonia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Lissencephaly, Macroglossia, Microcephaly, Obesity, Patent ductus arteriosus, Protruding tongue, Retrognathia, Seizures, Sensorineural hearing impairment, Short neck, Skull asymmetry, Small nail, Umbilical hernia, Ventricular septal defect
EN-PFC2	SEL1L	0.429077742	1.13E-06	Integral membrane protein	BrainSpLMD|6400;BrainSpMouseDev|20101	OMIM|602329
EN-PFC2	ARHGEF3	1.33766404	1.15E-06	Guanine nucleotide exchange factor	BrainSpLMD|50650	OMIM|612115
EN-PFC2	DHCR7	0.726461063	1.16E-06	Enzyme: Reductase	BrainSpLMD|1717;Eurexp|euxassay_015508|adrenal gland, neural retina, stroma	SFARI||Autism, No category;OMIM|602858;HPO|1717|2-3 toe syndactyly, Abnormal dermatoglyphics, Abnormal lung lobation, Abnormality of dental morphology, Abnormality of the larynx, Abnormality of the metacarpal bones, Aganglionic megacolon, Aggressive behavior, Ambiguous genitalia, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Atrial septal defect, Atrioventricular canal defect, Attention deficit hyperactivity disorder, Autism, Autosomal recessive inheritance, Bicornuate uterus, Bifid scrotum, Biparietal narrowing, Breech presentation, Broad alveolar ridges, Cataract, Cholestatic liver disease, Cleft palate, Clitoral hypertrophy, Coarctation of aorta, Constipation, Cryptorchidism, Cutaneous photosensitivity, Cutis marmorata, Dandy-Walker malformation, Decreased fetal movement, Dental crowding, Depressed nasal bridge, Eczema, Elevated 7-dehydrocholesterol, Epicanthus, Epiphyseal stippling, Excessive daytime somnolence, Facial capillary hemangioma, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Gastrointestinal dysmotility, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hammertoe, Hearing impairment, Hip dislocation, Hip subluxation, Holoprosencephaly, Hydrocephalus, Hydronephrosis, Hyperactivity, Hypertelorism, Hypertonia, Hypocholesterolemia, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Hypospadias, Increased nuchal translucency, Intellectual disability, Intestinal malrotation, Intrauterine growth retardation, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Metatarsus adductus, Microcephaly, Microglossia, Micrognathia, Micromelia, Micropenis, Muscular hypotonia, Narrow forehead, Nystagmus, Overlapping toe, Patent ductus arteriosus, Periventricular gray matter heterotopia, Polyhydramnios, Poor suck, Postaxial foot polydactyly, Postaxial hand polydactyly, Posteriorly rotated ears, Precocious puberty, Premature birth, Proximal placement of thumb, Ptosis, Pulmonary hypoplasia, Pyloric stenosis, Recurrent infections, Recurrent otitis media, Renal agenesis, Renal cyst, Renal hypoplasia, Scrotal hypoplasia, Seizures, Self-injurious behavior, Self-mutilation, Septate vagina, Severe photosensitivity, Short neck, Short stature, Short thumb, Short toe, Sleep-wake cycle disturbance, Strabismus, Talipes calcaneovalgus, Tracheal stenosis, Ureteropelvic junction obstruction, Ventricular septal defect, Ventriculomegaly, Vomiting, Wide intermamillary distance, Wide mouth, Wide nasal bridge
EN-PFC2	MSL3	0.552188335	1.25E-06	Transcription factor	BrainSpLMD|10943	OMIM|300609
EN-PFC2	ELAVL2	0.344306862	1.29E-06	RNA binding protein	BrainSpLMD|1993;Eurexp|euxassay_005246|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, oesophagus, olfactory, pharynx, respiratory, retina, spinal cord, stomach, testis, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|601673
EN-PFC2	BID	0.546118839	1.38E-06	Ligand	BrainSpLMD|637;Eurexp|euxassay_006342|glossopharyngeal IX, larynx, liver, lung, metanephros, submandibular gland primordium, thymus primordium, trigeminal V, vagus X	OMIM|601997
EN-PFC2	RP11.134K13.2	0.429621241	1.38E-06			
EN-PFC2	SLK	0.556397533	1.39E-06	Serine/threonine kinase	BrainSpLMD|9748;Eurexp|euxassay_012162|facial VII, midgut, molar, oesophagus, oral epithelium, rectum, stomach, thymus primordium, thyroid	OMIM|616563
EN-PFC2	DCTN5	0.327728892	1.40E-06	Unclassified	BrainSpLMD|84516;Eurexp|euxassay_005044|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, trigeminal V	SFARI||Autism, 5 - Hypothesized but untested;OMIM|612962
EN-PFC2	UBE2K	0.537915903	1.42E-06	Ubiquitin proteasome system protein	BrainSpLMD|3093	OMIM|602846
EN-PFC2	HINT3	0.750545644	1.43E-06	Unclassified	BrainSpLMD|135114	OMIM|609998
EN-PFC2	HSBP1	0.492184747	1.57E-06	Transcription regulatory protein	BrainSpLMD|3281;Eurexp|euxassay_003563|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|604553
EN-PFC2	ITFG1	0.258693835	1.57E-06	Integral membrane protein	BrainSpLMD|81533;Eurexp|euxassay_011448|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611803
EN-PFC2	NT5DC3	1.407598231	1.61E-06	Unclassified	BrainSpLMD|51559	OMIM|611076
EN-PFC2	RNF182	0.488293642	1.62E-06	Ubiquitin proteasome system protein	BrainSpLMD|221687;Eurexp|euxassay_012952|mantle layer, marginal layer, olfactory	
EN-PFC2	ZNF385D	1.068002536	1.64E-06	DNA binding protein	BrainSpLMD|79750	
EN-PFC2	WDR13	0.331240175	1.65E-06	Transcription regulatory protein	BrainSpLMD|64743	OMIM|300512
EN-PFC2	C1QBP	0.317073266	1.66E-06	Complement receptor	BrainSpLMD|708;Eurexp|euxassay_002685|axial muscle, incisor, midgut, molar, orbito-sphenoid, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|601269
EN-PFC2	DTNA	0.356954045	1.67E-06	Unclassified	BrainSpLMD|1837;Eurexp|euxassay_010455|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|601239;HPO|1837|Atrial fibrillation, Autosomal dominant inheritance, Congestive heart failure, Hypoplastic left heart, Left ventricular hypertrophy, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Patent ductus arteriosus, Sudden cardiac death, Ventricular arrhythmia, Ventricular septal defect
EN-PFC2	RPL26L1	0.516967463	1.69E-06	Unclassified		
EN-PFC2	SMAD2	0.295041035	1.71E-06	DNA binding protein	BrainSpLMD|4087;Eurexp|euxassay_000185|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, nerve fibre layer, nerve trunk, nuclear layer, roof plate, tegmentum, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|16896	OMIM|601366;COSMIC||colorectal carcinoma, hepatocellular carcinoma
EN-PFC2	NDUFAB1	0.360666501	1.76E-06	Enzyme: Oxidoreductase	BrainSpLMD|4706;Eurexp|euxassay_018913|pancreas, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|603836
EN-PFC2	ATXN10	0.258432949	1.78E-06	Unclassified	BrainSpLMD|25814	OMIM|611150;HPO|25814|Abnormal pyramidal signs, Abnormality of extrapyramidal motor function, Autosomal dominant inheritance, Cerebellar atrophy, Decreased nerve conduction velocity, Dementia, Depressivity, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysphagia, Gait ataxia, Genetic anticipation, Hyperreflexia, Incomplete penetrance, Incoordination, Limb ataxia, Morphological abnormality of the pyramidal tract, Nystagmus, Progressive cerebellar ataxia, Scanning speech, Seizures, Urinary incontinence, Urinary urgency
EN-PFC2	CSMD3	1.236506253	1.80E-06	Integral membrane protein	BrainSpLMD|114788;Eurexp|euxassay_013996|mantle layer, tegmentum, ventricle	OMIM|608399;COSMIC||ovarian cancer, oral SCC, lung cancer
EN-PFC2	BZW1P2	0.441221063	1.81E-06			
EN-PFC2	OTUD6B.AS1	0.431682999	1.84E-06			
EN-PFC2	PSMD14	0.298478192	1.89E-06	Ubiquitin proteasome system protein	BrainSpLMD|10213	OMIM|607173
EN-PFC2	TERF2IP	0.330370509	1.95E-06	DNA binding protein;Cell cycle control protein	BrainSpLMD|54386	OMIM|605061;HPO|54386|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus
EN-PFC2	DEAF1	0.324064667	2.04E-06	Transcription regulatory protein	BrainSpLMD|10522;Eurexp|euxassay_012020|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, hip, humerus, nasal septum, orbito-sphenoid, otic capsule, radius, rib, scapula, temporal bone, tibia, turbinate, ulna;BrainSpMouseDev|33299	SFARI||Autism, 2 - Strong candidate;OMIM|602635;HPO|10522|Abnormal form of the vertebral bodies, Abnormality of cardiovascular system morphology, Abnormality of the tracheobronchial system, Absent speech, Aggressive behavior, Agitation, Anteverted nares, Anxiety, Aplasia/Hypoplasia of the corpus callosum, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Brachycephaly, Brachydactyly, Broad forehead, Chronic otitis media, Clinodactyly of the 5th finger, Conductive hearing impairment, Constipation, Corticospinal tract hypoplasia, Decreased fetal movement, Deeply set eye, Delayed eruption of primary teeth, Delayed speech and language development, Depressed nasal bridge, Dyskinesia, EEG abnormality, Failure to thrive in infancy, Feeding difficulties in infancy, Frontal bossing, Gait disturbance, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hoarse voice, Horizontal eyebrow, Hyperacusis, Hypercholesterolemia, Hypertelorism, Hypertriglyceridemia, Hyporeflexia, Impaired pain sensation, Infantile onset, Intellectual disability, Involuntary movements, Large face, Mandibular prognathia, Microcornea, Micrognathia, Midface retrusion, Mood swings, Muscular hypotonia, Myopia, Neurological speech impairment, Obesity, Open mouth, Pes planus, Poor eye contact, Recurrent infections, Scoliosis, Self-injurious behavior, Short nose, Short philtrum, Short stature, Sleep disturbance, Status epilepticus, Stereotypy, Strabismus, Synophrys, Taurodontia, Tented upper lip vermilion, Thick lower lip vermilion, Toe syndactyly, Upslanted palpebral fissure, Ventriculomegaly, Wide nasal bridge
EN-PFC2	BMPR2	0.291854759	2.10E-06	Receptor serine/threonine kinase	BrainSpLMD|659;Eurexp|euxassay_008027|dorsal root ganglion, glossopharyngeal IX, neural retina, trigeminal V;BrainSpMouseDev|11954	OMIM|600799;HPO|659|Abnormal thrombosis, Arterial intimal fibrosis, Autosomal dominant inheritance, Dyspnea, Elevated jugular venous pressure, Elevated right atrial pressure, Hypertension, Incomplete penetrance, Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis, Pulmonary venous occlusion, Right ventricular failure, Right ventricular hypertrophy, Telangiectasia
EN-PFC2	LMBRD2	1.145321288	2.12E-06	Unclassified	Eurexp|euxassay_011394|Meckel's cartilage, facial VII, femur, glossopharyngeal IX, phalanx, tarsus, trigeminal V, vagus X	
EN-PFC2	EPB41	0.673956399	2.27E-06	Structural protein	BrainSpLMD|2035	OMIM|130500;HPO|2035|Autosomal dominant inheritance, Elliptocytosis, Hemolytic anemia
EN-PFC2	NOL4	0.704352196	2.27E-06	Unclassified	BrainSpLMD|8715;Eurexp|euxassay_008266|brain, neural retina, olfactory, spinal cord	OMIM|603577
EN-PFC2	SESTD1	0.296706046	2.37E-06	Cytoskeletal associated protein	BrainSpLMD|91404;Eurexp|euxassay_000779|dorsal root ganglion, facial VII, inferior, superior, trigeminal V, vagus X, vestibular component	
EN-PFC2	ARL10	0.414842894	2.39E-06	GTPase	BrainSpLMD|285598;BrainSpMouseDev|36074	
EN-PFC2	ITSN1	0.311534008	2.43E-06	Adapter molecule	BrainSpLMD|6453;Eurexp|euxassay_003599|dorsal grey horn, marginal layer, ventricular layer;BrainSpMouseDev|16216	OMIM|602442
EN-PFC2	CHGB	0.411220999	2.47E-06	Secreted polypeptide	BrainSpLMD|1114;Eurexp|euxassay_007010|brain, cervical, cervico-thoracic, facial VII, glossopharyngeal IX, medulla, midgut, neural retina, pancreas, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|118920
EN-PFC2	AMN1	0.448947508	2.48E-06	Unclassified	BrainSpLMD|196394	
EN-PFC2	LBH	0.295454296	2.53E-06	Transcription regulatory protein	BrainSpLMD|81606;BrainSpMouseDev|53729	OMIM|611763
EN-PFC2	PGD	0.421103334	2.55E-06	Enzyme: Dehydrogenase	BrainSpLMD|5226;Eurexp|euxassay_010515|adrenal gland, axial muscle, dorsal root ganglion, liver, lung, mandible, maxilla, metanephros, midgut, orbito-sphenoid, stomach, thymus primordium	OMIM|172200
EN-PFC2	SLC4A10	0.302408659	2.60E-06	Membrane transport protein	BrainSpLMD|57282;Eurexp|euxassay_019732|choroid plexus, olfactory lobe	SFARI||Autism, 4 - Minimal evidence;OMIM|605556
EN-PFC2	CNKSR3	0.867371931	2.67E-06	Unclassified	BrainSpLMD|154043	OMIM|617476
EN-PFC2	FARSB	0.326056364	2.73E-06	Enzyme: Ligase	BrainSpLMD|10056;Eurexp|euxassay_006146|axial muscle, brain, cortex, cranial muscle, dorsal root ganglion, excretory component, glossopharyngeal IX, liver, lung, midgut, olfactory, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|609690
EN-PFC2	C17orf58	0.575175916	2.75E-06	Unclassified	BrainSpLMD|284018;Eurexp|euxassay_007581|olfactory, ventricular layer	
EN-PFC2	SH3GLB1	0.76972438	2.76E-06	Enzyme: Acyltransferase	BrainSpLMD|51100	OMIM|609287
EN-PFC2	COPG2	0.490639261	2.88E-06	Transport/cargo protein	BrainSpMouseDev|33453	OMIM|604355
EN-PFC2	POLR2B	0.300093635	2.94E-06	RNA polymerase	BrainSpLMD|5431;Eurexp|euxassay_019551|incisor, liver, lung, metanephros, midgut, molar, neural retina, olfactory, pancreas, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|87230	OMIM|180661
EN-PFC2	RUSC2	0.607036433	2.95E-06	Unclassified		OMIM|611053
EN-PFC2	FAM171A1	0.514580874	2.99E-06	Integral membrane protein	Eurexp|euxassay_009290|glossopharyngeal IX, mantle layer, trigeminal V	
EN-PFC2	HERC3	0.485067492	3.02E-06	Ubiquitin proteasome system protein	BrainSpLMD|8916;Eurexp|euxassay_007296|Meckel's cartilage, brain, dorsal root ganglion, left lung, mesenchyme, oesophagus, otic capsule, pharyngo-tympanic tube, pituitary, right lung, spinal cord	OMIM|605200
EN-PFC2	GDPD1	0.782689488	3.10E-06	Enzyme: Catalase	BrainSpLMD|284161;Eurexp|euxassay_009145|bladder, brain, calyces, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, medulla, midgut, molar, olfactory, rectum, retina, spinal cord, stomach, submandibular gland primordium, thoracic, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|616317
EN-PFC2	RBFA	0.32127578	3.10E-06	Unclassified	BrainSpLMD|79863	
EN-PFC2	SMARCB1	0.763864596	3.11E-06	Unclassified	BrainSpLMD|6598	OMIM|601607;COSMIC||malignant rhabdoid, malignant rhabdoid;HPO|6598|Abnormality of cardiovascular system morphology, Abnormality of the corpus callosum, Abnormality of the dentition, Anteverted nares, Apathy, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Ataxia, Autosomal dominant inheritance, Choroid plexus carcinoma, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Delayed eruption of permanent teeth, Delayed skeletal maturation, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Feeding difficulties, Feeding difficulties in infancy, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hydrocephalus, Hypertrichosis, Hypoplastic fifth fingernail, Intellectual disability, Intrauterine growth retardation, Irritability, Joint hyperflexibility, Limitation of joint mobility, Long eyelashes, Macrocephaly, Macroglossia, Malignant neoplasm of the central nervous system, Medulloblastoma, Microcephaly, Migraine, Muscle weakness, Muscular hypotonia, Nausea and vomiting, Nystagmus, Recurrent respiratory infections, Reduced consciousness/confusion, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Slow-growing hair, Sparse hair, Sparse scalp hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Visual impairment, Wide mouth, Wide nasal bridge, Wide nose
EN-PFC2	SMIM13	0.452942566	3.22E-06			
EN-PFC2	TMEM246	0.521580378	3.22E-06	Unclassified	BrainSpLMD|84302;Eurexp|euxassay_002939|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nucleus pulposus, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	
EN-PFC2	SLC23A2	0.586758276	3.24E-06	Transport/cargo protein	BrainSpLMD|9962;Eurexp|euxassay_019254|adrenal gland, choroid plexus	OMIM|603791
EN-PFC2	SPIN1	0.412764439	3.28E-06	Unclassified	BrainSpLMD|10927	OMIM|609936
EN-PFC2	SQLE	0.26040836	3.29E-06	Enzyme: Oxygenase	BrainSpLMD|6713	OMIM|602019
EN-PFC2	MMD	0.546491706	3.39E-06	Integral membrane protein	BrainSpLMD|23531;Eurexp|euxassay_002968|Meckel's cartilage, axial skeleton, bladder, dorsal root ganglion, facial VII, foregut-midgut junction, glossopharyngeal IX, head mesenchyme, hindgut, incisor, limb, midgut, molar, nasal capsule, neural retina, oesophagus, olfactory, pectoral girdle and thoracic body wall, rectum, retina, rib, stomach, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|604467
EN-PFC2	PDCD5	0.297359712	3.50E-06	Unclassified	BrainSpLMD|9141	OMIM|604583
EN-PFC2	MAGED4	0.297893923	3.63E-06	-		OMIM|300702
EN-PFC2	ARMCX1	0.435053566	3.68E-06	Unclassified	BrainSpLMD|51309;Eurexp|euxassay_002320|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	OMIM|300362
EN-PFC2	GRIA4	0.583505232	3.71E-06	Extracellular ligand gated channel	BrainSpLMD|2893;Eurexp|euxassay_006297|bladder, brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, ductus deferens, facial VII, incisor, loop, medulla, metanephros, molar, neural retina, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|14578	OMIM|138246
EN-PFC2	BCAT1	0.786420212	3.72E-06	Enzyme: Aminotransferase	BrainSpLMD|586;Eurexp|euxassay_010499|brain, clavicle, facial VII, incisor, mandible, nasal septum, neural retina, orbito-sphenoid, rib, spinal cord, tongue, trigeminal V, turbinate bones;BrainSpMouseDev|11821	OMIM|113520
EN-PFC2	ASAH1	0.535739463	3.73E-06	Enzyme: Hydrolase	BrainSpLMD|427;Eurexp|euxassay_004481|lung	OMIM|613468;HPO|427|Areflexia, Arthralgia, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Cherry red spot of the macula, Decreased muscle mass, Degeneration of anterior horn cells, Dementia, Difficulty walking, EEG abnormality, EMG abnormality, Facial palsy, Failure to thrive, Frequent falls, Gait disturbance, Generalized myoclonic seizures, Gowers sign, Hepatomegaly, Hoarse cry, Intellectual disability, Irritability, Joint stiffness, Joint swelling, Juvenile onset, Kyphosis, Laryngomalacia, Lipogranulomatosis, Motor delay, Myoclonus, Neurological speech impairment, Nystagmus, Oral-pharyngeal dysphagia, Osteoporosis, Periarticular subcutaneous nodules, Progressive, Progressive distal muscular atrophy, Recurrent respiratory infections, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scoliosis, Short stature, Spinal muscular atrophy, Splenomegaly, Tongue fasciculations, Tremor, Variable expressivity
EN-PFC2	FUBP1	0.417194365	3.84E-06	Transcription regulatory protein	BrainSpLMD|8880	OMIM|603444;COSMIC||oligodendroglioma
EN-PFC2	FAM127A	0.362980707	3.84E-06			
EN-PFC2	SRGAP2	0.285271016	3.88E-06	GTPase activating protein	Eurexp|euxassay_013988|dorsal grey horn, mantle layer, ventricle, ventricular layer	OMIM|606524
EN-PFC2	ZNF529	0.732868353	3.98E-06	DNA binding protein	BrainSpLMD|57711	
EN-PFC2	INSIG1	0.621882768	4.06E-06	Integral membrane protein	BrainSpLMD|3638;Eurexp|euxassay_011040|cervical, cervico-thoracic, glossopharyngeal IX, hindgut, incisor, lobe, mandible, maxilla, mesenchyme, midgut, neural retina, rectum, stomach, thoracic, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|602055
EN-PFC2	PANK3	0.391020058	4.30E-06	Enzyme: Phosphotransferase	BrainSpLMD|79646	OMIM|606161
EN-PFC2	IRS2	0.520615837	4.37E-06	Adapter molecule	BrainSpLMD|8660;Eurexp|euxassay_014216|cortex, dorsal root ganglion, incisor, lip, molar, skeleton, skin, thymus primordium, ventricular layer	OMIM|600797
EN-PFC2	SMIM8	0.631325718	4.44E-06	Unclassified	BrainSpLMD|57150	
EN-PFC2	RNF5	0.26148957	4.58E-06	Enzyme: Ligase		OMIM|602677
EN-PFC2	SLC35E2B	0.582877593	4.74E-06	-	BrainSpLMD|728661	
EN-PFC2	SNRPB2	0.492311646	4.89E-06	Ribonucleoprotein	BrainSpLMD|6629;Eurexp|euxassay_003430|submandibular gland primordium, vibrissa	OMIM|603520
EN-PFC2	MTND2P28	0.518234938	5.26E-06			
EN-PFC2	BRD3	0.340920334	5.30E-06	Transcription regulatory protein	BrainSpLMD|8019	OMIM|601541;COSMIC||lethal midline carcinoma of young people
EN-PFC2	TCEAL7	0.291358361	5.61E-06	Unclassified	BrainSpLMD|56849	OMIM|300771
EN-PFC2	DOK6	0.520584364	5.62E-06	Adapter molecule	BrainSpLMD|220164;Eurexp|euxassay_013254|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, spinal cord, trigeminal V	OMIM|611402
EN-PFC2	ZNF641	0.705916971	5.73E-06	Transcription factor	BrainSpLMD|121274	OMIM|613906
EN-PFC2	LPPR4	0.624270553	6.27E-06			
EN-PFC2	CDK19	0.414126052	6.42E-06	Serine/threonine kinase	BrainSpLMD|23097	OMIM|614720
EN-PFC2	CDK2AP1	0.279334454	6.50E-06	Unclassified	BrainSpLMD|8099	OMIM|602198
EN-PFC2	MYT1L.AS1	0.508546644	7.00E-06			
EN-PFC2	CDC123	0.334898934	7.47E-06	Cell cycle control protein	BrainSpLMD|8872	OMIM|617708
EN-PFC2	AREL1	1.193359458	7.49E-06	Enzyme: Ligase	BrainSpLMD|9870	OMIM|615380
EN-PFC2	GPR161	0.483490572	7.61E-06	G protein coupled receptor	BrainSpLMD|23432;BrainSpMouseDev|88778	OMIM|612250;HPO|23432|Delayed puberty, Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypoplasia of penis, Hypothyroidism, Short stature
EN-PFC2	CTC.308K20.3	0.438731787	7.62E-06			
EN-PFC2	RP11.556K13.1	0.298018087	7.75E-06			
EN-PFC2	PSMD2	0.282394792	8.06E-06	Ubiquitin proteasome system protein	BrainSpLMD|5708	OMIM|606223
EN-PFC2	TUBA1C	0.326296516	8.15E-06	Cytoskeletal protein	BrainSpLMD|84790	
EN-PFC2	PPIL1	0.508243535	8.64E-06	Enzyme: Isomerase	BrainSpLMD|51645;Eurexp|euxassay_005130|bladder, brain, hepatic duct, incisor, larynx, liver, lung, metanephros, midgut, molar, naso-lacrimal duct, olfactory, orbito-sphenoid, pharyngo-tympanic tube, rectum, respiratory, retina, spinal cord, stomach, submandibular gland primordium, tail, thymus primordium, thyroid, tongue, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|601301
EN-PFC2	SDK2	0.757021192	8.94E-06	Adhesion molecule	BrainSpLMD|54549;Eurexp|euxassay_009454|clavicle, femur, mantle layer, tongue, ventral grey horn, ventricular layer	OMIM|607217
EN-PFC2	LGALSL	0.824620018	8.97E-06		BrainSpLMD|29094;Eurexp|euxassay_002315|dorsal root ganglion, pectoral girdle and thoracic body wall, rib, submandibular gland primordium	
EN-PFC2	NUP93	0.346197441	9.01E-06	Membrane transport protein	BrainSpLMD|9688	OMIM|614351;HPO|9688|Autosomal recessive inheritance, Diffuse mesangial sclerosis, Hematuria, Progressive, Stage 5 chronic kidney disease
EN-PFC2	C14orf1	0.464507503	9.09E-06			
EN-PFC2	ACYP2	0.527735949	9.21E-06	Enzyme: Hydrolase	BrainSpLMD|98;Eurexp|euxassay_000133|myelohyoid, nucleus pulposus, pectoralis major, pectoralis minor, sublingual gland primordium, submandibular gland primordium, trigeminal V, turbinate, vagus X	OMIM|102595
EN-PFC2	CDC42P6	0.42077927	9.42E-06			
EN-PFC2	EDEM3	0.569306002	9.44E-06	Enzyme: Hydrolase	BrainSpLMD|80267	OMIM|610214
EN-PFC2	AP3B2	0.396442352	9.60E-06	Transport/cargo protein	BrainSpLMD|8120;Eurexp|euxassay_014714|adrenal gland, brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, testis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|602166;HPO|8120|Absent speech, Autosomal recessive inheritance, Dyskinesia, Epileptic encephalopathy, Generalized hypotonia, Global developmental delay, Poor eye contact, Rod-cone dystrophy
EN-PFC2	ATP5G1	0.259107075	9.66E-06			
EN-PFC2	KIAA0368	0.630667125	9.70E-06	Translation regulatory protein	BrainSpLMD|23392	OMIM|616694
EN-PFC2	SORL1	0.25629892	9.98E-06	Integral membrane protein	BrainSpLMD|6653;Eurexp|euxassay_012191|bladder, calyces, epithelium, left lung, mantle layer, midgut, olfactory, pelvis, rectum, right lung, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, ureter, ventricular layer;BrainSpMouseDev|20422	OMIM|602005
EN-PFC2	BCL9	0.488899226	1.00E-05	Unclassified	BrainSpLMD|607;Eurexp|euxassay_013718|mantle layer;BrainSpMouseDev|53418	OMIM|602597;COSMIC||B-ALL
EN-PFC2	NPIPB4	0.592790727	1.02E-05			
EN-PFC2	INPP4A	0.665994553	1.09E-05	Enzyme: Phosphatase	BrainSpLMD|3631;Eurexp|euxassay_011291|dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|600916
EN-PFC2	JMY	0.412956003	1.09E-05	Transcription regulatory protein	BrainSpLMD|133746	OMIM|604279
EN-PFC2	DDX24	0.418312278	1.13E-05	Transport/cargo protein	BrainSpLMD|57062	OMIM|606181
EN-PFC2	RP11.260M2.1	0.386157201	1.15E-05			
EN-PFC2	SHC3	0.603346994	1.17E-05	Adapter molecule	BrainSpLMD|53358;Eurexp|euxassay_009466|cochlear duct, ventral grey horn, ventricular layer	OMIM|605263
EN-PFC2	SMARCAD1	0.291493592	1.18E-05	DNA helicase	BrainSpLMD|56916	OMIM|612761;HPO|56916|Abnormal blistering of the skin, Abnormal dermatoglyphics, Adermatoglyphia, Autosomal dominant inheritance, Camptodactyly of finger, Clubbing, Ectodermal dysplasia, Epidermal acanthosis, Flexion contracture, Hypohidrosis, Milia, Palmar hyperkeratosis, Single transverse palmar crease, Skin rash, Tapered finger, Thickened skin, Thin skin
EN-PFC2	SCAMP5	0.445116191	1.18E-05	Integral membrane protein	BrainSpLMD|192683	OMIM|613766
EN-PFC2	UFM1	0.43582968	1.19E-05	Unclassified	BrainSpLMD|51569	OMIM|610553
EN-PFC2	PGK1	0.463340144	1.24E-05	Enzyme: Phosphotransferase	BrainSpLMD|5230;Eurexp|euxassay_018885|cerebral cortex, clavicle, diaphragm, dorsal root ganglion, facial VII, heart, incisor, lung, mandible, mantle layer, marginal layer, mesenchyme, metanephros, nasal cavity, nasal septum, nucleus pulposus, peripheral nervous system, physiological umbilical hernia, renal/urinary system, salivary gland, stomach, submandibular gland primordium, thymus primordium, tooth, trigeminal V, turbinate bones, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|311800;HPO|5230|Ataxia, Delayed speech and language development, Emotional lability, Exercise intolerance, Exercise-induced muscle cramps, Exercise-induced myoglobinuria, Intellectual disability, Migraine, Phenotypic variability, Reticulocytosis, Rhabdomyolysis, Seizures, X-linked recessive inheritance
EN-PFC2	DTX1	0.35917835	1.29E-05	Transcription regulatory protein	BrainSpLMD|1840;BrainSpMouseDev|14133	OMIM|602582
EN-PFC2	GS1.257G1.1	0.323748619	1.29E-05			
EN-PFC2	ACTR1A	0.51144026	1.32E-05	Cytoskeletal protein	BrainSpLMD|10121;Eurexp|euxassay_006567|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605143
EN-PFC2	PSD2	0.42591085	1.35E-05	Unclassified	BrainSpLMD|84249	
EN-PFC2	B4GALNT1	0.434248948	1.38E-05	Enzyme: Synthase	BrainSpLMD|2583;Eurexp|euxassay_002539|brain, diencephalon, dorsal root ganglion, facial VII, foregut-midgut junction, glossopharyngeal IX, hindbrain, hindgut, incisor, mantle layer, marginal layer, midbrain, midgut, molar, neural retina, spinal cord, stomach, stroma, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|601873
EN-PFC2	DLD	0.423095749	1.41E-05	Enzyme: Dehydrogenase	BrainSpLMD|1738	OMIM|238331;HPO|1738|Ataxia, Autosomal recessive inheritance, Dystonia, Elevated hepatic transaminases, Elevated plasma branched chain amino acids, Encephalopathy, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hepatic encephalopathy, Hepatomegaly, Hypercoagulability, Hypertrophic cardiomyopathy, Hypoglycemia, Increased serum lactate, Increased urine alpha-ketoglutarate concentration, Lactic acidosis, Lethargy, Metabolic acidosis, Microcephaly, Neurodevelopmental delay, Seizures, Spasticity, Variable expressivity, Vomiting
EN-PFC2	ZNF33A	0.473066196	1.43E-05	Transcription factor	BrainSpLMD|7581	OMIM|194521
EN-PFC2	USP9Y	0.591011944	1.52E-05	Ubiquitin proteasome system protein	BrainSpLMD|8287	SFARI||Autism, No category;OMIM|400005;HPO|8287|Azoospermia, Decreased testicular size, Male infertility, Non-obstructive azoospermia, Oligospermia, Y-linked inheritance
EN-PFC2	PEX11B	0.25097523	1.54E-05	Integral membrane protein	BrainSpLMD|8799	OMIM|603867;HPO|8799|Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the liver, Abnormality of the palate, Anteverted nares, Areflexia, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, Cataract, Chorioretinal abnormality, Clitoral hypertrophy, Cognitive impairment, Congenital cataract, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Death in infancy, Depressed nasal bridge, Developmental regression, Dolichocephaly, Dry skin, EEG abnormality, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Global developmental delay, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydrocele testis, Hydronephrosis, Hyperreflexia, Hypospadias, Intellectual disability, mild, Jaundice, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Migraine, Multicystic kidney dysplasia, Muscle weakness, Muscular hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Polymicrogyria, Polyneuropathy, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive hearing impairment, Progressive muscle weakness, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Respiratory insufficiency, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Skeletal dysplasia, Spasticity, Strabismus, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Urinary incontinence, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
EN-PFC2	RPL9P7	0.412331157	1.56E-05			
EN-PFC2	PHC1P1	0.503711143	1.56E-05			
EN-PFC2	TTC33	0.508792551	1.60E-05	Unclassified	BrainSpLMD|23548;Eurexp|euxassay_001924|brain, dorsal root ganglion, glossopharyngeal IX, olfactory, spinal cord, trigeminal V	
EN-PFC2	FAM200B	0.429644987	1.66E-05	-		
EN-PFC2	ZNRF1	0.530764973	1.67E-05	Ubiquitin proteasome system protein	BrainSpLMD|84937	OMIM|612060
EN-PFC2	RUSC1	0.483786302	1.70E-05	Adapter molecule	BrainSpLMD|23623;Eurexp|euxassay_007022|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|617318
EN-PFC2	NEUROD1	0.521190917	1.77E-05	Transcription factor	BrainSpLMD|4760;Eurexp|euxassay_019467|dorsal grey horn, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, pancreas, pineal primordium, pituitary, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17779	OMIM|601724;HPO|4760|Autosomal dominant inheritance, Maturity-onset diabetes of the young
EN-PFC2	ZNF250	0.485745355	1.79E-05	Transcription regulatory protein	BrainSpLMD|58500;Eurexp|euxassay_006176|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hypothalamus, lateral wall, mantle layer, mesenchyme, midbrain, midgut, retina, stomach, stroma, tegmentum, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|88584	
EN-PFC2	SNX14	0.403126783	1.80E-05	Transport/cargo protein	BrainSpLMD|57231	SFARI||Autism, No category;OMIM|616105;HPO|57231|Anteverted nares, Apraxia, Ataxia, Autistic behavior, Autosomal recessive inheritance, Babinski sign, Brachydactyly, Broad face, Broad philtrum, Camptodactyly, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral cortical atrophy, Clinodactyly, Coarse facial features, Delayed eruption of teeth, Dental crowding, Epicanthus, Generalized hypotonia, Global developmental delay, High palate, Hyporeflexia, Inability to walk, Infantile onset, Long philtrum, Prominent forehead, Relative macrocephaly, Short palpebral fissure, Spasticity, Talipes equinovarus, Thick vermilion border, Wide nasal base
EN-PFC2	NOP16	0.468805461	1.86E-05	Unclassified	BrainSpLMD|51491	OMIM|612861
EN-PFC2	CHCHD6	0.469169877	1.86E-05	Unclassified	BrainSpLMD|84303	OMIM|615634
EN-PFC2	MICU1	0.288488811	1.88E-05	Unclassified	BrainSpLMD|10367	OMIM|605084;HPO|10367|Autosomal recessive inheritance, Difficulty running, Difficulty walking, Elevated serum creatine phosphokinase, Motor delay
EN-PFC2	IRGQ	0.66275384	1.98E-05	Unclassified		
EN-PFC2	GOT1	0.366541926	1.99E-05	Enzyme: Aminotransferase	BrainSpLMD|2805;Eurexp|euxassay_018495|adrenal gland, brain, cortex, diaphragm, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, oral epithelium, spinal cord, stroma, thymus primordium, trigeminal V, vagus X, ventricle, vertebral axis muscle system	OMIM|138180
EN-PFC2	CASK	0.455566666	2.02E-05	Serine/threonine kinase	BrainSpLMD|8573	SFARI||Autism, 4 - Minimal evidence;OMIM|300172;HPO|8573|Absent speech, Broad forehead, Broad nasal tip, Cataract, Cerebellar hypoplasia, Cerebral cortical atrophy, Decreased body weight, Dilated fourth ventricle, Epicanthus, Gait disturbance, Generalized hypotonia, Global developmental delay, High palate, Hyperreflexia, Hypertelorism, Hypohidrosis, Intellectual disability, Intellectual disability, moderate, Large eyes, Long philtrum, Macrotia, Microcephaly, Micrognathia, Muscle weakness, Muscular hypotonia of the trunk, Myopia, Nystagmus, Oval face, Postnatal growth retardation, Progressive microcephaly, Prominent nasal bridge, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Short nose, Short stature, Spasticity, Strabismus, Visual impairment, Wide nasal bridge, X-linked dominant inheritance, X-linked inheritance
EN-PFC2	USP11	0.462688092	2.03E-05	Ubiquitin proteasome system protein	BrainSpLMD|8237;Eurexp|euxassay_015355|brain, dorsal root ganglion, spinal cord	OMIM|300050
EN-PFC2	CAMK1D	0.289418636	2.17E-05	Serine/threonine kinase	BrainSpLMD|57118	OMIM|607957
EN-PFC2	NDEL1	0.602133094	2.18E-05	Cell cycle control protein	BrainSpLMD|81565;Eurexp|euxassay_012621|clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, olfactory, orbito-sphenoid, trigeminal V, ventral grey horn, vomeronasal organ;BrainSpMouseDev|57675	OMIM|607538
EN-PFC2	SH3BGRL3	0.263700542	2.20E-05	Unclassified	BrainSpLMD|83442;Eurexp|euxassay_003517|basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, thymus primordium, trigeminal V, vagus X, ventral grey horn	OMIM|615679
EN-PFC2	TTL	0.429799109	2.22E-05	Enzyme: Ligase	BrainSpLMD|150465;Eurexp|euxassay_003613|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, ventral grey horn	OMIM|608291
EN-PFC2	TTC28	0.290551497	2.24E-05	Unclassified	BrainSpLMD|23331	OMIM|615098
EN-PFC2	MTCH2	0.496875342	2.26E-05	Unclassified	BrainSpLMD|23788;Eurexp|euxassay_002498|axial muscle, dorsal root ganglion, mantle layer, orbito-sphenoid, trigeminal V	OMIM|613221
EN-PFC2	FCHSD2	0.453298596	2.33E-05	Unclassified	BrainSpLMD|9873;Eurexp|euxassay_001442|dorsal root ganglion, trigeminal V	OMIM|617556
EN-PFC2	NCOA4	0.309112999	2.45E-05	Transcription regulatory protein	BrainSpLMD|8031	OMIM|601984;COSMIC||papillary thyroid;HPO|8031|Autosomal dominant inheritance, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma
EN-PFC2	DCTN1	0.493096531	2.49E-05	Cytoskeletal protein	BrainSpLMD|1639	OMIM|601143;COSMIC||inflammatory myofibroblastic tumour, Spitzoid tumour, Distal hereditary motor neuronopathy, susceptibility to amyotrophic lateral sclerosis, Perry syndrome;HPO|1639|Abnormal lower motor neuron morphology, Abnormality of metabolism/homeostasis, Adult onset, Amyotrophic lateral sclerosis, Anxiety, Apathy, Autosomal dominant inheritance, Bradykinesia, Central hypoventilation, Depressivity, Distal amyotrophy, Distal muscle weakness, Dysarthria, Dyspnea, Emotional lability, Facial palsy, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Hand muscle atrophy, Hand muscle weakness, Hypoventilation, Inappropriate behavior, Insomnia, Lower limb muscle weakness, Mask-like facies, Muscle cramps, Neurodegeneration, Pain, Paralysis, Parkinsonism, Rapidly progressive, Respiratory failure, Respiratory insufficiency, Rigidity, Short stepped shuffling gait, Skeletal muscle atrophy, Sleep disturbance, Slow progression, Spasticity, Tremor, Vertical supranuclear gaze palsy, Vocal cord paralysis, Weak voice, Weight loss, Xerostomia
EN-PFC2	PA2G4	0.368330326	2.54E-05	Transcription regulatory protein	BrainSpLMD|5036	OMIM|602145
EN-PFC2	C16orf45	0.510336515	2.62E-05	Unclassified	BrainSpLMD|89927;Eurexp|euxassay_002917|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, penis, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
EN-PFC2	CEBPZOS	0.274283036	2.69E-05			
EN-PFC2	CLTC	0.277824209	2.71E-05	Structural protein	BrainSpLMD|1213	OMIM|118955;COSMIC||ALCL, renal
EN-PFC2	CYCS	0.309576254	2.72E-05	Enzyme: Oxidase	BrainSpLMD|54205;Eurexp|euxassay_000644|Meckel's cartilage, basal plate, calyces, chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, molar, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|123970;HPO|54205|Autosomal dominant inheritance, Thrombocytopenia
EN-PFC2	MAPK8	0.502316433	2.75E-05	Serine/threonine kinase	BrainSpLMD|5599;Eurexp|euxassay_018521|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X;BrainSpMouseDev|26167	OMIM|601158
EN-PFC2	CCDC50	0.29161991	2.77E-05	Unclassified	BrainSpLMD|152137	OMIM|611051;HPO|152137|Autosomal dominant inheritance, Sensorineural hearing impairment
EN-PFC2	ABR	0.5860559	2.90E-05	GTPase activating protein	BrainSpLMD|29;Eurexp|euxassay_008421|brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, mesenchyme, mesothelium, midgut, naso-lacrimal duct, olfactory, peritoneal cavity, rib, right lung, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|600365
EN-PFC2	B3GALNT1	0.409441041	2.91E-05	Enzyme: Galactosyltransferase	BrainSpLMD|8706;Eurexp|euxassay_003465|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn	OMIM|603094
EN-PFC2	DUSP18	0.628063825	2.91E-05	Dual specificity phosphatase	BrainSpLMD|150290;Eurexp|euxassay_018622|brain, dorsal root ganglion, neural retina, olfactory, spinal cord, trigeminal V	OMIM|611446
EN-PFC2	CDKN2AIPNL	0.488056708	2.94E-05	Unclassified	BrainSpLMD|91368	
EN-PFC2	LINC00641	0.81320706	2.98E-05			
EN-PFC2	GNA12	0.892817067	2.98E-05	G protein	BrainSpLMD|2768	OMIM|604394
EN-PFC2	PRKAB2	0.272109284	3.00E-05	Regulatory/other subunit	BrainSpLMD|5565;Eurexp|euxassay_004124|dorsal root ganglion, mantle layer, spinal cord, trigeminal V	OMIM|602741
EN-PFC2	CNPY2	0.340893872	3.02E-05	Integral membrane protein	BrainSpLMD|10330	OMIM|605861
EN-PFC2	RUNDC1	0.344235997	3.10E-05	Unclassified	BrainSpLMD|146923	
EN-PFC2	TSPYL4	0.689856796	3.11E-05	Unclassified	BrainSpLMD|23270;Eurexp|euxassay_004360|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
EN-PFC2	CEP41	0.583757019	3.13E-05	Unclassified	BrainSpLMD|95681;Eurexp|euxassay_000172|muscle	SFARI||Autism, 3 - Suggestive evidence;OMIM|610523;HPO|95681|Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Cerebellar vermis hypoplasia, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Intellectual disability, Long face, Micropenis, Molar tooth sign on MRI, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Polydactyly, Retinal dystrophy
EN-PFC2	BCR	0.763411094	3.22E-05	Serine/threonine kinase	BrainSpLMD|613	OMIM|151410;COSMIC||CML, ALL, AML;HPO|613|Abnormality of basophils, Abnormality of earlobe, Absent fingernail, Absent toenail, Acute lymphoblastic leukemia, Chronic myelogenous leukemia, Clinodactyly of the 5th finger, Deeply set eye, Fatigue, Fever, Global developmental delay, Highly arched eyebrow, Intellectual disability, Intrauterine growth retardation, Language impairment, Leukocytosis, Microcephaly, Myeloproliferative disorder, Neoplasm, Pes planus, Ph-positive acute lymphoblastic leukemia, Pointed chin, Polygenic inheritance, Poor appetite, Premature birth, Short stature, Smooth philtrum, Somatic mutation, Splenomegaly, Thin upper lip vermilion, Thrombocytopenia, Thrombocytosis, Truncus arteriosus, Underdeveloped nasal alae
EN-PFC2	HYDIN2	0.609065081	3.23E-05			OMIM|610813
EN-PFC2	IGSF3	0.396409007	3.43E-05	Integral membrane protein	BrainSpLMD|3321	OMIM|603491;HPO|3321|Autosomal dominant inheritance, Autosomal recessive inheritance, Dacryocystocele, Increased lacrimation, Lacrimal duct atresia
EN-PFC2	SPCS3	0.619958071	3.44E-05	Protease	BrainSpLMD|60559	
EN-PFC2	RABL2A	0.961634919	3.46E-05	GTPase		OMIM|605412
EN-PFC2	FBXO44	0.834166857	3.48E-05	Ubiquitin proteasome system protein	BrainSpLMD|93611	OMIM|609111
EN-PFC2	PSMD1	0.306957179	3.62E-05	Ubiquitin proteasome system protein	BrainSpLMD|5707;Eurexp|euxassay_016545|dorsal root ganglion, lung, mantle layer, olfactory, thymus primordium, ventral grey horn	
EN-PFC2	CCSER1	0.45106245	3.69E-05	Unclassified	BrainSpLMD|401145;Eurexp|euxassay_016073|cervical, cervico-thoracic, facial VII, glossopharyngeal IX, mantle layer, marginal layer, metanephros, thoracic, trachea	
EN-PFC2	UQCRC2	0.316654144	3.85E-05	Enzyme: Reductase	BrainSpLMD|7385;Eurexp|euxassay_018923|aorta, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, vibrissa	OMIM|191329;HPO|7385|Autosomal recessive inheritance, Hyperammonemia, Hypoglycemia, Increased serum lactate, Increased serum pyruvate, Metabolic acidosis
EN-PFC2	PTCHD3P1	0.369530237	3.88E-05			
EN-PFC2	GPR155	0.374090918	3.94E-05	G protein coupled receptor	BrainSpLMD|151556	
EN-PFC2	CUX2	0.658443866	4.02E-05	Transcription factor	BrainSpMouseDev|12829	OMIM|610648
EN-PFC2	RAB14	0.338219799	4.09E-05	GTPase	BrainSpLMD|51552	OMIM|612673
EN-PFC2	PSMB5	0.300776333	4.27E-05	Ubiquitin proteasome system protein	BrainSpLMD|5693;Eurexp|euxassay_005692|embryo	OMIM|600306
EN-PFC2	CIAPIN1	0.256614728	4.29E-05	Unclassified	BrainSpLMD|57019;Eurexp|euxassay_003162|cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, molar, neural retina, olfactory, stroma, submandibular gland primordium, thoracic, trigeminal V, urethra, vagus X, vestibulocochlear VIII	OMIM|608943
EN-PFC2	WDR12	0.815489707	4.31E-05	Unclassified	BrainSpLMD|55759;Eurexp|euxassay_005293|embryo;BrainSpMouseDev|37022	OMIM|616620
EN-PFC2	CYB5A	0.438291681	4.46E-05	Enzyme: Oxidoreductase	BrainSpLMD|1528	OMIM|613218;HPO|1528|Abnormality of creatine metabolism, Abnormality of metabolism/homeostasis, Absence of secondary sex characteristics, Autosomal recessive inheritance, Cryptorchidism, Cyanosis, Decreased fertility in females, Decreased fertility in males, Decreased serum estradiol, Decreased serum testosterone level, Decreased testicular size, Delayed puberty, Delayed skeletal maturation, Dysmenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Hypoplasia of the vagina, Hypospadias, Infantile onset, Male pseudohermaphroditism, Methemoglobinemia, Micropenis, Osteoporosis, Primary amenorrhea, Primary gonadal insufficiency, Short stature, Sparse axillary hair, Sparse body hair, Sparse pubic hair
EN-PFC2	ZNF423	0.356287017	4.47E-05	DNA binding protein	BrainSpLMD|23090	OMIM|604557;HPO|23090|Apnea, Ataxia, Autistic behavior, Autosomal dominant inheritance, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Global developmental delay, Intellectual disability, Iris coloboma, Long face, Low-set, posteriorly rotated ears, Molar tooth sign on MRI, Muscular hypotonia, Nephronophthisis, Nephropathy, Nystagmus, Phenotypic variability, Polycystic kidney dysplasia, Ptosis, Retinal dystrophy, Tachypnea
EN-PFC2	BTF3L4P2	0.314689089	4.59E-05			
EN-PFC2	TSPYL5	0.536501578	4.66E-05	Unclassified	BrainSpLMD|85453	OMIM|614721
EN-PFC2	KLHL8	0.681870111	4.68E-05	Unclassified	BrainSpLMD|57563;Eurexp|euxassay_008140|mantle layer, marginal layer	OMIM|611967
EN-PFC2	EXOSC7	0.373232479	5.37E-05	Ribonuclease	BrainSpLMD|23016;Eurexp|euxassay_012334|cortex, incisor, liver, medullary stroma, molar, pancreas, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|606488
EN-PFC2	GPR137C	0.470365146	5.49E-05			
EN-PFC2	NDFIP1	0.40826969	5.61E-05	Adapter molecule	BrainSpLMD|80762;Eurexp|euxassay_010361|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, maxilla, midgut, neural retina, rib, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612050
EN-PFC2	EBNA1BP2	1.000116822	5.95E-05	Unclassified	BrainSpLMD|10969	OMIM|614443
EN-PFC2	EXOC6	0.746235694	6.02E-05	Membrane transport protein	BrainSpLMD|54536;Eurexp|euxassay_001597|bladder, diencephalon, dorsal root ganglion, hindbrain, lobe, mantle layer, marginal layer, midbrain, spinal cord, thymus primordium, tongue, trigeminal V, vagus X	SFARI||Autism, No category;OMIM|609672
EN-PFC2	SS18L1	0.711271105	6.05E-05	Transcription regulatory protein	BrainSpLMD|26039;BrainSpMouseDev|92739	OMIM|606472;COSMIC||synovial sarcoma
EN-PFC2	UBE2R2	0.530417914	6.05E-05	Ubiquitin proteasome system protein	BrainSpLMD|54926	OMIM|612506
EN-PFC2	TATDN1	0.711486584	6.11E-05	Unclassified	BrainSpLMD|83940	
EN-PFC2	PPP1R11	0.283203925	6.27E-05	Regulatory/other subunit	BrainSpLMD|6992;Eurexp|euxassay_007087|embryo	OMIM|606670
EN-PFC2	NAE1	0.378144608	6.39E-05	Adapter molecule	BrainSpLMD|8883	OMIM|603385
EN-PFC2	VPS13C	0.251376631	6.48E-05	Unclassified	BrainSpLMD|54832	OMIM|608879;HPO|54832|Abnormal pyramidal signs, Akinesia, Autosomal recessive inheritance, Cerebral cortical atrophy, Dementia, Lewy bodies, Neurofibrillary tangles, Parkinsonism, Progressive, Resting tremor
EN-PFC2	ECHS1	0.367348219	6.51E-05	Enzyme: Hydratase	BrainSpLMD|1892;Eurexp|euxassay_018892|adrenal gland, axial muscle, cortex, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|602292;HPO|1892|Apnea, Autosomal recessive inheritance, Dystonia, Generalized hypotonia, Global developmental delay, Increased CSF lactate, Increased serum lactate, Nystagmus, Spasticity
EN-PFC2	PRKAR1A	0.396427239	6.54E-05	Serine/threonine kinase	BrainSpLMD|5573;Eurexp|euxassay_001469|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V	OMIM|188830;COSMIC||papillary thyroid, myxoma, endocrine, papillary thyroid;HPO|5573|Abnormal form of the vertebral bodies, Abnormal prolactin level, Abnormality of circulating adrenocorticotropin level, Abnormality of female external genitalia, Abnormality of immune system physiology, Abnormality of the eye, Abnormality of the nail, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Adrenal hyperplasia, Agitation, Anteverted nares, Anxiety, Autism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bacterial endocarditis, Blue irides, Blue nevus, Brachycephaly, Brachydactyly, Broad nasal tip, Broad palm, Bruising susceptibility, Calvarial hyperostosis, Cardiac myxoma, Cerebral venous thrombosis, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Congenital craniofacial dysostosis, Congenital hypothyroidism, Congestive heart failure, Cryptorchidism, Decreased circulating ACTH level, Delayed eruption of teeth, Delayed speech and language development, Dental malocclusion, Depressed nasal bridge, Depressed nasal ridge, Depressivity, Diabetes mellitus, Dislocated radial head, Disproportionate short-limb short stature, Easy fatigability, Elevated calcitonin, Elevated circulating parathyroid hormone level, Enlarged polycystic ovaries, Epicanthus, Epiphyseal stippling, Exertional dyspnea, Fatigue, Freckling, Global developmental delay, Growth hormone deficiency, Growth hormone excess, Hearing impairment, Heart murmur, Heterogeneous, Hirsutism, Hydrocephalus, Hyperactivity, Hyperphosphatemia, Hypertelorism, Hypertension, Hypocalcemia, Hypodontia, Hypogonadism, Hypoplasia of the maxilla, Hypoplasia of the nasal bone, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic vertebral bodies, Hypospadias, Increased circulating cortisol level, Increased intracranial pressure, Increased susceptibility to fractures, Increased urinary cortisol level, Intellectual disability, Intrauterine growth retardation, Kyphosis, Long hallux, Malar flattening, Mandibular prognathia, Melanocytic nevus, Menstrual irregularities, Mental deterioration, Micromelia, Midface retrusion, Mild postnatal growth retardation, Mild short stature, Mood changes, Multiple lentigines, Muscle weakness, Myxoid subcutaneous tumors, Narrow vertebral interpedicular distance, Neonatal epiphyseal stippling, Nevus, Non-medullary thyroid carcinoma, Obesity, Onset, Open mouth, Optic atrophy, Osteopenia, Osteoporosis, Papillary thyroid carcinoma, Paradoxical increased cortisol secretion on dexamethasone suppression test, Peripheral Schwannoma, Peripheral neuropathy, Pheochromocytoma, Pigmented micronodular adrenocortical disease, Pituitary adenoma, Pituitary growth hormone cell adenoma, Primary hypercorticolism, Profuse pigmented skin lesions, Pseudohypoparathyroidism, Psychosis, Pulmonic valve myxoma, Red hair, Round face, Schwannoma, Scoliosis, Short metacarpal, Short metatarsal, Short nose, Short palm, Short phalanx of finger, Short stature, Short toe, Skeletal muscle atrophy, Slender build, Specific learning disability, Spinal canal stenosis, Strabismus, Striae distensae, Thin skin, Thyroid adenoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Truncal obesity, Vestibular Schwannoma, Wide nasal bridge
EN-PFC2	HCG18	0.304572712	6.75E-05			
EN-PFC2	CCDC23	0.292576772	6.76E-05			
EN-PFC2	TMSB4XP4	0.677025275	6.95E-05	-		
EN-PFC2	RAB18	0.331845619	7.00E-05	GTPase	BrainSpLMD|22931	OMIM|602207;HPO|22931|Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Ankle clonus, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Blepharophimosis, Brachycephaly, Cataract, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Clitoral hypoplasia, Congenital cataract, Cortical visual impairment, Cryptorchidism, Decreased testicular size, Delayed puberty, Downturned corners of mouth, Flexion contracture, Generalized hirsutism, Global developmental delay, High palate, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplastic labia minora, Intellectual disability, profound, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphoscoliosis, Kyphosis, Lissencephaly, Low anterior hairline, Low-set, posteriorly rotated ears, Macrotia, Microcephaly, Microcornea, Micrognathia, Micropenis, Microphthalmia, Muscular hypotonia, Muscular hypotonia of the trunk, Narrow palate, Nystagmus, Optic atrophy, Pachygyria, Polymicrogyria, Postnatal growth retardation, Postnatal microcephaly, Scoliosis, Scrotal hypoplasia, Seizures, Shallow anterior chamber, Short nose, Short philtrum, Short stature, Spastic tetraplegia, Spasticity, Ventriculomegaly, Wide nasal bridge
EN-PFC2	FAM134B	0.465099151	7.07E-05			
EN-PFC2	RP11.212F11.1	0.598025973	7.20E-05			
EN-PFC2	TNFRSF21	0.319642896	7.21E-05	Cell surface receptor	BrainSpLMD|27242;Eurexp|euxassay_012361|anterior, brain, calyces, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, lip, meninges, mesenchyme, olfactory, pelvis, posterior, right lung, spinal cord, stomach, trigeminal V, ureter, utricle, vagus X, vestibulocochlear VIII	OMIM|605732
EN-PFC2	ENOX1	0.898076341	7.28E-05	RNA binding protein	BrainSpLMD|55068;Eurexp|euxassay_010501|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610914
EN-PFC2	ATP6V1E1	0.417851316	7.38E-05	ATPase	BrainSpLMD|529;Eurexp|euxassay_018854|adrenal gland, basal plate, calyces, cochlear component, dorsal root ganglion, facial VII, inferior, superior, testis, trigeminal V, vagus X, vestibular component	OMIM|108746;HPO|529|Abnormal apolipoprotein level, Abnormal isoelectric focusing of serum transferrin, Abnormal subcutaneous fat tissue distribution, Aortic regurgitation, Atrial septal defect, Autosomal recessive inheritance, Bilateral cryptorchidism, Broad columella, Broad nasal tip, Carious teeth, Cerebellar hypoplasia, Coarse hair, Congenital hip dislocation, Dandy-Walker malformation, Decreased body weight, Decreased muscle mass, Delayed closure of the anterior fontanelle, Delayed speech and language development, Dementia, Dental crowding, Disproportionate tall stature, Downslanted palpebral fissures, Entropion, Excessive wrinkled skin, Failure to thrive, Feeding difficulties, Fragmented elastic fibers in the dermis, Generalized hypotonia, Generalized joint laxity, Global developmental delay, Hand clenching, High palate, Hip dysplasia, Hypertelorism, Infantile muscular hypotonia, Inguinal hernia, Intellectual disability, profound, Intrauterine growth retardation, Joint laxity, Knee flexion contracture, Kyphoscoliosis, Laryngomalacia, Lipodystrophy, Lissencephaly, Long philtrum, Low-set ears, Malar flattening, Mitral valve prolapse, Motor delay, Narrow naris, Nystagmus, Pachygyria, Pes planus, Polymicrogyria, Poor speech, Postnatal growth retardation, Progressive microcephaly, Prominent nasolabial fold, Prominent veins on trunk, Psychomotor deterioration, Reduced subcutaneous adipose tissue, Redundant neck skin, Seizures, Severe Myopia, Short nose, Short stature, Smooth philtrum, Sparse hair, Spasticity, Strabismus, Subretinal pigment epithelium hemorrhage, Talipes equinovarus, Thick cerebral cortex, Thick hair, Tricuspid regurgitation
EN-PFC2	UNC80	0.456229903	7.42E-05	Unclassified	BrainSpLMD|285175	SFARI||Autism, 4 - Minimal evidence;OMIM|612636;HPO|285175|Anteverted nares, Autosomal recessive inheritance, Brachycephaly, Broad forehead, Bulbous nose, Constipation, Epicanthus, Failure to thrive in infancy, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global brain atrophy, High forehead, Intellectual disability, profound, Low-set ears, Nystagmus, Open mouth, Osteopenia, Plagiocephaly, Posteriorly rotated ears, Profound static encephalopathy, Prominent forehead, Prominent nasal bridge, Prominent nose, Ptosis, Short neck, Short philtrum, Smooth philtrum, Spasticity, Tapered finger, Thin upper lip vermilion, Triangular face
EN-PFC2	AC011043.1	0.728032664	7.58E-05			
EN-PFC2	DYRK2	0.611715289	7.62E-05	Tyrosine kinase	BrainSpLMD|8445;Eurexp|euxassay_016272|mantle layer	OMIM|603496
EN-PFC2	AZIN1	0.313339302	7.74E-05	Unclassified	BrainSpLMD|51582	OMIM|607909
EN-PFC2	POU2F2	0.553615345	8.14E-05	Transcription factor	BrainSpLMD|5452;Eurexp|euxassay_019622|mantle layer;BrainSpMouseDev|18750	OMIM|164176
EN-PFC2	RNF187	0.2879468	8.40E-05	Unclassified		OMIM|613754
EN-PFC2	NSDHL	1.128844411	9.22E-05	Enzyme: Dehydrogenase	BrainSpLMD|50814	OMIM|300275;HPO|50814|Abnormal cortical bone morphology, Abnormality of digit, Abnormality of the cardiac septa, Abnormality of the nail, Aggressive behavior, Almond-shaped palpebral fissure, Aplasia/hypoplasia of the extremities, Cleft upper lip, Congenital ichthyosiform erythroderma, Delayed speech and language development, Dental crowding, Epicanthus, Epiphyseal stippling, Generalized hypotonia, Global developmental delay, Heterogeneous, High palate, Hydronephrosis, Hyperactivity, Hyperkeratosis, Hyperlordosis, Hypoplastic pelvis, Intellectual disability, Intellectual disability, mild, Irritability, Joint hypermobility, Kyphosis, Long face, Malar flattening, Microcephaly, Micrognathia, Mild intrauterine growth retardation, Narrow face, Pachygyria, Parakeratosis, Polymicrogyria, Posteriorly rotated ears, Prominent nasal bridge, Retrognathia, Scoliosis, Seizures, Single ventricle, Sleep disturbance, Slender build, Strabismus, Umbilical hernia, Upslanted palpebral fissure, X-linked dominant inheritance, X-linked recessive inheritance
EN-PFC2	YAE1D1	0.322533566	9.50E-05	Unclassified	BrainSpLMD|57002	
EN-PFC2	FAHD1	0.472200159	9.59E-05	Unclassified	BrainSpLMD|81889	OMIM|616320
EN-PFC2	ABHD17C	0.826893275	9.59E-05	Unclassified	Eurexp|euxassay_003396|bladder, calyces, dorsal root ganglion, epidermis, facial VII, glossopharyngeal IX, hindgut, incisor, loop, midgut, oesophagus, pancreas, pharyngo-tympanic tube, rectum, stomach, submandibular gland primordium, testis, trigeminal V, urethra, vestibulocochlear VIII, vibrissa	
EN-PFC2	GRINA	0.333558953	0.000101015	Integral membrane protein	BrainSpLMD|2907	OMIM|138251
EN-PFC2	SH3PXD2A	0.819752041	0.000102159	Adapter molecule	BrainSpLMD|9644;Eurexp|euxassay_012261|clavicle, meninges, mesenchyme, skeletal muscle, ventricular layer	
EN-PFC2	OSBPL8	0.377302052	0.000109526	Transport/cargo protein	BrainSpLMD|114882;Eurexp|euxassay_014229|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, trigeminal V, ventricle, vestibulocochlear VIII	OMIM|606736
EN-PFC2	ZNF667.AS1	0.491867275	0.000116299			
EN-PFC2	HSF2	0.347738889	0.000117011	Heat shock protein	BrainSpLMD|3298	OMIM|140581
EN-PFC2	MASP1	0.898447296	0.000117618	Serine protease	BrainSpLMD|5648	OMIM|600521;HPO|5648|Abnormality of eye movement, Abnormality of the anterior chamber, Atrial septal defect, Autosomal recessive inheritance, Bilateral cryptorchidism, Blepharophimosis, Broad foot, Caudal appendage, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Conductive hearing impairment, Conjunctival telangiectasia, Coronal craniosynostosis, Craniosynostosis, Dental crowding, Diastasis recti, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus inversus, Glaucoma, Growth delay, Hearing impairment, Highly arched eyebrow, Hydronephrosis, Hyperlordosis, Hypertelorism, Intellectual disability, Intellectual disability, mild, Lambdoidal craniosynostosis, Large fleshy ears, Limited pronation/supination of forearm, Microcephaly, Omphalocele, Oral cleft, Patent ductus arteriosus, Postnatal growth retardation, Ptosis, Radioulnar synostosis, Sacral dimple, Scoliosis, Short 5th finger, Short foot, Single interphalangeal crease of fifth finger, Skull asymmetry, Spina bifida occulta, Supernumerary nipple, Telecanthus, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide anterior fontanel
EN-PFC2	AMPH	0.525685201	0.000117714	Adapter molecule	BrainSpLMD|273	OMIM|600418
EN-PFC2	PPM1A	0.483437104	0.000117963	Serine/threonine phosphatase	BrainSpLMD|5494;Eurexp|euxassay_003492|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, testis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|606108
EN-PFC2	ZUFSP	0.41224803	0.000118422	DNA binding protein	BrainSpLMD|221302	
EN-PFC2	ATAD1	0.652026631	0.000119025	ATPase	BrainSpLMD|84896;Eurexp|euxassay_001713|brain, cervico-thoracic, cortex, dorsal root ganglion, glossopharyngeal IX, spinal cord, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614452
EN-PFC2	SRSF8	0.520025773	0.00012499	Transcription regulatory protein		OMIM|603269
EN-PFC2	C5orf42	0.550124104	0.000125239	Unclassified	BrainSpLMD|65250	OMIM|614571;HPO|65250|Abnormality of peripheral nerve conduction, Accessory oral frenulum, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Brachydactyly, Broad nasal tip, Central Y-shaped metacarpal, Cerebellar vermis hypoplasia, Cleft palate, Cleft upper lip, Clinodactyly, Conductive hearing impairment, Degeneration of anterior horn cells, Distal upper limb amyotrophy, EMG abnormality, Epicanthus, Episodic tachypnea, Esotropia, Failure to thrive, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, High palate, Hypertelorism, Hyperventilation, Hypothalamic hamartoma, Intellectual disability, Long face, Low-set ears, Mesoaxial hand polydactyly, Micrognathia, Molar tooth sign on MRI, Muscle weakness, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Postaxial polydactyly, Posteriorly rotated ears, Preaxial foot polydactyly, Preaxial hand polydactyly, Radial deviation of finger, Renal agenesis, Renal dysplasia, Short stature, Toe syndactyly, Tongue nodules
EN-PFC2	WDR82	0.474480272	0.000128104	Integral membrane protein	BrainSpLMD|80335	OMIM|611059
EN-PFC2	SRSF12	0.428845591	0.000132981	RNA binding protein	BrainSpLMD|135295	
EN-PFC2	KCTD10	0.502796178	0.000137026	Ion channel	BrainSpLMD|83892;Eurexp|euxassay_010579|clavicle, mandible, maxilla, midgut, rib	OMIM|613421
EN-PFC2	TIMM17A	0.32499784	0.00013794	Enzyme: Translocase	BrainSpLMD|10440	OMIM|605057
EN-PFC2	COMMD7	0.512275888	0.00015196	Unclassified		OMIM|616703
EN-PFC2	GOLGA8B	0.252281117	0.000152148	Unclassified	BrainSpLMD|440270	OMIM|609619
EN-PFC2	ZNHIT3	0.434207117	0.000156422	Transcription regulatory protein	BrainSpLMD|9326;Eurexp|euxassay_019512|liver, pancreas, submandibular gland primordium, thymus primordium, vibrissa	OMIM|604500;HPO|9326|Abnormality of eye movement, Abnormality of movement, Abnormality of the hand, Abnormality of the palate, Abnormality of upper lip, Anteverted nares, Atrophy/Degeneration affecting the brainstem, Autosomal recessive inheritance, Biparietal narrowing, Cerebellar atrophy, Cerebral cortical atrophy, Developmental stagnation, Drowsiness, Edema, Edema of the lower limbs, Epicanthus, External ear malformation, Feeding difficulties, Feeding difficulties in infancy, Full cheeks, Gingival overgrowth, Global developmental delay, Hydrocephalus, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile encephalopathy, Infantile spasms, Intellectual disability, profound, Intellectual disability, severe, Limitation of joint mobility, Macrotia, Malar flattening, Microcephaly, Midface retrusion, Myoclonus, Narrow forehead, Neuronal loss in central nervous system, Open mouth, Optic atrophy, Pachygyria, Palpebral edema, Peripheral dysmyelination, Peripheral edema, Polymicrogyria, Porencephalic cyst, Progressive microcephaly, Recurrent respiratory infections, Retrognathia, Seizures, Severe muscular hypotonia, Short nose, Tapered finger, Tented upper lip vermilion, Undetectable visual evoked potentials, Ventriculomegaly, Visual loss
EN-PFC2	RASSF2	0.427110545	0.000158924	Cell cycle control protein	BrainSpLMD|9770;Eurexp|euxassay_010507|meninges, valve, ventricular layer	OMIM|609492
EN-PFC2	RP11.15J10.1	0.350545588	0.000159044			
EN-PFC2	FAM135A	0.806621291	0.000161588	Unclassified	BrainSpLMD|57579	
EN-PFC2	PCYOX1	0.252769768	0.000162062	Enzyme: Oxidase	BrainSpLMD|51449;Eurexp|euxassay_012457|dorsal root ganglion, floor plate, floorplate, glossopharyngeal IX, mantle layer, pituitary, trigeminal V, ventral grey horn, vibrissa	OMIM|610995
EN-PFC2	LRRC3B	0.370724052	0.000162554	Unclassified	BrainSpLMD|116135	
EN-PFC2	GDI2	0.30706071	0.000164982	Membrane transport protein	BrainSpLMD|2665	OMIM|600767
EN-PFC2	ZNF605	0.4240361	0.00016642			
EN-PFC2	CAMLG	0.300863924	0.000166459	Membrane bound ligand	BrainSpLMD|819;Eurexp|euxassay_001896|dorsal root ganglion, trigeminal V	OMIM|601118
EN-PFC2	GFM1	0.359179835	0.000168411	Translation regulatory protein	BrainSpLMD|85476	OMIM|606639;HPO|85476|Autosomal recessive inheritance, Basal ganglia cysts, Cholestasis, Congenital onset, Delayed myelination, Feeding difficulties, Fulminant hepatic failure, Global brain atrophy, Hepatomegaly, Hyperreflexia, Hypokinesia, Hypoplasia of the corpus callosum, Increased CSF lactate, Increased serum lactate, Intrauterine growth retardation, Metabolic acidosis, Microcephaly, Motor delay, Muscular hypotonia of the trunk, Nystagmus, Poor eye contact, Seizures, Spasticity
EN-PFC2	EHBP1	0.277019894	0.000169135	Unclassified	BrainSpLMD|23301	OMIM|609922
EN-PFC2	ROGDI	0.807646967	0.000175532	Unclassified	BrainSpLMD|79641;Eurexp|euxassay_003486|calyces, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, trigeminal V, vestibulocochlear VIII	OMIM|614574;HPO|79641|Amelogenesis imperfecta, Ataxia, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral atrophy, Dementia, Developmental regression, EEG abnormality, Epileptic encephalopathy, Hypohidrosis, Hypoplasia of dental enamel, Hypsarrhythmia, Intellectual disability, severe, Seizures, Spasticity, Variable expressivity, Ventriculomegaly, Yellow-brown discoloration of the teeth
EN-PFC2	CDK5	0.560228469	0.000181634	Serine/threonine kinase	BrainSpLMD|1020;BrainSpMouseDev|12353	OMIM|123831;HPO|1020|Agenesis of corpus callosum, Areflexia, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Cerebellar hypoplasia, Congenital onset, Full cheeks, Global developmental delay, Hand clenching, Hirsutism, Lissencephaly, Lymphedema, Microcephaly, Micrognathia, Short neck
EN-PFC2	PPP2R3A	0.305094266	0.000185154	Serine/threonine phosphatase;Regulatory/other subunit	BrainSpLMD|5523;Eurexp|euxassay_012481|skeletal muscle, ventricle, vertebral axis muscle system	OMIM|604944
EN-PFC2	PCSK7	0.250274679	0.000188786	Serine protease	BrainSpLMD|9159	OMIM|604872
EN-PFC2	UBLCP1	0.608734821	0.000189261	Enzyme: Phosphatase	BrainSpLMD|134510	OMIM|609867
EN-PFC2	SLC30A9	0.432546338	0.00019056	Transcription regulatory protein	BrainSpLMD|10463;Eurexp|euxassay_010926|facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|604604
EN-PFC2	USP10	0.336365415	0.00019098	Ubiquitin proteasome system protein	BrainSpLMD|9100	OMIM|609818
EN-PFC2	RPL7L1	0.337446396	0.00019344	Ribosomal subunit	Eurexp|euxassay_007021|embryo	OMIM|617417
EN-PFC2	POLR3E	0.366696915	0.000197157	RNA polymerase	BrainSpLMD|55718;Eurexp|euxassay_003027|calyces, chondrocranium, foregut-midgut junction, hindgut, midgut, stomach, submandibular gland primordium	
EN-PFC2	MT.TN	0.419015248	0.000205757			
EN-PFC2	GPHN	0.369438203	0.000210085	Anchor protein;Unclassified	BrainSpLMD|10243;Eurexp|euxassay_000272|marginal layer, ventral grey horn	SFARI||Autism, 3 - Suggestive evidence;OMIM|603930;COSMIC||AL;HPO|10243|Apnea, Aspiration, Autosomal dominant inheritance, Autosomal recessive inheritance, Exaggerated startle response, Feeding difficulties, Frequent falls, Generalized tonic-clonic seizures, Hip dislocation, Hyperreflexia, Hypertonia, Hypokinesia, Infantile onset, Inguinal hernia, Molybdenum cofactor deficiency, Muscular hypotonia of the trunk, Myoclonus, Polymicrogyria, Poor eye contact, Poor head control, Seizures, Spontaneous abortion, Umbilical hernia
EN-PFC2	MKL2	0.281306274	0.000211259	Transcription factor	BrainSpLMD|57496	SFARI||Autism, 4 - Minimal evidence;OMIM|609463
EN-PFC2	WDR7	0.537943068	0.000215312	Unclassified	BrainSpLMD|23335;Eurexp|euxassay_012727|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vomeronasal organ	OMIM|613473
EN-PFC2	MYO9A	0.276496214	0.000222593	Motor protein	BrainSpLMD|4649	OMIM|604875
EN-PFC2	ISG20L2	0.396750154	0.000223161	Unclassified	BrainSpLMD|81875;Eurexp|euxassay_015937|dorsal root ganglion, incisor, metanephros, molar, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|611930
EN-PFC2	CCDC136	0.407518551	0.000224556	Unclassified	BrainSpLMD|64753	OMIM|611902
EN-PFC2	KIAA1841	0.351783994	0.000229255	Unclassified	BrainSpLMD|84542;Eurexp|euxassay_014689|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
EN-PFC2	ACTR10	0.281895489	0.000230954	Cytoskeletal associated protein	BrainSpLMD|55860	
EN-PFC2	RAD17	0.299543075	0.000242146	Cell cycle control protein	BrainSpLMD|5884	OMIM|603139
EN-PFC2	NECAP1	0.270124158	0.000248109	Unclassified	BrainSpLMD|25977	OMIM|611623;HPO|25977|Autosomal recessive inheritance, Decreased fetal movement, Epileptic encephalopathy, Feeding difficulties, Generalized hypotonia, Global developmental delay, Muscular hypotonia of the trunk
EN-PFC2	CDC27	0.562320599	0.000250486	Cell cycle control protein	BrainSpLMD|996	OMIM|116946
EN-PFC2	SHOC2	0.482436634	0.000251616	Adapter molecule	BrainSpLMD|8036;Eurexp|euxassay_004370|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	OMIM|602775;HPO|8036|Anteverted nares, Aplasia/Hypoplasia of the eyebrow, Atrial septal defect, Autosomal dominant inheritance, Deep philtrum, Delayed skeletal maturation, Epicanthus, Hydrocephalus, Hyperactivity, Hypertelorism, Hypertrophic cardiomyopathy, Intellectual disability, Loose anagen hair, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Pectus excavatum, Polyhydramnios, Posteriorly rotated ears, Prominent forehead, Pulmonic stenosis, Short neck, Short nose, Short stature, Sparse scalp hair, Strabismus, Ventricular septal defect, Webbed neck
EN-PFC2	ELP3	0.525422359	0.000262564	Enzyme: Acyltransferase	BrainSpLMD|55140	OMIM|612722
EN-PFC2	RP11.147L13.12	0.419080145	0.000265012			
EN-PFC2	DCTN2	0.264842883	0.000272965	Motor protein	BrainSpLMD|10540	OMIM|607376
EN-PFC2	GPS1	0.431211339	0.000273695	Unclassified	BrainSpLMD|2873	OMIM|601934
EN-PFC2	UCHL3	0.458664536	0.000275437	Ubiquitin proteasome system protein	BrainSpLMD|7347	OMIM|603090
EN-PFC2	SEMA6D	0.761924498	0.000275756	Membrane bound ligand	BrainSpLMD|80031;Eurexp|euxassay_010735|dorsal root ganglion, embryo, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|84750	OMIM|609295
EN-PFC2	TDG	0.573566472	0.000276213	DNA repair protein	BrainSpLMD|6996	OMIM|601423
EN-PFC2	REC8	0.408088778	0.000277403	Cell cycle control protein	BrainSpLMD|9985;Eurexp|euxassay_012260|cochlea, lung, mantle layer, metanephros, olfactory, ovary, pancreas, pituitary, stomach, thyroid, trigeminal V, urethra, ventral grey horn, ventricular layer	OMIM|608193
EN-PFC2	CBWD3	0.370719716	0.000280831		BrainSpLMD|445571	OMIM|611080
EN-PFC2	ARF3	0.303905288	0.000292084	G protein	BrainSpLMD|377	OMIM|103190
EN-PFC2	TUBBP2	0.297428751	0.000301199			
EN-PFC2	BSN	0.329593401	0.00030291	Transcription factor	BrainSpLMD|8927;Eurexp|euxassay_008029|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|604020
EN-PFC2	SLC4A8	0.359080523	0.000312138	Membrane transport protein	BrainSpLMD|9498;Eurexp|euxassay_002110|adrenal gland, brain, calyces, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, pelvis, spinal cord, stroma, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|605024
EN-PFC2	C12orf45	0.600601364	0.000318535	Unclassified		
EN-PFC2	POLR1D	0.420205484	0.000318865	RNA polymerase	BrainSpLMD|51082;Eurexp|euxassay_002352|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|19781	OMIM|613715;HPO|51082|Abnormality of bone mineral density, Absent eyelashes, Autosomal dominant inheritance, Choanal atresia, Choanal stenosis, Cleft eyelid, Cleft palate, Conductive hearing impairment, Downslanted palpebral fissures, Frontal bossing, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Iris coloboma, Low anterior hairline, Malar flattening, Micrognathia, Microtia, Midface retrusion, Narrow internal auditory canal, Open bite, Reduced number of teeth, Retrognathia, Short face, Skeletal dysplasia, Strabismus, Visual impairment, Wide nasal bridge
EN-PFC2	SCARB2	0.394092022	0.000332795	Cell surface receptor	BrainSpLMD|950;Eurexp|euxassay_009131|embryo	OMIM|602257;HPO|950|Abdominal pain, Anemia, Anorexia, Aseptic necrosis, Autosomal recessive inheritance, Bone pain, Bruising susceptibility, Cerebellar atrophy, Delayed puberty, Delayed skeletal maturation, Dysarthria, Dysphagia, EEG with polyspike wave complexes, Focal segmental glomerulosclerosis, Gait ataxia, Generalized seizures, Gingival bleeding, Hepatomegaly, Hypersplenism, Increased bone mineral density, Intention tremor, Kyphosis, Limb ataxia, Morning myoclonic jerks, Myoclonus, Nephropathy, Nephrotic syndrome, Osteolysis, Osteopenia, Pancytopenia, Postural tremor, Proteinuria, Rapidly progressive, Renal insufficiency, Splenomegaly, Thrombocytopenia
EN-PFC2	IPO7	0.324255875	0.000339236	Transport/cargo protein	BrainSpLMD|10527	OMIM|605586
EN-PFC2	BTRC	0.642786424	0.000351902	Ubiquitin proteasome system protein	BrainSpLMD|8945;Eurexp|euxassay_018549|brain, dorsal root ganglion, glossopharyngeal IX, spinal cord, trigeminal V;BrainSpMouseDev|12019	OMIM|603482;HPO|8945|Finger syndactyly, Oligodactyly
EN-PFC2	PRMT1	0.481688365	0.000359319	Enzyme: Methyltransferase	BrainSpLMD|3276;Eurexp|euxassay_017432|cardiovascular system, chondrocranium, cortex, dorsal root ganglion, incisor, integumental system, left lung, lumen, pancreas, right lung, skin, submandibular gland primordium, thymus primordium, vertebral axis muscle system, vibrissa, visceral organ	OMIM|602950
EN-PFC2	PDXDC1	0.478935213	0.000364927	Enzyme: Decarboxylase		OMIM|614244
EN-PFC2	NOVA2	0.277437971	0.000372977	RNA binding protein	BrainSpLMD|4858;Eurexp|euxassay_013411|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lung, mantle layer, neural retina, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|601991
EN-PFC2	C4orf27	0.414964459	0.000383735			
EN-PFC2	NIPSNAP3A	0.643403182	0.000389284	Transport/cargo protein	BrainSpLMD|25934	OMIM|608871
EN-PFC2	TSEN2	0.907992333	0.00039994	Ribonuclease	BrainSpLMD|80746	OMIM|608753;HPO|80746|Autosomal recessive inheritance, Babinski sign, Cerebellar hypoplasia, Chorea, Clonus, Congenital onset, Dystonia, Extrapyramidal dyskinesia, Feeding difficulties, Generalized hypotonia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Limb hypertonia, Microcephaly, Muscular hypotonia of the trunk, Opisthotonus, Progressive microcephaly, Seizures, Sloping forehead
EN-PFC2	C11orf95	0.261812321	0.000403872			OMIM|615699
EN-PFC2	HNRNPAB	0.369971709	0.000404818	Ribonucleoprotein	BrainSpLMD|3182;BrainSpMouseDev|15159	OMIM|602688
EN-PFC2	RP5.882C2.2	0.702722021	0.000406632			
EN-PFC2	YARS	0.472914094	0.000417357	Enzyme: Ligase	BrainSpLMD|8565	OMIM|603623;HPO|8565|Abnormality of the foot, Autosomal dominant inheritance, Axonal regeneration, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Upper limb muscle weakness
EN-PFC2	DLGAP1.AS5	0.725261561	0.00041946			
EN-PFC2	ATXN7L1	0.459681723	0.000424713	Unclassified	BrainSpLMD|222255	
EN-PFC2	UBQLN4	0.516263874	0.000427402	Ubiquitin proteasome system protein	BrainSpLMD|56893	OMIM|605440
EN-PFC2	TADA1	0.250584457	0.000428439	DNA binding protein	BrainSpLMD|117143	OMIM|612763
EN-PFC2	SLC25A44	0.745657651	0.000435378	Transport/cargo protein	BrainSpLMD|9673	OMIM|610824
EN-PFC2	PDE6D	0.297716446	0.000440271	Regulatory/other subunit	BrainSpLMD|5147	OMIM|602676;HPO|5147|Abnormal facial shape, Autosomal recessive inheritance, Coloboma, Global developmental delay, Intrauterine growth retardation, Microphthalmia, Molar tooth sign on MRI, Postaxial hand polydactyly, Renal hypoplasia, Retinal dysplasia, Syndactyly, Undetectable electroretinogram
EN-PFC2	NKIRAS2	0.421074315	0.000440545	GTPase	BrainSpLMD|28511;Eurexp|euxassay_010431|dorsal root ganglion, olfactory, vomeronasal organ	OMIM|604497
EN-PFC2	ASNSD1	0.279320907	0.000449053	Unclassified	BrainSpLMD|54529;Eurexp|euxassay_004908|cavities and their linings, limb, organ system, tail, vertebral axis muscle system	
EN-PFC2	IDH3A	0.603711998	0.000462117	Enzyme: Dehydrogenase	BrainSpLMD|3419;Eurexp|euxassay_010648|glossopharyngeal IX, lobe, mandible, midgut, orbito-sphenoid, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, ventral grey horn, ventricle, vibrissa	OMIM|601149
EN-PFC2	SLC35F6	0.294341445	0.000475005	Unclassified	BrainSpLMD|54978	
EN-PFC2	SGK494	0.820794297	0.000478069			
EN-PFC2	LPHN1	0.680352971	0.00048043			
EN-PFC2	SNX18	0.649113912	0.000492137	Transport/cargo protein	BrainSpLMD|112574;Eurexp|euxassay_012165|bladder, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, metanephros, trigeminal V, vestibulocochlear VIII	
EN-PFC2	HMG20A	0.272171305	0.000515541	Transcription regulatory protein	BrainSpLMD|10363;Eurexp|euxassay_007766|axial skeleton, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, midgut, neural retina, spinal cord, stomach, testis, thoracic, thyroid, trigeminal V, vagus X, ventricle, vestibulocochlear VIII;BrainSpMouseDev|42710	OMIM|605534
EN-PFC2	KIAA2022	0.488172426	0.000517729			SFARI||Autism, 3 - Suggestive evidence
EN-PFC2	OLFM1	0.67329813	0.000521245	Unclassified	BrainSpLMD|10439;Eurexp|euxassay_003026|axial skeleton, cervical, cervico-thoracic, diaphragm, diencephalon, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, hindbrain, incisor, limb, mantle layer, marginal layer, midbrain, molar, neural retina, nucleus pulposus, olfactory, pectoral girdle and thoracic body wall, spinal cord, stroma, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|605366
EN-PFC2	TIMMDC1	0.66308773	0.000528438	Unclassified	BrainSpLMD|51300	OMIM|615534;HPO|51300|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
EN-PFC2	SETDB1	0.522619722	0.000540116	Transcription regulatory protein	BrainSpLMD|9869	SFARI||Autism, 4 - Minimal evidence;OMIM|604396
EN-PFC2	ANKH	0.521764243	0.0005463	Membrane transport protein	BrainSpLMD|56172	OMIM|605145;HPO|56172|Abnormality of pelvic girdle bone morphology, Abnormality of the intervertebral disk, Abnormality of the metaphysis, Abnormality of the nasopharynx, Abnormality of the vertebral column, Adult onset, Arthralgia, Arthritis, Arthropathy, Autosomal dominant inheritance, Bony paranasal bossing, Calcification of cartilage, Calvarial osteosclerosis, Club-shaped distal femur, Craniofacial hyperostosis, Depressed nasal bridge, Erlenmeyer flask deformity of the femurs, Facial palsy, Hypertelorism, Joint swelling, Macrocephaly, Mandibular prognathia, Metaphyseal widening, Misalignment of teeth, Mixed hearing impairment, Nasal obstruction, Osteoarthritis, Osteopetrosis, Polyarticular chondrocalcinosis, Sclerosis of skull base, Skeletal dysplasia, Telecanthus, Wide nasal bridge
EN-PFC2	SPATA7	0.54962003	0.000547731	Unclassified	BrainSpLMD|55812	OMIM|609868;HPO|55812|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Encephalocele, Glaucoma, Hemiplegia/hemiparesis, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Muscular hypotonia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Seizures, Sensorineural hearing impairment, Severe visual impairment, Wide nasal bridge
EN-PFC2	AADAT	0.620285872	0.000570081	Enzyme: Aminotransferase	BrainSpLMD|51166;Eurexp|euxassay_002742|calyces, lobe, pelvis	OMIM|611754
EN-PFC2	COX11	0.405714709	0.00057024	Chaperone	BrainSpLMD|1353	OMIM|603648
EN-PFC2	ZNF589	0.260996881	0.00057571	DNA binding protein	BrainSpLMD|51385	OMIM|616702
EN-PFC2	TMEM30A	0.563210952	0.000599967	Integral membrane protein	BrainSpLMD|55754	OMIM|611028
EN-PFC2	RFWD2	0.418403365	0.000606051	Ubiquitin proteasome system protein;Transcription regulatory protein	BrainSpLMD|64326	SFARI||Autism, 5 - Hypothesized but untested;OMIM|608067
EN-PFC2	EIF4E2	0.506786334	0.000606803	Translation regulatory protein	BrainSpLMD|9470	OMIM|605895
EN-PFC2	MGAT5	0.446314623	0.000622095	Enzyme: Glucosaminyltransferase	BrainSpLMD|4249	OMIM|601774
EN-PFC2	TTYH3	0.314924782	0.000649934	Ion channel	BrainSpLMD|80727	OMIM|608919
EN-PFC2	GCLM	0.605349701	0.000693917	Enzyme: Ligase	BrainSpLMD|2730;Eurexp|euxassay_018515|left, right	OMIM|601176
EN-PFC2	FER	0.298527439	0.00071275	Tyrosine kinase	BrainSpLMD|2241	SFARI||Autism, No category;OMIM|176942
EN-PFC2	DYM	0.49563318	0.000739149	Integral membrane protein	BrainSpLMD|54808	OMIM|607461;HPO|54808|Abnormality of epiphysis morphology, Abnormality of the ilium, Abnormality of the metaphysis, Abnormality of the wrist, Atlantoaxial instability, Autosomal recessive inheritance, Barrel-shaped chest, Beaking of vertebral bodies, Broad foot, Broad palm, Camptodactyly, Carpal bone hypoplasia, Coarse facial features, Cone-shaped epiphyses of the phalanges of the hand, Deformed sella turcica, Delayed femoral head ossification, Disproportionate short-trunk short stature, Dolichocephaly, Enlargement of the costochondral junction, Flat acetabular roof, Flat glenoid fossa, Genu valgum, Genu varum, Global developmental delay, Hip dislocation, Hyperlordosis, Hypoplasia of the odontoid process, Hypoplastic acetabulae, Hypoplastic facial bones, Hypoplastic iliac wing, Hypoplastic scapulae, Iliac crest serration, Intellectual disability, Irregular epiphyses, Joint stiffness, Kyphosis, Lumbar hyperlordosis, Mandibular prognathia, Metaphyseal irregularity, Microcephaly, Micromelia, Multicentric femoral head ossification, Multicentric ossification of proximal femoral epiphyses, Multicentric ossification of proximal humeral epiphyses, Narrow greater sacrosciatic notches, Neurological speech impairment, Pectus carinatum, Platyspondyly, Postnatal growth retardation, Prominent sternum, Rhizomelia, Scoliosis, Severe global developmental delay, Shield chest, Short metacarpal, Short metatarsal, Short neck, Short phalanx of finger, Short thorax, Skeletal dysplasia, Sloping forehead, Spinal canal stenosis, Thickened calvaria, Thoracic kyphosis, Waddling gait, Wide pubic symphysis
EN-PFC2	POM121	0.269459323	0.000747367	Integral membrane protein	BrainSpLMD|9883	OMIM|615753
EN-PFC2	ANKMY2	0.766106988	0.000752292	Unclassified	BrainSpLMD|57037;Eurexp|euxassay_006735|brain, dorsal root ganglion, spinal cord, trigeminal V	
EN-PFC2	ARF5	0.449304534	0.000759301	G protein	BrainSpLMD|381	OMIM|103188
EN-PFC2	RNF14	0.413415493	0.000797539	Transcription regulatory protein	BrainSpLMD|9604;Eurexp|euxassay_004677|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X;BrainSpMouseDev|36015	OMIM|605675
EN-PFC2	TMEM178B	0.424105101	0.000800058			
EN-PFC2	MPRIP	0.287380526	0.000811301	Cytoskeletal associated protein	BrainSpLMD|23164;Eurexp|euxassay_001470|brain, cervical, cervico-thoracic, dorsal root ganglion, spinal cord, thoracic	OMIM|612935
EN-PFC2	POLR2G	0.316970073	0.000823063	RNA polymerase	BrainSpLMD|5436	OMIM|602013
EN-PFC2	VIPAS39	0.252057313	0.000828844	Unclassified	BrainSpLMD|63894	OMIM|613401;HPO|63894|Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Cholestatic liver disease, Conjugated hyperbilirubinemia, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Giant cell hepatitis, Global developmental delay, Hip dysplasia, Ichthyosis, Jaundice, Low-set ears, Metabolic acidosis, Microcephaly, Nephrocalcinosis, Nephropathy, Renal tubular acidosis, Right ventricular hypertrophy, Sloping forehead, Talipes calcaneovalgus, Ventricular septal defect
EN-PFC2	PAPD5	0.256277961	0.000855731	Unclassified	BrainSpLMD|64282	OMIM|605540
EN-PFC2	SNRK	0.273761708	0.000865919	Serine/threonine kinase	BrainSpLMD|54861	OMIM|612760
EN-PFC2	PDP1	0.714930626	0.000875354	Serine/threonine phosphatase	BrainSpLMD|54704	OMIM|605993;HPO|54704|Autosomal recessive inheritance, Decreased activity of the pyruvate dehydrogenase complex, Dysphagia, Gait ataxia, Generalized hypotonia, Global developmental delay, Infantile onset, Intellectual disability, Lactic acidosis, Nystagmus, Seizures
EN-PFC2	TMEM167A	0.508235753	0.000890062	Integral membrane protein	BrainSpLMD|153339	
EN-PFC2	RPL26P30	0.374275672	0.00089399			
EN-PFC2	SAP130	1.166594258	0.000895184	Transcription regulatory protein	BrainSpLMD|79595	OMIM|609697
EN-PFC2	GAB2	1.186100055	0.000910341	Adapter molecule	BrainSpLMD|9846	OMIM|606203
EN-PFC2	BABAM1	0.565935306	0.000945349	Unclassified	BrainSpLMD|29086	OMIM|612766
EN-PFC2	COPS8P2	0.660713284	0.000950946			
EN-PFC2	ATPIF1	0.368258301	0.00095405			
EN-PFC2	ARF6	0.330130701	0.000956288	Transport/cargo protein	BrainSpLMD|382;BrainSpMouseDev|11632	OMIM|600464
EN-PFC2	SRP72	0.251390921	0.000962134	RNA binding protein	BrainSpLMD|6731	OMIM|602122;HPO|6731|Aplastic anemia, Autosomal dominant inheritance, Bone marrow hypocellularity, Hearing impairment, Myelodysplasia
EN-PFC2	IFIT5	0.309505217	0.000978453	Unclassified	BrainSpLMD|24138	OMIM|616135
EN-PFC2	RALA	0.665074444	0.001000755	GTPase	BrainSpLMD|5898;Eurexp|euxassay_012473|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, trigeminal V, vagus X	OMIM|179550
EN-PFC2	ZBTB41	0.395125955	0.001009659	DNA binding protein	BrainSpLMD|360023	
EN-PFC2	LAMTOR3	0.395860455	0.001025556	Adapter molecule	BrainSpLMD|8649	OMIM|603296
EN-PFC2	UBR4	0.319583509	0.001038475	Unclassified	BrainSpLMD|23352	OMIM|609890
EN-PFC2	GNPTAB	0.257712058	0.001043344	Calcium binding protein	BrainSpLMD|79158	OMIM|607840;HPO|79158|Abnormality of nervous system morphology, Abnormality of the rib cage, Abnormality of the thorax, Anteverted nares, Aortic regurgitation, Atlantoaxial dislocation, Autosomal recessive inheritance, Beaking of vertebral bodies T12-L3, Broad ribs, Bullet-shaped phalanges of the hand, Cardiomegaly, Carpal bone hypoplasia, Cavernous hemangioma, Coarse facial features, Congestive heart failure, Constrictive median neuropathy, Corneal erosion, Craniosynostosis, Death in childhood, Deficiency of N-acetylglucosamine-1-phosphotransferase, Depressed nasal bridge, Diastasis recti, Dysostosis multiplex, Epicanthus, Failure to thrive, Flared iliac wings, Flat acetabular roof, Generalized hirsutism, Heart murmur, Hepatomegaly, Hernia, High forehead, Hip dislocation, Hoarse voice, Hyperopic astigmatism, Hypertrophic cardiomyopathy, Hypoplasia of the odontoid process, Hypoplastic scapulae, Increased serum beta-hexosaminidase, Increased serum iduronate sulfatase activity, Inguinal hernia, Intellectual disability, Irregular carpal bones, J-shaped sella turcica, Lack of skin elasticity, Large sella turcica, Long philtrum, Lower thoracic interpediculate narrowness, Macroglossia, Mandibular prognathia, Megalocornea, Metaphyseal widening, Mucopolysacchariduria, Myelopathy, Narrow forehead, Neonatal hypotonia, Opacification of the corneal stroma, Osteopenia, Ovoid vertebral bodies, Palpebral edema, Pathologic fracture, Progressive alveolar ridge hypertropy, Protuberant abdomen, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia, Retinal degeneration, Scoliosis, Severe global developmental delay, Severe postnatal growth retardation, Shallow acetabular fossae, Short long bone, Short ribs, Short stature, Soft tissue swelling of interphalangeal joints, Sparse and thin eyebrow, Specific learning disability, Splenomegaly, Split hand, Talipes equinovarus, Thickened calvaria, Thickened skin, Thin skin, Thoracolumbar kyphoscoliosis, Umbilical hernia, Varus deformity of humeral neck, Wide intermamillary distance
EN-PFC2	PRNP	0.778220463	0.001052215	Membrane bound ligand	BrainSpLMD|5621;Eurexp|euxassay_007857|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, mantle layer, metanephros, neural retina, olfactory, thoracic, tongue, trachea, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ;BrainSpMouseDev|18885	OMIM|176640;HPO|5621|Abdominal symptom, Adult onset, Aggressive behavior, Akinetic mutism, Anxiety, Apathy, Aphasia, Apnea, Apraxia, Areflexia, Astrocytosis, Ataxia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Babinski sign, Basal ganglia gliosis, Bradykinesia, Central nervous system degeneration, Cerebellar atrophy, Childhood onset, Chorea, Clumsiness, Confusion, Constipation, Deficit in phonologic short-term memory, Delusions, Dementia, Depressivity, Diffuse spongiform leukoencephalopathy, Diplopia, Dysarthria, Dysautonomia, Dysmetria, Dysphagia, EEG with persistent abnormal rhythmic activity, Emotional lability, Encephalopathy, Extrapyramidal muscular rigidity, Fever, Focal T2 hyperintense basal ganglia lesion, Gait ataxia, Gliosis, Global brain atrophy, Hallucinations, Hemiparesis, Hyperhidrosis, Hyperreflexia, Hypersomnia, Impaired smooth pursuit, Incoordination, Insomnia, Irritability, Jaw pain, Limb ataxia, Loss of facial expression, Lower limb muscle weakness, Memory impairment, Muscle weakness, Myoclonus, Neurofibrillary tangles, Neuronal loss in central nervous system, Parkinsonism, Perseveration, Personality changes, Phenotypic variability, Poor visual behavior for age, Progressive cerebellar ataxia, Progressive extrapyramidal muscular rigidity, Progressive forgetfulness, Psychosis, Rapidly progressive, Restlessness, Rigidity, Seizures, Senile plaques, Short attention span, Sleep disturbance, Slurred speech, Spastic dysarthria, Spastic hemiparesis, Spasticity, Specific learning disability, Stroke-like episode, Supranuclear gaze palsy, Tremor, Truncal ataxia, Unsteady gait, Urinary retention, Visual impairment, Weight loss
EN-PFC2	NTRK2	0.451953257	0.001055033	Receptor tyrosine kinase	BrainSpLMD|4915;BrainSpMouseDev|17979	OMIM|600456;HPO|4915|Autosomal dominant inheritance, Facial asymmetry, Obesity, Polyphagia, Severe global developmental delay, Stereotypy
EN-PFC2	HDHD2	0.395421389	0.001072497	Enzyme: Hydrolase	BrainSpLMD|84064	
EN-PFC2	HEATR5B	0.449027948	0.001078512	Unclassified		
EN-PFC2	FASTKD1	0.354980992	0.00108902	Unclassified	BrainSpLMD|79675	OMIM|617529
EN-PFC2	CELF5	0.634607853	0.001127596	RNA binding protein	BrainSpLMD|60680	OMIM|612680
EN-PFC2	TRAPPC12	0.311580011	0.001155004	Unclassified	BrainSpLMD|51112	OMIM|614139
EN-PFC2	HMOX2	0.3524167	0.001214453	Enzyme: Oxygenase	BrainSpLMD|3163;Eurexp|euxassay_003408|dorsal root ganglion, glossopharyngeal IX, incisor, lung, molar, olfactory, orbito-sphenoid, respiratory, submandibular gland primordium, thymus primordium, trigeminal V	OMIM|141251
EN-PFC2	CAMSAP1	0.265918702	0.001221175	Unclassified	BrainSpLMD|157922	OMIM|613774
EN-PFC2	RP11.658F2.8	0.295896709	0.001331498			
EN-PFC2	VAT1	0.354560043	0.001343933	Transport/cargo protein	BrainSpLMD|10493;BrainSpMouseDev|26694	OMIM|604631
EN-PFC2	SLC4A1AP	0.252008746	0.001367639	Adapter molecule	BrainSpLMD|22950	OMIM|602655
EN-PFC2	ZNF420	0.261872	0.001401865	Transcription factor	BrainSpLMD|147923	OMIM|617216
EN-PFC2	FAHD2A	0.490511989	0.001411164	Unclassified	BrainSpLMD|51011	
EN-PFC2	ATP1A1	0.353052696	0.001445995	ATPase	BrainSpLMD|476;BrainSpMouseDev|11714	OMIM|182310;COSMIC||adrenal aldosterone producing adenoma
EN-PFC2	AGO4	0.268201179	0.001466508	Translation regulatory protein	BrainSpLMD|192670	OMIM|607356
EN-PFC2	MPZL1	0.718462177	0.00148845	Unclassified	BrainSpLMD|9019	OMIM|604376
EN-PFC2	RNF170	0.748237713	0.001491802	Unclassified	BrainSpLMD|81790	OMIM|614649;HPO|81790|Adult onset, Areflexia, Autosomal dominant inheritance, Babinski sign, Distal sensory impairment of all modalities, Gait instability, worse in the dark, Hyporeflexia, Positive Romberg sign, Sensory ataxia
EN-PFC2	MCUR1	0.529114223	0.001492703	Unclassified	BrainSpLMD|63933	OMIM|616952
EN-PFC2	GRK4	0.273853984	0.001512986	Serine/threonine kinase	BrainSpLMD|2868;BrainSpMouseDev|14548	OMIM|137026
EN-PFC2	MAP4K3	0.605168062	0.001519123	Serine/threonine kinase	BrainSpLMD|8491	OMIM|604921
EN-PFC2	CEP78	0.261160408	0.001540225	Unclassified		OMIM|617110;HPO|84131|Abnormal electroretinogram, Abnormality of cochlea, Astigmatism, Ataxia, Autosomal recessive inheritance, Cataract, Hemianopia, High-grade hypermetropia, Iris hypopigmentation, Macular degeneration, Nyctalopia, Nystagmus, Photophobia, Scotoma, Sensorineural hearing impairment, Vestibular hypofunction, Visual loss
EN-PFC2	PNMA1	0.5147734	0.001549933	Unclassified	BrainSpLMD|9240	OMIM|604010
EN-PFC2	VTI1B	0.291858459	0.001597481	Unclassified	BrainSpLMD|10490;Eurexp|euxassay_009816|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	OMIM|603207
EN-PFC2	MAP1A	0.322786734	0.001600737	Cytoskeletal associated protein	BrainSpLMD|4130	OMIM|600178
EN-PFC2	ZDHHC2	0.345130983	0.001619006	Integral membrane protein	BrainSpLMD|51201;Eurexp|euxassay_000126|abducent VI, accessory XI, autonomic, basal plate, cervico-thoracic, corpus striatum, cranial, diencephalon, dorsal root ganglion, facial VII, gland, glossopharyngeal IX, hypoglossal XII, hypothalamus, inferior, lamina terminalis, lateral wall, mandibular division, mantle layer, maxillary division, nerve plexus, oculomotor III, olfactory I, olfactory cortex, olfactory lobe, ophthalmic division, optic II, parasympathetic, spinal cord, sulcus limitans, sympathetic, tegmentum, thalamus, thoracic, trigeminal V, trochlear IV, vagus X, vestibulocochlear VIII;BrainSpMouseDev|46387	
EN-PFC2	ASRGL1	0.408312304	0.001672658	Unclassified	BrainSpLMD|80150;Eurexp|euxassay_000035|central nervous system, corpus striatum, ventricular layer	OMIM|609212
EN-PFC2	LARP1B	0.378133026	0.001684313	RNA binding protein	BrainSpLMD|55132	
EN-PFC2	SLC38A9	0.481606072	0.00168847	Unclassified	BrainSpLMD|153129	OMIM|616203
EN-PFC2	NAA25	0.685503537	0.001738057	Unclassified	BrainSpLMD|80018	OMIM|612755
EN-PFC2	PHAX	0.267287722	0.001782953	RNA binding protein	BrainSpLMD|51808	OMIM|604924
EN-PFC2	LGALS8	0.548926062	0.001958944	Extracellular matrix protein	BrainSpLMD|3964	OMIM|606099
EN-PFC2	NNT	0.328821052	0.002017246	Enzyme: Oxidoreductase	BrainSpLMD|23530;Eurexp|euxassay_007280|diaphragm, left lung, oesophagus, right lung, skeletal muscle, vertebral axis muscle system	OMIM|607878;HPO|23530|Autosomal recessive inheritance, Failure to thrive, Hypoglycemia
EN-PFC2	ZNF506	0.416604026	0.00204648	Transcription factor	BrainSpLMD|440515	
EN-PFC2	NBN	0.480186224	0.002060792	DNA repair protein	BrainSpLMD|4683	OMIM|602667;COSMIC||NHL, glioma, medulloblastoma, rhabdomyosarcoma;HPO|4683|Abnormal hair quantity, Abnormality of chromosome stability, Abnormality of the fallopian tube, Acute lymphoblastic leukemia, Anal atresia, Anal stenosis, Aplastic anemia, Attention deficit hyperactivity disorder, Autoimmune hemolytic anemia, Autosomal recessive inheritance, B lymphocytopenia, Bone marrow hypocellularity, Breast carcinoma, Bronchiectasis, Cachexia, Cafe-au-lait spot, Choanal atresia, Chronic diarrhea, Cleft palate, Cleft upper lip, Convex nasal ridge, Decrease in T cell count, Deep philtrum, Depressed nasal bridge, Diarrhea, Dysgammaglobulinemia, Glioma, Hearing abnormality, Hydronephrosis, Hyperactivity, Intellectual disability, Intrauterine growth retardation, Long nose, Low anterior hairline, Lymphoma, Macrotia, Malar prominence, Mastoiditis, Medulloblastoma, Mental deterioration, Microcephaly, Micrognathia, Neurodegeneration, Otitis media, Ovarian neoplasm, Pollakisuria, Polygenic inheritance, Premature ovarian insufficiency, Primary peritoneal carcinoma, Progressive vitiligo, Prominent nasal bridge, Prominent nose, Recurrent bronchitis, Recurrent infection of the gastrointestinal tract, Recurrent pneumonia, Recurrent sinopulmonary infections, Recurrent urinary tract infections, Retrognathia, Rhabdomyosarcoma, Short neck, Short stature, Sinusitis, Sloping forehead, Thrombocytopenia, Upslanted palpebral fissure
EN-PFC2	WARS	0.465821639	0.002070232	Enzyme: Ligase	BrainSpLMD|7453	OMIM|191050
EN-PFC2	APBA1	0.369256402	0.00208386	Adapter molecule	BrainSpLMD|320;Eurexp|euxassay_007658|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn;BrainSpMouseDev|106859	OMIM|602414
EN-PFC2	RNF220	0.916038616	0.002096922	Unclassified	BrainSpLMD|55182;Eurexp|euxassay_007486|mantle layer, marginal layer	OMIM|616136
EN-PFC2	OSBPL6	0.329827128	0.002129228	Transport/cargo protein	BrainSpLMD|114880;Eurexp|euxassay_000065|adrenal gland, cerebral cortex, dorsal root ganglion, epithelium, excretory component, facial VII, glossopharyngeal IX, hypothalamus, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lateral wall, nasal cavity, neural retina, oesophagus, olfactory lobe, pituitary, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|606734
EN-PFC2	PPP3R1	0.953553266	0.002204425	Regulatory/other subunit		OMIM|601302
EN-PFC2	DOPEY1	0.431720155	0.002224735	Unclassified	BrainSpLMD|23033	OMIM|616823
EN-PFC2	NAMPT	0.372937412	0.002227985	Cytokine	BrainSpLMD|10135;Eurexp|euxassay_004817|axial muscle	OMIM|608764
EN-PFC2	C16orf70	0.374105966	0.002238219	Unclassified	BrainSpLMD|80262	
EN-PFC2	DGKD	1.058190506	0.002316513	Enzyme: Phosphotransferase	BrainSpLMD|8527	OMIM|601826
EN-PFC2	NSA2	0.277155793	0.002383946	Unclassified		OMIM|612497
EN-PFC2	LETMD1	0.281399011	0.002399968	Transcription regulatory protein	BrainSpLMD|25875;Eurexp|euxassay_003021|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|44456	
EN-PFC2	SLC9B2	0.320397225	0.002410405	Unclassified	BrainSpLMD|133308;Eurexp|euxassay_006992|femur, incisor, lip, mandible, maxilla, stomach	OMIM|611789
EN-PFC2	UBE2J1	0.685803206	0.00241352	Ubiquitin proteasome system protein	BrainSpLMD|51465;Eurexp|euxassay_012405|clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mandible, mantle layer, neural retina, olfactory, orbito-sphenoid, trigeminal V, vagus X	OMIM|616175
EN-PFC2	LRRC37A17P	0.583718962	0.002423605			
EN-PFC2	ECD	0.310265669	0.002446458	Transcription regulatory protein	BrainSpLMD|11319	OMIM|616464
EN-PFC2	SEPT7P9	0.592229583	0.00248787			
EN-PFC2	PPM1L	0.417591878	0.002545385	Serine/threonine phosphatase	BrainSpLMD|151742;Eurexp|euxassay_008476|anterior, brain, cervical, cervico-thoracic, cornea, diaphragm, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, left lung, liver, midgut, neural retina, oesophagus, olfactory, paraxial mesenchyme, rest of mesenchyme, right lung, skeletal muscle, spinal cord, stomach, thoracic, thymus primordium, trachea, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|611931
EN-PFC2	FAM115A	0.300356947	0.002549344			
EN-PFC2	GATS	0.44381753	0.002567134	Unclassified	BrainSpLMD|352954	
EN-PFC2	TDP1	0.538092089	0.002622265	Enzyme: Phosphodiesterase	BrainSpLMD|55775	OMIM|607198;HPO|55775|Ataxia, Autosomal recessive inheritance, Distal amyotrophy, Peripheral axonal neuropathy, Pes cavus, Steppage gait
EN-PFC2	ATG5	0.405823017	0.002752716	Cytoskeletal protein	BrainSpLMD|9474	OMIM|604261
EN-PFC2	SLC5A3	0.321195221	0.002769564	Transport/cargo protein	BrainSpLMD|6526;Eurexp|euxassay_019742|axial muscle, cervical region, choroid plexus, extrinsic ocular muscle, nasal septum, pelvic girdle, rectum, turbinate bones, ventricular layer	OMIM|600444
EN-PFC2	NSUN3	0.339583783	0.002780425	Unclassified	BrainSpLMD|63899	OMIM|617491
EN-PFC2	AGL	0.497441443	0.002785106	Enzyme: Glucosidase	BrainSpLMD|178;Eurexp|euxassay_013482|dorsal root ganglion, facial VII, glossopharyngeal IX, skeletal muscle, trigeminal V, ventral grey horn, vertebral axis muscle system	OMIM|610860;HPO|178|Autosomal recessive inheritance, Broad nasal tip, Cardiomyopathy, Deeply set eye, Depressed nasal bridge, Distal amyotrophy, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Full cheeks, Hepatic fibrosis, Hepatomegaly, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Immunodeficiency, Intellectual disability, mild, Malar flattening, Midface retrusion, Muscle weakness, Myopathy, Short stature, Thin upper lip vermilion, Ventricular hypertrophy
EN-PFC2	BCAP29	0.741188166	0.002805171	Integral membrane protein	BrainSpLMD|55973;Eurexp|euxassay_000840|dorsal root ganglion, lobe, submandibular gland primordium, thymus primordium, vagus X, ventricular layer, vibrissa	
EN-PFC2	NPIPB11	0.55822543	0.002819536			
EN-PFC2	ADRBK2	0.37853943	0.002828265			
EN-PFC2	DEDD	0.414894502	0.002828296	DNA binding protein	BrainSpLMD|9191	OMIM|606841
EN-PFC2	NOLC1	0.314788649	0.002847865	Transcription factor	BrainSpLMD|9221	OMIM|602394
EN-PFC2	APMAP	0.315082977	0.002868797	Unclassified	BrainSpLMD|57136;Eurexp|euxassay_005406|olfactory	OMIM|615884
EN-PFC2	PARP8	0.69551605	0.002975087	Unclassified	BrainSpLMD|79668;Eurexp|euxassay_003449|adenohypophysis, bladder, central nervous system, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, heart, hindlimb, incisor, intervertebral disc, limb, liver, lung, metanephros, midgut, molar, neural retina, oesophagus, olfactory, penis, respiratory, stomach, stroma, thymus primordium, tongue, trachea, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, visceral organ	
EN-PFC2	ATP6V0A1	0.639150739	0.003052774	Ion channel	BrainSpLMD|535	OMIM|192130
EN-PFC2	UBL7	0.708216396	0.003102619	Ubiquitin proteasome system protein	BrainSpLMD|84993	SFARI||Autism, 6 - Evidence does not support role;OMIM|609748
EN-PFC2	COPS5	0.614652286	0.003109749	Ubiquitin proteasome system protein	BrainSpLMD|10987;Eurexp|euxassay_012062|dorsal root ganglion, exoccipital bone, facial VII, glossopharyngeal IX, mantle layer, orbito-sphenoid, temporal bone, trigeminal V, turbinate, vagus X, ventral grey horn;BrainSpMouseDev|26501	OMIM|604850
EN-PFC2	SBDSP1	0.50272829	0.003125099			
EN-PFC2	DNAJB5	0.303223025	0.003153733	Heat shock protein	BrainSpLMD|25822;Eurexp|euxassay_014885|accessory XI, alar plate, basal plate, brachial plexus, brain, central nervous system, cerebellum, cerebral cortex, cervico-thoracic, cranial, diencephalon, dorsal root ganglion, facial VII, forebrain, ganglion, glossopharyngeal IX, heart, hindbrain, hypogastric plexus, hypoglossal XII, hypothalamus, inferior, intrinsic, lateral wall, lumbo-sacral plexus, lung, marginal layer, maxillary division, metanephros, midbrain, nerve, nerve plexus, nerve trunk, neural retina, olfactory, parasympathetic, pectoral girdle and thoracic body wall, pelvic girdle, rest of alar plate, retina, skeletal muscle, spinal cord, telencephalon, thalamus, tongue, trigeminal V, vagal X nerve trunk, vagus X, vestibulocochlear VIII, vibrissa	OMIM|611328
EN-PFC2	IARS2	0.585738181	0.003178041	-	BrainSpLMD|55699;Eurexp|euxassay_005121|embryo	OMIM|612801;HPO|55699|Achalasia, Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Cataract, Cervical spinal canal stenosis, Congenital cataract, Congenital hip dislocation, Depressed nasal bridge, Distal sensory impairment, Fasting hypoglycemia, Flexion contracture, Genu valgum, Growth hormone deficiency, Hip dislocation, Hyporeflexia, Long philtrum, Motor delay, Narrow mouth, Nystagmus, Osteopenia, Periarticular subcutaneous nodules, Peripheral neuropathy, Prelingual sensorineural hearing impairment, Progressive sensorineural hearing impairment, Prominent forehead, Scoliosis, Sensorimotor neuropathy, Sensorineural hearing impairment, Sensory neuropathy, Short stature, Spinal canal stenosis, Spondyloepiphyseal dysplasia, Thick eyebrow, Thoracic kyphoscoliosis
EN-PFC2	PTPN11	0.387583241	0.003241573	Tyrosine phosphatase	BrainSpLMD|5781	SFARI||Autism, 4 - Minimal evidence;OMIM|176876;COSMIC||JMML, AML, MDS, Noonan Syndrome;HPO|5781|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal joint morphology, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of the pulmonary artery, Abnormality of the spleen, Amegakaryocytic thrombocytopenia, Aplasia of the ovary, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Atrioventricular canal defect, Autosomal dominant inheritance, Bowing of the long bones, Brachydactyly, Bundle branch block, Cafe-au-lait spot, Cleft palate, Clinodactyly, Coarctation of aorta, Coarse hair, Cryptorchidism, Cubitus valgus, Cystic hygroma, Decreased fertility, Delayed menarche, Delayed puberty, Delayed skeletal maturation, Dental malocclusion, Depressed nasal ridge, Downslanted palpebral fissures, Dysarthria, Enlarged thorax, Epicanthus, Failure to thrive in infancy, Feeding difficulties in infancy, Freckling, Hepatomegaly, Heterogeneous, High forehead, High palate, High, narrow palate, Hyperextensible skin, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadotrophic hypogonadism, Hypoplasia of the ovary, Hyposmia, Hypospadias, Intellectual disability, mild, Intrauterine growth retardation, Joint hyperflexibility, Juvenile myelomonocytic leukemia, Kyphoscoliosis, Limited elbow movement, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Lymphedema, Male infertility, Mandibular prognathia, Melanocytic nevus, Micrognathia, Micropenis, Midface retrusion, Missing ribs, Mitral valve prolapse, Multiple digital exostoses, Multiple enchondromatosis, Multiple lentigines, Muscle weakness, Muscular hypotonia, Myopia, Neurofibrosarcoma, Parietal bossing, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pectus excavatum of inferior sternum, Posteriorly rotated ears, Postnatal growth retardation, Proptosis, Protruding ear, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Radial deviation of finger, Reduced factor XII activity, Reduced factor XIII activity, Scapular winging, Scoliosis, Sensorineural hearing impairment, Severe sensorineural hearing impairment, Shield chest, Short neck, Short stature, Somatic mutation, Spina bifida occulta, Sprengel anomaly, Strabismus, Subvalvular aortic stenosis, Superior pectus carinatum, Synovitis, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Third degree atrioventricular block, Triangular face, Unilateral renal agenesis, Ventricular septal defect, Webbed neck, Wide intermamillary distance, Wide nasal bridge
EN-PFC2	NAMPTL	0.637129622	0.003255473			
EN-PFC2	CPEB3	0.800807322	0.003393128	Unclassified	BrainSpLMD|22849	OMIM|610606
EN-PFC2	DNASE1	0.304589332	0.003464364	Deoxyribonuclease	BrainSpLMD|1773	OMIM|125505
EN-PFC2	MED4	0.632987315	0.003581084	Translation regulatory protein	BrainSpLMD|29079	OMIM|605718
EN-PFC2	VPS37A	0.521701729	0.003605287	Growth inhibitory factor	BrainSpLMD|137492	OMIM|609927;HPO|137492|Autosomal recessive inheritance, Clonus, Cognitive impairment, Delayed speech and language development, Gait disturbance, Global developmental delay, Hypertrichosis, Kyphosis, Spastic paraplegia
EN-PFC2	METTL2B	0.428568941	0.003635491	Enzyme: Methyltransferase	BrainSpLMD|55798	OMIM|607846
EN-PFC2	MTFMT	0.259652322	0.003727165	Enzyme: Transferase	BrainSpLMD|123263	OMIM|611766;HPO|123263|Abnormality of the cerebral white matter, Autosomal recessive inheritance, Cognitive impairment, Delayed speech and language development, Global developmental delay, Incoordination, Increased CSF lactate, Phenotypic variability, Unsteady gait
EN-PFC2	UBA6.AS1	0.366834308	0.003784158			
EN-PFC2	DBNL	0.289943337	0.003794135	Adapter molecule	BrainSpLMD|28988	OMIM|610106
EN-PFC2	MRPS35	0.672698755	0.003812226	Ribosomal subunit	BrainSpLMD|60488	OMIM|611995
EN-PFC2	ZNF721	0.566913568	0.00381847	DNA binding protein	BrainSpLMD|170960	
EN-PFC2	PIK3R1	0.467026323	0.003870091	Adapter molecule	BrainSpLMD|5295;Eurexp|euxassay_003253|incisor, lobe, ventricular layer, vibrissa;BrainSpMouseDev|18473	OMIM|171833;COSMIC||glioblastoma, ovarian, colorectal;HPO|5295|Abnormality of dental enamel, Abnormality of the immune system, Abnormality of the pupil, Agammaglobulinemia, Alopecia, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Birth length less than 3rd percentile, Cataract, Chronic otitis media, Clinodactyly, Conjunctivitis, Cough, Decreased antibody level in blood, Deeply set eye, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Dental malocclusion, Diabetes mellitus, Diarrhea, Dimple chin, Downturned corners of mouth, Enlarged epiphyses, Excessive wrinkled skin, Failure to thrive, Fatigue, Fever, Frontal bossing, Glaucoma, Glucose intolerance, Hyperglycemia, Hypodontia, Hypoplasia of the iris, Hypotrichosis, Immunodeficiency, Infantile onset, Inguinal hernia, Insulin resistance, Insulin-resistant diabetes mellitus, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Lipoatrophy, Lipodystrophy, Macrotia, Megalocornea, Microdontia, Micrognathia, Midface retrusion, Myopia, Neurological speech impairment, Neutropenia, Osteomyelitis, Poor appetite, Premature skin wrinkling, Prominent forehead, Radial deviation of finger, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent skin infections, Rieger anomaly, Sensorineural hearing impairment, Severe short stature, Sinusitis, Skin rash, Small for gestational age, Telecanthus, Thin skin, Triangular face, Underdeveloped nasal alae, Weight loss, Wide nasal bridge
EN-PFC2	IAH1	0.320901013	0.003986462	Enzyme: Esterase	Eurexp|euxassay_005176|brain, glossopharyngeal IX, metanephros, pancreas, spinal cord, testis, thymus primordium, thyroid, trigeminal V, vestibulocochlear VIII	
EN-PFC2	DERL1	0.25678745	0.004215887	Transport/cargo protein	BrainSpLMD|79139	OMIM|608813
EN-PFC2	TRAFD1	0.265586507	0.004220953	DNA binding protein	BrainSpLMD|10906	OMIM|613197
EN-PFC2	RALGAPA1	0.420037123	0.004451425	GTPase activating protein	BrainSpLMD|253959	OMIM|608884
EN-PFC2	BICD2	0.508181227	0.004483404	Structural protein	BrainSpLMD|23299;Eurexp|euxassay_012575|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|609797;HPO|23299|Achilles tendon contracture, Areflexia, Autosomal dominant inheritance, Axial muscle weakness, Difficulty running, Gowers sign, Hyporeflexia, Motor delay, Spinal muscular atrophy, Talipes equinovarus, Toe walking, Variable expressivity, Waddling gait
EN-PFC2	DFNA5	0.338692799	0.004496184			
EN-PFC2	RSRP1	0.372109904	0.004540678	Unclassified	BrainSpLMD|57035	
EN-PFC2	FEZ2	0.339911912	0.004561569	Unclassified	BrainSpLMD|9637	OMIM|604826
EN-PFC2	MAGI3	0.314165216	0.004613122	Unclassified	BrainSpLMD|260425;Eurexp|euxassay_011395|axial skeleton, facial VII, femur, fibula, glossopharyngeal IX, left lung, olfactory, rib, right lung, tibia, trigeminal V, vagus X, vomeronasal organ	OMIM|615943
EN-PFC2	PRDM8	0.29665983	0.004654861	Unclassified	BrainSpLMD|56978;Eurexp|euxassay_003278|diencephalon, dorsal root ganglion, hindbrain, midbrain, spinal cord, telencephalon, trigeminal V	OMIM|616639;HPO|56978|Autosomal recessive inheritance, Dementia, Dysarthria, Generalized myoclonic seizures, Hallucinations, Hyperreflexia, Lafora bodies, Mutism, Myoclonus, Paranoia, Progressive, Progressive cerebellar ataxia, Psychosis, Spastic ataxia, Spastic tetraplegia, Urinary incontinence, Variable expressivity
EN-PFC2	DCBLD2	0.313773898	0.004750223	Adhesion molecule	BrainSpLMD|131566	OMIM|608698
EN-PFC2	BACE1	0.519425379	0.004851791	Aspartic protease	BrainSpLMD|23621	OMIM|604252
EN-PFC2	BTBD1	0.508831041	0.005008696	Unclassified	BrainSpLMD|53339	OMIM|608530
EN-PFC2	NME7	0.356971644	0.005245364	Enzyme: Phosphotransferase	BrainSpLMD|29922;Eurexp|euxassay_003414|4th ventricle, incisor, lung, metanephros, molar, olfactory, oral cavity, oral epithelium, oral region, pancreas, pharyngo-tympanic tube, respiratory, submandibular gland primordium, tongue, ventricular layer, vibrissa	OMIM|613465
EN-PFC2	RALGAPA1P	0.67618618	0.005323701			
EN-PFC2	FBXO22	0.496067264	0.005440618	Ubiquitin proteasome system protein	BrainSpLMD|26263	OMIM|609096
EN-PFC2	SEC22A	0.459990432	0.00548724	Transport/cargo protein	BrainSpLMD|26984	OMIM|612442
EN-PFC2	DIEXF	0.527057086	0.005531342	Unclassified	BrainSpLMD|27042;Eurexp|euxassay_003243|incisor, molar, submandibular gland primordium, vibrissa	
EN-PFC2	EPHB1	0.372609594	0.00553786	Receptor tyrosine kinase	BrainSpLMD|2047;Eurexp|euxassay_018955|floorplate, mantle layer, marginal layer, mesenchyme, neural retina, ventricular layer;BrainSpMouseDev|92948	OMIM|600600
EN-PFC2	PRRG3	0.353409218	0.005559864	Integral membrane protein	BrainSpLMD|79057	OMIM|300685
EN-PFC2	ADAM22	0.621813208	0.00557023	Metallo protease	BrainSpLMD|53616	OMIM|603709
EN-PFC2	WDR43	0.453657908	0.005570891	Unclassified	Eurexp|euxassay_006414|axial muscle, clavicle, cortex, incisor, midgut, molar, submandibular gland primordium, thymus primordium, vibrissa	OMIM|616195
EN-PFC2	ODC1	0.459745393	0.005709795	Enzyme: Decarboxylase	BrainSpLMD|4953	OMIM|165640
EN-PFC2	SH3BGRL2	0.731345317	0.005731724	Unclassified	BrainSpLMD|83699;BrainSpMouseDev|84435	OMIM|615678
EN-PFC2	CEP104	0.687568004	0.005741895	Unclassified	BrainSpLMD|9731	OMIM|616690;HPO|9731|Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Episodic tachypnea, Feeding difficulties in infancy, Gait disturbance, Global developmental delay, Infantile onset, Intellectual disability, Long face, Muscular hypotonia, Nystagmus, Oculomotor apraxia
EN-PFC2	REEP5	0.480876577	0.005743541	Integral membrane protein	BrainSpLMD|7905;Eurexp|euxassay_004460|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|125265
EN-PFC2	ATP6V1B2	0.349777137	0.005774901	Transport/cargo protein	BrainSpLMD|526;Eurexp|euxassay_009121|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, naris, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606939;HPO|526|Anonychia, Autosomal dominant inheritance, Bifid nasal tip, Brachydactyly, Congenital onset, Deep philtrum, Gingival overgrowth, Hidrotic ectodermal dysplasia, Macroglossia, Nail dystrophy, Phenotypic variability, Prominent nasal septum, Sensorineural hearing impairment, Short neck, Short stature, Small nail, Synophrys, Thick eyebrow, Thick vermilion border, Toe syndactyly, Underdeveloped nasal alae, Wide nasal bridge
EN-PFC2	PPM1G	0.523782879	0.005831753	Serine/threonine phosphatase	BrainSpLMD|5496	OMIM|605119
EN-PFC2	SETD4	0.404168224	0.006429708	Unclassified	BrainSpLMD|54093	
EN-PFC2	MICU3	0.872511695	0.006542565	Unclassified	BrainSpLMD|286097	OMIM|610633
EN-PFC2	ZNF546	0.489156559	0.006596195	DNA binding protein	BrainSpLMD|339327	
EN-PFC2	ZKSCAN8	1.128750728	0.006665351	Transcription factor	BrainSpLMD|7745;BrainSpMouseDev|60333	OMIM|602240
EN-PFC2	CREBZF	0.264135929	0.006781603	Transcription factor	BrainSpLMD|58487;Eurexp|euxassay_019497|dorsal root ganglion, facial VII, glossopharyngeal IX, mesenchyme, neural retina, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|87640	OMIM|606444
EN-PFC2	PEX1	0.552390712	0.006801983	ATPase	BrainSpLMD|5189	OMIM|602136;HPO|5189|Abnormal electroretinogram, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the helix, Abnormality of the liver, Abnormality of the palate, Adrenal hypoplasia, Albuminuria, Amelogenesis imperfecta, Aminoaciduria, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Areflexia, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Bell-shaped thorax, Bilateral single transverse palmar creases, Brachyturricephaly, Breech presentation, Brushfield spots, Cataract, Chorioretinal abnormality, Cirrhosis, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Convex nasal ridge, Corneal opacity, Cryptorchidism, Cubitus valgus, Death in infancy, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Developmental regression, Dolichocephaly, EEG abnormality, Elevated levels of phytanic acid, Elevated long chain fatty acids, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Glaucoma, Global developmental delay, Hepatic failure, Hepatic fibrosis, Hepatomegaly, Heterogeneous, Heterotopia, High forehead, High palate, High, narrow palate, Hydronephrosis, Hyperoxaluria, Hyperreflexia, Hypertelorism, Hypoplasia of dental enamel, Hypoplastic olfactory lobes, Hyporeflexia, Hypospadias, Intellectual disability, progressive, Intellectual disability, severe, Intrahepatic biliary dysgenesis, Jaundice, Leukodystrophy, Leukonychia, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Malabsorption, Malar flattening, Metatarsus adductus, Microcephaly, Micrognathia, Midface retrusion, Multicystic kidney dysplasia, Muscular hypotonia, Neonatal hypotonia, Nyctalopia, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Optic disc pallor, Patent ductus arteriosus, Pigmentary retinopathy, Polymicrogyria, Posterior embryotoxon, Posteriorly rotated ears, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Prolonged neonatal jaundice, Protruding tongue, Ptosis, Pulmonary hypoplasia, Pyloric stenosis, Reduced tendon reflexes, Redundant neck skin, Renal cortical microcysts, Renal cyst, Respiratory insufficiency, Rocker bottom foot, Rod-cone dystrophy, Round face, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Single transverse palmar crease, Skeletal dysplasia, Spasticity, Strabismus, Subependymal cysts, Talipes equinovarus, Ulnar deviation of the hand, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge, Widely patent fontanelles and sutures
EN-PFC2	ZNF333	0.261027634	0.006844847	DNA binding protein	BrainSpLMD|84449	OMIM|611811
EN-PFC2	SMN1	0.308307559	0.006981968	RNA binding protein		OMIM|600354;HPO|6606|Adult onset, Areflexia, Areflexia of lower limbs, Atrial septal defect, Autosomal recessive inheritance, Decreased fetal movement, Degeneration of anterior horn cells, EMG abnormality, EMG: neuropathic changes, Hand tremor, Hyporeflexia, Limb fasciculations, Muscle cramps, Muscle weakness, Progressive, Proximal amyotrophy, Proximal muscle weakness, Proximal muscle weakness in lower limbs, Recurrent respiratory infections, Respiratory failure, Slow progression, Spinal muscular atrophy, Tongue fasciculations, Ventricular septal defect
EN-PFC2	RPSAP47	1.721749788	0.007220768			
EN-PFC2	ZBED4	0.448396535	0.00756421	DNA binding protein	BrainSpLMD|9889	OMIM|612552
EN-PFC2	ITGB1BP1	0.430925184	0.007580176	Adapter molecule	BrainSpLMD|9270;Eurexp|euxassay_006800|left lung, right lung	OMIM|607153
EN-PFC2	MAP2K4	0.671179586	0.007980818	Dual specificity kinase	BrainSpLMD|6416;Eurexp|euxassay_018797|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|601335;COSMIC||pancreatic, breast, colorectal
EN-PFC2	SLC4A7	0.282188828	0.008398088	Transport/cargo protein	BrainSpLMD|9497	OMIM|603353
EN-PFC2	WDR36	0.731762866	0.008402861	Unclassified	BrainSpLMD|134430;Eurexp|euxassay_011586|left lung, liver, metanephros, midgut, pancreas, primitive seminiferous tubules, right lung, submandibular gland primordium	OMIM|609669;HPO|134430|Open angle glaucoma
EN-PFC2	MAN1A2	0.576239352	0.008421251	Enzyme: Hydrolase	BrainSpLMD|10905	OMIM|604345
EN-PFC2	ESYT2	0.477612897	0.00844165	Unclassified	BrainSpLMD|57488	OMIM|616691
EN-PFC2	ZNF280D	0.346166529	0.008536303	Transcription regulatory protein	BrainSpLMD|54816;Eurexp|euxassay_012797|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, retina, spinal cord, trigeminal V, vagus X	
EN-PFC2	TMEM208	0.279812442	0.008578545	Integral membrane protein	BrainSpLMD|29100	
EN-PFC2	LCMT1	0.463193525	0.008649383	Enzyme: Methyltransferase	BrainSpLMD|51451;Eurexp|euxassay_010513|mantle layer	OMIM|610286
EN-PFC2	CAPNS1	0.262363947	0.008692536	Regulatory/other subunit	BrainSpLMD|826;Eurexp|euxassay_007147|mantle layer, nucleus pulposus, ventral grey horn	OMIM|114170
EN-PFC2	RAD51C	0.299263766	0.008746793	DNA repair protein	BrainSpLMD|5889	OMIM|602774;HPO|5889|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of the fallopian tube, Absent thumb, Almond-shaped palpebral fissure, Anal atresia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Breast carcinoma, Cryptorchidism, Esophageal atresia, External genital hypoplasia, Global developmental delay, Hydronephrosis, Hypopigmented skin patches, Hypoplasia of the radius, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Ovarian neoplasm, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Rectal atresia, Renal cyst, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Stage 5 chronic kidney disease, Thrombocytopenia, Tracheoesophageal fistula
EN-PFC2	WDR54	0.553440133	0.008978303	Unclassified	BrainSpLMD|84058;Eurexp|euxassay_007433|embryo	
EN-PFC2	SEC23A	0.350034834	0.008984951	Transport/cargo protein	BrainSpLMD|10484;Eurexp|euxassay_010377|clavicle, mandible, maxilla, orbito-sphenoid, rib, turbinate bones	OMIM|610511;HPO|10484|Anteverted nares, Autosomal recessive inheritance, Brittle hair, Capillary hemangiomas, Carious teeth, Coarse hair, Cryptorchidism, Decreased skull ossification, Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Forehead hyperpigmentation, Frontal bossing, High iliac wings, Hyperpigmentation of the skin, Hypertelorism, Hypoplasia of teeth, Hypoplasia of the maxilla, Joint laxity, Large fontanelles, Long philtrum, Macrocephaly, Malar flattening, Microdontia, Midface retrusion, Narrow chest, Narrow iliac wings, Pes planus, Posterior Y-sutural cataract, Posterior wedging of vertebral bodies, Premature loss of teeth, Prominent nasal bridge, Prominent supraorbital ridges, Punctate cataract, Scoliosis, Short stature, Skeletal dysplasia, Smooth philtrum, Sparse hair, Sutural cataract, Thin upper lip vermilion, Thin vermilion border, Wide anterior fontanel, Wide mouth, Wide nasal bridge, Wide nose
EN-PFC2	FBXW11	0.69488106	0.009020201	Ubiquitin proteasome system protein	BrainSpLMD|23291;Eurexp|euxassay_007268|embryo	OMIM|605651
EN-PFC2	AGAP1	0.318600436	0.009354519	GTPase activating protein	BrainSpLMD|116987;Eurexp|euxassay_015873|basal plate, cerebellum, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, medulla oblongata, molar, neural retina, olfactory, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, 4 - Minimal evidence;OMIM|608651
EN-PFC2	ZSCAN26	0.749968678	0.009847225	DNA binding protein	BrainSpLMD|7741;Eurexp|euxassay_012055|external ear, hindgut, inner ear, marginal layer, metanephros, metatarsus, midgut, neural retina, oesophagus, otic capsule, rib, stomach, ventricular layer, vibrissa;BrainSpMouseDev|129320	OMIM|616474
nEN-early1	NDST4	2.700908235	0	Enzyme: Sulphotransferase	BrainSpLMD|64579;Eurexp|euxassay_009423|mantle layer;BrainSpMouseDev|41177	OMIM|615039
nEN-early1	CNTNAP2	2.18006067	0	Adhesion molecule	BrainSpLMD|26047;Eurexp|euxassay_011473|facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V	SFARI||Autism, 2 - Strong candidate;OMIM|604569;COSMIC||glioma, melanoma;HPO|26047|Cortical dysplasia, Delayed gross motor development, Hyperactivity, Impaired social interactions, Intellectual disability, Progressive language deterioration, Reduced tendon reflexes, Seizures
nEN-early1	SLC24A2	2.095910067	0	Membrane transport protein	BrainSpLMD|25769	SFARI||Autism, No category;OMIM|609838
nEN-early1	NEUROD1	1.965091972	0	Transcription factor	BrainSpLMD|4760;Eurexp|euxassay_019467|dorsal grey horn, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, pancreas, pineal primordium, pituitary, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17779	OMIM|601724;HPO|4760|Autosomal dominant inheritance, Maturity-onset diabetes of the young
nEN-early1	PRDM8	1.723583927	0	Unclassified	BrainSpLMD|56978;Eurexp|euxassay_003278|diencephalon, dorsal root ganglion, hindbrain, midbrain, spinal cord, telencephalon, trigeminal V	OMIM|616639;HPO|56978|Autosomal recessive inheritance, Dementia, Dysarthria, Generalized myoclonic seizures, Hallucinations, Hyperreflexia, Lafora bodies, Mutism, Myoclonus, Paranoia, Progressive, Progressive cerebellar ataxia, Psychosis, Spastic ataxia, Spastic tetraplegia, Urinary incontinence, Variable expressivity
nEN-early1	NEUROD6	1.635747803	0	Transcription factor	BrainSpLMD|63974;Eurexp|euxassay_017889|inner ear, mantle layer, olfactory, olfactory lobe;BrainSpMouseDev|11708	OMIM|611513
nEN-early1	SOX5	1.580393658	0	Transcription factor	BrainSpLMD|6660;BrainSpMouseDev|20440	SFARI||Autism, No category;OMIM|604975;HPO|6660|2-3 toe syndactyly, Abnormality of brain morphology, Anxiety, Autosomal dominant inheritance, Bulbous nose, Clinodactyly, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Exaggerated median tongue furrow, Exotropia, Facial asymmetry, Frontal bossing, Generalized hypotonia, Global developmental delay, Hyperplasia of the maxilla, Intellectual disability, Low-set ears, Lumbar hyperlordosis, Motor delay, Muscular hypotonia, Myopia, Narrow palate, Open mouth, Optic atrophy, Pectus carinatum, Phenotypic variability, Posteriorly rotated ears, Scoliosis, Strabismus, Thoracic kyphoscoliosis, Vertebral fusion, Wide nasal bridge
nEN-early1	PDE1A	1.543090936	0	Enzyme: Phosphodiesterase	BrainSpLMD|5136;BrainSpMouseDev|18339	OMIM|171890
nEN-early1	SHISA2	1.52087293	0	Integral membrane protein	BrainSpLMD|387914	OMIM|617324
nEN-early1	RASGEF1B	1.501083359	0	Guanine nucleotide exchange factor	BrainSpLMD|153020;Eurexp|euxassay_003547|basal plate, mantle layer, marginal layer, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|614532
nEN-early1	THSD7A	1.486934456	0	Unclassified	Eurexp|euxassay_013737|calyces, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, mesenchyme, midgut, neural retina, olfactory, stomach, thyroid, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612249
nEN-early1	PRKX	1.478278447	0	Serine/threonine kinase	BrainSpLMD|5613	OMIM|300083
nEN-early1	DCC	1.445079669	0	Cell surface receptor	BrainSpLMD|1630;Eurexp|euxassay_009578|mantle layer, marginal layer, neural retina, ventricular layer;BrainSpMouseDev|12956	OMIM|120470;COSMIC||CRC, melanoma, SCC;HPO|1630|Autosomal dominant inheritance, Bimanual synkinesia, Hereditary nonpolyposis colorectal carcinoma, Incomplete penetrance, Neoplasm of the stomach, Renal cell carcinoma, Squamous cell carcinoma, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma
nEN-early1	EPHA7	1.427831581	0	Receptor tyrosine kinase	BrainSpLMD|2045;Eurexp|euxassay_008884|eyelid, incisor, lip, lung, mantle layer, mesenchyme, metanephros, metatarsus, molar, palatal shelf, penis, phalanx, saccule, tongue, trigeminal V, urethra, valve;BrainSpMouseDev|13619	OMIM|602190;COSMIC||CRC, melanoma
nEN-early1	HECW1	1.375023764	0	Ubiquitin proteasome system protein	BrainSpLMD|23072;Eurexp|euxassay_009392|brain, cerebral cortex, facial VII, glossopharyngeal IX, mantle layer, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610384
nEN-early1	SEZ6	1.358923353	0	Integral membrane protein	BrainSpLMD|124925	OMIM|616666
nEN-early1	ABRACL	1.280029648	0	Unclassified	BrainSpLMD|58527	
nEN-early1	PPP2R2B	1.279516504	0	Regulatory/other subunit;Serine/threonine phosphatase	BrainSpLMD|5521;Eurexp|euxassay_007301|Meckel's cartilage, brain, eyelid, facial VII, glossopharyngeal IX, inner ear, left lung, neural retina, orbito-sphenoid, right lung, skeletal muscle, spinal cord, tongue, trigeminal V, turbinate, vagus X, vestibulocochlear VIII	OMIM|604325;HPO|5521|Abnormality of eye movement, Action tremor, Anxiety, Autosomal dominant inheritance, Axial dystonia, Cerebellar atrophy, Cerebral cortical atrophy, Delusions, Dementia, Depressivity, Dysarthria, Dysdiadochokinesis, Dysmetria, Facial myokymia, Head tremor, Hyperreflexia, Parkinsonism, Progressive cerebellar ataxia, Sensorimotor neuropathy
nEN-early1	SYT4	1.273653658	0	Calcium binding protein	BrainSpLMD|6860	OMIM|600103
nEN-early1	NFIA	1.256933204	0	Transcription factor	BrainSpLMD|4774;BrainSpMouseDev|17794	SFARI||Autism, 4 - Minimal evidence;OMIM|600727;HPO|4774|Agenesis of corpus callosum, Anteverted nares, Arnold-Chiari type I malformation, Broad face, Broad forehead, Cognitive impairment, Cutis marmorata, Generalized hypotonia, Global developmental delay, Hydronephrosis, Hypoplasia of the corpus callosum, Inguinal hernia, Intellectual disability, Low-set ears, Macrocephaly, Narrow mouth, Phenotypic variability, Renal hypoplasia, Seizures, Short chin, Short nose, Sporadic, Syringomyelia, Thin upper lip vermilion, Ventriculomegaly, Vesicoureteral reflux
nEN-early1	BCL11B	1.232168529	0	Transcription regulatory protein;DNA binding protein	BrainSpLMD|64919;BrainSpMouseDev|37240	OMIM|606558;COSMIC||T-ALL;HPO|64919|Absent speech, Autosomal dominant inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hirsutism, Hypertelorism, Inflammatory abnormality of the skin, Intellectual disability, Micrognathia, Natal tooth, Pulmonary artery stenosis, Seizures, Severe combined immunodeficiency, Short palpebral fissure, Spastic tetraplegia, Umbilical hernia, Wormian bones
nEN-early1	C14orf23	1.18468721	0			
nEN-early1	AKT3	1.136171222	0	Serine/threonine kinase	BrainSpLMD|10000;Eurexp|euxassay_006568|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611223;COSMIC||GBM;HPO|10000|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Cutis marmorata, Depressed nasal bridge, Hemimegalencephaly, High forehead, Hydrocephalus, Hyperextensible skin, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
nEN-early1	NFIB	1.133985491	0	Transcription factor	BrainSpLMD|4781;BrainSpMouseDev|17795	OMIM|600728;COSMIC||adenoid cystic carcinoma, lipoma
nEN-early1	EPB41L3	1.090274809	0	Structural protein	BrainSpLMD|23136	OMIM|605331
nEN-early1	XPR1	1.085112337	0	Integral membrane protein	BrainSpLMD|9213;Eurexp|euxassay_010259|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII	OMIM|605237;HPO|9213|Abnormality of neuronal migration, Adult onset, Autosomal dominant inheritance, Basal ganglia calcification, Cerebral calcification, Choreoathetosis, Corneal opacity, Dementia, Depressivity, Dysarthria, Hepatomegaly, Intrauterine growth retardation, Memory impairment, Microcephaly, Parkinsonism, Progressive, Seizures, Subcutaneous hemorrhage, Thrombocytopenia, Ventriculomegaly
nEN-early1	TBR1	1.076870153	0	Transcription factor	BrainSpLMD|10716;BrainSpMouseDev|21136	SFARI||Autism, 1 - High confidence;OMIM|604616;HPO|10716|Abnormality of oral frenula, Abnormality of the iris, Autistic behavior, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Cataract, Cleft palate, Coloboma, Downslanted palpebral fissures, Failure to thrive, Growth delay, Hand clenching, Hypertelorism, Intellectual disability, Long fingers, Low-set, posteriorly rotated ears, Microphthalmia, Neonatal hypotonia, Seizures, Severe global developmental delay, Short neck, Short philtrum, Small face, Small for gestational age, Toe syndactyly
nEN-early1	AUTS2	1.069229253	0	Unclassified	BrainSpLMD|26053	SFARI||Autism, 3 - Suggestive evidence;OMIM|607270;HPO|26053|Abnormal facial shape, Arthrogryposis multiplex congenita, Autism, Autosomal dominant inheritance, Brachycephaly, Cerebral palsy, Decreased palmar creases, Delayed speech and language development, Downslanted palpebral fissures, Feeding difficulties, Global developmental delay, Highly arched eyebrow, Hypertelorism, Intellectual disability, Kyphosis, Low-set ears, Microcephaly, Narrow mouth, Prominent nasal tip, Ptosis, Scoliosis, Short palpebral fissure, Short philtrum, Short stature, Small for gestational age, Strabismus, Thick eyebrow, Wide nasal base
nEN-early1	FEZF2	1.032186664	0	Transcription factor	BrainSpLMD|55079;Eurexp|euxassay_009770|mantle layer, ventricular layer, vomeronasal organ;BrainSpMouseDev|34002	SFARI||Autism, 4 - Minimal evidence;OMIM|607414
nEN-early1	BCL11A	0.99710095	0	DNA binding protein	BrainSpLMD|53335;Eurexp|euxassay_007892|dorsal grey horn, incisor, naris, olfactory, pharyngo-tympanic tube, submandibular gland primordium, vibrissa;BrainSpMouseDev|13802	SFARI||Autism, 2 - Strong candidate;OMIM|606557;COSMIC||B-CLL;HPO|53335|Autosomal dominant inheritance, Congenital onset, Cupped ear, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, Global developmental delay, Intellectual disability, Joint hypermobility, Low-set ears, Microcephaly, Midface retrusion, Overfolded helix, Retrognathia, Strabismus, Thin upper lip vermilion
nEN-early1	GAP43	0.992474093	0	Growth factor	BrainSpLMD|2596;Eurexp|euxassay_002973|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, midgut, nasal capsule, olfactory, rectum, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|14208	SFARI||Autism, 5 - Hypothesized but untested;OMIM|162060
nEN-early1	KCNQ3	0.956454823	0	Voltage gated channel	BrainSpLMD|3786;Eurexp|euxassay_008387|mantle layer, marginal layer, midgut, rib, ventral grey horn;BrainSpMouseDev|75016	SFARI||Autism, 3 - Suggestive evidence;OMIM|602232;HPO|3786|Abnormality of vision, Autosomal dominant inheritance, Choreoathetosis, Deeply set eye, Dysesthesia, Dyskinesia, Focal clonic seizures, Generalized tonic-clonic seizures, Hypertonia, Muscular hypotonia, Myoclonus, Reduced consciousness/confusion, Seizures
nEN-early1	NEUROD2	0.809646315	0	Transcription factor	BrainSpLMD|4761;Eurexp|euxassay_013855|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|17780	OMIM|601725
nEN-early1	FDFT1	0.792589319	0	Enzyme: Synthase	BrainSpLMD|2222;Eurexp|euxassay_005703|calyces, cerebral cortex, cervical, cervico-thoracic, cochlear component, dorsal root ganglion, epithelium, facial VII, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, inferior, inner ear, lens, loop, mantle layer, mesenteric artery, midgut, molar, nucleus pulposus, retina, skeleton, stomach, superior, tegmentum, thoracic, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|184420
nEN-early1	ZBTB18	0.747853553	0	Transcription regulatory protein	BrainSpLMD|10472	OMIM|608433;HPO|10472|Abnormality of the pinna, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Depressed nasal bridge, Epicanthus, Generalized hypotonia, Global developmental delay, Hypertelorism, Intellectual disability, Low-set ears, Microcephaly, Micrognathia, Prominent forehead, Round face, Seizures, Short stature, Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Variable expressivity
nEN-early1	RUNX1T1	0.524621954	0	Transcription regulatory protein	BrainSpLMD|862;Eurexp|euxassay_016597|dorsal grey horn, mantle layer;BrainSpMouseDev|12180	OMIM|133435;COSMIC||AML
nEN-early1	MAP1B	0.47219927	0	Cytoskeletal associated protein	BrainSpLMD|4131;Eurexp|euxassay_009367|brain, facial VII, glossopharyngeal IX, olfactory, peripheral nervous system, retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|157129
nEN-early1	YWHAZ	0.466328244	0	Adapter molecule	BrainSpLMD|7534	OMIM|601288
nEN-early1	PTPRZ1	0.415918057	0	Receptor tyrosine phosphatase	BrainSpLMD|5803;BrainSpMouseDev|19046	OMIM|176891
nEN-early1	TUBA1A	0.398963985	0	Cytoskeletal protein	BrainSpLMD|7846	OMIM|602529;HPO|7846|Agenesis of corpus callosum, Ataxia, Autosomal dominant inheritance, Cerebellar vermis hypoplasia, Generalized hypotonia, Heterotopia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, severe, Lissencephaly, Microcephaly, Motor delay, Pachygyria, Polymicrogyria, Seizures, Spastic tetraplegia, Ventriculomegaly
nEN-early1	CALM2	0.321707172	0	Calcium binding protein	BrainSpLMD|805	OMIM|114182;HPO|805|Autosomal dominant inheritance, Prolonged QT interval, Ventricular tachycardia, Vertigo
nEN-early1	STMN2	0.302864766	0	Cytoskeletal associated protein	BrainSpLMD|11075;Eurexp|euxassay_009268|cervical, cervico-thoracic, dorsal root ganglion, facial VII, footplate, forebrain, glossopharyngeal IX, handplate, hindbrain, hindgut, incisor, lip, midbrain, midgut, neural retina, oesophagus, olfactory, spinal cord, stomach, thoracic, thymus primordium, tongue, trigeminal V, vestibulocochlear VIII, vibrissa, visceral, vomeronasal organ	OMIM|600621
nEN-early1	ST6GAL2	1.059097677	1.11E-16	Enzyme: Sialyltransferase	BrainSpLMD|84620	OMIM|608472
nEN-early1	ST18	0.829861021	1.11E-16	Transcription regulatory protein	BrainSpLMD|9705;BrainSpMouseDev|88752	OMIM|617155
nEN-early1	MTRNR2L1	0.992164606	2.22E-16			OMIM|616985
nEN-early1	ZFPM2	1.391893608	8.88E-16	Transcription regulatory protein	BrainSpLMD|23414;Eurexp|euxassay_009941|mantle layer;BrainSpMouseDev|22519	OMIM|603693;HPO|23414|Abnormal nasal morphology, Abnormal sex determination, Abnormality of the labia, Abnormality of the scrotum, Ambiguous genitalia, Autosomal dominant inheritance, Azoospermia, Brachydactyly, Broad forehead, Clinodactyly of the 5th finger, Clitoral hypertrophy, Congenital diaphragmatic hernia, Cryptorchidism, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Dolichocephaly, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,XY karyotype, Fused labia minora, Gonadal dysgenesis, Gynecomastia, Hypergonadotropic hypogonadism, Hypoplasia of the vagina, Hypospadias, Intrauterine growth retardation, Male infertility, Micropenis, Osteoporosis, Preauricular pit, Primary amenorrhea, Proptosis, Sex reversal, Sparse axillary hair, Sparse pubic hair, Streak ovary, Tetralogy of Fallot, Thin vermilion border, Underdeveloped supraorbital ridges, Urogenital sinus anomaly, Vanishing testis
nEN-early1	OCIAD2	0.915695328	8.88E-16	Unclassified	BrainSpLMD|132299	
nEN-early1	MTRNR2L10	0.663881598	8.88E-16			
nEN-early1	ISLR2	1.485375159	9.99E-16	Unclassified	BrainSpLMD|57611	OMIM|614179
nEN-early1	DNMT3A	0.263272676	1.22E-15	DNA methyltransferase	BrainSpLMD|1788;BrainSpMouseDev|13214	SFARI||Autism, 3 - Suggestive evidence;OMIM|602769;COSMIC||AML;HPO|1788|Autosomal dominant inheritance, Blepharophimosis, Intellectual disability, Macrocephaly, Round face, Tall stature
nEN-early1	RP11.436K8.1	1.315237344	1.89E-15			
nEN-early1	PDGFC	1.327637155	2.89E-15	Growth factor	BrainSpLMD|56034;Eurexp|euxassay_003799|choroid plexus, cochlea, cochlear duct, cortex, epithelium, fundus region, gland, head mesenchyme, hindgut, left lung, loop, marginal layer, mesenchyme, midgut, naris, oesophagus, olfactory, penis, pharyngo-tympanic tube, rectum, respiratory, right lung, skeletal muscle, stomach, submandibular gland primordium, tongue, urethra, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|33926	OMIM|608452
nEN-early1	NKAIN1	1.215682723	2.89E-15	Integral membrane protein	BrainSpLMD|79570	OMIM|612871
nEN-early1	NREP	0.313997465	4.22E-15	Unclassified	BrainSpLMD|9315	OMIM|607332
nEN-early1	SORBS2	0.924242716	4.44E-15	Adapter molecule	BrainSpLMD|8470;Eurexp|euxassay_012430|axial skeleton, cochlea, excretory component, exoccipital bone, mantle layer, metatarsus, nasal septum, otic capsule, petrous part, phalanx, skeletal muscle, submandibular gland primordium, tarsus, thyroid, turbinate, ventricle, ventricular layer	OMIM|616349
nEN-early1	CXADR	0.343900776	4.55E-15	Cell surface receptor	BrainSpLMD|1525;Eurexp|euxassay_012371|bladder, cochlea, cortex, endolymphatic duct, epidermis, epithelium, facial VII, glossopharyngeal IX, incisor, larynx, left lung, mantle layer, marginal layer, meninges, mesothelium, metanephros, midgut, molar, neural retina, olfactory, oral epithelium, pancreas, pharyngo-tympanic tube, primitive seminiferous tubules, rectum, right lung, stomach, trachea, trigeminal V, urogenital mesentery, utricle, vagus X, vestibulocochlear VIII, vibrissa	OMIM|602621
nEN-early1	SYT1	1.107037814	5.55E-15	Calcium binding protein	BrainSpLMD|6857;Eurexp|euxassay_018026|adrenal gland, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, epithelium, external, facial VII, foregut-midgut junction, glossopharyngeal IX, hindbrain, hindgut, incisor, limb, mantle layer, marginal layer, mesenchyme, midbrain, midgut, neural retina, oesophagus, olfactory, oral epithelium, pectoralis major, pectoralis minor, pituitary, retina, spinal cord, stomach, stroma, thoracic, tongue, trigeminal V, ureter, urethra, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|20740	OMIM|185605
nEN-early1	DOCK4	0.520620538	7.33E-15	GTPase activating protein	BrainSpLMD|9732	SFARI||Autism, No category;OMIM|607679
nEN-early1	FSTL5	1.567667832	1.39E-14	Extracellular matrix protein	BrainSpLMD|56884	
nEN-early1	LRRC7	0.38878126	1.45E-14	Cell junction protein	BrainSpLMD|57554;Eurexp|euxassay_009687|brain, spinal cord	SFARI||Autism, No category;OMIM|614453
nEN-early1	MYT1L	0.589438095	3.29E-14	Transcription factor	BrainSpLMD|23040;BrainSpMouseDev|17700	SFARI||Autism, 1 - High confidence;OMIM|613084;HPO|23040|Aggressive behavior, Autosomal dominant inheritance, Delayed speech and language development, Global developmental delay, Intellectual disability, Obesity
nEN-early1	CCSER1	1.056493016	3.38E-14	Unclassified	BrainSpLMD|401145;Eurexp|euxassay_016073|cervical, cervico-thoracic, facial VII, glossopharyngeal IX, mantle layer, marginal layer, metanephros, thoracic, trachea	
nEN-early1	CACNA1E	0.96725654	5.40E-14	Voltage gated channel	BrainSpLMD|777;Eurexp|euxassay_006436|dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|601013
nEN-early1	H3F3A	0.388609593	5.88E-14	DNA binding protein		OMIM|601128;COSMIC||glioma
nEN-early1	ACLY	0.856946648	6.47E-14	ATPase	BrainSpLMD|47;Eurexp|euxassay_018561|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, medulla, molar, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|108728
nEN-early1	CORO2B	0.550804157	9.15E-14	Cytoskeletal associated protein	BrainSpLMD|10391	OMIM|605002
nEN-early1	ERC2	1.053842143	1.01E-13	Cytoskeletal associated protein	BrainSpLMD|26059;Eurexp|euxassay_003848|adenohypophysis, adrenal gland, bladder, brain, cervical, cervico-thoracic, dermis, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, lung, metanephros, midgut, oesophagus, olfactory, retina, spinal cord, stomach, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|617250
nEN-early1	FOXO6	1.201193203	1.05E-13			OMIM|611457
nEN-early1	CBLB	0.725996445	1.16E-13	Adapter molecule	BrainSpLMD|868;Eurexp|euxassay_012817|extrinsic ocular muscle, incisor, mantle layer, marginal layer, ventricular layer	OMIM|604491;COSMIC||AML
nEN-early1	EZR	0.29720191	1.22E-13	Anchor protein	BrainSpLMD|7430;Eurexp|euxassay_018306|axial skeleton, calyces, choroid plexus, cochlea, dorsal root ganglion, epidermis, epithelium, fundus region, hindgut, incisor, larynx, lens, lobe, lung, marginal layer, midgut, molar, oesophagus, oral epithelium, pelvis, penis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, rib, saccule, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricle, ventricular layer, vibrissa	OMIM|123900;COSMIC||NSCLC
nEN-early1	YWHAG	0.330580809	1.26E-13	Adapter molecule	BrainSpLMD|7532	OMIM|605356
nEN-early1	SPIRE1	0.895565151	1.41E-13	Transport/cargo protein	BrainSpLMD|56907	OMIM|609216
nEN-early1	SRRM4	0.79530502	3.05E-13	Unclassified	BrainSpLMD|84530	SFARI||Autism, 5 - Hypothesized but untested;OMIM|613103
nEN-early1	PGAP1	0.806861656	3.67E-13	Enzyme: Acyltransferase	BrainSpLMD|80055	OMIM|611655;HPO|80055|Abnormal electroretinogram, Abnormality of the dentition, Autosomal recessive inheritance, Cerebral atrophy, Global developmental delay, Intellectual disability, Macrotia, Microcephaly, Neonatal hypotonia, Retinal dystrophy, Short neck, Short stature, Wide mouth
nEN-early1	EML6	1.184044419	5.26E-13	Unclassified	Eurexp|euxassay_002686|cervical, cervico-thoracic, diencephalon, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, olfactory, stroma, thoracic, trigeminal V, ventral grey horn	
nEN-early1	MLLT11	0.302878803	5.52E-13	Unclassified	BrainSpLMD|10962;Eurexp|euxassay_010405|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|604684;COSMIC||ALL;HPO|10962|Autosomal dominant inheritance, Juvenile myelomonocytic leukemia, Somatic mutation
nEN-early1	C3orf14	1.055183579	6.00E-13	Unclassified	BrainSpLMD|57415	
nEN-early1	B3GAT1	1.306406186	7.54E-13	Integral membrane protein	BrainSpLMD|27087;Eurexp|euxassay_012950|mantle layer	OMIM|151290
nEN-early1	ANTXR2	2.095631911	1.55E-12	Cytoskeletal associated protein	BrainSpLMD|118429	OMIM|608041;HPO|118429|Abnormal diaphysis morphology, Abnormality of dental morphology, Abnormality of the adrenal glands, Abnormality of the hair, Abnormality of the skull, Aplasia/Hypoplasia of the skin, Aplasia/Hypoplasia of the thymus, Autosomal recessive inheritance, Brachydactyly, Camptodactyly of finger, Chronic diarrhea, Coarse facial features, Death in infancy, Diarrhea, Failure to thrive, Feeding difficulties, Gingival fibromatosis, Gingival overgrowth, Hyperpigmentation of the skin, Immunodeficiency, Joint stiffness, Lymphedema, Macrocephaly, Micromelia, Muscular hypotonia, Osteolysis, Osteomalacia, Osteopenia, Osteoporosis, Papule, Polycystic ovaries, Progressive, Progressive flexion contractures, Recurrent bacterial infections, Recurrent fractures, Recurrent infections, Severe short stature, Short neck, Short palm, Skin ulcer, Steatorrhea, Subcutaneous nodule, Telangiectasia of the skin, Thickened skin, Urticaria, Variable expressivity
nEN-early1	KIDINS220	0.360424261	1.78E-12	Integral membrane protein	Eurexp|euxassay_009418|brain, cervical, cervico-thoracic, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|615759;HPO|57498|Astigmatism, Autosomal dominant inheritance, Cerebral atrophy, Deeply set eye, Delayed myelination, Delayed speech and language development, Dilation of lateral ventricles, Esotropia, Full cheeks, Global developmental delay, Hypermetropia, Hyperreflexia, Infantile onset, Intellectual disability, Limb hypertonia, Muscular hypotonia of the trunk, Nystagmus, Prominent forehead, Reduced visual acuity, Spastic paraplegia
nEN-early1	ELAVL4	1.057810919	2.00E-12	RNA binding protein	BrainSpLMD|1996	OMIM|168360
nEN-early1	AMER2	0.532441586	3.08E-12	Unclassified	BrainSpLMD|219287;Eurexp|euxassay_006362|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614659
nEN-early1	TTC28	0.751672824	3.21E-12	Unclassified	BrainSpLMD|23331	OMIM|615098
nEN-early1	CTTNBP2	0.677388628	4.15E-12	Unclassified	BrainSpLMD|83992;Eurexp|euxassay_015493|dorsal grey horn, limb, mantle layer, penis, thalamus;BrainSpMouseDev|29776	SFARI||Autism, 3 - Suggestive evidence;OMIM|609772
nEN-early1	DRAXIN	0.465480914	4.19E-12	Unclassified	BrainSpLMD|374946;Eurexp|euxassay_006367|cerebral cortex, dorsal root ganglion, glossopharyngeal IX, lateral wall, mantle layer, marginal layer, meninges, neural retina, pons, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|46274	OMIM|612682
nEN-early1	FAM126A	0.869478418	4.84E-12	Unclassified	BrainSpLMD|84668;Eurexp|euxassay_013806|olfactory, ventricular layer	OMIM|610531;HPO|84668|Abnormal pyramidal signs, Abnormality of the cerebellum, Autosomal recessive inheritance, Babinski sign, Cerebral hypomyelination, Cerebral white matter atrophy, Congenital cataract, Decreased motor nerve conduction velocity, Dysarthria, Global developmental delay, Hyperreflexia, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intention tremor, Leukodystrophy, Loss of ability to walk, Lower limb amyotrophy, Lower limb muscle weakness, Motor delay, Muscular hypotonia of the trunk, Polyneuropathy, Scoliosis, Seizures, Truncal titubation, Variable expressivity
nEN-early1	HN1	0.412200642	5.88E-12			
nEN-early1	EML1	0.408105426	6.14E-12	Structural protein	BrainSpLMD|2009	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602033;HPO|2009|Agenesis of corpus callosum, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Intellectual disability, severe, Macrocephaly, Polymicrogyria, Seizures, Sleep disturbance, Spasticity
nEN-early1	PPP1R17	1.626963406	7.47E-12	Unclassified	BrainSpLMD|10842;Eurexp|euxassay_003055|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, stroma, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|604088
nEN-early1	PSMB5	0.650116101	8.52E-12	Ubiquitin proteasome system protein	BrainSpLMD|5693;Eurexp|euxassay_005692|embryo	OMIM|600306
nEN-early1	SERINC5	0.655748753	1.04E-11	Unclassified	BrainSpLMD|256987;Eurexp|euxassay_011506|anterior, clavicle, floor plate, floorplate, incisor, mantle layer, marginal layer, molar, phalanx, thyroid, ventricular layer, vibrissa	OMIM|614551
nEN-early1	AC004054.1	1.520919017	1.11E-11			
nEN-early1	EPHA5	0.96050373	1.23E-11	Receptor tyrosine kinase	BrainSpLMD|2044;Eurexp|euxassay_018953|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|13617	OMIM|600004
nEN-early1	SCD	0.287339111	1.31E-11	Enzyme: Oxidoreductase	BrainSpLMD|6319;Eurexp|euxassay_012236|adrenal gland, axial skeleton, basal columns, cervico-thoracic, clavicle, dorsal root ganglion, ductus deferens, embryo, facial VII, glossopharyngeal IX, hindgut, incisor, larynx, lens, lobe, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, neural retina, nucleus pulposus, orbito-sphenoid, otic capsule, pancreas, petrous part, pharyngo-tympanic tube, pituitary, rectum, rib, skeletal muscle, stomach, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, turbinate, urethra, vagus X, vault of skull, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|604031
nEN-early1	SLC17A7	1.206181012	1.35E-11	Transport/cargo protein	BrainSpLMD|57030;BrainSpMouseDev|48802	OMIM|605208
nEN-early1	NEO1	1.059912167	1.38E-11	Cell surface receptor	BrainSpLMD|4756;Eurexp|euxassay_018461|axial skeleton, diaphragm, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lung, mandible, mantle layer, marginal layer, maxilla, nasal septum, pericardial cavity, turbinate bones, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|17774	SFARI||Autism, 4 - Minimal evidence;OMIM|601907
nEN-early1	RBFOX3	1.157791368	1.70E-11			OMIM|616999
nEN-early1	CAP2	0.90702691	2.67E-11	Unclassified	BrainSpLMD|10486;Eurexp|euxassay_002560|diaphragm, head mesenchyme, marginal layer, tongue, vertebral axis muscle system	
nEN-early1	SLC6A15	1.117860746	3.82E-11	Membrane transport protein	BrainSpLMD|55117;Eurexp|euxassay_012147|choroid invagination, choroid plexus, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, midgut, olfactory, roof plate, stomach, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|607971
nEN-early1	LRP8	0.569994358	4.47E-11	Cell surface receptor	BrainSpLMD|7804;BrainSpMouseDev|16745	OMIM|602600
nEN-early1	USP49	0.957089734	7.05E-11	Cysteine protease	BrainSpLMD|25862	
nEN-early1	PHF14	0.907922384	8.85E-11	Unclassified	BrainSpLMD|9678;Eurexp|euxassay_011481|cortex, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, incisor, lung, midbrain, molar, neural retina, oesophagus, phalanx, pharyngo-tympanic tube, spinal cord, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	
nEN-early1	CLVS1	0.76243605	9.65E-11	Unclassified	BrainSpLMD|157807	OMIM|611292
nEN-early1	KIT	1.262479789	1.07E-10	Receptor tyrosine kinase	BrainSpLMD|3815;BrainSpMouseDev|16363	SFARI||Autism, No category;OMIM|164920;COSMIC||GIST, AML, TGCT, mastocytosis, mucosal melanoma, GIST, epithelioma, Piebald trait;HPO|3815|Abnormal blistering of the skin, Abnormality of metabolism/homeostasis, Abnormality of the ear, Absent pigmentation of the ventral chest, Acute myeloid leukemia, Aganglionic megacolon, Autosomal dominant inheritance, Chronic myelogenous leukemia, Chronic myelomonocytic leukemia, Constipation, Cryptorchidism, Cutaneous mastocytosis, Dysphagia, Eosinophilia, Erythema, Erythroderma, Fatigue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Gonadal dysgenesis, Heterochromia iridis, Hypermelanotic macule, Hyperpigmentation of the skin, Hypopigmented skin patches, Intestinal obstruction, Large hands, Macule, Mastocytosis, Myelodysplasia, Nausea and vomiting, Neoplasm, Neoplasm of the stomach, Neurofibromas, Partial albinism, Piebaldism, Profuse pigmented skin lesions, Pruritus, Sarcoma, Somatic mutation, Sporadic, Subcutaneous nodule, Telangiectasia macularis eruptiva perstans, Teratoma, Thickened skin, Urticaria, White eyebrow, White eyelashes, White forelock
nEN-early1	PHYHIP	1.109185322	1.18E-10	Unclassified	BrainSpLMD|9796;Eurexp|euxassay_002108|axial skeleton, epidermis, mantle layer, marginal layer, naris, oesophagus, olfactory, ventral grey horn, vibrissa	OMIM|608511
nEN-early1	ATXN7L3B	0.369585892	1.26E-10	-	BrainSpLMD|552889	OMIM|615579
nEN-early1	RP11.120J1.1	1.953477754	1.26E-10			
nEN-early1	KIF21B	0.75239325	1.26E-10	Unclassified	BrainSpLMD|23046;Eurexp|euxassay_011005|dorsal root ganglion, facial VII, forebrain, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|608322
nEN-early1	PAK7	0.311781952	1.33E-10			
nEN-early1	TMEM33	0.455053178	1.53E-10	Unclassified	BrainSpLMD|55161;Eurexp|euxassay_004897|dorsal root ganglion, glossopharyngeal IX, olfactory, respiratory, submandibular gland primordium, trigeminal V, vagus X, vibrissa	
nEN-early1	ASXL3	0.937719625	1.62E-10	Unclassified		SFARI||Autism, 1 - High confidence;OMIM|615115;HPO|80816|Anteverted nares, Feeding difficulties, Highly arched eyebrow, Severe global developmental delay, Severe postnatal growth retardation
nEN-early1	NRN1	1.58649955	1.63E-10	Secreted polypeptide	BrainSpLMD|51299;Eurexp|euxassay_003207|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lobe, mantle layer, marginal layer, mesenchyme, midgut, penis, physiological umbilical hernia, rectum, stroma, trigeminal V, urethra, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|44246	OMIM|607409
nEN-early1	BZW2	0.393434525	1.70E-10	Translation regulatory protein	BrainSpLMD|28969	
nEN-early1	AFF3	0.793886561	2.16E-10	Transcription factor	BrainSpLMD|3899;BrainSpMouseDev|16536	OMIM|601464;COSMIC||ALL, T-ALL
nEN-early1	ALPK1	1.668691516	2.18E-10	Enzyme: Phosphotransferase	BrainSpLMD|80216	OMIM|607347
nEN-early1	PAFAH1B2	0.529494352	2.19E-10	Enzyme: Hydrolase	BrainSpLMD|5049;Eurexp|euxassay_003490|embryo	OMIM|602508;COSMIC||MLCLS
nEN-early1	TMSB10	0.345659719	2.25E-10	Cytoskeletal associated protein	BrainSpLMD|9168	OMIM|188399
nEN-early1	ANK3	0.945447791	2.30E-10	Adapter molecule	BrainSpLMD|288;BrainSpMouseDev|11522	SFARI||Autism, No category;OMIM|600465;HPO|288|Aggressive behavior, Autosomal recessive inheritance, Bruxism, Generalized hypotonia, Hyperactivity, Intellectual disability, Intellectual disability, moderate, Spasticity
nEN-early1	TSPAN13	0.677385638	2.37E-10	Integral membrane protein	BrainSpLMD|27075;Eurexp|euxassay_003891|brain, cervical, cervico-thoracic, dorsal root ganglion, ductus deferens, facial VII, fundus region, glossopharyngeal IX, left lung, neural retina, olfactory, physiological umbilical hernia, rectum, right lung, spinal cord, stomach, thoracic, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII	OMIM|613139
nEN-early1	EFR3B	1.026423558	2.38E-10	Unclassified	BrainSpLMD|22979	OMIM|616797
nEN-early1	H3F3AP4	0.487373221	2.49E-10			
nEN-early1	SLIT1	0.712101985	2.49E-10	Ligand	BrainSpLMD|6585;BrainSpMouseDev|20324	OMIM|603742
nEN-early1	LDOC1	0.392602746	2.49E-10	Transcription regulatory protein	BrainSpLMD|23641	OMIM|300402
nEN-early1	NHLH2	1.774766633	2.93E-10	Transcription factor	BrainSpLMD|4808;Eurexp|euxassay_019487|dorsal root ganglion, mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|17839	OMIM|162361
nEN-early1	SYT14	0.381177204	2.96E-10	Membrane transport protein	BrainSpLMD|255928	OMIM|610949;HPO|255928|Autosomal recessive inheritance, Cerebellar atrophy, Dysarthria, Global developmental delay, Impaired smooth pursuit, Limb ataxia, Slow progression, Truncal ataxia
nEN-early1	ZNF462	0.666393549	3.37E-10	Transcription regulatory protein	BrainSpLMD|58499;Eurexp|euxassay_016001|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, incisor, inner ear, mandible, mantle layer, mesenchyme, metanephros, molar, neural retina, penis, pharyngo-tympanic tube, submandibular gland primordium, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|88953	SFARI||Autism, 4 - Minimal evidence;OMIM|617371
nEN-early1	FAM49A	0.672553998	3.67E-10	Unclassified	BrainSpLMD|81553;Eurexp|euxassay_007357|mantle layer	
nEN-early1	USP22	0.443280229	3.75E-10	Unclassified	Eurexp|euxassay_000296|alar plate, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral wall, lens, medulla oblongata, meninges, metencephalon, neural retina, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612116
nEN-early1	LPPR1	0.916637085	4.83E-10			
nEN-early1	BAIAP2.AS1	1.189380295	4.95E-10			
nEN-early1	VRK1	0.721751555	5.21E-10	Serine/threonine kinase	BrainSpLMD|7443	OMIM|602168;HPO|7443|Abnormality of the foot, Ataxia, Autosomal recessive inheritance, Basal ganglia gliosis, Cerebellar hypoplasia, Congenital contracture, Congenital onset, Degeneration of anterior horn cells, EMG: neuropathic changes, Fasciculations, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hyperreflexia, Hypoplasia of the pons, Hypoplasia of the ventral pons, Intellectual disability, Muscle weakness, Neuronal loss in basal ganglia, Progressive, Respiratory insufficiency, Spinal muscular atrophy
nEN-early1	RCAN3	1.937403691	5.22E-10	Unclassified	BrainSpLMD|11123	OMIM|605860
nEN-early1	CFL1	0.39535041	5.34E-10	Cytoskeletal associated protein	BrainSpLMD|1072	OMIM|601442
nEN-early1	RAPGEF2	0.467752674	5.76E-10	Guanine nucleotide exchange factor	BrainSpLMD|9693;Eurexp|euxassay_014449|olfactory	OMIM|609530
nEN-early1	3-Sep	0.469325425	7.66E-10			
nEN-early1	NHSL1	0.585809655	7.79E-10	Unclassified		
nEN-early1	FRMD4B	1.007250158	7.86E-10	Unclassified		OMIM|617467
nEN-early1	FAM117B	0.393861564	8.38E-10	Unclassified	BrainSpLMD|150864	
nEN-early1	SEMA3A	0.958780028	9.23E-10	Ligand	BrainSpLMD|10371;BrainSpMouseDev|20109	OMIM|603961;HPO|10371|Abnormality of the voice, Anosmia, Anterior hypopituitarism, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Delayed puberty, Erectile abnormalities, Hypogonadotrophic hypogonadism, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Reduced bone mineral density
nEN-early1	EFNB2	0.488545672	1.33E-09	Membrane bound ligand	BrainSpLMD|1948;Eurexp|euxassay_018950|bladder, incisor, lung, mantle layer, mesenchyme, metanephros, molar, oesophagus, pericardium, submandibular gland primordium, urethra, ventricular layer, vibrissa;BrainSpMouseDev|13420	OMIM|600527
nEN-early1	PTCHD2	0.557034263	1.94E-09			
nEN-early1	GRIK2	0.705880527	2.13E-09	Extracellular ligand gated channel	BrainSpLMD|2898;Eurexp|euxassay_008383|cerebellum, cortex, diencephalon, footplate, hindgut, medulla oblongata, midbrain, midgut, pituitary, pons, spinal cord, stomach, telencephalon, tongue, trigeminal V;BrainSpMouseDev|14582	SFARI||Autism, 3 - Suggestive evidence;OMIM|138244;HPO|2898|Autosomal recessive inheritance, Global developmental delay, Infantile onset, Intellectual disability
nEN-early1	MTND1P23	0.927044944	2.17E-09			
nEN-early1	CFTR	1.72119068	2.40E-09	Membrane transport protein	BrainSpLMD|1080	OMIM|602421;HPO|1080|Abdominal pain, Abnormal enzyme/coenzyme activity, Absent vas deferens, Asthma, Autosomal recessive inheritance, Azoospermia, Biliary cirrhosis, Bronchiectasis, Chronic lung disease, Cor pulmonale, Decreased antibody level in blood, Decreased testicular size, Elevated C-reactive protein level, Elevated sweat chloride, Exocrine pancreatic insufficiency, Failure to thrive, Heterogeneous, Hypercalciuria, Immunodeficiency, Increased circulating gonadotropin level, Leukocytosis, Malabsorption, Male infertility, Meconium ileus, Non-obstructive azoospermia, Obstructive azoospermia, Pulmonary fibrosis, Rectal prolapse, Recurrent bronchopulmonary infections, Recurrent pancreatitis, Recurrent pneumonia, Recurrent respiratory infections
nEN-early1	TIAM2	0.968077331	2.41E-09	Guanine nucleotide exchange factor	BrainSpLMD|26230;BrainSpMouseDev|23752	OMIM|604709
nEN-early1	THBS1	0.38383915	2.48E-09	Extracellular matrix protein	BrainSpLMD|7057;Eurexp|euxassay_005711|axial skeleton, clavicle, cranium, footplate, handplate, left lung, lip, liver, mesenchyme, naris, rest of mesenchyme, right lung, sternum, turbinate bones	SFARI||Autism, No category;OMIM|188060
nEN-early1	MAP2	0.489536272	2.67E-09	Cytoskeletal associated protein	BrainSpLMD|4133;Eurexp|euxassay_015099|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|17523	SFARI||Autism, 5 - Hypothesized but untested;OMIM|157130
nEN-early1	ADCYAP1R1	0.457990771	2.80E-09	G protein coupled receptor	BrainSpLMD|117;Eurexp|euxassay_009317|brain, cervical, cervico-thoracic, medulla, mesenchyme, midgut, oesophagus, spinal cord, stomach, thoracic, tongue, trigeminal V, ventricle, ventricular layer;BrainSpMouseDev|11304	OMIM|102981
nEN-early1	NELL2	0.44503781	2.84E-09	Calcium binding protein	BrainSpLMD|4753;Eurexp|euxassay_010538|axial skeleton, brachial plexus, dorsal root ganglion, footplate, handplate, head mesenchyme, incisor, mantle layer, marginal layer, mesenchyme, mesentery, molar, neural retina, olfactory, paraxial mesenchyme, perioptic mesenchyme, peritoneal cavity, rib, ventricular layer	OMIM|602320
nEN-early1	CEP170	0.264737258	2.95E-09	Unclassified	BrainSpLMD|9859	OMIM|613023
nEN-early1	PTPRS	0.488782663	3.32E-09	Receptor tyrosine phosphatase	BrainSpLMD|5802;Eurexp|euxassay_009779|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|601576
nEN-early1	L1CAM	0.498489859	4.75E-09	Adhesion molecule	BrainSpLMD|3897;Eurexp|euxassay_016867|alar columns, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vagus X, ventral grey horn, ventricle, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|16500	OMIM|308840;HPO|3897|Abnormal facial shape, Absent septum pellucidum, Adducted thumb, Aganglionic megacolon, Agenesis of corpus callosum, Aphasia, Aqueductal stenosis, Camptodactyly of finger, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Corticospinal tract hypoplasia, Delayed speech and language development, Flexion contracture of thumb, Gait disturbance, Hand clenching, Hemiplegia/hemiparesis, Hydrocephalus, Hyperlordosis, Hyperreflexia, Increased intracranial pressure, Inferior vermis hypoplasia, Intellectual disability, Intellectual disability, severe, Kyphosis, Macrocephaly, Microcephaly, Muscle weakness, Partial agenesis of the corpus callosum, Pes cavus, Seizures, Short stature, Shuffling gait, Spastic paraplegia, Spasticity, Strabismus, Talipes equinovarus, Ventriculomegaly, X-linked recessive inheritance
nEN-early1	PDE1C	0.866489463	5.72E-09	Enzyme: Phosphodiesterase	BrainSpLMD|5137;BrainSpMouseDev|18341	SFARI||Autism, No category;OMIM|602987
nEN-early1	YWHAE	0.28010187	6.21E-09	Adapter molecule	BrainSpLMD|7531;Eurexp|euxassay_018722|embryo	SFARI||Autism, 4 - Minimal evidence;OMIM|605066;COSMIC||endometrial stromal sarcoma, Miller-Dieker lissencephaly syndrome;HPO|7531|Abnormality of the cardiovascular system, Abnormality of upper lip, Anteverted nares, Cerebral cortical atrophy, Downslanted palpebral fissures, EEG abnormality, Epicanthus, Frontal bossing, Global developmental delay, Growth delay, High forehead, Hypertelorism, Lissencephaly, Low-set ears, Muscular hypotonia, Narrow mouth, Polyhydramnios, Seizures, Short neck, Short nose, Wide nose
nEN-early1	NPTX1	1.234113988	7.25E-09	Transport/cargo protein	BrainSpLMD|4884;Eurexp|euxassay_009619|dorsal root ganglion, mantle layer, molar, trigeminal V, ventral grey horn	OMIM|602367
nEN-early1	HDAC2	0.290344814	7.55E-09	Transcription regulatory protein	BrainSpLMD|3066;BrainSpMouseDev|14958	OMIM|605164
nEN-early1	CCSAP	0.865196056	8.12E-09	Unclassified	BrainSpLMD|126731;Eurexp|euxassay_014272|olfactory, ventricular layer, vomeronasal organ	OMIM|616762
nEN-early1	GLB1L2	1.718284292	9.61E-09	Unclassified	BrainSpLMD|89944;Eurexp|euxassay_008223|anterior, bladder, calyces, molar, olfactory, pelvis, ureter, vestibulocochlear VIII	
nEN-early1	CD24	0.265452415	1.01E-08		BrainSpLMD|100133941;BrainSpMouseDev|12269	OMIM|600074
nEN-early1	MYO5B	0.87832491	1.11E-08	Structural protein	BrainSpLMD|4645;Eurexp|euxassay_010054|choroid plexus, cortex, mantle layer, midgut, skeletal muscle, vestibulocochlear VIII	OMIM|606540;HPO|4645|Autosomal recessive inheritance, Death in infancy, Dehydration, Growth delay, Malnutrition, Protracted diarrhea, Villous atrophy
nEN-early1	MPRIP.AS1	0.35566116	1.14E-08			
nEN-early1	ATCAY	0.586073729	1.26E-08	Integral membrane protein	BrainSpLMD|85300;Eurexp|euxassay_004136|brain, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, midgut, neural retina, olfactory, spinal cord, stomach, telencephalon, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608179;HPO|85300|Autosomal recessive inheritance, Broad-based gait, Dysarthria, Gait ataxia, Generalized hypotonia, Global developmental delay, Intention tremor, Nystagmus
nEN-early1	RP11.642D21.1	1.980841912	1.31E-08			
nEN-early1	PFDN2	0.574732069	1.35E-08	Chaperone	BrainSpLMD|5202	OMIM|613466
nEN-early1	ATP9A	0.361956114	1.39E-08	ATPase		OMIM|609126
nEN-early1	CADPS	0.589173692	1.54E-08	Membrane transport protein	BrainSpLMD|8618;Eurexp|euxassay_006311|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral wall, mantle layer, meninges, neural retina, olfactory, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|604667
nEN-early1	KIF5C	0.730770741	1.64E-08	Motor protein	BrainSpLMD|3800;Eurexp|euxassay_015929|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, olfactory, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|16347	SFARI||Autism, No category;OMIM|604593;HPO|3800|Absent speech, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Congenital onset, Cortical dysplasia, Fetal akinesia sequence, Global developmental delay, Hypoplasia of the corpus callosum, Intrauterine growth retardation, Microcephaly, Polymicrogyria, Seizures, Spastic tetraplegia, Variable expressivity
nEN-early1	FOXG1	0.432408142	1.78E-08	Transcription factor	BrainSpLMD|2290;Eurexp|euxassay_017858|glossopharyngeal IX, mantle layer, molar, olfactory, thymus primordium, vestibulocochlear VIII;BrainSpMouseDev|15004	SFARI||Autism, No category;OMIM|164874;HPO|2290|Abnormality of movement, Abnormality of the antihelix, Abnormality of the antitragus, Abnormality of the fingernails, Abnormality of the metacarpal bones, Absent speech, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Apraxia, Athetosis, Autosomal dominant inheritance, Blepharophimosis, Bruxism, Bulbous nose, Camptodactyly of finger, Cerebral cortical atrophy, Chorea, Clinodactyly of the 5th finger, Constipation, Cortical gyral simplification, Delayed myelination, Depressed nasal bridge, Developmental regression, Downslanted palpebral fissures, Drooling, Dyskinesia, Dystonia, EEG abnormality, Epicanthus, Everted lower lip vermilion, Excessive salivation, Feeding difficulties, Fine hair, Gastroesophageal reflux, Growth delay, Hearing impairment, Hypoplasia of the corpus callosum, Intellectual disability, Intellectual disability, severe, Kyphosis, Long philtrum, Macroglossia, Mandibular prognathia, Microcephaly, Motor delay, Muscular hypotonia, Neonatal hypotonia, Nephrolithiasis, Pachygyria, Palpebral edema, Pes planus, Poor eye contact, Progressive microcephaly, Prominent metopic ridge, Protruding ear, Scoliosis, Seizures, Short nose, Smooth philtrum, Spasticity, Sporadic, Stereotypy, Talipes equinovarus, Tented upper lip vermilion, Thick vermilion border, Tongue thrusting, Underdeveloped nasal alae, Ventriculomegaly, Wide mouth, Wide nose
nEN-early1	PTPN4	0.581276647	1.80E-08	Tyrosine phosphatase	BrainSpLMD|5775;Eurexp|euxassay_009725|mantle layer, marginal layer, ventricular layer	OMIM|176878
nEN-early1	KIAA1456	0.45270295	1.83E-08	Unclassified;Enzyme: Aminomethyl transferase	BrainSpLMD|57604;BrainSpMouseDev|106517	OMIM|615666
nEN-early1	CELSR2	0.730963611	1.91E-08	G protein coupled receptor	BrainSpLMD|1952;Eurexp|euxassay_008296|brain, spinal cord, vibrissa;BrainSpMouseDev|33178	OMIM|604265
nEN-early1	CELF2	0.367811753	2.09E-08	RNA binding protein	BrainSpLMD|10659;Eurexp|euxassay_015501|brain, spinal cord	OMIM|602538
nEN-early1	RP11.10B2.1	0.592881245	2.17E-08			
nEN-early1	GRIA3	0.695812593	2.26E-08	Extracellular ligand gated channel	BrainSpLMD|2892;BrainSpMouseDev|32941	OMIM|305915;HPO|2892|Aggressive behavior, Brachycephaly, Deeply set eye, Intellectual disability, Intellectual disability, severe, Prominent supraorbital ridges, Short stature, X-linked recessive inheritance
nEN-early1	MASP1	0.885637294	2.30E-08	Serine protease	BrainSpLMD|5648	OMIM|600521;HPO|5648|Abnormality of eye movement, Abnormality of the anterior chamber, Atrial septal defect, Autosomal recessive inheritance, Bilateral cryptorchidism, Blepharophimosis, Broad foot, Caudal appendage, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Conductive hearing impairment, Conjunctival telangiectasia, Coronal craniosynostosis, Craniosynostosis, Dental crowding, Diastasis recti, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus inversus, Glaucoma, Growth delay, Hearing impairment, Highly arched eyebrow, Hydronephrosis, Hyperlordosis, Hypertelorism, Intellectual disability, Intellectual disability, mild, Lambdoidal craniosynostosis, Large fleshy ears, Limited pronation/supination of forearm, Microcephaly, Omphalocele, Oral cleft, Patent ductus arteriosus, Postnatal growth retardation, Ptosis, Radioulnar synostosis, Sacral dimple, Scoliosis, Short 5th finger, Short foot, Single interphalangeal crease of fifth finger, Skull asymmetry, Spina bifida occulta, Supernumerary nipple, Telecanthus, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide anterior fontanel
nEN-early1	CPEB4	0.769890633	2.35E-08	RNA binding protein	BrainSpLMD|80315	OMIM|610607
nEN-early1	CSRP2	0.319686281	2.38E-08	Adapter molecule	BrainSpLMD|1466;Eurexp|euxassay_016538|aorta, bladder, dorsal grey horn, hindgut, intermediate grey horn, mantle layer, midgut, neural retina, orbito-sphenoid, pancreas, skeletal muscle, stomach, temporal bone, turbinate, vault of skull	OMIM|601871
nEN-early1	RP1.78O14.1	0.760807673	2.49E-08			
nEN-early1	COX6B1	0.613857518	2.53E-08	Enzyme: Oxidoreductase	BrainSpLMD|1340	OMIM|124089;HPO|1340|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
nEN-early1	SCN3B	0.381354929	2.63E-08	Voltage gated channel	BrainSpLMD|55800;Eurexp|euxassay_012281|cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, midgut, neural retina, olfactory, skeletal muscle, stomach, thoracic, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|608214;HPO|55800|Atrial flutter, Autosomal dominant inheritance, ST segment elevation
nEN-early1	SUPT20H	0.873604777	2.66E-08	Transcription regulatory protein	BrainSpLMD|55578;Eurexp|euxassay_002226|foregut-midgut junction, hindgut, midgut, rectum, stomach	OMIM|613417
nEN-early1	ATP1A3	0.269984414	2.77E-08	Transport/cargo protein	BrainSpLMD|478	SFARI||Autism, No category;OMIM|182350;HPO|478|Anxiety, Areflexia, Ataxia, Autosomal dominant inheritance, Blindness, Bradykinesia, Choreoathetosis, Depressivity, Drooling, Dysarthria, Dysmetria, Dysphagia, Dystonia, Emotional lability, Episodic ataxia, Episodic generalized hypotonia, Episodic quadriplegia, Gait ataxia, Global developmental delay, Hemiparesis, Hemiplegia, Hypomimic face, Incomplete penetrance, Intellectual disability, Mental deterioration, Muscle weakness, Mutism, Nystagmus, Optic atrophy, Parkinsonism, Pes cavus, Postural instability, Progressive sensorineural hearing impairment, Progressive visual loss, Status epilepticus, Torticollis, Truncal ataxia, Unsteady gait, Young adult onset
nEN-early1	SBK1	0.821040176	2.91E-08	Serine/threonine kinase		
nEN-early1	ZNF195	0.338013703	2.91E-08	Transcription factor	BrainSpLMD|7748	OMIM|602187
nEN-early1	RP11.181B18.1	1.097175947	2.92E-08			
nEN-early1	TUBB3	0.444632286	3.01E-08	Structural protein	Eurexp|euxassay_015339|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, stroma, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|21909	OMIM|602661;HPO|10381|Agenesis of corpus callosum, Amblyopia, Autosomal dominant inheritance, Compensatory chin elevation, Congenital fibrosis of extraocular muscles, Congenital onset, Cortical dysplasia, Exotropia, Global developmental delay, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, moderate, Levator palpebrae superioris atrophy, Lissencephaly, Microcephaly, Muscular hypotonia of the trunk, Nonprogressive restrictive external ophthalmoplegia, Nystagmus, Phenotypic variability, Polymicrogyria, Ptosis, Spasticity, Strabismus, Superior rectus atrophy, Variable expressivity
nEN-early1	NCS1	0.337277658	3.17E-08	Calcium binding protein	BrainSpLMD|23413	OMIM|603315
nEN-early1	HNRNPDL	0.344521143	3.17E-08	Ribonucleoprotein	BrainSpLMD|9987	OMIM|607137;HPO|9987|Adult onset, Autosomal dominant inheritance, Cataract, Decreased movement range in interphalangeal joints, Elevated serum creatine phosphokinase, Flexion limitation of toes, Incomplete penetrance, Limb-girdle muscular dystrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyotrophy, Proximal upper limb amyotrophy, Rimmed vacuoles, Shoulder girdle muscle weakness, Slow progression
nEN-early1	COX4I1	0.366579778	3.44E-08	Enzyme: Oxidoreductase	BrainSpLMD|1327	OMIM|123864
nEN-early1	RNF150	0.57808934	3.67E-08	Ubiquitin proteasome system protein	Eurexp|euxassay_014053|dorsal grey horn, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn, vestibulocochlear VIII	
nEN-early1	HUNK	0.947185758	3.69E-08	Serine/threonine kinase	BrainSpLMD|30811	OMIM|606532
nEN-early1	SETD7	0.763969963	4.04E-08	Enzyme: Methyltransferase	BrainSpLMD|80854;BrainSpMouseDev|49092	OMIM|606594
nEN-early1	SLC38A1	0.472667768	4.37E-08	Membrane transport protein	BrainSpLMD|81539;Eurexp|euxassay_019706|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, stomach, submandibular gland primordium, testis, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|608490
nEN-early1	KIFAP3	0.778039026	4.54E-08	Transport/cargo protein	BrainSpLMD|22920;Eurexp|euxassay_012381|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, mesenchyme, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601836
nEN-early1	CTNNA2	0.745142118	4.57E-08	Cytoskeletal protein	BrainSpLMD|1496;Eurexp|euxassay_011120|anterior, anterior abdominal wall, brain, cervical, cervico-thoracic, dermal component, dermis, dorsal root ganglion, facial VII, facial bones primordia, glossopharyngeal IX, inner ear, left lung, lip, medulla, midgut, molar, neural retina, oesophagus, olfactory, primitive seminiferous tubules, rectum, right lung, spinal cord, stomach, thoracic, thymus primordium, thyroid, tongue, trigeminal V, vagus X, valve, vestibulocochlear VIII, vomeronasal organ	OMIM|114025;COSMIC||gastric cancer
nEN-early1	PTPRK	1.21510259	4.88E-08	Receptor tyrosine phosphatase	BrainSpLMD|5796;Eurexp|euxassay_009627|mantle layer, marginal layer, midgut, stomach, ventral grey horn, vibrissa;BrainSpMouseDev|19035	OMIM|602545;COSMIC||colorectal
nEN-early1	ATP5E	0.606524389	4.98E-08			
nEN-early1	HMGCS1	0.271955073	5.22E-08	Enzyme: Synthase	BrainSpLMD|3157	OMIM|142940
nEN-early1	CD200	0.367480882	5.23E-08	Cell surface receptor;Unclassified	BrainSpLMD|4345;Eurexp|euxassay_010522|anterior, aorta, basisphenoid bone, brain, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, mandible, maxilla, neural retina, orbito-sphenoid, radius, rib, scapula, spinal cord, thoracic, tibia, trigeminal V, turbinate bones, ulna, vagus X, vestibulocochlear VIII, vibrissa	OMIM|155970
nEN-early1	NHLH1	0.744298992	5.34E-08	Transcription factor	BrainSpLMD|4807;Eurexp|euxassay_003709|dorsal root ganglion, glossopharyngeal IX, marginal layer, meninges, neural retina, olfactory, stroma, trigeminal V, ventricular layer;BrainSpMouseDev|17838	OMIM|162360
nEN-early1	KCNH8	0.68209268	5.38E-08	Voltage gated channel	BrainSpLMD|131096	OMIM|608260
nEN-early1	CAMKV	1.002067761	5.95E-08	Unclassified	BrainSpLMD|79012;Eurexp|euxassay_007008|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, phalanx, spinal cord	OMIM|614993
nEN-early1	FOXN2	0.541844393	6.26E-08	DNA binding protein	BrainSpLMD|3344;Eurexp|euxassay_019499|incisor, liver, lung, mandible, mantle layer, marginal layer, maxilla, molar, submandibular gland primordium, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|14013	OMIM|143089
nEN-early1	NDUFA5	0.314769006	6.44E-08	Enzyme: Oxidoreductase	BrainSpLMD|4698	SFARI||Autism, 4 - Minimal evidence;OMIM|601677
nEN-early1	ANP32A	0.567154216	6.48E-08	MHC complex protein	BrainSpLMD|8125;Eurexp|euxassay_005670|embryo	OMIM|600832
nEN-early1	CSRNP3	0.490625597	6.55E-08	Unclassified	BrainSpLMD|80034;Eurexp|euxassay_009789|brain, mantle layer, spinal cord, trigeminal V, ventricular layer	
nEN-early1	SOCS7	0.913863031	6.85E-08	Adapter molecule		OMIM|608788
nEN-early1	BEX2	0.556539758	6.93E-08	Unclassified	BrainSpLMD|84707;Eurexp|euxassay_006276|bladder, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, lumen, mesenchyme, skeletal muscle, thoracic, trigeminal V, vertebral axis muscle system	OMIM|300691
nEN-early1	H3F3AP6	0.482367331	7.00E-08			
nEN-early1	RSF1	0.696074505	7.49E-08	Transcription regulatory protein	BrainSpLMD|51773	OMIM|608522
nEN-early1	LCOR	0.722190136	7.77E-08	Transcription regulatory protein	BrainSpLMD|84458;Eurexp|euxassay_014562|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|84411	OMIM|607698
nEN-early1	LRRC55	0.609617182	7.83E-08	Unclassified	BrainSpLMD|219527	OMIM|615213
nEN-early1	GPI	0.348358168	8.15E-08	Enzyme: Isomerase	BrainSpLMD|2821	OMIM|172400;HPO|2821|Ataxia, Autosomal recessive inheritance, Cholecystitis, Decreased glucosephosphate isomerase activity, Impaired neutrophil bactericidal activity, Intellectual disability, Jaundice, Muscle weakness, Nonspherocytic hemolytic anemia, Pigment gallstones, Sensory ataxia, Splenomegaly, Spontaneous hemolytic crises
nEN-early1	ARHGAP21	0.461350639	8.23E-08	GTPase activating protein	BrainSpLMD|57584;Eurexp|euxassay_007662|dorsal root ganglion, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, ventral grey horn	OMIM|609870
nEN-early1	OLFM1	0.695955102	8.25E-08	Unclassified	BrainSpLMD|10439;Eurexp|euxassay_003026|axial skeleton, cervical, cervico-thoracic, diaphragm, diencephalon, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, hindbrain, incisor, limb, mantle layer, marginal layer, midbrain, molar, neural retina, nucleus pulposus, olfactory, pectoral girdle and thoracic body wall, spinal cord, stroma, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|605366
nEN-early1	GDI1	0.362480977	8.31E-08	GTPase activating protein	BrainSpLMD|2664;Eurexp|euxassay_004022|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|300104;HPO|2664|Generalized hypotonia, Global developmental delay, Intellectual disability, X-linked dominant inheritance, X-linked inheritance
nEN-early1	VANGL2	1.193245775	9.23E-08	Integral membrane protein	Eurexp|euxassay_012321|brain, incisor, molar, spinal cord, vibrissa	OMIM|600533;HPO|57216|Anencephaly, Asymmetry of spinal facet joints, Autosomal dominant inheritance, Hydrocephalus, Multiple lipomas, Myelomeningocele, Primary adrenal insufficiency, Spina bifida occulta, Urinary incontinence
nEN-early1	RP11.817I4.2	0.766760186	9.37E-08			
nEN-early1	CPNE3	0.627979568	9.70E-08	Transport/cargo protein	BrainSpLMD|8895	OMIM|604207
nEN-early1	CHD3	0.633078967	9.84E-08	DNA binding protein	BrainSpLMD|1107	OMIM|602120
nEN-early1	BRD3	0.505236729	1.16E-07	Transcription regulatory protein	BrainSpLMD|8019	OMIM|601541;COSMIC||lethal midline carcinoma of young people
nEN-early1	USP3	0.647340089	1.17E-07	Ubiquitin proteasome system protein	BrainSpLMD|9960	OMIM|604728
nEN-early1	ZFPM2.AS1	1.4802358	1.20E-07			
nEN-early1	KCNMB4	0.844107721	1.23E-07	Transport/cargo protein	BrainSpLMD|27345;Eurexp|euxassay_008263|anterior, dorsal root ganglion, external, facial VII, glossopharyngeal IX, incisor, mantle layer, molar, phalanx, tarsus, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|37365	OMIM|605223
nEN-early1	CSNK1E	0.258252079	1.25E-07	Serine/threonine kinase	BrainSpLMD|1454;Eurexp|euxassay_018818|brain, cervical, cervico-thoracic, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|27118	OMIM|600863
nEN-early1	TMEM57	0.345469426	1.26E-07			
nEN-early1	CECR2	0.663565292	1.38E-07	Unclassified	BrainSpLMD|27443;Eurexp|euxassay_016232|olfactory	SFARI||Autism, No category;OMIM|607576
nEN-early1	DYNLL1	0.478883381	1.40E-07	Motor protein	BrainSpLMD|8655	OMIM|601562
nEN-early1	KCND3	1.343930236	1.43E-07	Voltage gated channel	BrainSpLMD|3752	OMIM|605411;HPO|3752|Autosomal dominant inheritance, Cerebellar atrophy, Dysarthria, Dysphagia, Gait ataxia, Gaze-evoked horizontal nystagmus, Hyporeflexia, Intermittent microsaccadic pursuits, Limb ataxia, Myoclonus, Palpitations, Postural tremor, Progressive cerebellar ataxia, Slow progression, Truncal ataxia
nEN-early1	SCG3	0.44024842	1.48E-07	Secreted polypeptide	BrainSpLMD|29106;Eurexp|euxassay_015685|adrenal gland, autonomic, basal columns, bladder, brain, central nervous system, cerebellum, cerebral cortex, cervical, cervico-thoracic, cranial, diencephalon, dorsal root ganglion, facial VII, forebrain, ganglion, glossopharyngeal IX, gut, heart, hindbrain, intraventricular portion, lateral wall, left lung, lung, mantle layer, marginal layer, maxillary division, medulla, metanephros, midbrain, nerve plexus, neural retina, renal/urinary system, retina, spinal, spinal cord, stomach, sympathetic, telencephalon, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20018	OMIM|611796
nEN-early1	KBTBD11	0.995598144	1.65E-07	Unclassified	BrainSpLMD|9920;Eurexp|euxassay_008912|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
nEN-early1	NBEA	0.322155808	1.66E-07	Anchor protein	BrainSpLMD|26960	SFARI||Autism, 4 - Minimal evidence;OMIM|604889;COSMIC||large intestine carcinoma, multiple myeloma
nEN-early1	NRG1.IT1	1.284240505	1.68E-07			
nEN-early1	PHF20L1	0.508516498	1.69E-07	Unclassified	BrainSpLMD|51105	
nEN-early1	ID2	0.646071474	1.69E-07	Transcription regulatory protein	BrainSpLMD|3398;BrainSpMouseDev|15675	OMIM|600386
nEN-early1	SERINC2	0.937772386	1.71E-07	Integral membrane protein	BrainSpLMD|347735	OMIM|614549
nEN-early1	NFASC	0.707218322	1.75E-07	Adhesion molecule	BrainSpLMD|23114;Eurexp|euxassay_009740|brain, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|92672	OMIM|609145
nEN-early1	DDX5	0.409687393	1.77E-07	RNA binding protein	BrainSpLMD|1655;BrainSpMouseDev|12987	OMIM|180630;COSMIC||prostate
nEN-early1	JUP	0.643032483	1.88E-07	Adhesion molecule	BrainSpLMD|3728;Eurexp|euxassay_013744|bladder, dorsal root ganglion, epidermis, epithelium, facial VII, glossopharyngeal IX, incisor, larynx, midgut, molar, neural retina, olfactory, oral epithelium, pharyngo-tympanic tube, rectum, stomach, submandibular gland primordium, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|173325;HPO|3728|Acantholysis, Alopecia, Anonychia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cardiomegaly, Cardiomyopathy, Cleft upper lip, Congestive heart failure, Curly hair, Dilated cardiomyopathy, Epidermal acanthosis, Episodes of ventricular tachycardia, Fragile skin, Heterogeneous, Hyperhidrosis, Nail dystrophy, Onycholysis, Oral mucosal blisters, Palmoplantar keratoderma, Right ventricular cardiomyopathy, Skin erosion, Sparse and thin eyebrow, Sparse scalp hair, Sudden death, Syncope, Ventricular arrhythmia, Ventricular tachycardia, Vertigo, Woolly hair
nEN-early1	BICD1	0.694140958	1.98E-07	Transport/cargo protein	BrainSpLMD|636;Eurexp|euxassay_001764|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|11907	OMIM|602204
nEN-early1	KIAA0232	0.560085082	2.02E-07	Unclassified	BrainSpLMD|9778	
nEN-early1	KIAA1324	0.465526866	2.06E-07	Unclassified	BrainSpLMD|57535	OMIM|611298
nEN-early1	PTMA	0.261194168	2.12E-07	Unclassified	BrainSpLMD|5757	OMIM|188390
nEN-early1	MYT1	1.229046108	2.30E-07	Transcription factor	BrainSpLMD|4661;Eurexp|euxassay_005418|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, nerve, neural retina, olfactory, respiratory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|17699	OMIM|600379
nEN-early1	MYCN	1.119199294	2.33E-07	Transcription factor	BrainSpLMD|4613;Eurexp|euxassay_018746|hindgut, incisor, lung, mantle layer, marginal layer, metanephros, midgut, molar, neural retina, stomach, trigeminal V, urethra, ventricular layer, vibrissa;BrainSpMouseDev|17876	OMIM|164840;COSMIC||neuroblastoma;HPO|4613|Accessory spleen, Annular pancreas, Anteverted nares, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Asplenia, Autosomal dominant inheritance, Blepharophimosis, Decreased fetal movement, Depressed nasal tip, Duodenal atresia, Elevated urinary catecholamines, Epicanthus, Esophageal atresia, Everted lower lip vermilion, Facial asymmetry, Hearing impairment, High palate, Intellectual disability, Low-set ears, Microcephaly, Micrognathia, Neoplasm of the nervous system, Patent ductus arteriosus, Polyhydramnios, Polysplenia, Posteriorly rotated ears, Prominent occiput, Short palpebral fissure, Short toe, Small anterior fontanelle, Specific learning disability, Thick vermilion border, Tracheoesophageal fistula, Triangular face, Upslanted palpebral fissure, Vocal cord paralysis, Wide nasal bridge
nEN-early1	DNAJB5	0.854040478	2.42E-07	Heat shock protein	BrainSpLMD|25822;Eurexp|euxassay_014885|accessory XI, alar plate, basal plate, brachial plexus, brain, central nervous system, cerebellum, cerebral cortex, cervico-thoracic, cranial, diencephalon, dorsal root ganglion, facial VII, forebrain, ganglion, glossopharyngeal IX, heart, hindbrain, hypogastric plexus, hypoglossal XII, hypothalamus, inferior, intrinsic, lateral wall, lumbo-sacral plexus, lung, marginal layer, maxillary division, metanephros, midbrain, nerve, nerve plexus, nerve trunk, neural retina, olfactory, parasympathetic, pectoral girdle and thoracic body wall, pelvic girdle, rest of alar plate, retina, skeletal muscle, spinal cord, telencephalon, thalamus, tongue, trigeminal V, vagal X nerve trunk, vagus X, vestibulocochlear VIII, vibrissa	OMIM|611328
nEN-early1	MDH2	0.467700041	2.66E-07	Enzyme: Dehydrogenase	BrainSpLMD|4191;BrainSpMouseDev|17216	OMIM|154100;HPO|4191|Absent speech, Autosomal recessive inheritance, Cerebellar atrophy, Constipation, Delayed myelination, Epileptic encephalopathy, Failure to thrive, Feeding difficulties, Global developmental delay, Hypoplasia of the corpus callosum, Inability to walk, Increased CSF lactate, Increased serum lactate, Poor head control, Seizures, Skeletal muscle atrophy, Strabismus
nEN-early1	STK17B	1.293252982	2.66E-07	Serine/threonine kinase	BrainSpLMD|9262	OMIM|604727
nEN-early1	RBFOX1	0.357498848	2.78E-07		BrainSpLMD|54715;Eurexp|euxassay_013824|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, thoracic, trigeminal V	SFARI||Autism, 3 - Suggestive evidence;OMIM|605104
nEN-early1	GABARAP	0.463139013	2.79E-07	Unclassified	BrainSpLMD|11337	OMIM|605125
nEN-early1	SNAP25	0.544541328	2.89E-07	Membrane transport protein	BrainSpLMD|6616;Eurexp|euxassay_015720|cervical, cervico-thoracic, dorsal root ganglion, extrinsic ocular muscle, facial VII, forebrain, glossopharyngeal IX, hindbrain, lip, midbrain, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|600322;HPO|6616|Areflexia, Ataxia, Autosomal dominant inheritance, Congenital onset, Decreased fetal movement, Difficulty walking, Dysarthria, Easy fatigability, Flexion contracture, Global developmental delay, Muscle weakness, Poor speech, Ptosis, Respiratory insufficiency
nEN-early1	NFIX	0.885528548	3.04E-07	Transcription factor	BrainSpLMD|4784;BrainSpMouseDev|17799	SFARI||Autism, No category;OMIM|164005;HPO|4784|Accelerated skeletal maturation, Advanced eruption of teeth, Agenesis of corpus callosum, Anteverted nares, Anxiety, Astigmatism, Atlantoaxial dislocation, Atrial septal defect, Autosomal dominant inheritance, Blue sclerae, Bullet-shaped middle phalanges of the hand, Cerebral atrophy, Choanal atresia, Choanal stenosis, Coxa valga, Cutis marmorata, Death in childhood, Decreased body weight, Delayed speech and language development, Depressed nasal bridge, Distal widening of metacarpals, Downslanted palpebral fissures, Eclabion, Everted lower lip vermilion, Failure to thrive, Frontal bossing, Generalized hypotonia, Gingival overgrowth, Glossoptosis, Hearing impairment, High forehead, Hypermetropia, Hypoplasia of the odontoid process, Intellectual disability, Irregular dentition, Large sternal ossification centers, Laryngomalacia, Long face, Long fingers, Low-set ears, Macrocephaly, Macrogyria, Malar flattening, Mandibular prognathia, Midface retrusion, Motor delay, Narrow face, Narrow mouth, Nystagmus, Obstructive sleep apnea, Omphalocele, Overfolded helix, Overgrowth, Patent ductus arteriosus, Pectus excavatum, Prominence of the premaxilla, Prominent forehead, Pulmonary arterial hypertension, Recurrent aspiration pneumonia, Retrognathia, Scoliosis, Shallow orbits, Short distal phalanx of finger, Short mandibular rami, Short nose, Short philtrum, Short sternum, Slender long bone, Sporadic, Strabismus, Synophrys, Tall stature, Thick eyebrow, Umbilical hernia, Ventriculomegaly
nEN-early1	MT.TQ	0.804668801	3.09E-07			
nEN-early1	DPY19L1	1.048490899	3.31E-07	Unclassified		OMIM|613892
nEN-early1	STRBP	0.25843882	3.87E-07	RNA binding protein	BrainSpLMD|55342;Eurexp|euxassay_012970|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|611138
nEN-early1	NDST3	0.879670994	4.00E-07	Enzyme: Deacetylase	BrainSpLMD|9348;Eurexp|euxassay_009403|mantle layer	OMIM|603950
nEN-early1	D4S234E	0.26681935	4.25E-07			
nEN-early1	TNRC6A	0.253222258	4.51E-07	Transcription regulatory protein	BrainSpLMD|27327	OMIM|610739
nEN-early1	ADAMTS5	0.692333939	4.63E-07	Metallo protease	BrainSpLMD|11096	OMIM|605007
nEN-early1	NTRK3	0.454588588	4.88E-07	Receptor tyrosine kinase	BrainSpLMD|4916;Eurexp|euxassay_017897|corpus striatum, dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|17980	SFARI||Autism, 4 - Minimal evidence;OMIM|191316;COSMIC||congenital fibrosarcoma, secretory breast
nEN-early1	SLC44A5	1.350850382	5.05E-07	Transport/cargo protein	BrainSpLMD|204962;Eurexp|euxassay_019725|floor plate, floorplate, glossopharyngeal IX, lip, mantle layer, marginal layer, trachea, ventral grey horn, ventricular layer	
nEN-early1	R3HDM2	0.266032963	5.34E-07	Unclassified	BrainSpLMD|22864;Eurexp|euxassay_000306|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X	
nEN-early1	POU2F2	0.608011745	5.45E-07	Transcription factor	BrainSpLMD|5452;Eurexp|euxassay_019622|mantle layer;BrainSpMouseDev|18750	OMIM|164176
nEN-early1	TALDO1	0.36134179	5.62E-07	Enzyme: Transaldolase	BrainSpLMD|6888	OMIM|602063;HPO|6888|Abnormal facial shape, Abnormality of glutamine metabolism, Abnormality of the clitoris, Abnormality of the kidney, Anemia, Asthma, Autosomal recessive inheritance, Cirrhosis, Clitoral hypertrophy, Coarctation of aorta, Decreased liver function, Deep philtrum, Depressed nasal bridge, Failure to thrive, Hepatic fibrosis, Hepatomegaly, Hepatosplenomegaly, Hydrops fetalis, Increased serum bile acid concentration, Intrauterine growth retardation, Low-set ears, Micronodular cirrhosis, Oligohydramnios, Pancytopenia, Patent ductus arteriosus, Patent foramen ovale, Poor suck, Premature skin wrinkling, Short philtrum, Small for gestational age, Splenomegaly, Synophrys, Telangiectasia, Thin vermilion border, Thrombocytopenia, Triangular face, Ventricular septal defect, Wide anterior fontanel, Wide mouth
nEN-early1	ANKRD28	0.491321934	5.70E-07	Unclassified	BrainSpLMD|23243	OMIM|611122
nEN-early1	LBH	0.778535179	5.77E-07	Transcription regulatory protein	BrainSpLMD|81606;BrainSpMouseDev|53729	OMIM|611763
nEN-early1	IDH1	0.909186608	6.14E-07	Enzyme: Dehydrogenase	BrainSpLMD|3417;Eurexp|euxassay_018329|adrenal gland, brain, cervical, cervico-thoracic, clavicle, dorsal root ganglion, glossopharyngeal IX, neural retina, rib, spinal cord, stroma, testis, thoracic, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	OMIM|147700;COSMIC||glioblastoma;HPO|3417|Abnormality of the metaphysis, Bone pain, Exostoses, Hemangiomatosis, Joint stiffness, Micromelia, Multiple enchondromatosis, Osteolysis, Scoliosis, Short stature, Subcutaneous nodule, Venous thrombosis, Visceral angiomatosis
nEN-early1	RCOR2	0.464459042	6.21E-07	DNA binding protein	BrainSpLMD|283248;Eurexp|euxassay_009808|clavicle, mandible, mantle layer, maxilla, olfactory, orbito-sphenoid, rib;BrainSpMouseDev|68548	OMIM|616019
nEN-early1	RP11.444D3.1	0.881995049	6.32E-07			
nEN-early1	RPS26	0.519250832	6.45E-07	Ribosomal subunit	Eurexp|euxassay_007095|embryo	OMIM|603701;HPO|6231|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Infantile onset, Macrocytic anemia, Migraine, Pallor, Reticulocytopenia
nEN-early1	C1orf115	1.286270466	6.74E-07	Unclassified	BrainSpLMD|79762	
nEN-early1	ACMSD	1.246313194	7.75E-07	Enzyme: Decarboxylase	BrainSpLMD|130013	OMIM|608889
nEN-early1	CAMK4	0.470701039	7.76E-07	Serine/threonine kinase	BrainSpLMD|814;BrainSpMouseDev|12111	SFARI||Autism, 4 - Minimal evidence;OMIM|114080
nEN-early1	GAPDHP1	0.455806668	7.80E-07			
nEN-early1	RUFY3	0.348819976	7.83E-07	Unclassified	BrainSpLMD|22902	OMIM|611194
nEN-early1	FMNL2	0.268346521	8.72E-07	Unclassified	BrainSpLMD|114793	OMIM|616285
nEN-early1	SLC4A10	1.234312368	8.74E-07	Membrane transport protein	BrainSpLMD|57282;Eurexp|euxassay_019732|choroid plexus, olfactory lobe	SFARI||Autism, 4 - Minimal evidence;OMIM|605556
nEN-early1	ATP6V1A	0.726463384	8.92E-07	Transport/cargo protein	BrainSpLMD|523;Eurexp|euxassay_004518|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|607027;HPO|523|Abnormal apolipoprotein level, Abnormal isoelectric focusing of serum transferrin, Abnormal subcutaneous fat tissue distribution, Broad nasal tip, Carious teeth, Cerebellar hypoplasia, Coarse hair, Congenital hip dislocation, Dandy-Walker malformation, Decreased muscle mass, Delayed closure of the anterior fontanelle, Delayed speech and language development, Dementia, Downslanted palpebral fissures, Excessive wrinkled skin, Failure to thrive, Feeding difficulties, Fragmented elastic fibers in the dermis, Generalized joint laxity, Global developmental delay, High palate, Hypertelorism, Infantile muscular hypotonia, Inguinal hernia, Intellectual disability, profound, Intrauterine growth retardation, Lipodystrophy, Lissencephaly, Long philtrum, Low-set ears, Malar flattening, Motor delay, Pachygyria, Polymicrogyria, Poor speech, Postnatal growth retardation, Progressive microcephaly, Prominent nasolabial fold, Prominent veins on trunk, Psychomotor deterioration, Redundant neck skin, Seizures, Severe Myopia, Short nose, Short stature, Smooth philtrum, Sparse hair, Spasticity, Strabismus, Subretinal pigment epithelium hemorrhage, Thick cerebral cortex, Thick hair
nEN-early1	SNRPB2	0.552975201	8.94E-07	Ribonucleoprotein	BrainSpLMD|6629;Eurexp|euxassay_003430|submandibular gland primordium, vibrissa	OMIM|603520
nEN-early1	ANKRD13B	0.604019034	9.03E-07	Unclassified	BrainSpLMD|124930	OMIM|615124
nEN-early1	C11orf95	0.872074183	9.38E-07			OMIM|615699
nEN-early1	WARS	1.112206859	9.46E-07	Enzyme: Ligase	BrainSpLMD|7453	OMIM|191050
nEN-early1	PLBD2	1.185034047	9.46E-07	Unclassified	BrainSpLMD|196463	
nEN-early1	NAB1	0.770141463	9.58E-07	Transcription regulatory protein	BrainSpLMD|4664;Eurexp|euxassay_019676|bladder;BrainSpMouseDev|17703	OMIM|600800
nEN-early1	NIPSNAP1	0.791960272	1.11E-06	Unclassified	BrainSpLMD|8508;Eurexp|euxassay_005226|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, liver, lung, metanephros, midgut, molar, spinal cord, stomach, submandibular gland primordium, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|603249
nEN-early1	SFXN3	0.356267523	1.11E-06	Integral membrane protein	BrainSpLMD|81855	OMIM|615571
nEN-early1	NAB2	1.53877359	1.15E-06	Transcription regulatory protein	BrainSpLMD|4665	OMIM|602381;COSMIC||solitary fibrous tumour, meningeal haemangiopericytoma
nEN-early1	ACTB	0.424708952	1.16E-06	Cytoskeletal protein	BrainSpLMD|60;BrainSpMouseDev|11250	OMIM|102630;HPO|60|Abnormality of metabolism/homeostasis, Achalasia, Agenesis of corpus callosum, Anteverted nares, Aortic valve stenosis, Aphasia, Autosomal dominant inheritance, Autosomal recessive inheritance, Bicuspid aortic valve, Blindness, Cataract, Cerebral cortical hemiatrophy, Chorioretinal coloboma, Cleft palate, Cleft upper lip, Coarse facial features, Cryptorchidism, Death in early adulthood, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Dysphagia, Dysphasia, Echolalia, Epicanthus, Euryblepharon, Externally rotated hips, Failure to thrive, Feeding difficulties, Full cheeks, Generalized dystonia, Generalized hypotonia, Global developmental delay, Growth delay, Heterochromia iridis, High forehead, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplastic scapulae, Immunodeficiency, Intellectual disability, Intellectual disability, mild, Iris coloboma, Joint stiffness, Kyphoscoliosis, Kyphosis, Large fontanelles, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Macroglossia, Macrogyria, Mental deterioration, Microcephaly, Micrognathia, Micromelia, Micropenis, Mild global developmental delay, Mutism, Oral cleft, Osteochondrosis, Overfolded helix, Pachygyria, Patent ductus arteriosus, Pointed chin, Polymicrogyria, Postnatal growth retardation, Prominent epicanthal folds, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Scoliosis, Seizures, Sensorineural hearing impairment, Short columella, Short neck, Short nose, Short stature, Skeletal dysplasia, Small for gestational age, Specific learning disability, Subcortical cerebral atrophy, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Trigonocephaly, Wide mouth, Wide nasal bridge, Wide nose
nEN-early1	RAN	0.338181167	1.16E-06	GTPase	BrainSpLMD|5901	OMIM|601179
nEN-early1	AC016716.2	0.548789868	1.28E-06			
nEN-early1	MRPL42	0.49767912	1.29E-06	Ribosomal subunit	BrainSpLMD|28977	OMIM|611847
nEN-early1	NDUFS5	0.392750207	1.38E-06	Enzyme: Oxidoreductase	BrainSpLMD|4725	OMIM|603847
nEN-early1	BHLHE22	0.452991352	1.42E-06	Unclassified	BrainSpLMD|27319;BrainSpMouseDev|37621	OMIM|613483
nEN-early1	DHCR24	1.054303847	1.43E-06	Enzyme: Reductase	BrainSpLMD|1718;Eurexp|euxassay_011628|adrenal gland, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lobe, lung, mantle layer, marginal layer, midgut, molar, neural retina, olfactory, pharyngo-tympanic tube, rectum, respiratory, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ	OMIM|606418;HPO|1718|Absent septum pellucidum, Agenesis of corpus callosum, Anteverted nares, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Bifid uvula, Depressed nasal bridge, Failure to thrive, Feeding difficulties, Hydrocephalus, Intellectual disability, Intrauterine growth retardation, Large earlobe, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscle stiffness, Narrow mouth, Nystagmus, Partial agenesis of the corpus callosum, Phenotypic variability, Relative macrocephaly, Retrognathia, Rigidity, Seizures, Severe short stature, Short nose, Spasticity, Status epilepticus, Strabismus, Submucous cleft hard palate, Ventriculomegaly
nEN-early1	ZNF281	0.376672714	1.43E-06	Transcription regulatory protein	BrainSpLMD|23528;Eurexp|euxassay_007265|fundus region, lung, urethra, vertebral axis muscle system	
nEN-early1	COX5B	0.489736115	1.46E-06	Enzyme: Oxidoreductase	BrainSpLMD|1329;Eurexp|euxassay_005933|embryo	OMIM|123866
nEN-early1	KDM6B	0.462459939	1.49E-06	Unclassified	BrainSpLMD|23135	SFARI||Autism, 3 - Suggestive evidence;OMIM|611577
nEN-early1	MRPS6	0.327561581	1.52E-06	Ribosomal subunit	BrainSpLMD|64968;Eurexp|euxassay_000228|choroid plexus, metencephalon, telencephalon	OMIM|611973
nEN-early1	PHF12	0.395705568	1.65E-06	Transcription regulatory protein	BrainSpLMD|57649	
nEN-early1	KIAA1586	0.54619514	1.74E-06	Unclassified	BrainSpLMD|57691	SFARI||Autism, 3 - Suggestive evidence
nEN-early1	FGFBP3	0.656015725	1.77E-06	Unclassified	BrainSpLMD|143282;Eurexp|euxassay_000173|basal columns, basal plate, corpus striatum, floor plate, floorplate, mantle layer, metencephalon, spinal cord, ventral grey horn, ventricular layer	SFARI||Autism, 5 - Hypothesized but untested
nEN-early1	TXNL4A	1.143725835	1.91E-06	Unclassified	BrainSpLMD|10907;Eurexp|euxassay_012641|cortex, incisor, lobe, molar, submandibular gland primordium, thymus primordium, trigeminal V, ventricular layer	OMIM|611595;HPO|10907|2-3 toe syndactyly, Abnormality of metabolism/homeostasis, Abnormality of the cardiac septa, Atrial septal defect, Autosomal recessive inheritance, Bifid uvula, Bilateral choanal atresia, Bilateral choanal atresia/stenosis, Blepharophimosis, Choanal atresia, Cleft palate, Cleft upper lip, Conductive hearing impairment, Feeding difficulties in infancy, Hypertelorism, Hypomimic face, Lower eyelid coloboma, Mandibular prognathia, Micrognathia, Narrow mouth, Preauricular skin tag, Prominent nasal bridge, Protruding ear, Renal hypoplasia, Short palpebral fissure, Short philtrum, Thin vermilion border, Underdeveloped nasal alae, Ventricular septal defect
nEN-early1	STAM	0.959435498	1.92E-06	Adapter molecule	BrainSpLMD|8027	OMIM|601899
nEN-early1	KAZN	0.759039468	1.94E-06	Unclassified	BrainSpLMD|23254	
nEN-early1	NDUFB11	0.828957819	1.95E-06	Enzyme: Oxidoreductase	BrainSpLMD|54539	OMIM|300403;HPO|54539|Abnormal facial shape, Abnormality of retinal pigmentation, Abnormality of the cardiac septa, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Agenesis of corpus callosum, Anophthalmia, Arrhythmia, Cardiac arrest, Congenital diaphragmatic hernia, Dermal atrophy, Dilated cardiomyopathy, Dilation of lateral ventricles, Erythema, Failure to thrive, Hyperpigmentation of the skin, Hypertrophic cardiomyopathy, Hypopigmented skin patches, Lacrimal duct atresia, Mandibular aplasia, Micrognathia, Microphthalmia, Midface retrusion, Muscular hypotonia of the trunk, Myopia, Nystagmus, Retrognathia, Sclerocornea, Seizures, Severe short stature, Strabismus, Ventricular fibrillation, Ventricular tachycardia, Vitritis, Wide nasal bridge, Wide nose, X-linked dominant inheritance
nEN-early1	AACS	0.901354165	1.97E-06	Enzyme: Ligase	BrainSpLMD|65985;Eurexp|euxassay_005036|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, stroma, thymus primordium, trigeminal V, vagus X	OMIM|614364
nEN-early1	RNFT2	0.712539721	2.04E-06	Unclassified	BrainSpLMD|84900	
nEN-early1	COX7C	0.297284039	2.05E-06	Regulatory/other subunit		OMIM|603774
nEN-early1	AKAP13	0.609846171	2.13E-06	Guanine nucleotide exchange factor	BrainSpLMD|11214	OMIM|604686
nEN-early1	PRDX1	0.441749829	2.20E-06	Enzyme: Peroxidase	BrainSpLMD|5052	OMIM|176763
nEN-early1	MSRA	0.495884961	2.25E-06	Enzyme: Reductase	BrainSpLMD|4482	OMIM|601250
nEN-early1	RICTOR	0.351920712	2.26E-06	Unclassified	BrainSpLMD|253260	OMIM|609022
nEN-early1	MTND4P12	0.717966871	2.27E-06			
nEN-early1	TBC1D24	0.294451488	2.37E-06	Unclassified	BrainSpLMD|57465;Eurexp|euxassay_010949|brain, dorsal root ganglion, facial VII, liver, mesenchyme, neural retina, olfactory, retina, spinal cord, vestibulocochlear VIII	OMIM|613577;HPO|57465|Aggressive behavior, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Developmental regression, EEG with irregular generalized spike and wave complexes, Generalized myoclonic seizures, Global developmental delay, Hearing impairment, Intellectual disability, mild, Irritability, Mental deterioration, Myoclonus, Progressive hearing impairment, Slow progression
nEN-early1	CELF3	0.633180719	2.50E-06	RNA binding protein	BrainSpLMD|11189;Eurexp|euxassay_009785|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, midgut, neural retina, oesophagus, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|612678
nEN-early1	ACVR2A	0.30647128	2.62E-06	Receptor serine/threonine kinase	BrainSpLMD|92;BrainSpMouseDev|11268	OMIM|102581;COSMIC||large intestine carcinoma, stomach carcinoma, pancreatic carcinoma, biliary tract, oesophagus
nEN-early1	MLLT4	0.560599682	2.64E-06			
nEN-early1	C9orf16	0.946922724	2.66E-06	Unclassified	BrainSpLMD|79095;Eurexp|euxassay_000206|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn	
nEN-early1	NCBP2	0.575597485	2.69E-06	RNA binding protein	BrainSpLMD|22916;Eurexp|euxassay_008123|embryo	OMIM|605133
nEN-early1	KIF5B	0.572902698	2.71E-06	Motor protein	BrainSpLMD|3799;Eurexp|euxassay_019750|olfactory	OMIM|602809;COSMIC||NSCLC, Spitzoid tumour
nEN-early1	SEC63	0.662171089	2.71E-06	Transport/cargo protein	BrainSpLMD|11231	OMIM|608648;HPO|11231|Abdominal distention, Abnormality of the cardiovascular system, Abnormality of the nervous system, Adult onset, Ascites, Autosomal dominant inheritance, Back pain, Hepatic cysts, Hepatomegaly, Increased total bilirubin, Multiple renal cysts, Polycystic liver disease, Renal cyst
nEN-early1	LDHA	0.505038738	2.74E-06	Enzyme: Dehydrogenase	BrainSpLMD|3939	OMIM|150000;HPO|3939|Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise intolerance, Increased serum lactate, Increased serum pyruvate, Juvenile onset, Muscle cramps, Muscle stiffness, Myalgia, Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Rigidity
nEN-early1	TMEM59	0.693993103	2.76E-06	Unclassified	BrainSpLMD|9528;Eurexp|euxassay_008205|alveolar sulcus, axial skeleton, basal columns, clavicle, femur, floor plate, floorplate, mandible, mantle layer, maxilla, olfactory, orbito-sphenoid, pituitary, rib, stomach	OMIM|617084
nEN-early1	ATAT1	0.457756026	2.77E-06	Unclassified	BrainSpLMD|79969;Eurexp|euxassay_009892|brain, neural retina, spinal cord	OMIM|615556
nEN-early1	ARL3	0.553481199	2.79E-06	GTPase	BrainSpLMD|403	OMIM|604695
nEN-early1	TAGLN3	0.392081955	2.82E-06	Cytoskeletal associated protein;Unclassified	BrainSpLMD|29114;Eurexp|euxassay_000750|dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, inferior, neural retina, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607953
nEN-early1	KLHL23	0.359395879	2.88E-06	Cytoskeletal associated protein	BrainSpLMD|151230;Eurexp|euxassay_008410|embryo	
nEN-early1	PCLO	0.421463129	2.94E-06	Cytoskeletal protein	BrainSpLMD|27445;Eurexp|euxassay_009714|brain, cervical, cervico-thoracic, olfactory, spinal cord, thoracic;BrainSpMouseDev|26621	OMIM|604918;HPO|27445|Autosomal recessive inheritance, Brachycephaly, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy, Congenital onset, Decreased body weight, Depressed nasal bridge, Downturned corners of mouth, Full cheeks, Global developmental delay, Hearing impairment, High palate, High, narrow palate, Hyperreflexia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Long palpebral fissure, Long philtrum, Low-set ears, Macrotia, Muscular hypotonia of the trunk, Neonatal hypotonia, Optic atrophy, Poor head control, Progressive, Progressive microcephaly, Proptosis, Seizures, Short stature, Spasticity
nEN-early1	ZMYM2	0.800171582	3.05E-06	Unclassified;Transcription regulatory protein	BrainSpLMD|7750	OMIM|602221;COSMIC||MPN, NHL
nEN-early1	SHB	1.858282388	3.22E-06	Adapter molecule	BrainSpLMD|6461;Eurexp|euxassay_009465|mantle layer, marginal layer, molar, neural retina, olfactory	OMIM|600314
nEN-early1	SLC4A7	0.267481277	3.32E-06	Transport/cargo protein	BrainSpLMD|9497	OMIM|603353
nEN-early1	ABCD2	1.087082578	3.37E-06	Transport/cargo protein	BrainSpLMD|225;Eurexp|euxassay_003076|marginal layer, olfactory, tongue, ventricular layer	OMIM|601081
nEN-early1	MMD	1.080725528	3.58E-06	Integral membrane protein	BrainSpLMD|23531;Eurexp|euxassay_002968|Meckel's cartilage, axial skeleton, bladder, dorsal root ganglion, facial VII, foregut-midgut junction, glossopharyngeal IX, head mesenchyme, hindgut, incisor, limb, midgut, molar, nasal capsule, neural retina, oesophagus, olfactory, pectoral girdle and thoracic body wall, rectum, retina, rib, stomach, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|604467
nEN-early1	FRMD3	1.039649981	3.59E-06	Structural protein	BrainSpLMD|257019	OMIM|607619
nEN-early1	EBP	0.511986776	3.72E-06	Enzyme: Isomerase	BrainSpLMD|10682;Eurexp|euxassay_010690|lobe, mandible, maxilla, orbito-sphenoid	OMIM|300205;HPO|10682|2-3 toe syndactyly, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the pinna, Abnormality of the thorax, Alopecia, Aortic valve stenosis, Bilateral talipes equinovarus, Cataract, Concave nasal ridge, Congenital ichthyosiform erythroderma, Congenital onset, Cryptorchidism, Dandy-Walker malformation, Downslanted palpebral fissures, Edema, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol, Epicanthus, Epiphyseal stippling, Erythema, Erythroderma, Failure to thrive, Flat face, Frontal bossing, Generalized hypotonia, Glaucoma, Global developmental delay, Hearing impairment, Hemiatrophy, Hemivertebrae, High palate, Hydrocephalus, Hydronephrosis, Hyperactivity, Ichthyosis, Intellectual disability, Intellectual disability, moderate, Joint dislocation, Kyphosis, Long fingers, Low-set ears, Malar flattening, Microphthalmia, Microretrognathia, Midface retrusion, Nystagmus, Optic atrophy, Overlapping fingers, Overlapping toe, Patellar dislocation, Phenotypic variability, Polydactyly, Polyhydramnios, Postnatal growth retardation, Prominent nasal bridge, Ptosis, Punctate vertebral calcifications, Scarring alopecia of scalp, Scoliosis, Seizures, Short neck, Short stature, Sparse and thin eyebrow, Sparse eyelashes, Stippled calcification in carpal bones, Tarsal stippling, Tracheal calcification, Tracheal stenosis, Variable expressivity, X-linked dominant inheritance, X-linked recessive inheritance
nEN-early1	FAM115A	0.503321217	3.79E-06			
nEN-early1	NAV1	0.423862775	3.94E-06	Unclassified	BrainSpLMD|89796;Eurexp|euxassay_015115|Meckel's cartilage, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, inferior, mantle layer, midbrain, molar, neural retina, olfactory, respiratory, spinal cord, stroma, superior, thoracic, trigeminal V, turbinate bones, vagus X, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|611628
nEN-early1	ATP6V1G1	0.349559967	4.03E-06	Transport/cargo protein	BrainSpLMD|9550;Eurexp|euxassay_006208|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, stroma, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|607296
nEN-early1	STXBP1	0.512945056	4.04E-06	Transport/cargo protein	BrainSpLMD|6812	SFARI||Autism, 3 - Suggestive evidence;OMIM|602926;HPO|6812|Absent speech, Ataxia, Autosomal dominant inheritance, Cerebral atrophy, Cerebral hypomyelination, Cutaneous photosensitivity, Developmental regression, EEG abnormality, EEG with burst suppression, Epileptic encephalopathy, Epileptic spasms, Febrile seizures, Focal clonic seizures, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic seizures, Generalized tonic-clonic seizures, Hypoplasia of the corpus callosum, Hypsarrhythmia, Impaired horizontal smooth pursuit, Infantile encephalopathy, Intellectual disability, severe, Muscular hypotonia, Neonatal onset, Neurodevelopmental delay, Obtundation status, Pschomotor retardation, Severe global developmental delay, Spastic paraplegia, Spastic tetraplegia, Status epilepticus, Tremor, Variable expressivity
nEN-early1	HMGA1	0.396873943	4.11E-06	DNA binding protein	BrainSpLMD|3159;Eurexp|euxassay_003457|bladder, cortex, epidermis, glomeruli, head mesenchyme, hindgut, incisor, left lung, lobe, marginal layer, midgut, neural retina, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, pituitary, rectum, respiratory, right lung, spleen primordium, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|15136	OMIM|600701;COSMIC||microfollicular thyroid adenoma, various benign mesenchymal tumours
nEN-early1	RUNDC3A	0.550362769	4.31E-06	GTPase activating protein	BrainSpLMD|10900;Eurexp|euxassay_011504|brain, cervical, cervico-thoracic, facial VII, glossopharyngeal IX, medulla, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|605448
nEN-early1	PWAR6	0.343013716	4.68E-06			
nEN-early1	SMARCE1	0.411204809	4.75E-06	DNA binding protein	BrainSpLMD|6605;BrainSpMouseDev|36650	OMIM|603111;COSMIC||meningioma;HPO|6605|Abnormality of cardiovascular system morphology, Abnormality of the dentition, Absent speech, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Arachnodactyly, Atrial septal defect, Autosomal dominant inheritance, Cerebellar hypoplasia, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Dystrophic toenail, Elbow dislocation, Feeding difficulties, Feeding difficulties in infancy, Generalized hirsutism, Global developmental delay, Hearing impairment, Hypoplasia of the corpus callosum, Hypoplastic fifth fingernail, Hypoplastic toenails, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Low anterior hairline, Microcephaly, Muscular hypotonia, Nystagmus, Ptosis, Recurrent infections, Recurrent respiratory infections, Sandal gap, Scoliosis, Seizures, Short distal phalanx of finger, Short philtrum, Short stature, Slow-growing hair, Sparse scalp hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick nasal alae, Thin upper lip vermilion, Wide mouth, Wide nasal bridge, Wide nose
nEN-early1	CEP85L	0.748238851	4.78E-06	Unclassified	BrainSpLMD|387119	
nEN-early1	VPS26B	0.334027273	4.89E-06	Transport/cargo protein	BrainSpLMD|112936	OMIM|610027
nEN-early1	CBX5	0.299224995	5.15E-06	DNA binding protein	BrainSpLMD|23468	OMIM|604478
nEN-early1	ELAVL3	0.827959263	5.23E-06	RNA binding protein	BrainSpLMD|1995	SFARI||Autism, 3 - Suggestive evidence;OMIM|603458
nEN-early1	UBE2V2	0.439433219	5.38E-06	Ubiquitin proteasome system protein	BrainSpLMD|7336;Eurexp|euxassay_007283|embryo	OMIM|603001
nEN-early1	TTN	0.736703266	5.43E-06	Structural protein;Enzyme: Phosphotransferase	BrainSpLMD|7273;Eurexp|euxassay_012439|atrium, diaphragm, extrinsic ocular muscle, footplate, mesenchyme, rest of mesenchyme, skeletal muscle, tarsus, ventricle, vertebral axis muscle system	SFARI||Autism, 4 - Minimal evidence;OMIM|188840;HPO|7273|Adult onset, Arrhythmia, Autosomal dominant inheritance, Autosomal recessive inheritance, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Childhood onset, Congenital onset, Diaphragmatic weakness, Dilated cardiomyopathy, Distal muscle weakness, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Facial palsy, Flexion contracture, Foot dorsiflexor weakness, Generalized muscle weakness, Hypertrophic cardiomyopathy, Incomplete penetrance, Infantile onset, Motor delay, Muscular dystrophy, Myopathy, Neck flexor weakness, Proximal muscle weakness, Ptosis, Rimmed vacuoles, Scoliosis, Slow progression, Steppage gait, Sudden death
nEN-early1	SRGAP1	0.50009992	5.67E-06	GTPase activating protein	BrainSpLMD|57522	OMIM|606523
nEN-early1	SHANK2	0.382796489	5.95E-06	Structural protein	BrainSpLMD|22941	SFARI||Autism, 2 - Strong candidate;OMIM|603290
nEN-early1	YWHAZP3	0.503769236	6.20E-06			
nEN-early1	CNR1	0.547526599	6.43E-06	G protein coupled receptor	BrainSpLMD|1268;BrainSpMouseDev|12584	SFARI||Autism, 3 - Suggestive evidence;OMIM|114610
nEN-early1	RAB11A	0.365913337	6.43E-06	GTPase	BrainSpLMD|8766	OMIM|605570
nEN-early1	HECTD4	0.527733954	6.77E-06	Unclassified	BrainSpLMD|283450;Eurexp|euxassay_010071|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence
nEN-early1	TSPAN18	1.307026339	6.86E-06	Integral membrane protein	BrainSpLMD|90139;Eurexp|euxassay_002400|ventricular layer	
nEN-early1	SKA2	0.275177224	6.86E-06	Unclassified	BrainSpLMD|348235;Eurexp|euxassay_007512|left lung, metanephros, olfactory, retina, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|616674
nEN-early1	NFIA.AS1	1.148227587	7.14E-06			
nEN-early1	CHD7	0.290681635	7.17E-06	DNA binding protein	Eurexp|euxassay_010758|marginal layer, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|608892;HPO|55636|Abnormality of body height, Abnormality of female internal genitalia, Abnormality of lymphocytes, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Alopecia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bifid scrotum, Breast hypoplasia, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Desquamation of skin soon after birth, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysphagia, Edema, Eosinophilia, Erectile abnormalities, Erythroderma, Esophageal atresia, Eunuchoid habitus, External ear malformation, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Female hypogonadism, Fever, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Hepatomegaly, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphopenia, Malar flattening, Male hypogonadism, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Non-obstructive azoospermia, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Pneumonia, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Secondary amenorrhea, Sensorineural hearing impairment, Severe combined immunodeficiency, Sparse body hair, Splenomegaly, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Thickened skin, Tracheoesophageal fistula, Umbilical hernia, Ventricular septal defect, Wide intermamillary distance
nEN-early1	CCT7	0.286582083	7.39E-06	Chaperone	BrainSpLMD|10574	OMIM|605140
nEN-early1	LYRM4	0.923103869	7.46E-06	Unclassified	BrainSpLMD|57128	OMIM|613311;HPO|57128|Autosomal recessive inheritance, Failure to thrive, Feeding difficulties, Hepatic steatosis, Lactic acidosis, Neonatal hypotonia, Respiratory distress
nEN-early1	ENOX1	0.527426901	7.85E-06	RNA binding protein	BrainSpLMD|55068;Eurexp|euxassay_010501|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610914
nEN-early1	ATXN7L1	1.213883101	7.87E-06	Unclassified	BrainSpLMD|222255	
nEN-early1	ATL1	0.500789996	7.97E-06	GTPase	BrainSpLMD|51062	OMIM|606439;HPO|51062|Adult onset, Autoamputation, Autosomal dominant inheritance, Babinski sign, Degeneration of the lateral corticospinal tracts, Distal amyotrophy, Distal lower limb amyotrophy, Distal sensory impairment, Distal sensory loss of all modalities, Heterogeneous, Hyperreflexia, Impaired vibration sensation in the lower limbs, Incomplete penetrance, Insidious onset, Lower limb muscle weakness, Motor delay, Nail dysplasia, Nail dystrophy, Paraplegia, Paresthesia, Peripheral axonal neuropathy, Pes cavus, Progressive, Scoliosis, Spastic gait, Spastic paraplegia, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency, Variable expressivity
nEN-early1	PGAM5	0.263430637	8.02E-06	Enzyme: Mutase	BrainSpLMD|192111	OMIM|614939
nEN-early1	RP11.283I3.6	1.013465775	8.07E-06			
nEN-early1	ZNF415	0.762729057	8.61E-06	DNA binding protein	BrainSpLMD|55786	
nEN-early1	SCUBE1	0.985507375	8.72E-06	Secreted polypeptide	BrainSpLMD|80274;BrainSpMouseDev|41281	OMIM|611746
nEN-early1	CAMK1D	0.482705849	9.01E-06	Serine/threonine kinase	BrainSpLMD|57118	OMIM|607957
nEN-early1	GRB2	0.590173857	9.04E-06	Adapter molecule	BrainSpLMD|2885	OMIM|108355
nEN-early1	KDM4B	1.001283271	9.27E-06	Unclassified	BrainSpLMD|23030;Eurexp|euxassay_009148|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, 4 - Minimal evidence;OMIM|609765
nEN-early1	ZNF292	0.318276774	9.56E-06	Transcription factor		SFARI||Autism, 4 - Minimal evidence;OMIM|616213
nEN-early1	NCKAP5	0.685303536	9.56E-06	Unclassified	BrainSpLMD|344148;Eurexp|euxassay_016857|brain, cochlea, epithelium, left lung, otic capsule, retina, right lung, spinal cord	SFARI||Autism, 4 - Minimal evidence;OMIM|608789
nEN-early1	ZNF266	1.192844487	9.73E-06	Transcription factor	BrainSpLMD|10781	OMIM|604751
nEN-early1	CPE	0.272016893	9.98E-06	Carboxypeptidase	BrainSpLMD|1363	OMIM|114855
nEN-early1	RP5.882C2.2	0.723469389	1.01E-05			
nEN-early1	RBX1	0.311959875	1.01E-05	Ubiquitin proteasome system protein	BrainSpLMD|9978	OMIM|603814
nEN-early1	DPYSL5	0.36983224	1.02E-05	Unclassified	BrainSpLMD|56896;BrainSpMouseDev|41755	OMIM|608383
nEN-early1	MAPRE1	0.4942895	1.03E-05	Cell cycle control protein	BrainSpLMD|22919	OMIM|603108
nEN-early1	BRAF	0.376246468	1.03E-05	Serine/threonine kinase	BrainSpLMD|673	SFARI||Autism, No category;OMIM|164757;COSMIC||melanoma, colorectal, papillary thyroid, borderline ovarian, NSCLC, cholangiocarcinoma, pilocytic astrocytoma, Spitzoid tumour, pancreas acinar carcinoma, melanocytic nevus, prostate, gastric, Cardio-facio-cutaneous syndrome;HPO|673|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal hypothalamus morphology, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormal visual field test, Abnormality of coagulation, Abnormality of the aortic valve, Abnormality of the mitral valve, Abnormality of the pulmonary artery, Abnormality of the spleen, Abnormality of the ulna, Abnormality of vision, Absent eyebrow, Absent eyelashes, Alveolar cell carcinoma, Amegakaryocytic thrombocytopenia, Anterior creases of earlobe, Anteverted nares, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the eyebrow, Arrhythmia, Atopic dermatitis, Atrial septal defect, Atrioventricular canal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Biparietal narrowing, Bitemporal hemianopia, Brachydactyly, Brittle hair, Bronchogenic cyst, Bulbous nose, Bundle branch block, Cavernous hemangioma, Central adrenal insufficiency, Central diabetes insipidus, Cerebral calcification, Cerebral cortical atrophy, Clinodactyly, Clinodactyly of the 5th finger, Coarctation of aorta, Coarse facial features, Coarse hair, Cognitive impairment, Congenital onset, Constipation, Cryptorchidism, Cubitus valgus, Curly hair, Cystic hygroma, Decreased fertility, Deep palmar crease, Deep philtrum, Delayed skeletal maturation, Dental malocclusion, Depressed nasal bridge, Dolichocephaly, Downslanted palpebral fissures, Dry skin, Dysarthria, Dysphagia, Dystrophic fingernails, EEG abnormality, Enlarged pituitary gland, Enlarged thorax, Epicanthus, Excessive daytime somnolence, Excessive wrinkled skin, Failure to thrive, Failure to thrive in infancy, Feeding difficulties in infancy, Fine hair, Freckling, Frontal bossing, Full cheeks, Gastroesophageal reflux, Generalized hyperpigmentation, Generalized hypotonia, Global developmental delay, Growth delay, Headache, Hearing impairment, Hepatomegaly, Heterogeneous, High forehead, High palate, High, narrow palate, Hydrocephalus, Hydronephrosis, Hyperextensibility of the finger joints, Hyperextensible skin, Hyperkeratosis, Hypertelorism, Hypertonia, Hypertrophic cardiomyopathy, Hypogonadotrophic hypogonadism, Hypomelanotic macule, Hypoplasia of the frontal lobes, Hypoplasia of the zygomatic bone, Ichthyosis, Intellectual disability, Intracranial cystic lesion, Intrauterine growth retardation, Joint hyperflexibility, Kyphoscoliosis, Long face, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Lymphedema, Macrocephaly, Macrotia, Male infertility, Melanocytic nevus, Micrognathia, Midface retrusion, Mitral valve prolapse, Multiple cafe-au-lait spots, Multiple lentigines, Multiple palmar creases, Multiple plantar creases, Muscle weakness, Muscular hypotonia, Myopia, Narrow forehead, Nausea and vomiting, Neonatal hypotonia, Neoplasm of the anterior pituitary, Neurofibrosarcoma, Numerous nevi, Nystagmus, Obesity, Oculomotor apraxia, Open bite, Open mouth, Optic nerve dysplasia, Osteolysis, Osteopenia, Palmoplantar keratoderma, Papilledema, Papule, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pectus excavatum of inferior sternum, Pituitary hypothyroidism, Polyhydramnios, Poor suck, Posteriorly rotated ears, Postnatal growth retardation, Premature birth, Progressive visual field defects, Progressive visual loss, Prolactin excess, Prominent forehead, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Radial deviation of finger, Reduced factor XII activity, Reduced factor XIII activity, Relative macrocephaly, Scapular winging, Scoliosis, Seizures, Sensorineural hearing impairment, Severe sensorineural hearing impairment, Shield chest, Short neck, Short nose, Short stature, Skin nodule, Slow decrease in visual acuity, Slow-growing hair, Sparse hair, Sparse or absent eyelashes, Splenomegaly, Sprengel anomaly, Strabismus, Submucous cleft hard palate, Superior pectus carinatum, Synovitis, Tetralogy of Fallot, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Tongue thrusting, Triangular face, Underdeveloped supraorbital ridges, Ventricular septal defect, Vomiting, Webbed neck, Wide intermamillary distance, Wide nasal bridge
nEN-early1	MAP6	0.941931283	1.04E-05	Cytoskeletal associated protein	BrainSpLMD|4135;Eurexp|euxassay_000634|cochlear component, dorsal root ganglion, facial VII, inferior, neural retina, olfactory, superior, trigeminal V, vestibular component	OMIM|601783
nEN-early1	ODC1	0.276103869	1.06E-05	Enzyme: Decarboxylase	BrainSpLMD|4953	OMIM|165640
nEN-early1	SSBP3	0.677070564	1.11E-05	DNA binding protein	BrainSpLMD|23648	OMIM|607390
nEN-early1	PDE10A	0.872377229	1.12E-05	Enzyme: Phosphodiesterase	BrainSpLMD|10846;Eurexp|euxassay_000057|alar plate, basal plate, cerebellum, cerebral cortex, dorsal root ganglion, epithalamus, facial VII, floor plate, floorplate, glossopharyngeal IX, lateral wall, mantle layer, neural retina, pons, roof plate, spinal cord, tegmentum, telencephalon, thalamus, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|23735	OMIM|610652;HPO|10846|Abnormality of the striatum, Autosomal dominant inheritance, Autosomal recessive inheritance, Chorea, Drooling, Dysarthria, Dyskinesia, Frequent falls, Hyperkinesis, Infantile onset, Intellectual disability, Mental deterioration, Motor delay, Muscular hypotonia of the trunk, Nonprogressive, Orofacial dyskinesia, Parkinsonism, Seizures, Unsteady gait
nEN-early1	PSMD14	0.487177501	1.14E-05	Ubiquitin proteasome system protein	BrainSpLMD|10213	OMIM|607173
nEN-early1	DDAH2	0.662180494	1.20E-05	Enzyme: Hydrolase	BrainSpLMD|23564	OMIM|604744
nEN-early1	TP53BP1	0.5282922	1.22E-05	Transcription regulatory protein	BrainSpLMD|7158;Eurexp|euxassay_012562|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|605230
nEN-early1	RAB3D	0.932637305	1.26E-05	GTPase	BrainSpLMD|9545;Eurexp|euxassay_004414|cerebral cortex, dorsal root ganglion, epidermis, facial VII, glossopharyngeal IX, mantle layer, trigeminal V	OMIM|604350
nEN-early1	ATP5O	0.279977628	1.27E-05			
nEN-early1	SPTAN1	0.365612101	1.31E-05	Cytoskeletal protein;Structural protein	BrainSpLMD|6709;Eurexp|euxassay_012194|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lens, mantle layer, midgut, neural retina, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|182810;HPO|6709|Abnormality of skin morphology, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Developmental regression, Epileptic encephalopathy, Generalized hypotonia, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, profound, Intellectual disability, severe, Myoclonus, Progressive microcephaly, Seizures, Spastic tetraplegia, Variable expressivity
nEN-early1	CHCHD6	0.928341084	1.37E-05	Unclassified	BrainSpLMD|84303	OMIM|615634
nEN-early1	POMP	0.293241805	1.40E-05	Unclassified	BrainSpLMD|51371;Eurexp|euxassay_002063|thymus primordium	OMIM|613386;HPO|51371|Amniotic constriction ring, Autosomal recessive inheritance, Congenital nonbullous ichthyosiform erythroderma, Honeycomb palmoplantar keratoderma, Hyperconvex nail, Ichthyosis, Linear arrays of macular hyperkeratoses in flexural areas, Nail dystrophy, Palmoplantar keratoderma, Parakeratosis
nEN-early1	PICALM	0.382251534	1.44E-05	Transport/cargo protein	BrainSpLMD|8301	OMIM|603025;COSMIC||T-ALL, AML
nEN-early1	CNIH2	0.927314846	1.44E-05	Unclassified	BrainSpLMD|254263	OMIM|611288
nEN-early1	UNC79	0.358269764	1.48E-05	Unclassified	BrainSpLMD|57578	OMIM|616884
nEN-early1	DHX9	0.373912901	1.51E-05	Transcription factor	BrainSpLMD|1660;Eurexp|euxassay_010959|brain, cochlea, epithelium, facial VII, glossopharyngeal IX, incisor, left lung, marginal layer, metanephros, midgut, molar, olfactory, pancreas, pharyngo-tympanic tube, retina, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, utricle, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|603115
nEN-early1	TSPAN14	0.355395563	1.59E-05	Integral membrane protein	BrainSpLMD|81619;Eurexp|euxassay_007132|embryo	
nEN-early1	GABPB2	0.674929997	1.63E-05	Unclassified	BrainSpLMD|126626	
nEN-early1	GRIP1	0.936888233	1.68E-05	-	Eurexp|euxassay_013281|neural retina	SFARI||Autism, 2 - Strong candidate;OMIM|604597;HPO|23426|Abnormal cortical gyration, Abnormal heart morphology, Abnormality of the anus, Abnormality of the pinna, Abnormality of the small intestine, Abnormality of the thymus, Abnormality of the umbilicus, Absent eyebrow, Absent eyelashes, Ambiguous genitalia, Anal atresia, Anal stenosis, Anophthalmia, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb, Atresia of the external auditory canal, Autosomal recessive inheritance, Bicornuate uterus, Bifid tongue, Bilateral microphthalmos, Blindness, Calvarial skull defect, Choanal stenosis, Cleft ala nasi, Cleft palate, Cleft upper lip, Clitoral hypertrophy, Conductive hearing impairment, Corneal opacity, Cryptophthalmos, Cryptorchidism, Cupped ear, Cutaneous finger syndactyly, Dental crowding, Dental malocclusion, Depressed nasal bridge, Difficulty in tongue movements, Encephalocele, Extension of hair growth on temples to lateral eyebrow, External ear malformation, Facial cleft, Female pseudohermaphroditism, Finger syndactyly, Hydrocephalus, Hypertelorism, Hypoplasia of penis, Hypoplastic superior helix, Hypospadias, Intellectual disability, Lacrimal duct aplasia, Laryngeal atresia, Laryngeal stenosis, Laryngeal web, Low-set ears, Low-set, posteriorly rotated ears, Malformed lacrimal ducts, Microcephaly, Micropenis, Microphthalmia, Midline nasal groove, Morphological abnormality of the middle ear, Multicystic kidney dysplasia, Myelomeningocele, Pulmonary hypoplasia, Renal hypoplasia, Renal hypoplasia/aplasia, Scrotal hypoplasia, Severe T-cell immunodeficiency, Subglottic stenosis, Toe syndactyly, Underdeveloped nasal alae, Upper eyelid coloboma, Vaginal atresia, Wide intermamillary distance, Wide nasal bridge, Wide nose, Wide pubic symphysis
nEN-early1	ADARB1	1.21097938	1.71E-05	Enzyme: Deaminase	BrainSpLMD|104;Eurexp|euxassay_013376|aorta, aortic sinus, iliac artery, valve	SFARI||Autism, No category;OMIM|601218
nEN-early1	CD24P4	0.301890882	1.72E-05			
nEN-early1	H2AFY2	0.548246159	1.74E-05	DNA binding protein	BrainSpLMD|55506	OMIM|616141
nEN-early1	SMAD9	0.393307872	1.78E-05	Transcription factor;Unclassified	BrainSpLMD|4093;BrainSpMouseDev|35279	OMIM|603295;HPO|4093|Autosomal dominant inheritance, Incomplete penetrance, Increased pulmonary vascular resistance, Progressive, Pulmonary arterial hypertension
nEN-early1	EDIL3	0.477915509	1.81E-05	Extracellular matrix protein	BrainSpLMD|10085	OMIM|606018
nEN-early1	NCOR2	1.045378938	1.81E-05	Transcription regulatory protein	BrainSpLMD|9612;Eurexp|euxassay_009400|incisor, molar, trigeminal V, ventricular layer;BrainSpMouseDev|20364	OMIM|600848;COSMIC||prostate
nEN-early1	ADD3	1.050713825	1.81E-05	Cytoskeletal associated protein	BrainSpLMD|120;Eurexp|euxassay_002919|chondrocranium, epithelium, glandular mucous membrane, lumen, mantle layer, pancreas, ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|601568;HPO|120|Abnormal pyramidal signs, Autosomal recessive inheritance, Cognitive impairment, Dysphagia, Exotropia, Global developmental delay, Infantile onset, Microcephaly, Nystagmus, Poor speech, Spastic diplegia, Spastic tetraplegia, Supranuclear gaze palsy, Variable expressivity
nEN-early1	RBM8A	0.739693258	2.02E-05	RNA binding protein	BrainSpLMD|9939;Eurexp|euxassay_006586|embryo	SFARI||Autism, No category;OMIM|605313;HPO|9939|Abnormality of coagulation, Absent radius, Adducted thumb, Anemia, Anteverted nares, Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasia of the ulna, Aplasia/hypoplasia of the humerus, Atrial septal defect, Autosomal recessive inheritance, Bilateral radial aplasia, Brachycephaly, Broad forehead, Broad thumb, Carpal synostosis, Clinodactyly of the 5th finger, Cow milk allergy, Coxa valga, Decreased antibody level in blood, Eosinophilia, Genu varum, High forehead, Hip dislocation, Horseshoe kidney, Intellectual disability, Low-set, posteriorly rotated ears, Meckel diverticulum, Micrognathia, Motor delay, Pancreatic cysts, Patellar aplasia, Patellar dislocation, Seborrheic dermatitis, Seizures, Shoulder muscle hypoplasia, Spina bifida, Thrombocytopenia, Tibial torsion, Ventricular septal defect
nEN-early1	MIB1	0.387981095	2.07E-05	Ubiquitin proteasome system protein	BrainSpLMD|57534;Eurexp|euxassay_013905|glossopharyngeal IX, mantle layer, molar, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|86214	SFARI||Autism, 4 - Minimal evidence;OMIM|608677;HPO|57534|Autosomal dominant inheritance, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy
nEN-early1	GDI2	0.330011461	2.07E-05	Membrane transport protein	BrainSpLMD|2665	OMIM|600767
nEN-early1	TMEM106B	0.618096273	2.09E-05	Unclassified	BrainSpLMD|54664	OMIM|613413;HPO|54664|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Aggressive behavior, Alexia, Anxiety, Apraxia, Collectionism, Depressivity, Disinhibition, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, EEG with continuous slow activity, Echolalia, Emotional blunting, Frontotemporal cerebral atrophy, Frontotemporal dementia, Grammar-specific speech disorder, Hyperorality, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Perseveration, Personality changes, Poor speech, Restlessness, Restrictive behavior, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold
nEN-early1	CACHD1	0.933016773	2.11E-05	Voltage gated channel	BrainSpLMD|57685;Eurexp|euxassay_006310|incisor, lung, mantle layer, molar, naris, penis, ventricular layer	
nEN-early1	MT.TP	0.356591161	2.14E-05			
nEN-early1	EPS15L1	0.258279383	2.22E-05	Calcium binding protein	BrainSpLMD|58513	OMIM|616826
nEN-early1	CBFA2T2	0.294846259	2.33E-05	Transcription factor	BrainSpLMD|9139;Eurexp|euxassay_019496|lung, marginal layer, neural retina, olfactory, pituitary, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|12181	OMIM|603672
nEN-early1	FUBP1	0.251758365	2.40E-05	Transcription regulatory protein	BrainSpLMD|8880	OMIM|603444;COSMIC||oligodendroglioma
nEN-early1	NOVA2	0.720043808	2.44E-05	RNA binding protein	BrainSpLMD|4858;Eurexp|euxassay_013411|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lung, mantle layer, neural retina, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|601991
nEN-early1	ZNF286A	0.266106876	2.49E-05	DNA binding protein	BrainSpLMD|57335	
nEN-early1	AP3S2	1.008065831	2.53E-05	Adapter molecule	BrainSpLMD|10239;Eurexp|euxassay_013638|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|602416
nEN-early1	CYFIP2	0.394599877	2.57E-05	Unclassified	BrainSpLMD|26999;Eurexp|euxassay_012077|Meckel's cartilage, basioccipital bone, basisphenoid bone, brain, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, olfactory, orbito-sphenoid, pelvic girdle, respiratory, rib, scapula, spinal cord, temporal bone, tibia, trigeminal V, turbinate, vestibulocochlear VIII, vomeronasal organ	OMIM|606323
nEN-early1	PGBD5	1.408418448	2.63E-05	Unclassified	BrainSpLMD|79605	OMIM|616791
nEN-early1	DAB1	0.595432268	2.64E-05	Adapter molecule	BrainSpLMD|1600;Eurexp|euxassay_017879|basal columns, footplate, lip, mantle layer, maxilla, mesenchyme, naris, ventricular layer;BrainSpMouseDev|12911	SFARI||Autism, 5 - Hypothesized but untested;OMIM|603448;HPO|1600|Ataxia, Autosomal dominant inheritance, Dysarthria, Frequent falls, Slow progression, Unsteady gait
nEN-early1	ZNF677	0.539430387	2.68E-05	Translation regulatory protein	BrainSpLMD|342926	
nEN-early1	ZPR1	0.611935797	2.70E-05	Adapter molecule	BrainSpLMD|8882;Eurexp|euxassay_009271|embryo	OMIM|603901
nEN-early1	PUM2	0.274340735	2.75E-05	RNA binding protein	BrainSpLMD|23369	OMIM|607205
nEN-early1	NDUFB10	0.670969273	2.79E-05	Enzyme: Oxidoreductase	BrainSpLMD|4716	OMIM|603843;HPO|4716|Abnormal mitochondria in muscle tissue
nEN-early1	PJA2	0.374315693	2.95E-05	Ubiquitin proteasome system protein	BrainSpLMD|9867;Eurexp|euxassay_000283|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	
nEN-early1	KIAA1644	0.946015483	3.05E-05			
nEN-early1	BCL7A	0.626263824	3.15E-05	Adapter molecule	Eurexp|euxassay_009092|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, medulla oblongata, metanephros, metencephalon, midbrain, molar, neural retina, olfactory, spinal cord, telencephalon, thymus primordium, thyroid, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|601406;COSMIC||BNHL
nEN-early1	KCTD3	0.650379747	3.40E-05	Ion channel	BrainSpLMD|51133	OMIM|613272
nEN-early1	RP11.706O15.5	1.226414595	3.46E-05			
nEN-early1	CERS6	0.873648037	3.47E-05	Transcription regulatory protein	BrainSpLMD|253782	OMIM|615336
nEN-early1	MTF2	0.367568964	3.53E-05	Transcription regulatory protein	BrainSpLMD|22823;BrainSpMouseDev|17532	OMIM|609882
nEN-early1	UBL5	0.319217945	3.57E-05	Ubiquitin proteasome system protein	BrainSpLMD|59286	OMIM|606849
nEN-early1	PIP4K2A	0.363770619	3.63E-05	Lipid Kinase	BrainSpLMD|5305;Eurexp|euxassay_018594|basal plate, dorsal root ganglion, foregut-midgut junction, head mesenchyme, hindgut, incisor, lobe, loop, lumen, mantle layer, medullary stroma, mesenchyme, midgut, olfactory, rectum, stomach, testis, thymus primordium, ventral grey horn, vertebral axis muscle system, vomeronasal organ	OMIM|603140
nEN-early1	NDUFB9	0.637616245	3.79E-05	Enzyme: Oxidoreductase	BrainSpLMD|4715	OMIM|601445;HPO|4715|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
nEN-early1	EPHA4	0.511311968	3.89E-05	Receptor tyrosine kinase	BrainSpLMD|2043;BrainSpMouseDev|13616	OMIM|602188;HPO|2043|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
nEN-early1	SOX12	0.347489873	3.90E-05	Transcription factor	BrainSpLMD|6666;Eurexp|euxassay_019555|facial VII, glossopharyngeal IX, neural retina, trigeminal V;BrainSpMouseDev|20429	OMIM|601947
nEN-early1	DYNLT1	0.318751543	4.01E-05	Unclassified	BrainSpLMD|6993;Eurexp|euxassay_007062|embryo	OMIM|601554
nEN-early1	SLMO1	1.524561768	4.03E-05			
nEN-early1	MT.CO1	0.407643734	4.05E-05			
nEN-early1	C16orf45	0.547657089	4.12E-05	Unclassified	BrainSpLMD|89927;Eurexp|euxassay_002917|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, penis, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
nEN-early1	NCKAP1	0.354710844	4.20E-05	Integral membrane protein	BrainSpLMD|10787;Eurexp|euxassay_009378|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|30368	SFARI||Autism, 2 - Strong candidate;OMIM|604891
nEN-early1	CELF5	0.458429835	4.22E-05	RNA binding protein	BrainSpLMD|60680	OMIM|612680
nEN-early1	FUBP3	0.31809775	4.27E-05	Transcription factor	BrainSpLMD|8939;Eurexp|euxassay_019536|dorsal root ganglion, incisor, lung, metanephros, molar, submandibular gland primordium, ventral grey horn, vibrissa	OMIM|603536
nEN-early1	CDK5R1	0.333515073	4.29E-05	Regulatory/other subunit	BrainSpLMD|8851;BrainSpMouseDev|12354	OMIM|603460
nEN-early1	NUAK1	0.761762981	4.35E-05	Enzyme: Phosphotransferase	BrainSpLMD|9891;Eurexp|euxassay_010978|aorta, axial skeleton, clavicle, dorsal root ganglion, incisor, mandible, mantle layer, maxilla, metanephros, molar, neural retina, olfactory, orbito-sphenoid, trigeminal V, vibrissa, vomeronasal organ	SFARI||Autism, 3 - Suggestive evidence;OMIM|608130
nEN-early1	JPH4	1.075206783	4.67E-05	Unclassified	BrainSpLMD|84502;Eurexp|euxassay_007469|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, mesenchyme, midbrain, rest of mesenchyme, spinal cord, telencephalon, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
nEN-early1	NPTXR	0.332558905	4.86E-05	Cell surface receptor	BrainSpLMD|23467	OMIM|609474
nEN-early1	ACOT7	0.652385518	4.92E-05	Enzyme: Hydrolase	BrainSpLMD|11332;Eurexp|euxassay_011287|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, molar, neural retina, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|602587
nEN-early1	BAI3	0.390714512	5.01E-05			
nEN-early1	C12orf10	0.25917005	5.01E-05	Unclassified	BrainSpLMD|60314	OMIM|611366
nEN-early1	NAA15	0.461543078	5.11E-05	Enzyme: Transferase	BrainSpLMD|80155	SFARI||Autism, 1 - High confidence;OMIM|608000
nEN-early1	KLHDC3	0.501119341	5.31E-05	DNA binding protein	BrainSpLMD|116138	OMIM|611248
nEN-early1	NDUFA12	0.442597478	5.37E-05	Enzyme: Oxidoreductase	BrainSpLMD|55967;Eurexp|euxassay_005963|embryo	OMIM|614530;HPO|55967|Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
nEN-early1	KPNA4	0.493623686	5.51E-05	Transport/cargo protein	BrainSpLMD|3840	OMIM|602970
nEN-early1	ATF7IP	0.751821869	5.56E-05	Transcription regulatory protein	BrainSpLMD|55729	OMIM|613644
nEN-early1	PDE2A	0.689514861	5.68E-05	Enzyme: Phosphodiesterase	BrainSpLMD|5138	OMIM|602658
nEN-early1	PDS5B	0.477157279	5.92E-05	Transcription factor	BrainSpLMD|23047	OMIM|605333
nEN-early1	DANCR	0.771988602	6.06E-05			OMIM|614625
nEN-early1	HMGCR	0.680393236	6.11E-05	Enzyme: Reductase	BrainSpLMD|3156;Eurexp|euxassay_004330|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nucleus pulposus, spinal cord, thoracic, trigeminal V, vagus X	OMIM|142910
nEN-early1	RAD54L2	0.813234618	6.17E-05	DNA binding protein	BrainSpLMD|23132	
nEN-early1	BMPR2	0.566940239	6.21E-05	Receptor serine/threonine kinase	BrainSpLMD|659;Eurexp|euxassay_008027|dorsal root ganglion, glossopharyngeal IX, neural retina, trigeminal V;BrainSpMouseDev|11954	OMIM|600799;HPO|659|Abnormal thrombosis, Arterial intimal fibrosis, Autosomal dominant inheritance, Dyspnea, Elevated jugular venous pressure, Elevated right atrial pressure, Hypertension, Incomplete penetrance, Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis, Pulmonary venous occlusion, Right ventricular failure, Right ventricular hypertrophy, Telangiectasia
nEN-early1	YTHDF2	0.31457905	6.34E-05	Unclassified	BrainSpLMD|51441	OMIM|610640
nEN-early1	PPP2R1B	0.893416333	6.38E-05	Regulatory/other subunit;Serine/threonine phosphatase	BrainSpLMD|5519;Eurexp|euxassay_012306|incisor, mantle layer, molar, submandibular gland primordium, thymus primordium	SFARI||Autism, 4 - Minimal evidence;OMIM|603113;HPO|5519|Alveolar cell carcinoma, Autosomal recessive inheritance
nEN-early1	DR1	0.356279059	6.51E-05	Transcription regulatory protein	BrainSpLMD|1810	OMIM|601482
nEN-early1	KDM1A	0.500664623	6.60E-05	Enzyme: Deacetylase;Transcription regulatory protein	BrainSpLMD|23028	OMIM|609132;HPO|23028|Abnormal vertebral morphology, Autosomal dominant inheritance, Frontal bossing, Generalized hypotonia, Highly arched eyebrow, Lower limb hypertonia, Motor delay, Short thumb, Tapered finger
nEN-early1	UCHL3	0.702217705	6.63E-05	Ubiquitin proteasome system protein	BrainSpLMD|7347	OMIM|603090
nEN-early1	RBM3	0.429466814	6.71E-05	RNA binding protein	BrainSpLMD|5935	OMIM|300027
nEN-early1	FXYD6	0.353037904	6.78E-05	Ion channel	BrainSpLMD|53826;Eurexp|euxassay_005187|brain, cervical, cervico-thoracic, cortex, facial VII, spinal cord, thoracic, trigeminal V, vagus X, valve, vestibulocochlear VIII;BrainSpMouseDev|37655	OMIM|606683
nEN-early1	CLCN3	0.343674863	6.90E-05	Voltage gated channel	BrainSpLMD|1182;Eurexp|euxassay_012819|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn, ventricular layer	OMIM|600580
nEN-early1	B4GALT5	0.482821836	6.93E-05	Enzyme: Galactosyltransferase	BrainSpLMD|9334;Eurexp|euxassay_010321|basal columns, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, larynx, mantle layer, olfactory, stomach, trigeminal V, vagus X, valve	OMIM|604016
nEN-early1	UBE3A	0.387608498	6.98E-05	Ubiquitin proteasome system protein	BrainSpLMD|7337;BrainSpMouseDev|21972	SFARI||Autism, 3 - Suggestive evidence;OMIM|601623;HPO|7337|Absent speech, Apraxia, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Blue irides, Brachycephaly, Broad-based gait, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Clumsiness, Constipation, Deeply set eye, Delayed speech and language development, Drooling, EEG abnormality, Exotropia, Fair hair, Feeding difficulties in infancy, Flat occiput, Generalized hypotonia, Global developmental delay, Hyperactivity, Hyperreflexia, Hypopigmentation of the skin, Hypoplasia of the maxilla, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Limb tremor, Macroglossia, Mandibular prognathia, Motor delay, Muscular hypotonia, Myopia, Nystagmus, Obesity, Obsessive-compulsive behavior, Paroxysmal bursts of laughter, Postnatal microcephaly, Progressive gait ataxia, Protruding tongue, Scoliosis, Seizures, Sleep-wake cycle disturbance, Sporadic, Strabismus, Wide mouth, Widely spaced teeth
nEN-early1	CCDC124	0.671587444	6.98E-05	Unclassified	BrainSpLMD|115098	
nEN-early1	MOSPD1	0.726642218	7.03E-05	Unclassified	BrainSpLMD|56180;Eurexp|euxassay_006541|choroid invagination, choroid plexus, diaphragm, extrinsic, glossopharyngeal IX, intrinsic, mesenchyme, paraxial mesenchyme, rest of mesenchyme, transverse component, trigeminal V, vagus X, vertebral axis muscle system, vertical component, vestibulocochlear VIII	OMIM|300674
nEN-early1	NFYA	0.693958806	7.03E-05	Transcription factor	BrainSpLMD|4800;BrainSpMouseDev|17811	OMIM|189903
nEN-early1	SMARCC1	0.266792542	7.13E-05	Transcription factor	BrainSpLMD|6599	OMIM|601732
nEN-early1	STAU2	0.675439326	7.20E-05	RNA binding protein	BrainSpLMD|27067;Eurexp|euxassay_011484|cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605920
nEN-early1	ARMC8	0.43525344	7.28E-05	Unclassified	BrainSpLMD|25852	
nEN-early1	RP11.20O24.4	0.847975283	7.31E-05			
nEN-early1	MESDC1	1.205981012	7.34E-05			
nEN-early1	RP11.706O15.3	0.56312502	7.45E-05			
nEN-early1	NHP2	0.330358664	7.71E-05	Ribonucleoprotein	Eurexp|euxassay_002168|axial muscle, orbito-sphenoid	OMIM|606470;HPO|55651|Abnormal blistering of the skin, Abnormality of coagulation, Abnormality of female internal genitalia, Abnormality of neutrophils, Abnormality of the fingernails, Abnormality of the pharynx, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic anemia, Aplastic/hypoplastic toenail, Autosomal recessive inheritance, Bone marrow hypocellularity, Carious teeth, Cellular immunodeficiency, Cirrhosis, Esophageal stenosis, Esophageal stricture, Global developmental delay, Growth delay, Hepatic fibrosis, Hyperhidrosis, Hypermelanotic macule, Hyperpigmentation of the skin, Hypodontia, Hypopigmented skin patches, Increased lacrimation, Intellectual disability, Intrauterine growth retardation, Malabsorption, Microcephaly, Microdontia, Nail dysplasia, Nail dystrophy, Nasolacrimal duct obstruction, Oral leukoplakia, Osteoporosis, Pancytopenia, Periodontitis, Phenotypic variability, Pterygium of nails, Pulmonary fibrosis, Recurrent fractures, Recurrent respiratory infections, Reticulated skin pigmentation, Rough bone trabeculation, Short stature, Skin ulcer, Small nail, Sparse eyelashes, Sparse hair, Sparse scalp hair, Taurodontia, Telangiectasia of the skin, Testicular atrophy, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis
nEN-early1	STXBP5	0.591940936	8.01E-05	Transport/cargo protein	BrainSpLMD|134957	SFARI||Autism, 3 - Suggestive evidence;OMIM|604586
nEN-early1	SCG5	0.741933568	8.07E-05	Chaperone	BrainSpLMD|6447;Eurexp|euxassay_007348|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, oesophagus, olfactory, pituitary, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20157	OMIM|173120
nEN-early1	VASH1	0.4810878	8.19E-05	Growth inhibitory factor	BrainSpLMD|22846;Eurexp|euxassay_009040|dorsal root ganglion, glossopharyngeal IX, marginal layer, trigeminal V, vagus X	SFARI||Autism, 4 - Minimal evidence;OMIM|609011
nEN-early1	C14orf132	0.520245088	8.33E-05	Unclassified	BrainSpLMD|56967	
nEN-early1	CSDE1	0.253947846	8.52E-05	RNA binding protein	BrainSpLMD|7812	OMIM|191510
nEN-early1	MT.TS1	0.630614315	8.72E-05			
nEN-early1	ANAPC15	0.608397019	8.75E-05	Unclassified	BrainSpLMD|25906	OMIM|614717
nEN-early1	MAGED1	0.257909418	8.77E-05	Cell cycle control protein	BrainSpLMD|9500;Eurexp|euxassay_012384|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system;BrainSpMouseDev|60907	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300224
nEN-early1	EIF4EBP1	0.553786096	9.05E-05	Translation regulatory protein	BrainSpLMD|1978;Eurexp|euxassay_004855|skeletal muscle, vertebral axis muscle system	OMIM|602223
nEN-early1	SEZ6L	0.519821161	9.14E-05	Integral membrane protein	BrainSpLMD|23544;Eurexp|euxassay_009459|brain, neural retina, spinal cord	OMIM|607021
nEN-early1	PSMA4	0.389298245	9.27E-05	Ubiquitin proteasome system protein	BrainSpLMD|5685	OMIM|176846
nEN-early1	KLF13	0.631757347	9.28E-05	Transcription factor	BrainSpLMD|51621	OMIM|605328;HPO|51621|Abnormal facial shape, Autosomal dominant inheritance, Phenotypic variability
nEN-early1	TMOD2	0.625452969	9.29E-05	Cytoskeletal associated protein	BrainSpLMD|29767	OMIM|602928
nEN-early1	RNF182	0.605108868	9.64E-05	Ubiquitin proteasome system protein	BrainSpLMD|221687;Eurexp|euxassay_012952|mantle layer, marginal layer, olfactory	
nEN-early1	B3GALT1	0.658359454	9.65E-05	Enzyme: Galactosyltransferase	BrainSpLMD|8708	OMIM|603093
nEN-early1	NUMB	0.488557945	0.000102493	Unclassified	BrainSpLMD|8650;Eurexp|euxassay_012553|ventricle;BrainSpMouseDev|17989	OMIM|603728
nEN-early1	GSK3B	0.900496419	0.000102944	Serine/threonine kinase	BrainSpLMD|2932;Eurexp|euxassay_004227|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, retina, spinal cord, thoracic, trigeminal V;BrainSpMouseDev|35917	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605004
nEN-early1	EIF4E3	0.862055096	0.000104322	RNA binding protein	BrainSpLMD|317649;Eurexp|euxassay_007888|neural retina, olfactory, vomeronasal organ	OMIM|609896
nEN-early1	RP11.806K15.1	0.605157401	0.000105405			
nEN-early1	ILF2	0.380948037	0.000106363	Transcription factor	BrainSpLMD|3608;Eurexp|euxassay_003141|cervical, cervico-thoracic, chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, submandibular gland primordium, thoracic, trigeminal V, vestibulocochlear VIII, vibrissa	SFARI||Autism, 2 - Strong candidate;OMIM|603181
nEN-early1	SRP9	0.345287393	0.000109686	RNA binding protein		OMIM|600707
nEN-early1	TXLNA	0.410310935	0.000110134	Unclassified	BrainSpLMD|200081;Eurexp|euxassay_005956|embryo	OMIM|608676
nEN-early1	PHF20	0.253295743	0.000111604	Transcription factor	BrainSpLMD|51230	OMIM|610335
nEN-early1	FKBP1A	0.50842581	0.00011302	Enzyme: Isomerase	BrainSpLMD|2280;Eurexp|euxassay_003477|Meckel's cartilage, incisor, lip, mantle layer, molar, orbito-sphenoid, ventral grey horn, ventricular layer	OMIM|186945
nEN-early1	ITGB1BP1	0.463071363	0.000113875	Adapter molecule	BrainSpLMD|9270;Eurexp|euxassay_006800|left lung, right lung	OMIM|607153
nEN-early1	PPP2R5E	0.416105026	0.000113915	Regulatory/other subunit	BrainSpLMD|5529	OMIM|601647
nEN-early1	EBAG9	0.599479809	0.0001143	Membrane bound ligand	BrainSpLMD|9166	OMIM|605772
nEN-early1	UBAP2	0.59564817	0.000119204	Unclassified	BrainSpLMD|55833	
nEN-early1	ABR	0.652530286	0.000120898	GTPase activating protein	BrainSpLMD|29;Eurexp|euxassay_008421|brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, mesenchyme, mesothelium, midgut, naso-lacrimal duct, olfactory, peritoneal cavity, rib, right lung, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|600365
nEN-early1	PPA1	0.315013276	0.000121573	Enzyme: Phosphohydrolase	BrainSpLMD|5464;Eurexp|euxassay_004470|bladder, cranium, forelimb, hindlimb, incisor, lung, mandible, maxilla, mesenchyme, metanephros, midgut, nasal septum, olfactory, orbito-sphenoid, palatal shelf, pancreas, respiratory, submandibular gland primordium, tail, turbinate bones, vibrissa	OMIM|179030
nEN-early1	WNK2	1.485772782	0.000129873	Serine/threonine kinase	BrainSpLMD|65268;Eurexp|euxassay_009817|brain, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|606249;COSMIC||gastric cancer
nEN-early1	NEUROG2	1.037758501	0.000132294	Transcription factor	BrainSpLMD|63973;Eurexp|euxassay_017863|lateral wall, mantle layer, neural retina, roof plate, ventricular layer;BrainSpMouseDev|11710	OMIM|606624
nEN-early1	RC3H1	0.302225712	0.000134005	Ubiquitin proteasome system protein		OMIM|609424
nEN-early1	CEP63	0.434555439	0.000134736	Unclassified	BrainSpLMD|80254;Eurexp|euxassay_012298|olfactory, vomeronasal organ	OMIM|614724;HPO|80254|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Delayed speech and language development, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
nEN-early1	ATP6V0A1	0.3147641	0.000135261	Ion channel	BrainSpLMD|535	OMIM|192130
nEN-early1	FAT4	0.505662986	0.000137193	Adhesion molecule	BrainSpLMD|79633	OMIM|612411;COSMIC||lymphoma, pancreatic, head and neck, melanoma, hepatocellular carcinoma, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2;HPO|79633|Atresia of the external auditory canal, Autosomal recessive inheritance, Bifid scrotum, Blepharophimosis, Clinodactyly, Conductive hearing impairment, Congenital onset, Cryptorchidism, Cutaneous finger syndactyly, Dental malocclusion, Downturned corners of mouth, Epicanthus, Feeding difficulties, Generalized hypotonia, Growth delay, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypospadias, Intellectual disability, Irregular dentition, Joint laxity, Malar flattening, Micrognathia, Micropenis, Microtia, Midface retrusion, Narrow chest, Narrow forehead, Osteopenia, Ptosis, Renal hypoplasia, Sacral dimple, Scoliosis, Sensorineural hearing impairment, Short 4th metacarpal, Short clavicles, Short fourth metatarsal, Short palpebral fissure, Skeletal dysplasia, Talipes equinovarus, Tented upper lip vermilion, Tracheomalacia, Wide anterior fontanel, Wide cranial sutures, Wide nasal bridge
nEN-early1	DOPEY2	0.685532757	0.000139089	Unclassified	BrainSpLMD|9980	OMIM|604803
nEN-early1	SCARNA22	0.459427783	0.000139818			
nEN-early1	CACNA1A	0.374616364	0.000142133	Voltage gated channel	BrainSpLMD|773;Eurexp|euxassay_006343|brain, central nervous system, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|12071	SFARI||Autism, No category;OMIM|601011;HPO|773|Abnormal vestibulo-ocular reflex, Abnormality of movement, Agitation, Anxiety, Ataxia, Athetosis, Auditory hallucinations, Autosomal dominant inheritance, Cerebellar atrophy, Cerebellar vermis atrophy, Coma, Confusion, Diplopia, Downbeat nystagmus, Drowsiness, Dysarthria, Dyscalculia, Dysphagia, Dysphasia, Dystonia, EEG abnormality, Epileptic encephalopathy, Episodic ataxia, Esotropia, Fever, Flexion contracture, Gaze-evoked nystagmus, Generalized hypotonia, Genetic anticipation, Global developmental delay, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Heterogeneous, Hyperreflexia, Hypertonia, Impaired smooth pursuit, Incomplete penetrance, Migraine, Migraine with aura, Muscle weakness, Myotonia, Nystagmus, Paresthesia, Progressive, Progressive cerebellar ataxia, Psychosis, Saccadic smooth pursuit, Seizures, Sensory neuropathy, Tinnitus, Transient unilateral blurring of vision, Tremor, Vertigo, Vestibular dysfunction, Visual hallucinations
nEN-early1	CROCCP2	0.280915309	0.000145435	Unclassified	BrainSpLMD|84809	
nEN-early1	SLC7A6	1.176202439	0.000147659	Membrane transport protein	BrainSpLMD|9057	OMIM|605641
nEN-early1	TMEM130	1.161568937	0.000148376	Unclassified	BrainSpLMD|222865;Eurexp|euxassay_012940|brain, dorsal root ganglion, facial VII, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	
nEN-early1	DNAH14	0.893913823	0.00014959	Motor protein	BrainSpLMD|127602	OMIM|603341
nEN-early1	TAF11	0.436101941	0.000155242	Transcription regulatory protein	BrainSpLMD|6882	OMIM|600772
nEN-early1	MYO6	0.322589449	0.000156177	Motor protein	BrainSpLMD|4646	OMIM|600970;HPO|4646|Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment
nEN-early1	RWDD1	0.497994493	0.00015795	Unclassified	BrainSpLMD|51389	
nEN-early1	KLHL28	0.579777777	0.000158237	Unclassified	BrainSpLMD|54813;Eurexp|euxassay_002559|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, stroma, trigeminal V, vestibulocochlear VIII	
nEN-early1	LCLAT1	0.567521208	0.000160274	Enzyme: Acyltransferase	BrainSpLMD|253558	OMIM|614241
nEN-early1	DLG3	0.619859063	0.00016062	Cell junction protein	BrainSpLMD|1741	OMIM|300189;HPO|1741|Behavioral abnormality, Delayed speech and language development, Enuresis, Generalized hypotonia, Global developmental delay, Intellectual disability, Strabismus, X-linked inheritance, X-linked recessive inheritance
nEN-early1	PFDN4	0.277415602	0.000165142	Chaperone	BrainSpLMD|5203	OMIM|604898
nEN-early1	FAM89B	0.839258459	0.000165597	Unclassified	BrainSpLMD|23625;Eurexp|euxassay_011245|aortic valve, facial VII, glossopharyngeal IX, mantle layer, mitral valve, neural retina, olfactory, tricuspid valve, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|616128
nEN-early1	MTDH	0.47139593	0.000171604	Unclassified	BrainSpLMD|92140	OMIM|610323
nEN-early1	TPM3	0.645768578	0.000171833	Cytoskeletal associated protein;Structural protein	BrainSpLMD|7170	OMIM|191030;COSMIC||papillary thyroid, ALCL, NSCLC, Spitzoid tumour;HPO|7170|Autosomal dominant inheritance, Autosomal recessive inheritance, Bulbar palsy, Centrally nucleated skeletal muscle fibers, Congenital onset, Decreased fetal movement, Dilated cardiomyopathy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Dysphagia, EMG: myopathic abnormalities, Facial diplegia, Facial palsy, Failure to thrive, Feeding difficulties, Flexion contracture, Generalized muscle weakness, Heterogeneous, High palate, Juvenile onset, Long face, Lumbar hyperlordosis, Motor delay, Muscular hypotonia, Myopathy, Narrow face, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Pectus excavatum, Pes cavus, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Reduced tendon reflexes, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scoliosis, Shoulder girdle muscle atrophy, Type 1 fibers relatively smaller than type 2 fibers, Variable expressivity, Weak cry
nEN-early1	CDHR3	0.903905734	0.00017901	Unclassified	BrainSpLMD|222256	OMIM|615610
nEN-early1	BACH2	1.065195809	0.000180659	Transcription factor	BrainSpLMD|60468;Eurexp|euxassay_002436|dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vibrissa;BrainSpMouseDev|11800	OMIM|605394
nEN-early1	DGKD	0.815796045	0.000181178	Enzyme: Phosphotransferase	BrainSpLMD|8527	OMIM|601826
nEN-early1	FAT3	0.823007921	0.000193657	Integral membrane protein	Eurexp|euxassay_015982|axial muscle, clavicle, cortex, diaphragm, dorsal root ganglion, exoccipital bone, facial VII, femur, lip, mandible, mantle layer, maxilla, mesenchyme, metatarsus, orbito-sphenoid, pelvic girdle, phalanx, rib, saccule, skeletal muscle, sternum, thymus primordium, trigeminal V, urethra, vault of skull, ventricular layer, vibrissa;BrainSpMouseDev|92930	OMIM|612483;COSMIC||SCC, colon adenocarcinoma, gastric adenocarcinoma
nEN-early1	PAPOLG	0.590793545	0.000194975	RNA polymerase	BrainSpLMD|64895	OMIM|616865
nEN-early1	RABGAP1	0.400165848	0.000196068	GTPase activating protein	BrainSpLMD|23637	OMIM|615882
nEN-early1	STARD4	0.585233979	0.000197967	Unclassified	BrainSpLMD|134429;Eurexp|euxassay_008767|hindgut, midgut, rectum	OMIM|607049
nEN-early1	ATP5C1	0.340175434	0.000198107			
nEN-early1	UBE2N	0.298325033	0.000201065	Ubiquitin proteasome system protein	BrainSpLMD|7334	OMIM|603679
nEN-early1	TBC1D9	0.505373981	0.00020125	Unclassified		
nEN-early1	RP5.1085F17.3	0.383587283	0.000204094			
nEN-early1	SPTBN1	0.319473724	0.000219984	Cytoskeletal protein	BrainSpLMD|6711	OMIM|182790
nEN-early1	IGF2BP1	0.454947628	0.000220937	RNA binding protein	BrainSpLMD|10642;Eurexp|euxassay_000116|capsule, cortex, lens, mesenchyme, metanephros, physiological umbilical hernia, retina	OMIM|608288
nEN-early1	GNG4	0.614575617	0.000221677	G protein	BrainSpLMD|2786	OMIM|604388
nEN-early1	DOCK9	0.348971084	0.000227103	Guanine nucleotide exchange factor	BrainSpLMD|23348	OMIM|607325
nEN-early1	ZNF397	0.787520639	0.000242316	Transcription regulatory protein	BrainSpLMD|84307	OMIM|609601
nEN-early1	MID1	0.776889194	0.000245573	Transcription regulatory protein;Ubiquitin proteasome system protein	BrainSpLMD|4281;Eurexp|euxassay_013835|excretory component, marginal layer, neural retina, ventricular layer;BrainSpMouseDev|17087	OMIM|300552;HPO|4281|Abnormal heart morphology, Abnormality of the nasopharynx, Agenesis of corpus callosum, Anal atresia, Anteverted nares, Aspiration, Cleft palate, Cleft upper lip, Cryptorchidism, Dysphagia, Esophageal atresia, Frontal bossing, Gastroesophageal reflux, Global developmental delay, Heterogeneous, High palate, Hypertelorism, Hypospadias, Posterior pharyngeal cleft, Prominent forehead, Smooth philtrum, Telecanthus, Thin upper lip vermilion, Tracheoesophageal fistula, Wide nasal bridge, Widow's peak, X-linked recessive inheritance
nEN-early1	ASNS	0.448159346	0.000245973	Enzyme: Synthase	BrainSpLMD|440;Eurexp|euxassay_004453|dorsal root ganglion, facial VII, floorplate, glossopharyngeal IX, incisor, liver, lung, mantle layer, marginal layer, midgut, naso-lacrimal duct, pancreas, retina, skeletal muscle, stomach, trigeminal V, vagus X	OMIM|108370;HPO|440|Autosomal recessive inheritance, Cerebellar hypoplasia, Cortical dysplasia, Cortical gyral simplification, Cortical visual impairment, Delayed myelination, Encephalopathy, Exaggerated startle response, Failure to thrive, Feeding difficulties, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Hypsarrhythmia, Large hands, Long foot, Macrotia, Microcephaly, Micrognathia, Muscular hypotonia of the trunk, Profound global developmental delay, Progressive, Progressive microcephaly, Respiratory insufficiency, Seizures, Sloping forehead, Spastic tetraplegia, Ventriculomegaly
nEN-early1	MRPL44	0.636433672	0.00025061	Ribosomal subunit	BrainSpLMD|65080	OMIM|611849;HPO|65080|Autosomal recessive inheritance, Elevated hepatic transaminases, Hypertrophic cardiomyopathy, Increased serum lactate, Infantile onset, Microvesicular hepatic steatosis, Variable expressivity
nEN-early1	CS	0.50018816	0.000257469	Enzyme: Acyltransferase	BrainSpLMD|1431	OMIM|118950
nEN-early1	HIF3A	0.43260006	0.000259119	Transcription factor	BrainSpLMD|64344;BrainSpMouseDev|32897	OMIM|609976
nEN-early1	GTDC1	0.741849471	0.00025999	Enzyme: Glycosyltransferase	BrainSpLMD|79712;Eurexp|euxassay_005120|brain, marginal layer, spinal cord	OMIM|610165
nEN-early1	NRCAM	0.332733417	0.000265455	Adhesion molecule	BrainSpLMD|4897;BrainSpMouseDev|106439	SFARI||Autism, 4 - Minimal evidence;OMIM|601581
nEN-early1	VPS29	0.471561993	0.000267373	Transport/cargo protein;Enzyme: Hydrolase	BrainSpLMD|51699;Eurexp|euxassay_003692|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|606932
nEN-early1	WBSCR16	0.579948652	0.00027853			
nEN-early1	GAREM	0.466626241	0.000284054			
nEN-early1	ZNF562	0.580699705	0.000298851	Unclassified	BrainSpLMD|54811	
nEN-early1	ZNF124	0.343552471	0.000299847	DNA binding protein	BrainSpLMD|7678	OMIM|194631
nEN-early1	DDX1	0.373659878	0.000301309	RNA binding protein	BrainSpLMD|1653	OMIM|601257
nEN-early1	PQBP1	0.841542353	0.00030343	Transcription regulatory protein	BrainSpLMD|10084	OMIM|300463;HPO|10084|Abnormality of the rib cage, Anal atresia, Anxiety, Arachnodactyly, Atrial septal defect, Blindness, Brachycephaly, Brittle hair, Bulbous nose, Camptodactyly, Cataract, Cerebral atrophy, Cleft palate, Clinodactyly of the 5th finger, Coloboma, Cupped ear, Death in infancy, Decreased testicular size, Dry hair, Epicanthus, Global developmental delay, Hearing impairment, High palate, Hypermetropia, Hyperreflexia, Hypospadias, Intellectual disability, Joint contracture of the hand, Long face, Macroglossia, Macrotia, Malar flattening, Mandibular prognathia, Microcephaly, Micrognathia, Nail dystrophy, Narrow face, Narrow foot, Narrow mouth, Nasal speech, Pectus excavatum, Pes cavus, Phimosis, Poor suck, Protruding ear, Scoliosis, Seizures, Short philtrum, Short stature, Situs inversus totalis, Sparse hair, Sparse lateral eyebrow, Spastic diplegia, Spasticity, Strabismus, Tetralogy of Fallot, Thin upper lip vermilion, Triangular face, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge, X-linked recessive inheritance
nEN-early1	CNKSR2	0.64705409	0.000310989	Unclassified	BrainSpLMD|22866	SFARI||Autism, 3 - Suggestive evidence;OMIM|300724;HPO|22866|Intellectual disability
nEN-early1	HERC2	0.586050602	0.000320377	Ubiquitin proteasome system protein	BrainSpLMD|8924;Eurexp|euxassay_014975|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|605837;HPO|8924|Abdominal obesity, Aggressive behavior, Almond-shaped palpebral fissure, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Blue irides, Clinodactyly, Clitoral hypoplasia, Cutaneous photosensitivity, Decreased fetal movement, Decreased muscle mass, Delayed puberty, Delayed speech and language development, Dolichocephaly, Downturned corners of mouth, Failure to thrive in infancy, Generalized hypopigmentation, Generalized hypotonia, Global developmental delay, Growth hormone deficiency, Hyperactivity, Hyperinsulinemia, Hypermetropia, Hypogonadotrophic hypogonadism, Hypoplastic labia minora, Hypoventilation, Impaired pain sensation, Infantile onset, Infertility, Intellectual disability, Kyphosis, Mandibular prognathia, Micropenis, Motor delay, Narrow forehead, Narrow nasal bridge, Narrow palate, Narrow palm, Nasal speech, Obesity, Oligomenorrhea, Plagiocephaly, Polyphagia, Poor gross motor coordination, Poor suck, Recurrent respiratory infections, Sandal gap, Scoliosis, Self-mutilation, Short foot, Short palm, Short stature, Sleep apnea, Small hand, Specific learning disability, Sporadic, Strabismus, Thin upper lip vermilion, Unsteady gait, Ventriculomegaly
nEN-early1	MTMR4	0.656680444	0.000323306	Dual specificity phosphatase	BrainSpLMD|9110	OMIM|603559
nEN-early1	CNOT6	0.74336303	0.000328679	DNA endonuclease	BrainSpLMD|57472	OMIM|608951
nEN-early1	RFX3	0.593638243	0.000329888	Transcription factor	BrainSpLMD|5991	SFARI||Autism, 4 - Minimal evidence;OMIM|601337
nEN-early1	MIEN1	0.625549693	0.000335691	Unclassified	BrainSpLMD|84299;Eurexp|euxassay_001703|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|611802
nEN-early1	UNC13B	0.645221935	0.000342528	Calcium binding protein	BrainSpLMD|10497	OMIM|605836
nEN-early1	C11orf49	0.410566167	0.000349659	Unclassified	BrainSpLMD|79096	
nEN-early1	NUMA1	0.92126118	0.000351494	Structural protein	BrainSpLMD|4926;Eurexp|euxassay_010729|olfactory lobe, ventricular layer	OMIM|164009;COSMIC||APL;HPO|4926|Abnormality of cells of the granulocytic lineage, Acute promyelocytic leukemia, Somatic mutation
nEN-early1	RAP1GDS1	0.384771919	0.000362497	Guanine nucleotide exchange factor	BrainSpLMD|5910;Eurexp|euxassay_003801|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, penis, trigeminal V, ventral grey horn	OMIM|179502;COSMIC||T-ALL
nEN-early1	TBC1D7	0.442094954	0.000362551	Unclassified	BrainSpLMD|51256;Eurexp|euxassay_011771|dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, trigeminal V, vagus X	SFARI||Autism, No category;OMIM|612655
nEN-early1	GSTA4	0.394200916	0.000366593	Enzyme: Glutathione transferase	BrainSpLMD|2941	OMIM|605450
nEN-early1	ANKRD44	0.342750697	0.000366765	Unclassified	BrainSpLMD|91526	
nEN-early1	SNAP91	0.290230603	0.000370332	Adapter molecule	BrainSpLMD|9892;Eurexp|euxassay_000563|atrium, calyces, cervical, cervico-thoracic, choroid plexus, dorsal root ganglion, extraembryonic component, facial VII, foregut-midgut junction, glossopharyngeal IX, heart, hindgut, hindlimb, limb, mantle layer, marginal layer, mesenchyme, midgut, neural retina, olfactory, stomach, stroma, thoracic, trigeminal V, urethra, vagus X, ventricle, vertebral axis muscle system, vestibulocochlear VIII	OMIM|607923
nEN-early1	PRMT1	0.435240267	0.000377906	Enzyme: Methyltransferase	BrainSpLMD|3276;Eurexp|euxassay_017432|cardiovascular system, chondrocranium, cortex, dorsal root ganglion, incisor, integumental system, left lung, lumen, pancreas, right lung, skin, submandibular gland primordium, thymus primordium, vertebral axis muscle system, vibrissa, visceral organ	OMIM|602950
nEN-early1	FAM115B	0.727748752	0.000389529			
nEN-early1	VEZT	0.281526358	0.000389695	Adhesion molecule	BrainSpLMD|55591;Eurexp|euxassay_005115|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, naris, olfactory, respiratory, retina, spinal cord, trigeminal V, vestibulocochlear VIII	
nEN-early1	LATS1	1.00545006	0.000392525	Serine/threonine kinase	BrainSpLMD|9113	OMIM|603473
nEN-early1	VAT1	0.359291255	0.000397983	Transport/cargo protein	BrainSpLMD|10493;BrainSpMouseDev|26694	OMIM|604631
nEN-early1	RSBN1	0.47909816	0.000401263	Transcription regulatory protein	BrainSpLMD|54665	OMIM|615858
nEN-early1	FAM171A1	0.711781684	0.000402507	Integral membrane protein	Eurexp|euxassay_009290|glossopharyngeal IX, mantle layer, trigeminal V	
nEN-early1	NUDT4	0.605242056	0.000403692	Unclassified	BrainSpLMD|11163	OMIM|609229
nEN-early1	FBXO11	0.280026773	0.000424914	Ubiquitin proteasome system protein	BrainSpLMD|80204	OMIM|607871;COSMIC||DLBCL
nEN-early1	CACNB1	1.207461967	0.000432158	Voltage gated channel	BrainSpLMD|782;Eurexp|euxassay_010905|brain, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, spinal cord, trigeminal V, vagus X, vertebral axis muscle system	OMIM|114207
nEN-early1	FSCN1	1.058480039	0.000434561	Structural protein	BrainSpLMD|6624	OMIM|602689
nEN-early1	FAM227A	0.602308451	0.000441109			
nEN-early1	TAX1BP3	0.784248577	0.00044564	Transcription regulatory protein	BrainSpLMD|30851	OMIM|616484
nEN-early1	CCDC23	0.297322275	0.000449479			
nEN-early1	CNTN2	1.134627837	0.000455045	Adhesion molecule	BrainSpLMD|6900;Eurexp|euxassay_000546|alar columns, dorsal root ganglion, epithalamic recess, glossopharyngeal IX, hypothalamus, lateral wall, mantle layer, marginal layer, neural retina, spinal cord, thalamus, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|21128	OMIM|190197;HPO|6900|Autosomal recessive inheritance, EEG abnormality, Focal seizures, Generalized seizures, Generalized tonic-clonic seizures, Hand tremor, Myoclonus, Seizures, Tremor
nEN-early1	7-Mar	0.298320303	0.000456646			
nEN-early1	ABHD6	1.251773108	0.000462971	Unclassified	BrainSpLMD|57406	OMIM|616966
nEN-early1	GPR153	0.671746719	0.000467239	G protein coupled receptor	BrainSpLMD|387509;Eurexp|euxassay_007373|bladder, mandible, maxilla, mesenchyme, neural retina, oesophagus, orbito-sphenoid, petrous part, rib, valve, vault of skull	OMIM|614269
nEN-early1	EAF1	0.454108108	0.000480574	Transcription regulatory protein	BrainSpLMD|85403;Eurexp|euxassay_017241|olfactory	OMIM|608315
nEN-early1	KIF3A	0.479176477	0.000480814	Motor protein	BrainSpLMD|11127	OMIM|604683
nEN-early1	ENO2	0.319432055	0.000487432	Enzyme: Hydratase	BrainSpLMD|2026;Eurexp|euxassay_018457|dorsal root ganglion, facial VII, mantle layer, trigeminal V, vagus X, ventral grey horn	OMIM|131360
nEN-early1	ROGDI	0.520109091	0.000503183	Unclassified	BrainSpLMD|79641;Eurexp|euxassay_003486|calyces, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, trigeminal V, vestibulocochlear VIII	OMIM|614574;HPO|79641|Amelogenesis imperfecta, Ataxia, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral atrophy, Dementia, Developmental regression, EEG abnormality, Epileptic encephalopathy, Hypohidrosis, Hypoplasia of dental enamel, Hypsarrhythmia, Intellectual disability, severe, Seizures, Spasticity, Variable expressivity, Ventriculomegaly, Yellow-brown discoloration of the teeth
nEN-early1	RRN3	0.286615253	0.000504761	Transcription factor	BrainSpLMD|54700	OMIM|605121
nEN-early1	ADD2	0.437241718	0.000506342	Anchor protein	BrainSpLMD|119;Eurexp|euxassay_000013|alar plate, basal plate, bladder, brain, cerebellum, cerebral cortex, diencephalon, dorsal root ganglion, facial VII, forebrain, ganglion, glossopharyngeal IX, gut, heart, lateral wall, left, liver, lobe, lung, mantle layer, marginal layer, neural retina, olfactory cortex, olfactory lobe, pons, retina, right, submandibular gland primordium, sulcus limitans, telencephalon, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	OMIM|102681
nEN-early1	PAFAH1B1	0.299322636	0.000508993	Enzyme: Hydrolase	Eurexp|euxassay_017952|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, skeleton, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|18238	SFARI||Autism, 5 - Hypothesized but untested;OMIM|601545;HPO|5048|Abnormality of the cardiovascular system, Abnormality of the cerebral white matter, Abnormality of upper lip, Anteverted nares, Cerebellar hypoplasia, Cerebral cortical atrophy, Downslanted palpebral fissures, EEG abnormality, Epicanthus, Frontal bossing, Global developmental delay, Growth delay, Heterotopia, High forehead, Hypertelorism, Hypoplasia of the brainstem, Intellectual disability, Lissencephaly, Low-set ears, Muscular hypotonia, Muscular hypotonia of the trunk, Narrow mouth, Pachygyria, Polyhydramnios, Postnatal microcephaly, Seizures, Short neck, Short nose, Spastic tetraparesis, Sporadic, Variable expressivity, Ventriculomegaly, Wide nose
nEN-early1	IPO7	0.768437071	0.000511417	Transport/cargo protein	BrainSpLMD|10527	OMIM|605586
nEN-early1	COMMD3	0.40152288	0.000513249	Unclassified	BrainSpLMD|23412;Eurexp|euxassay_003440|pancreas, submandibular gland primordium	OMIM|616700
nEN-early1	ZNF160	0.70868754	0.000517814	DNA binding protein	BrainSpLMD|90338	OMIM|600398
nEN-early1	DNAJC6	0.521944309	0.000522038	Chaperone	BrainSpLMD|9829;Eurexp|euxassay_006348|cervical, cervico-thoracic, dorsal root ganglion, epithelium, facial VII, genital tubercle, glossopharyngeal IX, mantle layer, marginal layer, midgut, neural retina, olfactory, stomach, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608375;HPO|9829|Abnormal pyramidal signs, Akinesia, Autosomal recessive inheritance, Bradykinesia, Brain atrophy, Cognitive impairment, Dysarthria, Dystonia, Fatigue, Gait ataxia, Hallucinations, Hypomimic face, Hyporeflexia, Inability to walk, Intellectual disability, Leg muscle stiffness, Parkinsonism, Pes cavus, Postural instability, Rapidly progressive, Resting tremor, Rigidity, Scoliosis, Seizures, Short stepped shuffling gait, Shuffling gait, Slow progression, Slowed slurred speech, Spasticity, Tremor, Weak voice
nEN-early1	ZBTB8A	0.62322564	0.000523518	Transcription factor	BrainSpLMD|653121	
nEN-early1	MFHAS1	0.586888928	0.000532649	Unclassified	BrainSpLMD|9258;Eurexp|euxassay_014051|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vibrissa	OMIM|605352
nEN-early1	COMMD9	0.530467089	0.000536365	Unclassified	BrainSpLMD|29099;Eurexp|euxassay_012061|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, otic capsule, pelvic girdle, rib, scapula, temporal bone, tibia, turbinate	OMIM|612299
nEN-early1	DUOX1	0.806465349	0.000555098	Enzyme: Peroxidase	BrainSpLMD|53905	OMIM|606758
nEN-early1	NAPG	0.533245314	0.000557287	Membrane transport protein	BrainSpLMD|8774	OMIM|603216
nEN-early1	SRSF1	0.456346531	0.000564992	RNA binding protein	BrainSpLMD|6426	OMIM|600812
nEN-early1	CHMP3	0.292932201	0.000580666	Unclassified	BrainSpLMD|51652	OMIM|610052
nEN-early1	WDR47	0.617417193	0.000583966	Unclassified	BrainSpLMD|22911;Eurexp|euxassay_004509|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|615734
nEN-early1	NDUFS2	0.642100027	0.000586226	Enzyme: Oxidoreductase	BrainSpLMD|4720	OMIM|602985;HPO|4720|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Blurred vision, Central scotoma, Centrocecal scotoma, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Mitochondrial respiratory chain defects, Muscle weakness, Nystagmus, Optic atrophy, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Retinal telangiectasia, Retinal vascular tortuosity, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Slow decrease in visual acuity, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
nEN-early1	SYP	0.286702361	0.000586556	Transport/cargo protein	BrainSpLMD|6855	OMIM|313475;HPO|6855|Intellectual disability, X-linked dominant inheritance
nEN-early1	NECAP1	0.659579972	0.000587828	Unclassified	BrainSpLMD|25977	OMIM|611623;HPO|25977|Autosomal recessive inheritance, Decreased fetal movement, Epileptic encephalopathy, Feeding difficulties, Generalized hypotonia, Global developmental delay, Muscular hypotonia of the trunk
nEN-early1	FEZ1	0.611021397	0.000592083	Unclassified	BrainSpLMD|9638;BrainSpMouseDev|87970	OMIM|604825
nEN-early1	TP53I11	0.712096826	0.000611001	Unclassified	BrainSpLMD|9537;Eurexp|euxassay_011840|dorsal root ganglion, glossopharyngeal IX, neural retina, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|93222	
nEN-early1	ARIH1	0.326616134	0.000614382	Ubiquitin proteasome system protein	BrainSpLMD|25820	OMIM|605624
nEN-early1	CLTC	0.491205708	0.000630551	Structural protein	BrainSpLMD|1213	OMIM|118955;COSMIC||ALCL, renal
nEN-early1	TMEM11	0.488458699	0.000650617	Integral membrane protein	BrainSpLMD|8834	
nEN-early1	GPR125	0.390877381	0.000657105			
nEN-early1	PSMD6	0.622260252	0.00065748	Ubiquitin proteasome system protein	BrainSpLMD|9861	
nEN-early1	GDAP1L1	0.716698199	0.000664435	Integral membrane protein	BrainSpLMD|78997;Eurexp|euxassay_011524|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	
nEN-early1	LSM14B	0.420112797	0.000703962	Unclassified	BrainSpLMD|149986	
nEN-early1	INTS12	0.557525427	0.000707476	Transcription regulatory protein	BrainSpLMD|57117	OMIM|611355
nEN-early1	OTUB1	0.395908685	0.000720311	Ubiquitin proteasome system protein	BrainSpLMD|55611	OMIM|608337
nEN-early1	FADS2	0.33369903	0.000740935	Enzyme: Oxidase	BrainSpLMD|9415	OMIM|606149
nEN-early1	GLRB	0.973096929	0.00074382	Intracellular ligand gated channel	BrainSpLMD|2743;BrainSpMouseDev|14434	OMIM|138492;HPO|2743|Autosomal recessive inheritance, Exaggerated startle response, Hypertonia
nEN-early1	FASTKD5	1.048051727	0.000764494	Unclassified	Eurexp|euxassay_004980|4th ventricle, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, hepatic duct, liver, lung, metanephros, molar, naris, olfactory, olfactory lobe, respiratory, spinal cord, submandibular gland primordium, thoracic, thymus primordium, thyroid, tongue, trigeminal V, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	OMIM|614272
nEN-early1	RP11.269F20.1	0.934910268	0.000769074			
nEN-early1	PDCD5	0.586387274	0.000771352	Unclassified	BrainSpLMD|9141	OMIM|604583
nEN-early1	ARHGEF9	0.285785994	0.000777651	Guanine nucleotide exchange factor		SFARI||Autism, 4 - Minimal evidence;OMIM|300429;HPO|23229|Congenital onset, Epileptic encephalopathy, Exaggerated startle response, Hypertonia, Intellectual disability, progressive, Intellectual disability, severe, Seizures, X-linked recessive inheritance
nEN-early1	CDK12	0.289844394	0.000780861	Serine/threonine kinase	BrainSpLMD|51755	OMIM|615514;COSMIC||serous ovarian
nEN-early1	GATAD2B	0.655745269	0.000789415	Transcription regulatory protein	BrainSpLMD|57459	OMIM|614998;HPO|57459|Autosomal dominant inheritance, Blepharophimosis, Broad forehead, Deeply set eye, Hypermetropia, Hypertelorism, Inappropriate laughter, Infantile onset, Long fingers, Long toe, Neonatal hypotonia, Poor speech, Thin upper lip vermilion, Wide mouth, Wide nasal bridge
nEN-early1	BCOR	0.737946503	0.000802555	Transcription regulatory protein	BrainSpLMD|54880;Eurexp|euxassay_013800|incisor, molar, ventricular layer;BrainSpMouseDev|47299	OMIM|300485;COSMIC||retinoblastoma, AML, APL (translocation), Oculo-facio-cardio-dental genetic;HPO|54880|2-3 toe syndactyly, Abnormal palmar dermatoglyphics, Abnormality of dental morphology, Abnormality of the cardiac septa, Abnormality of the pinna, Aganglionic megacolon, Agenesis of maxillary lateral incisor, Aggressive behavior, Anal atresia, Anophthalmia, Aortic valve stenosis, Asymmetry of the ears, Atrial septal defect, Bicuspid aortic valve, Bifid nasal tip, Bifid uvula, Blepharophimosis, Blindness, Broad nasal tip, Broad palm, Camptodactyly, Camptodactyly of finger, Cataract, Chorioretinal coloboma, Ciliary body coloboma, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Complete duplication of thumb phalanx, Congenital cataract, Cryptorchidism, Delayed eruption of teeth, Dental crowding, Dental malocclusion, Down-sloping shoulders, Exotropia, External ear malformation, Finger syndactyly, Flexion contracture of the 2nd toe, Flexion contracture of the 4th toe, Fused teeth, Generalized hypotonia, Glaucoma, Growth delay, Hammertoe, Hearing impairment, High, narrow palate, Hydronephrosis, Hydroureter, Hypospadias, Increased number of teeth, Intellectual disability, Intellectual disability, mild, Iris coloboma, Joint contracture of the hand, Kyphoscoliosis, Laterally curved eyebrow, Long face, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Microcephaly, Microcornea, Microphthalmia, Misalignment of teeth, Mitral valve prolapse, Motor delay, Narrow chest, Narrow face, Oligodontia, Optic nerve coloboma, Oral cleft, Overfolded helix, Patent ductus arteriosus, Pectus excavatum, Persistence of primary teeth, Posteriorly rotated ears, Prominent nasal bridge, Ptosis, Pulmonic stenosis, Pyloric stenosis, Radial deviation of finger, Radioulnar synostosis, Rectal prolapse, Recurrent otitis media, Remnants of the hyaloid vascular system, Renal hypoplasia, Renal hypoplasia/aplasia, Seizures, Self-mutilation, Sensorineural hearing impairment, Septate vagina, Short clavicles, Short stature, Spastic diplegia, Submucous cleft hard palate, Syndactyly, Thick eyebrow, Ventricular septal defect, Visual loss, Webbed neck, X-linked dominant inheritance, X-linked inheritance
nEN-early1	NDUFA6.AS1	0.460789773	0.000861091			
nEN-early1	SUV420H1	0.389024531	0.000867646			
nEN-early1	LPHN1	0.301623109	0.000884573			
nEN-early1	PTPRG	0.655183568	0.000887473	Receptor tyrosine phosphatase	BrainSpLMD|5793	OMIM|176886
nEN-early1	SNORA73	0.581072135	0.000901916			
nEN-early1	ADAM19	0.424212065	0.000907541	Metallo protease	BrainSpLMD|8728;Eurexp|euxassay_002478|bladder, mantle layer;BrainSpMouseDev|11280	OMIM|603640
nEN-early1	NUP160	0.534125353	0.000909129	Transport/cargo protein	BrainSpLMD|23279	OMIM|607614
nEN-early1	TTN.AS1	1.099532757	0.000922221			
nEN-early1	RABGGTB	0.61818729	0.000924817	Enzyme: Prenyltransferase	BrainSpLMD|5876	OMIM|179080
nEN-early1	MCTP1	0.366369353	0.000925635	Calcium binding protein	BrainSpLMD|79772	OMIM|616296
nEN-early1	NARF	0.376113835	0.000942218	Unclassified	BrainSpLMD|26502;Eurexp|euxassay_013636|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, lobe, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|605349
nEN-early1	RPS26P6	0.308903271	0.000945443			
nEN-early1	EIF4E2	1.104947368	0.000947834	Translation regulatory protein	BrainSpLMD|9470	OMIM|605895
nEN-early1	YIPF3	0.502155896	0.000962645	Integral membrane protein	BrainSpLMD|25844	OMIM|609775
nEN-early1	NCAM2	0.940337239	0.000969549	Adhesion molecule	BrainSpLMD|4685;BrainSpMouseDev|17735	OMIM|602040
nEN-early1	MEX3B	0.649006557	0.000976115	Ubiquitin proteasome system protein	BrainSpLMD|84206	OMIM|611008
nEN-early1	UBA52	0.401764603	0.000980294	Ribosomal subunit	BrainSpLMD|7311	OMIM|191321
nEN-early1	PTMAP5	0.324972587	0.000993731			
nEN-early1	GTF2IRD1	0.968194666	0.001005323	Transcription factor	BrainSpLMD|9569;Eurexp|euxassay_019650|axial skeleton, choroid plexus, lung, oesophagus, pituitary, submandibular gland primordium, vibrissa;BrainSpMouseDev|36358	OMIM|604318;HPO|9569|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the neck, Anxiety, Arthralgia, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad forehead, Cerebral ischemia, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Dental malocclusion, Depressivity, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Epicanthus, Everted lower lip vermilion, Failure to thrive in infancy, Gait imbalance, Genu valgum, Hallux valgus, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Inguinal hernia, Insomnia, Intellectual disability, Joint stiffness, Kyphosis, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Microcephaly, Microdontia, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Open bite, Overfriendliness, Pelvic kidney, Periorbital edema, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Proteinuria, Protruding ear, Pulmonic stenosis, Redundant skin, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Visual impairment, Wide mouth, Wide nasal bridge
nEN-early1	PIK3C2B	0.265248538	0.001014467	Lipid Kinase	BrainSpLMD|5287	OMIM|602838
nEN-early1	ACTR2	0.478067236	0.001014897	Cytoskeletal protein	BrainSpLMD|10097	OMIM|604221
nEN-early1	PDHA1	0.597713548	0.00101596	Enzyme: Dehydrogenase	BrainSpLMD|5160	OMIM|300502;HPO|5160|Abnormality of eye movement, Agenesis of corpus callosum, Anteverted nares, Apneic episodes precipitated by illness, fatigue, stress, Basal ganglia cysts, Cerebral atrophy, Choreoathetosis, Chronic lactic acidosis, Decreased activity of the pyruvate dehydrogenase complex, Dystonia, Episodic ataxia, Flared nostrils, Frontal bossing, Generalized hypotonia, Global developmental delay, Hyperalaninemia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lethargy, Long philtrum, Microcephaly, Phenotypic variability, Ptosis, Seizures, Severe lactic acidosis, Small for gestational age, Ventriculomegaly, Wide nasal bridge, X-linked dominant inheritance
nEN-early1	SETD3	0.891155511	0.001024535	Enzyme: Methyltransferase	BrainSpLMD|84193	OMIM|615671
nEN-early1	SLC25A14	0.285323438	0.001052882	Integral membrane protein	BrainSpLMD|9016;Eurexp|euxassay_004145|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, glossopharyngeal IX, hindbrain, midbrain, spinal cord, telencephalon, trigeminal V	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300242
nEN-early1	DCTN3	0.92158595	0.001078503	Cell cycle control protein	BrainSpLMD|11258	OMIM|607387
nEN-early1	FAM96A	0.255371092	0.001083378	Unclassified	BrainSpLMD|84191;Eurexp|euxassay_006563|liver	
nEN-early1	CACNA2D1	0.634830683	0.001100351	Voltage gated channel	BrainSpLMD|781;Eurexp|euxassay_006438|dorsal grey horn, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, pituitary, skeletal muscle, trigeminal V, ventral grey horn, vertebral axis muscle system;BrainSpMouseDev|12078	OMIM|114204;HPO|781|Atrial fibrillation, Bradycardia, Palpitations, Shortened QT interval
nEN-early1	PTOV1	0.381263873	0.001100882	Cell cycle control protein	BrainSpLMD|53635	OMIM|610195
nEN-early1	ARFGAP2	0.794224945	0.001104125	GTPase activating protein	BrainSpLMD|84364	OMIM|606908
nEN-early1	DUSP12	0.339749079	0.001113833	Dual specificity phosphatase	BrainSpLMD|11266	OMIM|604835
nEN-early1	SNX4	0.679743359	0.001132255	Transport/cargo protein	BrainSpLMD|8723	OMIM|605931
nEN-early1	AC068522.4	0.588495275	0.001146162			
nEN-early1	TRAPPC1	0.751577986	0.001146944	Transport/cargo protein	BrainSpLMD|58485	OMIM|610969
nEN-early1	SREBF2	0.389826193	0.001153537	Transcription factor	BrainSpLMD|6721;BrainSpMouseDev|20550	OMIM|600481
nEN-early1	MEGF9	0.533099273	0.001156525	Calcium binding protein	BrainSpLMD|1955	OMIM|604268
nEN-early1	AC007740.1	0.300950035	0.0011675			
nEN-early1	PRKCA	0.351447682	0.001172627	Serine/threonine kinase	BrainSpLMD|5578	OMIM|176960
nEN-early1	MBOAT2	0.498570463	0.001180175	Unclassified	BrainSpLMD|129642	OMIM|611949
nEN-early1	KBTBD2	0.541374106	0.00122402	Cytoskeletal associated protein	BrainSpLMD|25948	
nEN-early1	USO1	0.436749974	0.001230672	Transport/cargo protein	BrainSpLMD|8615	OMIM|603344
nEN-early1	STT3B	0.328166503	0.001237813	Integral membrane protein	BrainSpLMD|201595	OMIM|608605;HPO|201595|Abnormal glycosylation, Autosomal recessive inheritance, Cerebellar atrophy, Congenital onset, Cryptorchidism, Death in childhood, Decreased liver function, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Microcephaly, Micropenis, Optic atrophy, Respiratory distress, Scrotal hypoplasia, Seizures, Thrombocytopenia
nEN-early1	DCAF7	0.375439274	0.001339869	Unclassified	BrainSpLMD|10238;BrainSpMouseDev|47674	OMIM|605973
nEN-early1	PSMD13	0.732558422	0.001342927	Ubiquitin proteasome system protein	BrainSpLMD|5719;Eurexp|euxassay_009532|trunk mesenchyme, ventricular layer	OMIM|603481
nEN-early1	GPR56	0.315056115	0.001353661			
nEN-early1	PTGR1	1.003732966	0.001365706	Enzyme: Dehydrogenase	BrainSpLMD|22949	OMIM|601274
nEN-early1	IRGQ	0.328905952	0.001366164	Unclassified		
nEN-early1	ELOVL6	0.366429716	0.001377879	Unclassified	BrainSpLMD|79071;Eurexp|euxassay_007796|embryo	OMIM|611546
nEN-early1	CCT8	0.412625252	0.001389421	Chaperone	BrainSpLMD|10694	OMIM|617786
nEN-early1	HCFC1R1	0.361193584	0.001428737	Transport/cargo protein	BrainSpLMD|54985;Eurexp|euxassay_013570|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, vagus X, ventral grey horn	
nEN-early1	MSANTD4	0.84437562	0.001429338	Unclassified	BrainSpLMD|84437;Eurexp|euxassay_009273|embryo	
nEN-early1	EIF3K	0.346743255	0.001430764	Translation regulatory protein	BrainSpLMD|27335	OMIM|609596
nEN-early1	FOXG1.AS1	0.824177545	0.001433572			
nEN-early1	BAZ2A	0.375059539	0.001467551	Transcription regulatory protein	BrainSpLMD|11176	OMIM|605682
nEN-early1	RAPGEF1	0.62456511	0.001471719	Guanine nucleotide exchange factor	BrainSpLMD|2889;BrainSpMouseDev|71908	OMIM|600303
nEN-early1	SHISA5	0.427268056	0.001479674	Integral membrane protein	BrainSpLMD|51246	OMIM|607290
nEN-early1	HSD17B7	0.744649975	0.00148074	Enzyme: Dehydrogenase	Eurexp|euxassay_000551|dorsal root ganglion, marginal layer, neural retina, spleen primordium, testis	OMIM|606756
nEN-early1	TSR1	0.520322509	0.00150755	Unclassified	BrainSpLMD|55720	OMIM|611214
nEN-early1	SF3B3	0.488008786	0.001509352	RNA binding protein	BrainSpLMD|23450	OMIM|605592
nEN-early1	ACTR1A	0.633168333	0.001512082	Cytoskeletal protein	BrainSpLMD|10121;Eurexp|euxassay_006567|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605143
nEN-early1	STX7	0.620250559	0.00151584	Integral membrane protein	BrainSpLMD|8417;Eurexp|euxassay_011674|cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|603217
nEN-early1	LAMB1	0.339386294	0.001563823	Extracellular matrix protein	BrainSpLMD|3912;Eurexp|euxassay_011018|cochlea, incisor, lung, meninges, metanephros, midgut, molar, pharyngo-tympanic tube, renal/urinary system, sublingual gland primordium, submandibular gland primordium, vibrissa;BrainSpMouseDev|16549	SFARI||Autism, 3 - Suggestive evidence;OMIM|150240;HPO|3912|Abnormality of the cerebral white matter, Autosomal recessive inheritance, Cerebellar hypoplasia, Generalized hypotonia, Gray matter heterotopias, Hydrocephalus, Hypoplasia of the brainstem, Intellectual disability, Leukoencephalopathy, Macrocephaly, Muscular hypotonia, Occipital encephalocele, Porencephalic cyst, Progressive, Seizures, Severe global developmental delay, Spastic paraplegia, Type II lissencephaly, Variable expressivity
nEN-early1	SUZ12P1	0.619087437	0.001574748		BrainSpLMD|440423	
nEN-early1	TTL	0.385960337	0.001587431	Enzyme: Ligase	BrainSpLMD|150465;Eurexp|euxassay_003613|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, ventral grey horn	OMIM|608291
nEN-early1	WWP1	0.497998974	0.001595724	Ubiquitin proteasome system protein	BrainSpLMD|11059	OMIM|602307
nEN-early1	GTF3C1	0.928570698	0.001616667	Transcription factor	BrainSpLMD|2975;Eurexp|euxassay_015927|submandibular gland primordium;BrainSpMouseDev|87736	OMIM|603246
nEN-early1	PPP6C	0.688913573	0.001622266	Serine/threonine phosphatase	BrainSpLMD|5537	OMIM|612725;COSMIC||melanoma
nEN-early1	C19orf43	0.624783385	0.00162791			
nEN-early1	CDK19	0.547108918	0.00162907	Serine/threonine kinase	BrainSpLMD|23097	OMIM|614720
nEN-early1	OSBPL10	1.491819395	0.00165649	Transport/cargo protein	BrainSpLMD|114884;Eurexp|euxassay_008182|dorsal root ganglion, glossopharyngeal IX, mantle layer, testis, trigeminal V, ventral grey horn	OMIM|606738
nEN-early1	GNB1	0.421200053	0.001665103	G protein	BrainSpLMD|2782	OMIM|139380;HPO|2782|Acute lymphoblastic leukemia, Autosomal dominant inheritance, EEG abnormality, Failure to thrive, Generalized hypotonia, Global developmental delay, Impaired smooth pursuit, Infantile onset, Intellectual disability, Limb hypertonia, Nystagmus, Polygenic inheritance, Seizures, Strabismus
nEN-early1	SMIM13	0.474782082	0.001665904			
nEN-early1	EXTL3	0.762928143	0.001695382	Enzyme: Glucosaminyltransferase	BrainSpLMD|2137;Eurexp|euxassay_008608|cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, pancreas, pharyngo-tympanic tube, sublingual gland primordium, submandibular gland primordium, trigeminal V, vagus X, valve, vestibulocochlear VIII	OMIM|605744;HPO|2137|Autosomal recessive inheritance, Brachydactyly, Broad nasal tip, Coarse facial features, Coxa valga, Decreased antibody level in blood, Delayed ossification of carpal bones, Depressed nasal bridge, Dislocated radial head, Disproportionate short stature, Eosinophilia, Epiphyseal dysplasia, Full cheeks, Hypoplasia of the capital femoral epiphysis, Intellectual disability, Kyphoscoliosis, Metaphyseal dysplasia, Motor delay, Narrow greater sacrosciatic notches, Platyspondyly, Prominent nose, Recurrent infections, Single transverse palmar crease
nEN-early1	SOGA1	0.307795435	0.001709854	Unclassified	BrainSpLMD|140710	
nEN-early1	UBE2W	0.324562765	0.001711017	Ubiquitin proteasome system protein	BrainSpLMD|55284	OMIM|614277
nEN-early1	XPO4	0.351217451	0.001746142	Transport/cargo protein	BrainSpLMD|64328	OMIM|611449
nEN-early1	NYAP1	0.843463568	0.001753548	Unclassified	BrainSpLMD|222950;Eurexp|euxassay_014706|alar plate, basal plate, brain, central nervous system, cerebellum, cerebral cortex, corpus striatum, diencephalon, dorsal root ganglion, facial VII, ganglion, glossopharyngeal IX, hindbrain, lateral wall, mantle layer, marginal layer, midbrain, neural retina, nuclear layer, nucleus pulposus, rest of alar plate, rest of cerebellum, spinal cord, sulcus limitans, tegmentum, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|615477
nEN-early1	RP11.999E24.3	0.400530024	0.001755313			
nEN-early1	UBE2D1	0.614322615	0.001757674	Ubiquitin proteasome system protein	BrainSpLMD|7321;Eurexp|euxassay_002231|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, urethra	OMIM|602961
nEN-early1	CCNT2	0.368128224	0.001773516	Transcription regulatory protein	BrainSpLMD|905	OMIM|603862
nEN-early1	TSN	0.513030487	0.001776587	DNA binding protein	BrainSpLMD|7247	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600575
nEN-early1	LDB1	1.011419926	0.001777959	Transcription regulatory protein	BrainSpLMD|8861;BrainSpMouseDev|16596	OMIM|603451
nEN-early1	ARL14EP	0.385949604	0.001800674	Unclassified	Eurexp|euxassay_012294|olfactory, ventricular layer	OMIM|612295
nEN-early1	SECISBP2	0.39297249	0.001827222	RNA binding protein	BrainSpLMD|79048	OMIM|607693;HPO|79048|Autosomal recessive inheritance, Delayed skeletal maturation, Increased thyroid-stimulating hormone level
nEN-early1	AP1AR	0.948275433	0.00187219	Unclassified	BrainSpLMD|55435	OMIM|610851
nEN-early1	CCDC152	0.671490889	0.001884894	Unclassified		
nEN-early1	NOL4	0.684492452	0.001891456	Unclassified	BrainSpLMD|8715;Eurexp|euxassay_008266|brain, neural retina, olfactory, spinal cord	OMIM|603577
nEN-early1	VCPIP1	0.632754087	0.001963507	Ubiquitin proteasome system protein	BrainSpLMD|80124	OMIM|611745
nEN-early1	GNAZ	0.920248142	0.001964988	G protein	BrainSpLMD|2781;Eurexp|euxassay_001214|dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|139160
nEN-early1	NGRN	0.321055218	0.001997573	Unclassified		OMIM|616718
nEN-early1	C1orf43	0.267558215	0.002001666	Unclassified	BrainSpLMD|25912	OMIM|617428
nEN-early1	FAM188A	1.085950659	0.002029557			
nEN-early1	KIAA1429	0.332675815	0.002032715			
nEN-early1	NDUFS3	0.529530552	0.002044482	Enzyme: Dehydrogenase	BrainSpLMD|4722;Eurexp|euxassay_018915|liver, midgut, orbito-sphenoid, pancreas, submandibular gland primordium, testis, thymus primordium	OMIM|603846;HPO|4722|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, CNS demyelination, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Dysarthria, Dystonia, Emotional lability, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Gliosis, Global developmental delay, Growth delay, Hepatic failure, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Phenotypic variability, Pigmentary retinopathy, Progressive, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
nEN-early1	LINC00657	0.253120537	0.002046694			
nEN-early1	LINC00632	0.481763729	0.002046839			
nEN-early1	RP11.101E13.5	0.341210109	0.002077667			
nEN-early1	CASC10	0.845807357	0.00207955	Unclassified		
nEN-early1	DAPK1	0.279790981	0.002088683	Serine/threonine kinase	BrainSpLMD|1612	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600831
nEN-early1	ATAD2B	0.36284572	0.002100655	ATPase	BrainSpLMD|54454	OMIM|615347
nEN-early1	NDUFAF5	1.011732345	0.002110461	Unclassified	BrainSpLMD|79133	OMIM|612360;HPO|79133|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
nEN-early1	XRN2	0.460450283	0.002125932	Ribonuclease	BrainSpLMD|22803	OMIM|608851
nEN-early1	SPATS2	0.28224115	0.002127787	Unclassified	BrainSpLMD|65244	OMIM|611667
nEN-early1	RHBDD2	0.505231614	0.002131975	Integral membrane protein	BrainSpLMD|57414	OMIM|615203
nEN-early1	SPDYA	0.328854334	0.002135711	Cell cycle control protein	BrainSpLMD|245711	OMIM|614029
nEN-early1	MAPRE2	0.406663655	0.002184945	Cytoskeletal associated protein	BrainSpLMD|10982;Eurexp|euxassay_007836|cervical, cervico-thoracic, dorsal root ganglion, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|605789;HPO|10982|Autosomal dominant inheritance, Broad neck, Carious teeth, Cleft palate, Cryptorchidism, Delayed speech and language development, Downslanted palpebral fissures, Edema, Epicanthus, Flat face, Generalized hypotonia, Hypoplasia of the corpus callosum, Hypospadias, Increased number of skin folds, Irregular hyperpigmentation, Low-set ears, Microcornea, Micrognathia, Microphthalmia, Microtia, Motor delay, Narrow mouth, Posteriorly rotated ears, Scrotal hypoplasia, Seizures, Short neck, Short palpebral fissure, Thickened skin, Upslanted palpebral fissure
nEN-early1	ICE1	0.685110895	0.002187163	Unclassified		
nEN-early1	LINC00863	0.52710726	0.002190633			
nEN-early1	SEC61B	0.316048425	0.002208124	Membrane transport protein		OMIM|609214
nEN-early1	C9orf78	0.308904119	0.002331609	Unclassified	BrainSpLMD|51759	
nEN-early1	MRPL13	0.433678813	0.002383162	Ribosomal subunit	BrainSpLMD|28998;Eurexp|euxassay_003941|submandibular gland primordium, ventricular layer	OMIM|610200
nEN-early1	LINGO1	0.578846621	0.002438107	Unclassified	BrainSpLMD|84894	OMIM|609791
nEN-early1	STMN3	0.604408259	0.002452829	Unclassified	BrainSpLMD|50861;Eurexp|euxassay_018065|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, cochlear component, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, hindgut, hip, humerus, inferior, mantle layer, marginal layer, neural retina, olfactory, orbito-sphenoid, radius, retina, rib, scapula, superior, temporal bone, tibia, trigeminal V, vagus X, ventral grey horn, vestibular component	OMIM|608362
nEN-early1	NME1	0.437978041	0.002464381	Enzyme: Phosphotransferase	BrainSpLMD|4830	OMIM|156490;HPO|4830|Abdominal pain, Abnormality of the thorax, Anemia, Ataxia, Autosomal dominant inheritance, Bone pain, Diarrhea, Elevated urinary dopamine, Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Failure to thrive, Fever, Ganglioneuroblastoma, Ganglioneuroma, Heterogeneous, Horner syndrome, Hypertension, Incomplete penetrance, Myoclonus, Neuroblastoma, Opsoclonus, Skin nodule, Spinal cord compression, Sporadic, Weight loss
nEN-early1	FAM120B	0.766211238	0.002466849	Unclassified	BrainSpLMD|84498	OMIM|612266
nEN-early1	KIAA2022	0.997801914	0.002491532			SFARI||Autism, 3 - Suggestive evidence
nEN-early1	PHRF1	0.583941844	0.002492971	Unclassified		SFARI||Autism, 3 - Suggestive evidence;OMIM|611780
nEN-early1	CALM3	0.704847103	0.002540767	Calcium binding protein	BrainSpLMD|808	OMIM|114183;HPO|808|Ventricular tachycardia, Vertigo
nEN-early1	SSH2	0.849716668	0.002595052	Dual specificity phosphatase	BrainSpLMD|85464	OMIM|606779
nEN-early1	ATP5S	0.349184774	0.002600911	Unclassified	BrainSpLMD|27109	
nEN-early1	SMARCD1	0.328477681	0.002633847	Transcription regulatory protein	BrainSpLMD|6602	OMIM|601735;COSMIC||breast
nEN-early1	POLR2B	0.422975636	0.002638047	RNA polymerase	BrainSpLMD|5431;Eurexp|euxassay_019551|incisor, liver, lung, metanephros, midgut, molar, neural retina, olfactory, pancreas, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|87230	OMIM|180661
nEN-early1	CBL	0.412905683	0.002651865	Ubiquitin proteasome system protein	BrainSpLMD|867	OMIM|165360;COSMIC||AML, JMML, MDS;HPO|867|Aortic valve stenosis, Autosomal dominant inheritance, Bicuspid aortic valve, Cafe-au-lait spot, Cryptorchidism, Cubitus valgus, Deep philtrum, Delayed speech and language development, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Fine hair, Frontal bossing, Generalized hypotonia, Global developmental delay, Hypertelorism, Joint hypermobility, Joint laxity, Juvenile myelomonocytic leukemia, Long philtrum, Low-set ears, Macrotia, Mitral regurgitation, Pectus excavatum, Phenotypic variability, Posteriorly rotated ears, Ptosis, Short neck, Somatic mutation, Sparse hair, Thick vermilion border, Triangular face, Webbed neck, Wide intermamillary distance
nEN-early1	APC2	0.313979619	0.002668886	Transcription regulatory protein	BrainSpLMD|10297;Eurexp|euxassay_007719|Meckel's cartilage, axial skeleton, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, rib, scapula, spinal cord, thoracic, tibia, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|23558	OMIM|612034;HPO|10297|Abnormality of immune system physiology, Accelerated skeletal maturation, Advanced eruption of teeth, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Conductive hearing impairment, Depressed nasal ridge, Dolichocephaly, Downslanted palpebral fissures, Feeding difficulties in infancy, Frontal bossing, Global developmental delay, High forehead, High palate, Hyperactivity, Hypertelorism, Hypoglycemia, Intellectual disability, Long face, Macrocephaly, Macrotia, Mandibular prognathia, Muscular hypotonia, Obesity, Poor speech, Precocious puberty, Prominent forehead, Prominent nose, Relative macrocephaly, Tall stature, Ventriculomegaly
nEN-early1	ACTBP2	0.412581165	0.002711577			
nEN-early1	RAB3C	0.842463247	0.002741357	GTPase	BrainSpLMD|115827;Eurexp|euxassay_009433|brain, dorsal root ganglion, olfactory, spinal cord	OMIM|612829
nEN-early1	GABRB3	0.464881777	0.002749835	Extracellular ligand gated channel	BrainSpLMD|2562;Eurexp|euxassay_008367|brain, facial VII, glossopharyngeal IX, mandible, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|14178	SFARI||Autism, 2 - Strong candidate;OMIM|137192;HPO|2562|Abnormality of brainstem morphology, Aggressive behavior, Ataxia, Atonic seizures, Atypical absence seizures, Autistic behavior, Autosomal dominant inheritance, Dyskinesia, EEG with focal sharp slow waves, Encephalopathy, Epileptic encephalopathy, Falls, Generalized hypotonia, Generalized tonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Hyperactivity, Infantile onset, Intellectual disability, Mental deterioration, Myoclonus, Personality disorder, Seizures
nEN-early1	TRIB2	0.382834214	0.002782305	Serine/threonine kinase	BrainSpLMD|28951;BrainSpMouseDev|85202	OMIM|609462
nEN-early1	IFT122	0.593184213	0.002829655	Unclassified	BrainSpLMD|55764;Eurexp|euxassay_011142|choroid plexus, dorsal root ganglion, metanephros, olfactory, pituitary, testis	OMIM|606045;HPO|55764|Abnormal diaphysis morphology, Abnormal toenail morphology, Abnormality of the abdominal wall, Abnormality of the fingernails, Abnormality of the metaphysis, Anodontia, Anteverted nares, Autosomal recessive inheritance, Bicuspid aortic valve, Brachydactyly, Broad distal phalanges of all fingers, Broad toe, Chronic kidney disease, Clinodactyly, Craniosynostosis, Dolichocephaly, Ectodermal dysplasia, Epicanthus, Everted lower lip vermilion, Fibular hypoplasia, Fine hair, Finger syndactyly, Flattened epiphysis, Frontal bossing, Full cheeks, Hepatic cysts, Hepatic failure, Hepatic fibrosis, Hepatomegaly, High, narrow palate, Hypocalcemia, Hypodontia, Hypoplasia of dental enamel, Hypotelorism, Joint hyperflexibility, Joint laxity, Malformation of the hepatic ductal plate, Microdontia, Myopia, Narrow chest, Nystagmus, Osteoporosis, Pectus excavatum, Prominent occiput, Protuberant abdomen, Radial deviation of finger, Renal magnesium wasting, Retinal dystrophy, Rhizomelia, Sagittal craniosynostosis, Scaphocephaly, Short distal phalanx of finger, Short humerus, Short nail, Short ribs, Short toe, Single transverse palmar crease, Slow-growing hair, Sparse hair, Telecanthus, Thin nail, Tubulointerstitial nephritis, Wide nasal bridge, Widely spaced teeth
nEN-early1	C1orf21	0.376159692	0.002836681	Unclassified	BrainSpLMD|81563;Eurexp|euxassay_004907|adrenal gland, brain, dorsal root ganglion, glossopharyngeal IX, limb, lung, metanephros, midgut, olfactory, otic capsule, pharyngo-tympanic tube, pituitary, respiratory, retina, spinal cord, sternum, stomach, tail, thymus primordium, trigeminal V, vestibulocochlear VIII, vibrissa	
nEN-early1	AGPAT4	0.89285596	0.002844886	Enzyme: Acyltransferase	BrainSpLMD|56895	OMIM|614795
nEN-early1	CBX6	0.426420857	0.002850048	DNA binding protein	BrainSpLMD|23466	OMIM|617438
nEN-early1	MTMR12	0.632613798	0.002880663	Adapter molecule	BrainSpLMD|54545	OMIM|606501
nEN-early1	CALCOCO1	0.840048123	0.002909595	Transcription regulatory protein	BrainSpLMD|57658;Eurexp|euxassay_006214|thymus primordium	
nEN-early1	ICK	0.638830211	0.002941548	Serine/threonine kinase	BrainSpLMD|22858	OMIM|612325;HPO|22858|Abnormality of the pinna, Adrenal hypoplasia, Ambiguous genitalia, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Barrel-shaped chest, Brachydactyly, Cleft palate, Cleft upper lip, Cryptorchidism, Depressed nasal tip, Holoprosencephaly, Hydrocephalus, Hypospadias, Low-set ears, Malar flattening, Micrognathia, Micromelia, Micropenis, Microphallus, Midface retrusion, Postaxial polydactyly, Sandal gap, Scrotal hypoplasia, Shield chest, Syndactyly, Ulnar deviation of the hand, Ventriculomegaly, Wide intermamillary distance, Wide nasal bridge
nEN-early1	UBE2L3	0.382228662	0.002971314	Ubiquitin proteasome system protein	BrainSpLMD|7332	OMIM|603721
nEN-early1	RGAG4	0.29418564	0.003009038			
nEN-early1	YTHDF3	0.355363366	0.003034134	Unclassified	BrainSpLMD|253943	
nEN-early1	TANK	0.84440358	0.003040817	Adapter molecule	BrainSpLMD|10010;Eurexp|euxassay_010622|mandible, maxilla, submandibular gland primordium	OMIM|603893
nEN-early1	DHCR7	1.113675627	0.003062108	Enzyme: Reductase	BrainSpLMD|1717;Eurexp|euxassay_015508|adrenal gland, neural retina, stroma	SFARI||Autism, No category;OMIM|602858;HPO|1717|2-3 toe syndactyly, Abnormal dermatoglyphics, Abnormal lung lobation, Abnormality of dental morphology, Abnormality of the larynx, Abnormality of the metacarpal bones, Aganglionic megacolon, Aggressive behavior, Ambiguous genitalia, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Atrial septal defect, Atrioventricular canal defect, Attention deficit hyperactivity disorder, Autism, Autosomal recessive inheritance, Bicornuate uterus, Bifid scrotum, Biparietal narrowing, Breech presentation, Broad alveolar ridges, Cataract, Cholestatic liver disease, Cleft palate, Clitoral hypertrophy, Coarctation of aorta, Constipation, Cryptorchidism, Cutaneous photosensitivity, Cutis marmorata, Dandy-Walker malformation, Decreased fetal movement, Dental crowding, Depressed nasal bridge, Eczema, Elevated 7-dehydrocholesterol, Epicanthus, Epiphyseal stippling, Excessive daytime somnolence, Facial capillary hemangioma, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Gastrointestinal dysmotility, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hammertoe, Hearing impairment, Hip dislocation, Hip subluxation, Holoprosencephaly, Hydrocephalus, Hydronephrosis, Hyperactivity, Hypertelorism, Hypertonia, Hypocholesterolemia, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Hypospadias, Increased nuchal translucency, Intellectual disability, Intestinal malrotation, Intrauterine growth retardation, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Metatarsus adductus, Microcephaly, Microglossia, Micrognathia, Micromelia, Micropenis, Muscular hypotonia, Narrow forehead, Nystagmus, Overlapping toe, Patent ductus arteriosus, Periventricular gray matter heterotopia, Polyhydramnios, Poor suck, Postaxial foot polydactyly, Postaxial hand polydactyly, Posteriorly rotated ears, Precocious puberty, Premature birth, Proximal placement of thumb, Ptosis, Pulmonary hypoplasia, Pyloric stenosis, Recurrent infections, Recurrent otitis media, Renal agenesis, Renal cyst, Renal hypoplasia, Scrotal hypoplasia, Seizures, Self-injurious behavior, Self-mutilation, Septate vagina, Severe photosensitivity, Short neck, Short stature, Short thumb, Short toe, Sleep-wake cycle disturbance, Strabismus, Talipes calcaneovalgus, Tracheal stenosis, Ureteropelvic junction obstruction, Ventricular septal defect, Ventriculomegaly, Vomiting, Wide intermamillary distance, Wide mouth, Wide nasal bridge
nEN-early1	ACAT1	0.701444645	0.003085029	Enzyme: Acyltransferase	BrainSpLMD|38	OMIM|607809;HPO|38|Autosomal recessive inheritance, Dehydration, Episodic ketoacidosis, Intellectual disability, Vomiting
nEN-early1	ZSCAN2	0.98066697	0.003093721	Transcription regulatory protein	BrainSpLMD|54993	
nEN-early1	EPC2	0.547034511	0.003096092	Unclassified	BrainSpLMD|26122	SFARI||Autism, 4 - Minimal evidence;OMIM|611000
nEN-early1	REEP1	0.564633661	0.003105203	Unclassified	BrainSpLMD|65055;Eurexp|euxassay_005277|brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, skeletal muscle, spinal cord, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|609139;HPO|65055|Ankle clonus, Areflexia, Autosomal dominant inheritance, Babinski sign, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Hyporeflexia, Lower limb muscle weakness, Pes cavus, Skeletal muscle atrophy, Spastic gait, Spastic paraplegia, Variable expressivity
nEN-early1	NOVA1	0.400413866	0.003166782	RNA binding protein	BrainSpLMD|4857	OMIM|602157
nEN-early1	C3orf65	0.78109931	0.003170282			
nEN-early1	UCK2	0.647273673	0.003179619	Enzyme: Phosphotransferase	BrainSpLMD|7371;Eurexp|euxassay_002578|axial muscle, incisor, neural retina, orbito-sphenoid, pectoral girdle and thoracic body wall, stroma, submandibular gland primordium, thymus primordium, vibrissa	OMIM|609329
nEN-early1	FAM96B	0.532212879	0.00322003	Unclassified	BrainSpLMD|51647	OMIM|614778
nEN-early1	MTHFD1	0.382000617	0.003259256	Enzyme: Dehydrogenase	BrainSpLMD|4522;Eurexp|euxassay_004845|axial muscle, fundus, incisor, left, left lung, lumen, molar, oesophagus, pancreas, right, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|172460
nEN-early1	ARPC4	0.315613939	0.003334275	Cytoskeletal associated protein	Eurexp|euxassay_002361|dorsal root ganglion	OMIM|604226
nEN-early1	SSU72	0.409122	0.003368095	Unclassified	BrainSpLMD|29101	OMIM|617680
nEN-early1	PSMA7	0.339461054	0.003428453	Ubiquitin proteasome system protein	BrainSpLMD|5688	OMIM|606607
nEN-early1	GMFB	0.281884557	0.003474506	Growth factor	BrainSpLMD|2764	OMIM|601713
nEN-early1	SGTB	0.910123508	0.003497402	Unclassified	BrainSpLMD|54557;Eurexp|euxassay_015692|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	
nEN-early1	HSD17B12	0.412595142	0.003499945	Enzyme: Dehydrogenase	BrainSpLMD|51144	OMIM|609574
nEN-early1	CCT2	0.427688887	0.003504405	Chaperone	BrainSpLMD|10576	OMIM|605139
nEN-early1	ZNF644	0.421842168	0.003512058	DNA binding protein	BrainSpLMD|84146	OMIM|614159;HPO|84146|Autosomal dominant inheritance, Severe Myopia
nEN-early1	MRPS15	1.13018756	0.003513073	Ribosomal subunit	BrainSpLMD|64960;Eurexp|euxassay_002880|basal plate, dorsal root ganglion, submandibular gland primordium, trigeminal V	OMIM|611979
nEN-early1	RP11.212F11.1	0.938975746	0.003524796			
nEN-early1	CREB3	1.265771049	0.003591216	Transcription factor	BrainSpLMD|10488;Eurexp|euxassay_004843|clavicle, dorsal root ganglion, glossopharyngeal IX, mandible, maxilla, medulla, orbito-sphenoid, rib, trigeminal V;BrainSpMouseDev|12696	OMIM|606443
nEN-early1	ZC3H14	0.434375267	0.003593453	RNA binding protein	BrainSpLMD|79882	OMIM|613279;HPO|79882|Autosomal recessive inheritance, Intellectual disability
nEN-early1	SNHG3	0.671076739	0.003617234			OMIM|603238
nEN-early1	RAI14	0.31258498	0.003668814	Unclassified	BrainSpLMD|26064;Eurexp|euxassay_015953|axial muscle, clavicle, floor plate, floorplate, incisor, lung, mandible, maxilla, metanephros, orbito-sphenoid, palatal shelf, penis, physiological umbilical hernia, rib, roof plate, turbinate, ventricular layer	OMIM|606586
nEN-early1	RP11.121G22.3	0.703110806	0.003729264			
nEN-early1	ZNF430	0.534258378	0.003747225	DNA binding protein		
nEN-early1	ZFP91	0.58996229	0.003795669	Transcription factor	BrainSpLMD|80829	
nEN-early1	ATP6V1G2	0.537606405	0.003817768	ATPase	Eurexp|euxassay_002941|basal plate, facial VII, glossopharyngeal IX, lateral wall, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|606853
nEN-early1	CSNK1G1	0.451818726	0.003888232	Serine/threonine kinase	BrainSpLMD|53944;BrainSpMouseDev|84736	OMIM|606274
nEN-early1	ARHGEF3	1.195019571	0.003891301	Guanine nucleotide exchange factor	BrainSpLMD|50650	OMIM|612115
nEN-early1	AL133243.1	0.464907759	0.003891438			
nEN-early1	SLC22A17	0.379511235	0.003906018	Transport/cargo protein	BrainSpLMD|51310	OMIM|611461
nEN-early1	EXOSC5	0.617474932	0.00393338	Ribonuclease	BrainSpLMD|56915	OMIM|606492
nEN-early1	PFKM	0.386475521	0.004045727	Enzyme: Phosphotransferase	BrainSpLMD|5213;Eurexp|euxassay_018474|dorsal root ganglion, mantle layer, trigeminal V, vagus X, ventral grey horn, ventricular layer	OMIM|610681;HPO|5213|Anemia, Autosomal recessive inheritance, Cholelithiasis, Exercise intolerance, Exercise-induced muscle cramps, Exercise-induced myoglobinuria, Gout, Hemolytic anemia, Hyperuricemia, Increased muscle glycogen content, Increased total bilirubin, Jaundice, Muscle weakness, Myotonia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis, Skeletal muscle atrophy, Variable expressivity
nEN-early1	SETBP1	0.500023542	0.004065637	Transcription regulatory protein	BrainSpLMD|26040	SFARI||Autism, 3 - Suggestive evidence;OMIM|611060;COSMIC||aCML, sAML, MDS/MPN-U, CMML, JMML, neuroepithelial tumours;HPO|26040|Abnormality of the nasopharynx, Absent speech, Anteverted nares, Aplasia/Hypoplasia of the pubic bone, Atrial septal defect, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bicornuate uterus, Brachycephaly, Broad ribs, Cerebral atrophy, Choanal stenosis, Coarse facial features, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Facial hemangioma, Failure to thrive, Hepatoblastoma, High forehead, High palate, Hydronephrosis, Hydroureter, Hyperconvex nail, Hypertelorism, Hypertrichosis, Hypoplasia of first ribs, Hypoplasia of the corpus callosum, Hypoplastic labia majora, Hypoplastic labia minora, Hypoplastic nipples, Hypospadias, Hypsarrhythmia, Increased density of long bones, Intellectual disability, Long clavicles, Long face, Low-set ears, Macroglossia, Malar flattening, Metopic suture patent to nasal root, Micropenis, Midface retrusion, Motor delay, Narrow palate, Opisthotonus, Pointed chin, Postaxial hand polydactyly, Postnatal growth retardation, Prominent forehead, Ptosis, Sacrococcygeal teratoma, Sclerosis of skull base, Scrotal hypoplasia, Seizures, Shallow orbits, Short 1st metacarpal, Short distal phalanx of finger, Short neck, Short nose, Short sternum, Single transverse palmar crease, Sloping forehead, Synophrys, Talipes equinovarus, Thickened cortex of long bones, Thin upper lip vermilion, Tibial bowing, Ureteral stenosis, Ventriculomegaly, Wide distal femoral metaphysis, Widely patent fontanelles and sutures, Wormian bones
nEN-early1	ATP5F1	0.343505028	0.004145402			
nEN-early1	PNMA1	0.302129162	0.004175251	Unclassified	BrainSpLMD|9240	OMIM|604010
nEN-early1	TET3	1.242136929	0.004190147	Unclassified	BrainSpLMD|200424	OMIM|613555
nEN-early1	MYO5A	0.54704463	0.004201114	Structural protein	BrainSpLMD|4644;Eurexp|euxassay_015107|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|160777;COSMIC||Spitzoid tumour, Griscelli syndrome;HPO|4644|Abnormality of movement, Accumulation of melanosomes in melanocytes, Ataxia, Autosomal recessive inheritance, Diplopia, Generalized hypotonia, Global developmental delay, Hyperlipidemia, Hypertonia, Hypopigmentation of hair, Hypopigmentation of the skin, Infantile onset, Intellectual disability, Iris hypopigmentation, Melanin pigment aggregation in hair shafts, Muscular hypotonia, Myopia, Nystagmus, Partial albinism, Premature graying of hair, Retinopathy, Seizures, Silver-gray hair, Specific learning disability, Tremor, White hair
nEN-early1	ZNF428	0.431758397	0.004290726	DNA binding protein	BrainSpLMD|126299	
nEN-early1	MRPL48	0.888739435	0.004297252	Ribosomal subunit	BrainSpLMD|51642	OMIM|611853
nEN-early1	LYSMD3	0.397400965	0.004306915	Unclassified	BrainSpLMD|116068	
nEN-early1	SLC16A14	0.705355415	0.004326844	Membrane transport protein	BrainSpLMD|151473;Eurexp|euxassay_000858|mantle layer, ventricular layer	
nEN-early1	SEC11A	0.417033389	0.004333903	Aminopeptidase	BrainSpLMD|23478;Eurexp|euxassay_003417|Meckel's cartilage, basisphenoid bone, calyces, cervical, cervico-thoracic, clavicle, dorsal root ganglion, glossopharyngeal IX, incisor, mantle layer, olfactory, orbital fissure, orbito-sphenoid, pancreas, respiratory, submandibular gland primordium, testis, thoracic, trigeminal V, vagus X, ventral grey horn, vibrissa	
nEN-early1	C2orf69	0.277335414	0.004365023	Unclassified	BrainSpLMD|205327;Eurexp|euxassay_007579|mandible, maxilla, orbito-sphenoid	
nEN-early1	PRR4	0.467879877	0.004368517	Unclassified	BrainSpLMD|11272	OMIM|605359
nEN-early1	STX2	0.27236517	0.004395354	Transport/cargo protein	BrainSpLMD|2054;Eurexp|euxassay_004202|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, olfactory, thoracic, trigeminal V	OMIM|132350
nEN-early1	TKT	0.329558693	0.004560672	Enzyme: Transketolase	BrainSpLMD|7086	OMIM|606781;HPO|7086|Autosomal recessive inheritance, Intellectual disability, Patent ductus arteriosus, Patent foramen ovale, Proportionate short stature, Self-injurious behavior, Stereotypy, Ventricular septal defect
nEN-early1	ZNF518B	0.301766105	0.004595314	Unclassified		OMIM|617734
nEN-early1	PPP1R7	0.488396285	0.00461043	Serine/threonine phosphatase	BrainSpLMD|5510	OMIM|602877
nEN-early1	HIF1A	0.337241871	0.004674916	Transcription factor	BrainSpLMD|3091;BrainSpMouseDev|15027	OMIM|603348;COSMIC||endometrioid carcinoma, glioblastoma, colorectal, renal, lung, pancreatic
nEN-early1	DCTN1	0.539306762	0.004767754	Cytoskeletal protein	BrainSpLMD|1639	OMIM|601143;COSMIC||inflammatory myofibroblastic tumour, Spitzoid tumour, Distal hereditary motor neuronopathy, susceptibility to amyotrophic lateral sclerosis, Perry syndrome;HPO|1639|Abnormal lower motor neuron morphology, Abnormality of metabolism/homeostasis, Adult onset, Amyotrophic lateral sclerosis, Anxiety, Apathy, Autosomal dominant inheritance, Bradykinesia, Central hypoventilation, Depressivity, Distal amyotrophy, Distal muscle weakness, Dysarthria, Dyspnea, Emotional lability, Facial palsy, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Hand muscle atrophy, Hand muscle weakness, Hypoventilation, Inappropriate behavior, Insomnia, Lower limb muscle weakness, Mask-like facies, Muscle cramps, Neurodegeneration, Pain, Paralysis, Parkinsonism, Rapidly progressive, Respiratory failure, Respiratory insufficiency, Rigidity, Short stepped shuffling gait, Skeletal muscle atrophy, Sleep disturbance, Slow progression, Spasticity, Tremor, Vertical supranuclear gaze palsy, Vocal cord paralysis, Weak voice, Weight loss, Xerostomia
nEN-early1	UROD	0.78025634	0.004809171	Enzyme: Decarboxylase	BrainSpLMD|7389;Eurexp|euxassay_009238|liver, marginal layer, ventricular layer	OMIM|613521;HPO|7389|Alopecia, Autosomal dominant inheritance, Cirrhosis, Cutaneous photosensitivity, Facial hypertrichosis, Fragile skin, Hemolytic anemia, Hepatocellular carcinoma, Hyperpigmentation in sun-exposed areas, Onycholysis, Scleroderma, Thin skin
nEN-early1	ZNF655	0.412463065	0.004831581	DNA binding protein	BrainSpLMD|79027;Eurexp|euxassay_007173|olfactory	
nEN-early1	SKIV2L2	0.323200123	0.004896883			
nEN-early1	FAM49B	0.916960669	0.005031833	Unclassified	BrainSpLMD|51571	
nEN-early1	COX17	0.575840943	0.005107506	Chaperone		OMIM|604813
nEN-early1	TRAF6	0.552451804	0.005160274	Adapter molecule	BrainSpLMD|7189	OMIM|602355
nEN-early1	PSME3	1.006652495	0.005187832	Ubiquitin proteasome system protein	BrainSpLMD|10197;Eurexp|euxassay_006198|ventricular layer	OMIM|605129
nEN-early1	TBC1D16	0.271413572	0.005188648	Unclassified	BrainSpLMD|125058	OMIM|616637
nEN-early1	CHCHD5	0.664643255	0.005194843	Unclassified	BrainSpLMD|84269;Eurexp|euxassay_002823|orbito-sphenoid, turbinate	OMIM|616978
nEN-early1	SMARCB1	0.333322548	0.005247338	Unclassified	BrainSpLMD|6598	OMIM|601607;COSMIC||malignant rhabdoid, malignant rhabdoid;HPO|6598|Abnormality of cardiovascular system morphology, Abnormality of the corpus callosum, Abnormality of the dentition, Anteverted nares, Apathy, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Ataxia, Autosomal dominant inheritance, Choroid plexus carcinoma, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Delayed eruption of permanent teeth, Delayed skeletal maturation, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Feeding difficulties, Feeding difficulties in infancy, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hydrocephalus, Hypertrichosis, Hypoplastic fifth fingernail, Intellectual disability, Intrauterine growth retardation, Irritability, Joint hyperflexibility, Limitation of joint mobility, Long eyelashes, Macrocephaly, Macroglossia, Malignant neoplasm of the central nervous system, Medulloblastoma, Microcephaly, Migraine, Muscle weakness, Muscular hypotonia, Nausea and vomiting, Nystagmus, Recurrent respiratory infections, Reduced consciousness/confusion, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Slow-growing hair, Sparse hair, Sparse scalp hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Visual impairment, Wide mouth, Wide nasal bridge, Wide nose
nEN-early1	ATE1	0.802321681	0.005325157	Enzyme: Acyltransferase	BrainSpLMD|11101;Eurexp|euxassay_002987|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607103
nEN-early1	PYGB	0.959778685	0.005350053	Enzyme: Phosphorylase	BrainSpLMD|5834	OMIM|138550
nEN-early1	SSRP1	0.417169416	0.005364312	Transcription factor	BrainSpLMD|6749;BrainSpMouseDev|20595	OMIM|604328
nEN-early1	PROSER1	0.40084342	0.005470442	Unclassified	BrainSpLMD|80209	
nEN-early1	AGK	0.725249903	0.005476272	Lipid Kinase	BrainSpLMD|55750;Eurexp|euxassay_001595|cervical, cervico-thoracic, dorsal root ganglion, thoracic	OMIM|610345;HPO|55750|3-Methylglutaconic aciduria, Autosomal recessive inheritance, Cataract, Congenital cataract, Easy fatigability, Exercise intolerance, Exercise-induced lactic acidemia, Fatigue, Generalized hypotonia, Glaucoma, Growth delay, Hypertrophic cardiomyopathy, Increased serum lactate, Infantile onset, Lactic acidosis, Mitochondrial myopathy, Motor delay, Muscle weakness, Myopathy, Myopia, Nystagmus, Respiratory insufficiency, Strabismus, Variable expressivity
nEN-early1	TRIM2	0.461656937	0.005493976	Unclassified	BrainSpLMD|23321;Eurexp|euxassay_008433|anterior, bladder, brain, cervical, cervico-thoracic, epithelium, facial VII, glossopharyngeal IX, hindgut, larynx, left lung, lens, mesenchyme, mesentery, metanephros, midgut, naso-lacrimal duct, neural retina, olfactory, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thoracic, trachea, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|614141;HPO|23321|Areflexia, Autosomal recessive inheritance, Broad-based gait, Decreased muscle mass, Decreased number of peripheral myelinated nerve fibers, Generalized hypotonia, Knee flexion contracture, Muscle weakness, Peripheral axonal neuropathy, Pes cavus, Respiratory insufficiency, Talipes equinovarus, Tracheomalacia, Vocal cord paralysis
nEN-early1	TOP1	0.292156653	0.005510854	Enzyme: Topoisomerase	BrainSpLMD|7150;BrainSpMouseDev|21726	SFARI||Autism, 5 - Hypothesized but untested;OMIM|126420;COSMIC||AML*
nEN-early1	ATP2B2	0.974674272	0.005541694	ATPase	BrainSpLMD|491;Eurexp|euxassay_012931|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|108733
nEN-early1	SYT16	0.327368316	0.005546052	Membrane transport protein	BrainSpLMD|83851;Eurexp|euxassay_009743|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	OMIM|610950
nEN-early1	C7orf26	0.319835028	0.005589069	Unclassified	BrainSpLMD|79034;Eurexp|euxassay_005147|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, liver, lung, metanephros, midgut, molar, olfactory, retina, spinal cord, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vestibulocochlear VIII	
nEN-early1	NDUFV2P1	0.589364382	0.005617873			
nEN-early1	TMX2	0.44332341	0.00566775	Integral membrane protein	Eurexp|euxassay_005201|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, lung, mantle layer, midbrain, olfactory lobe, retina, spinal cord, submandibular gland primordium, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|616715
nEN-early1	TRAPPC12	0.398973345	0.005751879	Unclassified	BrainSpLMD|51112	OMIM|614139
nEN-early1	ZNF765	1.226452393	0.005811992	Transcription regulatory protein	BrainSpLMD|91661	
nEN-early1	USB1	1.167493755	0.005827782	Unclassified	BrainSpLMD|79650	OMIM|613276;HPO|79650|Abnormal blistering of the skin, Abnormality of coagulation, Abnormality of female internal genitalia, Abnormality of neutrophils, Abnormality of the fingernails, Abnormality of the pharynx, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Autosomal recessive inheritance, Blepharitis, Bone marrow hypocellularity, Carious teeth, Cellular immunodeficiency, Conjunctivitis, Esophageal stenosis, Global developmental delay, Hyperhidrosis, Hypermelanotic macule, Hypodontia, Hypopigmented skin patches, Intrauterine growth retardation, Malabsorption, Nail dystrophy, Neutropenia, Oral leukoplakia, Periodontitis, Poikiloderma, Recurrent fractures, Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory infections, Rough bone trabeculation, Short stature, Skin ulcer, Sparse hair, Splenomegaly, Taurodontia, Telangiectasia of the skin, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis
nEN-early1	LIPA	0.390192429	0.005872636	Enzyme: Lipase	BrainSpLMD|3988	OMIM|613497;HPO|3988|Abdominal distention, Adrenal calcification, Anemia, Arteriosclerosis, Ascites, Autosomal recessive inheritance, Bone-marrow foam cells, Cachexia, Cirrhosis, Death in infancy, Diarrhea, Esophageal varix, Failure to thrive, Global developmental delay, Growth delay, Hepatic failure, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Malnutrition, Nausea and vomiting, Protuberant abdomen, Pulmonary arterial hypertension, Splenomegaly, Steatorrhea, Vacuolated lymphocytes, Vomiting
nEN-early1	LARP4B	0.42045448	0.005983384	RNA binding protein	BrainSpLMD|23185;Eurexp|euxassay_009421|vertebral axis muscle system	OMIM|616513;COSMIC||CRC, glioma
nEN-early1	NUDT21	0.561642292	0.006089445	RNA binding protein	BrainSpLMD|11051	OMIM|604978
nEN-early1	MAPK8	0.47030694	0.006101359	Serine/threonine kinase	BrainSpLMD|5599;Eurexp|euxassay_018521|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X;BrainSpMouseDev|26167	OMIM|601158
nEN-early1	FANCF	0.401572408	0.006120076	DNA binding protein	BrainSpLMD|2188	OMIM|613897;COSMIC||AML, leukaemia;HPO|2188|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bone marrow hypocellularity, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
nEN-early1	AGPS	0.373174897	0.006133935	Enzyme: Synthase	BrainSpLMD|8540;Eurexp|euxassay_012289|facial VII, glossopharyngeal IX, mantle layer, meninges, sublingual gland primordium, thymus primordium, trigeminal V	OMIM|603051;HPO|8540|Autosomal recessive inheritance, Epiphyseal stippling, Failure to thrive, Rhizomelia, Short femur, Short humerus
nEN-early1	RNU6.957P	0.468848838	0.006156666			
nEN-early1	ATXN2L	0.970719922	0.006218169	Unclassified	BrainSpLMD|11273	OMIM|607931
nEN-early1	SEC16A	0.426480973	0.006252647	Unclassified		OMIM|612854
nEN-early1	ZNF28	0.440438955	0.006378377	DNA binding protein	BrainSpLMD|7576	
nEN-early1	RABEP1	0.373422315	0.006412532	GTPase activating protein	BrainSpLMD|9135	OMIM|603616;COSMIC||CMML
nEN-early1	IPO8	0.371685268	0.006499156	Transport/cargo protein	BrainSpLMD|10526;Eurexp|euxassay_011001|lens	OMIM|605600
nEN-early1	GTF3C3	0.896372975	0.006564169	Transcription factor	BrainSpLMD|9330;Eurexp|euxassay_015986|testis	OMIM|604888
nEN-early1	ZNF714	0.296737365	0.006705674	DNA binding protein	BrainSpLMD|148206	
nEN-early1	TIMM13	0.61631145	0.006788573	Transport/cargo protein	BrainSpLMD|26517	OMIM|607383
nEN-early1	PCNXL2	0.686359463	0.006806225			
nEN-early1	VDAC3	0.279827988	0.006894472	Voltage gated channel	BrainSpLMD|7419;Eurexp|euxassay_007065|embryo	OMIM|610029
nEN-early1	TMEM189	1.322587783	0.006899375	Ubiquitin proteasome system protein	BrainSpLMD|387521	OMIM|610994
nEN-early1	MEMO1	0.547522708	0.006932606	Unclassified	BrainSpLMD|51072	OMIM|611786
nEN-early1	ZNF570	0.387655683	0.006964962	DNA binding protein	BrainSpLMD|148268	
nEN-early1	ZNF277	0.918275028	0.007007102	DNA binding protein	BrainSpLMD|11179	OMIM|605465
nEN-early1	ADRBK2	0.642377364	0.007045829			
nEN-early1	AP2A2	0.542846699	0.007065988	Transport/cargo protein	BrainSpLMD|161	OMIM|607242
nEN-early1	PAPOLA	0.324111025	0.007166647	RNA binding protein	BrainSpLMD|10914	OMIM|605553
nEN-early1	ACVR2B	0.411698902	0.007216848	Receptor serine/threonine kinase	BrainSpLMD|93;Eurexp|euxassay_007595|brain, cervical, cervico-thoracic, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, incisor, inner ear, left lung, metanephros, midgut, molar, olfactory, pharyngo-tympanic tube, pharynx, rectum, renal/urinary system, retina, right lung, spinal cord, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|11269	OMIM|602730;HPO|93|Atrioventricular canal defect, Autosomal dominant inheritance, Dextrocardia, Ectopia of the spleen, Right aortic arch, Ventricular septal defect
nEN-early1	PPP1R21	0.599723742	0.007482298	Unclassified	BrainSpLMD|129285;Eurexp|euxassay_007562|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	
nEN-early1	SPCS2P4	0.281308808	0.007605891			
nEN-early1	SQLE	0.683738862	0.007666955	Enzyme: Oxygenase	BrainSpLMD|6713	OMIM|602019
nEN-early1	SLITRK1	0.837765785	0.007793547	Integral membrane protein	BrainSpLMD|114798;Eurexp|euxassay_012158|axial skeleton, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, rib, skeletal muscle, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|52805	OMIM|609678;HPO|114798|Aggressive behavior, Alopecia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Echolalia, Hair-pulling, Motor tics, Multifactorial inheritance, Obsessive-compulsive behavior, Phonic tics, Self-mutilation, Sleep disturbance
nEN-early1	GTF2F2	0.311108264	0.007832137	Transcription factor	BrainSpLMD|2963	OMIM|189969
nEN-early1	EPT1	0.712116617	0.007873719			
nEN-early1	APRT	0.40314854	0.007884485	Enzyme: Ribosyltransferase	BrainSpLMD|353;Eurexp|euxassay_001689|Meckel's cartilage, axial muscle, olfactory, orbito-sphenoid, vault of skull	OMIM|102600;HPO|353|Autosomal recessive inheritance, Hematuria, Nephrolithiasis, Renal insufficiency
nEN-early1	KATNA1	0.72170494	0.007910666	ATPase	BrainSpLMD|11104	OMIM|606696
nEN-early1	UBE2O	0.784226325	0.007975073	Ubiquitin proteasome system protein	BrainSpLMD|63893	OMIM|617649
nEN-early1	TSPYL4	0.400375069	0.007975804	Unclassified	BrainSpLMD|23270;Eurexp|euxassay_004360|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
nEN-early1	SUB1	0.317026055	0.008162226	Transcription factor	BrainSpLMD|10923	OMIM|600503
nEN-early1	ZNF468	0.551479651	0.008234519	DNA binding protein	BrainSpLMD|90333	OMIM|616841
nEN-early1	TET2	0.534456711	0.008262632	Unclassified	BrainSpLMD|54790	SFARI||Autism, No category;OMIM|612839;COSMIC||MDS;HPO|54790|Abdominal pain, Abnormal platelet morphology, Acute leukemia, Amaurosis fugax, Angina pectoris, Arterial thrombosis, Arthralgia, Bruising susceptibility, Chest pain, Epistaxis, Fatigue, Gingival bleeding, Headache, Hepatomegaly, Increased megakaryocyte count, Myelodysplasia, Myelofibrosis, Myocardial infarction, Paresthesia, Prolonged bleeding time, Respiratory insufficiency, Somatic mutation, Splenomegaly, Tinnitus, Transient ischemic attack, Venous thrombosis, Vertigo, Weight loss
nEN-early1	DLGAP4	0.265438593	0.008451541	Adapter molecule;Unclassified	BrainSpLMD|22839;Eurexp|euxassay_012602|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|616191
nEN-early1	RP1.228H13.5	0.907851745	0.008609668			
nEN-early1	SMAD4	0.351634718	0.008615743	Transcription factor	BrainSpLMD|4089;Eurexp|euxassay_005333|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, orbito-sphenoid, trigeminal V, vagus X;BrainSpMouseDev|16898	SFARI||Autism, 3 - Suggestive evidence;OMIM|600993;COSMIC||colorectal, pancreatic, small intestine, gastrointestinal polyp;HPO|4089|2-3 toe syndactyly, Abdominal pain, Abnormality of epiphysis morphology, Abnormality of the cardiac septa, Abnormality of the metaphysis, Abnormality of the pubic bone, Abnormality of the ribs, Abnormality of the voice, Anemia, Aortic valve stenosis, Autism, Autosomal dominant inheritance, Blepharophimosis, Brachydactyly, Broad ribs, Camptodactyly, Cavernous hemangioma, Cholecystitis, Clinodactyly, Coarctation of aorta, Cone-shaped epiphysis, Craniofacial hyperostosis, Cryptorchidism, Deeply set eye, EMG abnormality, Enlarged vertebral pedicles, Epistaxis, Failure to thrive, Fine hair, Generalized muscle hypertrophy, Global developmental delay, Hamartomatous polyposis, Hearing impairment, Hematochezia, High-grade hypermetropia, Hypermetropia, Hypertelorism, Hypertension, Hypoalbuminemia, Hypokalemia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Intellectual disability, Intrauterine growth retardation, Joint stiffness, Large iliac wings, Laryngotracheal stenosis, Limitation of joint mobility, Low-set ears, Malar flattening, Mandibular prognathia, Microcephaly, Microcytic anemia, Microtia, Midface retrusion, Migraine, Multiple gastric polyps, Narrow mouth, Neoplasm of the pancreas, Overlapping toe, Patent ductus arteriosus, Pericardial effusion, Platyspondyly, Portal hypertension, Prominent nasal bridge, Ptosis, Radial deviation of finger, Seizures, Severe short stature, Short finger, Short long bone, Short neck, Short palm, Short palpebral fissure, Short philtrum, Short stature, Short toe, Skeletal muscle hypertrophy, Somatic mutation, Sparse hair, Specific learning disability, Spontaneous hematomas, Stiff skin, Strabismus, Telangiectasia of the skin, Thick eyebrow, Thickened calvaria, Thickened skin, Thin upper lip vermilion, Thin vermilion border, Vertebral fusion, Visceral angiomatosis
nEN-early1	TULP4	0.338581205	0.008635964	Unclassified	BrainSpLMD|56995;Eurexp|euxassay_019639|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, marginal layer, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ;BrainSpMouseDev|44684	
nEN-early1	API5	0.286917015	0.008640682	Unclassified	BrainSpLMD|8539;Eurexp|euxassay_007141|embryo	OMIM|609774
nEN-early1	MVB12B	0.372381752	0.008665557	Unclassified	BrainSpLMD|89853	
nEN-early1	FKBP1C	0.483571349	0.008691158			
nEN-early1	UBXN2B	0.429103136	0.008717123	Unclassified		OMIM|610686
nEN-early1	GOT2	0.480138459	0.008757122	Enzyme: Aminotransferase	BrainSpLMD|2806	OMIM|138150
nEN-early1	MALSU1	0.352961375	0.008758465	Unclassified	BrainSpLMD|115416	OMIM|614624
nEN-early1	HINT3	0.497956125	0.008771434	Unclassified	BrainSpLMD|135114	OMIM|609998
nEN-early1	USP33	0.296679485	0.008808	Ubiquitin proteasome system protein	BrainSpLMD|23032	OMIM|615146
nEN-early1	BAZ1A	0.351738231	0.009006766	DNA binding protein	BrainSpLMD|11177	OMIM|605680
nEN-early1	ZFP62	0.302260112	0.009037728			OMIM|610281
nEN-early1	UBE2K	0.392139365	0.009061637	Ubiquitin proteasome system protein	BrainSpLMD|3093	OMIM|602846
nEN-early1	RP11.268I9.1	0.295003707	0.009140208			
nEN-early1	PRPSAP2	0.711027747	0.009211559	Regulatory/other subunit	BrainSpLMD|5636;Eurexp|euxassay_001483|brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|603762
nEN-early1	PNO1	0.29632251	0.009222492	Unclassified	BrainSpLMD|56902;Eurexp|euxassay_003781|axial muscle, fundus region, hindgut, left lung, mantle layer, midgut, oesophagus, orbito-sphenoid, rectum, right lung, stomach, submandibular gland primordium, thymus primordium, urethra	
nEN-early1	CACUL1	0.328178831	0.009262388	Unclassified	BrainSpLMD|143384	
nEN-early1	HEBP2	1.351069401	0.009272756	Unclassified	BrainSpLMD|23593	OMIM|605825
nEN-early1	MRTO4	0.447424029	0.009284979	Unclassified	BrainSpLMD|51154;Eurexp|euxassay_003590|left, pancreas, right, submandibular gland primordium	
nEN-early1	ATG14	0.381491294	0.009385538	Unclassified	BrainSpLMD|22863	OMIM|613515
nEN-early1	TMEM205	0.556478136	0.009438718	Unclassified	BrainSpLMD|374882	OMIM|613771
nEN-early1	ANXA7	0.561780284	0.009566468	Calcium binding protein	BrainSpLMD|310	OMIM|186360
nEN-early1	PTPRF	0.501242895	0.009606637	Receptor tyrosine phosphatase	BrainSpLMD|5792	OMIM|179590;HPO|5792|Absent nipple, Autosomal recessive inheritance, Broad nasal tip, Small earlobe, Smooth philtrum
nEN-early1	IARS	0.334491988	0.009699123	Enzyme: Ligase	BrainSpLMD|3376;Eurexp|euxassay_001939|Meckel's cartilage, cervical, cervico-thoracic, cortex, dorsal root ganglion, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	OMIM|600709;HPO|3376|Autosomal recessive inheritance, Congenital onset, Failure to thrive, Generalized hypotonia, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Microcephaly, Postnatal growth retardation, Variable expressivity
nEN-early1	AC018738.2	0.585809694	0.009700021			
nEN-early1	SNHG16	0.412744741	0.009848223			
nEN-early1	COIL	0.64272835	0.009877925	RNA binding protein	BrainSpLMD|8161;Eurexp|euxassay_013629|dorsal grey horn, mantle layer	OMIM|600272
nEN-early1	RPL7AP6	0.679580951	0.009979467			
EN-PFC3	RP11.1415C14.4	1.893289026	0			
EN-PFC3	RP11.1415C14.3	1.772638335	0			
EN-PFC3	MPPED1	1.726526794	0	Enzyme: Esterase	Eurexp|euxassay_009802|incisor, mantle layer, marginal layer, molar;BrainSpMouseDev|85966	OMIM|602112
EN-PFC3	RP11.589F5.4	1.71446425	0			
EN-PFC3	RP11.98J23.2	1.639234403	0			
EN-PFC3	LIMCH1	1.622251546	0	Unclassified	BrainSpLMD|22998	OMIM|617750
EN-PFC3	LINC01102	1.434558841	0			
EN-PFC3	SATB2	1.355806123	0	Transcription regulatory protein	BrainSpLMD|23314;Eurexp|euxassay_018949|axial skeleton, clavicle, femur, fibula, humerus, intermediate grey horn, laryngeal, larynx, mandible, mantle layer, maxilla, mesenchyme, orbito-sphenoid, palatal shelf, pelvic girdle, rib, scapula, shoulder, tibia;BrainSpMouseDev|84457	SFARI||Autism, 4 - Minimal evidence;OMIM|608148;HPO|23314|Aggressive behavior, Arachnodactyly, Autosomal dominant inheritance, Broad-based gait, Bulbous nose, Camptodactyly, Cleft palate, Conical tooth, Delayed speech and language development, Dental crowding, Downslanted palpebral fissures, Feeding difficulties, Fine hair, Frontal bossing, Global developmental delay, Happy demeanor, High forehead, High palate, Hyperactivity, Inguinal hernia, Intellectual disability, Intellectual disability, severe, Long face, Long nose, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Midface retrusion, Muscular hypotonia, Nail dysplasia, Narrow mouth, Narrow nose, Oligodontia, Prominent nasal bridge, Seizures, Short stature, Smooth philtrum, Sparse hair, Talipes equinovarus, Thin skin, Thin vermilion border
EN-PFC3	SLA	1.313485962	0	Adapter molecule	BrainSpLMD|6503	OMIM|601099
EN-PFC3	RBFOX1	1.303646605	0		BrainSpLMD|54715;Eurexp|euxassay_013824|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, thoracic, trigeminal V	SFARI||Autism, 3 - Suggestive evidence;OMIM|605104
EN-PFC3	GPM6A	1.040876544	0	Integral membrane protein	BrainSpLMD|2823;Eurexp|euxassay_005521|brain, diaphragm, epithelium, lip, mesenchyme, mesothelium, neural retina, olfactory, pericardial cavity, spinal cord, stroma	OMIM|601275
EN-PFC3	STMN2	0.882388646	0	Cytoskeletal associated protein	BrainSpLMD|11075;Eurexp|euxassay_009268|cervical, cervico-thoracic, dorsal root ganglion, facial VII, footplate, forebrain, glossopharyngeal IX, handplate, hindbrain, hindgut, incisor, lip, midbrain, midgut, neural retina, oesophagus, olfactory, spinal cord, stomach, thoracic, thymus primordium, tongue, trigeminal V, vestibulocochlear VIII, vibrissa, visceral, vomeronasal organ	OMIM|600621
EN-PFC3	MLLT3	0.777089247	0	Unclassified	BrainSpLMD|4300;Eurexp|euxassay_008130|adrenal gland, brain, ear, epithelium, hindgut, incisor, inner ear, lobe, metatarsus, molar, penis, rectum, rib, spinal cord, submandibular gland primordium, vibrissa	OMIM|159558;COSMIC||ALL
EN-PFC3	DPYSL2	0.695316217	0	Cytoskeletal associated protein	BrainSpLMD|1808	OMIM|602463
EN-PFC3	TUBA1A	0.648928175	0	Cytoskeletal protein	BrainSpLMD|7846	OMIM|602529;HPO|7846|Agenesis of corpus callosum, Ataxia, Autosomal dominant inheritance, Cerebellar vermis hypoplasia, Generalized hypotonia, Heterotopia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, severe, Lissencephaly, Microcephaly, Motor delay, Pachygyria, Polymicrogyria, Seizures, Spastic tetraplegia, Ventriculomegaly
EN-PFC3	MAP1B	0.489997664	0	Cytoskeletal associated protein	BrainSpLMD|4131;Eurexp|euxassay_009367|brain, facial VII, glossopharyngeal IX, olfactory, peripheral nervous system, retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|157129
EN-PFC3	CLMP	1.294608399	1.11E-16		BrainSpLMD|79827;Eurexp|euxassay_001798|mantle layer, marginal layer	OMIM|611693;HPO|79827|Abnormal peristalsis, Autosomal recessive inheritance, Chronic diarrhea, Cognitive impairment, Congenital shortened small intestine, Decreased intestinal transit time, Failure to thrive, Hypotrichosis, Intestinal hypoplasia, Intestinal malrotation, Lipoatrophy, Short stature, Steatorrhea
EN-PFC3	MEIS2	1.281895837	1.11E-16	Transcription factor	BrainSpLMD|4212;BrainSpMouseDev|17303	OMIM|601740;HPO|4212|2-3 toe syndactyly, Atrial septal defect, Autistic behavior, Autosomal dominant inheritance, Biparietal narrowing, Broad hallux, Broad thumb, Cleft palate, Cleft upper lip, Coarctation of aorta, Deeply set eye, Delayed speech and language development, Gastroesophageal reflux, Global developmental delay, High anterior hairline, Highly arched eyebrow, Intellectual disability, Large forehead, Microcephaly, Narrow forehead, Pointed chin, Sandal gap, Short 2nd finger, Short 5th finger, Short philtrum, Short stature, Smooth philtrum, Sparse eyebrow, Tented upper lip vermilion, Upslanted palpebral fissure, Ventricular septal defect
EN-PFC3	GUSBP1	1.046080664	1.11E-16			
EN-PFC3	ATP8A2	1.981285711	2.22E-16	ATPase	BrainSpLMD|51761;Eurexp|euxassay_009705|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605870;HPO|51761|Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Cerebral palsy, Congenital onset, Corpus callosum atrophy, Dysarthria, Gait disturbance, Hyperreflexia, Inability to walk, Intellectual disability, Muscular hypotonia, Seizures, Short stature, Skeletal muscle atrophy, Strabismus, Truncal ataxia
EN-PFC3	KIAA1456	1.771424714	4.44E-16	Unclassified;Enzyme: Aminomethyl transferase	BrainSpLMD|57604;BrainSpMouseDev|106517	OMIM|615666
EN-PFC3	LMO3	1.137172062	6.66E-16	Transcription regulatory protein	BrainSpLMD|55885;Eurexp|euxassay_016491|intermediate grey horn, mantle layer, ventral grey horn;BrainSpMouseDev|73751	OMIM|180386
EN-PFC3	NFIA	0.555382595	8.88E-16	Transcription factor	BrainSpLMD|4774;BrainSpMouseDev|17794	SFARI||Autism, 4 - Minimal evidence;OMIM|600727;HPO|4774|Agenesis of corpus callosum, Anteverted nares, Arnold-Chiari type I malformation, Broad face, Broad forehead, Cognitive impairment, Cutis marmorata, Generalized hypotonia, Global developmental delay, Hydronephrosis, Hypoplasia of the corpus callosum, Inguinal hernia, Intellectual disability, Low-set ears, Macrocephaly, Narrow mouth, Phenotypic variability, Renal hypoplasia, Seizures, Short chin, Short nose, Sporadic, Syringomyelia, Thin upper lip vermilion, Ventriculomegaly, Vesicoureteral reflux
EN-PFC3	SYT4	0.865272994	1.22E-15	Calcium binding protein	BrainSpLMD|6860	OMIM|600103
EN-PFC3	HS6ST3	1.383034261	1.13E-14	Enzyme: Sulphotransferase	BrainSpLMD|266722;Eurexp|euxassay_009084|mantle layer	OMIM|609401
EN-PFC3	NKAIN2	1.782209937	1.85E-14	Integral membrane protein	BrainSpLMD|154215	OMIM|609758
EN-PFC3	DAB1	0.980577151	3.45E-14	Adapter molecule	BrainSpLMD|1600;Eurexp|euxassay_017879|basal columns, footplate, lip, mantle layer, maxilla, mesenchyme, naris, ventricular layer;BrainSpMouseDev|12911	SFARI||Autism, 5 - Hypothesized but untested;OMIM|603448;HPO|1600|Ataxia, Autosomal dominant inheritance, Dysarthria, Frequent falls, Slow progression, Unsteady gait
EN-PFC3	CSRP2	0.947803114	4.81E-14	Adapter molecule	BrainSpLMD|1466;Eurexp|euxassay_016538|aorta, bladder, dorsal grey horn, hindgut, intermediate grey horn, mantle layer, midgut, neural retina, orbito-sphenoid, pancreas, skeletal muscle, stomach, temporal bone, turbinate, vault of skull	OMIM|601871
EN-PFC3	CXADR	0.627927741	5.93E-14	Cell surface receptor	BrainSpLMD|1525;Eurexp|euxassay_012371|bladder, cochlea, cortex, endolymphatic duct, epidermis, epithelium, facial VII, glossopharyngeal IX, incisor, larynx, left lung, mantle layer, marginal layer, meninges, mesothelium, metanephros, midgut, molar, neural retina, olfactory, oral epithelium, pancreas, pharyngo-tympanic tube, primitive seminiferous tubules, rectum, right lung, stomach, trachea, trigeminal V, urogenital mesentery, utricle, vagus X, vestibulocochlear VIII, vibrissa	OMIM|602621
EN-PFC3	FLRT2	1.441481233	7.32E-14	Adhesion molecule	BrainSpLMD|23768	OMIM|604807
EN-PFC3	ADRA2A	1.565016106	4.19E-13	G protein coupled receptor	BrainSpLMD|150;Eurexp|euxassay_010849|basisphenoid bone, mantle layer, marginal layer, naris, nasal capsule, olfactory, ventral grey horn;BrainSpMouseDev|11338	OMIM|104210
EN-PFC3	POU3F2	1.159221202	4.53E-13	Transcription factor	BrainSpLMD|5454;BrainSpMouseDev|18755	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600494
EN-PFC3	LMO4	1.274696065	5.74E-13	Transcription regulatory protein	BrainSpLMD|8543;Eurexp|euxassay_004815|mantle layer, marginal layer, naris, submandibular gland primordium, vibrissa;BrainSpMouseDev|16681	OMIM|603129
EN-PFC3	GLRA2	1.79118957	6.38E-13	Extracellular ligand gated channel	BrainSpLMD|2742;Eurexp|euxassay_006123|brain, spinal cord;BrainSpMouseDev|88304	SFARI||Autism, 5 - Hypothesized but untested;OMIM|305990
EN-PFC3	GNAL	2.215703489	1.55E-12	G protein	BrainSpLMD|2774;Eurexp|euxassay_009060|dorsal root ganglion, mantle layer, trigeminal V	OMIM|139312;HPO|2774|Autosomal dominant inheritance, Laryngeal dystonia, Limb dystonia, Lingual dystonia, Torticollis
EN-PFC3	LRRC7	0.624640428	2.36E-12	Cell junction protein	BrainSpLMD|57554;Eurexp|euxassay_009687|brain, spinal cord	SFARI||Autism, No category;OMIM|614453
EN-PFC3	TNIK	1.052240728	4.35E-12	Serine/threonine kinase	BrainSpLMD|23043	OMIM|610005;HPO|23043|Autosomal recessive inheritance, Delayed speech and language development, Hyperactivity, Intellectual disability
EN-PFC3	MAPT	0.671703065	4.39E-12	Structural protein	BrainSpLMD|4137;Eurexp|euxassay_002990|calyces, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, hindgut, mantle layer, marginal layer, midbrain, midgut, neural retina, olfactory, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|17529	OMIM|157140;HPO|4137|Abnormal brain FDG positron emission tomography, Abnormal pyramidal signs, Abnormality of the cerebral white matter, Adult onset, Aggressive behavior, Akinesia, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apathy, Apraxia, Autosomal dominant inheritance, Axial dystonia, Blurred vision, Bradykinesia, Collectionism, Dementia, Depressivity, Diplopia, Disinhibition, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphagia, Dysphasia, EEG with continuous slow activity, Echolalia, Emotional blunting, Eyelid apraxia, Falls, Frontal lobe dementia, Frontolimbic dementia, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait imbalance, Gliosis, Grammar-specific speech disorder, Granulovacuolar degeneration, Heterogeneous, Hyperorality, Inappropriate behavior, Inappropriate laughter, Inappropriate sexual behavior, Irritability, Kyphoscoliosis, Lack of insight, Language impairment, Loss of speech, Memory impairment, Morphological abnormality of the pyramidal tract, Mutism, Neurofibrillary tangles, Neuronal loss in central nervous system, Ophthalmoparesis, Parkinsonism, Perseveration, Personality changes, Photophobia, Polyphagia, Poor speech, Primitive reflex, Restlessness, Restrictive behavior, Retrocollis, Rigidity, Spoken Word Recognition Deficit, Sporadic, Stereotypy, Supranuclear gaze palsy, Temporal cortical atrophy, Thickened nuchal skin fold, Tremor
EN-PFC3	CDH4	0.645590665	6.34E-12	Adhesion molecule	BrainSpLMD|1002;BrainSpMouseDev|12346	OMIM|603006
EN-PFC3	RTN1	0.707453116	1.37E-11	Integral membrane protein	BrainSpLMD|6252;Eurexp|euxassay_003752|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, penis, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|600865
EN-PFC3	GAP43	1.282370075	2.00E-11	Growth factor	BrainSpLMD|2596;Eurexp|euxassay_002973|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, midgut, nasal capsule, olfactory, rectum, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|14208	SFARI||Autism, 5 - Hypothesized but untested;OMIM|162060
EN-PFC3	NEUROD2	0.663459249	2.66E-11	Transcription factor	BrainSpLMD|4761;Eurexp|euxassay_013855|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|17780	OMIM|601725
EN-PFC3	TMSB10	0.377657297	4.96E-11	Cytoskeletal associated protein	BrainSpLMD|9168	OMIM|188399
EN-PFC3	TBR1	0.808690961	5.01E-11	Transcription factor	BrainSpLMD|10716;BrainSpMouseDev|21136	SFARI||Autism, 1 - High confidence;OMIM|604616;HPO|10716|Abnormality of oral frenula, Abnormality of the iris, Autistic behavior, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Cataract, Cleft palate, Coloboma, Downslanted palpebral fissures, Failure to thrive, Growth delay, Hand clenching, Hypertelorism, Intellectual disability, Long fingers, Low-set, posteriorly rotated ears, Microphthalmia, Neonatal hypotonia, Seizures, Severe global developmental delay, Short neck, Short philtrum, Small face, Small for gestational age, Toe syndactyly
EN-PFC3	TSPYL1	0.295556121	5.90E-11	Unclassified	BrainSpLMD|7259	OMIM|604714;HPO|7259|Abnormality of metabolism/homeostasis, Abnormality of the eye, Abnormality of the voice, Ambiguous genitalia, Ambiguous genitalia, male, Apnea, Autosomal recessive inheritance, Bradycardia, Bronchospasm, Cardiac arrest, Cardiorespiratory arrest, Cryptorchidism, Death in infancy, Dysautonomia, Dysplastic testes, Feeding difficulties in infancy, Gastroesophageal reflux, Growth delay, Hypoplasia of penis, Hyporeflexia, Hypothermia, Laryngospasm, Myoclonus, Ophthalmoplegia, Partial development of the penile shaft, Scrotal hypoplasia, Sleep apnea, Staccato cry, Stridor, Testicular dysgenesis, Tongue fasciculations
EN-PFC3	CTTNBP2	0.412520285	8.31E-11	Unclassified	BrainSpLMD|83992;Eurexp|euxassay_015493|dorsal grey horn, limb, mantle layer, penis, thalamus;BrainSpMouseDev|29776	SFARI||Autism, 3 - Suggestive evidence;OMIM|609772
EN-PFC3	ENC1	0.798615875	1.34E-10	Structural protein	BrainSpLMD|8507;BrainSpMouseDev|13581	OMIM|605173
EN-PFC3	ARPP21	0.690359215	1.64E-10		BrainSpLMD|10777;Eurexp|euxassay_008422|brain, diaphragm, dorsal grey horn, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, head mesenchyme, lip, mantle layer, marginal layer, mesenchyme, olfactory, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, spinal cord, tail, thymus primordium, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|605488
EN-PFC3	NELL2	0.94419589	1.65E-10	Calcium binding protein	BrainSpLMD|4753;Eurexp|euxassay_010538|axial skeleton, brachial plexus, dorsal root ganglion, footplate, handplate, head mesenchyme, incisor, mantle layer, marginal layer, mesenchyme, mesentery, molar, neural retina, olfactory, paraxial mesenchyme, perioptic mesenchyme, peritoneal cavity, rib, ventricular layer	OMIM|602320
EN-PFC3	LNX1.AS1	1.359424051	1.94E-10			
EN-PFC3	SRM	1.640533012	5.04E-10	Enzyme: Synthase	BrainSpLMD|6723	OMIM|182891
EN-PFC3	CALM1	0.45010478	5.91E-10	Calcium binding protein	BrainSpLMD|801	OMIM|114180;HPO|801|Autosomal dominant inheritance, Cardiac arrest, Prolonged QT interval, Sudden death, Syncope, Ventricular tachycardia, Vertigo
EN-PFC3	VSTM2L	1.75894075	6.48E-10	Unclassified	BrainSpLMD|128434;Eurexp|euxassay_007444|embryo	OMIM|616537
EN-PFC3	SLC35F2	1.279013364	7.82E-10	Membrane transport protein	BrainSpLMD|54733;Eurexp|euxassay_003909|genital tubercle, incisor, lateral wall, lung, mantle layer, metanephros, midgut, molar, naris, olfactory lobe, palatal shelf, pancreas, rectum, respiratory, submandibular gland primordium, thymus primordium, turbinate bones	
EN-PFC3	RNU6.457P	1.446373622	9.97E-10			
EN-PFC3	KIAA1598	0.418623778	1.36E-09			
EN-PFC3	PTPRD	0.601614707	2.07E-09	Receptor tyrosine phosphatase	BrainSpLMD|5789	OMIM|601598
EN-PFC3	PRKG2	1.368633769	3.05E-09	Serine/threonine kinase	BrainSpLMD|5593	OMIM|601591
EN-PFC3	CACNA2D1	1.033204894	3.49E-09	Voltage gated channel	BrainSpLMD|781;Eurexp|euxassay_006438|dorsal grey horn, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, pituitary, skeletal muscle, trigeminal V, ventral grey horn, vertebral axis muscle system;BrainSpMouseDev|12078	OMIM|114204;HPO|781|Atrial fibrillation, Bradycardia, Palpitations, Shortened QT interval
EN-PFC3	SYT1	0.994831848	3.54E-09	Calcium binding protein	BrainSpLMD|6857;Eurexp|euxassay_018026|adrenal gland, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, epithelium, external, facial VII, foregut-midgut junction, glossopharyngeal IX, hindbrain, hindgut, incisor, limb, mantle layer, marginal layer, mesenchyme, midbrain, midgut, neural retina, oesophagus, olfactory, oral epithelium, pectoralis major, pectoralis minor, pituitary, retina, spinal cord, stomach, stroma, thoracic, tongue, trigeminal V, ureter, urethra, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|20740	OMIM|185605
EN-PFC3	AMER2	0.466895572	3.76E-09	Unclassified	BrainSpLMD|219287;Eurexp|euxassay_006362|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614659
EN-PFC3	PLXNA4	0.675520785	4.22E-09	Unclassified	BrainSpLMD|91584;Eurexp|euxassay_009720|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X;BrainSpMouseDev|89119	SFARI||Autism, 3 - Suggestive evidence;OMIM|604280
EN-PFC3	BCL11A	0.274002409	4.34E-09	DNA binding protein	BrainSpLMD|53335;Eurexp|euxassay_007892|dorsal grey horn, incisor, naris, olfactory, pharyngo-tympanic tube, submandibular gland primordium, vibrissa;BrainSpMouseDev|13802	SFARI||Autism, 2 - Strong candidate;OMIM|606557;COSMIC||B-CLL;HPO|53335|Autosomal dominant inheritance, Congenital onset, Cupped ear, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, Global developmental delay, Intellectual disability, Joint hypermobility, Low-set ears, Microcephaly, Midface retrusion, Overfolded helix, Retrognathia, Strabismus, Thin upper lip vermilion
EN-PFC3	YWHAZ	0.531331647	4.94E-09	Adapter molecule	BrainSpLMD|7534	OMIM|601288
EN-PFC3	USP31	1.17578422	5.77E-09	Ubiquitin proteasome system protein	BrainSpLMD|57478	
EN-PFC3	MLLT11	0.512039662	7.96E-09	Unclassified	BrainSpLMD|10962;Eurexp|euxassay_010405|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|604684;COSMIC||ALL;HPO|10962|Autosomal dominant inheritance, Juvenile myelomonocytic leukemia, Somatic mutation
EN-PFC3	TUBB	0.386418085	8.78E-09	Cytoskeletal protein	BrainSpLMD|203068	OMIM|191130;HPO|203068|Abnormality of cardiovascular system morphology, Abnormality of the skin, Ataxia, Autosomal dominant inheritance, Blepharophimosis, Brachycephaly, Cerebellar hypoplasia, Cleft palate, Congenital onset, Delayed speech and language development, Edema, Epicanthus, Flat face, Global developmental delay, High palate, Hypertelorism, Hypoplasia of the brainstem, Hypoplastic nipples, Increased number of skin folds, Intellectual disability, Irregular hyperpigmentation, Localized neuroblastoma, Low-set ears, Microcephaly, Motor delay, Narrow mouth, Periorbital fullness, Posteriorly rotated ears, Short neck, Short palpebral fissure, Thickened skin, Wide intermamillary distance
EN-PFC3	GUSBP3	1.657539058	9.20E-09			
EN-PFC3	ITPR1	1.943207776	9.72E-09	Intracellular ligand gated channel	BrainSpLMD|3708;Eurexp|euxassay_006317|choroid invagination, choroid plexus, roof plate;BrainSpMouseDev|16211	SFARI||Autism, 4 - Minimal evidence;OMIM|147265;HPO|3708|Abnormality of movement, Aniridia, Ataxia, Autosomal recessive inheritance, Cerebellar hypoplasia, Global developmental delay, Hypoplasia of the iris, Intellectual disability, Mask-like facies, Motor delay, Muscular hypotonia, Nystagmus, Postural tremor, Scanning speech, Slurred speech, Visual impairment
EN-PFC3	PTBP2	0.494985268	1.05E-08	RNA binding protein	BrainSpLMD|58155	SFARI||Autism, 4 - Minimal evidence;OMIM|608449
EN-PFC3	PTPRO	1.20241516	1.11E-08	Receptor tyrosine phosphatase	BrainSpLMD|5800;Eurexp|euxassay_000528|cerebral cortex, corpus striatum, hypothalamus, lateral wall, marginal layer, olfactory cortex, testis	OMIM|600579;HPO|5800|Autosomal recessive inheritance, Edema, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Variable expressivity
EN-PFC3	KCNJ6	1.480444183	1.13E-08	Inward rectifier channel	BrainSpLMD|3763;BrainSpMouseDev|16295	OMIM|600877;HPO|3763|Abnormality of eye movement, Abnormality of the forehead, Absence of subcutaneous fat, Autosomal dominant inheritance, Congenital generalized lipodystrophy, Decreased testicular size, Dimple chin, Dyspnea, Failure to thrive, Flexion contracture, Generalized lipodystrophy, Gingival overgrowth, High palate, High, narrow palate, Hyperreflexia, Hypertonia, Intellectual disability, profound, Intellectual disability, severe, Large eyes, Loss of facial adipose tissue, Mask-like facies, Microcephaly, Micrognathia, Narrow naris, Narrow nasal bridge, Open mouth, Opisthotonus, Polyhydramnios, Postnatal growth retardation, Premature skin wrinkling, Progeroid facial appearance, Prominent nasal tip, Proptosis, Recurrent pneumonia, Respiratory insufficiency, Scoliosis, Severe global developmental delay, Shallow orbits, Short philtrum, Spastic tetraparesis, Tented upper lip vermilion, Underdeveloped nasal alae, Upper airway obstruction
EN-PFC3	DOPEY2	0.93074019	1.66E-08	Unclassified	BrainSpLMD|9980	OMIM|604803
EN-PFC3	ZBTB18	0.569013686	1.94E-08	Transcription regulatory protein	BrainSpLMD|10472	OMIM|608433;HPO|10472|Abnormality of the pinna, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Depressed nasal bridge, Epicanthus, Generalized hypotonia, Global developmental delay, Hypertelorism, Intellectual disability, Low-set ears, Microcephaly, Micrognathia, Prominent forehead, Round face, Seizures, Short stature, Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Variable expressivity
EN-PFC3	SCN3B	0.285744677	2.35E-08	Voltage gated channel	BrainSpLMD|55800;Eurexp|euxassay_012281|cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, midgut, neural retina, olfactory, skeletal muscle, stomach, thoracic, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|608214;HPO|55800|Atrial flutter, Autosomal dominant inheritance, ST segment elevation
EN-PFC3	SEMA3C	0.488092274	2.40E-08	Ligand	BrainSpLMD|10512;BrainSpMouseDev|20111	OMIM|602645;HPO|10512|Abdominal pain, Aganglionic megacolon, Constipation, Intestinal obstruction, Nausea and vomiting, Weight loss
EN-PFC3	PRDM8	1.071944109	2.93E-08	Unclassified	BrainSpLMD|56978;Eurexp|euxassay_003278|diencephalon, dorsal root ganglion, hindbrain, midbrain, spinal cord, telencephalon, trigeminal V	OMIM|616639;HPO|56978|Autosomal recessive inheritance, Dementia, Dysarthria, Generalized myoclonic seizures, Hallucinations, Hyperreflexia, Lafora bodies, Mutism, Myoclonus, Paranoia, Progressive, Progressive cerebellar ataxia, Psychosis, Spastic ataxia, Spastic tetraplegia, Urinary incontinence, Variable expressivity
EN-PFC3	DDX5	0.386852191	2.94E-08	RNA binding protein	BrainSpLMD|1655;BrainSpMouseDev|12987	OMIM|180630;COSMIC||prostate
EN-PFC3	L1CAM	1.421067084	3.12E-08	Adhesion molecule	BrainSpLMD|3897;Eurexp|euxassay_016867|alar columns, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vagus X, ventral grey horn, ventricle, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|16500	OMIM|308840;HPO|3897|Abnormal facial shape, Absent septum pellucidum, Adducted thumb, Aganglionic megacolon, Agenesis of corpus callosum, Aphasia, Aqueductal stenosis, Camptodactyly of finger, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Corticospinal tract hypoplasia, Delayed speech and language development, Flexion contracture of thumb, Gait disturbance, Hand clenching, Hemiplegia/hemiparesis, Hydrocephalus, Hyperlordosis, Hyperreflexia, Increased intracranial pressure, Inferior vermis hypoplasia, Intellectual disability, Intellectual disability, severe, Kyphosis, Macrocephaly, Microcephaly, Muscle weakness, Partial agenesis of the corpus callosum, Pes cavus, Seizures, Short stature, Shuffling gait, Spastic paraplegia, Spasticity, Strabismus, Talipes equinovarus, Ventriculomegaly, X-linked recessive inheritance
EN-PFC3	6-Mar	0.317899182	3.30E-08			
EN-PFC3	RP11.497H16.5	1.904149996	3.80E-08			
EN-PFC3	FRMD4B	1.134208356	4.24E-08	Unclassified		OMIM|617467
EN-PFC3	NEUROD6	0.295713969	4.63E-08	Transcription factor	BrainSpLMD|63974;Eurexp|euxassay_017889|inner ear, mantle layer, olfactory, olfactory lobe;BrainSpMouseDev|11708	OMIM|611513
EN-PFC3	ZEB2	0.46916686	7.26E-08	Transcription regulatory protein	BrainSpLMD|9839;Eurexp|euxassay_005774|bladder, dorsal grey horn, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, lung, mantle layer, metanephros, midgut, nasal septum, penis, pharyngo-tympanic tube, stomach;BrainSpMouseDev|23887	OMIM|605802;HPO|9839|Abdominal distention, Abnormality of metabolism/homeostasis, Abnormality of the abdominal wall, Abnormality of the rib cage, Absent speech, Atrial septal defect, Autosomal dominant inheritance, Broad eyebrow, Delayed eruption of teeth, Drooling, Generalized hypotonia, Happy demeanor, Hypoplasia of the corpus callosum, Intellectual disability, moderate, Motor delay, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pulmonary artery sling, Pulmonary artery stenosis, Pulmonic stenosis, Supernumerary nipple, Ventricular septal defect, Vomiting, Widely spaced teeth
EN-PFC3	GUSBP9	1.791129776	7.57E-08			
EN-PFC3	PID1	1.23544659	9.76E-08	Unclassified	BrainSpLMD|55022	OMIM|612930
EN-PFC3	MYT1L	0.601206338	1.25E-07	Transcription factor	BrainSpLMD|23040;BrainSpMouseDev|17700	SFARI||Autism, 1 - High confidence;OMIM|613084;HPO|23040|Aggressive behavior, Autosomal dominant inheritance, Delayed speech and language development, Global developmental delay, Intellectual disability, Obesity
EN-PFC3	CD24	0.506269446	1.31E-07		BrainSpLMD|100133941;BrainSpMouseDev|12269	OMIM|600074
EN-PFC3	SLC44A5	1.107622286	1.53E-07	Transport/cargo protein	BrainSpLMD|204962;Eurexp|euxassay_019725|floor plate, floorplate, glossopharyngeal IX, lip, mantle layer, marginal layer, trachea, ventral grey horn, ventricular layer	
EN-PFC3	SPOCK1	1.524358601	1.81E-07	Extracellular matrix protein	BrainSpLMD|6695;Eurexp|euxassay_008541|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, incisor, mantle layer, midbrain, molar, neural retina, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|602264
EN-PFC3	SCG2	0.858959988	1.84E-07	Secreted polypeptide	BrainSpLMD|7857;Eurexp|euxassay_018265|adrenal gland, dorsal grey horn, mantle layer, marginal layer, olfactory, pancreas, pituitary, ventral grey horn;BrainSpMouseDev|20017	OMIM|118930
EN-PFC3	NETO2	0.809507164	2.15E-07	Integral membrane protein	BrainSpLMD|81831;Eurexp|euxassay_009406|mantle layer, marginal layer	OMIM|607974
EN-PFC3	RNU6.328P	1.490031534	2.28E-07			
EN-PFC3	HIVEP2	0.504899742	2.32E-07	DNA binding protein	BrainSpLMD|3097;Eurexp|euxassay_008979|marginal layer, mesenchyme;BrainSpMouseDev|15048	OMIM|143054;HPO|3097|Abnormal facial shape, Anxiety, Autistic behavior, Autosomal dominant inheritance, Constipation, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hyperactivity, Impulsivity, Infantile onset, Intellectual disability, Narrow mouth, Prominent nasal bridge, Tapered finger, Wide nasal bridge
EN-PFC3	PALMD	1.211728038	2.81E-07	Unclassified	BrainSpLMD|54873	OMIM|610182
EN-PFC3	GAREM	1.091997636	2.91E-07			
EN-PFC3	MIAT	0.342943985	2.96E-07			OMIM|611082
EN-PFC3	KLHL29	1.073513814	3.14E-07	Unclassified	BrainSpLMD|114818;Eurexp|euxassay_011122|mantle layer, marginal layer, trigeminal V;BrainSpMouseDev|83975	
EN-PFC3	AFF3	0.739024296	3.23E-07	Transcription factor	BrainSpLMD|3899;BrainSpMouseDev|16536	OMIM|601464;COSMIC||ALL, T-ALL
EN-PFC3	AUTS2	0.383447528	3.37E-07	Unclassified	BrainSpLMD|26053	SFARI||Autism, 3 - Suggestive evidence;OMIM|607270;HPO|26053|Abnormal facial shape, Arthrogryposis multiplex congenita, Autism, Autosomal dominant inheritance, Brachycephaly, Cerebral palsy, Decreased palmar creases, Delayed speech and language development, Downslanted palpebral fissures, Feeding difficulties, Global developmental delay, Highly arched eyebrow, Hypertelorism, Intellectual disability, Kyphosis, Low-set ears, Microcephaly, Narrow mouth, Prominent nasal tip, Ptosis, Scoliosis, Short palpebral fissure, Short philtrum, Short stature, Small for gestational age, Strabismus, Thick eyebrow, Wide nasal base
EN-PFC3	EPS8	1.028872717	4.83E-07	Adapter molecule	BrainSpLMD|2059;Eurexp|euxassay_004434|adrenal gland, lung, mantle layer, marginal layer, mesenchyme, metanephros, midgut, nasal septum, pancreas, rectum, testis, thymus primordium, turbinate bones	SFARI||Autism, No category;OMIM|600206;HPO|2059|Autosomal recessive inheritance, Congenital onset, Profound hearing impairment
EN-PFC3	UCHL1	0.487207239	5.24E-07	Ubiquitin proteasome system protein	BrainSpLMD|7345;Eurexp|euxassay_007064|cervical, cervico-thoracic, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, hindgut, incisor, medulla, mesenchyme, midgut, neural retina, olfactory, skeletal muscle, stomach, testis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|191342;HPO|7345|Ankle clonus, Autosomal recessive inheritance, Babinski sign, Cerebellar atrophy, Cerebral atrophy, Dysmetria, Fasciculations, Flexion contracture, Head titubation, Myokymia, Myopia, Neurodegeneration, Nystagmus, Optic atrophy, Pes cavus, Pes planus, Progressive, Progressive visual loss, Spastic paraplegia, Tetraparesis
EN-PFC3	CHL1	0.38897871	5.93E-07	Adhesion molecule	BrainSpLMD|10752;BrainSpMouseDev|12446	OMIM|607416;HPO|10752|Atrioventricular canal defect, Brachycephaly, Cleft palate, Cognitive impairment, Cryptorchidism, Downturned corners of mouth, Epicanthus, Hearing impairment, High palate, Hypertelorism, Intrauterine growth retardation, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscular hypotonia, Postaxial hand polydactyly, Ptosis, Short stature, Telecanthus
EN-PFC3	CLASP2	0.381832367	6.00E-07	Cytoskeletal associated protein	BrainSpLMD|23122;Eurexp|euxassay_014210|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla oblongata, metencephalon, midbrain, spinal cord, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605853
EN-PFC3	RNF150	1.291607229	7.18E-07	Ubiquitin proteasome system protein	Eurexp|euxassay_014053|dorsal grey horn, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn, vestibulocochlear VIII	
EN-PFC3	ATCAY	0.327068652	8.29E-07	Integral membrane protein	BrainSpLMD|85300;Eurexp|euxassay_004136|brain, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, midgut, neural retina, olfactory, spinal cord, stomach, telencephalon, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608179;HPO|85300|Autosomal recessive inheritance, Broad-based gait, Dysarthria, Gait ataxia, Generalized hypotonia, Global developmental delay, Intention tremor, Nystagmus
EN-PFC3	LPHN3	1.064284809	8.48E-07			
EN-PFC3	PDE4D	0.544159331	8.90E-07	Enzyme: Phosphodiesterase	BrainSpLMD|5144	OMIM|600129;HPO|5144|Abnormal form of the vertebral bodies, Abnormality of female external genitalia, Abnormality of immune system physiology, Abnormality of the nail, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Anteverted nares, Autism, Autosomal dominant inheritance, Blue irides, Brachycephaly, Brachydactyly, Cerebral venous thrombosis, Cone-shaped epiphysis, Congenital craniofacial dysostosis, Congenital hypothyroidism, Congenital onset, Cryptorchidism, Delayed eruption of teeth, Delayed speech and language development, Depressed nasal bridge, Depressed nasal ridge, Diabetes mellitus, Elevated calcitonin, Elevated circulating parathyroid hormone level, Epiphyseal stippling, Fair hair, Global developmental delay, Growth hormone deficiency, Hearing impairment, Hyperactivity, Hyperphosphatemia, Hypertelorism, Hypocalcemia, Hypogonadism, Hypoplasia of the maxilla, Hypoplasia of the nasal bone, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic vertebral bodies, Hypospadias, Increased intracranial pressure, Intellectual disability, Intrauterine growth retardation, Malar flattening, Mandibular prognathia, Micromelia, Midface retrusion, Mild short stature, Narrow vertebral interpedicular distance, Obesity, Open mouth, Peripheral neuropathy, Pseudohypoparathyroidism, Red hair, Round face, Scoliosis, Short metacarpal, Short metatarsal, Short nose, Short phalanx of finger, Short stature, Short toe, Specific learning disability, Spinal canal stenosis, Wide nasal bridge
EN-PFC3	B3GALT1	0.745319491	1.02E-06	Enzyme: Galactosyltransferase	BrainSpLMD|8708	OMIM|603093
EN-PFC3	TTC28	0.586307957	1.04E-06	Unclassified	BrainSpLMD|23331	OMIM|615098
EN-PFC3	MN1	0.745115843	1.14E-06	Cell cycle control protein	BrainSpLMD|4330;Eurexp|euxassay_012879|axial skeleton, head mesenchyme, mantle layer, marginal layer, metacarpus, metatarsus, palatal shelf, phalanx, tarsus, ventral grey horn, ventricular layer, vibrissa	OMIM|156100;COSMIC||AML, meningioma;HPO|4330|Adult onset, Autosomal dominant inheritance, Incomplete penetrance, Meningioma
EN-PFC3	DUSP4	1.085365518	1.18E-06	Dual specificity phosphatase	BrainSpLMD|1846;Eurexp|euxassay_008070|brain, olfactory, spinal cord	OMIM|602747
EN-PFC3	DNAH10	1.115649912	1.42E-06	Cytoskeletal protein	BrainSpLMD|196385	SFARI||Autism, No category;OMIM|605884
EN-PFC3	GRM7	2.344530203	1.44E-06	G protein coupled receptor	BrainSpLMD|2917	SFARI||Autism, 4 - Minimal evidence;OMIM|604101
EN-PFC3	POU3F3	0.443222972	1.60E-06	Transcription factor	BrainSpLMD|5455;Eurexp|euxassay_019559|axial skeleton, ductus deferens, inner ear, larynx, lip, loop, lower, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, nasal septum, palatal shelf, penis, phalanx, rectum, skeletal muscle, trigeminal V, upper, ventricular layer;BrainSpMouseDev|18756	OMIM|602480
EN-PFC3	YWHAG	0.373136391	1.69E-06	Adapter molecule	BrainSpLMD|7532	OMIM|605356
EN-PFC3	PRKY	1.454123594	2.02E-06	Serine/threonine kinase	BrainSpLMD|5616	OMIM|400008
EN-PFC3	CDK5R1	0.662298036	2.16E-06	Regulatory/other subunit	BrainSpLMD|8851;BrainSpMouseDev|12354	OMIM|603460
EN-PFC3	SNAP25	0.79287752	2.37E-06	Membrane transport protein	BrainSpLMD|6616;Eurexp|euxassay_015720|cervical, cervico-thoracic, dorsal root ganglion, extrinsic ocular muscle, facial VII, forebrain, glossopharyngeal IX, hindbrain, lip, midbrain, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|600322;HPO|6616|Areflexia, Ataxia, Autosomal dominant inheritance, Congenital onset, Decreased fetal movement, Difficulty walking, Dysarthria, Easy fatigability, Flexion contracture, Global developmental delay, Muscle weakness, Poor speech, Ptosis, Respiratory insufficiency
EN-PFC3	PGAP1	0.651899338	2.55E-06	Enzyme: Acyltransferase	BrainSpLMD|80055	OMIM|611655;HPO|80055|Abnormal electroretinogram, Abnormality of the dentition, Autosomal recessive inheritance, Cerebral atrophy, Global developmental delay, Intellectual disability, Macrotia, Microcephaly, Neonatal hypotonia, Retinal dystrophy, Short neck, Short stature, Wide mouth
EN-PFC3	GRIA1	0.892198409	2.58E-06	Extracellular ligand gated channel	BrainSpLMD|2890;Eurexp|euxassay_018233|mantle layer, neural retina, palatal shelf, saccule;BrainSpMouseDev|14575	SFARI||Autism, 2 - Strong candidate;OMIM|138248
EN-PFC3	RP11.497H16.8	0.80007397	2.86E-06			
EN-PFC3	FDFT1	0.469809122	3.21E-06	Enzyme: Synthase	BrainSpLMD|2222;Eurexp|euxassay_005703|calyces, cerebral cortex, cervical, cervico-thoracic, cochlear component, dorsal root ganglion, epithelium, facial VII, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, inferior, inner ear, lens, loop, mantle layer, mesenteric artery, midgut, molar, nucleus pulposus, retina, skeleton, stomach, superior, tegmentum, thoracic, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|184420
EN-PFC3	PHKB	0.657216676	3.40E-06	Unclassified	BrainSpLMD|5257	OMIM|172490;HPO|5257|Autosomal recessive inheritance, Diarrhea, Generalized hypotonia, Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content, Muscle weakness, Muscular hypotonia, Short stature
EN-PFC3	HMGCS1	0.458061624	3.44E-06	Enzyme: Synthase	BrainSpLMD|3157	OMIM|142940
EN-PFC3	CELF1	0.585885715	3.59E-06	RNA binding protein	BrainSpLMD|10658	OMIM|601074
EN-PFC3	RAP2B	0.454503913	4.00E-06	GTPase	BrainSpLMD|5912;Eurexp|euxassay_002574|vibrissa	OMIM|179541
EN-PFC3	SLC12A2	0.653906801	4.18E-06	Membrane transport protein	BrainSpLMD|6558;Eurexp|euxassay_008837|cortex, incisor, left lung, midgut, olfactory, pharyngo-tympanic tube, rectum, right lung, stomach, submandibular gland primordium;BrainSpMouseDev|20258	OMIM|600840
EN-PFC3	CEP170	0.338503519	4.40E-06	Unclassified	BrainSpLMD|9859	OMIM|613023
EN-PFC3	EPHA3	0.844142059	4.44E-06	Receptor tyrosine kinase	BrainSpLMD|2042;Eurexp|euxassay_018957|axial muscle, clavicle, cranial muscle, extrinsic ocular muscle, floorplate, head mesenchyme, incisor, lip, lung, mantle layer, marginal layer, mesenchyme, molar, naris, palatal shelf, pectoral girdle and thoracic body wall, skeletal muscle, tarsus, thymus primordium, tongue, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|13615	OMIM|179611;COSMIC||lung cancer, CRC, melanoma
EN-PFC3	LINGO1	0.553978181	4.77E-06	Unclassified	BrainSpLMD|84894	OMIM|609791
EN-PFC3	RP11.166D19.1	0.464945861	4.80E-06			
EN-PFC3	YWHAE	0.313355921	4.85E-06	Adapter molecule	BrainSpLMD|7531;Eurexp|euxassay_018722|embryo	SFARI||Autism, 4 - Minimal evidence;OMIM|605066;COSMIC||endometrial stromal sarcoma, Miller-Dieker lissencephaly syndrome;HPO|7531|Abnormality of the cardiovascular system, Abnormality of upper lip, Anteverted nares, Cerebral cortical atrophy, Downslanted palpebral fissures, EEG abnormality, Epicanthus, Frontal bossing, Global developmental delay, Growth delay, High forehead, Hypertelorism, Lissencephaly, Low-set ears, Muscular hypotonia, Narrow mouth, Polyhydramnios, Seizures, Short neck, Short nose, Wide nose
EN-PFC3	NHSL1	0.716106563	5.20E-06	Unclassified		
EN-PFC3	SH3GL1	0.512456314	5.49E-06	Unclassified	BrainSpLMD|6455;Eurexp|euxassay_000588|chondrocranium	OMIM|601768;COSMIC||AL
EN-PFC3	ELMOD1	0.462473358	5.60E-06	Unclassified	BrainSpLMD|55531;Eurexp|euxassay_015979|mantle layer, ventral grey horn, vibrissa	OMIM|615456
EN-PFC3	RP11.1319K7.1	0.297957994	6.31E-06			
EN-PFC3	YWHAZP3	0.547798851	6.73E-06			
EN-PFC3	NUAK1	1.011228279	6.74E-06	Enzyme: Phosphotransferase	BrainSpLMD|9891;Eurexp|euxassay_010978|aorta, axial skeleton, clavicle, dorsal root ganglion, incisor, mandible, mantle layer, maxilla, metanephros, molar, neural retina, olfactory, orbito-sphenoid, trigeminal V, vibrissa, vomeronasal organ	SFARI||Autism, 3 - Suggestive evidence;OMIM|608130
EN-PFC3	ROBO1	0.612021494	6.96E-06	Adhesion molecule	BrainSpLMD|6091;Eurexp|euxassay_009691|adrenal gland, extrinsic ocular muscle, incisor, lip, mandible, mantle layer, metanephros, metatarsus, midgut, molar, nasal septum, palatal shelf, penis, phalanx, tarsus, turbinate bones, ventral grey horn, vibrissa;BrainSpMouseDev|19639	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602430
EN-PFC3	PPP1R14C	1.730515701	7.07E-06	Regulatory/other subunit	BrainSpLMD|81706	OMIM|613242
EN-PFC3	SORBS1	0.456636628	9.82E-06	Cell junction protein	BrainSpLMD|10580;Eurexp|euxassay_003610|axial skeleton, basisphenoid bone, bladder, brain, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, heart, hindlimb, incisor, lens, liver, lung, metanephros, midgut, nasal septum, oesophagus, olfactory, orbito-sphenoid, otic capsule, respiratory, retina, rib, spinal cord, sternum, stomach, tongue, trachea, trigeminal V, vagus X, vertebra, vertebral cartilage condensation, vestibulocochlear VIII;BrainSpMouseDev|20174	OMIM|605264
EN-PFC3	GNG2	0.3951029	1.19E-05	G protein	BrainSpLMD|54331;Eurexp|euxassay_003975|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606981
EN-PFC3	NTM	0.394305563	1.25E-05	Adhesion molecule	BrainSpLMD|50863;Eurexp|euxassay_012548|axial skeleton, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, meninges, mesenchyme, neural retina, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|87964	OMIM|607938
EN-PFC3	LPHN2	0.685705006	1.27E-05			
EN-PFC3	FAM110B	0.326793043	1.27E-05	Unclassified	BrainSpLMD|90362	OMIM|611394
EN-PFC3	PGD	0.636997497	1.45E-05	Enzyme: Dehydrogenase	BrainSpLMD|5226;Eurexp|euxassay_010515|adrenal gland, axial muscle, dorsal root ganglion, liver, lung, mandible, maxilla, metanephros, midgut, orbito-sphenoid, stomach, thymus primordium	OMIM|172200
EN-PFC3	HN1	0.422340813	1.46E-05			
EN-PFC3	ASXL3	0.596365144	1.47E-05	Unclassified		SFARI||Autism, 1 - High confidence;OMIM|615115;HPO|80816|Anteverted nares, Feeding difficulties, Highly arched eyebrow, Severe global developmental delay, Severe postnatal growth retardation
EN-PFC3	SLC22A23	0.572231594	1.47E-05	Integral membrane protein	BrainSpLMD|63027	OMIM|611697
EN-PFC3	WNT3	1.462991101	1.64E-05	Ligand	BrainSpLMD|7473;BrainSpMouseDev|22172	OMIM|165330;HPO|7473|Abnormal lung lobation, Abnormal vertebral ossification, Abnormality of the diaphragm, Abnormality of the larynx, Absent external genitalia, Adrenal gland agenesis, Agenesis of corpus callosum, Anal atresia, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia involving the pelvis, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the nipples, Asplenia, Autosomal recessive inheritance, Cataract, Choanal atresia, Cleft palate, Cleft upper lip, Cryptorchidism, Gastroschisis, Heterogeneous, Hydrocephalus, Hypoplasia of the fallopian tube, Hypoplastic pelvis, Iris coloboma, Low-set ears, Microcornea, Micrognathia, Microphthalmia, Microtia, Missing ribs, Multicystic kidney dysplasia, Narrow mouth, Optic atrophy, Oral cleft, Peripheral pulmonary vessel aplasia, Polyhydramnios, Pulmonary hypoplasia, Renal agenesis, Septo-optic dysplasia, Single naris, Single umbilical artery, Tetraamelia, Tracheal stenosis, Urethral atresia, Vaginal atresia
EN-PFC3	SPTAN1	0.550949426	1.81E-05	Cytoskeletal protein;Structural protein	BrainSpLMD|6709;Eurexp|euxassay_012194|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lens, mantle layer, midgut, neural retina, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|182810;HPO|6709|Abnormality of skin morphology, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Developmental regression, Epileptic encephalopathy, Generalized hypotonia, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, profound, Intellectual disability, severe, Myoclonus, Progressive microcephaly, Seizures, Spastic tetraplegia, Variable expressivity
EN-PFC3	TSPAN13	0.88312536	1.88E-05	Integral membrane protein	BrainSpLMD|27075;Eurexp|euxassay_003891|brain, cervical, cervico-thoracic, dorsal root ganglion, ductus deferens, facial VII, fundus region, glossopharyngeal IX, left lung, neural retina, olfactory, physiological umbilical hernia, rectum, right lung, spinal cord, stomach, thoracic, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII	OMIM|613139
EN-PFC3	ZNF286A	0.614321187	1.92E-05	DNA binding protein	BrainSpLMD|57335	
EN-PFC3	SRGAP1	0.625614453	1.97E-05	GTPase activating protein	BrainSpLMD|57522	OMIM|606523
EN-PFC3	MB21D2	1.288178808	2.00E-05	Unclassified	BrainSpLMD|151963	COSMIC||lung cancer
EN-PFC3	TMEM108	0.78835998	2.08E-05	Unclassified	BrainSpLMD|66000;Eurexp|euxassay_002435|choroid plexus, lateral recess, marginal layer	OMIM|617361
EN-PFC3	PPP2R2B	0.481032019	2.26E-05	Regulatory/other subunit;Serine/threonine phosphatase	BrainSpLMD|5521;Eurexp|euxassay_007301|Meckel's cartilage, brain, eyelid, facial VII, glossopharyngeal IX, inner ear, left lung, neural retina, orbito-sphenoid, right lung, skeletal muscle, spinal cord, tongue, trigeminal V, turbinate, vagus X, vestibulocochlear VIII	OMIM|604325;HPO|5521|Abnormality of eye movement, Action tremor, Anxiety, Autosomal dominant inheritance, Axial dystonia, Cerebellar atrophy, Cerebral cortical atrophy, Delusions, Dementia, Depressivity, Dysarthria, Dysdiadochokinesis, Dysmetria, Facial myokymia, Head tremor, Hyperreflexia, Parkinsonism, Progressive cerebellar ataxia, Sensorimotor neuropathy
EN-PFC3	FAT3	0.701351699	2.33E-05	Integral membrane protein	Eurexp|euxassay_015982|axial muscle, clavicle, cortex, diaphragm, dorsal root ganglion, exoccipital bone, facial VII, femur, lip, mandible, mantle layer, maxilla, mesenchyme, metatarsus, orbito-sphenoid, pelvic girdle, phalanx, rib, saccule, skeletal muscle, sternum, thymus primordium, trigeminal V, urethra, vault of skull, ventricular layer, vibrissa;BrainSpMouseDev|92930	OMIM|612483;COSMIC||SCC, colon adenocarcinoma, gastric adenocarcinoma
EN-PFC3	ZNF286B	0.362739991	2.73E-05	Unclassified		
EN-PFC3	RP11.1280N14.3	1.67192614	2.87E-05			
EN-PFC3	OCLN	0.345048393	3.51E-05		Eurexp|euxassay_018589|embryo	OMIM|602876;HPO|100506658|Abnormality of movement, Anteverted nares, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral calcification, Cerebral cortical atrophy, Decreased liver function, Elevated hepatic transaminases, Failure to thrive, Global developmental delay, Hepatomegaly, High palate, Hyperreflexia, Increased CSF protein, Intellectual disability, profound, Jaundice, Lissencephaly, Long philtrum, Low-set ears, Microcephaly, Microretrognathia, Muscular hypotonia of the trunk, Nystagmus, Pachygyria, Petechiae, Phenotypic variability, Polymicrogyria, Seizures, Sloping forehead, Spasticity, Splenomegaly, Thrombocytopenia, Ventriculomegaly
EN-PFC3	MSMO1	0.38005609	3.66E-05	Unclassified	BrainSpLMD|6307;Eurexp|euxassay_000744|Meckel's cartilage, adrenal gland, calyces, chondrocranium, dorsal root ganglion, facial VII, foregut-midgut junction, hindgut, incisor, inferior, lobe, mesenchyme, midgut, molar, olfactory, stomach, superior, testis, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|607545;HPO|6307|Arthralgia, Autosomal recessive inheritance, Blepharitis, Congenital cataract, Decreased circulating low-density lipoprotein levels, Delayed puberty, Delayed skeletal maturation, Failure to thrive, Global developmental delay, Hypocholesterolemia, Ichthyosis, Intellectual disability, mild, Microcephaly, Psoriasiform dermatitis, Short stature
EN-PFC3	PHACTR3	0.803137201	3.85E-05	Regulatory/other subunit	BrainSpLMD|116154	OMIM|608725
EN-PFC3	YWHAEP1	0.548444323	3.89E-05			
EN-PFC3	ATOX1	0.421302608	3.91E-05	Chaperone	BrainSpLMD|475	OMIM|602270
EN-PFC3	STRBP	0.406239125	4.48E-05	RNA binding protein	BrainSpLMD|55342;Eurexp|euxassay_012970|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|611138
EN-PFC3	EXOC4	1.062563388	4.85E-05	Transport/cargo protein	BrainSpLMD|60412;Eurexp|euxassay_014340|brain, cervical, cranial, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608185
EN-PFC3	TUBB2A	0.536782118	4.89E-05		BrainSpLMD|7280;Eurexp|euxassay_006726|embryo	OMIM|615101;HPO|7280|Autosomal dominant inheritance, Cortical dysplasia, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Seizures, Variable expressivity
EN-PFC3	VLDLR.AS1	1.658450711	5.16E-05			
EN-PFC3	RIMKLB	0.33030346	6.29E-05	Unclassified	BrainSpLMD|57494;Eurexp|euxassay_010437|brain, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, incisor, molar, neural retina, phalanx, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|614054
EN-PFC3	ELOVL6	0.582161904	6.45E-05	Unclassified	BrainSpLMD|79071;Eurexp|euxassay_007796|embryo	OMIM|611546
EN-PFC3	SCN3A	0.271557299	6.47E-05	Voltage gated channel	BrainSpLMD|6328	OMIM|182391
EN-PFC3	SEMA4G	0.862322323	6.82E-05	Unclassified	BrainSpLMD|57715;Eurexp|euxassay_007828|cervical, cervico-thoracic, cortex, dorsal root ganglion, forebrain, fundus region, glossopharyngeal IX, hindbrain, hindgut, left, loop, midbrain, neural retina, olfactory, rectum, right, spinal cord, trigeminal V, urethra, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|26204	
EN-PFC3	EIF1B	0.857151638	7.31E-05	Translation regulatory protein	BrainSpLMD|10289;Eurexp|euxassay_011475|mantle layer, ventricular layer	
EN-PFC3	FOXG1	0.320564768	7.36E-05	Transcription factor	BrainSpLMD|2290;Eurexp|euxassay_017858|glossopharyngeal IX, mantle layer, molar, olfactory, thymus primordium, vestibulocochlear VIII;BrainSpMouseDev|15004	SFARI||Autism, No category;OMIM|164874;HPO|2290|Abnormality of movement, Abnormality of the antihelix, Abnormality of the antitragus, Abnormality of the fingernails, Abnormality of the metacarpal bones, Absent speech, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Apraxia, Athetosis, Autosomal dominant inheritance, Blepharophimosis, Bruxism, Bulbous nose, Camptodactyly of finger, Cerebral cortical atrophy, Chorea, Clinodactyly of the 5th finger, Constipation, Cortical gyral simplification, Delayed myelination, Depressed nasal bridge, Developmental regression, Downslanted palpebral fissures, Drooling, Dyskinesia, Dystonia, EEG abnormality, Epicanthus, Everted lower lip vermilion, Excessive salivation, Feeding difficulties, Fine hair, Gastroesophageal reflux, Growth delay, Hearing impairment, Hypoplasia of the corpus callosum, Intellectual disability, Intellectual disability, severe, Kyphosis, Long philtrum, Macroglossia, Mandibular prognathia, Microcephaly, Motor delay, Muscular hypotonia, Neonatal hypotonia, Nephrolithiasis, Pachygyria, Palpebral edema, Pes planus, Poor eye contact, Progressive microcephaly, Prominent metopic ridge, Protruding ear, Scoliosis, Seizures, Short nose, Smooth philtrum, Spasticity, Sporadic, Stereotypy, Talipes equinovarus, Tented upper lip vermilion, Thick vermilion border, Tongue thrusting, Underdeveloped nasal alae, Ventriculomegaly, Wide mouth, Wide nose
EN-PFC3	TMEM192	0.490100895	7.39E-05	Integral membrane protein	BrainSpLMD|201931	
EN-PFC3	NRXN1	0.325861426	7.83E-05	Cell surface receptor	BrainSpLMD|9378;Eurexp|euxassay_005585|arm, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, leg, midbrain, neural retina, olfactory, oral epithelium, respiratory, spinal cord, thoracic, trigeminal V, trunk mesenchyme, vagus X, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17956	SFARI||Autism, 2 - Strong candidate;OMIM|600565;HPO|9378|Autosomal recessive inheritance, Constipation, Drooling, Epileptic encephalopathy, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Hyperventilation, Intellectual disability, severe, Protruding tongue, Pulmonic stenosis, Scoliosis, Strabismus, Wide mouth
EN-PFC3	PDE1A	0.843535252	7.88E-05	Enzyme: Phosphodiesterase	BrainSpLMD|5136;BrainSpMouseDev|18339	OMIM|171890
EN-PFC3	RP11.815J21.4	0.921337174	9.19E-05			
EN-PFC3	FAM13A	0.498337728	9.68E-05	Unclassified	BrainSpLMD|10144	OMIM|613299
EN-PFC3	TUBBP1	0.353038141	9.71E-05			
EN-PFC3	ZSWIM6	0.392310825	0.000107412		Eurexp|euxassay_012565|mandible, mantle layer, maxilla	OMIM|615951;HPO|57688|Agenesis of corpus callosum, Autosomal dominant inheritance, Bifid nose, Brachycephaly, Broad nasal tip, Choroid plexus cyst, Cleft palate, Cleft upper lip, Encephalocele, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Large sella turcica, Meningocele, Preaxial polydactyly, Retrocerebellar cyst, Seizures, Syndactyly, Talipes equinovarus, Telecanthus, Thick nail, Thick nasal alae, Ventriculomegaly
EN-PFC3	SHC3	0.685595417	0.000112134	Adapter molecule	BrainSpLMD|53358;Eurexp|euxassay_009466|cochlear duct, ventral grey horn, ventricular layer	OMIM|605263
EN-PFC3	CHRDL1	0.680520022	0.000114078	Secreted polypeptide	BrainSpLMD|91851	OMIM|300350
EN-PFC3	GPI	0.578219097	0.000121509	Enzyme: Isomerase	BrainSpLMD|2821	OMIM|172400;HPO|2821|Ataxia, Autosomal recessive inheritance, Cholecystitis, Decreased glucosephosphate isomerase activity, Impaired neutrophil bactericidal activity, Intellectual disability, Jaundice, Muscle weakness, Nonspherocytic hemolytic anemia, Pigment gallstones, Sensory ataxia, Splenomegaly, Spontaneous hemolytic crises
EN-PFC3	GPR12	1.378379973	0.000122841	G protein coupled receptor	BrainSpLMD|2835;Eurexp|euxassay_005675|cerebral cortex	OMIM|600752
EN-PFC3	CRMP1	0.343684455	0.000123544	Enzyme: Hydrolase	BrainSpLMD|1400;Eurexp|euxassay_006182|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, genital tubercle, glossopharyngeal IX, midgut, neural retina, rectum, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602462
EN-PFC3	SHISA2	0.622068393	0.000132624	Integral membrane protein	BrainSpLMD|387914	OMIM|617324
EN-PFC3	PHACTR1	0.329864097	0.000132633	Enzyme regulator		OMIM|608723
EN-PFC3	FAM13A.AS1	0.371200223	0.000134045			
EN-PFC3	KIF3A	0.949295311	0.000140154	Motor protein	BrainSpLMD|11127	OMIM|604683
EN-PFC3	SLC29A4	0.47857374	0.000140692	Membrane transport protein	BrainSpLMD|222962;Eurexp|euxassay_015715|choroid plexus;BrainSpMouseDev|89066	SFARI||Autism, No category;OMIM|609149
EN-PFC3	KCNK2	1.7963923	0.000142126	Ion channel;Membrane transport protein	BrainSpLMD|3776;Eurexp|euxassay_000689|limb, olfactory, ventral grey horn, ventricular layer;BrainSpMouseDev|16299	OMIM|603219
EN-PFC3	C14orf23	0.731102267	0.000144839			
EN-PFC3	DAAM1	0.388154606	0.000145762	Unclassified	BrainSpLMD|23002;BrainSpMouseDev|84026	OMIM|606626
EN-PFC3	STXBP1	0.658979896	0.000157003	Transport/cargo protein	BrainSpLMD|6812	SFARI||Autism, 3 - Suggestive evidence;OMIM|602926;HPO|6812|Absent speech, Ataxia, Autosomal dominant inheritance, Cerebral atrophy, Cerebral hypomyelination, Cutaneous photosensitivity, Developmental regression, EEG abnormality, EEG with burst suppression, Epileptic encephalopathy, Epileptic spasms, Febrile seizures, Focal clonic seizures, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic seizures, Generalized tonic-clonic seizures, Hypoplasia of the corpus callosum, Hypsarrhythmia, Impaired horizontal smooth pursuit, Infantile encephalopathy, Intellectual disability, severe, Muscular hypotonia, Neonatal onset, Neurodevelopmental delay, Obtundation status, Pschomotor retardation, Severe global developmental delay, Spastic paraplegia, Spastic tetraplegia, Status epilepticus, Tremor, Variable expressivity
EN-PFC3	MAGED1	0.263471686	0.000158634	Cell cycle control protein	BrainSpLMD|9500;Eurexp|euxassay_012384|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system;BrainSpMouseDev|60907	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300224
EN-PFC3	NSFL1C	0.68859999	0.000161729	Unclassified	BrainSpLMD|55968	OMIM|606610
EN-PFC3	TUBB4A	0.362068962	0.000180459	Cytoskeletal protein	BrainSpLMD|10382;Eurexp|euxassay_018005|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602662
EN-PFC3	VCAN	0.637692105	0.000184238	Extracellular matrix protein	BrainSpLMD|1462	OMIM|118661;HPO|1462|Autosomal dominant inheritance, Cataract, Chorioretinal atrophy, Glaucoma, Myopia, Optic atrophy, Optically empty vitreous, Peripheral traction retinal detachment, Retinal pigment epithelial atrophy, Visual field defect, Visual loss, Vitreoretinal degeneration
EN-PFC3	BASP1	0.390510559	0.000184852	Transcription regulatory protein	BrainSpLMD|10409	OMIM|605940
EN-PFC3	GRIA3	1.048095953	0.000205738	Extracellular ligand gated channel	BrainSpLMD|2892;BrainSpMouseDev|32941	OMIM|305915;HPO|2892|Aggressive behavior, Brachycephaly, Deeply set eye, Intellectual disability, Intellectual disability, severe, Prominent supraorbital ridges, Short stature, X-linked recessive inheritance
EN-PFC3	TBL1XR1	0.472812934	0.000209006	Transcription regulatory protein	BrainSpLMD|79718;Eurexp|euxassay_006481|thymus primordium	SFARI||Autism, 2 - Strong candidate;OMIM|608628;COSMIC||splenic marginal zone lymphoma, primary central nervous system lymphoma, colorectal carcinoma, gallbladder carcinoma;HPO|79718|Abnormal peripheral nervous system morphology, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Brachycephaly, Brachydactyly, Broad face, Broad foot, Broad hallux, Broad palm, Broad philtrum, Broad thumb, Cognitive impairment, Cone-shaped epiphyses of the phalanges of the hand, Decreased body weight, Deep palmar crease, Deep plantar creases, Deeply set eye, Delayed speech and language development, Dysarthria, Enuresis nocturna, Everted lower lip vermilion, Feeding difficulties in infancy, Full cheeks, Global developmental delay, High anterior hairline, High forehead, High palate, Hyperreflexia, Hypertelorism, Hypoplastic areola, Intellectual disability, Large fleshy ears, Long upper lip, Malar flattening, Microcephaly, Midface retrusion, Narrow face, Nasal speech, Pectus carinatum, Pectus excavatum, Pes planus, Phenotypic variability, Posteriorly rotated ears, Progressive spastic paraplegia, Scissor gait, Short finger, Short foot, Short metacarpal, Short metatarsal, Short neck, Short nose, Short palm, Short phalanx of finger, Short stature, Short toe, Smooth philtrum, Telecanthus, Unilateral narrow palpebral fissure, Wide intermamillary distance, Wide nose, Widely spaced teeth
EN-PFC3	SSBP2	0.413545486	0.000228486	Transcription regulatory protein	BrainSpLMD|23635;Eurexp|euxassay_004775|adenohypophysis, brain, diencephalon, forelimb, glossopharyngeal IX, hindbrain, hindlimb, mantle layer, marginal layer, mesenchyme, midbrain, olfactory, spinal cord, tail, trigeminal V, vestibulocochlear VIII	OMIM|607389
EN-PFC3	FGF13	0.534666425	0.000244051	Growth factor	BrainSpLMD|2258	OMIM|300070
EN-PFC3	ANK2	0.371950525	0.000244243	Cytoskeletal associated protein	BrainSpLMD|287	SFARI||Autism, 1 - High confidence;OMIM|106410;HPO|287|Atrial fibrillation, Autosomal dominant inheritance, Heterogeneous, Prolonged QT interval, Sinus bradycardia, Sudden cardiac death, Syncope
EN-PFC3	GNAO1	0.423461825	0.0002734	G protein	BrainSpLMD|2775;Eurexp|euxassay_018084|atrium, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, pituitary, spinal cord, stomach, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|139311;HPO|2775|Absent speech, Autosomal dominant inheritance, Cerebral atrophy, Delayed myelination, Epileptic encephalopathy, Generalized tonic seizures, Global developmental delay, Hypoplasia of the corpus callosum, Hypsarrhythmia
EN-PFC3	CDC42EP3	0.770240451	0.000297726	GTPase	BrainSpLMD|10602	OMIM|606133
EN-PFC3	TRIM36.IT1	0.426307246	0.00030507			
EN-PFC3	EFR3B	0.958494337	0.000325384	Unclassified	BrainSpLMD|22979	OMIM|616797
EN-PFC3	MASP1	0.850951926	0.000325634	Serine protease	BrainSpLMD|5648	OMIM|600521;HPO|5648|Abnormality of eye movement, Abnormality of the anterior chamber, Atrial septal defect, Autosomal recessive inheritance, Bilateral cryptorchidism, Blepharophimosis, Broad foot, Caudal appendage, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Conductive hearing impairment, Conjunctival telangiectasia, Coronal craniosynostosis, Craniosynostosis, Dental crowding, Diastasis recti, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus inversus, Glaucoma, Growth delay, Hearing impairment, Highly arched eyebrow, Hydronephrosis, Hyperlordosis, Hypertelorism, Intellectual disability, Intellectual disability, mild, Lambdoidal craniosynostosis, Large fleshy ears, Limited pronation/supination of forearm, Microcephaly, Omphalocele, Oral cleft, Patent ductus arteriosus, Postnatal growth retardation, Ptosis, Radioulnar synostosis, Sacral dimple, Scoliosis, Short 5th finger, Short foot, Single interphalangeal crease of fifth finger, Skull asymmetry, Spina bifida occulta, Supernumerary nipple, Telecanthus, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide anterior fontanel
EN-PFC3	STX1A	0.751514726	0.000330031	Membrane transport protein	BrainSpLMD|6804;BrainSpMouseDev|20669	SFARI||Autism, No category;OMIM|186590;HPO|6804|Biliary cirrhosis, Decreased antibody level in blood, Exocrine pancreatic insufficiency, Immunodeficiency, Malabsorption, Pulmonary fibrosis, Recurrent respiratory infections
EN-PFC3	AC016716.2	0.875589646	0.000333873			
EN-PFC3	CSRNP3	0.638176401	0.000374721	Unclassified	BrainSpLMD|80034;Eurexp|euxassay_009789|brain, mantle layer, spinal cord, trigeminal V, ventricular layer	
EN-PFC3	CPNE8	1.324199341	0.000384382	Unclassified	BrainSpLMD|144402	
EN-PFC3	NEFM	0.974904392	0.00042609	Structural protein	BrainSpLMD|4741;Eurexp|euxassay_009463|basal plate, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lip, mantle layer, marginal layer, midgut, neural retina, pons, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|162250
EN-PFC3	NPRL2	1.184949218	0.000438383	Unclassified	BrainSpLMD|10641	OMIM|607072;HPO|10641|Autosomal dominant inheritance, Incomplete penetrance
EN-PFC3	RNF182	0.713905361	0.000465812	Ubiquitin proteasome system protein	BrainSpLMD|221687;Eurexp|euxassay_012952|mantle layer, marginal layer, olfactory	
EN-PFC3	ZNF706	0.31849356	0.000466148	DNA binding protein	BrainSpLMD|51123	
EN-PFC3	CAMK2N1	0.443001083	0.000470444	Unclassified	BrainSpLMD|55450	OMIM|614986
EN-PFC3	YWHAZP2	0.291033762	0.000473495			
EN-PFC3	TLE3	0.572563538	0.000484696	Transcription regulatory protein	BrainSpLMD|7090;BrainSpMouseDev|21646	OMIM|600190
EN-PFC3	TUBB3	0.574958841	0.000491531	Structural protein	Eurexp|euxassay_015339|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, stroma, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|21909	OMIM|602661;HPO|10381|Agenesis of corpus callosum, Amblyopia, Autosomal dominant inheritance, Compensatory chin elevation, Congenital fibrosis of extraocular muscles, Congenital onset, Cortical dysplasia, Exotropia, Global developmental delay, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, moderate, Levator palpebrae superioris atrophy, Lissencephaly, Microcephaly, Muscular hypotonia of the trunk, Nonprogressive restrictive external ophthalmoplegia, Nystagmus, Phenotypic variability, Polymicrogyria, Ptosis, Spasticity, Strabismus, Superior rectus atrophy, Variable expressivity
EN-PFC3	LNX1	1.811087262	0.000493912	Ubiquitin proteasome system protein	BrainSpLMD|84708	OMIM|609732
EN-PFC3	USP22	0.473653672	0.000508343	Unclassified	Eurexp|euxassay_000296|alar plate, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral wall, lens, medulla oblongata, meninges, metencephalon, neural retina, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612116
EN-PFC3	ZNF253	0.440770541	0.000579976	Transcription factor	BrainSpLMD|56242	OMIM|606954
EN-PFC3	RP11.181B18.1	0.914594948	0.000592502			
EN-PFC3	RP11.806K15.1	0.660257733	0.000617348			
EN-PFC3	ZC2HC1A	0.298184678	0.00062582	Unclassified	BrainSpLMD|51101;Eurexp|euxassay_014698|cochlear component, diencephalon, dorsal root ganglion, facial VII, hindbrain, inferior, medulla oblongata, metencephalon, midbrain, olfactory, spinal cord, superior, telencephalon, trigeminal V, turbinate bones, vagus X, vestibular component	
EN-PFC3	NDUFB11	0.358233	0.000681893	Enzyme: Oxidoreductase	BrainSpLMD|54539	OMIM|300403;HPO|54539|Abnormal facial shape, Abnormality of retinal pigmentation, Abnormality of the cardiac septa, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Agenesis of corpus callosum, Anophthalmia, Arrhythmia, Cardiac arrest, Congenital diaphragmatic hernia, Dermal atrophy, Dilated cardiomyopathy, Dilation of lateral ventricles, Erythema, Failure to thrive, Hyperpigmentation of the skin, Hypertrophic cardiomyopathy, Hypopigmented skin patches, Lacrimal duct atresia, Mandibular aplasia, Micrognathia, Microphthalmia, Midface retrusion, Muscular hypotonia of the trunk, Myopia, Nystagmus, Retrognathia, Sclerocornea, Seizures, Severe short stature, Strabismus, Ventricular fibrillation, Ventricular tachycardia, Vitritis, Wide nasal bridge, Wide nose, X-linked dominant inheritance
EN-PFC3	ZNF662	0.763519341	0.000690763	DNA binding protein	BrainSpLMD|389114	
EN-PFC3	CD24P4	0.350322732	0.000699086			
EN-PFC3	RP11.101E13.5	0.476176336	0.000706519			
EN-PFC3	LIN7C	0.315657367	0.000718329	Unclassified	BrainSpLMD|55327	OMIM|612332
EN-PFC3	ACAT2	0.355302965	0.000719604	Enzyme: Acyltransferase	BrainSpLMD|39;Eurexp|euxassay_010142|brain, cervical, cervico-thoracic, chondrocranium, dorsal root ganglion, facial VII, foregut-midgut junction, glomeruli, glossopharyngeal IX, head mesenchyme, hindgut, incisor, left lung, liver, lobe, marginal layer, mesenchyme, metanephros, midgut, neural retina, right lung, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|100678;HPO|39|Chorea, Generalized hypotonia, Global developmental delay, Increased serum lactate, Increased serum pyruvate, Sporadic
EN-PFC3	NCALD	0.659877144	0.000722851	Calcium binding protein	BrainSpLMD|83988;Eurexp|euxassay_005524|cervical, cervico-thoracic, dorsal root ganglion, forebrain, hindbrain, midbrain, spinal cord, thoracic, trigeminal V, vagus X, vibrissa	OMIM|606722
EN-PFC3	NCOA1	0.837289212	0.000737993	Enzyme: Transferase	BrainSpLMD|8648;Eurexp|euxassay_005512|diaphragm, dorsal grey horn, olfactory, vertebral axis muscle system;BrainSpMouseDev|17744	OMIM|602691;COSMIC||alveolar rhabdomyosarcoma
EN-PFC3	VDAC2	0.663561266	0.00074001	Voltage gated channel	BrainSpLMD|7417	OMIM|193245
EN-PFC3	RRAS2	1.331916375	0.0007609	GTPase	BrainSpLMD|22800;Eurexp|euxassay_010734|thymus primordium	OMIM|600098
EN-PFC3	SFXN3	0.739720616	0.000783658	Integral membrane protein	BrainSpLMD|81855	OMIM|615571
EN-PFC3	LINC00599	0.364207737	0.000790821			
EN-PFC3	PTPN4	0.617146214	0.000806205	Tyrosine phosphatase	BrainSpLMD|5775;Eurexp|euxassay_009725|mantle layer, marginal layer, ventricular layer	OMIM|176878
EN-PFC3	IGSF3	1.144460397	0.000807014	Integral membrane protein	BrainSpLMD|3321	OMIM|603491;HPO|3321|Autosomal dominant inheritance, Autosomal recessive inheritance, Dacryocystocele, Increased lacrimation, Lacrimal duct atresia
EN-PFC3	CELF5	0.328804505	0.00081113	RNA binding protein	BrainSpLMD|60680	OMIM|612680
EN-PFC3	SYT14	0.468938984	0.000818817	Membrane transport protein	BrainSpLMD|255928	OMIM|610949;HPO|255928|Autosomal recessive inheritance, Cerebellar atrophy, Dysarthria, Global developmental delay, Impaired smooth pursuit, Limb ataxia, Slow progression, Truncal ataxia
EN-PFC3	ABCA1	0.578127022	0.000834316	Transport/cargo protein	BrainSpLMD|19;Eurexp|euxassay_009354|brain, spinal cord, ventricular layer	OMIM|600046;HPO|19|Abdominal pain, Abnormality of the liver, Accelerated atherosclerosis, Anemia, Autosomal dominant inheritance, Autosomal recessive inheritance, Blurred vision, Chronic noninfectious lymphadenopathy, Corneal opacity, Coronary artery stenosis, Decreased circulating high-density lipoprotein levels, Distal amyotrophy, Distal muscle weakness, Dry skin, EMG abnormality, Ectropion, Facial diplegia, Hemiplegia/hemiparesis, Hepatomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Hyporeflexia, Impaired pain sensation, Impaired temperature sensation, Left ventricular hypertrophy, Lymphadenopathy, Myocardial infarction, Nail dysplasia, Nail dystrophy, Opacification of the corneal stroma, Orange discoloured tonsils, Peripheral axonal neuropathy, Peripheral demyelination, Progressive peripheral neuropathy, Splenomegaly, Visual impairment, Xanthomatosis
EN-PFC3	ACTL6B	1.120538549	0.000849533	Structural protein	BrainSpLMD|51412;Eurexp|euxassay_005177|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612458
EN-PFC3	CPEB4	0.338897282	0.000849624	RNA binding protein	BrainSpLMD|80315	OMIM|610607
EN-PFC3	ZNF827	1.017022921	0.000874766	DNA binding protein	BrainSpLMD|152485	SFARI||Autism, No category
EN-PFC3	DISP2	1.509496231	0.000969967	Integral membrane protein	BrainSpLMD|85455;Eurexp|euxassay_009571|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, neural retina, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607503
EN-PFC3	RNF152	1.187144954	0.000970449	Ubiquitin proteasome system protein	BrainSpLMD|220441	OMIM|616512
EN-PFC3	UNC79	0.493262299	0.000970917	Unclassified	BrainSpLMD|57578	OMIM|616884
EN-PFC3	TMEM33	0.298568083	0.000985616	Unclassified	BrainSpLMD|55161;Eurexp|euxassay_004897|dorsal root ganglion, glossopharyngeal IX, olfactory, respiratory, submandibular gland primordium, trigeminal V, vagus X, vibrissa	
EN-PFC3	KIAA1644	1.071483328	0.001078132			
EN-PFC3	GNAI1	0.638444901	0.001134314	G protein	BrainSpLMD|2770;Eurexp|euxassay_009056|dorsal root ganglion	OMIM|139310
EN-PFC3	YWHAZP4	0.371748591	0.00117867			
EN-PFC3	SOX5	0.607747099	0.001198673	Transcription factor	BrainSpLMD|6660;BrainSpMouseDev|20440	SFARI||Autism, No category;OMIM|604975;HPO|6660|2-3 toe syndactyly, Abnormality of brain morphology, Anxiety, Autosomal dominant inheritance, Bulbous nose, Clinodactyly, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Exaggerated median tongue furrow, Exotropia, Facial asymmetry, Frontal bossing, Generalized hypotonia, Global developmental delay, Hyperplasia of the maxilla, Intellectual disability, Low-set ears, Lumbar hyperlordosis, Motor delay, Muscular hypotonia, Myopia, Narrow palate, Open mouth, Optic atrophy, Pectus carinatum, Phenotypic variability, Posteriorly rotated ears, Scoliosis, Strabismus, Thoracic kyphoscoliosis, Vertebral fusion, Wide nasal bridge
EN-PFC3	DSTN	0.68034062	0.001239546	Cytoskeletal associated protein	BrainSpLMD|11034;Eurexp|euxassay_001919|atrium, bladder, brain, cervico-thoracic, dorsal root ganglion, epidermis, epithelium, glossopharyngeal IX, hindgut, midgut, neural retina, oesophagus, olfactory, oral epithelium, pharyngo-tympanic tube, respiratory, spinal cord, stomach, stroma, submandibular gland primordium, thoracic, thymus primordium, thyroid, trachea, trigeminal V, vagus X, ventricle, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, wall	OMIM|609114
EN-PFC3	B3GALT2	0.890000486	0.001283275	Enzyme: Galactosyltransferase	BrainSpLMD|8707;Eurexp|euxassay_011551|axial skeleton, diaphragm, footplate, mantle layer, marginal layer, neural retina, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|26624	OMIM|603018
EN-PFC3	GPR85	1.197202345	0.001311452	G protein coupled receptor	BrainSpLMD|54329;Eurexp|euxassay_005306|axial skeleton, brain, glossopharyngeal IX, neural retina, skeletal muscle, spinal cord, stroma, trachea, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|605188
EN-PFC3	BCL11B	0.339589034	0.001329845	Transcription regulatory protein;DNA binding protein	BrainSpLMD|64919;BrainSpMouseDev|37240	OMIM|606558;COSMIC||T-ALL;HPO|64919|Absent speech, Autosomal dominant inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hirsutism, Hypertelorism, Inflammatory abnormality of the skin, Intellectual disability, Micrognathia, Natal tooth, Pulmonary artery stenosis, Seizures, Severe combined immunodeficiency, Short palpebral fissure, Spastic tetraplegia, Umbilical hernia, Wormian bones
EN-PFC3	SCD	0.425873421	0.001387077	Enzyme: Oxidoreductase	BrainSpLMD|6319;Eurexp|euxassay_012236|adrenal gland, axial skeleton, basal columns, cervico-thoracic, clavicle, dorsal root ganglion, ductus deferens, embryo, facial VII, glossopharyngeal IX, hindgut, incisor, larynx, lens, lobe, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, neural retina, nucleus pulposus, orbito-sphenoid, otic capsule, pancreas, petrous part, pharyngo-tympanic tube, pituitary, rectum, rib, skeletal muscle, stomach, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, turbinate, urethra, vagus X, vault of skull, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|604031
EN-PFC3	BEX5	0.984481784	0.001416256	Unclassified		OMIM|300693
EN-PFC3	TRIM2	0.453715622	0.001491158	Unclassified	BrainSpLMD|23321;Eurexp|euxassay_008433|anterior, bladder, brain, cervical, cervico-thoracic, epithelium, facial VII, glossopharyngeal IX, hindgut, larynx, left lung, lens, mesenchyme, mesentery, metanephros, midgut, naso-lacrimal duct, neural retina, olfactory, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thoracic, trachea, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|614141;HPO|23321|Areflexia, Autosomal recessive inheritance, Broad-based gait, Decreased muscle mass, Decreased number of peripheral myelinated nerve fibers, Generalized hypotonia, Knee flexion contracture, Muscle weakness, Peripheral axonal neuropathy, Pes cavus, Respiratory insufficiency, Talipes equinovarus, Tracheomalacia, Vocal cord paralysis
EN-PFC3	SMS	0.447040315	0.00150825	Enzyme: Synthase	Eurexp|euxassay_011541|cervical, cervico-thoracic, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, incisor, left lung, mantle layer, metanephros, molar, neural retina, right lung, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|300105;HPO|6611|Abnormality of the pinna, Bifid uvula, Broad-based gait, Cleft palate, Cryptorchidism, Decreased muscle mass, Dental crowding, Dysarthria, Facial asymmetry, Generalized hypotonia, High, narrow palate, Hyperextensibility of the finger joints, Hypertelorism, Intellectual disability, Kyphoscoliosis, Long fingers, Long hallux, Long palm, Mandibular prognathia, Narrow palm, Nasal speech, Osteoporosis, Pectus carinatum, Pectus excavatum, Phenotypic variability, Recurrent fractures, Seizures, Severe Myopia, Short philtrum, Short stature, Talipes equinovarus, Tall stature, Thick lower lip vermilion, Webbed neck, Wide intermamillary distance, X-linked recessive inheritance
EN-PFC3	DPY19L1	0.373583257	0.001511012	Unclassified		OMIM|613892
EN-PFC3	SCN2A	0.762701033	0.001538544	Voltage gated channel	BrainSpLMD|6326	SFARI||Autism, 1 - High confidence;OMIM|182390;HPO|6326|Abnormality of skin morphology, Abnormality of vision, Ataxia, Autosomal dominant inheritance, Choreoathetosis, Cutaneous photosensitivity, Cyanosis, Deeply set eye, Developmental regression, Dialeptic seizures, Dysesthesia, Dyskinesia, EEG abnormality, Epileptic encephalopathy, Febrile seizures, Focal clonic seizures, Focal seizures, Focal seizures, afebril, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Generalized tonic-clonic seizures with focal onset, Global developmental delay, Hypertonia, Hypsarrhythmia, Infantile onset, Infantile spasms, Muscular hypotonia, Myoclonus, Neurodevelopmental delay, Normal interictal EEG, Obtundation status, Pschomotor retardation, Reduced consciousness/confusion, Seizures, Spastic tetraplegia, Status epilepticus, Tremor, Variable expressivity
EN-PFC3	FAM117B	0.50622665	0.001555343	Unclassified	BrainSpLMD|150864	
EN-PFC3	MED4	0.841789976	0.001627313	Translation regulatory protein	BrainSpLMD|29079	OMIM|605718
EN-PFC3	D4S234E	0.518242735	0.001634939			
EN-PFC3	TRAPPC6B	1.234203967	0.001643899	Unclassified	BrainSpLMD|122553;Eurexp|euxassay_006829|cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|610397
EN-PFC3	SMN2	0.452814331	0.001681812	RNA binding protein		OMIM|601627
EN-PFC3	SHANK2	0.780471429	0.001682969	Structural protein	BrainSpLMD|22941	SFARI||Autism, 2 - Strong candidate;OMIM|603290
EN-PFC3	CTC.308K20.3	0.476894234	0.00169404			
EN-PFC3	FTO	0.714620958	0.001740795	Unclassified	BrainSpLMD|79068	OMIM|610966;HPO|79068|Anteverted nares, Autosomal recessive inheritance, Bifid uvula, Brachydactyly, Cleft palate, Coarse facial features, Cryptorchidism, Cutis marmorata, Dandy-Walker malformation, Failure to thrive, Global developmental delay, Hydrocephalus, Hypertonia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Lissencephaly, Macroglossia, Microcephaly, Obesity, Patent ductus arteriosus, Protruding tongue, Retrognathia, Seizures, Sensorineural hearing impairment, Short neck, Skull asymmetry, Small nail, Umbilical hernia, Ventricular septal defect
EN-PFC3	NT5DC3	1.626839629	0.001889604	Unclassified	BrainSpLMD|51559	OMIM|611076
EN-PFC3	SLCO3A1	0.993156158	0.001890812	Membrane transport protein	BrainSpLMD|28232;Eurexp|euxassay_000780|cervical, cervico-thoracic, dorsal root ganglion, thoracic, vagus X	OMIM|612435
EN-PFC3	TUBA1C	0.378572831	0.001910062	Cytoskeletal protein	BrainSpLMD|84790	
EN-PFC3	PWAR6	0.757138048	0.001913689			
EN-PFC3	AKAP9	0.320219822	0.001979755	Adapter molecule	BrainSpLMD|10142;Eurexp|euxassay_007743|embryo	SFARI||Autism, 3 - Suggestive evidence;OMIM|604001;COSMIC||papillary thyroid;HPO|10142|Autosomal dominant inheritance, Prolonged QT interval, Syncope
EN-PFC3	UNC5D	0.813025828	0.001995646	Unclassified	BrainSpLMD|137970;Eurexp|euxassay_012466|basal plate, clavicle, incisor, lip, mantle layer, molar, palatal shelf, respiratory, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|84240	OMIM|616466
EN-PFC3	ACTR3	0.983287252	0.002009185	Cytoskeletal protein	BrainSpLMD|10096	OMIM|604222
EN-PFC3	LPPR1	0.657837334	0.002023216			
EN-PFC3	LDB2	0.571108419	0.002255809	Transcription regulatory protein	BrainSpLMD|9079;BrainSpMouseDev|16597	OMIM|603450
EN-PFC3	AKR1C2	1.049104137	0.002344429	Enzyme: Dehydrogenase	BrainSpLMD|1646	OMIM|600450;HPO|1646|Ambiguous genitalia, Autosomal recessive inheritance, Cryptorchidism, Male pseudohermaphroditism, Sex reversal
EN-PFC3	TTC3	0.347566325	0.002426938	Unclassified	BrainSpLMD|7267	OMIM|602259
EN-PFC3	NDUFS5	0.318672138	0.002495971	Enzyme: Oxidoreductase	BrainSpLMD|4725	OMIM|603847
EN-PFC3	GTF2H5	0.441109672	0.002510856	Transcription factor	BrainSpLMD|404672;Eurexp|euxassay_003129|cervical, cervico-thoracic, chondrocranium, clavicle, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, marginal layer, oesophagus, olfactory, oral epithelium, pancreas, submandibular gland primordium, thoracic, thymus primordium, tooth, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42310	OMIM|608780;HPO|404672|Asthma, Autosomal recessive inheritance, Brittle hair, Cataract, Congenital nonbullous ichthyosiform erythroderma, Decreased fertility, Erythroderma, Intellectual disability, Joint contracture of the hand, Short stature, Tiger tail banding
EN-PFC3	LINC01158	0.41970409	0.002570753			
EN-PFC3	AKAP13	0.933266274	0.002833299	Guanine nucleotide exchange factor	BrainSpLMD|11214	OMIM|604686
EN-PFC3	VLDLR	0.600784355	0.002866671	Cell surface receptor	BrainSpLMD|7436;Eurexp|euxassay_018469|clavicle, cortex, ductus deferens, incisor, mandible, mantle layer, marginal layer, maxilla, neural retina, olfactory, orbito-sphenoid, rib, ureter, ventral grey horn, ventricular layer, vomeronasal organ, wall	SFARI||Autism, 5 - Hypothesized but untested;OMIM|192977;HPO|7436|Abnormality of metabolism/homeostasis, Ataxia, Autosomal recessive inheritance, Broad-based gait, Cataract, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral palsy, Congenital onset, Cortical gyral simplification, Delayed speech and language development, Dysarthria, Dysdiadochokinesis, Dysmetria, Gait ataxia, Gait disturbance, Gaze-evoked nystagmus, Generalized hypotonia, Global developmental delay, Hyperreflexia, Hypoplasia of the brainstem, Intellectual disability, Intention tremor, Muscular hypotonia, Nonprogressive, Pachygyria, Pes planus, Poor speech, Seizures, Short stature, Skeletal muscle atrophy, Strabismus, Truncal ataxia
EN-PFC3	R3HDM1	0.991179537	0.002937832	Unclassified	BrainSpLMD|23518	
EN-PFC3	TMX2	0.941765197	0.003052007	Integral membrane protein	Eurexp|euxassay_005201|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, lung, mantle layer, midbrain, olfactory lobe, retina, spinal cord, submandibular gland primordium, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|616715
EN-PFC3	SEMA3A	0.538340425	0.003069286	Ligand	BrainSpLMD|10371;BrainSpMouseDev|20109	OMIM|603961;HPO|10371|Abnormality of the voice, Anosmia, Anterior hypopituitarism, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Delayed puberty, Erectile abnormalities, Hypogonadotrophic hypogonadism, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Reduced bone mineral density
EN-PFC3	NEUROD1	0.852569377	0.00309579	Transcription factor	BrainSpLMD|4760;Eurexp|euxassay_019467|dorsal grey horn, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, pancreas, pineal primordium, pituitary, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17779	OMIM|601724;HPO|4760|Autosomal dominant inheritance, Maturity-onset diabetes of the young
EN-PFC3	PRKACB	0.834348584	0.003117841	Serine/threonine kinase	BrainSpLMD|5567	OMIM|176892
EN-PFC3	MAP4	0.477116027	0.003202238	Cytoskeletal associated protein	BrainSpLMD|4134	OMIM|157132
EN-PFC3	MSL3	1.627254371	0.003287999	Transcription factor	BrainSpLMD|10943	OMIM|300609
EN-PFC3	EIF4G3	0.690278405	0.003318455	Translation regulatory protein	BrainSpLMD|8672;Eurexp|euxassay_016776|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII	OMIM|603929
EN-PFC3	TUBBP2	0.328321684	0.00336397			
EN-PFC3	HMGCR	0.429047398	0.003364967	Enzyme: Reductase	BrainSpLMD|3156;Eurexp|euxassay_004330|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nucleus pulposus, spinal cord, thoracic, trigeminal V, vagus X	OMIM|142910
EN-PFC3	ST8SIA2	0.611490455	0.003416501	Enzyme: Sialyltransferase	BrainSpLMD|8128	SFARI||Autism, No category;OMIM|602546
EN-PFC3	NCDN	0.979487684	0.003429546	Unclassified	BrainSpLMD|23154;Eurexp|euxassay_001888|dorsal root ganglion, glossopharyngeal IX, marginal layer, trigeminal V, ventral grey horn	OMIM|608458
EN-PFC3	ZNF300	0.906055325	0.003521888	DNA binding protein	BrainSpLMD|91975	OMIM|612429
EN-PFC3	DTNA	0.398335632	0.003552458	Unclassified	BrainSpLMD|1837;Eurexp|euxassay_010455|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|601239;HPO|1837|Atrial fibrillation, Autosomal dominant inheritance, Congestive heart failure, Hypoplastic left heart, Left ventricular hypertrophy, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Patent ductus arteriosus, Sudden cardiac death, Ventricular arrhythmia, Ventricular septal defect
EN-PFC3	NUTF2	0.477781628	0.003596711	Transport/cargo protein	BrainSpLMD|10204;Eurexp|euxassay_015153|basal columns, brain, central nervous system, cerebellum, cerebral cortex, cortex, dermal component, dermis, dorsal root ganglion, drainage component, ear, epidermal component, epithelium, facial VII, floorplate, forebrain, incisor, inner ear, lateral wall, left lung, liver, liver and biliary system, lobe, lower jaw, lung, male, mandible, mantle layer, marginal layer, medullary region, mesenchyme, metanephros, molar, nasal cavity, nervous system, nucleus pulposus, otic capsule, petrous part, physiological umbilical hernia, renal/urinary system, rest of cerebellum, right lung, sublingual gland primordium, submandibular gland primordium, telencephalon, temporal bone, testis, thymus primordium, tooth, trigeminal V, turbinate bones, upper jaw, vagus X, ventricular layer, vibrissa	OMIM|605813
EN-PFC3	TMEM57	0.521852976	0.003626652			
EN-PFC3	HILPDA	0.932646323	0.003665274	Integral membrane protein	BrainSpLMD|29923	
EN-PFC3	AC007318.5	0.626285509	0.003682995			
EN-PFC3	CCDC28B	0.922100237	0.00370641	Unclassified	BrainSpLMD|79140;Eurexp|euxassay_012331|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thymus primordium, thyroid, trigeminal V, vagus X	OMIM|610162
EN-PFC3	RRP15	0.363203293	0.003799857	Unclassified	BrainSpLMD|51018	OMIM|611193
EN-PFC3	SLC41A2	0.405296726	0.003988647	Membrane transport protein	BrainSpLMD|84102	OMIM|610802
EN-PFC3	FAM213A	0.647980928	0.004054196	Unclassified	BrainSpLMD|84293;Eurexp|euxassay_008864|bladder, brain, calyces, cervical, cervico-thoracic, cochlea, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, incisor, left lung, liver, lung, midgut, molar, naris, nasal cavity, naso-lacrimal duct, olfactory, pelvis, pharyngo-tympanic tube, rectum, retina, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thoracic, trigeminal V, ureter, utricle, vagus X, vestibulocochlear VIII, vibrissa	OMIM|617165
EN-PFC3	ZNF124	0.636618655	0.004083331	DNA binding protein	BrainSpLMD|7678	OMIM|194631
EN-PFC3	BLCAP	0.468382377	0.004130846	Integral membrane protein	BrainSpLMD|10904;Eurexp|euxassay_005827|brain, spinal cord	OMIM|613110
EN-PFC3	ZNF692	0.55194308	0.004264489	Transcription factor	BrainSpLMD|55657	OMIM|617758
EN-PFC3	MCTP1	0.59406523	0.00443466	Calcium binding protein	BrainSpLMD|79772	OMIM|616296
EN-PFC3	TTC3P1	1.205600958	0.004439595			
EN-PFC3	PAQR7	0.523676277	0.004467819	Cell surface receptor	BrainSpLMD|164091;Eurexp|euxassay_006273|ventricular layer	OMIM|607779
EN-PFC3	3-Sep	0.282633539	0.004563173			
EN-PFC3	HDGFRP3	0.577726611	0.004652552			
EN-PFC3	SLC35E2B	0.389160545	0.004789434	-	BrainSpLMD|728661	
EN-PFC3	RTN3	0.368600062	0.004815266	Integral membrane protein	BrainSpLMD|10313;Eurexp|euxassay_008415|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|604249
EN-PFC3	PSMA6P1	0.729718987	0.004933005			
EN-PFC3	PKIA	0.988373143	0.004992897	Enzyme regulator	BrainSpLMD|5569;Eurexp|euxassay_018045|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mesenchyme, neural retina, olfactory, spinal cord, stroma, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|606059
EN-PFC3	FAM217B	0.748411576	0.005456466	Unclassified	BrainSpLMD|63939	
EN-PFC3	ADAM19	1.009123696	0.00546312	Metallo protease	BrainSpLMD|8728;Eurexp|euxassay_002478|bladder, mantle layer;BrainSpMouseDev|11280	OMIM|603640
EN-PFC3	VPS26B	0.297347466	0.005479362	Transport/cargo protein	BrainSpLMD|112936	OMIM|610027
EN-PFC3	HSBP1	0.383312379	0.00551607	Transcription regulatory protein	BrainSpLMD|3281;Eurexp|euxassay_003563|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|604553
EN-PFC3	ERO1L	0.269526764	0.005579237			
EN-PFC3	SEC11C	0.87359269	0.005766893	Aminopeptidase	BrainSpLMD|90701;Eurexp|euxassay_003588|clavicle, olfactory, orbito-sphenoid, submandibular gland primordium, thymus primordium, trachea	
EN-PFC3	RALGPS1	0.72250058	0.005943252	Guanine nucleotide exchange factor	BrainSpLMD|9649	OMIM|614444
EN-PFC3	GDI1	0.388773812	0.006008691	GTPase activating protein	BrainSpLMD|2664;Eurexp|euxassay_004022|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|300104;HPO|2664|Generalized hypotonia, Global developmental delay, Intellectual disability, X-linked dominant inheritance, X-linked inheritance
EN-PFC3	PCLO	0.523977606	0.006047072	Cytoskeletal protein	BrainSpLMD|27445;Eurexp|euxassay_009714|brain, cervical, cervico-thoracic, olfactory, spinal cord, thoracic;BrainSpMouseDev|26621	OMIM|604918;HPO|27445|Autosomal recessive inheritance, Brachycephaly, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy, Congenital onset, Decreased body weight, Depressed nasal bridge, Downturned corners of mouth, Full cheeks, Global developmental delay, Hearing impairment, High palate, High, narrow palate, Hyperreflexia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Long palpebral fissure, Long philtrum, Low-set ears, Macrotia, Muscular hypotonia of the trunk, Neonatal hypotonia, Optic atrophy, Poor head control, Progressive, Progressive microcephaly, Proptosis, Seizures, Short stature, Spasticity
EN-PFC3	HERC2P2	0.379960076	0.006059173	-		
EN-PFC3	SMG1P1	0.280223831	0.006092211			
EN-PFC3	HOMER1	1.28620149	0.006122339	Adapter molecule	BrainSpLMD|9456;BrainSpMouseDev|26303	SFARI||Autism, 4 - Minimal evidence;OMIM|604798
EN-PFC3	ANO4	0.694076729	0.006374385	Integral membrane protein	BrainSpLMD|121601;Eurexp|euxassay_010917|dorsal root ganglion, trigeminal V	OMIM|610111
EN-PFC3	CEP170P1	0.256729634	0.006595032			
EN-PFC3	DERA	0.833845242	0.006661479	Enzyme: Lyase	BrainSpLMD|51071	
EN-PFC3	TRIM36	0.422905284	0.006678014	Unclassified	BrainSpLMD|55521;Eurexp|euxassay_012029|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, trigeminal V, vagus X, ventral grey horn, vomeronasal organ;BrainSpMouseDev|27849	OMIM|609317;HPO|55521|Anencephaly, Spina bifida
EN-PFC3	PAFAH1B2	0.416083901	0.006741313	Enzyme: Hydrolase	BrainSpLMD|5049;Eurexp|euxassay_003490|embryo	OMIM|602508;COSMIC||MLCLS
EN-PFC3	WIPF3	0.684241019	0.006854845	Cytoskeletal associated protein	BrainSpLMD|644150	OMIM|612432
EN-PFC3	TMEM108.AS1	0.785976685	0.006941797			
EN-PFC3	DPYSL5	0.62672274	0.007045124	Unclassified	BrainSpLMD|56896;BrainSpMouseDev|41755	OMIM|608383
EN-PFC3	CLVS1	1.11860513	0.007339596	Unclassified	BrainSpLMD|157807	OMIM|611292
EN-PFC3	DRAXIN	0.709332554	0.007474027	Unclassified	BrainSpLMD|374946;Eurexp|euxassay_006367|cerebral cortex, dorsal root ganglion, glossopharyngeal IX, lateral wall, mantle layer, marginal layer, meninges, neural retina, pons, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|46274	OMIM|612682
EN-PFC3	CADM2	0.930768919	0.007498643	Adhesion molecule	BrainSpLMD|253559;Eurexp|euxassay_011528|basioccipital bone, femur, humerus, mantle layer, midbrain, orbito-sphenoid, pelvic girdle, petrous part, scapula, trigeminal V, turbinate	SFARI||Autism, No category;OMIM|609938
EN-PFC3	FAM115A	0.371015066	0.007859066			
EN-PFC3	HECW2	1.150828701	0.007982443	Ubiquitin proteasome system protein		SFARI||Autism, 3 - Suggestive evidence;OMIM|617245;HPO|57520|Abnormal facial shape, Autosomal dominant inheritance, Bulbous nose, Cerebral atrophy, Depressed nasal bridge, EEG abnormality, Epicanthus, Intellectual disability, Macrotia, Midface retrusion, Nasogastric tube feeding, Nystagmus, Recurrent hand flapping, Seizures, Self-injurious behavior, Sparse eyebrow, Telecanthus, Thick eyebrow, Thick lower lip vermilion, Wide mouth
EN-PFC3	TMOD2	0.660294742	0.008056433	Cytoskeletal associated protein	BrainSpLMD|29767	OMIM|602928
EN-PFC3	PSIP1	0.29193208	0.008061407	Transcription regulatory protein	BrainSpLMD|11168;Eurexp|euxassay_008131|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, trigeminal V, vagus X, vibrissa, vomeronasal organ	OMIM|603620;COSMIC||AML
EN-PFC3	RP11.283I3.6	0.459024729	0.008158364			
EN-PFC3	ACVR2A	0.338185063	0.008165798	Receptor serine/threonine kinase	BrainSpLMD|92;BrainSpMouseDev|11268	OMIM|102581;COSMIC||large intestine carcinoma, stomach carcinoma, pancreatic carcinoma, biliary tract, oesophagus
EN-PFC3	PPFIA2	0.58061274	0.008249735	Anchor protein	BrainSpLMD|8499	OMIM|603143
EN-PFC3	OSBPL10	1.460326596	0.008379317	Transport/cargo protein	BrainSpLMD|114884;Eurexp|euxassay_008182|dorsal root ganglion, glossopharyngeal IX, mantle layer, testis, trigeminal V, ventral grey horn	OMIM|606738
EN-PFC3	ATAT1	0.604285693	0.008481591	Unclassified	BrainSpLMD|79969;Eurexp|euxassay_009892|brain, neural retina, spinal cord	OMIM|615556
EN-PFC3	SEMA6D	0.871274963	0.008560517	Membrane bound ligand	BrainSpLMD|80031;Eurexp|euxassay_010735|dorsal root ganglion, embryo, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|84750	OMIM|609295
EN-PFC3	ICA1L	0.709250257	0.008681171	Unclassified	BrainSpLMD|130026	
EN-PFC3	ESD	0.594622587	0.008693145	Enzyme: Esterase	BrainSpLMD|2098	OMIM|133280
EN-PFC3	PSMD11	0.63041501	0.008729217	Ubiquitin proteasome system protein	BrainSpLMD|5717	OMIM|604449
EN-PFC3	GABARAPL2	0.460766797	0.008811617	Transport/cargo protein	BrainSpLMD|11345	OMIM|607452
EN-PFC3	RP11.629B11.4	0.42421017	0.008822454			
EN-PFC3	TCEAL4	0.465541904	0.008846647	Unclassified	BrainSpLMD|79921	
EN-PFC3	BMI1	0.9100031	0.008858265	DNA binding protein	BrainSpLMD|648;Eurexp|euxassay_008247|brain, cartilaginous ring, cortex, diaphragm, extraembryonic component, incisor, left lung, midgut, molar, oesophagus, olfactory, pancreas, right lung, spinal cord, stomach, submandibular gland primordium, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|164831
EN-PFC3	FKBP1A	0.295998698	0.009080007	Enzyme: Isomerase	BrainSpLMD|2280;Eurexp|euxassay_003477|Meckel's cartilage, incisor, lip, mantle layer, molar, orbito-sphenoid, ventral grey horn, ventricular layer	OMIM|186945
EN-PFC3	VTA1	0.459958245	0.009086574	Unclassified	BrainSpLMD|51534	OMIM|610902
EN-PFC3	ERC2	0.667801034	0.009090229	Cytoskeletal associated protein	BrainSpLMD|26059;Eurexp|euxassay_003848|adenohypophysis, adrenal gland, bladder, brain, cervical, cervico-thoracic, dermis, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, lung, metanephros, midgut, oesophagus, olfactory, retina, spinal cord, stomach, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|617250
EN-PFC3	AC018643.4	0.824171551	0.009126981			
EN-PFC3	ZNF37BP	0.829582258	0.009215721		BrainSpLMD|100129482	
EN-PFC3	KIF5A	0.321393886	0.009261777	Motor protein	BrainSpLMD|3798;Eurexp|euxassay_018169|Meckel's cartilage, axial skeleton, basioccipital bone, brain, cervical, cervico-thoracic, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, olfactory, orbito-sphenoid, pelvic girdle, radius, rib, scapula, spinal cord, temporal bone, thoracic, tibia, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|602821;HPO|3798|Ankle clonus, Athetosis, Autosomal dominant inheritance, Babinski sign, Chorea, Congenital onset, Cortical visual impairment, Delayed myelination, Developmental stagnation, Distal sensory impairment, Dysphagia, Feeding difficulties, Generalized hypotonia, Hyperreflexia, Impaired vibration sensation in the lower limbs, Knee clonus, Lower limb muscle weakness, Microcephaly, Nystagmus, Pes cavus, Phenotypic variability, Progressive, Progressive leukoencephalopathy, Ptosis, Scoliosis, Spastic gait, Spastic paraplegia, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
EN-PFC3	CH17.431G21.1	0.273758145	0.009276058			
EN-PFC3	APLP1	1.022655459	0.009349533	Transcription regulatory protein;Unclassified	BrainSpLMD|333;Eurexp|euxassay_005371|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, male, nasal septum, neural retina, olfactory, respiratory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|11590	OMIM|104775
EN-PFC3	ZNHIT6	0.685431843	0.009526198	Unclassified	BrainSpLMD|54680	
EN-PFC3	WDR20	0.411662285	0.009603557	Unclassified	BrainSpLMD|91833	OMIM|617741
EN-PFC3	L3MBTL3	0.43345293	0.009811462	Transcription regulatory protein	BrainSpLMD|84456	
EN-PFC3	CCDC112	0.567038145	0.009840075	Unclassified	BrainSpLMD|153733	
EN-PFC3	APBA1	1.406747657	0.009861885	Adapter molecule	BrainSpLMD|320;Eurexp|euxassay_007658|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn;BrainSpMouseDev|106859	OMIM|602414
EN-V1-3	UNC5C	3.506350417	0	Cell surface receptor	BrainSpLMD|8633;Eurexp|euxassay_011939|axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, footplate, left lung, lip, mantle layer, marginal layer, metanephros, naris, nasal septum, orbito-sphenoid, pelvic girdle, petrous part, rib, right lung, tibia, turbinate bones, vault of skull, ventral grey horn;BrainSpMouseDev|22010	OMIM|603610
EN-V1-3	FAM19A1	3.343728534	0	Chemokine	BrainSpLMD|407738	OMIM|617495
EN-V1-3	MET	3.298562359	0	Receptor tyrosine kinase	BrainSpLMD|4233;Eurexp|euxassay_017756|lip, olfactory;BrainSpMouseDev|17064	SFARI||Autism, 2 - Strong candidate;OMIM|164860;COSMIC||papillary renal, head-neck squamous cell, papillary renal;HPO|4233|Abdominal pain, Autosomal dominant inheritance, Autosomal recessive inheritance, Elevated alpha-fetoprotein, Epigastric pain, Fatigue, Hepatic fibrosis, Hepatic necrosis, Hepatocellular carcinoma, Hepatomegaly, Heterogeneous, Incomplete penetrance, Micronodular cirrhosis, Papillary renal cell carcinoma, Portal vein thrombosis, Somatic mutation, Subacute progressive viral hepatitis, Vomiting
EN-V1-3	ADAMTSL3	3.279812709	0	Metallo protease	BrainSpLMD|57188	OMIM|609199
EN-V1-3	KCNH5	3.266159899	0	Voltage gated channel	BrainSpLMD|27133;Eurexp|euxassay_006564|embryo	OMIM|605716
EN-V1-3	CDH13	3.112944262	0	Adhesion molecule	BrainSpLMD|1012;Eurexp|euxassay_011981|Meckel's cartilage, dorsal root ganglion, femur, fibula, handplate, humerus, lip, mantle layer, marginal layer, phalanx, scapula, tarsus, tibia, trigeminal V, vagus X;BrainSpMouseDev|12339	OMIM|601364
EN-V1-3	ACTN2	3.073936047	0	Cytoskeletal associated protein	BrainSpLMD|88	OMIM|102573;HPO|88|Autosomal dominant inheritance, Dilated cardiomyopathy, Endocardial fibroelastosis, Endocardial fibrosis, Phenotypic variability
EN-V1-3	SYBU	2.918724501	0		BrainSpLMD|55638;Eurexp|euxassay_006982|corpus striatum, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mandible, mantle layer, marginal layer, maxilla, midbrain, nasal cavity, olfactory cortex, pancreas, retina, spinal cord, stomach, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611568
EN-V1-3	LPL	2.889852441	0	Enzyme: Lipase	BrainSpLMD|4023;Eurexp|euxassay_004410|anterior, atrium, choroid plexus, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, liver, mantle layer, marginal layer, mesenchyme, olfactory, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, ventricle;BrainSpMouseDev|16726	SFARI||Autism, No category;OMIM|609708;HPO|4023|Autosomal dominant inheritance, Autosomal recessive inheritance, Episodic abdominal pain, Eruptive xanthomas, Hepatosplenomegaly, Hypercholesterolemia, Increased circulating chylomicron levels, Increased circulating low-density lipoprotein levels, Increased circulating very-low-density lipoprotein levels, Jaundice, Lactescent serum, Lipemia retinalis, Myocardial infarction, Nausea, Pancreatitis, Splenomegaly, Vomiting
EN-V1-3	PTK2B	2.8445029	0	Tyrosine kinase	BrainSpLMD|2185	OMIM|601212
EN-V1-3	ADCY1	2.788079713	0	Adenylate cyclase	BrainSpLMD|107;Eurexp|euxassay_014209|facial VII, mantle layer, trigeminal V;BrainSpMouseDev|129123	OMIM|103072;HPO|107|Autosomal recessive inheritance, Prelingual sensorineural hearing impairment
EN-V1-3	CAMK2B	2.755634263	0	Serine/threonine kinase	BrainSpLMD|816;Eurexp|euxassay_009572|brain, calyces, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, extraembryonic component, facial VII, glossopharyngeal IX, mesenchyme, midgut, neural retina, olfactory, paraxial mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|607707
EN-V1-3	MEF2C	2.731278721	0	Transcription regulatory protein	BrainSpLMD|4208;Eurexp|euxassay_018172|axial skeleton, clavicle, diaphragm, dorsal grey horn, glossopharyngeal IX, incisor, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metatarsus, orbito-sphenoid, phalanx, rest of mesenchyme, rib, skeletal muscle, trigeminal V, vault of skull, vertebral axis muscle system, vibrissa;BrainSpMouseDev|17029	SFARI||Autism, 4 - Minimal evidence;OMIM|600662;HPO|4208|Anteverted nares, Autistic behavior, Autosomal dominant inheritance, Broad forehead, Delayed speech and language development, Depressed nasal bridge, Downturned corners of mouth, Generalized hypotonia, High forehead, Hypertelorism, Hypoplasia of the corpus callosum, Inability to walk, Intellectual disability, severe, Low-set ears, Motor delay, Muscular hypotonia, Poor eye contact, Seizures, Short chin, Short nose, Short philtrum, Sporadic, Stereotypy, Upslanted palpebral fissure, Ventriculomegaly
EN-V1-3	SATB2.AS1	2.685526958	0			
EN-V1-3	TRIM67	2.67958662	0	Ubiquitin proteasome system protein	BrainSpLMD|440730	OMIM|610584
EN-V1-3	LINC00710	2.605835009	0			
EN-V1-3	SLITRK5	2.582370662	0	Integral membrane protein	BrainSpLMD|26050	SFARI||Autism, No category;OMIM|609680
EN-V1-3	RYR2	2.581543563	0	Intracellular ligand gated channel	BrainSpLMD|6262	OMIM|180902;HPO|6262|Autosomal dominant inheritance, Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardias, Right ventricular cardiomyopathy, Seizures, Sudden death, Syncope, Ventricular arrhythmia, Ventricular tachycardia, Vertigo
EN-V1-3	ABLIM1	2.503371495	0	Cytoskeletal associated protein	BrainSpLMD|3983	OMIM|602330
EN-V1-3	ITPR1	2.49338345	0	Intracellular ligand gated channel	BrainSpLMD|3708;Eurexp|euxassay_006317|choroid invagination, choroid plexus, roof plate;BrainSpMouseDev|16211	SFARI||Autism, 4 - Minimal evidence;OMIM|147265;HPO|3708|Abnormality of movement, Aniridia, Ataxia, Autosomal recessive inheritance, Cerebellar hypoplasia, Global developmental delay, Hypoplasia of the iris, Intellectual disability, Mask-like facies, Motor delay, Muscular hypotonia, Nystagmus, Postural tremor, Scanning speech, Slurred speech, Visual impairment
EN-V1-3	FRMPD4	2.451581611	0	Cytoskeletal associated protein	Eurexp|euxassay_010801|choroid plexus, dorsal root ganglion, facial VII, trigeminal V	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300838;HPO|9758|Global developmental delay, Intellectual disability, X-linked recessive inheritance
EN-V1-3	NEFM	2.410309065	0	Structural protein	BrainSpLMD|4741;Eurexp|euxassay_009463|basal plate, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lip, mantle layer, marginal layer, midgut, neural retina, pons, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|162250
EN-V1-3	CALN1	2.381534026	0	Calcium binding protein	BrainSpLMD|83698	OMIM|607176
EN-V1-3	INHBA	2.37777489	0	Ligand	BrainSpLMD|3624;Eurexp|euxassay_003294|axial skeleton, cranium, forelimb, hindlimb, incisor, mantle layer, molar, naris, nasopharynx, orbito-sphenoid, penis, pharyngo-tympanic tube, respiratory, rib, skeleton, trachea, vibrissa;BrainSpMouseDev|16096	OMIM|147290
EN-V1-3	PPP1R14C	2.375299833	0	Regulatory/other subunit	BrainSpLMD|81706	OMIM|613242
EN-V1-3	CSMD1	2.338785193	0	Integral membrane protein	BrainSpLMD|64478	SFARI||Autism, No category;OMIM|608397
EN-V1-3	RSPO3	2.336730695	0	Ligand;Extracellular matrix protein	BrainSpLMD|84870;Eurexp|euxassay_011723|mantle layer, mesenchyme, orbito-sphenoid, pectoral girdle and thoracic body wall, penis;BrainSpMouseDev|48621	OMIM|610574;COSMIC||colorectal
EN-V1-3	NEFL	2.326570915	0	Structural protein	BrainSpLMD|4747;Eurexp|euxassay_002969|adenohypophysis, adrenal gland, anal canal, axial muscle, axial skeleton, basal plate, bladder, body-wall mesenchyme, cervico-thoracic, dorsal root ganglion, extrinsic ocular muscle, facial VII, foregut-midgut junction, glossopharyngeal IX, hindbrain, incisor, limb, loop, mantle layer, marginal layer, maxilla, medulla, mesenchyme, midgut, molar, neural retina, oesophagus, oral epithelium, spinal cord, stomach, stroma, temporo-mandibular joint primordium, thoracic, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	SFARI||Autism, 5 - Hypothesized but untested;OMIM|162280;HPO|4747|Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Clusters of axonal regeneration, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Flexion contracture, Foot dorsiflexor weakness, Hammertoe, Heterogeneous, Hyporeflexia, Hypotrophy of the small hand muscles, Juvenile onset, Motor delay, Myelin outfoldings, Onion bulb formation, Pes cavus, Segmental peripheral demyelination/remyelination, Split hand, Steppage gait, Ulnar claw, Variable expressivity
EN-V1-3	SLC26A4.AS1	2.316577925	0			
EN-V1-3	DLGAP2	2.313401303	0	Unclassified	BrainSpLMD|9228;Eurexp|euxassay_010960|basioccipital bone, cervical, cervico-thoracic, mantle layer, orbito-sphenoid, petrous part, thoracic, trigeminal V, vagus X	SFARI||Autism, 4 - Minimal evidence;OMIM|605438
EN-V1-3	C1orf115	2.307509133	0	Unclassified	BrainSpLMD|79762	
EN-V1-3	LRRC4C	2.29506437	0	Integral membrane protein	BrainSpLMD|57689	OMIM|608817
EN-V1-3	GFRA2	2.292466743	0	Receptor tyrosine kinase	BrainSpLMD|2675;Eurexp|euxassay_009048|dorsal root ganglion, mandible, mantle layer, maxilla, penis, trigeminal V, ventral grey horn, vibrissa;BrainSpMouseDev|14362	OMIM|601956
EN-V1-3	PALM2	2.291274396	0	Unclassified		
EN-V1-3	PRKCB	2.288650509	0	Serine/threonine kinase	BrainSpLMD|5579;BrainSpMouseDev|18515	SFARI||Autism, 3 - Suggestive evidence;OMIM|176970;COSMIC||adult T-cell lymphoma-leukaemia
EN-V1-3	TMOD1	2.264859982	0	Cytoskeletal associated protein	BrainSpLMD|7111;Eurexp|euxassay_011803|cochlea, extrinsic ocular muscle, lens, saccule, skeletal muscle, utricle, ventricle, vertebral axis muscle system	OMIM|190930
EN-V1-3	KIAA0319	2.151879995	0	Integral membrane protein	BrainSpLMD|9856;Eurexp|euxassay_011052|dorsal root ganglion, olfactory	OMIM|609269
EN-V1-3	PTPN2	2.140764734	0	Tyrosine phosphatase	BrainSpLMD|5771;Eurexp|euxassay_001391|lower jaw, lung, urethra, ventricle	OMIM|176887;HPO|5771|Antinuclear antibody positivity, Apraxia, Arthralgia, Dental malocclusion, Elevated C-reactive protein level, Elevated erythrocyte sedimentation rate, Iridocyclitis, Joint dislocation, Joint swelling, Juvenile rheumatoid arthritis, Limitation of joint mobility, Polyarticular arthritis
EN-V1-3	ARPP21	2.139368292	0		BrainSpLMD|10777;Eurexp|euxassay_008422|brain, diaphragm, dorsal grey horn, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, head mesenchyme, lip, mantle layer, marginal layer, mesenchyme, olfactory, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, spinal cord, tail, thymus primordium, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|605488
EN-V1-3	JAKMIP1	2.11075389	0	Adapter molecule	BrainSpLMD|152789	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611195
EN-V1-3	SCG2	2.100945117	0	Secreted polypeptide	BrainSpLMD|7857;Eurexp|euxassay_018265|adrenal gland, dorsal grey horn, mantle layer, marginal layer, olfactory, pancreas, pituitary, ventral grey horn;BrainSpMouseDev|20017	OMIM|118930
EN-V1-3	CCBE1	2.083665351	0	Calcium binding protein	BrainSpLMD|147372	OMIM|612753;HPO|147372|Atrial septal defect, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Broad forehead, Camptodactyly, Conductive hearing impairment, Conical incisor, Coronal craniosynostosis, Cryptorchidism, Cutaneous finger syndactyly, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Ectopic kidney, Epicanthus, Erysipelas, Flat face, Gingival overgrowth, Glaucoma, Hirsutism, Horseshoe kidney, Hydronephrosis, Hyperactivity, Hypertelorism, Hypoalbuminemia, Hypoplastic iliac wing, Intellectual disability, Intestinal lymphangiectasia, Joint contracture of the hand, Low-set ears, Lymphedema, Malar flattening, Mild postnatal growth retardation, Narrow mouth, Narrow palate, Oligodontia, Pachygyria, Pectus excavatum, Pericardial effusion, Pericardial lymphangiectasia, Periorbital edema, Pleural effusion, Pleural lymphangiectasia, Protein-losing enteropathy, Rectal prolapse, Retrognathia, Scoliosis, Seizures, Sensorineural hearing impairment, Short foot, Short palm, Small hand, Smooth philtrum, Spina bifida occulta, Talipes equinovarus, Thyroid lymphangiectasia, Umbilical hernia, Ventricular septal defect, Vesicoureteral reflux, Wide nasal bridge
EN-V1-3	NCALD	2.072650921	0	Calcium binding protein	BrainSpLMD|83988;Eurexp|euxassay_005524|cervical, cervico-thoracic, dorsal root ganglion, forebrain, hindbrain, midbrain, spinal cord, thoracic, trigeminal V, vagus X, vibrissa	OMIM|606722
EN-V1-3	CDH8	2.053174058	0	Adhesion molecule	BrainSpLMD|1006;Eurexp|euxassay_009793|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, nose, thoracic, thymus primordium, trigeminal V;BrainSpMouseDev|12349	SFARI||Autism, 4 - Minimal evidence;OMIM|603008
EN-V1-3	DYNC1I1	2.039113437	0	Motor protein	BrainSpLMD|1780;Eurexp|euxassay_006183|adrenal gland, cortex, diaphragm, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, mantle layer, marginal layer, ovary, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, tegmentum, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|603772
EN-V1-3	FAM49A	2.020812324	0	Unclassified	BrainSpLMD|81553;Eurexp|euxassay_007357|mantle layer	
EN-V1-3	NTRK2	2.019982524	0	Receptor tyrosine kinase	BrainSpLMD|4915;BrainSpMouseDev|17979	OMIM|600456;HPO|4915|Autosomal dominant inheritance, Facial asymmetry, Obesity, Polyphagia, Severe global developmental delay, Stereotypy
EN-V1-3	MYO16	2.018286277	0	Cytoskeletal associated protein	Eurexp|euxassay_011916|brain, mantle layer, spinal cord, tegmentum	SFARI||Autism, 4 - Minimal evidence;OMIM|615479
EN-V1-3	PIK3R1	2.008276537	0	Adapter molecule	BrainSpLMD|5295;Eurexp|euxassay_003253|incisor, lobe, ventricular layer, vibrissa;BrainSpMouseDev|18473	OMIM|171833;COSMIC||glioblastoma, ovarian, colorectal;HPO|5295|Abnormality of dental enamel, Abnormality of the immune system, Abnormality of the pupil, Agammaglobulinemia, Alopecia, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Birth length less than 3rd percentile, Cataract, Chronic otitis media, Clinodactyly, Conjunctivitis, Cough, Decreased antibody level in blood, Deeply set eye, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Dental malocclusion, Diabetes mellitus, Diarrhea, Dimple chin, Downturned corners of mouth, Enlarged epiphyses, Excessive wrinkled skin, Failure to thrive, Fatigue, Fever, Frontal bossing, Glaucoma, Glucose intolerance, Hyperglycemia, Hypodontia, Hypoplasia of the iris, Hypotrichosis, Immunodeficiency, Infantile onset, Inguinal hernia, Insulin resistance, Insulin-resistant diabetes mellitus, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Lipoatrophy, Lipodystrophy, Macrotia, Megalocornea, Microdontia, Micrognathia, Midface retrusion, Myopia, Neurological speech impairment, Neutropenia, Osteomyelitis, Poor appetite, Premature skin wrinkling, Prominent forehead, Radial deviation of finger, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent skin infections, Rieger anomaly, Sensorineural hearing impairment, Severe short stature, Sinusitis, Skin rash, Small for gestational age, Telecanthus, Thin skin, Triangular face, Underdeveloped nasal alae, Weight loss, Wide nasal bridge
EN-V1-3	UACA	2.00342211	0	Unclassified	BrainSpLMD|55075	OMIM|612516
EN-V1-3	DOCK9	1.982178993	0	Guanine nucleotide exchange factor	BrainSpLMD|23348	OMIM|607325
EN-V1-3	GNAZ	1.965193022	0	G protein	BrainSpLMD|2781;Eurexp|euxassay_001214|dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|139160
EN-V1-3	ELMOD1	1.950136235	0	Unclassified	BrainSpLMD|55531;Eurexp|euxassay_015979|mantle layer, ventral grey horn, vibrissa	OMIM|615456
EN-V1-3	NEBL	1.949797928	0	Cytoskeletal associated protein	BrainSpLMD|10529	OMIM|605491;HPO|10529|Dilated cardiomyopathy
EN-V1-3	SHISA9	1.910531635	0	Unclassified		OMIM|613346
EN-V1-3	PTPRK	1.909642301	0	Receptor tyrosine phosphatase	BrainSpLMD|5796;Eurexp|euxassay_009627|mantle layer, marginal layer, midgut, stomach, ventral grey horn, vibrissa;BrainSpMouseDev|19035	OMIM|602545;COSMIC||colorectal
EN-V1-3	SCN2A	1.898747062	0	Voltage gated channel	BrainSpLMD|6326	SFARI||Autism, 1 - High confidence;OMIM|182390;HPO|6326|Abnormality of skin morphology, Abnormality of vision, Ataxia, Autosomal dominant inheritance, Choreoathetosis, Cutaneous photosensitivity, Cyanosis, Deeply set eye, Developmental regression, Dialeptic seizures, Dysesthesia, Dyskinesia, EEG abnormality, Epileptic encephalopathy, Febrile seizures, Focal clonic seizures, Focal seizures, Focal seizures, afebril, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Generalized tonic-clonic seizures with focal onset, Global developmental delay, Hypertonia, Hypsarrhythmia, Infantile onset, Infantile spasms, Muscular hypotonia, Myoclonus, Neurodevelopmental delay, Normal interictal EEG, Obtundation status, Pschomotor retardation, Reduced consciousness/confusion, Seizures, Spastic tetraplegia, Status epilepticus, Tremor, Variable expressivity
EN-V1-3	NEO1	1.892797517	0	Cell surface receptor	BrainSpLMD|4756;Eurexp|euxassay_018461|axial skeleton, diaphragm, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lung, mandible, mantle layer, marginal layer, maxilla, nasal septum, pericardial cavity, turbinate bones, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|17774	SFARI||Autism, 4 - Minimal evidence;OMIM|601907
EN-V1-3	R3HDM1	1.885522736	0	Unclassified	BrainSpLMD|23518	
EN-V1-3	SYN3	1.860879377	0	Transport/cargo protein	BrainSpLMD|8224	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602705
EN-V1-3	TENM2	1.827149388	0	Translation regulatory protein		OMIM|610119
EN-V1-3	CSMD2	1.825201256	0	Unclassified	BrainSpLMD|114784;Eurexp|euxassay_013347|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	OMIM|608398
EN-V1-3	GRIN2B	1.798540283	0	Extracellular ligand gated channel	BrainSpLMD|2904;BrainSpMouseDev|14588	SFARI||Autism, 1 - High confidence;OMIM|138252;HPO|2904|Abnormality of skin morphology, Absent speech, Autosomal dominant inheritance, Behavioral abnormality, Developmental regression, EEG abnormality, Epileptic encephalopathy, Generalized hypotonia, Global developmental delay, Hypsarrhythmia, Infantile spasms, Intellectual disability, Myoclonus, Seizures, Variable expressivity
EN-V1-3	CAMKV	1.793309301	0	Unclassified	BrainSpLMD|79012;Eurexp|euxassay_007008|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, phalanx, spinal cord	OMIM|614993
EN-V1-3	GABBR2	1.782067493	0	G protein coupled receptor	BrainSpLMD|9568;BrainSpMouseDev|88950	OMIM|607340
EN-V1-3	DOK5	1.776608746	0	Adapter molecule	BrainSpLMD|55816	OMIM|608334
EN-V1-3	FGF12	1.7752986	0	Growth factor	BrainSpLMD|2257;BrainSpMouseDev|13944	OMIM|601513;HPO|2257|Absent speech, Autosomal dominant inheritance, Cerebellar atrophy, Chronic constipation, Developmental regression, Epileptic encephalopathy, Feeding difficulties, Hypsarrhythmia, Inability to walk, Limb ataxia, Multifocal epileptiform discharges, Muscular hypotonia of the trunk, Poor speech, Status epilepticus, Variable expressivity
EN-V1-3	FRRS1L	1.758379401	0	Integral membrane protein		OMIM|604574;HPO|23732|Absent speech, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Developmental regression, Epileptic encephalopathy, Gait disturbance, Generalized hypotonia, Global developmental delay, Intellectual disability, Myoclonus, Rigidity, Spasticity
EN-V1-3	PRPS2	1.746032791	0	Enzyme: Ligase	BrainSpLMD|5634	OMIM|311860
EN-V1-3	GAP43	1.73199596	0	Growth factor	BrainSpLMD|2596;Eurexp|euxassay_002973|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, midgut, nasal capsule, olfactory, rectum, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|14208	SFARI||Autism, 5 - Hypothesized but untested;OMIM|162060
EN-V1-3	PPFIBP1	1.727984655	0	Anchor protein	BrainSpLMD|8496;BrainSpMouseDev|43376	OMIM|603141;COSMIC||Spitzoid tumour, inflammatory myofibroblastic tumour
EN-V1-3	BMPR1B	1.706751015	0	Receptor serine/threonine kinase	BrainSpLMD|658;BrainSpMouseDev|11953	OMIM|603248;HPO|658|2-3 toe syndactyly, Abnormality of epiphysis morphology, Abnormality of the fingernails, Abnormality of the hip bone, Abnormality of the radius, Abnormality of the thumb, Abnormality of the ulna, Abnormality of tibia morphology, Aplasia of the middle phalanges of the toes, Aplasia of the proximal phalanges of the hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the 1st metacarpal, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Aplasia/Hypoplasia of the thumb, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bowing of the long bones, Brachydactyly, Bracket epiphysis of the middle phalanx of the 2nd finger, Bracket epiphysis of the middle phalanx of the 5th finger, Broad foot, Broad hallux, Carpal synostosis, Clinodactyly of the 5th finger, Complete duplication of distal phalanx of the thumb, Cone-shaped epiphysis, Delayed speech and language development, Disproportionate short-limb short stature, Fibular aplasia, Fibular hypoplasia, Hallux valgus, Hypergonadotropic hypogonadism, Hypoplasia of the ulna, Hypoplasia of the uterus, Joint stiffness, Limitation of joint mobility, Medially deviated second toe, Micromelia, Narrow nasal bridge, Poor motor coordination, Postaxial hand polydactyly, Primary amenorrhea, Pseudoepiphyses of the 2nd finger, Radial deviation of finger, Radial deviation of the 2nd finger, Sarcoma, Short 2nd finger, Short distal phalanx of the 2nd finger, Short distal phalanx of the thumb, Short femoral neck, Short finger, Short foot, Short hallux, Short metatarsal, Short middle phalanx of finger, Short middle phalanx of the 5th finger, Short phalanx of finger, Short proximal phalanx of finger, Short proximal phalanx of thumb, Short stature, Short thumb, Short tibia, Short toe, Skeletal dysplasia, Stippling of the epiphysis of the distal phalanx of the thumb, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Triangular shaped middle phalanx of the 2nd finger, Triangular shaped middle phalanx of the 5th finger, Type A2 brachydactyly, Type C brachydactyly, Ulnar deviation of finger, Ulnar deviation of the 2nd finger, Widened proximal tibial metaphyses
EN-V1-3	LRRN3	1.701446129	0	Integral membrane protein	BrainSpLMD|54674;Eurexp|euxassay_015911|cervical, cervico-thoracic, ear, facial VII, glossopharyngeal IX, lip, mantle layer, marginal layer, medulla, neural retina, olfactory, pituitary, stomach, thoracic, trachea, trigeminal V, ventral grey horn, vestibular component, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16751	
EN-V1-3	LDB2	1.690703699	0	Transcription regulatory protein	BrainSpLMD|9079;BrainSpMouseDev|16597	OMIM|603450
EN-V1-3	TUBB4A	1.68310719	0	Cytoskeletal protein	BrainSpLMD|10382;Eurexp|euxassay_018005|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602662
EN-V1-3	KIAA1244	1.673820063	0			
EN-V1-3	RASSF2	1.66508612	0	Cell cycle control protein	BrainSpLMD|9770;Eurexp|euxassay_010507|meninges, valve, ventricular layer	OMIM|609492
EN-V1-3	AKAP7	1.643974349	0	Anchor protein	BrainSpLMD|9465	OMIM|604693
EN-V1-3	SATB2	1.620515083	0	Transcription regulatory protein	BrainSpLMD|23314;Eurexp|euxassay_018949|axial skeleton, clavicle, femur, fibula, humerus, intermediate grey horn, laryngeal, larynx, mandible, mantle layer, maxilla, mesenchyme, orbito-sphenoid, palatal shelf, pelvic girdle, rib, scapula, shoulder, tibia;BrainSpMouseDev|84457	SFARI||Autism, 4 - Minimal evidence;OMIM|608148;HPO|23314|Aggressive behavior, Arachnodactyly, Autosomal dominant inheritance, Broad-based gait, Bulbous nose, Camptodactyly, Cleft palate, Conical tooth, Delayed speech and language development, Dental crowding, Downslanted palpebral fissures, Feeding difficulties, Fine hair, Frontal bossing, Global developmental delay, Happy demeanor, High forehead, High palate, Hyperactivity, Inguinal hernia, Intellectual disability, Intellectual disability, severe, Long face, Long nose, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Midface retrusion, Muscular hypotonia, Nail dysplasia, Narrow mouth, Narrow nose, Oligodontia, Prominent nasal bridge, Seizures, Short stature, Smooth philtrum, Sparse hair, Talipes equinovarus, Thin skin, Thin vermilion border
EN-V1-3	SLC8A1	1.618980665	0	Membrane transport protein	BrainSpLMD|6546;Eurexp|euxassay_018859|atrium, brain, olfactory, respiratory, spinal cord, ventricle	OMIM|182305
EN-V1-3	RAB3A	1.596814099	0	GTPase	BrainSpLMD|5864;BrainSpMouseDev|19102	OMIM|179490
EN-V1-3	DLG2	1.526219642	0	Cell junction protein	BrainSpLMD|1740;Eurexp|euxassay_011686|cervical, cervico-thoracic, dorsal root ganglion, mandible, mantle layer, marginal layer, maxilla, thoracic, trigeminal V, ventral grey horn	OMIM|603583
EN-V1-3	HIVEP2	1.51045461	0	DNA binding protein	BrainSpLMD|3097;Eurexp|euxassay_008979|marginal layer, mesenchyme;BrainSpMouseDev|15048	OMIM|143054;HPO|3097|Abnormal facial shape, Anxiety, Autistic behavior, Autosomal dominant inheritance, Constipation, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hyperactivity, Impulsivity, Infantile onset, Intellectual disability, Narrow mouth, Prominent nasal bridge, Tapered finger, Wide nasal bridge
EN-V1-3	RNF152	1.506598749	0	Ubiquitin proteasome system protein	BrainSpLMD|220441	OMIM|616512
EN-V1-3	ARHGAP20	1.494581175	0	GTPase activating protein	BrainSpLMD|57569;Eurexp|euxassay_010398|mesenchyme	OMIM|609568
EN-V1-3	RAP1GDS1	1.482926826	0	Guanine nucleotide exchange factor	BrainSpLMD|5910;Eurexp|euxassay_003801|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, penis, trigeminal V, ventral grey horn	OMIM|179502;COSMIC||T-ALL
EN-V1-3	GPR85	1.463609969	0	G protein coupled receptor	BrainSpLMD|54329;Eurexp|euxassay_005306|axial skeleton, brain, glossopharyngeal IX, neural retina, skeletal muscle, spinal cord, stroma, trachea, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|605188
EN-V1-3	GAS7	1.452830802	0	Unclassified	BrainSpLMD|8522;Eurexp|euxassay_001801|mantle layer, marginal layer	OMIM|603127;COSMIC||AML*
EN-V1-3	TMEM150C	1.446091375	0	Unclassified	Eurexp|euxassay_005300|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, rib, thalamus, trigeminal V, ventral grey horn	OMIM|617292
EN-V1-3	NKAIN2	1.443423359	0	Integral membrane protein	BrainSpLMD|154215	OMIM|609758
EN-V1-3	LMO4	1.430607334	0	Transcription regulatory protein	BrainSpLMD|8543;Eurexp|euxassay_004815|mantle layer, marginal layer, naris, submandibular gland primordium, vibrissa;BrainSpMouseDev|16681	OMIM|603129
EN-V1-3	STMN2	1.427776062	0	Cytoskeletal associated protein	BrainSpLMD|11075;Eurexp|euxassay_009268|cervical, cervico-thoracic, dorsal root ganglion, facial VII, footplate, forebrain, glossopharyngeal IX, handplate, hindbrain, hindgut, incisor, lip, midbrain, midgut, neural retina, oesophagus, olfactory, spinal cord, stomach, thoracic, thymus primordium, tongue, trigeminal V, vestibulocochlear VIII, vibrissa, visceral, vomeronasal organ	OMIM|600621
EN-V1-3	GNG3	1.425363267	0	G protein	BrainSpLMD|2785;Eurexp|euxassay_010359|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608941
EN-V1-3	FABP7	1.422063204	0	Transport/cargo protein	BrainSpLMD|2173;Eurexp|euxassay_000474|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, rest of cerebellum, trigeminal V, ventral grey horn, ventricular layer	SFARI||Autism, 6 - Evidence does not support role;OMIM|602965
EN-V1-3	SLC44A5	1.412916307	0	Transport/cargo protein	BrainSpLMD|204962;Eurexp|euxassay_019725|floor plate, floorplate, glossopharyngeal IX, lip, mantle layer, marginal layer, trachea, ventral grey horn, ventricular layer	
EN-V1-3	SCG5	1.392844202	0	Chaperone	BrainSpLMD|6447;Eurexp|euxassay_007348|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, oesophagus, olfactory, pituitary, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20157	OMIM|173120
EN-V1-3	DAB1	1.381414356	0	Adapter molecule	BrainSpLMD|1600;Eurexp|euxassay_017879|basal columns, footplate, lip, mantle layer, maxilla, mesenchyme, naris, ventricular layer;BrainSpMouseDev|12911	SFARI||Autism, 5 - Hypothesized but untested;OMIM|603448;HPO|1600|Ataxia, Autosomal dominant inheritance, Dysarthria, Frequent falls, Slow progression, Unsteady gait
EN-V1-3	PCLO	1.377720037	0	Cytoskeletal protein	BrainSpLMD|27445;Eurexp|euxassay_009714|brain, cervical, cervico-thoracic, olfactory, spinal cord, thoracic;BrainSpMouseDev|26621	OMIM|604918;HPO|27445|Autosomal recessive inheritance, Brachycephaly, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy, Congenital onset, Decreased body weight, Depressed nasal bridge, Downturned corners of mouth, Full cheeks, Global developmental delay, Hearing impairment, High palate, High, narrow palate, Hyperreflexia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Long palpebral fissure, Long philtrum, Low-set ears, Macrotia, Muscular hypotonia of the trunk, Neonatal hypotonia, Optic atrophy, Poor head control, Progressive, Progressive microcephaly, Proptosis, Seizures, Short stature, Spasticity
EN-V1-3	LUZP2	1.368152591	0	Unclassified	BrainSpLMD|338645;Eurexp|euxassay_015946|marginal layer, ventricular layer	OMIM|608178
EN-V1-3	STMN1	1.362134109	0	Structural protein	BrainSpLMD|3925;Eurexp|euxassay_008627|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|151442
EN-V1-3	WFDC2	1.358586541	0	Secreted polypeptide	BrainSpLMD|10406	OMIM|617548
EN-V1-3	NAV2	1.354585013	0	DNA binding protein	BrainSpLMD|89797;Eurexp|euxassay_008549|incisor, mantle layer, marginal layer, molar, neural retina, skeletal muscle, submandibular gland primordium, thymus primordium, ventral grey horn, vertebral axis muscle system, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|607026
EN-V1-3	GABRB2	1.349795428	0	Integral membrane protein	BrainSpLMD|2561;Eurexp|euxassay_014215|mantle layer;BrainSpMouseDev|14177	OMIM|600232
EN-V1-3	SLA	1.34289591	0	Adapter molecule	BrainSpLMD|6503	OMIM|601099
EN-V1-3	NELL2	1.322227943	0	Calcium binding protein	BrainSpLMD|4753;Eurexp|euxassay_010538|axial skeleton, brachial plexus, dorsal root ganglion, footplate, handplate, head mesenchyme, incisor, mantle layer, marginal layer, mesenchyme, mesentery, molar, neural retina, olfactory, paraxial mesenchyme, perioptic mesenchyme, peritoneal cavity, rib, ventricular layer	OMIM|602320
EN-V1-3	SEZ6L	1.311399672	0	Integral membrane protein	BrainSpLMD|23544;Eurexp|euxassay_009459|brain, neural retina, spinal cord	OMIM|607021
EN-V1-3	SLC41A2	1.294670349	0	Membrane transport protein	BrainSpLMD|84102	OMIM|610802
EN-V1-3	LIMCH1	1.270678749	0	Unclassified	BrainSpLMD|22998	OMIM|617750
EN-V1-3	SYT13	1.262340772	0	Membrane transport protein	BrainSpLMD|57586;Eurexp|euxassay_017968|chondrocranium, dorsal root ganglion, facial VII, genital tubercle, glossopharyngeal IX, incisor, lip, mantle layer, marginal layer, neural retina, penis, stroma, tongue, trigeminal V, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	OMIM|607716
EN-V1-3	SYNE1	1.255522798	0	Unclassified	BrainSpLMD|23345	SFARI||Autism, 4 - Minimal evidence;OMIM|608441;HPO|23345|Adult onset, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Childhood onset, Dysarthria, Dysmetria, Elevated serum creatine phosphokinase, Gait ataxia, Left ventricular septal hypertrophy, Limb ataxia, Muscular dystrophy, Neck muscle weakness, Nystagmus, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Slow progression
EN-V1-3	SYT4	1.240322992	0	Calcium binding protein	BrainSpLMD|6860	OMIM|600103
EN-V1-3	CELF2	1.232975397	0	RNA binding protein	BrainSpLMD|10659;Eurexp|euxassay_015501|brain, spinal cord	OMIM|602538
EN-V1-3	TUBA1A	1.225605685	0	Cytoskeletal protein	BrainSpLMD|7846	OMIM|602529;HPO|7846|Agenesis of corpus callosum, Ataxia, Autosomal dominant inheritance, Cerebellar vermis hypoplasia, Generalized hypotonia, Heterotopia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, severe, Lissencephaly, Microcephaly, Motor delay, Pachygyria, Polymicrogyria, Seizures, Spastic tetraplegia, Ventriculomegaly
EN-V1-3	MAPT	1.221644025	0	Structural protein	BrainSpLMD|4137;Eurexp|euxassay_002990|calyces, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, hindgut, mantle layer, marginal layer, midbrain, midgut, neural retina, olfactory, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|17529	OMIM|157140;HPO|4137|Abnormal brain FDG positron emission tomography, Abnormal pyramidal signs, Abnormality of the cerebral white matter, Adult onset, Aggressive behavior, Akinesia, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apathy, Apraxia, Autosomal dominant inheritance, Axial dystonia, Blurred vision, Bradykinesia, Collectionism, Dementia, Depressivity, Diplopia, Disinhibition, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphagia, Dysphasia, EEG with continuous slow activity, Echolalia, Emotional blunting, Eyelid apraxia, Falls, Frontal lobe dementia, Frontolimbic dementia, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait imbalance, Gliosis, Grammar-specific speech disorder, Granulovacuolar degeneration, Heterogeneous, Hyperorality, Inappropriate behavior, Inappropriate laughter, Inappropriate sexual behavior, Irritability, Kyphoscoliosis, Lack of insight, Language impairment, Loss of speech, Memory impairment, Morphological abnormality of the pyramidal tract, Mutism, Neurofibrillary tangles, Neuronal loss in central nervous system, Ophthalmoparesis, Parkinsonism, Perseveration, Personality changes, Photophobia, Polyphagia, Poor speech, Primitive reflex, Restlessness, Restrictive behavior, Retrocollis, Rigidity, Spoken Word Recognition Deficit, Sporadic, Stereotypy, Supranuclear gaze palsy, Temporal cortical atrophy, Thickened nuchal skin fold, Tremor
EN-V1-3	MPP6	1.212950793	0	Unclassified	BrainSpLMD|51678	SFARI||Autism, No category;OMIM|606959
EN-V1-3	XKR4	1.205667582	0	Integral membrane protein		
EN-V1-3	FAT3	1.200201793	0	Integral membrane protein	Eurexp|euxassay_015982|axial muscle, clavicle, cortex, diaphragm, dorsal root ganglion, exoccipital bone, facial VII, femur, lip, mandible, mantle layer, maxilla, mesenchyme, metatarsus, orbito-sphenoid, pelvic girdle, phalanx, rib, saccule, skeletal muscle, sternum, thymus primordium, trigeminal V, urethra, vault of skull, ventricular layer, vibrissa;BrainSpMouseDev|92930	OMIM|612483;COSMIC||SCC, colon adenocarcinoma, gastric adenocarcinoma
EN-V1-3	UCHL1	1.177859122	0	Ubiquitin proteasome system protein	BrainSpLMD|7345;Eurexp|euxassay_007064|cervical, cervico-thoracic, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, hindgut, incisor, medulla, mesenchyme, midgut, neural retina, olfactory, skeletal muscle, stomach, testis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|191342;HPO|7345|Ankle clonus, Autosomal recessive inheritance, Babinski sign, Cerebellar atrophy, Cerebral atrophy, Dysmetria, Fasciculations, Flexion contracture, Head titubation, Myokymia, Myopia, Neurodegeneration, Nystagmus, Optic atrophy, Pes cavus, Pes planus, Progressive, Progressive visual loss, Spastic paraplegia, Tetraparesis
EN-V1-3	EPS8	1.158778242	0	Adapter molecule	BrainSpLMD|2059;Eurexp|euxassay_004434|adrenal gland, lung, mantle layer, marginal layer, mesenchyme, metanephros, midgut, nasal septum, pancreas, rectum, testis, thymus primordium, turbinate bones	SFARI||Autism, No category;OMIM|600206;HPO|2059|Autosomal recessive inheritance, Congenital onset, Profound hearing impairment
EN-V1-3	REEP1	1.145203334	0	Unclassified	BrainSpLMD|65055;Eurexp|euxassay_005277|brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, skeletal muscle, spinal cord, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|609139;HPO|65055|Ankle clonus, Areflexia, Autosomal dominant inheritance, Babinski sign, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Hyporeflexia, Lower limb muscle weakness, Pes cavus, Skeletal muscle atrophy, Spastic gait, Spastic paraplegia, Variable expressivity
EN-V1-3	DCLK1	1.126395082	0	Serine/threonine kinase	BrainSpLMD|9201;Eurexp|euxassay_018536|floor plate, floorplate, mantle layer, ventral grey horn, ventricular layer	OMIM|604742
EN-V1-3	CALM1	1.123706462	0	Calcium binding protein	BrainSpLMD|801	OMIM|114180;HPO|801|Autosomal dominant inheritance, Cardiac arrest, Prolonged QT interval, Sudden death, Syncope, Ventricular tachycardia, Vertigo
EN-V1-3	CSRP2	1.116410044	0	Adapter molecule	BrainSpLMD|1466;Eurexp|euxassay_016538|aorta, bladder, dorsal grey horn, hindgut, intermediate grey horn, mantle layer, midgut, neural retina, orbito-sphenoid, pancreas, skeletal muscle, stomach, temporal bone, turbinate, vault of skull	OMIM|601871
EN-V1-3	CSMD3	1.115240221	0	Integral membrane protein	BrainSpLMD|114788;Eurexp|euxassay_013996|mantle layer, tegmentum, ventricle	OMIM|608399;COSMIC||ovarian cancer, oral SCC, lung cancer
EN-V1-3	KIAA1377	1.102868551	0			
EN-V1-3	LINC01102	1.101400472	0			
EN-V1-3	ANK2	1.099771391	0	Cytoskeletal associated protein	BrainSpLMD|287	SFARI||Autism, 1 - High confidence;OMIM|106410;HPO|287|Atrial fibrillation, Autosomal dominant inheritance, Heterogeneous, Prolonged QT interval, Sinus bradycardia, Sudden cardiac death, Syncope
EN-V1-3	ATXN1	1.08402338	0	RNA binding protein	BrainSpLMD|6310;BrainSpMouseDev|20001	OMIM|601556;HPO|6310|Abnormality of extrapyramidal motor function, Adult onset, Areflexia, Autosomal dominant inheritance, Babinski sign, Bulbar palsy, Chorea, Cognitive impairment, Dilated fourth ventricle, Distal amyotrophy, Dorsal column degeneration, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Dysphagia, Gaze-evoked nystagmus, Generalized hypotonia, Genetic anticipation with paternal anticipation bias, Hyperreflexia, Impaired horizontal smooth pursuit, Impaired vibratory sensation, Limb ataxia, Olivopontocerebellar atrophy, Optic atrophy, Optic disc pallor, Progressive cerebellar ataxia, Scanning speech, Slow saccadic eye movements, Spasticity, Spinocerebellar atrophy, Spinocerebellar tract degeneration, Supranuclear ophthalmoplegia, Truncal ataxia, Urinary bladder sphincter dysfunction
EN-V1-3	GUCY1A2	1.079203455	0	Guanylate cyclase	BrainSpLMD|2977	SFARI||Autism, 4 - Minimal evidence;OMIM|601244
EN-V1-3	RTN1	1.057074718	0	Integral membrane protein	BrainSpLMD|6252;Eurexp|euxassay_003752|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, penis, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|600865
EN-V1-3	PKIA	1.055297484	0	Enzyme regulator	BrainSpLMD|5569;Eurexp|euxassay_018045|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mesenchyme, neural retina, olfactory, spinal cord, stroma, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|606059
EN-V1-3	FGF13	1.043919306	0	Growth factor	BrainSpLMD|2258	OMIM|300070
EN-V1-3	SPTBN1	1.019437123	0	Cytoskeletal protein	BrainSpLMD|6711	OMIM|182790
EN-V1-3	ANK3	0.994912616	0	Adapter molecule	BrainSpLMD|288;BrainSpMouseDev|11522	SFARI||Autism, No category;OMIM|600465;HPO|288|Aggressive behavior, Autosomal recessive inheritance, Bruxism, Generalized hypotonia, Hyperactivity, Intellectual disability, Intellectual disability, moderate, Spasticity
EN-V1-3	MPPED1	0.990171297	0	Enzyme: Esterase	Eurexp|euxassay_009802|incisor, mantle layer, marginal layer, molar;BrainSpMouseDev|85966	OMIM|602112
EN-V1-3	DACT1	0.989032952	0	Unclassified	BrainSpLMD|51339;Eurexp|euxassay_009577|aorta, associated mesenchyme, capsule, cartilaginous ring, cortex, mantle layer, medullary stroma, mesenchyme, mesentery, midgut, oesophagus;BrainSpMouseDev|37599	OMIM|607861;HPO|51339|Anal atresia, Anencephaly, Anteriorly placed anus, Autosomal dominant inheritance, Bifid uterus, Cervical spina bifida, Clinodactyly of the 5th finger, Constipation, Crossed fused renal ectopia, Cryptorchidism, Cupped ear, External ear malformation, Hearing impairment, Hypospadias, Microtia, Myelomeningocele, Overfolded helix, Pes planus, Preauricular skin tag, Preaxial hand polydactyly, Rectoperineal fistula, Rectovaginal fistula, Renal insufficiency, Scoliosis, Spina bifida occulta, Subcutaneous nodule, Toe clinodactyly, Triphalangeal thumb
EN-V1-3	AASDHPPT	0.978263336	0	Enzyme: Dehydrogenase	BrainSpLMD|60496	OMIM|607756
EN-V1-3	SSBP2	0.951565732	0	Transcription regulatory protein	BrainSpLMD|23635;Eurexp|euxassay_004775|adenohypophysis, brain, diencephalon, forelimb, glossopharyngeal IX, hindbrain, hindlimb, mantle layer, marginal layer, mesenchyme, midbrain, olfactory, spinal cord, tail, trigeminal V, vestibulocochlear VIII	OMIM|607389
EN-V1-3	ZBTB18	0.933609728	0	Transcription regulatory protein	BrainSpLMD|10472	OMIM|608433;HPO|10472|Abnormality of the pinna, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Depressed nasal bridge, Epicanthus, Generalized hypotonia, Global developmental delay, Hypertelorism, Intellectual disability, Low-set ears, Microcephaly, Micrognathia, Prominent forehead, Round face, Seizures, Short stature, Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Variable expressivity
EN-V1-3	SEPW1	0.923347027	0			
EN-V1-3	SCN3B	0.893992941	0	Voltage gated channel	BrainSpLMD|55800;Eurexp|euxassay_012281|cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, midgut, neural retina, olfactory, skeletal muscle, stomach, thoracic, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|608214;HPO|55800|Atrial flutter, Autosomal dominant inheritance, ST segment elevation
EN-V1-3	IDS	0.873405348	0	Enzyme: Sulphohydrolase	BrainSpLMD|3423	OMIM|300823;HPO|3423|Abnormality of retinal pigmentation, Abnormality of the heart valves, Asthma, Cervical cord compression, Coarse facial features, Congestive heart failure, Delayed eruption of teeth, Dermatan sulfate excretion in urine, Diarrhea, Dysostosis multiplex, Flexion contracture, Hearing impairment, Heparan sulfate excretion in urine, Hepatomegaly, Hoarse voice, Hydrocephalus, Hypertrichosis, Inguinal hernia, Intellectual disability, profound, Intestinal pseudo-obstruction, Kyphosis, Macrocephaly, Macroglossia, Mild short stature, Neurodegeneration, Obstructive sleep apnea, Papilledema, Pes cavus, Ptosis, Recurrent otitis media, Scaphocephaly, Seizures, Severe short stature, Short neck, Short stature, Splenomegaly, Split hand, Thick lower lip vermilion, Tracheobronchomalacia, Umbilical hernia, Widely spaced teeth, X-linked recessive inheritance
EN-V1-3	RP11.1263C18.1	0.864929497	0			
EN-V1-3	TUBB	0.839181442	0	Cytoskeletal protein	BrainSpLMD|203068	OMIM|191130;HPO|203068|Abnormality of cardiovascular system morphology, Abnormality of the skin, Ataxia, Autosomal dominant inheritance, Blepharophimosis, Brachycephaly, Cerebellar hypoplasia, Cleft palate, Congenital onset, Delayed speech and language development, Edema, Epicanthus, Flat face, Global developmental delay, High palate, Hypertelorism, Hypoplasia of the brainstem, Hypoplastic nipples, Increased number of skin folds, Intellectual disability, Irregular hyperpigmentation, Localized neuroblastoma, Low-set ears, Microcephaly, Motor delay, Narrow mouth, Periorbital fullness, Posteriorly rotated ears, Short neck, Short palpebral fissure, Thickened skin, Wide intermamillary distance
EN-V1-3	KIF5A	0.831638905	0	Motor protein	BrainSpLMD|3798;Eurexp|euxassay_018169|Meckel's cartilage, axial skeleton, basioccipital bone, brain, cervical, cervico-thoracic, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, olfactory, orbito-sphenoid, pelvic girdle, radius, rib, scapula, spinal cord, temporal bone, thoracic, tibia, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|602821;HPO|3798|Ankle clonus, Athetosis, Autosomal dominant inheritance, Babinski sign, Chorea, Congenital onset, Cortical visual impairment, Delayed myelination, Developmental stagnation, Distal sensory impairment, Dysphagia, Feeding difficulties, Generalized hypotonia, Hyperreflexia, Impaired vibration sensation in the lower limbs, Knee clonus, Lower limb muscle weakness, Microcephaly, Nystagmus, Pes cavus, Phenotypic variability, Progressive, Progressive leukoencephalopathy, Ptosis, Scoliosis, Spastic gait, Spastic paraplegia, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
EN-V1-3	MAP1B	0.816701408	0	Cytoskeletal associated protein	BrainSpLMD|4131;Eurexp|euxassay_009367|brain, facial VII, glossopharyngeal IX, olfactory, peripheral nervous system, retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|157129
EN-V1-3	FLRT2	0.813257653	0	Adhesion molecule	BrainSpLMD|23768	OMIM|604807
EN-V1-3	RPL15	0.802756416	0	Ribosomal subunit	BrainSpLMD|6138	OMIM|604174;HPO|6138|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Elevated red cell adenosine deaminase activity, Fatigue, Macrocytic anemia, Migraine, Normochromic anemia, Pallor, Reticulocytopenia, Triphalangeal thumb, Ventricular septal defect
EN-V1-3	PRKACB	0.801137672	0	Serine/threonine kinase	BrainSpLMD|5567	OMIM|176892
EN-V1-3	DPYSL2	0.788242002	0	Cytoskeletal associated protein	BrainSpLMD|1808	OMIM|602463
EN-V1-3	RFPL1S	0.766528594	0			OMIM|605972
EN-V1-3	PLXNA4	0.748939876	0	Unclassified	BrainSpLMD|91584;Eurexp|euxassay_009720|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X;BrainSpMouseDev|89119	SFARI||Autism, 3 - Suggestive evidence;OMIM|604280
EN-V1-3	D4S234E	0.707421407	0			
EN-V1-3	STXBP5	0.689338392	0	Transport/cargo protein	BrainSpLMD|134957	SFARI||Autism, 3 - Suggestive evidence;OMIM|604586
EN-V1-3	MCTP1	0.66988251	0	Calcium binding protein	BrainSpLMD|79772	OMIM|616296
EN-V1-3	PTPN2P1	0.650210237	0			
EN-V1-3	PPIA	0.644878776	0	Enzyme: Isomerase	BrainSpLMD|5478	OMIM|123840
EN-V1-3	RPL5	0.626971341	0	Ribosomal subunit	BrainSpLMD|6125	OMIM|603634;COSMIC||T-ALL, Diamond-Blackfan anaemia;HPO|6125|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Bifid uvula, Cleft palate, Cleft upper lip, Delayed puberty, Failure to thrive, Fatigue, Growth delay, Hypertelorism, Increased mean corpuscular volume, Macrocytic anemia, Micrognathia, Migraine, Mitral regurgitation, Mitral valve prolapse, Pallor, Patent ductus arteriosus, Persistence of hemoglobin F, Short thumb, Tetralogy of Fallot, Tracheomalacia, Ventricular hypertrophy, Ventricular septal defect
EN-V1-3	NEUROD6	0.625539716	0	Transcription factor	BrainSpLMD|63974;Eurexp|euxassay_017889|inner ear, mantle layer, olfactory, olfactory lobe;BrainSpMouseDev|11708	OMIM|611513
EN-V1-3	MYT1L	0.603553266	0	Transcription factor	BrainSpLMD|23040;BrainSpMouseDev|17700	SFARI||Autism, 1 - High confidence;OMIM|613084;HPO|23040|Aggressive behavior, Autosomal dominant inheritance, Delayed speech and language development, Global developmental delay, Intellectual disability, Obesity
EN-V1-3	NDRG1	0.593186025	0	Unclassified	BrainSpLMD|10397;Eurexp|euxassay_004423|anterior, dorsal root ganglion, external, mandible, marginal layer, meninges, mesenchyme, midgut, naris, nasal septum, olfactory, palatal shelf, pyloric region, rectum, upper jaw	OMIM|605262;COSMIC||prostate;HPO|10397|Abnormal auditory evoked potentials, Abnormality of the hand, Abnormality of visual evoked potentials, Areflexia, Autosomal recessive inheritance, Axonal loss, Decreased nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Gait disturbance, Hearing impairment, Hyporeflexia, Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material, Juvenile onset, Onion bulb formation, Segmental peripheral demyelination/remyelination, Talipes cavus equinovarus
EN-V1-3	NHSL1	0.548859327	0	Unclassified		
EN-V1-3	CXADR	0.539318538	0	Cell surface receptor	BrainSpLMD|1525;Eurexp|euxassay_012371|bladder, cochlea, cortex, endolymphatic duct, epidermis, epithelium, facial VII, glossopharyngeal IX, incisor, larynx, left lung, mantle layer, marginal layer, meninges, mesothelium, metanephros, midgut, molar, neural retina, olfactory, oral epithelium, pancreas, pharyngo-tympanic tube, primitive seminiferous tubules, rectum, right lung, stomach, trachea, trigeminal V, urogenital mesentery, utricle, vagus X, vestibulocochlear VIII, vibrissa	OMIM|602621
EN-V1-3	BHLHE22	0.51682985	0	Unclassified	BrainSpLMD|27319;BrainSpMouseDev|37621	OMIM|613483
EN-V1-3	CHL1	0.50419225	0	Adhesion molecule	BrainSpLMD|10752;BrainSpMouseDev|12446	OMIM|607416;HPO|10752|Atrioventricular canal defect, Brachycephaly, Cleft palate, Cognitive impairment, Cryptorchidism, Downturned corners of mouth, Epicanthus, Hearing impairment, High palate, Hypertelorism, Intrauterine growth retardation, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscular hypotonia, Postaxial hand polydactyly, Ptosis, Short stature, Telecanthus
EN-V1-3	MLLT11	0.435636162	0	Unclassified	BrainSpLMD|10962;Eurexp|euxassay_010405|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|604684;COSMIC||ALL;HPO|10962|Autosomal dominant inheritance, Juvenile myelomonocytic leukemia, Somatic mutation
EN-V1-3	PPP2R2C	0.368157877	0	Serine/threonine phosphatase	BrainSpLMD|5522	OMIM|605997
EN-V1-3	LPPR4	0.354033585	0			
EN-V1-3	RP11.120I21.3	0.268659542	0			
EN-V1-3	RASL10A	0.98857027	1.11E-16	GTPase	BrainSpLMD|10633	OMIM|602220
EN-V1-3	TUBBP2	0.669635191	1.11E-16			
EN-V1-3	RPL26	0.589401135	1.11E-16	Ribosomal subunit		OMIM|603704;HPO|6154|Abnormality of cells of the erythroid lineage, Abnormality of the eyelid, Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Absent thumb, Anemia, Arrhythmia, Atresia of the external auditory canal, Autosomal dominant inheritance, Bicuspid aortic valve, Cleft palate, Delayed puberty, Fatigue, Forearm reduction defects, Hypoplasia of the radius, Hypoplasia of the ulna, Macrocytic anemia, Migraine, Neutropenia, Pallor, Renal agenesis, Short stature, Stenosis of the external auditory canal
EN-V1-3	ATP2B1	0.449966111	1.11E-16	ATPase	BrainSpLMD|490	OMIM|108731
EN-V1-3	C11orf87	1.899946619	2.22E-16	Integral membrane protein	BrainSpLMD|399947;Eurexp|euxassay_007649|fundus region, mantle layer, ventral grey horn	
EN-V1-3	PCDH7	1.516090285	2.22E-16	Adhesion molecule	BrainSpLMD|5099;Eurexp|euxassay_009713|bladder, dorsal root ganglion, mantle layer, mesenchyme, olfactory, stomach, trigeminal V, vestibulocochlear VIII	OMIM|602988
EN-V1-3	TUBB2A	0.991172342	2.22E-16		BrainSpLMD|7280;Eurexp|euxassay_006726|embryo	OMIM|615101;HPO|7280|Autosomal dominant inheritance, Cortical dysplasia, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Seizures, Variable expressivity
EN-V1-3	KIFAP3	0.5314044	2.22E-16	Transport/cargo protein	BrainSpLMD|22920;Eurexp|euxassay_012381|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, mesenchyme, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601836
EN-V1-3	EEF1B2	1.145661244	3.33E-16	Translation regulatory protein	BrainSpLMD|1933	OMIM|600655
EN-V1-3	RPL41P1	0.734922039	3.33E-16			
EN-V1-3	RPS3	0.355339878	5.55E-16	Ribosomal subunit		OMIM|600454
EN-V1-3	CNOT7	0.494596906	6.66E-16	Transcription regulatory protein	BrainSpLMD|29883;Eurexp|euxassay_011947|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, brain, dorsal root ganglion, femur, humerus, nasal septum, orbito-sphenoid, petrous part, rib, scapula, spinal cord, turbinate bones	OMIM|604913
EN-V1-3	KLHL4	2.224258512	7.77E-16	Cytoskeletal associated protein	BrainSpLMD|56062;Eurexp|euxassay_011076|medullary stroma, ventricle	OMIM|300348
EN-V1-3	MPC1	0.345084789	7.77E-16	Unclassified	BrainSpLMD|51660;Eurexp|euxassay_014791|adrenal gland, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V	OMIM|614738;HPO|51660|Autosomal recessive inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hypoglycemia, Increased serum lactate, Increased serum pyruvate, Lactic acidosis, Organic aciduria, Variable expressivity
EN-V1-3	FBXW7	0.652390542	1.11E-15	Ubiquitin proteasome system protein	BrainSpLMD|55294;BrainSpMouseDev|30242	OMIM|606278;COSMIC||colorectal, endometrial, T-ALL
EN-V1-3	NCAM1	0.405828805	1.22E-15	Adhesion molecule	BrainSpLMD|4684;Eurexp|euxassay_014138|bladder, brain, cervical, cervico-thoracic, cortex, dermal component, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, pericardial cavity, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, ureter, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17734	OMIM|116930
EN-V1-3	DYNLL1	0.758083203	1.33E-15	Motor protein	BrainSpLMD|8655	OMIM|601562
EN-V1-3	GNB2L1	0.574540111	1.44E-15			
EN-V1-3	PCSK2	2.292684702	1.78E-15	Unclassified	BrainSpLMD|5126;BrainSpMouseDev|18315	OMIM|162151
EN-V1-3	CDKL5	0.894420786	1.78E-15	Serine/threonine kinase	BrainSpLMD|6792	SFARI||Autism, No category;OMIM|300203;HPO|6792|Abnormality of movement, Abnormality of skin morphology, Abnormality of the antitragus, Abnormality of the fingernails, Abnormality of the metacarpal bones, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Broad forehead, Camptodactyly of finger, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Constipation, Deeply set eye, Developmental regression, EEG abnormality, Epileptic encephalopathy, Fine hair, Gastroesophageal reflux, Generalized hypotonia, Generalized myoclonic seizures, Global developmental delay, Hearing impairment, Hyperventilation, Hypsarrhythmia, Inability to walk, Infantile onset, Infantile spasms, Intellectual disability, Intellectual disability, profound, Long philtrum, Microcephaly, Multifocal seizures, Myoclonus, Nephrolithiasis, Poor eye contact, Progressive microcephaly, Prominent forehead, Scoliosis, Seizures, Short foot, Short palm, Small hand, Spasticity, Stereotypy, Tapered finger, Thick lower lip vermilion, Thick vermilion border, Underdeveloped nasal alae, Ventriculomegaly, Wide mouth, Wide nose, X-linked dominant inheritance
EN-V1-3	STX3	2.313111612	1.89E-15	Transport/cargo protein	BrainSpLMD|6809;Eurexp|euxassay_012646|marginal layer, ventricular layer;BrainSpMouseDev|20670	OMIM|600876
EN-V1-3	RTN4	0.3899527	2.00E-15	Integral membrane protein	BrainSpLMD|57142;Eurexp|euxassay_004344|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mesenchyme, neural retina, olfactory, stroma, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|604475
EN-V1-3	ST3GAL1	1.908762086	2.33E-15	Enzyme: Sialyltransferase	BrainSpLMD|6482;Eurexp|euxassay_010981|mandible, mantle layer, sternum, vibrissa	OMIM|607187
EN-V1-3	ANKRD44	0.662463539	2.44E-15	Unclassified	BrainSpLMD|91526	
EN-V1-3	KIDINS220	0.565216162	2.44E-15	Integral membrane protein	Eurexp|euxassay_009418|brain, cervical, cervico-thoracic, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|615759;HPO|57498|Astigmatism, Autosomal dominant inheritance, Cerebral atrophy, Deeply set eye, Delayed myelination, Delayed speech and language development, Dilation of lateral ventricles, Esotropia, Full cheeks, Global developmental delay, Hypermetropia, Hyperreflexia, Infantile onset, Intellectual disability, Limb hypertonia, Muscular hypotonia of the trunk, Nystagmus, Prominent forehead, Reduced visual acuity, Spastic paraplegia
EN-V1-3	SNCA	0.869631841	2.55E-15	Chaperone	BrainSpLMD|6622;BrainSpMouseDev|20379	OMIM|163890;HPO|6622|Autosomal dominant inheritance, Bradykinesia, Delusions, Dementia, Depressivity, Dysarthria, Dysautonomia, Dysphagia, Dystonia, Fluctuations in consciousness, Hallucinations, Hypokinesia, Insidious onset, Lewy bodies, Mental deterioration, Middle age onset, Myoclonus, Orthostatic hypotension, Paranoia, Parkinsonism, Postural instability, Progressive, Rapidly progressive, Resting tremor, Rigidity, Shuffling gait, Sleep disturbance, Urinary urgency, Visual hallucinations, Weight loss
EN-V1-3	PTPRD	0.655518333	2.78E-15	Receptor tyrosine phosphatase	BrainSpLMD|5789	OMIM|601598
EN-V1-3	FAM155A	1.073862203	2.89E-15	Unclassified	Eurexp|euxassay_010352|brain, spinal cord	
EN-V1-3	FRY	1.211765442	3.55E-15	Unclassified	BrainSpLMD|10129;Eurexp|euxassay_016041|axial skeleton, cervical, cervico-thoracic, clavicle, cricoid, dorsal root ganglion, exoccipital bone, facial VII, fibula, glossopharyngeal IX, mantle layer, metatarsus, nasal septum, neural retina, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, rest of mesenchyme, rib, sternum, temporal bone, thoracic, thyroid, tibia, trigeminal V, turbinate, vagus X, vestibulocochlear VIII, vibrissa	OMIM|614818
EN-V1-3	CALM2	0.319070715	4.44E-15	Calcium binding protein	BrainSpLMD|805	OMIM|114182;HPO|805|Autosomal dominant inheritance, Prolonged QT interval, Ventricular tachycardia, Vertigo
EN-V1-3	KHDRBS3	0.891745525	4.55E-15	RNA binding protein	BrainSpLMD|10656	SFARI||Autism, 5 - Hypothesized but untested;OMIM|610421
EN-V1-3	ANKS1B	1.151776645	5.77E-15	Transcription regulatory protein	BrainSpLMD|56899	SFARI||Autism, No category;OMIM|607815
EN-V1-3	CHD5	1.027595992	6.33E-15	DNA binding protein	BrainSpLMD|26038;Eurexp|euxassay_013995|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 5 - Hypothesized but untested;OMIM|610771
EN-V1-3	PHPT1	0.945886522	8.33E-15	Enzyme: Phosphatase	BrainSpLMD|29085	OMIM|610167
EN-V1-3	GNAO1	0.501283154	8.99E-15	G protein	BrainSpLMD|2775;Eurexp|euxassay_018084|atrium, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, pituitary, spinal cord, stomach, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|139311;HPO|2775|Absent speech, Autosomal dominant inheritance, Cerebral atrophy, Delayed myelination, Epileptic encephalopathy, Generalized tonic seizures, Global developmental delay, Hypoplasia of the corpus callosum, Hypsarrhythmia
EN-V1-3	CHRM3	1.734874295	1.01E-14	G protein coupled receptor	BrainSpLMD|1131;BrainSpMouseDev|12456	SFARI||Autism, No category;OMIM|118494;HPO|1131|Abnormal heart morphology, Abnormality of the ribs, Abnormality of the skin, Anal atresia, Aplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the lungs, Autosomal recessive inheritance, Congenital hip dislocation, Congenital posterior urethral valve, Constipation, Cryptorchidism, Decreased fertility, Decreased testicular size, Hydronephrosis, Hydroureter, Multicystic kidney dysplasia, Oligohydramnios, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Prune belly, Recurrent respiratory infections, Recurrent urinary tract infections, Renal insufficiency, Talipes equinovarus, Vesicoureteral reflux, Xerostomia
EN-V1-3	ZBTB34	0.867971534	1.02E-14	Transcription regulatory protein	BrainSpLMD|403341;Eurexp|euxassay_013756|olfactory, submandibular gland primordium	OMIM|611692
EN-V1-3	PDGFA	0.717205838	1.02E-14	Growth factor	Eurexp|euxassay_004036|anterior, axial skeleton, calyces, choroid invagination, choroid plexus, conjunctival sac, diaphragm, epidermis, epithelium, external, footplate, handplate, incisor, left lung, midgut, molar, naso-lacrimal duct, olfactory, oral epithelium, orbito-sphenoid, paraxial mesenchyme, pharyngo-tympanic tube, posterior, primitive seminiferous tubules, rest of mesenchyme, right lung, roof plate, skeletal muscle, stomach, submandibular gland primordium, thymus primordium, trachea, urethra, vertebral axis muscle system, vibrissa, vomeronasal organ;BrainSpMouseDev|18356	OMIM|173430
EN-V1-3	LPHN3	0.454250333	1.05E-14			
EN-V1-3	RP11.397O4.1	1.579028916	1.09E-14			
EN-V1-3	PRKCE	1.792467575	1.12E-14	Serine/threonine kinase	BrainSpLMD|5581;Eurexp|euxassay_009722|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, spinal cord, trigeminal V, vagus X	OMIM|176975
EN-V1-3	KHDRBS2	0.87403861	1.17E-14	RNA binding protein	BrainSpLMD|202559	SFARI||Autism, 4 - Minimal evidence;OMIM|610487
EN-V1-3	CNTN1	1.239938613	1.22E-14	Adhesion molecule	BrainSpLMD|1272;Eurexp|euxassay_006852|4th ventricle, calyces, choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, marginal layer, maxilla, neural retina, olfactory, pelvis, pituitary, trigeminal V, ureter, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|12588	OMIM|600016;HPO|1272|Akinesia, Arachnodactyly, Areflexia, Autosomal recessive inheritance, Camptodactyly, Death in infancy, Fetal akinesia sequence, High, narrow palate, Hypertelorism, Joint contracture of the hand, Neonatal hypotonia, Oval face, Overlapping fingers, Polyhydramnios, Poor suck, Respiratory insufficiency due to muscle weakness, Scaphocephaly, Small for gestational age
EN-V1-3	TNR	0.865582386	1.31E-14	Extracellular matrix protein	BrainSpLMD|7143;Eurexp|euxassay_012507|mantle layer, tegmentum, ventral grey horn	OMIM|601995
EN-V1-3	TMOD2	0.924449699	1.47E-14	Cytoskeletal associated protein	BrainSpLMD|29767	OMIM|602928
EN-V1-3	MSRA	1.021518115	1.49E-14	Enzyme: Reductase	BrainSpLMD|4482	OMIM|601250
EN-V1-3	ACOT7	1.557243521	1.53E-14	Enzyme: Hydrolase	BrainSpLMD|11332;Eurexp|euxassay_011287|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, molar, neural retina, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|602587
EN-V1-3	RPL3	0.500459681	1.53E-14	Ribosomal subunit		OMIM|604163
EN-V1-3	YWHAB	0.550660661	1.57E-14	Adapter molecule	BrainSpLMD|7529;Eurexp|euxassay_012917|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn	OMIM|601289
EN-V1-3	PCDH11Y	1.854415746	1.59E-14	Adhesion molecule	BrainSpLMD|83259	OMIM|400022
EN-V1-3	YWHAZ	0.485798778	1.69E-14	Adapter molecule	BrainSpLMD|7534	OMIM|601288
EN-V1-3	CELF5	1.029303207	1.71E-14	RNA binding protein	BrainSpLMD|60680	OMIM|612680
EN-V1-3	RP11.613M5.2	0.702839622	1.98E-14			
EN-V1-3	BEX1	0.687251788	2.11E-14	Unclassified	BrainSpLMD|55859;Eurexp|euxassay_009948|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, metanephros, midgut, neural retina, olfactory, pancreas, paraxial mesenchyme, primitive seminiferous tubules, rest of mesenchyme, right lung, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|300690
EN-V1-3	TMEM175	0.782003133	2.95E-14	Unclassified	BrainSpLMD|84286	OMIM|616660
EN-V1-3	NAP1L3	1.31255981	3.26E-14	Unclassified	BrainSpLMD|4675;Eurexp|euxassay_002914|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|300117
EN-V1-3	CXXC4	1.726515969	3.67E-14	Unclassified	BrainSpLMD|80319;Eurexp|euxassay_008607|bladder, brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, head mesenchyme, incisor, larynx, medullary stroma, mesenchyme, midgut, molar, naris, neural retina, oesophagus, olfactory, pancreas, pelvic girdle, skeletal muscle, spinal cord, stomach, thoracic, thymus primordium, thyroid, trachea, trigeminal V, trunk mesenchyme, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|106413	OMIM|611645
EN-V1-3	SYNGR3	2.608630543	4.01E-14	Integral membrane protein	BrainSpLMD|9143;Eurexp|euxassay_003209|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|603927
EN-V1-3	RAB29	1.540983836	4.21E-14	GTPase	BrainSpLMD|8934	OMIM|603949
EN-V1-3	FAM81A	2.178995203	5.13E-14	Unclassified	BrainSpLMD|145773;Eurexp|euxassay_012569|choroid invagination, choroid plexus, epithelium, mandible, mantle layer, maxilla, olfactory, roof plate, trigeminal V, vibrissa	
EN-V1-3	RAP1GAP	2.613903334	5.21E-14	GTPase activating protein	BrainSpLMD|5909;Eurexp|euxassay_010532|brain, calyces, clavicle, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, mandible, maxilla, midgut, olfactory, pancreas, pelvic girdle, pelvis, radius, rib, scapula, spinal cord, tibia, trigeminal V, turbinate bones, ulna, vagus X, vestibulocochlear VIII	OMIM|600278
EN-V1-3	ADD2	1.010058708	5.53E-14	Anchor protein	BrainSpLMD|119;Eurexp|euxassay_000013|alar plate, basal plate, bladder, brain, cerebellum, cerebral cortex, diencephalon, dorsal root ganglion, facial VII, forebrain, ganglion, glossopharyngeal IX, gut, heart, lateral wall, left, liver, lobe, lung, mantle layer, marginal layer, neural retina, olfactory cortex, olfactory lobe, pons, retina, right, submandibular gland primordium, sulcus limitans, telencephalon, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	OMIM|102681
EN-V1-3	SCD5	0.886442395	6.41E-14	Enzyme: Oxidoreductase	BrainSpLMD|79966	OMIM|608370
EN-V1-3	RAB15	0.621606527	7.02E-14	GTPase	BrainSpLMD|376267	
EN-V1-3	CNTN4	2.348305497	7.37E-14	Adhesion molecule	BrainSpLMD|152330	SFARI||Autism, 2 - Strong candidate;OMIM|607280;HPO|152330|Atrioventricular canal defect, Brachycephaly, Cleft palate, Cognitive impairment, Cryptorchidism, Downturned corners of mouth, Epicanthus, Hearing impairment, High palate, Hypertelorism, Intrauterine growth retardation, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscular hypotonia, Postaxial hand polydactyly, Ptosis, Short stature, Telecanthus
EN-V1-3	YWHAH	0.776198918	7.54E-14	Adapter molecule	BrainSpLMD|7533;Eurexp|euxassay_007180|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|113508
EN-V1-3	SOBP	1.035975774	8.37E-14	Unclassified	BrainSpLMD|55084	OMIM|613667;HPO|55084|Autosomal recessive inheritance, Delayed speech and language development, Global developmental delay, Intellectual disability, severe, Open bite, Poor speech, Short attention span
EN-V1-3	STMN4	1.013352946	8.96E-14	Unclassified	BrainSpLMD|81551	
EN-V1-3	DSTN	0.610309589	9.58E-14	Cytoskeletal associated protein	BrainSpLMD|11034;Eurexp|euxassay_001919|atrium, bladder, brain, cervico-thoracic, dorsal root ganglion, epidermis, epithelium, glossopharyngeal IX, hindgut, midgut, neural retina, oesophagus, olfactory, oral epithelium, pharyngo-tympanic tube, respiratory, spinal cord, stomach, stroma, submandibular gland primordium, thoracic, thymus primordium, thyroid, trachea, trigeminal V, vagus X, ventricle, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, wall	OMIM|609114
EN-V1-3	RIMBP2	1.623095995	1.01E-13	Unclassified	BrainSpLMD|23504	OMIM|611602
EN-V1-3	FRMD3	1.359472944	1.13E-13	Structural protein	BrainSpLMD|257019	OMIM|607619
EN-V1-3	GAS5	0.555497576	1.26E-13			OMIM|608280
EN-V1-3	CRMP1	0.744434929	1.31E-13	Enzyme: Hydrolase	BrainSpLMD|1400;Eurexp|euxassay_006182|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, genital tubercle, glossopharyngeal IX, midgut, neural retina, rectum, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602462
EN-V1-3	TMEFF2	1.078867088	1.45E-13	Integral membrane protein	BrainSpLMD|23671;Eurexp|euxassay_000710|basal plate, cochlear component, dorsal root ganglion, facial VII, inferior, mesenchyme, superior, trigeminal V, vestibular component	OMIM|605734
EN-V1-3	CNRIP1	1.258444563	1.60E-13	Unclassified	BrainSpLMD|25927	
EN-V1-3	DAAM1	0.601387024	2.09E-13	Unclassified	BrainSpLMD|23002;BrainSpMouseDev|84026	OMIM|606626
EN-V1-3	SCN9A	1.190881512	2.14E-13	Voltage gated channel	BrainSpLMD|6335	SFARI||Autism, 2 - Strong candidate;OMIM|603415;HPO|6335|Abnormal cortical bone morphology, Abnormality of epiphysis morphology, Abnormality of metabolism/homeostasis, Abnormality of the ankles, Abnormality of the eye, Abnormality of the hip bone, Abnormality of the knee, Abnormality of the musculature, Absence seizures, Acral ulceration leading to autoamputation of digits, Anal pain, Anhidrosis, Anosmia, Areflexia, Ataxia, Atonic seizures, Autosomal dominant inheritance, Autosomal recessive inheritance, Blurred vision, Bradycardia, Constipation, Cutaneous photosensitivity, Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Decreased taste sensation, Diarrhea, Dysautonomia, Dystrophic fingernails, Dystrophic toenail, EEG abnormality, Episodic hyperhidrosis, Erythema, Febrile seizures, Feeding difficulties in infancy, Focal clonic seizures, Focal seizures, Foot acroosteolysis, Gastroesophageal reflux, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Hyperhidrosis, Hyperlordosis, Hypohidrosis, Hyporeflexia, Hyposmia, Impaired pain sensation, Infantile onset, Jaw pain, Juvenile onset, Keratoconjunctivitis sicca, Lacrimation abnormality, Mandibular pain, Muscular hypotonia, Myalgia, Neonatal onset, Neurodevelopmental delay, Obtundation status, Ocular pain, Osteolytic defects of the phalanges of the hand, Pain insensitivity, Painless fractures due to injury, Palpitations, Paronychia, Peripheral neuropathy, Pruritus, Pschomotor retardation, Reduced bone mineral density, Seizures, Skeletal muscle atrophy, Slow progression, Tachycardia, Tapered finger, Tremor, Urinary incontinence, Variable expressivity, Wormian bones, Xerostomia
EN-V1-3	CALM3	0.943029454	2.23E-13	Calcium binding protein	BrainSpLMD|808	OMIM|114183;HPO|808|Ventricular tachycardia, Vertigo
EN-V1-3	ATP1B1	0.81371075	2.23E-13	ATPase	BrainSpLMD|481;Eurexp|euxassay_014734|adenohypophysis, alar columns, atrium, autonomic, basal columns, basal plate, body, calyces, cardiac muscle, cerebellum, cerebral cortex, choroid plexus, collecting ducts, corpus striatum, cortex, cortical region, diencephalic part of interventricular foramen, dorsal root ganglion, duodenum, endocardial cushion tissue, endocardial tissue, epithalamus, epithelium, excretory component, extraembryonic component, facial VII, forebrain, fundus, ganglion, gastro-oesophageal junction, glossopharyngeal IX, head, heart, hindbrain, hindgut, hypogastric plexus, hypothalamus, infundibulum, interventricular groove, intraventricular portion, laryngeal, lateral wall, lower, lumen, lung, mantle layer, marginal layer, median eminence, medulla oblongata, medullary tubules, metanephros, midbrain, midgut, nasal septum, neurohypophysis, olfactory, pancreas, pars anterior, pars intermedia, pars nervosa, pars tuberalis, pericardium, physiological umbilical hernia, pituitary, pons, pyloric antrum, pyloric region, respiratory, respiratory system, respiratory tract, rest of alar plate, rostral part, stomach, sulcus limitans, sympathetic, tail, tegmentum, telencephalon, testis, thalamus, thoracic, trigeminal V, turbinate bones, upper, vagus X, ventricular layer, vestibulocochlear VIII, visceral organ	OMIM|182330
EN-V1-3	NPY1R	1.934156608	2.26E-13	G protein coupled receptor	BrainSpLMD|4886;Eurexp|euxassay_010087|dorsal grey horn, dorsal root ganglion, mantle layer, trigeminal V;BrainSpMouseDev|17933	OMIM|162641
EN-V1-3	RPS15A	0.923926223	2.68E-13	Ribosomal subunit	BrainSpLMD|6210	OMIM|603674
EN-V1-3	ATP6V1G2	1.285135849	2.71E-13	ATPase	Eurexp|euxassay_002941|basal plate, facial VII, glossopharyngeal IX, lateral wall, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|606853
EN-V1-3	PPP3CB	1.366295296	3.36E-13	Serine/threonine phosphatase	BrainSpLMD|5532	OMIM|114106
EN-V1-3	KCTD10	1.874470279	3.47E-13	Ion channel	BrainSpLMD|83892;Eurexp|euxassay_010579|clavicle, mandible, maxilla, midgut, rib	OMIM|613421
EN-V1-3	MYL12B	0.708186871	4.23E-13	Cytoskeletal protein		OMIM|609211
EN-V1-3	PRKAR2B	0.332309524	4.27E-13	Serine/threonine kinase	BrainSpLMD|5577;Eurexp|euxassay_012279|adrenal gland, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, lobe, midbrain, neural retina, skeletal muscle, spinal cord, submandibular gland primordium, telencephalon, testis, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|176912
EN-V1-3	GNAI1	0.742805313	4.33E-13	G protein	BrainSpLMD|2770;Eurexp|euxassay_009056|dorsal root ganglion	OMIM|139310
EN-V1-3	GUCY1B3	1.430821346	4.42E-13			
EN-V1-3	SCN3A	0.942933654	4.74E-13	Voltage gated channel	BrainSpLMD|6328	OMIM|182391
EN-V1-3	CACNA1E	0.587808515	4.75E-13	Voltage gated channel	BrainSpLMD|777;Eurexp|euxassay_006436|dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|601013
EN-V1-3	BEX2	0.754081914	5.20E-13	Unclassified	BrainSpLMD|84707;Eurexp|euxassay_006276|bladder, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, lumen, mesenchyme, skeletal muscle, thoracic, trigeminal V, vertebral axis muscle system	OMIM|300691
EN-V1-3	RPL4	0.543803497	5.66E-13	Ribosomal subunit	BrainSpLMD|6124	OMIM|180479
EN-V1-3	CHN2	1.536063449	5.92E-13	GTPase activating protein	BrainSpLMD|1124;Eurexp|euxassay_006113|embryo	OMIM|602857
EN-V1-3	HOMER2	1.720938783	5.95E-13	Unclassified	BrainSpLMD|9455;Eurexp|euxassay_009975|dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, mantle layer, marginal layer, olfactory, right lung, trigeminal V, vagus X, ventral grey horn, vomeronasal organ	OMIM|604799;HPO|9455|Autosomal dominant inheritance
EN-V1-3	RP11.75C9.2	1.32396599	6.83E-13			
EN-V1-3	ARHGAP23	0.661139489	7.00E-13			OMIM|610590
EN-V1-3	ICA1L	0.470692007	8.01E-13	Unclassified	BrainSpLMD|130026	
EN-V1-3	ASAH1	0.591297457	8.17E-13	Enzyme: Hydrolase	BrainSpLMD|427;Eurexp|euxassay_004481|lung	OMIM|613468;HPO|427|Areflexia, Arthralgia, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Cherry red spot of the macula, Decreased muscle mass, Degeneration of anterior horn cells, Dementia, Difficulty walking, EEG abnormality, EMG abnormality, Facial palsy, Failure to thrive, Frequent falls, Gait disturbance, Generalized myoclonic seizures, Gowers sign, Hepatomegaly, Hoarse cry, Intellectual disability, Irritability, Joint stiffness, Joint swelling, Juvenile onset, Kyphosis, Laryngomalacia, Lipogranulomatosis, Motor delay, Myoclonus, Neurological speech impairment, Nystagmus, Oral-pharyngeal dysphagia, Osteoporosis, Periarticular subcutaneous nodules, Progressive, Progressive distal muscular atrophy, Recurrent respiratory infections, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scoliosis, Short stature, Spinal muscular atrophy, Splenomegaly, Tongue fasciculations, Tremor, Variable expressivity
EN-V1-3	APLP1	0.985895319	8.60E-13	Transcription regulatory protein;Unclassified	BrainSpLMD|333;Eurexp|euxassay_005371|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, male, nasal septum, neural retina, olfactory, respiratory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|11590	OMIM|104775
EN-V1-3	CNTNAP3	1.822462351	8.75E-13	Adhesion molecule	Eurexp|euxassay_013224|mantle layer	SFARI||Autism, No category;OMIM|610517
EN-V1-3	INA	0.423550823	8.88E-13	Cytoskeletal protein	BrainSpLMD|9118;Eurexp|euxassay_012424|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|605338
EN-V1-3	LGALS8	1.24189259	9.16E-13	Extracellular matrix protein	BrainSpLMD|3964	OMIM|606099
EN-V1-3	TTC9	0.418501285	9.95E-13	Unclassified		OMIM|610488
EN-V1-3	RUNX1T1	1.036303511	1.02E-12	Transcription regulatory protein	BrainSpLMD|862;Eurexp|euxassay_016597|dorsal grey horn, mantle layer;BrainSpMouseDev|12180	OMIM|133435;COSMIC||AML
EN-V1-3	CELF2.AS2	1.193682211	1.09E-12			
EN-V1-3	RGS17	1.069283514	1.11E-12	GTPase activating protein	BrainSpLMD|26575	OMIM|607191
EN-V1-3	TSPAN7	0.961409126	1.21E-12	Cell surface receptor	BrainSpLMD|7102;Eurexp|euxassay_015336|bladder, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, pancreas, thoracic, trigeminal V, vagus X, ventricular layer, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|300096;HPO|7102|Intellectual disability, Intellectual disability, mild, X-linked recessive inheritance
EN-V1-3	NLGN4X	1.113106654	1.40E-12	Adhesion molecule;Integral membrane protein	BrainSpLMD|57502	SFARI||Autism, 3 - Suggestive evidence;OMIM|300427;HPO|57502|Autism, Childhood onset, Delayed speech and language development, EEG abnormality, Heterogeneous, Impaired use of nonverbal behaviors, Increased serum serotonin, Inflexible adherence to routines or rituals, Intellectual disability, Lack of peer relationships, Lack of spontaneous play, Multifactorial inheritance, Restrictive behavior, Seizures, Sporadic, Stereotypy, X-linked inheritance
EN-V1-3	JPH4	0.526874771	1.48E-12	Unclassified	BrainSpLMD|84502;Eurexp|euxassay_007469|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, mesenchyme, midbrain, rest of mesenchyme, spinal cord, telencephalon, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
EN-V1-3	KLHL32	2.035301042	1.65E-12	Cytoskeletal associated protein	BrainSpLMD|114792	
EN-V1-3	MIAT	0.371159311	2.54E-12			OMIM|611082
EN-V1-3	EEF1A2	0.604021139	2.64E-12	Translation regulatory protein	BrainSpLMD|1917	SFARI||Autism, No category;OMIM|602959;HPO|1917|Aggressive behavior, Autosomal dominant inheritance, Deeply set eye, Depressed nasal bridge, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus, Epileptic encephalopathy, Everted lower lip vermilion, Global developmental delay, Hypsarrhythmia, Infantile onset, Intellectual disability, Intellectual disability, severe, Low-set ears, Microcephaly, Muscular hypotonia, Neonatal hypotonia, Postnatal microcephaly, Seizures, Tented upper lip vermilion, Unsteady gait
EN-V1-3	CHP1	1.204591284	2.71E-12		BrainSpLMD|11261	OMIM|606988
EN-V1-3	RPL37A	0.260878491	2.71E-12	Ribosomal subunit	BrainSpLMD|6168;Eurexp|euxassay_006825|embryo	OMIM|613314
EN-V1-3	OPCML	1.044993702	2.79E-12	Adhesion molecule	BrainSpLMD|4978;Eurexp|euxassay_011103|dorsal root ganglion, epithalamus, facial VII, glossopharyngeal IX, mantle layer, marginal layer, tongue, trigeminal V	OMIM|600632
EN-V1-3	HMGB1P1	0.484073693	2.83E-12	Transcription regulatory protein		
EN-V1-3	KIF21B	0.621008557	3.09E-12	Unclassified	BrainSpLMD|23046;Eurexp|euxassay_011005|dorsal root ganglion, facial VII, forebrain, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|608322
EN-V1-3	SRGAP1	0.377540808	3.21E-12	GTPase activating protein	BrainSpLMD|57522	OMIM|606523
EN-V1-3	BEX5	1.016920669	3.22E-12	Unclassified		OMIM|300693
EN-V1-3	DPYSL3	0.516716798	3.22E-12	Enzyme: Hydrolase	BrainSpLMD|1809;Eurexp|euxassay_010399|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, midbrain, midgut, neural retina, olfactory, stomach, telencephalon, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|601168
EN-V1-3	FABP3	1.836572008	3.47E-12	Transport/cargo protein	BrainSpLMD|2170;Eurexp|euxassay_003367|Meckel's cartilage, cranium, incisor, lateral recess, molar, orbito-sphenoid, ventral grey horn, ventricle	SFARI||Autism, 5 - Hypothesized but untested;OMIM|134651
EN-V1-3	TUBBP1	0.632919054	3.83E-12			
EN-V1-3	L1CAM	0.531651761	3.95E-12	Adhesion molecule	BrainSpLMD|3897;Eurexp|euxassay_016867|alar columns, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vagus X, ventral grey horn, ventricle, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|16500	OMIM|308840;HPO|3897|Abnormal facial shape, Absent septum pellucidum, Adducted thumb, Aganglionic megacolon, Agenesis of corpus callosum, Aphasia, Aqueductal stenosis, Camptodactyly of finger, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Corticospinal tract hypoplasia, Delayed speech and language development, Flexion contracture of thumb, Gait disturbance, Hand clenching, Hemiplegia/hemiparesis, Hydrocephalus, Hyperlordosis, Hyperreflexia, Increased intracranial pressure, Inferior vermis hypoplasia, Intellectual disability, Intellectual disability, severe, Kyphosis, Macrocephaly, Microcephaly, Muscle weakness, Partial agenesis of the corpus callosum, Pes cavus, Seizures, Short stature, Shuffling gait, Spastic paraplegia, Spasticity, Strabismus, Talipes equinovarus, Ventriculomegaly, X-linked recessive inheritance
EN-V1-3	TUBB2BP1	1.062694374	3.98E-12			
EN-V1-3	RALYL	1.240220269	4.07E-12	RNA binding protein	BrainSpLMD|138046;Eurexp|euxassay_006099|brain, spinal cord, trigeminal V	OMIM|614648
EN-V1-3	TSTD1	1.03147367	4.27E-12	Unclassified		OMIM|616041
EN-V1-3	PGM2L1	0.257434124	4.44E-12	Enzyme: Mutase	BrainSpLMD|283209;Eurexp|euxassay_012530|brain, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611610
EN-V1-3	OPTN	0.49199113	4.92E-12	Transcription regulatory protein	BrainSpLMD|10133;Eurexp|euxassay_018492|embryo	OMIM|602432;HPO|10133|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dysarthria, Dysphagia, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Muscle weakness, Myopia, Neurodegeneration, Open angle glaucoma, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Tongue fasciculations, Xerostomia
EN-V1-3	SPTAN1	1.051741599	5.65E-12	Cytoskeletal protein;Structural protein	BrainSpLMD|6709;Eurexp|euxassay_012194|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lens, mantle layer, midgut, neural retina, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|182810;HPO|6709|Abnormality of skin morphology, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Developmental regression, Epileptic encephalopathy, Generalized hypotonia, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, profound, Intellectual disability, severe, Myoclonus, Progressive microcephaly, Seizures, Spastic tetraplegia, Variable expressivity
EN-V1-3	CTB.78F1.1	0.993919187	6.75E-12			
EN-V1-3	PAFAH1B3	0.723349251	6.88E-12	Enzyme: Acyltransferase	BrainSpLMD|5050	OMIM|603074
EN-V1-3	MAP6	0.796941396	7.00E-12	Cytoskeletal associated protein	BrainSpLMD|4135;Eurexp|euxassay_000634|cochlear component, dorsal root ganglion, facial VII, inferior, neural retina, olfactory, superior, trigeminal V, vestibular component	OMIM|601783
EN-V1-3	MAN1C1	0.888203247	7.48E-12	Enzyme: Hydrolase	BrainSpLMD|57134;Eurexp|euxassay_015930|marginal layer	OMIM|616772
EN-V1-3	NMNAT2	1.024306023	8.52E-12	Unclassified;Enzyme: Transferase	BrainSpLMD|23057;Eurexp|euxassay_007621|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, medulla oblongata, metencephalon, midbrain, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608701
EN-V1-3	CUX2	1.17258396	9.15E-12	Transcription factor	BrainSpMouseDev|12829	OMIM|610648
EN-V1-3	SYT1	0.411808847	9.27E-12	Calcium binding protein	BrainSpLMD|6857;Eurexp|euxassay_018026|adrenal gland, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, epithelium, external, facial VII, foregut-midgut junction, glossopharyngeal IX, hindbrain, hindgut, incisor, limb, mantle layer, marginal layer, mesenchyme, midbrain, midgut, neural retina, oesophagus, olfactory, oral epithelium, pectoralis major, pectoralis minor, pituitary, retina, spinal cord, stomach, stroma, thoracic, tongue, trigeminal V, ureter, urethra, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|20740	OMIM|185605
EN-V1-3	GPR22	0.703597209	9.31E-12	G protein coupled receptor	BrainSpLMD|2845	OMIM|601910
EN-V1-3	NAV3	0.707677351	1.09E-11	Unclassified	BrainSpLMD|89795	OMIM|611629
EN-V1-3	REEP5	1.157837173	1.10E-11	Integral membrane protein	BrainSpLMD|7905;Eurexp|euxassay_004460|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|125265
EN-V1-3	FOXP1	0.954787373	1.21E-11	Transcription factor	BrainSpLMD|27086;Eurexp|euxassay_012052|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, handplate, humerus, mantle layer, mesenchyme, metatarsus, nasal septum, orbito-sphenoid, pelvic girdle, rib, scapula, temporal bone, tibia, turbinate;BrainSpMouseDev|72814	SFARI||Autism, 2 - Strong candidate;OMIM|605515;COSMIC||ALL;HPO|27086|Aggressive behavior, Anemia, Autosomal dominant inheritance, B-cell lymphoma, Broad nasal tip, Constipation, Delayed gross motor development, Delayed speech and language development, Downslanted palpebral fissures, Fatigue, Fever, Generalized hypotonia, Hyperactivity, Hyperhidrosis, Hypertelorism, Intellectual disability, Macrocephaly, Nausea and vomiting, Nystagmus, Open mouth, Prominent forehead, Pulmonary infiltrates, Retrognathia, Short nose, Stereotypy, Strabismus, Weight loss
EN-V1-3	KCTD16	1.438538463	1.30E-11	Voltage gated channel	Eurexp|euxassay_011293|dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, mantle layer, neural retina, olfactory, trachea, trigeminal V, ventral grey horn, vestibulocochlear VIII, vomeronasal organ	OMIM|613423
EN-V1-3	HN1	0.689703327	1.33E-11			
EN-V1-3	YWHAE	0.397074885	1.37E-11	Adapter molecule	BrainSpLMD|7531;Eurexp|euxassay_018722|embryo	SFARI||Autism, 4 - Minimal evidence;OMIM|605066;COSMIC||endometrial stromal sarcoma, Miller-Dieker lissencephaly syndrome;HPO|7531|Abnormality of the cardiovascular system, Abnormality of upper lip, Anteverted nares, Cerebral cortical atrophy, Downslanted palpebral fissures, EEG abnormality, Epicanthus, Frontal bossing, Global developmental delay, Growth delay, High forehead, Hypertelorism, Lissencephaly, Low-set ears, Muscular hypotonia, Narrow mouth, Polyhydramnios, Seizures, Short neck, Short nose, Wide nose
EN-V1-3	KIAA1045	2.087400818	1.38E-11			
EN-V1-3	CDC42	0.862241225	1.43E-11	GTPase	BrainSpLMD|998;BrainSpMouseDev|12325	OMIM|116952
EN-V1-3	RPL5P1	0.518711644	1.44E-11			
EN-V1-3	GABRA2	1.141306465	1.58E-11	Ion channel	BrainSpLMD|2555;Eurexp|euxassay_008366|mantle layer, marginal layer;BrainSpMouseDev|14171	OMIM|137140
EN-V1-3	MMD	0.785896038	1.64E-11	Integral membrane protein	BrainSpLMD|23531;Eurexp|euxassay_002968|Meckel's cartilage, axial skeleton, bladder, dorsal root ganglion, facial VII, foregut-midgut junction, glossopharyngeal IX, head mesenchyme, hindgut, incisor, limb, midgut, molar, nasal capsule, neural retina, oesophagus, olfactory, pectoral girdle and thoracic body wall, rectum, retina, rib, stomach, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|604467
EN-V1-3	CDC42P6	0.580655639	1.66E-11			
EN-V1-3	NCOA1	1.120934535	1.72E-11	Enzyme: Transferase	BrainSpLMD|8648;Eurexp|euxassay_005512|diaphragm, dorsal grey horn, olfactory, vertebral axis muscle system;BrainSpMouseDev|17744	OMIM|602691;COSMIC||alveolar rhabdomyosarcoma
EN-V1-3	PPFIA2	0.900631592	1.76E-11	Anchor protein	BrainSpLMD|8499	OMIM|603143
EN-V1-3	ATOX1	0.797253165	1.83E-11	Chaperone	BrainSpLMD|475	OMIM|602270
EN-V1-3	ATP6V0B	1.039995594	1.90E-11	ATPase	BrainSpLMD|533;Eurexp|euxassay_004026|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|603717
EN-V1-3	CACNA2D1	0.80876223	1.92E-11	Voltage gated channel	BrainSpLMD|781;Eurexp|euxassay_006438|dorsal grey horn, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, pituitary, skeletal muscle, trigeminal V, ventral grey horn, vertebral axis muscle system;BrainSpMouseDev|12078	OMIM|114204;HPO|781|Atrial fibrillation, Bradycardia, Palpitations, Shortened QT interval
EN-V1-3	SLC35F2	1.243219469	2.07E-11	Membrane transport protein	BrainSpLMD|54733;Eurexp|euxassay_003909|genital tubercle, incisor, lateral wall, lung, mantle layer, metanephros, midgut, molar, naris, olfactory lobe, palatal shelf, pancreas, rectum, respiratory, submandibular gland primordium, thymus primordium, turbinate bones	
EN-V1-3	PPIAP22	0.668021167	2.18E-11			
EN-V1-3	RALGPS1	0.94817233	2.34E-11	Guanine nucleotide exchange factor	BrainSpLMD|9649	OMIM|614444
EN-V1-3	RP11.509E10.1	1.353853243	2.41E-11			
EN-V1-3	YWHAZP3	0.428058199	2.51E-11			
EN-V1-3	VDAC3	0.916827899	2.86E-11	Voltage gated channel	BrainSpLMD|7419;Eurexp|euxassay_007065|embryo	OMIM|610029
EN-V1-3	SH3GL3	1.766391423	3.06E-11	Unclassified	BrainSpLMD|6457	OMIM|603362
EN-V1-3	NDUFAF2	0.490560575	3.16E-11	Unclassified	BrainSpLMD|91942	OMIM|609653;HPO|91942|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, CNS demyelination, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Dysarthria, Dystonia, Emotional lability, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Gliosis, Global developmental delay, Growth delay, Hepatic failure, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Phenotypic variability, Pigmentary retinopathy, Progressive, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
EN-V1-3	RP1.240B8.3	1.308064891	3.32E-11			
EN-V1-3	TMEM14A	0.496743576	3.79E-11	Integral membrane protein	BrainSpLMD|28978	OMIM|616870
EN-V1-3	RP11.572P18.1	0.459057574	3.93E-11			
EN-V1-3	PEBP1	0.380191253	3.94E-11	Protease inhibitor	BrainSpLMD|5037	OMIM|604591
EN-V1-3	CUTA	0.913691904	4.27E-11	Unclassified	BrainSpLMD|51596	OMIM|616953
EN-V1-3	NCDN	1.16652139	4.32E-11	Unclassified	BrainSpLMD|23154;Eurexp|euxassay_001888|dorsal root ganglion, glossopharyngeal IX, marginal layer, trigeminal V, ventral grey horn	OMIM|608458
EN-V1-3	EIF4A2	0.55113186	4.34E-11	Translation regulatory protein	BrainSpLMD|1974	OMIM|601102;COSMIC||NHL
EN-V1-3	COTL1	1.437483572	4.88E-11	Unclassified	BrainSpLMD|23406;Eurexp|euxassay_010951|cortex, embryo, epithelium, lens, mantle layer, marginal layer, midgut, neural retina, olfactory, stomach, thymus primordium, trachea, ventricular layer;BrainSpMouseDev|47883	OMIM|606748
EN-V1-3	FADS3	2.118244755	5.10E-11	Enzyme: Oxidoreductase	BrainSpLMD|3995;Eurexp|euxassay_006636|clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, rib, trigeminal V, vagus X, ventral grey horn	OMIM|606150
EN-V1-3	TCEAL2	0.924197012	5.31E-11	Transcription regulatory protein	BrainSpLMD|140597	
EN-V1-3	SERPINI1	0.757905587	5.32E-11	Protease inhibitor	BrainSpLMD|5274;Eurexp|euxassay_007129|embryo	OMIM|602445;HPO|5274|Abnormality of extrapyramidal motor function, Autosomal dominant inheritance, Cerebral atrophy, Dementia, Diplopia, Distal sensory impairment, Dysarthria, Encephalopathy, Gliosis, Myoclonus, Neuronal loss in central nervous system, Nystagmus, Seizures
EN-V1-3	SNX10	0.774197014	5.33E-11	Transport/cargo protein	BrainSpLMD|29887	OMIM|614780;HPO|29887|Abnormal blistering of the skin, Abnormality of epiphysis morphology, Abnormality of hair texture, Abnormality of temperature regulation, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of visual evoked potentials, Anemia, Autosomal recessive inheritance, Bone pain, Bowing of the long bones, Chronic rhinitis, Craniosynostosis, Delayed eruption of teeth, Facial palsy, Failure to thrive, Feeding difficulties, Frontal bossing, Growth delay, Hearing impairment, Hepatomegaly, Hydrocephalus, Lymphadenopathy, Macrocephaly, Narrow chest, Nystagmus, Opsoclonus, Optic atrophy, Optic nerve compression, Osteopetrosis, Otitis media, Pallor, Premature loss of primary teeth, Recurrent fractures, Recurrent respiratory infections, Reduced bone mineral density, Splenomegaly, Thrombocytopenia, Tremor, Visual impairment
EN-V1-3	SPINT2	1.875977806	5.92E-11	Protease inhibitor	BrainSpLMD|10653;Eurexp|euxassay_010770|bladder, calyces, choroid invagination, choroid plexus, cochlea, cornea, ductus deferens, ear, epidermis, epithelium, incisor, larynx, left lung, mantle layer, metanephros, midgut, molar, olfactory, oral epithelium, pancreas, pelvis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, respiratory, right lung, roof plate, stomach, submandibular gland primordium, thymus primordium, thyroid, urethra, utricle, ventricle, vibrissa, vomeronasal organ;BrainSpMouseDev|20495	OMIM|605124;HPO|10653|Abdominal distention, Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Choanal atresia, Corneal erosion, Hypertelorism, Polyhydramnios, Secretory diarrhea
EN-V1-3	MT.CYB	0.30514136	5.93E-11			
EN-V1-3	RRAGD	1.141194174	6.02E-11	G protein	BrainSpLMD|58528	OMIM|608268
EN-V1-3	GRIA1	0.388341532	6.39E-11	Extracellular ligand gated channel	BrainSpLMD|2890;Eurexp|euxassay_018233|mantle layer, neural retina, palatal shelf, saccule;BrainSpMouseDev|14575	SFARI||Autism, 2 - Strong candidate;OMIM|138248
EN-V1-3	RPL18	0.685391269	6.65E-11	Ribosomal subunit	BrainSpLMD|6141	OMIM|604179
EN-V1-3	TBC1D30	1.632489254	6.69E-11			OMIM|615077
EN-V1-3	TBCB	1.167310406	6.89E-11	Chaperone	BrainSpLMD|1155	OMIM|601303
EN-V1-3	MTPN	0.551692736	7.27E-11	Cell cycle control protein		OMIM|606484
EN-V1-3	RPL23A	0.371703019	7.54E-11	RNA binding protein		OMIM|602326
EN-V1-3	GPR12	0.88948441	7.62E-11	G protein coupled receptor	BrainSpLMD|2835;Eurexp|euxassay_005675|cerebral cortex	OMIM|600752
EN-V1-3	RP11.254B13.1	0.529933856	8.14E-11			
EN-V1-3	ANO4	1.449153342	8.37E-11	Integral membrane protein	BrainSpLMD|121601;Eurexp|euxassay_010917|dorsal root ganglion, trigeminal V	OMIM|610111
EN-V1-3	CCDC23	0.567730237	8.89E-11			
EN-V1-3	PHACTR3	0.351287923	8.90E-11	Regulatory/other subunit	BrainSpLMD|116154	OMIM|608725
EN-V1-3	PPIAP29	0.595349076	9.02E-11			
EN-V1-3	MYO5B	1.314543739	1.04E-10	Structural protein	BrainSpLMD|4645;Eurexp|euxassay_010054|choroid plexus, cortex, mantle layer, midgut, skeletal muscle, vestibulocochlear VIII	OMIM|606540;HPO|4645|Autosomal recessive inheritance, Death in infancy, Dehydration, Growth delay, Malnutrition, Protracted diarrhea, Villous atrophy
EN-V1-3	CDK5R1	0.305132009	1.21E-10	Regulatory/other subunit	BrainSpLMD|8851;BrainSpMouseDev|12354	OMIM|603460
EN-V1-3	NME1	0.826574297	1.24E-10	Enzyme: Phosphotransferase	BrainSpLMD|4830	OMIM|156490;HPO|4830|Abdominal pain, Abnormality of the thorax, Anemia, Ataxia, Autosomal dominant inheritance, Bone pain, Diarrhea, Elevated urinary dopamine, Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Failure to thrive, Fever, Ganglioneuroblastoma, Ganglioneuroma, Heterogeneous, Horner syndrome, Hypertension, Incomplete penetrance, Myoclonus, Neuroblastoma, Opsoclonus, Skin nodule, Spinal cord compression, Sporadic, Weight loss
EN-V1-3	RPS3A	0.353749547	1.33E-10	Ribosomal subunit		OMIM|180478
EN-V1-3	NECAB1	0.441804057	1.34E-10	Calcium binding protein	BrainSpLMD|64168;Eurexp|euxassay_005971|embryo	
EN-V1-3	NACA	0.349156162	1.44E-10	Chaperone	BrainSpLMD|4666	OMIM|601234;COSMIC||NHL
EN-V1-3	3-Sep	0.705486354	1.49E-10			
EN-V1-3	JAZF1	0.504483566	1.61E-10	DNA binding protein	BrainSpLMD|221895;Eurexp|euxassay_014387|mantle layer, ventral grey horn;BrainSpMouseDev|87350	OMIM|606246;COSMIC||endometrial stromal tumour
EN-V1-3	NTRK3	0.406012555	1.61E-10	Receptor tyrosine kinase	BrainSpLMD|4916;Eurexp|euxassay_017897|corpus striatum, dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|17980	SFARI||Autism, 4 - Minimal evidence;OMIM|191316;COSMIC||congenital fibrosarcoma, secretory breast
EN-V1-3	FAM45A	0.407131039	1.62E-10	Unclassified		
EN-V1-3	EPHB6	0.907391996	1.74E-10	Receptor tyrosine kinase	BrainSpLMD|2051;Eurexp|euxassay_018946|calyces, diaphragm, incisor, mantle layer, molar, pericardial cavity, peritoneal cavity, pleural cavity, vibrissa;BrainSpMouseDev|13626	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602757
EN-V1-3	ZDHHC2	0.458981566	1.75E-10	Integral membrane protein	BrainSpLMD|51201;Eurexp|euxassay_000126|abducent VI, accessory XI, autonomic, basal plate, cervico-thoracic, corpus striatum, cranial, diencephalon, dorsal root ganglion, facial VII, gland, glossopharyngeal IX, hypoglossal XII, hypothalamus, inferior, lamina terminalis, lateral wall, mandibular division, mantle layer, maxillary division, nerve plexus, oculomotor III, olfactory I, olfactory cortex, olfactory lobe, ophthalmic division, optic II, parasympathetic, spinal cord, sulcus limitans, sympathetic, tegmentum, thalamus, thoracic, trigeminal V, trochlear IV, vagus X, vestibulocochlear VIII;BrainSpMouseDev|46387	
EN-V1-3	STXBP1	0.694120307	1.88E-10	Transport/cargo protein	BrainSpLMD|6812	SFARI||Autism, 3 - Suggestive evidence;OMIM|602926;HPO|6812|Absent speech, Ataxia, Autosomal dominant inheritance, Cerebral atrophy, Cerebral hypomyelination, Cutaneous photosensitivity, Developmental regression, EEG abnormality, EEG with burst suppression, Epileptic encephalopathy, Epileptic spasms, Febrile seizures, Focal clonic seizures, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic seizures, Generalized tonic-clonic seizures, Hypoplasia of the corpus callosum, Hypsarrhythmia, Impaired horizontal smooth pursuit, Infantile encephalopathy, Intellectual disability, severe, Muscular hypotonia, Neonatal onset, Neurodevelopmental delay, Obtundation status, Pschomotor retardation, Severe global developmental delay, Spastic paraplegia, Spastic tetraplegia, Status epilepticus, Tremor, Variable expressivity
EN-V1-3	RPS18	0.412846772	1.95E-10	Ribosomal subunit	BrainSpLMD|6222	OMIM|180473
EN-V1-3	TBC1D24	0.497403699	2.09E-10	Unclassified	BrainSpLMD|57465;Eurexp|euxassay_010949|brain, dorsal root ganglion, facial VII, liver, mesenchyme, neural retina, olfactory, retina, spinal cord, vestibulocochlear VIII	OMIM|613577;HPO|57465|Aggressive behavior, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Developmental regression, EEG with irregular generalized spike and wave complexes, Generalized myoclonic seizures, Global developmental delay, Hearing impairment, Intellectual disability, mild, Irritability, Mental deterioration, Myoclonus, Progressive hearing impairment, Slow progression
EN-V1-3	NTM	0.834590356	2.10E-10	Adhesion molecule	BrainSpLMD|50863;Eurexp|euxassay_012548|axial skeleton, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, meninges, mesenchyme, neural retina, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|87964	OMIM|607938
EN-V1-3	FGF14	1.460825597	2.33E-10	Growth factor	BrainSpLMD|2259;BrainSpMouseDev|13946	OMIM|601515;HPO|2259|Autosomal dominant inheritance, Dysmetric saccades, Head tremor, Heterogeneous, Impaired smooth pursuit, Intellectual disability, mild, Memory impairment, Sensory axonal neuropathy, Slow progression, Strabismus, Truncal ataxia
EN-V1-3	MAPRE2	0.535027033	2.34E-10	Cytoskeletal associated protein	BrainSpLMD|10982;Eurexp|euxassay_007836|cervical, cervico-thoracic, dorsal root ganglion, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|605789;HPO|10982|Autosomal dominant inheritance, Broad neck, Carious teeth, Cleft palate, Cryptorchidism, Delayed speech and language development, Downslanted palpebral fissures, Edema, Epicanthus, Flat face, Generalized hypotonia, Hypoplasia of the corpus callosum, Hypospadias, Increased number of skin folds, Irregular hyperpigmentation, Low-set ears, Microcornea, Micrognathia, Microphthalmia, Microtia, Motor delay, Narrow mouth, Posteriorly rotated ears, Scrotal hypoplasia, Seizures, Short neck, Short palpebral fissure, Thickened skin, Upslanted palpebral fissure
EN-V1-3	GUCY1A3	0.584341387	2.42E-10			
EN-V1-3	FBXO44	1.278389293	2.46E-10	Ubiquitin proteasome system protein	BrainSpLMD|93611	OMIM|609111
EN-V1-3	ATP1A3	0.819628587	2.48E-10	Transport/cargo protein	BrainSpLMD|478	SFARI||Autism, No category;OMIM|182350;HPO|478|Anxiety, Areflexia, Ataxia, Autosomal dominant inheritance, Blindness, Bradykinesia, Choreoathetosis, Depressivity, Drooling, Dysarthria, Dysmetria, Dysphagia, Dystonia, Emotional lability, Episodic ataxia, Episodic generalized hypotonia, Episodic quadriplegia, Gait ataxia, Global developmental delay, Hemiparesis, Hemiplegia, Hypomimic face, Incomplete penetrance, Intellectual disability, Mental deterioration, Muscle weakness, Mutism, Nystagmus, Optic atrophy, Parkinsonism, Pes cavus, Postural instability, Progressive sensorineural hearing impairment, Progressive visual loss, Status epilepticus, Torticollis, Truncal ataxia, Unsteady gait, Young adult onset
EN-V1-3	IGSF21	1.678336389	2.64E-10	Unclassified	BrainSpLMD|84966;Eurexp|euxassay_006157|cervical, cervico-thoracic, corpus striatum, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, olfactory, retina, thoracic, trigeminal V	
EN-V1-3	ETFB	1.095816207	2.78E-10	Enzyme: Oxidoreductase	BrainSpLMD|2109	SFARI||Autism, 3 - Suggestive evidence;OMIM|130410;HPO|2109|Abnormal facial shape, Abnormality of the genital system, Abnormality of the pinna, Autosomal recessive inheritance, Congenital cataract, Defective dehydrogenation of isovaleryl CoA and butyryl CoA, Depressed nasal bridge, Electron transfer flavoprotein-ubiquinone oxidoreductase defect, Ethylmalonic aciduria, Generalized aminoaciduria, Gliosis, Glutaric acidemia, Glutaric aciduria, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, High forehead, Hypoglycemia, Hypoglycemic coma, Jaundice, Macrocephaly, Muscle weakness, Muscular hypotonia, Nausea, Neonatal death, Pachygyria, Polycystic kidney dysplasia, Proximal tubulopathy, Pulmonary hypoplasia, Renal cortical cysts, Respiratory distress, Telecanthus, Vomiting, Wide anterior fontanel
EN-V1-3	LETM1	0.675218329	2.83E-10	Calcium binding protein	BrainSpLMD|3954	OMIM|604407;HPO|3954|Abnormal form of the vertebral bodies, Abnormal sternal ossification, Abnormality of the heart valves, Abnormality of the kidney, Abnormality of the pinna, Absent septum pellucidum, Accessory spleen, Aplasia cutis congenita of scalp, Aplasia/Hypoplasia of the lungs, Arachnodactyly, Ataxia, Atrial septal defect, Autosomal dominant inheritance, Calvarial skull defect, Cavum septum pellucidum, Cleft palate, Cleft upper lip, Congenital diaphragmatic hernia, Convex nasal ridge, Craniofacial asymmetry, Cryptorchidism, Decreased fetal movement, Decreased muscle mass, Delayed skeletal maturation, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Ectopia pupillae, Epicanthus, Failure to thrive, Frontal bossing, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemangioma, High anterior hairline, High forehead, Highly arched eyebrow, Hip dislocation, Hyperconvex fingernails, Hypertelorism, Hypodontia, Hypoplastic pubic rami, Hypospadias, Intellectual disability, severe, Intrauterine growth retardation, Iris coloboma, Kyphosis, Low posterior hairline, Low-set, posteriorly rotated ears, Malrotation of small bowel, Metatarsus adductus, Microcephaly, Micrognathia, Microtia, Muscular hypotonia, Nystagmus, Optic atrophy, Periventricular cysts, Preauricular pit, Preauricular skin tag, Preaxial hand polydactyly, Precocious puberty, Prominent glabella, Proptosis, Pseudoepiphyses of the metacarpals, Ptosis, Radioulnar synostosis, Rib fusion, Rib segmentation abnormalities, Rieger anomaly, Sacral dimple, Scoliosis, Seizures, Severe postnatal growth retardation, Short hallux, Short philtrum, Short stature, Short thumb, Short upper lip, Small for gestational age, Split hand, Sporadic, Stenosis of the external auditory canal, Stereotypy, Strabismus, Talipes equinovarus, Tethered cord, Ventricular septal defect, Ventriculomegaly, Vertebral fusion, Wide nasal bridge
EN-V1-3	CTA.276F8.1	1.059742732	2.84E-10			
EN-V1-3	LPPR5	0.947451169	2.89E-10			
EN-V1-3	RP11.981G7.6	0.342727735	2.98E-10			
EN-V1-3	UBE2QL1	0.896361743	3.09E-10		Eurexp|euxassay_007895|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, spinal cord, telencephalon, trigeminal V	OMIM|615832
EN-V1-3	1-Mar	0.800315601	3.36E-10			
EN-V1-3	NRG3	1.825598685	3.55E-10	Growth factor	BrainSpMouseDev|17950	OMIM|605533
EN-V1-3	DGKI	0.590606322	3.60E-10	Lipid Kinase	BrainSpLMD|9162;Eurexp|euxassay_010174|mantle layer, marginal layer	OMIM|604072
EN-V1-3	HMGB1P5	0.481609608	3.82E-10			
EN-V1-3	GNG2	0.577465213	4.00E-10	G protein	BrainSpLMD|54331;Eurexp|euxassay_003975|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606981
EN-V1-3	TUB	0.934425601	4.16E-10	Transcription regulatory protein	BrainSpLMD|7275	OMIM|601197;HPO|7275|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Astigmatism, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Myopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal dystrophy, Sensorineural hearing impairment, Visual impairment, Wide nasal bridge
EN-V1-3	ZYX	1.237436847	4.21E-10	Adhesion molecule	BrainSpLMD|7791;Eurexp|euxassay_010280|lobe, mesenchyme, skeletal muscle, vertebral axis muscle system	OMIM|602002
EN-V1-3	CDH12	1.976173403	4.24E-10	Adhesion molecule	BrainSpLMD|1010;Eurexp|euxassay_016537|bladder, femur, hindgut, humerus, midgut, scapula;BrainSpMouseDev|84832	OMIM|600562
EN-V1-3	PPIAP11	0.325054549	4.46E-10			
EN-V1-3	WSB2	0.386304486	4.57E-10	Ubiquitin proteasome system protein	BrainSpLMD|55884;Eurexp|euxassay_015363|brain, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vestibulocochlear VIII	
EN-V1-3	PSD3	0.819593331	5.19E-10	Guanine nucleotide exchange factor	BrainSpLMD|23362	SFARI||Autism, 4 - Minimal evidence;OMIM|614440
EN-V1-3	SNHG6	0.269527666	5.20E-10			OMIM|612215
EN-V1-3	UBC	0.88051238	5.57E-10	Ubiquitin proteasome system protein	BrainSpLMD|7316	OMIM|191340
EN-V1-3	EML1	0.802197087	6.09E-10	Structural protein	BrainSpLMD|2009	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602033;HPO|2009|Agenesis of corpus callosum, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Intellectual disability, severe, Macrocephaly, Polymicrogyria, Seizures, Sleep disturbance, Spasticity
EN-V1-3	UNC13A	1.69222774	6.16E-10	Calcium binding protein	Eurexp|euxassay_014553|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|609894;HPO|23025|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
EN-V1-3	ABI2	0.333401297	6.32E-10	Adapter molecule	BrainSpLMD|10152	OMIM|606442
EN-V1-3	SLC4A10	1.38106078	6.39E-10	Membrane transport protein	BrainSpLMD|57282;Eurexp|euxassay_019732|choroid plexus, olfactory lobe	SFARI||Autism, 4 - Minimal evidence;OMIM|605556
EN-V1-3	SCAMP1	0.496537525	6.49E-10	Membrane transport protein	BrainSpLMD|9522	OMIM|606911
EN-V1-3	RHOU	1.906803765	7.26E-10	GTPase	BrainSpLMD|58480	OMIM|606366
EN-V1-3	DPP6	1.158678191	7.44E-10	Membrane transport protein	BrainSpLMD|1804;Eurexp|euxassay_004610|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, intervertebral disc, neural retina, olfactory, pelvis, spinal cord, stroma, trigeminal V, vagus X, vertebral cartilage condensation, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|126141;HPO|1804|Alternating esotropia, Amblyopia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Chorioretinal degeneration, Decreased body weight, Delayed skeletal maturation, Intellectual disability, Microcephaly, Reduced number of teeth, Scoliosis, Short stature
EN-V1-3	HK1	0.933673919	7.44E-10	Enzyme: Sugar phosphotransferase	BrainSpLMD|3098	OMIM|142600;HPO|3098|Abnormality of the foot, Abnormality of the hand, Autosomal dominant inheritance, Autosomal recessive inheritance, Axonal regeneration, Cholecystitis, Cholelithiasis, Congenital onset, Constriction of peripheral visual field, Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers, Difficulty walking, Distal muscle weakness, Hyperbilirubinemia, Hyporeflexia, Jaundice, Macular atrophy, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Nyctalopia, Optic disc pallor, Peripheral hypomyelination, Peripheral neuropathy, Photophobia, Progressive, Reduced visual acuity, Reticulocytosis, Splenomegaly
EN-V1-3	SEC11C	0.963172048	7.84E-10	Aminopeptidase	BrainSpLMD|90701;Eurexp|euxassay_003588|clavicle, olfactory, orbito-sphenoid, submandibular gland primordium, thymus primordium, trachea	
EN-V1-3	SRGAP2	1.039077993	8.55E-10	GTPase activating protein	Eurexp|euxassay_013988|dorsal grey horn, mantle layer, ventricle, ventricular layer	OMIM|606524
EN-V1-3	CDH11	1.0218184	1.07E-09	Cell junction protein	BrainSpLMD|1009;BrainSpMouseDev|12337	SFARI||Autism, No category;OMIM|600023;COSMIC||aneurysmal bone cyst
EN-V1-3	ST8SIA2	0.772413564	1.10E-09	Enzyme: Sialyltransferase	BrainSpLMD|8128	SFARI||Autism, No category;OMIM|602546
EN-V1-3	LONRF2	0.607075511	1.29E-09	DNA binding protein	BrainSpLMD|164832;Eurexp|euxassay_010821|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V	
EN-V1-3	LDLRAD4	1.180866467	1.29E-09	Integral membrane protein	BrainSpLMD|753	OMIM|606571
EN-V1-3	NPY	1.783604989	1.35E-09	Unclassified	BrainSpLMD|4852;Eurexp|euxassay_000446|basal plate, diencephalon, dorsal grey horn, mantle layer, marginal layer, telencephalon;BrainSpMouseDev|73806	OMIM|162640
EN-V1-3	YWHAG	0.372135441	1.40E-09	Adapter molecule	BrainSpLMD|7532	OMIM|605356
EN-V1-3	POU3F1	0.390305636	1.46E-09	Transcription factor	BrainSpLMD|5453;BrainSpMouseDev|18754	OMIM|602479
EN-V1-3	CCDC28B	0.937914799	1.51E-09	Unclassified	BrainSpLMD|79140;Eurexp|euxassay_012331|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thymus primordium, thyroid, trigeminal V, vagus X	OMIM|610162
EN-V1-3	PCDH11X	1.200321663	1.54E-09	Cell junction protein	BrainSpLMD|27328;Eurexp|euxassay_015176|bladder, extrinsic ocular muscle, mantle layer, metatarsus, olfactory, phalanx, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|89410	SFARI||Autism, 4 - Minimal evidence;OMIM|300246
EN-V1-3	FBXL2	1.712795264	1.68E-09	Ubiquitin proteasome system protein	BrainSpLMD|25827;Eurexp|euxassay_015900|dorsal root ganglion, glossopharyngeal IX, trigeminal V	OMIM|605652
EN-V1-3	C6ORF174	0.38295584	1.77E-09			
EN-V1-3	ATAT1	0.713044837	1.82E-09	Unclassified	BrainSpLMD|79969;Eurexp|euxassay_009892|brain, neural retina, spinal cord	OMIM|615556
EN-V1-3	TCTEX1D2	0.601118823	1.83E-09	Unclassified	BrainSpLMD|255758	OMIM|617353;HPO|255758|Autosomal recessive inheritance, Brachydactyly, Short stature
EN-V1-3	ZBTB38	0.77197172	1.87E-09	Transcription regulatory protein		OMIM|612218
EN-V1-3	ZC2HC1A	0.280695984	1.89E-09	Unclassified	BrainSpLMD|51101;Eurexp|euxassay_014698|cochlear component, diencephalon, dorsal root ganglion, facial VII, hindbrain, inferior, medulla oblongata, metencephalon, midbrain, olfactory, spinal cord, superior, telencephalon, trigeminal V, turbinate bones, vagus X, vestibular component	
EN-V1-3	CRIP2	0.406431916	1.93E-09	Adapter molecule	BrainSpLMD|1397;Eurexp|euxassay_002192|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X, ventricle	OMIM|601183
EN-V1-3	MRPS21	0.673381886	1.97E-09	Ribosomal subunit	BrainSpLMD|54460	OMIM|611984
EN-V1-3	EIF3LP2	0.69067379	2.16E-09			
EN-V1-3	KIAA2022	0.310269788	2.19E-09			SFARI||Autism, 3 - Suggestive evidence
EN-V1-3	MAST1	0.311986343	2.41E-09	Serine/threonine kinase	BrainSpLMD|22983	OMIM|612256
EN-V1-3	TOMM20	0.514488059	2.44E-09	Membrane transport protein	BrainSpLMD|9804	SFARI||Autism, 5 - Hypothesized but untested;OMIM|601848
EN-V1-3	PTPRO	0.622684287	2.52E-09	Receptor tyrosine phosphatase	BrainSpLMD|5800;Eurexp|euxassay_000528|cerebral cortex, corpus striatum, hypothalamus, lateral wall, marginal layer, olfactory cortex, testis	OMIM|600579;HPO|5800|Autosomal recessive inheritance, Edema, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Variable expressivity
EN-V1-3	OST4	0.501498158	2.54E-09	-	Eurexp|euxassay_002153|Meckel's cartilage, orbito-sphenoid	
EN-V1-3	LIN7C	0.378973891	2.62E-09	Unclassified	BrainSpLMD|55327	OMIM|612332
EN-V1-3	RBFOX3	0.252826281	2.70E-09			OMIM|616999
EN-V1-3	UQCR11	0.424433259	2.71E-09	Enzyme: Reductase	BrainSpLMD|10975	OMIM|609711
EN-V1-3	ARPC4	0.486006557	2.75E-09	Cytoskeletal associated protein	Eurexp|euxassay_002361|dorsal root ganglion	OMIM|604226
EN-V1-3	ATP5G1	0.819138153	2.86E-09			
EN-V1-3	RP13.585F24.1	0.329049735	2.89E-09			
EN-V1-3	SHANK2	0.891534644	3.06E-09	Structural protein	BrainSpLMD|22941	SFARI||Autism, 2 - Strong candidate;OMIM|603290
EN-V1-3	POLE4	1.509797899	3.07E-09	DNA polymerase	BrainSpLMD|56655;BrainSpMouseDev|42822	OMIM|607269
EN-V1-3	ZNF33B	0.846268767	3.27E-09			OMIM|194522
EN-V1-3	ARL4A	0.930308323	3.28E-09	GTPase	BrainSpLMD|10124;Eurexp|euxassay_007257|lung, mandible, mantle layer, maxilla, meninges, oesophagus, urethra, vertebral axis muscle system	OMIM|604786
EN-V1-3	WASF1	0.26782194	3.28E-09	Adapter molecule	BrainSpLMD|8936;Eurexp|euxassay_004192|brain, dorsal root ganglion, glossopharyngeal IX, incisor, molar, spinal cord, trigeminal V, vagus X	OMIM|605035
EN-V1-3	GNAQ	0.582721069	3.98E-09	G protein	BrainSpLMD|2776	OMIM|600998;COSMIC||uveal melanoma, primary central nervous system melanocytic neoplasms;HPO|2776|Arachnoid hemangiomatosis, Arteriovenous malformation, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Buphthalmos, Capillary hemangiomas, Cerebral cortical atrophy, Choroidal hemangioma, Choroidal melanoma, Ciliary body melanoma, Facial hemangioma, Glaucoma, Hypermelanotic macule, Hyperreflexia, Intellectual disability, Iris melanoma, Macrocephaly, Nevus flammeus, Optic atrophy, Papule, Retinal detachment, Seizures, Sporadic, Strabismus, Stroke, Visual loss
EN-V1-3	DISP2	0.440029199	4.17E-09	Integral membrane protein	BrainSpLMD|85455;Eurexp|euxassay_009571|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, neural retina, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607503
EN-V1-3	PRSS12	0.96192455	4.60E-09	Serine protease	BrainSpLMD|8492;Eurexp|euxassay_015396|head mesenchyme, lower jaw, molar, nasal capsule, upper jaw;BrainSpMouseDev|18905	OMIM|606709;HPO|8492|Autosomal recessive inheritance, Babinski sign, Hyperactive deep tendon reflexes, Intellectual disability, Nystagmus, Strabismus
EN-V1-3	EPB41L1	1.419190872	4.62E-09	Cytoskeletal associated protein	BrainSpLMD|2036;Eurexp|euxassay_016807|arm, cortex, cranium, dermis, glossopharyngeal IX, head mesenchyme, hindgut, incisor, left lung, leg, loop, lumen, mandible, mantle layer, marginal layer, maxilla, mesenchyme, midgut, phalanx, right lung, stomach, trachea, trigeminal V, ventral grey horn, vertebral axis muscle system	OMIM|602879;HPO|2036|Autosomal dominant inheritance
EN-V1-3	BNIP3L	0.394899794	5.35E-09	Cell cycle control protein	BrainSpLMD|665;Eurexp|euxassay_002684|thymus primordium	OMIM|605368
EN-V1-3	PFDN5	0.392673007	5.56E-09	Chaperone	BrainSpLMD|5204	OMIM|604899
EN-V1-3	APBA1	0.677351675	5.66E-09	Adapter molecule	BrainSpLMD|320;Eurexp|euxassay_007658|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn;BrainSpMouseDev|106859	OMIM|602414
EN-V1-3	PRNP	1.23366004	6.27E-09	Membrane bound ligand	BrainSpLMD|5621;Eurexp|euxassay_007857|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, mantle layer, metanephros, neural retina, olfactory, thoracic, tongue, trachea, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ;BrainSpMouseDev|18885	OMIM|176640;HPO|5621|Abdominal symptom, Adult onset, Aggressive behavior, Akinetic mutism, Anxiety, Apathy, Aphasia, Apnea, Apraxia, Areflexia, Astrocytosis, Ataxia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Babinski sign, Basal ganglia gliosis, Bradykinesia, Central nervous system degeneration, Cerebellar atrophy, Childhood onset, Chorea, Clumsiness, Confusion, Constipation, Deficit in phonologic short-term memory, Delusions, Dementia, Depressivity, Diffuse spongiform leukoencephalopathy, Diplopia, Dysarthria, Dysautonomia, Dysmetria, Dysphagia, EEG with persistent abnormal rhythmic activity, Emotional lability, Encephalopathy, Extrapyramidal muscular rigidity, Fever, Focal T2 hyperintense basal ganglia lesion, Gait ataxia, Gliosis, Global brain atrophy, Hallucinations, Hemiparesis, Hyperhidrosis, Hyperreflexia, Hypersomnia, Impaired smooth pursuit, Incoordination, Insomnia, Irritability, Jaw pain, Limb ataxia, Loss of facial expression, Lower limb muscle weakness, Memory impairment, Muscle weakness, Myoclonus, Neurofibrillary tangles, Neuronal loss in central nervous system, Parkinsonism, Perseveration, Personality changes, Phenotypic variability, Poor visual behavior for age, Progressive cerebellar ataxia, Progressive extrapyramidal muscular rigidity, Progressive forgetfulness, Psychosis, Rapidly progressive, Restlessness, Rigidity, Seizures, Senile plaques, Short attention span, Sleep disturbance, Slurred speech, Spastic dysarthria, Spastic hemiparesis, Spasticity, Specific learning disability, Stroke-like episode, Supranuclear gaze palsy, Tremor, Truncal ataxia, Unsteady gait, Urinary retention, Visual impairment, Weight loss
EN-V1-3	KIF5C	0.411156849	6.36E-09	Motor protein	BrainSpLMD|3800;Eurexp|euxassay_015929|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, olfactory, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|16347	SFARI||Autism, No category;OMIM|604593;HPO|3800|Absent speech, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Congenital onset, Cortical dysplasia, Fetal akinesia sequence, Global developmental delay, Hypoplasia of the corpus callosum, Intrauterine growth retardation, Microcephaly, Polymicrogyria, Seizures, Spastic tetraplegia, Variable expressivity
EN-V1-3	GPI	0.551221804	6.69E-09	Enzyme: Isomerase	BrainSpLMD|2821	OMIM|172400;HPO|2821|Ataxia, Autosomal recessive inheritance, Cholecystitis, Decreased glucosephosphate isomerase activity, Impaired neutrophil bactericidal activity, Intellectual disability, Jaundice, Muscle weakness, Nonspherocytic hemolytic anemia, Pigment gallstones, Sensory ataxia, Splenomegaly, Spontaneous hemolytic crises
EN-V1-3	RP11.490G2.2	0.742996172	6.69E-09			
EN-V1-3	SERINC1	0.742523427	6.79E-09	Integral membrane protein	BrainSpLMD|57515;Eurexp|euxassay_003005|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614548
EN-V1-3	MDGA1	1.369002437	7.17E-09	Adhesion molecule	BrainSpLMD|266727;Eurexp|euxassay_011139|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|50603	OMIM|609626
EN-V1-3	FAM101B	1.144651716	8.00E-09			
EN-V1-3	TTLL7	0.57581859	8.04E-09	Enzyme: Ligase	BrainSpLMD|79739	
EN-V1-3	SLITRK4	1.441038335	8.16E-09	Integral membrane protein	BrainSpLMD|139065;Eurexp|euxassay_012160|ventricular layer	OMIM|300562
EN-V1-3	PTCHD1	1.978067244	8.43E-09	Integral membrane protein	BrainSpLMD|139411;Eurexp|euxassay_006479|dorsal grey horn, mantle layer, olfactory, ventral grey horn	SFARI||Autism, 2 - Strong candidate;OMIM|300828;HPO|139411|Intellectual disability
EN-V1-3	DNAJC6	1.150797559	9.02E-09	Chaperone	BrainSpLMD|9829;Eurexp|euxassay_006348|cervical, cervico-thoracic, dorsal root ganglion, epithelium, facial VII, genital tubercle, glossopharyngeal IX, mantle layer, marginal layer, midgut, neural retina, olfactory, stomach, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608375;HPO|9829|Abnormal pyramidal signs, Akinesia, Autosomal recessive inheritance, Bradykinesia, Brain atrophy, Cognitive impairment, Dysarthria, Dystonia, Fatigue, Gait ataxia, Hallucinations, Hypomimic face, Hyporeflexia, Inability to walk, Intellectual disability, Leg muscle stiffness, Parkinsonism, Pes cavus, Postural instability, Rapidly progressive, Resting tremor, Rigidity, Scoliosis, Seizures, Short stepped shuffling gait, Shuffling gait, Slow progression, Slowed slurred speech, Spasticity, Tremor, Weak voice
EN-V1-3	RPL13AP25	0.322923191	9.06E-09			
EN-V1-3	ANKH	0.917535606	9.85E-09	Membrane transport protein	BrainSpLMD|56172	OMIM|605145;HPO|56172|Abnormality of pelvic girdle bone morphology, Abnormality of the intervertebral disk, Abnormality of the metaphysis, Abnormality of the nasopharynx, Abnormality of the vertebral column, Adult onset, Arthralgia, Arthritis, Arthropathy, Autosomal dominant inheritance, Bony paranasal bossing, Calcification of cartilage, Calvarial osteosclerosis, Club-shaped distal femur, Craniofacial hyperostosis, Depressed nasal bridge, Erlenmeyer flask deformity of the femurs, Facial palsy, Hypertelorism, Joint swelling, Macrocephaly, Mandibular prognathia, Metaphyseal widening, Misalignment of teeth, Mixed hearing impairment, Nasal obstruction, Osteoarthritis, Osteopetrosis, Polyarticular chondrocalcinosis, Sclerosis of skull base, Skeletal dysplasia, Telecanthus, Wide nasal bridge
EN-V1-3	RPL13A	0.404144847	1.02E-08	Ribosomal subunit		
EN-V1-3	THY1	0.393636302	1.13E-08	Unclassified	BrainSpLMD|7070;Eurexp|euxassay_018968|anterior, calyces, dermis, femur, fibula, humerus, incisor, mantle layer, metanephros, pelvic girdle, pelvis, renal/urinary system, scapula, sublingual gland primordium, thymus primordium, tibia, ureter, ventral grey horn, vibrissa	OMIM|188230
EN-V1-3	PRRG3	0.764234914	1.14E-08	Integral membrane protein	BrainSpLMD|79057	OMIM|300685
EN-V1-3	ATP9A	0.595171555	1.16E-08	ATPase		OMIM|609126
EN-V1-3	SLC38A1	0.427139256	1.18E-08	Membrane transport protein	BrainSpLMD|81539;Eurexp|euxassay_019706|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, stomach, submandibular gland primordium, testis, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|608490
EN-V1-3	CHMP5	0.323752427	1.18E-08	Transport/cargo protein	BrainSpLMD|51510	OMIM|610900
EN-V1-3	ANKRD46	0.765901834	1.21E-08	Integral membrane protein	BrainSpLMD|157567;Eurexp|euxassay_007253|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	
EN-V1-3	FAM216A	0.414363792	1.26E-08	Unclassified	BrainSpLMD|29902;Eurexp|euxassay_006178|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, incisor, olfactory, retina, spinal cord, thoracic, trigeminal V	
EN-V1-3	SLCO3A1	0.807980493	1.30E-08	Membrane transport protein	BrainSpLMD|28232;Eurexp|euxassay_000780|cervical, cervico-thoracic, dorsal root ganglion, thoracic, vagus X	OMIM|612435
EN-V1-3	WWC1	0.678168231	1.44E-08	Unclassified	BrainSpLMD|23286	OMIM|610533
EN-V1-3	CHCHD3	0.385190635	1.47E-08	Unclassified	BrainSpLMD|54927;Eurexp|euxassay_001805|lobe, orbito-sphenoid, thymus primordium	OMIM|613748
EN-V1-3	RP11.408P14.1	1.276451918	1.50E-08			
EN-V1-3	ACTR3B	0.552489162	1.58E-08	Cytoskeletal associated protein	BrainSpLMD|57180;Eurexp|euxassay_004135|olfactory lobe, ventricular layer	
EN-V1-3	CSRNP3	0.670755644	1.61E-08	Unclassified	BrainSpLMD|80034;Eurexp|euxassay_009789|brain, mantle layer, spinal cord, trigeminal V, ventricular layer	
EN-V1-3	KIAA1467	0.489704284	1.62E-08			
EN-V1-3	KLHL8	1.152562423	1.65E-08	Unclassified	BrainSpLMD|57563;Eurexp|euxassay_008140|mantle layer, marginal layer	OMIM|611967
EN-V1-3	TTC9B	0.316865393	1.77E-08	Unclassified	BrainSpLMD|148014;Eurexp|euxassay_008050|dorsal root ganglion, glossopharyngeal IX, marginal layer, trigeminal V, vagus X	
EN-V1-3	PNMA2	1.182571343	1.85E-08	Unclassified	BrainSpLMD|10687;Eurexp|euxassay_005514|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|603970
EN-V1-3	LUC7L3	0.447931901	1.87E-08	Transcription regulatory protein	BrainSpLMD|51747	OMIM|609434
EN-V1-3	ISYNA1	1.284733693	1.98E-08	Enzyme: Isomerase	BrainSpLMD|51477	OMIM|611670
EN-V1-3	NBEA	0.427594564	2.07E-08	Anchor protein	BrainSpLMD|26960	SFARI||Autism, 4 - Minimal evidence;OMIM|604889;COSMIC||large intestine carcinoma, multiple myeloma
EN-V1-3	RPL7P23	0.530033296	2.16E-08			
EN-V1-3	VLDLR	0.616282002	2.21E-08	Cell surface receptor	BrainSpLMD|7436;Eurexp|euxassay_018469|clavicle, cortex, ductus deferens, incisor, mandible, mantle layer, marginal layer, maxilla, neural retina, olfactory, orbito-sphenoid, rib, ureter, ventral grey horn, ventricular layer, vomeronasal organ, wall	SFARI||Autism, 5 - Hypothesized but untested;OMIM|192977;HPO|7436|Abnormality of metabolism/homeostasis, Ataxia, Autosomal recessive inheritance, Broad-based gait, Cataract, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral palsy, Congenital onset, Cortical gyral simplification, Delayed speech and language development, Dysarthria, Dysdiadochokinesis, Dysmetria, Gait ataxia, Gait disturbance, Gaze-evoked nystagmus, Generalized hypotonia, Global developmental delay, Hyperreflexia, Hypoplasia of the brainstem, Intellectual disability, Intention tremor, Muscular hypotonia, Nonprogressive, Pachygyria, Pes planus, Poor speech, Seizures, Short stature, Skeletal muscle atrophy, Strabismus, Truncal ataxia
EN-V1-3	PTPN5	0.746064515	2.23E-08	Tyrosine phosphatase	BrainSpLMD|84867;Eurexp|euxassay_009726|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|176879
EN-V1-3	WIPF3	0.57164575	2.30E-08	Cytoskeletal associated protein	BrainSpLMD|644150	OMIM|612432
EN-V1-3	B3GALT1	0.536429002	2.37E-08	Enzyme: Galactosyltransferase	BrainSpLMD|8708	OMIM|603093
EN-V1-3	AKT3	0.288470637	2.39E-08	Serine/threonine kinase	BrainSpLMD|10000;Eurexp|euxassay_006568|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611223;COSMIC||GBM;HPO|10000|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Cutis marmorata, Depressed nasal bridge, Hemimegalencephaly, High forehead, Hydrocephalus, Hyperextensible skin, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
EN-V1-3	RPL7	0.285396467	2.58E-08	Ribosomal subunit		OMIM|604166
EN-V1-3	EFR3B	0.934416257	2.64E-08	Unclassified	BrainSpLMD|22979	OMIM|616797
EN-V1-3	SEMA4G	0.755178127	2.95E-08	Unclassified	BrainSpLMD|57715;Eurexp|euxassay_007828|cervical, cervico-thoracic, cortex, dorsal root ganglion, forebrain, fundus region, glossopharyngeal IX, hindbrain, hindgut, left, loop, midbrain, neural retina, olfactory, rectum, right, spinal cord, trigeminal V, urethra, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|26204	
EN-V1-3	CHGB	0.361877634	3.14E-08	Secreted polypeptide	BrainSpLMD|1114;Eurexp|euxassay_007010|brain, cervical, cervico-thoracic, facial VII, glossopharyngeal IX, medulla, midgut, neural retina, pancreas, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|118920
EN-V1-3	ENC1	1.000798408	3.53E-08	Structural protein	BrainSpLMD|8507;BrainSpMouseDev|13581	OMIM|605173
EN-V1-3	LSM11	1.384261384	3.57E-08	RNA binding protein	BrainSpLMD|134353;Eurexp|euxassay_002656|femur, nucleus pulposus, pectoral girdle and thoracic body wall, rib, turbinate bones	
EN-V1-3	CAMK4	0.929970248	3.58E-08	Serine/threonine kinase	BrainSpLMD|814;BrainSpMouseDev|12111	SFARI||Autism, 4 - Minimal evidence;OMIM|114080
EN-V1-3	NDUFS5	0.426138	3.73E-08	Enzyme: Oxidoreductase	BrainSpLMD|4725	OMIM|603847
EN-V1-3	ACSL6	1.490992319	3.75E-08	Enzyme: Synthase	BrainSpLMD|23305;Eurexp|euxassay_018903|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, olfactory, spinal cord, stroma, trigeminal V, vestibulocochlear VIII	OMIM|604443;COSMIC||AML, AEL
EN-V1-3	LRRTM4	1.079887684	3.95E-08	Integral membrane protein	BrainSpLMD|80059;Eurexp|euxassay_013925|mantle layer, marginal layer, tegmentum	OMIM|610870
EN-V1-3	SLC23A2	1.180649814	4.34E-08	Transport/cargo protein	BrainSpLMD|9962;Eurexp|euxassay_019254|adrenal gland, choroid plexus	OMIM|603791
EN-V1-3	HIVEP3	1.104077817	4.36E-08	Transcription regulatory protein	BrainSpLMD|59269;BrainSpMouseDev|16428	SFARI||Autism, 3 - Suggestive evidence;OMIM|606649
EN-V1-3	RP11.592N21.1	0.675833287	4.36E-08			
EN-V1-3	MOK	0.592587397	4.52E-08	Serine/threonine kinase	BrainSpLMD|5891	OMIM|605762
EN-V1-3	AC004453.8	0.525843569	4.60E-08			
EN-V1-3	MIR137HG	1.379604529	4.69E-08		BrainSpLMD|400765	
EN-V1-3	EIF3L	0.991010327	4.80E-08	Translation regulatory protein	BrainSpLMD|51386;Eurexp|euxassay_001532|thymus primordium	
EN-V1-3	AC018643.4	0.460819224	5.06E-08			
EN-V1-3	LINGO1	0.307994234	5.18E-08	Unclassified	BrainSpLMD|84894	OMIM|609791
EN-V1-3	GABARAPL2	0.285564441	5.33E-08	Transport/cargo protein	BrainSpLMD|11345	OMIM|607452
EN-V1-3	TUBA1B	0.631927412	5.41E-08	Structural protein	BrainSpLMD|10376	OMIM|602530
EN-V1-3	RPL10	0.539531252	5.49E-08	Ribosomal subunit	BrainSpLMD|6134;Eurexp|euxassay_015677|embryo	SFARI||Autism, 4 - Minimal evidence;OMIM|312173;COSMIC||T-ALL;HPO|6134|Abnormal facial shape, Ankle contracture, Branchial cyst, Camptodactyly, Cryptorchidism, Dental crowding, Finger syndactyly, Gastroesophageal reflux, Hypospadias, Knee flexion contracture, Laryngomalacia, Mandibular prognathia, Microcephaly, Muscular hypotonia, Protruding ear, Pulmonary artery stenosis, Recurrent infections, Sacral lipoma, Seizures, Self-injurious behavior, Sensorineural hearing impairment, Severe postnatal growth retardation, Single transverse palmar crease, Tapered finger, Thin upper lip vermilion
EN-V1-3	DYNLRB1	0.587267207	5.75E-08	Unclassified;Transport/cargo protein	BrainSpLMD|83658;Eurexp|euxassay_002535|dorsal root ganglion	OMIM|607167
EN-V1-3	PRMT2	0.576718738	5.75E-08	Enzyme: Methyltransferase	BrainSpLMD|3275	OMIM|601961
EN-V1-3	FEZ1	0.52358583	5.81E-08	Unclassified	BrainSpLMD|9638;BrainSpMouseDev|87970	OMIM|604825
EN-V1-3	ZFR2	1.129692014	5.83E-08	Unclassified		
EN-V1-3	HSPA8	0.538860212	5.99E-08	Heat shock protein	BrainSpLMD|3312	OMIM|600816
EN-V1-3	COPS8P2	1.850305513	6.09E-08			
EN-V1-3	RPS5	0.733349179	6.45E-08	Ribosomal subunit		OMIM|603630
EN-V1-3	ELOVL6	0.556207506	7.41E-08	Unclassified	BrainSpLMD|79071;Eurexp|euxassay_007796|embryo	OMIM|611546
EN-V1-3	PHACTR1	0.488354094	7.62E-08	Enzyme regulator		OMIM|608723
EN-V1-3	DPYD	1.036961393	7.72E-08	Enzyme: Dehydrogenase	Eurexp|euxassay_000078|Meckel's cartilage, alar plate, alveolar sulcus, cerebellum, cerebral cortex, choroid plexus, cranial muscle, dorsal root ganglion, epithelium, gut, hypothalamus, incisor, inner ear, internal sphincter, labyrinth, lamina terminalis, lateral wall, lower jaw, lumen, lung, mantle layer, marginal layer, masseter, meatus, mesenchyme, metanephros, metencephalon, midbrain, nasal cavity, neurohypophysis, nucleus pulposus, oesophagus, olfactory, ossicle, otic capsule, pectoral girdle and thoracic body wall, pelvic girdle, rest of cerebellum, retina, salivary gland, skeletal muscle, sublingual gland primordium, thalamus, thymus primordium, thyroid, tubo-tympanic recess, turbinate bones, urorectal septum, vagus X, ventricular layer, vertebral axis muscle system, vestibular component, vibrissa, vomeronasal organ	SFARI||Autism, 4 - Minimal evidence;OMIM|612779;HPO|1806|Abnormal eating behavior, Abnormality of vision, Astigmatism, Autism, Autistic behavior, Autosomal recessive inheritance, Broad nasal tip, Cerebral atrophy, Coloboma, Deeply set eye, Delayed speech and language development, Failure to thrive, Full cheeks, Generalized hypotonia, Global developmental delay, Growth delay, Hyperactivity, Hypertonia, Intellectual disability, Intellectual disability, mild, Lethargy, Long ear, Macrocephaly, Microcephaly, Microphthalmia, Motor delay, Myopia, Nystagmus, Obesity, Optic atrophy, Phenotypic variability, Reduced dihydropyrimidine dehydrogenase activity, Seizures, Short nose, Shyness, Tetraplegia, Upslanted palpebral fissure
EN-V1-3	ARSB	0.984163497	7.73E-08	Enzyme: Sulphatase	BrainSpLMD|411	OMIM|611542;HPO|411|Abnormality of the heart valves, Anterior wedging of L1, Anterior wedging of L2, Autosomal recessive inheritance, Broad ribs, Cardiomyopathy, Cervical myelopathy, Coarse facial features, Constrictive median neuropathy, Depressed nasal bridge, Dermatan sulfate excretion in urine, Disproportionate short-trunk short stature, Dolichocephaly, Dysostosis multiplex, Epiphyseal dysplasia, Flared iliac wings, Genu valgum, Glaucoma, Hearing impairment, Hepatomegaly, Hip dysplasia, Hirsutism, Hydrocephalus, Hypoplasia of the odontoid process, Hypoplastic acetabulae, Hypoplastic iliac wing, Inguinal hernia, Joint stiffness, Lumbar hyperlordosis, Macrocephaly, Macroglossia, Metaphyseal irregularity, Metaphyseal widening, Opacification of the corneal stroma, Ovoid vertebral bodies, Prominent sternum, Recurrent upper respiratory tract infections, Splenomegaly, Split hand, Umbilical hernia
EN-V1-3	BACH2	0.589803359	8.18E-08	Transcription factor	BrainSpLMD|60468;Eurexp|euxassay_002436|dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vibrissa;BrainSpMouseDev|11800	OMIM|605394
EN-V1-3	RPS3AP26	0.257761532	8.36E-08			
EN-V1-3	EPHA3	0.426119026	8.98E-08	Receptor tyrosine kinase	BrainSpLMD|2042;Eurexp|euxassay_018957|axial muscle, clavicle, cranial muscle, extrinsic ocular muscle, floorplate, head mesenchyme, incisor, lip, lung, mantle layer, marginal layer, mesenchyme, molar, naris, palatal shelf, pectoral girdle and thoracic body wall, skeletal muscle, tarsus, thymus primordium, tongue, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|13615	OMIM|179611;COSMIC||lung cancer, CRC, melanoma
EN-V1-3	MORF4	0.668868424	9.06E-08	Transcription factor		OMIM|116960
EN-V1-3	UBA52	0.398396394	9.22E-08	Ribosomal subunit	BrainSpLMD|7311	OMIM|191321
EN-V1-3	COX6A1	0.434914489	9.54E-08	Enzyme: Oxidoreductase		OMIM|602072;HPO|1337|Areflexia, Autosomal recessive inheritance, Distal sensory impairment, Foot dorsiflexor weakness, Hyporeflexia, Onion bulb formation, Pes cavus, Slow progression, Steppage gait
EN-V1-3	C2orf80	1.316647119	1.02E-07	Unclassified		OMIM|615536
EN-V1-3	DGKE	0.590975936	1.04E-07	Enzyme: Phosphotransferase	BrainSpLMD|8526	OMIM|601440;HPO|8526|Acute kidney injury, Autosomal recessive inheritance, Nephrotic syndrome, Progressive, Proteinuria, Thickening of the glomerular basement membrane
EN-V1-3	DRAXIN	0.909764844	1.07E-07	Unclassified	BrainSpLMD|374946;Eurexp|euxassay_006367|cerebral cortex, dorsal root ganglion, glossopharyngeal IX, lateral wall, mantle layer, marginal layer, meninges, neural retina, pons, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|46274	OMIM|612682
EN-V1-3	C4orf27	0.285004576	1.08E-07			
EN-V1-3	CADM3	1.216006134	1.10E-07	Immunoglobulin	BrainSpLMD|57863;Eurexp|euxassay_014341|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|60961	OMIM|609743
EN-V1-3	CACNG8	1.535396425	1.10E-07	Voltage gated channel	BrainSpLMD|59283;Eurexp|euxassay_002189|marginal layer	OMIM|606900
EN-V1-3	FAT4	0.868766168	1.13E-07	Adhesion molecule	BrainSpLMD|79633	OMIM|612411;COSMIC||lymphoma, pancreatic, head and neck, melanoma, hepatocellular carcinoma, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2;HPO|79633|Atresia of the external auditory canal, Autosomal recessive inheritance, Bifid scrotum, Blepharophimosis, Clinodactyly, Conductive hearing impairment, Congenital onset, Cryptorchidism, Cutaneous finger syndactyly, Dental malocclusion, Downturned corners of mouth, Epicanthus, Feeding difficulties, Generalized hypotonia, Growth delay, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypospadias, Intellectual disability, Irregular dentition, Joint laxity, Malar flattening, Micrognathia, Micropenis, Microtia, Midface retrusion, Narrow chest, Narrow forehead, Osteopenia, Ptosis, Renal hypoplasia, Sacral dimple, Scoliosis, Sensorineural hearing impairment, Short 4th metacarpal, Short clavicles, Short fourth metatarsal, Short palpebral fissure, Skeletal dysplasia, Talipes equinovarus, Tented upper lip vermilion, Tracheomalacia, Wide anterior fontanel, Wide cranial sutures, Wide nasal bridge
EN-V1-3	HAGH	1.668514749	1.26E-07	Enzyme: Hydrolase	BrainSpLMD|3029	OMIM|138760
EN-V1-3	C12orf57	0.588682653	1.26E-07	Unclassified	BrainSpLMD|113246	SFARI||Autism, No category;OMIM|615140;HPO|113246|Agenesis of corpus callosum, Aortic dilatation, Aortic regurgitation, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Brachydactyly, Chorioretinal coloboma, Coarse facial features, Convex nasal ridge, Dental crowding, Dolichocephaly, Downslanted palpebral fissures, Ectopia lentis, Frontal bossing, Generalized hypotonia, Genu varum, Global developmental delay, Highly arched eyebrow, Hip dislocation, Hypertelorism, Hypoplasia of teeth, Infantile onset, Intellectual disability, Intellectual disability, mild, Iris coloboma, Long face, Long philtrum, Lop ear, Low-set ears, Macrocephaly, Micrognathia, Myopia, Pes planus, Short 2nd toe, Short toe, Talipes equinovarus, Ventriculomegaly
EN-V1-3	RPSA	0.616987128	1.28E-07	Cell surface receptor;Ribosomal subunit	BrainSpLMD|3921	OMIM|150370;HPO|3921|Abnormality of abdomen morphology, Abnormality of metabolism/homeostasis, Asplenia, Autosomal dominant inheritance, Autosomal recessive inheritance, Infantile onset
EN-V1-3	PPP2R1A	0.721697	1.29E-07	Serine/threonine phosphatase	BrainSpLMD|5518;Eurexp|euxassay_002761|dorsal root ganglion, facial VII, glossopharyngeal IX, inferior, nucleus pulposus, superior, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII	OMIM|605983;COSMIC||clear cell ovarian carcinoma;HPO|5518|Abnormal hair whorl, Anteverted nares, Autosomal dominant inheritance, Broad hallux, Congenital visual impairment, Delayed gross motor development, Delayed myelination, Deviation of the 5th finger, Downslanted palpebral fissures, Facial asymmetry, Facial hypotonia, Generalized hypotonia, Global developmental delay, Hydrocephalus, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Joint hypermobility, Open mouth, Pectus excavatum, Plagiocephaly, Prominent metopic ridge, Seizures, Tented upper lip vermilion, Ventriculomegaly
EN-V1-3	PABPC1	0.719642681	1.35E-07	RNA binding protein	Eurexp|euxassay_005676|embryo	OMIM|604679;COSMIC||HNSCC, biliary tract carcinoma
EN-V1-3	RORB	0.795992266	1.35E-07	Transcription factor	BrainSpLMD|6096;Eurexp|euxassay_002725|diencephalon, dorsal grey horn, hindbrain, marginal layer, midbrain, neural retina, ventricular layer;BrainSpMouseDev|86335	OMIM|601972
EN-V1-3	RPSAP15	0.309180381	1.37E-07			
EN-V1-3	RP11.87H9.2	0.54038158	1.42E-07			
EN-V1-3	MAP4	0.499419076	1.45E-07	Cytoskeletal associated protein	BrainSpLMD|4134	OMIM|157132
EN-V1-3	CAMK2G	1.073109749	1.46E-07	Serine/threonine kinase	BrainSpLMD|818;Eurexp|euxassay_017931|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602123
EN-V1-3	TUSC3	0.82189258	1.49E-07	Integral membrane protein	BrainSpLMD|7991;Eurexp|euxassay_012104|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, peripheral nervous system, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|601385;HPO|7991|Autosomal recessive inheritance, Intellectual disability
EN-V1-3	METAP1	0.495496448	1.53E-07	Aminopeptidase	BrainSpLMD|23173	OMIM|610151
EN-V1-3	ARNTL2	1.189971574	1.64E-07	Transcription factor	BrainSpLMD|56938;BrainSpMouseDev|93055	OMIM|614517
EN-V1-3	ABR	1.371073097	1.64E-07	GTPase activating protein	BrainSpLMD|29;Eurexp|euxassay_008421|brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, mesenchyme, mesothelium, midgut, naso-lacrimal duct, olfactory, peritoneal cavity, rib, right lung, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|600365
EN-V1-3	KIF1A	0.327702821	1.65E-07	Motor protein	BrainSpLMD|547;Eurexp|euxassay_016778|alar plate, basal plate, cerebellum, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601255;HPO|547|Abnormal cortical bone morphology, Abnormality of epiphysis morphology, Abnormality of eye movement, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of the ankles, Abnormality of the eye, Abnormality of the hip bone, Abnormality of the knee, Abnormality of the palate, Abnormality of upper lip, Acral ulceration leading to autoamputation of digits, Anhidrosis, Ankle clonus, Anteverted nares, Areflexia, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Biparietal narrowing, Cerebellar atrophy, Cerebral cortical atrophy, Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Decreased taste sensation, Drowsiness, Dysmetria, Dystrophic fingernails, Dystrophic toenail, Edema of the lower limbs, Epicanthus, Episodic hyperhidrosis, External ear malformation, Feeding difficulties, Feeding difficulties in infancy, Foot acroosteolysis, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hydrocephalus, Hyperhidrosis, Hyperlordosis, Hyperreflexia, Hyporeflexia, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, severe, Limitation of joint mobility, Lower limb amyotrophy, Lower limb muscle weakness, Lower limb spasticity, Macrotia, Malar flattening, Microcephaly, Midface retrusion, Open mouth, Optic atrophy, Osteolytic defects of the phalanges of the hand, Painless fractures due to injury, Palpebral edema, Paronychia, Peripheral axonal neuropathy, Peripheral edema, Peripheral neuropathy, Porencephalic cyst, Progressive, Recurrent respiratory infections, Reduced bone mineral density, Severe muscular hypotonia, Short nose, Skeletal muscle atrophy, Slow progression, Spastic gait, Spastic paraplegia, Tapered finger, Urinary bladder sphincter dysfunction, Variable expressivity, Ventriculomegaly, Visual loss, Wormian bones
EN-V1-3	AC000089.3	0.397894509	1.78E-07			
EN-V1-3	KIAA0226	0.982967844	1.89E-07			
EN-V1-3	DPYSL5	0.729225164	2.01E-07	Unclassified	BrainSpLMD|56896;BrainSpMouseDev|41755	OMIM|608383
EN-V1-3	ZNF91	0.423955429	2.06E-07	Transcription regulatory protein	BrainSpLMD|7644	OMIM|603971
EN-V1-3	BANF1	0.471480384	2.09E-07	DNA binding protein	BrainSpLMD|8815	OMIM|603811;HPO|8815|Abnormality of the forearm, Abnormality of the ribs, Atherosclerosis, Autosomal recessive inheritance, Convex nasal ridge, Delayed closure of the anterior fontanelle, Dental crowding, Failure to thrive, Flexion contracture, Joint stiffness, Lipoatrophy, Malar flattening, Micrognathia, Midface retrusion, Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Progressive clavicular acroosteolysis, Proptosis, Pulmonary arterial hypertension, Right bundle branch block, Scoliosis, Short stature, Sinus tachycardia, Sparse and thin eyebrow, Sparse eyelashes, Spotty hyperpigmentation, Wide cranial sutures
EN-V1-3	CCDC184	0.679482321	2.09E-07	Unclassified	Eurexp|euxassay_006911|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
EN-V1-3	IGBP1	0.821070475	2.10E-07	Unclassified	BrainSpLMD|3476;Eurexp|euxassay_015599|embryo	OMIM|300139;HPO|3476|Agenesis of corpus callosum, Broad neck, Choanal atresia, Cleft palate, Cupped ear, Downslanted palpebral fissures, High forehead, High palate, Intellectual disability, Iris coloboma, Low-set ears, Macrocephaly, Nystagmus, Optic nerve coloboma, Patent ductus arteriosus, Pectus excavatum, Prominent nasal bridge, Retrognathia, Scoliosis, Sensorineural hearing impairment, Short neck, Short stature, Ventricular septal defect, Visual impairment, X-linked recessive inheritance
EN-V1-3	NOVA2	1.203439871	2.20E-07	RNA binding protein	BrainSpLMD|4858;Eurexp|euxassay_013411|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lung, mantle layer, neural retina, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|601991
EN-V1-3	CCDC90B	0.468844257	2.20E-07	Unclassified	BrainSpLMD|60492	
EN-V1-3	RABEP1	0.783261293	2.21E-07	GTPase activating protein	BrainSpLMD|9135	OMIM|603616;COSMIC||CMML
EN-V1-3	FHL1	0.500984489	2.25E-07	Unclassified	BrainSpLMD|2273;Eurexp|euxassay_018418|bladder, brain, diaphragm, dorsal root ganglion, head mesenchyme, limb, penis, rectum, spinal cord, tongue, vertebral axis muscle system	OMIM|300163;HPO|2273|Adult onset, Areflexia, Arrhythmia, Back pain, Elevated serum creatine phosphokinase, Flexion contracture, Foot dorsiflexor weakness, Frequent falls, Hyperlordosis, Hypertrophic cardiomyopathy, Hyporeflexia, Increased variability in muscle fiber diameter, Kyphosis, Lower limb muscle weakness, Myofibrillar myopathy, Progressive, Proximal muscle weakness, Rapidly progressive, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Rimmed vacuoles, Scapular winging, Scapuloperoneal myopathy, Scapuloperoneal weakness, Scoliosis, Short neck, Skeletal muscle atrophy, Spinal rigidity, Steppage gait, Waddling gait, X-linked dominant inheritance, X-linked inheritance, X-linked recessive inheritance
EN-V1-3	TARBP1	1.005072337	2.48E-07	RNA binding protein	BrainSpLMD|6894	OMIM|605052
EN-V1-3	TMEM108	0.709126345	2.51E-07	Unclassified	BrainSpLMD|66000;Eurexp|euxassay_002435|choroid plexus, lateral recess, marginal layer	OMIM|617361
EN-V1-3	COMMD2	1.070578825	2.59E-07	Unclassified	BrainSpLMD|51122	OMIM|616699
EN-V1-3	GABRB3	0.425878434	2.64E-07	Extracellular ligand gated channel	BrainSpLMD|2562;Eurexp|euxassay_008367|brain, facial VII, glossopharyngeal IX, mandible, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|14178	SFARI||Autism, 2 - Strong candidate;OMIM|137192;HPO|2562|Abnormality of brainstem morphology, Aggressive behavior, Ataxia, Atonic seizures, Atypical absence seizures, Autistic behavior, Autosomal dominant inheritance, Dyskinesia, EEG with focal sharp slow waves, Encephalopathy, Epileptic encephalopathy, Falls, Generalized hypotonia, Generalized tonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Hyperactivity, Infantile onset, Intellectual disability, Mental deterioration, Myoclonus, Personality disorder, Seizures
EN-V1-3	NHP2L1	0.693543784	2.65E-07			
EN-V1-3	RPL19	0.451122674	2.73E-07	Ribosomal subunit	BrainSpLMD|6143	OMIM|180466
EN-V1-3	UQCRH	0.421833942	3.19E-07	Enzyme: Reductase	Eurexp|euxassay_006525|anterior, axial skeleton, bladder, brain, cortex, epidermis, epithelium, external, footplate, handplate, incisor, inner ear, integumental system, left lung, liver, metanephros, midgut, molar, naso-lacrimal duct, olfactory, pancreas, paraxial mesenchyme, pharyngo-tympanic tube, posterior, rectum, renal/urinary system, rest of mesenchyme, rest of skin, retina, right lung, skeletal muscle, spinal cord, stomach, submandibular gland primordium, thymus primordium, trachea, urethra, vertebral axis muscle system, vibrissa	OMIM|613844
EN-V1-3	UBE2Q2P6	0.41572021	3.25E-07			
EN-V1-3	TCEAL5	0.746118373	3.33E-07	Transcription regulatory protein		
EN-V1-3	FAM84A	0.270479506	3.38E-07	Unclassified	BrainSpLMD|151354;Eurexp|euxassay_003388|respiratory, submandibular gland primordium, urethra, vibrissa	OMIM|611234
EN-V1-3	RP11.742N3.1	0.446004354	3.41E-07			
EN-V1-3	RPS3AP6	0.255519864	3.50E-07			
EN-V1-3	DTNA	0.542267807	3.62E-07	Unclassified	BrainSpLMD|1837;Eurexp|euxassay_010455|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|601239;HPO|1837|Atrial fibrillation, Autosomal dominant inheritance, Congestive heart failure, Hypoplastic left heart, Left ventricular hypertrophy, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Patent ductus arteriosus, Sudden cardiac death, Ventricular arrhythmia, Ventricular septal defect
EN-V1-3	SSX2IP	1.229533566	3.62E-07	Adhesion molecule	BrainSpLMD|117178	OMIM|608690
EN-V1-3	ATP6AP2	0.599066029	3.65E-07	Cell surface receptor	BrainSpLMD|10159	OMIM|300556;HPO|10159|Action tremor, Agraphesthesia, Astereognosia, Autosomal recessive inheritance, Babinski sign, Bradykinesia, Cerebellar atrophy, Cerebral atrophy, Cogwheel rigidity, Delayed speech and language development, Gait disturbance, Generalized tonic-clonic seizures, Hypomimic face, Hypoplasia of the corpus callosum, Hyporeflexia, Infantile onset, Intellectual disability, Motor delay, Parkinsonism, Resting tremor, Slow progression, Variable expressivity, X-linked recessive inheritance
EN-V1-3	KCNJ3	0.652010033	3.72E-07	Inward rectifier channel	BrainSpLMD|3760	OMIM|601534
EN-V1-3	KCNK2	1.473096062	3.80E-07	Ion channel;Membrane transport protein	BrainSpLMD|3776;Eurexp|euxassay_000689|limb, olfactory, ventral grey horn, ventricular layer;BrainSpMouseDev|16299	OMIM|603219
EN-V1-3	CD47	0.394584644	3.90E-07	Unclassified	BrainSpLMD|961;Eurexp|euxassay_003895|dorsal root ganglion, floorplate, glossopharyngeal IX, left, lip, mantle layer, marginal layer, olfactory, right, thalamus, thymus primordium, trigeminal V, ventral grey horn;BrainSpMouseDev|16196	OMIM|601028
EN-V1-3	RUNDC3B	1.15594823	3.95E-07	Unclassified	BrainSpLMD|154661	OMIM|617295
EN-V1-3	ACAT1	0.996575433	3.96E-07	Enzyme: Acyltransferase	BrainSpLMD|38	OMIM|607809;HPO|38|Autosomal recessive inheritance, Dehydration, Episodic ketoacidosis, Intellectual disability, Vomiting
EN-V1-3	KBTBD11	1.130290077	4.08E-07	Unclassified	BrainSpLMD|9920;Eurexp|euxassay_008912|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
EN-V1-3	GRIA4	0.654456557	4.08E-07	Extracellular ligand gated channel	BrainSpLMD|2893;Eurexp|euxassay_006297|bladder, brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, ductus deferens, facial VII, incisor, loop, medulla, metanephros, molar, neural retina, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|14578	OMIM|138246
EN-V1-3	RPS14	0.258199405	4.16E-07	Ribosomal subunit	BrainSpLMD|6208	OMIM|130620;HPO|6208|Abnormality of cells of the megakaryocyte lineage, Autosomal dominant contiguous gene syndrome, Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Somatic mutation, Sporadic
EN-V1-3	MDH2	0.463071959	4.34E-07	Enzyme: Dehydrogenase	BrainSpLMD|4191;BrainSpMouseDev|17216	OMIM|154100;HPO|4191|Absent speech, Autosomal recessive inheritance, Cerebellar atrophy, Constipation, Delayed myelination, Epileptic encephalopathy, Failure to thrive, Feeding difficulties, Global developmental delay, Hypoplasia of the corpus callosum, Inability to walk, Increased CSF lactate, Increased serum lactate, Poor head control, Seizures, Skeletal muscle atrophy, Strabismus
EN-V1-3	GSTM3	1.156188858	4.75E-07	Enzyme: Glutathione transferase	BrainSpLMD|2947;Eurexp|euxassay_018935|atrio-ventricular canal, axial muscle, basioccipital bone, basisphenoid bone, brain, central nervous system, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, labyrinth, lens, liver, mantle layer, nasal septum, neural retina, nucleus pulposus, olfactory, orbito-sphenoid, otic capsule, renal/urinary system, sphenoid, spinal cord, testis, trigeminal V, turbinate bones, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|138390
EN-V1-3	TSPAN14	0.81729684	4.93E-07	Integral membrane protein	BrainSpLMD|81619;Eurexp|euxassay_007132|embryo	
EN-V1-3	ARL15	1.222453781	5.35E-07	GTPase	BrainSpLMD|54622	
EN-V1-3	CD24P4	0.564425916	5.41E-07			
EN-V1-3	RPSAP58	0.345042579	5.44E-07		BrainSpLMD|388524	
EN-V1-3	EPHA4	0.452373155	5.64E-07	Receptor tyrosine kinase	BrainSpLMD|2043;BrainSpMouseDev|13616	OMIM|602188;HPO|2043|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
EN-V1-3	VDAC1P1	0.428196196	5.69E-07			
EN-V1-3	RPL32	0.376726097	5.70E-07	Ribosomal subunit		
EN-V1-3	FAM124A	1.169960119	5.77E-07	Unclassified	BrainSpLMD|220108	
EN-V1-3	RPS4X	0.719435511	5.82E-07	Ribosomal subunit	BrainSpLMD|6191;BrainSpMouseDev|19865	OMIM|312760
EN-V1-3	FKBP1A	0.331324098	6.02E-07	Enzyme: Isomerase	BrainSpLMD|2280;Eurexp|euxassay_003477|Meckel's cartilage, incisor, lip, mantle layer, molar, orbito-sphenoid, ventral grey horn, ventricular layer	OMIM|186945
EN-V1-3	HNRNPA1P10	0.481209755	6.10E-07			
EN-V1-3	LMO7	0.433753901	6.19E-07	Transcription regulatory protein	BrainSpLMD|4008	OMIM|604362
EN-V1-3	MDH1	0.752845542	6.35E-07	Enzyme: Dehydrogenase	BrainSpLMD|4190	OMIM|154200
EN-V1-3	UNC119	0.584577736	6.51E-07	Unclassified	BrainSpLMD|9094;Eurexp|euxassay_003513|left, right, thymus primordium	OMIM|604011;HPO|9094|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal dominant inheritance, Bronchiolitis obliterans organizing pneumonia, Immunodeficiency, Lymphopenia, Nyctalopia, Photophobia, Recurrent otitis media, Recurrent sinusitis
EN-V1-3	MYO5A	0.295075986	6.58E-07	Structural protein	BrainSpLMD|4644;Eurexp|euxassay_015107|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|160777;COSMIC||Spitzoid tumour, Griscelli syndrome;HPO|4644|Abnormality of movement, Accumulation of melanosomes in melanocytes, Ataxia, Autosomal recessive inheritance, Diplopia, Generalized hypotonia, Global developmental delay, Hyperlipidemia, Hypertonia, Hypopigmentation of hair, Hypopigmentation of the skin, Infantile onset, Intellectual disability, Iris hypopigmentation, Melanin pigment aggregation in hair shafts, Muscular hypotonia, Myopia, Nystagmus, Partial albinism, Premature graying of hair, Retinopathy, Seizures, Silver-gray hair, Specific learning disability, Tremor, White hair
EN-V1-3	TULP4	0.360091888	6.76E-07	Unclassified	BrainSpLMD|56995;Eurexp|euxassay_019639|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, marginal layer, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ;BrainSpMouseDev|44684	
EN-V1-3	SLC44A1	0.698091842	6.90E-07	Integral membrane protein	BrainSpLMD|23446;Eurexp|euxassay_019727|bladder, clavicle, cornea, femur, fibula, hindgut, liver, lung, mandible, mantle layer, maxilla, midgut, oesophagus, olfactory, orbito-sphenoid, palatal shelf, pancreas, phalanx, pituitary, rib, sternum, submandibular gland primordium, testis, thymus primordium, tibia, urethra, ventricular layer, vibrissa	OMIM|606105
EN-V1-3	MAP2	0.327456732	7.09E-07	Cytoskeletal associated protein	BrainSpLMD|4133;Eurexp|euxassay_015099|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|17523	SFARI||Autism, 5 - Hypothesized but untested;OMIM|157130
EN-V1-3	CCDC65	0.738071497	7.31E-07	Unclassified	BrainSpLMD|85478;Eurexp|euxassay_003694|choroid plexus, lateral recess, olfactory, roof plate	OMIM|611088;HPO|85478|Autosomal recessive inheritance, Bronchiectasis, Chronic bronchitis, Ciliary dyskinesia, Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Respiratory insufficiency due to defective ciliary clearance, Rhinitis, Sinusitis
EN-V1-3	CADPS	0.484956413	7.34E-07	Membrane transport protein	BrainSpLMD|8618;Eurexp|euxassay_006311|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral wall, mantle layer, meninges, neural retina, olfactory, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|604667
EN-V1-3	DNM3	1.042163845	7.66E-07	GTPase	BrainSpLMD|26052	OMIM|611445
EN-V1-3	PIP4K2B	0.892432162	7.72E-07	Lipid Kinase	BrainSpLMD|8396;Eurexp|euxassay_004158|diencephalon, mandible, olfactory, petrous part, telencephalon, ventricular layer	OMIM|603261
EN-V1-3	STK32B	1.292782166	7.75E-07	Serine/threonine kinase	BrainSpLMD|55351;Eurexp|euxassay_011693|exoccipital bone, fibula, footplate, hip, marginal layer, nasal septum, orbito-sphenoid, otic capsule, petrous part, rib, thyroid, tibia, trachea, turbinate, vault of skull, ventral grey horn	
EN-V1-3	KLC1	0.906164126	7.80E-07	Motor protein	BrainSpLMD|3831;Eurexp|euxassay_009774|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|600025
EN-V1-3	MOCS2	0.941400403	7.84E-07	Enzyme: Synthase	BrainSpLMD|4338	OMIM|603708;HPO|4338|Autosomal recessive inheritance, Axonal loss, Cerebral atrophy, Ectopia lentis, Feeding difficulties, Frontal bossing, Full cheeks, Gliosis, Growth delay, Hypertelorism, Hypoplasia of the corpus callosum, Hypouricemia, Increased urinary hypoxanthine, Increased urinary taurine, Long face, Long philtrum, Macrocephaly, Microcephaly, Molybdenum cofactor deficiency, Myoclonic spasms, Nystagmus, Opisthotonus, Peripheral demyelination, Progressive, Short nose, Spastic tetraplegia, Thick vermilion border, Ventriculomegaly, Xanthine nephrolithiasis, Xanthinuria
EN-V1-3	NR2F1.AS1	0.67173212	7.91E-07			
EN-V1-3	NRSN2	1.123807086	7.96E-07	Unclassified	BrainSpLMD|80023	OMIM|610666
EN-V1-3	RIMS1	0.985903614	8.08E-07	Transport/cargo protein	BrainSpLMD|22999	SFARI||Autism, 2 - Strong candidate;OMIM|606629;HPO|22999|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal dominant inheritance, Bull's eye maculopathy, Cone/cone-rod dystrophy, Nyctalopia, Photophobia, Retinal flecks, Visual impairment
EN-V1-3	ZBTB41	0.451759293	8.11E-07	DNA binding protein	BrainSpLMD|360023	
EN-V1-3	FARSB	0.4526471	8.50E-07	Enzyme: Ligase	BrainSpLMD|10056;Eurexp|euxassay_006146|axial muscle, brain, cortex, cranial muscle, dorsal root ganglion, excretory component, glossopharyngeal IX, liver, lung, midgut, olfactory, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|609690
EN-V1-3	CXorf23	0.332939383	8.66E-07			
EN-V1-3	AC007318.5	0.52184032	8.71E-07			
EN-V1-3	RIC3	0.531039652	8.88E-07	Integral membrane protein	BrainSpLMD|79608	OMIM|610509
EN-V1-3	ABCA5	1.289198134	9.04E-07	Membrane transport protein	BrainSpLMD|23461	OMIM|612503;HPO|23461|Coarse facial features, Delayed eruption of teeth, EEG abnormality, Generalized hirsutism, Gingival fibromatosis, Gingival overgrowth
EN-V1-3	MAPK8IP2	1.484451992	9.18E-07	Adapter molecule	BrainSpLMD|23542;Eurexp|euxassay_018553|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, brain, cervical, cervico-thoracic, clavicle, facial VII, femur, fibula, glossopharyngeal IX, humerus, nasal septum, neural retina, olfactory, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, spinal cord, tibia, trigeminal V, turbinate bones, ulna, vagus X, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, 5 - Hypothesized but untested;OMIM|607755
EN-V1-3	ARHGEF3	0.593143606	9.70E-07	Guanine nucleotide exchange factor	BrainSpLMD|50650	OMIM|612115
EN-V1-3	WI2.1896O14.1	1.258130625	9.72E-07			
EN-V1-3	CAP2	0.800547519	1.00E-06	Unclassified	BrainSpLMD|10486;Eurexp|euxassay_002560|diaphragm, head mesenchyme, marginal layer, tongue, vertebral axis muscle system	
EN-V1-3	STX1A	1.07879789	1.08E-06	Membrane transport protein	BrainSpLMD|6804;BrainSpMouseDev|20669	SFARI||Autism, No category;OMIM|186590;HPO|6804|Biliary cirrhosis, Decreased antibody level in blood, Exocrine pancreatic insufficiency, Immunodeficiency, Malabsorption, Pulmonary fibrosis, Recurrent respiratory infections
EN-V1-3	RNF219	0.42360814	1.10E-06	Ubiquitin proteasome system protein	BrainSpLMD|79596	OMIM|615906
EN-V1-3	RPL22	0.646975178	1.12E-06	Ribosomal subunit	BrainSpLMD|6146	OMIM|180474;COSMIC||AML, CML
EN-V1-3	ATP5A1	0.615350395	1.12E-06			
EN-V1-3	NIPSNAP3A	0.778936688	1.14E-06	Transport/cargo protein	BrainSpLMD|25934	OMIM|608871
EN-V1-3	USP11	1.003606724	1.15E-06	Ubiquitin proteasome system protein	BrainSpLMD|8237;Eurexp|euxassay_015355|brain, dorsal root ganglion, spinal cord	OMIM|300050
EN-V1-3	AKR1C1	0.611424725	1.16E-06	Enzyme: Reductase	BrainSpLMD|1645	OMIM|600449
EN-V1-3	NDUFA4	0.268582935	1.18E-06	Enzyme: Oxidoreductase	BrainSpLMD|4697;Eurexp|euxassay_003412|adenohypophysis, adrenal gland, bladder, brain, dorsal root ganglion, facial VII, glossopharyngeal IX, heart, incisor, liver, lung, metanephros, midgut, molar, neural retina, olfactory, orbito-sphenoid, pancreas, respiratory, segmental spinal nerve, spinal cord, stomach, stroma, submandibular gland primordium, thymus primordium, tongue, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|603833
EN-V1-3	CELF1	0.487741737	1.22E-06	RNA binding protein	BrainSpLMD|10658	OMIM|601074
EN-V1-3	TRIM23	0.33515143	1.27E-06	GTPase	BrainSpLMD|373	OMIM|601747
EN-V1-3	CHMP2B	0.373126725	1.29E-06	Transport/cargo protein	BrainSpLMD|25978;Eurexp|euxassay_017077|dorsal grey horn, intermediate grey horn, mantle layer, ventral grey horn, ventricular layer, vibrissa	OMIM|609512;HPO|25978|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Adult onset, Aggressive behavior, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apathy, Apraxia, Areflexia, Astrocytosis, Autosomal dominant inheritance, Babinski sign, Bulbar signs, Cerebral cortical atrophy, Collectionism, Depressivity, Disinhibition, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphagia, Dysphasia, Dyspnea, Dystonia, EEG with continuous slow activity, Echolalia, Emotional blunting, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontal release signs, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait disturbance, Generalized muscle weakness, Grammar-specific speech disorder, Hyperorality, Hyperreflexia, Hyporeflexia, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Muscle cramps, Mutism, Myoclonus, Neurodegeneration, Neuronal loss in central nervous system, Orofacial dyskinesia, Pain, Paralysis, Perseveration, Personality changes, Poor speech, Rapidly progressive, Respiratory failure, Respiratory insufficiency due to muscle weakness, Restlessness, Restrictive behavior, Rigidity, Skeletal muscle atrophy, Spasticity, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold, Urinary incontinence, Xerostomia
EN-V1-3	RPL8	0.471523559	1.30E-06	Ribosomal subunit	BrainSpLMD|6132;Eurexp|euxassay_006230|left, right	OMIM|604177
EN-V1-3	PTRHD1	0.757539779	1.31E-06	Unclassified		OMIM|617342
EN-V1-3	RNF165	0.31662145	1.34E-06		BrainSpLMD|494470	
EN-V1-3	FIS1	0.35330774	1.43E-06	Unclassified	BrainSpLMD|51024	OMIM|609003
EN-V1-3	BCL6	1.742227348	1.47E-06	Transcription factor	BrainSpLMD|604;BrainSpMouseDev|11839	OMIM|109565;COSMIC||NHL, CLL;HPO|604|Fatigue, Fever, Lymphoma, Mediastinal lymphadenopathy, Night sweats, Splenomegaly, Weight loss
EN-V1-3	ERC2	0.499363881	1.48E-06	Cytoskeletal associated protein	BrainSpLMD|26059;Eurexp|euxassay_003848|adenohypophysis, adrenal gland, bladder, brain, cervical, cervico-thoracic, dermis, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, lung, metanephros, midgut, oesophagus, olfactory, retina, spinal cord, stomach, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|617250
EN-V1-3	ATP8A2	0.272176059	1.50E-06	ATPase	BrainSpLMD|51761;Eurexp|euxassay_009705|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605870;HPO|51761|Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Cerebral palsy, Congenital onset, Corpus callosum atrophy, Dysarthria, Gait disturbance, Hyperreflexia, Inability to walk, Intellectual disability, Muscular hypotonia, Seizures, Short stature, Skeletal muscle atrophy, Strabismus, Truncal ataxia
EN-V1-3	MAPK8	0.676490337	1.51E-06	Serine/threonine kinase	BrainSpLMD|5599;Eurexp|euxassay_018521|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X;BrainSpMouseDev|26167	OMIM|601158
EN-V1-3	RNF187	0.910287653	1.53E-06	Unclassified		OMIM|613754
EN-V1-3	GRM7	0.602486037	1.57E-06	G protein coupled receptor	BrainSpLMD|2917	SFARI||Autism, 4 - Minimal evidence;OMIM|604101
EN-V1-3	HEATR1	1.100298108	1.60E-06	Unclassified	BrainSpLMD|55127;Eurexp|euxassay_000061|excretory component, liver, lung, physiological umbilical hernia, skeletal muscle, submandibular gland primordium, testis, thymus primordium, ventricular layer	
EN-V1-3	CDKL2	0.715220964	1.65E-06	Serine/threonine kinase	BrainSpLMD|8999	OMIM|603442
EN-V1-3	APBB1	0.755736451	1.87E-06	Adapter molecule	BrainSpLMD|322;Eurexp|euxassay_018324|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|602709
EN-V1-3	EFCAB7	0.904322259	1.89E-06	Calcium binding protein	BrainSpLMD|84455	OMIM|617632
EN-V1-3	ARHGAP35	0.871992451	1.91E-06	Nuclear receptor	BrainSpLMD|2909	OMIM|605277
EN-V1-3	NUDT3	0.380865733	1.93E-06	Enzyme: Hydrolase	BrainSpLMD|11165	OMIM|609228
EN-V1-3	RPLP0	0.620080706	2.01E-06	Ribosomal subunit	BrainSpLMD|6175	OMIM|180510
EN-V1-3	ZCCHC17	0.396221715	2.07E-06	RNA binding protein	BrainSpLMD|51538	
EN-V1-3	FAIM2	0.695914558	2.15E-06	Unclassified	BrainSpLMD|23017	OMIM|604306
EN-V1-3	SEC14L1	0.311446012	2.16E-06	Transport/cargo protein	BrainSpLMD|6397;Eurexp|euxassay_013817|lung, marginal layer	OMIM|601504
EN-V1-3	CAMKK2	0.313193202	2.17E-06	Enzyme: Phosphorylase	BrainSpLMD|10645;Eurexp|euxassay_003670|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, midbrain, neural retina, telencephalon, testis, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|615002
EN-V1-3	RPS15	0.287238215	2.18E-06	Ribosomal subunit	BrainSpLMD|6209;Eurexp|euxassay_006826|embryo	OMIM|180535
EN-V1-3	RPS3AP47	0.67647444	2.22E-06			
EN-V1-3	SSBP3	0.521589707	2.24E-06	DNA binding protein	BrainSpLMD|23648	OMIM|607390
EN-V1-3	EEF2	0.54635956	2.49E-06	Translation regulatory protein	BrainSpLMD|1938	OMIM|130610;HPO|1938|Adult onset, Autosomal dominant inheritance, Cerebellar atrophy, Dysarthria, Dysmetric saccades, Gait ataxia, Impaired horizontal smooth pursuit, Incoordination, Limb ataxia, Nystagmus, Slow progression, Truncal ataxia
EN-V1-3	RFX3	0.251238917	2.56E-06	Transcription factor	BrainSpLMD|5991	SFARI||Autism, 4 - Minimal evidence;OMIM|601337
EN-V1-3	EIF4A1P10	1.646558228	2.57E-06			
EN-V1-3	PTPN13	0.930674466	2.58E-06	Tyrosine phosphatase	BrainSpLMD|5783	OMIM|600267;COSMIC||lung, NSCLC, gastric, peritoneal carcinomatosis, hepatocellular
EN-V1-3	AP3S1	0.600914262	2.61E-06	Adapter molecule	BrainSpLMD|1176	OMIM|601507
EN-V1-3	ATP6V1A	0.353191205	2.64E-06	Transport/cargo protein	BrainSpLMD|523;Eurexp|euxassay_004518|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|607027;HPO|523|Abnormal apolipoprotein level, Abnormal isoelectric focusing of serum transferrin, Abnormal subcutaneous fat tissue distribution, Broad nasal tip, Carious teeth, Cerebellar hypoplasia, Coarse hair, Congenital hip dislocation, Dandy-Walker malformation, Decreased muscle mass, Delayed closure of the anterior fontanelle, Delayed speech and language development, Dementia, Downslanted palpebral fissures, Excessive wrinkled skin, Failure to thrive, Feeding difficulties, Fragmented elastic fibers in the dermis, Generalized joint laxity, Global developmental delay, High palate, Hypertelorism, Infantile muscular hypotonia, Inguinal hernia, Intellectual disability, profound, Intrauterine growth retardation, Lipodystrophy, Lissencephaly, Long philtrum, Low-set ears, Malar flattening, Motor delay, Pachygyria, Polymicrogyria, Poor speech, Postnatal growth retardation, Progressive microcephaly, Prominent nasolabial fold, Prominent veins on trunk, Psychomotor deterioration, Redundant neck skin, Seizures, Severe Myopia, Short nose, Short stature, Smooth philtrum, Sparse hair, Spasticity, Strabismus, Subretinal pigment epithelium hemorrhage, Thick cerebral cortex, Thick hair
EN-V1-3	PKP4	0.775674809	2.66E-06	Cell junction protein	BrainSpLMD|8502	OMIM|604276
EN-V1-3	TSPYL5	0.555504724	2.74E-06	Unclassified	BrainSpLMD|85453	OMIM|614721
EN-V1-3	C6orf1	0.498521039	2.80E-06			
EN-V1-3	ARHGEF12	0.597264019	2.83E-06	Guanine nucleotide exchange factor	BrainSpLMD|23365	OMIM|604763;COSMIC||AML
EN-V1-3	TSPAN18	1.012674824	2.84E-06	Integral membrane protein	BrainSpLMD|90139;Eurexp|euxassay_002400|ventricular layer	
EN-V1-3	BAIAP2.AS1	0.510024125	2.88E-06			
EN-V1-3	HNRNPA1P8	0.324871936	2.92E-06			
EN-V1-3	RPL6P27	0.257795517	3.11E-06			
EN-V1-3	RP4.706A16.3	0.34831678	3.13E-06			
EN-V1-3	SHOC2	0.626794582	3.29E-06	Adapter molecule	BrainSpLMD|8036;Eurexp|euxassay_004370|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	OMIM|602775;HPO|8036|Anteverted nares, Aplasia/Hypoplasia of the eyebrow, Atrial septal defect, Autosomal dominant inheritance, Deep philtrum, Delayed skeletal maturation, Epicanthus, Hydrocephalus, Hyperactivity, Hypertelorism, Hypertrophic cardiomyopathy, Intellectual disability, Loose anagen hair, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Pectus excavatum, Polyhydramnios, Posteriorly rotated ears, Prominent forehead, Pulmonic stenosis, Short neck, Short nose, Short stature, Sparse scalp hair, Strabismus, Ventricular septal defect, Webbed neck
EN-V1-3	TPI1P1	0.273814522	3.31E-06			
EN-V1-3	RPL37	0.688356295	3.40E-06	Ribosomal subunit		OMIM|604181
EN-V1-3	RP11.499P20.2	0.265116573	3.49E-06			
EN-V1-3	COPG2	0.297773924	3.58E-06	Transport/cargo protein	BrainSpMouseDev|33453	OMIM|604355
EN-V1-3	EBNA1BP2	0.966231117	3.62E-06	Unclassified	BrainSpLMD|10969	OMIM|614443
EN-V1-3	TNPO2	0.556959942	3.79E-06	Transport/cargo protein	BrainSpLMD|30000	OMIM|603002
EN-V1-3	ATP2B2	0.827097846	3.81E-06	ATPase	BrainSpLMD|491;Eurexp|euxassay_012931|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|108733
EN-V1-3	ATP6V1F	0.663801513	3.85E-06	ATPase	BrainSpLMD|9296;Eurexp|euxassay_005209|dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory lobe, spinal cord, trigeminal V, vagus X	OMIM|607160
EN-V1-3	CEP164	0.661203522	3.98E-06	Unclassified	BrainSpLMD|22897	OMIM|614848;HPO|22897|Abnormality of retinal pigmentation, Autosomal recessive inheritance, Global developmental delay, Hypertension, Nephronophthisis, Phenotypic variability, Premature ovarian insufficiency, Progressive visual loss, Retinal degeneration, Retinal dystrophy, Short stature, Stage 5 chronic kidney disease, Visual impairment
EN-V1-3	PFKP	1.451455842	4.14E-06	Enzyme: Phosphotransferase	BrainSpLMD|5214;Eurexp|euxassay_018981|aorta, atrium, axial skeleton, brain, cervical, cervico-thoracic, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, incisor, mantle layer, midgut, molar, neural retina, spinal cord, stomach, thoracic, trigeminal V, vagus X, ventral grey horn, ventricle, vestibulocochlear VIII, vibrissa	OMIM|171840
EN-V1-3	EXOSC6	0.260667962	4.18E-06	Ribonuclease	BrainSpLMD|118460;Eurexp|euxassay_013513|submandibular gland primordium	OMIM|606490
EN-V1-3	MRPL43	0.819541499	4.42E-06	Ribosomal subunit	BrainSpLMD|84545;Eurexp|euxassay_006869|embryo	OMIM|611848
EN-V1-3	ADCY5	1.416601271	4.49E-06	Adenylate cyclase	BrainSpLMD|111	SFARI||Autism, 4 - Minimal evidence;OMIM|600293;HPO|111|Anxiety, Autosomal dominant inheritance, Chorea, Dysarthria, Dyskinesia, Dystonia, Facial myokymia, Gait disturbance, Juvenile onset, Limb hypertonia
EN-V1-3	UQCRC2	0.635859911	4.61E-06	Enzyme: Reductase	BrainSpLMD|7385;Eurexp|euxassay_018923|aorta, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, vibrissa	OMIM|191329;HPO|7385|Autosomal recessive inheritance, Hyperammonemia, Hypoglycemia, Increased serum lactate, Increased serum pyruvate, Metabolic acidosis
EN-V1-3	PTPRF	0.603726037	4.72E-06	Receptor tyrosine phosphatase	BrainSpLMD|5792	OMIM|179590;HPO|5792|Absent nipple, Autosomal recessive inheritance, Broad nasal tip, Small earlobe, Smooth philtrum
EN-V1-3	LLNLF.187D8.1	0.672433709	4.73E-06			
EN-V1-3	BRK1	0.491230883	4.78E-06	Unclassified	BrainSpLMD|55845	OMIM|611183
EN-V1-3	KITLG	0.825641571	5.07E-06	Growth factor	BrainSpLMD|4254;Eurexp|euxassay_003584|dorsal root ganglion, glomeruli, mantle layer, marginal layer, naris, neural retina, olfactory, olfactory cortex, stroma, thymus primordium, trachea, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|17080	OMIM|184745;HPO|4254|Autosomal dominant inheritance, Cafe-au-lait spot, Heterochromia iridis, Hyperkeratosis, Hypopigmented skin patches, Infantile onset, Multiple lentigines, Premature graying of hair, Progressive hyperpigmentation, Sensorineural hearing impairment, White forelock
EN-V1-3	MAN1A2	0.537849115	5.11E-06	Enzyme: Hydrolase	BrainSpLMD|10905	OMIM|604345
EN-V1-3	LINC01114	0.653301313	5.20E-06			
EN-V1-3	ZBTB8A	0.355304726	5.23E-06	Transcription factor	BrainSpLMD|653121	
EN-V1-3	PCMT1	0.745281233	5.26E-06	Enzyme: Methyltransferase	BrainSpLMD|5110	OMIM|176851
EN-V1-3	TMEM50A	0.627881521	5.28E-06	Integral membrane protein		OMIM|605348
EN-V1-3	NEDD8	0.422485579	5.51E-06	Ubiquitin proteasome system protein	BrainSpLMD|4738	OMIM|603171
EN-V1-3	RPAP2	0.474600758	5.58E-06	Unclassified	BrainSpLMD|79871	OMIM|611476
EN-V1-3	NPTN	0.430817275	5.60E-06	Immunoglobulin	BrainSpLMD|27020	OMIM|612820
EN-V1-3	RPS23	0.576689645	5.61E-06	Ribosomal subunit	BrainSpLMD|6228	OMIM|603683;HPO|6228|Abnormality of the pinna, Autistic behavior, Autosomal dominant inheritance, Cleft palate, Conductive hearing impairment, Depressed nasal bridge, Epicanthus, Flat occiput, Generalized hypotonia, High palate, Highly arched eyebrow, Increased number of teeth, Intellectual disability, mild, Long eyelashes, Low-set ears, Microcephaly, Motor delay, Short stature, Single transverse palmar crease, Thick eyebrow
EN-V1-3	GPD1L	1.340498243	5.81E-06	Unclassified	BrainSpLMD|23171;Eurexp|euxassay_012850|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	OMIM|611778;HPO|23171|Autosomal dominant inheritance, First degree atrioventricular block, Right bundle branch block, Syncope, Ventricular fibrillation
EN-V1-3	ESYT2	0.711110636	6.19E-06	Unclassified	BrainSpLMD|57488	OMIM|616691
EN-V1-3	KIF3C	0.673834992	6.54E-06	Motor protein	BrainSpLMD|3797;Eurexp|euxassay_010971|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602845
EN-V1-3	SLC16A7	1.23919732	7.33E-06	Membrane transport protein	Eurexp|euxassay_000705|dorsal root ganglion, facial VII, inferior, stomach, superior, trigeminal V, vagus X, vestibular component	SFARI||Autism, 5 - Hypothesized but untested;OMIM|603654
EN-V1-3	EIF2B3	0.527751487	7.51E-06	Translation regulatory protein	BrainSpLMD|8891	OMIM|606273;HPO|8891|Autosomal recessive inheritance, CNS demyelination, Cerebral hypomyelination, Cessation of head growth, Decreased circulating progesterone, Delusions, Developmental regression, Dysarthria, Emotional lability, Generalized hypotonia, Juvenile onset, Lethargy, Leukoencephalopathy, Macrocephaly, Memory impairment, Optic atrophy, Personality changes, Premature ovarian insufficiency, Primary gonadal insufficiency, Secondary amenorrhea, Seizures, Spasticity, Unsteady gait
EN-V1-3	PSMB5	0.847713857	7.55E-06	Ubiquitin proteasome system protein	BrainSpLMD|5693;Eurexp|euxassay_005692|embryo	OMIM|600306
EN-V1-3	GRM3	0.675085809	7.57E-06	G protein coupled receptor	BrainSpLMD|2913;BrainSpMouseDev|72231	OMIM|601115;COSMIC||melanoma, oral SCC
EN-V1-3	RPL13AP5	0.283638811	7.89E-06			
EN-V1-3	MPC2	0.457038247	8.09E-06	Unclassified	BrainSpLMD|25874	OMIM|614737
EN-V1-3	CDC42BPA	0.54558737	8.20E-06	Serine/threonine kinase	BrainSpLMD|8476	OMIM|603412
EN-V1-3	TPI1	0.427366245	8.39E-06	Enzyme: Isomerase	BrainSpLMD|7167	OMIM|190450;HPO|7167|Abnormality of immune system physiology, Autosomal recessive inheritance, Central nervous system degeneration, Cholecystitis, Cholelithiasis, Chronic hemolytic anemia, Congestive heart failure, Diaphragmatic paralysis, Dystonia, Generalized hypotonia, Global developmental delay, Hemolytic anemia, Hyporeflexia, Jaundice, Kyphosis, Muscular hypotonia, Myopathy, Normochromic anemia, Normocytic anemia, Peripheral neuropathy, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Splenomegaly, Tremor, Unsteady gait
EN-V1-3	NAV1	0.419960326	8.59E-06	Unclassified	BrainSpLMD|89796;Eurexp|euxassay_015115|Meckel's cartilage, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, inferior, mantle layer, midbrain, molar, neural retina, olfactory, respiratory, spinal cord, stroma, superior, thoracic, trigeminal V, turbinate bones, vagus X, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|611628
EN-V1-3	SULT4A1	1.089417272	9.23E-06	Enzyme: Sulphotransferase	BrainSpLMD|25830	OMIM|608359
EN-V1-3	DNM3OS	0.303395706	9.23E-06			
EN-V1-3	C16orf45	0.741655985	9.52E-06	Unclassified	BrainSpLMD|89927;Eurexp|euxassay_002917|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, penis, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
EN-V1-3	ARPC3	0.361013399	9.70E-06	Cytoskeletal associated protein		OMIM|604225
EN-V1-3	DLG1	1.097568479	9.91E-06	Cell junction protein	BrainSpLMD|1739;Eurexp|euxassay_005262|adrenal gland, lung	SFARI||Autism, No category;OMIM|601014
EN-V1-3	MIEN1	0.823203311	9.95E-06	Unclassified	BrainSpLMD|84299;Eurexp|euxassay_001703|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|611802
EN-V1-3	SLC9A6	0.671444148	1.01E-05	Transport/cargo protein	BrainSpLMD|10479;Eurexp|euxassay_012153|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	SFARI||Autism, No category;OMIM|300231;HPO|10479|Abnormality of the foot, Absent speech, Adducted thumb, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Autism, Bowel incontinence, Cachexia, Cerebellar atrophy, Cerebral cortical atrophy, Conspicuously happy disposition, Decreased body weight, Developmental regression, Drooling, Dysphagia, Dystonia, Feeding difficulties in infancy, Flexion contracture, Gait ataxia, Gastroesophageal reflux, Generalized hypotonia, Generalized seizures, Global developmental delay, Happy demeanor, Hyperkinesis, Inappropriate laughter, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Long face, Long nose, Loss of ability to walk in first decade, Macrotia, Mandibular prognathia, Microcephaly, Mutism, Narrow chest, Narrow face, Neuronal loss in central nervous system, Nystagmus, Open mouth, Ophthalmoplegia, Pectus excavatum, Photosensitive tonic-clonic seizures, Severe global developmental delay, Skeletal muscle atrophy, Sleep disturbance, Slender finger, Stereotypy, Strabismus, Thick eyebrow, Truncal ataxia, Urinary incontinence, Ventriculomegaly, X-linked dominant inheritance
EN-V1-3	AC007969.5	0.285791277	1.01E-05			
EN-V1-3	GNPTAB	0.844447843	1.02E-05	Calcium binding protein	BrainSpLMD|79158	OMIM|607840;HPO|79158|Abnormality of nervous system morphology, Abnormality of the rib cage, Abnormality of the thorax, Anteverted nares, Aortic regurgitation, Atlantoaxial dislocation, Autosomal recessive inheritance, Beaking of vertebral bodies T12-L3, Broad ribs, Bullet-shaped phalanges of the hand, Cardiomegaly, Carpal bone hypoplasia, Cavernous hemangioma, Coarse facial features, Congestive heart failure, Constrictive median neuropathy, Corneal erosion, Craniosynostosis, Death in childhood, Deficiency of N-acetylglucosamine-1-phosphotransferase, Depressed nasal bridge, Diastasis recti, Dysostosis multiplex, Epicanthus, Failure to thrive, Flared iliac wings, Flat acetabular roof, Generalized hirsutism, Heart murmur, Hepatomegaly, Hernia, High forehead, Hip dislocation, Hoarse voice, Hyperopic astigmatism, Hypertrophic cardiomyopathy, Hypoplasia of the odontoid process, Hypoplastic scapulae, Increased serum beta-hexosaminidase, Increased serum iduronate sulfatase activity, Inguinal hernia, Intellectual disability, Irregular carpal bones, J-shaped sella turcica, Lack of skin elasticity, Large sella turcica, Long philtrum, Lower thoracic interpediculate narrowness, Macroglossia, Mandibular prognathia, Megalocornea, Metaphyseal widening, Mucopolysacchariduria, Myelopathy, Narrow forehead, Neonatal hypotonia, Opacification of the corneal stroma, Osteopenia, Ovoid vertebral bodies, Palpebral edema, Pathologic fracture, Progressive alveolar ridge hypertropy, Protuberant abdomen, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia, Retinal degeneration, Scoliosis, Severe global developmental delay, Severe postnatal growth retardation, Shallow acetabular fossae, Short long bone, Short ribs, Short stature, Soft tissue swelling of interphalangeal joints, Sparse and thin eyebrow, Specific learning disability, Splenomegaly, Split hand, Talipes equinovarus, Thickened calvaria, Thickened skin, Thin skin, Thoracolumbar kyphoscoliosis, Umbilical hernia, Varus deformity of humeral neck, Wide intermamillary distance
EN-V1-3	RP11.434H6.7	0.379439412	1.04E-05			
EN-V1-3	ATP5C1	0.883979002	1.10E-05			
EN-V1-3	NUDCD1	0.854151512	1.10E-05	Unclassified	BrainSpLMD|84955	OMIM|606109
EN-V1-3	B3GALNT1	0.831553	1.12E-05	Enzyme: Galactosyltransferase	BrainSpLMD|8706;Eurexp|euxassay_003465|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn	OMIM|603094
EN-V1-3	SEH1L	0.29341134	1.14E-05	Unclassified	BrainSpLMD|81929	OMIM|609263
EN-V1-3	SERINC3	0.792631122	1.15E-05	Integral membrane protein	BrainSpLMD|10955;Eurexp|euxassay_004869|dorsal root ganglion, facial VII, glossopharyngeal IX, left, mandible, maxilla, medulla, orbito-sphenoid, right, testis, thymus primordium, trigeminal V	OMIM|607165
EN-V1-3	RP11.452L6.1	0.392132868	1.16E-05			
EN-V1-3	NIT2	0.760084174	1.19E-05	Enzyme: Hydrolase	BrainSpLMD|56954	OMIM|616769
EN-V1-3	LARP1B	0.486794698	1.21E-05	RNA binding protein	BrainSpLMD|55132	
EN-V1-3	NT5DC3	0.916427028	1.25E-05	Unclassified	BrainSpLMD|51559	OMIM|611076
EN-V1-3	RPL9P7	0.639694953	1.33E-05			
EN-V1-3	ZRANB2	0.333725952	1.36E-05	RNA binding protein	BrainSpLMD|9406	OMIM|604347
EN-V1-3	IGSF3	0.361447923	1.41E-05	Integral membrane protein	BrainSpLMD|3321	OMIM|603491;HPO|3321|Autosomal dominant inheritance, Autosomal recessive inheritance, Dacryocystocele, Increased lacrimation, Lacrimal duct atresia
EN-V1-3	RC3H2	0.662825573	1.42E-05	DNA binding protein	BrainSpLMD|54542	OMIM|615231
EN-V1-3	ENO2	1.040013913	1.43E-05	Enzyme: Hydratase	BrainSpLMD|2026;Eurexp|euxassay_018457|dorsal root ganglion, facial VII, mantle layer, trigeminal V, vagus X, ventral grey horn	OMIM|131360
EN-V1-3	BACE1	1.024807476	1.45E-05	Aspartic protease	BrainSpLMD|23621	OMIM|604252
EN-V1-3	TUBB3	0.301805187	1.46E-05	Structural protein	Eurexp|euxassay_015339|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, stroma, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|21909	OMIM|602661;HPO|10381|Agenesis of corpus callosum, Amblyopia, Autosomal dominant inheritance, Compensatory chin elevation, Congenital fibrosis of extraocular muscles, Congenital onset, Cortical dysplasia, Exotropia, Global developmental delay, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, moderate, Levator palpebrae superioris atrophy, Lissencephaly, Microcephaly, Muscular hypotonia of the trunk, Nonprogressive restrictive external ophthalmoplegia, Nystagmus, Phenotypic variability, Polymicrogyria, Ptosis, Spasticity, Strabismus, Superior rectus atrophy, Variable expressivity
EN-V1-3	EIF3CL	0.441605322	1.46E-05			
EN-V1-3	HMGB1P10	0.337202018	1.47E-05			
EN-V1-3	FGF9	0.75797043	1.49E-05	Growth factor	BrainSpLMD|2254;BrainSpMouseDev|13957	OMIM|600921;HPO|2254|Autosomal dominant inheritance, Cubitus valgus, Humeroradial synostosis, Limited interphalangeal movement, Metacarpal synostosis, Metatarsal synostosis
EN-V1-3	MORF4L1P1	0.443224556	1.50E-05			
EN-V1-3	TMEM246	1.168200384	1.52E-05	Unclassified	BrainSpLMD|84302;Eurexp|euxassay_002939|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nucleus pulposus, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	
EN-V1-3	HS3ST1	0.965320336	1.53E-05	Enzyme: Sulphotransferase	BrainSpLMD|9957;Eurexp|euxassay_011898|Meckel's cartilage, femur, fibula, hip, humerus, mantle layer, mesenchyme, metatarsus, rib, scapula, submandibular gland primordium, tibia, ventricular layer	OMIM|603244
EN-V1-3	SFXN3	1.342980822	1.57E-05	Integral membrane protein	BrainSpLMD|81855	OMIM|615571
EN-V1-3	GRB14	1.126806768	1.61E-05	Adapter molecule	BrainSpLMD|2888;Eurexp|euxassay_012213|dorsal root ganglion, mantle layer, nucleus pulposus, trigeminal V	OMIM|601524
EN-V1-3	TNFRSF21	0.706504764	1.63E-05	Cell surface receptor	BrainSpLMD|27242;Eurexp|euxassay_012361|anterior, brain, calyces, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, lip, meninges, mesenchyme, olfactory, pelvis, posterior, right lung, spinal cord, stomach, trigeminal V, ureter, utricle, vagus X, vestibulocochlear VIII	OMIM|605732
EN-V1-3	CACNA1C	0.85173033	1.64E-05	Voltage gated channel	BrainSpLMD|775	SFARI||Autism, No category;OMIM|114205;HPO|775|Atrial fibrillation, Autosomal dominant inheritance, Cutaneous syndactyly, Depressed nasal bridge, Global developmental delay, J wave, Microdontia, Prolonged QT interval, Recurrent infections, Round face, Shortened QT interval, Sudden cardiac death, Sudden death, Syncope, Thin upper lip vermilion, Ventricular arrhythmia
EN-V1-3	TCEAL1	0.674831159	1.68E-05	Transcription regulatory protein	BrainSpLMD|9338;Eurexp|euxassay_006652|skeletal muscle	OMIM|300237
EN-V1-3	EXD3	0.297747187	1.78E-05	Unclassified	BrainSpLMD|54932	
EN-V1-3	RAP2A	0.274118641	1.80E-05	GTPase	BrainSpLMD|5911	OMIM|179540
EN-V1-3	RPLP0P6	0.587351857	1.83E-05			
EN-V1-3	ATP1A1	0.80879517	1.94E-05	ATPase	BrainSpLMD|476;BrainSpMouseDev|11714	OMIM|182310;COSMIC||adrenal aldosterone producing adenoma
EN-V1-3	NELL1	0.575997402	1.94E-05	Enzyme: Oxidoreductase	BrainSpLMD|4745	SFARI||Autism, No category;OMIM|602319
EN-V1-3	NIPSNAP3B	1.008308375	1.95E-05	Transport/cargo protein	BrainSpLMD|55335	OMIM|608872
EN-V1-3	DDX24	0.620941796	1.96E-05	Transport/cargo protein	BrainSpLMD|57062	OMIM|606181
EN-V1-3	FAM19A2	1.365703954	2.06E-05	Secreted polypeptide	BrainSpLMD|338811	OMIM|617496
EN-V1-3	RNF220	0.873597616	2.14E-05	Unclassified	BrainSpLMD|55182;Eurexp|euxassay_007486|mantle layer, marginal layer	OMIM|616136
EN-V1-3	CSDE1	0.396157641	2.20E-05	RNA binding protein	BrainSpLMD|7812	OMIM|191510
EN-V1-3	RPL10A	0.287241342	2.21E-05	Ribosomal subunit		OMIM|615660
EN-V1-3	MYO9A	0.367719163	2.32E-05	Motor protein	BrainSpLMD|4649	OMIM|604875
EN-V1-3	POLR2L	0.373996986	2.41E-05	RNA polymerase	BrainSpLMD|5441;Eurexp|euxassay_019574|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, liver, lung, midgut, nucleus pulposus, oesophagus, pancreas, stomach, submandibular gland primordium, testis, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|601189
EN-V1-3	EXOSC5	0.847159459	2.43E-05	Ribonuclease	BrainSpLMD|56915	OMIM|606492
EN-V1-3	VPS28	0.918021362	2.43E-05	Transport/cargo protein	BrainSpLMD|51160	OMIM|611952
EN-V1-3	VHL	0.403862126	2.53E-05	Ubiquitin proteasome system protein	BrainSpLMD|7428	OMIM|608537;COSMIC||renal, haemangioma, pheochromocytoma, renal, haemangioma, pheochromocytoma;HPO|7428|Abnormality of the cerebral vasculature, Abnormality of the liver, Abnormality of the retinal vasculature, Aplasia/Hypoplasia of the cerebellum, Arteriovenous malformation, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cafe-au-lait spot, Capillary hemangiomas, Cerebellar hemangioblastoma, Cerebral hemorrhage, Congenital cataract, Congestive heart failure, Elevated urinary norepinephrine, Epididymal cyst, Episodic hypertension, Fatigue, Gait disturbance, Headache, Hemangioma, Hemiplegia/hemiparesis, Hydrocephalus, Hypercalcemia, Hyperhidrosis, Hypertension, Hypertensive retinopathy, Hypotension, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass, Migraine, Multicystic kidney dysplasia, Multiple renal cysts, Nausea and vomiting, Neoplasm, Neoplasm of the pancreas, Neurological speech impairment, Nystagmus, Pancreatic cysts, Papillary cystadenoma of the epididymis, Paraganglioma, Peripheral thrombosis, Phenotypic variability, Pheochromocytoma, Plethora, Polycystic kidney dysplasia, Polycythemia, Positive regitine blocking test, Proteinuria, Pulmonary capillary hemangiomatosis, Renal artery stenosis, Renal cell carcinoma, Retinal capillary hemangioma, Sensorineural hearing impairment, Sensory neuropathy, Spinal hemangioblastoma, Sporadic, Stroke, Tachycardia, Telangiectasia of the skin, Tinnitus, Varicose veins, Vertigo, Visceral angiomatosis, Visual impairment
EN-V1-3	PDIK1L	0.887481968	2.54E-05	Serine/threonine kinase	BrainSpLMD|149420	OMIM|610785
EN-V1-3	RAC1	0.279874683	2.54E-05	GTPase	BrainSpLMD|5879;BrainSpMouseDev|19116	OMIM|602048;COSMIC||melanoma, carcinoma
EN-V1-3	BHLHB9	0.328970296	2.55E-05	Transcription regulatory protein	BrainSpLMD|80823;Eurexp|euxassay_012088|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, brain, dorsal root ganglion, exoccipital bone, facial VII, fibula, glossopharyngeal IX, humerus, neural retina, orbito-sphenoid, otic capsule, pelvic girdle, rib, scapula, spinal cord, submandibular gland primordium, temporal bone, tibia, trigeminal V, turbinate, vagus X	OMIM|300921
EN-V1-3	AP3B2	1.167436542	2.72E-05	Transport/cargo protein	BrainSpLMD|8120;Eurexp|euxassay_014714|adrenal gland, brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, testis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|602166;HPO|8120|Absent speech, Autosomal recessive inheritance, Dyskinesia, Epileptic encephalopathy, Generalized hypotonia, Global developmental delay, Poor eye contact, Rod-cone dystrophy
EN-V1-3	RSRP1	0.725504052	2.73E-05	Unclassified	BrainSpLMD|57035	
EN-V1-3	SCAPER	0.461004582	2.73E-05	DNA binding protein	BrainSpLMD|49855	OMIM|611611
EN-V1-3	PIAS2	0.49188012	2.74E-05	Transcription regulatory protein	BrainSpLMD|9063	OMIM|603567
EN-V1-3	BAIAP2	0.505112839	2.76E-05	Adapter molecule	BrainSpLMD|10458;Eurexp|euxassay_002713|marginal layer	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605475
EN-V1-3	KRAS	0.376282659	2.77E-05	GTPase	BrainSpLMD|3845	OMIM|190070;COSMIC||pancreatic, colorectal, lung, thyroid, AML, other tumour types;HPO|3845|Abdominal pain, Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of cardiovascular system morphology, Abnormality of coagulation, Abnormality of dental color, Abnormality of dental morphology, Abnormality of finger, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Abnormality of the spleen, Abnormality of the ulna, Abnormality of the ureter, Abnormality of toe, Abnormality of vision, Absent eyebrow, Absent septum pellucidum, Acute myeloid leukemia, Adenoma sebaceum, Aganglionic megacolon, Agenesis of corpus callosum, Alopecia, Alveolar cell carcinoma, Anteverted nares, Anxiety, Aphasia, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the skin, Arrhythmia, Asymmetric growth, Atrial septal defect, Atrial septal dilatation, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Basal cell carcinoma, Biparietal narrowing, Blepharophimosis, Bone cyst, Brachydactyly, Breast carcinoma, Brittle hair, Broad forehead, Capillary hemangiomas, Cavernous hemangioma, Cerebral calcification, Cerebral cortical atrophy, Chronic atrophic gastritis, Coarctation of aorta, Coarse facial features, Coarse hair, Coloboma, Colon cancer, Constipation, Corneal opacity, Cranial asymmetry, Craniofacial hyperostosis, Cryptorchidism, Curly hair, Cystic hygroma, Death in early adulthood, Death in infancy, Deep palmar crease, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Downslanted palpebral fissures, Dry skin, Dysarthria, Dysphasia, Dystrophic fingernails, EEG abnormality, Echolalia, Enlarged thorax, Epibulbar dermoid, Epicanthus, Excessive wrinkled skin, Facial asymmetry, Failure to thrive, Failure to thrive in infancy, Fatigue, Feeding difficulties, Feeding difficulties in infancy, Fine hair, Frontal bossing, Full cheeks, Gastrointestinal hemorrhage, Generalized hyperpigmentation, Genu recurvatum, Glioblastoma, Global developmental delay, Growth delay, Hearing impairment, Hemangioma, Hemimegalencephaly, Hepatomegaly, Heterogeneous, High forehead, High palate, Horseshoe kidney, Hyperextensible skin, Hyperreflexia, Hypertelorism, Hypertonia, Hypogonadotrophic hypogonadism, Hypophosphatemic rickets, Hypopigmentation of the skin, Hypoplasia of the zygomatic bone, Ichthyosis, Increased intracranial pressure, Intellectual disability, Iris coloboma, Irregular hyperpigmentation, Irritability, Joint hyperflexibility, Juvenile myelomonocytic leukemia, Kyphoscoliosis, Laryngeal hypoplasia, Lipodystrophy, Long face, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Malabsorption, Melanocytic nevus, Micrognathia, Microphthalmia, Midface retrusion, Migraine, Mitral valve prolapse, Multiple cafe-au-lait spots, Multiple lentigines, Multiple lipomas, Muscle stiffness, Muscle weakness, Muscular hypotonia, Mutism, Myopia, Nausea and vomiting, Neoplasm of the pancreas, Neoplasm of the rectum, Neoplasm of the skeletal system, Nevus flammeus, Nevus sebaceous, Nystagmus, Osteolysis, Osteopenia, Overgrowth, Palmoplantar keratoderma, Pectus carinatum, Pectus excavatum, Peripheral axonal neuropathy, Plagiocephaly, Polyhydramnios, Porencephalic cyst, Posteriorly rotated ears, Premature birth, Prominent occiput, Proptosis, Ptosis, Pulmonary arterial hypertension, Pulmonary artery stenosis, Pulmonic stenosis, Recurrent fractures, Reduced tendon reflexes, Retinopathy, Rigidity, Sagittal craniosynostosis, Scoliosis, Seizures, Short neck, Short nose, Short palm, Short palpebral fissure, Short stature, Slow-growing hair, Somatic mosaicism, Somatic mutation, Sparse hair, Sparse or absent eyelashes, Spasticity, Sporadic, Stomach cancer, Strabismus, Subcortical cerebral atrophy, Subcutaneous nodule, Telecanthus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Transitional cell carcinoma of the bladder, Triangular face, Tricuspid valve prolapse, Underdeveloped supraorbital ridges, Ventricular septal defect, Ventriculomegaly, Vertebral segmentation defect, Visceral angiomatosis, Webbed neck, Weight loss, Wide intermamillary distance, Xanthomatosis
EN-V1-3	COMMD3	0.43371785	2.84E-05	Unclassified	BrainSpLMD|23412;Eurexp|euxassay_003440|pancreas, submandibular gland primordium	OMIM|616700
EN-V1-3	TMEM35	0.784954445	2.85E-05			
EN-V1-3	HNRNPA1	0.298511306	2.86E-05	RNA binding protein	BrainSpLMD|3178	OMIM|164017;HPO|3178|Abnormality of the abdominal musculature, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dyspnea, Elevated alkaline phosphatase, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Limb-girdle muscular dystrophy, Mildly elevated creatine phosphokinase, Muscle cramps, Muscle fiber inclusion bodies, Muscular dystrophy, Myopathy, Neurodegeneration, Pain, Paralysis, Proximal muscle weakness, Respiratory failure, Rimmed vacuoles, Skeletal muscle atrophy, Spasticity, Xerostomia
EN-V1-3	RPL29	0.499543714	2.98E-05	Ribosomal subunit		OMIM|601832
EN-V1-3	C11orf73	0.491603174	3.00E-05			
EN-V1-3	VAT1	0.5345733	3.01E-05	Transport/cargo protein	BrainSpLMD|10493;BrainSpMouseDev|26694	OMIM|604631
EN-V1-3	SDC3	0.97390389	3.01E-05	Cell surface receptor	BrainSpLMD|9672	OMIM|186357
EN-V1-3	GSTA4	0.487525569	3.03E-05	Enzyme: Glutathione transferase	BrainSpLMD|2941	OMIM|605450
EN-V1-3	VDAC2	0.256341026	3.03E-05	Voltage gated channel	BrainSpLMD|7417	OMIM|193245
EN-V1-3	USP7	0.386515177	3.06E-05	Ubiquitin proteasome system protein	BrainSpLMD|7874	SFARI||Autism, 2 - Strong candidate;OMIM|602519
EN-V1-3	RAE1	1.018880798	3.19E-05	RNA binding protein	BrainSpLMD|8480	OMIM|603343
EN-V1-3	UBL3	0.392542322	3.23E-05	Ubiquitin proteasome system protein	BrainSpLMD|5412	OMIM|604711
EN-V1-3	ADAM22	0.556156444	3.26E-05	Metallo protease	BrainSpLMD|53616	OMIM|603709
EN-V1-3	CAPZA2	0.311525827	3.69E-05	Cytoskeletal protein	BrainSpLMD|830;Eurexp|euxassay_017154|basal plate, dorsal root ganglion, glossopharyngeal IX, submandibular gland primordium, thymus primordium, trigeminal V, ventral grey horn, vibrissa	OMIM|601571
EN-V1-3	INSR	0.375266546	3.79E-05	Receptor tyrosine kinase	BrainSpLMD|3643;Eurexp|euxassay_011041|adrenal gland;BrainSpMouseDev|16110	OMIM|147670;HPO|3643|Abdominal distention, Abnormal C-peptide level, Abnormal facial shape, Abnormality of the abdominal wall, Abnormality of the thyroid gland, Acanthosis nigricans, Accelerated skeletal maturation, Adipose tissue loss, Advanced eruption of teeth, Autosomal dominant inheritance, Autosomal recessive inheritance, Brachydactyly, Cachexia, Cholestasis, Clitoral hypertrophy, Coarse facial features, Coarse hair, Cognitive impairment, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Diabetes mellitus, Diabetic ketoacidosis, Dry skin, Elfin facies, Fasting hyperinsulinemia, Fasting hypoglycemia, Fatigue, Feeding difficulties in infancy, Female pseudohermaphroditism, Generalized hirsutism, Generalized hyperpigmentation, Gingival overgrowth, Global developmental delay, Growth hormone excess, Gynecomastia, Hearing abnormality, Hepatic fibrosis, Heterogeneous, High palate, High, narrow palate, Hyperglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hyperkeratosis, Hypermelanotic macule, Hypertelorism, Hypertrichosis, Hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Inguinal hernia, Insulin-resistant diabetes mellitus, Intrauterine growth retardation, Large hands, Lipoatrophy, Long foot, Long penis, Low-set ears, Low-set, posteriorly rotated ears, Macrotia, Mandibular prognathia, Nail dysplasia, Onychauxis, Ovarian cyst, Pancreatic islet-cell hyperplasia, Peripheral neuropathy, Postnatal growth retardation, Postprandial hyperglycemia, Precocious puberty, Prematurely aged appearance, Prominent nipples, Proptosis, Proteinuria, Recurrent hypoglycemia, Recurrent infections, Recurrent respiratory infections, Seizures, Severe failure to thrive, Short stature, Skeletal muscle atrophy, Small face, Small for gestational age, Subcutaneous nodule, Thick lower lip vermilion, Thick nail, Thick nasal alae, Thickened nuchal skin fold, Type II diabetes mellitus, Umbilical hernia, Wide mouth
EN-V1-3	RP1.78O14.1	0.646122649	3.87E-05			
EN-V1-3	TERF2	0.615204141	3.89E-05	DNA binding protein	BrainSpLMD|7014	SFARI||Autism, 3 - Suggestive evidence;OMIM|602027
EN-V1-3	PVRL3	0.771772921	3.94E-05			
EN-V1-3	RP11.889L3.1	0.405028983	4.08E-05			
EN-V1-3	PPA1	0.372003255	4.19E-05	Enzyme: Phosphohydrolase	BrainSpLMD|5464;Eurexp|euxassay_004470|bladder, cranium, forelimb, hindlimb, incisor, lung, mandible, maxilla, mesenchyme, metanephros, midgut, nasal septum, olfactory, orbito-sphenoid, palatal shelf, pancreas, respiratory, submandibular gland primordium, tail, turbinate bones, vibrissa	OMIM|179030
EN-V1-3	HNRNPA1P7	0.419368418	4.45E-05			
EN-V1-3	CCDC167	0.712351654	4.49E-05	Unclassified		
EN-V1-3	CUEDC2	0.514556334	4.68E-05	Ubiquitin proteasome system protein	BrainSpLMD|79004	OMIM|614142
EN-V1-3	RP5.857K21.7	0.805120209	4.74E-05			
EN-V1-3	HEATR5B	0.878163621	4.94E-05	Unclassified		
EN-V1-3	PMM1	1.040775407	5.03E-05	Enzyme: Mutase	BrainSpLMD|5372;Eurexp|euxassay_011907|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X	OMIM|601786
EN-V1-3	PUS7L	0.419679981	5.03E-05	Unclassified	BrainSpLMD|83448;Eurexp|euxassay_001354|incisor, lung, ventricle	
EN-V1-3	ETV6	0.444771276	5.07E-05	Transcription factor	BrainSpLMD|2120;Eurexp|euxassay_012303|incisor, molar, olfactory, parotid, submandibular gland primordium, thymus primordium, thyroid;BrainSpMouseDev|13788	OMIM|600618;COSMIC||congenital fibrosarcoma, multiple different leukaemia and lymphoma tumour types including ALL, secretory breast, MDS;HPO|2120|Autosomal dominant inheritance, Bruising susceptibility, Epistaxis, Petechiae, Thrombocytopenia
EN-V1-3	WDR13	0.73980444	5.10E-05	Transcription regulatory protein	BrainSpLMD|64743	OMIM|300512
EN-V1-3	CLPP	0.845212153	5.13E-05	Protease	BrainSpLMD|8192	OMIM|601119;HPO|8192|Autosomal recessive inheritance, Congenital sensorineural hearing impairment, Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Microcephaly, Primary amenorrhea, Sensorineural hearing impairment
EN-V1-3	ABHD14A	1.425211367	5.17E-05	Enzyme: Hydrolase	BrainSpLMD|25864	
EN-V1-3	OSBPL1A	1.210574565	5.20E-05	Transport/cargo protein	BrainSpLMD|114876	OMIM|606730
EN-V1-3	RP11.673C5.1	0.387907302	5.39E-05			
EN-V1-3	SH3BGRL3	0.432407137	5.45E-05	Unclassified	BrainSpLMD|83442;Eurexp|euxassay_003517|basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, thymus primordium, trigeminal V, vagus X, ventral grey horn	OMIM|615679
EN-V1-3	DKK3	1.228555692	5.67E-05	Ligand	BrainSpLMD|27122;Eurexp|euxassay_018106|aorta, axial skeleton, femur, humerus, mesenchyme, neural retina, rib, ventricular layer;BrainSpMouseDev|30269	OMIM|605416
EN-V1-3	ATP5B	0.501591229	6.00E-05			
EN-V1-3	HAX1	1.007727272	6.05E-05	Unclassified	BrainSpLMD|10456	OMIM|605998;HPO|10456|Autosomal recessive inheritance, Infantile onset, Leukemia, Myelodysplasia, Neutropenia, Recurrent bacterial infections
EN-V1-3	NOL4	0.531754351	6.08E-05	Unclassified	BrainSpLMD|8715;Eurexp|euxassay_008266|brain, neural retina, olfactory, spinal cord	OMIM|603577
EN-V1-3	CNTNAP3B	1.368817493	6.16E-05			
EN-V1-3	WNK3	0.421719511	6.17E-05	Serine/threonine kinase	BrainSpLMD|65267	SFARI||Autism, 4 - Minimal evidence;OMIM|300358
EN-V1-3	LDHB	0.38861211	6.43E-05	Enzyme: Dehydrogenase	BrainSpLMD|3945	OMIM|150100
EN-V1-3	MAGI2	0.416514609	6.57E-05	Unclassified	BrainSpLMD|9863	OMIM|606382
EN-V1-3	HOMER1	0.476039325	6.63E-05	Adapter molecule	BrainSpLMD|9456;BrainSpMouseDev|26303	SFARI||Autism, 4 - Minimal evidence;OMIM|604798
EN-V1-3	MRFAP1L1	0.560938935	6.65E-05	Unclassified	BrainSpLMD|114932	
EN-V1-3	C6orf48	0.287863776	6.78E-05	Unclassified	BrainSpLMD|50854	OMIM|605447
EN-V1-3	CBWD5	0.423657885	6.88E-05	Unclassified		
EN-V1-3	BZW1	0.251286294	7.00E-05	Transcription factor	BrainSpLMD|9689	
EN-V1-3	HNRNPA1P48	0.266552102	7.16E-05			
EN-V1-3	ERGIC3	0.312658756	7.31E-05	Unclassified	BrainSpLMD|51614	OMIM|616971
EN-V1-3	SKP1	0.37560824	7.60E-05	Ubiquitin proteasome system protein	BrainSpLMD|6500	OMIM|601434
EN-V1-3	STRBP	0.43578514	7.64E-05	RNA binding protein	BrainSpLMD|55342;Eurexp|euxassay_012970|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|611138
EN-V1-3	DTX4	0.845107174	7.66E-05	Ubiquitin proteasome system protein	Eurexp|euxassay_015898|floor plate, floorplate, ventricular layer;BrainSpMouseDev|83873	OMIM|616110
EN-V1-3	GMFB	0.30795218	7.82E-05	Growth factor	BrainSpLMD|2764	OMIM|601713
EN-V1-3	CHCHD6	0.909972095	8.15E-05	Unclassified	BrainSpLMD|84303	OMIM|615634
EN-V1-3	NDUFB11	0.347891906	8.47E-05	Enzyme: Oxidoreductase	BrainSpLMD|54539	OMIM|300403;HPO|54539|Abnormal facial shape, Abnormality of retinal pigmentation, Abnormality of the cardiac septa, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Agenesis of corpus callosum, Anophthalmia, Arrhythmia, Cardiac arrest, Congenital diaphragmatic hernia, Dermal atrophy, Dilated cardiomyopathy, Dilation of lateral ventricles, Erythema, Failure to thrive, Hyperpigmentation of the skin, Hypertrophic cardiomyopathy, Hypopigmented skin patches, Lacrimal duct atresia, Mandibular aplasia, Micrognathia, Microphthalmia, Midface retrusion, Muscular hypotonia of the trunk, Myopia, Nystagmus, Retrognathia, Sclerocornea, Seizures, Severe short stature, Strabismus, Ventricular fibrillation, Ventricular tachycardia, Vitritis, Wide nasal bridge, Wide nose, X-linked dominant inheritance
EN-V1-3	ARL10	0.716300271	9.19E-05	GTPase	BrainSpLMD|285598;BrainSpMouseDev|36074	
EN-V1-3	THBS1	0.325890626	9.44E-05	Extracellular matrix protein	BrainSpLMD|7057;Eurexp|euxassay_005711|axial skeleton, clavicle, cranium, footplate, handplate, left lung, lip, liver, mesenchyme, naris, rest of mesenchyme, right lung, sternum, turbinate bones	SFARI||Autism, No category;OMIM|188060
EN-V1-3	UQCR10	0.304568252	9.47E-05	Enzyme: Oxidoreductase	BrainSpLMD|29796;Eurexp|euxassay_001948|Meckel's cartilage, adrenal gland, cortex, dorsal root ganglion, foregut-midgut junction, frontal bone primordium, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, ventral grey horn, vertebral axis muscle system, vibrissa	OMIM|610843
EN-V1-3	LCMT1	1.269386957	9.49E-05	Enzyme: Methyltransferase	BrainSpLMD|51451;Eurexp|euxassay_010513|mantle layer	OMIM|610286
EN-V1-3	COA3	0.754957741	9.69E-05	Unclassified	BrainSpLMD|28958	OMIM|614775
EN-V1-3	TMEM14B	0.34140072	9.73E-05	Integral membrane protein	BrainSpLMD|81853	
EN-V1-3	SAV1	0.86003514	9.88E-05	Transcription regulatory protein	BrainSpLMD|60485	OMIM|607203
EN-V1-3	NCOA7	0.548948493	0.000104028	Transcription regulatory protein	BrainSpLMD|135112	OMIM|609752
EN-V1-3	VDAC1	0.717454936	0.000107325	Voltage gated channel	BrainSpLMD|7416	OMIM|604492
EN-V1-3	VTA1	0.380551736	0.000110252	Unclassified	BrainSpLMD|51534	OMIM|610902
EN-V1-3	SLIT1	0.45859821	0.000112221	Ligand	BrainSpLMD|6585;BrainSpMouseDev|20324	OMIM|603742
EN-V1-3	PSMB4	0.513705139	0.000118822	Ubiquitin proteasome system protein	BrainSpLMD|5692	OMIM|602177
EN-V1-3	RPL7A	0.494203403	0.000120771	Ribosomal subunit	Eurexp|euxassay_005917|embryo	OMIM|185640
EN-V1-3	ZNF382	0.547417741	0.000122117	Transcription regulatory protein	BrainSpLMD|84911	OMIM|609516
EN-V1-3	ARG2	1.251928943	0.000126601	Enzyme: Hydrolase	BrainSpLMD|384;Eurexp|euxassay_018868|cortex, vibrissa	OMIM|107830
EN-V1-3	ANKRD27	1.136131551	0.000126684	Unclassified	BrainSpLMD|84079	
EN-V1-3	CTD.2192J16.15	0.363767411	0.000127655			
EN-V1-3	FTO	0.352515849	0.000128397	Unclassified	BrainSpLMD|79068	OMIM|610966;HPO|79068|Anteverted nares, Autosomal recessive inheritance, Bifid uvula, Brachydactyly, Cleft palate, Coarse facial features, Cryptorchidism, Cutis marmorata, Dandy-Walker malformation, Failure to thrive, Global developmental delay, Hydrocephalus, Hypertonia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Lissencephaly, Macroglossia, Microcephaly, Obesity, Patent ductus arteriosus, Protruding tongue, Retrognathia, Seizures, Sensorineural hearing impairment, Short neck, Skull asymmetry, Small nail, Umbilical hernia, Ventricular septal defect
EN-V1-3	ZBTB8B	0.404156467	0.000129933			
EN-V1-3	ACACA	0.747064929	0.000130126	Enzyme: Carboxylase	BrainSpLMD|31;Eurexp|euxassay_018925|axial muscle, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mantle layer, midgut, neural retina, oesophagus, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|200350;HPO|31|Autosomal recessive inheritance, Generalized hypotonia, Growth delay, Myopathy
EN-V1-3	FAM126A	0.316851981	0.000132297	Unclassified	BrainSpLMD|84668;Eurexp|euxassay_013806|olfactory, ventricular layer	OMIM|610531;HPO|84668|Abnormal pyramidal signs, Abnormality of the cerebellum, Autosomal recessive inheritance, Babinski sign, Cerebral hypomyelination, Cerebral white matter atrophy, Congenital cataract, Decreased motor nerve conduction velocity, Dysarthria, Global developmental delay, Hyperreflexia, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intention tremor, Leukodystrophy, Loss of ability to walk, Lower limb amyotrophy, Lower limb muscle weakness, Motor delay, Muscular hypotonia of the trunk, Polyneuropathy, Scoliosis, Seizures, Truncal titubation, Variable expressivity
EN-V1-3	RIMS2	0.309810212	0.000132417	Unclassified	BrainSpLMD|9699	OMIM|606630
EN-V1-3	PRDX5	0.793655539	0.000134376	Enzyme: Oxidoreductase	BrainSpLMD|25824	OMIM|606583
EN-V1-3	OBSL1	1.529177542	0.000142498	Cytoskeletal protein	BrainSpLMD|23363	OMIM|610991;HPO|23363|Abnormality of dental enamel, Abnormality of the elbow, Abnormality of the metaphysis, Anteverted nares, Autosomal recessive inheritance, Broad forehead, Bulbous nose, Delayed eruption of teeth, Delayed skeletal maturation, Dolichocephaly, Enlarged thorax, Everted lower lip vermilion, Frontal bossing, Horizontal ribs, Hyperlordosis, Hypoplasia of the ulna, Hypoplastic ischia, Hypoplastic pelvis, Hypoplastic pubic bone, Increased vertebral height, Intrauterine growth retardation, Joint hyperflexibility, Long philtrum, Malar flattening, Micromelia, Midface retrusion, Pointed chin, Prominent nasal tip, Protruding ear, Rocker bottom foot, Scapular winging, Short neck, Short stature, Short thorax, Slender long bone, Thick eyebrow, Thin ribs, Triangular face
EN-V1-3	FARP1	0.552919098	0.000143946	Guanine nucleotide exchange factor	BrainSpLMD|10160	OMIM|602654
EN-V1-3	NPDC1	1.111079364	0.000147458	Unclassified	BrainSpLMD|56654;Eurexp|euxassay_002723|axial skeleton, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, stroma, trigeminal V, vestibulocochlear VIII	OMIM|605798
EN-V1-3	AC004076.5	1.412328855	0.000150144			
EN-V1-3	RABEPK	0.593793262	0.00015325	Transport/cargo protein	BrainSpLMD|10244	OMIM|605962
EN-V1-3	RP11.421N8.1	0.300061661	0.000155612			
EN-V1-3	FBXO32	0.312613054	0.000155795	Ubiquitin proteasome system protein	BrainSpLMD|114907;Eurexp|euxassay_009279|atrium, cochlea, cochlear duct, intermediate grey horn, lip, mesenchyme, oesophagus, olfactory, sublingual gland primordium, ventricular layer, vomeronasal organ	OMIM|606604
EN-V1-3	FAM102B	0.295951445	0.000158105	Unclassified	Eurexp|euxassay_007966|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	
EN-V1-3	ATL1	0.984335917	0.000158473	GTPase	BrainSpLMD|51062	OMIM|606439;HPO|51062|Adult onset, Autoamputation, Autosomal dominant inheritance, Babinski sign, Degeneration of the lateral corticospinal tracts, Distal amyotrophy, Distal lower limb amyotrophy, Distal sensory impairment, Distal sensory loss of all modalities, Heterogeneous, Hyperreflexia, Impaired vibration sensation in the lower limbs, Incomplete penetrance, Insidious onset, Lower limb muscle weakness, Motor delay, Nail dysplasia, Nail dystrophy, Paraplegia, Paresthesia, Peripheral axonal neuropathy, Pes cavus, Progressive, Scoliosis, Spastic gait, Spastic paraplegia, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency, Variable expressivity
EN-V1-3	ANKRD12	0.357503381	0.000161701	Unclassified	BrainSpLMD|23253	OMIM|610616
EN-V1-3	TSC22D1	0.285233611	0.00016357	Transcription regulatory protein	BrainSpLMD|8848;BrainSpMouseDev|21566	OMIM|607715
EN-V1-3	ARPC2	0.440263301	0.000174532	Cytoskeletal associated protein	BrainSpLMD|10109	OMIM|604224
EN-V1-3	TM2D3	0.525893903	0.000175163	Integral membrane protein	BrainSpLMD|80213	OMIM|610014
EN-V1-3	STAG3L4	1.080555664	0.000178429	Unclassified	BrainSpLMD|64940	
EN-V1-3	FAM217B	0.661893418	0.000179143	Unclassified	BrainSpLMD|63939	
EN-V1-3	TNPO1	0.434532122	0.000190595	Transport/cargo protein	BrainSpLMD|3842	OMIM|602901
EN-V1-3	PDZD2	0.338319822	0.00019102	Unclassified	BrainSpLMD|23037;BrainSpMouseDev|43913	OMIM|610697
EN-V1-3	AP1M1	0.500130904	0.000194619	Adapter molecule	BrainSpLMD|8907	OMIM|603535
EN-V1-3	MYCN	0.769057134	0.000194925	Transcription factor	BrainSpLMD|4613;Eurexp|euxassay_018746|hindgut, incisor, lung, mantle layer, marginal layer, metanephros, midgut, molar, neural retina, stomach, trigeminal V, urethra, ventricular layer, vibrissa;BrainSpMouseDev|17876	OMIM|164840;COSMIC||neuroblastoma;HPO|4613|Accessory spleen, Annular pancreas, Anteverted nares, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Asplenia, Autosomal dominant inheritance, Blepharophimosis, Decreased fetal movement, Depressed nasal tip, Duodenal atresia, Elevated urinary catecholamines, Epicanthus, Esophageal atresia, Everted lower lip vermilion, Facial asymmetry, Hearing impairment, High palate, Intellectual disability, Low-set ears, Microcephaly, Micrognathia, Neoplasm of the nervous system, Patent ductus arteriosus, Polyhydramnios, Polysplenia, Posteriorly rotated ears, Prominent occiput, Short palpebral fissure, Short toe, Small anterior fontanelle, Specific learning disability, Thick vermilion border, Tracheoesophageal fistula, Triangular face, Upslanted palpebral fissure, Vocal cord paralysis, Wide nasal bridge
EN-V1-3	ERI3	1.177182069	0.000198199	Unclassified	BrainSpLMD|79033	OMIM|609917
EN-V1-3	ACSL3	0.600793932	0.000208701	Enzyme: Ligase	BrainSpLMD|2181;Eurexp|euxassay_006620|embryo	OMIM|602371;COSMIC||prostate
EN-V1-3	NAGK	0.325047182	0.000209359	Enzyme: Phosphotransferase	BrainSpLMD|55577	OMIM|606828
EN-V1-3	CACNB2	0.703652997	0.000217235	Voltage gated channel	BrainSpLMD|783;Eurexp|euxassay_008283|epithalamus, marginal layer, ventricular layer	SFARI||Autism, 3 - Suggestive evidence;OMIM|600003;HPO|783|Atrial fibrillation, Autosomal dominant inheritance, Shortened QT interval, Syncope
EN-V1-3	PSMC5	0.895372174	0.000220137	Ubiquitin proteasome system protein	BrainSpLMD|5705	OMIM|601681
EN-V1-3	AGPAT3	1.605105789	0.000227954	Enzyme: Acyltransferase	BrainSpLMD|56894	OMIM|614794
EN-V1-3	SNAP91	0.40935107	0.000228698	Adapter molecule	BrainSpLMD|9892;Eurexp|euxassay_000563|atrium, calyces, cervical, cervico-thoracic, choroid plexus, dorsal root ganglion, extraembryonic component, facial VII, foregut-midgut junction, glossopharyngeal IX, heart, hindgut, hindlimb, limb, mantle layer, marginal layer, mesenchyme, midgut, neural retina, olfactory, stomach, stroma, thoracic, trigeminal V, urethra, vagus X, ventricle, vertebral axis muscle system, vestibulocochlear VIII	OMIM|607923
EN-V1-3	EDF1	0.704969646	0.000228729	Transcription regulatory protein	BrainSpLMD|8721	OMIM|605107
EN-V1-3	KIAA0930	0.38069017	0.000229109	Unclassified	BrainSpLMD|23313;Eurexp|euxassay_013414|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	
EN-V1-3	CLCN4	1.060949646	0.000230437	Voltage gated channel	BrainSpLMD|1183	OMIM|302910;HPO|1183|Coarse facial features, Generalized hypotonia, Global developmental delay, Intellectual disability, Intellectual disability, mild, X-linked recessive inheritance
EN-V1-3	LPHN1	0.775842059	0.000230605			
EN-V1-3	AGL	0.551209568	0.00023077	Enzyme: Glucosidase	BrainSpLMD|178;Eurexp|euxassay_013482|dorsal root ganglion, facial VII, glossopharyngeal IX, skeletal muscle, trigeminal V, ventral grey horn, vertebral axis muscle system	OMIM|610860;HPO|178|Autosomal recessive inheritance, Broad nasal tip, Cardiomyopathy, Deeply set eye, Depressed nasal bridge, Distal amyotrophy, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Full cheeks, Hepatic fibrosis, Hepatomegaly, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Immunodeficiency, Intellectual disability, mild, Malar flattening, Midface retrusion, Muscle weakness, Myopathy, Short stature, Thin upper lip vermilion, Ventricular hypertrophy
EN-V1-3	NXPE3	1.220626992	0.000231033	Unclassified	BrainSpLMD|91775	
EN-V1-3	SLK	0.458263891	0.000232053	Serine/threonine kinase	BrainSpLMD|9748;Eurexp|euxassay_012162|facial VII, midgut, molar, oesophagus, oral epithelium, rectum, stomach, thymus primordium, thyroid	OMIM|616563
EN-V1-3	KBTBD6	0.775558042	0.000233927	Unclassified	BrainSpLMD|89890	OMIM|617738
EN-V1-3	RRAGB	0.712652082	0.000236551	Guanine nucleotide exchange factor	BrainSpLMD|10325	OMIM|300725
EN-V1-3	LPPR2	0.913446093	0.000239995			
EN-V1-3	RNF19A	0.551294126	0.0002419	Ubiquitin proteasome system protein	BrainSpLMD|25897	OMIM|607119
EN-V1-3	NHP2	0.366099704	0.000243289	Ribonucleoprotein	Eurexp|euxassay_002168|axial muscle, orbito-sphenoid	OMIM|606470;HPO|55651|Abnormal blistering of the skin, Abnormality of coagulation, Abnormality of female internal genitalia, Abnormality of neutrophils, Abnormality of the fingernails, Abnormality of the pharynx, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic anemia, Aplastic/hypoplastic toenail, Autosomal recessive inheritance, Bone marrow hypocellularity, Carious teeth, Cellular immunodeficiency, Cirrhosis, Esophageal stenosis, Esophageal stricture, Global developmental delay, Growth delay, Hepatic fibrosis, Hyperhidrosis, Hypermelanotic macule, Hyperpigmentation of the skin, Hypodontia, Hypopigmented skin patches, Increased lacrimation, Intellectual disability, Intrauterine growth retardation, Malabsorption, Microcephaly, Microdontia, Nail dysplasia, Nail dystrophy, Nasolacrimal duct obstruction, Oral leukoplakia, Osteoporosis, Pancytopenia, Periodontitis, Phenotypic variability, Pterygium of nails, Pulmonary fibrosis, Recurrent fractures, Recurrent respiratory infections, Reticulated skin pigmentation, Rough bone trabeculation, Short stature, Skin ulcer, Small nail, Sparse eyelashes, Sparse hair, Sparse scalp hair, Taurodontia, Telangiectasia of the skin, Testicular atrophy, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis
EN-V1-3	FASN	0.600983907	0.000243509	Enzyme: Synthase	BrainSpLMD|2194;Eurexp|euxassay_018666|cervical, cervico-thoracic, clavicle, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mandible, maxilla, midgut, molar, neural retina, orbito-sphenoid, otic capsule, pancreas, rib, submandibular gland primordium, testis, thoracic, thymus primordium, thyroid, trigeminal V, turbinate, vagus X, vestibulocochlear VIII, vibrissa	OMIM|600212
EN-V1-3	PDCD5	0.56587594	0.000246447	Unclassified	BrainSpLMD|9141	OMIM|604583
EN-V1-3	IAH1	0.559331158	0.000248052	Enzyme: Esterase	Eurexp|euxassay_005176|brain, glossopharyngeal IX, metanephros, pancreas, spinal cord, testis, thymus primordium, thyroid, trigeminal V, vestibulocochlear VIII	
EN-V1-3	OLFM1	0.553713141	0.000252574	Unclassified	BrainSpLMD|10439;Eurexp|euxassay_003026|axial skeleton, cervical, cervico-thoracic, diaphragm, diencephalon, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, hindbrain, incisor, limb, mantle layer, marginal layer, midbrain, molar, neural retina, nucleus pulposus, olfactory, pectoral girdle and thoracic body wall, spinal cord, stroma, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|605366
EN-V1-3	CCT7	0.696355164	0.000254492	Chaperone	BrainSpLMD|10574	OMIM|605140
EN-V1-3	NDUFAF4	0.270648206	0.000254696	Cell cycle control protein	BrainSpLMD|29078;Eurexp|euxassay_006782|epithelium, left, left lung, metanephros, midgut, pectoral girdle and thoracic body wall, right, right lung, submandibular gland primordium, vibrissa	OMIM|611776;HPO|29078|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
EN-V1-3	MYSM1	0.490490197	0.000257966	DNA binding protein	BrainSpLMD|114803	OMIM|612176
EN-V1-3	BSN	0.783465297	0.000258936	Transcription factor	BrainSpLMD|8927;Eurexp|euxassay_008029|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|604020
EN-V1-3	CD200	0.402533702	0.0002598	Cell surface receptor;Unclassified	BrainSpLMD|4345;Eurexp|euxassay_010522|anterior, aorta, basisphenoid bone, brain, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, mandible, maxilla, neural retina, orbito-sphenoid, radius, rib, scapula, spinal cord, thoracic, tibia, trigeminal V, turbinate bones, ulna, vagus X, vestibulocochlear VIII, vibrissa	OMIM|155970
EN-V1-3	OSBPL6	0.542467293	0.00026108	Transport/cargo protein	BrainSpLMD|114880;Eurexp|euxassay_000065|adrenal gland, cerebral cortex, dorsal root ganglion, epithelium, excretory component, facial VII, glossopharyngeal IX, hypothalamus, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lateral wall, nasal cavity, neural retina, oesophagus, olfactory lobe, pituitary, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|606734
EN-V1-3	PPP1R7	0.292675882	0.000262374	Serine/threonine phosphatase	BrainSpLMD|5510	OMIM|602877
EN-V1-3	CLVS1	1.179339141	0.000264165	Unclassified	BrainSpLMD|157807	OMIM|611292
EN-V1-3	GTDC1	0.481494744	0.000268098	Enzyme: Glycosyltransferase	BrainSpLMD|79712;Eurexp|euxassay_005120|brain, marginal layer, spinal cord	OMIM|610165
EN-V1-3	TIPRL	0.455502907	0.000295557	Unclassified	BrainSpLMD|261726	OMIM|611807
EN-V1-3	ATP5H	0.396580874	0.00029812			
EN-V1-3	LRPPRC	0.385232117	0.000299596	RNA binding protein	BrainSpLMD|10128	SFARI||Autism, No category;OMIM|607544;HPO|10128|Anteverted nares, Ataxia, Autosomal recessive inheritance, CNS demyelination, Delayed speech and language development, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Highly arched eyebrow, Hirsutism, Hyperglycemia, Hypertelorism, Hypoglycemia, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased serum lactate, Infantile onset, Lactic acidosis, Low anterior hairline, Malar flattening, Microvesicular hepatic steatosis, Midface retrusion, Peripheral demyelination, Prominent forehead, Strabismus, Tachypnea, Tremor, Wide nasal bridge
EN-V1-3	ATP5F1	0.463909354	0.000309162			
EN-V1-3	DCTN2	0.780626479	0.000311742	Motor protein	BrainSpLMD|10540	OMIM|607376
EN-V1-3	RUSC1	0.426502336	0.000312671	Adapter molecule	BrainSpLMD|23623;Eurexp|euxassay_007022|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|617318
EN-V1-3	SLC11A2	0.811915495	0.000315739	Transport/cargo protein	BrainSpLMD|4891	OMIM|600523;HPO|4891|Abnormality of metabolism/homeostasis, Abnormality of the liver, Anemia, Autosomal recessive inheritance, Decreased mean corpuscular volume
EN-V1-3	WDR83OS	0.341502877	0.000331765	Integral membrane protein	BrainSpLMD|51398	
EN-V1-3	ZFYVE27	0.333328392	0.000333225	Unclassified	BrainSpLMD|118813;Eurexp|euxassay_003201|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|610243;HPO|118813|Ankle clonus, Autosomal dominant inheritance, Babinski sign, Lower limb muscle weakness, Lower limb spasticity, Spastic gait, Spastic paraplegia, Talipes equinovarus
EN-V1-3	EXOC1	0.557913521	0.000341602	Transport/cargo protein	BrainSpLMD|55763	OMIM|607879
EN-V1-3	RP11.53O19.3	0.521329911	0.000344388			
EN-V1-3	MYL6B	0.527712844	0.000360747	Structural protein	BrainSpLMD|140465;Eurexp|euxassay_005932|brain, diaphragm, mesenchyme, paraxial mesenchyme, skeletal muscle, spinal cord, vertebral axis muscle system	OMIM|609930
EN-V1-3	SEZ6L2	0.775280482	0.000372478	Integral membrane protein	BrainSpLMD|26470;Eurexp|euxassay_006780|adenohypophysis, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, medulla, midgut, neural retina, olfactory, skeletal muscle, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|616667
EN-V1-3	HPRT1	0.906839826	0.00039128	Enzyme: Ribosyltransferase	BrainSpLMD|3251;Eurexp|euxassay_015575|Meckel's cartilage, dorsal root ganglion, facial VII, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, oesophagus, orbito-sphenoid, pancreas, rectum, stomach, submandibular gland primordium, thymus primordium, trigeminal V, urethra, ventral grey horn, vibrissa	OMIM|308000;HPO|3251|Abnormality of extrapyramidal motor function, Abnormality of movement, Anemia, Behavioral abnormality, Choreoathetosis, Dysarthria, Dysphagia, Dystonia, Generalized hypotonia, Gout, Hematuria, Hemiplegia/hemiparesis, Hyperreflexia, Hyperuricosuria, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Megaloblastic anemia, Motor delay, Nephrolithiasis, Opisthotonus, Podagra, Renal insufficiency, Short stature, Spasticity, Testicular atrophy, Vomiting, X-linked recessive inheritance
EN-V1-3	MRPL44	0.44700473	0.000394046	Ribosomal subunit	BrainSpLMD|65080	OMIM|611849;HPO|65080|Autosomal recessive inheritance, Elevated hepatic transaminases, Hypertrophic cardiomyopathy, Increased serum lactate, Infantile onset, Microvesicular hepatic steatosis, Variable expressivity
EN-V1-3	RAB11FIP4	0.573084232	0.000408252	Membrane transport protein	BrainSpLMD|84440;Eurexp|euxassay_009634|Meckel's cartilage, axial skeleton, basisphenoid bone, clavicle, cricoid, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, forebrain, glossopharyngeal IX, hindbrain, hip, humerus, mandible, metatarsus, midbrain, nasal septum, neural retina, orbito-sphenoid, otic capsule, petrous part, radius, rib, scapula, spinal cord, tarsus, thymus primordium, thyroid, tibia, trigeminal V, turbinate, vagus X	OMIM|611999
EN-V1-3	SC5D	0.345380672	0.000408908	Enzyme: Oxidase	BrainSpLMD|6309;Eurexp|euxassay_003227|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X	OMIM|602286;HPO|6309|Abnormal platelet morphology, Abnormality of the thoracic spine, Anisopoikilocytosis, Anteverted nares, Arnold-Chiari malformation, Autosomal recessive inheritance, Biparietal narrowing, Bulbous nose, Cataract, Cerebellar cortical atrophy, Cerebral calcification, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus, Failure to thrive, Full cheeks, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hearing impairment, Hepatic failure, Hepatomegaly, High palate, Horseshoe kidney, Hypoplasia of penis, Increased mean platelet volume, Intrahepatic cholestasis, Intrauterine growth retardation, Long philtrum, Lumbosacral meningocele, Meningocele, Microcephaly, Microcornea, Micrognathia, Muscular hypotonia, Myoclonus, Narrow forehead, Opacification of the corneal stroma, Postaxial foot polydactyly, Postaxial hand polydactyly, Prominent metopic ridge, Ptosis, Seizures, Short nose, Sloping forehead, Specific learning disability, Talipes, Thrombocytopenia, Toe syndactyly
EN-V1-3	PRRT2	0.260886404	0.000419517	Integral membrane protein	BrainSpLMD|112476	OMIM|614386;HPO|112476|Abnormality of movement, Abnormality of the face, Abnormality of vision, Absence seizures, Ataxia, Autosomal dominant inheritance, Choreoathetosis, Deeply set eye, Dysesthesia, Dyskinesia, Focal seizures, Generalized seizures, Hemiplegia/hemiparesis, Hyperactive deep tendon reflexes, Hypertonia, Incomplete penetrance, Migraine, Muscular hypotonia, Myoclonus, Normal interictal EEG, Nystagmus, Orofacial dyskinesia, Paresthesia, Paroxysmal choreoathetosis, Paroxysmal dyskinesia, Paroxysmal dystonia, Reduced consciousness/confusion, Seizures, Torsion dystonia
EN-V1-3	ATP5O	0.476990518	0.000420768			
EN-V1-3	ZNF793	0.416252173	0.000424879	DNA binding protein	BrainSpLMD|390927	
EN-V1-3	TPM3	0.42612735	0.000425364	Cytoskeletal associated protein;Structural protein	BrainSpLMD|7170	OMIM|191030;COSMIC||papillary thyroid, ALCL, NSCLC, Spitzoid tumour;HPO|7170|Autosomal dominant inheritance, Autosomal recessive inheritance, Bulbar palsy, Centrally nucleated skeletal muscle fibers, Congenital onset, Decreased fetal movement, Dilated cardiomyopathy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Dysphagia, EMG: myopathic abnormalities, Facial diplegia, Facial palsy, Failure to thrive, Feeding difficulties, Flexion contracture, Generalized muscle weakness, Heterogeneous, High palate, Juvenile onset, Long face, Lumbar hyperlordosis, Motor delay, Muscular hypotonia, Myopathy, Narrow face, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Pectus excavatum, Pes cavus, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Reduced tendon reflexes, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scoliosis, Shoulder girdle muscle atrophy, Type 1 fibers relatively smaller than type 2 fibers, Variable expressivity, Weak cry
EN-V1-3	NFASC	0.576286638	0.00043624	Adhesion molecule	BrainSpLMD|23114;Eurexp|euxassay_009740|brain, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|92672	OMIM|609145
EN-V1-3	NUTF2	0.699422315	0.00043667	Transport/cargo protein	BrainSpLMD|10204;Eurexp|euxassay_015153|basal columns, brain, central nervous system, cerebellum, cerebral cortex, cortex, dermal component, dermis, dorsal root ganglion, drainage component, ear, epidermal component, epithelium, facial VII, floorplate, forebrain, incisor, inner ear, lateral wall, left lung, liver, liver and biliary system, lobe, lower jaw, lung, male, mandible, mantle layer, marginal layer, medullary region, mesenchyme, metanephros, molar, nasal cavity, nervous system, nucleus pulposus, otic capsule, petrous part, physiological umbilical hernia, renal/urinary system, rest of cerebellum, right lung, sublingual gland primordium, submandibular gland primordium, telencephalon, temporal bone, testis, thymus primordium, tooth, trigeminal V, turbinate bones, upper jaw, vagus X, ventricular layer, vibrissa	OMIM|605813
EN-V1-3	LAMTOR4	0.332874256	0.000437859	Unclassified		
EN-V1-3	PCYOX1	0.619471471	0.00044273	Enzyme: Oxidase	BrainSpLMD|51449;Eurexp|euxassay_012457|dorsal root ganglion, floor plate, floorplate, glossopharyngeal IX, mantle layer, pituitary, trigeminal V, ventral grey horn, vibrissa	OMIM|610995
EN-V1-3	TRAPPC1	0.4364483	0.000451503	Transport/cargo protein	BrainSpLMD|58485	OMIM|610969
EN-V1-3	ITFG1	0.400418585	0.000453797	Integral membrane protein	BrainSpLMD|81533;Eurexp|euxassay_011448|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611803
EN-V1-3	ATP2A2	0.38064089	0.000457302	Membrane transport protein	BrainSpLMD|488	OMIM|108740;HPO|488|Abnormality of the hair, Acrokeratosis, Anal mucosal leukoplakia, Autosomal dominant inheritance, Bipolar affective disorder, Enlargement of parotid gland, Epidermal acanthosis, Hyperkeratosis, Hypermelanotic macule, Intellectual disability, mild, Palmar pits, Palmoplantar keratoderma, Plantar pits, Pruritus, Ridged nail, Schizophrenia, Seizures, Subungual hyperkeratotic fragments
EN-V1-3	EXOC4	0.286265939	0.000459154	Transport/cargo protein	BrainSpLMD|60412;Eurexp|euxassay_014340|brain, cervical, cranial, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608185
EN-V1-3	OCIAD2	0.307853156	0.000475496	Unclassified	BrainSpLMD|132299	
EN-V1-3	GDAP1L1	0.384086798	0.000488095	Integral membrane protein	BrainSpLMD|78997;Eurexp|euxassay_011524|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	
EN-V1-3	AP2B1	0.5481133	0.000488749	Unclassified;Transport/cargo protein	BrainSpLMD|163	OMIM|601025
EN-V1-3	TMEM245	0.453042097	0.000490406	Integral membrane protein	BrainSpLMD|23731;Eurexp|euxassay_000141|dorsal root ganglion, trigeminal V, vagus X, vestibulocochlear VIII	
EN-V1-3	LRRC75A.AS1	0.251135053	0.000499399			
EN-V1-3	NLN	0.45979355	0.000505098	Metallo protease	BrainSpLMD|57486	OMIM|611530
EN-V1-3	PARP6	1.063228979	0.000519104	DNA repair protein	BrainSpLMD|56965;Eurexp|euxassay_012100|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
EN-V1-3	TP53I11	0.316618326	0.00052088	Unclassified	BrainSpLMD|9537;Eurexp|euxassay_011840|dorsal root ganglion, glossopharyngeal IX, neural retina, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|93222	
EN-V1-3	SMARCA2	0.980721935	0.00052906	Transcription factor	BrainSpLMD|6595;Eurexp|euxassay_000790|cerebral cortex, mesenchyme	SFARI||Autism, No category;OMIM|600014;HPO|6595|Abnormal hair pattern, Abnormality of the metacarpal bones, Absence seizures, Absent eyebrow, Absent speech, Aggressive behavior, Alopecia, Anteverted nares, Aphasia, Autosomal dominant inheritance, Blepharophimosis, Brachydactyly, Broad distal phalanx of finger, Broad philtrum, Clubbing of toes, Cryptorchidism, Curly eyelashes, Dysphasia, Echolalia, Eczema, Epileptic spasms, Everted lower lip vermilion, Excessive wrinkled skin, Failure to thrive, Global developmental delay, High, narrow palate, Highly arched eyebrow, Hypotrichosis, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint dislocation, Long eyelashes, Long philtrum, Low anterior hairline, Microcephaly, Mutism, Narrow nasal bridge, Poor speech, Prominent interphalangeal joints, Sandal gap, Scoliosis, Seizures, Severe short stature, Short metacarpal, Short metatarsal, Short palm, Short palpebral fissure, Short phalanx of finger, Smooth philtrum, Sparse scalp hair, Specific learning disability, Status epilepticus, Thick lower lip vermilion, Thick nasal alae, Thin vermilion border, Triangular face, Wide intermamillary distance, Wide mouth, Wide nasal base
EN-V1-3	RABGAP1L	0.518087418	0.000529275	GTPase activating protein	BrainSpLMD|9910	OMIM|609238
EN-V1-3	IFT43	0.639847263	0.000529655	Unclassified	BrainSpLMD|112752	OMIM|614068;HPO|112752|Abnormal diaphysis morphology, Abnormal toenail morphology, Abnormality of the fingernails, Abnormality of the metaphysis, Anteverted nares, Autosomal recessive inheritance, Brachydactyly, Broad nail, Craniosynostosis, Cutis laxa, Dolichocephaly, Dry skin, Ectodermal dysplasia, Epicanthus, Everted lower lip vermilion, Fine hair, Finger syndactyly, Frontal bossing, Hypodontia, Hypoplasia of teeth, Hypotelorism, Joint hyperflexibility, Joint laxity, Microdontia, Narrow chest, Nephronophthisis, Osteoporosis, Pectus excavatum, Prominent occiput, Rhizomelia, Short distal phalanx of finger, Short nail, Short stature, Sparse hair, Syndactyly, Widely spaced teeth
EN-V1-3	NDUFA8	0.602510584	0.00055816	Enzyme: Dehydrogenase	BrainSpLMD|4702	OMIM|603359
EN-V1-3	ALS2	0.622178606	0.000563636	Guanine nucleotide exchange factor	BrainSpLMD|57679;Eurexp|euxassay_002036|brain, dorsal root ganglion, spinal cord, thymus primordium, trigeminal V	OMIM|606352;HPO|57679|Abnormal lower motor neuron morphology, Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Abnormality of eye movement, Abnormality of the corticospinal tract, Abnormality of the eye, Abnormality of the face, Achilles tendon contracture, Amyotrophic lateral sclerosis, Anarthria, Autosomal recessive inheritance, Babinski sign, Cerebral cortical atrophy, Chewing difficulties, Childhood onset, Decreased muscle mass, Difficulty in tongue movements, Distal amyotrophy, Drooling, Dysarthria, Dysphagia, EMG abnormality, EMG: chronic denervation signs, Gait disturbance, Gait imbalance, Hand muscle atrophy, Hyperreflexia, Infantile onset, Juvenile onset, Loss of speech, Lower limb spasticity, Motor delay, Muscle weakness, Pes cavus, Progressive, Pseudobulbar behavioral symptoms, Saccadic smooth pursuit, Scoliosis, Slow progression, Slow saccadic eye movements, Spastic dysarthria, Spastic gait, Spastic paraplegia, Spastic tetraparesis, Spastic tetraplegia, Spasticity, Spasticity of facial muscles, Spasticity of pharyngeal muscles, Tetraplegia, Upper limb spasticity, Urinary incontinence
EN-V1-3	GABARAP	0.694018237	0.000565233	Unclassified	BrainSpLMD|11337	OMIM|605125
EN-V1-3	MRPL30	0.55600516	0.000582709	Ribosomal subunit	BrainSpLMD|51263	OMIM|611838
EN-V1-3	PROM1	0.684544333	0.000583721	Integral membrane protein	BrainSpLMD|8842;BrainSpMouseDev|18889	OMIM|604365;HPO|8842|Abnormal electroretinogram, Abnormality of color vision, Abnormality of macular pigmentation, Abnormality of retinal pigmentation, Abnormality of the choroid, Abnormality of the fovea, Abnormality of the retinal vasculature, Abnormality of the testis, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the macula, Atypical scarring of skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cataract, Central scotoma, Conductive hearing impairment, Cone/cone-rod dystrophy, Dyschromatopsia, Glaucoma, Granular macular appearance, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Macular degeneration, Macular dystrophy, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paroxysmal involuntary eye movements, Perifoveal ring of hyperautofluorescence, Peripheral visual field loss, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Retinal thinning, Rod-cone dystrophy, Sensorineural hearing impairment, Undetectable electroretinogram, Wide nasal bridge, Yellow/white lesions of the macula
EN-V1-3	FAM200B	0.53553596	0.000597318	-		
EN-V1-3	POLR2I	0.926540502	0.000600679	RNA polymerase	BrainSpLMD|5438	OMIM|180662
EN-V1-3	RP11.658F2.8	0.377975319	0.000605697			
EN-V1-3	SMIM18	0.727271378	0.00061045			
EN-V1-3	PPP2CA	0.361518735	0.000622948	Serine/threonine phosphatase	BrainSpLMD|5515	OMIM|176915
EN-V1-3	PA2G4	0.441510758	0.000624695	Transcription regulatory protein	BrainSpLMD|5036	OMIM|602145
EN-V1-3	TTC37	0.330298238	0.000642264	Unclassified	BrainSpLMD|9652	OMIM|614589;HPO|9652|Abnormality of iron homeostasis, Abnormality of the immune system, Abnormality of the pancreas, Anteverted nares, Autosomal recessive inheritance, Bifid uvula, Brittle hair, Cholestasis, Cirrhosis, Cognitive impairment, Curly hair, Depressed nasal ridge, Diarrhea, Downslanted palpebral fissures, Failure to thrive, Fine hair, Frontal bossing, Galactosuria, Hepatic failure, Hepatic fibrosis, Hepatomegaly, Hypermethioninemia, Hypertelorism, Hypoalbuminemia, Intractable diarrhea, Intrauterine growth retardation, Jaundice, Large placenta, Long philtrum, Low-set ears, Microtia, Narrow mouth, Polyhydramnios, Prominent forehead, Proptosis, Renal cortical microcysts, Short stature, Small for gestational age, Sparse hair, Trichorrhexis nodosa, Underdeveloped supraorbital ridges, Villous atrophy, Wide mouth, Wide nose, Woolly hair
EN-V1-3	RP11.33B1.1	0.583947014	0.000663852			
EN-V1-3	SMARCD3	0.46216439	0.000684561	Transcription regulatory protein	BrainSpLMD|6604	OMIM|601737
EN-V1-3	SPIN1	0.2548473	0.000690612	Unclassified	BrainSpLMD|10927	OMIM|609936
EN-V1-3	UFC1	0.741297165	0.00069684	Unclassified	BrainSpLMD|51506;Eurexp|euxassay_000654|chondrocranium	OMIM|610554
EN-V1-3	PIK3C2B	0.806573037	0.000722037	Lipid Kinase	BrainSpLMD|5287	OMIM|602838
EN-V1-3	SNORA31	0.573536894	0.000723214			
EN-V1-3	OGFOD1	0.28866019	0.000730772	Enzyme: Oxidoreductase	BrainSpLMD|55239	OMIM|615857
EN-V1-3	BCAP29	0.386035903	0.000743417	Integral membrane protein	BrainSpLMD|55973;Eurexp|euxassay_000840|dorsal root ganglion, lobe, submandibular gland primordium, thymus primordium, vagus X, ventricular layer, vibrissa	
EN-V1-3	PTDSS1	0.595366765	0.00074589	Enzyme: Synthase	BrainSpLMD|9791;Eurexp|euxassay_003429|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa	OMIM|612792;HPO|9791|Abnormal cortical bone morphology, Abnormality of dental enamel, Abnormality of the dentition, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the nasolacrimal system, Agenesis of corpus callosum, Anteriorly placed anus, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the skin, Aplastic clavicles, Autosomal dominant inheritance, Brachydactyly, Broad clavicles, Broad forehead, Broad ribs, Choanal atresia, Choanal stenosis, Chordee, Cryptorchidism, Cutis laxa, Cutis marmorata, Delayed cranial suture closure, Delayed skeletal maturation, Diaphyseal thickening, Elbow ankylosis, Elbow flexion contracture, Epispadias, Facial hyperostosis, Facial palsy, Failure to thrive, Femoral hernia, Finger syndactyly, Flared metaphysis, Frontal bossing, Generalized hypotonia, Global developmental delay, Humeroradial synostosis, Hyperextensibility of the finger joints, Hypertelorism, Hypospadias, Inguinal hernia, Intellectual disability, Intellectual disability, moderate, Intrauterine growth retardation, Joint hyperflexibility, Knee flexion contracture, Lacrimal duct stenosis, Large fontanelles, Macrocephaly, Macrotia, Mandibular prognathia, Microglossia, Micrognathia, Osteopetrosis, Prematurely aged appearance, Progressive sclerosis of skull base, Prominent forehead, Prominent scalp veins, Proximal symphalangism of hands, Redundant skin, Relative macrocephaly, Sensorineural hearing impairment, Severe short stature, Short palm, Short stature, Sparse hair, Specific learning disability, Sporadic, Symphalangism affecting the phalanges of the hand, Syndactyly, Thick vermilion border, Thickened calvaria, Thin skin, Wide mouth
EN-V1-3	NPIPA1	0.447126202	0.000769656	Unclassified		OMIM|606406
EN-V1-3	ABCC5	0.835287933	0.000771878	Transport/cargo protein	BrainSpLMD|10057;Eurexp|euxassay_013680|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605251
EN-V1-3	TIMM17A	0.332218539	0.000783189	Enzyme: Translocase	BrainSpLMD|10440	OMIM|605057
EN-V1-3	C1orf21	0.49155753	0.00079305	Unclassified	BrainSpLMD|81563;Eurexp|euxassay_004907|adrenal gland, brain, dorsal root ganglion, glossopharyngeal IX, limb, lung, metanephros, midgut, olfactory, otic capsule, pharyngo-tympanic tube, pituitary, respiratory, retina, spinal cord, sternum, stomach, tail, thymus primordium, trigeminal V, vestibulocochlear VIII, vibrissa	
EN-V1-3	LEO1	0.438978068	0.000802922	Unclassified	BrainSpLMD|123169	OMIM|610507
EN-V1-3	ACTR10	0.288403391	0.000821036	Cytoskeletal associated protein	BrainSpLMD|55860	
EN-V1-3	LMBRD2	0.63509262	0.000824028	Unclassified	Eurexp|euxassay_011394|Meckel's cartilage, facial VII, femur, glossopharyngeal IX, phalanx, tarsus, trigeminal V, vagus X	
EN-V1-3	SOX12	0.510832269	0.000824903	Transcription factor	BrainSpLMD|6666;Eurexp|euxassay_019555|facial VII, glossopharyngeal IX, neural retina, trigeminal V;BrainSpMouseDev|20429	OMIM|601947
EN-V1-3	NDUFB8	0.424490375	0.000840562	Enzyme: Oxidoreductase	BrainSpLMD|4714	OMIM|602140
EN-V1-3	SPOCK1	0.844488941	0.000842954	Extracellular matrix protein	BrainSpLMD|6695;Eurexp|euxassay_008541|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, incisor, mantle layer, midbrain, molar, neural retina, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|602264
EN-V1-3	TAGLN3	0.409305686	0.000846911	Cytoskeletal associated protein;Unclassified	BrainSpLMD|29114;Eurexp|euxassay_000750|dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, inferior, neural retina, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607953
EN-V1-3	CDC123	0.325326006	0.000853169	Cell cycle control protein	BrainSpLMD|8872	OMIM|617708
EN-V1-3	MRPS23	0.630316762	0.000858743	Ribosomal subunit	BrainSpLMD|51649;Eurexp|euxassay_008238|alar plate, basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa	OMIM|611985
EN-V1-3	MKKS	0.823444699	0.000861002	Chaperone	BrainSpLMD|8195	OMIM|604896;HPO|8195|Abnormal electroretinogram, Abnormality of cardiovascular system morphology, Aganglionic megacolon, Anal atresia, Asthma, Ataxia, Autosomal recessive inheritance, Biliary tract abnormality, Brachydactyly, Broad foot, Congenital hip dislocation, Congenital primary aphakia, Cryptorchidism, Decreased testicular size, Delayed speech and language development, Dental crowding, Diabetes mellitus, Edema, Edema of the lower limbs, External genital hypoplasia, Foot polydactyly, Gait imbalance, Glandular hypospadias, Global developmental delay, Hepatic fibrosis, High, narrow palate, Hirsutism, Hydrometrocolpos, Hydronephrosis, Hydroureter, Hypertension, Hypodontia, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypospadias, Intellectual disability, Left ventricular hypertrophy, Mesoaxial hand polydactyly, Multicystic kidney dysplasia, Nephrogenic diabetes insipidus, Neurological speech impairment, Nystagmus, Obesity, Pigmentary retinopathy, Polycystic kidney dysplasia, Polydactyly, Poor coordination, Postaxial hand polydactyly, Pulmonary hypoplasia, Radial deviation of finger, Rectovaginal fistula, Renal cyst, Retinal degeneration, Rod-cone dystrophy, Short foot, Short stature, Specific learning disability, Strabismus, Syndactyly, Transverse vaginal septum, Urogenital sinus anomaly, Vaginal atresia, Vesicovaginal fistula
EN-V1-3	GPHN	0.920034447	0.000862409	Anchor protein;Unclassified	BrainSpLMD|10243;Eurexp|euxassay_000272|marginal layer, ventral grey horn	SFARI||Autism, 3 - Suggestive evidence;OMIM|603930;COSMIC||AL;HPO|10243|Apnea, Aspiration, Autosomal dominant inheritance, Autosomal recessive inheritance, Exaggerated startle response, Feeding difficulties, Frequent falls, Generalized tonic-clonic seizures, Hip dislocation, Hyperreflexia, Hypertonia, Hypokinesia, Infantile onset, Inguinal hernia, Molybdenum cofactor deficiency, Muscular hypotonia of the trunk, Myoclonus, Polymicrogyria, Poor eye contact, Poor head control, Seizures, Spontaneous abortion, Umbilical hernia
EN-V1-3	C12orf43	0.568576771	0.000864013	Unclassified	BrainSpLMD|64897	
EN-V1-3	COMMD7	0.790696522	0.000876255	Unclassified		OMIM|616703
EN-V1-3	C11orf74	1.018966552	0.00088527	Unclassified	BrainSpLMD|119710	
EN-V1-3	FBXL16	0.330425809	0.000888738	Ubiquitin proteasome system protein	BrainSpLMD|146330	OMIM|609082
EN-V1-3	ZC3H6	0.251433319	0.000901223	DNA binding protein	BrainSpLMD|376940	
EN-V1-3	SRR	1.032873346	0.000909704	Enzyme: Racemase	BrainSpLMD|63826	OMIM|606477
EN-V1-3	C20orf96	0.947858142	0.000913088	Unclassified	BrainSpLMD|140680	
EN-V1-3	COX5A	0.396259317	0.000934249	Regulatory/other subunit	BrainSpLMD|9377	OMIM|603773
EN-V1-3	BDP1	0.329982971	0.000940332	Transcription factor	BrainSpLMD|55814;Eurexp|euxassay_019513|dorsal root ganglion, incisor, lung, midgut, nucleus pulposus, submandibular gland primordium, vibrissa	OMIM|607012
EN-V1-3	GGCT	0.809530232	0.000951759	Unclassified	BrainSpLMD|79017	OMIM|137170
EN-V1-3	SHC3	0.926768944	0.000967941	Adapter molecule	BrainSpLMD|53358;Eurexp|euxassay_009466|cochlear duct, ventral grey horn, ventricular layer	OMIM|605263
EN-V1-3	LINC00599	0.823302492	0.000974161			
EN-V1-3	ZDHHC8P1	0.475844204	0.000980676		BrainSpLMD|150244	
EN-V1-3	C9orf78	0.60725991	0.000992915	Unclassified	BrainSpLMD|51759	
EN-V1-3	TRAPPC4	0.317913778	0.001001365	Transport/cargo protein	BrainSpLMD|51399;Eurexp|euxassay_002113|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, molar, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|610971
EN-V1-3	SLC16A2	1.10382421	0.001005119	Transport/cargo protein	BrainSpLMD|6567;Eurexp|euxassay_019716|choroid plexus, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lung, mantle layer, mesenchyme, pericardium, pituitary, thyroid, trigeminal V, vertebral axis muscle system, vibrissa;BrainSpMouseDev|20264	OMIM|300095;HPO|6567|Abnormal conjugate eye movement, Abnormality of the neck, Absent speech, Aphasia, Ataxia, Athetosis, Babinski sign, Bilateral single transverse palmar creases, Biparietal narrowing, Bowel incontinence, Clonus, Congenital onset, Delayed CNS myelination, Drooling, Dysarthria, Feeding difficulties in infancy, Flexion contracture, Generalized amyotrophy, Hallux valgus, Hyperreflexia, Hypoplasia of the musculature, Hypoplasia of the zygomatic bone, Hypothyroidism, Inability to walk, Increased thyroid-stimulating hormone level, Intellectual disability, progressive, Intellectual disability, severe, Irritability, Joint stiffness, Leukodystrophy, Macrotia, Microcephaly, Narrow face, Narrow forehead, Neonatal hypotonia, Open mouth, Pectus excavatum, Pes planus, Prominent antihelix, Scoliosis, Severe global developmental delay, Skeletal muscle atrophy, Spastic paraplegia, Spastic tetraplegia, Stahl ear, Underfolded superior helices, Upslanted palpebral fissure, Urinary incontinence, X-linked dominant inheritance
EN-V1-3	FUT8	0.835518897	0.001005177	Enzyme: Fucosyltransferase	BrainSpLMD|2530	OMIM|602589
EN-V1-3	C19orf43	0.324827387	0.001007148			
EN-V1-3	FGD4	0.533779455	0.00102297	Guanine nucleotide exchange factor	BrainSpLMD|121512;Eurexp|euxassay_009166|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, handplate, neural retina, olfactory, pancreas, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|611104;HPO|121512|Areflexia, Autosomal recessive inheritance, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal sensory impairment, Heterogeneous, Hyporeflexia, Infantile onset, Motor delay, Onion bulb formation, Peripheral demyelination, Pes cavus, Scoliosis, Talipes equinovarus, Upper limb muscle weakness, Waddling gait
EN-V1-3	PAQR3	0.277455215	0.001073438	Integral membrane protein	BrainSpLMD|152559	OMIM|614577
EN-V1-3	LINC01278	1.730290979	0.00107515			
EN-V1-3	AMN1	0.601424718	0.001088792	Unclassified	BrainSpLMD|196394	
EN-V1-3	ARPC1A	0.422117705	0.001108689	Cytoskeletal protein	BrainSpLMD|10552	OMIM|604220
EN-V1-3	EFR3A	0.771242111	0.001129816	Unclassified		SFARI||Autism, 3 - Suggestive evidence;OMIM|611798
EN-V1-3	DGUOK	0.254252102	0.001153474	Enzyme: Phosphotransferase	BrainSpLMD|1716	OMIM|601465;HPO|1716|Abnormal conjugate eye movement, Adult onset, Ascites, Autosomal recessive inheritance, Cerebral atrophy, Cerebral cortical atrophy, Cognitive impairment, Decreased activity of mitochondrial respiratory chain, Depletion of mitochondrial DNA in liver, Distal muscle weakness, Dysphonia, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Encephalopathy, Failure to thrive, Feeding difficulties in infancy, Generalized aminoaciduria, Generalized hypotonia, Growth delay, Hepatic failure, Hepatic steatosis, Hepatocellular necrosis, Hepatomegaly, Hyperbilirubinemia, Hyperreflexia, Hypoalbuminemia, Hypoglycemia, Hyporeflexia, Hypothermia, Increased serum lactate, Jaundice, Lactic acidosis, Microcephaly, Micronodular cirrhosis, Mitochondrial myopathy, Nystagmus, Peripheral axonal neuropathy, Periportal fibrosis, Polyneuropathy, Portal hypertension, Progressive external ophthalmoplegia, Proximal muscle weakness, Ptosis, Ragged-red muscle fibers, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Splenomegaly, Thrombocytopenia, Vomiting
EN-V1-3	COMMD9	0.596061559	0.001171657	Unclassified	BrainSpLMD|29099;Eurexp|euxassay_012061|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, otic capsule, pelvic girdle, rib, scapula, temporal bone, tibia, turbinate	OMIM|612299
EN-V1-3	NMRAL1	0.940067519	0.001181471	Unclassified	BrainSpLMD|57407;Eurexp|euxassay_006783|cortex, left lung, marginal layer, metanephros, olfactory lobe, pancreas, right lung, ventricular layer;BrainSpMouseDev|43667	
EN-V1-3	TUBA1C	0.256867378	0.001213727	Cytoskeletal protein	BrainSpLMD|84790	
EN-V1-3	GJC1	0.626142031	0.001226415	Transport/cargo protein	BrainSpLMD|10052;Eurexp|euxassay_012257|cortex, incisor, mantle layer, trachea, ventricular layer	OMIM|608655
EN-V1-3	DTD1	0.374293841	0.001244219	Enzyme: Ligase	BrainSpLMD|92675	OMIM|610996
EN-V1-3	PGD	1.207357185	0.001264965	Enzyme: Dehydrogenase	BrainSpLMD|5226;Eurexp|euxassay_010515|adrenal gland, axial muscle, dorsal root ganglion, liver, lung, mandible, maxilla, metanephros, midgut, orbito-sphenoid, stomach, thymus primordium	OMIM|172200
EN-V1-3	CLIP3	0.381535668	0.001295727	Cytoskeletal associated protein	BrainSpLMD|25999	OMIM|607382
EN-V1-3	ACTR1A	0.42378898	0.001296546	Cytoskeletal protein	BrainSpLMD|10121;Eurexp|euxassay_006567|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605143
EN-V1-3	SUB1P3	0.347325167	0.001297698			
EN-V1-3	LINC00665	0.68481015	0.001297761			
EN-V1-3	FKBP1C	0.632880897	0.001298451			
EN-V1-3	HARS	0.496140331	0.001320021	Enzyme: Ligase	BrainSpLMD|3035;Eurexp|euxassay_005327|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|142810;HPO|3035|Abnormal electroretinogram, Abnormality of cochlea, Absent Achilles reflex, Astigmatism, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Delayed gross motor development, Distal sensory impairment, Hammertoe, Hearing impairment, Hemianopia, High-grade hypermetropia, Horizontal nystagmus, Iris hypopigmentation, Nyctalopia, Optic disc pallor, Pes cavus, Photophobia, Scotoma, Sensorineural hearing impairment, Steppage gait, Truncal ataxia, Variable expressivity, Vestibular hypofunction, Visual impairment, Visual loss
EN-V1-3	DYNC1H1	0.537342775	0.001345664	ATPase	BrainSpLMD|1778;Eurexp|euxassay_008019|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|600112;HPO|1778|Abnormality of the foot, Autosomal dominant inheritance, Childhood onset, Decreased motor nerve conduction velocity, Decreased patellar reflex, Difficulty running, Distal muscle weakness, Distal sensory impairment, Downslanted palpebral fissures, EMG: neuropathic changes, Focal seizures, Frequent falls, Gait disturbance, Hyporeflexia, Intellectual disability, Limb muscle weakness, Microcephaly, Motor delay, Muscular hypotonia, Pachygyria, Pes cavus, Phenotypic variability, Plagiocephaly, Prominent forehead, Proximal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Seizures, Sensory impairment, Slow progression, Spinal muscular atrophy, Type 2 muscle fiber predominance, Waddling gait
EN-V1-3	NMT2	0.702348553	0.001389227	Enzyme: Transferase	BrainSpLMD|9397	OMIM|603801
EN-V1-3	MEAF6	0.307259837	0.001447835	Unclassified	BrainSpLMD|64769	OMIM|611001
EN-V1-3	TRIM16L	0.575146641	0.001482948	Unclassified		
EN-V1-3	VPS26B	0.61208587	0.001490385	Transport/cargo protein	BrainSpLMD|112936	OMIM|610027
EN-V1-3	RABAC1	0.396196357	0.001503151	GTPase activating protein	BrainSpLMD|10567;Eurexp|euxassay_000239|dorsal root ganglion, facial VII, glossopharyngeal IX, medulla oblongata, metencephalon, spinal, spinal cord, trigeminal V, vagus X	OMIM|604925
EN-V1-3	MAGED4B	0.917686734	0.001510247	Unclassified		OMIM|300765
EN-V1-3	ATP6V1E1	0.896746367	0.001529209	ATPase	BrainSpLMD|529;Eurexp|euxassay_018854|adrenal gland, basal plate, calyces, cochlear component, dorsal root ganglion, facial VII, inferior, superior, testis, trigeminal V, vagus X, vestibular component	OMIM|108746;HPO|529|Abnormal apolipoprotein level, Abnormal isoelectric focusing of serum transferrin, Abnormal subcutaneous fat tissue distribution, Aortic regurgitation, Atrial septal defect, Autosomal recessive inheritance, Bilateral cryptorchidism, Broad columella, Broad nasal tip, Carious teeth, Cerebellar hypoplasia, Coarse hair, Congenital hip dislocation, Dandy-Walker malformation, Decreased body weight, Decreased muscle mass, Delayed closure of the anterior fontanelle, Delayed speech and language development, Dementia, Dental crowding, Disproportionate tall stature, Downslanted palpebral fissures, Entropion, Excessive wrinkled skin, Failure to thrive, Feeding difficulties, Fragmented elastic fibers in the dermis, Generalized hypotonia, Generalized joint laxity, Global developmental delay, Hand clenching, High palate, Hip dysplasia, Hypertelorism, Infantile muscular hypotonia, Inguinal hernia, Intellectual disability, profound, Intrauterine growth retardation, Joint laxity, Knee flexion contracture, Kyphoscoliosis, Laryngomalacia, Lipodystrophy, Lissencephaly, Long philtrum, Low-set ears, Malar flattening, Mitral valve prolapse, Motor delay, Narrow naris, Nystagmus, Pachygyria, Pes planus, Polymicrogyria, Poor speech, Postnatal growth retardation, Progressive microcephaly, Prominent nasolabial fold, Prominent veins on trunk, Psychomotor deterioration, Reduced subcutaneous adipose tissue, Redundant neck skin, Seizures, Severe Myopia, Short nose, Short stature, Smooth philtrum, Sparse hair, Spasticity, Strabismus, Subretinal pigment epithelium hemorrhage, Talipes equinovarus, Thick cerebral cortex, Thick hair, Tricuspid regurgitation
EN-V1-3	PSMA5	0.608149841	0.001543445	Ubiquitin proteasome system protein	BrainSpLMD|5686	OMIM|176844
EN-V1-3	TTL	0.617048854	0.001557241	Enzyme: Ligase	BrainSpLMD|150465;Eurexp|euxassay_003613|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, ventral grey horn	OMIM|608291
EN-V1-3	RGL1	0.836180727	0.001560679	Guanine nucleotide exchange factor	BrainSpLMD|23179	OMIM|605667
EN-V1-3	NAA10	0.915951278	0.001563242	Enzyme: Acyltransferase	BrainSpLMD|8260;Eurexp|euxassay_002781|submandibular gland primordium	OMIM|300013;HPO|8260|Abnormal palmar dermatoglyphics, Abnormality of dental morphology, Abnormality of the dentition, Abnormality of the nares, Abnormality of the pinna, Aganglionic megacolon, Agenesis of maxillary lateral incisor, Aggressive behavior, Anal atresia, Anophthalmia, Atrial septal defect, Bicuspid aortic valve, Blindness, Broad hallux, Camptodactyly, Camptodactyly of finger, Cerebral atrophy, Chorioretinal coloboma, Ciliary body coloboma, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Coarse facial features, Complete duplication of thumb phalanx, Congenital onset, Cryptorchidism, Deep philtrum, Delayed cranial suture closure, Dental crowding, Depressed nasal bridge, Down-sloping shoulders, Downslanted palpebral fissures, Epicanthus, Everted upper lip vermilion, External ear malformation, Facial wrinkling, Finger syndactyly, Generalized hypotonia, Glaucoma, Global developmental delay, Growth delay, Hearing impairment, High palate, High, narrow palate, Hydronephrosis, Hydroureter, Hypertonia, Hypospadias, Inguinal hernia, Intellectual disability, Iris coloboma, Joint contracture of the hand, Kyphoscoliosis, Long eyelashes, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Macrotia, Microcephaly, Microcornea, Microphthalmia, Microretrognathia, Minimal subcutaneous fat, Motor delay, Narrow chest, Optic nerve coloboma, Oral cleft, Overfolded helix, Pectus excavatum, Postnatal growth retardation, Prominent forehead, Proptosis, Ptosis, Pulmonary artery stenosis, Pyloric stenosis, Radial deviation of finger, Rectal prolapse, Recurrent infections, Recurrent otitis media, Redundant skin, Renal hypoplasia, Renal hypoplasia/aplasia, Seizures, Self-mutilation, Short clavicles, Short columella, Short stature, Sparse and thin eyebrow, Spastic diplegia, Stereotypy, Supraventricular tachycardia, Syndactyly, Thick upper lip vermilion, Thin upper lip vermilion, Torsade de pointes, Underdeveloped nasal alae, Variable expressivity, Ventricular extrasystoles, Ventricular septal defect, Ventricular tachycardia, Webbed neck, Wide nasal bridge, X-linked dominant inheritance, X-linked inheritance, X-linked recessive inheritance
EN-V1-3	PCBP1	0.514437008	0.001568654	RNA binding protein	BrainSpLMD|5093;Eurexp|euxassay_006545|embryo	OMIM|601209;COSMIC||CRC
EN-V1-3	HMGCR	0.812025272	0.001580161	Enzyme: Reductase	BrainSpLMD|3156;Eurexp|euxassay_004330|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nucleus pulposus, spinal cord, thoracic, trigeminal V, vagus X	OMIM|142910
EN-V1-3	MED13L	0.32476103	0.001628841	Unclassified	BrainSpLMD|23389	SFARI||Autism, 2 - Strong candidate;OMIM|608771;HPO|23389|Ataxia, Autism, Autosomal dominant inheritance, Brachycephaly, Bulbous nose, Clinodactyly, Coloboma, Cryptorchidism, Depressed nasal bridge, Dysarthria, Everted lower lip vermilion, Frontal bossing, Generalized hypotonia, Global developmental delay, Hypertelorism, Incomplete penetrance, Infantile onset, Intellectual disability, moderate, Low-set ears, Macroglossia, Macrotia, Motor delay, Narrow forehead, Open mouth, Patent foramen ovale, Plagiocephaly, Poor speech, Prominent forehead, Recurrent infections, Round face, Short neck, Strabismus, Transposition of the great arteries, Triangular face, Upslanted palpebral fissure, Wide mouth
EN-V1-3	GDI2	0.282944656	0.001679584	Membrane transport protein	BrainSpLMD|2665	OMIM|600767
EN-V1-3	ARF5	1.315748742	0.001683113	G protein	BrainSpLMD|381	OMIM|103188
EN-V1-3	GRB2	0.275796604	0.001693508	Adapter molecule	BrainSpLMD|2885	OMIM|108355
EN-V1-3	CYTH1	0.448475602	0.001695418	Guanine nucleotide exchange factor	BrainSpLMD|9267	OMIM|182115
EN-V1-3	LMBR1	0.720282041	0.001710566	Cell surface receptor	BrainSpLMD|64327	OMIM|605522;HPO|64327|1-5 finger complete cutaneous syndactyly, 1-5 finger syndactyly, 2-3 toe syndactyly, 6 metacarpals, Abnormal heart morphology, Abnormality of epiphysis morphology, Abnormality of the face, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the wrist, Absent forearm, Absent hand, Absent metatarsal bone, Absent radius, Absent tibia, Absent toe, Aplasia of metacarpal bones, Aplasia of the phalanges of the hand, Aplasia of the tarsal bones, Aplasia of the ulna, Aplasia/Hypoplasia of the thumb, Autosomal dominant inheritance, Autosomal recessive inheritance, Bowing of the long bones, Broad foot, Camptodactyly of finger, Carpal bone aplasia, Clinodactyly of the 5th finger, Complete duplication of distal phalanx of the thumb, Depressed nasal ridge, Duplication of phalanx of hallux, Duplication of thumb phalanx, Fibular aplasia, Fibular duplication, Finger syndactyly, Foot polydactyly, Hand polydactyly, Increased fibular diameter, Limb duplication, Limitation of joint mobility, Lower limb peromelia, Mirror image polydactyly, Opposable triphalangeal thumb, Patellar aplasia, Polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Preaxial foot polydactyly, Preaxial hand polydactyly, Prominent nose, Short columella, Short foot, Short humerus, Short tibia, Supernumerary metacarpal bones, Syndactyly, Talipes, Tarsal synostosis, Toe syndactyly, Triphalangeal thumb, Underdeveloped nasal alae, Upper limb phocomelia
EN-V1-3	RP11.380L11.4	0.349010702	0.001741533			
EN-V1-3	NOL4L	0.264973507	0.001769498	Unclassified	BrainSpLMD|140688;Eurexp|euxassay_006045|ear, olfactory	
EN-V1-3	CYSTM1	0.722344803	0.001775659	Unclassified	BrainSpLMD|84418	
EN-V1-3	TSPO	0.337433843	0.00184434	Integral membrane protein	BrainSpLMD|706;Eurexp|euxassay_005714|liver	OMIM|109610
EN-V1-3	THRA	1.061600103	0.001885885	Nuclear receptor	BrainSpLMD|7067;BrainSpMouseDev|21592	SFARI||Autism, No category;OMIM|190120;HPO|7067|Abdominal distention, Anemia, Autosomal dominant inheritance, Coarse facial features, Congenital hip dislocation, Congenital hypothyroidism, Constipation, Delayed eruption of teeth, Delayed skeletal maturation, Drowsiness, Dry skin, Feeding difficulties, Growth delay, Hypertelorism, Hypothyroidism, Increased T3/T4 ratio, Increased body weight, Jaundice, Large fontanelles, Macroglossia, Muscular hypotonia, Omphalocele, Relative macrocephaly, Sleep disturbance, Thyroid hormone receptor defect, Umbilical hernia
EN-V1-3	RP4.635E18.8	0.486765945	0.001937435			
EN-V1-3	ATP6V0A2	0.582438437	0.001955041	ATPase	BrainSpLMD|23545;Eurexp|euxassay_011914|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, rib, scapula, sternum, tibia, turbinate bones, vault of skull	SFARI||Autism, 4 - Minimal evidence;OMIM|611716;HPO|23545|Abnormal apolipoprotein level, Abnormal isoelectric focusing of serum transferrin, Abnormal subcutaneous fat tissue distribution, Abnormality of the cheek, Anteverted nares, Atrial septal dilatation, Autosomal recessive inheritance, Broad nasal tip, Carious teeth, Cerebellar hypoplasia, Coarse hair, Congenital hip dislocation, Coxa vara, Cryptorchidism, Cutis laxa, Dandy-Walker malformation, Decreased muscle mass, Deep palmar crease, Deep plantar creases, Delayed closure of the anterior fontanelle, Delayed cranial suture closure, Delayed eruption of teeth, Delayed speech and language development, Dementia, Downslanted palpebral fissures, Epicanthus, Excessive skin wrinkling on dorsum of hands and fingers, Excessive wrinkled skin, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat face, Fragile nails, Fragmented elastic fibers in the dermis, Frontal bossing, Generalized hypotonia, Generalized joint laxity, Global developmental delay, High nonceruloplasmin-bound serum copper, High palate, Hypertelorism, Hypoplasia of the musculature, Infantile muscular hypotonia, Inguinal hernia, Intellectual disability, Intellectual disability, profound, Intrauterine growth retardation, Joint hypermobility, Kyphoscoliosis, Kyphosis, Lipodystrophy, Lissencephaly, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Microdontia, Midface retrusion, Motor delay, Multiple palmar creases, Multiple plantar creases, Muscular hypotonia, Myopia, Narrow mouth, Nasal speech, Neonatal wrinkled skin of hands and feet, Osteopenia, Pachygyria, Palmoplantar cutis laxa, Pectus excavatum, Pes planus, Polymicrogyria, Poor speech, Postnatal growth retardation, Premature rupture of membranes, Progressive cerebellar ataxia, Progressive microcephaly, Prominent nasolabial fold, Prominent veins on trunk, Psychomotor deterioration, Recurrent sinopulmonary infections, Redundant neck skin, Redundant skin, Scapular winging, Scoliosis, Seizures, Severe Myopia, Short nail, Short nose, Short stature, Slender long bone, Slender long bones with narrow diaphyses, Slurred speech, Small, conical teeth, Smooth philtrum, Sparse hair, Spasticity, Status epilepticus, Strabismus, Subretinal pigment epithelium hemorrhage, Talipes equinovarus, Thick cerebral cortex, Thick hair, Umbilical hernia, Wide anterior fontanel, Wide nasal bridge, Wormian bones
EN-V1-3	MRPS17	0.254810135	0.001960582	Ribosomal subunit	BrainSpLMD|51373	OMIM|611980
EN-V1-3	ASB8	0.610042535	0.002034816	Unclassified	BrainSpLMD|140461	OMIM|615053
EN-V1-3	CAMK1D	0.584301529	0.002051207	Serine/threonine kinase	BrainSpLMD|57118	OMIM|607957
EN-V1-3	PSMB1	0.342301194	0.002079242	Ubiquitin proteasome system protein	BrainSpLMD|5689;Eurexp|euxassay_000097|cerebral cortex, dorsal root ganglion, integumental system, midbrain, nose, retina, rib, trigeminal V, vagus X	OMIM|602017
EN-V1-3	ARCN1	0.699892627	0.002092049	Transport/cargo protein	BrainSpLMD|372	OMIM|600820;HPO|372|2-3 toe syndactyly, Accelerated skeletal maturation, Astigmatism, Autosomal dominant inheritance, Cleft palate, Coxa valga, Failure to thrive, Gait ataxia, High palate, Hypospadias, Hypotelorism, Intellectual disability, Intrauterine growth retardation, Metaphyseal widening, Microcephaly, Micrognathia, Micropenis, Motor delay, Myopia, Obstructive sleep apnea, Retrognathia, Rhizomelia, Scaphocephaly, Scrotal hypoplasia, Seizures, Ventricular septal defect
EN-V1-3	MRPL45	0.612774726	0.002108633	Ribosomal subunit	BrainSpLMD|84311	OMIM|611850
EN-V1-3	IDH3A	0.329674486	0.002141679	Enzyme: Dehydrogenase	BrainSpLMD|3419;Eurexp|euxassay_010648|glossopharyngeal IX, lobe, mandible, midgut, orbito-sphenoid, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, ventral grey horn, ventricle, vibrissa	OMIM|601149
EN-V1-3	FAM188A	0.750261412	0.002150234			
EN-V1-3	TRIO	0.454475906	0.002156408	Guanine nucleotide exchange factor	BrainSpLMD|7204;Eurexp|euxassay_013122|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|601893;HPO|7204|2-3 toe syndactyly, Aggressive behavior, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Brachydactyly, Clinodactyly, Delayed speech and language development, Dental crowding, Downslanted palpebral fissures, High forehead, High palate, Hypodontia, Macrotia, Microcephaly, Micrognathia, Motor delay, Obsessive-compulsive behavior, Phenotypic variability, Poor speech, Short nose, Synophrys, Tapered finger, Thick eyebrow, Thick vermilion border, Upslanted palpebral fissure
EN-V1-3	TCEAL4	0.400906635	0.002254446	Unclassified	BrainSpLMD|79921	
EN-V1-3	STAT2	0.439556458	0.002291163	Transcription factor	BrainSpLMD|6773	OMIM|600556;HPO|6773|Autosomal recessive inheritance, Variable expressivity
EN-V1-3	NCKAP1	0.387956824	0.002292614	Integral membrane protein	BrainSpLMD|10787;Eurexp|euxassay_009378|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|30368	SFARI||Autism, 2 - Strong candidate;OMIM|604891
EN-V1-3	RNF157	0.889934071	0.002293607	Ubiquitin proteasome system protein		
EN-V1-3	C1orf43	0.294313478	0.002358111	Unclassified	BrainSpLMD|25912	OMIM|617428
EN-V1-3	COX4I1	0.326787428	0.002489078	Enzyme: Oxidoreductase	BrainSpLMD|1327	OMIM|123864
EN-V1-3	DOCK3	1.097708977	0.002649712	Unclassified	BrainSpLMD|1795	OMIM|603123
EN-V1-3	RPS6KA5	0.551301242	0.002657148	Serine/threonine kinase	BrainSpLMD|9252	OMIM|603607
EN-V1-3	EIF4G3	0.280518808	0.002677744	Translation regulatory protein	BrainSpLMD|8672;Eurexp|euxassay_016776|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII	OMIM|603929
EN-V1-3	EPHB1	0.771343803	0.002701204	Receptor tyrosine kinase	BrainSpLMD|2047;Eurexp|euxassay_018955|floorplate, mantle layer, marginal layer, mesenchyme, neural retina, ventricular layer;BrainSpMouseDev|92948	OMIM|600600
EN-V1-3	RP11.15J10.1	1.073378886	0.002722025			
EN-V1-3	SDK2	0.377175428	0.002724291	Adhesion molecule	BrainSpLMD|54549;Eurexp|euxassay_009454|clavicle, femur, mantle layer, tongue, ventral grey horn, ventricular layer	OMIM|607217
EN-V1-3	FERMT2	0.555741804	0.002736148	Cytoskeletal protein	BrainSpLMD|10979;Eurexp|euxassay_012610|hindgut, metanephros, midgut, stomach, ventricular layer, wall	OMIM|607746
EN-V1-3	SPIRE2	1.500513834	0.002739631	Unclassified	Eurexp|euxassay_000098|Meckel's cartilage, associated mesenchyme, dorsal root ganglion, endocardial lining, facial VII, facial bones primordia, floorplate, forelimb, frontal bone primordium, gland, glossopharyngeal IX, hindlimb, hip, interventricular groove, left ventricle, leg, lung, mandible, mesenchyme, pectoral girdle and thoracic body wall, pituitary, rib, right ventricle, submandibular gland primordium, trigeminal V, urethra, urethral groove, urorectal septum, vagus X, ventricle, vestibulocochlear VIII	OMIM|609217
EN-V1-3	FMN2	0.460178181	0.002757078	Cytoskeletal associated protein	BrainSpLMD|56776	OMIM|606373;HPO|56776|Autosomal recessive inheritance, Global developmental delay, Infantile onset, Intellectual disability, Poor speech
EN-V1-3	DNAJC8P1	0.268326296	0.002766927			
EN-V1-3	TADA3	0.530693915	0.002836227	Transcription regulatory protein	BrainSpLMD|10474	OMIM|602945
EN-V1-3	PRKAR2A	0.439147765	0.002866758	Serine/threonine kinase	BrainSpLMD|5576	OMIM|176910
EN-V1-3	FGD5.AS1	0.419109099	0.002870497			
EN-V1-3	LSM10	0.877459237	0.002872411	RNA binding protein	BrainSpLMD|84967	
EN-V1-3	SPTBN2	0.36175124	0.002902167	Cytoskeletal associated protein	BrainSpLMD|6712	OMIM|604985;HPO|6712|Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Cognitive impairment, Delayed speech and language development, Dysarthria, Dysdiadochokinesis, Dysmetria, Facial myokymia, Gait ataxia, Gait disturbance, Gaze-evoked nystagmus, Global developmental delay, Hyperreflexia, Impaired smooth pursuit, Impaired vibratory sensation, Incoordination, Infantile onset, Intention tremor, Limb ataxia, Slow progression, Slurred speech
EN-V1-3	NRSN1	0.368386147	0.002911218	Integral membrane protein	BrainSpLMD|140767;Eurexp|euxassay_005168|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, nerve, olfactory lobe, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|616630
EN-V1-3	DERL1	0.533522912	0.00311929	Transport/cargo protein	BrainSpLMD|79139	OMIM|608813
EN-V1-3	HSD17B4	0.706376804	0.003136478	Enzyme: Dehydrogenase	BrainSpLMD|3295;Eurexp|euxassay_011373|lip, phalanx, ventricular layer, vibrissa	OMIM|601860;HPO|3295|Abnormal facial shape, Aplasia/Hypoplasia of the cerebellum, Autosomal recessive inheritance, Bile duct proliferation, Calcific stippling, Cerebral dysmyelination, Cholestasis, Corpus callosum atrophy, Cortical dysplasia, Decreased muscle mass, Delayed cranial suture closure, Delayed skeletal maturation, Depressed nasal bridge, Elevated hepatic transaminases, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Fetal ascites, Frontal bossing, Gait ataxia, Generalized cerebral atrophy/hypoplasia, Gliosis, Global developmental delay, Gonadal dysgenesis, Hammertoe, Hepatic steatosis, Hepatomegaly, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Increased circulating gonadotropin level, Infantile onset, Large fontanelles, Limited extraocular movements, Long philtrum, Low-set ears, Macrocephaly, Micrognathia, Neonatal hypotonia, Nystagmus, Osteopenia, Osteoporosis, Pectus excavatum, Pes cavus, Phenotypic variability, Polyhydramnios, Polymicrogyria, Primary adrenal insufficiency, Primary amenorrhea, Renal cyst, Retrognathia, Scaphocephaly, Scoliosis, Seizures, Sensorineural hearing impairment, Short stature, Split hand, Strabismus, Talipes equinovarus, Thoracic hypoplasia, Undetectable electroretinogram, Upslanted palpebral fissure, Ventriculomegaly, Visual impairment, Visual loss
EN-V1-3	RP11.212F11.1	0.395980941	0.003139832			
EN-V1-3	COA4	0.500693747	0.003151999	Unclassified	BrainSpLMD|51287	OMIM|608016
EN-V1-3	CDC42EP3	0.523666563	0.003176238	GTPase	BrainSpLMD|10602	OMIM|606133
EN-V1-3	FAM161A	0.362169003	0.003190977	Unclassified	Eurexp|euxassay_013156|choroid invagination, choroid plexus, roof plate	OMIM|613596;HPO|84140|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
EN-V1-3	MICU1	0.537320491	0.00324296	Unclassified	BrainSpLMD|10367	OMIM|605084;HPO|10367|Autosomal recessive inheritance, Difficulty running, Difficulty walking, Elevated serum creatine phosphokinase, Motor delay
EN-V1-3	LYST	0.439487998	0.00325174	Adapter molecule	BrainSpLMD|1130;Eurexp|euxassay_013972|axial skeleton	OMIM|606897;HPO|1130|Abnormality of coagulation, Abnormality of multiple cell lineages in the bone marrow, Amblyopia, Anemia, Areflexia, Autosomal recessive inheritance, Bruising susceptibility, Cranial nerve paralysis, Decreased nerve conduction velocity, Edema, Epistaxis, Fever, Foot dorsiflexor weakness, Gait disturbance, Generalized hypopigmentation, Giant melanosomes in melanocytes, Gingival bleeding, Gingivitis, Global developmental delay, Hepatomegaly, Hypopigmentation of hair, Hypopigmentation of the skin, Hyporeflexia, Immunodeficiency, Intellectual disability, Iris hypopigmentation, Jaundice, Leukopenia, Lymphadenopathy, Lymphoma, Macular hypoplasia, Neurodegeneration, Neutropenia, Nystagmus, Ocular albinism, Paresthesia, Periodontitis, Peripheral neuropathy, Photophobia, Progressive peripheral neuropathy, Recurrent bacterial skin infections, Recurrent cutaneous abscess formation, Recurrent respiratory infections, Recurrent systemic pyogenic infections, Reduced visual acuity, Seizures, Skin ulcer, Splenomegaly, Strabismus, Thrombocytopenia, Tremor, Visual impairment, White hair
EN-V1-3	MAP1A	1.073010299	0.003291147	Cytoskeletal associated protein	BrainSpLMD|4130	OMIM|600178
EN-V1-3	ELMO1	0.606962324	0.003308403	Unclassified;Motor protein	BrainSpLMD|9844;Eurexp|euxassay_012546|floor plate, floorplate, mantle layer, marginal layer, vibrissa	OMIM|606420
EN-V1-3	COX8A	0.261760686	0.00339964	Enzyme: Oxidoreductase	BrainSpLMD|1351	OMIM|123870
EN-V1-3	C1D	0.541925258	0.003428358	Transcription regulatory protein		OMIM|606997
EN-V1-3	ANAPC5	0.39038993	0.003448712	Cell cycle control protein	BrainSpLMD|51433	OMIM|606948
EN-V1-3	INTS10	0.697676728	0.003476964	Unclassified	BrainSpLMD|55174;Eurexp|euxassay_001760|mantle layer, marginal layer	OMIM|611353
EN-V1-3	COPS3	0.327579898	0.003496055	Transcription regulatory protein	BrainSpLMD|8533	OMIM|604665
EN-V1-3	LPGAT1	0.351797375	0.003513046	Enzyme: Acyltransferase	BrainSpLMD|9926	OMIM|610473
EN-V1-3	SARS	0.321358404	0.003576825	Enzyme: Ligase	BrainSpLMD|6301;Eurexp|euxassay_012234|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, orbito-sphenoid, submandibular gland primordium, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|607529
EN-V1-3	CCDC53	0.784450874	0.003588277			
EN-V1-3	TIMMDC1	0.363239448	0.003596192	Unclassified	BrainSpLMD|51300	OMIM|615534;HPO|51300|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
EN-V1-3	KIAA1109	0.313778707	0.003613025	Unclassified	BrainSpLMD|84162	OMIM|611565
EN-V1-3	MGST3	0.408144921	0.003613696	Enzyme: Glutathione transferase	BrainSpLMD|4259;Eurexp|euxassay_015092|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, neural retina, olfactory, spinal cord, stomach, stroma, thoracic, trigeminal V, urethra, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42290	OMIM|604564
EN-V1-3	C2orf69	0.870490634	0.003642025	Unclassified	BrainSpLMD|205327;Eurexp|euxassay_007579|mandible, maxilla, orbito-sphenoid	
EN-V1-3	C12orf76	0.780160628	0.003778082	Unclassified	BrainSpLMD|400073	
EN-V1-3	PSMC4	0.262625293	0.003805156	Ubiquitin proteasome system protein	BrainSpLMD|5704;Eurexp|euxassay_003493|dorsal root ganglion, facial VII, glossopharyngeal IX, left, pancreas, right, submandibular gland primordium, trigeminal V, vagus X, vibrissa	OMIM|602707
EN-V1-3	ITSN1	0.270808014	0.003929598	Adapter molecule	BrainSpLMD|6453;Eurexp|euxassay_003599|dorsal grey horn, marginal layer, ventricular layer;BrainSpMouseDev|16216	OMIM|602442
EN-V1-3	TSHZ3	0.62141577	0.003940016	DNA binding protein	BrainSpLMD|57616;Eurexp|euxassay_005648|dorsal root ganglion	SFARI||Autism, 4 - Minimal evidence;OMIM|614119
EN-V1-3	KIF1B	0.277412085	0.003942043	Motor protein	BrainSpLMD|23095;Eurexp|euxassay_013179|diaphragm, floor plate, floorplate, footplate, handplate, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, ventricular layer, vertebral axis muscle system	OMIM|605995;HPO|23095|Areflexia, Autosomal dominant inheritance, Axonal degeneration/regeneration, Cafe-au-lait spot, Cerebral hemorrhage, Congenital cataract, Congestive heart failure, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Elevated urinary norepinephrine, Episodic hypertension, Foot dorsiflexor weakness, Hammertoe, Hemangioma, Heterogeneous, Hypercalcemia, Hyperhidrosis, Hypertensive retinopathy, Hyporeflexia, Neoplasm, Onion bulb formation, Onset, Peripheral axonal atrophy, Pes cavus, Pheochromocytoma, Positive regitine blocking test, Proteinuria, Renal artery stenosis, Slow progression, Steppage gait, Tachycardia
EN-V1-3	PPA2	0.287424864	0.003962482	Enzyme: Phosphatase	BrainSpLMD|27068	OMIM|609988;HPO|27068|Autosomal recessive inheritance, Bradycardia, Congestive heart failure, Myocardial fibrosis, Myocarditis
EN-V1-3	MORN4	0.839902992	0.004136618	Unclassified	BrainSpLMD|118812;Eurexp|euxassay_007046|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|617736
EN-V1-3	IKBKAP	0.403629966	0.004177118			
EN-V1-3	PRR4	0.262788581	0.004206848	Unclassified	BrainSpLMD|11272	OMIM|605359
EN-V1-3	VTI1B	0.51563944	0.004290011	Unclassified	BrainSpLMD|10490;Eurexp|euxassay_009816|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	OMIM|603207
EN-V1-3	CSTF3	0.634666944	0.004444929	RNA binding protein	BrainSpLMD|1479;Eurexp|euxassay_003441|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|600367
EN-V1-3	MAN2A2	1.250417082	0.004449291	Enzyme: Hydroxylase	BrainSpLMD|4122	OMIM|600988
EN-V1-3	CHMP2A	0.643033899	0.004458169	Transport/cargo protein	BrainSpLMD|27243;Eurexp|euxassay_001955|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, olfactory, pancreas, rectum, spinal cord, thoracic, thymus primordium, trigeminal V, urethra, vibrissa	OMIM|610893
EN-V1-3	NUDC	0.499748015	0.004530909	Cell cycle control protein	BrainSpLMD|10726	OMIM|610325
EN-V1-3	TXNDC15	0.260717016	0.004557166	Unclassified	BrainSpLMD|79770	OMIM|617778
EN-V1-3	EXOC6B	0.903663375	0.004568582	Unclassified		SFARI||Autism, No category;OMIM|607880
EN-V1-3	SOD1	0.293810457	0.00457414	Enzyme: Superoxide dismutase	BrainSpLMD|6647	SFARI||Autism, No category;OMIM|147450;HPO|6647|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Degeneration of anterior horn cells, Degeneration of the lateral corticospinal tracts, Depressivity, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Heterogeneous, Hyperreflexia, Muscle cramps, Muscle weakness, Neurodegeneration, Pain, Paralysis, Pseudobulbar paralysis, Respiratory failure, Skeletal muscle atrophy, Sleep apnea, Spasticity, Xerostomia
EN-V1-3	TLN2	1.155503233	0.004621034	Cytoskeletal associated protein	BrainSpLMD|83660	OMIM|607349
EN-V1-3	ZNF281	0.2853377	0.004745305	Transcription regulatory protein	BrainSpLMD|23528;Eurexp|euxassay_007265|fundus region, lung, urethra, vertebral axis muscle system	
EN-V1-3	ELL2	0.601201406	0.004745986	Transcription factor	BrainSpLMD|22936	OMIM|601874
EN-V1-3	KLF3.AS1	0.532946304	0.004749124			
EN-V1-3	PRKAB2	0.787617445	0.004842484	Regulatory/other subunit	BrainSpLMD|5565;Eurexp|euxassay_004124|dorsal root ganglion, mantle layer, spinal cord, trigeminal V	OMIM|602741
EN-V1-3	DFNA5	0.803187504	0.004844857			
EN-V1-3	KIAA1279	0.415910794	0.004897516			
EN-V1-3	KRBOX4	0.388805865	0.004930706	DNA binding protein	BrainSpLMD|55634	OMIM|300585
EN-V1-3	ANKFY1	0.251108411	0.005093288	Transport/cargo protein	BrainSpLMD|51479	OMIM|607927
EN-V1-3	NAPA	0.307955946	0.005155994	Adapter molecule	BrainSpLMD|8775	OMIM|603215
EN-V1-3	GIT1	0.861813374	0.005250514	GTPase activating protein	BrainSpLMD|28964	OMIM|608434
EN-V1-3	NDEL1	0.300522383	0.005349692	Cell cycle control protein	BrainSpLMD|81565;Eurexp|euxassay_012621|clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, olfactory, orbito-sphenoid, trigeminal V, ventral grey horn, vomeronasal organ;BrainSpMouseDev|57675	OMIM|607538
EN-V1-3	PPME1	0.260396065	0.005546034	Enzyme: Methyltransferase	BrainSpLMD|51400;Eurexp|euxassay_003617|bladder, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, incisor, olfactory, penis, respiratory, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|611117
EN-V1-3	TMEM127	1.354752289	0.005595124	Unclassified	BrainSpLMD|55654;Eurexp|euxassay_000638|basal plate, ventral grey horn	OMIM|613403;COSMIC||pheochromocytoma, renal cell carcinoma
EN-V1-3	THYN1	0.585515709	0.00559813	Unclassified	BrainSpLMD|29087	OMIM|613739
EN-V1-3	HERC1	0.622416032	0.005602258	Membrane transport protein	BrainSpLMD|8925;Eurexp|euxassay_010717|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, mandible, maxilla, neural retina, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|605109;HPO|8925|Arachnodactyly, Autosomal recessive inheritance, Congenital onset, Downslanted palpebral fissures, Frontal bossing, Gait ataxia, Generalized hypotonia, Global developmental delay, High palate, Hyperlordosis, Hypertelorism, Intellectual disability, Joint laxity, Kyphosis, Large hands, Long face, Long foot, Long neck, Low-set ears, Macrocephaly, Macrotia, Malar flattening, Mandibular prognathia, Megalencephaly, Pes planus, Posteriorly rotated ears, Prominent forehead, Prominent nasal bridge, Proptosis, Scoliosis, Sparse eyebrow, Tall stature, Triangular face, Upslanted palpebral fissure, Ventriculomegaly
EN-V1-3	AC016716.2	0.309785008	0.005609968			
EN-V1-3	RAD51C	0.740743746	0.005697494	DNA repair protein	BrainSpLMD|5889	OMIM|602774;HPO|5889|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of the fallopian tube, Absent thumb, Almond-shaped palpebral fissure, Anal atresia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Breast carcinoma, Cryptorchidism, Esophageal atresia, External genital hypoplasia, Global developmental delay, Hydronephrosis, Hypopigmented skin patches, Hypoplasia of the radius, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Ovarian neoplasm, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Rectal atresia, Renal cyst, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Stage 5 chronic kidney disease, Thrombocytopenia, Tracheoesophageal fistula
EN-V1-3	TALDO1	0.291714937	0.00578937	Enzyme: Transaldolase	BrainSpLMD|6888	OMIM|602063;HPO|6888|Abnormal facial shape, Abnormality of glutamine metabolism, Abnormality of the clitoris, Abnormality of the kidney, Anemia, Asthma, Autosomal recessive inheritance, Cirrhosis, Clitoral hypertrophy, Coarctation of aorta, Decreased liver function, Deep philtrum, Depressed nasal bridge, Failure to thrive, Hepatic fibrosis, Hepatomegaly, Hepatosplenomegaly, Hydrops fetalis, Increased serum bile acid concentration, Intrauterine growth retardation, Low-set ears, Micronodular cirrhosis, Oligohydramnios, Pancytopenia, Patent ductus arteriosus, Patent foramen ovale, Poor suck, Premature skin wrinkling, Short philtrum, Small for gestational age, Splenomegaly, Synophrys, Telangiectasia, Thin vermilion border, Thrombocytopenia, Triangular face, Ventricular septal defect, Wide anterior fontanel, Wide mouth
EN-V1-3	SUN1	0.543988051	0.005829811	Integral membrane protein	BrainSpLMD|23353	OMIM|607723
EN-V1-3	BIVM	0.451499128	0.005864525	Unclassified	BrainSpLMD|54841	
EN-V1-3	SRGAP2C	0.345723835	0.005881663			OMIM|614704
EN-V1-3	ST6GAL2	0.316783872	0.005978524	Enzyme: Sialyltransferase	BrainSpLMD|84620	OMIM|608472
EN-V1-3	IFT20	0.440233178	0.005981378	Unclassified	BrainSpLMD|90410	OMIM|614394
EN-V1-3	FAM192A	0.448107832	0.006007399	Unclassified	BrainSpLMD|80011;Eurexp|euxassay_004902|adenohypophysis, brain, glossopharyngeal IX, incisor, lung, metanephros, molar, olfactory, respiratory, retina, spinal cord, submandibular gland primordium, thymus primordium, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|617766
EN-V1-3	ADIPOR1	0.446294872	0.006106038	Integral membrane protein	BrainSpLMD|51094	OMIM|607945
EN-V1-3	CIPC	0.979359529	0.00611232	Unclassified	BrainSpLMD|85457	OMIM|616995
EN-V1-3	EIF3H	0.546142795	0.006119723	Translation regulatory protein	BrainSpLMD|8667;Eurexp|euxassay_002980|axial skeleton	OMIM|603912
EN-V1-3	FAM127B	0.755112974	0.006201206			
EN-V1-3	SDAD1	0.369395874	0.006464324	Unclassified	BrainSpLMD|55153	
EN-V1-3	STX12	0.734483728	0.00658762	Membrane transport protein	BrainSpLMD|23673;Eurexp|euxassay_011670|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606892
EN-V1-3	BABAM1	0.426069895	0.006661509	Unclassified	BrainSpLMD|29086	OMIM|612766
EN-V1-3	TERF2IP	0.497952828	0.006915613	DNA binding protein;Cell cycle control protein	BrainSpLMD|54386	OMIM|605061;HPO|54386|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus
EN-V1-3	AC018720.10	0.541988887	0.006930426			
EN-V1-3	TAF11	0.559446702	0.006998147	Transcription regulatory protein	BrainSpLMD|6882	OMIM|600772
EN-V1-3	GNAI2	0.265169751	0.007038808	GTPase;G protein	BrainSpLMD|2771;Eurexp|euxassay_018077|submandibular gland primordium, ventricular layer, vibrissa	OMIM|139360;HPO|2771|Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Paroxysmal ventricular tachycardia, Sudden cardiac death
EN-V1-3	FBXO9	0.31214989	0.007314915	Ubiquitin proteasome system protein	BrainSpLMD|26268;Eurexp|euxassay_006958|dorsal root ganglion, facial VII, glossopharyngeal IX, liver, trigeminal V, vagus X	OMIM|609091
EN-V1-3	KIF26B	0.889058972	0.007326242	Unclassified	BrainSpLMD|55083;Eurexp|euxassay_016415|dorsal root ganglion, extrinsic ocular muscle, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, metanephros, nasal septum, penis, trigeminal V, ventral grey horn	OMIM|614026
EN-V1-3	SNX7	0.642493621	0.007446139	Unclassified	BrainSpLMD|51375	OMIM|614904
EN-V1-3	PRDM10	0.277273295	0.007451971	Transcription factor	BrainSpLMD|56980	
EN-V1-3	SNORA25	0.27064919	0.007684458			
EN-V1-3	USP46	0.303681687	0.007823522	Ubiquitin proteasome system protein	BrainSpLMD|64854	OMIM|612849
EN-V1-3	STX17	0.821437392	0.007885222	Membrane transport protein	BrainSpLMD|55014;Eurexp|euxassay_006759|cortex	OMIM|604204
EN-V1-3	KIAA0907	0.878654762	0.00791889			
EN-V1-3	CMAS	0.252141923	0.00792622	Enzyme: Ligase	BrainSpLMD|55907;Eurexp|euxassay_014837|brain, cervical, cervico-thoracic, dorsal root ganglion, lobe, rectum, spinal cord, thoracic	OMIM|603316
EN-V1-3	AMZ2P1	0.734891394	0.008066778		BrainSpLMD|201283	
EN-V1-3	CCDC28A	0.803578414	0.008104976	Unclassified	BrainSpLMD|25901;Eurexp|euxassay_006263|olfactory	OMIM|615353
EN-V1-3	DEF8	0.873345061	0.008210708	Unclassified	BrainSpLMD|54849	
EN-V1-3	CCSER2	0.276666599	0.008318093	Unclassified	BrainSpLMD|54462;Eurexp|euxassay_016859|dorsal root ganglion, facial VII, glossopharyngeal IX, marginal layer, neural retina, olfactory, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	
EN-V1-3	MRPL55	1.148860168	0.008460576	Ribosomal subunit	BrainSpLMD|128308	OMIM|611859
EN-V1-3	ANKRD13B	0.377374536	0.008468144	Unclassified	BrainSpLMD|124930	OMIM|615124
EN-V1-3	ESD	0.332974418	0.008473336	Enzyme: Esterase	BrainSpLMD|2098	OMIM|133280
EN-V1-3	FUNDC2	0.697138129	0.008511646	Unclassified	BrainSpLMD|65991	
EN-V1-3	PSME1	0.435143039	0.00856361	Ubiquitin proteasome system protein	BrainSpLMD|5720	OMIM|600654
EN-V1-3	DCAF6	0.443772843	0.008626878	Transcription regulatory protein	BrainSpLMD|55827	OMIM|610494
EN-V1-3	RRN3	0.335218128	0.008642722	Transcription factor	BrainSpLMD|54700	OMIM|605121
EN-V1-3	ZNF25	0.39153805	0.008736807	Transcription factor	BrainSpLMD|219749	OMIM|194528
EN-V1-3	NDUFA11	0.378830015	0.008823194	Enzyme: Oxidoreductase	BrainSpLMD|126328	OMIM|612638;HPO|126328|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
EN-V1-3	NDUFS2	0.647281861	0.009031641	Enzyme: Oxidoreductase	BrainSpLMD|4720	OMIM|602985;HPO|4720|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Blurred vision, Central scotoma, Centrocecal scotoma, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Mitochondrial respiratory chain defects, Muscle weakness, Nystagmus, Optic atrophy, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Retinal telangiectasia, Retinal vascular tortuosity, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Slow decrease in visual acuity, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
EN-V1-3	SRM	0.694946565	0.00904646	Enzyme: Synthase	BrainSpLMD|6723	OMIM|182891
EN-V1-3	THOC5	0.717522941	0.009154912	Unclassified	BrainSpLMD|8563	OMIM|612733
EN-V1-3	RRAGA	0.511160129	0.009288817	Unclassified	BrainSpLMD|10670	OMIM|612194
EN-V1-3	GAREM	0.437127449	0.009428169			
EN-V1-3	FAM229B	0.399159021	0.009498815	Unclassified		
EN-V1-3	FAM8A1	0.66262024	0.009557999	Integral membrane protein	BrainSpLMD|51439	
EN-V1-3	TRIM27	0.552960113	0.009603939	DNA binding protein	BrainSpLMD|5987;Eurexp|euxassay_018270|embryo	OMIM|602165;COSMIC||papillary thyroid
EN-V1-3	SUPT16H	0.332770459	0.009610743	Transcription factor	BrainSpLMD|11198;Eurexp|euxassay_019556|axial skeleton, dorsal grey horn, hindgut, incisor, lobe, lung, marginal layer, metanephros, midgut, olfactory, orbito-sphenoid, pancreas, phalanx, stomach, sublingual gland primordium, thymus primordium, urethra, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|77466	OMIM|605012
EN-V1-3	IDH3G	0.640249321	0.009760025	Enzyme: Dehydrogenase	BrainSpLMD|3421	OMIM|300089
EN-V1-3	NRD1	0.42157104	0.009840059			
EN-V1-3	RP4.769N13.6	0.322039339	0.009888351			
IN-STR	SIX3	4.000562986	0	Transcription factor	BrainSpLMD|6496;Eurexp|euxassay_019625|corpus striatum, dorsal root ganglion, mantle layer, neural retina, olfactory, pituitary, trigeminal V, ventral grey horn, ventricular layer, vomeronasal organ;BrainSpMouseDev|20235	OMIM|603714;HPO|6496|Absent nasal septal cartilage, Adrenal hypoplasia, Agenesis of corpus callosum, Anterior pituitary agenesis, Aplasia of the nose, Autosomal dominant inheritance, Bifid uvula, Cerebellar hypoplasia, Constipation, Cyclopia, Diabetes insipidus, Generalized hypotonia, Global developmental delay, Heterogeneous, Holoprosencephaly, Hypotelorism, Incomplete penetrance, Intellectual disability, Malar flattening, Median cleft lip and palate, Microcephaly, Microphthalmia, Midface retrusion, Schizencephaly, Scoliosis, Seizures, Single median maxillary incisor, Sporadic, Submucous cleft hard palate, Variable expressivity
IN-STR	LINC01305	3.607822524	0			
IN-STR	SYNPR	2.82559025	0	Membrane transport protein	BrainSpLMD|132204;Eurexp|euxassay_003004|alar plate, basal plate, diencephalon, dorsal grey horn, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, medulla oblongata, metencephalon, midbrain, thymus primordium, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|47844	
IN-STR	FOXP1	2.637637087	0	Transcription factor	BrainSpLMD|27086;Eurexp|euxassay_012052|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, handplate, humerus, mantle layer, mesenchyme, metatarsus, nasal septum, orbito-sphenoid, pelvic girdle, rib, scapula, temporal bone, tibia, turbinate;BrainSpMouseDev|72814	SFARI||Autism, 2 - Strong candidate;OMIM|605515;COSMIC||ALL;HPO|27086|Aggressive behavior, Anemia, Autosomal dominant inheritance, B-cell lymphoma, Broad nasal tip, Constipation, Delayed gross motor development, Delayed speech and language development, Downslanted palpebral fissures, Fatigue, Fever, Generalized hypotonia, Hyperactivity, Hyperhidrosis, Hypertelorism, Intellectual disability, Macrocephaly, Nausea and vomiting, Nystagmus, Open mouth, Prominent forehead, Pulmonary infiltrates, Retrognathia, Short nose, Stereotypy, Strabismus, Weight loss
IN-STR	ZFHX3	2.431524916	0	DNA binding protein	BrainSpLMD|463;Eurexp|euxassay_016590|axial skeleton, cervical, cervico-thoracic, cornea, dorsal root ganglion, exoccipital bone, facial VII, glossopharyngeal IX, head mesenchyme, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, mesenchyme, metatarsus, neural retina, orbito-sphenoid, penis, thoracic, trigeminal V, turbinate, vagus X, vault of skull, ventral grey horn;BrainSpMouseDev|11693	OMIM|104155;COSMIC||endometrial, gastric, prostate
IN-STR	BCL11B	1.613212669	0	Transcription regulatory protein;DNA binding protein	BrainSpLMD|64919;BrainSpMouseDev|37240	OMIM|606558;COSMIC||T-ALL;HPO|64919|Absent speech, Autosomal dominant inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hirsutism, Hypertelorism, Inflammatory abnormality of the skin, Intellectual disability, Micrognathia, Natal tooth, Pulmonary artery stenosis, Seizures, Severe combined immunodeficiency, Short palpebral fissure, Spastic tetraplegia, Umbilical hernia, Wormian bones
IN-STR	MEIS2	1.39362007	0	Transcription factor	BrainSpLMD|4212;BrainSpMouseDev|17303	OMIM|601740;HPO|4212|2-3 toe syndactyly, Atrial septal defect, Autistic behavior, Autosomal dominant inheritance, Biparietal narrowing, Broad hallux, Broad thumb, Cleft palate, Cleft upper lip, Coarctation of aorta, Deeply set eye, Delayed speech and language development, Gastroesophageal reflux, Global developmental delay, High anterior hairline, Highly arched eyebrow, Intellectual disability, Large forehead, Microcephaly, Narrow forehead, Pointed chin, Sandal gap, Short 2nd finger, Short 5th finger, Short philtrum, Short stature, Smooth philtrum, Sparse eyebrow, Tented upper lip vermilion, Upslanted palpebral fissure, Ventricular septal defect
IN-STR	RUNX1T1	1.108153527	0	Transcription regulatory protein	BrainSpLMD|862;Eurexp|euxassay_016597|dorsal grey horn, mantle layer;BrainSpMouseDev|12180	OMIM|133435;COSMIC||AML
IN-STR	DLX6.AS1	1.094068187	0			
IN-STR	SOX4	0.734299854	0	Transcription factor	BrainSpLMD|6659;Eurexp|euxassay_019583|cervical, cervico-thoracic, dorsal grey horn, dorsal root ganglion, incisor, lung, mantle layer, mesenchyme, metanephros, molar, neural retina, oesophagus, phalanx, submandibular gland primordium, testis, trachea, valve, vibrissa;BrainSpMouseDev|20439	OMIM|184430
IN-STR	DCC	2.096364248	3.33E-16	Cell surface receptor	BrainSpLMD|1630;Eurexp|euxassay_009578|mantle layer, marginal layer, neural retina, ventricular layer;BrainSpMouseDev|12956	OMIM|120470;COSMIC||CRC, melanoma, SCC;HPO|1630|Autosomal dominant inheritance, Bimanual synkinesia, Hereditary nonpolyposis colorectal carcinoma, Incomplete penetrance, Neoplasm of the stomach, Renal cell carcinoma, Squamous cell carcinoma, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma
IN-STR	BCL11A	0.914939182	3.33E-16	DNA binding protein	BrainSpLMD|53335;Eurexp|euxassay_007892|dorsal grey horn, incisor, naris, olfactory, pharyngo-tympanic tube, submandibular gland primordium, vibrissa;BrainSpMouseDev|13802	SFARI||Autism, 2 - Strong candidate;OMIM|606557;COSMIC||B-CLL;HPO|53335|Autosomal dominant inheritance, Congenital onset, Cupped ear, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, Global developmental delay, Intellectual disability, Joint hypermobility, Low-set ears, Microcephaly, Midface retrusion, Overfolded helix, Retrognathia, Strabismus, Thin upper lip vermilion
IN-STR	NNAT	1.262834887	6.44E-15	Regulatory/other subunit	BrainSpLMD|4826;Eurexp|euxassay_007364|brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, mesenchyme, mesothelium, midgut, neural retina, oesophagus, olfactory, paraxial mesenchyme, pericardial cavity, peritoneal cavity, right lung, skeletal muscle, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|17878	OMIM|603106
IN-STR	ZFHX4	1.598660309	6.88E-15	Transcription factor	BrainSpLMD|79776;Eurexp|euxassay_005820|epidermis, mantle layer, nasal septum, urethra;BrainSpMouseDev|56662	OMIM|606940;HPO|79776|Autosomal dominant inheritance, Congenital ptosis
IN-STR	LRRC16A	1.347242886	1.23E-14			
IN-STR	MEG3	1.023909277	2.12E-13			OMIM|605636
IN-STR	NRXN3	0.382897579	9.02E-13	Adhesion molecule	BrainSpLMD|9369;Eurexp|euxassay_009777|bladder, collecting ducts, inner ear, mantle layer, marginal layer, neural retina, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|600567
IN-STR	FRY	1.731755648	3.25E-12	Unclassified	BrainSpLMD|10129;Eurexp|euxassay_016041|axial skeleton, cervical, cervico-thoracic, clavicle, cricoid, dorsal root ganglion, exoccipital bone, facial VII, fibula, glossopharyngeal IX, mantle layer, metatarsus, nasal septum, neural retina, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, rest of mesenchyme, rib, sternum, temporal bone, thoracic, thyroid, tibia, trigeminal V, turbinate, vagus X, vestibulocochlear VIII, vibrissa	OMIM|614818
IN-STR	PLP1	2.441376402	6.42E-12	Structural protein	BrainSpLMD|5354;BrainSpMouseDev|18587	OMIM|300401;HPO|5354|Abnormal pyramidal signs, Abnormality of extrapyramidal motor function, Ataxia, Babinski sign, Bowel incontinence, Cerebral dysmyelination, Choreoathetosis, Degeneration of the lateral corticospinal tracts, Delayed speech and language development, Dysarthria, Dysmetria, Dysphagia, Dystonia, Failure to thrive, Flexion contracture, Generalized hypotonia, Global developmental delay, Head titubation, Hyperreflexia, Infantile onset, Intellectual disability, Juvenile onset, Lower limb muscle weakness, Lower limb spasticity, Microcephaly, Muscle weakness, Muscular hypotonia, Nystagmus, Optic atrophy, Pes cavus, Phenotypic variability, Progressive spastic quadriplegia, Psychomotor deterioration, Reduction of oligodendroglia, Rotary nystagmus, Scanning speech, Short stature, Skeletal muscle atrophy, Slow progression, Spastic gait, Spastic paraparesis, Spastic paraplegia, Spastic/hyperactive bladder, Spinocerebellar tract degeneration, Sudanophilic leukodystrophy, Tremor, X-linked recessive inheritance
IN-STR	MAML3	1.380265632	2.92E-11	DNA binding protein	BrainSpLMD|55534	OMIM|608991
IN-STR	PLEKHH2	2.8851594	3.60E-11	Cytoskeletal protein	BrainSpLMD|130271	OMIM|612723
IN-STR	RP11.166D19.1	1.071141847	5.92E-10			
IN-STR	SP9	1.699540385	8.03E-10		BrainSpLMD|100131390;BrainSpMouseDev|120188	
IN-STR	PBX3	2.085815654	4.33E-09	Transcription factor	BrainSpLMD|5090;Eurexp|euxassay_002571|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, pharyngo-tympanic tube, spinal cord;BrainSpMouseDev|18282	OMIM|176312
IN-STR	NELL1	1.643765593	6.58E-09	Enzyme: Oxidoreductase	BrainSpLMD|4745	SFARI||Autism, No category;OMIM|602319
IN-STR	CXXC4	1.446542546	2.30E-08	Unclassified	BrainSpLMD|80319;Eurexp|euxassay_008607|bladder, brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, head mesenchyme, incisor, larynx, medullary stroma, mesenchyme, midgut, molar, naris, neural retina, oesophagus, olfactory, pancreas, pelvic girdle, skeletal muscle, spinal cord, stomach, thoracic, thymus primordium, thyroid, trachea, trigeminal V, trunk mesenchyme, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|106413	OMIM|611645
IN-STR	DLX2	0.69617466	2.93E-08	Transcription factor	BrainSpLMD|1746;BrainSpMouseDev|13171	SFARI||Autism, 4 - Minimal evidence;OMIM|126255
IN-STR	PDE5A	1.852006726	3.06E-08	Enzyme: Phosphodiesterase	BrainSpLMD|8654;BrainSpMouseDev|88926	OMIM|603310
IN-STR	GUCY1A3	2.703852227	5.11E-08			
IN-STR	ZBTB20	1.16104718	9.07E-08	Transcription factor	BrainSpLMD|26137;BrainSpMouseDev|35770	SFARI||Autism, 3 - Suggestive evidence;OMIM|606025;HPO|26137|Abnormality of the palate, Absent axillary hair, Absent facial hair, Anemia, Anonychia, Autosomal dominant inheritance, Basilar impression, Bilateral cryptorchidism, Bone cyst, Brachycephaly, Broad forehead, Calcification of the auricular cartilage, Cataract, Conductive hearing impairment, Deeply set eye, Developmental regression, Distal amyotrophy, Downslanted palpebral fissures, Downturned corners of mouth, Gait disturbance, Generalized hypotonia, Generalized osteoporosis, Genu valgum, Gynecomastia, Hearing impairment, Hip contracture, Hydrocephalus, Hypogonadism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Increased size of the mandible, Intellectual disability, Irregular vertebral endplates, Knee flexion contracture, Kyphosis, Macrocephaly, Macrotia, Malar flattening, Metatarsus adductus, Midface retrusion, Myopathy, Narrow chest, Narrow iliac wings, Narrow mouth, Neurodegeneration, Osteolysis, Pectus excavatum, Pes cavus, Plagiocephaly, Posterior polar cataract, Posterior scalloping of vertebral bodies, Ptosis, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Sparse scalp hair, Sporadic, Superiorly displaced ears, Synophrys, Thick lower lip vermilion, Truncal obesity
IN-STR	MEIS1	1.213972579	9.15E-08	Transcription factor	BrainSpLMD|4211;Eurexp|euxassay_010373|cornea, epithelium, hindgut, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, respiratory, sublingual gland primordium, submandibular gland primordium, trachea, ventricular layer, vibrissa;BrainSpMouseDev|17037	OMIM|601739
IN-STR	SOX2.OT	0.531250305	9.72E-08			
IN-STR	VCAN	0.982417554	1.92E-07	Extracellular matrix protein	BrainSpLMD|1462	OMIM|118661;HPO|1462|Autosomal dominant inheritance, Cataract, Chorioretinal atrophy, Glaucoma, Myopia, Optic atrophy, Optically empty vitreous, Peripheral traction retinal detachment, Retinal pigment epithelial atrophy, Visual field defect, Visual loss, Vitreoretinal degeneration
IN-STR	GSE1	0.44270019	3.73E-07	Unclassified	BrainSpLMD|23199	OMIM|616886
IN-STR	AC079250.1	0.500101295	4.69E-07			
IN-STR	AC004158.3	1.522362461	7.47E-07			
IN-STR	C4orf3	0.390388289	7.57E-07	Integral membrane protein	BrainSpLMD|401152	
IN-STR	RYR2	1.461895039	1.02E-06	Intracellular ligand gated channel	BrainSpLMD|6262	OMIM|180902;HPO|6262|Autosomal dominant inheritance, Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardias, Right ventricular cardiomyopathy, Seizures, Sudden death, Syncope, Ventricular arrhythmia, Ventricular tachycardia, Vertigo
IN-STR	RPL7AP30	1.332596837	1.02E-06			
IN-STR	RP11.509E10.1	1.506592998	1.12E-06			
IN-STR	TLE4	1.57438123	1.45E-06	Transcription factor	BrainSpLMD|7091;Eurexp|euxassay_018870|calyces, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|21647	OMIM|605132
IN-STR	UNC79	0.809515833	1.70E-06	Unclassified	BrainSpLMD|57578	OMIM|616884
IN-STR	CELF4	0.688706061	1.86E-06	RNA binding protein	BrainSpLMD|56853;Eurexp|euxassay_009241|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|612679
IN-STR	GAD1	0.441831764	1.90E-06	Enzyme: Decarboxylase	BrainSpLMD|2571;Eurexp|euxassay_005634|cerebral cortex, corpus striatum, hindbrain, incisor, mantle layer, marginal layer, molar, olfactory lobe, oral region, spinal cord, telencephalon;BrainSpMouseDev|14191	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605363;HPO|2571|Autosomal recessive inheritance, Babinski sign, Cerebral palsy, Flexion contracture, Global developmental delay, Heterogeneous, Hyperreflexia, Infantile onset, Intellectual disability, Microcephaly, Scoliosis, Seizures, Spastic diplegia, Spastic tetraplegia
IN-STR	TTTY15	1.186657944	2.33E-06			
IN-STR	LRRC75A.AS1	0.328220218	3.04E-06			
IN-STR	RP11.778D9.4	0.931244624	3.06E-06			
IN-STR	UBR3	0.256630389	3.07E-06	Unclassified	BrainSpLMD|130507;Eurexp|euxassay_007551|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613831
IN-STR	KIAA0368	0.387995634	3.24E-06	Translation regulatory protein	BrainSpLMD|23392	OMIM|616694
IN-STR	RP11.588P7.1	1.211661154	4.08E-06			
IN-STR	KIAA2018	0.393311381	4.34E-06			
IN-STR	GRIK3	0.786073057	4.70E-06	Extracellular ligand gated channel	BrainSpLMD|2899;BrainSpMouseDev|14583	SFARI||Autism, No category;OMIM|138243
IN-STR	FAM84A	2.334937335	5.69E-06	Unclassified	BrainSpLMD|151354;Eurexp|euxassay_003388|respiratory, submandibular gland primordium, urethra, vibrissa	OMIM|611234
IN-STR	HNRNPA1L2	0.833518216	8.43E-06	RNA binding protein		
IN-STR	EPB41L4A.AS1	1.341073517	1.73E-05			
IN-STR	SEPT7P6	1.358134764	1.90E-05			
IN-STR	CDK17	1.051164396	1.99E-05	Serine/threonine kinase	BrainSpLMD|5128	OMIM|603440
IN-STR	RWDD1	0.870157655	2.11E-05	Unclassified	BrainSpLMD|51389	
IN-STR	ZNF521	2.455979206	2.50E-05	Transcription regulatory protein	BrainSpLMD|25925;BrainSpMouseDev|86218	OMIM|610974;COSMIC||ALL
IN-STR	EPHA4	1.01598475	2.60E-05	Receptor tyrosine kinase	BrainSpLMD|2043;BrainSpMouseDev|13616	OMIM|602188;HPO|2043|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
IN-STR	DLX6	0.948697368	3.48E-05	Transcription factor	BrainSpLMD|1750;BrainSpMouseDev|13175	SFARI||Autism, 4 - Minimal evidence;OMIM|600030;HPO|1750|Finger syndactyly, Oligodactyly
IN-STR	FOXO3	0.508013774	4.95E-05	Transcription factor	BrainSpLMD|2309;Eurexp|euxassay_019517|hindgut, liver, lung, midgut, stomach, submandibular gland primordium, thymus primordium, vibrissa;BrainSpMouseDev|35764	OMIM|602681;COSMIC||AL
IN-STR	MEIS3	1.263771103	4.95E-05	Transcription regulatory protein	BrainSpLMD|56917;BrainSpMouseDev|17304	
IN-STR	EEF1A1P13	1.689187037	5.12E-05			
IN-STR	NEMF	0.501398216	5.47E-05	Unclassified	BrainSpLMD|9147	OMIM|608378
IN-STR	PRRC2B	0.288586988	5.90E-05	Unclassified	BrainSpLMD|84726;Eurexp|euxassay_012252|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vomeronasal organ	
IN-STR	GTF2F2	0.273147675	6.98E-05	Transcription factor	BrainSpLMD|2963	OMIM|189969
IN-STR	GMPS	0.313281095	7.06E-05	Enzyme: Amidinotransferase	BrainSpLMD|8833	OMIM|600358;COSMIC||AML
IN-STR	SF3B4	0.260000428	7.58E-05	RNA binding protein	BrainSpLMD|10262	OMIM|605593;HPO|10262|Abnormal nasal morphology, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the cervical spine, Absent radius, Absent thumb, Aganglionic megacolon, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the ulna, Aqueductal stenosis, Arrhinencephaly, Atresia of the external auditory canal, Autosomal dominant inheritance, Bicornuate uterus, Broad hallux, Cleft palate, Cleft upper lip, Clinodactyly, Conductive hearing impairment, Delayed speech and language development, Downslanted palpebral fissures, Fibular hypoplasia, Foot oligodactyly, Gastroschisis, Hallux valgus, Hand oligodactyly, Hearing impairment, Hip dislocation, Hydrocephalus, Hypoplasia of first ribs, Hypoplasia of the epiglottis, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the zygomatic bone, Joint stiffness, Laryngeal hypoplasia, Limited elbow extension, Low-set ears, Lower eyelid coloboma, Malar flattening, Microcephaly, Micrognathia, Microretrognathia, Microtia, Midface retrusion, Overlapping toe, Polymicrogyria, Posteriorly rotated ears, Preauricular skin tag, Premature birth, Prominent nasal bridge, Ptosis, Radial deviation of finger, Radioulnar synostosis, Respiratory insufficiency, Retrognathia, Scoliosis, Short stature, Short toe, Skeletal dysplasia, Sparse lower eyelashes, Sprengel anomaly, Talipes equinovarus, Tetralogy of Fallot, Toe syndactyly, Triphalangeal thumb, Trismus, Unilateral renal agenesis, Urticaria, Variable expressivity, Velopharyngeal insufficiency, Wide mouth
IN-STR	NUDT4	0.315319826	8.37E-05	Unclassified	BrainSpLMD|11163	OMIM|609229
IN-STR	CTTN	0.266546081	8.54E-05	Cytoskeletal associated protein	BrainSpLMD|2017	OMIM|164765
IN-STR	POLR2D	0.560919584	8.65E-05	RNA polymerase	BrainSpLMD|5433	OMIM|606017
IN-STR	TMEM50A	0.44995553	9.04E-05	Integral membrane protein		OMIM|605348
IN-STR	CAPZB	0.461355274	9.16E-05	Cytoskeletal protein	BrainSpLMD|832;Eurexp|euxassay_011596|thymus primordium, thyroid	OMIM|601572
IN-STR	LHFP	1.804519017	0.000113558			
IN-STR	SLC8A1.AS1	1.71402692	0.000115754			
IN-STR	USP10	0.560880441	0.000122896	Ubiquitin proteasome system protein	BrainSpLMD|9100	OMIM|609818
IN-STR	STT3A	0.42093027	0.000129109	Integral membrane protein	BrainSpLMD|3703;Eurexp|euxassay_004591|clavicle, mandible, maxilla, orbito-sphenoid, rib, turbinate bones	OMIM|601134;HPO|3703|Abnormal glycosylation, Autosomal recessive inheritance, Cerebellar atrophy, Congenital onset, Cryptorchidism, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Impaired smooth pursuit, Intellectual disability, Microcephaly, Micropenis, Scrotal hypoplasia, Seizures
IN-STR	NDUFC1	0.928755861	0.000133644	Unclassified	BrainSpLMD|4717	OMIM|603844
IN-STR	RAB1A	0.258694268	0.000144498	GTPase	BrainSpLMD|5861	OMIM|179508
IN-STR	PCYOX1	0.359721933	0.000161871	Enzyme: Oxidase	BrainSpLMD|51449;Eurexp|euxassay_012457|dorsal root ganglion, floor plate, floorplate, glossopharyngeal IX, mantle layer, pituitary, trigeminal V, ventral grey horn, vibrissa	OMIM|610995
IN-STR	SCFD1	0.300553451	0.000163145	Membrane transport protein	BrainSpLMD|23256;Eurexp|euxassay_014266|vertebral axis muscle system	
IN-STR	MRPS10	0.684582024	0.000163437	Ribosomal subunit	BrainSpLMD|55173	OMIM|611976
IN-STR	GLO1	0.327246485	0.000164174	Enzyme: Lyase	BrainSpLMD|2739	SFARI||Autism, 4 - Minimal evidence;OMIM|138750
IN-STR	YTHDF2	0.328636741	0.000197661	Unclassified	BrainSpLMD|51441	OMIM|610640
IN-STR	DIMT1	0.390264083	0.000198415	Unclassified	BrainSpLMD|27292;Eurexp|euxassay_001602|ventricular layer	OMIM|612499
IN-STR	PPIG	0.602739392	0.000201666	Enzyme: Isomerase	BrainSpLMD|9360	OMIM|606093
IN-STR	C6orf62	0.356644263	0.00021634	Unclassified	BrainSpLMD|81688	
IN-STR	BICD2	0.367874847	0.000238551	Structural protein	BrainSpLMD|23299;Eurexp|euxassay_012575|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|609797;HPO|23299|Achilles tendon contracture, Areflexia, Autosomal dominant inheritance, Axial muscle weakness, Difficulty running, Gowers sign, Hyporeflexia, Motor delay, Spinal muscular atrophy, Talipes equinovarus, Toe walking, Variable expressivity, Waddling gait
IN-STR	PSMA6	0.436708896	0.000241234	Ubiquitin proteasome system protein		OMIM|602855
IN-STR	GAS2L3	1.519653214	0.000242758	Cytoskeletal protein	BrainSpLMD|283431	OMIM|617224
IN-STR	C11orf31	0.282032385	0.00024605			
IN-STR	KIAA0020	0.543441803	0.000260989			
IN-STR	N4BP2L2	0.499411589	0.00027078	Unclassified	BrainSpLMD|10443	OMIM|615788
IN-STR	CADM1	0.41525418	0.000279658	Adhesion molecule	BrainSpLMD|23705;Eurexp|euxassay_014807|Meckel's cartilage, brain, cervical, cervico-thoracic, cochlea, cortex, dorsal root ganglion, facial VII, frontal bone primordium, glossopharyngeal IX, incisor, lung, molar, olfactory, orbito-sphenoid, pharyngo-tympanic tube, pituitary, spinal cord, submandibular gland primordium, thoracic, trachea, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|34014	SFARI||Autism, 4 - Minimal evidence;OMIM|605686
IN-STR	GPIHBP1	0.978524352	0.00029781	Unclassified	BrainSpLMD|338328	OMIM|612757;HPO|338328|Acute pancreatitis, Autosomal recessive inheritance, Episodic abdominal pain, Eruptive xanthomas, Failure to thrive, Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Hyperlipoproteinemia, Hypertriglyceridemia, Increased circulating chylomicron levels, Lipemia retinalis, Recurrent pancreatitis, Splenomegaly
IN-STR	TPM4	0.542167428	0.000318964	Cytoskeletal protein		OMIM|600317;COSMIC||ALCL
IN-STR	KCTD20	0.367474045	0.000331318	Unclassified	BrainSpLMD|222658;Eurexp|euxassay_010084|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, vagus X	OMIM|615932
IN-STR	CCNT1	0.506787678	0.000339145	Cell cycle control protein	BrainSpLMD|904	OMIM|143055
IN-STR	RP11.74E24.2	0.348973852	0.000345203			
IN-STR	MGST3	0.275274075	0.000383638	Enzyme: Glutathione transferase	BrainSpLMD|4259;Eurexp|euxassay_015092|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, neural retina, olfactory, spinal cord, stomach, stroma, thoracic, trigeminal V, urethra, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42290	OMIM|604564
IN-STR	PIK3R3	0.307360642	0.000413617	Adapter molecule	BrainSpLMD|8503	OMIM|606076
IN-STR	CPEB4	0.460614232	0.000424809	RNA binding protein	BrainSpLMD|80315	OMIM|610607
IN-STR	SSR3	0.438378146	0.000434798	Membrane transport protein	BrainSpLMD|6747	OMIM|606213
IN-STR	ANKRD28	0.385831376	0.00044682	Unclassified	BrainSpLMD|23243	OMIM|611122
IN-STR	ARPP21	1.073974536	0.000469363		BrainSpLMD|10777;Eurexp|euxassay_008422|brain, diaphragm, dorsal grey horn, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, head mesenchyme, lip, mantle layer, marginal layer, mesenchyme, olfactory, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, spinal cord, tail, thymus primordium, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|605488
IN-STR	FOXP2	1.524474425	0.000505628	Transcription factor	BrainSpLMD|93986;Eurexp|euxassay_010964|axial skeleton, basal columns, bladder, cochlea, cortex, cranium, ear, extrinsic ocular muscle, femur, floor plate, floorplate, footplate, handplate, hindgut, humerus, lateral wall, leg, lung, mandible, mantle layer, meninges, mesenchyme, metatarsus, midgut, oesophagus, olfactory lobe, orbito-sphenoid, palatal shelf, pelvic girdle, phalanx, rectum, rest of mesenchyme, rib, skeleton, stomach, thyroid, tongue, trachea, turbinate bones, urethra, valve, ventral grey horn;BrainSpMouseDev|76994	SFARI||Autism, 3 - Suggestive evidence;OMIM|605317;HPO|93986|Abnormality of the basal ganglia, Abnormality of the face, Autosomal dominant inheritance, Delayed speech and language development, Incomprehensible speech, Oromotor apraxia
IN-STR	RP11.632C17__A.1	0.402134522	0.000534538			
IN-STR	DNMT3A	0.738066231	0.000568389	DNA methyltransferase	BrainSpLMD|1788;BrainSpMouseDev|13214	SFARI||Autism, 3 - Suggestive evidence;OMIM|602769;COSMIC||AML;HPO|1788|Autosomal dominant inheritance, Blepharophimosis, Intellectual disability, Macrocephaly, Round face, Tall stature
IN-STR	HIF1A	0.287985548	0.000568724	Transcription factor	BrainSpLMD|3091;BrainSpMouseDev|15027	OMIM|603348;COSMIC||endometrioid carcinoma, glioblastoma, colorectal, renal, lung, pancreatic
IN-STR	TUG1	0.356888285	0.00058507		BrainSpLMD|55000	OMIM|614971
IN-STR	DLX5	0.782518181	0.000602702	Transcription regulatory protein	BrainSpLMD|1749;BrainSpMouseDev|13174	OMIM|600028;HPO|1749|Autosomal recessive inheritance, Finger syndactyly, Oligodactyly, Sensorineural hearing impairment, Split foot, Split hand
IN-STR	PNISR	0.310510801	0.000610606	Unclassified	BrainSpLMD|25957;Eurexp|euxassay_011305|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|616653
IN-STR	RP11.553L6.5	0.76352882	0.000658255			
IN-STR	RBMXL1	0.921307055	0.000692351	-		
IN-STR	WBP4	1.091183168	0.0007011	RNA binding protein	BrainSpLMD|11193	OMIM|604981
IN-STR	SLC8A1	1.039119409	0.000719842	Membrane transport protein	BrainSpLMD|6546;Eurexp|euxassay_018859|atrium, brain, olfactory, respiratory, spinal cord, ventricle	OMIM|182305
IN-STR	ZFX	0.611659581	0.000732487	Transcription factor	BrainSpLMD|7543	OMIM|314980
IN-STR	CEP350	0.308432148	0.000745421	Unclassified	BrainSpLMD|9857	
IN-STR	TMEM33	0.367000754	0.000750309	Unclassified	BrainSpLMD|55161;Eurexp|euxassay_004897|dorsal root ganglion, glossopharyngeal IX, olfactory, respiratory, submandibular gland primordium, trigeminal V, vagus X, vibrissa	
IN-STR	NUDCD3	0.685960663	0.000786952	Unclassified	BrainSpLMD|23386	OMIM|610296
IN-STR	PARD6B	0.480144369	0.000804135	Adapter molecule	BrainSpLMD|84612	OMIM|608975
IN-STR	TIAL1	0.330452135	0.00081853	RNA binding protein	BrainSpLMD|7073;Eurexp|euxassay_010582|mantle layer	OMIM|603413
IN-STR	VCP	0.418703575	0.000853467	ATPase	BrainSpLMD|7415	OMIM|601023;HPO|7415|Abnormal brain FDG positron emission tomography, Abnormal nerve conduction velocity, Abnormality of pelvic girdle bone morphology, Abnormality of the cerebral white matter, Absent Achilles reflex, Aggressive behavior, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apraxia, Arthralgia, Autosomal dominant inheritance, Babinski sign, Back pain, Collectionism, Depressivity, Difficulty climbing stairs, Disinhibition, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, Dyspnea, Dystonia, EEG with continuous slow activity, EMG: neuropathic changes, Echolalia, Elevated alkaline phosphatase, Elevated alkaline phosphatase of bone origin, Elevated serum creatine phosphokinase, Emotional blunting, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontal cortical atrophy, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait disturbance, Gait imbalance, Generalized muscle weakness, Grammar-specific speech disorder, Hammertoe, Hip pain, Hyperorality, Impaired vibration sensation in the lower limbs, Inappropriate behavior, Irritability, Lack of insight, Limb fasciculations, Limb muscle weakness, Loss of speech, Lower limb hyperreflexia, Lumbar hyperlordosis, Memory impairment, Muscle cramps, Muscle weakness, Myopathy, Neurodegeneration, Pain, Paralysis, Pelvic girdle amyotrophy, Pelvic girdle muscle atrophy, Pelvic girdle muscle weakness, Perseveration, Personality changes, Pes cavus, Poor speech, Progressive, Proximal muscle weakness, Respiratory failure, Restlessness, Restrictive behavior, Rimmed vacuoles, Scapular winging, Shoulder girdle muscle atrophy, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Spastic gait, Spastic paraplegia, Spasticity, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold, Tongue fasciculations, Variable expressivity, Xerostomia
IN-STR	PUM1	0.395375107	0.000880985	RNA binding protein	BrainSpLMD|9698	OMIM|607204
IN-STR	FOXJ3	1.366659614	0.000884571	Transcription factor	BrainSpLMD|22887;BrainSpMouseDev|87088	OMIM|616035
IN-STR	FADS1	0.276926859	0.000943785	Enzyme: Oxidoreductase	BrainSpLMD|3992;Eurexp|euxassay_000686|adrenal gland, testis	OMIM|606148
IN-STR	TNKS	0.790459653	0.001101218	Enzyme: Ribosyltransferase	BrainSpLMD|8658;Eurexp|euxassay_015951|dorsal grey horn, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, ventral grey horn	OMIM|603303
IN-STR	VPS29	0.268493009	0.001113503	Transport/cargo protein;Enzyme: Hydrolase	BrainSpLMD|51699;Eurexp|euxassay_003692|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|606932
IN-STR	MPC1	0.954737781	0.001114891	Unclassified	BrainSpLMD|51660;Eurexp|euxassay_014791|adrenal gland, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V	OMIM|614738;HPO|51660|Autosomal recessive inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hypoglycemia, Increased serum lactate, Increased serum pyruvate, Lactic acidosis, Organic aciduria, Variable expressivity
IN-STR	PRPF4B	0.795729226	0.001115193	Serine/threonine kinase	BrainSpLMD|8899;Eurexp|euxassay_005644|embryo	OMIM|602338
IN-STR	AC016716.2	1.050646951	0.001159493			
IN-STR	FIS1	0.360918259	0.00116524	Unclassified	BrainSpLMD|51024	OMIM|609003
IN-STR	USP9Y	0.564313625	0.001173353	Ubiquitin proteasome system protein	BrainSpLMD|8287	SFARI||Autism, No category;OMIM|400005;HPO|8287|Azoospermia, Decreased testicular size, Male infertility, Non-obstructive azoospermia, Oligospermia, Y-linked inheritance
IN-STR	RIC3	1.130787206	0.001177529	Integral membrane protein	BrainSpLMD|79608	OMIM|610509
IN-STR	ELMO1	1.269580089	0.001188908	Unclassified;Motor protein	BrainSpLMD|9844;Eurexp|euxassay_012546|floor plate, floorplate, mantle layer, marginal layer, vibrissa	OMIM|606420
IN-STR	TRAM1	0.285080776	0.001192289	Membrane transport protein	BrainSpLMD|23471	OMIM|605190
IN-STR	USP16	0.735316498	0.001254736	Ubiquitin proteasome system protein	BrainSpLMD|10600	OMIM|604735
IN-STR	CTNNA2	0.876006246	0.001379205	Cytoskeletal protein	BrainSpLMD|1496;Eurexp|euxassay_011120|anterior, anterior abdominal wall, brain, cervical, cervico-thoracic, dermal component, dermis, dorsal root ganglion, facial VII, facial bones primordia, glossopharyngeal IX, inner ear, left lung, lip, medulla, midgut, molar, neural retina, oesophagus, olfactory, primitive seminiferous tubules, rectum, right lung, spinal cord, stomach, thoracic, thymus primordium, thyroid, tongue, trigeminal V, vagus X, valve, vestibulocochlear VIII, vomeronasal organ	OMIM|114025;COSMIC||gastric cancer
IN-STR	DLGAP4	0.800502191	0.001416658	Adapter molecule;Unclassified	BrainSpLMD|22839;Eurexp|euxassay_012602|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|616191
IN-STR	STRN3	0.344009262	0.001465273	Calcium binding protein	BrainSpLMD|29966	OMIM|614766
IN-STR	MPC2	1.029974184	0.001484552	Unclassified	BrainSpLMD|25874	OMIM|614737
IN-STR	MED23	0.542564787	0.001516477	Transcription regulatory protein	BrainSpLMD|9439;Eurexp|euxassay_005743|embryo	OMIM|605042;HPO|9439|Autosomal recessive inheritance, Intellectual disability
IN-STR	MED28	0.896605175	0.001541301	Transcription regulatory protein	BrainSpLMD|80306	OMIM|610311
IN-STR	C1orf52	0.469375791	0.001561122	Unclassified	BrainSpLMD|148423	
IN-STR	KLF12	1.088253814	0.001576234	Transcription regulatory protein	BrainSpLMD|11278	OMIM|607531
IN-STR	SLC4A7	0.375089235	0.001608423	Transport/cargo protein	BrainSpLMD|9497	OMIM|603353
IN-STR	SSH2	0.972772178	0.001638113	Dual specificity phosphatase	BrainSpLMD|85464	OMIM|606779
IN-STR	DNAJC15	0.575029336	0.001648582	Unclassified	BrainSpLMD|29103;Eurexp|euxassay_002653|adrenal gland	OMIM|615339
IN-STR	TNRC6C	0.99147728	0.001691446	RNA binding protein	BrainSpLMD|57690	OMIM|610741
IN-STR	UBQLN1	0.740305603	0.001741643	Ubiquitin proteasome system protein	BrainSpLMD|29979	OMIM|605046
IN-STR	TRMT10C	0.519093207	0.001750452	RNA methyltransferase	BrainSpLMD|54931;Eurexp|euxassay_006517|calyces, dermis, epidermis, hyoid bone, incisor, lung, mantle layer, marginal layer, molar, phalanx, submandibular gland primordium, tegmentum, temporal bone, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|615423;HPO|54931|Autosomal recessive inheritance, Congenital onset, Decreased liver function, Elevated hepatic transaminases, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Hyperalaninemia, Increased CSF lactate, Increased serum lactate, Lactic acidosis
IN-STR	AP2M1	0.417223724	0.001762395	Adapter molecule	BrainSpLMD|1173	OMIM|601024
IN-STR	NCOA4	0.80164973	0.001812111	Transcription regulatory protein	BrainSpLMD|8031	OMIM|601984;COSMIC||papillary thyroid;HPO|8031|Autosomal dominant inheritance, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma
IN-STR	CCT6P3	0.529051257	0.00181588			
IN-STR	APC2	1.275518826	0.001845479	Transcription regulatory protein	BrainSpLMD|10297;Eurexp|euxassay_007719|Meckel's cartilage, axial skeleton, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, rib, scapula, spinal cord, thoracic, tibia, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|23558	OMIM|612034;HPO|10297|Abnormality of immune system physiology, Accelerated skeletal maturation, Advanced eruption of teeth, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Conductive hearing impairment, Depressed nasal ridge, Dolichocephaly, Downslanted palpebral fissures, Feeding difficulties in infancy, Frontal bossing, Global developmental delay, High forehead, High palate, Hyperactivity, Hypertelorism, Hypoglycemia, Intellectual disability, Long face, Macrocephaly, Macrotia, Mandibular prognathia, Muscular hypotonia, Obesity, Poor speech, Precocious puberty, Prominent forehead, Prominent nose, Relative macrocephaly, Tall stature, Ventriculomegaly
IN-STR	MYEF2	0.386719109	0.001851718	Transcription regulatory protein	BrainSpLMD|50804;Eurexp|euxassay_001436|liver, otic capsule, vertebral axis muscle system	
IN-STR	GDI2	0.303502338	0.001889737	Membrane transport protein	BrainSpLMD|2665	OMIM|600767
IN-STR	RAD23B	0.796360566	0.002016993	DNA repair protein	BrainSpLMD|5887	OMIM|600062
IN-STR	CNIH1	0.299618759	0.002023662	Integral membrane protein	BrainSpLMD|10175	OMIM|611287
IN-STR	PHC3	0.585029361	0.002030881	Unclassified	BrainSpLMD|80012	
IN-STR	KIAA0226	0.879192407	0.002310513			
IN-STR	LRRC40	1.024103139	0.002364223	Unclassified	BrainSpLMD|55631	
IN-STR	STX7	0.373877769	0.002418323	Integral membrane protein	BrainSpLMD|8417;Eurexp|euxassay_011674|cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|603217
IN-STR	EXOSC8	0.877059865	0.002432512	Ribonuclease	BrainSpLMD|11340	OMIM|606019;HPO|11340|Autosomal recessive inheritance, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Failure to thrive, Feeding difficulties, Global developmental delay, Hearing impairment, Hypoplasia of the corpus callosum, Muscle weakness, Respiratory failure, Spastic tetraparesis, Spinal muscular atrophy, Visual impairment
IN-STR	ADAR	0.285360046	0.002440186	Enzyme: Deaminase	BrainSpLMD|103;Eurexp|euxassay_018648|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|146920;HPO|103|Arrhinencephaly, Autosomal dominant inheritance, Autosomal recessive inheritance, Cleft eyelid, Dystonia, Global developmental delay, Hemiplegia/hemiparesis, Hyperpigmented/hypopigmented macules, Infantile onset, Intellectual disability, profound, Loss of ability to walk, Loss of speech, Macular hyperpigmentation, Macular hypopigmentation, Macule, Porencephalic cyst, Rigidity, Spasticity, Torsion dystonia, Tremor
IN-STR	ZNF271	0.322298314	0.002489287			
IN-STR	ARFGAP2	0.611156946	0.002525297	GTPase activating protein	BrainSpLMD|84364	OMIM|606908
IN-STR	SDC3	0.856730629	0.002616716	Cell surface receptor	BrainSpLMD|9672	OMIM|186357
IN-STR	MAPRE2	0.305576136	0.002634146	Cytoskeletal associated protein	BrainSpLMD|10982;Eurexp|euxassay_007836|cervical, cervico-thoracic, dorsal root ganglion, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|605789;HPO|10982|Autosomal dominant inheritance, Broad neck, Carious teeth, Cleft palate, Cryptorchidism, Delayed speech and language development, Downslanted palpebral fissures, Edema, Epicanthus, Flat face, Generalized hypotonia, Hypoplasia of the corpus callosum, Hypospadias, Increased number of skin folds, Irregular hyperpigmentation, Low-set ears, Microcornea, Micrognathia, Microphthalmia, Microtia, Motor delay, Narrow mouth, Posteriorly rotated ears, Scrotal hypoplasia, Seizures, Short neck, Short palpebral fissure, Thickened skin, Upslanted palpebral fissure
IN-STR	CCNJ	0.362965958	0.002707673	Cell cycle control protein	BrainSpLMD|54619	
IN-STR	ZNF664	0.460630929	0.002725986	Transcription regulatory protein	BrainSpLMD|144348;Eurexp|euxassay_010335|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, inner ear, left lung, metanephros, molar, neural retina, olfactory, pharyngo-tympanic tube, right lung, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	
IN-STR	COPB2	0.521120616	0.002808662	Transport/cargo protein	BrainSpLMD|9276;Eurexp|euxassay_003332|cervical, cervico-thoracic, glomeruli, incisor, left, marginal layer, olfactory, right, submandibular gland primordium, testis, thoracic, thymus primordium, ventricular layer, vibrissa	OMIM|606990
IN-STR	HOOK3	0.50490434	0.002809568	Cytoskeletal associated protein	BrainSpLMD|84376	OMIM|607825;COSMIC||papillary thyroid
IN-STR	ZNF638	0.447585883	0.002822802	DNA binding protein	BrainSpLMD|27332	OMIM|614349
IN-STR	NT5C3A	0.336415436	0.002827572	Enzyme: Hydrolase	BrainSpLMD|51251;Eurexp|euxassay_006605|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, left, right, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606224;HPO|51251|Autosomal recessive inheritance, Hemoglobinuria, Hemolytic anemia
IN-STR	AKAP9	0.791030972	0.002982458	Adapter molecule	BrainSpLMD|10142;Eurexp|euxassay_007743|embryo	SFARI||Autism, 3 - Suggestive evidence;OMIM|604001;COSMIC||papillary thyroid;HPO|10142|Autosomal dominant inheritance, Prolonged QT interval, Syncope
IN-STR	BTBD9	0.744639852	0.003020878	Unclassified	BrainSpLMD|114781	OMIM|611237
IN-STR	WDR43	0.465248059	0.003145373	Unclassified	Eurexp|euxassay_006414|axial muscle, clavicle, cortex, incisor, midgut, molar, submandibular gland primordium, thymus primordium, vibrissa	OMIM|616195
IN-STR	NBAS	1.067042026	0.003203011	Unclassified	BrainSpLMD|51594	OMIM|608025;HPO|51594|Autosomal recessive inheritance, Brachycephaly, Brachydactyly, Cutis laxa, Epicanthus, Facial asymmetry, Fine hair, Long face, Long philtrum, Micromelia, Muscular hypotonia, Narrow forehead, Nonprogressive visual loss, Optic atrophy, Postnatal growth retardation, Prominent glabella, Proptosis, Reduced visual acuity, Sandal gap, Short neck, Short stature, Thick eyebrow, Thin vermilion border
IN-STR	ASNS	0.52542064	0.003262116	Enzyme: Synthase	BrainSpLMD|440;Eurexp|euxassay_004453|dorsal root ganglion, facial VII, floorplate, glossopharyngeal IX, incisor, liver, lung, mantle layer, marginal layer, midgut, naso-lacrimal duct, pancreas, retina, skeletal muscle, stomach, trigeminal V, vagus X	OMIM|108370;HPO|440|Autosomal recessive inheritance, Cerebellar hypoplasia, Cortical dysplasia, Cortical gyral simplification, Cortical visual impairment, Delayed myelination, Encephalopathy, Exaggerated startle response, Failure to thrive, Feeding difficulties, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Hypsarrhythmia, Large hands, Long foot, Macrotia, Microcephaly, Micrognathia, Muscular hypotonia of the trunk, Profound global developmental delay, Progressive, Progressive microcephaly, Respiratory insufficiency, Seizures, Sloping forehead, Spastic tetraplegia, Ventriculomegaly
IN-STR	EAPP	0.407804743	0.003328553	Unclassified	BrainSpLMD|55837	OMIM|609486
IN-STR	CHD9	0.413950293	0.003371678	DNA binding protein	BrainSpLMD|80205	OMIM|616936
IN-STR	JKAMP	0.875969316	0.003425104	Integral membrane protein	BrainSpLMD|51528;Eurexp|euxassay_009285|brain, spinal cord, trigeminal V	OMIM|611176
IN-STR	POLR2J	0.377837984	0.003526433	RNA polymerase	BrainSpLMD|5439	OMIM|604150
IN-STR	RPL7L1	0.342732688	0.003749605	Ribosomal subunit	Eurexp|euxassay_007021|embryo	OMIM|617417
IN-STR	SRSF11	0.391416907	0.003757248	Transcription regulatory protein	BrainSpLMD|9295	SFARI||Autism, 2 - Strong candidate;OMIM|602010
IN-STR	ERBB2IP	0.307979596	0.003810708			
IN-STR	ECD	0.5143711	0.003814452	Transcription regulatory protein	BrainSpLMD|11319	OMIM|616464
IN-STR	PHACTR4	1.048858178	0.003919554	Regulatory/other subunit		OMIM|608726
IN-STR	SNCAIP	0.328972889	0.003961462	Unclassified	BrainSpLMD|9627	OMIM|603779;HPO|9627|Bradykinesia, Constipation, Dementia, Depressivity, Dysarthria, Dysphagia, Dystonia, Insidious onset, Lewy bodies, Mask-like facies, Neuronal loss in central nervous system, Parkinsonism, Personality changes, Postural instability, Progressive, Resting tremor, Rigidity, Short stepped shuffling gait, Sleep disturbance, Sporadic, Substantia nigra gliosis, Urinary urgency, Weak voice
IN-STR	USP8	0.757018385	0.004066141	Ubiquitin proteasome system protein	BrainSpLMD|9101	OMIM|603158;COSMIC||corticotroph adenoma;HPO|9101|Abdominal obesity, Abnormal fear/anxiety-related behavior, Acne, Adrenal hyperplasia, Alkalosis, Anxiety, Biconcave vertebral bodies, Bruising susceptibility, Depressivity, Diabetes mellitus, Edema, Facial erythema, Failure to thrive, Fatigue, Generalized hirsutism, Glucose intolerance, Hirsutism, Hypertension, Hypokalemia, Immunodeficiency, Increased circulating ACTH level, Infertility, Kyphosis, Lipodystrophy, Menorrhagia, Metrorrhagia, Mood changes, Nephrolithiasis, Oligomenorrhea, Osteoporosis, Pituitary adenoma, Poor wound healing, Psychotic mentation, Purpura, Recurrent fractures, Round face, Skeletal muscle atrophy, Striae distensae, Thin skin, Truncal obesity, Vertebral compression fractures
IN-STR	SNRNP27	0.665523198	0.004174111	Unclassified	BrainSpLMD|11017;Eurexp|euxassay_005931|embryo	
IN-STR	MLXIP	0.278420417	0.004179156	Transcription factor	BrainSpLMD|22877;Eurexp|euxassay_016215|mandible, maxilla, orbito-sphenoid, rib;BrainSpMouseDev|83930	OMIM|608090
IN-STR	TUFM	0.258623129	0.004207746	Translation regulatory protein	BrainSpLMD|7284	OMIM|602389;HPO|7284|Autosomal recessive inheritance, Death in infancy, Developmental regression, Encephalopathy, Hepatomegaly, Hyperammonemia, Increased serum lactate, Infantile onset, Intrauterine growth retardation, Lactic acidosis, Metabolic acidosis, Microcephaly, Neonatal hypotonia, Nystagmus, Opisthotonus, Polymicrogyria, Respiratory failure
IN-STR	HSPA4	0.658550572	0.004240267	Chaperone	BrainSpLMD|3308	OMIM|601113
IN-STR	SNHG1	0.398589373	0.004444175			OMIM|603222
IN-STR	LINC00493	0.624511023	0.004486166			
IN-STR	MMADHC	0.670044261	0.004843532	Unclassified	BrainSpLMD|27249	OMIM|611935;HPO|27249|Anorexia, Autosomal recessive inheritance, Behavioral abnormality, Cerebral cortical atrophy, Decreased adenosylcobalamin, Decreased methionine synthase activity, Decreased methylcobalamin, Decreased methylmalonyl-CoA mutase activity, Dystonia, Failure to thrive, Fatigue, Gait disturbance, Generalized hypotonia, Global developmental delay, Homocystinuria, Hyperhomocystinemia, Hypomethioninemia, Increased mean corpuscular volume, Infantile onset, Intellectual disability, Lethargy, Megaloblastic anemia, Megaloblastic bone marrow, Methylmalonic acidemia, Methylmalonic aciduria, Nystagmus, Pallor, Seizures, Spastic ataxia
IN-STR	LMO3	0.738152424	0.004877115	Transcription regulatory protein	BrainSpLMD|55885;Eurexp|euxassay_016491|intermediate grey horn, mantle layer, ventral grey horn;BrainSpMouseDev|73751	OMIM|180386
IN-STR	ARID1B	0.35656568	0.004933049	Transcription factor	BrainSpLMD|57492	SFARI||Autism, 1 - High confidence;OMIM|614556;COSMIC||breast, hepatocellular carcinoma;HPO|57492|Abnormal hair pattern, Abnormality of cardiovascular system morphology, Abnormality of the dentition, Abnormality of the metacarpal bones, Abnormality of the pinna, Abnormality of vision, Absence seizures, Agenesis of corpus callosum, Aggressive behavior, Alopecia, Anteverted nares, Aphasia, Aplasia of the uterus, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Astigmatism, Atrial septal defect, Autistic behavior, Autosomal dominant inheritance, Autosomal recessive inheritance, Blepharophimosis, Brachydactyly, Broad distal phalanx of finger, Broad nasal tip, Bulbous nose, Choanal atresia, Cleft palate, Clubbing of toes, Coarse facial features, Congenital diaphragmatic hernia, Coxa valga, Cryptorchidism, Curly eyelashes, Cutis marmorata, Dandy-Walker malformation, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Depressed nasal ridge, Dislocated radial head, Downslanted palpebral fissures, Duodenal ulcer, Dysphasia, Echolalia, Ectopic kidney, Eczema, Elbow dislocation, Epicanthus, Epileptic spasms, Everted lower lip vermilion, Excessive wrinkled skin, Facial hypertrichosis, Failure to thrive, Feeding difficulties in infancy, Gastric ulcer, Generalized hirsutism, Global developmental delay, Hearing impairment, Hemangioma, High palate, High, narrow palate, Highly arched eyebrow, Hydronephrosis, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplastic fifth fingernail, Hypospadias, Hypotelorism, Hypotrichosis, Inguinal hernia, Intellectual disability, Intellectual disability, mild, Intestinal malrotation, Intrauterine growth retardation, Intussusception, Joint dislocation, Joint hyperflexibility, Joint laxity, Kyphosis, Long eyelashes, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Lumbosacral hirsutism, Malar flattening, Microcephaly, Muscular hypotonia, Mutism, Myopia, Narrow nasal bridge, Nystagmus, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Phenotypic variability, Plagiocephaly, Posteriorly rotated ears, Postnatal growth retardation, Preauricular skin tag, Prominent interphalangeal joints, Ptosis, Recurrent respiratory infections, Renal hypoplasia, Sacral dimple, Sandal gap, Scoliosis, Seizures, Sensorineural hearing impairment, Severe expressive language delay, Severe short stature, Short distal phalanx of finger, Short distal phalanx of the 5th finger, Short distal phalanx of the 5th toe, Short palm, Short palpebral fissure, Short stature, Short sternum, Single transverse palmar crease, Slow-growing hair, Smooth philtrum, Sparse scalp hair, Specific learning disability, Spina bifida occulta, Status epilepticus, Strabismus, Tetralogy of Fallot, Thick eyebrow, Thick lower lip vermilion, Thick nasal alae, Thin upper lip vermilion, Thin vermilion border, Triangular face, Umbilical hernia, Ventricular septal defect, Visual impairment, Wide intermamillary distance, Wide mouth, Wide nasal bridge
IN-STR	SCN3A	0.836008944	0.004975638	Voltage gated channel	BrainSpLMD|6328	OMIM|182391
IN-STR	PBX1	0.775986805	0.005151013	Transcription regulatory protein	BrainSpLMD|5087;BrainSpMouseDev|18280	OMIM|176310;COSMIC||pre B-ALL, myoepithelioma
IN-STR	TM9SF3	0.78943052	0.005162941	Membrane transport protein	BrainSpLMD|56889	OMIM|616872
IN-STR	TIPRL	0.511444152	0.005188968	Unclassified	BrainSpLMD|261726	OMIM|611807
IN-STR	ZNF37BP	0.807139207	0.005403291		BrainSpLMD|100129482	
IN-STR	ZCCHC7	0.767023342	0.005530798	DNA binding protein	BrainSpLMD|84186;Eurexp|euxassay_017848|mantle layer	
IN-STR	RFX7	0.60205961	0.005575189	Unclassified	BrainSpLMD|64864	OMIM|612660
IN-STR	CIR1	0.665725712	0.005603098	Transcription regulatory protein	BrainSpLMD|9541	OMIM|605228
IN-STR	SLU7	0.462736262	0.005766736	Unclassified	BrainSpLMD|10569	OMIM|605974
IN-STR	C5orf24	0.804678216	0.005857081	Unclassified	BrainSpLMD|134553	
IN-STR	LRRC58	0.877536068	0.005901827	Unclassified		
IN-STR	HNRNPUL1	0.259472694	0.005906851	RNA binding protein	BrainSpLMD|11100	OMIM|605800
IN-STR	TRIM33	0.682131774	0.005951996	Transcription regulatory protein	BrainSpLMD|51592;Eurexp|euxassay_018763|submandibular gland primordium	SFARI||Autism, No category;OMIM|605769;COSMIC||papillary thyroid;HPO|51592|Autosomal dominant inheritance, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma
IN-STR	MAP4K5	0.284262344	0.00598016	Serine/threonine kinase	BrainSpLMD|11183	OMIM|604923
IN-STR	CEBPZOS	0.826074781	0.005997235			
IN-STR	SYAP1	0.399716785	0.006175838	Transport/cargo protein	BrainSpLMD|94056;Eurexp|euxassay_000499|incisor	SFARI||Autism, No category
IN-STR	LRP6	0.517470782	0.006225386	Structural protein	BrainSpLMD|4040;Eurexp|euxassay_018221|lung, nasal septum, otic capsule, submandibular gland primordium, trachea, vibrissa;BrainSpMouseDev|16744	OMIM|603507;HPO|4040|Agenesis of permanent teeth, Autosomal dominant inheritance, Hypoplasia of the maxilla, Microdontia, Micrognathia, Oligodontia
IN-STR	ZZZ3	0.389546461	0.006313716	DNA binding protein	BrainSpLMD|26009	
IN-STR	ADIPOR1	0.265557175	0.006317042	Integral membrane protein	BrainSpLMD|51094	OMIM|607945
IN-STR	C7orf73	0.376873891	0.006330279			
IN-STR	GLOD4	0.493357638	0.006470916	Unclassified	BrainSpLMD|51031	
IN-STR	CXADR	0.453253867	0.006713018	Cell surface receptor	BrainSpLMD|1525;Eurexp|euxassay_012371|bladder, cochlea, cortex, endolymphatic duct, epidermis, epithelium, facial VII, glossopharyngeal IX, incisor, larynx, left lung, mantle layer, marginal layer, meninges, mesothelium, metanephros, midgut, molar, neural retina, olfactory, oral epithelium, pancreas, pharyngo-tympanic tube, primitive seminiferous tubules, rectum, right lung, stomach, trachea, trigeminal V, urogenital mesentery, utricle, vagus X, vestibulocochlear VIII, vibrissa	OMIM|602621
IN-STR	CBWD2	0.387067877	0.006844685	Unclassified		OMIM|611079
IN-STR	ODF2L	1.063731548	0.00694271	Unclassified	BrainSpLMD|57489	
IN-STR	ABCC5	0.692110003	0.007027033	Transport/cargo protein	BrainSpLMD|10057;Eurexp|euxassay_013680|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605251
IN-STR	RNF10	0.268489598	0.007042129	Ubiquitin proteasome system protein	BrainSpLMD|9921	OMIM|615998
IN-STR	ESF1	0.283654879	0.007084508	Unclassified	BrainSpLMD|51575	
IN-STR	TTC17	0.467053207	0.00725068	Unclassified	BrainSpLMD|55761	
IN-STR	UBE2W	0.632435736	0.007387716	Ubiquitin proteasome system protein	BrainSpLMD|55284	OMIM|614277
IN-STR	PFKM	0.76882753	0.007659579	Enzyme: Phosphotransferase	BrainSpLMD|5213;Eurexp|euxassay_018474|dorsal root ganglion, mantle layer, trigeminal V, vagus X, ventral grey horn, ventricular layer	OMIM|610681;HPO|5213|Anemia, Autosomal recessive inheritance, Cholelithiasis, Exercise intolerance, Exercise-induced muscle cramps, Exercise-induced myoglobinuria, Gout, Hemolytic anemia, Hyperuricemia, Increased muscle glycogen content, Increased total bilirubin, Jaundice, Muscle weakness, Myotonia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis, Skeletal muscle atrophy, Variable expressivity
IN-STR	SRP9P1	1.043167129	0.007677942			
IN-STR	TMEM209	0.49444894	0.007826667	Integral membrane protein	BrainSpLMD|84928;Eurexp|euxassay_004682|ventricular layer	
IN-STR	NAV3	0.254335887	0.00788017	Unclassified	BrainSpLMD|89795	OMIM|611629
IN-STR	USP42	0.356423398	0.007886434	Ubiquitin proteasome system protein		
IN-STR	PTBP2	0.370456309	0.007980074	RNA binding protein	BrainSpLMD|58155	SFARI||Autism, 4 - Minimal evidence;OMIM|608449
IN-STR	ROBO1	0.668706113	0.008099791	Adhesion molecule	BrainSpLMD|6091;Eurexp|euxassay_009691|adrenal gland, extrinsic ocular muscle, incisor, lip, mandible, mantle layer, metanephros, metatarsus, midgut, molar, nasal septum, palatal shelf, penis, phalanx, tarsus, turbinate bones, ventral grey horn, vibrissa;BrainSpMouseDev|19639	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602430
IN-STR	KPNA3	0.308671277	0.008117858	Transport/cargo protein	BrainSpLMD|3839	OMIM|601892
IN-STR	TRIM26	0.632650595	0.00812254	DNA binding protein	BrainSpLMD|7726	OMIM|600830
IN-STR	ARID4B	0.386620838	0.008272769	DNA binding protein	BrainSpLMD|51742	OMIM|609696
IN-STR	KRAS	0.693516694	0.008475449	GTPase	BrainSpLMD|3845	OMIM|190070;COSMIC||pancreatic, colorectal, lung, thyroid, AML, other tumour types;HPO|3845|Abdominal pain, Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of cardiovascular system morphology, Abnormality of coagulation, Abnormality of dental color, Abnormality of dental morphology, Abnormality of finger, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Abnormality of the spleen, Abnormality of the ulna, Abnormality of the ureter, Abnormality of toe, Abnormality of vision, Absent eyebrow, Absent septum pellucidum, Acute myeloid leukemia, Adenoma sebaceum, Aganglionic megacolon, Agenesis of corpus callosum, Alopecia, Alveolar cell carcinoma, Anteverted nares, Anxiety, Aphasia, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the skin, Arrhythmia, Asymmetric growth, Atrial septal defect, Atrial septal dilatation, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Basal cell carcinoma, Biparietal narrowing, Blepharophimosis, Bone cyst, Brachydactyly, Breast carcinoma, Brittle hair, Broad forehead, Capillary hemangiomas, Cavernous hemangioma, Cerebral calcification, Cerebral cortical atrophy, Chronic atrophic gastritis, Coarctation of aorta, Coarse facial features, Coarse hair, Coloboma, Colon cancer, Constipation, Corneal opacity, Cranial asymmetry, Craniofacial hyperostosis, Cryptorchidism, Curly hair, Cystic hygroma, Death in early adulthood, Death in infancy, Deep palmar crease, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Downslanted palpebral fissures, Dry skin, Dysarthria, Dysphasia, Dystrophic fingernails, EEG abnormality, Echolalia, Enlarged thorax, Epibulbar dermoid, Epicanthus, Excessive wrinkled skin, Facial asymmetry, Failure to thrive, Failure to thrive in infancy, Fatigue, Feeding difficulties, Feeding difficulties in infancy, Fine hair, Frontal bossing, Full cheeks, Gastrointestinal hemorrhage, Generalized hyperpigmentation, Genu recurvatum, Glioblastoma, Global developmental delay, Growth delay, Hearing impairment, Hemangioma, Hemimegalencephaly, Hepatomegaly, Heterogeneous, High forehead, High palate, Horseshoe kidney, Hyperextensible skin, Hyperreflexia, Hypertelorism, Hypertonia, Hypogonadotrophic hypogonadism, Hypophosphatemic rickets, Hypopigmentation of the skin, Hypoplasia of the zygomatic bone, Ichthyosis, Increased intracranial pressure, Intellectual disability, Iris coloboma, Irregular hyperpigmentation, Irritability, Joint hyperflexibility, Juvenile myelomonocytic leukemia, Kyphoscoliosis, Laryngeal hypoplasia, Lipodystrophy, Long face, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Malabsorption, Melanocytic nevus, Micrognathia, Microphthalmia, Midface retrusion, Migraine, Mitral valve prolapse, Multiple cafe-au-lait spots, Multiple lentigines, Multiple lipomas, Muscle stiffness, Muscle weakness, Muscular hypotonia, Mutism, Myopia, Nausea and vomiting, Neoplasm of the pancreas, Neoplasm of the rectum, Neoplasm of the skeletal system, Nevus flammeus, Nevus sebaceous, Nystagmus, Osteolysis, Osteopenia, Overgrowth, Palmoplantar keratoderma, Pectus carinatum, Pectus excavatum, Peripheral axonal neuropathy, Plagiocephaly, Polyhydramnios, Porencephalic cyst, Posteriorly rotated ears, Premature birth, Prominent occiput, Proptosis, Ptosis, Pulmonary arterial hypertension, Pulmonary artery stenosis, Pulmonic stenosis, Recurrent fractures, Reduced tendon reflexes, Retinopathy, Rigidity, Sagittal craniosynostosis, Scoliosis, Seizures, Short neck, Short nose, Short palm, Short palpebral fissure, Short stature, Slow-growing hair, Somatic mosaicism, Somatic mutation, Sparse hair, Sparse or absent eyelashes, Spasticity, Sporadic, Stomach cancer, Strabismus, Subcortical cerebral atrophy, Subcutaneous nodule, Telecanthus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Transitional cell carcinoma of the bladder, Triangular face, Tricuspid valve prolapse, Underdeveloped supraorbital ridges, Ventricular septal defect, Ventriculomegaly, Vertebral segmentation defect, Visceral angiomatosis, Webbed neck, Weight loss, Wide intermamillary distance, Xanthomatosis
IN-STR	SCG5	1.041332076	0.008674351	Chaperone	BrainSpLMD|6447;Eurexp|euxassay_007348|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, oesophagus, olfactory, pituitary, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20157	OMIM|173120
IN-STR	CMC2	0.384092568	0.008767527	Unclassified	BrainSpLMD|56942	
IN-STR	BLOC1S6	0.519894435	0.0089067	Unclassified	BrainSpLMD|26258;Eurexp|euxassay_001468|brain, spinal cord, thoracic;BrainSpMouseDev|18223	OMIM|604310;HPO|26258|Autosomal recessive inheritance, Congenital nystagmus, Hypopigmentation of the fundus, Hypopigmentation of the skin, Leukopenia, Nystagmus, Ocular albinism, Thrombocytopenia
IN-STR	ATP8A1	0.923447172	0.009002724	ATPase	BrainSpLMD|10396;Eurexp|euxassay_018768|anterior, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, neural retina, olfactory, rectum, right lung, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|11766	SFARI||Autism, 5 - Hypothesized but untested;OMIM|609542
IN-STR	CLNS1A	0.388255319	0.009006653	Transport/cargo protein	BrainSpLMD|1207	OMIM|602158
IN-STR	ZRANB2	0.513339417	0.009082592	RNA binding protein	BrainSpLMD|9406	OMIM|604347
IN-STR	PRKD3	0.723441427	0.00924515	Serine/threonine kinase	BrainSpLMD|23683	OMIM|607077
IN-STR	EIF1AD	0.380047183	0.009609146	Unclassified	BrainSpLMD|84285	
IN-STR	ATPIF1	0.540905369	0.009663262			
IN-CTX-CGE1	SP8	2.583966934	0	Transcription factor	BrainSpLMD|221833;BrainSpMouseDev|107080	OMIM|608306
IN-CTX-CGE1	THRB	2.524084753	0	Nuclear receptor	BrainSpLMD|7068;Eurexp|euxassay_005806|adenohypophysis, vestibulocochlear VIII;BrainSpMouseDev|21593	OMIM|190160;HPO|7068|Abdominal distention, Abnormality of the thyroid gland, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Coarse facial features, Constipation, Convex nasal ridge, Delayed skeletal maturation, Delayed speech and language development, Epiphyseal stippling, Feeding difficulties, Goiter, Hearing impairment, Hyperthyroidism, Hypothyroidism, Increased serum free triiodothyronine, Increased thyroid-stimulating hormone level, Jaundice, Large fontanelles, Macroglossia, Muscular hypotonia, Pectus carinatum, Proptosis, Sensorineural hearing impairment, Sleep disturbance, Small for gestational age, Sprengel anomaly, Thyroid hormone receptor defect, Umbilical hernia
IN-CTX-CGE1	SCGN	2.487089975	0	Calcium binding protein	BrainSpLMD|10590;Eurexp|euxassay_002978|mantle layer, marginal layer, pancreas, pituitary	OMIM|609202
IN-CTX-CGE1	PDZRN3	2.322794457	0	Unclassified	BrainSpLMD|23024;Eurexp|euxassay_000356|mantle layer	OMIM|609729
IN-CTX-CGE1	RP11.351J23.1	2.278708678	0			
IN-CTX-CGE1	PRKCA	2.150922123	0	Serine/threonine kinase	BrainSpLMD|5578	OMIM|176960
IN-CTX-CGE1	DLX6.AS1	1.87179703	0			
IN-CTX-CGE1	DLX5	1.842311827	0	Transcription regulatory protein	BrainSpLMD|1749;BrainSpMouseDev|13174	OMIM|600028;HPO|1749|Autosomal recessive inheritance, Finger syndactyly, Oligodactyly, Sensorineural hearing impairment, Split foot, Split hand
IN-CTX-CGE1	DLX1	1.841161926	0	Transcription factor	BrainSpLMD|1745;Eurexp|euxassay_008426|cochlea, epithelium, footplate, handplate, incisor, inner ear, mantle layer, midgut, naso-lacrimal duct, neural retina, oesophagus, paraxial mesenchyme, retina, skeletal muscle, skeleton, stomach, utricle, vibrissa;BrainSpMouseDev|13169	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600029
IN-CTX-CGE1	ST8SIA5	1.78776901	0	Enzyme: Sialyltransferase	BrainSpLMD|29906	OMIM|607162
IN-CTX-CGE1	PCDH9	1.610247484	0	Adhesion molecule	BrainSpLMD|5101;Eurexp|euxassay_014258|facial VII, mantle layer, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|603581
IN-CTX-CGE1	FAM65B	1.420410185	0			
IN-CTX-CGE1	SOX2.OT	1.412732199	0			
IN-CTX-CGE1	ERBB4	1.347708345	0	Receptor tyrosine kinase	BrainSpLMD|2066;Eurexp|euxassay_008088|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|13647	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600543;COSMIC||melanoma, gastric, NSCLC, Amyotrophic lateral sclerosis 19;HPO|2066|Adult onset, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Loss of ability to walk, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Xerostomia
IN-CTX-CGE1	DLX2	1.339695226	0	Transcription factor	BrainSpLMD|1746;BrainSpMouseDev|13171	SFARI||Autism, 4 - Minimal evidence;OMIM|126255
IN-CTX-CGE1	SLAIN1	1.263739529	0	Unclassified	BrainSpLMD|122060	OMIM|610491
IN-CTX-CGE1	RP11.588P7.1	1.256900287	0			
IN-CTX-CGE1	CALM2P3	1.162023478	0			
IN-CTX-CGE1	CCDC88A	1.145544047	0	Cytoskeletal protein	BrainSpLMD|55704;Eurexp|euxassay_012890|mantle layer, ventral grey horn	OMIM|609736;HPO|55704|Abnormality of the hand, Autosomal recessive inheritance, Cerebellar atrophy, Developmental stagnation, Edema, Epicanthus, Feeding difficulties in infancy, Full cheeks, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile encephalopathy, Intellectual disability, profound, Myoclonus, Narrow forehead, Neuronal loss in central nervous system, Open mouth, Optic atrophy, Pachygyria, Peripheral dysmyelination, Polymicrogyria, Progressive microcephaly, Retrognathia, Seizures, Severe muscular hypotonia, Short nose, Tented upper lip vermilion, Undetectable visual evoked potentials
IN-CTX-CGE1	NRXN3	1.086830288	0	Adhesion molecule	BrainSpLMD|9369;Eurexp|euxassay_009777|bladder, collecting ducts, inner ear, mantle layer, marginal layer, neural retina, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|600567
IN-CTX-CGE1	GAD1	0.906627593	0	Enzyme: Decarboxylase	BrainSpLMD|2571;Eurexp|euxassay_005634|cerebral cortex, corpus striatum, hindbrain, incisor, mantle layer, marginal layer, molar, olfactory lobe, oral region, spinal cord, telencephalon;BrainSpMouseDev|14191	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605363;HPO|2571|Autosomal recessive inheritance, Babinski sign, Cerebral palsy, Flexion contracture, Global developmental delay, Heterogeneous, Hyperreflexia, Infantile onset, Intellectual disability, Microcephaly, Scoliosis, Seizures, Spastic diplegia, Spastic tetraplegia
IN-CTX-CGE1	SOX4	0.504579849	0	Transcription factor	BrainSpLMD|6659;Eurexp|euxassay_019583|cervical, cervico-thoracic, dorsal grey horn, dorsal root ganglion, incisor, lung, mantle layer, mesenchyme, metanephros, molar, neural retina, oesophagus, phalanx, submandibular gland primordium, testis, trachea, valve, vibrissa;BrainSpMouseDev|20439	OMIM|184430
IN-CTX-CGE1	SOX11	0.278656499	0	Transcription factor	BrainSpLMD|6664;BrainSpMouseDev|20428	OMIM|600898;HPO|6664|Abnormal facial shape, Abnormality of cardiovascular system morphology, Abnormality of the columella, Abnormality of the dentition, Abnormality of the nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Autosomal dominant inheritance, Clinodactyly, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Everted lower lip vermilion, Feeding difficulties in infancy, Full cheeks, Generalized hirsutism, Global developmental delay, Hearing impairment, Highly arched eyebrow, Hypertrichosis, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Long nose, Low-set ears, Microcephaly, Midface retrusion, Muscular hypotonia, Nystagmus, Open mouth, Posteriorly rotated ears, Recurrent respiratory infections, Scoliosis, Seizures, Short chin, Short distal phalanx of finger, Short nose, Short palpebral fissure, Short philtrum, Short stature, Slow-growing hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick vermilion border, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Wide mouth, Wide nasal bridge
IN-CTX-CGE1	DLX6	1.292576413	2.22E-16	Transcription factor	BrainSpLMD|1750;BrainSpMouseDev|13175	SFARI||Autism, 4 - Minimal evidence;OMIM|600030;HPO|1750|Finger syndactyly, Oligodactyly
IN-CTX-CGE1	MTSS1	1.137711847	1.11E-15	Cytoskeletal associated protein	BrainSpLMD|9788	OMIM|608486
IN-CTX-CGE1	SP9	0.454618172	2.22E-15		BrainSpLMD|100131390;BrainSpMouseDev|120188	
IN-CTX-CGE1	DCX	0.605732884	2.33E-15	Cytoskeletal associated protein	BrainSpLMD|1641;Eurexp|euxassay_018537|brain, capsule, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|12973	SFARI||Autism, No category;OMIM|300121;HPO|1641|Agenesis of corpus callosum, Ataxia, Death in infancy, Dysarthria, Feeding difficulties, Hypertonia, Incomplete penetrance, Infantile onset, Intellectual disability, Intellectual disability, severe, Lissencephaly, Micropenis, Motor delay, Muscular hypotonia, Muscular hypotonia of the trunk, Nystagmus, Pachygyria, Postnatal growth retardation, Seizures, X-linked inheritance
IN-CTX-CGE1	GAS2L3	1.627816004	9.21E-15	Cytoskeletal protein	BrainSpLMD|283431	OMIM|617224
IN-CTX-CGE1	MEG3	0.870167388	1.32E-14			OMIM|605636
IN-CTX-CGE1	RND3	1.111727747	2.42E-14	G protein	BrainSpLMD|390	OMIM|602924
IN-CTX-CGE1	DCLK2	0.744995433	9.00E-14	Serine/threonine kinase	BrainSpLMD|166614;Eurexp|euxassay_009796|associated mesenchyme, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nasal cavity, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613166
IN-CTX-CGE1	CELF4	0.754397424	1.08E-13	RNA binding protein	BrainSpLMD|56853;Eurexp|euxassay_009241|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|612679
IN-CTX-CGE1	SDK2	1.781037477	1.36E-13	Adhesion molecule	BrainSpLMD|54549;Eurexp|euxassay_009454|clavicle, femur, mantle layer, tongue, ventral grey horn, ventricular layer	OMIM|607217
IN-CTX-CGE1	KITLG	1.491501602	6.23E-13	Growth factor	BrainSpLMD|4254;Eurexp|euxassay_003584|dorsal root ganglion, glomeruli, mantle layer, marginal layer, naris, neural retina, olfactory, olfactory cortex, stroma, thymus primordium, trachea, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|17080	OMIM|184745;HPO|4254|Autosomal dominant inheritance, Cafe-au-lait spot, Heterochromia iridis, Hyperkeratosis, Hypopigmented skin patches, Infantile onset, Multiple lentigines, Premature graying of hair, Progressive hyperpigmentation, Sensorineural hearing impairment, White forelock
IN-CTX-CGE1	PROX1	1.357731499	1.93E-12	Transcription factor	BrainSpLMD|5629;Eurexp|euxassay_004159|cardiovascular system, lens, liver, mantle layer, marginal layer, mesenchyme, pancreas, ventricle, ventricular layer;BrainSpMouseDev|18893	OMIM|601546
IN-CTX-CGE1	ZNF704	1.19346105	1.95E-12	Unclassified		
IN-CTX-CGE1	NR2F2	1.223805518	6.44E-12	Nuclear receptor	BrainSpLMD|7026;Eurexp|euxassay_018442|cortex, ductus deferens, extrinsic ocular muscle, incisor, lip, lung, mantle layer, metanephros, metatarsus, molar, oesophagus, stomach, submandibular gland primordium, tongue, trachea, trigeminal V, turbinate bones, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|11606	OMIM|107773;HPO|7026|Aortic valve stenosis, Atrioventricular canal defect, Autosomal dominant inheritance, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect
IN-CTX-CGE1	GAD2	1.426627805	7.13E-12	Enzyme: Decarboxylase	BrainSpLMD|2572;Eurexp|euxassay_001769|dorsal grey horn, lateral ventricle, mantle layer;BrainSpMouseDev|14193	OMIM|138275
IN-CTX-CGE1	MINOS1	0.957793063	1.73E-11	Unclassified		OMIM|616574
IN-CTX-CGE1	TCF4	0.783818112	2.74E-11	Transcription factor	BrainSpLMD|6925;BrainSpMouseDev|21174	SFARI||Autism, No category;OMIM|602272;HPO|6925|Abnormal large intestine physiology, Abnormality of the palate, Absent speech, Aggressive behavior, Anteverted nares, Aphasia, Ascites, Astigmatism, Ataxia, Autoimmunity, Autosomal dominant inheritance, Cirrhosis, Clinodactyly, Clubbing, Coarse facial features, Constipation, Cryptorchidism, Cupped ear, Deeply set eye, Dilated superficial abdominal veins, Dysautonomia, Dysphasia, Echolalia, Elevated alkaline phosphatase of hepatic origin, Elevated hepatic transaminases, Encephalopathy, Esophagitis, Failure of eruption of permanent teeth, Failure to thrive, Feeding difficulties, Fever, Full cheeks, Gait ataxia, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Hepatosplenomegaly, Hiatus hernia, Hypoplasia of the corpus callosum, Incoordination, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intermittent hyperventilation, Microcephaly, Micropenis, Misalignment of teeth, Motor delay, Muscular hypotonia, Mutism, Myopia, Narrow foot, Narrow forehead, Open mouth, Palmar telangiectasia, Pes planus, Pes valgus, Portal hypertension, Seizures, Short neck, Short philtrum, Single transverse palmar crease, Sleep apnea, Specific learning disability, Spider hemangioma, Splenomegaly, Strabismus, Tapered finger, Thick vermilion border, Thickened helices, Ulcerative colitis, Upslanted palpebral fissure, Weight loss, Wide mouth, Wide nasal bridge, Widely spaced teeth
IN-CTX-CGE1	SLIT1	1.161409246	6.18E-11	Ligand	BrainSpLMD|6585;BrainSpMouseDev|20324	OMIM|603742
IN-CTX-CGE1	ARID1B	0.947143586	2.47E-10	Transcription factor	BrainSpLMD|57492	SFARI||Autism, 1 - High confidence;OMIM|614556;COSMIC||breast, hepatocellular carcinoma;HPO|57492|Abnormal hair pattern, Abnormality of cardiovascular system morphology, Abnormality of the dentition, Abnormality of the metacarpal bones, Abnormality of the pinna, Abnormality of vision, Absence seizures, Agenesis of corpus callosum, Aggressive behavior, Alopecia, Anteverted nares, Aphasia, Aplasia of the uterus, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Astigmatism, Atrial septal defect, Autistic behavior, Autosomal dominant inheritance, Autosomal recessive inheritance, Blepharophimosis, Brachydactyly, Broad distal phalanx of finger, Broad nasal tip, Bulbous nose, Choanal atresia, Cleft palate, Clubbing of toes, Coarse facial features, Congenital diaphragmatic hernia, Coxa valga, Cryptorchidism, Curly eyelashes, Cutis marmorata, Dandy-Walker malformation, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Depressed nasal ridge, Dislocated radial head, Downslanted palpebral fissures, Duodenal ulcer, Dysphasia, Echolalia, Ectopic kidney, Eczema, Elbow dislocation, Epicanthus, Epileptic spasms, Everted lower lip vermilion, Excessive wrinkled skin, Facial hypertrichosis, Failure to thrive, Feeding difficulties in infancy, Gastric ulcer, Generalized hirsutism, Global developmental delay, Hearing impairment, Hemangioma, High palate, High, narrow palate, Highly arched eyebrow, Hydronephrosis, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplastic fifth fingernail, Hypospadias, Hypotelorism, Hypotrichosis, Inguinal hernia, Intellectual disability, Intellectual disability, mild, Intestinal malrotation, Intrauterine growth retardation, Intussusception, Joint dislocation, Joint hyperflexibility, Joint laxity, Kyphosis, Long eyelashes, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Lumbosacral hirsutism, Malar flattening, Microcephaly, Muscular hypotonia, Mutism, Myopia, Narrow nasal bridge, Nystagmus, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Phenotypic variability, Plagiocephaly, Posteriorly rotated ears, Postnatal growth retardation, Preauricular skin tag, Prominent interphalangeal joints, Ptosis, Recurrent respiratory infections, Renal hypoplasia, Sacral dimple, Sandal gap, Scoliosis, Seizures, Sensorineural hearing impairment, Severe expressive language delay, Severe short stature, Short distal phalanx of finger, Short distal phalanx of the 5th finger, Short distal phalanx of the 5th toe, Short palm, Short palpebral fissure, Short stature, Short sternum, Single transverse palmar crease, Slow-growing hair, Smooth philtrum, Sparse scalp hair, Specific learning disability, Spina bifida occulta, Status epilepticus, Strabismus, Tetralogy of Fallot, Thick eyebrow, Thick lower lip vermilion, Thick nasal alae, Thin upper lip vermilion, Thin vermilion border, Triangular face, Umbilical hernia, Ventricular septal defect, Visual impairment, Wide intermamillary distance, Wide mouth, Wide nasal bridge
IN-CTX-CGE1	PFN2	0.812219988	2.60E-10	Structural protein	BrainSpLMD|5217;Eurexp|euxassay_002518|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|176590
IN-CTX-CGE1	PLCB1	0.273305557	4.84E-10	Enzyme: Phospholipase	BrainSpLMD|23236	SFARI||Autism, 3 - Suggestive evidence;OMIM|607120;HPO|23236|Abnormality of skin morphology, Autosomal recessive inheritance, Developmental regression, Epileptic encephalopathy, Focal seizures, Generalized seizures, Hyperreflexia, Hypsarrhythmia, Infantile spasms, Muscular hypotonia of the trunk, Myoclonus, Spasticity
IN-CTX-CGE1	RPL23P8	0.911573493	6.24E-10			
IN-CTX-CGE1	PLS3	0.673624097	1.04E-09	Structural protein	BrainSpLMD|5358	OMIM|300131;HPO|5358|Osteopenia, Osteoporosis, Vertebral compression fractures, X-linked dominant inheritance
IN-CTX-CGE1	SNRPGP10	2.296600876	4.69E-09			
IN-CTX-CGE1	INA	1.132431166	6.44E-09	Cytoskeletal protein	BrainSpLMD|9118;Eurexp|euxassay_012424|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|605338
IN-CTX-CGE1	ARX	1.032126693	8.21E-09	Transcription factor	BrainSpLMD|170302;Eurexp|euxassay_018148|floor plate, floorplate, mantle layer, mesenchyme, ovary, pancreas, paramesonephric duct, skeletal muscle, tarsus, ventricle, ventricular layer;BrainSpMouseDev|11665	SFARI||Autism, No category;OMIM|300382;HPO|170302|Abnormal hair pattern, Abnormality of skin morphology, Abnormality of the hip bone, Agenesis of corpus callosum, Ambiguous genitalia, Broad alveolar ridges, Choreoathetosis, Coarse facial features, Cryptorchidism, Death in infancy, Decreased testicular size, Delayed speech and language development, Developmental regression, Diarrhea, Duane anomaly, Dysarthria, Dysphagia, Dyspnea, Dystonia, EEG abnormality, Epileptic encephalopathy, Feeding difficulties in infancy, Flexion contracture, Focal dystonia, Generalized hirsutism, Generalized hypotonia, Generalized myoclonic seizures, Gliosis, Global developmental delay, Hemiplegia, High forehead, High palate, Hirsutism, Hyperconvex nail, Hyperreflexia, Hypohidrosis, Hypoplasia of penis, Hypospadias, Hypsarrhythmia, Infantile spasms, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Large eyes, Limb dystonia, Limb joint contracture, Lissencephaly, Long philtrum, Long upper lip, Low anterior hairline, Low-set ears, Lower limb spasticity, Malabsorption, Microcephaly, Micrognathia, Micropenis, Muscle stiffness, Muscular hypotonia, Muscular hypotonia of the trunk, Myoclonus, Neonatal hypotonia, Nystagmus, Optic atrophy, Overlapping toe, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Prominent supraorbital ridges, Protruding ear, Renal dysplasia, Rigidity, Scoliosis, Seizures, Severe global developmental delay, Short stature, Spastic tetraplegia, Spasticity, Specific learning disability, Status epilepticus, Strabismus, Synophrys, Tapered finger, Tetraplegia, Thin upper lip vermilion, Triangular face, Ventriculomegaly, Visual impairment, Wide anterior fontanel, Wide nasal bridge, X-linked inheritance, X-linked recessive inheritance
IN-CTX-CGE1	UQCR11	0.696252831	2.09E-08	Enzyme: Reductase	BrainSpLMD|10975	OMIM|609711
IN-CTX-CGE1	EIF4G3	0.304688553	3.97E-08	Translation regulatory protein	BrainSpLMD|8672;Eurexp|euxassay_016776|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII	OMIM|603929
IN-CTX-CGE1	ZEB2	0.456433774	7.34E-08	Transcription regulatory protein	BrainSpLMD|9839;Eurexp|euxassay_005774|bladder, dorsal grey horn, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, lung, mantle layer, metanephros, midgut, nasal septum, penis, pharyngo-tympanic tube, stomach;BrainSpMouseDev|23887	OMIM|605802;HPO|9839|Abdominal distention, Abnormality of metabolism/homeostasis, Abnormality of the abdominal wall, Abnormality of the rib cage, Absent speech, Atrial septal defect, Autosomal dominant inheritance, Broad eyebrow, Delayed eruption of teeth, Drooling, Generalized hypotonia, Happy demeanor, Hypoplasia of the corpus callosum, Intellectual disability, moderate, Motor delay, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pulmonary artery sling, Pulmonary artery stenosis, Pulmonic stenosis, Supernumerary nipple, Ventricular septal defect, Vomiting, Widely spaced teeth
IN-CTX-CGE1	ABCF1	0.2540468	8.02E-08	Translation regulatory protein	BrainSpLMD|23;Eurexp|euxassay_007589|embryo	OMIM|603429
IN-CTX-CGE1	SEPT7P6	1.349629074	1.01E-07			
IN-CTX-CGE1	RP11.175B9.3	1.021793828	1.03E-07			
IN-CTX-CGE1	C2orf68	0.772201267	1.39E-07	Unclassified		
IN-CTX-CGE1	TMEM123	0.449482527	1.58E-07	Cell surface receptor	BrainSpLMD|114908	OMIM|606356
IN-CTX-CGE1	CITED2	0.480186441	1.59E-07	Transcription regulatory protein	BrainSpLMD|10370;BrainSpMouseDev|17451	OMIM|602937;HPO|10370|Abnormal nasal morphology, Atrial septal defect, Autosomal dominant inheritance, Brachydactyly, Broad forehead, Clinodactyly of the 5th finger, Cryptorchidism, Dolichocephaly, Intrauterine growth retardation, Perimembranous ventricular septal defect, Preauricular pit, Proptosis, Tetralogy of Fallot, Thin vermilion border, Underdeveloped supraorbital ridges
IN-CTX-CGE1	ANAPC11	0.35312486	2.02E-07	Enzyme: Ligase	BrainSpLMD|51529	OMIM|614534
IN-CTX-CGE1	CDV3	0.384243453	4.23E-07	Unclassified	BrainSpLMD|55573	
IN-CTX-CGE1	ATP5I	0.29419716	5.51E-07			
IN-CTX-CGE1	PAIP1	0.327096093	6.20E-07	Translation regulatory protein	BrainSpLMD|10605	OMIM|605184
IN-CTX-CGE1	NMT2	0.266345001	7.56E-07	Enzyme: Transferase	BrainSpLMD|9397	OMIM|603801
IN-CTX-CGE1	LRRC1	1.37911994	8.16E-07	Unclassified	BrainSpLMD|55227	SFARI||Autism, 4 - Minimal evidence;OMIM|608195
IN-CTX-CGE1	POU2F1	1.110876503	9.47E-07	Transcription factor	BrainSpLMD|5451;BrainSpMouseDev|18749	OMIM|164175
IN-CTX-CGE1	NF1	0.365332536	1.41E-06	GTPase activating protein	BrainSpLMD|4763;Eurexp|euxassay_012186|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X;BrainSpMouseDev|17782	SFARI||Autism, No category;OMIM|613113;COSMIC||neurofibroma, glioma, neurofibroma, glioma;HPO|4763|Abdominal wall muscle weakness, Abnormality of the cardiovascular system, Abnormality of the helix, Abnormality of the lymphatic system, Abnormality of the thorax, Astrocytoma, Autosomal dominant inheritance, Axillary freckling, Cafe-au-lait spot, Cryptorchidism, Cubitus valgus, Delayed speech and language development, Depressed nasal bridge, Downslanted palpebral fissures, Dysphagia, Epicanthus, Freckling, Global developmental delay, Hydrocephalus, Hypertelorism, Hypertension, Hypertrophic cardiomyopathy, Hypoplasia of dental enamel, Inguinal freckling, Intellectual disability, Intellectual disability, mild, Juvenile myelomonocytic leukemia, Lisch nodules, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Lower limb muscle weakness, Macrocephaly, Malar flattening, Microcephaly, Midface retrusion, Multiple cafe-au-lait spots, Muscle weakness, Neurofibromas, Neurofibrosarcoma, Optic glioma, Overgrowth, Paraparesis, Parathyroid adenoma, Pectus excavatum of inferior sternum, Posteriorly rotated ears, Prolonged bleeding time, Prominent nasolabial fold, Ptosis, Pulmonic stenosis, Relative macrocephaly, Rhabdomyosarcoma, Scoliosis, Secundum atrial septal defect, Short neck, Short stature, Somatic mutation, Specific learning disability, Spina bifida, Spinal cord tumor, Superior pectus carinatum, Symmetric spinal nerve root neurofibromas, Webbed neck
IN-CTX-CGE1	CSMD3	1.294123537	1.44E-06	Integral membrane protein	BrainSpLMD|114788;Eurexp|euxassay_013996|mantle layer, tegmentum, ventricle	OMIM|608399;COSMIC||ovarian cancer, oral SCC, lung cancer
IN-CTX-CGE1	BDP1	0.309463723	1.74E-06	Transcription factor	BrainSpLMD|55814;Eurexp|euxassay_019513|dorsal root ganglion, incisor, lung, midgut, nucleus pulposus, submandibular gland primordium, vibrissa	OMIM|607012
IN-CTX-CGE1	GOLGA4	0.349508907	2.00E-06	Transport/cargo protein	BrainSpLMD|2803	OMIM|602509
IN-CTX-CGE1	EIF3LP2	0.55718763	2.19E-06			
IN-CTX-CGE1	RP11.267J23.4	0.385980295	2.51E-06			
IN-CTX-CGE1	AGO2	0.380143869	3.22E-06	Translation regulatory protein	BrainSpLMD|27161	OMIM|606229
IN-CTX-CGE1	PDE4DIP	0.946070065	3.24E-06	Transport/cargo protein	BrainSpLMD|9659;Eurexp|euxassay_015920|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|608117;COSMIC||MPN
IN-CTX-CGE1	SLMO2	0.251205451	3.28E-06			
IN-CTX-CGE1	PPP1R12B	1.308290984	3.30E-06	Regulatory/other subunit	BrainSpLMD|4660	OMIM|603768
IN-CTX-CGE1	RBP1	0.983537	3.44E-06	Transport/cargo protein	BrainSpLMD|5947;Eurexp|euxassay_003315|brain, corpus striatum, forelimb, hindbrain, hindlimb, mantle layer, midgut, olfactory lobe, telencephalon, turbinate bones	OMIM|180260
IN-CTX-CGE1	CH17.472G23.4	0.921314299	3.82E-06			
IN-CTX-CGE1	ZCCHC17	0.754808434	3.95E-06	RNA binding protein	BrainSpLMD|51538	
IN-CTX-CGE1	H3F3C	0.348887351	4.33E-06	Unclassified		OMIM|616134
IN-CTX-CGE1	HIPK1	0.360153877	4.49E-06	Serine/threonine kinase	BrainSpLMD|204851	OMIM|608003
IN-CTX-CGE1	NCL	0.258483949	4.58E-06	RNA binding protein	BrainSpLMD|4691;Eurexp|euxassay_007121|embryo	OMIM|164035
IN-CTX-CGE1	PSMD14	0.595657052	4.69E-06	Ubiquitin proteasome system protein	BrainSpLMD|10213	OMIM|607173
IN-CTX-CGE1	CHD7	0.734454932	5.45E-06	DNA binding protein	Eurexp|euxassay_010758|marginal layer, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|608892;HPO|55636|Abnormality of body height, Abnormality of female internal genitalia, Abnormality of lymphocytes, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Alopecia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bifid scrotum, Breast hypoplasia, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Desquamation of skin soon after birth, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysphagia, Edema, Eosinophilia, Erectile abnormalities, Erythroderma, Esophageal atresia, Eunuchoid habitus, External ear malformation, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Female hypogonadism, Fever, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Hepatomegaly, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphopenia, Malar flattening, Male hypogonadism, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Non-obstructive azoospermia, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Pneumonia, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Secondary amenorrhea, Sensorineural hearing impairment, Severe combined immunodeficiency, Sparse body hair, Splenomegaly, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Thickened skin, Tracheoesophageal fistula, Umbilical hernia, Ventricular septal defect, Wide intermamillary distance
IN-CTX-CGE1	ATF7IP	0.564588513	6.13E-06	Transcription regulatory protein	BrainSpLMD|55729	OMIM|613644
IN-CTX-CGE1	FAM96B	0.420551317	6.27E-06	Unclassified	BrainSpLMD|51647	OMIM|614778
IN-CTX-CGE1	MAGI1	0.844288518	7.09E-06	Cell junction protein	BrainSpLMD|9223;Eurexp|euxassay_016214|axial skeleton, clavicle, femur, fibula, humerus, pelvic girdle, rib, scapula, tibia	OMIM|602625
IN-CTX-CGE1	CACYBP	0.687150048	7.24E-06	Ubiquitin proteasome system protein	BrainSpLMD|27101;Eurexp|euxassay_006213|brain, cervical, cervico-thoracic, cortex, diencephalon, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, left, mandible, maxilla, midbrain, molar, olfactory, orbito-sphenoid, right, spinal cord, submandibular gland primordium, telencephalon, thoracic, thymus primordium, trigeminal V, vertebral axis muscle system, vibrissa	OMIM|606186
IN-CTX-CGE1	CDC37	0.471809289	7.55E-06	Chaperone	BrainSpLMD|11140	OMIM|605065
IN-CTX-CGE1	KIAA0020	0.412039354	8.40E-06			
IN-CTX-CGE1	SNAPIN	0.325075898	9.28E-06	Membrane transport protein	BrainSpLMD|23557	OMIM|607007
IN-CTX-CGE1	EEA1	1.021698237	1.10E-05	Membrane transport protein	BrainSpLMD|8411	OMIM|605070
IN-CTX-CGE1	GOLGA7	0.556085605	1.14E-05	Integral membrane protein	BrainSpLMD|51125	OMIM|609453
IN-CTX-CGE1	RBX1	0.338260364	1.32E-05	Ubiquitin proteasome system protein	BrainSpLMD|9978	OMIM|603814
IN-CTX-CGE1	MDH2	0.296200913	1.39E-05	Enzyme: Dehydrogenase	BrainSpLMD|4191;BrainSpMouseDev|17216	OMIM|154100;HPO|4191|Absent speech, Autosomal recessive inheritance, Cerebellar atrophy, Constipation, Delayed myelination, Epileptic encephalopathy, Failure to thrive, Feeding difficulties, Global developmental delay, Hypoplasia of the corpus callosum, Inability to walk, Increased CSF lactate, Increased serum lactate, Poor head control, Seizures, Skeletal muscle atrophy, Strabismus
IN-CTX-CGE1	SLC6A1	1.044298939	1.44E-05	Membrane transport protein	BrainSpLMD|6529;Eurexp|euxassay_018302|brain, glossopharyngeal IX, marginal layer, neural retina, spinal cord, vestibulocochlear VIII;BrainSpMouseDev|87401	SFARI||Autism, 2 - Strong candidate;OMIM|137165;HPO|6529|Abnormal brain FDG positron emission tomography, Absence seizures, Ataxia, Atonic seizures, Autosomal dominant inheritance, Developmental regression, Dysarthria, EEG with abnormally slow frequencies, EEG with spike-wave complexes (>3.5 Hz), Epileptic encephalopathy, Eyelid myoclonus, Intellectual disability, Mental deterioration, Myoclonic atonic seizures, Status epilepticus
IN-CTX-CGE1	VPS72	0.791102144	1.56E-05	Transcription factor	BrainSpLMD|6944	OMIM|600607
IN-CTX-CGE1	GABARAPL2	0.342125775	1.61E-05	Transport/cargo protein	BrainSpLMD|11345	OMIM|607452
IN-CTX-CGE1	TNKS2	0.507940947	1.85E-05	Enzyme: Ribosyltransferase	BrainSpLMD|80351;Eurexp|euxassay_008543|vibrissa	OMIM|607128
IN-CTX-CGE1	TCEAL2	0.510911675	1.92E-05	Transcription regulatory protein	BrainSpLMD|140597	
IN-CTX-CGE1	HNRNPA3	0.451261597	2.11E-05	Ribonucleoprotein		OMIM|605372
IN-CTX-CGE1	PCBP2	0.281036798	2.17E-05	RNA binding protein	BrainSpLMD|5094	OMIM|601210
IN-CTX-CGE1	MT.ND1	0.360916953	2.32E-05			
IN-CTX-CGE1	DCAF7	0.261646068	2.40E-05	Unclassified	BrainSpLMD|10238;BrainSpMouseDev|47674	OMIM|605973
IN-CTX-CGE1	AC009245.3	0.534584014	2.56E-05			
IN-CTX-CGE1	UBE2L3	0.610058516	2.61E-05	Ubiquitin proteasome system protein	BrainSpLMD|7332	OMIM|603721
IN-CTX-CGE1	DDX10	0.622766818	2.64E-05	RNA binding protein	BrainSpLMD|1662	OMIM|601235;COSMIC||AML*
IN-CTX-CGE1	BTG1	0.792918637	2.81E-05	Cell cycle control protein	BrainSpLMD|694	OMIM|109580;COSMIC||B-CLL
IN-CTX-CGE1	USP47	0.368373795	3.25E-05	Ubiquitin proteasome system protein	BrainSpLMD|55031	OMIM|614460
IN-CTX-CGE1	WI2.1896O14.1	0.831811751	3.52E-05			
IN-CTX-CGE1	ATP5E	0.376862931	3.69E-05			
IN-CTX-CGE1	NNT	0.439018248	3.95E-05	Enzyme: Oxidoreductase	BrainSpLMD|23530;Eurexp|euxassay_007280|diaphragm, left lung, oesophagus, right lung, skeletal muscle, vertebral axis muscle system	OMIM|607878;HPO|23530|Autosomal recessive inheritance, Failure to thrive, Hypoglycemia
IN-CTX-CGE1	CSTB	1.120873323	4.36E-05	Protease inhibitor	BrainSpLMD|1476;Eurexp|euxassay_009738|bladder, mandible, maxilla, stomach, thymus primordium	OMIM|601145;HPO|1476|Absence seizures, Ataxia, Autosomal recessive inheritance, Dysarthria, EEG with polyspike wave complexes, Generalized tonic-clonic seizures, Intention tremor, Limb ataxia, Mental deterioration, Morning myoclonic jerks, Myoclonus
IN-CTX-CGE1	ERH	0.504089805	4.70E-05	Transcription regulatory protein	BrainSpLMD|2079;Eurexp|euxassay_018034|orbito-sphenoid, ventricular layer	OMIM|601191
IN-CTX-CGE1	RPAP2	0.303092719	4.75E-05	Unclassified	BrainSpLMD|79871	OMIM|611476
IN-CTX-CGE1	PSMD4	0.422530229	4.83E-05	Ubiquitin proteasome system protein	BrainSpLMD|5710	OMIM|601648
IN-CTX-CGE1	FAM214A	1.094895528	4.84E-05	Unclassified	Eurexp|euxassay_003223|Meckel's cartilage, adrenal gland, incisor, mesenchyme, molar, pituitary, rib, testis	
IN-CTX-CGE1	PPME1	0.595641416	5.61E-05	Enzyme: Methyltransferase	BrainSpLMD|51400;Eurexp|euxassay_003617|bladder, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, incisor, olfactory, penis, respiratory, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|611117
IN-CTX-CGE1	NSA2	0.320538734	5.89E-05	Unclassified		OMIM|612497
IN-CTX-CGE1	TMEM57	0.345214746	6.22E-05			
IN-CTX-CGE1	TNRC6A	0.360760364	6.58E-05	Transcription regulatory protein	BrainSpLMD|27327	OMIM|610739
IN-CTX-CGE1	IST1	0.330824608	6.76E-05	Unclassified	BrainSpLMD|9798;Eurexp|euxassay_013623|brain, cornea, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, molar, neural retina, pharyngo-tympanic tube, spinal cord, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|616434
IN-CTX-CGE1	SMARCA1	0.360893065	7.05E-05	Transcription regulatory protein	BrainSpLMD|6594;Eurexp|euxassay_015278|floorplate, hindgut, midgut, stomach	OMIM|300012
IN-CTX-CGE1	POLR2I	0.362957517	7.46E-05	RNA polymerase	BrainSpLMD|5438	OMIM|180662
IN-CTX-CGE1	PSMC2	0.526422575	7.55E-05	Ubiquitin proteasome system protein	BrainSpLMD|5701	OMIM|154365
IN-CTX-CGE1	UQCR10	0.358366038	7.60E-05	Enzyme: Oxidoreductase	BrainSpLMD|29796;Eurexp|euxassay_001948|Meckel's cartilage, adrenal gland, cortex, dorsal root ganglion, foregut-midgut junction, frontal bone primordium, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, ventral grey horn, vertebral axis muscle system, vibrissa	OMIM|610843
IN-CTX-CGE1	RAB6A	0.425354617	8.54E-05	GTPase	BrainSpLMD|5870;Eurexp|euxassay_012532|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, molar, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|179513
IN-CTX-CGE1	MAPRE1	0.409786922	8.72E-05	Cell cycle control protein	BrainSpLMD|22919	OMIM|603108
IN-CTX-CGE1	TPT1.AS1	0.367408143	9.26E-05			
IN-CTX-CGE1	NECAP1	0.446098814	9.29E-05	Unclassified	BrainSpLMD|25977	OMIM|611623;HPO|25977|Autosomal recessive inheritance, Decreased fetal movement, Epileptic encephalopathy, Feeding difficulties, Generalized hypotonia, Global developmental delay, Muscular hypotonia of the trunk
IN-CTX-CGE1	PTCD3	0.265127144	9.34E-05	Unclassified	BrainSpLMD|55037	OMIM|614918
IN-CTX-CGE1	PHF3	0.472046097	0.000102307	Transcription factor	BrainSpLMD|23469	SFARI||Autism, 2 - Strong candidate;OMIM|607789
IN-CTX-CGE1	PAXBP1	0.382764574	0.000103434	Unclassified	BrainSpLMD|94104;Eurexp|euxassay_012943|brain, choroid plexus, dorsal root ganglion, lateral recess, spinal cord, trigeminal V, vagus X, ventricle	OMIM|617621
IN-CTX-CGE1	CDH2	0.788203656	0.000108186	Adhesion molecule	BrainSpLMD|1000;Eurexp|euxassay_003128|L1, L2, L3, L4, L5, Meckel's cartilage, annulus fibrosus, axial skeleton, basisphenoid bone, brain, cervical, cervico-thoracic, chondrocranium, cortex, cranium, dorsal root ganglion, epidermis, exoccipital bone, facial VII, foregut-midgut junction, forelimb, frontal bone primordium, glossopharyngeal IX, head mesenchyme, hindgut, hindlimb, incisor, leg, lip, lumbar region, mesenchyme, midgut, molar, neural retina, nucleus polposus, nucleus pulposus, olfactory, orbito-sphenoid, penis, pituitary, rib, sacral region, skin, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|12343	OMIM|114020
IN-CTX-CGE1	RBMXL1	0.390723339	0.000121331	-		
IN-CTX-CGE1	MTRNR2L12	0.385673621	0.000129567			
IN-CTX-CGE1	FSD1L	0.419463283	0.000132306	Unclassified	BrainSpLMD|83856	OMIM|609829
IN-CTX-CGE1	SMG1P2	0.254525307	0.000140417			
IN-CTX-CGE1	CSPP1	0.435318078	0.000144477	Unclassified	BrainSpLMD|79848;Eurexp|euxassay_011574|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, metanephros, olfactory, right lung, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611654;HPO|79848|Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Cataract, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Cleft palate, Congenital hepatic fibrosis, Congenital onset, Cryptorchidism, Depressed nasal ridge, Dyspnea, Elongated superior cerebellar peduncle, Encephalocele, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Hypertelorism, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Postaxial foot polydactyly, Postaxial hand polydactyly, Posterior fossa cyst, Ptosis, Sclerocornea, Sloping forehead, Strabismus, Talipes, Variable expressivity
IN-CTX-CGE1	PNRC2	0.288132012	0.000154484	Ligand	Eurexp|euxassay_002876|thymus primordium, ventricular layer	OMIM|611882
IN-CTX-CGE1	DYNLRB1	0.309088929	0.000155034	Unclassified;Transport/cargo protein	BrainSpLMD|83658;Eurexp|euxassay_002535|dorsal root ganglion	OMIM|607167
IN-CTX-CGE1	RNF7	0.320870401	0.000161579	Enzyme: Ligase	BrainSpLMD|9616	OMIM|603863
IN-CTX-CGE1	COX6B1	0.375889303	0.000163935	Enzyme: Oxidoreductase	BrainSpLMD|1340	OMIM|124089;HPO|1340|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
IN-CTX-CGE1	XPO7	0.504996944	0.000164721	Transport/cargo protein	BrainSpLMD|23039	OMIM|606140
IN-CTX-CGE1	RBM5	0.297733939	0.000173136	RNA binding protein	BrainSpLMD|10181	OMIM|606884
IN-CTX-CGE1	C1orf52	0.50202985	0.000177942	Unclassified	BrainSpLMD|148423	
IN-CTX-CGE1	RPL7P32	1.208915023	0.000181445			
IN-CTX-CGE1	PPP1R9A	0.496175093	0.000184126	Cytoskeletal associated protein	Eurexp|euxassay_012258|choroid plexus, mantle layer, skeletal muscle, ventricular layer	OMIM|602468
IN-CTX-CGE1	CTNND2	0.263084225	0.000189266	Adhesion molecule	BrainSpLMD|1501;Eurexp|euxassay_018872|dorsal root ganglion, facial VII, neural retina, trigeminal V	SFARI||Autism, 2 - Strong candidate;OMIM|604275;COSMIC||prostae adenocarcinoma, GIST;HPO|1501|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
IN-CTX-CGE1	PHTF2	0.263156893	0.000189464	Transcription factor	BrainSpLMD|57157;Eurexp|euxassay_004990|embryo;BrainSpMouseDev|44612	OMIM|616785
IN-CTX-CGE1	RP11.408P14.1	0.62424822	0.0001943			
IN-CTX-CGE1	DYNC1LI2	0.274311101	0.00019624	Unclassified	BrainSpLMD|1783	OMIM|611406
IN-CTX-CGE1	C5orf24	0.266150018	0.000196433	Unclassified	BrainSpLMD|134553	
IN-CTX-CGE1	MAPK1IP1L	0.300068445	0.000198856	Unclassified	BrainSpLMD|93487	OMIM|617226
IN-CTX-CGE1	NUP50	0.323199949	0.000202655	Transport/cargo protein	BrainSpLMD|10762	OMIM|604646
IN-CTX-CGE1	ZC3H15	0.368462621	0.000207074	DNA binding protein	BrainSpLMD|55854	
IN-CTX-CGE1	LRIG2	0.344890845	0.000209098	Cell surface receptor	BrainSpLMD|9860	OMIM|608869;HPO|9860|Autosomal recessive inheritance, Constipation, Cryptorchidism, Enuresis, Hydronephrosis, Recurrent urinary tract infections, Renal insufficiency, Urethral obstruction, Urinary incontinence, Urinary urgency, Vesicoureteral reflux
IN-CTX-CGE1	UBR4	0.334367999	0.000221137	Unclassified	BrainSpLMD|23352	OMIM|609890
IN-CTX-CGE1	RTN1	0.467297523	0.000231017	Integral membrane protein	BrainSpLMD|6252;Eurexp|euxassay_003752|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, penis, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|600865
IN-CTX-CGE1	PPAPDC1B	0.371136447	0.000234823			
IN-CTX-CGE1	PDXDC1	0.33665554	0.000235529	Enzyme: Decarboxylase		OMIM|614244
IN-CTX-CGE1	RAC1	0.25072521	0.000251753	GTPase	BrainSpLMD|5879;BrainSpMouseDev|19116	OMIM|602048;COSMIC||melanoma, carcinoma
IN-CTX-CGE1	PFDN5	0.301101496	0.000259748	Chaperone	BrainSpLMD|5204	OMIM|604899
IN-CTX-CGE1	MYL6B	0.619651967	0.000261575	Structural protein	BrainSpLMD|140465;Eurexp|euxassay_005932|brain, diaphragm, mesenchyme, paraxial mesenchyme, skeletal muscle, spinal cord, vertebral axis muscle system	OMIM|609930
IN-CTX-CGE1	YEATS2	0.781024176	0.000261587	Unclassified	BrainSpLMD|55689	SFARI||Autism, No category;OMIM|613373
IN-CTX-CGE1	PUM1	0.276366197	0.000263454	RNA binding protein	BrainSpLMD|9698	OMIM|607204
IN-CTX-CGE1	BMS1	0.660566438	0.000274724	Unclassified	BrainSpLMD|9790	OMIM|611448;HPO|9790|Aplasia cutis congenita over the scalp vertex, Autosomal dominant inheritance, Autosomal recessive inheritance, Calvarial skull defect, Congenital localized absence of skin, Skin ulcer, Spinal dysraphism
IN-CTX-CGE1	TMSB10	0.356596319	0.000287719	Cytoskeletal associated protein	BrainSpLMD|9168	OMIM|188399
IN-CTX-CGE1	ASF1A	0.439606169	0.000289007	Chaperone	BrainSpLMD|25842;Eurexp|euxassay_006843|cortex, incisor, left lung, marginal layer, oesophagus, right lung, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|609189
IN-CTX-CGE1	ALDH6A1	0.344153204	0.000289522	Enzyme: Dehydrogenase	BrainSpLMD|4329;Eurexp|euxassay_018815|choroid invagination, naris, nasal septum, otic capsule, turbinate bones, ventricular layer	OMIM|603178;HPO|4329|Abnormal facial shape, Autosomal recessive inheritance, Bulbous nose, Cataract, Delayed myelination, Depressed nasal bridge, Downslanted palpebral fissures, Dystonia, Epicanthus, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Long philtrum, Metabolic acidosis, Microcephaly, Microphthalmia, Muscular hypotonia, Phenotypic variability, Short nose, Tented upper lip vermilion
IN-CTX-CGE1	EIF3J	0.296840678	0.000306448	Translation regulatory protein	BrainSpLMD|8669	OMIM|603910
IN-CTX-CGE1	SERINC5	0.753175852	0.000316491	Unclassified	BrainSpLMD|256987;Eurexp|euxassay_011506|anterior, clavicle, floor plate, floorplate, incisor, mantle layer, marginal layer, molar, phalanx, thyroid, ventricular layer, vibrissa	OMIM|614551
IN-CTX-CGE1	CCDC50	0.637606466	0.000332968	Unclassified	BrainSpLMD|152137	OMIM|611051;HPO|152137|Autosomal dominant inheritance, Sensorineural hearing impairment
IN-CTX-CGE1	UBA3	0.328316489	0.000348423	Ubiquitin proteasome system protein	BrainSpLMD|9039	OMIM|603172
IN-CTX-CGE1	CEP95	0.420097677	0.000349606	Unclassified	BrainSpLMD|90799	
IN-CTX-CGE1	ZNF536	0.27786013	0.000356955	DNA binding protein	BrainSpLMD|9745;Eurexp|euxassay_015751|adrenal gland, bladder, brain, cochlea, dorsal root ganglion, forelimb, glossopharyngeal IX, hindgut, hindlimb, limb, loop, lung, mandible, medullary stroma, midgut, molar, oesophagus, olfactory, penis, pituitary, rectum, retina, spinal cord, stomach, thyroid, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	
IN-CTX-CGE1	DCTN3	0.399765502	0.000363035	Cell cycle control protein	BrainSpLMD|11258	OMIM|607387
IN-CTX-CGE1	LPGAT1	0.85061039	0.000371361	Enzyme: Acyltransferase	BrainSpLMD|9926	OMIM|610473
IN-CTX-CGE1	LINC01420	0.25467796	0.000373082			
IN-CTX-CGE1	EIF1AX	0.374368703	0.000385202	Translation regulatory protein	BrainSpLMD|1964	OMIM|300186;COSMIC||uveal melanoma, thyroid cancer (PDTC and ATC), low grade serous ovarian cancer
IN-CTX-CGE1	NGRN	0.939032629	0.000391378	Unclassified		OMIM|616718
IN-CTX-CGE1	SAP18	0.300448982	0.000398727	Transcription regulatory protein	BrainSpLMD|10284	OMIM|602949
IN-CTX-CGE1	OTUD6B.AS1	0.567923549	0.000408123			
IN-CTX-CGE1	LRCH2	0.900107015	0.000422806	Unclassified	BrainSpLMD|57631;Eurexp|euxassay_013951|anterior abdominal wall, bladder, brain, cortex, extrinsic, metanephros, spinal cord	
IN-CTX-CGE1	TFAM	0.83072302	0.000422972	Transcription factor	BrainSpLMD|7019;Eurexp|euxassay_002182|thymus primordium, ventricular layer;BrainSpMouseDev|21539	OMIM|600438;HPO|7019|Abnormality of the coagulation cascade, Ascites, Autosomal recessive inheritance, Cirrhosis, Congenital onset, Death in infancy, Elevated hepatic transaminases, Failure to thrive, Hepatic failure, Hypoglycemia, Intrauterine growth retardation, Jaundice, Microvesicular hepatic steatosis, Progressive
IN-CTX-CGE1	SEL1L	0.326211966	0.000426731	Integral membrane protein	BrainSpLMD|6400;BrainSpMouseDev|20101	OMIM|602329
IN-CTX-CGE1	QRICH1	0.360529696	0.000426758	Unclassified	BrainSpLMD|54870	SFARI||Autism, 4 - Minimal evidence;OMIM|617387
IN-CTX-CGE1	C19orf43	0.838069833	0.000435883			
IN-CTX-CGE1	NF2	0.318506932	0.000463084	Cytoskeletal associated protein	BrainSpLMD|4771	OMIM|607379;COSMIC||meningioma, acoustic neuroma, renal, meningioma, acoustic neuroma;HPO|4771|Abnormality of the skin, Abnormality of the vertebral column, Adult onset, Ataxia, Autosomal dominant inheritance, Cataract, Epiretinal membrane, Incomplete penetrance, Meningioma, Migraine, Peripheral neuropathy, Schwannoma, Sensorineural hearing impairment, Somatic mutation, Spinal cord tumor, Tinnitus, Variable expressivity, Vertigo
IN-CTX-CGE1	IBTK	0.979405874	0.000464812	Unclassified	BrainSpLMD|25998	OMIM|606457
IN-CTX-CGE1	CNOT2	0.28831775	0.000467482	Transcription regulatory protein	BrainSpLMD|4848	OMIM|604909
IN-CTX-CGE1	SRRM1	0.397813848	0.000470127	Ribonuclease	BrainSpLMD|10250	OMIM|605975
IN-CTX-CGE1	RP11.631M6.2	0.460837611	0.000478047			
IN-CTX-CGE1	LRRC37A4P	0.317778733	0.000507632			
IN-CTX-CGE1	CROCCP2	0.488254318	0.00054168	Unclassified	BrainSpLMD|84809	
IN-CTX-CGE1	NDRG4	0.489053976	0.000557701	Enzyme: Hydrolase;Cell cycle control protein	BrainSpLMD|65009;Eurexp|euxassay_015917|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mantle layer, neural retina, trigeminal V, ventral grey horn, vestibulocochlear VIII	OMIM|614463
IN-CTX-CGE1	TIAM2	0.408607535	0.000568999	Guanine nucleotide exchange factor	BrainSpLMD|26230;BrainSpMouseDev|23752	OMIM|604709
IN-CTX-CGE1	MRPL33	0.359243842	0.00061247	Ribosomal subunit	BrainSpLMD|9553	OMIM|610059
IN-CTX-CGE1	MTND1P23	0.476999731	0.000618252			
IN-CTX-CGE1	HNRNPR	0.468684565	0.000658346	RNA binding protein	BrainSpLMD|10236	OMIM|607201
IN-CTX-CGE1	PRPF4B	0.477855144	0.000659571	Serine/threonine kinase	BrainSpLMD|8899;Eurexp|euxassay_005644|embryo	OMIM|602338
IN-CTX-CGE1	USP33	0.643985949	0.000668734	Ubiquitin proteasome system protein	BrainSpLMD|23032	OMIM|615146
IN-CTX-CGE1	MYCBP2	0.871149009	0.000700475	Transcription regulatory protein	BrainSpLMD|23077;Eurexp|euxassay_009485|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|69854	OMIM|610392
IN-CTX-CGE1	RCN2	0.332276642	0.000709146	Calcium binding protein	BrainSpLMD|5955;Eurexp|euxassay_012215|axial skeleton, exoccipital bone, medullary raphe, orbito-sphenoid, otic capsule, rib, temporal bone, thyroid, turbinate, vault of skull, ventricular layer	OMIM|602584
IN-CTX-CGE1	METTL9	0.465434477	0.000714462	Unclassified	BrainSpLMD|51108	OMIM|609388
IN-CTX-CGE1	ARFGAP3	0.430527575	0.000720419	GTPase activating protein	BrainSpLMD|26286	OMIM|612439
IN-CTX-CGE1	ZNF37A	0.321794014	0.000737937	DNA binding protein	BrainSpLMD|7587	OMIM|616085
IN-CTX-CGE1	DNAJC7	0.268484462	0.000755086	Chaperone	BrainSpLMD|7266	OMIM|601964
IN-CTX-CGE1	TPP2	0.721436867	0.0007751	Aminopeptidase	BrainSpLMD|7174	OMIM|190470;HPO|7174|Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemiparesis, Hepatitis, Lymphadenopathy, Lymphopenia, Moderate global developmental delay, Recurrent otitis media, Respiratory tract infection, Splenomegaly, Stroke, Systemic lupus erythematosus
IN-CTX-CGE1	CDC42SE2	0.39766099	0.000798288	Unclassified	BrainSpLMD|56990	
IN-CTX-CGE1	PHF20L1	0.323447745	0.000802858	Unclassified	BrainSpLMD|51105	
IN-CTX-CGE1	RPP30	0.660812077	0.000806375	Ribonuclease	BrainSpLMD|10556;Eurexp|euxassay_006550|liver, lung, metanephros, olfactory, pancreas, primitive seminiferous tubules, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|606115
IN-CTX-CGE1	KLF7	0.80982017	0.000817118	Transcription factor	BrainSpLMD|8609;Eurexp|euxassay_003485|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, respiratory, stroma, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII;BrainSpMouseDev|60343	OMIM|604865
IN-CTX-CGE1	LTN1	0.365036939	0.000859302	Ubiquitin proteasome system protein	BrainSpLMD|26046	OMIM|613083
IN-CTX-CGE1	SAFB2	0.759231241	0.000879274	Unclassified	BrainSpLMD|9667	OMIM|608066
IN-CTX-CGE1	USP16	0.436961703	0.000908831	Ubiquitin proteasome system protein	BrainSpLMD|10600	OMIM|604735
IN-CTX-CGE1	BHLHB9	0.271494966	0.00091027	Transcription regulatory protein	BrainSpLMD|80823;Eurexp|euxassay_012088|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, brain, dorsal root ganglion, exoccipital bone, facial VII, fibula, glossopharyngeal IX, humerus, neural retina, orbito-sphenoid, otic capsule, pelvic girdle, rib, scapula, spinal cord, submandibular gland primordium, temporal bone, tibia, trigeminal V, turbinate, vagus X	OMIM|300921
IN-CTX-CGE1	NAP1L4	0.517129561	0.000917921	Chaperone	BrainSpLMD|4676	OMIM|601651
IN-CTX-CGE1	SSU72	0.353547799	0.000924034	Unclassified	BrainSpLMD|29101	OMIM|617680
IN-CTX-CGE1	PAK1IP1	0.281403297	0.000930213	Cytoskeletal associated protein	BrainSpLMD|55003;Eurexp|euxassay_000585|chondrocranium, lobe	OMIM|607811
IN-CTX-CGE1	NGDN	0.44419422	0.000943203	Unclassified	BrainSpLMD|25983	OMIM|610777
IN-CTX-CGE1	TMOD2	0.268753628	0.000949864	Cytoskeletal associated protein	BrainSpLMD|29767	OMIM|602928
IN-CTX-CGE1	SLC39A6	0.466353591	0.000970461	Membrane transport protein	BrainSpLMD|25800	OMIM|608731
IN-CTX-CGE1	UQCRC2	0.385930701	0.000987747	Enzyme: Reductase	BrainSpLMD|7385;Eurexp|euxassay_018923|aorta, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, vibrissa	OMIM|191329;HPO|7385|Autosomal recessive inheritance, Hyperammonemia, Hypoglycemia, Increased serum lactate, Increased serum pyruvate, Metabolic acidosis
IN-CTX-CGE1	RUFY3	0.413585845	0.00100314	Unclassified	BrainSpLMD|22902	OMIM|611194
IN-CTX-CGE1	CLK1	0.449132783	0.001027429	Dual specificity kinase	BrainSpLMD|1195	OMIM|601951
IN-CTX-CGE1	JAKMIP2	0.371589272	0.001082319	Unclassified	BrainSpLMD|9832	OMIM|611197
IN-CTX-CGE1	XPO1	0.279464936	0.001140891	Transport/cargo protein	BrainSpLMD|7514	SFARI||Autism, 4 - Minimal evidence;OMIM|602559;COSMIC||CLL
IN-CTX-CGE1	APEX1	0.327882639	0.001149877	DNA repair protein	BrainSpLMD|328;Eurexp|euxassay_005116|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, hindgut, incisor, liver, lung, mandible, metanephros, midgut, molar, naris, naso-lacrimal duct, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, rectum, respiratory, retina, spinal cord, sternum, stomach, submandibular gland primordium, testis, thoracic, thymus primordium, thyroid, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|107748
IN-CTX-CGE1	CHL1	0.626910644	0.001169054	Adhesion molecule	BrainSpLMD|10752;BrainSpMouseDev|12446	OMIM|607416;HPO|10752|Atrioventricular canal defect, Brachycephaly, Cleft palate, Cognitive impairment, Cryptorchidism, Downturned corners of mouth, Epicanthus, Hearing impairment, High palate, Hypertelorism, Intrauterine growth retardation, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscular hypotonia, Postaxial hand polydactyly, Ptosis, Short stature, Telecanthus
IN-CTX-CGE1	POLE3	0.412519855	0.001172806	DNA binding protein	BrainSpLMD|54107	OMIM|607267
IN-CTX-CGE1	CTR9	0.696697473	0.001193378	Transcription regulatory protein	BrainSpLMD|9646	OMIM|609366
IN-CTX-CGE1	DHX29	0.378024927	0.001219965	RNA helicase	BrainSpLMD|54505	OMIM|612720
IN-CTX-CGE1	TEX10	0.312043753	0.001284757	Unclassified	BrainSpLMD|54881	OMIM|616717
IN-CTX-CGE1	RRP15	0.284416322	0.001300791	Unclassified	BrainSpLMD|51018	OMIM|611193
IN-CTX-CGE1	PTOV1	0.435079392	0.001342711	Cell cycle control protein	BrainSpLMD|53635	OMIM|610195
IN-CTX-CGE1	EIF4G2	0.271673839	0.001364876	Translation regulatory protein	BrainSpLMD|1982	OMIM|602325
IN-CTX-CGE1	NBPF15	0.296648242	0.00138793	Unclassified		OMIM|614005
IN-CTX-CGE1	USP34	0.740974599	0.001406624	Ubiquitin proteasome system protein	BrainSpLMD|9736	OMIM|615295
IN-CTX-CGE1	MIDN	0.468977835	0.001475232	Unclassified		OMIM|606700
IN-CTX-CGE1	UBE2A	0.263611345	0.001493731	Ubiquitin proteasome system protein	BrainSpLMD|7319;Eurexp|euxassay_018835|hypothalamus, mantle layer	OMIM|312180;HPO|7319|Abnormal hair whorl, Aggressive behavior, Almond-shaped palpebral fissure, Broad face, Broad hallux, Broad neck, Deeply set eye, Depressed nasal bridge, Downturned corners of mouth, Dry skin, Echolalia, Hirsutism, Hypointensity of cerebral white matter on MRI, Increased body weight, Intellectual disability, Low posterior hairline, Macrocephaly, Malar flattening, Micropenis, Midface retrusion, Nail dysplasia, Nail dystrophy, Pes planus, Poor speech, Prominent supraorbital ridges, Regional abnormality of skin, Seizures, Short foot, Short neck, Synophrys, Thin vermilion border, Upslanted palpebral fissure, Wide intermamillary distance, Wide mouth, X-linked recessive inheritance
IN-CTX-CGE1	YWHAB	0.361735489	0.00149417	Adapter molecule	BrainSpLMD|7529;Eurexp|euxassay_012917|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn	OMIM|601289
IN-CTX-CGE1	SNRPN	0.435285927	0.001537476	Ribonucleoprotein	BrainSpLMD|6638;Eurexp|euxassay_015728|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, hindgut, incisor, midbrain, midgut, neural retina, olfactory, penis, respiratory, spinal cord, stomach, stroma, submandibular gland primordium, telencephalon, testis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	SFARI||Autism, 5 - Hypothesized but untested;OMIM|182279;HPO|6638|Abdominal obesity, Almond-shaped palpebral fissure, Attention deficit hyperactivity disorder, Autism, Childhood onset, Clinodactyly, Clitoral hypoplasia, Cutaneous photosensitivity, Decreased fetal movement, Decreased muscle mass, Delayed puberty, Delayed speech and language development, Dolichocephaly, Downturned corners of mouth, EEG abnormality, Failure to thrive in infancy, Generalized hypopigmentation, Generalized hypotonia, Global developmental delay, Growth hormone deficiency, Heterogeneous, Hyperinsulinemia, Hypermetropia, Hypogonadotrophic hypogonadism, Hypoplastic labia minora, Hypoventilation, Impaired ability to form peer relationships, Impaired pain sensation, Impaired use of nonverbal behaviors, Increased serum serotonin, Infertility, Inflexible adherence to routines or rituals, Intellectual disability, Kyphosis, Lack of spontaneous play, Micropenis, Motor delay, Multifactorial inheritance, Narrow forehead, Narrow nasal bridge, Narrow palm, Nasal speech, Obesity, Oligomenorrhea, Polyphagia, Poor gross motor coordination, Poor suck, Recurrent respiratory infections, Restrictive behavior, Scoliosis, Seizures, Short foot, Short palm, Short stature, Sleep apnea, Small hand, Specific learning disability, Sporadic, Stereotypy, Thin upper lip vermilion, Ventriculomegaly
IN-CTX-CGE1	GABBR1	0.349258426	0.001538142	G protein coupled receptor	BrainSpLMD|2550;Eurexp|euxassay_009799|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|33684	OMIM|603540
IN-CTX-CGE1	PLRG1	0.252585129	0.001608066	Transcription regulatory protein	BrainSpLMD|5356;Eurexp|euxassay_001863|brain, dorsal root ganglion, spinal cord, thymus primordium	OMIM|605961
IN-CTX-CGE1	SF3A3	0.520568013	0.001618567	RNA binding protein	BrainSpLMD|10946	OMIM|605596
IN-CTX-CGE1	DPYSL3	0.682095929	0.001680254	Enzyme: Hydrolase	BrainSpLMD|1809;Eurexp|euxassay_010399|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, midbrain, midgut, neural retina, olfactory, stomach, telencephalon, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|601168
IN-CTX-CGE1	NBPF11	0.253529846	0.001776306	Unclassified	BrainSpLMD|200030	OMIM|614001
IN-CTX-CGE1	NUP214	0.255048011	0.001790042	Transport/cargo protein	BrainSpLMD|8021	OMIM|114350;COSMIC||AML, T-ALL;HPO|8021|Acute lymphoblastic leukemia, Polygenic inheritance
IN-CTX-CGE1	TNRC6B	0.379704433	0.001792346	Unclassified	BrainSpLMD|23112	SFARI||Autism, 2 - Strong candidate;OMIM|610740
IN-CTX-CGE1	RLIM	0.367105067	0.001822387	Transcription regulatory protein	BrainSpLMD|51132;Eurexp|euxassay_006673|embryo	SFARI||Autism, No category;OMIM|300379;HPO|51132|Behavioral abnormality, Broad forehead, Cryptorchidism, Feeding difficulties, Fine hair, Global developmental delay, Hypertelorism, Intellectual disability, Microcephaly, Micrognathia, Poor speech, Prominent nose, Wide nasal bridge, X-linked recessive inheritance
IN-CTX-CGE1	AP1G1	0.330058863	0.001824386	Transport/cargo protein	BrainSpLMD|164	OMIM|603533
IN-CTX-CGE1	RPL13P12	0.334904691	0.001915899			
IN-CTX-CGE1	EIF4G1	0.445413878	0.001970983	Translation regulatory protein	BrainSpLMD|1981	OMIM|600495
IN-CTX-CGE1	RBM17	0.949947004	0.001991889	RNA binding protein	BrainSpLMD|84991	OMIM|606935
IN-CTX-CGE1	KALRN	0.355060904	0.002007652	Guanine nucleotide exchange factor	BrainSpLMD|8997	OMIM|604605
IN-CTX-CGE1	SRGAP2C	0.347021013	0.002012243			OMIM|614704
IN-CTX-CGE1	SHPRH	0.369741384	0.002029658	Transcription regulatory protein	BrainSpLMD|257218	OMIM|608048
IN-CTX-CGE1	CCDC93	0.828798004	0.002035638	Unclassified	BrainSpLMD|54520;Eurexp|euxassay_019257|adrenal gland, diencephalon, floorplate, medulla	
IN-CTX-CGE1	YLPM1	0.27098045	0.002062429	Unclassified	BrainSpLMD|56252	
IN-CTX-CGE1	SUB1	0.541028477	0.00211051	Transcription factor	BrainSpLMD|10923	OMIM|600503
IN-CTX-CGE1	AC026271.5	0.366465481	0.002134794			
IN-CTX-CGE1	KATNBL1	0.392909863	0.002136833	Unclassified		OMIM|616235
IN-CTX-CGE1	NMD3	0.441609576	0.002138614	Unclassified	BrainSpLMD|51068	OMIM|611021
IN-CTX-CGE1	EHMT1	0.309994017	0.002224883	Enzyme: Methyltransferase	BrainSpLMD|79813	SFARI||Autism, 3 - Suggestive evidence;OMIM|607001;HPO|79813|Abnormality of the cardiac septa, Abnormality of the pinna, Absence seizures, Aggressive behavior, Anteverted nares, Aphasia, Autism, Autosomal dominant inheritance, Brachycephaly, Brachydactyly, Coarse facial features, Cryptorchidism, Delayed speech and language development, Downturned corners of mouth, Dysphasia, Echolalia, Epileptic spasms, Everted lower lip vermilion, Flat face, Flat occiput, Generalized hypotonia, Global developmental delay, Highly arched eyebrow, Hypertelorism, Hypospadias, Intellectual disability, Intellectual disability, severe, Macroglossia, Malar flattening, Mandibular prognathia, Microcephaly, Micropenis, Midface retrusion, Muscular hypotonia, Mutism, Obesity, Obsessive-compulsive behavior, Protruding tongue, Recurrent respiratory infections, Short nose, Single transverse palmar crease, Sleep disturbance, Specific learning disability, Sporadic, Status epilepticus, Stereotypy, Synophrys, U-Shaped upper lip vermilion, Upslanted palpebral fissure
IN-CTX-CGE1	DHPS	0.711807866	0.002237504	Enzyme: Synthase	BrainSpLMD|1725	OMIM|600944
IN-CTX-CGE1	MGA	0.411585134	0.002302978	Transcription regulatory protein	BrainSpMouseDev|29543	OMIM|616061
IN-CTX-CGE1	ZNF516	1.050815051	0.002343528	DNA binding protein	BrainSpLMD|9658;Eurexp|euxassay_019569|metanephros, olfactory, pituitary, testis, ventricular layer, vomeronasal organ;BrainSpMouseDev|108583	OMIM|615114
IN-CTX-CGE1	SUDS3	0.914922695	0.002371394	Transcription regulatory protein	BrainSpLMD|64426	OMIM|608250
IN-CTX-CGE1	BLOC1S1	0.615705298	0.002392277	Enzyme: Acyltransferase	BrainSpLMD|2647	OMIM|601444
IN-CTX-CGE1	SPIN1	0.322313058	0.002402934	Unclassified	BrainSpLMD|10927	OMIM|609936
IN-CTX-CGE1	MORF4L1P1	0.26683021	0.002404721			
IN-CTX-CGE1	CLINT1	0.858981957	0.002495098	Transport/cargo protein	BrainSpLMD|9685;Eurexp|euxassay_011314|basioccipital bone, basisphenoid bone, clavicle, cortex, cricoid, liver, mandible, maxilla, midgut, naris, orbito-sphenoid, otic capsule, petrous part, rectum, rib, sternum, sublingual gland primordium, submandibular gland primordium, temporal bone, thyroid, turbinate bones, valve, vault of skull	OMIM|607265
IN-CTX-CGE1	PDE4D	0.612717481	0.002521388	Enzyme: Phosphodiesterase	BrainSpLMD|5144	OMIM|600129;HPO|5144|Abnormal form of the vertebral bodies, Abnormality of female external genitalia, Abnormality of immune system physiology, Abnormality of the nail, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Anteverted nares, Autism, Autosomal dominant inheritance, Blue irides, Brachycephaly, Brachydactyly, Cerebral venous thrombosis, Cone-shaped epiphysis, Congenital craniofacial dysostosis, Congenital hypothyroidism, Congenital onset, Cryptorchidism, Delayed eruption of teeth, Delayed speech and language development, Depressed nasal bridge, Depressed nasal ridge, Diabetes mellitus, Elevated calcitonin, Elevated circulating parathyroid hormone level, Epiphyseal stippling, Fair hair, Global developmental delay, Growth hormone deficiency, Hearing impairment, Hyperactivity, Hyperphosphatemia, Hypertelorism, Hypocalcemia, Hypogonadism, Hypoplasia of the maxilla, Hypoplasia of the nasal bone, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic vertebral bodies, Hypospadias, Increased intracranial pressure, Intellectual disability, Intrauterine growth retardation, Malar flattening, Mandibular prognathia, Micromelia, Midface retrusion, Mild short stature, Narrow vertebral interpedicular distance, Obesity, Open mouth, Peripheral neuropathy, Pseudohypoparathyroidism, Red hair, Round face, Scoliosis, Short metacarpal, Short metatarsal, Short nose, Short phalanx of finger, Short stature, Short toe, Specific learning disability, Spinal canal stenosis, Wide nasal bridge
IN-CTX-CGE1	TXNL1	0.252810811	0.002525317	Enzyme: Oxidoreductase	BrainSpLMD|9352	OMIM|603049
IN-CTX-CGE1	H3F3B	0.391510455	0.002610961	DNA binding protein	BrainSpLMD|3021;Eurexp|euxassay_005704|embryo	OMIM|601058;COSMIC||chondroblastoma
IN-CTX-CGE1	SOX1	0.675360823	0.002616893	Transcription factor	BrainSpLMD|6656;Eurexp|euxassay_019565|ventral grey horn, ventricular layer	OMIM|602148
IN-CTX-CGE1	MYL12B	0.397390176	0.002683969	Cytoskeletal protein		OMIM|609211
IN-CTX-CGE1	LINC00461	0.730763792	0.002691545		Eurexp|euxassay_008007|marginal layer, ventricular layer	OMIM|616611
IN-CTX-CGE1	MLLT11	0.362747747	0.002738791	Unclassified	BrainSpLMD|10962;Eurexp|euxassay_010405|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|604684;COSMIC||ALL;HPO|10962|Autosomal dominant inheritance, Juvenile myelomonocytic leukemia, Somatic mutation
IN-CTX-CGE1	PLCG1	0.816813597	0.002778003	Enzyme: Phospholipase	BrainSpLMD|5335;BrainSpMouseDev|18567	OMIM|172420;COSMIC||angiosarcoma
IN-CTX-CGE1	POLR1D	0.298600412	0.002787119	RNA polymerase	BrainSpLMD|51082;Eurexp|euxassay_002352|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|19781	OMIM|613715;HPO|51082|Abnormality of bone mineral density, Absent eyelashes, Autosomal dominant inheritance, Choanal atresia, Choanal stenosis, Cleft eyelid, Cleft palate, Conductive hearing impairment, Downslanted palpebral fissures, Frontal bossing, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Iris coloboma, Low anterior hairline, Malar flattening, Micrognathia, Microtia, Midface retrusion, Narrow internal auditory canal, Open bite, Reduced number of teeth, Retrognathia, Short face, Skeletal dysplasia, Strabismus, Visual impairment, Wide nasal bridge
IN-CTX-CGE1	WRB	0.428301804	0.002789668	Unclassified	BrainSpLMD|7485;Eurexp|euxassay_005059|brain, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, loop, mandible, maxilla, midgut, orbito-sphenoid, rectum, spinal cord, stomach, trigeminal V, vagus X, vestibulocochlear VIII, wall	OMIM|602915
IN-CTX-CGE1	DNAJB14	0.368435187	0.002808184	Chaperone	BrainSpLMD|79982	OMIM|617487
IN-CTX-CGE1	LINC00493	0.518511614	0.002821015			
IN-CTX-CGE1	RIF1	0.594311193	0.002829164	DNA binding protein	BrainSpLMD|55183	OMIM|608952
IN-CTX-CGE1	PRPSAP2	0.771909755	0.00285162	Regulatory/other subunit	BrainSpLMD|5636;Eurexp|euxassay_001483|brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|603762
IN-CTX-CGE1	APLP1	0.566488507	0.002915484	Transcription regulatory protein;Unclassified	BrainSpLMD|333;Eurexp|euxassay_005371|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, male, nasal septum, neural retina, olfactory, respiratory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|11590	OMIM|104775
IN-CTX-CGE1	TBCB	0.362368511	0.002976556	Chaperone	BrainSpLMD|1155	OMIM|601303
IN-CTX-CGE1	ELOVL6	0.954993503	0.002979621	Unclassified	BrainSpLMD|79071;Eurexp|euxassay_007796|embryo	OMIM|611546
IN-CTX-CGE1	VPS13B	0.375277642	0.00298337	Transport/cargo protein	BrainSpLMD|157680	SFARI||Autism, No category;OMIM|607817;HPO|157680|Abnormality of skin pigmentation, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Autosomal recessive inheritance, Cat cry, Cerebellar hypoplasia, Childhood-onset truncal obesity, Chorioretinal dystrophy, Clinodactyly of the 5th finger, Convex nasal ridge, Cubitus valgus, Decreased fetal movement, Delayed puberty, Downslanted palpebral fissures, Facial hypotonia, Failure to thrive in infancy, Feeding difficulties in infancy, Finger syndactyly, Generalized hypotonia, Genu valgum, Gingival overgrowth, Global developmental delay, Growth hormone deficiency, High, narrow palate, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Laryngomalacia, Leukopenia, Long eyelashes, Low anterior hairline, Lumbar hyperlordosis, Macrodontia, Macrodontia of permanent maxillary central incisor, Microcephaly, Micrognathia, Mitral valve prolapse, Motor delay, Muscular hypotonia, Myopia, Narrow palm, Neonatal hypotonia, Neurological speech impairment, Neutropenia, Obesity, Open mouth, Optic atrophy, Pes planus, Prominent nasal bridge, Reduced number of teeth, Reduced visual acuity, Sandal gap, Seizures, Short metacarpal, Short metatarsal, Short philtrum, Short stature, Single transverse palmar crease, Slender toe, Small for gestational age, Tapered finger, Thick corpus callosum, Thick eyebrow, Thick hair, Thoracic scoliosis, Visual impairment, Weak cry
IN-CTX-CGE1	SFXN1	0.272079574	0.003030236	Transport/cargo protein	BrainSpLMD|94081;Eurexp|euxassay_006928|embryo	OMIM|615569
IN-CTX-CGE1	GMCL1	0.541533042	0.003059631	Transcription regulatory protein	BrainSpLMD|64395	
IN-CTX-CGE1	SMDT1	0.637426597	0.003061283	Unclassified	BrainSpLMD|91689;Eurexp|euxassay_006832|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, orbito-sphenoid, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa	OMIM|615588
IN-CTX-CGE1	CEP350	0.500193383	0.003061305	Unclassified	BrainSpLMD|9857	
IN-CTX-CGE1	POLR2K	0.273554745	0.003069357	Transcription regulatory protein	BrainSpLMD|5440;Eurexp|euxassay_019504|incisor, liver, lung, molar, olfactory, submandibular gland primordium, thymus primordium, vibrissa, vomeronasal organ	OMIM|606033
IN-CTX-CGE1	TIMM44	0.525677893	0.003087097	Enzyme: Translocase	BrainSpLMD|10469	OMIM|605058
IN-CTX-CGE1	MOB3B	0.638630454	0.003135204	Unclassified	BrainSpLMD|79817;Eurexp|euxassay_011555|incisor, molar	OMIM|617652
IN-CTX-CGE1	ZKSCAN1	0.445428886	0.003141323	Transcription regulatory protein	BrainSpLMD|7586;Eurexp|euxassay_012753|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, olfactory, spinal cord, trigeminal V, vagus X;BrainSpMouseDev|50411	OMIM|601260
IN-CTX-CGE1	SF3B5	0.573351134	0.00314895	Unclassified	BrainSpLMD|83443;Eurexp|euxassay_005026|orbito-sphenoid, ventricular layer	
IN-CTX-CGE1	RPL36AL	0.344648991	0.003195943	Ribosomal subunit	BrainSpLMD|6166	OMIM|180469
IN-CTX-CGE1	GOSR1	0.267963031	0.003198062	Membrane transport protein	BrainSpLMD|9527	OMIM|604026
IN-CTX-CGE1	MEF2A	0.312197763	0.003248433	Transcription regulatory protein	BrainSpLMD|4205;BrainSpMouseDev|17027	OMIM|600660
IN-CTX-CGE1	ATM	0.296334078	0.003277402	Serine/threonine kinase	BrainSpLMD|472	OMIM|607585;COSMIC||T-PLL, leukaemia, lymphoma, medulloblastoma, glioma;HPO|472|Abnormal spermatogenesis, Abnormality of bone marrow cell morphology, Abnormality of chromosome stability, Abnormality of the hair, Anorexia, Aplasia/Hypoplasia of the thymus, Ataxia, Autosomal recessive inheritance, B-cell lymphoma, Bronchiectasis, Cafe-au-lait spot, Cellular immunodeficiency, Choreoathetosis, Conjunctival telangiectasia, Decreased antibody level in blood, Decreased number of CD4+ T cells, Defective B cell differentiation, Delayed puberty, Diabetes mellitus, Dysarthria, Dystonia, Elevated alpha-fetoprotein, Elevated hepatic transaminases, Fatigue, Female hypogonadism, Fever, Gait disturbance, Glucose intolerance, Hodgkin lymphoma, Hypopigmentation of hair, Hypoplasia of the thymus, IgA deficiency, Immunoglobulin IgG2 deficiency, Leukemia, Lymphadenopathy, Lymphopenia, Mucosal telangiectasiae, Myoclonus, Neoplasm, Non-Hodgkin lymphoma, Nystagmus, Polycystic ovaries, Premature graying of hair, Recurrent bronchitis, Recurrent respiratory infections, Reduced tendon reflexes, Seizures, Short stature, Sinusitis, Skeletal muscle atrophy, Spasticity, Splenomegaly, Strabismus, Telangiectasia of the skin, Tremor, Weight loss
IN-CTX-CGE1	CAPRIN1	0.358441101	0.003330529	Integral membrane protein	BrainSpLMD|4076	SFARI||Autism, 3 - Suggestive evidence;OMIM|601178
IN-CTX-CGE1	FAM172A	0.547270159	0.003333951	Unclassified	BrainSpLMD|83989;Eurexp|euxassay_010283|ventricular layer	
IN-CTX-CGE1	RSRC1	0.534764234	0.003475658	Unclassified	BrainSpLMD|51319	OMIM|613352
IN-CTX-CGE1	MPC1	0.433626361	0.003514333	Unclassified	BrainSpLMD|51660;Eurexp|euxassay_014791|adrenal gland, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V	OMIM|614738;HPO|51660|Autosomal recessive inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hypoglycemia, Increased serum lactate, Increased serum pyruvate, Lactic acidosis, Organic aciduria, Variable expressivity
IN-CTX-CGE1	RASSF2	0.628116004	0.003656688	Cell cycle control protein	BrainSpLMD|9770;Eurexp|euxassay_010507|meninges, valve, ventricular layer	OMIM|609492
IN-CTX-CGE1	EPB41L4A.AS1	0.451016758	0.003662654			
IN-CTX-CGE1	EXOSC10	0.253740725	0.003799164	Unclassified	BrainSpLMD|5394	OMIM|605960
IN-CTX-CGE1	TRIM26	0.340941574	0.003974837	DNA binding protein	BrainSpLMD|7726	OMIM|600830
IN-CTX-CGE1	C11orf30	0.487461952	0.004002385			SFARI||Autism, 3 - Suggestive evidence
IN-CTX-CGE1	ZNF22	0.661310052	0.004015846	DNA binding protein	BrainSpLMD|7570;Eurexp|euxassay_004421|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|194529
IN-CTX-CGE1	RP4.635E18.8	0.690692766	0.004035027			
IN-CTX-CGE1	DNAJB6	0.629115617	0.004039778	Chaperone	BrainSpLMD|10049;Eurexp|euxassay_001462|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V	OMIM|611332;HPO|10049|Adult onset, Autosomal dominant inheritance, Difficulty climbing stairs, Dysphagia, Elevated serum creatine phosphokinase, Gowers sign, Muscle fiber splitting, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Shoulder girdle muscle weakness, Slow progression, Waddling gait
IN-CTX-CGE1	WDR47	0.587360729	0.004076633	Unclassified	BrainSpLMD|22911;Eurexp|euxassay_004509|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|615734
IN-CTX-CGE1	HDGFRP3	0.3301859	0.004086994			
IN-CTX-CGE1	STMN4	0.353876185	0.004098888	Unclassified	BrainSpLMD|81551	
IN-CTX-CGE1	LARP4	0.29709516	0.004133311	RNA binding protein	BrainSpLMD|113251	
IN-CTX-CGE1	TRMT61B	0.341122679	0.004141161	Enzyme: Methyltransferase	BrainSpLMD|55006	
IN-CTX-CGE1	H3F3AP6	0.291625755	0.004227232			
IN-CTX-CGE1	TTL	0.631560003	0.004267131	Enzyme: Ligase	BrainSpLMD|150465;Eurexp|euxassay_003613|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, ventral grey horn	OMIM|608291
IN-CTX-CGE1	NEK1	0.278727768	0.004394925	Serine/threonine kinase	BrainSpLMD|4750;Eurexp|euxassay_014225|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, ventral grey horn	OMIM|604588;HPO|4750|Ambiguous genitalia, Amyotrophic lateral sclerosis, Anxiety, Autosomal recessive inheritance, Cleft palate, Depressivity, Digenic inheritance, Disproportionate shortening of the tibia, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Hamartoma of tongue, Horizontal ribs, Hydrops fetalis, Hypoplasia of the epiglottis, Lateral clavicle hook, Median cleft lip, Muscle cramps, Narrow chest, Neurodegeneration, Pain, Paralysis, Polycystic kidney dysplasia, Polysyndactyly of hallux, Postaxial hand polydactyly, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Pulmonary hypoplasia, Respiratory failure, Short ribs, Skeletal muscle atrophy, Spasticity, Thoracic dysplasia, Xerostomia
IN-CTX-CGE1	CRBN	0.477299179	0.004404692	Unclassified	BrainSpLMD|51185;Eurexp|euxassay_004586|dorsal root ganglion, glossopharyngeal IX, trigeminal V	OMIM|609262;HPO|51185|Atrioventricular canal defect, Autosomal recessive inheritance, Brachycephaly, Cleft palate, Cognitive impairment, Cryptorchidism, Downturned corners of mouth, Epicanthus, Global developmental delay, Hearing impairment, High palate, Hypertelorism, Intellectual disability, mild, Intrauterine growth retardation, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscular hypotonia, Postaxial hand polydactyly, Ptosis, Short stature, Telecanthus
IN-CTX-CGE1	PDS5A	0.702310195	0.004409931	Unclassified	BrainSpLMD|23244;Eurexp|euxassay_012483|cortex, incisor, molar, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|613200
IN-CTX-CGE1	PUM2	0.518351925	0.004415154	RNA binding protein	BrainSpLMD|23369	OMIM|607205
IN-CTX-CGE1	TRAPPC4	0.344149568	0.004419466	Transport/cargo protein	BrainSpLMD|51399;Eurexp|euxassay_002113|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, molar, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|610971
IN-CTX-CGE1	YTHDF2	0.281208325	0.004441383	Unclassified	BrainSpLMD|51441	OMIM|610640
IN-CTX-CGE1	RRN3	0.5097446	0.004510158	Transcription factor	BrainSpLMD|54700	OMIM|605121
IN-CTX-CGE1	GNAQ	0.628337786	0.004512081	G protein	BrainSpLMD|2776	OMIM|600998;COSMIC||uveal melanoma, primary central nervous system melanocytic neoplasms;HPO|2776|Arachnoid hemangiomatosis, Arteriovenous malformation, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Buphthalmos, Capillary hemangiomas, Cerebral cortical atrophy, Choroidal hemangioma, Choroidal melanoma, Ciliary body melanoma, Facial hemangioma, Glaucoma, Hypermelanotic macule, Hyperreflexia, Intellectual disability, Iris melanoma, Macrocephaly, Nevus flammeus, Optic atrophy, Papule, Retinal detachment, Seizures, Sporadic, Strabismus, Stroke, Visual loss
IN-CTX-CGE1	ZNF451	0.3396806	0.004632204	Transcription regulatory protein	BrainSpLMD|26036;Eurexp|euxassay_000068|excretory component, physiological umbilical hernia, testis, ventricular layer	OMIM|615708
IN-CTX-CGE1	DDX27	0.752050822	0.004740296	RNA helicase	BrainSpLMD|55661	OMIM|616621
IN-CTX-CGE1	TUFM	0.356685161	0.005073858	Translation regulatory protein	BrainSpLMD|7284	OMIM|602389;HPO|7284|Autosomal recessive inheritance, Death in infancy, Developmental regression, Encephalopathy, Hepatomegaly, Hyperammonemia, Increased serum lactate, Infantile onset, Intrauterine growth retardation, Lactic acidosis, Metabolic acidosis, Microcephaly, Neonatal hypotonia, Nystagmus, Opisthotonus, Polymicrogyria, Respiratory failure
IN-CTX-CGE1	ATP5J	0.461858457	0.005254365			
IN-CTX-CGE1	TOP2B	0.381566306	0.005495369	Enzyme: Topoisomerase	BrainSpLMD|7155	OMIM|126431
IN-CTX-CGE1	LEPROTL1	0.348787983	0.005675224	Cell surface receptor	BrainSpLMD|23484	OMIM|607338
IN-CTX-CGE1	AC012358.8	0.57353943	0.005930615			
IN-CTX-CGE1	DGCR8	0.454959235	0.005951459	Unclassified	BrainSpLMD|54487	OMIM|609030;COSMIC||Wilms tumour;HPO|54487|Abnormality of the ear, Abnormality of the endocrine system, Abnormality of the hand, Aggressive behavior, Autosomal dominant inheritance, Blepharophimosis, Bulbous nose, Cleft palate, Hypocalcemia, Inguinal hernia, Intellectual disability, Microcephaly, Mood swings, Muscular hypotonia, Nasal speech, Open mouth, Paranoia, Pierre-Robin sequence, Posterior embryotoxon, Recurrent infections, Retinal vascular tortuosity, Retrognathia, Right aortic arch with mirror image branching, Short stature, Specific learning disability, Tetralogy of Fallot, Umbilical hernia, Underdeveloped nasal alae, Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Ventricular septal defect
IN-CTX-CGE1	CACUL1	0.540197499	0.005956583	Unclassified	BrainSpLMD|143384	
IN-CTX-CGE1	DHX36	0.450926755	0.006092111	RNA binding protein	BrainSpLMD|170506	OMIM|612767
IN-CTX-CGE1	PTBP2	0.319678212	0.006092867	RNA binding protein	BrainSpLMD|58155	SFARI||Autism, 4 - Minimal evidence;OMIM|608449
IN-CTX-CGE1	TBPL1	0.304686884	0.006179876	Transcription factor	BrainSpLMD|9519;Eurexp|euxassay_019419|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|605521
IN-CTX-CGE1	SPOP	0.422223937	0.006272848	Transcription regulatory protein	BrainSpLMD|8405;Eurexp|euxassay_007475|embryo	OMIM|602650;COSMIC||prostate, endometrial, prostate cancer
IN-CTX-CGE1	SCNM1	0.350733748	0.006327524	Unclassified	BrainSpLMD|79005	OMIM|608095
IN-CTX-CGE1	SON	0.516540313	0.006332918	Transcription factor	BrainSpLMD|6651;Eurexp|euxassay_007178|adrenal gland, cervical, cervico-thoracic, dorsal root ganglion, floorplate, glossopharyngeal IX, heart, mantle layer, medulla oblongata, metencephalon, oesophagus, olfactory lobe, thoracic, trigeminal V, vagus X, ventricular layer	OMIM|182465;HPO|6651|Abnormality of the dentition, Abnormality of the ribs, Arachnoid cyst, Autosomal dominant inheritance, Cerebellar hypoplasia, Cleft palate, Cortical visual impairment, Craniosynostosis, Deeply set eye, Depressed nasal bridge, Developmental regression, Downslanted palpebral fissures, Facial asymmetry, Failure to thrive, Feeding difficulties, Flexion contracture, Frontal bossing, Generalized hypotonia, Global developmental delay, Hemivertebrae, High palate, Horseshoe kidney, Hypermetropia, Hypoplasia of the corpus callosum, Intellectual disability, Joint hypermobility, Kyphosis, Low-set ears, Narrow mouth, Optic atrophy, Scoliosis, Short foot, Short philtrum, Short stature, Small hand, Strabismus, Thin upper lip vermilion, Ventriculomegaly, Wide nasal bridge
IN-CTX-CGE1	MBIP	0.313314577	0.006780726	Unclassified	BrainSpLMD|51562;Eurexp|euxassay_005376|lung	OMIM|609431
IN-CTX-CGE1	GPBP1L1	0.388352123	0.006903096	Unclassified	BrainSpLMD|60313	
IN-CTX-CGE1	ARIH2	0.576984067	0.006973449	Ubiquitin proteasome system protein	BrainSpLMD|10425	OMIM|605615
IN-CTX-CGE1	RP11.778D9.4	0.470236526	0.007019657			
IN-CTX-CGE1	BTF3L4	0.332864396	0.007061568	Unclassified	BrainSpLMD|91408;Eurexp|euxassay_006570|embryo	
IN-CTX-CGE1	MOB1B	0.674053043	0.007066871	Unclassified	BrainSpLMD|92597	OMIM|609282
IN-CTX-CGE1	FNBP4	0.351256865	0.007074538	Unclassified	BrainSpLMD|23360	OMIM|615265
IN-CTX-CGE1	NCBP1	0.25246627	0.007083618	RNA binding protein	BrainSpLMD|4686	OMIM|600469
IN-CTX-CGE1	TCEAL8	1.314774807	0.007145107	Unclassified	BrainSpLMD|90843	
IN-CTX-CGE1	DCTN4	0.256951521	0.007181829	Unclassified	BrainSpLMD|51164	OMIM|614758;HPO|51164|Biliary cirrhosis, Decreased antibody level in blood, Exocrine pancreatic insufficiency, Immunodeficiency, Malabsorption, Pulmonary fibrosis, Recurrent respiratory infections
IN-CTX-CGE1	ELF2	0.490470721	0.00724991	Transcription factor	BrainSpLMD|1998;BrainSpMouseDev|45099	
IN-CTX-CGE1	TCF3	0.610874988	0.007277068	Transcription factor	BrainSpLMD|6929;BrainSpMouseDev|21184	OMIM|147141;COSMIC||pre B-ALL;HPO|6929|Agammaglobulinemia, Arthritis, Autosomal dominant inheritance, B lymphocytopenia, Chronic otitis media, Conjunctivitis, Cough, Diarrhea, Failure to thrive, Fatigue, Fever, Immunodeficiency, Infantile onset, Osteomyelitis, Recurrent respiratory infections, Recurrent skin infections, Sinusitis, Skin rash
IN-CTX-CGE1	CAMLG	0.324531341	0.0074591	Membrane bound ligand	BrainSpLMD|819;Eurexp|euxassay_001896|dorsal root ganglion, trigeminal V	OMIM|601118
IN-CTX-CGE1	CASD1	0.321632796	0.007673139	Enzyme: Transferase	BrainSpLMD|64921	OMIM|611686
IN-CTX-CGE1	NBPF9	0.487832995	0.007676342	Unclassified		OMIM|613999
IN-CTX-CGE1	MLF2	0.309016622	0.007754184	Unclassified	BrainSpLMD|8079	OMIM|601401
IN-CTX-CGE1	HSPE1P2	0.255945616	0.007944491			
IN-CTX-CGE1	DCLK1	0.882663992	0.007966514	Serine/threonine kinase	BrainSpLMD|9201;Eurexp|euxassay_018536|floor plate, floorplate, mantle layer, ventral grey horn, ventricular layer	OMIM|604742
IN-CTX-CGE1	VPS36	0.275592026	0.008083446	Unclassified	BrainSpLMD|51028	OMIM|610903
IN-CTX-CGE1	MEIS1	0.76350344	0.008089356	Transcription factor	BrainSpLMD|4211;Eurexp|euxassay_010373|cornea, epithelium, hindgut, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, respiratory, sublingual gland primordium, submandibular gland primordium, trachea, ventricular layer, vibrissa;BrainSpMouseDev|17037	OMIM|601739
IN-CTX-CGE1	IVNS1ABP	0.472438978	0.008371205	Unclassified	BrainSpLMD|10625;Eurexp|euxassay_011634|axial muscle, axial skeleton, cervical, cervico-thoracic, clavicle, cochlea, corpus striatum, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lateral ventricle, lip, lung, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, molar, neural retina, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, pituitary, renal/urinary system, saccule, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trachea, trigeminal V, ventricle, ventricular layer, vibrissa	OMIM|609209
IN-CTX-CGE1	SPG11	0.494505468	0.008398511	Unclassified	BrainSpLMD|80208	OMIM|610844;HPO|80208|Abnormal lower motor neuron morphology, Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Abnormality of the periventricular white matter, Adult onset, Agenesis of corpus callosum, Amyotrophic lateral sclerosis, Ankle clonus, Aplasia/Hypoplasia of the corpus callosum, Ataxia, Autosomal recessive inheritance, Babinski sign, Bulbar signs, Cerebral cortical atrophy, Childhood onset, Cognitive impairment, Decreased muscle mass, Decreased number of peripheral myelinated nerve fibers, Degeneration of the lateral corticospinal tracts, Distal amyotrophy, Distal muscle weakness, Distal peripheral sensory neuropathy, Distal sensory impairment, Dysarthria, Dysphagia, EMG abnormality, Fasciculations, Foot dorsiflexor weakness, Gait disturbance, Gaze-evoked nystagmus, Hyperreflexia, Hypoplasia of the corpus callosum, Impaired vibration sensation in the lower limbs, Intellectual disability, Juvenile onset, Knee clonus, Lower limb muscle weakness, Lower limb spasticity, Macular degeneration, Mental deterioration, Motor polyneuropathy, Nystagmus, Obesity, Peripheral axonal neuropathy, Pes cavus, Phenotypic variability, Progressive, Pseudobulbar behavioral symptoms, Respiratory insufficiency due to muscle weakness, Retinal degeneration, Saccadic smooth pursuit, Seizures, Sensory neuropathy, Slow progression, Spastic gait, Spastic paraplegia, Spasticity, Specific learning disability, Thenar muscle atrophy, Tip-toe gait, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency, Ventriculomegaly, Visual impairment
IN-CTX-CGE1	ATP6V1D	0.514788785	0.008546739	ATPase	BrainSpLMD|51382;Eurexp|euxassay_003760|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, stroma, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|609398
IN-CTX-CGE1	KIAA1549	0.517714265	0.008554302	Unclassified	BrainSpLMD|57670;Eurexp|euxassay_013378|brain, cartilaginous ring, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, metanephros, molar, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613344;COSMIC||pilocytic astrocytoma
IN-CTX-CGE1	EPHA5	0.779581335	0.008630233	Receptor tyrosine kinase	BrainSpLMD|2044;Eurexp|euxassay_018953|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|13617	OMIM|600004
IN-CTX-CGE1	STRIP1	0.765082721	0.008909678	Unclassified	BrainSpLMD|85369;Eurexp|euxassay_002357|brain, dorsal root ganglion, facial VII, ganglion, glossopharyngeal IX, spinal cord, trigeminal V, vestibulocochlear VIII	
IN-CTX-CGE1	ZNF518B	0.450615311	0.008922338	Unclassified		OMIM|617734
IN-CTX-CGE1	EYA3	0.359779481	0.008972261	Tyrosine phosphatase	BrainSpLMD|2140	OMIM|601655
IN-CTX-CGE1	EIF4EBP2	0.441634712	0.009256763	Translation regulatory protein	BrainSpLMD|1979	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602224
IN-CTX-CGE1	SETD2	0.545440147	0.009291556	DNA binding protein	BrainSpLMD|29072	SFARI||Autism, 3 - Suggestive evidence;OMIM|612778;COSMIC||clear cell renal carcinoma;HPO|29072|Abnormality of immune system physiology, Accelerated skeletal maturation, Advanced eruption of teeth, Advanced ossification of carpal bones, Aggressive behavior, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Arnold-Chiari malformation, Autistic behavior, Autosomal dominant inheritance, Conductive hearing impairment, Delayed speech and language development, Depressed nasal ridge, Dolichocephaly, Downslanted palpebral fissures, Feeding difficulties in infancy, Frontal bossing, Generalized hypotonia, Global developmental delay, High anterior hairline, High forehead, High palate, Hirsutism, Hypertelorism, Hypoglycemia, Intellectual disability, Long face, Long foot, Long nose, Macrocephaly, Macrotia, Malar flattening, Mandibular prognathia, Menstrual irregularities, Muscular hypotonia, Obesity, Overgrowth, Phenotypic variability, Pointed chin, Polycystic ovaries, Polyphagia, Precocious puberty, Prominent forehead, Recurrent otitis media, Seizures, Short stature, Shyness, Slurred speech, Syringomyelia, Tall stature, Ventriculomegaly
IN-CTX-CGE1	FRY	1.102857791	0.009548026	Unclassified	BrainSpLMD|10129;Eurexp|euxassay_016041|axial skeleton, cervical, cervico-thoracic, clavicle, cricoid, dorsal root ganglion, exoccipital bone, facial VII, fibula, glossopharyngeal IX, mantle layer, metatarsus, nasal septum, neural retina, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, rest of mesenchyme, rib, sternum, temporal bone, thoracic, thyroid, tibia, trigeminal V, turbinate, vagus X, vestibulocochlear VIII, vibrissa	OMIM|614818
IN-CTX-CGE1	BTBD9	0.82236057	0.009559102	Unclassified	BrainSpLMD|114781	OMIM|611237
IN-CTX-CGE1	SPEN	0.657707324	0.009568902	Transcription regulatory protein	BrainSpLMD|23013;BrainSpMouseDev|35661	OMIM|613484;COSMIC||SMZL, adenoid cystic carcinoma, DLBCL
IN-CTX-CGE1	CTCF	0.28524422	0.009603769	Transcription regulatory protein	BrainSpLMD|10664	SFARI||Autism, 3 - Suggestive evidence;OMIM|604167;COSMIC||endometrial, breast, head and neck cancer, Mental retardation, autosomal dominant 21;HPO|10664|Abnormality of the dentition, Autosomal dominant inheritance, Cryptorchidism, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hypermetropia, Intellectual disability, Microcephaly, Short stature, Strabismus, Thin vermilion border
IN-CTX-CGE1	CALM3	0.450686104	0.009660909	Calcium binding protein	BrainSpLMD|808	OMIM|114183;HPO|808|Ventricular tachycardia, Vertigo
IN-CTX-CGE1	FAM192A	0.386852448	0.009696953	Unclassified	BrainSpLMD|80011;Eurexp|euxassay_004902|adenohypophysis, brain, glossopharyngeal IX, incisor, lung, metanephros, molar, olfactory, respiratory, retina, spinal cord, submandibular gland primordium, thymus primordium, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|617766
IN-CTX-CGE1	WDR83OS	0.37453039	0.009712173	Integral membrane protein	BrainSpLMD|51398	
IN-CTX-CGE1	MAGEH1	0.27645283	0.009792611	Cell cycle control protein	BrainSpLMD|28986;Eurexp|euxassay_005123|adenohypophysis, brain, cervical, cervico-thoracic, glossopharyngeal IX, mandible, maxilla, olfactory, respiratory, retina, spinal cord, sternum, tail, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|300548
IN-CTX-CGE1	COPS2	0.300807749	0.009818945	Transcription regulatory protein	BrainSpLMD|9318	OMIM|604508
IN-CTX-CGE1	RSRC2	0.634111269	0.009820854	Unclassified	BrainSpLMD|65117	
IN-CTX-CGE1	RP11.676M6.1	0.450946466	0.009845639			
IN-CTX-CGE2	SORCS3	3.646463142	0	Cell surface receptor	BrainSpLMD|22986;Eurexp|euxassay_013842|mantle layer, marginal layer	OMIM|606285
IN-CTX-CGE2	PROX1	3.482464406	0	Transcription factor	BrainSpLMD|5629;Eurexp|euxassay_004159|cardiovascular system, lens, liver, mantle layer, marginal layer, mesenchyme, pancreas, ventricle, ventricular layer;BrainSpMouseDev|18893	OMIM|601546
IN-CTX-CGE2	CALB2	3.455592114	0	Calcium binding protein	BrainSpLMD|794;BrainSpMouseDev|12093	OMIM|114051
IN-CTX-CGE2	SCGN	3.321640049	0	Calcium binding protein	BrainSpLMD|10590;Eurexp|euxassay_002978|mantle layer, marginal layer, pancreas, pituitary	OMIM|609202
IN-CTX-CGE2	VSTM2A	3.173379629	0	Unclassified	BrainSpLMD|222008;Eurexp|euxassay_004356|head mesenchyme, mandible, mantle layer, maxilla, mesenchyme, ventral grey horn	
IN-CTX-CGE2	NR2F2	3.085321865	0	Nuclear receptor	BrainSpLMD|7026;Eurexp|euxassay_018442|cortex, ductus deferens, extrinsic ocular muscle, incisor, lip, lung, mantle layer, metanephros, metatarsus, molar, oesophagus, stomach, submandibular gland primordium, tongue, trachea, trigeminal V, turbinate bones, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|11606	OMIM|107773;HPO|7026|Aortic valve stenosis, Atrioventricular canal defect, Autosomal dominant inheritance, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect
IN-CTX-CGE2	NR2F2.AS1	3.027855681	0			
IN-CTX-CGE2	NRIP3	2.975568489	0	Unclassified	BrainSpLMD|56675;Eurexp|euxassay_008471|brachial plexus, dorsal root ganglion, facial VII, lumbo-sacral plexus, mantle layer, marginal layer, mesenchyme, olfactory, rib, submandibular gland primordium, tongue, trigeminal V, ureter, vibrissa;BrainSpMouseDev|54433	OMIM|613125
IN-CTX-CGE2	WNT5A	2.903963467	0	Ligand	BrainSpLMD|7474;BrainSpMouseDev|22175	OMIM|164975;HPO|7474|Anteverted nares, Autosomal dominant inheritance, Bifid distal phalanx of toe, Bifid tongue, Brachydactyly, Broad thumb, Broad toe, Clinodactyly, Clinodactyly of the 5th finger, Clitoral hypoplasia, Cryptorchidism, Curly eyelashes, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Downturned corners of mouth, Duplication of the distal phalanx of hand, Epicanthus, Euryblepharon, Flat face, Frontal bossing, Gingival overgrowth, Global developmental delay, Hemivertebrae, High, narrow palate, Hydronephrosis, Hypertelorism, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic labia minora, Inguinal hernia, Intellectual disability, Long eyelashes, Long palpebral fissure, Long philtrum, Macrocephaly, Macroglossia, Malar flattening, Median cleft lip and palate, Mesomelia, Micrognathia, Micromelia, Micropenis, Midface retrusion, Nevus flammeus, Open bite, Pectus excavatum, Posteriorly rotated ears, Prominent forehead, Proptosis, Radial deviation of finger, Renal duplication, Retrognathia, Right ventricular outlet obstruction, Severe short stature, Short hard palate, Short middle phalanx of the 5th finger, Short nose, Short palm, Thin upper lip vermilion, Triangular mouth, Umbilical hernia, Upslanted palpebral fissure, Wide anterior fontanel, Wide nasal bridge, Wide nose
IN-CTX-CGE2	GS1.18A18.1	2.803981492	0			
IN-CTX-CGE2	THRB	2.630928172	0	Nuclear receptor	BrainSpLMD|7068;Eurexp|euxassay_005806|adenohypophysis, vestibulocochlear VIII;BrainSpMouseDev|21593	OMIM|190160;HPO|7068|Abdominal distention, Abnormality of the thyroid gland, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Coarse facial features, Constipation, Convex nasal ridge, Delayed skeletal maturation, Delayed speech and language development, Epiphyseal stippling, Feeding difficulties, Goiter, Hearing impairment, Hyperthyroidism, Hypothyroidism, Increased serum free triiodothyronine, Increased thyroid-stimulating hormone level, Jaundice, Large fontanelles, Macroglossia, Muscular hypotonia, Pectus carinatum, Proptosis, Sensorineural hearing impairment, Sleep disturbance, Small for gestational age, Sprengel anomaly, Thyroid hormone receptor defect, Umbilical hernia
IN-CTX-CGE2	KCNJ2	2.338453099	0	Inward rectifier channel	BrainSpLMD|3759;Eurexp|euxassay_013544|mandible, maxilla, olfactory	SFARI||Autism, No category;OMIM|600681;HPO|3759|Antegonial notching of mandible, Atrial fibrillation, Autosomal dominant inheritance, Bidirectional ventricular ectopy, Blepharophimosis, Brachydactyly, Bradycardia, Broad forehead, Bulbous nose, Cleft palate, Clinodactyly of the 5th finger, Clinodactyly of the 5th toe, Delayed eruption of permanent teeth, Delayed skeletal maturation, Depressivity, Facial asymmetry, Growth abnormality, High palate, Hypertelorism, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Joint laxity, Low-set ears, Malar flattening, Microcephaly, Oligodontia, Palpitations, Paroxysmal atrial fibrillation, Periodic hypokalemic paresis, Persistence of primary teeth, Preauricular pit, Prolonged QT interval, Prominent U wave, Prominent frontal sinuses, Scapular winging, Scoliosis, Short foot, Short mandibular rami, Short metacarpal, Short metatarsal, Short palm, Short palpebral fissure, Short phalanx of finger, Shortened QT interval, Slender long bone, Small hand, Syncope, Tachycardia, Thin upper lip vermilion, Toe syndactyly, Triangular face
IN-CTX-CGE2	SP8	2.219520279	0	Transcription factor	BrainSpLMD|221833;BrainSpMouseDev|107080	OMIM|608306
IN-CTX-CGE2	PRKCA	2.168796848	0	Serine/threonine kinase	BrainSpLMD|5578	OMIM|176960
IN-CTX-CGE2	ST8SIA5	2.091328226	0	Enzyme: Sialyltransferase	BrainSpLMD|29906	OMIM|607162
IN-CTX-CGE2	PDZRN3	2.079724781	0	Unclassified	BrainSpLMD|23024;Eurexp|euxassay_000356|mantle layer	OMIM|609729
IN-CTX-CGE2	ERBB4	2.068300519	0	Receptor tyrosine kinase	BrainSpLMD|2066;Eurexp|euxassay_008088|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|13647	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600543;COSMIC||melanoma, gastric, NSCLC, Amyotrophic lateral sclerosis 19;HPO|2066|Adult onset, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Loss of ability to walk, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Xerostomia
IN-CTX-CGE2	FAM65B	2.005041344	0			
IN-CTX-CGE2	GRIK2	1.876437057	0	Extracellular ligand gated channel	BrainSpLMD|2898;Eurexp|euxassay_008383|cerebellum, cortex, diencephalon, footplate, hindgut, medulla oblongata, midbrain, midgut, pituitary, pons, spinal cord, stomach, telencephalon, tongue, trigeminal V;BrainSpMouseDev|14582	SFARI||Autism, 3 - Suggestive evidence;OMIM|138244;HPO|2898|Autosomal recessive inheritance, Global developmental delay, Infantile onset, Intellectual disability
IN-CTX-CGE2	DLX6.AS1	1.845182992	0			
IN-CTX-CGE2	FGF12	1.791885388	0	Growth factor	BrainSpLMD|2257;BrainSpMouseDev|13944	OMIM|601513;HPO|2257|Absent speech, Autosomal dominant inheritance, Cerebellar atrophy, Chronic constipation, Developmental regression, Epileptic encephalopathy, Feeding difficulties, Hypsarrhythmia, Inability to walk, Limb ataxia, Multifocal epileptiform discharges, Muscular hypotonia of the trunk, Poor speech, Status epilepticus, Variable expressivity
IN-CTX-CGE2	PCDH9	1.743835917	0	Adhesion molecule	BrainSpLMD|5101;Eurexp|euxassay_014258|facial VII, mantle layer, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|603581
IN-CTX-CGE2	CNR1	1.71974606	0	G protein coupled receptor	BrainSpLMD|1268;BrainSpMouseDev|12584	SFARI||Autism, 3 - Suggestive evidence;OMIM|114610
IN-CTX-CGE2	CELF4	1.544627331	0	RNA binding protein	BrainSpLMD|56853;Eurexp|euxassay_009241|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|612679
IN-CTX-CGE2	KITLG	1.465917925	0	Growth factor	BrainSpLMD|4254;Eurexp|euxassay_003584|dorsal root ganglion, glomeruli, mantle layer, marginal layer, naris, neural retina, olfactory, olfactory cortex, stroma, thymus primordium, trachea, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|17080	OMIM|184745;HPO|4254|Autosomal dominant inheritance, Cafe-au-lait spot, Heterochromia iridis, Hyperkeratosis, Hypopigmented skin patches, Infantile onset, Multiple lentigines, Premature graying of hair, Progressive hyperpigmentation, Sensorineural hearing impairment, White forelock
IN-CTX-CGE2	SOX2.OT	1.446670792	0			
IN-CTX-CGE2	PLS3	1.414897392	0	Structural protein	BrainSpLMD|5358	OMIM|300131;HPO|5358|Osteopenia, Osteoporosis, Vertebral compression fractures, X-linked dominant inheritance
IN-CTX-CGE2	NRXN3	1.393547159	0	Adhesion molecule	BrainSpLMD|9369;Eurexp|euxassay_009777|bladder, collecting ducts, inner ear, mantle layer, marginal layer, neural retina, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|600567
IN-CTX-CGE2	SLAIN1	1.363063925	0	Unclassified	BrainSpLMD|122060	OMIM|610491
IN-CTX-CGE2	ZNF536	1.353201411	0	DNA binding protein	BrainSpLMD|9745;Eurexp|euxassay_015751|adrenal gland, bladder, brain, cochlea, dorsal root ganglion, forelimb, glossopharyngeal IX, hindgut, hindlimb, limb, loop, lung, mandible, medullary stroma, midgut, molar, oesophagus, olfactory, penis, pituitary, rectum, retina, spinal cord, stomach, thyroid, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	
IN-CTX-CGE2	DLX1	1.330406224	0	Transcription factor	BrainSpLMD|1745;Eurexp|euxassay_008426|cochlea, epithelium, footplate, handplate, incisor, inner ear, mantle layer, midgut, naso-lacrimal duct, neural retina, oesophagus, paraxial mesenchyme, retina, skeletal muscle, skeleton, stomach, utricle, vibrissa;BrainSpMouseDev|13169	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600029
IN-CTX-CGE2	CCDC88A	1.263590916	0	Cytoskeletal protein	BrainSpLMD|55704;Eurexp|euxassay_012890|mantle layer, ventral grey horn	OMIM|609736;HPO|55704|Abnormality of the hand, Autosomal recessive inheritance, Cerebellar atrophy, Developmental stagnation, Edema, Epicanthus, Feeding difficulties in infancy, Full cheeks, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile encephalopathy, Intellectual disability, profound, Myoclonus, Narrow forehead, Neuronal loss in central nervous system, Open mouth, Optic atrophy, Pachygyria, Peripheral dysmyelination, Polymicrogyria, Progressive microcephaly, Retrognathia, Seizures, Severe muscular hypotonia, Short nose, Tented upper lip vermilion, Undetectable visual evoked potentials
IN-CTX-CGE2	RP11.588P7.1	1.230596399	0			
IN-CTX-CGE2	CHL1	1.229916901	0	Adhesion molecule	BrainSpLMD|10752;BrainSpMouseDev|12446	OMIM|607416;HPO|10752|Atrioventricular canal defect, Brachycephaly, Cleft palate, Cognitive impairment, Cryptorchidism, Downturned corners of mouth, Epicanthus, Hearing impairment, High palate, Hypertelorism, Intrauterine growth retardation, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscular hypotonia, Postaxial hand polydactyly, Ptosis, Short stature, Telecanthus
IN-CTX-CGE2	MTSS1	1.179608387	0	Cytoskeletal associated protein	BrainSpLMD|9788	OMIM|608486
IN-CTX-CGE2	GAD1	1.169579925	0	Enzyme: Decarboxylase	BrainSpLMD|2571;Eurexp|euxassay_005634|cerebral cortex, corpus striatum, hindbrain, incisor, mantle layer, marginal layer, molar, olfactory lobe, oral region, spinal cord, telencephalon;BrainSpMouseDev|14191	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605363;HPO|2571|Autosomal recessive inheritance, Babinski sign, Cerebral palsy, Flexion contracture, Global developmental delay, Heterogeneous, Hyperreflexia, Infantile onset, Intellectual disability, Microcephaly, Scoliosis, Seizures, Spastic diplegia, Spastic tetraplegia
IN-CTX-CGE2	DLX2	1.055426515	0	Transcription factor	BrainSpLMD|1746;BrainSpMouseDev|13171	SFARI||Autism, 4 - Minimal evidence;OMIM|126255
IN-CTX-CGE2	MEG3	1.048622545	0			OMIM|605636
IN-CTX-CGE2	DLX5	1.018184419	0	Transcription regulatory protein	BrainSpLMD|1749;BrainSpMouseDev|13174	OMIM|600028;HPO|1749|Autosomal recessive inheritance, Finger syndactyly, Oligodactyly, Sensorineural hearing impairment, Split foot, Split hand
IN-CTX-CGE2	TCF4	0.932029887	0	Transcription factor	BrainSpLMD|6925;BrainSpMouseDev|21174	SFARI||Autism, No category;OMIM|602272;HPO|6925|Abnormal large intestine physiology, Abnormality of the palate, Absent speech, Aggressive behavior, Anteverted nares, Aphasia, Ascites, Astigmatism, Ataxia, Autoimmunity, Autosomal dominant inheritance, Cirrhosis, Clinodactyly, Clubbing, Coarse facial features, Constipation, Cryptorchidism, Cupped ear, Deeply set eye, Dilated superficial abdominal veins, Dysautonomia, Dysphasia, Echolalia, Elevated alkaline phosphatase of hepatic origin, Elevated hepatic transaminases, Encephalopathy, Esophagitis, Failure of eruption of permanent teeth, Failure to thrive, Feeding difficulties, Fever, Full cheeks, Gait ataxia, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Hepatosplenomegaly, Hiatus hernia, Hypoplasia of the corpus callosum, Incoordination, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intermittent hyperventilation, Microcephaly, Micropenis, Misalignment of teeth, Motor delay, Muscular hypotonia, Mutism, Myopia, Narrow foot, Narrow forehead, Open mouth, Palmar telangiectasia, Pes planus, Pes valgus, Portal hypertension, Seizures, Short neck, Short philtrum, Single transverse palmar crease, Sleep apnea, Specific learning disability, Spider hemangioma, Splenomegaly, Strabismus, Tapered finger, Thick vermilion border, Thickened helices, Ulcerative colitis, Upslanted palpebral fissure, Weight loss, Wide mouth, Wide nasal bridge, Widely spaced teeth
IN-CTX-CGE2	DLX6	0.858589376	0	Transcription factor	BrainSpLMD|1750;BrainSpMouseDev|13175	SFARI||Autism, 4 - Minimal evidence;OMIM|600030;HPO|1750|Finger syndactyly, Oligodactyly
IN-CTX-CGE2	DCX	0.749857488	0	Cytoskeletal associated protein	BrainSpLMD|1641;Eurexp|euxassay_018537|brain, capsule, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|12973	SFARI||Autism, No category;OMIM|300121;HPO|1641|Agenesis of corpus callosum, Ataxia, Death in infancy, Dysarthria, Feeding difficulties, Hypertonia, Incomplete penetrance, Infantile onset, Intellectual disability, Intellectual disability, severe, Lissencephaly, Micropenis, Motor delay, Muscular hypotonia, Muscular hypotonia of the trunk, Nystagmus, Pachygyria, Postnatal growth retardation, Seizures, X-linked inheritance
IN-CTX-CGE2	SOX4	0.392917689	0	Transcription factor	BrainSpLMD|6659;Eurexp|euxassay_019583|cervical, cervico-thoracic, dorsal grey horn, dorsal root ganglion, incisor, lung, mantle layer, mesenchyme, metanephros, molar, neural retina, oesophagus, phalanx, submandibular gland primordium, testis, trachea, valve, vibrissa;BrainSpMouseDev|20439	OMIM|184430
IN-CTX-CGE2	NFIB	0.263214385	0	Transcription factor	BrainSpLMD|4781;BrainSpMouseDev|17795	OMIM|600728;COSMIC||adenoid cystic carcinoma, lipoma
IN-CTX-CGE2	SLC6A1	2.047596467	1.11E-16	Membrane transport protein	BrainSpLMD|6529;Eurexp|euxassay_018302|brain, glossopharyngeal IX, marginal layer, neural retina, spinal cord, vestibulocochlear VIII;BrainSpMouseDev|87401	SFARI||Autism, 2 - Strong candidate;OMIM|137165;HPO|6529|Abnormal brain FDG positron emission tomography, Absence seizures, Ataxia, Atonic seizures, Autosomal dominant inheritance, Developmental regression, Dysarthria, EEG with abnormally slow frequencies, EEG with spike-wave complexes (>3.5 Hz), Epileptic encephalopathy, Eyelid myoclonus, Intellectual disability, Mental deterioration, Myoclonic atonic seizures, Status epilepticus
IN-CTX-CGE2	NPAS3	1.472599518	1.11E-16	Transcription factor	BrainSpLMD|64067;Eurexp|euxassay_009424|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|27131	OMIM|609430
IN-CTX-CGE2	ZEB2	0.678537067	1.11E-16	Transcription regulatory protein	BrainSpLMD|9839;Eurexp|euxassay_005774|bladder, dorsal grey horn, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, lung, mantle layer, metanephros, midgut, nasal septum, penis, pharyngo-tympanic tube, stomach;BrainSpMouseDev|23887	OMIM|605802;HPO|9839|Abdominal distention, Abnormality of metabolism/homeostasis, Abnormality of the abdominal wall, Abnormality of the rib cage, Absent speech, Atrial septal defect, Autosomal dominant inheritance, Broad eyebrow, Delayed eruption of teeth, Drooling, Generalized hypotonia, Happy demeanor, Hypoplasia of the corpus callosum, Intellectual disability, moderate, Motor delay, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pulmonary artery sling, Pulmonary artery stenosis, Pulmonic stenosis, Supernumerary nipple, Ventricular septal defect, Vomiting, Widely spaced teeth
IN-CTX-CGE2	RPS23P8	1.124970366	2.22E-16			
IN-CTX-CGE2	RPL5P1	0.683934441	4.44E-16			
IN-CTX-CGE2	ANK3	0.800162255	1.44E-15	Adapter molecule	BrainSpLMD|288;BrainSpMouseDev|11522	SFARI||Autism, No category;OMIM|600465;HPO|288|Aggressive behavior, Autosomal recessive inheritance, Bruxism, Generalized hypotonia, Hyperactivity, Intellectual disability, Intellectual disability, moderate, Spasticity
IN-CTX-CGE2	FAM110B	0.941132933	4.55E-15	Unclassified	BrainSpLMD|90362	OMIM|611394
IN-CTX-CGE2	ARL4C	1.169481969	1.08E-14	GTPase	BrainSpLMD|10123;Eurexp|euxassay_016423|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII	OMIM|604787
IN-CTX-CGE2	RPL5P4	1.203434446	1.21E-14			
IN-CTX-CGE2	KCNJ3	2.525523131	1.97E-14	Inward rectifier channel	BrainSpLMD|3760	OMIM|601534
IN-CTX-CGE2	SHISA9	2.143210233	2.96E-14	Unclassified		OMIM|613346
IN-CTX-CGE2	NRXN1	0.838505373	7.56E-14	Cell surface receptor	BrainSpLMD|9378;Eurexp|euxassay_005585|arm, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, leg, midbrain, neural retina, olfactory, oral epithelium, respiratory, spinal cord, thoracic, trigeminal V, trunk mesenchyme, vagus X, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17956	SFARI||Autism, 2 - Strong candidate;OMIM|600565;HPO|9378|Autosomal recessive inheritance, Constipation, Drooling, Epileptic encephalopathy, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Hyperventilation, Intellectual disability, severe, Protruding tongue, Pulmonic stenosis, Scoliosis, Strabismus, Wide mouth
IN-CTX-CGE2	MALAT1	0.296674318	7.95E-14		BrainSpLMD|378938	OMIM|607924;COSMIC||renal cell carcinoma (childhood epithelioid), lung
IN-CTX-CGE2	ARX	1.006500909	1.18E-13	Transcription factor	BrainSpLMD|170302;Eurexp|euxassay_018148|floor plate, floorplate, mantle layer, mesenchyme, ovary, pancreas, paramesonephric duct, skeletal muscle, tarsus, ventricle, ventricular layer;BrainSpMouseDev|11665	SFARI||Autism, No category;OMIM|300382;HPO|170302|Abnormal hair pattern, Abnormality of skin morphology, Abnormality of the hip bone, Agenesis of corpus callosum, Ambiguous genitalia, Broad alveolar ridges, Choreoathetosis, Coarse facial features, Cryptorchidism, Death in infancy, Decreased testicular size, Delayed speech and language development, Developmental regression, Diarrhea, Duane anomaly, Dysarthria, Dysphagia, Dyspnea, Dystonia, EEG abnormality, Epileptic encephalopathy, Feeding difficulties in infancy, Flexion contracture, Focal dystonia, Generalized hirsutism, Generalized hypotonia, Generalized myoclonic seizures, Gliosis, Global developmental delay, Hemiplegia, High forehead, High palate, Hirsutism, Hyperconvex nail, Hyperreflexia, Hypohidrosis, Hypoplasia of penis, Hypospadias, Hypsarrhythmia, Infantile spasms, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Large eyes, Limb dystonia, Limb joint contracture, Lissencephaly, Long philtrum, Long upper lip, Low anterior hairline, Low-set ears, Lower limb spasticity, Malabsorption, Microcephaly, Micrognathia, Micropenis, Muscle stiffness, Muscular hypotonia, Muscular hypotonia of the trunk, Myoclonus, Neonatal hypotonia, Nystagmus, Optic atrophy, Overlapping toe, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Prominent supraorbital ridges, Protruding ear, Renal dysplasia, Rigidity, Scoliosis, Seizures, Severe global developmental delay, Short stature, Spastic tetraplegia, Spasticity, Specific learning disability, Status epilepticus, Strabismus, Synophrys, Tapered finger, Tetraplegia, Thin upper lip vermilion, Triangular face, Ventriculomegaly, Visual impairment, Wide anterior fontanel, Wide nasal bridge, X-linked inheritance, X-linked recessive inheritance
IN-CTX-CGE2	SDK2	1.371918634	1.43E-13	Adhesion molecule	BrainSpLMD|54549;Eurexp|euxassay_009454|clavicle, femur, mantle layer, tongue, ventral grey horn, ventricular layer	OMIM|607217
IN-CTX-CGE2	MIAT	0.828431003	7.19E-13			OMIM|611082
IN-CTX-CGE2	SCN3A	0.716649237	2.79E-12	Voltage gated channel	BrainSpLMD|6328	OMIM|182391
IN-CTX-CGE2	NR2F1.AS1	1.276337431	3.38E-12			
IN-CTX-CGE2	CHD7	0.96356542	5.99E-12	DNA binding protein	Eurexp|euxassay_010758|marginal layer, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|608892;HPO|55636|Abnormality of body height, Abnormality of female internal genitalia, Abnormality of lymphocytes, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Alopecia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bifid scrotum, Breast hypoplasia, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Desquamation of skin soon after birth, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysphagia, Edema, Eosinophilia, Erectile abnormalities, Erythroderma, Esophageal atresia, Eunuchoid habitus, External ear malformation, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Female hypogonadism, Fever, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Hepatomegaly, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphopenia, Malar flattening, Male hypogonadism, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Non-obstructive azoospermia, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Pneumonia, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Secondary amenorrhea, Sensorineural hearing impairment, Severe combined immunodeficiency, Sparse body hair, Splenomegaly, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Thickened skin, Tracheoesophageal fistula, Umbilical hernia, Ventricular septal defect, Wide intermamillary distance
IN-CTX-CGE2	TMTC4	1.76511465	7.73E-12	Integral membrane protein	BrainSpLMD|84899;Eurexp|euxassay_007002|embryo	
IN-CTX-CGE2	MYT1L	0.505214936	1.05E-11	Transcription factor	BrainSpLMD|23040;BrainSpMouseDev|17700	SFARI||Autism, 1 - High confidence;OMIM|613084;HPO|23040|Aggressive behavior, Autosomal dominant inheritance, Delayed speech and language development, Global developmental delay, Intellectual disability, Obesity
IN-CTX-CGE2	UNC79	1.403027234	2.18E-11	Unclassified	BrainSpLMD|57578	OMIM|616884
IN-CTX-CGE2	ZNF704	0.927389047	4.45E-11	Unclassified		
IN-CTX-CGE2	ATP8A1	1.282226743	4.68E-11	ATPase	BrainSpLMD|10396;Eurexp|euxassay_018768|anterior, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, neural retina, olfactory, rectum, right lung, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|11766	SFARI||Autism, 5 - Hypothesized but untested;OMIM|609542
IN-CTX-CGE2	KLHL35	1.513694511	5.53E-11	Cytoskeletal associated protein	BrainSpLMD|283212;Eurexp|euxassay_007584|ventricular layer	
IN-CTX-CGE2	LRRC1	1.698920505	7.69E-11	Unclassified	BrainSpLMD|55227	SFARI||Autism, 4 - Minimal evidence;OMIM|608195
IN-CTX-CGE2	NETO2	1.592638275	9.95E-11	Integral membrane protein	BrainSpLMD|81831;Eurexp|euxassay_009406|mantle layer, marginal layer	OMIM|607974
IN-CTX-CGE2	CDH10	1.531441106	1.14E-10	Adhesion molecule	BrainSpLMD|1008;Eurexp|euxassay_009792|mantle layer, nose, tegmentum;BrainSpMouseDev|107808	SFARI||Autism, 4 - Minimal evidence;OMIM|604555;COSMIC||melanoma, pancreatic ductal adenocarcinoma
IN-CTX-CGE2	CSMD3	1.647676421	1.32E-10	Integral membrane protein	BrainSpLMD|114788;Eurexp|euxassay_013996|mantle layer, tegmentum, ventricle	OMIM|608399;COSMIC||ovarian cancer, oral SCC, lung cancer
IN-CTX-CGE2	EEA1	1.179253453	1.32E-10	Membrane transport protein	BrainSpLMD|8411	OMIM|605070
IN-CTX-CGE2	AP1S2	1.590888383	1.50E-10	Transport/cargo protein	BrainSpLMD|8905;Eurexp|euxassay_004097|renal/urinary system	SFARI||Autism, No category;OMIM|300629;HPO|8905|Aggressive behavior, Aplasia/Hypoplasia of the cerebellum, Autistic behavior, Cerebral calcification, Cerebral cortical atrophy, Coarse facial features, Cryptorchidism, Gait disturbance, Global developmental delay, High palate, Hydrocephalus, Inguinal hernia, Intellectual disability, moderate, Long face, Macrocephaly, Macrotia, Muscular hypotonia, Poor speech, Scoliosis, Short philtrum, Spastic diplegia, Strabismus, Ventriculomegaly
IN-CTX-CGE2	SLIT1	1.766149566	2.41E-10	Ligand	BrainSpLMD|6585;BrainSpMouseDev|20324	OMIM|603742
IN-CTX-CGE2	CRIM1	1.268366256	3.59E-10	Integral membrane protein	BrainSpLMD|51232;Eurexp|euxassay_014038|lens, mantle layer, physiological umbilical hernia, ventral grey horn, vibrissa	OMIM|606189
IN-CTX-CGE2	MAGI1	1.201804594	5.95E-10	Cell junction protein	BrainSpLMD|9223;Eurexp|euxassay_016214|axial skeleton, clavicle, femur, fibula, humerus, pelvic girdle, rib, scapula, tibia	OMIM|602625
IN-CTX-CGE2	NR2F1	1.143669776	8.22E-10	Nuclear receptor	BrainSpLMD|7025;BrainSpMouseDev|13643	SFARI||Autism, 4 - Minimal evidence;OMIM|132890;HPO|7025|Autosomal dominant inheritance, Global developmental delay, Intellectual disability, Nystagmus, Optic atrophy, Optic disc pallor, Reduced visual acuity, Strabismus, Tapered finger, Visual field defect, Visual impairment
IN-CTX-CGE2	TNR	0.882227915	9.99E-10	Extracellular matrix protein	BrainSpLMD|7143;Eurexp|euxassay_012507|mantle layer, tegmentum, ventral grey horn	OMIM|601995
IN-CTX-CGE2	MYCBP2	0.999094883	1.09E-09	Transcription regulatory protein	BrainSpLMD|23077;Eurexp|euxassay_009485|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|69854	OMIM|610392
IN-CTX-CGE2	CPLX2	1.538069669	1.11E-09	Unclassified	BrainSpLMD|10814	OMIM|605033
IN-CTX-CGE2	ARID1B	0.746747924	1.16E-09	Transcription factor	BrainSpLMD|57492	SFARI||Autism, 1 - High confidence;OMIM|614556;COSMIC||breast, hepatocellular carcinoma;HPO|57492|Abnormal hair pattern, Abnormality of cardiovascular system morphology, Abnormality of the dentition, Abnormality of the metacarpal bones, Abnormality of the pinna, Abnormality of vision, Absence seizures, Agenesis of corpus callosum, Aggressive behavior, Alopecia, Anteverted nares, Aphasia, Aplasia of the uterus, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Astigmatism, Atrial septal defect, Autistic behavior, Autosomal dominant inheritance, Autosomal recessive inheritance, Blepharophimosis, Brachydactyly, Broad distal phalanx of finger, Broad nasal tip, Bulbous nose, Choanal atresia, Cleft palate, Clubbing of toes, Coarse facial features, Congenital diaphragmatic hernia, Coxa valga, Cryptorchidism, Curly eyelashes, Cutis marmorata, Dandy-Walker malformation, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Depressed nasal ridge, Dislocated radial head, Downslanted palpebral fissures, Duodenal ulcer, Dysphasia, Echolalia, Ectopic kidney, Eczema, Elbow dislocation, Epicanthus, Epileptic spasms, Everted lower lip vermilion, Excessive wrinkled skin, Facial hypertrichosis, Failure to thrive, Feeding difficulties in infancy, Gastric ulcer, Generalized hirsutism, Global developmental delay, Hearing impairment, Hemangioma, High palate, High, narrow palate, Highly arched eyebrow, Hydronephrosis, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplastic fifth fingernail, Hypospadias, Hypotelorism, Hypotrichosis, Inguinal hernia, Intellectual disability, Intellectual disability, mild, Intestinal malrotation, Intrauterine growth retardation, Intussusception, Joint dislocation, Joint hyperflexibility, Joint laxity, Kyphosis, Long eyelashes, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Lumbosacral hirsutism, Malar flattening, Microcephaly, Muscular hypotonia, Mutism, Myopia, Narrow nasal bridge, Nystagmus, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Phenotypic variability, Plagiocephaly, Posteriorly rotated ears, Postnatal growth retardation, Preauricular skin tag, Prominent interphalangeal joints, Ptosis, Recurrent respiratory infections, Renal hypoplasia, Sacral dimple, Sandal gap, Scoliosis, Seizures, Sensorineural hearing impairment, Severe expressive language delay, Severe short stature, Short distal phalanx of finger, Short distal phalanx of the 5th finger, Short distal phalanx of the 5th toe, Short palm, Short palpebral fissure, Short stature, Short sternum, Single transverse palmar crease, Slow-growing hair, Smooth philtrum, Sparse scalp hair, Specific learning disability, Spina bifida occulta, Status epilepticus, Strabismus, Tetralogy of Fallot, Thick eyebrow, Thick lower lip vermilion, Thick nasal alae, Thin upper lip vermilion, Thin vermilion border, Triangular face, Umbilical hernia, Ventricular septal defect, Visual impairment, Wide intermamillary distance, Wide mouth, Wide nasal bridge
IN-CTX-CGE2	ELOVL6	1.209297159	2.77E-09	Unclassified	BrainSpLMD|79071;Eurexp|euxassay_007796|embryo	OMIM|611546
IN-CTX-CGE2	METAP1D	1.297299163	3.03E-09		BrainSpLMD|254042	OMIM|610267
IN-CTX-CGE2	RP11.778D9.4	1.066444389	6.01E-09			
IN-CTX-CGE2	VCAN	0.727951133	2.41E-08	Extracellular matrix protein	BrainSpLMD|1462	OMIM|118661;HPO|1462|Autosomal dominant inheritance, Cataract, Chorioretinal atrophy, Glaucoma, Myopia, Optic atrophy, Optically empty vitreous, Peripheral traction retinal detachment, Retinal pigment epithelial atrophy, Visual field defect, Visual loss, Vitreoretinal degeneration
IN-CTX-CGE2	WWP1	1.492563157	2.55E-08	Ubiquitin proteasome system protein	BrainSpLMD|11059	OMIM|602307
IN-CTX-CGE2	SLIRP	0.379053758	3.92E-08	RNA binding protein	BrainSpLMD|81892	OMIM|610211
IN-CTX-CGE2	RSRC2	0.283843428	4.87E-08	Unclassified	BrainSpLMD|65117	
IN-CTX-CGE2	DAPK1	0.818453104	6.01E-08	Serine/threonine kinase	BrainSpLMD|1612	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600831
IN-CTX-CGE2	INA	0.74046247	6.78E-08	Cytoskeletal protein	BrainSpLMD|9118;Eurexp|euxassay_012424|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|605338
IN-CTX-CGE2	WBP11	0.266566161	6.88E-08	RNA binding protein	BrainSpLMD|51729	
IN-CTX-CGE2	FGF9	1.818940556	9.15E-08	Growth factor	BrainSpLMD|2254;BrainSpMouseDev|13957	OMIM|600921;HPO|2254|Autosomal dominant inheritance, Cubitus valgus, Humeroradial synostosis, Limited interphalangeal movement, Metacarpal synostosis, Metatarsal synostosis
IN-CTX-CGE2	UQCRB	0.643818693	1.16E-07	Enzyme: Reductase	BrainSpLMD|7381;Eurexp|euxassay_002757|basal plate, dorsal root ganglion, epidermal component, lung, trigeminal V, vagus X, ventricular layer	OMIM|191330;HPO|7381|Autosomal recessive inheritance, Hypoglycemia, Metabolic acidosis
IN-CTX-CGE2	ELAVL4	0.735254646	1.17E-07	RNA binding protein	BrainSpLMD|1996	OMIM|168360
IN-CTX-CGE2	GNG2	0.928643283	2.33E-07	G protein	BrainSpLMD|54331;Eurexp|euxassay_003975|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606981
IN-CTX-CGE2	CDH2	0.695805547	2.75E-07	Adhesion molecule	BrainSpLMD|1000;Eurexp|euxassay_003128|L1, L2, L3, L4, L5, Meckel's cartilage, annulus fibrosus, axial skeleton, basisphenoid bone, brain, cervical, cervico-thoracic, chondrocranium, cortex, cranium, dorsal root ganglion, epidermis, exoccipital bone, facial VII, foregut-midgut junction, forelimb, frontal bone primordium, glossopharyngeal IX, head mesenchyme, hindgut, hindlimb, incisor, leg, lip, lumbar region, mesenchyme, midgut, molar, neural retina, nucleus polposus, nucleus pulposus, olfactory, orbito-sphenoid, penis, pituitary, rib, sacral region, skin, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|12343	OMIM|114020
IN-CTX-CGE2	GLRA2	1.82754965	3.19E-07	Extracellular ligand gated channel	BrainSpLMD|2742;Eurexp|euxassay_006123|brain, spinal cord;BrainSpMouseDev|88304	SFARI||Autism, 5 - Hypothesized but untested;OMIM|305990
IN-CTX-CGE2	ANKS1B	1.209606494	4.63E-07	Transcription regulatory protein	BrainSpLMD|56899	SFARI||Autism, No category;OMIM|607815
IN-CTX-CGE2	CXCR4	1.120649146	5.08E-07	G protein coupled receptor	BrainSpLMD|7852;Eurexp|euxassay_006007|cervical, cervico-thoracic, corpus striatum, incisor, mantle layer, mitral valve, molar, neural retina, olfactory, thoracic, thymus primordium, valve, ventricular layer, vibrissa;BrainSpMouseDev|12551	OMIM|162643;COSMIC||WM;HPO|7852|Abnormality of female external genitalia, Abnormality of female internal genitalia, Autosomal dominant inheritance, Bone marrow hypercellularity, Bronchiectasis, Decreased antibody level in blood, IgG deficiency, Infantile onset, Myelokathexis, Neutropenia, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Verrucae
IN-CTX-CGE2	EEF1A1P11	0.345996806	5.14E-07			
IN-CTX-CGE2	RBMXL1	0.87836449	5.15E-07	-		
IN-CTX-CGE2	MTUS1	1.087900919	5.77E-07	Growth inhibitory factor	BrainSpLMD|57509	OMIM|609589
IN-CTX-CGE2	DSCAML1	0.896014941	6.62E-07	Adhesion molecule	BrainSpLMD|57453;Eurexp|euxassay_015851|dorsal grey horn, mantle layer, olfactory, vomeronasal organ;BrainSpMouseDev|77592	OMIM|611782
IN-CTX-CGE2	RP11.278C7.1	0.47333325	7.50E-07			
IN-CTX-CGE2	EPHA5	0.972189981	9.87E-07	Receptor tyrosine kinase	BrainSpLMD|2044;Eurexp|euxassay_018953|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|13617	OMIM|600004
IN-CTX-CGE2	GRIN2B	1.100906858	1.13E-06	Extracellular ligand gated channel	BrainSpLMD|2904;BrainSpMouseDev|14588	SFARI||Autism, 1 - High confidence;OMIM|138252;HPO|2904|Abnormality of skin morphology, Absent speech, Autosomal dominant inheritance, Behavioral abnormality, Developmental regression, EEG abnormality, Epileptic encephalopathy, Generalized hypotonia, Global developmental delay, Hypsarrhythmia, Infantile spasms, Intellectual disability, Myoclonus, Seizures, Variable expressivity
IN-CTX-CGE2	UQCRC1	0.444373032	1.15E-06	Enzyme: Reductase	BrainSpLMD|7384;Eurexp|euxassay_018647|axial muscle, bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, mantle layer, metanephros, right lung, submandibular gland primordium, trigeminal V, vagus X, ventral grey horn, vibrissa	OMIM|191328
IN-CTX-CGE2	CHMP1B	0.251340193	1.29E-06	Transport/cargo protein	BrainSpLMD|57132	OMIM|606486
IN-CTX-CGE2	UQCR11	0.398668418	1.29E-06	Enzyme: Reductase	BrainSpLMD|10975	OMIM|609711
IN-CTX-CGE2	NAV3	0.928631287	1.31E-06	Unclassified	BrainSpLMD|89795	OMIM|611629
IN-CTX-CGE2	SMC1A	0.856565609	1.31E-06	Cell cycle control protein	BrainSpLMD|8243	SFARI||Autism, No category;OMIM|300040;COSMIC||AML, Cornelia de Lange syndrome;HPO|8243|Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Brachydactyly, Clinodactyly, Clinodactyly of the 5th finger, Cognitive impairment, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downslanted palpebral fissures, Downturned corners of mouth, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hirsutism, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Limited elbow movement, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Narrow forehead, Neurological speech impairment, Obsessive-compulsive behavior, Phthisis bulbi, Poor speech, Premature birth, Prominent nasal bridge, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Smooth philtrum, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Ventriculomegaly, Vesicoureteral reflux, Widely spaced teeth, X-linked dominant inheritance, X-linked recessive inheritance
IN-CTX-CGE2	ENSA	0.287639367	1.65E-06	Ligand	BrainSpLMD|2029	OMIM|603061
IN-CTX-CGE2	HSPA9	0.389715117	1.70E-06	Chaperone	BrainSpLMD|3313	OMIM|600548;HPO|3313|Agenesis of corpus callosum, Atopic dermatitis, Autosomal dominant inheritance, Autosomal recessive inheritance, Brachycephaly, Coronal cleft vertebrae, Dysplasia of the femoral head, Epiphyseal dysplasia, High palate, Highly arched eyebrow, Hypodontia, Midface retrusion, Oligohydramnios, Patent foramen ovale, Recurrent urinary tract infections, Renal hypoplasia, Severe short stature, Short neck, Short nose, Sideroblastic anemia, Sparse hair
IN-CTX-CGE2	ANKRD11	0.304813336	2.89E-06	Transcription regulatory protein	BrainSpLMD|29123	SFARI||Autism, 2 - Strong candidate;OMIM|611192;HPO|29123|Anteverted nares, Autism, Autosomal dominant inheritance, Cervical ribs, Clinodactyly, Colpocephaly, Cryptorchidism, Delayed skeletal maturation, Frontal bossing, Global developmental delay, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Intellectual disability, moderate, Long palpebral fissure, Long philtrum, Low anterior hairline, Low posterior hairline, Macrodontia, Macrotia, Microcephaly, Micrognathia, Oligodontia, Optic nerve hypoplasia, Periventricular gray matter heterotopia, Pointed chin, Protruding ear, Radial deviation of finger, Rib fusion, Round face, Seizures, Short stature, Single transverse palmar crease, Smooth philtrum, Syndactyly, Telecanthus, Thick eyebrow, Thoracic kyphosis, Triangular face, Underdeveloped nasal alae, Ventriculomegaly, Vertebral arch anomaly, Vertebral fusion, Wide mouth, Widely-spaced maxillary central incisors
IN-CTX-CGE2	TMEM258	0.528435094	3.36E-06	Integral membrane protein	BrainSpLMD|746	OMIM|617615
IN-CTX-CGE2	PDS5B	0.819636491	4.10E-06	Transcription factor	BrainSpLMD|23047	OMIM|605333
IN-CTX-CGE2	NBPF12	0.673271635	4.12E-06			OMIM|608607
IN-CTX-CGE2	FNBP4	0.419887819	4.91E-06	Unclassified	BrainSpLMD|23360	OMIM|615265
IN-CTX-CGE2	MED28	0.261160002	5.37E-06	Transcription regulatory protein	BrainSpLMD|80306	OMIM|610311
IN-CTX-CGE2	APC	0.624761429	1.09E-05	Adhesion molecule	BrainSpLMD|324;Eurexp|euxassay_007660|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|11576	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611731;COSMIC||colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS, colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS;HPO|324|Abdominal pain, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Adenomatous colonic polyposis, Adrenocortical carcinoma, Astrocytoma, Autosomal dominant inheritance, Colon cancer, Desmoid tumors, Epidermoid cyst, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hyperpigmentation of the skin, Intestinal polyposis, Keloids, Malabsorption, Micronodular cirrhosis, Multiple gastric polyps, Multiple lipomas, Myalgia, Neoplasm of the stomach, Odontoma, Renal cell carcinoma, Small intestine carcinoid, Somatic mutation, Stomach cancer, Subacute progressive viral hepatitis, Subcutaneous nodule, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Variable expressivity
IN-CTX-CGE2	ASAP1	0.299791138	1.17E-05	GTPase activating protein	BrainSpLMD|50807	OMIM|605953
IN-CTX-CGE2	ABRACL	0.757833615	1.36E-05	Unclassified	BrainSpLMD|58527	
IN-CTX-CGE2	EIF5A	0.407073971	1.56E-05	Translation Factor	BrainSpLMD|1984	OMIM|600187
IN-CTX-CGE2	DST	0.712125678	1.84E-05	Cytoskeletal associated protein	BrainSpLMD|667;Eurexp|euxassay_016245|incisor, molar, oesophagus, olfactory, oral epithelium, stomach, urethra, vibrissa;BrainSpMouseDev|13297	SFARI||Autism, 4 - Minimal evidence;OMIM|113810;HPO|667|Alacrima, Apnea, Areflexia, Atrophic scars, Autosomal recessive inheritance, Blotching pigmentation of the skin, Bradycardia, Corneal scarring, Feeding difficulties, Fever, Flexion contracture, Growth delay, Hand clenching, Hyperhidrosis, Limited hip extension, Neonatal hypotonia, Open mouth, Respiratory insufficiency, Sensory neuropathy, Tachycardia, Talipes equinovarus
IN-CTX-CGE2	CADPS	0.750485076	1.96E-05	Membrane transport protein	BrainSpLMD|8618;Eurexp|euxassay_006311|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral wall, mantle layer, meninges, neural retina, olfactory, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|604667
IN-CTX-CGE2	RGS12	0.872796538	2.32E-05	GTPase activating protein	BrainSpLMD|6002	OMIM|602512
IN-CTX-CGE2	SYT14	0.756082236	2.47E-05	Membrane transport protein	BrainSpLMD|255928	OMIM|610949;HPO|255928|Autosomal recessive inheritance, Cerebellar atrophy, Dysarthria, Global developmental delay, Impaired smooth pursuit, Limb ataxia, Slow progression, Truncal ataxia
IN-CTX-CGE2	ATOX1	1.028339969	3.10E-05	Chaperone	BrainSpLMD|475	OMIM|602270
IN-CTX-CGE2	NDUFA5P11	1.33944368	3.22E-05			
IN-CTX-CGE2	C8orf59	0.681320761	3.23E-05	Unclassified	BrainSpLMD|401466	
IN-CTX-CGE2	ADRBK2	1.101601793	3.54E-05			
IN-CTX-CGE2	RIMS1	0.955753918	4.13E-05	Transport/cargo protein	BrainSpLMD|22999	SFARI||Autism, 2 - Strong candidate;OMIM|606629;HPO|22999|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal dominant inheritance, Bull's eye maculopathy, Cone/cone-rod dystrophy, Nyctalopia, Photophobia, Retinal flecks, Visual impairment
IN-CTX-CGE2	OTUD6B.AS1	0.921264801	4.29E-05			
IN-CTX-CGE2	ANKRD36C	0.700337205	4.70E-05			
IN-CTX-CGE2	SNRPA1	0.494942939	4.90E-05	Ribonucleoprotein	BrainSpLMD|6627;Eurexp|euxassay_002737|adrenal gland, calyces, dorsal root ganglion, lobe, oesophagus, olfactory, submandibular gland primordium, thymus primordium	OMIM|603521
IN-CTX-CGE2	RUFY2	0.867652148	5.23E-05	Unclassified	BrainSpLMD|55680	OMIM|610328
IN-CTX-CGE2	SKP1P1	0.494280285	5.49E-05			
IN-CTX-CGE2	NDUFB4	0.616753097	5.57E-05	Enzyme: Oxidoreductase		OMIM|603840
IN-CTX-CGE2	PPM1A	0.412051245	5.70E-05	Serine/threonine phosphatase	BrainSpLMD|5494;Eurexp|euxassay_003492|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, testis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|606108
IN-CTX-CGE2	IGDCC4	1.025405212	5.81E-05	Cell surface receptor	BrainSpLMD|57722;Eurexp|euxassay_007736|diaphragm, footplate, handplate, mantle layer, mesenchyme, oesophagus, rest of mesenchyme, skeletal muscle, tongue, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|616810
IN-CTX-CGE2	HIP1R	0.916978991	5.82E-05	Cytoskeletal associated protein	BrainSpLMD|9026;Eurexp|euxassay_012046|basisphenoid bone, clavicle, dorsal root ganglion, epidermis, epithelium, exoccipital bone, facial VII, fibula, fundus region, glossopharyngeal IX, incisor, larynx, lobe, mantle layer, metanephros, metatarsus, midgut, molar, naris, neural retina, oesophagus, olfactory, orbito-sphenoid, pancreas, petrous part, pharyngo-tympanic tube, pituitary, rectum, rib, stomach, submandibular gland primordium, tarsus, temporal bone, thymus primordium, thyroid, tibia, trachea, trigeminal V, turbinate, urethra, vibrissa	OMIM|605613
IN-CTX-CGE2	SUMO1P3	0.442909129	5.88E-05		BrainSpLMD|474338	
IN-CTX-CGE2	PPP1R12B	0.824778248	5.93E-05	Regulatory/other subunit	BrainSpLMD|4660	OMIM|603768
IN-CTX-CGE2	RTN1	0.407565501	5.94E-05	Integral membrane protein	BrainSpLMD|6252;Eurexp|euxassay_003752|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, penis, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|600865
IN-CTX-CGE2	RIMS2	1.314865929	6.52E-05	Unclassified	BrainSpLMD|9699	OMIM|606630
IN-CTX-CGE2	DCUN1D1	0.379582128	6.60E-05	Unclassified	BrainSpLMD|54165;BrainSpMouseDev|77609	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605905
IN-CTX-CGE2	GAS2L3	0.871730378	7.03E-05	Cytoskeletal protein	BrainSpLMD|283431	OMIM|617224
IN-CTX-CGE2	CBX1	0.933526641	7.09E-05	DNA binding protein	BrainSpLMD|10951;Eurexp|euxassay_018066|cortex, incisor, lung, marginal layer, molar, neural retina, olfactory, orbito-sphenoid, petrous part, pituitary, skeletal muscle, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|604511
IN-CTX-CGE2	CD24P4	0.556921125	9.91E-05			
IN-CTX-CGE2	STXBP5L	1.084767265	0.000111309	Transport/cargo protein	Eurexp|euxassay_011926|mantle layer	OMIM|609381
IN-CTX-CGE2	NADK2	0.259897112	0.000115433	Unclassified	BrainSpLMD|133686	OMIM|615787;HPO|133686|Autosomal recessive inheritance, Cerebral atrophy, Choreoathetosis, Cortical visual impairment, Death in infancy, Decreased plasma free carnitine, Dystonia, Encephalopathy, Failure to thrive, Global developmental delay, Hyperlysinemia, Leukodystrophy, Microcephaly, Muscular hypotonia, Neonatal hypotonia, Nystagmus, Seizures, Spasticity, Tetraplegia, Ventriculomegaly
IN-CTX-CGE2	CCT3	0.258365457	0.000129553	Chaperone	BrainSpLMD|7203	OMIM|600114
IN-CTX-CGE2	SCP2	0.728384422	0.000132486	Membrane transport protein	BrainSpLMD|6342	SFARI||Autism, 4 - Minimal evidence;OMIM|184755;HPO|6342|Abnormal motor neuron morphology, Abnormality of saccadic eye movements, Abnormality of thalamus morphology, Autosomal recessive inheritance, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Hyposmia, Intention tremor, Leukoencephalopathy, Peripheral neuropathy, Torticollis
IN-CTX-CGE2	PID1	0.929746423	0.000141401	Unclassified	BrainSpLMD|55022	OMIM|612930
IN-CTX-CGE2	SLCO5A1	1.482421986	0.000149252	Membrane transport protein	BrainSpLMD|81796;Eurexp|euxassay_019698|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, pericardium, trigeminal V, vestibulocochlear VIII	OMIM|613543
IN-CTX-CGE2	CADM1	0.599672354	0.000166875	Adhesion molecule	BrainSpLMD|23705;Eurexp|euxassay_014807|Meckel's cartilage, brain, cervical, cervico-thoracic, cochlea, cortex, dorsal root ganglion, facial VII, frontal bone primordium, glossopharyngeal IX, incisor, lung, molar, olfactory, orbito-sphenoid, pharyngo-tympanic tube, pituitary, spinal cord, submandibular gland primordium, thoracic, trachea, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|34014	SFARI||Autism, 4 - Minimal evidence;OMIM|605686
IN-CTX-CGE2	WASF2	0.311587253	0.000192072	Cytoskeletal associated protein	BrainSpLMD|10163	OMIM|605875
IN-CTX-CGE2	DYNC1H1	0.329888046	0.000203873	ATPase	BrainSpLMD|1778;Eurexp|euxassay_008019|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|600112;HPO|1778|Abnormality of the foot, Autosomal dominant inheritance, Childhood onset, Decreased motor nerve conduction velocity, Decreased patellar reflex, Difficulty running, Distal muscle weakness, Distal sensory impairment, Downslanted palpebral fissures, EMG: neuropathic changes, Focal seizures, Frequent falls, Gait disturbance, Hyporeflexia, Intellectual disability, Limb muscle weakness, Microcephaly, Motor delay, Muscular hypotonia, Pachygyria, Pes cavus, Phenotypic variability, Plagiocephaly, Prominent forehead, Proximal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Seizures, Sensory impairment, Slow progression, Spinal muscular atrophy, Type 2 muscle fiber predominance, Waddling gait
IN-CTX-CGE2	RAB3IP	1.250747683	0.000209517	Guanine nucleotide exchange factor;Unclassified	BrainSpLMD|117177;Eurexp|euxassay_007883|calyces, hindgut, loop, stomach	OMIM|608686
IN-CTX-CGE2	NBPF15	1.456468974	0.000216493	Unclassified		OMIM|614005
IN-CTX-CGE2	APOPT1	1.232367129	0.000220345	Unclassified	BrainSpLMD|84334	OMIM|616003;HPO|84334|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
IN-CTX-CGE2	MSL1	0.259915575	0.000232101	Transcription factor		OMIM|614801
IN-CTX-CGE2	ROBO1	0.810197029	0.000263069	Adhesion molecule	BrainSpLMD|6091;Eurexp|euxassay_009691|adrenal gland, extrinsic ocular muscle, incisor, lip, mandible, mantle layer, metanephros, metatarsus, midgut, molar, nasal septum, palatal shelf, penis, phalanx, tarsus, turbinate bones, ventral grey horn, vibrissa;BrainSpMouseDev|19639	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602430
IN-CTX-CGE2	PIAS2	1.01630624	0.000274826	Transcription regulatory protein	BrainSpLMD|9063	OMIM|603567
IN-CTX-CGE2	UFM1	0.384825614	0.00028662	Unclassified	BrainSpLMD|51569	OMIM|610553
IN-CTX-CGE2	RAB11B	0.284032173	0.000286895	GTPase activating protein	BrainSpLMD|9230	OMIM|604198
IN-CTX-CGE2	YTHDC1	0.486010088	0.000289141	RNA binding protein	BrainSpLMD|91746	OMIM|617283
IN-CTX-CGE2	RAB3GAP1	0.423906867	0.000292175	GTPase activating protein		OMIM|602536;HPO|22930|Abnormal dermatoglyphics, Abnormal toenail morphology, Abnormality of retinal pigmentation, Abnormality of the distal phalanx of finger, Abnormality of visual evoked potentials, Agenesis of corpus callosum, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Brachycephaly, Cataract, Cerebellar hypoplasia, Cerebral atrophy, Cerebral cortical atrophy, Clitoral hypoplasia, Congenital cataract, Cortical visual impairment, Cryptorchidism, Deeply set eye, Delayed puberty, Depressed nasal bridge, Everted lower lip vermilion, External genital hypoplasia, Facial hypertrichosis, Failure to thrive, Feeding difficulties in infancy, Furrowed tongue, Generalized hirsutism, Generalized hypotonia, Global developmental delay, High palate, Hyperlordosis, Hyperreflexia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplastic labia minora, Hypotelorism, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphoscoliosis, Kyphosis, Lissencephaly, Low posterior hairline, Low-set, posteriorly rotated ears, Macrotia, Malar flattening, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Midface retrusion, Misalignment of teeth, Muscular hypotonia, Optic atrophy, Osteoporosis, Pachygyria, Prematurely aged appearance, Ptosis, Scoliosis, Short nose, Short philtrum, Short stature, Spastic diplegia, Spasticity, Ulnar deviation of finger, Wide nasal bridge
IN-CTX-CGE2	VASH2	0.835591299	0.00031102	Unclassified	BrainSpLMD|79805	OMIM|610471
IN-CTX-CGE2	AKAP7	0.631603508	0.000324796	Anchor protein	BrainSpLMD|9465	OMIM|604693
IN-CTX-CGE2	CAMK2N1	0.765577941	0.000333086	Unclassified	BrainSpLMD|55450	OMIM|614986
IN-CTX-CGE2	SETD2	0.402135323	0.000339484	DNA binding protein	BrainSpLMD|29072	SFARI||Autism, 3 - Suggestive evidence;OMIM|612778;COSMIC||clear cell renal carcinoma;HPO|29072|Abnormality of immune system physiology, Accelerated skeletal maturation, Advanced eruption of teeth, Advanced ossification of carpal bones, Aggressive behavior, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Arnold-Chiari malformation, Autistic behavior, Autosomal dominant inheritance, Conductive hearing impairment, Delayed speech and language development, Depressed nasal ridge, Dolichocephaly, Downslanted palpebral fissures, Feeding difficulties in infancy, Frontal bossing, Generalized hypotonia, Global developmental delay, High anterior hairline, High forehead, High palate, Hirsutism, Hypertelorism, Hypoglycemia, Intellectual disability, Long face, Long foot, Long nose, Macrocephaly, Macrotia, Malar flattening, Mandibular prognathia, Menstrual irregularities, Muscular hypotonia, Obesity, Overgrowth, Phenotypic variability, Pointed chin, Polycystic ovaries, Polyphagia, Precocious puberty, Prominent forehead, Recurrent otitis media, Seizures, Short stature, Shyness, Slurred speech, Syringomyelia, Tall stature, Ventriculomegaly
IN-CTX-CGE2	HNRNPA0	0.356215657	0.000342433	Ribonucleoprotein	BrainSpLMD|10949	OMIM|609409
IN-CTX-CGE2	LUC7L	0.324676621	0.000348958	Unclassified	BrainSpLMD|55692	OMIM|607782
IN-CTX-CGE2	BOD1L1	0.655099957	0.000357257	Unclassified	BrainSpLMD|259282	OMIM|616746
IN-CTX-CGE2	CBR4	0.701318189	0.000372513	Unclassified	BrainSpLMD|84869	
IN-CTX-CGE2	SYT1	0.369678365	0.000387356	Calcium binding protein	BrainSpLMD|6857;Eurexp|euxassay_018026|adrenal gland, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, epithelium, external, facial VII, foregut-midgut junction, glossopharyngeal IX, hindbrain, hindgut, incisor, limb, mantle layer, marginal layer, mesenchyme, midbrain, midgut, neural retina, oesophagus, olfactory, oral epithelium, pectoralis major, pectoralis minor, pituitary, retina, spinal cord, stomach, stroma, thoracic, tongue, trigeminal V, ureter, urethra, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|20740	OMIM|185605
IN-CTX-CGE2	ZCCHC17	0.358428082	0.000401911	RNA binding protein	BrainSpLMD|51538	
IN-CTX-CGE2	SUZ12P1	0.827523468	0.000463476		BrainSpLMD|440423	
IN-CTX-CGE2	CCT8P1	0.880128699	0.000468364			
IN-CTX-CGE2	SMIM7	0.3428262	0.00048768	Unclassified	BrainSpLMD|79086	
IN-CTX-CGE2	PAIP2	0.329981518	0.000494003	Translation regulatory protein	BrainSpLMD|51247;Eurexp|euxassay_006511|embryo	OMIM|605604
IN-CTX-CGE2	WDR83OS	0.396689227	0.000505585	Integral membrane protein	BrainSpLMD|51398	
IN-CTX-CGE2	AC012358.8	0.705374186	0.000571819			
IN-CTX-CGE2	SGIP1	0.962150445	0.0005788	Unclassified	BrainSpLMD|84251;Eurexp|euxassay_001827|brain, spinal cord, trigeminal V	OMIM|611540
IN-CTX-CGE2	TNRC6C	0.882668605	0.0005842	RNA binding protein	BrainSpLMD|57690	OMIM|610741
IN-CTX-CGE2	BCCIP	0.267223134	0.000629088	Cell cycle control protein	BrainSpLMD|56647;Eurexp|euxassay_006212|axial muscle, cortex, orbito-sphenoid, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|611883
IN-CTX-CGE2	WAC.AS1	1.314364636	0.000649635			
IN-CTX-CGE2	NHLRC2	0.256107707	0.000651325	Unclassified	BrainSpLMD|374354;Eurexp|euxassay_000151|incisor, inferior, oculomotor III, olfactory I, optic II, trigeminal V, vagus X, valve, ventricular layer	
IN-CTX-CGE2	ASAH1	0.415793646	0.000732971	Enzyme: Hydrolase	BrainSpLMD|427;Eurexp|euxassay_004481|lung	OMIM|613468;HPO|427|Areflexia, Arthralgia, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Cherry red spot of the macula, Decreased muscle mass, Degeneration of anterior horn cells, Dementia, Difficulty walking, EEG abnormality, EMG abnormality, Facial palsy, Failure to thrive, Frequent falls, Gait disturbance, Generalized myoclonic seizures, Gowers sign, Hepatomegaly, Hoarse cry, Intellectual disability, Irritability, Joint stiffness, Joint swelling, Juvenile onset, Kyphosis, Laryngomalacia, Lipogranulomatosis, Motor delay, Myoclonus, Neurological speech impairment, Nystagmus, Oral-pharyngeal dysphagia, Osteoporosis, Periarticular subcutaneous nodules, Progressive, Progressive distal muscular atrophy, Recurrent respiratory infections, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scoliosis, Short stature, Spinal muscular atrophy, Splenomegaly, Tongue fasciculations, Tremor, Variable expressivity
IN-CTX-CGE2	EIF3J	0.311641733	0.000756442	Translation regulatory protein	BrainSpLMD|8669	OMIM|603910
IN-CTX-CGE2	KRAS	1.101359828	0.000785145	GTPase	BrainSpLMD|3845	OMIM|190070;COSMIC||pancreatic, colorectal, lung, thyroid, AML, other tumour types;HPO|3845|Abdominal pain, Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of cardiovascular system morphology, Abnormality of coagulation, Abnormality of dental color, Abnormality of dental morphology, Abnormality of finger, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Abnormality of the spleen, Abnormality of the ulna, Abnormality of the ureter, Abnormality of toe, Abnormality of vision, Absent eyebrow, Absent septum pellucidum, Acute myeloid leukemia, Adenoma sebaceum, Aganglionic megacolon, Agenesis of corpus callosum, Alopecia, Alveolar cell carcinoma, Anteverted nares, Anxiety, Aphasia, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the skin, Arrhythmia, Asymmetric growth, Atrial septal defect, Atrial septal dilatation, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Basal cell carcinoma, Biparietal narrowing, Blepharophimosis, Bone cyst, Brachydactyly, Breast carcinoma, Brittle hair, Broad forehead, Capillary hemangiomas, Cavernous hemangioma, Cerebral calcification, Cerebral cortical atrophy, Chronic atrophic gastritis, Coarctation of aorta, Coarse facial features, Coarse hair, Coloboma, Colon cancer, Constipation, Corneal opacity, Cranial asymmetry, Craniofacial hyperostosis, Cryptorchidism, Curly hair, Cystic hygroma, Death in early adulthood, Death in infancy, Deep palmar crease, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Downslanted palpebral fissures, Dry skin, Dysarthria, Dysphasia, Dystrophic fingernails, EEG abnormality, Echolalia, Enlarged thorax, Epibulbar dermoid, Epicanthus, Excessive wrinkled skin, Facial asymmetry, Failure to thrive, Failure to thrive in infancy, Fatigue, Feeding difficulties, Feeding difficulties in infancy, Fine hair, Frontal bossing, Full cheeks, Gastrointestinal hemorrhage, Generalized hyperpigmentation, Genu recurvatum, Glioblastoma, Global developmental delay, Growth delay, Hearing impairment, Hemangioma, Hemimegalencephaly, Hepatomegaly, Heterogeneous, High forehead, High palate, Horseshoe kidney, Hyperextensible skin, Hyperreflexia, Hypertelorism, Hypertonia, Hypogonadotrophic hypogonadism, Hypophosphatemic rickets, Hypopigmentation of the skin, Hypoplasia of the zygomatic bone, Ichthyosis, Increased intracranial pressure, Intellectual disability, Iris coloboma, Irregular hyperpigmentation, Irritability, Joint hyperflexibility, Juvenile myelomonocytic leukemia, Kyphoscoliosis, Laryngeal hypoplasia, Lipodystrophy, Long face, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Malabsorption, Melanocytic nevus, Micrognathia, Microphthalmia, Midface retrusion, Migraine, Mitral valve prolapse, Multiple cafe-au-lait spots, Multiple lentigines, Multiple lipomas, Muscle stiffness, Muscle weakness, Muscular hypotonia, Mutism, Myopia, Nausea and vomiting, Neoplasm of the pancreas, Neoplasm of the rectum, Neoplasm of the skeletal system, Nevus flammeus, Nevus sebaceous, Nystagmus, Osteolysis, Osteopenia, Overgrowth, Palmoplantar keratoderma, Pectus carinatum, Pectus excavatum, Peripheral axonal neuropathy, Plagiocephaly, Polyhydramnios, Porencephalic cyst, Posteriorly rotated ears, Premature birth, Prominent occiput, Proptosis, Ptosis, Pulmonary arterial hypertension, Pulmonary artery stenosis, Pulmonic stenosis, Recurrent fractures, Reduced tendon reflexes, Retinopathy, Rigidity, Sagittal craniosynostosis, Scoliosis, Seizures, Short neck, Short nose, Short palm, Short palpebral fissure, Short stature, Slow-growing hair, Somatic mosaicism, Somatic mutation, Sparse hair, Sparse or absent eyelashes, Spasticity, Sporadic, Stomach cancer, Strabismus, Subcortical cerebral atrophy, Subcutaneous nodule, Telecanthus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Transitional cell carcinoma of the bladder, Triangular face, Tricuspid valve prolapse, Underdeveloped supraorbital ridges, Ventricular septal defect, Ventriculomegaly, Vertebral segmentation defect, Visceral angiomatosis, Webbed neck, Weight loss, Wide intermamillary distance, Xanthomatosis
IN-CTX-CGE2	GAN	0.781137692	0.000788568	Cytoskeletal associated protein	BrainSpLMD|8139	SFARI||Autism, No category;OMIM|605379;HPO|8139|Abnormal hand morphology, Abnormal pyramidal signs, Abnormality of the Achilles tendon, Abnormality of the cerebellum, Abnormality of the hand, Areflexia, Areflexia of lower limbs, Autosomal recessive inheritance, CNS hypomyelination, Curly hair, Decreased number of peripheral myelinated nerve fibers, Difficulty walking, Diffuse axonal swelling, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Facial palsy, Generalized hypotonia, Hyperreflexia, Hyporeflexia of lower limbs, Intellectual disability, Joint hypermobility, Juvenile onset, Morphological abnormality of the pyramidal tract, Motor axonal neuropathy, Nystagmus, Pes cavus, Pes planus, Phenotypic variability, Pili canaliculi, Proximal muscle weakness, Scoliosis, Sensory axonal neuropathy, Slow progression, Spastic paraplegia, Spasticity, Steppage gait, Talipes equinovarus, Unsteady gait, Woolly hair
IN-CTX-CGE2	ZNF557	0.591470414	0.000836171	Unclassified	BrainSpLMD|79230	
IN-CTX-CGE2	ATAD5	0.449527106	0.000837235	DNA repair protein	BrainSpLMD|79915;Eurexp|euxassay_013782|cortex, liver, metanephros, ventricular layer	OMIM|609534
IN-CTX-CGE2	INTU	0.454031787	0.000849281	Unclassified	BrainSpLMD|27152	OMIM|610621
IN-CTX-CGE2	HERPUD2	0.42286793	0.000851007	Unclassified	BrainSpLMD|64224	
IN-CTX-CGE2	TRIO	0.58264239	0.000900875	Guanine nucleotide exchange factor	BrainSpLMD|7204;Eurexp|euxassay_013122|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|601893;HPO|7204|2-3 toe syndactyly, Aggressive behavior, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Brachydactyly, Clinodactyly, Delayed speech and language development, Dental crowding, Downslanted palpebral fissures, High forehead, High palate, Hypodontia, Macrotia, Microcephaly, Micrognathia, Motor delay, Obsessive-compulsive behavior, Phenotypic variability, Poor speech, Short nose, Synophrys, Tapered finger, Thick eyebrow, Thick vermilion border, Upslanted palpebral fissure
IN-CTX-CGE2	RBM25	0.280072327	0.000911366	RNA binding protein	BrainSpLMD|58517	OMIM|612427
IN-CTX-CGE2	AKAP9	0.573894275	0.000938687	Adapter molecule	BrainSpLMD|10142;Eurexp|euxassay_007743|embryo	SFARI||Autism, 3 - Suggestive evidence;OMIM|604001;COSMIC||papillary thyroid;HPO|10142|Autosomal dominant inheritance, Prolonged QT interval, Syncope
IN-CTX-CGE2	SOGA1	0.978970498	0.000945726	Unclassified	BrainSpLMD|140710	
IN-CTX-CGE2	DLG2	0.677640796	0.000963598	Cell junction protein	BrainSpLMD|1740;Eurexp|euxassay_011686|cervical, cervico-thoracic, dorsal root ganglion, mandible, mantle layer, marginal layer, maxilla, thoracic, trigeminal V, ventral grey horn	OMIM|603583
IN-CTX-CGE2	CCNC	0.384916777	0.000995866	Cell cycle control protein	BrainSpLMD|892	OMIM|123838;COSMIC||T-ALL
IN-CTX-CGE2	RBFOX2	0.535432942	0.001009607	RNA binding protein	BrainSpLMD|23543	OMIM|612149
IN-CTX-CGE2	RNF180	1.157919335	0.001010291	Unclassified	Eurexp|euxassay_010508|dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, lens, medulla, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|616015
IN-CTX-CGE2	CTC.444N24.11	0.348969224	0.001046469			
IN-CTX-CGE2	PAPD4	0.518402971	0.001049512	Unclassified	BrainSpLMD|167153;Eurexp|euxassay_006512|embryo	OMIM|614121
IN-CTX-CGE2	SNRNP27	0.410994625	0.001051164	Unclassified	BrainSpLMD|11017;Eurexp|euxassay_005931|embryo	
IN-CTX-CGE2	GLOD4	0.306582409	0.001056105	Unclassified	BrainSpLMD|51031	
IN-CTX-CGE2	SCG3	0.76857345	0.00107627	Secreted polypeptide	BrainSpLMD|29106;Eurexp|euxassay_015685|adrenal gland, autonomic, basal columns, bladder, brain, central nervous system, cerebellum, cerebral cortex, cervical, cervico-thoracic, cranial, diencephalon, dorsal root ganglion, facial VII, forebrain, ganglion, glossopharyngeal IX, gut, heart, hindbrain, intraventricular portion, lateral wall, left lung, lung, mantle layer, marginal layer, maxillary division, medulla, metanephros, midbrain, nerve plexus, neural retina, renal/urinary system, retina, spinal, spinal cord, stomach, sympathetic, telencephalon, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20018	OMIM|611796
IN-CTX-CGE2	FRY	0.754974726	0.001091564	Unclassified	BrainSpLMD|10129;Eurexp|euxassay_016041|axial skeleton, cervical, cervico-thoracic, clavicle, cricoid, dorsal root ganglion, exoccipital bone, facial VII, fibula, glossopharyngeal IX, mantle layer, metatarsus, nasal septum, neural retina, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, rest of mesenchyme, rib, sternum, temporal bone, thoracic, thyroid, tibia, trigeminal V, turbinate, vagus X, vestibulocochlear VIII, vibrissa	OMIM|614818
IN-CTX-CGE2	LSM5	0.37074909	0.001092385	RNA binding protein	BrainSpLMD|23658;Eurexp|euxassay_001693|cortex, oesophagus, thymus primordium, ventricular layer	OMIM|607285
IN-CTX-CGE2	FNIP1	0.305493364	0.001161334	Unclassified		OMIM|610594
IN-CTX-CGE2	FAM204A	0.385758874	0.001176412	Unclassified	BrainSpLMD|63877;Eurexp|euxassay_007076|embryo	
IN-CTX-CGE2	ZNF460	0.473174744	0.001176997	Transcription factor	BrainSpLMD|10794	OMIM|604755
IN-CTX-CGE2	SSRP1	0.315232147	0.001196543	Transcription factor	BrainSpLMD|6749;BrainSpMouseDev|20595	OMIM|604328
IN-CTX-CGE2	GNAQ	1.028316508	0.001212522	G protein	BrainSpLMD|2776	OMIM|600998;COSMIC||uveal melanoma, primary central nervous system melanocytic neoplasms;HPO|2776|Arachnoid hemangiomatosis, Arteriovenous malformation, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Buphthalmos, Capillary hemangiomas, Cerebral cortical atrophy, Choroidal hemangioma, Choroidal melanoma, Ciliary body melanoma, Facial hemangioma, Glaucoma, Hypermelanotic macule, Hyperreflexia, Intellectual disability, Iris melanoma, Macrocephaly, Nevus flammeus, Optic atrophy, Papule, Retinal detachment, Seizures, Sporadic, Strabismus, Stroke, Visual loss
IN-CTX-CGE2	RGPD8	0.354596621	0.001230167			OMIM|602752
IN-CTX-CGE2	NLN	1.266347129	0.001248644	Metallo protease	BrainSpLMD|57486	OMIM|611530
IN-CTX-CGE2	VPS35	0.362406659	0.001345035	Transport/cargo protein	BrainSpLMD|55737	OMIM|601501
IN-CTX-CGE2	TROVE2	0.320406079	0.001351826	RNA binding protein	BrainSpLMD|6738	OMIM|600063
IN-CTX-CGE2	CCSER1	0.625883014	0.001372012	Unclassified	BrainSpLMD|401145;Eurexp|euxassay_016073|cervical, cervico-thoracic, facial VII, glossopharyngeal IX, mantle layer, marginal layer, metanephros, thoracic, trachea	
IN-CTX-CGE2	SPPL2A	1.242037136	0.001374227		BrainSpLMD|84888;Eurexp|euxassay_010397|clavicle, mandible, maxilla, orbito-sphenoid, rib, thymus primordium	OMIM|608238
IN-CTX-CGE2	ANKRD36B	0.594754045	0.001419045	Unclassified	BrainSpLMD|57730	
IN-CTX-CGE2	NKAIN2	0.695965154	0.001452508	Integral membrane protein	BrainSpLMD|154215	OMIM|609758
IN-CTX-CGE2	TMOD2	1.247143773	0.001473763	Cytoskeletal associated protein	BrainSpLMD|29767	OMIM|602928
IN-CTX-CGE2	CGGBP1	0.811181097	0.001550963	DNA binding protein	BrainSpLMD|8545	OMIM|603363
IN-CTX-CGE2	KIAA1841	0.386083635	0.001566084	Unclassified	BrainSpLMD|84542;Eurexp|euxassay_014689|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
IN-CTX-CGE2	MIDN	0.375262948	0.001627154	Unclassified		OMIM|606700
IN-CTX-CGE2	MCFD2	0.531654184	0.001707837	Unclassified	BrainSpLMD|90411;Eurexp|euxassay_000692|Meckel's cartilage, chondrocranium, incisor, molar	OMIM|607788;HPO|90411|Autosomal recessive inheritance, Epistaxis, Menorrhagia, Persistent bleeding after trauma, Reduced factor V activity, Reduced factor VIII activity
IN-CTX-CGE2	TERF1	0.299458877	0.001746951	DNA binding protein	BrainSpLMD|7013	OMIM|600951
IN-CTX-CGE2	USP9X	0.453364563	0.001792029	Ubiquitin proteasome system protein	BrainSpLMD|8239	OMIM|300072;HPO|8239|Abnormality of the dentition, Astigmatism, Atrial septal defect, Brachycephaly, Broad thumb, Bulbous nose, Cataract, Cleft palate, Delayed speech and language development, Depressed nasal bridge, Facial asymmetry, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hip dislocation, Hydronephrosis, Hypermetropia, Hypotelorism, Intellectual disability, Joint laxity, Long philtrum, Low-set ears, Myopia, Narrow forehead, Patent ductus arteriosus, Pes cavus, Phenotypic variability, Posteriorly rotated ears, Prominent forehead, Prominent nose, Renal dysplasia, Respiratory distress, Short foot, Short palpebral fissure, Short stature, Small hand, Smooth philtrum, Strabismus, Tapered finger, Wide nasal bridge, X-linked dominant inheritance, X-linked recessive inheritance
IN-CTX-CGE2	CEP95	0.261387295	0.001920342	Unclassified	BrainSpLMD|90799	
IN-CTX-CGE2	LRCH2	0.849175917	0.00192131	Unclassified	BrainSpLMD|57631;Eurexp|euxassay_013951|anterior abdominal wall, bladder, brain, cortex, extrinsic, metanephros, spinal cord	
IN-CTX-CGE2	BTG1	0.613152483	0.001958545	Cell cycle control protein	BrainSpLMD|694	OMIM|109580;COSMIC||B-CLL
IN-CTX-CGE2	PPIG	0.426335462	0.002000884	Enzyme: Isomerase	BrainSpLMD|9360	OMIM|606093
IN-CTX-CGE2	EMC4	0.270068219	0.002008871	Unclassified	BrainSpLMD|51234	OMIM|616245
IN-CTX-CGE2	CRIP2	0.337713309	0.002024201	Adapter molecule	BrainSpLMD|1397;Eurexp|euxassay_002192|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X, ventricle	OMIM|601183
IN-CTX-CGE2	BAG5	0.606879617	0.002089156	Unclassified	BrainSpLMD|9529	OMIM|603885
IN-CTX-CGE2	SLC5A3	0.338990065	0.002101596	Transport/cargo protein	BrainSpLMD|6526;Eurexp|euxassay_019742|axial muscle, cervical region, choroid plexus, extrinsic ocular muscle, nasal septum, pelvic girdle, rectum, turbinate bones, ventricular layer	OMIM|600444
IN-CTX-CGE2	LPIN1	0.674982902	0.002117948	Unclassified	BrainSpLMD|23175;Eurexp|euxassay_013747|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, incisor, liver, mantle layer, marginal layer, molar, olfactory, spinal cord, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|605518;HPO|23175|Acute kidney injury, Acute rhabdomyolysis, Areflexia, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Fever, Hyperkalemia, Hyporeflexia, Muscle weakness, Myalgia, Myoglobinuria
IN-CTX-CGE2	15-Sep	0.3965347	0.002205239			
IN-CTX-CGE2	SF3B1	0.256314719	0.002399841	RNA binding protein	BrainSpLMD|23451	OMIM|605590;COSMIC||myelodysplastic syndrome;HPO|23451|Choroidal melanoma, Ciliary body melanoma, Iris melanoma, Myelodysplasia, Retinal detachment, Somatic mutation, Visual loss
IN-CTX-CGE2	WTAP	0.323602121	0.002464386	Unclassified	BrainSpLMD|9589	OMIM|605442
IN-CTX-CGE2	QKI	0.276841087	0.00248625	RNA binding protein	BrainSpLMD|9444;Eurexp|euxassay_012259|diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, lens, lung, mandible, mantle layer, marginal layer, maxilla, meninges, midgut, neural retina, orbito-sphenoid, petrous part, skeletal muscle, stomach, submandibular gland primordium, turbinate, vault of skull, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|609590;COSMIC||angiocentric glioma, colorectal cancer
IN-CTX-CGE2	KIAA0232	0.400847114	0.002575935	Unclassified	BrainSpLMD|9778	
IN-CTX-CGE2	PFKM	0.35621848	0.002685818	Enzyme: Phosphotransferase	BrainSpLMD|5213;Eurexp|euxassay_018474|dorsal root ganglion, mantle layer, trigeminal V, vagus X, ventral grey horn, ventricular layer	OMIM|610681;HPO|5213|Anemia, Autosomal recessive inheritance, Cholelithiasis, Exercise intolerance, Exercise-induced muscle cramps, Exercise-induced myoglobinuria, Gout, Hemolytic anemia, Hyperuricemia, Increased muscle glycogen content, Increased total bilirubin, Jaundice, Muscle weakness, Myotonia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis, Skeletal muscle atrophy, Variable expressivity
IN-CTX-CGE2	SOX1	0.63494672	0.002709484	Transcription factor	BrainSpLMD|6656;Eurexp|euxassay_019565|ventral grey horn, ventricular layer	OMIM|602148
IN-CTX-CGE2	KALRN	0.762647876	0.002723775	Guanine nucleotide exchange factor	BrainSpLMD|8997	OMIM|604605
IN-CTX-CGE2	ZZZ3	0.495367314	0.002758013	DNA binding protein	BrainSpLMD|26009	
IN-CTX-CGE2	MDH1	0.308844186	0.002798459	Enzyme: Dehydrogenase	BrainSpLMD|4190	OMIM|154200
IN-CTX-CGE2	PAK2	0.489622617	0.002942177	Serine/threonine kinase	BrainSpLMD|5062	OMIM|605022
IN-CTX-CGE2	PTPRD	0.397037073	0.002996913	Receptor tyrosine phosphatase	BrainSpLMD|5789	OMIM|601598
IN-CTX-CGE2	ITGB1BP1	0.357837709	0.003053214	Adapter molecule	BrainSpLMD|9270;Eurexp|euxassay_006800|left lung, right lung	OMIM|607153
IN-CTX-CGE2	ARHGAP32	0.686461713	0.003122993		BrainSpLMD|9743	SFARI||Autism, 4 - Minimal evidence;OMIM|608541
IN-CTX-CGE2	SAFB2	0.305468178	0.00319284	Unclassified	BrainSpLMD|9667	OMIM|608066
IN-CTX-CGE2	TOMM5	0.440001572	0.003338101	Unclassified		OMIM|616169
IN-CTX-CGE2	ITCH	0.265632048	0.003405383	Ubiquitin proteasome system protein	BrainSpLMD|83737;Eurexp|euxassay_009772|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|606409;HPO|83737|Abnormal facial shape, Autoimmunity, Autosomal recessive inheritance, Camptodactyly, Clinodactyly, Dolichocephaly, Frontal bossing, Global developmental delay, Hepatomegaly, Low-set ears, Posteriorly rotated ears, Prominent occiput, Proptosis, Relative macrocephaly, Short chin, Splenomegaly
IN-CTX-CGE2	ZNF302	0.305432405	0.003423802	DNA binding protein	BrainSpLMD|55900	
IN-CTX-CGE2	ANKRD36	0.464214353	0.003435132	Unclassified		
IN-CTX-CGE2	UBXN7	1.200116576	0.003447518	Unclassified	BrainSpLMD|26043	OMIM|616379
IN-CTX-CGE2	MYEOV2	0.297708536	0.003448211			
IN-CTX-CGE2	PDP1	0.625564708	0.003455219	Serine/threonine phosphatase	BrainSpLMD|54704	OMIM|605993;HPO|54704|Autosomal recessive inheritance, Decreased activity of the pyruvate dehydrogenase complex, Dysphagia, Gait ataxia, Generalized hypotonia, Global developmental delay, Infantile onset, Intellectual disability, Lactic acidosis, Nystagmus, Seizures
IN-CTX-CGE2	NAPG	0.522944498	0.003484503	Membrane transport protein	BrainSpLMD|8774	OMIM|603216
IN-CTX-CGE2	USP16	0.265821331	0.00353504	Ubiquitin proteasome system protein	BrainSpLMD|10600	OMIM|604735
IN-CTX-CGE2	DCLK2	0.398497418	0.003625902	Serine/threonine kinase	BrainSpLMD|166614;Eurexp|euxassay_009796|associated mesenchyme, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nasal cavity, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613166
IN-CTX-CGE2	AKAP6	0.880542679	0.0036678	Anchor protein	BrainSpLMD|9472;Eurexp|euxassay_011440|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, meninges, neural retina, olfactory, skeletal muscle, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vomeronasal organ	OMIM|604691
IN-CTX-CGE2	RAP2A	0.331310036	0.003721025	GTPase	BrainSpLMD|5911	OMIM|179540
IN-CTX-CGE2	VBP1	0.304225537	0.003798507	Chaperone	BrainSpLMD|7411	OMIM|300133
IN-CTX-CGE2	TBC1D23	0.35481838	0.003803751	Unclassified	BrainSpLMD|55773	OMIM|617687
IN-CTX-CGE2	KPNA3	0.277570259	0.003829699	Transport/cargo protein	BrainSpLMD|3839	OMIM|601892
IN-CTX-CGE2	EIF2AK2	0.642386759	0.003920401	Serine/threonine kinase	BrainSpLMD|5610	OMIM|176871
IN-CTX-CGE2	GNPTAB	0.841784561	0.003951921	Calcium binding protein	BrainSpLMD|79158	OMIM|607840;HPO|79158|Abnormality of nervous system morphology, Abnormality of the rib cage, Abnormality of the thorax, Anteverted nares, Aortic regurgitation, Atlantoaxial dislocation, Autosomal recessive inheritance, Beaking of vertebral bodies T12-L3, Broad ribs, Bullet-shaped phalanges of the hand, Cardiomegaly, Carpal bone hypoplasia, Cavernous hemangioma, Coarse facial features, Congestive heart failure, Constrictive median neuropathy, Corneal erosion, Craniosynostosis, Death in childhood, Deficiency of N-acetylglucosamine-1-phosphotransferase, Depressed nasal bridge, Diastasis recti, Dysostosis multiplex, Epicanthus, Failure to thrive, Flared iliac wings, Flat acetabular roof, Generalized hirsutism, Heart murmur, Hepatomegaly, Hernia, High forehead, Hip dislocation, Hoarse voice, Hyperopic astigmatism, Hypertrophic cardiomyopathy, Hypoplasia of the odontoid process, Hypoplastic scapulae, Increased serum beta-hexosaminidase, Increased serum iduronate sulfatase activity, Inguinal hernia, Intellectual disability, Irregular carpal bones, J-shaped sella turcica, Lack of skin elasticity, Large sella turcica, Long philtrum, Lower thoracic interpediculate narrowness, Macroglossia, Mandibular prognathia, Megalocornea, Metaphyseal widening, Mucopolysacchariduria, Myelopathy, Narrow forehead, Neonatal hypotonia, Opacification of the corneal stroma, Osteopenia, Ovoid vertebral bodies, Palpebral edema, Pathologic fracture, Progressive alveolar ridge hypertropy, Protuberant abdomen, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia, Retinal degeneration, Scoliosis, Severe global developmental delay, Severe postnatal growth retardation, Shallow acetabular fossae, Short long bone, Short ribs, Short stature, Soft tissue swelling of interphalangeal joints, Sparse and thin eyebrow, Specific learning disability, Splenomegaly, Split hand, Talipes equinovarus, Thickened calvaria, Thickened skin, Thin skin, Thoracolumbar kyphoscoliosis, Umbilical hernia, Varus deformity of humeral neck, Wide intermamillary distance
IN-CTX-CGE2	NUPL1	0.625901629	0.003952396			
IN-CTX-CGE2	ATP2A2	0.518379237	0.003984709	Membrane transport protein	BrainSpLMD|488	OMIM|108740;HPO|488|Abnormality of the hair, Acrokeratosis, Anal mucosal leukoplakia, Autosomal dominant inheritance, Bipolar affective disorder, Enlargement of parotid gland, Epidermal acanthosis, Hyperkeratosis, Hypermelanotic macule, Intellectual disability, mild, Palmar pits, Palmoplantar keratoderma, Plantar pits, Pruritus, Ridged nail, Schizophrenia, Seizures, Subungual hyperkeratotic fragments
IN-CTX-CGE2	RAD23A	0.645875772	0.004097462	DNA repair protein	BrainSpLMD|5886	OMIM|600061
IN-CTX-CGE2	RP11.452L6.1	0.860449321	0.004196213			
IN-CTX-CGE2	C4orf27	0.454065971	0.004246237			
IN-CTX-CGE2	GPIHBP1	0.680397304	0.004307734	Unclassified	BrainSpLMD|338328	OMIM|612757;HPO|338328|Acute pancreatitis, Autosomal recessive inheritance, Episodic abdominal pain, Eruptive xanthomas, Failure to thrive, Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Hyperlipoproteinemia, Hypertriglyceridemia, Increased circulating chylomicron levels, Lipemia retinalis, Recurrent pancreatitis, Splenomegaly
IN-CTX-CGE2	EP300	0.32393559	0.004388599	Transcription regulatory protein	BrainSpLMD|2033;BrainSpMouseDev|108486	SFARI||Autism, 4 - Minimal evidence;OMIM|602700;COSMIC||colorectal, breast, pancreatic, AML, ALL, DLBCL;HPO|2033|Abnormal number of teeth, Abnormality of refraction, Abnormality of the cervical spine, Abnormality of the cornea, Abnormality of the kidney, Abnormality of the pinna, Aganglionic megacolon, Agenesis of corpus callosum, Agoraphobia, Arrhythmia, Atrial septal defect, Autism, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Bifid uterus, Bimanual synkinesia, Broad hallux, Broad thumb, Cafe-au-lait spot, Capillary hemangiomas, Carious teeth, Cataract, Chorioretinal dystrophy, Clinodactyly of the 5th finger, Coloboma, Congenital onset, Constipation, Convex nasal ridge, Cryptorchidism, Deeply set eye, Delayed cranial suture closure, Delayed gross motor development, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Dental malocclusion, Deviated nasal septum, Dislocated radial head, Downslanted palpebral fissures, Duane anomaly, Duplication of phalanx of hallux, EEG abnormality, Epicanthus, Facial grimacing, Failure to thrive, Feeding difficulties in infancy, Flared iliac wings, Flexion contracture, Frontal bossing, Frontal upsweep of hair, Generalized hypotonia, Glaucoma, Global developmental delay, Hearing impairment, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, High axial triradius, High palate, Highly arched eyebrow, Hirsutism, Hyperactivity, Hyperreflexia, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Hypoplastic iliac wing, Hypospadias, Impulsivity, Intellectual disability, Intellectual disability, mild, Joint hypermobility, Joint laxity, Keloids, Large foramen magnum, Laryngomalacia, Long eyelashes, Low anterior hairline, Low hanging columella, Low posterior hairline, Low-set ears, Microcephaly, Micrognathia, Muscular hypotonia, Narrow mouth, Narrow palate, Nasolacrimal duct obstruction, Neoplasm of the stomach, Obstructive sleep apnea, Overbite, Papillary cystadenoma of the epididymis, Parietal foramina, Patellar dislocation, Patent ductus arteriosus, Pectus excavatum, Pes planus, Phonophobia, Plantar crease between first and second toes, Polydactyly, Polyhydramnios, Poor coordination, Posterior helix pit, Postnatal growth retardation, Premature thelarche, Prominent fingertip pads, Prominent nose, Proptosis, Ptosis, Radial deviation of thumb terminal phalanx, Recurrent upper respiratory tract infections, Renal cell carcinoma, Respiratory distress, Retrognathia, Scoliosis, Seizures, Self-mutilation, Shawl scrotum, Short attention span, Short stature, Single transverse palmar crease, Spina bifida occulta, Sporadic, Stereotypy, Strabismus, Syndactyly, Talon cusp, Tethered cord, Thick eyebrow, Transitional cell carcinoma of the bladder, Truncal obesity, Unsteady gait, Uterine leiomyosarcoma, Variable expressivity, Vascular ring, Ventricular septal defect, Wide anterior fontanel, Wide nasal bridge
IN-CTX-CGE2	YTHDC2	0.276044027	0.004419646	Unclassified	BrainSpLMD|64848	SFARI||Autism, No category;OMIM|616530
IN-CTX-CGE2	LRRN3	1.1576726	0.004494631	Integral membrane protein	BrainSpLMD|54674;Eurexp|euxassay_015911|cervical, cervico-thoracic, ear, facial VII, glossopharyngeal IX, lip, mantle layer, marginal layer, medulla, neural retina, olfactory, pituitary, stomach, thoracic, trachea, trigeminal V, ventral grey horn, vestibular component, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16751	
IN-CTX-CGE2	PTCD3	0.532261679	0.004521267	Unclassified	BrainSpLMD|55037	OMIM|614918
IN-CTX-CGE2	SMARCAD1	0.808346258	0.004548753	DNA helicase	BrainSpLMD|56916	OMIM|612761;HPO|56916|Abnormal blistering of the skin, Abnormal dermatoglyphics, Adermatoglyphia, Autosomal dominant inheritance, Camptodactyly of finger, Clubbing, Ectodermal dysplasia, Epidermal acanthosis, Flexion contracture, Hypohidrosis, Milia, Palmar hyperkeratosis, Single transverse palmar crease, Skin rash, Tapered finger, Thickened skin, Thin skin
IN-CTX-CGE2	SHANK2	0.845554814	0.004781149	Structural protein	BrainSpLMD|22941	SFARI||Autism, 2 - Strong candidate;OMIM|603290
IN-CTX-CGE2	CD24	0.286577485	0.004881508		BrainSpLMD|100133941;BrainSpMouseDev|12269	OMIM|600074
IN-CTX-CGE2	PSMA3	0.339682678	0.004894564	Ubiquitin proteasome system protein	BrainSpLMD|5684;Eurexp|euxassay_003148|axial muscle, basal plate, chondrocranium, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, intermediate grey horn, left lung, mantle layer, marginal layer, molar, orbito-sphenoid, pancreas, right lung, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|176843
IN-CTX-CGE2	CPEB4	0.323251234	0.004915405	RNA binding protein	BrainSpLMD|80315	OMIM|610607
IN-CTX-CGE2	CCDC50	0.375365654	0.00501178	Unclassified	BrainSpLMD|152137	OMIM|611051;HPO|152137|Autosomal dominant inheritance, Sensorineural hearing impairment
IN-CTX-CGE2	NCAM1	0.508453542	0.005062435	Adhesion molecule	BrainSpLMD|4684;Eurexp|euxassay_014138|bladder, brain, cervical, cervico-thoracic, cortex, dermal component, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, pericardial cavity, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, ureter, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17734	OMIM|116930
IN-CTX-CGE2	TNPO3	0.479580275	0.0051008	Nuclear receptor	BrainSpLMD|23534	OMIM|610032;HPO|23534|Abnormality of lipid metabolism, Abnormality of the intrahepatic bile duct, Abnormality of the thyroid gland, Antinuclear antibody positivity, Biliary cirrhosis, Cirrhosis, Conjugated hyperbilirubinemia, Dermatographic urticaria, Elevated alkaline phosphatase, Hepatic failure, Hepatic fibrosis, Hepatocellular carcinoma, Hyperpigmentation of the skin, Increased IgM level, Jaundice, Onychomycosis, Orthostatic hypotension, Portal hypertension, Pruritus
IN-CTX-CGE2	GTF2H2	0.250942999	0.005141014	Transcription factor	Eurexp|euxassay_019537|incisor, liver, lung, metanephros, midgut, pancreas, submandibular gland primordium, thymus primordium, vibrissa	OMIM|601748
IN-CTX-CGE2	VDAC1	0.254852157	0.005529309	Voltage gated channel	BrainSpLMD|7416	OMIM|604492
IN-CTX-CGE2	GOT2	0.350388139	0.005782605	Enzyme: Aminotransferase	BrainSpLMD|2806	OMIM|138150
IN-CTX-CGE2	FTH1P7	0.269016857	0.005783053			
IN-CTX-CGE2	C7orf55.LUC7L2	0.43935937	0.00581308			
IN-CTX-CGE2	MON2	0.272851466	0.00588048	Unclassified	BrainSpLMD|23041	OMIM|616822
IN-CTX-CGE2	FTO	0.775187102	0.006028939	Unclassified	BrainSpLMD|79068	OMIM|610966;HPO|79068|Anteverted nares, Autosomal recessive inheritance, Bifid uvula, Brachydactyly, Cleft palate, Coarse facial features, Cryptorchidism, Cutis marmorata, Dandy-Walker malformation, Failure to thrive, Global developmental delay, Hydrocephalus, Hypertonia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Lissencephaly, Macroglossia, Microcephaly, Obesity, Patent ductus arteriosus, Protruding tongue, Retrognathia, Seizures, Sensorineural hearing impairment, Short neck, Skull asymmetry, Small nail, Umbilical hernia, Ventricular septal defect
IN-CTX-CGE2	PRRC2C	0.483793686	0.006086106	Unclassified	BrainSpLMD|23215	OMIM|617373
IN-CTX-CGE2	DRG1	0.348158458	0.006310608	Unclassified	BrainSpLMD|4733;Eurexp|euxassay_019652|adrenal gland, dorsal root ganglion, liver, metanephros, testis, thymus primordium, ventricular layer, vibrissa;BrainSpMouseDev|13273	OMIM|603952
IN-CTX-CGE2	LRRC16A	0.407731117	0.006324148			
IN-CTX-CGE2	NOP58	0.278742009	0.006395557	RNA binding protein	BrainSpLMD|51602	OMIM|616742
IN-CTX-CGE2	LPHN3	0.63686123	0.006422051			
IN-CTX-CGE2	CDKAL1	0.446573311	0.006590481	Unclassified	BrainSpLMD|54901;Eurexp|euxassay_005580|olfactory	OMIM|611259
IN-CTX-CGE2	PPP2CB	0.662212571	0.006690657	Serine/threonine phosphatase	BrainSpLMD|5516	OMIM|176916
IN-CTX-CGE2	IGF1R	0.62113325	0.006732168	Receptor tyrosine kinase	BrainSpLMD|3480;BrainSpMouseDev|15774	OMIM|147370;HPO|3480|Abnormal facial shape, Abnormality of the rib cage, Agitation, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Broad nasal tip, Clinodactyly, Congenital onset, Decreased body weight, Delayed skeletal maturation, Delayed speech and language development, Everted lower lip vermilion, Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}, Intellectual disability, Intrauterine growth retardation, Long philtrum, Microcephaly, Motor delay, Pectus excavatum, Radial deviation of finger, Short palm, Short stature, Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Wide intermamillary distance, Wide nasal bridge
IN-CTX-CGE2	KANSL1	0.28312316	0.006783968	Unclassified	BrainSpLMD|284058	OMIM|612452;HPO|284058|Abnormality of hair pigmentation, Abnormality of hair texture, Abnormality of the dentition, Anteverted ears, Atrial septal defect, Autosomal dominant inheritance, Bicuspid aortic valve, Blepharophimosis, Broad forehead, Bulbous nose, Cleft upper lip, Conspicuously happy disposition, Contiguous gene syndrome, Delayed speech and language development, Dry skin, Eczema, Epicanthus, Everted lower lip vermilion, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, High forehead, High palate, Hip dislocation, Hip dysplasia, Hydronephrosis, Hypermetropia, Hypotrophy of the small hand muscles, Intellectual disability, Intrauterine growth retardation, Joint hypermobility, Kyphosis, Macrotia, Narrow palate, Narrow palm, Nasal speech, Open mouth, Overfolded helix, Pear-shaped nose, Poor speech, Positional foot deformity, Prominent fingertip pads, Prominent nasal bridge, Ptosis, Pulmonic stenosis, Sacral dimple, Scoliosis, Slender finger, Sporadic, Strabismus, Upslanted palpebral fissure, Variable expressivity, Ventricular septal defect, Vesicoureteral reflux, Wide intermamillary distance, Widely spaced teeth
IN-CTX-CGE2	BRD3	0.287852457	0.006880576	Transcription regulatory protein	BrainSpLMD|8019	OMIM|601541;COSMIC||lethal midline carcinoma of young people
IN-CTX-CGE2	SLC35B1	0.264718143	0.006933388	Membrane transport protein	BrainSpLMD|10237;Eurexp|euxassay_005005|clavicle, incisor, mandible, maxilla, orbito-sphenoid, rib, submandibular gland primordium	SFARI||Autism, 3 - Suggestive evidence;OMIM|610790
IN-CTX-CGE2	MAPK6	0.63747728	0.007003105	Serine/threonine kinase	BrainSpLMD|5597	OMIM|602904
IN-CTX-CGE2	NAP1L3	0.858470271	0.007186841	Unclassified	BrainSpLMD|4675;Eurexp|euxassay_002914|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|300117
IN-CTX-CGE2	CPSF7	0.613305776	0.007225832	Unclassified	BrainSpLMD|79869;Eurexp|euxassay_007331|embryo	
IN-CTX-CGE2	FOXK2	0.2922916	0.007274805	Transcription factor;DNA binding protein	BrainSpLMD|3607;BrainSpMouseDev|44679	OMIM|147685
IN-CTX-CGE2	SUCLG1	0.252852843	0.007414919	Enzyme: Ligase	BrainSpLMD|8802	OMIM|611224;HPO|8802|Abnormality of the skin, Ataxia, Autosomal recessive inheritance, Cerebral atrophy, Encephalopathy, Failure to thrive, Feeding difficulties, Global developmental delay, Growth delay, Hyperhidrosis, Hypoglycemia, Hypophosphatemia, Infantile onset, Intellectual disability, severe, Intermittent hyperpnea at rest, Lactic acidosis, Methylmalonic aciduria, Muscular hypotonia, Phenotypic variability, Poor motor coordination, Renal aminoaciduria, Respiratory failure, Seizures, Skeletal muscle atrophy, Unsteady gait
IN-CTX-CGE2	COPA	0.316696447	0.007457122	Transport/cargo protein	BrainSpLMD|1314;Eurexp|euxassay_003303|clavicle, mandible, maxilla, rib	OMIM|601924
IN-CTX-CGE2	ZRANB2	0.367846148	0.007543425	RNA binding protein	BrainSpLMD|9406	OMIM|604347
IN-CTX-CGE2	ZBED5	0.464562667	0.00766609	Unclassified	BrainSpLMD|58486	OMIM|615251
IN-CTX-CGE2	FAM177A1	0.774600708	0.007740274	Unclassified	BrainSpLMD|283635	
IN-CTX-CGE2	FAM214A	0.485954142	0.007759545	Unclassified	Eurexp|euxassay_003223|Meckel's cartilage, adrenal gland, incisor, mesenchyme, molar, pituitary, rib, testis	
IN-CTX-CGE2	KANSL2	0.310817292	0.007803199	Unclassified	BrainSpLMD|54934	OMIM|615488
IN-CTX-CGE2	PAK3	0.546556926	0.007953202	Serine/threonine kinase	BrainSpLMD|5063	OMIM|300142;HPO|5063|Aggressive behavior, Agitation, Anteverted nares, Anxiety, Delayed gross motor development, Delayed speech and language development, Drooling, Flat face, High palate, Hyperactivity, Intellectual disability, Macrotia, Microcephaly, Open mouth, Psychosis, Seizures, Short attention span, Short nose, Thin upper lip vermilion, Variable expressivity, X-linked recessive inheritance
IN-CTX-CGE2	REV1	1.460075591	0.008413337	Enzyme: Transferase	BrainSpLMD|51455	OMIM|606134
IN-CTX-CGE2	GTF3C6	0.377740252	0.008473133	Unclassified	BrainSpLMD|112495	OMIM|611784
IN-CTX-CGE2	MRPS16	0.379596308	0.008546579	Ribosomal subunit	BrainSpLMD|51021	OMIM|609204;HPO|51021|Abnormal facial shape, Agenesis of corpus callosum, Autosomal recessive inheritance, Brachydactyly, Congenital onset, Edema, Elevated hepatic transaminases, Feeding difficulties in infancy, Heterogeneous, Hypokinesia, Increased serum lactate, Lactic acidosis, Lethargy, Low-set ears, Neonatal hypotonia, Patent ductus arteriosus, Redundant neck skin, Small for gestational age, Ventriculomegaly
IN-CTX-CGE2	LARP4	0.614083517	0.008550088	RNA binding protein	BrainSpLMD|113251	
IN-CTX-CGE2	GOLGA8B	0.368073702	0.008663406	Unclassified	BrainSpLMD|440270	OMIM|609619
IN-CTX-CGE2	STT3B	0.605116363	0.008839769	Integral membrane protein	BrainSpLMD|201595	OMIM|608605;HPO|201595|Abnormal glycosylation, Autosomal recessive inheritance, Cerebellar atrophy, Congenital onset, Cryptorchidism, Death in childhood, Decreased liver function, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Microcephaly, Micropenis, Optic atrophy, Respiratory distress, Scrotal hypoplasia, Seizures, Thrombocytopenia
IN-CTX-CGE2	ERV3.1	0.516068746	0.008887837			
IN-CTX-CGE2	ERC2	1.268335061	0.009141125	Cytoskeletal associated protein	BrainSpLMD|26059;Eurexp|euxassay_003848|adenohypophysis, adrenal gland, bladder, brain, cervical, cervico-thoracic, dermis, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, lung, metanephros, midgut, oesophagus, olfactory, retina, spinal cord, stomach, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|617250
IN-CTX-CGE2	CIR1	0.844309605	0.009252345	Transcription regulatory protein	BrainSpLMD|9541	OMIM|605228
IN-CTX-CGE2	RDX	0.557452417	0.009277449	Cytoskeletal associated protein	BrainSpLMD|5962	OMIM|179410;HPO|5962|Autosomal recessive inheritance, Infantile onset, Profound sensorineural hearing impairment
IN-CTX-CGE2	RP11.175B9.3	0.29107568	0.009385774			
IN-CTX-CGE2	PPP6R3	0.326151549	0.009638232	Unclassified	BrainSpLMD|55291	OMIM|610879
IN-CTX-CGE2	MPHOSPH8	0.39159036	0.009839295	Cell cycle control protein	BrainSpLMD|54737	OMIM|611626
IN-CTX-MGE1	SST	2.666877915	0	Peptide hormone	BrainSpLMD|6750;BrainSpMouseDev|20366	OMIM|182450
IN-CTX-MGE1	BEND4	2.590722547	0	Unclassified	BrainSpLMD|389206	
IN-CTX-MGE1	MAF	2.486554776	0	Transcription factor	BrainSpLMD|4094;Eurexp|euxassay_015869|choroid plexus, dorsal grey horn, facial VII, incisor, lens, mandible, mantle layer, maxilla, metanephros, molar, nasal septum, rib, trigeminal V, ventricular layer;BrainSpMouseDev|16902	OMIM|177075;COSMIC||MM;HPO|4094|Autosomal dominant inheritance, Brachycephaly, Broad eyebrow, Broad philtrum, Cataract, Cerulean cataract, Congenital cataract, Cortical pulverulent cataract, Depressed nasal bridge, Flat face, High forehead, Hypertelorism, Intellectual disability, Iris coloboma, Long philtrum, Low-set ears, Malar flattening, Microcornea, Midface retrusion, Myopia, Narrow mouth, Ptosis, Radioulnar synostosis, Seizures, Sensorineural hearing impairment, Short nose, Short stature, Smooth philtrum, Thin upper lip vermilion, Wide nasal bridge
IN-CTX-MGE1	NXPH1	2.316861243	0	Secreted polypeptide	BrainSpLMD|30010;Eurexp|euxassay_007637|dorsal grey horn, mantle layer, ventral grey horn	SFARI||Autism, 4 - Minimal evidence;OMIM|604639
IN-CTX-MGE1	WI2.1896O14.1	2.26753058	0			
IN-CTX-MGE1	FAM135B	2.219037032	0	Unclassified	BrainSpLMD|51059;Eurexp|euxassay_010225|ventral grey horn	SFARI||Autism, No category;COSMIC||SCLC
IN-CTX-MGE1	PXDC1	2.207840667	0	Unclassified	BrainSpLMD|221749	
IN-CTX-MGE1	PDZRN4	2.057517388	0	Unclassified	BrainSpLMD|29951;Eurexp|euxassay_013149|axial skeleton, basioccipital bone, femur, fibula, humerus, mantle layer, phalanx, rib, scapula, tibia	OMIM|609730
IN-CTX-MGE1	ERBB4	2.020625759	0	Receptor tyrosine kinase	BrainSpLMD|2066;Eurexp|euxassay_008088|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|13647	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600543;COSMIC||melanoma, gastric, NSCLC, Amyotrophic lateral sclerosis 19;HPO|2066|Adult onset, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Loss of ability to walk, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Xerostomia
IN-CTX-MGE1	BRINP2	2.000697351	0	Unclassified	BrainSpLMD|57795	
IN-CTX-MGE1	PTPRT	1.992831252	0	Receptor tyrosine phosphatase	BrainSpLMD|11122	SFARI||Autism, No category;OMIM|608712;COSMIC||HNSCC, colorectal cancer, gastric cancer, lung cancer, melanoma
IN-CTX-MGE1	SIAH3	1.973488076	0	Unclassified	BrainSpLMD|283514	OMIM|615609
IN-CTX-MGE1	ACKR3	1.950268097	0	G protein coupled receptor	BrainSpLMD|57007;Eurexp|euxassay_005213|atrium, calyces, capsule, cortex, mantle layer, marginal layer, medulla, meninges, mesenchyme, oesophagus, stomach, ventricle, ventricular layer	OMIM|610376;COSMIC||lipoma
IN-CTX-MGE1	AKAP5	1.850950172	0	Anchor protein	BrainSpLMD|9495	OMIM|604688
IN-CTX-MGE1	LHX6	1.819270572	0	Transcription factor	BrainSpLMD|26468;BrainSpMouseDev|16645	OMIM|608215
IN-CTX-MGE1	CXCR4	1.714223615	0	G protein coupled receptor	BrainSpLMD|7852;Eurexp|euxassay_006007|cervical, cervico-thoracic, corpus striatum, incisor, mantle layer, mitral valve, molar, neural retina, olfactory, thoracic, thymus primordium, valve, ventricular layer, vibrissa;BrainSpMouseDev|12551	OMIM|162643;COSMIC||WM;HPO|7852|Abnormality of female external genitalia, Abnormality of female internal genitalia, Autosomal dominant inheritance, Bone marrow hypercellularity, Bronchiectasis, Decreased antibody level in blood, IgG deficiency, Infantile onset, Myelokathexis, Neutropenia, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Verrucae
IN-CTX-MGE1	CH17.189H20.1	1.674305498	0			
IN-CTX-MGE1	ZNF536	1.642278786	0	DNA binding protein	BrainSpLMD|9745;Eurexp|euxassay_015751|adrenal gland, bladder, brain, cochlea, dorsal root ganglion, forelimb, glossopharyngeal IX, hindgut, hindlimb, limb, loop, lung, mandible, medullary stroma, midgut, molar, oesophagus, olfactory, penis, pituitary, rectum, retina, spinal cord, stomach, thyroid, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	
IN-CTX-MGE1	ARX	1.570111717	0	Transcription factor	BrainSpLMD|170302;Eurexp|euxassay_018148|floor plate, floorplate, mantle layer, mesenchyme, ovary, pancreas, paramesonephric duct, skeletal muscle, tarsus, ventricle, ventricular layer;BrainSpMouseDev|11665	SFARI||Autism, No category;OMIM|300382;HPO|170302|Abnormal hair pattern, Abnormality of skin morphology, Abnormality of the hip bone, Agenesis of corpus callosum, Ambiguous genitalia, Broad alveolar ridges, Choreoathetosis, Coarse facial features, Cryptorchidism, Death in infancy, Decreased testicular size, Delayed speech and language development, Developmental regression, Diarrhea, Duane anomaly, Dysarthria, Dysphagia, Dyspnea, Dystonia, EEG abnormality, Epileptic encephalopathy, Feeding difficulties in infancy, Flexion contracture, Focal dystonia, Generalized hirsutism, Generalized hypotonia, Generalized myoclonic seizures, Gliosis, Global developmental delay, Hemiplegia, High forehead, High palate, Hirsutism, Hyperconvex nail, Hyperreflexia, Hypohidrosis, Hypoplasia of penis, Hypospadias, Hypsarrhythmia, Infantile spasms, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Large eyes, Limb dystonia, Limb joint contracture, Lissencephaly, Long philtrum, Long upper lip, Low anterior hairline, Low-set ears, Lower limb spasticity, Malabsorption, Microcephaly, Micrognathia, Micropenis, Muscle stiffness, Muscular hypotonia, Muscular hypotonia of the trunk, Myoclonus, Neonatal hypotonia, Nystagmus, Optic atrophy, Overlapping toe, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Prominent supraorbital ridges, Protruding ear, Renal dysplasia, Rigidity, Scoliosis, Seizures, Severe global developmental delay, Short stature, Spastic tetraplegia, Spasticity, Specific learning disability, Status epilepticus, Strabismus, Synophrys, Tapered finger, Tetraplegia, Thin upper lip vermilion, Triangular face, Ventriculomegaly, Visual impairment, Wide anterior fontanel, Wide nasal bridge, X-linked inheritance, X-linked recessive inheritance
IN-CTX-MGE1	GAD1	1.567378054	0	Enzyme: Decarboxylase	BrainSpLMD|2571;Eurexp|euxassay_005634|cerebral cortex, corpus striatum, hindbrain, incisor, mantle layer, marginal layer, molar, olfactory lobe, oral region, spinal cord, telencephalon;BrainSpMouseDev|14191	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605363;HPO|2571|Autosomal recessive inheritance, Babinski sign, Cerebral palsy, Flexion contracture, Global developmental delay, Heterogeneous, Hyperreflexia, Infantile onset, Intellectual disability, Microcephaly, Scoliosis, Seizures, Spastic diplegia, Spastic tetraplegia
IN-CTX-MGE1	RP11.588P7.1	1.525828004	0			
IN-CTX-MGE1	GRIA4	1.520468938	0	Extracellular ligand gated channel	BrainSpLMD|2893;Eurexp|euxassay_006297|bladder, brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, ductus deferens, facial VII, incisor, loop, medulla, metanephros, molar, neural retina, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|14578	OMIM|138246
IN-CTX-MGE1	PLS3	1.440218663	0	Structural protein	BrainSpLMD|5358	OMIM|300131;HPO|5358|Osteopenia, Osteoporosis, Vertebral compression fractures, X-linked dominant inheritance
IN-CTX-MGE1	DLX5	1.428424162	0	Transcription regulatory protein	BrainSpLMD|1749;BrainSpMouseDev|13174	OMIM|600028;HPO|1749|Autosomal recessive inheritance, Finger syndactyly, Oligodactyly, Sensorineural hearing impairment, Split foot, Split hand
IN-CTX-MGE1	NRXN3	1.337010556	0	Adhesion molecule	BrainSpLMD|9369;Eurexp|euxassay_009777|bladder, collecting ducts, inner ear, mantle layer, marginal layer, neural retina, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|600567
IN-CTX-MGE1	BMP3	1.326702157	0	Ligand	BrainSpLMD|651;Eurexp|euxassay_008763|axial muscle, axial skeleton, cervical, cervico-thoracic, extrinsic ocular muscle, lip, lung, mandible, mantle layer, maxilla, mesenchyme, metanephros, metatarsus, midgut, nasal septum, nucleus pulposus, orbito-sphenoid, palatal shelf, phalanx, pharyngo-tympanic tube, rib, skeletal muscle, stomach, temporal bone, thoracic, turbinate bones, ureter, urethra, vibrissa;BrainSpMouseDev|74232	OMIM|112263
IN-CTX-MGE1	TMEM2	1.310814617	0	Integral membrane protein	BrainSpLMD|23670	OMIM|605835
IN-CTX-MGE1	DLX2	1.310634652	0	Transcription factor	BrainSpLMD|1746;BrainSpMouseDev|13171	SFARI||Autism, 4 - Minimal evidence;OMIM|126255
IN-CTX-MGE1	ST8SIA5	1.294794594	0	Enzyme: Sialyltransferase	BrainSpLMD|29906	OMIM|607162
IN-CTX-MGE1	DLX6	1.260632739	0	Transcription factor	BrainSpLMD|1750;BrainSpMouseDev|13175	SFARI||Autism, 4 - Minimal evidence;OMIM|600030;HPO|1750|Finger syndactyly, Oligodactyly
IN-CTX-MGE1	SOX1	1.254022681	0	Transcription factor	BrainSpLMD|6656;Eurexp|euxassay_019565|ventral grey horn, ventricular layer	OMIM|602148
IN-CTX-MGE1	SP9	1.241704367	0		BrainSpLMD|100131390;BrainSpMouseDev|120188	
IN-CTX-MGE1	PDE4DIP	1.229140666	0	Transport/cargo protein	BrainSpLMD|9659;Eurexp|euxassay_015920|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|608117;COSMIC||MPN
IN-CTX-MGE1	CH17.472G23.1	1.188062589	0			
IN-CTX-MGE1	FAM65B	1.179419702	0			
IN-CTX-MGE1	CADPS	1.166662637	0	Membrane transport protein	BrainSpLMD|8618;Eurexp|euxassay_006311|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral wall, mantle layer, meninges, neural retina, olfactory, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|604667
IN-CTX-MGE1	CUX1	1.16291558	0	Transcription regulatory protein	BrainSpLMD|1523;BrainSpMouseDev|12828	SFARI||Autism, 3 - Suggestive evidence;OMIM|116896;COSMIC||endometrial, melanoma, colorectal, AML, MDS, other tumour types
IN-CTX-MGE1	RBP1	1.133115234	0	Transport/cargo protein	BrainSpLMD|5947;Eurexp|euxassay_003315|brain, corpus striatum, forelimb, hindbrain, hindlimb, mantle layer, midgut, olfactory lobe, telencephalon, turbinate bones	OMIM|180260
IN-CTX-MGE1	SOX2.OT	1.111204063	0			
IN-CTX-MGE1	CH17.472G23.4	1.102921634	0			
IN-CTX-MGE1	RUNX1T1	1.099144295	0	Transcription regulatory protein	BrainSpLMD|862;Eurexp|euxassay_016597|dorsal grey horn, mantle layer;BrainSpMouseDev|12180	OMIM|133435;COSMIC||AML
IN-CTX-MGE1	DLX6.AS1	1.056723041	0			
IN-CTX-MGE1	SLAIN1	1.016997543	0	Unclassified	BrainSpLMD|122060	OMIM|610491
IN-CTX-MGE1	DCX	0.973901804	0	Cytoskeletal associated protein	BrainSpLMD|1641;Eurexp|euxassay_018537|brain, capsule, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|12973	SFARI||Autism, No category;OMIM|300121;HPO|1641|Agenesis of corpus callosum, Ataxia, Death in infancy, Dysarthria, Feeding difficulties, Hypertonia, Incomplete penetrance, Infantile onset, Intellectual disability, Intellectual disability, severe, Lissencephaly, Micropenis, Motor delay, Muscular hypotonia, Muscular hypotonia of the trunk, Nystagmus, Pachygyria, Postnatal growth retardation, Seizures, X-linked inheritance
IN-CTX-MGE1	ZEB2	0.956256647	0	Transcription regulatory protein	BrainSpLMD|9839;Eurexp|euxassay_005774|bladder, dorsal grey horn, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, lung, mantle layer, metanephros, midgut, nasal septum, penis, pharyngo-tympanic tube, stomach;BrainSpMouseDev|23887	OMIM|605802;HPO|9839|Abdominal distention, Abnormality of metabolism/homeostasis, Abnormality of the abdominal wall, Abnormality of the rib cage, Absent speech, Atrial septal defect, Autosomal dominant inheritance, Broad eyebrow, Delayed eruption of teeth, Drooling, Generalized hypotonia, Happy demeanor, Hypoplasia of the corpus callosum, Intellectual disability, moderate, Motor delay, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pulmonary artery sling, Pulmonary artery stenosis, Pulmonic stenosis, Supernumerary nipple, Ventricular septal defect, Vomiting, Widely spaced teeth
IN-CTX-MGE1	SOX6	0.835299832	0	Transcription factor	BrainSpLMD|55553;BrainSpMouseDev|20441	OMIM|607257
IN-CTX-MGE1	PDE4D	0.825260841	0	Enzyme: Phosphodiesterase	BrainSpLMD|5144	OMIM|600129;HPO|5144|Abnormal form of the vertebral bodies, Abnormality of female external genitalia, Abnormality of immune system physiology, Abnormality of the nail, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Anteverted nares, Autism, Autosomal dominant inheritance, Blue irides, Brachycephaly, Brachydactyly, Cerebral venous thrombosis, Cone-shaped epiphysis, Congenital craniofacial dysostosis, Congenital hypothyroidism, Congenital onset, Cryptorchidism, Delayed eruption of teeth, Delayed speech and language development, Depressed nasal bridge, Depressed nasal ridge, Diabetes mellitus, Elevated calcitonin, Elevated circulating parathyroid hormone level, Epiphyseal stippling, Fair hair, Global developmental delay, Growth hormone deficiency, Hearing impairment, Hyperactivity, Hyperphosphatemia, Hypertelorism, Hypocalcemia, Hypogonadism, Hypoplasia of the maxilla, Hypoplasia of the nasal bone, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic vertebral bodies, Hypospadias, Increased intracranial pressure, Intellectual disability, Intrauterine growth retardation, Malar flattening, Mandibular prognathia, Micromelia, Midface retrusion, Mild short stature, Narrow vertebral interpedicular distance, Obesity, Open mouth, Peripheral neuropathy, Pseudohypoparathyroidism, Red hair, Round face, Scoliosis, Short metacarpal, Short metatarsal, Short nose, Short phalanx of finger, Short stature, Short toe, Specific learning disability, Spinal canal stenosis, Wide nasal bridge
IN-CTX-MGE1	DLX1	0.81400949	0	Transcription factor	BrainSpLMD|1745;Eurexp|euxassay_008426|cochlea, epithelium, footplate, handplate, incisor, inner ear, mantle layer, midgut, naso-lacrimal duct, neural retina, oesophagus, paraxial mesenchyme, retina, skeletal muscle, skeleton, stomach, utricle, vibrissa;BrainSpMouseDev|13169	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600029
IN-CTX-MGE1	PFN2	0.799249124	0	Structural protein	BrainSpLMD|5217;Eurexp|euxassay_002518|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|176590
IN-CTX-MGE1	BCL11B	0.651708353	0	Transcription regulatory protein;DNA binding protein	BrainSpLMD|64919;BrainSpMouseDev|37240	OMIM|606558;COSMIC||T-ALL;HPO|64919|Absent speech, Autosomal dominant inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hirsutism, Hypertelorism, Inflammatory abnormality of the skin, Intellectual disability, Micrognathia, Natal tooth, Pulmonary artery stenosis, Seizures, Severe combined immunodeficiency, Short palpebral fissure, Spastic tetraplegia, Umbilical hernia, Wormian bones
IN-CTX-MGE1	TCF4	0.613915745	0	Transcription factor	BrainSpLMD|6925;BrainSpMouseDev|21174	SFARI||Autism, No category;OMIM|602272;HPO|6925|Abnormal large intestine physiology, Abnormality of the palate, Absent speech, Aggressive behavior, Anteverted nares, Aphasia, Ascites, Astigmatism, Ataxia, Autoimmunity, Autosomal dominant inheritance, Cirrhosis, Clinodactyly, Clubbing, Coarse facial features, Constipation, Cryptorchidism, Cupped ear, Deeply set eye, Dilated superficial abdominal veins, Dysautonomia, Dysphasia, Echolalia, Elevated alkaline phosphatase of hepatic origin, Elevated hepatic transaminases, Encephalopathy, Esophagitis, Failure of eruption of permanent teeth, Failure to thrive, Feeding difficulties, Fever, Full cheeks, Gait ataxia, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Hepatosplenomegaly, Hiatus hernia, Hypoplasia of the corpus callosum, Incoordination, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intermittent hyperventilation, Microcephaly, Micropenis, Misalignment of teeth, Motor delay, Muscular hypotonia, Mutism, Myopia, Narrow foot, Narrow forehead, Open mouth, Palmar telangiectasia, Pes planus, Pes valgus, Portal hypertension, Seizures, Short neck, Short philtrum, Single transverse palmar crease, Sleep apnea, Specific learning disability, Spider hemangioma, Splenomegaly, Strabismus, Tapered finger, Thick vermilion border, Thickened helices, Ulcerative colitis, Upslanted palpebral fissure, Weight loss, Wide mouth, Wide nasal bridge, Widely spaced teeth
IN-CTX-MGE1	SOX4	0.516605058	0	Transcription factor	BrainSpLMD|6659;Eurexp|euxassay_019583|cervical, cervico-thoracic, dorsal grey horn, dorsal root ganglion, incisor, lung, mantle layer, mesenchyme, metanephros, molar, neural retina, oesophagus, phalanx, submandibular gland primordium, testis, trachea, valve, vibrissa;BrainSpMouseDev|20439	OMIM|184430
IN-CTX-MGE1	STMN2	0.372517983	0	Cytoskeletal associated protein	BrainSpLMD|11075;Eurexp|euxassay_009268|cervical, cervico-thoracic, dorsal root ganglion, facial VII, footplate, forebrain, glossopharyngeal IX, handplate, hindbrain, hindgut, incisor, lip, midbrain, midgut, neural retina, oesophagus, olfactory, spinal cord, stomach, thoracic, thymus primordium, tongue, trigeminal V, vestibulocochlear VIII, vibrissa, visceral, vomeronasal organ	OMIM|600621
IN-CTX-MGE1	SOX11	0.337821809	0	Transcription factor	BrainSpLMD|6664;BrainSpMouseDev|20428	OMIM|600898;HPO|6664|Abnormal facial shape, Abnormality of cardiovascular system morphology, Abnormality of the columella, Abnormality of the dentition, Abnormality of the nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Autosomal dominant inheritance, Clinodactyly, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Everted lower lip vermilion, Feeding difficulties in infancy, Full cheeks, Generalized hirsutism, Global developmental delay, Hearing impairment, Highly arched eyebrow, Hypertrichosis, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Long nose, Low-set ears, Microcephaly, Midface retrusion, Muscular hypotonia, Nystagmus, Open mouth, Posteriorly rotated ears, Recurrent respiratory infections, Scoliosis, Seizures, Short chin, Short distal phalanx of finger, Short nose, Short palpebral fissure, Short philtrum, Short stature, Slow-growing hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick vermilion border, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Wide mouth, Wide nasal bridge
IN-CTX-MGE1	BCL11A	0.331310693	0	DNA binding protein	BrainSpLMD|53335;Eurexp|euxassay_007892|dorsal grey horn, incisor, naris, olfactory, pharyngo-tympanic tube, submandibular gland primordium, vibrissa;BrainSpMouseDev|13802	SFARI||Autism, 2 - Strong candidate;OMIM|606557;COSMIC||B-CLL;HPO|53335|Autosomal dominant inheritance, Congenital onset, Cupped ear, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, Global developmental delay, Intellectual disability, Joint hypermobility, Low-set ears, Microcephaly, Midface retrusion, Overfolded helix, Retrognathia, Strabismus, Thin upper lip vermilion
IN-CTX-MGE1	STMN1	0.305986531	0	Structural protein	BrainSpLMD|3925;Eurexp|euxassay_008627|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|151442
IN-CTX-MGE1	PAM	1.477153256	1.11E-16	Enzyme: Oxygenase	BrainSpLMD|5066;Eurexp|euxassay_007685|atrium, axial skeleton, dorsal grey horn, dorsal root ganglion, extrinsic ocular muscle, eyelid, floorplate, glossopharyngeal IX, hindgut, incisor, inner ear, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 4 and 5, lip, mandible, mantle layer, maxilla, medulla, midgut, molar, neural retina, oesophagus, palatal shelf, pancreas, skeletal muscle, stomach, thyroid, trachea, trigeminal V, vagus X, ventricle, ventricular layer, vibrissa	OMIM|170270
IN-CTX-MGE1	GAD2	1.028842819	2.22E-16	Enzyme: Decarboxylase	BrainSpLMD|2572;Eurexp|euxassay_001769|dorsal grey horn, lateral ventricle, mantle layer;BrainSpMouseDev|14193	OMIM|138275
IN-CTX-MGE1	CELF4	1.06161381	3.33E-16	RNA binding protein	BrainSpLMD|56853;Eurexp|euxassay_009241|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|612679
IN-CTX-MGE1	MEG3	0.560007498	3.33E-16			OMIM|605636
IN-CTX-MGE1	TMSB10	0.450451839	5.55E-16	Cytoskeletal associated protein	BrainSpLMD|9168	OMIM|188399
IN-CTX-MGE1	MTSS1	1.039842912	6.66E-16	Cytoskeletal associated protein	BrainSpLMD|9788	OMIM|608486
IN-CTX-MGE1	ELMO1	1.025467549	8.88E-16	Unclassified;Motor protein	BrainSpLMD|9844;Eurexp|euxassay_012546|floor plate, floorplate, mantle layer, marginal layer, vibrissa	OMIM|606420
IN-CTX-MGE1	MLLT11	0.545208964	9.99E-16	Unclassified	BrainSpLMD|10962;Eurexp|euxassay_010405|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|604684;COSMIC||ALL;HPO|10962|Autosomal dominant inheritance, Juvenile myelomonocytic leukemia, Somatic mutation
IN-CTX-MGE1	ATRNL1	1.274064963	1.22E-15	Integral membrane protein	BrainSpLMD|26033	SFARI||Autism, 5 - Hypothesized but untested;OMIM|612869
IN-CTX-MGE1	DPYSL3	0.866132465	3.66E-15	Enzyme: Hydrolase	BrainSpLMD|1809;Eurexp|euxassay_010399|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, midbrain, midgut, neural retina, olfactory, stomach, telencephalon, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|601168
IN-CTX-MGE1	GRIA1	0.87341974	4.77E-15	Extracellular ligand gated channel	BrainSpLMD|2890;Eurexp|euxassay_018233|mantle layer, neural retina, palatal shelf, saccule;BrainSpMouseDev|14575	SFARI||Autism, 2 - Strong candidate;OMIM|138248
IN-CTX-MGE1	MOB3B	1.291734333	5.55E-15	Unclassified	BrainSpLMD|79817;Eurexp|euxassay_011555|incisor, molar	OMIM|617652
IN-CTX-MGE1	QKI	0.697120171	9.44E-15	RNA binding protein	BrainSpLMD|9444;Eurexp|euxassay_012259|diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, lens, lung, mandible, mantle layer, marginal layer, maxilla, meninges, midgut, neural retina, orbito-sphenoid, petrous part, skeletal muscle, stomach, submandibular gland primordium, turbinate, vault of skull, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|609590;COSMIC||angiocentric glioma, colorectal cancer
IN-CTX-MGE1	PTBP2	0.611405998	2.65E-14	RNA binding protein	BrainSpLMD|58155	SFARI||Autism, 4 - Minimal evidence;OMIM|608449
IN-CTX-MGE1	INA	0.643235826	5.50E-14	Cytoskeletal protein	BrainSpLMD|9118;Eurexp|euxassay_012424|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|605338
IN-CTX-MGE1	SYT1	0.615355511	5.70E-13	Calcium binding protein	BrainSpLMD|6857;Eurexp|euxassay_018026|adrenal gland, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, epithelium, external, facial VII, foregut-midgut junction, glossopharyngeal IX, hindbrain, hindgut, incisor, limb, mantle layer, marginal layer, mesenchyme, midbrain, midgut, neural retina, oesophagus, olfactory, oral epithelium, pectoralis major, pectoralis minor, pituitary, retina, spinal cord, stomach, stroma, thoracic, tongue, trigeminal V, ureter, urethra, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|20740	OMIM|185605
IN-CTX-MGE1	DSCAML1	1.609581851	9.12E-13	Adhesion molecule	BrainSpLMD|57453;Eurexp|euxassay_015851|dorsal grey horn, mantle layer, olfactory, vomeronasal organ;BrainSpMouseDev|77592	OMIM|611782
IN-CTX-MGE1	FGD3	0.904640537	1.53E-12	Guanine nucleotide exchange factor	BrainSpLMD|89846;Eurexp|euxassay_010184|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vestibulocochlear VIII	OMIM|617554
IN-CTX-MGE1	SATB1	0.964865988	3.54E-12	Transcription factor	BrainSpLMD|6304;Eurexp|euxassay_018001|cervical, cervico-thoracic, dorsal root ganglion, epidermis, facial VII, glossopharyngeal IX, marginal layer, neural retina, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|19993	OMIM|602075
IN-CTX-MGE1	RPL7AP30	0.973259275	7.36E-12			
IN-CTX-MGE1	MAGI2	1.057203645	1.41E-11	Unclassified	BrainSpLMD|9863	OMIM|606382
IN-CTX-MGE1	CHL1	1.003202908	1.46E-11	Adhesion molecule	BrainSpLMD|10752;BrainSpMouseDev|12446	OMIM|607416;HPO|10752|Atrioventricular canal defect, Brachycephaly, Cleft palate, Cognitive impairment, Cryptorchidism, Downturned corners of mouth, Epicanthus, Hearing impairment, High palate, Hypertelorism, Intrauterine growth retardation, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscular hypotonia, Postaxial hand polydactyly, Ptosis, Short stature, Telecanthus
IN-CTX-MGE1	ZNF91	0.855875593	1.56E-11	Transcription regulatory protein	BrainSpLMD|7644	OMIM|603971
IN-CTX-MGE1	FNBP1	0.974397026	3.02E-11	Unclassified	BrainSpLMD|23048;Eurexp|euxassay_002195|bladder, diencephalon, dorsal root ganglion, hindbrain, midbrain, spinal cord, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|606191;COSMIC||AML
IN-CTX-MGE1	NTN4	1.205141275	5.55E-11	Extracellular matrix protein	BrainSpLMD|59277;Eurexp|euxassay_007631|valve, ventricular layer;BrainSpMouseDev|37036	OMIM|610401
IN-CTX-MGE1	MIR181A1HG	1.072590882	6.05E-11			
IN-CTX-MGE1	NREP	0.56615209	8.75E-11	Unclassified	BrainSpLMD|9315	OMIM|607332
IN-CTX-MGE1	MYCBP2	0.728756879	9.01E-11	Transcription regulatory protein	BrainSpLMD|23077;Eurexp|euxassay_009485|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|69854	OMIM|610392
IN-CTX-MGE1	TSC22D2	0.840642265	2.16E-10	Unclassified	BrainSpLMD|9819	OMIM|617724
IN-CTX-MGE1	CSRNP3	0.801200151	6.13E-10	Unclassified	BrainSpLMD|80034;Eurexp|euxassay_009789|brain, mantle layer, spinal cord, trigeminal V, ventricular layer	
IN-CTX-MGE1	SEMA6A	0.958672875	6.67E-10	Integral membrane protein	BrainSpLMD|57556;Eurexp|euxassay_011666|axial skeleton, clavicle, cochlea, mandible, mantle layer, marginal layer, maxilla, meninges, mesenchyme, metanephros, neural retina, palatal shelf, skeletal muscle, submandibular gland primordium, thyroid, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|20121	OMIM|605885
IN-CTX-MGE1	EEF1B2P3	0.435786525	1.38E-09			
IN-CTX-MGE1	NELL1	1.362277927	1.43E-09	Enzyme: Oxidoreductase	BrainSpLMD|4745	SFARI||Autism, No category;OMIM|602319
IN-CTX-MGE1	NMNAT2	0.982560352	3.68E-09	Unclassified;Enzyme: Transferase	BrainSpLMD|23057;Eurexp|euxassay_007621|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, medulla oblongata, metencephalon, midbrain, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608701
IN-CTX-MGE1	KIAA0922	0.914579594	4.56E-09			
IN-CTX-MGE1	CCDC88A	0.504095506	7.36E-09	Cytoskeletal protein	BrainSpLMD|55704;Eurexp|euxassay_012890|mantle layer, ventral grey horn	OMIM|609736;HPO|55704|Abnormality of the hand, Autosomal recessive inheritance, Cerebellar atrophy, Developmental stagnation, Edema, Epicanthus, Feeding difficulties in infancy, Full cheeks, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile encephalopathy, Intellectual disability, profound, Myoclonus, Narrow forehead, Neuronal loss in central nervous system, Open mouth, Optic atrophy, Pachygyria, Peripheral dysmyelination, Polymicrogyria, Progressive microcephaly, Retrognathia, Seizures, Severe muscular hypotonia, Short nose, Tented upper lip vermilion, Undetectable visual evoked potentials
IN-CTX-MGE1	AKAP9	0.44599366	2.30E-08	Adapter molecule	BrainSpLMD|10142;Eurexp|euxassay_007743|embryo	SFARI||Autism, 3 - Suggestive evidence;OMIM|604001;COSMIC||papillary thyroid;HPO|10142|Autosomal dominant inheritance, Prolonged QT interval, Syncope
IN-CTX-MGE1	DCLK1	0.526630069	2.74E-08	Serine/threonine kinase	BrainSpLMD|9201;Eurexp|euxassay_018536|floor plate, floorplate, mantle layer, ventral grey horn, ventricular layer	OMIM|604742
IN-CTX-MGE1	RIMS1	1.299709379	2.78E-08	Transport/cargo protein	BrainSpLMD|22999	SFARI||Autism, 2 - Strong candidate;OMIM|606629;HPO|22999|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal dominant inheritance, Bull's eye maculopathy, Cone/cone-rod dystrophy, Nyctalopia, Photophobia, Retinal flecks, Visual impairment
IN-CTX-MGE1	PRKD1	0.952856068	3.02E-08	Serine/threonine kinase	BrainSpLMD|5587	SFARI||Autism, No category;OMIM|605435;HPO|5587|Autosomal dominant inheritance, Broad thumb, Delayed speech and language development, Depressed nasal bridge, Dry skin, Feeding difficulties, Fragile nails, Generalized hypotonia, Global developmental delay, Microcephaly, Microdontia, Nystagmus, Premature loss of primary teeth, Prominent forehead, Prominent nasal bridge, Scoliosis, Sparse scalp hair, Syndactyly, Thin skin, Widely spaced teeth
IN-CTX-MGE1	CAMTA1	0.85389124	3.80E-08	Unclassified	BrainSpLMD|23261;BrainSpMouseDev|64242	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611501;COSMIC||epithelioid haemangioendothelioma;HPO|23261|Anteverted nares, Autosomal dominant inheritance, Bulbous nose, Cerebral cortical atrophy, Delayed speech and language development, Dysarthria, Dysmetria, Global developmental delay, Intellectual disability, mild, Long face, Long philtrum, Neonatal hypotonia, Pointed chin, Thick lower lip vermilion, Unsteady gait
IN-CTX-MGE1	ARL4C	0.84787566	4.08E-08	GTPase	BrainSpLMD|10123;Eurexp|euxassay_016423|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII	OMIM|604787
IN-CTX-MGE1	KIF2A	1.047389614	8.26E-08	Motor protein	BrainSpLMD|3796;Eurexp|euxassay_010580|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	OMIM|602591;HPO|3796|Autosomal dominant inheritance, Cortical dysplasia, Global developmental delay, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly, Pachygyria, Seizures, Spastic tetraplegia
IN-CTX-MGE1	DST	0.685506263	9.70E-08	Cytoskeletal associated protein	BrainSpLMD|667;Eurexp|euxassay_016245|incisor, molar, oesophagus, olfactory, oral epithelium, stomach, urethra, vibrissa;BrainSpMouseDev|13297	SFARI||Autism, 4 - Minimal evidence;OMIM|113810;HPO|667|Alacrima, Apnea, Areflexia, Atrophic scars, Autosomal recessive inheritance, Blotching pigmentation of the skin, Bradycardia, Corneal scarring, Feeding difficulties, Fever, Flexion contracture, Growth delay, Hand clenching, Hyperhidrosis, Limited hip extension, Neonatal hypotonia, Open mouth, Respiratory insufficiency, Sensory neuropathy, Tachycardia, Talipes equinovarus
IN-CTX-MGE1	SLC6A1	0.383229711	1.41E-07	Membrane transport protein	BrainSpLMD|6529;Eurexp|euxassay_018302|brain, glossopharyngeal IX, marginal layer, neural retina, spinal cord, vestibulocochlear VIII;BrainSpMouseDev|87401	SFARI||Autism, 2 - Strong candidate;OMIM|137165;HPO|6529|Abnormal brain FDG positron emission tomography, Absence seizures, Ataxia, Atonic seizures, Autosomal dominant inheritance, Developmental regression, Dysarthria, EEG with abnormally slow frequencies, EEG with spike-wave complexes (>3.5 Hz), Epileptic encephalopathy, Eyelid myoclonus, Intellectual disability, Mental deterioration, Myoclonic atonic seizures, Status epilepticus
IN-CTX-MGE1	LINC00969	1.027493945	1.90E-07			
IN-CTX-MGE1	TMEM123	0.861326047	2.11E-07	Cell surface receptor	BrainSpLMD|114908	OMIM|606356
IN-CTX-MGE1	ARL4D	1.065280473	2.19E-07	GTPase	BrainSpLMD|379	OMIM|600732
IN-CTX-MGE1	CDK14	1.485202197	2.66E-07	Serine/threonine kinase	BrainSpLMD|5218;Eurexp|euxassay_007197|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, oesophagus, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|610679
IN-CTX-MGE1	DYNLT1	0.328140512	3.64E-07	Unclassified	BrainSpLMD|6993;Eurexp|euxassay_007062|embryo	OMIM|601554
IN-CTX-MGE1	NPAS3	0.876799584	4.41E-07	Transcription factor	BrainSpLMD|64067;Eurexp|euxassay_009424|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|27131	OMIM|609430
IN-CTX-MGE1	TRERF1	0.833776918	4.44E-07	Transcription factor	BrainSpLMD|55809	OMIM|610322
IN-CTX-MGE1	TENM2	0.943361481	5.38E-07	Translation regulatory protein		OMIM|610119
IN-CTX-MGE1	ENY2	0.514191327	6.82E-07	Transcription factor	BrainSpLMD|56943;Eurexp|euxassay_006635|ventricular layer	
IN-CTX-MGE1	PPP1R10	0.377302835	7.91E-07	Serine/threonine phosphatase	BrainSpLMD|5514	OMIM|603771
IN-CTX-MGE1	KIAA1598	0.310838619	1.01E-06			
IN-CTX-MGE1	NOP10	0.503893585	1.02E-06	Ribonucleoprotein	BrainSpLMD|55505	OMIM|606471;HPO|55505|Abnormal blistering of the skin, Abnormality of coagulation, Abnormality of female internal genitalia, Abnormality of neutrophils, Abnormality of the fingernails, Abnormality of the pharynx, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic anemia, Aplastic/hypoplastic toenail, Autosomal recessive inheritance, Bone marrow hypocellularity, Carious teeth, Cellular immunodeficiency, Esophageal stenosis, Esophageal stricture, Global developmental delay, Hepatic fibrosis, Hyperhidrosis, Hypermelanotic macule, Hyperpigmentation of the skin, Hypodontia, Hypopigmented skin patches, Increased lacrimation, Intellectual disability, Intrauterine growth retardation, Malabsorption, Microcephaly, Microdontia, Nail dysplasia, Nail dystrophy, Nasolacrimal duct obstruction, Oral leukoplakia, Osteoporosis, Periodontitis, Phenotypic variability, Pterygium of nails, Pulmonary fibrosis, Recurrent fractures, Recurrent respiratory infections, Rough bone trabeculation, Short stature, Skin ulcer, Small nail, Sparse eyelashes, Sparse hair, Sparse scalp hair, Taurodontia, Telangiectasia of the skin, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis
IN-CTX-MGE1	METAP1D	1.026383747	1.02E-06		BrainSpLMD|254042	OMIM|610267
IN-CTX-MGE1	COX6A1	0.392603058	1.28E-06	Enzyme: Oxidoreductase		OMIM|602072;HPO|1337|Areflexia, Autosomal recessive inheritance, Distal sensory impairment, Foot dorsiflexor weakness, Hyporeflexia, Onion bulb formation, Pes cavus, Slow progression, Steppage gait
IN-CTX-MGE1	IFI44	1.198051696	1.31E-06	Unclassified	BrainSpLMD|10561	OMIM|610468
IN-CTX-MGE1	CCT2	0.265110424	1.44E-06	Chaperone	BrainSpLMD|10576	OMIM|605139
IN-CTX-MGE1	ZNF608	0.85973211	1.72E-06	Unclassified		
IN-CTX-MGE1	SCNM1	0.414268842	1.90E-06	Unclassified	BrainSpLMD|79005	OMIM|608095
IN-CTX-MGE1	SMARCA1	0.469248405	2.00E-06	Transcription regulatory protein	BrainSpLMD|6594;Eurexp|euxassay_015278|floorplate, hindgut, midgut, stomach	OMIM|300012
IN-CTX-MGE1	DACT1	0.831799762	2.01E-06	Unclassified	BrainSpLMD|51339;Eurexp|euxassay_009577|aorta, associated mesenchyme, capsule, cartilaginous ring, cortex, mantle layer, medullary stroma, mesenchyme, mesentery, midgut, oesophagus;BrainSpMouseDev|37599	OMIM|607861;HPO|51339|Anal atresia, Anencephaly, Anteriorly placed anus, Autosomal dominant inheritance, Bifid uterus, Cervical spina bifida, Clinodactyly of the 5th finger, Constipation, Crossed fused renal ectopia, Cryptorchidism, Cupped ear, External ear malformation, Hearing impairment, Hypospadias, Microtia, Myelomeningocele, Overfolded helix, Pes planus, Preauricular skin tag, Preaxial hand polydactyly, Rectoperineal fistula, Rectovaginal fistula, Renal insufficiency, Scoliosis, Spina bifida occulta, Subcutaneous nodule, Toe clinodactyly, Triphalangeal thumb
IN-CTX-MGE1	HIVEP3	0.651589804	2.81E-06	Transcription regulatory protein	BrainSpLMD|59269;BrainSpMouseDev|16428	SFARI||Autism, 3 - Suggestive evidence;OMIM|606649
IN-CTX-MGE1	PCDH19	1.551941485	2.98E-06	Adhesion molecule	BrainSpMouseDev|93556	SFARI||Autism, No category;OMIM|300460;HPO|57526|Absence seizures, Aggressive behavior, Ataxia, Atonic seizures, Cutaneous photosensitivity, EEG abnormality, Febrile seizures, Focal clonic seizures, Focal seizures, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Infantile onset, Intellectual disability, Muscular hypotonia, Neurodevelopmental delay, Obtundation status, Pschomotor retardation, Psychosis, Status epilepticus, Tremor, X-linked inheritance
IN-CTX-MGE1	MRPL33	0.415565863	3.67E-06	Ribosomal subunit	BrainSpLMD|9553	OMIM|610059
IN-CTX-MGE1	TUBB2B	0.250961803	4.84E-06	Cytoskeletal protein	BrainSpLMD|347733;Eurexp|euxassay_006373|embryo	OMIM|612850;HPO|347733|Agenesis of corpus callosum, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral palsy, Drooling, Frontoparietal cortical dysplasia, Gait disturbance, Global developmental delay, Hemiparesis, Hyperreflexia, Hypoplasia of the corpus callosum, Intellectual disability, Lissencephaly, Microcephaly, Motor delay, Muscular hypotonia, Pachygyria, Seizures, Short stature, Skeletal muscle atrophy, Specific learning disability, Strabismus, Unilateral polymicrogyria, Variable expressivity
IN-CTX-MGE1	KPNA6	0.425244083	5.27E-06	Adapter molecule	BrainSpLMD|23633	OMIM|610563
IN-CTX-MGE1	GRIK2	0.532875331	5.76E-06	Extracellular ligand gated channel	BrainSpLMD|2898;Eurexp|euxassay_008383|cerebellum, cortex, diencephalon, footplate, hindgut, medulla oblongata, midbrain, midgut, pituitary, pons, spinal cord, stomach, telencephalon, tongue, trigeminal V;BrainSpMouseDev|14582	SFARI||Autism, 3 - Suggestive evidence;OMIM|138244;HPO|2898|Autosomal recessive inheritance, Global developmental delay, Infantile onset, Intellectual disability
IN-CTX-MGE1	EPHA3	0.51378317	6.26E-06	Receptor tyrosine kinase	BrainSpLMD|2042;Eurexp|euxassay_018957|axial muscle, clavicle, cranial muscle, extrinsic ocular muscle, floorplate, head mesenchyme, incisor, lip, lung, mantle layer, marginal layer, mesenchyme, molar, naris, palatal shelf, pectoral girdle and thoracic body wall, skeletal muscle, tarsus, thymus primordium, tongue, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|13615	OMIM|179611;COSMIC||lung cancer, CRC, melanoma
IN-CTX-MGE1	SF3B2	0.345493595	6.81E-06	RNA binding protein	BrainSpLMD|10992	OMIM|605591
IN-CTX-MGE1	LARS	0.28890102	7.53E-06	Enzyme: Ligase	BrainSpLMD|51520;Eurexp|euxassay_012121|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, tibia, turbinate bones	OMIM|151350;HPO|51520|Abnormality of the coagulation cascade, Acute hepatic failure, Anemia, Autosomal recessive inheritance, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hepatomegaly, Lactic acidosis, Macrocytic anemia, Microcephaly, Seizures
IN-CTX-MGE1	NNAT	0.358297643	7.71E-06	Regulatory/other subunit	BrainSpLMD|4826;Eurexp|euxassay_007364|brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, mesenchyme, mesothelium, midgut, neural retina, oesophagus, olfactory, paraxial mesenchyme, pericardial cavity, peritoneal cavity, right lung, skeletal muscle, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|17878	OMIM|603106
IN-CTX-MGE1	GPIHBP1	0.601229915	8.07E-06	Unclassified	BrainSpLMD|338328	OMIM|612757;HPO|338328|Acute pancreatitis, Autosomal recessive inheritance, Episodic abdominal pain, Eruptive xanthomas, Failure to thrive, Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Hyperlipoproteinemia, Hypertriglyceridemia, Increased circulating chylomicron levels, Lipemia retinalis, Recurrent pancreatitis, Splenomegaly
IN-CTX-MGE1	PSMC3	0.361258303	8.09E-06	Ubiquitin proteasome system protein	BrainSpLMD|5702	OMIM|186852
IN-CTX-MGE1	DAPK1	0.693320335	8.88E-06	Serine/threonine kinase	BrainSpLMD|1612	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600831
IN-CTX-MGE1	PDZRN3	0.873002769	8.94E-06	Unclassified	BrainSpLMD|23024;Eurexp|euxassay_000356|mantle layer	OMIM|609729
IN-CTX-MGE1	UXT	0.334633283	9.26E-06	Transcription regulatory protein	BrainSpLMD|8409	OMIM|300234
IN-CTX-MGE1	NBPF11	0.704044163	1.01E-05	Unclassified	BrainSpLMD|200030	OMIM|614001
IN-CTX-MGE1	DKC1	0.370270333	1.13E-05	RNA binding protein	BrainSpLMD|1736	OMIM|300126;HPO|1736|Abnormal blistering of the skin, Abnormality of coagulation, Abnormality of female internal genitalia, Abnormality of neutrophils, Abnormality of the fingernails, Abnormality of the pharynx, Acute myeloid leukemia, Alopecia, Anal mucosal leukoplakia, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Blepharitis, Bone marrow hypocellularity, Carious teeth, Cataract, Cellular immunodeficiency, Cerebellar hypoplasia, Cerebral cortical atrophy, Cirrhosis, Conjunctivitis, Cryptorchidism, Decreased testicular size, Dermal atrophy, Esophageal stenosis, Esophageal stricture, Excessive wrinkled skin, Failure to thrive, Generalized hyperpigmentation, Generalized hypopigmentation of hair, Global developmental delay, Hodgkin lymphoma, Horseshoe kidney, Hyperhidrosis, Hypermelanotic macule, Hyperpigmentation of the skin, Hypertonia, Hypodontia, Hypopigmented skin patches, Hypospadias, Immunodeficiency, Increased lacrimation, Intellectual disability, Intrauterine growth retardation, Leukopenia, Malabsorption, Microcephaly, Myelodysplasia, Nail dystrophy, Optic atrophy, Oral leukoplakia, Osteoporosis, Pancytopenia, Periodontitis, Phimosis, Premature graying of hair, Premature loss of teeth, Pterygium of nails, Pulmonary fibrosis, Recurrent fractures, Recurrent respiratory infections, Restrictive ventilatory defect, Reticulated skin pigmentation, Ridged nail, Rough bone trabeculation, Short stature, Skin ulcer, Sparse eyelashes, Sparse hair, Sparse scalp hair, Split nail, Squamous cell carcinoma, Strabismus, Taurodontia, Telangiectasia of the skin, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis, Ventriculomegaly, X-linked recessive inheritance
IN-CTX-MGE1	CRMP1	0.671574447	1.57E-05	Enzyme: Hydrolase	BrainSpLMD|1400;Eurexp|euxassay_006182|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, genital tubercle, glossopharyngeal IX, midgut, neural retina, rectum, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602462
IN-CTX-MGE1	RPAIN	0.336179031	1.59E-05	Transport/cargo protein	BrainSpLMD|84268	OMIM|617299
IN-CTX-MGE1	CCSER1	1.158039842	1.95E-05	Unclassified	BrainSpLMD|401145;Eurexp|euxassay_016073|cervical, cervico-thoracic, facial VII, glossopharyngeal IX, mantle layer, marginal layer, metanephros, thoracic, trachea	
IN-CTX-MGE1	BTG1	0.64361417	2.03E-05	Cell cycle control protein	BrainSpLMD|694	OMIM|109580;COSMIC||B-CLL
IN-CTX-MGE1	ARL8B	0.553065713	2.79E-05	GTPase	BrainSpLMD|55207	OMIM|616596
IN-CTX-MGE1	COPS6	0.338299909	2.94E-05	Cell cycle control protein	BrainSpLMD|10980	OMIM|614729
IN-CTX-MGE1	BLOC1S1	0.695867313	2.98E-05	Enzyme: Acyltransferase	BrainSpLMD|2647	OMIM|601444
IN-CTX-MGE1	SLCO5A1	0.840913175	3.08E-05	Membrane transport protein	BrainSpLMD|81796;Eurexp|euxassay_019698|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, pericardium, trigeminal V, vestibulocochlear VIII	OMIM|613543
IN-CTX-MGE1	RP11.267J23.4	0.389857052	3.15E-05			
IN-CTX-MGE1	NBEA	0.940781938	3.35E-05	Anchor protein	BrainSpLMD|26960	SFARI||Autism, 4 - Minimal evidence;OMIM|604889;COSMIC||large intestine carcinoma, multiple myeloma
IN-CTX-MGE1	PSMD11	0.32751362	3.86E-05	Ubiquitin proteasome system protein	BrainSpLMD|5717	OMIM|604449
IN-CTX-MGE1	FAM110B	0.578245821	4.35E-05	Unclassified	BrainSpLMD|90362	OMIM|611394
IN-CTX-MGE1	SBF2	0.482462919	4.66E-05	Unclassified	BrainSpLMD|81846	OMIM|607697;HPO|81846|Areflexia, Autosomal recessive inheritance, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Difficulty walking, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Glaucoma, Hammertoe, Heterogeneous, Hyporeflexia, Juvenile onset, Kyphoscoliosis, Onion bulb formation, Pes cavus, Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Split hand, Steppage gait, Talipes equinovarus, Ulnar claw
IN-CTX-MGE1	TCF12	0.893134367	5.65E-05	Transcription factor	BrainSpLMD|6938;BrainSpMouseDev|21167	OMIM|600480;COSMIC||extraskeletal myxoid chondrosarcoma;HPO|6938|Autosomal dominant inheritance, Brachycephaly, Broad forehead, Craniosynostosis, Facial asymmetry, Frontal bossing, Hearing impairment, Increased intracranial pressure, Plagiocephaly, Proptosis, Strabismus, Underdeveloped supraorbital ridges, Visual field defect
IN-CTX-MGE1	COMMD1	0.393028067	6.46E-05	Unclassified	BrainSpLMD|150684	OMIM|607238
IN-CTX-MGE1	MIR124.2HG	0.740079205	6.91E-05			
IN-CTX-MGE1	KIF5B	0.434603467	6.93E-05	Motor protein	BrainSpLMD|3799;Eurexp|euxassay_019750|olfactory	OMIM|602809;COSMIC||NSCLC, Spitzoid tumour
IN-CTX-MGE1	DCLK2	0.829454246	6.98E-05	Serine/threonine kinase	BrainSpLMD|166614;Eurexp|euxassay_009796|associated mesenchyme, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nasal cavity, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613166
IN-CTX-MGE1	NCAM1	0.349956399	7.54E-05	Adhesion molecule	BrainSpLMD|4684;Eurexp|euxassay_014138|bladder, brain, cervical, cervico-thoracic, cortex, dermal component, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, pericardial cavity, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, ureter, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17734	OMIM|116930
IN-CTX-MGE1	LRRC49	0.286016508	8.01E-05	Unclassified	BrainSpLMD|54839	
IN-CTX-MGE1	HNRNPH3	0.523178479	8.85E-05	Ribonucleoprotein	BrainSpLMD|3189;Eurexp|euxassay_013902|ventricular layer	OMIM|602324
IN-CTX-MGE1	NDUFC2	0.263324777	9.38E-05	Enzyme: Oxidoreductase	BrainSpLMD|4718	OMIM|603845
IN-CTX-MGE1	RTN1	0.280177221	9.79E-05	Integral membrane protein	BrainSpLMD|6252;Eurexp|euxassay_003752|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, penis, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|600865
IN-CTX-MGE1	LSM8	0.751483328	0.000102857	RNA binding protein	BrainSpLMD|51691	OMIM|607288
IN-CTX-MGE1	MAPK10	0.848662879	0.000108791	Serine/threonine kinase	BrainSpLMD|5602;Eurexp|euxassay_009977|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|26162	OMIM|602897;HPO|5602|Abnormality of brainstem morphology, Aggressive behavior, Atonic seizures, Atypical absence seizures, Autistic behavior, EEG with focal sharp slow waves, Encephalopathy, Falls, Generalized tonic seizures, Generalized tonic-clonic seizures, Hyperactivity, Intellectual disability, Mental deterioration, Myoclonus, Personality disorder
IN-CTX-MGE1	GRIK3	0.899869483	0.000116075	Extracellular ligand gated channel	BrainSpLMD|2899;BrainSpMouseDev|14583	SFARI||Autism, No category;OMIM|138243
IN-CTX-MGE1	SAP30BP	0.708851938	0.000122227	Transcription regulatory protein	BrainSpLMD|29115;Eurexp|euxassay_003056|submandibular gland primordium	OMIM|610218
IN-CTX-MGE1	NUTF2	0.256171856	0.000125173	Transport/cargo protein	BrainSpLMD|10204;Eurexp|euxassay_015153|basal columns, brain, central nervous system, cerebellum, cerebral cortex, cortex, dermal component, dermis, dorsal root ganglion, drainage component, ear, epidermal component, epithelium, facial VII, floorplate, forebrain, incisor, inner ear, lateral wall, left lung, liver, liver and biliary system, lobe, lower jaw, lung, male, mandible, mantle layer, marginal layer, medullary region, mesenchyme, metanephros, molar, nasal cavity, nervous system, nucleus pulposus, otic capsule, petrous part, physiological umbilical hernia, renal/urinary system, rest of cerebellum, right lung, sublingual gland primordium, submandibular gland primordium, telencephalon, temporal bone, testis, thymus primordium, tooth, trigeminal V, turbinate bones, upper jaw, vagus X, ventricular layer, vibrissa	OMIM|605813
IN-CTX-MGE1	ARMC8	0.318652085	0.000125303	Unclassified	BrainSpLMD|25852	
IN-CTX-MGE1	C11orf31	0.265838116	0.000141966			
IN-CTX-MGE1	TPP2	0.382839924	0.000146068	Aminopeptidase	BrainSpLMD|7174	OMIM|190470;HPO|7174|Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemiparesis, Hepatitis, Lymphadenopathy, Lymphopenia, Moderate global developmental delay, Recurrent otitis media, Respiratory tract infection, Splenomegaly, Stroke, Systemic lupus erythematosus
IN-CTX-MGE1	ATP5J	0.484774384	0.000148801			
IN-CTX-MGE1	THUMPD3	0.413034807	0.000150949	Unclassified	BrainSpLMD|25917;Eurexp|euxassay_000043|chondrocranium, exoccipital bone, facial bones primordia, mandible, optic foramen, otic capsule	
IN-CTX-MGE1	NHP2L1	0.383019061	0.000159672			
IN-CTX-MGE1	ATP6V1F	0.344075495	0.000160285	ATPase	BrainSpLMD|9296;Eurexp|euxassay_005209|dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory lobe, spinal cord, trigeminal V, vagus X	OMIM|607160
IN-CTX-MGE1	NLGN4X	0.256975112	0.000166749	Adhesion molecule;Integral membrane protein	BrainSpLMD|57502	SFARI||Autism, 3 - Suggestive evidence;OMIM|300427;HPO|57502|Autism, Childhood onset, Delayed speech and language development, EEG abnormality, Heterogeneous, Impaired use of nonverbal behaviors, Increased serum serotonin, Inflexible adherence to routines or rituals, Intellectual disability, Lack of peer relationships, Lack of spontaneous play, Multifactorial inheritance, Restrictive behavior, Seizures, Sporadic, Stereotypy, X-linked inheritance
IN-CTX-MGE1	PHF21A	0.265197548	0.000176787	Transcription regulatory protein	BrainSpLMD|51317	OMIM|608325;HPO|51317|Brachycephaly, Broad nasal tip, Decreased skull ossification, Depressed nasal tip, Downturned corners of mouth, Epicanthus, Exostoses, Global developmental delay, Micrognathia, Micropenis, Nystagmus, Parietal foramina, Prominent nasal bridge, Seizures, Short philtrum, Strabismus, Underdeveloped nasal alae
IN-CTX-MGE1	HERC2P9	0.259178274	0.000181743			
IN-CTX-MGE1	ZCCHC17	0.286024222	0.000188582	RNA binding protein	BrainSpLMD|51538	
IN-CTX-MGE1	SEPT7P6	1.12699859	0.000190918			
IN-CTX-MGE1	HNRNPA1P35	0.534831388	0.000196155			
IN-CTX-MGE1	DYNLRB1	0.537107405	0.000201128	Unclassified;Transport/cargo protein	BrainSpLMD|83658;Eurexp|euxassay_002535|dorsal root ganglion	OMIM|607167
IN-CTX-MGE1	ATAD5	0.645048365	0.000216795	DNA repair protein	BrainSpLMD|79915;Eurexp|euxassay_013782|cortex, liver, metanephros, ventricular layer	OMIM|609534
IN-CTX-MGE1	APC	0.413136444	0.000222582	Adhesion molecule	BrainSpLMD|324;Eurexp|euxassay_007660|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|11576	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611731;COSMIC||colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS, colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS;HPO|324|Abdominal pain, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Adenomatous colonic polyposis, Adrenocortical carcinoma, Astrocytoma, Autosomal dominant inheritance, Colon cancer, Desmoid tumors, Epidermoid cyst, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hyperpigmentation of the skin, Intestinal polyposis, Keloids, Malabsorption, Micronodular cirrhosis, Multiple gastric polyps, Multiple lipomas, Myalgia, Neoplasm of the stomach, Odontoma, Renal cell carcinoma, Small intestine carcinoid, Somatic mutation, Stomach cancer, Subacute progressive viral hepatitis, Subcutaneous nodule, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Variable expressivity
IN-CTX-MGE1	BTBD7	0.702943993	0.000228042	Unclassified;Transcription factor	BrainSpLMD|55727	OMIM|610386
IN-CTX-MGE1	GABARAPL2	0.292032475	0.000237176	Transport/cargo protein	BrainSpLMD|11345	OMIM|607452
IN-CTX-MGE1	GRIP1	0.957519715	0.000250895	-	Eurexp|euxassay_013281|neural retina	SFARI||Autism, 2 - Strong candidate;OMIM|604597;HPO|23426|Abnormal cortical gyration, Abnormal heart morphology, Abnormality of the anus, Abnormality of the pinna, Abnormality of the small intestine, Abnormality of the thymus, Abnormality of the umbilicus, Absent eyebrow, Absent eyelashes, Ambiguous genitalia, Anal atresia, Anal stenosis, Anophthalmia, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb, Atresia of the external auditory canal, Autosomal recessive inheritance, Bicornuate uterus, Bifid tongue, Bilateral microphthalmos, Blindness, Calvarial skull defect, Choanal stenosis, Cleft ala nasi, Cleft palate, Cleft upper lip, Clitoral hypertrophy, Conductive hearing impairment, Corneal opacity, Cryptophthalmos, Cryptorchidism, Cupped ear, Cutaneous finger syndactyly, Dental crowding, Dental malocclusion, Depressed nasal bridge, Difficulty in tongue movements, Encephalocele, Extension of hair growth on temples to lateral eyebrow, External ear malformation, Facial cleft, Female pseudohermaphroditism, Finger syndactyly, Hydrocephalus, Hypertelorism, Hypoplasia of penis, Hypoplastic superior helix, Hypospadias, Intellectual disability, Lacrimal duct aplasia, Laryngeal atresia, Laryngeal stenosis, Laryngeal web, Low-set ears, Low-set, posteriorly rotated ears, Malformed lacrimal ducts, Microcephaly, Micropenis, Microphthalmia, Midline nasal groove, Morphological abnormality of the middle ear, Multicystic kidney dysplasia, Myelomeningocele, Pulmonary hypoplasia, Renal hypoplasia, Renal hypoplasia/aplasia, Scrotal hypoplasia, Severe T-cell immunodeficiency, Subglottic stenosis, Toe syndactyly, Underdeveloped nasal alae, Upper eyelid coloboma, Vaginal atresia, Wide intermamillary distance, Wide nasal bridge, Wide nose, Wide pubic symphysis
IN-CTX-MGE1	RAB10	0.436261461	0.000258333	GTPase	BrainSpLMD|10890;Eurexp|euxassay_008412|embryo	OMIM|612672
IN-CTX-MGE1	ZNF618	0.88418624	0.000269363	Unclassified	BrainSpLMD|114991	OMIM|617077
IN-CTX-MGE1	BUD31	0.66880478	0.000270018	Transcription regulatory protein	BrainSpLMD|8896	OMIM|603477
IN-CTX-MGE1	UBXN4	0.300175516	0.000281182	Unclassified	BrainSpLMD|23190;Eurexp|euxassay_008244|embryo	OMIM|611216
IN-CTX-MGE1	TRMT10C	0.625599878	0.000291693	RNA methyltransferase	BrainSpLMD|54931;Eurexp|euxassay_006517|calyces, dermis, epidermis, hyoid bone, incisor, lung, mantle layer, marginal layer, molar, phalanx, submandibular gland primordium, tegmentum, temporal bone, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|615423;HPO|54931|Autosomal recessive inheritance, Congenital onset, Decreased liver function, Elevated hepatic transaminases, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Hyperalaninemia, Increased CSF lactate, Increased serum lactate, Lactic acidosis
IN-CTX-MGE1	UBXN1	0.300613495	0.000299855	Ubiquitin proteasome system protein	BrainSpLMD|51035	OMIM|616378
IN-CTX-MGE1	ZNF451	0.31904699	0.00030927	Transcription regulatory protein	BrainSpLMD|26036;Eurexp|euxassay_000068|excretory component, physiological umbilical hernia, testis, ventricular layer	OMIM|615708
IN-CTX-MGE1	IRF2BPL	0.472573038	0.000310097	Unclassified	BrainSpLMD|64207	SFARI||Autism, 2 - Strong candidate;OMIM|611720
IN-CTX-MGE1	ZNF704	0.46406436	0.00033525	Unclassified		
IN-CTX-MGE1	VMA21	0.319252949	0.000336037	Unclassified		OMIM|300913;HPO|203547|Difficulty climbing stairs, Difficulty running, Elevated serum creatine phosphokinase, Gowers sign, Incomplete penetrance, Myopathy, Myotonia, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Slow progression, X-linked recessive inheritance
IN-CTX-MGE1	PSMB1	0.308675729	0.000347022	Ubiquitin proteasome system protein	BrainSpLMD|5689;Eurexp|euxassay_000097|cerebral cortex, dorsal root ganglion, integumental system, midbrain, nose, retina, rib, trigeminal V, vagus X	OMIM|602017
IN-CTX-MGE1	PARP2	0.402593003	0.000357906	DNA binding protein;Enzyme: Ribosyltransferase	BrainSpLMD|10038	OMIM|607725
IN-CTX-MGE1	RP11.278C7.1	0.341889675	0.000372342			
IN-CTX-MGE1	TNRC6B	0.423066655	0.00037957	Unclassified	BrainSpLMD|23112	SFARI||Autism, 2 - Strong candidate;OMIM|610740
IN-CTX-MGE1	FBXO21	0.565759957	0.000387465	Ubiquitin proteasome system protein	BrainSpLMD|23014;Eurexp|euxassay_006858|cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|609095
IN-CTX-MGE1	SSR2	0.471784336	0.000389329	Transport/cargo protein	BrainSpLMD|6746;Eurexp|euxassay_002335|cranium, orbito-sphenoid	OMIM|600867
IN-CTX-MGE1	PHPT1	0.402065686	0.000400153	Enzyme: Phosphatase	BrainSpLMD|29085	OMIM|610167
IN-CTX-MGE1	HELZ	0.488241937	0.000420159	RNA helicase	BrainSpLMD|9931	OMIM|606699
IN-CTX-MGE1	CCDC174	0.602788243	0.000442917	Unclassified	BrainSpLMD|51244	OMIM|616735;HPO|51244|Autosomal recessive inheritance, Cryptorchidism, Decreased fetal movement, Delayed speech and language development, Dilation of lateral ventricles, Global developmental delay, Hypoplasia of the corpus callosum, Long face, Myopathic facies, Myopathy, Neonatal hypotonia, Open mouth, Respiratory insufficiency due to muscle weakness, Severe muscular hypotonia, Strabismus, Ventricular septal defect
IN-CTX-MGE1	SLITRK1	1.239877268	0.000476593	Integral membrane protein	BrainSpLMD|114798;Eurexp|euxassay_012158|axial skeleton, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, rib, skeletal muscle, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|52805	OMIM|609678;HPO|114798|Aggressive behavior, Alopecia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Echolalia, Hair-pulling, Motor tics, Multifactorial inheritance, Obsessive-compulsive behavior, Phonic tics, Self-mutilation, Sleep disturbance
IN-CTX-MGE1	PPP2CA	0.409651084	0.000478599	Serine/threonine phosphatase	BrainSpLMD|5515	OMIM|176915
IN-CTX-MGE1	LSM14A	0.253171275	0.000481966	Unclassified	BrainSpLMD|26065	OMIM|610677;COSMIC||Spitzoid tumour
IN-CTX-MGE1	APPBP2	0.621759041	0.000500347	Adapter molecule	BrainSpLMD|10513	OMIM|605324
IN-CTX-MGE1	KIFAP3	0.262800428	0.000509177	Transport/cargo protein	BrainSpLMD|22920;Eurexp|euxassay_012381|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, mesenchyme, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601836
IN-CTX-MGE1	LRRC8B	1.024383117	0.000511745	Integral membrane protein	BrainSpLMD|23507	OMIM|612888
IN-CTX-MGE1	TMEM181	1.121415699	0.000523396	Unclassified		OMIM|613209
IN-CTX-MGE1	MSRA	0.7191786	0.000545323	Enzyme: Reductase	BrainSpLMD|4482	OMIM|601250
IN-CTX-MGE1	PPP2R3A	0.413437422	0.0005551	Serine/threonine phosphatase;Regulatory/other subunit	BrainSpLMD|5523;Eurexp|euxassay_012481|skeletal muscle, ventricle, vertebral axis muscle system	OMIM|604944
IN-CTX-MGE1	CUX2	0.511458939	0.000591934	Transcription factor	BrainSpMouseDev|12829	OMIM|610648
IN-CTX-MGE1	CHML	0.812641591	0.000594212	Enzyme: Prenyltransferase	BrainSpLMD|1122;Eurexp|euxassay_012178|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	OMIM|118825
IN-CTX-MGE1	CLINT1	0.555918765	0.000596521	Transport/cargo protein	BrainSpLMD|9685;Eurexp|euxassay_011314|basioccipital bone, basisphenoid bone, clavicle, cortex, cricoid, liver, mandible, maxilla, midgut, naris, orbito-sphenoid, otic capsule, petrous part, rectum, rib, sternum, sublingual gland primordium, submandibular gland primordium, temporal bone, thyroid, turbinate bones, valve, vault of skull	OMIM|607265
IN-CTX-MGE1	LINC01122	1.028330598	0.000604413			
IN-CTX-MGE1	PTBP3	0.827781546	0.000618645	RNA binding protein	BrainSpLMD|9991;Eurexp|euxassay_001898|cortex, liver, lobe, olfactory, pelvis, thymus primordium, trigeminal V, vibrissa	OMIM|607527
IN-CTX-MGE1	KIAA0586	1.107599432	0.00062371	Unclassified	BrainSpLMD|9786	OMIM|610178;HPO|9786|Abnormality of eye movement, Abnormality of the pinna, Anencephaly, Aplastic clavicles, Apnea, Ataxia, Atrial septal defect, Autosomal recessive inheritance, Biparietal narrowing, Cerebellar vermis hypoplasia, Cleft palate, Congenital diaphragmatic hernia, Depressed nasal bridge, Episodic tachypnea, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Hydrocephalus, Hyporeflexia, Intellectual disability, Long face, Low-set ears, Micromelia, Micropenis, Molar tooth sign on MRI, Muscular hypotonia, Narrow chest, Nystagmus, Oculomotor apraxia, Polyhydramnios, Polymicrogyria, Postaxial polydactyly, Preaxial polydactyly, Pulmonary hypoplasia, Retinal coloboma, Short neck, Short ribs, Tachypnea
IN-CTX-MGE1	NCOA2	1.072930684	0.000681976	Transcription regulatory protein	BrainSpLMD|10499;Eurexp|euxassay_010514|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V;BrainSpMouseDev|17745	OMIM|601993;COSMIC||AML, chondrosarcoma, rhabdomyosarcoma
IN-CTX-MGE1	RBBP4P1	0.652575039	0.000736875			
IN-CTX-MGE1	TTC3	0.419027276	0.000748477	Unclassified	BrainSpLMD|7267	OMIM|602259
IN-CTX-MGE1	PAFAH1B2	0.26909986	0.00077835	Enzyme: Hydrolase	BrainSpLMD|5049;Eurexp|euxassay_003490|embryo	OMIM|602508;COSMIC||MLCLS
IN-CTX-MGE1	ROBO1	0.561043117	0.000785646	Adhesion molecule	BrainSpLMD|6091;Eurexp|euxassay_009691|adrenal gland, extrinsic ocular muscle, incisor, lip, mandible, mantle layer, metanephros, metatarsus, midgut, molar, nasal septum, palatal shelf, penis, phalanx, tarsus, turbinate bones, ventral grey horn, vibrissa;BrainSpMouseDev|19639	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602430
IN-CTX-MGE1	SFXN1	0.305490663	0.000795577	Transport/cargo protein	BrainSpLMD|94081;Eurexp|euxassay_006928|embryo	OMIM|615569
IN-CTX-MGE1	PRDX2	0.298667562	0.000819294	Enzyme: Peroxidase	BrainSpLMD|7001;Eurexp|euxassay_006304|embryo	OMIM|600538
IN-CTX-MGE1	CAMLG	0.259644346	0.000822862	Membrane bound ligand	BrainSpLMD|819;Eurexp|euxassay_001896|dorsal root ganglion, trigeminal V	OMIM|601118
IN-CTX-MGE1	CCT6P1	0.290686193	0.000850939			
IN-CTX-MGE1	ZNF891	0.254463842	0.000857524			
IN-CTX-MGE1	SS18	0.575212673	0.000884089	Transcription regulatory protein	BrainSpLMD|6760	OMIM|600192;COSMIC||synovial sarcoma
IN-CTX-MGE1	NBPF12	0.310476334	0.000884437			OMIM|608607
IN-CTX-MGE1	NDN	0.554647436	0.000914942	DNA binding protein	BrainSpLMD|4692;Eurexp|euxassay_018587|clavicle, epithelium, floor plate, floorplate, lens, mandible, oesophagus, orbito-sphenoid	OMIM|602117;HPO|4692|Abdominal obesity, Almond-shaped palpebral fissure, Attention deficit hyperactivity disorder, Clinodactyly, Clitoral hypoplasia, Cutaneous photosensitivity, Decreased fetal movement, Decreased muscle mass, Delayed puberty, Delayed speech and language development, Dolichocephaly, Downturned corners of mouth, Failure to thrive in infancy, Generalized hypopigmentation, Generalized hypotonia, Global developmental delay, Growth hormone deficiency, Hyperinsulinemia, Hypermetropia, Hypogonadotrophic hypogonadism, Hypoplastic labia minora, Hypoventilation, Impaired pain sensation, Infertility, Kyphosis, Micropenis, Motor delay, Narrow forehead, Narrow nasal bridge, Narrow palm, Nasal speech, Obesity, Oligomenorrhea, Polyphagia, Poor gross motor coordination, Poor suck, Recurrent respiratory infections, Scoliosis, Short foot, Short palm, Short stature, Sleep apnea, Small hand, Specific learning disability, Sporadic, Thin upper lip vermilion, Ventriculomegaly
IN-CTX-MGE1	G3BP2	0.283538059	0.000919208	Unclassified	BrainSpLMD|9908	
IN-CTX-MGE1	NCBP2	0.439948175	0.000920125	RNA binding protein	BrainSpLMD|22916;Eurexp|euxassay_008123|embryo	OMIM|605133
IN-CTX-MGE1	ANKRD11	0.29355528	0.000977114	Transcription regulatory protein	BrainSpLMD|29123	SFARI||Autism, 2 - Strong candidate;OMIM|611192;HPO|29123|Anteverted nares, Autism, Autosomal dominant inheritance, Cervical ribs, Clinodactyly, Colpocephaly, Cryptorchidism, Delayed skeletal maturation, Frontal bossing, Global developmental delay, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Intellectual disability, moderate, Long palpebral fissure, Long philtrum, Low anterior hairline, Low posterior hairline, Macrodontia, Macrotia, Microcephaly, Micrognathia, Oligodontia, Optic nerve hypoplasia, Periventricular gray matter heterotopia, Pointed chin, Protruding ear, Radial deviation of finger, Rib fusion, Round face, Seizures, Short stature, Single transverse palmar crease, Smooth philtrum, Syndactyly, Telecanthus, Thick eyebrow, Thoracic kyphosis, Triangular face, Underdeveloped nasal alae, Ventriculomegaly, Vertebral arch anomaly, Vertebral fusion, Wide mouth, Widely-spaced maxillary central incisors
IN-CTX-MGE1	MYL12B	0.259834516	0.001020322	Cytoskeletal protein		OMIM|609211
IN-CTX-MGE1	FARP1	0.61892347	0.001031121	Guanine nucleotide exchange factor	BrainSpLMD|10160	OMIM|602654
IN-CTX-MGE1	LRRTM2	0.42356609	0.001040506	Integral membrane protein	BrainSpLMD|26045	OMIM|610868
IN-CTX-MGE1	PFDN1	0.316114491	0.00104754	Chaperone	BrainSpLMD|5201	OMIM|604897
IN-CTX-MGE1	CASP2	0.294844221	0.00106692	Cysteine protease	BrainSpLMD|835	OMIM|600639
IN-CTX-MGE1	SYF2	0.660627041	0.001118258	Unclassified	BrainSpLMD|25949	OMIM|607090
IN-CTX-MGE1	SNTG1	0.737570514	0.001161528	Adapter molecule	BrainSpLMD|54212	OMIM|608714
IN-CTX-MGE1	KIAA1033	0.505705684	0.001168865			
IN-CTX-MGE1	KLF12	0.981470509	0.001219682	Transcription regulatory protein	BrainSpLMD|11278	OMIM|607531
IN-CTX-MGE1	RP11.673C5.1	0.309662893	0.001232243			
IN-CTX-MGE1	ATXN7L3B	0.417143194	0.001285231	-	BrainSpLMD|552889	OMIM|615579
IN-CTX-MGE1	TXN	0.516924633	0.00130031	Enzyme: Reductase	Eurexp|euxassay_000861|basal plate, skeleton, submandibular gland primordium	OMIM|187700
IN-CTX-MGE1	COX7B	0.623306187	0.001312823	Enzyme: Oxidase	BrainSpLMD|1349	OMIM|300885;HPO|1349|Abnormal facial shape, Abnormality of retinal pigmentation, Abnormality of the cardiac septa, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Anophthalmia, Aplasia cutis congenita, Arrhythmia, Congenital diaphragmatic hernia, Dermal atrophy, Dilated cardiomyopathy, Erythema, Global developmental delay, Hyperpigmentation of the skin, Hypertelorism, Hypertrophic cardiomyopathy, Hypopigmented skin patches, Mandibular aplasia, Microcephaly, Micrognathia, Microphthalmia, Midface retrusion, Retrognathia, Sclerocornea, Severe short stature, Short chin, Short stature, Vitritis, Wide nasal bridge, Wide nose, X-linked dominant inheritance
IN-CTX-MGE1	JAKMIP2	0.757946748	0.001376199	Unclassified	BrainSpLMD|9832	OMIM|611197
IN-CTX-MGE1	SCG3	0.364867789	0.001380063	Secreted polypeptide	BrainSpLMD|29106;Eurexp|euxassay_015685|adrenal gland, autonomic, basal columns, bladder, brain, central nervous system, cerebellum, cerebral cortex, cervical, cervico-thoracic, cranial, diencephalon, dorsal root ganglion, facial VII, forebrain, ganglion, glossopharyngeal IX, gut, heart, hindbrain, intraventricular portion, lateral wall, left lung, lung, mantle layer, marginal layer, maxillary division, medulla, metanephros, midbrain, nerve plexus, neural retina, renal/urinary system, retina, spinal, spinal cord, stomach, sympathetic, telencephalon, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20018	OMIM|611796
IN-CTX-MGE1	SMEK1	0.290814274	0.001380942			
IN-CTX-MGE1	POLR2B	0.572259784	0.001460263	RNA polymerase	BrainSpLMD|5431;Eurexp|euxassay_019551|incisor, liver, lung, metanephros, midgut, molar, neural retina, olfactory, pancreas, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|87230	OMIM|180661
IN-CTX-MGE1	AKR1C1	0.833396717	0.001558169	Enzyme: Reductase	BrainSpLMD|1645	OMIM|600449
IN-CTX-MGE1	RFC1	0.311290762	0.001619605	DNA binding protein	BrainSpLMD|5981	OMIM|102579
IN-CTX-MGE1	ATP5F1	0.266145679	0.001619627			
IN-CTX-MGE1	GAS2L3	0.32589848	0.001643182	Cytoskeletal protein	BrainSpLMD|283431	OMIM|617224
IN-CTX-MGE1	CHD8	0.897508867	0.001694797	DNA helicase		SFARI||Autism, 1 - High confidence;OMIM|610528
IN-CTX-MGE1	TET2	0.670218951	0.001772761	Unclassified	BrainSpLMD|54790	SFARI||Autism, No category;OMIM|612839;COSMIC||MDS;HPO|54790|Abdominal pain, Abnormal platelet morphology, Acute leukemia, Amaurosis fugax, Angina pectoris, Arterial thrombosis, Arthralgia, Bruising susceptibility, Chest pain, Epistaxis, Fatigue, Gingival bleeding, Headache, Hepatomegaly, Increased megakaryocyte count, Myelodysplasia, Myelofibrosis, Myocardial infarction, Paresthesia, Prolonged bleeding time, Respiratory insufficiency, Somatic mutation, Splenomegaly, Tinnitus, Transient ischemic attack, Venous thrombosis, Vertigo, Weight loss
IN-CTX-MGE1	GOLGA7	0.518847997	0.001824824	Integral membrane protein	BrainSpLMD|51125	OMIM|609453
IN-CTX-MGE1	GNPTAB	0.432801264	0.001826112	Calcium binding protein	BrainSpLMD|79158	OMIM|607840;HPO|79158|Abnormality of nervous system morphology, Abnormality of the rib cage, Abnormality of the thorax, Anteverted nares, Aortic regurgitation, Atlantoaxial dislocation, Autosomal recessive inheritance, Beaking of vertebral bodies T12-L3, Broad ribs, Bullet-shaped phalanges of the hand, Cardiomegaly, Carpal bone hypoplasia, Cavernous hemangioma, Coarse facial features, Congestive heart failure, Constrictive median neuropathy, Corneal erosion, Craniosynostosis, Death in childhood, Deficiency of N-acetylglucosamine-1-phosphotransferase, Depressed nasal bridge, Diastasis recti, Dysostosis multiplex, Epicanthus, Failure to thrive, Flared iliac wings, Flat acetabular roof, Generalized hirsutism, Heart murmur, Hepatomegaly, Hernia, High forehead, Hip dislocation, Hoarse voice, Hyperopic astigmatism, Hypertrophic cardiomyopathy, Hypoplasia of the odontoid process, Hypoplastic scapulae, Increased serum beta-hexosaminidase, Increased serum iduronate sulfatase activity, Inguinal hernia, Intellectual disability, Irregular carpal bones, J-shaped sella turcica, Lack of skin elasticity, Large sella turcica, Long philtrum, Lower thoracic interpediculate narrowness, Macroglossia, Mandibular prognathia, Megalocornea, Metaphyseal widening, Mucopolysacchariduria, Myelopathy, Narrow forehead, Neonatal hypotonia, Opacification of the corneal stroma, Osteopenia, Ovoid vertebral bodies, Palpebral edema, Pathologic fracture, Progressive alveolar ridge hypertropy, Protuberant abdomen, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia, Retinal degeneration, Scoliosis, Severe global developmental delay, Severe postnatal growth retardation, Shallow acetabular fossae, Short long bone, Short ribs, Short stature, Soft tissue swelling of interphalangeal joints, Sparse and thin eyebrow, Specific learning disability, Splenomegaly, Split hand, Talipes equinovarus, Thickened calvaria, Thickened skin, Thin skin, Thoracolumbar kyphoscoliosis, Umbilical hernia, Varus deformity of humeral neck, Wide intermamillary distance
IN-CTX-MGE1	FBXL5	0.31604974	0.001880903	Ubiquitin proteasome system protein	BrainSpLMD|26234	OMIM|605655
IN-CTX-MGE1	TCEAL4	0.659102655	0.001946343	Unclassified	BrainSpLMD|79921	
IN-CTX-MGE1	HNRNPK	0.338370173	0.001976565	Ribonucleoprotein	BrainSpLMD|3190	OMIM|600712;HPO|3190|Autosomal dominant inheritance, Constipation, Craniosynostosis, Cryptorchidism, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Feeding difficulties, Generalized hypotonia, Global developmental delay, High palate, Hip dysplasia, Intellectual disability, Inverted nipples, Long face, Long palpebral fissure, Microtia, Oligodontia, Open mouth, Overlapping toe, Pectus excavatum, Poor speech, Postaxial polydactyly, Ptosis, Sacral dimple, Scoliosis, Sparse lateral eyebrow, Thickened nuchal skin fold, Underdeveloped nasal alae, Wide intermamillary distance, Wide nasal ridge
IN-CTX-MGE1	MAPK6	0.388565812	0.001998983	Serine/threonine kinase	BrainSpLMD|5597	OMIM|602904
IN-CTX-MGE1	RPS3AP5	0.28060542	0.002005698			
IN-CTX-MGE1	PSMB7	0.344580712	0.002010208	Ubiquitin proteasome system protein	BrainSpLMD|5695	OMIM|604030
IN-CTX-MGE1	7-Sep	0.481399497	0.002097268			
IN-CTX-MGE1	JAZF1	0.754308182	0.002118856	DNA binding protein	BrainSpLMD|221895;Eurexp|euxassay_014387|mantle layer, ventral grey horn;BrainSpMouseDev|87350	OMIM|606246;COSMIC||endometrial stromal tumour
IN-CTX-MGE1	TARS	0.653580866	0.002119361	Enzyme: Ligase	BrainSpLMD|6897;Eurexp|euxassay_006234|cortex, left, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|187790
IN-CTX-MGE1	SOX12	0.633785507	0.002153668	Transcription factor	BrainSpLMD|6666;Eurexp|euxassay_019555|facial VII, glossopharyngeal IX, neural retina, trigeminal V;BrainSpMouseDev|20429	OMIM|601947
IN-CTX-MGE1	DNTTIP2	0.343789625	0.002323691	DNA binding protein	BrainSpLMD|30836	OMIM|611199
IN-CTX-MGE1	NRCAM	0.338825735	0.0023405	Adhesion molecule	BrainSpLMD|4897;BrainSpMouseDev|106439	SFARI||Autism, 4 - Minimal evidence;OMIM|601581
IN-CTX-MGE1	PDCD5	0.275070745	0.002362532	Unclassified	BrainSpLMD|9141	OMIM|604583
IN-CTX-MGE1	RAD1	0.280988515	0.002431472	DNA exonuclease	BrainSpLMD|5810;Eurexp|euxassay_012280|ventricular layer	OMIM|603153
IN-CTX-MGE1	SH3GLB1	0.793276546	0.002475078	Enzyme: Acyltransferase	BrainSpLMD|51100	OMIM|609287
IN-CTX-MGE1	CSNK2A1	0.434317661	0.002519103	Serine/threonine kinase	BrainSpLMD|1457;BrainSpMouseDev|12778	OMIM|115440;HPO|1457|Anteverted nares, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Brachydactyly, Clinodactyly, Constipation, Cortical gyral simplification, Delayed speech and language development, Epicanthus, Feeding difficulties, Generalized hypotonia, Global developmental delay, High palate, Highly arched eyebrow, Hypertelorism, IgA deficiency, IgG deficiency, Intellectual disability, Low-set ears, Microcephaly, Micrognathia, Phenotypic variability, Ptosis, Synophrys, Thin upper lip vermilion, Wide nasal bridge
IN-CTX-MGE1	CTB.79E8.3	0.570197027	0.002551052			
IN-CTX-MGE1	HNRNPA3	0.313644941	0.002568951	Ribonucleoprotein		OMIM|605372
IN-CTX-MGE1	IFT52	0.294006641	0.002643445	Unclassified	BrainSpLMD|51098	OMIM|617094;HPO|51098|Abnormal diaphysis morphology, Abnormal toenail morphology, Abnormality of the fingernails, Abnormality of the metaphysis, Anteverted nares, Autosomal recessive inheritance, Brachydactyly, Carious teeth, Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Depressed nasal bridge, Dolichocephaly, Epicanthus, Everted lower lip vermilion, Finger syndactyly, Flat acetabular roof, Frontal bossing, Full cheeks, High forehead, Hypermetropia, Hypodontia, Hypoplasia of the corpus callosum, Hypotelorism, Joint hyperflexibility, Limb undergrowth, Low-set ears, Microdontia, Midface retrusion, Motor delay, Narrow chest, Osteoporosis, Pectus excavatum, Prominent occiput, Respiratory distress, Rhizomelia, Sandal gap, Short distal phalanx of finger, Short metacarpal, Short metatarsal, Short stature, Sparse hair, Telecanthus, Wide nasal bridge
IN-CTX-MGE1	ZYG11B	0.33268009	0.002701646	Unclassified	BrainSpLMD|79699	
IN-CTX-MGE1	CRB1	0.642629027	0.002814416	Unclassified	BrainSpLMD|23418	OMIM|604210;HPO|23418|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Encephalocele, Esotropia, Glaucoma, Hemiplegia/hemiparesis, High-grade hypermetropia, Hyperinsulinemia, Hypermetropia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Muscular hypotonia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paravenous chorioretinal atrophy, Pendular nystagmus, Photophobia, Progressive night blindness, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe visual impairment, Undetectable electroretinogram, Visual impairment, Vitreoretinal degeneration, Wide nasal bridge
IN-CTX-MGE1	ARRDC3	0.509713946	0.00284328	Unclassified	BrainSpLMD|57561	OMIM|612464
IN-CTX-MGE1	EP400	0.259473562	0.002897201	DNA binding protein	BrainSpLMD|57634	SFARI||Autism, 3 - Suggestive evidence;OMIM|606265
IN-CTX-MGE1	ACTR1A	0.326882843	0.002902936	Cytoskeletal protein	BrainSpLMD|10121;Eurexp|euxassay_006567|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605143
IN-CTX-MGE1	FBXW2	0.395037644	0.002931382	Ubiquitin proteasome system protein	BrainSpLMD|26190	OMIM|609071
IN-CTX-MGE1	KAT6A	0.274752371	0.003001016	Enzyme: Acyltransferase	BrainSpLMD|7994	SFARI||Autism, 3 - Suggestive evidence;OMIM|601408;COSMIC||AML;HPO|7994|Abnormality of the dentition, Atrial septal defect, Autosomal dominant inheritance, Broad nasal tip, Cortical visual impairment, Craniosynostosis, Downturned corners of mouth, Epicanthus, Feeding difficulties, Global developmental delay, Intellectual disability, Low-set ears, Microcephaly, Microretrognathia, Muscular hypotonia, Narrow forehead, Neonatal hypotonia, Neonatal respiratory distress, Patent ductus arteriosus, Plagiocephaly, Posteriorly rotated ears, Prominent nasal bridge, Ptosis, Respiratory distress, Strabismus, Thin upper lip vermilion, Ventricular septal defect
IN-CTX-MGE1	SHPRH	0.302168574	0.003011628	Transcription regulatory protein	BrainSpLMD|257218	OMIM|608048
IN-CTX-MGE1	VPS28	0.503138691	0.003031549	Transport/cargo protein	BrainSpLMD|51160	OMIM|611952
IN-CTX-MGE1	TXNL1	0.341260529	0.00305394	Enzyme: Oxidoreductase	BrainSpLMD|9352	OMIM|603049
IN-CTX-MGE1	APBB2	0.516178027	0.003072672	Adapter molecule	BrainSpLMD|323;Eurexp|euxassay_007659|corpus striatum, mantle layer, nasal septum, neural retina, turbinate bones, ventral grey horn	OMIM|602710
IN-CTX-MGE1	H3F3B	0.258748299	0.003135862	DNA binding protein	BrainSpLMD|3021;Eurexp|euxassay_005704|embryo	OMIM|601058;COSMIC||chondroblastoma
IN-CTX-MGE1	EFTUD2	0.411549236	0.003144971	Unclassified	BrainSpLMD|9343	OMIM|603892;HPO|9343|Abnormality of the antihelix, Absent tragus, Accessory oral frenulum, Anteverted nares, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Choanal atresia, Cleft palate, Conductive hearing impairment, Deep philtrum, Delayed speech and language development, Downslanted palpebral fissures, Epicanthus, Feeding difficulties, Feeding difficulties in infancy, Global developmental delay, Hypoplasia of the maxilla, Intellectual disability, Large earlobe, Low-set ears, Malar flattening, Mandibulofacial dysostosis, Microcephaly, Micrognathia, Microtia, Midface retrusion, Morphological abnormality of the middle ear, Overfolded helix, Postnatal microcephaly, Preauricular skin tag, Preaxial hand polydactyly, Progressive microcephaly, Respiratory distress, Short nose, Short stature, Slender finger, Telecanthus, Trigonocephaly, Underdeveloped tragus, Upslanted palpebral fissure
IN-CTX-MGE1	RASAL2	0.655462744	0.003189424	GTPase	BrainSpLMD|9462;Eurexp|euxassay_014140|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, trigeminal V, turbinate bones, vagus X, ventricular layer, vomeronasal organ	OMIM|606136
IN-CTX-MGE1	PSMB4	0.305825382	0.003202135	Ubiquitin proteasome system protein	BrainSpLMD|5692	OMIM|602177
IN-CTX-MGE1	TPM4	0.339572392	0.003368447	Cytoskeletal protein		OMIM|600317;COSMIC||ALCL
IN-CTX-MGE1	ZNF638	0.291670096	0.003382006	DNA binding protein	BrainSpLMD|27332	OMIM|614349
IN-CTX-MGE1	CTTN	0.32980303	0.003629557	Cytoskeletal associated protein	BrainSpLMD|2017	OMIM|164765
IN-CTX-MGE1	ST8SIA4	1.035349966	0.003636143	Enzyme: Sialyltransferase	BrainSpLMD|7903;Eurexp|euxassay_007776|brain, dorsal root ganglion, left lung, mesenchyme, neural retina, olfactory, organ system, right lung, spinal cord, trigeminal V	OMIM|602547
IN-CTX-MGE1	PCGF3	0.804487181	0.003639562	Ubiquitin proteasome system protein	BrainSpLMD|10336	OMIM|617543
IN-CTX-MGE1	SNX6	0.391385767	0.003644063	Transport/cargo protein	BrainSpLMD|58533	OMIM|606098
IN-CTX-MGE1	ANKRD12	0.625428869	0.003648492	Unclassified	BrainSpLMD|23253	OMIM|610616
IN-CTX-MGE1	BCCIP	0.318025335	0.003684518	Cell cycle control protein	BrainSpLMD|56647;Eurexp|euxassay_006212|axial muscle, cortex, orbito-sphenoid, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|611883
IN-CTX-MGE1	ZMYM5	0.586443355	0.003691541	Unclassified	BrainSpLMD|9205	OMIM|616443
IN-CTX-MGE1	SLIRP	0.328880497	0.003708332	RNA binding protein	BrainSpLMD|81892	OMIM|610211
IN-CTX-MGE1	DAP3	0.250208698	0.003737625	Ribosomal subunit	BrainSpLMD|7818	OMIM|602074
IN-CTX-MGE1	METAP2	0.275552961	0.003749123	Translation regulatory protein	BrainSpLMD|10988	OMIM|601870
IN-CTX-MGE1	GNG2	0.626824836	0.003779489	G protein	BrainSpLMD|54331;Eurexp|euxassay_003975|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606981
IN-CTX-MGE1	CTCF	0.369379022	0.003785993	Transcription regulatory protein	BrainSpLMD|10664	SFARI||Autism, 3 - Suggestive evidence;OMIM|604167;COSMIC||endometrial, breast, head and neck cancer, Mental retardation, autosomal dominant 21;HPO|10664|Abnormality of the dentition, Autosomal dominant inheritance, Cryptorchidism, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hypermetropia, Intellectual disability, Microcephaly, Short stature, Strabismus, Thin vermilion border
IN-CTX-MGE1	CERK	0.679059645	0.00381338	Lipid Kinase	BrainSpLMD|64781;Eurexp|euxassay_018568|dorsal root ganglion, glossopharyngeal IX, trigeminal V;BrainSpMouseDev|85972	OMIM|610307
IN-CTX-MGE1	MPHOSPH10	0.49194775	0.003821934	RNA binding protein	BrainSpLMD|10199;Eurexp|euxassay_007261|left lung, oesophagus, pituitary, right lung, urethra, vertebral axis muscle system	OMIM|605503
IN-CTX-MGE1	AP3M1	0.267206531	0.003877063	Transport/cargo protein	BrainSpLMD|26985	OMIM|610366
IN-CTX-MGE1	NHLRC2	0.317268773	0.003916199	Unclassified	BrainSpLMD|374354;Eurexp|euxassay_000151|incisor, inferior, oculomotor III, olfactory I, optic II, trigeminal V, vagus X, valve, ventricular layer	
IN-CTX-MGE1	ZBTB21	0.521825425	0.003918727	Transcription regulatory protein	BrainSpLMD|49854	OMIM|616485
IN-CTX-MGE1	HNRNPA1L2	0.251482157	0.003919451	RNA binding protein		
IN-CTX-MGE1	RNF4	0.549897178	0.003969181	Transcription regulatory protein	BrainSpLMD|6047	OMIM|602850
IN-CTX-MGE1	SNRPF	0.346306583	0.003974475	Ribonucleoprotein	BrainSpLMD|6636	OMIM|603541
IN-CTX-MGE1	WDR82	0.74251522	0.004010703	Integral membrane protein	BrainSpLMD|80335	OMIM|611059
IN-CTX-MGE1	KIAA1211	0.435332736	0.004207145	Unclassified		
IN-CTX-MGE1	PSMG2	0.279681662	0.004208429	Cell cycle control protein	BrainSpLMD|56984	OMIM|609702
IN-CTX-MGE1	PWP1	0.490169633	0.004309668	Transcription regulatory protein	BrainSpLMD|11137;Eurexp|euxassay_003751|trachea	
IN-CTX-MGE1	CCP110	0.315471811	0.004326209		BrainSpLMD|9738;Eurexp|euxassay_005409|olfactory	OMIM|609544
IN-CTX-MGE1	TSN	0.396161958	0.004386068	DNA binding protein	BrainSpLMD|7247	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600575
IN-CTX-MGE1	SNX27	0.452923679	0.00441493	Transport/cargo protein	BrainSpLMD|81609	OMIM|611541
IN-CTX-MGE1	RANBP1	0.266142888	0.00447729	Transport/cargo protein		OMIM|601180
IN-CTX-MGE1	WDFY3	0.296426947	0.004501135	Unclassified	BrainSpLMD|23001;Eurexp|euxassay_010172|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 2 - Strong candidate;OMIM|617485
IN-CTX-MGE1	RAB8A	0.375097019	0.004544901	GTPase	BrainSpLMD|4218	OMIM|165040
IN-CTX-MGE1	ERO1LB	0.915476524	0.004565924			
IN-CTX-MGE1	MTF2	0.409493793	0.004580874	Transcription regulatory protein	BrainSpLMD|22823;BrainSpMouseDev|17532	OMIM|609882
IN-CTX-MGE1	RP11.553L6.5	0.375402824	0.004674672			
IN-CTX-MGE1	ODF2L	0.414307707	0.00475836	Unclassified	BrainSpLMD|57489	
IN-CTX-MGE1	RAB3GAP1	0.488499232	0.004830673	GTPase activating protein		OMIM|602536;HPO|22930|Abnormal dermatoglyphics, Abnormal toenail morphology, Abnormality of retinal pigmentation, Abnormality of the distal phalanx of finger, Abnormality of visual evoked potentials, Agenesis of corpus callosum, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Brachycephaly, Cataract, Cerebellar hypoplasia, Cerebral atrophy, Cerebral cortical atrophy, Clitoral hypoplasia, Congenital cataract, Cortical visual impairment, Cryptorchidism, Deeply set eye, Delayed puberty, Depressed nasal bridge, Everted lower lip vermilion, External genital hypoplasia, Facial hypertrichosis, Failure to thrive, Feeding difficulties in infancy, Furrowed tongue, Generalized hirsutism, Generalized hypotonia, Global developmental delay, High palate, Hyperlordosis, Hyperreflexia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplastic labia minora, Hypotelorism, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphoscoliosis, Kyphosis, Lissencephaly, Low posterior hairline, Low-set, posteriorly rotated ears, Macrotia, Malar flattening, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Midface retrusion, Misalignment of teeth, Muscular hypotonia, Optic atrophy, Osteoporosis, Pachygyria, Prematurely aged appearance, Ptosis, Scoliosis, Short nose, Short philtrum, Short stature, Spastic diplegia, Spasticity, Ulnar deviation of finger, Wide nasal bridge
IN-CTX-MGE1	ARF1	0.390508692	0.004843804	GTPase	BrainSpLMD|375	OMIM|103180
IN-CTX-MGE1	MPPED2	0.617952671	0.00489688	Enzyme: Hydrolase	BrainSpLMD|744;Eurexp|euxassay_014223|axial skeleton, head mesenchyme, rib, thyroid, ventricular layer	OMIM|600911
IN-CTX-MGE1	ZNF814	0.618732537	0.005065426	DNA binding protein		
IN-CTX-MGE1	SMAD4	0.49137464	0.005086528	Transcription factor	BrainSpLMD|4089;Eurexp|euxassay_005333|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, orbito-sphenoid, trigeminal V, vagus X;BrainSpMouseDev|16898	SFARI||Autism, 3 - Suggestive evidence;OMIM|600993;COSMIC||colorectal, pancreatic, small intestine, gastrointestinal polyp;HPO|4089|2-3 toe syndactyly, Abdominal pain, Abnormality of epiphysis morphology, Abnormality of the cardiac septa, Abnormality of the metaphysis, Abnormality of the pubic bone, Abnormality of the ribs, Abnormality of the voice, Anemia, Aortic valve stenosis, Autism, Autosomal dominant inheritance, Blepharophimosis, Brachydactyly, Broad ribs, Camptodactyly, Cavernous hemangioma, Cholecystitis, Clinodactyly, Coarctation of aorta, Cone-shaped epiphysis, Craniofacial hyperostosis, Cryptorchidism, Deeply set eye, EMG abnormality, Enlarged vertebral pedicles, Epistaxis, Failure to thrive, Fine hair, Generalized muscle hypertrophy, Global developmental delay, Hamartomatous polyposis, Hearing impairment, Hematochezia, High-grade hypermetropia, Hypermetropia, Hypertelorism, Hypertension, Hypoalbuminemia, Hypokalemia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Intellectual disability, Intrauterine growth retardation, Joint stiffness, Large iliac wings, Laryngotracheal stenosis, Limitation of joint mobility, Low-set ears, Malar flattening, Mandibular prognathia, Microcephaly, Microcytic anemia, Microtia, Midface retrusion, Migraine, Multiple gastric polyps, Narrow mouth, Neoplasm of the pancreas, Overlapping toe, Patent ductus arteriosus, Pericardial effusion, Platyspondyly, Portal hypertension, Prominent nasal bridge, Ptosis, Radial deviation of finger, Seizures, Severe short stature, Short finger, Short long bone, Short neck, Short palm, Short palpebral fissure, Short philtrum, Short stature, Short toe, Skeletal muscle hypertrophy, Somatic mutation, Sparse hair, Specific learning disability, Spontaneous hematomas, Stiff skin, Strabismus, Telangiectasia of the skin, Thick eyebrow, Thickened calvaria, Thickened skin, Thin upper lip vermilion, Thin vermilion border, Vertebral fusion, Visceral angiomatosis
IN-CTX-MGE1	MFN1	0.328298179	0.005088844	GTPase	BrainSpLMD|55669	OMIM|608506
IN-CTX-MGE1	CNOT4	0.35457124	0.00521915	Transcription regulatory protein	BrainSpLMD|4850	OMIM|604911
IN-CTX-MGE1	MPZL1	0.659467328	0.005340914	Unclassified	BrainSpLMD|9019	OMIM|604376
IN-CTX-MGE1	ANKRD50	0.787513877	0.005364624	Unclassified	BrainSpLMD|57182	
IN-CTX-MGE1	PSMC2	0.374011063	0.005386679	Ubiquitin proteasome system protein	BrainSpLMD|5701	OMIM|154365
IN-CTX-MGE1	SPPL3	0.861845228	0.005412732		BrainSpLMD|121665;Eurexp|euxassay_012501|vibrissa	OMIM|608240
IN-CTX-MGE1	AZIN1	0.354453112	0.005549326	Unclassified	BrainSpLMD|51582	OMIM|607909
IN-CTX-MGE1	PSMD1	0.251200432	0.005589996	Ubiquitin proteasome system protein	BrainSpLMD|5707;Eurexp|euxassay_016545|dorsal root ganglion, lung, mantle layer, olfactory, thymus primordium, ventral grey horn	
IN-CTX-MGE1	SUGP2	0.43309049	0.005639207	RNA binding protein	BrainSpLMD|10147;Eurexp|euxassay_009811|mandible, maxilla, orbito-sphenoid, rib	OMIM|607993
IN-CTX-MGE1	IRGQ	0.383092811	0.00571447	Unclassified		
IN-CTX-MGE1	CFL2	0.274553926	0.00582958	Cytoskeletal associated protein	BrainSpLMD|1073	OMIM|601443;HPO|1073|Areflexia, Autosomal recessive inheritance, Delayed gross motor development, Gait disturbance, Generalized hypotonia, Gowers sign, High palate, Joint hypermobility, Minicore myopathy, Muscle weakness, Muscular hypotonia, Neck muscle weakness, Nemaline bodies, Slow progression
IN-CTX-MGE1	KLF7	0.48115217	0.005990399	Transcription factor	BrainSpLMD|8609;Eurexp|euxassay_003485|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, respiratory, stroma, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII;BrainSpMouseDev|60343	OMIM|604865
IN-CTX-MGE1	GFPT1	0.305258924	0.006169622	Enzyme: Aminotransferase	BrainSpLMD|2673	OMIM|138292;HPO|2673|Abnormality of the immune system, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Decreased fetal movement, Decreased muscle mass, Decreased size of nerve terminals, Dental malocclusion, Dysarthria, Dysphagia, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, Easy fatigability, Facial palsy, Fatigable weakness, Feeding difficulties, Generalized hypotonia, Gowers sign, High palate, Infantile onset, Juvenile onset, Long face, Mandibular prognathia, Mildly elevated creatine phosphokinase, Motor delay, Muscle cramps, Muscular hypotonia, Neck muscle weakness, Nonprogressive, Ophthalmoparesis, Proximal amyotrophy, Ptosis, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Strabismus, Type 2 muscle fiber atrophy, Variable expressivity, Waddling gait, Weak cry
IN-CTX-MGE1	NDUFA9	0.512716751	0.006212617	Enzyme: Oxidoreductase	BrainSpLMD|4704;Eurexp|euxassay_018912|axial muscle, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, liver, lung, mandible, mantle layer, maxilla, midgut, neural retina, orbito-sphenoid, pancreas, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, vibrissa	OMIM|603834;HPO|4704|Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
IN-CTX-MGE1	KIAA1191	0.581975407	0.006432983	Unclassified	BrainSpLMD|57179;Eurexp|euxassay_011470|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	
IN-CTX-MGE1	SEL1L	0.449530148	0.006480983	Integral membrane protein	BrainSpLMD|6400;BrainSpMouseDev|20101	OMIM|602329
IN-CTX-MGE1	SH3BGRL3	0.496969087	0.006568369	Unclassified	BrainSpLMD|83442;Eurexp|euxassay_003517|basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, thymus primordium, trigeminal V, vagus X, ventral grey horn	OMIM|615679
IN-CTX-MGE1	NCOA4	0.294183776	0.006627838	Transcription regulatory protein	BrainSpLMD|8031	OMIM|601984;COSMIC||papillary thyroid;HPO|8031|Autosomal dominant inheritance, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma
IN-CTX-MGE1	RAB14	0.344272244	0.00684003	GTPase	BrainSpLMD|51552	OMIM|612673
IN-CTX-MGE1	ZNF655	0.560409278	0.006889892	DNA binding protein	BrainSpLMD|79027;Eurexp|euxassay_007173|olfactory	
IN-CTX-MGE1	ZNF281	0.803913887	0.006891736	Transcription regulatory protein	BrainSpLMD|23528;Eurexp|euxassay_007265|fundus region, lung, urethra, vertebral axis muscle system	
IN-CTX-MGE1	PBX1	0.450761816	0.00693747	Transcription regulatory protein	BrainSpLMD|5087;BrainSpMouseDev|18280	OMIM|176310;COSMIC||pre B-ALL, myoepithelioma
IN-CTX-MGE1	TSG101	0.251534615	0.007223132	Ubiquitin proteasome system protein	BrainSpLMD|7251;Eurexp|euxassay_002131|brain, cervical, cervico-thoracic, dorsal root ganglion, spinal cord, thoracic, trigeminal V	OMIM|601387;HPO|7251|Autosomal dominant inheritance, Breast carcinoma, Heterogeneous
IN-CTX-MGE1	USP9Y	0.69205795	0.007248008	Ubiquitin proteasome system protein	BrainSpLMD|8287	SFARI||Autism, No category;OMIM|400005;HPO|8287|Azoospermia, Decreased testicular size, Male infertility, Non-obstructive azoospermia, Oligospermia, Y-linked inheritance
IN-CTX-MGE1	ZNF568	0.361408958	0.007413059	DNA binding protein	BrainSpLMD|374900	OMIM|617566
IN-CTX-MGE1	AGO1	0.283387911	0.007448448	Translation regulatory protein	BrainSpLMD|26523;Eurexp|euxassay_012863|facial VII, incisor, mantle layer, marginal layer, molar, neural retina, olfactory, trigeminal V, ventricular layer	OMIM|606228
IN-CTX-MGE1	HERPUD2	0.674336952	0.007482823	Unclassified	BrainSpLMD|64224	
IN-CTX-MGE1	NIPBL	0.305484283	0.007608482	-	BrainSpLMD|25836	SFARI||Autism, No category;OMIM|608667;HPO|25836|2-3 toe syndactyly, Abnormality of the umbilicus, Abnormally low-pitched voice, Anteverted nares, Anxiety, Astigmatism, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Choanal atresia, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Conductive hearing impairment, Congenital diaphragmatic hernia, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Dislocated radial head, Downturned corners of mouth, Duplication of internal organs, Ectopic kidney, Elbow dislocation, Elbow flexion contracture, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Hand oligodactyly, Hiatus hernia, High palate, High, narrow palate, Highly arched eyebrow, Hirsutism, Hypertonia, Hypoplasia of penis, Hypoplasia of the radius, Hypoplastic labia majora, Hypoplastic male external genitalia, Hypoplastic nipples, Hypoplastic radial head, Hypospadias, Inguinal hernia, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Limited elbow extension, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Malrotation of colon, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Optic nerve coloboma, Phenotypic variability, Phocomelia, Phthisis bulbi, Pneumonia, Premature birth, Proptosis, Proximal placement of thumb, Ptosis, Pyloric stenosis, Radioulnar synostosis, Reduced renal corticomedullary differentiation, Seizures, Self-injurious behavior, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Short sternum, Single transverse palmar crease, Sleep disturbance, Small hand, Sporadic, Strabismus, Supernumerary ribs, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Thrombocytopenia, Toe syndactyly, Ventricular septal defect, Vesicoureteral reflux, Weak cry, Widely spaced teeth
IN-CTX-MGE1	ALMS1	0.543034079	0.00772531	Unclassified	BrainSpLMD|7840;Eurexp|euxassay_013199|epithelium, olfactory	OMIM|606844;HPO|7840|Abnormality of the dentition, Abnormality of the hand, Acanthosis nigricans, Accelerated skeletal maturation, Alopecia, Asthma, Atherosclerosis, Autosomal recessive inheritance, Blindness, Cataract, Chorioretinal abnormality, Chronic active hepatitis, Chronic otitis media, Cone/cone-rod dystrophy, Congestive heart failure, Constriction of peripheral visual field, Death in early adulthood, Decreased circulating high-density lipoprotein levels, Diabetes insipidus, Dilated cardiomyopathy, Elevated hepatic transaminases, Gingivitis, Global developmental delay, Growth hormone deficiency, Gynecomastia, Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hyperostosis frontalis interna, Hypertension, Hypertriglyceridemia, Hyperuricemia, Hypothyroidism, Insulin resistance, Insulin-resistant diabetes mellitus, Kyphosis, Menstrual irregularities, Multinodular goiter, Nephritis, Nystagmus, Otitis media, Pes planus, Photophobia, Pigmentary retinopathy, Progressive sensorineural hearing impairment, Progressive visual loss, Pulmonary arterial hypertension, Recurrent pneumonia, Recurrent respiratory infections, Renal insufficiency, Respiratory insufficiency, Scoliosis, Short stature, Subcapsular cataract, Truncal obesity, Tubulointerstitial nephritis, Type II diabetes mellitus
IN-CTX-MGE1	PTPN12	0.826603004	0.007807492	Tyrosine phosphatase	BrainSpLMD|5782	OMIM|600079
IN-CTX-MGE1	FAM193A	0.627950454	0.007895307	DNA binding protein	BrainSpLMD|8603	
IN-CTX-MGE1	CDC123	0.325822793	0.008012659	Cell cycle control protein	BrainSpLMD|8872	OMIM|617708
IN-CTX-MGE1	MMADHC	0.326244387	0.008067475	Unclassified	BrainSpLMD|27249	OMIM|611935;HPO|27249|Anorexia, Autosomal recessive inheritance, Behavioral abnormality, Cerebral cortical atrophy, Decreased adenosylcobalamin, Decreased methionine synthase activity, Decreased methylcobalamin, Decreased methylmalonyl-CoA mutase activity, Dystonia, Failure to thrive, Fatigue, Gait disturbance, Generalized hypotonia, Global developmental delay, Homocystinuria, Hyperhomocystinemia, Hypomethioninemia, Increased mean corpuscular volume, Infantile onset, Intellectual disability, Lethargy, Megaloblastic anemia, Megaloblastic bone marrow, Methylmalonic acidemia, Methylmalonic aciduria, Nystagmus, Pallor, Seizures, Spastic ataxia
IN-CTX-MGE1	ZDHHC17	0.300806398	0.008078308	Unclassified	BrainSpLMD|23390	OMIM|607799
IN-CTX-MGE1	KATNBL1	0.48040486	0.008191925	Unclassified		OMIM|616235
IN-CTX-MGE1	PDCL	0.416607053	0.008390452	Regulatory/other subunit	BrainSpLMD|5082	OMIM|604421
IN-CTX-MGE1	NRXN1	0.505759324	0.008571853	Cell surface receptor	BrainSpLMD|9378;Eurexp|euxassay_005585|arm, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, leg, midbrain, neural retina, olfactory, oral epithelium, respiratory, spinal cord, thoracic, trigeminal V, trunk mesenchyme, vagus X, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17956	SFARI||Autism, 2 - Strong candidate;OMIM|600565;HPO|9378|Autosomal recessive inheritance, Constipation, Drooling, Epileptic encephalopathy, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Hyperventilation, Intellectual disability, severe, Protruding tongue, Pulmonic stenosis, Scoliosis, Strabismus, Wide mouth
IN-CTX-MGE1	CEP85L	0.368212766	0.008600752	Unclassified	BrainSpLMD|387119	
IN-CTX-MGE1	UBR5	0.304130132	0.008789189	Ubiquitin proteasome system protein	BrainSpLMD|51366;Eurexp|euxassay_010003|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, submandibular gland primordium, trigeminal V, vagus X, ventricular layer, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|608413;COSMIC||mantle cell lymphoma, gastric, colorectal
IN-CTX-MGE1	HTATSF1	0.668485576	0.008870945	Transcription factor	BrainSpLMD|27336	OMIM|300346
IN-CTX-MGE1	ZNF714	0.606185485	0.008927487	DNA binding protein	BrainSpLMD|148206	
IN-CTX-MGE1	PDS5B	0.372547756	0.009047261	Transcription factor	BrainSpLMD|23047	OMIM|605333
IN-CTX-MGE1	COPS5	0.40804131	0.009203751	Ubiquitin proteasome system protein	BrainSpLMD|10987;Eurexp|euxassay_012062|dorsal root ganglion, exoccipital bone, facial VII, glossopharyngeal IX, mantle layer, orbito-sphenoid, temporal bone, trigeminal V, turbinate, vagus X, ventral grey horn;BrainSpMouseDev|26501	OMIM|604850
IN-CTX-MGE1	KALRN	0.433534858	0.009314865	Guanine nucleotide exchange factor	BrainSpLMD|8997	OMIM|604605
IN-CTX-MGE1	COPS2	0.464335587	0.009420968	Transcription regulatory protein	BrainSpLMD|9318	OMIM|604508
IN-CTX-MGE1	FTO	0.736605814	0.009456275	Unclassified	BrainSpLMD|79068	OMIM|610966;HPO|79068|Anteverted nares, Autosomal recessive inheritance, Bifid uvula, Brachydactyly, Cleft palate, Coarse facial features, Cryptorchidism, Cutis marmorata, Dandy-Walker malformation, Failure to thrive, Global developmental delay, Hydrocephalus, Hypertonia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Lissencephaly, Macroglossia, Microcephaly, Obesity, Patent ductus arteriosus, Protruding tongue, Retrognathia, Seizures, Sensorineural hearing impairment, Short neck, Skull asymmetry, Small nail, Umbilical hernia, Ventricular septal defect
IN-CTX-MGE1	EAPP	0.413334163	0.009520098	Unclassified	BrainSpLMD|55837	OMIM|609486
IN-CTX-MGE1	BCAS2	0.567481546	0.009588698	Cell cycle control protein	Eurexp|euxassay_001997|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, submandibular gland primordium, trigeminal V	OMIM|605783
IN-CTX-MGE1	PCDH11X	0.787878626	0.009819127	Cell junction protein	BrainSpLMD|27328;Eurexp|euxassay_015176|bladder, extrinsic ocular muscle, mantle layer, metatarsus, olfactory, phalanx, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|89410	SFARI||Autism, 4 - Minimal evidence;OMIM|300246
IN-CTX-MGE1	TNRC6A	0.33837438	0.009963683	Transcription regulatory protein	BrainSpLMD|27327	OMIM|610739
IN-CTX-MGE2	ACKR3	3.157312082	0	G protein coupled receptor	BrainSpLMD|57007;Eurexp|euxassay_005213|atrium, calyces, capsule, cortex, mantle layer, marginal layer, medulla, meninges, mesenchyme, oesophagus, stomach, ventricle, ventricular layer	OMIM|610376;COSMIC||lipoma
IN-CTX-MGE2	NXPH1	2.816776573	0	Secreted polypeptide	BrainSpLMD|30010;Eurexp|euxassay_007637|dorsal grey horn, mantle layer, ventral grey horn	SFARI||Autism, 4 - Minimal evidence;OMIM|604639
IN-CTX-MGE2	FAM135B	2.802645729	0	Unclassified	BrainSpLMD|51059;Eurexp|euxassay_010225|ventral grey horn	SFARI||Autism, No category;COSMIC||SCLC
IN-CTX-MGE2	PTPRT	2.754399325	0	Receptor tyrosine phosphatase	BrainSpLMD|11122	SFARI||Autism, No category;OMIM|608712;COSMIC||HNSCC, colorectal cancer, gastric cancer, lung cancer, melanoma
IN-CTX-MGE2	MAF	2.735828205	0	Transcription factor	BrainSpLMD|4094;Eurexp|euxassay_015869|choroid plexus, dorsal grey horn, facial VII, incisor, lens, mandible, mantle layer, maxilla, metanephros, molar, nasal septum, rib, trigeminal V, ventricular layer;BrainSpMouseDev|16902	OMIM|177075;COSMIC||MM;HPO|4094|Autosomal dominant inheritance, Brachycephaly, Broad eyebrow, Broad philtrum, Cataract, Cerulean cataract, Congenital cataract, Cortical pulverulent cataract, Depressed nasal bridge, Flat face, High forehead, Hypertelorism, Intellectual disability, Iris coloboma, Long philtrum, Low-set ears, Malar flattening, Microcornea, Midface retrusion, Myopia, Narrow mouth, Ptosis, Radioulnar synostosis, Seizures, Sensorineural hearing impairment, Short nose, Short stature, Smooth philtrum, Thin upper lip vermilion, Wide nasal bridge
IN-CTX-MGE2	SST	2.632951322	0	Peptide hormone	BrainSpLMD|6750;BrainSpMouseDev|20366	OMIM|182450
IN-CTX-MGE2	AKAP5	2.596075993	0	Anchor protein	BrainSpLMD|9495	OMIM|604688
IN-CTX-MGE2	GRIP2	2.303828089	0	Unclassified	Eurexp|euxassay_010840|mantle layer, tongue	
IN-CTX-MGE2	RPH3A	2.129008686	0	Membrane transport protein	BrainSpLMD|22895	OMIM|612159
IN-CTX-MGE2	ERBB4	2.108491261	0	Receptor tyrosine kinase	BrainSpLMD|2066;Eurexp|euxassay_008088|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|13647	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600543;COSMIC||melanoma, gastric, NSCLC, Amyotrophic lateral sclerosis 19;HPO|2066|Adult onset, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Loss of ability to walk, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Xerostomia
IN-CTX-MGE2	BMP3	2.014285363	0	Ligand	BrainSpLMD|651;Eurexp|euxassay_008763|axial muscle, axial skeleton, cervical, cervico-thoracic, extrinsic ocular muscle, lip, lung, mandible, mantle layer, maxilla, mesenchyme, metanephros, metatarsus, midgut, nasal septum, nucleus pulposus, orbito-sphenoid, palatal shelf, phalanx, pharyngo-tympanic tube, rib, skeletal muscle, stomach, temporal bone, thoracic, turbinate bones, ureter, urethra, vibrissa;BrainSpMouseDev|74232	OMIM|112263
IN-CTX-MGE2	LHX6	1.992317524	0	Transcription factor	BrainSpLMD|26468;BrainSpMouseDev|16645	OMIM|608215
IN-CTX-MGE2	MAGI2	1.759039319	0	Unclassified	BrainSpLMD|9863	OMIM|606382
IN-CTX-MGE2	NRXN3	1.710355412	0	Adhesion molecule	BrainSpLMD|9369;Eurexp|euxassay_009777|bladder, collecting ducts, inner ear, mantle layer, marginal layer, neural retina, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|600567
IN-CTX-MGE2	CADPS	1.679746516	0	Membrane transport protein	BrainSpLMD|8618;Eurexp|euxassay_006311|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral wall, mantle layer, meninges, neural retina, olfactory, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|604667
IN-CTX-MGE2	GAD1	1.664852718	0	Enzyme: Decarboxylase	BrainSpLMD|2571;Eurexp|euxassay_005634|cerebral cortex, corpus striatum, hindbrain, incisor, mantle layer, marginal layer, molar, olfactory lobe, oral region, spinal cord, telencephalon;BrainSpMouseDev|14191	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605363;HPO|2571|Autosomal recessive inheritance, Babinski sign, Cerebral palsy, Flexion contracture, Global developmental delay, Heterogeneous, Hyperreflexia, Infantile onset, Intellectual disability, Microcephaly, Scoliosis, Seizures, Spastic diplegia, Spastic tetraplegia
IN-CTX-MGE2	WI2.1896O14.1	1.652655436	0			
IN-CTX-MGE2	RP11.588P7.1	1.57721137	0			
IN-CTX-MGE2	PDZRN4	1.565873159	0	Unclassified	BrainSpLMD|29951;Eurexp|euxassay_013149|axial skeleton, basioccipital bone, femur, fibula, humerus, mantle layer, phalanx, rib, scapula, tibia	OMIM|609730
IN-CTX-MGE2	GRIA1	1.437444682	0	Extracellular ligand gated channel	BrainSpLMD|2890;Eurexp|euxassay_018233|mantle layer, neural retina, palatal shelf, saccule;BrainSpMouseDev|14575	SFARI||Autism, 2 - Strong candidate;OMIM|138248
IN-CTX-MGE2	ST8SIA5	1.396448822	0	Enzyme: Sialyltransferase	BrainSpLMD|29906	OMIM|607162
IN-CTX-MGE2	PDE4DIP	1.332391248	0	Transport/cargo protein	BrainSpLMD|9659;Eurexp|euxassay_015920|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|608117;COSMIC||MPN
IN-CTX-MGE2	RUNX1T1	1.242640412	0	Transcription regulatory protein	BrainSpLMD|862;Eurexp|euxassay_016597|dorsal grey horn, mantle layer;BrainSpMouseDev|12180	OMIM|133435;COSMIC||AML
IN-CTX-MGE2	PLS3	1.115066508	0	Structural protein	BrainSpLMD|5358	OMIM|300131;HPO|5358|Osteopenia, Osteoporosis, Vertebral compression fractures, X-linked dominant inheritance
IN-CTX-MGE2	SOX2.OT	1.103939646	0			
IN-CTX-MGE2	DCX	1.064812653	0	Cytoskeletal associated protein	BrainSpLMD|1641;Eurexp|euxassay_018537|brain, capsule, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|12973	SFARI||Autism, No category;OMIM|300121;HPO|1641|Agenesis of corpus callosum, Ataxia, Death in infancy, Dysarthria, Feeding difficulties, Hypertonia, Incomplete penetrance, Infantile onset, Intellectual disability, Intellectual disability, severe, Lissencephaly, Micropenis, Motor delay, Muscular hypotonia, Muscular hypotonia of the trunk, Nystagmus, Pachygyria, Postnatal growth retardation, Seizures, X-linked inheritance
IN-CTX-MGE2	DLX2	1.018434434	0	Transcription factor	BrainSpLMD|1746;BrainSpMouseDev|13171	SFARI||Autism, 4 - Minimal evidence;OMIM|126255
IN-CTX-MGE2	DLX6.AS1	0.963793503	0			
IN-CTX-MGE2	FAM65B	0.960291462	0			
IN-CTX-MGE2	TCF4	0.859578013	0	Transcription factor	BrainSpLMD|6925;BrainSpMouseDev|21174	SFARI||Autism, No category;OMIM|602272;HPO|6925|Abnormal large intestine physiology, Abnormality of the palate, Absent speech, Aggressive behavior, Anteverted nares, Aphasia, Ascites, Astigmatism, Ataxia, Autoimmunity, Autosomal dominant inheritance, Cirrhosis, Clinodactyly, Clubbing, Coarse facial features, Constipation, Cryptorchidism, Cupped ear, Deeply set eye, Dilated superficial abdominal veins, Dysautonomia, Dysphasia, Echolalia, Elevated alkaline phosphatase of hepatic origin, Elevated hepatic transaminases, Encephalopathy, Esophagitis, Failure of eruption of permanent teeth, Failure to thrive, Feeding difficulties, Fever, Full cheeks, Gait ataxia, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Hepatosplenomegaly, Hiatus hernia, Hypoplasia of the corpus callosum, Incoordination, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intermittent hyperventilation, Microcephaly, Micropenis, Misalignment of teeth, Motor delay, Muscular hypotonia, Mutism, Myopia, Narrow foot, Narrow forehead, Open mouth, Palmar telangiectasia, Pes planus, Pes valgus, Portal hypertension, Seizures, Short neck, Short philtrum, Single transverse palmar crease, Sleep apnea, Specific learning disability, Spider hemangioma, Splenomegaly, Strabismus, Tapered finger, Thick vermilion border, Thickened helices, Ulcerative colitis, Upslanted palpebral fissure, Weight loss, Wide mouth, Wide nasal bridge, Widely spaced teeth
IN-CTX-MGE2	MEF2C	0.849547212	0	Transcription regulatory protein	BrainSpLMD|4208;Eurexp|euxassay_018172|axial skeleton, clavicle, diaphragm, dorsal grey horn, glossopharyngeal IX, incisor, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metatarsus, orbito-sphenoid, phalanx, rest of mesenchyme, rib, skeletal muscle, trigeminal V, vault of skull, vertebral axis muscle system, vibrissa;BrainSpMouseDev|17029	SFARI||Autism, 4 - Minimal evidence;OMIM|600662;HPO|4208|Anteverted nares, Autistic behavior, Autosomal dominant inheritance, Broad forehead, Delayed speech and language development, Depressed nasal bridge, Downturned corners of mouth, Generalized hypotonia, High forehead, Hypertelorism, Hypoplasia of the corpus callosum, Inability to walk, Intellectual disability, severe, Low-set ears, Motor delay, Muscular hypotonia, Poor eye contact, Seizures, Short chin, Short nose, Short philtrum, Sporadic, Stereotypy, Upslanted palpebral fissure, Ventriculomegaly
IN-CTX-MGE2	SOX11	0.256186807	0	Transcription factor	BrainSpLMD|6664;BrainSpMouseDev|20428	OMIM|600898;HPO|6664|Abnormal facial shape, Abnormality of cardiovascular system morphology, Abnormality of the columella, Abnormality of the dentition, Abnormality of the nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Autosomal dominant inheritance, Clinodactyly, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Everted lower lip vermilion, Feeding difficulties in infancy, Full cheeks, Generalized hirsutism, Global developmental delay, Hearing impairment, Highly arched eyebrow, Hypertrichosis, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Long nose, Low-set ears, Microcephaly, Midface retrusion, Muscular hypotonia, Nystagmus, Open mouth, Posteriorly rotated ears, Recurrent respiratory infections, Scoliosis, Seizures, Short chin, Short distal phalanx of finger, Short nose, Short palpebral fissure, Short philtrum, Short stature, Slow-growing hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick vermilion border, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Wide mouth, Wide nasal bridge
IN-CTX-MGE2	CH17.472G23.1	1.781641539	1.11E-16			
IN-CTX-MGE2	ZFHX4	0.314675414	5.00E-15	Transcription factor	BrainSpLMD|79776;Eurexp|euxassay_005820|epidermis, mantle layer, nasal septum, urethra;BrainSpMouseDev|56662	OMIM|606940;HPO|79776|Autosomal dominant inheritance, Congenital ptosis
IN-CTX-MGE2	CXCR4	1.561539581	7.66E-15	G protein coupled receptor	BrainSpLMD|7852;Eurexp|euxassay_006007|cervical, cervico-thoracic, corpus striatum, incisor, mantle layer, mitral valve, molar, neural retina, olfactory, thoracic, thymus primordium, valve, ventricular layer, vibrissa;BrainSpMouseDev|12551	OMIM|162643;COSMIC||WM;HPO|7852|Abnormality of female external genitalia, Abnormality of female internal genitalia, Autosomal dominant inheritance, Bone marrow hypercellularity, Bronchiectasis, Decreased antibody level in blood, IgG deficiency, Infantile onset, Myelokathexis, Neutropenia, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Verrucae
IN-CTX-MGE2	PDE4D	1.110424031	9.21E-14	Enzyme: Phosphodiesterase	BrainSpLMD|5144	OMIM|600129;HPO|5144|Abnormal form of the vertebral bodies, Abnormality of female external genitalia, Abnormality of immune system physiology, Abnormality of the nail, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Anteverted nares, Autism, Autosomal dominant inheritance, Blue irides, Brachycephaly, Brachydactyly, Cerebral venous thrombosis, Cone-shaped epiphysis, Congenital craniofacial dysostosis, Congenital hypothyroidism, Congenital onset, Cryptorchidism, Delayed eruption of teeth, Delayed speech and language development, Depressed nasal bridge, Depressed nasal ridge, Diabetes mellitus, Elevated calcitonin, Elevated circulating parathyroid hormone level, Epiphyseal stippling, Fair hair, Global developmental delay, Growth hormone deficiency, Hearing impairment, Hyperactivity, Hyperphosphatemia, Hypertelorism, Hypocalcemia, Hypogonadism, Hypoplasia of the maxilla, Hypoplasia of the nasal bone, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic vertebral bodies, Hypospadias, Increased intracranial pressure, Intellectual disability, Intrauterine growth retardation, Malar flattening, Mandibular prognathia, Micromelia, Midface retrusion, Mild short stature, Narrow vertebral interpedicular distance, Obesity, Open mouth, Peripheral neuropathy, Pseudohypoparathyroidism, Red hair, Round face, Scoliosis, Short metacarpal, Short metatarsal, Short nose, Short phalanx of finger, Short stature, Short toe, Specific learning disability, Spinal canal stenosis, Wide nasal bridge
IN-CTX-MGE2	RP11.588P7.2	2.076265836	1.64E-13			
IN-CTX-MGE2	CUX1	1.312316399	4.24E-13	Transcription regulatory protein	BrainSpLMD|1523;BrainSpMouseDev|12828	SFARI||Autism, 3 - Suggestive evidence;OMIM|116896;COSMIC||endometrial, melanoma, colorectal, AML, MDS, other tumour types
IN-CTX-MGE2	ATRNL1	1.76636852	5.42E-13	Integral membrane protein	BrainSpLMD|26033	SFARI||Autism, 5 - Hypothesized but untested;OMIM|612869
IN-CTX-MGE2	QKI	0.758936381	6.43E-13	RNA binding protein	BrainSpLMD|9444;Eurexp|euxassay_012259|diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, lens, lung, mandible, mantle layer, marginal layer, maxilla, meninges, midgut, neural retina, orbito-sphenoid, petrous part, skeletal muscle, stomach, submandibular gland primordium, turbinate, vault of skull, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|609590;COSMIC||angiocentric glioma, colorectal cancer
IN-CTX-MGE2	GRIA4	1.589821335	7.44E-13	Extracellular ligand gated channel	BrainSpLMD|2893;Eurexp|euxassay_006297|bladder, brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, ductus deferens, facial VII, incisor, loop, medulla, metanephros, molar, neural retina, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|14578	OMIM|138246
IN-CTX-MGE2	CH17.472G23.4	1.646999652	9.11E-13			
IN-CTX-MGE2	SEMA6A	1.323525418	1.03E-12	Integral membrane protein	BrainSpLMD|57556;Eurexp|euxassay_011666|axial skeleton, clavicle, cochlea, mandible, mantle layer, marginal layer, maxilla, meninges, mesenchyme, metanephros, neural retina, palatal shelf, skeletal muscle, submandibular gland primordium, thyroid, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|20121	OMIM|605885
IN-CTX-MGE2	TMEM2	1.404539229	1.18E-12	Integral membrane protein	BrainSpLMD|23670	OMIM|605835
IN-CTX-MGE2	RBMS3	2.108172817	1.90E-12	RNA binding protein	BrainSpLMD|27303	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605786
IN-CTX-MGE2	VSTM2A	1.888220836	3.41E-12	Unclassified	BrainSpLMD|222008;Eurexp|euxassay_004356|head mesenchyme, mandible, mantle layer, maxilla, mesenchyme, ventral grey horn	
IN-CTX-MGE2	SOX6	0.999706012	4.11E-12	Transcription factor	BrainSpLMD|55553;BrainSpMouseDev|20441	OMIM|607257
IN-CTX-MGE2	SIAH3	1.610972309	5.48E-12	Unclassified	BrainSpLMD|283514	OMIM|615609
IN-CTX-MGE2	CNTNAP4	2.343729286	1.18E-11	Adhesion molecule	BrainSpLMD|85445;BrainSpMouseDev|81891	SFARI||Autism, 3 - Suggestive evidence;OMIM|610518
IN-CTX-MGE2	ZEB2	0.831894759	1.78E-11	Transcription regulatory protein	BrainSpLMD|9839;Eurexp|euxassay_005774|bladder, dorsal grey horn, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, lung, mantle layer, metanephros, midgut, nasal septum, penis, pharyngo-tympanic tube, stomach;BrainSpMouseDev|23887	OMIM|605802;HPO|9839|Abdominal distention, Abnormality of metabolism/homeostasis, Abnormality of the abdominal wall, Abnormality of the rib cage, Absent speech, Atrial septal defect, Autosomal dominant inheritance, Broad eyebrow, Delayed eruption of teeth, Drooling, Generalized hypotonia, Happy demeanor, Hypoplasia of the corpus callosum, Intellectual disability, moderate, Motor delay, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pulmonary artery sling, Pulmonary artery stenosis, Pulmonic stenosis, Supernumerary nipple, Ventricular septal defect, Vomiting, Widely spaced teeth
IN-CTX-MGE2	MAPK10	1.244580923	1.94E-11	Serine/threonine kinase	BrainSpLMD|5602;Eurexp|euxassay_009977|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|26162	OMIM|602897;HPO|5602|Abnormality of brainstem morphology, Aggressive behavior, Atonic seizures, Atypical absence seizures, Autistic behavior, EEG with focal sharp slow waves, Encephalopathy, Falls, Generalized tonic seizures, Generalized tonic-clonic seizures, Hyperactivity, Intellectual disability, Mental deterioration, Myoclonus, Personality disorder
IN-CTX-MGE2	TENM1	1.764535927	7.19E-11	Integral membrane protein	BrainSpLMD|10178	OMIM|300588
IN-CTX-MGE2	NPAS3	1.659506781	8.66E-11	Transcription factor	BrainSpLMD|64067;Eurexp|euxassay_009424|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|27131	OMIM|609430
IN-CTX-MGE2	ZNF536	1.390784641	1.44E-10	DNA binding protein	BrainSpLMD|9745;Eurexp|euxassay_015751|adrenal gland, bladder, brain, cochlea, dorsal root ganglion, forelimb, glossopharyngeal IX, hindgut, hindlimb, limb, loop, lung, mandible, medullary stroma, midgut, molar, oesophagus, olfactory, penis, pituitary, rectum, retina, spinal cord, stomach, thyroid, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	
IN-CTX-MGE2	GAD2	1.524651002	1.47E-10	Enzyme: Decarboxylase	BrainSpLMD|2572;Eurexp|euxassay_001769|dorsal grey horn, lateral ventricle, mantle layer;BrainSpMouseDev|14193	OMIM|138275
IN-CTX-MGE2	BCL11B	0.831683272	2.04E-10	Transcription regulatory protein;DNA binding protein	BrainSpLMD|64919;BrainSpMouseDev|37240	OMIM|606558;COSMIC||T-ALL;HPO|64919|Absent speech, Autosomal dominant inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hirsutism, Hypertelorism, Inflammatory abnormality of the skin, Intellectual disability, Micrognathia, Natal tooth, Pulmonary artery stenosis, Seizures, Severe combined immunodeficiency, Short palpebral fissure, Spastic tetraplegia, Umbilical hernia, Wormian bones
IN-CTX-MGE2	CHL1	0.936800832	2.67E-10	Adhesion molecule	BrainSpLMD|10752;BrainSpMouseDev|12446	OMIM|607416;HPO|10752|Atrioventricular canal defect, Brachycephaly, Cleft palate, Cognitive impairment, Cryptorchidism, Downturned corners of mouth, Epicanthus, Hearing impairment, High palate, Hypertelorism, Intrauterine growth retardation, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscular hypotonia, Postaxial hand polydactyly, Ptosis, Short stature, Telecanthus
IN-CTX-MGE2	ARX	1.159446408	3.54E-10	Transcription factor	BrainSpLMD|170302;Eurexp|euxassay_018148|floor plate, floorplate, mantle layer, mesenchyme, ovary, pancreas, paramesonephric duct, skeletal muscle, tarsus, ventricle, ventricular layer;BrainSpMouseDev|11665	SFARI||Autism, No category;OMIM|300382;HPO|170302|Abnormal hair pattern, Abnormality of skin morphology, Abnormality of the hip bone, Agenesis of corpus callosum, Ambiguous genitalia, Broad alveolar ridges, Choreoathetosis, Coarse facial features, Cryptorchidism, Death in infancy, Decreased testicular size, Delayed speech and language development, Developmental regression, Diarrhea, Duane anomaly, Dysarthria, Dysphagia, Dyspnea, Dystonia, EEG abnormality, Epileptic encephalopathy, Feeding difficulties in infancy, Flexion contracture, Focal dystonia, Generalized hirsutism, Generalized hypotonia, Generalized myoclonic seizures, Gliosis, Global developmental delay, Hemiplegia, High forehead, High palate, Hirsutism, Hyperconvex nail, Hyperreflexia, Hypohidrosis, Hypoplasia of penis, Hypospadias, Hypsarrhythmia, Infantile spasms, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Large eyes, Limb dystonia, Limb joint contracture, Lissencephaly, Long philtrum, Long upper lip, Low anterior hairline, Low-set ears, Lower limb spasticity, Malabsorption, Microcephaly, Micrognathia, Micropenis, Muscle stiffness, Muscular hypotonia, Muscular hypotonia of the trunk, Myoclonus, Neonatal hypotonia, Nystagmus, Optic atrophy, Overlapping toe, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Prominent supraorbital ridges, Protruding ear, Renal dysplasia, Rigidity, Scoliosis, Seizures, Severe global developmental delay, Short stature, Spastic tetraplegia, Spasticity, Specific learning disability, Status epilepticus, Strabismus, Synophrys, Tapered finger, Tetraplegia, Thin upper lip vermilion, Triangular face, Ventriculomegaly, Visual impairment, Wide anterior fontanel, Wide nasal bridge, X-linked inheritance, X-linked recessive inheritance
IN-CTX-MGE2	SOX1	1.192976753	4.17E-10	Transcription factor	BrainSpLMD|6656;Eurexp|euxassay_019565|ventral grey horn, ventricular layer	OMIM|602148
IN-CTX-MGE2	CELF4	0.933659195	4.72E-10	RNA binding protein	BrainSpLMD|56853;Eurexp|euxassay_009241|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|612679
IN-CTX-MGE2	NELL1	2.014662005	5.05E-10	Enzyme: Oxidoreductase	BrainSpLMD|4745	SFARI||Autism, No category;OMIM|602319
IN-CTX-MGE2	MINOS1	0.54333492	1.88E-09	Unclassified		OMIM|616574
IN-CTX-MGE2	NRXN1	0.986752003	2.20E-09	Cell surface receptor	BrainSpLMD|9378;Eurexp|euxassay_005585|arm, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, leg, midbrain, neural retina, olfactory, oral epithelium, respiratory, spinal cord, thoracic, trigeminal V, trunk mesenchyme, vagus X, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17956	SFARI||Autism, 2 - Strong candidate;OMIM|600565;HPO|9378|Autosomal recessive inheritance, Constipation, Drooling, Epileptic encephalopathy, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Hyperventilation, Intellectual disability, severe, Protruding tongue, Pulmonic stenosis, Scoliosis, Strabismus, Wide mouth
IN-CTX-MGE2	KCTD12	0.598900899	5.38E-09	Ion channel	BrainSpLMD|115207;BrainSpMouseDev|88550	OMIM|610521
IN-CTX-MGE2	CH17.189H20.1	1.779968858	6.09E-09			
IN-CTX-MGE2	MTSS1	1.075901187	8.91E-09	Cytoskeletal associated protein	BrainSpLMD|9788	OMIM|608486
IN-CTX-MGE2	BBX	0.258282322	1.10E-08	Transcription factor	BrainSpLMD|56987;Eurexp|euxassay_001866|cortex, mantle layer, pituitary, testis, ventricular layer;BrainSpMouseDev|46349	
IN-CTX-MGE2	PARP8	1.7521209	1.31E-08	Unclassified	BrainSpLMD|79668;Eurexp|euxassay_003449|adenohypophysis, bladder, central nervous system, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, heart, hindlimb, incisor, intervertebral disc, limb, liver, lung, metanephros, midgut, molar, neural retina, oesophagus, olfactory, penis, respiratory, stomach, stroma, thymus primordium, tongue, trachea, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, visceral organ	
IN-CTX-MGE2	TENM2	1.974904421	1.33E-08	Translation regulatory protein		OMIM|610119
IN-CTX-MGE2	RP11.16E23.4	0.949179172	2.15E-08			
IN-CTX-MGE2	BRINP2	1.674192328	2.30E-08	Unclassified	BrainSpLMD|57795	
IN-CTX-MGE2	TRERF1	1.828476044	2.59E-08	Transcription factor	BrainSpLMD|55809	OMIM|610322
IN-CTX-MGE2	ATP5H	0.795831922	3.75E-08			
IN-CTX-MGE2	BCL11A	0.560291667	7.16E-08	DNA binding protein	BrainSpLMD|53335;Eurexp|euxassay_007892|dorsal grey horn, incisor, naris, olfactory, pharyngo-tympanic tube, submandibular gland primordium, vibrissa;BrainSpMouseDev|13802	SFARI||Autism, 2 - Strong candidate;OMIM|606557;COSMIC||B-CLL;HPO|53335|Autosomal dominant inheritance, Congenital onset, Cupped ear, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, Global developmental delay, Intellectual disability, Joint hypermobility, Low-set ears, Microcephaly, Midface retrusion, Overfolded helix, Retrognathia, Strabismus, Thin upper lip vermilion
IN-CTX-MGE2	SLAIN1	1.603477942	8.78E-08	Unclassified	BrainSpLMD|122060	OMIM|610491
IN-CTX-MGE2	XKR4	1.703594239	8.98E-08	Integral membrane protein		
IN-CTX-MGE2	SYT1	0.906066137	9.15E-08	Calcium binding protein	BrainSpLMD|6857;Eurexp|euxassay_018026|adrenal gland, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, epithelium, external, facial VII, foregut-midgut junction, glossopharyngeal IX, hindbrain, hindgut, incisor, limb, mantle layer, marginal layer, mesenchyme, midbrain, midgut, neural retina, oesophagus, olfactory, oral epithelium, pectoralis major, pectoralis minor, pituitary, retina, spinal cord, stomach, stroma, thoracic, tongue, trigeminal V, ureter, urethra, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|20740	OMIM|185605
IN-CTX-MGE2	MIR181A1HG	1.290321498	9.18E-08			
IN-CTX-MGE2	HNRNPA1L2	0.558208552	1.10E-07	RNA binding protein		
IN-CTX-MGE2	NTN4	1.061047623	1.90E-07	Extracellular matrix protein	BrainSpLMD|59277;Eurexp|euxassay_007631|valve, ventricular layer;BrainSpMouseDev|37036	OMIM|610401
IN-CTX-MGE2	SLC6A1	1.412257197	2.13E-07	Membrane transport protein	BrainSpLMD|6529;Eurexp|euxassay_018302|brain, glossopharyngeal IX, marginal layer, neural retina, spinal cord, vestibulocochlear VIII;BrainSpMouseDev|87401	SFARI||Autism, 2 - Strong candidate;OMIM|137165;HPO|6529|Abnormal brain FDG positron emission tomography, Absence seizures, Ataxia, Atonic seizures, Autosomal dominant inheritance, Developmental regression, Dysarthria, EEG with abnormally slow frequencies, EEG with spike-wave complexes (>3.5 Hz), Epileptic encephalopathy, Eyelid myoclonus, Intellectual disability, Mental deterioration, Myoclonic atonic seizures, Status epilepticus
IN-CTX-MGE2	DLGAP1.AS5	1.949278459	2.99E-07			
IN-CTX-MGE2	CRB1	1.183697961	3.56E-07	Unclassified	BrainSpLMD|23418	OMIM|604210;HPO|23418|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Encephalocele, Esotropia, Glaucoma, Hemiplegia/hemiparesis, High-grade hypermetropia, Hyperinsulinemia, Hypermetropia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Muscular hypotonia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paravenous chorioretinal atrophy, Pendular nystagmus, Photophobia, Progressive night blindness, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe visual impairment, Undetectable electroretinogram, Visual impairment, Vitreoretinal degeneration, Wide nasal bridge
IN-CTX-MGE2	SOX4	0.303856577	3.61E-07	Transcription factor	BrainSpLMD|6659;Eurexp|euxassay_019583|cervical, cervico-thoracic, dorsal grey horn, dorsal root ganglion, incisor, lung, mantle layer, mesenchyme, metanephros, molar, neural retina, oesophagus, phalanx, submandibular gland primordium, testis, trachea, valve, vibrissa;BrainSpMouseDev|20439	OMIM|184430
IN-CTX-MGE2	ARRDC3	0.567601038	4.32E-07	Unclassified	BrainSpLMD|57561	OMIM|612464
IN-CTX-MGE2	ARID5B	1.802289121	5.54E-07	DNA binding protein	Eurexp|euxassay_016566|mantle layer;BrainSpMouseDev|47212	OMIM|608538
IN-CTX-MGE2	TAOK1	0.263637538	9.42E-07	Serine/threonine kinase	BrainSpLMD|57551;Eurexp|euxassay_011509|adrenal gland, brain, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, left lung, metanephros, retina, right lung, spinal cord, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|610266
IN-CTX-MGE2	ST8SIA4	1.230545181	9.64E-07	Enzyme: Sialyltransferase	BrainSpLMD|7903;Eurexp|euxassay_007776|brain, dorsal root ganglion, left lung, mesenchyme, neural retina, olfactory, organ system, right lung, spinal cord, trigeminal V	OMIM|602547
IN-CTX-MGE2	NACA3P	0.311720134	9.78E-07			
IN-CTX-MGE2	KCNA3	1.805332877	1.03E-06	Voltage gated channel	BrainSpLMD|3738;Eurexp|euxassay_010872|mantle layer	OMIM|176263
IN-CTX-MGE2	PSMD6	0.304888072	1.63E-06	Ubiquitin proteasome system protein	BrainSpLMD|9861	
IN-CTX-MGE2	SATB1	0.797407735	2.02E-06	Transcription factor	BrainSpLMD|6304;Eurexp|euxassay_018001|cervical, cervico-thoracic, dorsal root ganglion, epidermis, facial VII, glossopharyngeal IX, marginal layer, neural retina, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|19993	OMIM|602075
IN-CTX-MGE2	PTBP2	0.633098441	2.39E-06	RNA binding protein	BrainSpLMD|58155	SFARI||Autism, 4 - Minimal evidence;OMIM|608449
IN-CTX-MGE2	CCDC88A	0.499646104	2.58E-06	Cytoskeletal protein	BrainSpLMD|55704;Eurexp|euxassay_012890|mantle layer, ventral grey horn	OMIM|609736;HPO|55704|Abnormality of the hand, Autosomal recessive inheritance, Cerebellar atrophy, Developmental stagnation, Edema, Epicanthus, Feeding difficulties in infancy, Full cheeks, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile encephalopathy, Intellectual disability, profound, Myoclonus, Narrow forehead, Neuronal loss in central nervous system, Open mouth, Optic atrophy, Pachygyria, Peripheral dysmyelination, Polymicrogyria, Progressive microcephaly, Retrognathia, Seizures, Severe muscular hypotonia, Short nose, Tented upper lip vermilion, Undetectable visual evoked potentials
IN-CTX-MGE2	RPL5P23	0.634400057	2.65E-06			
IN-CTX-MGE2	GRIK3	0.774811535	2.87E-06	Extracellular ligand gated channel	BrainSpLMD|2899;BrainSpMouseDev|14583	SFARI||Autism, No category;OMIM|138243
IN-CTX-MGE2	SEPT7P7	0.307098226	3.57E-06			
IN-CTX-MGE2	DLX1	0.277284408	4.24E-06	Transcription factor	BrainSpLMD|1745;Eurexp|euxassay_008426|cochlea, epithelium, footplate, handplate, incisor, inner ear, mantle layer, midgut, naso-lacrimal duct, neural retina, oesophagus, paraxial mesenchyme, retina, skeletal muscle, skeleton, stomach, utricle, vibrissa;BrainSpMouseDev|13169	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600029
IN-CTX-MGE2	RP5.857K21.11	1.020812021	4.34E-06			
IN-CTX-MGE2	SNAP25	1.021664308	4.41E-06	Membrane transport protein	BrainSpLMD|6616;Eurexp|euxassay_015720|cervical, cervico-thoracic, dorsal root ganglion, extrinsic ocular muscle, facial VII, forebrain, glossopharyngeal IX, hindbrain, lip, midbrain, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|600322;HPO|6616|Areflexia, Ataxia, Autosomal dominant inheritance, Congenital onset, Decreased fetal movement, Difficulty walking, Dysarthria, Easy fatigability, Flexion contracture, Global developmental delay, Muscle weakness, Poor speech, Ptosis, Respiratory insufficiency
IN-CTX-MGE2	ZMYM4.AS1	0.618854744	4.67E-06			
IN-CTX-MGE2	CNTNAP2	0.775672949	4.95E-06	Adhesion molecule	BrainSpLMD|26047;Eurexp|euxassay_011473|facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V	SFARI||Autism, 2 - Strong candidate;OMIM|604569;COSMIC||glioma, melanoma;HPO|26047|Cortical dysplasia, Delayed gross motor development, Hyperactivity, Impaired social interactions, Intellectual disability, Progressive language deterioration, Reduced tendon reflexes, Seizures
IN-CTX-MGE2	NDUFB4	0.383370441	5.24E-06	Enzyme: Oxidoreductase		OMIM|603840
IN-CTX-MGE2	PAM	1.155619467	5.82E-06	Enzyme: Oxygenase	BrainSpLMD|5066;Eurexp|euxassay_007685|atrium, axial skeleton, dorsal grey horn, dorsal root ganglion, extrinsic ocular muscle, eyelid, floorplate, glossopharyngeal IX, hindgut, incisor, inner ear, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 4 and 5, lip, mandible, mantle layer, maxilla, medulla, midgut, molar, neural retina, oesophagus, palatal shelf, pancreas, skeletal muscle, stomach, thyroid, trachea, trigeminal V, vagus X, ventricle, ventricular layer, vibrissa	OMIM|170270
IN-CTX-MGE2	CDK14	1.571592151	6.41E-06	Serine/threonine kinase	BrainSpLMD|5218;Eurexp|euxassay_007197|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, oesophagus, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|610679
IN-CTX-MGE2	MIR124.2HG	1.305959485	8.48E-06			
IN-CTX-MGE2	NDUFC1	0.629733719	1.02E-05	Unclassified	BrainSpLMD|4717	OMIM|603844
IN-CTX-MGE2	ELMO1	0.640062816	1.42E-05	Unclassified;Motor protein	BrainSpLMD|9844;Eurexp|euxassay_012546|floor plate, floorplate, mantle layer, marginal layer, vibrissa	OMIM|606420
IN-CTX-MGE2	ZCRB1	0.30588682	1.46E-05	RNA binding protein	BrainSpLMD|85437	OMIM|610750
IN-CTX-MGE2	OFD1	0.443073227	1.62E-05	Unclassified	BrainSpLMD|8481;Eurexp|euxassay_001435|lung, nasal septum, oral epithelium, urethra	SFARI||Autism, 4 - Minimal evidence;OMIM|300170;HPO|8481|Abnormal cortical gyration, Abnormal electroretinogram, Abnormal heart morphology, Abnormality of color vision, Abnormality of retinal pigmentation, Abnormality of the cerebellum, Abnormality of the retinal vasculature, Abnormality of the rib cage, Abnormality of the testis, Abnormality of toe, Accessory oral frenulum, Agenesis of corpus callosum, Agenesis of permanent teeth, Alopecia, Alveolar ridge overgrowth, Anteverted nares, Arachnoid cyst, Ataxia, Atypical scarring of skin, Bifid tongue, Blindness, Brachydactyly, Broad alveolar ridges, Broad palm, Carious teeth, Cataract, Cerebellar vermis hypoplasia, Cleft palate, Clinodactyly, Clinodactyly of the 5th finger, Coarse facial features, Conductive hearing impairment, Cone-shaped epiphysis, Congenital hip dislocation, Congenital onset, Deep philtrum, Downslanted palpebral fissures, Enlarged cisterna magna, Epicanthus, Facial asymmetry, Facial capillary hemangioma, Feeding difficulties in infancy, Finger syndactyly, Foot polydactyly, Frontal bossing, Generalized hypotonia, Glaucoma, Global developmental delay, Gray matter heterotopias, Growth delay, Hamartoma of tongue, Hearing impairment, Hepatic cysts, Hepatic fibrosis, High palate, Hirsutism, Hydrocephalus, Hyperactive deep tendon reflexes, Hyperinsulinemia, Hypertelorism, Hypertension, Hypodontia, Hypogonadism, Hypoplasia of dental enamel, Hypoplasia of penis, Hypothalamic hamartoma, Increased number of teeth, Inguinal hernia, Intellectual disability, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Keratoconus, Lobulated tongue, Low-set ears, Macrocephaly, Median cleft lip, Microcephaly, Micropenis, Microretrognathia, Milia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Ovarian cyst, Photophobia, Pneumonia, Polycystic kidney dysplasia, Polydactyly, Porencephalic cyst, Postaxial polydactyly, Posteriorly rotated ears, Progressive night blindness, Proteinuria, Radial deviation of finger, Recurrent infections, Recurrent respiratory infections, Recurrent upper respiratory tract infections, Reduced bone mineral density, Rod-cone dystrophy, Scaphocephaly, Seizures, Sensorineural hearing impairment, Short finger, Short neck, Short nose, Short stature, Short toe, Single transverse palmar crease, Small nail, Sparse hair, Syndactyly, Talipes equinovarus, Tapered finger, Telecanthus, Thick vermilion border, Thickened nuchal skin fold, Thin upper lip vermilion, Tongue nodules, U-Shaped upper lip vermilion, Underdeveloped nasal alae, Wide intermamillary distance, Wide mouth, Wide nasal bridge, Wide nose, X-linked dominant inheritance, X-linked recessive inheritance
IN-CTX-MGE2	PRKD1	1.178714303	1.89E-05	Serine/threonine kinase	BrainSpLMD|5587	SFARI||Autism, No category;OMIM|605435;HPO|5587|Autosomal dominant inheritance, Broad thumb, Delayed speech and language development, Depressed nasal bridge, Dry skin, Feeding difficulties, Fragile nails, Generalized hypotonia, Global developmental delay, Microcephaly, Microdontia, Nystagmus, Premature loss of primary teeth, Prominent forehead, Prominent nasal bridge, Scoliosis, Sparse scalp hair, Syndactyly, Thin skin, Widely spaced teeth
IN-CTX-MGE2	MYEOV2	0.287308303	2.40E-05			
IN-CTX-MGE2	SLC29A4	0.385569701	2.45E-05	Membrane transport protein	BrainSpLMD|222962;Eurexp|euxassay_015715|choroid plexus;BrainSpMouseDev|89066	SFARI||Autism, No category;OMIM|609149
IN-CTX-MGE2	uc_338	0.60182629	2.79E-05			
IN-CTX-MGE2	ENSA	0.310004965	4.27E-05	Ligand	BrainSpLMD|2029	OMIM|603061
IN-CTX-MGE2	EIF4G1	0.598725449	4.41E-05	Translation regulatory protein	BrainSpLMD|1981	OMIM|600495
IN-CTX-MGE2	RP13.514E23.1	0.625298836	4.49E-05			
IN-CTX-MGE2	PSMF1	1.036672202	4.95E-05	Protease inhibitor	BrainSpLMD|9491	
IN-CTX-MGE2	CDC27	0.587241523	4.97E-05	Cell cycle control protein	BrainSpLMD|996	OMIM|116946
IN-CTX-MGE2	RPL7AP30	0.779341444	5.14E-05			
IN-CTX-MGE2	CUX2	1.381493733	5.74E-05	Transcription factor	BrainSpMouseDev|12829	OMIM|610648
IN-CTX-MGE2	RNF34	0.471183643	5.92E-05	Ubiquitin proteasome system protein	BrainSpLMD|80196;Eurexp|euxassay_009160|primitive seminiferous tubules	OMIM|608299
IN-CTX-MGE2	DOCK11	0.858762641	5.93E-05	Unclassified	BrainSpLMD|139818	OMIM|300681
IN-CTX-MGE2	BLOC1S1	0.468314065	6.79E-05	Enzyme: Acyltransferase	BrainSpLMD|2647	OMIM|601444
IN-CTX-MGE2	SERINC5	0.900868874	6.97E-05	Unclassified	BrainSpLMD|256987;Eurexp|euxassay_011506|anterior, clavicle, floor plate, floorplate, incisor, mantle layer, marginal layer, molar, phalanx, thyroid, ventricular layer, vibrissa	OMIM|614551
IN-CTX-MGE2	ERBB2IP	0.608728013	7.25E-05			
IN-CTX-MGE2	EEF1B2P3	0.367457016	7.40E-05			
IN-CTX-MGE2	ANK3	0.841398382	7.51E-05	Adapter molecule	BrainSpLMD|288;BrainSpMouseDev|11522	SFARI||Autism, No category;OMIM|600465;HPO|288|Aggressive behavior, Autosomal recessive inheritance, Bruxism, Generalized hypotonia, Hyperactivity, Intellectual disability, Intellectual disability, moderate, Spasticity
IN-CTX-MGE2	METAP1D	1.309082521	7.52E-05		BrainSpLMD|254042	OMIM|610267
IN-CTX-MGE2	MAPT	0.534236529	7.71E-05	Structural protein	BrainSpLMD|4137;Eurexp|euxassay_002990|calyces, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, hindgut, mantle layer, marginal layer, midbrain, midgut, neural retina, olfactory, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|17529	OMIM|157140;HPO|4137|Abnormal brain FDG positron emission tomography, Abnormal pyramidal signs, Abnormality of the cerebral white matter, Adult onset, Aggressive behavior, Akinesia, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apathy, Apraxia, Autosomal dominant inheritance, Axial dystonia, Blurred vision, Bradykinesia, Collectionism, Dementia, Depressivity, Diplopia, Disinhibition, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphagia, Dysphasia, EEG with continuous slow activity, Echolalia, Emotional blunting, Eyelid apraxia, Falls, Frontal lobe dementia, Frontolimbic dementia, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait imbalance, Gliosis, Grammar-specific speech disorder, Granulovacuolar degeneration, Heterogeneous, Hyperorality, Inappropriate behavior, Inappropriate laughter, Inappropriate sexual behavior, Irritability, Kyphoscoliosis, Lack of insight, Language impairment, Loss of speech, Memory impairment, Morphological abnormality of the pyramidal tract, Mutism, Neurofibrillary tangles, Neuronal loss in central nervous system, Ophthalmoparesis, Parkinsonism, Perseveration, Personality changes, Photophobia, Polyphagia, Poor speech, Primitive reflex, Restlessness, Restrictive behavior, Retrocollis, Rigidity, Spoken Word Recognition Deficit, Sporadic, Stereotypy, Supranuclear gaze palsy, Temporal cortical atrophy, Thickened nuchal skin fold, Tremor
IN-CTX-MGE2	MEX3D	0.356081596	8.18E-05	RNA binding protein	BrainSpLMD|399664	OMIM|611009
IN-CTX-MGE2	SVIL	0.254269704	8.42E-05	Cytoskeletal associated protein	BrainSpLMD|6840;Eurexp|euxassay_011675|epidermis, exoccipital bone, meninges, midgut, pharyngo-tympanic tube, skeletal muscle, stomach, vibrissa	OMIM|604126
IN-CTX-MGE2	AMER2	0.534300008	0.00010067	Unclassified	BrainSpLMD|219287;Eurexp|euxassay_006362|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614659
IN-CTX-MGE2	UQCR11	0.25899211	0.000105118	Enzyme: Reductase	BrainSpLMD|10975	OMIM|609711
IN-CTX-MGE2	GRIP1	1.046837167	0.000113091	-	Eurexp|euxassay_013281|neural retina	SFARI||Autism, 2 - Strong candidate;OMIM|604597;HPO|23426|Abnormal cortical gyration, Abnormal heart morphology, Abnormality of the anus, Abnormality of the pinna, Abnormality of the small intestine, Abnormality of the thymus, Abnormality of the umbilicus, Absent eyebrow, Absent eyelashes, Ambiguous genitalia, Anal atresia, Anal stenosis, Anophthalmia, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb, Atresia of the external auditory canal, Autosomal recessive inheritance, Bicornuate uterus, Bifid tongue, Bilateral microphthalmos, Blindness, Calvarial skull defect, Choanal stenosis, Cleft ala nasi, Cleft palate, Cleft upper lip, Clitoral hypertrophy, Conductive hearing impairment, Corneal opacity, Cryptophthalmos, Cryptorchidism, Cupped ear, Cutaneous finger syndactyly, Dental crowding, Dental malocclusion, Depressed nasal bridge, Difficulty in tongue movements, Encephalocele, Extension of hair growth on temples to lateral eyebrow, External ear malformation, Facial cleft, Female pseudohermaphroditism, Finger syndactyly, Hydrocephalus, Hypertelorism, Hypoplasia of penis, Hypoplastic superior helix, Hypospadias, Intellectual disability, Lacrimal duct aplasia, Laryngeal atresia, Laryngeal stenosis, Laryngeal web, Low-set ears, Low-set, posteriorly rotated ears, Malformed lacrimal ducts, Microcephaly, Micropenis, Microphthalmia, Midline nasal groove, Morphological abnormality of the middle ear, Multicystic kidney dysplasia, Myelomeningocele, Pulmonary hypoplasia, Renal hypoplasia, Renal hypoplasia/aplasia, Scrotal hypoplasia, Severe T-cell immunodeficiency, Subglottic stenosis, Toe syndactyly, Underdeveloped nasal alae, Upper eyelid coloboma, Vaginal atresia, Wide intermamillary distance, Wide nasal bridge, Wide nose, Wide pubic symphysis
IN-CTX-MGE2	THUMPD1	0.292007301	0.000119352	Unclassified	BrainSpLMD|55623	OMIM|616662
IN-CTX-MGE2	TNRC6B	0.620221407	0.000134944	Unclassified	BrainSpLMD|23112	SFARI||Autism, 2 - Strong candidate;OMIM|610740
IN-CTX-MGE2	ATCAY	0.783196598	0.000135765	Integral membrane protein	BrainSpLMD|85300;Eurexp|euxassay_004136|brain, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, midgut, neural retina, olfactory, spinal cord, stomach, telencephalon, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608179;HPO|85300|Autosomal recessive inheritance, Broad-based gait, Dysarthria, Gait ataxia, Generalized hypotonia, Global developmental delay, Intention tremor, Nystagmus
IN-CTX-MGE2	GRIK2	0.602338526	0.000142438	Extracellular ligand gated channel	BrainSpLMD|2898;Eurexp|euxassay_008383|cerebellum, cortex, diencephalon, footplate, hindgut, medulla oblongata, midbrain, midgut, pituitary, pons, spinal cord, stomach, telencephalon, tongue, trigeminal V;BrainSpMouseDev|14582	SFARI||Autism, 3 - Suggestive evidence;OMIM|138244;HPO|2898|Autosomal recessive inheritance, Global developmental delay, Infantile onset, Intellectual disability
IN-CTX-MGE2	GTF3C6	0.484239058	0.000143513	Unclassified	BrainSpLMD|112495	OMIM|611784
IN-CTX-MGE2	NETO2	1.10621786	0.000153189	Integral membrane protein	BrainSpLMD|81831;Eurexp|euxassay_009406|mantle layer, marginal layer	OMIM|607974
IN-CTX-MGE2	STAU1	0.339170207	0.000154613	RNA binding protein;Transport/cargo protein	BrainSpLMD|6780	OMIM|601716
IN-CTX-MGE2	AC012358.8	1.121515417	0.000163171			
IN-CTX-MGE2	CCT8P1	1.061482585	0.000164155			
IN-CTX-MGE2	LINC00969	0.934867477	0.000168431			
IN-CTX-MGE2	CSRNP3	1.009345898	0.000169592	Unclassified	BrainSpLMD|80034;Eurexp|euxassay_009789|brain, mantle layer, spinal cord, trigeminal V, ventricular layer	
IN-CTX-MGE2	THRB	0.916856273	0.000173154	Nuclear receptor	BrainSpLMD|7068;Eurexp|euxassay_005806|adenohypophysis, vestibulocochlear VIII;BrainSpMouseDev|21593	OMIM|190160;HPO|7068|Abdominal distention, Abnormality of the thyroid gland, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Coarse facial features, Constipation, Convex nasal ridge, Delayed skeletal maturation, Delayed speech and language development, Epiphyseal stippling, Feeding difficulties, Goiter, Hearing impairment, Hyperthyroidism, Hypothyroidism, Increased serum free triiodothyronine, Increased thyroid-stimulating hormone level, Jaundice, Large fontanelles, Macroglossia, Muscular hypotonia, Pectus carinatum, Proptosis, Sensorineural hearing impairment, Sleep disturbance, Small for gestational age, Sprengel anomaly, Thyroid hormone receptor defect, Umbilical hernia
IN-CTX-MGE2	APC	0.867283827	0.000193244	Adhesion molecule	BrainSpLMD|324;Eurexp|euxassay_007660|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|11576	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611731;COSMIC||colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS, colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS;HPO|324|Abdominal pain, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Adenomatous colonic polyposis, Adrenocortical carcinoma, Astrocytoma, Autosomal dominant inheritance, Colon cancer, Desmoid tumors, Epidermoid cyst, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hyperpigmentation of the skin, Intestinal polyposis, Keloids, Malabsorption, Micronodular cirrhosis, Multiple gastric polyps, Multiple lipomas, Myalgia, Neoplasm of the stomach, Odontoma, Renal cell carcinoma, Small intestine carcinoid, Somatic mutation, Stomach cancer, Subacute progressive viral hepatitis, Subcutaneous nodule, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Variable expressivity
IN-CTX-MGE2	AC016716.2	0.771003915	0.000204342			
IN-CTX-MGE2	ANKRD11	0.580465133	0.000232972	Transcription regulatory protein	BrainSpLMD|29123	SFARI||Autism, 2 - Strong candidate;OMIM|611192;HPO|29123|Anteverted nares, Autism, Autosomal dominant inheritance, Cervical ribs, Clinodactyly, Colpocephaly, Cryptorchidism, Delayed skeletal maturation, Frontal bossing, Global developmental delay, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Intellectual disability, moderate, Long palpebral fissure, Long philtrum, Low anterior hairline, Low posterior hairline, Macrodontia, Macrotia, Microcephaly, Micrognathia, Oligodontia, Optic nerve hypoplasia, Periventricular gray matter heterotopia, Pointed chin, Protruding ear, Radial deviation of finger, Rib fusion, Round face, Seizures, Short stature, Single transverse palmar crease, Smooth philtrum, Syndactyly, Telecanthus, Thick eyebrow, Thoracic kyphosis, Triangular face, Underdeveloped nasal alae, Ventriculomegaly, Vertebral arch anomaly, Vertebral fusion, Wide mouth, Widely-spaced maxillary central incisors
IN-CTX-MGE2	DST	0.601925529	0.000233191	Cytoskeletal associated protein	BrainSpLMD|667;Eurexp|euxassay_016245|incisor, molar, oesophagus, olfactory, oral epithelium, stomach, urethra, vibrissa;BrainSpMouseDev|13297	SFARI||Autism, 4 - Minimal evidence;OMIM|113810;HPO|667|Alacrima, Apnea, Areflexia, Atrophic scars, Autosomal recessive inheritance, Blotching pigmentation of the skin, Bradycardia, Corneal scarring, Feeding difficulties, Fever, Flexion contracture, Growth delay, Hand clenching, Hyperhidrosis, Limited hip extension, Neonatal hypotonia, Open mouth, Respiratory insufficiency, Sensory neuropathy, Tachycardia, Talipes equinovarus
IN-CTX-MGE2	ARHGEF7	0.517569645	0.000245023	Guanine nucleotide exchange factor	BrainSpLMD|8874	OMIM|605477
IN-CTX-MGE2	CDC5L	0.368467401	0.000247174	Cell cycle control protein	BrainSpLMD|988	OMIM|602868
IN-CTX-MGE2	ARHGAP1	0.321200384	0.000256542	GTPase activating protein	BrainSpLMD|392	OMIM|602732
IN-CTX-MGE2	TXLNA	0.283262556	0.000257522	Unclassified	BrainSpLMD|200081;Eurexp|euxassay_005956|embryo	OMIM|608676
IN-CTX-MGE2	TNRC6C	0.517290234	0.000262732	RNA binding protein	BrainSpLMD|57690	OMIM|610741
IN-CTX-MGE2	RP11.380L11.4	0.710737353	0.000295252			
IN-CTX-MGE2	ANKRD28	0.93344731	0.000330219	Unclassified	BrainSpLMD|23243	OMIM|611122
IN-CTX-MGE2	DROSHA	0.607935591	0.000338738	Ribonuclease	BrainSpLMD|29102;Eurexp|euxassay_018939|incisor, lung, metanephros, molar, submandibular gland primordium, vibrissa	OMIM|608828;COSMIC||Wilms tumour, NSCLC, bladder carcinoma
IN-CTX-MGE2	7-Sep	0.75602802	0.000369095			
IN-CTX-MGE2	FIS1	0.342995426	0.0003839	Unclassified	BrainSpLMD|51024	OMIM|609003
IN-CTX-MGE2	GIGYF2	0.980406864	0.000388398	Unclassified	BrainSpLMD|26058	SFARI||Autism, 2 - Strong candidate;OMIM|612003
IN-CTX-MGE2	MTUS1	1.496537562	0.000393918	Growth inhibitory factor	BrainSpLMD|57509	OMIM|609589
IN-CTX-MGE2	FGF9	1.140677592	0.000421055	Growth factor	BrainSpLMD|2254;BrainSpMouseDev|13957	OMIM|600921;HPO|2254|Autosomal dominant inheritance, Cubitus valgus, Humeroradial synostosis, Limited interphalangeal movement, Metacarpal synostosis, Metatarsal synostosis
IN-CTX-MGE2	MRPS10	0.363177234	0.000425757	Ribosomal subunit	BrainSpLMD|55173	OMIM|611976
IN-CTX-MGE2	TTC3	0.452987887	0.000425942	Unclassified	BrainSpLMD|7267	OMIM|602259
IN-CTX-MGE2	BMPR2	0.441720937	0.000437997	Receptor serine/threonine kinase	BrainSpLMD|659;Eurexp|euxassay_008027|dorsal root ganglion, glossopharyngeal IX, neural retina, trigeminal V;BrainSpMouseDev|11954	OMIM|600799;HPO|659|Abnormal thrombosis, Arterial intimal fibrosis, Autosomal dominant inheritance, Dyspnea, Elevated jugular venous pressure, Elevated right atrial pressure, Hypertension, Incomplete penetrance, Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis, Pulmonary venous occlusion, Right ventricular failure, Right ventricular hypertrophy, Telangiectasia
IN-CTX-MGE2	TCEA1	0.267271301	0.00044524	Transcription factor		OMIM|601425;COSMIC||salivary adenoma
IN-CTX-MGE2	RP11.196G18.22	0.367995626	0.000465703			
IN-CTX-MGE2	ANAPC5	0.356718692	0.000474295	Cell cycle control protein	BrainSpLMD|51433	OMIM|606948
IN-CTX-MGE2	DCLK1	0.82897608	0.000485997	Serine/threonine kinase	BrainSpLMD|9201;Eurexp|euxassay_018536|floor plate, floorplate, mantle layer, ventral grey horn, ventricular layer	OMIM|604742
IN-CTX-MGE2	FAM92A1	0.416223949	0.000509516			
IN-CTX-MGE2	NF2	0.548968979	0.000544896	Cytoskeletal associated protein	BrainSpLMD|4771	OMIM|607379;COSMIC||meningioma, acoustic neuroma, renal, meningioma, acoustic neuroma;HPO|4771|Abnormality of the skin, Abnormality of the vertebral column, Adult onset, Ataxia, Autosomal dominant inheritance, Cataract, Epiretinal membrane, Incomplete penetrance, Meningioma, Migraine, Peripheral neuropathy, Schwannoma, Sensorineural hearing impairment, Somatic mutation, Spinal cord tumor, Tinnitus, Variable expressivity, Vertigo
IN-CTX-MGE2	LPHN3	0.905349784	0.000587316			
IN-CTX-MGE2	BRK1	0.579381284	0.000589416	Unclassified	BrainSpLMD|55845	OMIM|611183
IN-CTX-MGE2	SPATS2L	1.369393149	0.000609254	Unclassified	BrainSpLMD|26010;Eurexp|euxassay_013635|bladder, exoccipital bone, mantle layer, mesenchyme, oesophagus, orbito-sphenoid, penis, pharyngo-tympanic tube, tongue, turbinate, vertebral axis muscle system, vibrissa	OMIM|613817
IN-CTX-MGE2	JAKMIP2	0.877676586	0.000610496	Unclassified	BrainSpLMD|9832	OMIM|611197
IN-CTX-MGE2	ZNF91	0.578753052	0.000613477	Transcription regulatory protein	BrainSpLMD|7644	OMIM|603971
IN-CTX-MGE2	INA	0.759977652	0.000615136	Cytoskeletal protein	BrainSpLMD|9118;Eurexp|euxassay_012424|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|605338
IN-CTX-MGE2	NAE1	0.436548408	0.00062301	Adapter molecule	BrainSpLMD|8883	OMIM|603385
IN-CTX-MGE2	UQCRB	0.662246259	0.000662434	Enzyme: Reductase	BrainSpLMD|7381;Eurexp|euxassay_002757|basal plate, dorsal root ganglion, epidermal component, lung, trigeminal V, vagus X, ventricular layer	OMIM|191330;HPO|7381|Autosomal recessive inheritance, Hypoglycemia, Metabolic acidosis
IN-CTX-MGE2	GID8	0.704741772	0.000662501	Unclassified	BrainSpLMD|54994	OMIM|611625
IN-CTX-MGE2	ATXN10	0.279749966	0.000694501	Unclassified	BrainSpLMD|25814	OMIM|611150;HPO|25814|Abnormal pyramidal signs, Abnormality of extrapyramidal motor function, Autosomal dominant inheritance, Cerebellar atrophy, Decreased nerve conduction velocity, Dementia, Depressivity, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysphagia, Gait ataxia, Genetic anticipation, Hyperreflexia, Incomplete penetrance, Incoordination, Limb ataxia, Morphological abnormality of the pyramidal tract, Nystagmus, Progressive cerebellar ataxia, Scanning speech, Seizures, Urinary incontinence, Urinary urgency
IN-CTX-MGE2	TPGS2	0.824266729	0.000774725	Unclassified	BrainSpLMD|25941;Eurexp|euxassay_005064|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, molar, neural retina, olfactory, respiratory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	
IN-CTX-MGE2	LSM3	0.642156582	0.000783675	RNA binding protein	BrainSpLMD|27258	OMIM|607283
IN-CTX-MGE2	RP11.296E7.1	0.565894461	0.000783899			
IN-CTX-MGE2	RIMS1	1.388496246	0.00082492	Transport/cargo protein	BrainSpLMD|22999	SFARI||Autism, 2 - Strong candidate;OMIM|606629;HPO|22999|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal dominant inheritance, Bull's eye maculopathy, Cone/cone-rod dystrophy, Nyctalopia, Photophobia, Retinal flecks, Visual impairment
IN-CTX-MGE2	BEX4	0.302648062	0.000909296	Adapter molecule	Eurexp|euxassay_006309|calyces, liver, lung, midgut, pancreas, rectum, stomach, submandibular gland primordium, urethra	OMIM|300692
IN-CTX-MGE2	LRCH2	0.986561033	0.000922362	Unclassified	BrainSpLMD|57631;Eurexp|euxassay_013951|anterior abdominal wall, bladder, brain, cortex, extrinsic, metanephros, spinal cord	
IN-CTX-MGE2	NPIPA8	1.154781323	0.000960003			
IN-CTX-MGE2	ZBTB21	0.613595625	0.000965605	Transcription regulatory protein	BrainSpLMD|49854	OMIM|616485
IN-CTX-MGE2	LRRC8B	1.097027582	0.000995758	Integral membrane protein	BrainSpLMD|23507	OMIM|612888
IN-CTX-MGE2	SP9	1.351075198	0.00099764		BrainSpLMD|100131390;BrainSpMouseDev|120188	
IN-CTX-MGE2	PSMB1	0.360982015	0.001059695	Ubiquitin proteasome system protein	BrainSpLMD|5689;Eurexp|euxassay_000097|cerebral cortex, dorsal root ganglion, integumental system, midbrain, nose, retina, rib, trigeminal V, vagus X	OMIM|602017
IN-CTX-MGE2	SGSM2	0.564640959	0.001089775	Unclassified	BrainSpLMD|9905	OMIM|611418
IN-CTX-MGE2	ANKRD13C	0.597736453	0.001093133	Unclassified	BrainSpLMD|81573;Eurexp|euxassay_013346|dorsal root ganglion, facial VII, glossopharyngeal IX, liver, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, vagus X	OMIM|615125
IN-CTX-MGE2	KIAA1598	0.82708721	0.001120951			
IN-CTX-MGE2	SMARCC1	0.557577137	0.001258414	Transcription factor	BrainSpLMD|6599	OMIM|601732
IN-CTX-MGE2	UQCR10	0.623298611	0.001287766	Enzyme: Oxidoreductase	BrainSpLMD|29796;Eurexp|euxassay_001948|Meckel's cartilage, adrenal gland, cortex, dorsal root ganglion, foregut-midgut junction, frontal bone primordium, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, ventral grey horn, vertebral axis muscle system, vibrissa	OMIM|610843
IN-CTX-MGE2	NIPSNAP1	0.396382321	0.001293684	Unclassified	BrainSpLMD|8508;Eurexp|euxassay_005226|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, liver, lung, metanephros, midgut, molar, spinal cord, stomach, submandibular gland primordium, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|603249
IN-CTX-MGE2	SNX27	0.307267053	0.001313873	Transport/cargo protein	BrainSpLMD|81609	OMIM|611541
IN-CTX-MGE2	SUGT1	0.267630003	0.001361613	Cell cycle control protein;Ubiquitin proteasome system protein	BrainSpLMD|10910	OMIM|604098
IN-CTX-MGE2	EEA1	0.506053461	0.001485445	Membrane transport protein	BrainSpLMD|8411	OMIM|605070
IN-CTX-MGE2	SSU72	0.474312831	0.001507359	Unclassified	BrainSpLMD|29101	OMIM|617680
IN-CTX-MGE2	ERO1LB	1.372267041	0.001508777			
IN-CTX-MGE2	KIF2A	0.983275002	0.001526689	Motor protein	BrainSpLMD|3796;Eurexp|euxassay_010580|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	OMIM|602591;HPO|3796|Autosomal dominant inheritance, Cortical dysplasia, Global developmental delay, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly, Pachygyria, Seizures, Spastic tetraplegia
IN-CTX-MGE2	GABRA2	1.585924697	0.001558479	Ion channel	BrainSpLMD|2555;Eurexp|euxassay_008366|mantle layer, marginal layer;BrainSpMouseDev|14171	OMIM|137140
IN-CTX-MGE2	FAM110B	0.602881718	0.001603933	Unclassified	BrainSpLMD|90362	OMIM|611394
IN-CTX-MGE2	SLIT2	1.240810021	0.001656518	Ligand	BrainSpLMD|9353;BrainSpMouseDev|20325	OMIM|603746
IN-CTX-MGE2	GNB5	1.454449183	0.001662123	G protein	BrainSpLMD|10681	OMIM|604447;HPO|10681|Abnormal electroretinogram, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Bradycardia, Delayed speech and language development, Generalized hypotonia, Global developmental delay, Intellectual disability, Nystagmus, Retinal degeneration, Sick sinus syndrome
IN-CTX-MGE2	HTATSF1	0.257725304	0.001689783	Transcription factor	BrainSpLMD|27336	OMIM|300346
IN-CTX-MGE2	NUP85	0.374527763	0.00172576	Anchor protein		OMIM|170285
IN-CTX-MGE2	TPRKB	0.54629505	0.001769478	Unclassified	BrainSpLMD|51002	OMIM|608680
IN-CTX-MGE2	MRPL21	0.772107942	0.00180219	Ribosomal subunit	BrainSpLMD|219927	OMIM|611834
IN-CTX-MGE2	HERC1	0.335394004	0.001807335	Membrane transport protein	BrainSpLMD|8925;Eurexp|euxassay_010717|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, mandible, maxilla, neural retina, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|605109;HPO|8925|Arachnodactyly, Autosomal recessive inheritance, Congenital onset, Downslanted palpebral fissures, Frontal bossing, Gait ataxia, Generalized hypotonia, Global developmental delay, High palate, Hyperlordosis, Hypertelorism, Intellectual disability, Joint laxity, Kyphosis, Large hands, Long face, Long foot, Long neck, Low-set ears, Macrocephaly, Macrotia, Malar flattening, Mandibular prognathia, Megalencephaly, Pes planus, Posteriorly rotated ears, Prominent forehead, Prominent nasal bridge, Proptosis, Scoliosis, Sparse eyebrow, Tall stature, Triangular face, Upslanted palpebral fissure, Ventriculomegaly
IN-CTX-MGE2	NMNAT2	0.981549453	0.001831615	Unclassified;Enzyme: Transferase	BrainSpLMD|23057;Eurexp|euxassay_007621|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, medulla oblongata, metencephalon, midbrain, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608701
IN-CTX-MGE2	GOLGB1	0.320871358	0.001858474	Structural protein	BrainSpLMD|2804	OMIM|602500
IN-CTX-MGE2	SRP9P1	0.430723663	0.001890751			
IN-CTX-MGE2	OIP5.AS1	0.412357248	0.001954391			
IN-CTX-MGE2	ZNF445	0.851220502	0.001960326	DNA binding protein	BrainSpLMD|353274;BrainSpMouseDev|88115	
IN-CTX-MGE2	GNG3	0.283942995	0.001974316	G protein	BrainSpLMD|2785;Eurexp|euxassay_010359|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608941
IN-CTX-MGE2	BUD31	0.808456308	0.002072414	Transcription regulatory protein	BrainSpLMD|8896	OMIM|603477
IN-CTX-MGE2	MRPS21	0.62685874	0.002079512	Ribosomal subunit	BrainSpLMD|54460	OMIM|611984
IN-CTX-MGE2	RBBP4	0.350485089	0.002228135	Transcription regulatory protein	BrainSpLMD|5928	OMIM|602923
IN-CTX-MGE2	SEMA6D	0.496599208	0.002238822	Membrane bound ligand	BrainSpLMD|80031;Eurexp|euxassay_010735|dorsal root ganglion, embryo, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|84750	OMIM|609295
IN-CTX-MGE2	MYCBP2	0.528675868	0.002255537	Transcription regulatory protein	BrainSpLMD|23077;Eurexp|euxassay_009485|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|69854	OMIM|610392
IN-CTX-MGE2	RNMT	0.873157641	0.002362328	RNA methyltransferase	BrainSpLMD|8731;Eurexp|euxassay_013666|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mandible, maxilla, metanephros, molar, testis, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|603514
IN-CTX-MGE2	LINC00599	1.225865116	0.002429136			
IN-CTX-MGE2	MSRA	0.490592586	0.00244454	Enzyme: Reductase	BrainSpLMD|4482	OMIM|601250
IN-CTX-MGE2	KIAA1211	0.800118066	0.002448558	Unclassified		
IN-CTX-MGE2	ATRX	0.264937986	0.002541406	Transcription regulatory protein	BrainSpLMD|546	SFARI||Autism, 4 - Minimal evidence;OMIM|300504;COSMIC||pancreatic neuroendocrine tumours, paediatric GBM, ATR-X (alpha thalassemia/mental retardation) syndrome;HPO|546|Abnormal hemoglobin, Abnormality of blood and blood-forming tissues, Abnormality of fontanelles, Abnormality of metabolism/homeostasis, Absent frontal sinuses, Ambiguous genitalia, Anteverted nares, Autism, Brachydactyly, Bruising susceptibility, Cerebral atrophy, Clinodactyly, Coarse facial features, Constipation, Coxa valga, Cryptorchidism, Decreased testicular size, Delayed skeletal maturation, Depressed nasal bridge, Depressed nasal ridge, Dolichocephaly, Drooling, Dysphasia, Dyspnea, Epicanthus, Everted lower lip vermilion, Exotropia, Fatigue, Flat face, Gastroesophageal reflux, Genu valgum, Global developmental delay, Hemivertebrae, Hemoglobin H, High palate, Hydronephrosis, Hyperactivity, Hyperreflexia, Hypertelorism, Hypochromic microcytic anemia, Hypogonadism, Hypoplasia of penis, Hypoplastic philtrum, Hypospadias, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Kyphoscoliosis, Low-set ears, Lower limb hypertonia, Macroglossia, Malar flattening, Male pseudohermaphroditism, Microcephaly, Microcytic anemia, Micrognathia, Micropenis, Microtia, Midface retrusion, Muscular hypotonia, Myelodysplasia, Narrow forehead, Neutropenia, Open mouth, Optic atrophy, Paroxysmal bursts of laughter, Perimembranous ventricular septal defect, Pes planus, Phenotypic variability, Posteriorly rotated ears, Postnatal growth retardation, Profound global developmental delay, Protruding tongue, Ptosis, Radial deviation of finger, Reduced alpha/beta synthesis ratio, Renal agenesis, Renal hypoplasia, Scrotal hypoplasia, Seizures, Sensorineural hearing impairment, Shawl scrotum, Short neck, Short nose, Short stature, Short upper lip, Slender finger, Spasticity, Talipes calcaneovalgus, Talipes equinovarus, Tapered finger, Telecanthus, Tented upper lip vermilion, Thick lower lip vermilion, Thin upper lip vermilion, Thrombocytopenia, Triangular nasal tip, U-Shaped upper lip vermilion, Umbilical hernia, Upslanted palpebral fissure, Vesicoureteral reflux, Vomiting, Wide mouth, Wide nasal bridge, Widely-spaced maxillary central incisors, X-linked dominant inheritance, X-linked recessive inheritance
IN-CTX-MGE2	PPIP5K2	0.347637409	0.002556673	Unclassified	BrainSpLMD|23262;Eurexp|euxassay_012441|dorsal root ganglion, ductus deferens, excretory component, facial VII, glossopharyngeal IX, hindgut, incisor, lens, mantle layer, midgut, molar, neural retina, olfactory, pancreas, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|611648
IN-CTX-MGE2	PSMC6	0.320397682	0.002650096	Ubiquitin proteasome system protein	Eurexp|euxassay_009531|thymus primordium	OMIM|602708
IN-CTX-MGE2	FNBP1	1.0146712	0.002689328	Unclassified	BrainSpLMD|23048;Eurexp|euxassay_002195|bladder, diencephalon, dorsal root ganglion, hindbrain, midbrain, spinal cord, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|606191;COSMIC||AML
IN-CTX-MGE2	ANKRD50	1.102861769	0.002692276	Unclassified	BrainSpLMD|57182	
IN-CTX-MGE2	PDHA1	0.58216878	0.002791803	Enzyme: Dehydrogenase	BrainSpLMD|5160	OMIM|300502;HPO|5160|Abnormality of eye movement, Agenesis of corpus callosum, Anteverted nares, Apneic episodes precipitated by illness, fatigue, stress, Basal ganglia cysts, Cerebral atrophy, Choreoathetosis, Chronic lactic acidosis, Decreased activity of the pyruvate dehydrogenase complex, Dystonia, Episodic ataxia, Flared nostrils, Frontal bossing, Generalized hypotonia, Global developmental delay, Hyperalaninemia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lethargy, Long philtrum, Microcephaly, Phenotypic variability, Ptosis, Seizures, Severe lactic acidosis, Small for gestational age, Ventriculomegaly, Wide nasal bridge, X-linked dominant inheritance
IN-CTX-MGE2	UBQLN1	0.420438234	0.002796425	Ubiquitin proteasome system protein	BrainSpLMD|29979	OMIM|605046
IN-CTX-MGE2	TTC14	0.483744268	0.002797463	Unclassified	BrainSpLMD|151613	
IN-CTX-MGE2	TMEM59	0.536384327	0.002826963	Unclassified	BrainSpLMD|9528;Eurexp|euxassay_008205|alveolar sulcus, axial skeleton, basal columns, clavicle, femur, floor plate, floorplate, mandible, mantle layer, maxilla, olfactory, orbito-sphenoid, pituitary, rib, stomach	OMIM|617084
IN-CTX-MGE2	DCAF8	0.369146372	0.002866387	Unclassified	BrainSpLMD|50717	OMIM|615820;HPO|50717|Areflexia, Autosomal dominant inheritance, Cardiomyopathy, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, EMG: chronic denervation signs, Hammertoe, Hyporeflexia, Impaired distal tactile sensation, Impaired distal vibration sensation, Onion bulb formation, Peripheral axonal neuropathy, Pes cavus, Steppage gait
IN-CTX-MGE2	OCIAD2	0.726903859	0.003079545	Unclassified	BrainSpLMD|132299	
IN-CTX-MGE2	RASAL2	0.733176457	0.003168818	GTPase	BrainSpLMD|9462;Eurexp|euxassay_014140|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, trigeminal V, turbinate bones, vagus X, ventricular layer, vomeronasal organ	OMIM|606136
IN-CTX-MGE2	BNIP2	0.49120845	0.003246664	GTPase activating protein	BrainSpLMD|663	OMIM|603292
IN-CTX-MGE2	TSPAN3	0.369415792	0.003270256	Integral membrane protein	BrainSpLMD|10099;Eurexp|euxassay_011791|axial skeleton, basioccipital bone, basisphenoid bone, naris, nasal septum, orbito-sphenoid, otic capsule, petrous part, rib, turbinate bones	OMIM|613134
IN-CTX-MGE2	PSMD14	0.283946726	0.003474516	Ubiquitin proteasome system protein	BrainSpLMD|10213	OMIM|607173
IN-CTX-MGE2	CCT7	0.26829072	0.003512656	Chaperone	BrainSpLMD|10574	OMIM|605140
IN-CTX-MGE2	PDCD5	0.432984811	0.003617846	Unclassified	BrainSpLMD|9141	OMIM|604583
IN-CTX-MGE2	RIMS2	0.690722552	0.003641371	Unclassified	BrainSpLMD|9699	OMIM|606630
IN-CTX-MGE2	ADD1	0.868421846	0.003735948	Structural protein	BrainSpLMD|118	OMIM|102680
IN-CTX-MGE2	OTUD6B.AS1	0.323650756	0.003781403			
IN-CTX-MGE2	BRD2	0.533087326	0.003804265	Transcription regulatory protein	BrainSpLMD|6046;Eurexp|euxassay_012809|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mandible, mantle layer, maxilla, orbito-sphenoid, submandibular gland primordium, trigeminal V, vagus X	OMIM|601540
IN-CTX-MGE2	CLINT1	0.684366742	0.003903446	Transport/cargo protein	BrainSpLMD|9685;Eurexp|euxassay_011314|basioccipital bone, basisphenoid bone, clavicle, cortex, cricoid, liver, mandible, maxilla, midgut, naris, orbito-sphenoid, otic capsule, petrous part, rectum, rib, sternum, sublingual gland primordium, submandibular gland primordium, temporal bone, thyroid, turbinate bones, valve, vault of skull	OMIM|607265
IN-CTX-MGE2	STAU2	0.463860639	0.003909973	RNA binding protein	BrainSpLMD|27067;Eurexp|euxassay_011484|cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605920
IN-CTX-MGE2	STAG1	0.271344029	0.004053897	Cell cycle control protein	BrainSpLMD|10274	SFARI||Autism, No category;OMIM|604358;COSMIC||colorectal cancer, AML
IN-CTX-MGE2	ARL4C	0.7901472	0.004129753	GTPase	BrainSpLMD|10123;Eurexp|euxassay_016423|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII	OMIM|604787
IN-CTX-MGE2	VPS36	0.572170257	0.004167433	Unclassified	BrainSpLMD|51028	OMIM|610903
IN-CTX-MGE2	MIB1	0.376122443	0.004169919	Ubiquitin proteasome system protein	BrainSpLMD|57534;Eurexp|euxassay_013905|glossopharyngeal IX, mantle layer, molar, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|86214	SFARI||Autism, 4 - Minimal evidence;OMIM|608677;HPO|57534|Autosomal dominant inheritance, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy
IN-CTX-MGE2	AKAP7	0.607652494	0.004192335	Anchor protein	BrainSpLMD|9465	OMIM|604693
IN-CTX-MGE2	JARID2	0.954792313	0.004275493	DNA binding protein	BrainSpLMD|3720	SFARI||Autism, No category;OMIM|601594
IN-CTX-MGE2	DDX6	0.760775303	0.004296559	RNA binding protein	BrainSpLMD|1656	OMIM|600326;COSMIC||B-NHL
IN-CTX-MGE2	HIP1R	0.657391851	0.004313227	Cytoskeletal associated protein	BrainSpLMD|9026;Eurexp|euxassay_012046|basisphenoid bone, clavicle, dorsal root ganglion, epidermis, epithelium, exoccipital bone, facial VII, fibula, fundus region, glossopharyngeal IX, incisor, larynx, lobe, mantle layer, metanephros, metatarsus, midgut, molar, naris, neural retina, oesophagus, olfactory, orbito-sphenoid, pancreas, petrous part, pharyngo-tympanic tube, pituitary, rectum, rib, stomach, submandibular gland primordium, tarsus, temporal bone, thymus primordium, thyroid, tibia, trachea, trigeminal V, turbinate, urethra, vibrissa	OMIM|605613
IN-CTX-MGE2	ERP44	0.283090904	0.004386596	Unclassified	BrainSpLMD|23071;Eurexp|euxassay_001975|Meckel's cartilage, incisor, molar, orbito-sphenoid	OMIM|609170
IN-CTX-MGE2	NARF	0.407510998	0.004395536	Unclassified	BrainSpLMD|26502;Eurexp|euxassay_013636|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, lobe, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|605349
IN-CTX-MGE2	AGPAT4	1.140959815	0.004507055	Enzyme: Acyltransferase	BrainSpLMD|56895	OMIM|614795
IN-CTX-MGE2	NCAM1	0.453789525	0.004527983	Adhesion molecule	BrainSpLMD|4684;Eurexp|euxassay_014138|bladder, brain, cervical, cervico-thoracic, cortex, dermal component, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, pericardial cavity, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, ureter, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17734	OMIM|116930
IN-CTX-MGE2	DCAF10	0.637250291	0.004545195	Unclassified	BrainSpLMD|79269	
IN-CTX-MGE2	ADAM10	0.371552175	0.004552535	Metallo protease	BrainSpLMD|102;Eurexp|euxassay_007598|anterior, dorsal root ganglion, epithelium, external, facial VII, glossopharyngeal IX, inner ear, lens, liver, naso-lacrimal duct, neural retina, olfactory, pectoral girdle and thoracic body wall, trigeminal V, vagus X;BrainSpMouseDev|11275	OMIM|602192;HPO|102|Autosomal dominant inheritance
IN-CTX-MGE2	FHL1	0.935445109	0.004640553	Unclassified	BrainSpLMD|2273;Eurexp|euxassay_018418|bladder, brain, diaphragm, dorsal root ganglion, head mesenchyme, limb, penis, rectum, spinal cord, tongue, vertebral axis muscle system	OMIM|300163;HPO|2273|Adult onset, Areflexia, Arrhythmia, Back pain, Elevated serum creatine phosphokinase, Flexion contracture, Foot dorsiflexor weakness, Frequent falls, Hyperlordosis, Hypertrophic cardiomyopathy, Hyporeflexia, Increased variability in muscle fiber diameter, Kyphosis, Lower limb muscle weakness, Myofibrillar myopathy, Progressive, Proximal muscle weakness, Rapidly progressive, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Rimmed vacuoles, Scapular winging, Scapuloperoneal myopathy, Scapuloperoneal weakness, Scoliosis, Short neck, Skeletal muscle atrophy, Spinal rigidity, Steppage gait, Waddling gait, X-linked dominant inheritance, X-linked inheritance, X-linked recessive inheritance
IN-CTX-MGE2	NRCAM	0.418027559	0.00466425	Adhesion molecule	BrainSpLMD|4897;BrainSpMouseDev|106439	SFARI||Autism, 4 - Minimal evidence;OMIM|601581
IN-CTX-MGE2	SRSF2	0.329211488	0.004796378	Ribonucleoprotein	BrainSpLMD|6427	OMIM|600813;COSMIC||MDS, CLL
IN-CTX-MGE2	HDAC9	0.293154853	0.004972551	Transcription regulatory protein	BrainSpLMD|9734	OMIM|606543
IN-CTX-MGE2	DBN1	0.88656735	0.005001579	Cytoskeletal associated protein	BrainSpLMD|1627	OMIM|126660
IN-CTX-MGE2	PFN2	0.255881582	0.005180333	Structural protein	BrainSpLMD|5217;Eurexp|euxassay_002518|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|176590
IN-CTX-MGE2	FUS	0.447904376	0.005224991	RNA binding protein	BrainSpLMD|2521	OMIM|137070;COSMIC||liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma;HPO|2521|Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Decreased muscle mass, Depressivity, Dysarthria, Dyspnea, EMG abnormality, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Gait disturbance, Generalized muscle weakness, Hyperreflexia, Hyporeflexia, Muscle cramps, Neurodegeneration, Neuronal loss in central nervous system, Pain, Paralysis, Postural tremor, Proximal amyotrophy, Pseudobulbar behavioral symptoms, Respiratory failure, Skeletal muscle atrophy, Spasticity, Subcutaneous nodule, Xerostomia
IN-CTX-MGE2	PSIP1	0.407384351	0.00545428	Transcription regulatory protein	BrainSpLMD|11168;Eurexp|euxassay_008131|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, trigeminal V, vagus X, vibrissa, vomeronasal organ	OMIM|603620;COSMIC||AML
IN-CTX-MGE2	CASP2	0.262169917	0.005497145	Cysteine protease	BrainSpLMD|835	OMIM|600639
IN-CTX-MGE2	PAK1IP1	0.337213913	0.005530307	Cytoskeletal associated protein	BrainSpLMD|55003;Eurexp|euxassay_000585|chondrocranium, lobe	OMIM|607811
IN-CTX-MGE2	UBE4B	0.372378085	0.005887962	Ubiquitin proteasome system protein	BrainSpLMD|10277	OMIM|613565
IN-CTX-MGE2	CDC123	0.565900522	0.005944522	Cell cycle control protein	BrainSpLMD|8872	OMIM|617708
IN-CTX-MGE2	UBXN2B	0.554940517	0.006052489	Unclassified		OMIM|610686
IN-CTX-MGE2	ZC3H13	0.416523862	0.006077423	Transcription regulatory protein	BrainSpLMD|23091	OMIM|616453
IN-CTX-MGE2	KIAA1109	0.432740195	0.006088861	Unclassified	BrainSpLMD|84162	OMIM|611565
IN-CTX-MGE2	ACOX1	1.085934768	0.006189228	Enzyme: Oxidase	BrainSpLMD|51;Eurexp|euxassay_018548|dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, trigeminal V, vagus X, ventricular layer	OMIM|609751;HPO|51|Abnormal electroretinogram, Abnormality of metabolism/homeostasis, Abnormality of nervous system morphology, Abnormality of visual evoked potentials, Autosomal recessive inheritance, Babinski sign, Bilateral sensorineural hearing impairment, Brachycephaly, CNS demyelination, Death in infancy, Decreased light- and dark-adapted electroretinogram amplitude, Depressed nasal bridge, Developmental regression, Diffuse hepatic steatosis, Dysphagia, Dystonia, EEG abnormality, Elevated hepatic transaminases, Epicanthus, Failure to thrive, Frontal bossing, Gait disturbance, Global developmental delay, Hepatomegaly, Hyperreflexia, Hypertelorism, Hypertonia, Hypodontia, Infantile onset, Intellectual disability, progressive, Intellectual disability, severe, Inverted nipples, Irritability, Leukodystrophy, Low-set ears, Muscular hypotonia, Myopia, Neonatal hypotonia, Neurological speech impairment, No social interaction, Nystagmus, Optic atrophy, Pigmentary retinopathy, Respiratory insufficiency, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Strabismus, Tapetoretinal degeneration, Wide nasal bridge
IN-CTX-MGE2	SH3GLB1	0.538962026	0.006481975	Enzyme: Acyltransferase	BrainSpLMD|51100	OMIM|609287
IN-CTX-MGE2	FAM214A	0.372599002	0.006637252	Unclassified	Eurexp|euxassay_003223|Meckel's cartilage, adrenal gland, incisor, mesenchyme, molar, pituitary, rib, testis	
IN-CTX-MGE2	CDC42BPA	0.81436642	0.006650241	Serine/threonine kinase	BrainSpLMD|8476	OMIM|603412
IN-CTX-MGE2	PTBP3	0.833889648	0.006687419	RNA binding protein	BrainSpLMD|9991;Eurexp|euxassay_001898|cortex, liver, lobe, olfactory, pelvis, thymus primordium, trigeminal V, vibrissa	OMIM|607527
IN-CTX-MGE2	PPP1R12A	0.525772469	0.006885846	Regulatory/other subunit	BrainSpLMD|4659	OMIM|602021
IN-CTX-MGE2	AP3M1	0.379091587	0.006944915	Transport/cargo protein	BrainSpLMD|26985	OMIM|610366
IN-CTX-MGE2	UQCRH	0.61032897	0.006997057	Enzyme: Reductase	Eurexp|euxassay_006525|anterior, axial skeleton, bladder, brain, cortex, epidermis, epithelium, external, footplate, handplate, incisor, inner ear, integumental system, left lung, liver, metanephros, midgut, molar, naso-lacrimal duct, olfactory, pancreas, paraxial mesenchyme, pharyngo-tympanic tube, posterior, rectum, renal/urinary system, rest of mesenchyme, rest of skin, retina, right lung, skeletal muscle, spinal cord, stomach, submandibular gland primordium, thymus primordium, trachea, urethra, vertebral axis muscle system, vibrissa	OMIM|613844
IN-CTX-MGE2	SNRPN	0.509600605	0.007311894	Ribonucleoprotein	BrainSpLMD|6638;Eurexp|euxassay_015728|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, hindgut, incisor, midbrain, midgut, neural retina, olfactory, penis, respiratory, spinal cord, stomach, stroma, submandibular gland primordium, telencephalon, testis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	SFARI||Autism, 5 - Hypothesized but untested;OMIM|182279;HPO|6638|Abdominal obesity, Almond-shaped palpebral fissure, Attention deficit hyperactivity disorder, Autism, Childhood onset, Clinodactyly, Clitoral hypoplasia, Cutaneous photosensitivity, Decreased fetal movement, Decreased muscle mass, Delayed puberty, Delayed speech and language development, Dolichocephaly, Downturned corners of mouth, EEG abnormality, Failure to thrive in infancy, Generalized hypopigmentation, Generalized hypotonia, Global developmental delay, Growth hormone deficiency, Heterogeneous, Hyperinsulinemia, Hypermetropia, Hypogonadotrophic hypogonadism, Hypoplastic labia minora, Hypoventilation, Impaired ability to form peer relationships, Impaired pain sensation, Impaired use of nonverbal behaviors, Increased serum serotonin, Infertility, Inflexible adherence to routines or rituals, Intellectual disability, Kyphosis, Lack of spontaneous play, Micropenis, Motor delay, Multifactorial inheritance, Narrow forehead, Narrow nasal bridge, Narrow palm, Nasal speech, Obesity, Oligomenorrhea, Polyphagia, Poor gross motor coordination, Poor suck, Recurrent respiratory infections, Restrictive behavior, Scoliosis, Seizures, Short foot, Short palm, Short stature, Sleep apnea, Small hand, Specific learning disability, Sporadic, Stereotypy, Thin upper lip vermilion, Ventriculomegaly
IN-CTX-MGE2	KIF20B	0.295649705	0.007472795	Cell cycle control protein	BrainSpLMD|9585	OMIM|605498
IN-CTX-MGE2	VGLL4	0.674877753	0.007573174	Transcription regulatory protein	BrainSpLMD|9686;Eurexp|euxassay_000238|incisor, lung, molar, submandibular gland primordium, vibrissa	
IN-CTX-MGE2	C14orf2	0.464439022	0.007823541			
IN-CTX-MGE2	EFR3B	0.549848111	0.007976214	Unclassified	BrainSpLMD|22979	OMIM|616797
IN-CTX-MGE2	CEP170	0.265113108	0.008301443	Unclassified	BrainSpLMD|9859	OMIM|613023
IN-CTX-MGE2	CREBBP	0.419912883	0.008304324	Transcription regulatory protein	BrainSpLMD|1387;BrainSpMouseDev|12697	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600140;COSMIC||ALL, AML, DLBCL, B-NHL, Rubinstein-Taybi syndrome;HPO|1387|Abnormal number of teeth, Abnormality of refraction, Abnormality of the cervical spine, Abnormality of the cornea, Abnormality of the kidney, Abnormality of the pinna, Aganglionic megacolon, Agenesis of corpus callosum, Agoraphobia, Arrhythmia, Atrial septal defect, Autism, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Bifid uterus, Bimanual synkinesia, Broad hallux, Broad thumb, Cafe-au-lait spot, Capillary hemangiomas, Cataract, Chorioretinal dystrophy, Clinodactyly of the 5th finger, Coloboma, Constipation, Convex nasal ridge, Cryptorchidism, Deeply set eye, Delayed cranial suture closure, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Dental malocclusion, Deviated nasal septum, Dislocated radial head, Downslanted palpebral fissures, Duane anomaly, Duplication of phalanx of hallux, EEG abnormality, Epicanthus, Facial grimacing, Failure to thrive, Feeding difficulties in infancy, Flared iliac wings, Flexion contracture, Frontal bossing, Frontal upsweep of hair, Generalized hypotonia, Glaucoma, Hearing impairment, Heterogeneous, High axial triradius, High palate, Highly arched eyebrow, Hirsutism, Hyperactivity, Hyperreflexia, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Hypoplastic iliac wing, Hypospadias, Impulsivity, Intellectual disability, Joint hypermobility, Joint laxity, Keloids, Large foramen magnum, Laryngomalacia, Long eyelashes, Low anterior hairline, Low hanging columella, Low posterior hairline, Low-set ears, Microcephaly, Micrognathia, Muscular hypotonia, Narrow mouth, Narrow palate, Nasolacrimal duct obstruction, Obstructive sleep apnea, Papillary cystadenoma of the epididymis, Parietal foramina, Patellar dislocation, Patent ductus arteriosus, Pectus excavatum, Pes planus, Phonophobia, Plantar crease between first and second toes, Polydactyly, Polyhydramnios, Poor coordination, Postnatal growth retardation, Premature thelarche, Prominent fingertip pads, Proptosis, Ptosis, Radial deviation of thumb terminal phalanx, Recurrent upper respiratory tract infections, Respiratory distress, Retrognathia, Scoliosis, Seizures, Self-mutilation, Shawl scrotum, Short attention span, Short stature, Single transverse palmar crease, Spina bifida occulta, Sporadic, Stereotypy, Strabismus, Syndactyly, Talon cusp, Tethered cord, Thick eyebrow, Truncal obesity, Unsteady gait, Variable expressivity, Vascular ring, Ventricular septal defect, Wide anterior fontanel, Wide nasal bridge
IN-CTX-MGE2	CCNG2	0.472499914	0.008395675	Cell cycle control protein	BrainSpLMD|901;Eurexp|euxassay_007291|embryo	OMIM|603203
IN-CTX-MGE2	TERF1	0.673139992	0.008403058	DNA binding protein	BrainSpLMD|7013	OMIM|600951
IN-CTX-MGE2	RWDD1	0.828955418	0.008462501	Unclassified	BrainSpLMD|51389	
IN-CTX-MGE2	NPIPB4	0.271612768	0.008498575			
IN-CTX-MGE2	PTPRO	0.279034375	0.008554914	Receptor tyrosine phosphatase	BrainSpLMD|5800;Eurexp|euxassay_000528|cerebral cortex, corpus striatum, hypothalamus, lateral wall, marginal layer, olfactory cortex, testis	OMIM|600579;HPO|5800|Autosomal recessive inheritance, Edema, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Variable expressivity
IN-CTX-MGE2	DDB1	0.277271318	0.008571313	DNA binding protein	BrainSpLMD|1642	OMIM|600045
IN-CTX-MGE2	PIP4K2B	0.454383889	0.008970241	Lipid Kinase	BrainSpLMD|8396;Eurexp|euxassay_004158|diencephalon, mandible, olfactory, petrous part, telencephalon, ventricular layer	OMIM|603261
IN-CTX-MGE2	CCT6P3	1.036448541	0.009023737			
IN-CTX-MGE2	RAD23B	0.907442373	0.009037138	DNA repair protein	BrainSpLMD|5887	OMIM|600062
IN-CTX-MGE2	TTC21B	0.993772294	0.009070518	Unclassified	BrainSpLMD|79809	OMIM|612014;HPO|79809|Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Autosomal dominant inheritance, Autosomal recessive inheritance, Brachydactyly, Cone-shaped epiphysis, Micromelia, Narrow chest, Nephronophthisis, Respiratory insufficiency, Retinal degeneration, Short foot, Short long bone, Short ribs, Short stature, Short thorax, Skeletal dysplasia, Stage 5 chronic kidney disease
IN-CTX-MGE2	XRN1	0.400112222	0.009098346	Ribonuclease	BrainSpLMD|54464	OMIM|607994
IN-CTX-MGE2	AKAP9	0.597104025	0.009108741	Adapter molecule	BrainSpLMD|10142;Eurexp|euxassay_007743|embryo	SFARI||Autism, 3 - Suggestive evidence;OMIM|604001;COSMIC||papillary thyroid;HPO|10142|Autosomal dominant inheritance, Prolonged QT interval, Syncope
IN-CTX-MGE2	TMEM106B	0.677912564	0.009153034	Unclassified	BrainSpLMD|54664	OMIM|613413;HPO|54664|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Aggressive behavior, Alexia, Anxiety, Apraxia, Collectionism, Depressivity, Disinhibition, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, EEG with continuous slow activity, Echolalia, Emotional blunting, Frontotemporal cerebral atrophy, Frontotemporal dementia, Grammar-specific speech disorder, Hyperorality, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Perseveration, Personality changes, Poor speech, Restlessness, Restrictive behavior, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold
IN-CTX-MGE2	NPIPB3	0.351907776	0.009354928	Unclassified	BrainSpLMD|23117	
IN-CTX-MGE2	ZCCHC10	0.634548807	0.009597069	Unclassified	BrainSpLMD|54819	
IN-CTX-MGE2	ATXN1	0.398488559	0.009662019	RNA binding protein	BrainSpLMD|6310;BrainSpMouseDev|20001	OMIM|601556;HPO|6310|Abnormality of extrapyramidal motor function, Adult onset, Areflexia, Autosomal dominant inheritance, Babinski sign, Bulbar palsy, Chorea, Cognitive impairment, Dilated fourth ventricle, Distal amyotrophy, Dorsal column degeneration, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Dysphagia, Gaze-evoked nystagmus, Generalized hypotonia, Genetic anticipation with paternal anticipation bias, Hyperreflexia, Impaired horizontal smooth pursuit, Impaired vibratory sensation, Limb ataxia, Olivopontocerebellar atrophy, Optic atrophy, Optic disc pallor, Progressive cerebellar ataxia, Scanning speech, Slow saccadic eye movements, Spasticity, Spinocerebellar atrophy, Spinocerebellar tract degeneration, Supranuclear ophthalmoplegia, Truncal ataxia, Urinary bladder sphincter dysfunction
IN-CTX-MGE2	FOXK2	0.577434913	0.009711748	Transcription factor;DNA binding protein	BrainSpLMD|3607;BrainSpMouseDev|44679	OMIM|147685
IN-CTX-MGE2	MPRIP.AS1	0.67263092	0.00995694			
IPC-nEN1	NEUROD4	3.152003021	0	Transcription factor	BrainSpLMD|58158;Eurexp|euxassay_019457|intermediate grey horn, lung, neural retina, pineal primordium, pituitary, ventricular layer;BrainSpMouseDev|11709	OMIM|611635
IPC-nEN1	EOMES	2.777247504	0	Transcription factor	BrainSpLMD|8320;BrainSpMouseDev|13591	OMIM|604615
IPC-nEN1	NHLH1	2.662449575	0	Transcription factor	BrainSpLMD|4807;Eurexp|euxassay_003709|dorsal root ganglion, glossopharyngeal IX, marginal layer, meninges, neural retina, olfactory, stroma, trigeminal V, ventricular layer;BrainSpMouseDev|17838	OMIM|162360
IPC-nEN1	PPP1R17	2.553720286	0	Unclassified	BrainSpLMD|10842;Eurexp|euxassay_003055|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, stroma, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|604088
IPC-nEN1	SSTR2	2.368852186	0	G protein coupled receptor	BrainSpLMD|6752;BrainSpMouseDev|20368	OMIM|182452
IPC-nEN1	CA12	2.302665021	0	Enzyme: Carbonic anhydrase	BrainSpLMD|771;Eurexp|euxassay_018906|choroid plexus, clavicle, epithelium, incisor, molar, nasal septum, olfactory, oral epithelium, submandibular gland primordium, vibrissa	OMIM|603263;HPO|771|Autosomal dominant inheritance, Autosomal recessive inheritance, Dehydration, Failure to thrive, Feeding difficulties, Hyperkalemia, Hyponatremia, Infantile onset
IPC-nEN1	TMEM158	2.015724533	0	Unclassified	BrainSpLMD|25907	
IPC-nEN1	PENK	1.880386604	0	Peptide hormone	BrainSpLMD|5179;BrainSpMouseDev|18385	OMIM|131330
IPC-nEN1	HNRNPA1P41	1.695853591	0			
IPC-nEN1	SEZ6	1.560128878	0	Integral membrane protein	BrainSpLMD|124925	OMIM|616666
IPC-nEN1	LRP8	1.399405896	0	Cell surface receptor	BrainSpLMD|7804;BrainSpMouseDev|16745	OMIM|602600
IPC-nEN1	HES6	1.27375672	0	Transcription regulatory protein	BrainSpLMD|55502;Eurexp|euxassay_018314|head mesenchyme, marginal layer, mesenchyme, molar, neural retina, olfactory, respiratory, retina, skeletal muscle, thymus primordium, trachea, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|35214	OMIM|610331
IPC-nEN1	LINC00478	0.985911052	0			
IPC-nEN1	RASGEF1B	0.967958429	0	Guanine nucleotide exchange factor	BrainSpLMD|153020;Eurexp|euxassay_003547|basal plate, mantle layer, marginal layer, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|614532
IPC-nEN1	CASC15	0.947660745	0			OMIM|616610
IPC-nEN1	MLLT3	0.945016262	0	Unclassified	BrainSpLMD|4300;Eurexp|euxassay_008130|adrenal gland, brain, ear, epithelium, hindgut, incisor, inner ear, lobe, metatarsus, molar, penis, rectum, rib, spinal cord, submandibular gland primordium, vibrissa	OMIM|159558;COSMIC||ALL
IPC-nEN1	NFIA	0.934431674	0	Transcription factor	BrainSpLMD|4774;BrainSpMouseDev|17794	SFARI||Autism, 4 - Minimal evidence;OMIM|600727;HPO|4774|Agenesis of corpus callosum, Anteverted nares, Arnold-Chiari type I malformation, Broad face, Broad forehead, Cognitive impairment, Cutis marmorata, Generalized hypotonia, Global developmental delay, Hydronephrosis, Hypoplasia of the corpus callosum, Inguinal hernia, Intellectual disability, Low-set ears, Macrocephaly, Narrow mouth, Phenotypic variability, Renal hypoplasia, Seizures, Short chin, Short nose, Sporadic, Syringomyelia, Thin upper lip vermilion, Ventriculomegaly, Vesicoureteral reflux
IPC-nEN1	CCND2	0.91613872	0	Cell cycle control protein	BrainSpLMD|894	OMIM|123833;COSMIC||NHL, CLL;HPO|894|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Congenital onset, Depressed nasal bridge, Global developmental delay, High forehead, Hydrocephalus, Hypertelorism, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Prominent forehead, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
IPC-nEN1	PTPRS	0.61750493	0	Receptor tyrosine phosphatase	BrainSpLMD|5802;Eurexp|euxassay_009779|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|601576
IPC-nEN1	NFIB	0.475995647	0	Transcription factor	BrainSpLMD|4781;BrainSpMouseDev|17795	OMIM|600728;COSMIC||adenoid cystic carcinoma, lipoma
IPC-nEN1	SOX11	0.427317974	0	Transcription factor	BrainSpLMD|6664;BrainSpMouseDev|20428	OMIM|600898;HPO|6664|Abnormal facial shape, Abnormality of cardiovascular system morphology, Abnormality of the columella, Abnormality of the dentition, Abnormality of the nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Autosomal dominant inheritance, Clinodactyly, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Everted lower lip vermilion, Feeding difficulties in infancy, Full cheeks, Generalized hirsutism, Global developmental delay, Hearing impairment, Highly arched eyebrow, Hypertrichosis, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Long nose, Low-set ears, Microcephaly, Midface retrusion, Muscular hypotonia, Nystagmus, Open mouth, Posteriorly rotated ears, Recurrent respiratory infections, Scoliosis, Seizures, Short chin, Short distal phalanx of finger, Short nose, Short palpebral fissure, Short philtrum, Short stature, Slow-growing hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick vermilion border, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Wide mouth, Wide nasal bridge
IPC-nEN1	SOX4	0.263119256	0	Transcription factor	BrainSpLMD|6659;Eurexp|euxassay_019583|cervical, cervico-thoracic, dorsal grey horn, dorsal root ganglion, incisor, lung, mantle layer, mesenchyme, metanephros, molar, neural retina, oesophagus, phalanx, submandibular gland primordium, testis, trachea, valve, vibrissa;BrainSpMouseDev|20439	OMIM|184430
IPC-nEN1	ELAVL2	1.165725821	8.88E-16	RNA binding protein	BrainSpLMD|1993;Eurexp|euxassay_005246|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, oesophagus, olfactory, pharynx, respiratory, retina, spinal cord, stomach, testis, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|601673
IPC-nEN1	TENM4	1.319671129	2.33E-15	Cell surface receptor		OMIM|610084;HPO|26011|Age-dependent penetrance, Autosomal dominant inheritance, Intention tremor, Postural tremor, Slow progression, Variable expressivity
IPC-nEN1	CORO1C	1.331868095	2.55E-15	Cytoskeletal associated protein	BrainSpLMD|23603	OMIM|605269
IPC-nEN1	SETD7	1.11421116	6.44E-15	Enzyme: Methyltransferase	BrainSpLMD|80854;BrainSpMouseDev|49092	OMIM|606594
IPC-nEN1	NRN1	1.702201794	1.74E-14	Secreted polypeptide	BrainSpLMD|51299;Eurexp|euxassay_003207|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lobe, mantle layer, marginal layer, mesenchyme, midgut, penis, physiological umbilical hernia, rectum, stroma, trigeminal V, urethra, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|44246	OMIM|607409
IPC-nEN1	CNR1	1.414037497	2.58E-14	G protein coupled receptor	BrainSpLMD|1268;BrainSpMouseDev|12584	SFARI||Autism, 3 - Suggestive evidence;OMIM|114610
IPC-nEN1	PRDX1	0.979978509	7.17E-14	Enzyme: Peroxidase	BrainSpLMD|5052	OMIM|176763
IPC-nEN1	EZR	0.940544214	7.95E-14	Anchor protein	BrainSpLMD|7430;Eurexp|euxassay_018306|axial skeleton, calyces, choroid plexus, cochlea, dorsal root ganglion, epidermis, epithelium, fundus region, hindgut, incisor, larynx, lens, lobe, lung, marginal layer, midgut, molar, oesophagus, oral epithelium, pelvis, penis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, rib, saccule, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricle, ventricular layer, vibrissa	OMIM|123900;COSMIC||NSCLC
IPC-nEN1	UNC5D	0.67318699	2.86E-13	Unclassified	BrainSpLMD|137970;Eurexp|euxassay_012466|basal plate, clavicle, incisor, lip, mantle layer, molar, palatal shelf, respiratory, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|84240	OMIM|616466
IPC-nEN1	TTYH2	2.593658002	4.71E-13	Unclassified	BrainSpLMD|94015;Eurexp|euxassay_010129|brain, meninges, mesenchyme, spinal cord, ventricular layer	OMIM|608855
IPC-nEN1	ENC1	0.626036602	8.72E-13	Structural protein	BrainSpLMD|8507;BrainSpMouseDev|13581	OMIM|605173
IPC-nEN1	BICD1	1.015637723	2.75E-12	Transport/cargo protein	BrainSpLMD|636;Eurexp|euxassay_001764|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|11907	OMIM|602204
IPC-nEN1	PTCHD2	1.311872937	3.70E-12			
IPC-nEN1	SCRT2	1.746626357	1.22E-11	Transcription regulatory protein	BrainSpLMD|85508;Eurexp|euxassay_016519|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, ventricular layer, vestibulocochlear VIII	
IPC-nEN1	ZNF423	1.608657901	1.24E-11	DNA binding protein	BrainSpLMD|23090	OMIM|604557;HPO|23090|Apnea, Ataxia, Autistic behavior, Autosomal dominant inheritance, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Global developmental delay, Intellectual disability, Iris coloboma, Long face, Low-set, posteriorly rotated ears, Molar tooth sign on MRI, Muscular hypotonia, Nephronophthisis, Nephropathy, Nystagmus, Phenotypic variability, Polycystic kidney dysplasia, Ptosis, Retinal dystrophy, Tachypnea
IPC-nEN1	MFAP2	0.988041245	1.50E-11	Extracellular matrix protein	BrainSpLMD|4237;Eurexp|euxassay_002967|skeleton	OMIM|156790
IPC-nEN1	SORBS2	1.036281043	1.67E-11	Adapter molecule	BrainSpLMD|8470;Eurexp|euxassay_012430|axial skeleton, cochlea, excretory component, exoccipital bone, mantle layer, metatarsus, nasal septum, otic capsule, petrous part, phalanx, skeletal muscle, submandibular gland primordium, tarsus, thyroid, turbinate, ventricle, ventricular layer	OMIM|616349
IPC-nEN1	PAX6	0.665169617	3.75E-11	Transcription factor	BrainSpLMD|5080;BrainSpMouseDev|18274	SFARI||Autism, No category;OMIM|607108;HPO|5080|Abnormal best corrected visual acuity test, Abnormality of movement, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the vagina, Abnormality of vision, Amblyopia, Aniridia, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the macula, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Cerebellar hypoplasia, Chorioretinal coloboma, Congenital glaucoma, Congenital nystagmus, Contiguous gene syndrome, Corneal opacity, Cryptorchidism, Displacement of the external urethral meatus, EEG abnormality, Everted lower lip vermilion, Generalized hyperpigmentation, Glaucoma, Global developmental delay, Hearing abnormality, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Hypoplasia of the iris, Hypospadias, Intellectual disability, Keratitis, Mask-like facies, Microcephaly, Micrognathia, Motor delay, Muscular hypotonia, Nephroblastoma, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Optic disc hypoplasia, Optic nerve aplasia, Optic nerve coloboma, Optic nerve hypoplasia, Peripheral vitreous opacities, Peters anomaly, Postural tremor, Presenile cataracts, Pseudopapilledema, Ptosis, Reduced visual acuity, Retinal detachment, Scanning speech, Short stature, Slurred speech, Somatic mutation, Strabismus, Streak ovary, Visual impairment, Visual loss
IPC-nEN1	SLC17A6	1.61097426	4.40E-11	Membrane transport protein	BrainSpLMD|57084;Eurexp|euxassay_004371|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, mesenchyme, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|80230	OMIM|607563
IPC-nEN1	ROBO2	0.70592421	7.79E-11	Cell surface receptor	BrainSpMouseDev|92611	SFARI||Autism, 3 - Suggestive evidence;OMIM|602431;COSMIC||colorectal adenocarcinoma, melanoma;HPO|6092|Autosomal dominant inheritance, Renal hypoplasia, Vesicoureteral reflux
IPC-nEN1	MYT1	1.232150225	8.09E-11	Transcription factor	BrainSpLMD|4661;Eurexp|euxassay_005418|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, nerve, neural retina, olfactory, respiratory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|17699	OMIM|600379
IPC-nEN1	KIF26B	1.432598225	1.16E-10	Unclassified	BrainSpLMD|55083;Eurexp|euxassay_016415|dorsal root ganglion, extrinsic ocular muscle, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, metanephros, nasal septum, penis, trigeminal V, ventral grey horn	OMIM|614026
IPC-nEN1	SRGAP3	0.982776332	2.07E-10	GTPase activating protein	BrainSpLMD|9901	SFARI||Autism, 4 - Minimal evidence;OMIM|606525;COSMIC||pilocytic astrocytoma
IPC-nEN1	CACNA2D1	1.24751458	2.45E-10	Voltage gated channel	BrainSpLMD|781;Eurexp|euxassay_006438|dorsal grey horn, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, pituitary, skeletal muscle, trigeminal V, ventral grey horn, vertebral axis muscle system;BrainSpMouseDev|12078	OMIM|114204;HPO|781|Atrial fibrillation, Bradycardia, Palpitations, Shortened QT interval
IPC-nEN1	BAZ2B	0.937537177	3.22E-10	Transcription regulatory protein	BrainSpLMD|29994;Eurexp|euxassay_011654|olfactory, vomeronasal organ	OMIM|605683
IPC-nEN1	ELAVL4	0.67896529	3.77E-10	RNA binding protein	BrainSpLMD|1996	OMIM|168360
IPC-nEN1	PLCB4	1.140249646	3.93E-10	GTPase activating protein;Enzyme: Phospholipase	BrainSpLMD|5332;BrainSpMouseDev|18562	OMIM|600810;HPO|5332|Apnea, Autosomal dominant inheritance, Autosomal recessive inheritance, Cleft at the superior portion of the pinna, Cleft palate, Dental crowding, Dental malocclusion, Hypoplastic superior helix, Low-set ears, Mandibular condyle aplasia, Mandibular condyle hypoplasia, Overfolding of the superior helices, Posteriorly rotated ears, Round face, Snoring, Speech articulation difficulties
IPC-nEN1	PPFIA2	0.831583825	4.24E-10	Anchor protein	BrainSpLMD|8499	OMIM|603143
IPC-nEN1	HECW1	0.930847065	7.41E-10	Ubiquitin proteasome system protein	BrainSpLMD|23072;Eurexp|euxassay_009392|brain, cerebral cortex, facial VII, glossopharyngeal IX, mantle layer, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610384
IPC-nEN1	CUX1	0.584977646	7.62E-10	Transcription regulatory protein	BrainSpLMD|1523;BrainSpMouseDev|12828	SFARI||Autism, 3 - Suggestive evidence;OMIM|116896;COSMIC||endometrial, melanoma, colorectal, AML, MDS, other tumour types
IPC-nEN1	LINC01105	1.456513951	8.93E-10		BrainSpLMD|150622	
IPC-nEN1	MEX3A	0.817141493	1.39E-09	RNA binding protein	Eurexp|euxassay_010898|neural retina, olfactory, vomeronasal organ	OMIM|611007
IPC-nEN1	SEZ6L	1.028818001	1.51E-09	Integral membrane protein	BrainSpLMD|23544;Eurexp|euxassay_009459|brain, neural retina, spinal cord	OMIM|607021
IPC-nEN1	GPR56	0.97425441	1.63E-09			
IPC-nEN1	KCNN3	1.511367884	1.66E-09	Intracellular ligand gated channel	BrainSpLMD|3782	OMIM|602983
IPC-nEN1	GRAMD1B	0.648564323	2.09E-09	Integral membrane protein	BrainSpLMD|57476;Eurexp|euxassay_016918|medulla, testis	
IPC-nEN1	LINC01158	0.751644793	2.26E-09			
IPC-nEN1	SLC39A11	1.808437856	2.41E-09	Membrane transport protein	BrainSpLMD|201266	SFARI||Autism, No category;OMIM|616508
IPC-nEN1	CHRDL1	1.490458088	3.56E-09	Secreted polypeptide	BrainSpLMD|91851	OMIM|300350
IPC-nEN1	MLLT4	0.834213463	3.79E-09			
IPC-nEN1	AGO1	1.454061005	4.61E-09	Translation regulatory protein	BrainSpLMD|26523;Eurexp|euxassay_012863|facial VII, incisor, mantle layer, marginal layer, molar, neural retina, olfactory, trigeminal V, ventricular layer	OMIM|606228
IPC-nEN1	CDK2AP1	1.424734149	5.62E-09	Unclassified	BrainSpLMD|8099	OMIM|602198
IPC-nEN1	CELSR2	0.943551329	7.05E-09	G protein coupled receptor	BrainSpLMD|1952;Eurexp|euxassay_008296|brain, spinal cord, vibrissa;BrainSpMouseDev|33178	OMIM|604265
IPC-nEN1	TFAP2C	0.9793632	8.84E-09	Transcription factor	BrainSpLMD|7022;BrainSpMouseDev|21181	OMIM|601602
IPC-nEN1	RASA4	1.118611251	8.95E-09	GTPase activating protein	BrainSpLMD|10156	OMIM|607943
IPC-nEN1	FOXP4	2.123828974	1.00E-08	DNA binding protein	BrainSpLMD|116113;Eurexp|euxassay_001657|axial skeleton, basioccipital bone, basisphenoid bone, mantle layer, mesenchyme, orbito-sphenoid, pectoral girdle and thoracic body wall, rib, stomach, turbinate, ventral grey horn, ventricular layer;BrainSpMouseDev|49964	OMIM|608924
IPC-nEN1	SYNE2	0.753217941	1.19E-08	Cytoskeletal protein	BrainSpLMD|23224;Eurexp|euxassay_010927|cochlea, metanephros, pericardial cavity, peritoneal cavity, renal/urinary system, utricle, ventricular layer	OMIM|608442;HPO|23224|Arrhythmia, Autosomal dominant inheritance, Cardiomyopathy, Childhood onset, Elevated serum creatine phosphokinase, Muscular dystrophy, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Respiratory insufficiency
IPC-nEN1	CPEB2	1.972659652	1.35E-08	RNA binding protein	BrainSpLMD|132864	OMIM|610605
IPC-nEN1	ZNF286A	0.410973785	1.39E-08	DNA binding protein	BrainSpLMD|57335	
IPC-nEN1	HNRNPA1	0.417945902	1.50E-08	RNA binding protein	BrainSpLMD|3178	OMIM|164017;HPO|3178|Abnormality of the abdominal musculature, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dyspnea, Elevated alkaline phosphatase, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Limb-girdle muscular dystrophy, Mildly elevated creatine phosphokinase, Muscle cramps, Muscle fiber inclusion bodies, Muscular dystrophy, Myopathy, Neurodegeneration, Pain, Paralysis, Proximal muscle weakness, Respiratory failure, Rimmed vacuoles, Skeletal muscle atrophy, Spasticity, Xerostomia
IPC-nEN1	TCF4	0.317900461	1.52E-08	Transcription factor	BrainSpLMD|6925;BrainSpMouseDev|21174	SFARI||Autism, No category;OMIM|602272;HPO|6925|Abnormal large intestine physiology, Abnormality of the palate, Absent speech, Aggressive behavior, Anteverted nares, Aphasia, Ascites, Astigmatism, Ataxia, Autoimmunity, Autosomal dominant inheritance, Cirrhosis, Clinodactyly, Clubbing, Coarse facial features, Constipation, Cryptorchidism, Cupped ear, Deeply set eye, Dilated superficial abdominal veins, Dysautonomia, Dysphasia, Echolalia, Elevated alkaline phosphatase of hepatic origin, Elevated hepatic transaminases, Encephalopathy, Esophagitis, Failure of eruption of permanent teeth, Failure to thrive, Feeding difficulties, Fever, Full cheeks, Gait ataxia, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Hepatosplenomegaly, Hiatus hernia, Hypoplasia of the corpus callosum, Incoordination, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intermittent hyperventilation, Microcephaly, Micropenis, Misalignment of teeth, Motor delay, Muscular hypotonia, Mutism, Myopia, Narrow foot, Narrow forehead, Open mouth, Palmar telangiectasia, Pes planus, Pes valgus, Portal hypertension, Seizures, Short neck, Short philtrum, Single transverse palmar crease, Sleep apnea, Specific learning disability, Spider hemangioma, Splenomegaly, Strabismus, Tapered finger, Thick vermilion border, Thickened helices, Ulcerative colitis, Upslanted palpebral fissure, Weight loss, Wide mouth, Wide nasal bridge, Widely spaced teeth
IPC-nEN1	HDAC9	1.212627347	1.56E-08	Transcription regulatory protein	BrainSpLMD|9734	OMIM|606543
IPC-nEN1	AC120042.1	1.186070144	1.85E-08			
IPC-nEN1	KIF21B	0.387390033	1.99E-08	Unclassified	BrainSpLMD|23046;Eurexp|euxassay_011005|dorsal root ganglion, facial VII, forebrain, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|608322
IPC-nEN1	CRB1	0.901846311	2.62E-08	Unclassified	BrainSpLMD|23418	OMIM|604210;HPO|23418|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Encephalocele, Esotropia, Glaucoma, Hemiplegia/hemiparesis, High-grade hypermetropia, Hyperinsulinemia, Hypermetropia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Muscular hypotonia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paravenous chorioretinal atrophy, Pendular nystagmus, Photophobia, Progressive night blindness, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe visual impairment, Undetectable electroretinogram, Visual impairment, Vitreoretinal degeneration, Wide nasal bridge
IPC-nEN1	RP11.436D23.1	0.84839929	3.20E-08			
IPC-nEN1	MAP2	0.346640654	3.71E-08	Cytoskeletal associated protein	BrainSpLMD|4133;Eurexp|euxassay_015099|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|17523	SFARI||Autism, 5 - Hypothesized but untested;OMIM|157130
IPC-nEN1	RND3	0.499583513	4.15E-08	G protein	BrainSpLMD|390	OMIM|602924
IPC-nEN1	ELMO1	0.910341391	4.63E-08	Unclassified;Motor protein	BrainSpLMD|9844;Eurexp|euxassay_012546|floor plate, floorplate, mantle layer, marginal layer, vibrissa	OMIM|606420
IPC-nEN1	PLXNA2	0.501972096	5.44E-08	Cell surface receptor	BrainSpLMD|5362;Eurexp|euxassay_010018|brain, spinal cord;BrainSpMouseDev|18609	OMIM|601054
IPC-nEN1	SLC24A2	0.664281445	5.89E-08	Membrane transport protein	BrainSpLMD|25769	SFARI||Autism, No category;OMIM|609838
IPC-nEN1	PGAP1	0.679424126	6.12E-08	Enzyme: Acyltransferase	BrainSpLMD|80055	OMIM|611655;HPO|80055|Abnormal electroretinogram, Abnormality of the dentition, Autosomal recessive inheritance, Cerebral atrophy, Global developmental delay, Intellectual disability, Macrotia, Microcephaly, Neonatal hypotonia, Retinal dystrophy, Short neck, Short stature, Wide mouth
IPC-nEN1	RASGRP1	1.756061092	6.37E-08	Guanine nucleotide exchange factor	BrainSpLMD|10125;Eurexp|euxassay_005719|mantle layer, olfactory, olfactory lobe	OMIM|603962
IPC-nEN1	USP3	0.729229782	6.89E-08	Ubiquitin proteasome system protein	BrainSpLMD|9960	OMIM|604728
IPC-nEN1	IVNS1ABP	0.93688607	7.42E-08	Unclassified	BrainSpLMD|10625;Eurexp|euxassay_011634|axial muscle, axial skeleton, cervical, cervico-thoracic, clavicle, cochlea, corpus striatum, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lateral ventricle, lip, lung, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, molar, neural retina, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, pituitary, renal/urinary system, saccule, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trachea, trigeminal V, ventricle, ventricular layer, vibrissa	OMIM|609209
IPC-nEN1	PREX1	1.767320036	8.07E-08	Guanine nucleotide exchange factor	BrainSpLMD|57580;Eurexp|euxassay_007998|femur, humerus, mandible, mantle layer, marginal layer, maxilla, orbito-sphenoid, palatal shelf, rib, ventricular layer	SFARI||Autism, 3 - Suggestive evidence;OMIM|606905
IPC-nEN1	CPE	0.451978608	8.32E-08	Carboxypeptidase	BrainSpLMD|1363	OMIM|114855
IPC-nEN1	TMTC2	0.982086944	9.39E-08	Integral membrane protein	BrainSpLMD|160335;Eurexp|euxassay_011308|axial skeleton, bladder, brain, capsule, clavicle, cornea, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, hindgut, mandible, maxilla, midgut, oesophagus, olfactory, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, rib, skeletal muscle, spinal cord, stomach, tibia, trigeminal V, ureter, vagus X, valve, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|615856
IPC-nEN1	AP000962.2	1.162387682	9.92E-08			
IPC-nEN1	SLC25A6	0.789235596	1.09E-07	Transport/cargo protein		OMIM|403000
IPC-nEN1	SMOC1	2.277842306	1.19E-07	Extracellular matrix protein;Calcium binding protein	BrainSpLMD|64093;Eurexp|euxassay_003378|aorta, axial muscle, axial skeleton, cochlea, dorsal grey horn, hyoid bone, mantle layer, marginal layer, medulla, medullary region, meninges, mesenchyme, metatarsus, naris, nasal septum, pancreas, phalanx, saccule, thyroid, turbinate bones, ventral grey horn, ventricle, ventricular layer	OMIM|608488;HPO|64093|Abnormal form of the vertebral bodies, Abnormality of the cardiovascular system, Abnormality of the eyebrow, Abnormality of the hair, Abnormality of the metacarpal bones, Anophthalmia, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Blepharophimosis, Camptodactyly of 2nd-5th fingers, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Deep philtrum, Depressed nasal bridge, Downslanted palpebral fissures, Failure to thrive, Fibular hypoplasia, Finger syndactyly, Flared nostrils, Foot oligodactyly, Frontal bossing, Fused fourth and fifth metacarpals, Hand oligodactyly, High palate, Hip dislocation, Hypoplasia of the maxilla, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Large earlobe, Low-set ears, Low-set, posteriorly rotated ears, Microphthalmia, Optic atrophy, Postaxial foot polydactyly, Postaxial hand polydactyly, Posteriorly rotated ears, Postnatal growth retardation, Prominent forehead, Retrognathia, Sandal gap, Short nose, Short palpebral fissure, Short stature, Short tibia, Single transverse palmar crease, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Tibial bowing, Toe syndactyly, True anophthalmia
IPC-nEN1	CBFA2T2	0.697897346	1.31E-07	Transcription factor	BrainSpLMD|9139;Eurexp|euxassay_019496|lung, marginal layer, neural retina, olfactory, pituitary, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|12181	OMIM|603672
IPC-nEN1	TMSB4X	0.306081838	1.39E-07	Cytoskeletal associated protein		OMIM|300159
IPC-nEN1	KCNQ3	0.763784294	1.90E-07	Voltage gated channel	BrainSpLMD|3786;Eurexp|euxassay_008387|mantle layer, marginal layer, midgut, rib, ventral grey horn;BrainSpMouseDev|75016	SFARI||Autism, 3 - Suggestive evidence;OMIM|602232;HPO|3786|Abnormality of vision, Autosomal dominant inheritance, Choreoathetosis, Deeply set eye, Dysesthesia, Dyskinesia, Focal clonic seizures, Generalized tonic-clonic seizures, Hypertonia, Muscular hypotonia, Myoclonus, Reduced consciousness/confusion, Seizures
IPC-nEN1	FYN	0.842851293	2.22E-07	Tyrosine kinase	BrainSpLMD|2534;BrainSpMouseDev|14136	OMIM|137025
IPC-nEN1	SOGA1	0.830684859	2.24E-07	Unclassified	BrainSpLMD|140710	
IPC-nEN1	MEIS2	0.450602733	2.47E-07	Transcription factor	BrainSpLMD|4212;BrainSpMouseDev|17303	OMIM|601740;HPO|4212|2-3 toe syndactyly, Atrial septal defect, Autistic behavior, Autosomal dominant inheritance, Biparietal narrowing, Broad hallux, Broad thumb, Cleft palate, Cleft upper lip, Coarctation of aorta, Deeply set eye, Delayed speech and language development, Gastroesophageal reflux, Global developmental delay, High anterior hairline, Highly arched eyebrow, Intellectual disability, Large forehead, Microcephaly, Narrow forehead, Pointed chin, Sandal gap, Short 2nd finger, Short 5th finger, Short philtrum, Short stature, Smooth philtrum, Sparse eyebrow, Tented upper lip vermilion, Upslanted palpebral fissure, Ventricular septal defect
IPC-nEN1	RP11.436K8.1	1.013806398	2.64E-07			
IPC-nEN1	MYL6	0.513080329	3.41E-07	Cytoskeletal protein	BrainSpLMD|4637	OMIM|609931
IPC-nEN1	STARD4.AS1	0.757980098	4.13E-07			
IPC-nEN1	CUL1	1.168181904	5.15E-07	Ubiquitin proteasome system protein	BrainSpLMD|8454;Eurexp|euxassay_007276|ventricular layer	OMIM|603134
IPC-nEN1	CLMP	0.940417765	5.44E-07		BrainSpLMD|79827;Eurexp|euxassay_001798|mantle layer, marginal layer	OMIM|611693;HPO|79827|Abnormal peristalsis, Autosomal recessive inheritance, Chronic diarrhea, Cognitive impairment, Congenital shortened small intestine, Decreased intestinal transit time, Failure to thrive, Hypotrichosis, Intestinal hypoplasia, Intestinal malrotation, Lipoatrophy, Short stature, Steatorrhea
IPC-nEN1	NF1	0.621779345	5.48E-07	GTPase activating protein	BrainSpLMD|4763;Eurexp|euxassay_012186|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X;BrainSpMouseDev|17782	SFARI||Autism, No category;OMIM|613113;COSMIC||neurofibroma, glioma, neurofibroma, glioma;HPO|4763|Abdominal wall muscle weakness, Abnormality of the cardiovascular system, Abnormality of the helix, Abnormality of the lymphatic system, Abnormality of the thorax, Astrocytoma, Autosomal dominant inheritance, Axillary freckling, Cafe-au-lait spot, Cryptorchidism, Cubitus valgus, Delayed speech and language development, Depressed nasal bridge, Downslanted palpebral fissures, Dysphagia, Epicanthus, Freckling, Global developmental delay, Hydrocephalus, Hypertelorism, Hypertension, Hypertrophic cardiomyopathy, Hypoplasia of dental enamel, Inguinal freckling, Intellectual disability, Intellectual disability, mild, Juvenile myelomonocytic leukemia, Lisch nodules, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Lower limb muscle weakness, Macrocephaly, Malar flattening, Microcephaly, Midface retrusion, Multiple cafe-au-lait spots, Muscle weakness, Neurofibromas, Neurofibrosarcoma, Optic glioma, Overgrowth, Paraparesis, Parathyroid adenoma, Pectus excavatum of inferior sternum, Posteriorly rotated ears, Prolonged bleeding time, Prominent nasolabial fold, Ptosis, Pulmonic stenosis, Relative macrocephaly, Rhabdomyosarcoma, Scoliosis, Secundum atrial septal defect, Short neck, Short stature, Somatic mutation, Specific learning disability, Spina bifida, Spinal cord tumor, Superior pectus carinatum, Symmetric spinal nerve root neurofibromas, Webbed neck
IPC-nEN1	GOLGA8A	0.956123206	6.38E-07	Unclassified	BrainSpLMD|23015	OMIM|616180
IPC-nEN1	LINC00883	1.501139459	7.46E-07			
IPC-nEN1	CLVS1	0.664246098	7.53E-07	Unclassified	BrainSpLMD|157807	OMIM|611292
IPC-nEN1	SVIL	1.020326313	7.71E-07	Cytoskeletal associated protein	BrainSpLMD|6840;Eurexp|euxassay_011675|epidermis, exoccipital bone, meninges, midgut, pharyngo-tympanic tube, skeletal muscle, stomach, vibrissa	OMIM|604126
IPC-nEN1	TFDP2	0.907502909	8.08E-07	Transcription factor	BrainSpLMD|7029;Eurexp|euxassay_009223|liver, marginal layer, nasal capsule, neural retina, olfactory, ventricular layer;BrainSpMouseDev|84320	OMIM|602160
IPC-nEN1	ZFHX4	0.773001409	9.89E-07	Transcription factor	BrainSpLMD|79776;Eurexp|euxassay_005820|epidermis, mantle layer, nasal septum, urethra;BrainSpMouseDev|56662	OMIM|606940;HPO|79776|Autosomal dominant inheritance, Congenital ptosis
IPC-nEN1	FAM60A	1.162544398	1.20E-06			
IPC-nEN1	GPRC5B	2.059605725	1.34E-06	G protein coupled receptor	BrainSpLMD|51704;BrainSpMouseDev|40898	OMIM|605948
IPC-nEN1	CHD7	0.655591845	1.50E-06	DNA binding protein	Eurexp|euxassay_010758|marginal layer, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|608892;HPO|55636|Abnormality of body height, Abnormality of female internal genitalia, Abnormality of lymphocytes, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Alopecia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bifid scrotum, Breast hypoplasia, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Desquamation of skin soon after birth, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysphagia, Edema, Eosinophilia, Erectile abnormalities, Erythroderma, Esophageal atresia, Eunuchoid habitus, External ear malformation, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Female hypogonadism, Fever, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Hepatomegaly, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphopenia, Malar flattening, Male hypogonadism, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Non-obstructive azoospermia, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Pneumonia, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Secondary amenorrhea, Sensorineural hearing impairment, Severe combined immunodeficiency, Sparse body hair, Splenomegaly, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Thickened skin, Tracheoesophageal fistula, Umbilical hernia, Ventricular septal defect, Wide intermamillary distance
IPC-nEN1	SPIRE1	0.715918622	1.74E-06	Transport/cargo protein	BrainSpLMD|56907	OMIM|609216
IPC-nEN1	SCRN1	0.884285232	1.78E-06	Protease	BrainSpLMD|9805;Eurexp|euxassay_012592|cervical, cervico-thoracic, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, penis, thoracic, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII	OMIM|614965
IPC-nEN1	DUOX1	1.418482086	1.84E-06	Enzyme: Peroxidase	BrainSpLMD|53905	OMIM|606758
IPC-nEN1	HNRNPA1P48	0.486728553	2.30E-06			
IPC-nEN1	FDFT1	0.353932126	2.47E-06	Enzyme: Synthase	BrainSpLMD|2222;Eurexp|euxassay_005703|calyces, cerebral cortex, cervical, cervico-thoracic, cochlear component, dorsal root ganglion, epithelium, facial VII, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, inferior, inner ear, lens, loop, mantle layer, mesenteric artery, midgut, molar, nucleus pulposus, retina, skeleton, stomach, superior, tegmentum, thoracic, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|184420
IPC-nEN1	PDE1C	0.87097812	2.51E-06	Enzyme: Phosphodiesterase	BrainSpLMD|5137;BrainSpMouseDev|18341	SFARI||Autism, No category;OMIM|602987
IPC-nEN1	NREP	0.338652804	2.87E-06	Unclassified	BrainSpLMD|9315	OMIM|607332
IPC-nEN1	DMRTA2	1.04978393	3.01E-06	Transcription factor		OMIM|614804
IPC-nEN1	ZNF493	0.475817682	3.02E-06	DNA binding protein	BrainSpLMD|284443	
IPC-nEN1	KIAA1456	0.344251386	4.70E-06	Unclassified;Enzyme: Aminomethyl transferase	BrainSpLMD|57604;BrainSpMouseDev|106517	OMIM|615666
IPC-nEN1	ZNF570	0.94680639	4.70E-06	DNA binding protein	BrainSpLMD|148268	
IPC-nEN1	SMARCD3	1.125577759	5.05E-06	Transcription regulatory protein	BrainSpLMD|6604	OMIM|601737
IPC-nEN1	RP11.553L6.5	0.336017368	5.30E-06			
IPC-nEN1	SNCAIP	0.641522028	5.86E-06	Unclassified	BrainSpLMD|9627	OMIM|603779;HPO|9627|Bradykinesia, Constipation, Dementia, Depressivity, Dysarthria, Dysphagia, Dystonia, Insidious onset, Lewy bodies, Mask-like facies, Neuronal loss in central nervous system, Parkinsonism, Personality changes, Postural instability, Progressive, Resting tremor, Rigidity, Short stepped shuffling gait, Sleep disturbance, Sporadic, Substantia nigra gliosis, Urinary urgency, Weak voice
IPC-nEN1	KLF13	1.190987987	6.04E-06	Transcription factor	BrainSpLMD|51621	OMIM|605328;HPO|51621|Abnormal facial shape, Autosomal dominant inheritance, Phenotypic variability
IPC-nEN1	AUTS2	0.48151304	7.77E-06	Unclassified	BrainSpLMD|26053	SFARI||Autism, 3 - Suggestive evidence;OMIM|607270;HPO|26053|Abnormal facial shape, Arthrogryposis multiplex congenita, Autism, Autosomal dominant inheritance, Brachycephaly, Cerebral palsy, Decreased palmar creases, Delayed speech and language development, Downslanted palpebral fissures, Feeding difficulties, Global developmental delay, Highly arched eyebrow, Hypertelorism, Intellectual disability, Kyphosis, Low-set ears, Microcephaly, Narrow mouth, Prominent nasal tip, Ptosis, Scoliosis, Short palpebral fissure, Short philtrum, Short stature, Small for gestational age, Strabismus, Thick eyebrow, Wide nasal base
IPC-nEN1	ZNF562	0.813820338	8.36E-06	Unclassified	BrainSpLMD|54811	
IPC-nEN1	LPPR1	0.714547286	8.49E-06			
IPC-nEN1	ANKRD10	0.310281154	9.79E-06	Unclassified	BrainSpLMD|55608	
IPC-nEN1	EPHB1	1.339091457	1.15E-05	Receptor tyrosine kinase	BrainSpLMD|2047;Eurexp|euxassay_018955|floorplate, mantle layer, marginal layer, mesenchyme, neural retina, ventricular layer;BrainSpMouseDev|92948	OMIM|600600
IPC-nEN1	GTF2I	0.721617926	1.28E-05	Transcription factor	BrainSpLMD|2969	SFARI||Autism, 4 - Minimal evidence;OMIM|601679;HPO|2969|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the neck, Anxiety, Arthralgia, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad forehead, Cerebral ischemia, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Dental malocclusion, Depressivity, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Epicanthus, Everted lower lip vermilion, Failure to thrive in infancy, Gait imbalance, Genu valgum, Hallux valgus, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Inguinal hernia, Insomnia, Intellectual disability, Joint stiffness, Kyphosis, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Microcephaly, Microdontia, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Open bite, Overfriendliness, Pelvic kidney, Periorbital edema, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Proteinuria, Protruding ear, Pulmonic stenosis, Redundant skin, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Visual impairment, Wide mouth, Wide nasal bridge
IPC-nEN1	NFIC	1.608291173	1.35E-05	Transcription factor	BrainSpLMD|4782;Eurexp|euxassay_008959|mesenchyme;BrainSpMouseDev|17796	OMIM|600729
IPC-nEN1	FAM126A	0.430848501	1.49E-05	Unclassified	BrainSpLMD|84668;Eurexp|euxassay_013806|olfactory, ventricular layer	OMIM|610531;HPO|84668|Abnormal pyramidal signs, Abnormality of the cerebellum, Autosomal recessive inheritance, Babinski sign, Cerebral hypomyelination, Cerebral white matter atrophy, Congenital cataract, Decreased motor nerve conduction velocity, Dysarthria, Global developmental delay, Hyperreflexia, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intention tremor, Leukodystrophy, Loss of ability to walk, Lower limb amyotrophy, Lower limb muscle weakness, Motor delay, Muscular hypotonia of the trunk, Polyneuropathy, Scoliosis, Seizures, Truncal titubation, Variable expressivity
IPC-nEN1	CCDC88C	1.289946607	2.01E-05	Protease inhibitor	BrainSpLMD|440193;Eurexp|euxassay_016252|clavicle, femur, humerus, mandible, mantle layer, maxilla, orbito-sphenoid, rib, ventral grey horn	SFARI||Autism, 4 - Minimal evidence;OMIM|611204;HPO|440193|Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Broad-based gait, Congenital onset, Dysarthria, Dysdiadochokinesis, Hydrocephalus, Hyperreflexia, Intellectual disability, Intention tremor, Pontocerebellar atrophy, Seizures, Slow progression, Spastic paraparesis, Unsteady gait, Ventriculomegaly
IPC-nEN1	ZNF286B	0.387741493	2.01E-05	Unclassified		
IPC-nEN1	SIK2	1.271211354	2.48E-05	Serine/threonine kinase	BrainSpLMD|23235	OMIM|608973
IPC-nEN1	1-Mar	1.173101519	2.91E-05			
IPC-nEN1	PLCB1	0.876052634	3.12E-05	Enzyme: Phospholipase	BrainSpLMD|23236	SFARI||Autism, 3 - Suggestive evidence;OMIM|607120;HPO|23236|Abnormality of skin morphology, Autosomal recessive inheritance, Developmental regression, Epileptic encephalopathy, Focal seizures, Generalized seizures, Hyperreflexia, Hypsarrhythmia, Infantile spasms, Muscular hypotonia of the trunk, Myoclonus, Spasticity
IPC-nEN1	MT.CO1	0.32128691	3.19E-05			
IPC-nEN1	SCARNA22	0.485619911	3.24E-05			
IPC-nEN1	SCARB2	0.278002604	3.39E-05	Cell surface receptor	BrainSpLMD|950;Eurexp|euxassay_009131|embryo	OMIM|602257;HPO|950|Abdominal pain, Anemia, Anorexia, Aseptic necrosis, Autosomal recessive inheritance, Bone pain, Bruising susceptibility, Cerebellar atrophy, Delayed puberty, Delayed skeletal maturation, Dysarthria, Dysphagia, EEG with polyspike wave complexes, Focal segmental glomerulosclerosis, Gait ataxia, Generalized seizures, Gingival bleeding, Hepatomegaly, Hypersplenism, Increased bone mineral density, Intention tremor, Kyphosis, Limb ataxia, Morning myoclonic jerks, Myoclonus, Nephropathy, Nephrotic syndrome, Osteolysis, Osteopenia, Pancytopenia, Postural tremor, Proteinuria, Rapidly progressive, Renal insufficiency, Splenomegaly, Thrombocytopenia
IPC-nEN1	SLC22A23	1.014752641	3.41E-05	Integral membrane protein	BrainSpLMD|63027	OMIM|611697
IPC-nEN1	FGD4	0.658485058	3.58E-05	Guanine nucleotide exchange factor	BrainSpLMD|121512;Eurexp|euxassay_009166|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, handplate, neural retina, olfactory, pancreas, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|611104;HPO|121512|Areflexia, Autosomal recessive inheritance, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal sensory impairment, Heterogeneous, Hyporeflexia, Infantile onset, Motor delay, Onion bulb formation, Peripheral demyelination, Pes cavus, Scoliosis, Talipes equinovarus, Upper limb muscle weakness, Waddling gait
IPC-nEN1	TP53INP1	0.875267611	4.15E-05	Cell cycle control protein	BrainSpLMD|94241	OMIM|606185
IPC-nEN1	ZNF3	0.940426437	5.43E-05	DNA binding protein	BrainSpLMD|7551	OMIM|194510
IPC-nEN1	PAK3	0.362919918	5.53E-05	Serine/threonine kinase	BrainSpLMD|5063	OMIM|300142;HPO|5063|Aggressive behavior, Agitation, Anteverted nares, Anxiety, Delayed gross motor development, Delayed speech and language development, Drooling, Flat face, High palate, Hyperactivity, Intellectual disability, Macrotia, Microcephaly, Open mouth, Psychosis, Seizures, Short attention span, Short nose, Thin upper lip vermilion, Variable expressivity, X-linked recessive inheritance
IPC-nEN1	ZMIZ1	0.510226535	6.20E-05	Unclassified	BrainSpLMD|57178	OMIM|607159
IPC-nEN1	RP11.806K15.1	0.373620105	6.37E-05			
IPC-nEN1	LHX2	0.323985458	7.82E-05	Transcription regulatory protein	BrainSpLMD|9355;BrainSpMouseDev|16641	OMIM|603759
IPC-nEN1	ZEB1	0.453184518	8.11E-05	Transcription factor	BrainSpLMD|6935;Eurexp|euxassay_015398|central nervous system, meninges, vertebral axis muscle system;BrainSpMouseDev|21178	OMIM|189909;COSMIC||CCRCC, melanoma;HPO|6935|Autosomal dominant inheritance, Corneal dystrophy, Corneal guttata
IPC-nEN1	FOXN2	0.58220787	8.59E-05	DNA binding protein	BrainSpLMD|3344;Eurexp|euxassay_019499|incisor, liver, lung, mandible, mantle layer, marginal layer, maxilla, molar, submandibular gland primordium, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|14013	OMIM|143089
IPC-nEN1	LINC00461	0.282203888	8.88E-05		Eurexp|euxassay_008007|marginal layer, ventricular layer	OMIM|616611
IPC-nEN1	SEMA5B	0.971294357	9.53E-05	Integral membrane protein	BrainSpLMD|54437;BrainSpMouseDev|20120	OMIM|609298
IPC-nEN1	CDK9	1.337176697	9.89E-05	Serine/threonine kinase	BrainSpLMD|1025	OMIM|603251
IPC-nEN1	NEUROD1	1.201166774	0.000106607	Transcription factor	BrainSpLMD|4760;Eurexp|euxassay_019467|dorsal grey horn, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, pancreas, pineal primordium, pituitary, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17779	OMIM|601724;HPO|4760|Autosomal dominant inheritance, Maturity-onset diabetes of the young
IPC-nEN1	HECTD4	0.443236938	0.000107151	Unclassified	BrainSpLMD|283450;Eurexp|euxassay_010071|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence
IPC-nEN1	PCDH9	0.291378736	0.000107175	Adhesion molecule	BrainSpLMD|5101;Eurexp|euxassay_014258|facial VII, mantle layer, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|603581
IPC-nEN1	CALCOCO1	0.606462663	0.000107302	Transcription regulatory protein	BrainSpLMD|57658;Eurexp|euxassay_006214|thymus primordium	
IPC-nEN1	PABPN1	0.621977355	0.000109832	RNA binding protein	BrainSpLMD|8106	OMIM|602279;HPO|8106|Abnormality of the pharynx, Adult onset, Autosomal dominant inheritance, Distal muscle weakness, Dysarthria, Dysphagia, Elevated serum creatine phosphokinase, Facial palsy, Gait disturbance, Limb muscle weakness, Mask-like facies, Myopathy, Neck muscle weakness, Ophthalmoplegia, Progressive, Progressive ptosis, Proximal muscle weakness, Ptosis, Ragged-red muscle fibers, Rimmed vacuoles, Spondylolisthesis
IPC-nEN1	SNRPGP10	0.970121103	0.000112815			
IPC-nEN1	ZNF292	0.561639785	0.00011631	Transcription factor		SFARI||Autism, 4 - Minimal evidence;OMIM|616213
IPC-nEN1	NR2F1	0.915048105	0.000124625	Nuclear receptor	BrainSpLMD|7025;BrainSpMouseDev|13643	SFARI||Autism, 4 - Minimal evidence;OMIM|132890;HPO|7025|Autosomal dominant inheritance, Global developmental delay, Intellectual disability, Nystagmus, Optic atrophy, Optic disc pallor, Reduced visual acuity, Strabismus, Tapered finger, Visual field defect, Visual impairment
IPC-nEN1	NKAIN3	1.437349324	0.000129225	Unclassified	BrainSpLMD|286183	OMIM|612872
IPC-nEN1	LPPR4	0.538507699	0.000134938			
IPC-nEN1	MEIS3	1.087905721	0.00013703	Transcription regulatory protein	BrainSpLMD|56917;BrainSpMouseDev|17304	
IPC-nEN1	LINC01114	0.909932053	0.000141885			
IPC-nEN1	MAP7D1	0.748345152	0.000145341	Unclassified	BrainSpLMD|55700;Eurexp|euxassay_016402|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	
IPC-nEN1	EPHA3	0.648830382	0.000146046	Receptor tyrosine kinase	BrainSpLMD|2042;Eurexp|euxassay_018957|axial muscle, clavicle, cranial muscle, extrinsic ocular muscle, floorplate, head mesenchyme, incisor, lip, lung, mantle layer, marginal layer, mesenchyme, molar, naris, palatal shelf, pectoral girdle and thoracic body wall, skeletal muscle, tarsus, thymus primordium, tongue, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|13615	OMIM|179611;COSMIC||lung cancer, CRC, melanoma
IPC-nEN1	ZNF804A	1.385059024	0.000164387	Unclassified	BrainSpLMD|91752;Eurexp|euxassay_008966|brain, dorsal root ganglion, facial VII, spinal cord, tongue, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|612282
IPC-nEN1	HNRNPA1P10	0.737964263	0.000166419			
IPC-nEN1	GLCE	0.83740643	0.000167144	Enzyme: Epimerase	BrainSpLMD|26035;Eurexp|euxassay_014583|lip	OMIM|612134
IPC-nEN1	USP22	0.409954142	0.000172382	Unclassified	Eurexp|euxassay_000296|alar plate, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral wall, lens, medulla oblongata, meninges, metencephalon, neural retina, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612116
IPC-nEN1	POU3F2	0.489869178	0.000172506	Transcription factor	BrainSpLMD|5454;BrainSpMouseDev|18755	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600494
IPC-nEN1	RBFOX3	1.645697635	0.000175399			OMIM|616999
IPC-nEN1	CCSAP	1.042346026	0.000181083	Unclassified	BrainSpLMD|126731;Eurexp|euxassay_014272|olfactory, ventricular layer, vomeronasal organ	OMIM|616762
IPC-nEN1	RBPJ	0.651688508	0.000181717	Transcription factor;Transcription regulatory protein	BrainSpLMD|3516;BrainSpMouseDev|19427	OMIM|147183;HPO|3516|2-3 toe syndactyly, Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aplasia cutis congenita, Autosomal dominant inheritance, Brachydactyly, Calvarial skull defect, Cataract, Cutis marmorata, Failure to thrive, Finger syndactyly, Hydrocephalus, Microcephaly, Microphthalmia, Pulmonary artery atresia, Short distal phalanx of finger, Short metatarsal, Sparse hair, Split hand, Strabismus, Talipes, Tetralogy of Fallot
IPC-nEN1	NKAIN1	0.684216702	0.000190415	Integral membrane protein	BrainSpLMD|79570	OMIM|612871
IPC-nEN1	CYTH1	0.64538362	0.000204963	Guanine nucleotide exchange factor	BrainSpLMD|9267	OMIM|182115
IPC-nEN1	CDON	0.799130012	0.000209288	Cell surface receptor	BrainSpLMD|50937;BrainSpMouseDev|37081	OMIM|608707;HPO|50937|Agenesis of corpus callosum, Autosomal dominant inheritance, Cleft lip, Cleft palate, Delayed puberty, Ectopic posterior pituitary, Failure to thrive, Global developmental delay, Holoprosencephaly, Hypoglycemia, Hypoplasia of penis, Hypotelorism, Hypothyroidism, Microcephaly, Polysplenia, Proptosis, Short stature, Sporadic, Synophrys, Thick eyebrow, Variable expressivity
IPC-nEN1	LZTS1	1.054458439	0.000221068	Unclassified	BrainSpLMD|11178;Eurexp|euxassay_011133|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|84266	OMIM|606551;HPO|11178|Autosomal dominant inheritance, Squamous cell carcinoma
IPC-nEN1	SPAG9	0.284359066	0.000238878	Integral membrane protein	BrainSpLMD|9043;Eurexp|euxassay_014482|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vestibulocochlear VIII	OMIM|605430
IPC-nEN1	TRIM2	0.276499484	0.0002441	Unclassified	BrainSpLMD|23321;Eurexp|euxassay_008433|anterior, bladder, brain, cervical, cervico-thoracic, epithelium, facial VII, glossopharyngeal IX, hindgut, larynx, left lung, lens, mesenchyme, mesentery, metanephros, midgut, naso-lacrimal duct, neural retina, olfactory, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thoracic, trachea, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|614141;HPO|23321|Areflexia, Autosomal recessive inheritance, Broad-based gait, Decreased muscle mass, Decreased number of peripheral myelinated nerve fibers, Generalized hypotonia, Knee flexion contracture, Muscle weakness, Peripheral axonal neuropathy, Pes cavus, Respiratory insufficiency, Talipes equinovarus, Tracheomalacia, Vocal cord paralysis
IPC-nEN1	GTF2IRD2	0.622687168	0.00024814	Transcription factor	BrainSpLMD|84163	OMIM|608899
IPC-nEN1	CACUL1	0.605635115	0.000252524	Unclassified	BrainSpLMD|143384	
IPC-nEN1	KDM5B	0.640037179	0.000260302	Transcription regulatory protein	BrainSpLMD|10765;BrainSpMouseDev|51446	SFARI||Autism, 2 - Strong candidate;OMIM|605393
IPC-nEN1	NIPBL	0.624941745	0.000264745	-	BrainSpLMD|25836	SFARI||Autism, No category;OMIM|608667;HPO|25836|2-3 toe syndactyly, Abnormality of the umbilicus, Abnormally low-pitched voice, Anteverted nares, Anxiety, Astigmatism, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Choanal atresia, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Conductive hearing impairment, Congenital diaphragmatic hernia, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Dislocated radial head, Downturned corners of mouth, Duplication of internal organs, Ectopic kidney, Elbow dislocation, Elbow flexion contracture, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Hand oligodactyly, Hiatus hernia, High palate, High, narrow palate, Highly arched eyebrow, Hirsutism, Hypertonia, Hypoplasia of penis, Hypoplasia of the radius, Hypoplastic labia majora, Hypoplastic male external genitalia, Hypoplastic nipples, Hypoplastic radial head, Hypospadias, Inguinal hernia, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Limited elbow extension, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Malrotation of colon, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Optic nerve coloboma, Phenotypic variability, Phocomelia, Phthisis bulbi, Pneumonia, Premature birth, Proptosis, Proximal placement of thumb, Ptosis, Pyloric stenosis, Radioulnar synostosis, Reduced renal corticomedullary differentiation, Seizures, Self-injurious behavior, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Short sternum, Single transverse palmar crease, Sleep disturbance, Small hand, Sporadic, Strabismus, Supernumerary ribs, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Thrombocytopenia, Toe syndactyly, Ventricular septal defect, Vesicoureteral reflux, Weak cry, Widely spaced teeth
IPC-nEN1	KIF5C	0.537517603	0.00028476	Motor protein	BrainSpLMD|3800;Eurexp|euxassay_015929|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, olfactory, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|16347	SFARI||Autism, No category;OMIM|604593;HPO|3800|Absent speech, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Congenital onset, Cortical dysplasia, Fetal akinesia sequence, Global developmental delay, Hypoplasia of the corpus callosum, Intrauterine growth retardation, Microcephaly, Polymicrogyria, Seizures, Spastic tetraplegia, Variable expressivity
IPC-nEN1	RPL7AP6	0.805812438	0.000285761			
IPC-nEN1	SOX5	0.388437543	0.000296252	Transcription factor	BrainSpLMD|6660;BrainSpMouseDev|20440	SFARI||Autism, No category;OMIM|604975;HPO|6660|2-3 toe syndactyly, Abnormality of brain morphology, Anxiety, Autosomal dominant inheritance, Bulbous nose, Clinodactyly, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Exaggerated median tongue furrow, Exotropia, Facial asymmetry, Frontal bossing, Generalized hypotonia, Global developmental delay, Hyperplasia of the maxilla, Intellectual disability, Low-set ears, Lumbar hyperlordosis, Motor delay, Muscular hypotonia, Myopia, Narrow palate, Open mouth, Optic atrophy, Pectus carinatum, Phenotypic variability, Posteriorly rotated ears, Scoliosis, Strabismus, Thoracic kyphoscoliosis, Vertebral fusion, Wide nasal bridge
IPC-nEN1	ATP6V1G1	0.555251951	0.000299081	Transport/cargo protein	BrainSpLMD|9550;Eurexp|euxassay_006208|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, stroma, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|607296
IPC-nEN1	RP11.121G22.3	0.847896089	0.000301714			
IPC-nEN1	ZBTB20	0.329920819	0.000313004	Transcription factor	BrainSpLMD|26137;BrainSpMouseDev|35770	SFARI||Autism, 3 - Suggestive evidence;OMIM|606025;HPO|26137|Abnormality of the palate, Absent axillary hair, Absent facial hair, Anemia, Anonychia, Autosomal dominant inheritance, Basilar impression, Bilateral cryptorchidism, Bone cyst, Brachycephaly, Broad forehead, Calcification of the auricular cartilage, Cataract, Conductive hearing impairment, Deeply set eye, Developmental regression, Distal amyotrophy, Downslanted palpebral fissures, Downturned corners of mouth, Gait disturbance, Generalized hypotonia, Generalized osteoporosis, Genu valgum, Gynecomastia, Hearing impairment, Hip contracture, Hydrocephalus, Hypogonadism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Increased size of the mandible, Intellectual disability, Irregular vertebral endplates, Knee flexion contracture, Kyphosis, Macrocephaly, Macrotia, Malar flattening, Metatarsus adductus, Midface retrusion, Myopathy, Narrow chest, Narrow iliac wings, Narrow mouth, Neurodegeneration, Osteolysis, Pectus excavatum, Pes cavus, Plagiocephaly, Posterior polar cataract, Posterior scalloping of vertebral bodies, Ptosis, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Sparse scalp hair, Sporadic, Superiorly displaced ears, Synophrys, Thick lower lip vermilion, Truncal obesity
IPC-nEN1	APEX1	0.56513853	0.000381516	DNA repair protein	BrainSpLMD|328;Eurexp|euxassay_005116|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, hindgut, incisor, liver, lung, mandible, metanephros, midgut, molar, naris, naso-lacrimal duct, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, rectum, respiratory, retina, spinal cord, sternum, stomach, submandibular gland primordium, testis, thoracic, thymus primordium, thyroid, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|107748
IPC-nEN1	TAGLN3	0.53744476	0.000421714	Cytoskeletal associated protein;Unclassified	BrainSpLMD|29114;Eurexp|euxassay_000750|dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, inferior, neural retina, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607953
IPC-nEN1	ZXDC	1.541904912	0.000424694	Unclassified	BrainSpLMD|79364	OMIM|615746
IPC-nEN1	PNISR	0.325451712	0.000459435	Unclassified	BrainSpLMD|25957;Eurexp|euxassay_011305|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|616653
IPC-nEN1	XIST	0.4457381	0.000461374			OMIM|314670;HPO|7503|Spontaneous abortion
IPC-nEN1	TRIM33	0.537142318	0.000463832	Transcription regulatory protein	BrainSpLMD|51592;Eurexp|euxassay_018763|submandibular gland primordium	SFARI||Autism, No category;OMIM|605769;COSMIC||papillary thyroid;HPO|51592|Autosomal dominant inheritance, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma
IPC-nEN1	NRP1	0.573730326	0.000470453	Cell surface receptor	BrainSpLMD|8829;BrainSpMouseDev|17953	OMIM|602069
IPC-nEN1	DOK6	1.058461254	0.000471892	Adapter molecule	BrainSpLMD|220164;Eurexp|euxassay_013254|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, spinal cord, trigeminal V	OMIM|611402
IPC-nEN1	KCTD6	1.010819647	0.000476886	Ion channel	BrainSpLMD|200845;Eurexp|euxassay_003600|dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vibrissa	
IPC-nEN1	GPC2	0.431441775	0.000484587	Integral membrane protein	BrainSpLMD|221914;Eurexp|euxassay_006296|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
IPC-nEN1	SIPA1L2	0.952535257	0.000485144	GTPase activating protein	BrainSpLMD|57568;Eurexp|euxassay_006320|mantle layer, marginal layer, thymus primordium, ventricular layer;BrainSpMouseDev|89268	OMIM|611609
IPC-nEN1	GNG3	0.620409128	0.000493769	G protein	BrainSpLMD|2785;Eurexp|euxassay_010359|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608941
IPC-nEN1	ITCH	0.454711565	0.000544041	Ubiquitin proteasome system protein	BrainSpLMD|83737;Eurexp|euxassay_009772|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|606409;HPO|83737|Abnormal facial shape, Autoimmunity, Autosomal recessive inheritance, Camptodactyly, Clinodactyly, Dolichocephaly, Frontal bossing, Global developmental delay, Hepatomegaly, Low-set ears, Posteriorly rotated ears, Prominent occiput, Proptosis, Relative macrocephaly, Short chin, Splenomegaly
IPC-nEN1	RP11.817I4.2	0.549640505	0.000544851			
IPC-nEN1	NRG1	0.597112577	0.000589983	Growth factor	BrainSpLMD|3084;Eurexp|euxassay_007625|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, testis, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|84285	SFARI||Autism, 5 - Hypothesized but untested;OMIM|142445;COSMIC||NSCLC
IPC-nEN1	BMPR1A	0.324134022	0.000620608	Receptor serine/threonine kinase	BrainSpLMD|657;BrainSpMouseDev|11952	OMIM|601299;COSMIC||gastrointestinal polyps;HPO|657|Abdominal pain, Adenomatous colonic polyposis, Anemia, Autosomal dominant inheritance, Colon cancer, Failure to thrive, Hyperplastic colonic polyposis, Hypoalbuminemia, Hypokalemia, Juvenile colonic polyposis, Multiple gastric polyps
IPC-nEN1	SMAD9	0.339985838	0.000636194	Transcription factor;Unclassified	BrainSpLMD|4093;BrainSpMouseDev|35279	OMIM|603295;HPO|4093|Autosomal dominant inheritance, Incomplete penetrance, Increased pulmonary vascular resistance, Progressive, Pulmonary arterial hypertension
IPC-nEN1	HYDIN2	0.469512886	0.0006683			OMIM|610813
IPC-nEN1	LINC00925	1.009746649	0.00067951			
IPC-nEN1	CDV3	0.464886815	0.000808183	Unclassified	BrainSpLMD|55573	
IPC-nEN1	IP6K2	0.453497523	0.000885245	Lipid Kinase	BrainSpLMD|51447	OMIM|606992
IPC-nEN1	CD200	0.360213131	0.000907285	Cell surface receptor;Unclassified	BrainSpLMD|4345;Eurexp|euxassay_010522|anterior, aorta, basisphenoid bone, brain, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, mandible, maxilla, neural retina, orbito-sphenoid, radius, rib, scapula, spinal cord, thoracic, tibia, trigeminal V, turbinate bones, ulna, vagus X, vestibulocochlear VIII, vibrissa	OMIM|155970
IPC-nEN1	CTNND1	0.39951956	0.000951157	Adhesion molecule	BrainSpLMD|1500;BrainSpMouseDev|12173	OMIM|601045;COSMIC||large intestine carcinoma
IPC-nEN1	ARHGAP21	0.330491172	0.000955152	GTPase activating protein	BrainSpLMD|57584;Eurexp|euxassay_007662|dorsal root ganglion, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, ventral grey horn	OMIM|609870
IPC-nEN1	ACLY	0.733611353	0.000974265	ATPase	BrainSpLMD|47;Eurexp|euxassay_018561|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, medulla, molar, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|108728
IPC-nEN1	ANK3	0.477482635	0.000981289	Adapter molecule	BrainSpLMD|288;BrainSpMouseDev|11522	SFARI||Autism, No category;OMIM|600465;HPO|288|Aggressive behavior, Autosomal recessive inheritance, Bruxism, Generalized hypotonia, Hyperactivity, Intellectual disability, Intellectual disability, moderate, Spasticity
IPC-nEN1	RP11.166D19.1	0.296782888	0.001021588			
IPC-nEN1	FMNL2	0.313610229	0.001082621	Unclassified	BrainSpLMD|114793	OMIM|616285
IPC-nEN1	NCBP2	0.587208801	0.001084218	RNA binding protein	BrainSpLMD|22916;Eurexp|euxassay_008123|embryo	OMIM|605133
IPC-nEN1	BRWD1	0.417813619	0.001117059	Transcription regulatory protein;Unclassified	BrainSpLMD|54014	
IPC-nEN1	RP11.87H9.2	0.43194612	0.001166938			
IPC-nEN1	ST8SIA2	0.471442651	0.001173634	Enzyme: Sialyltransferase	BrainSpLMD|8128	SFARI||Autism, No category;OMIM|602546
IPC-nEN1	ZNF766	0.948928374	0.001190535	DNA binding protein		
IPC-nEN1	SPATA13	0.474932216	0.001195181	Unclassified	BrainSpLMD|221178;Eurexp|euxassay_009443|ventricular layer	OMIM|613324
IPC-nEN1	TSPAN6	0.870669968	0.00119852	Cell surface receptor	BrainSpLMD|7105;Eurexp|euxassay_004870|incisor, mandible, maxilla, molar	OMIM|300191
IPC-nEN1	RPL5P23	0.680960604	0.001232414			
IPC-nEN1	ZNF638	0.261508814	0.00128891	DNA binding protein	BrainSpLMD|27332	OMIM|614349
IPC-nEN1	KLHL24	0.31153735	0.001359356	Unclassified	BrainSpLMD|54800;Eurexp|euxassay_004876|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V, vagus X	OMIM|611295;HPO|54800|Autosomal dominant inheritance, Diffuse palmoplantar keratoderma, Dystrophic toenail, Sparse body hair
IPC-nEN1	KDM1A	0.345995848	0.00138817	Enzyme: Deacetylase;Transcription regulatory protein	BrainSpLMD|23028	OMIM|609132;HPO|23028|Abnormal vertebral morphology, Autosomal dominant inheritance, Frontal bossing, Generalized hypotonia, Highly arched eyebrow, Lower limb hypertonia, Motor delay, Short thumb, Tapered finger
IPC-nEN1	UGGT1	0.312847897	0.001402798	Enzyme: Glycosyltransferase	BrainSpLMD|56886	OMIM|605897
IPC-nEN1	EVL	0.879996548	0.001441076	Cytoskeletal protein	BrainSpLMD|51466;BrainSpMouseDev|13803	OMIM|616912
IPC-nEN1	WIPF3	0.496242703	0.001452012	Cytoskeletal associated protein	BrainSpLMD|644150	OMIM|612432
IPC-nEN1	SSR4	0.675845269	0.001483538	Membrane transport protein	BrainSpLMD|6748;Eurexp|euxassay_002889|Meckel's cartilage, axial skeleton, basisphenoid bone, chondrocranium, exoccipital bone, incisor, lobe, molar, nasal capsule, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, rib, submandibular gland primordium, thymus primordium, turbinate	OMIM|300090;HPO|6748|Abnormal facial shape, Abnormality of upper lip vermillion, Clinodactyly, Congenital onset, Deeply set eye, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hypospadias, Intellectual disability, Joint dislocation, Macrotia, Microcephaly, Micrognathia, Scoliosis, Seizures, Strabismus, Type I transferrin isoform profile, Vomiting, Wide mouth, Widely spaced teeth, X-linked recessive inheritance
IPC-nEN1	SLC4A7	0.377172407	0.001484138	Transport/cargo protein	BrainSpLMD|9497	OMIM|603353
IPC-nEN1	VANGL2	0.585048479	0.001549955	Integral membrane protein	Eurexp|euxassay_012321|brain, incisor, molar, spinal cord, vibrissa	OMIM|600533;HPO|57216|Anencephaly, Asymmetry of spinal facet joints, Autosomal dominant inheritance, Hydrocephalus, Multiple lipomas, Myelomeningocele, Primary adrenal insufficiency, Spina bifida occulta, Urinary incontinence
IPC-nEN1	BSDC1	0.613977799	0.001606335	Unclassified	BrainSpLMD|55108	OMIM|617518
IPC-nEN1	DAAM1	0.399036444	0.00161727	Unclassified	BrainSpLMD|23002;BrainSpMouseDev|84026	OMIM|606626
IPC-nEN1	SEL1L3	0.644172743	0.001636996	Integral membrane protein	BrainSpLMD|23231;Eurexp|euxassay_002775|basal plate, calyces, cerebral cortex, corpus striatum, cortex, dorsal root ganglion, ductus deferens, foregut-midgut junction, glossopharyngeal IX, hindgut, marginal layer, midgut, rectum, stomach, submandibular gland primordium, trigeminal V, urethra, vestibulocochlear VIII	
IPC-nEN1	COPA	0.890479303	0.001655634	Transport/cargo protein	BrainSpLMD|1314;Eurexp|euxassay_003303|clavicle, mandible, maxilla, rib	OMIM|601924
IPC-nEN1	PLCE1	0.480467316	0.001664997	Guanine nucleotide exchange factor	BrainSpLMD|51196;Eurexp|euxassay_014545|floor plate, floorplate	OMIM|608414;HPO|51196|Autosomal recessive inheritance, Childhood onset, Diffuse mesangial sclerosis, Edema, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Progressive, Proteinuria, Stage 5 chronic kidney disease
IPC-nEN1	RPAP1	0.835132203	0.001701507	Unclassified	BrainSpLMD|26015	OMIM|611475
IPC-nEN1	MAPK10	0.465520415	0.001748672	Serine/threonine kinase	BrainSpLMD|5602;Eurexp|euxassay_009977|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|26162	OMIM|602897;HPO|5602|Abnormality of brainstem morphology, Aggressive behavior, Atonic seizures, Atypical absence seizures, Autistic behavior, EEG with focal sharp slow waves, Encephalopathy, Falls, Generalized tonic seizures, Generalized tonic-clonic seizures, Hyperactivity, Intellectual disability, Mental deterioration, Myoclonus, Personality disorder
IPC-nEN1	H3F3AP4	0.252240597	0.001760312			
IPC-nEN1	TBR1	1.029403768	0.00178219	Transcription factor	BrainSpLMD|10716;BrainSpMouseDev|21136	SFARI||Autism, 1 - High confidence;OMIM|604616;HPO|10716|Abnormality of oral frenula, Abnormality of the iris, Autistic behavior, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Cataract, Cleft palate, Coloboma, Downslanted palpebral fissures, Failure to thrive, Growth delay, Hand clenching, Hypertelorism, Intellectual disability, Long fingers, Low-set, posteriorly rotated ears, Microphthalmia, Neonatal hypotonia, Seizures, Severe global developmental delay, Short neck, Short philtrum, Small face, Small for gestational age, Toe syndactyly
IPC-nEN1	LRCH3	0.507221458	0.001919399	Unclassified	BrainSpLMD|84859	
IPC-nEN1	NCSTN	0.793417698	0.001925559	Integral membrane protein	BrainSpLMD|23385;BrainSpMouseDev|37711	OMIM|605254;HPO|23385|Acne inversa, Atypical scarring of skin, Autosomal dominant inheritance
IPC-nEN1	LDLRAD4	1.184418636	0.001952273	Integral membrane protein	BrainSpLMD|753	OMIM|606571
IPC-nEN1	COTL1	0.880620636	0.001972062	Unclassified	BrainSpLMD|23406;Eurexp|euxassay_010951|cortex, embryo, epithelium, lens, mantle layer, marginal layer, midgut, neural retina, olfactory, stomach, thymus primordium, trachea, ventricular layer;BrainSpMouseDev|47883	OMIM|606748
IPC-nEN1	MKLN1	0.280032104	0.00197976	Adhesion molecule	BrainSpLMD|4289	OMIM|605623
IPC-nEN1	CC2D2A	0.661074359	0.002027779	Unclassified		OMIM|612013;HPO|57545|Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the iris, Apnea, Astigmatism, Ataxia, Autistic behavior, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Blindness, Cataract, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cirrhosis, Cleft palate, Coloboma, Congenital hepatic fibrosis, Cryptorchidism, Cystic liver disease, Depressed nasal ridge, Elevated hepatic transaminases, Encephalocele, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Heterogeneous, Hyperreflexia, Hypertelorism, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intrahepatic biliary atresia, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Multiple small medullary renal cysts, Muscular hypotonia, Nephronophthisis, Nephropathy, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic nerve coloboma, Portal hypertension, Postaxial foot polydactyly, Postaxial hand polydactyly, Ptosis, Pulmonary hypoplasia, Renal cyst, Renal insufficiency, Retinal dystrophy, Rod-cone dystrophy, Round face, Sclerocornea, Sloping forehead, Spasticity, Splenomegaly, Tachypnea, Talipes, Talipes equinovarus, Ventriculomegaly, Visual impairment, Wide mouth
IPC-nEN1	RBM3	0.598094637	0.002098076	RNA binding protein	BrainSpLMD|5935	OMIM|300027
IPC-nEN1	ZNF302	0.532939912	0.002102895	DNA binding protein	BrainSpLMD|55900	
IPC-nEN1	LARP7	0.693416	0.002178183	Unclassified	BrainSpLMD|51574;Eurexp|euxassay_006535|embryo	OMIM|612026;HPO|51574|Autosomal recessive inheritance, Decreased body weight, Deeply set eye, Depressed nasal bridge, Global developmental delay, Intellectual disability, severe, Low-set ears, Malar flattening, Microcephaly, Scoliosis, Severe short stature, Short philtrum, Thick vermilion border, Wide mouth, Wide nasal bridge, Wide nose
IPC-nEN1	PRKX	1.032400214	0.002186273	Serine/threonine kinase	BrainSpLMD|5613	OMIM|300083
IPC-nEN1	IRAK1BP1	1.149463989	0.002243579	Unclassified		OMIM|615375
IPC-nEN1	HNRNPA1P4	0.449026019	0.002304136			
IPC-nEN1	PHLDA1	0.511316973	0.002396801	Transcription factor	BrainSpLMD|22822;Eurexp|euxassay_008411|anterior, axial skeleton, bladder, cartilaginous ring, cornea, diaphragm, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, hepatic duct, hindgut, incisor, inner ear, left lung, liver, mantle layer, medulla, meninges, metanephros, midgut, molar, naso-lacrimal duct, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, right lung, skeletal muscle, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, tongue, trigeminal V, ureter, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|605335
IPC-nEN1	PIP5K1A	1.443851319	0.002422826	Lipid Kinase	BrainSpLMD|8394;Eurexp|euxassay_018593|incisor, vibrissa	OMIM|603275
IPC-nEN1	ACTB	0.278688265	0.002426523	Cytoskeletal protein	BrainSpLMD|60;BrainSpMouseDev|11250	OMIM|102630;HPO|60|Abnormality of metabolism/homeostasis, Achalasia, Agenesis of corpus callosum, Anteverted nares, Aortic valve stenosis, Aphasia, Autosomal dominant inheritance, Autosomal recessive inheritance, Bicuspid aortic valve, Blindness, Cataract, Cerebral cortical hemiatrophy, Chorioretinal coloboma, Cleft palate, Cleft upper lip, Coarse facial features, Cryptorchidism, Death in early adulthood, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Dysphagia, Dysphasia, Echolalia, Epicanthus, Euryblepharon, Externally rotated hips, Failure to thrive, Feeding difficulties, Full cheeks, Generalized dystonia, Generalized hypotonia, Global developmental delay, Growth delay, Heterochromia iridis, High forehead, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplastic scapulae, Immunodeficiency, Intellectual disability, Intellectual disability, mild, Iris coloboma, Joint stiffness, Kyphoscoliosis, Kyphosis, Large fontanelles, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Macroglossia, Macrogyria, Mental deterioration, Microcephaly, Micrognathia, Micromelia, Micropenis, Mild global developmental delay, Mutism, Oral cleft, Osteochondrosis, Overfolded helix, Pachygyria, Patent ductus arteriosus, Pointed chin, Polymicrogyria, Postnatal growth retardation, Prominent epicanthal folds, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Scoliosis, Seizures, Sensorineural hearing impairment, Short columella, Short neck, Short nose, Short stature, Skeletal dysplasia, Small for gestational age, Specific learning disability, Subcortical cerebral atrophy, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Trigonocephaly, Wide mouth, Wide nasal bridge, Wide nose
IPC-nEN1	CRLF3	0.25879017	0.002451752	Unclassified	BrainSpLMD|51379;Eurexp|euxassay_008617|liver, thymus primordium	OMIM|614853
IPC-nEN1	RC3H1	0.378937586	0.002476477	Ubiquitin proteasome system protein		OMIM|609424
IPC-nEN1	TSPAN5	1.103525427	0.002481461	Integral membrane protein	BrainSpLMD|10098	OMIM|613136
IPC-nEN1	RANBP1	0.522448799	0.002634355	Transport/cargo protein		OMIM|601180
IPC-nEN1	HIPK2	0.654472167	0.002635976	Serine/threonine kinase	BrainSpLMD|28996	OMIM|606868
IPC-nEN1	DDAH2	0.259322457	0.002702402	Enzyme: Hydrolase	BrainSpLMD|23564	OMIM|604744
IPC-nEN1	PSMB7	0.368297386	0.002711127	Ubiquitin proteasome system protein	BrainSpLMD|5695	OMIM|604030
IPC-nEN1	RNF144A	0.97575928	0.002731757	Ubiquitin proteasome system protein	BrainSpLMD|9781	
IPC-nEN1	ILKAP	1.47631213	0.002758624	Serine/threonine phosphatase	BrainSpLMD|80895	
IPC-nEN1	UBE4B	0.926074262	0.00278673	Ubiquitin proteasome system protein	BrainSpLMD|10277	OMIM|613565
IPC-nEN1	SEMA6D	0.905950775	0.002895962	Membrane bound ligand	BrainSpLMD|80031;Eurexp|euxassay_010735|dorsal root ganglion, embryo, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|84750	OMIM|609295
IPC-nEN1	HNRNPA1P7	0.470041901	0.002975473			
IPC-nEN1	GLI3	0.790574521	0.002989534	Transcription factor	BrainSpLMD|2737;Eurexp|euxassay_018378|axial skeleton, mesenchyme, phalanx, ventricular layer;BrainSpMouseDev|14410	OMIM|165240;HPO|2737|1-5 toe syndactyly, 3-4 finger syndactyly, Abnormal lung lobation, Abnormality of earlobe, Accelerated skeletal maturation, Anal atresia, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Bifid epiglottis, Broad hallux phalanx, Broad thumb, Cryptorchidism, Dandy-Walker malformation, Decreased circulating cortisol level, Decreased testicular size, Distal shortening of limbs, Distal urethral duplication, Dysplastic distal thumb phalanges with a central hole, Ectopic kidney, Esophageal atresia, Finger syndactyly, Frontal bossing, Growth hormone deficiency, High forehead, Hip dislocation, Holoprosencephaly, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplasia of the epiglottis, Intellectual disability, severe, Intrauterine growth retardation, Laryngeal cleft, Macrocephaly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Micropenis, Nail dysplasia, Neonatal death, Panhypopituitarism, Postaxial foot polydactyly, Postaxial hand polydactyly, Preaxial foot polydactyly, Preaxial polydactyly, Precocious puberty, Preductal coarctation of the aorta, Prominent occiput, Radial head subluxation, Renal cyst, Renal dysplasia, Renal hypoplasia, Scaphocephaly, Seizures, Short nose, Short stature, Sloping forehead, Telecanthus, Thyroid dysgenesis, Toe syndactyly, Tracheoesophageal fistula, Trigonocephaly, Triphalangeal thumb, Variable expressivity, Ventricular septal defect, Wide nasal bridge
IPC-nEN1	NEDD4L	0.275372841	0.003029193	Ubiquitin proteasome system protein	BrainSpLMD|23327;Eurexp|euxassay_011535|brain, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, metanephros, midgut, neural retina, oesophagus, olfactory, pancreas, rectum, renal/urinary system, rest of mesenchyme, skeletal muscle, spinal cord, stomach, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|606384;HPO|23327|2-3 toe syndactyly, Autosomal dominant inheritance, Cleft palate, Congenital onset, Cryptorchidism, Global developmental delay, Intellectual disability, Micrognathia, Muscular hypotonia of the trunk, Strabismus
IPC-nEN1	MMP16	0.522496614	0.003032577	Metallo protease	BrainSpLMD|4325;Eurexp|euxassay_002543|body-wall mesenchyme, cochlear duct, cranium, head mesenchyme, mandible, rib, vibrissa	OMIM|602262
IPC-nEN1	ZMYM4.AS1	0.564262899	0.003114179			
IPC-nEN1	NEUROD6	0.375041711	0.003177814	Transcription factor	BrainSpLMD|63974;Eurexp|euxassay_017889|inner ear, mantle layer, olfactory, olfactory lobe;BrainSpMouseDev|11708	OMIM|611513
IPC-nEN1	MRPS31	0.284086367	0.003197747	Ribosomal subunit	BrainSpLMD|10240;Eurexp|euxassay_011534|left lung, liver, metanephros, midgut, right lung, stomach	OMIM|611992
IPC-nEN1	MYO10	0.645563998	0.003436174	Motor protein	BrainSpLMD|4651;Eurexp|euxassay_009373|mantle layer, marginal layer, thymus primordium, trigeminal V, ventricular layer	OMIM|601481
IPC-nEN1	ZKSCAN1	0.257331926	0.003442635	Transcription regulatory protein	BrainSpLMD|7586;Eurexp|euxassay_012753|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, olfactory, spinal cord, trigeminal V, vagus X;BrainSpMouseDev|50411	OMIM|601260
IPC-nEN1	ATP1B3	0.526675213	0.003598125	ATPase	BrainSpLMD|483	OMIM|601867
IPC-nEN1	NMD3	0.483157023	0.003624042	Unclassified	BrainSpLMD|51068	OMIM|611021
IPC-nEN1	RPL3P7	0.297271378	0.003677194			
IPC-nEN1	WDR6	1.10906881	0.003720569	Integral membrane protein	BrainSpLMD|11180	OMIM|606031
IPC-nEN1	PCMTD1	0.353110006	0.003739639	Unclassified	BrainSpLMD|115294;Eurexp|euxassay_011211|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, incisor, midbrain, molar, neural retina, spinal cord, submandibular gland primordium, testis, thymus primordium, thyroid, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	
IPC-nEN1	FLRT3	0.893550387	0.003787243	Adhesion molecule	BrainSpLMD|23767;Eurexp|euxassay_006295|axial skeleton, bladder, eyelid, incisor, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, molar, pharyngo-tympanic tube, physiological umbilical hernia, pituitary, submandibular gland primordium, ventricular layer, vibrissa	OMIM|604808;HPO|23767|Abnormality of the voice, Anosmia, Anterior hypopituitarism, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Delayed puberty, Erectile abnormalities, Gynecomastia, Hypogonadotrophic hypogonadism, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Primary amenorrhea, Reduced bone mineral density, Sparse axillary hair, Sparse pubic hair
IPC-nEN1	CSNK1E	0.372618127	0.003951049	Serine/threonine kinase	BrainSpLMD|1454;Eurexp|euxassay_018818|brain, cervical, cervico-thoracic, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|27118	OMIM|600863
IPC-nEN1	MYEF2	0.486301008	0.004038741	Transcription regulatory protein	BrainSpLMD|50804;Eurexp|euxassay_001436|liver, otic capsule, vertebral axis muscle system	
IPC-nEN1	APPL2	0.279720684	0.004162124	Unclassified	BrainSpLMD|55198;Eurexp|euxassay_000187|corpus striatum, dental papilla, epithelium, footplate, handplate, medulla, mesenchyme, parenchyma, stomach, thalamus, ventricular layer	OMIM|606231
IPC-nEN1	CNTNAP2	0.562967633	0.004216019	Adhesion molecule	BrainSpLMD|26047;Eurexp|euxassay_011473|facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V	SFARI||Autism, 2 - Strong candidate;OMIM|604569;COSMIC||glioma, melanoma;HPO|26047|Cortical dysplasia, Delayed gross motor development, Hyperactivity, Impaired social interactions, Intellectual disability, Progressive language deterioration, Reduced tendon reflexes, Seizures
IPC-nEN1	MAPRE1	0.627394294	0.00446285	Cell cycle control protein	BrainSpLMD|22919	OMIM|603108
IPC-nEN1	ZNF74	1.502544226	0.004505395	RNA binding protein	BrainSpLMD|7625	OMIM|194548
IPC-nEN1	SPATS2	0.680615599	0.0045426	Unclassified	BrainSpLMD|65244	OMIM|611667
IPC-nEN1	RPL8	0.322981803	0.004698314	Ribosomal subunit	BrainSpLMD|6132;Eurexp|euxassay_006230|left, right	OMIM|604177
IPC-nEN1	MIDN	0.269402387	0.004741641	Unclassified		OMIM|606700
IPC-nEN1	ASIC1	0.716691146	0.005515231	Ion channel	BrainSpLMD|41;BrainSpMouseDev|11208	OMIM|602866
IPC-nEN1	NFIX	0.87704254	0.005539415	Transcription factor	BrainSpLMD|4784;BrainSpMouseDev|17799	SFARI||Autism, No category;OMIM|164005;HPO|4784|Accelerated skeletal maturation, Advanced eruption of teeth, Agenesis of corpus callosum, Anteverted nares, Anxiety, Astigmatism, Atlantoaxial dislocation, Atrial septal defect, Autosomal dominant inheritance, Blue sclerae, Bullet-shaped middle phalanges of the hand, Cerebral atrophy, Choanal atresia, Choanal stenosis, Coxa valga, Cutis marmorata, Death in childhood, Decreased body weight, Delayed speech and language development, Depressed nasal bridge, Distal widening of metacarpals, Downslanted palpebral fissures, Eclabion, Everted lower lip vermilion, Failure to thrive, Frontal bossing, Generalized hypotonia, Gingival overgrowth, Glossoptosis, Hearing impairment, High forehead, Hypermetropia, Hypoplasia of the odontoid process, Intellectual disability, Irregular dentition, Large sternal ossification centers, Laryngomalacia, Long face, Long fingers, Low-set ears, Macrocephaly, Macrogyria, Malar flattening, Mandibular prognathia, Midface retrusion, Motor delay, Narrow face, Narrow mouth, Nystagmus, Obstructive sleep apnea, Omphalocele, Overfolded helix, Overgrowth, Patent ductus arteriosus, Pectus excavatum, Prominence of the premaxilla, Prominent forehead, Pulmonary arterial hypertension, Recurrent aspiration pneumonia, Retrognathia, Scoliosis, Shallow orbits, Short distal phalanx of finger, Short mandibular rami, Short nose, Short philtrum, Short sternum, Slender long bone, Sporadic, Strabismus, Synophrys, Tall stature, Thick eyebrow, Umbilical hernia, Ventriculomegaly
IPC-nEN1	DANCR	0.801452823	0.005555148			OMIM|614625
IPC-nEN1	FBLN1	1.112343024	0.005687879	Extracellular matrix protein	BrainSpLMD|2192;Eurexp|euxassay_011935|bladder, meninges, mesenchyme, midgut, nasal cavity, stomach, valve	OMIM|135820;HPO|2192|Autosomal dominant inheritance, Carpal synostosis, Metacarpal synostosis, Metatarsal synostosis, Polydactyly, Tarsal synostosis, Toe syndactyly
IPC-nEN1	RP11.396K3.1	0.514438993	0.005749218			
IPC-nEN1	NOL4L	0.50862145	0.005755613	Unclassified	BrainSpLMD|140688;Eurexp|euxassay_006045|ear, olfactory	
IPC-nEN1	AMER2	0.304389004	0.005774707	Unclassified	BrainSpLMD|219287;Eurexp|euxassay_006362|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614659
IPC-nEN1	PPP2R2B	0.424151934	0.005790303	Regulatory/other subunit;Serine/threonine phosphatase	BrainSpLMD|5521;Eurexp|euxassay_007301|Meckel's cartilage, brain, eyelid, facial VII, glossopharyngeal IX, inner ear, left lung, neural retina, orbito-sphenoid, right lung, skeletal muscle, spinal cord, tongue, trigeminal V, turbinate, vagus X, vestibulocochlear VIII	OMIM|604325;HPO|5521|Abnormality of eye movement, Action tremor, Anxiety, Autosomal dominant inheritance, Axial dystonia, Cerebellar atrophy, Cerebral cortical atrophy, Delusions, Dementia, Depressivity, Dysarthria, Dysdiadochokinesis, Dysmetria, Facial myokymia, Head tremor, Hyperreflexia, Parkinsonism, Progressive cerebellar ataxia, Sensorimotor neuropathy
IPC-nEN1	STAG3	0.856972337	0.005879746	Unclassified	BrainSpLMD|10734	OMIM|608489;HPO|10734|Autosomal recessive inheritance, Increased circulating gonadotropin level, Premature ovarian insufficiency, Primary amenorrhea
IPC-nEN1	DLG3	1.132010457	0.005936845	Cell junction protein	BrainSpLMD|1741	OMIM|300189;HPO|1741|Behavioral abnormality, Delayed speech and language development, Enuresis, Generalized hypotonia, Global developmental delay, Intellectual disability, Strabismus, X-linked inheritance, X-linked recessive inheritance
IPC-nEN1	SYNRG	1.150445651	0.005938724	Transport/cargo protein	BrainSpLMD|11276	OMIM|607291
IPC-nEN1	C6orf203	1.511902708	0.005964192	Unclassified	BrainSpLMD|51250	
IPC-nEN1	UBXN4	0.33575201	0.006128305	Unclassified	BrainSpLMD|23190;Eurexp|euxassay_008244|embryo	OMIM|611216
IPC-nEN1	MAGED1	0.389036807	0.006249866	Cell cycle control protein	BrainSpLMD|9500;Eurexp|euxassay_012384|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system;BrainSpMouseDev|60907	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300224
IPC-nEN1	AC083884.8	1.164522588	0.006302474			
IPC-nEN1	AASS	0.509150945	0.006413762	Enzyme: Oxidoreductase;Enzyme: Synthase	BrainSpLMD|10157	OMIM|605113;HPO|10157|Abnormality of the genitourinary system, Anemia, Autosomal recessive inheritance, Cognitive impairment, Delayed speech and language development, EEG abnormality, Ectopia lentis, Histidinuria, Hyperactivity, Hyperlysinemia, Hyperlysinuria, Infantile onset, Intellectual disability, Intellectual disability, mild, Muscular hypotonia, Phenotypic variability, Seizures, Short attention span, Short stature, Spastic diplegia
IPC-nEN1	NUDT4	1.155555423	0.006445114	Unclassified	BrainSpLMD|11163	OMIM|609229
IPC-nEN1	SHISA5	0.923814831	0.006575764	Integral membrane protein	BrainSpLMD|51246	OMIM|607290
IPC-nEN1	EMX2	1.144534188	0.006696484	Transcription factor	BrainSpLMD|2018;Eurexp|euxassay_019479|eyelid, lip, mantle layer, metanephros, olfactory, paramesonephric duct, phalanx, saccule, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|13575	OMIM|600035;HPO|2018|Schizencephaly
IPC-nEN1	SMIM8	0.266739923	0.006975005	Unclassified	BrainSpLMD|57150	
IPC-nEN1	H2AFY2	0.814441197	0.006976303	DNA binding protein	BrainSpLMD|55506	OMIM|616141
IPC-nEN1	RPAIN	0.541005911	0.007172134	Transport/cargo protein	BrainSpLMD|84268	OMIM|617299
IPC-nEN1	MAP6	0.596461226	0.007293856	Cytoskeletal associated protein	BrainSpLMD|4135;Eurexp|euxassay_000634|cochlear component, dorsal root ganglion, facial VII, inferior, neural retina, olfactory, superior, trigeminal V, vestibular component	OMIM|601783
IPC-nEN1	LCOR	0.725508535	0.00732	Transcription regulatory protein	BrainSpLMD|84458;Eurexp|euxassay_014562|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|84411	OMIM|607698
IPC-nEN1	SORBS1	0.570565882	0.007366617	Cell junction protein	BrainSpLMD|10580;Eurexp|euxassay_003610|axial skeleton, basisphenoid bone, bladder, brain, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, heart, hindlimb, incisor, lens, liver, lung, metanephros, midgut, nasal septum, oesophagus, olfactory, orbito-sphenoid, otic capsule, respiratory, retina, rib, spinal cord, sternum, stomach, tongue, trachea, trigeminal V, vagus X, vertebra, vertebral cartilage condensation, vestibulocochlear VIII;BrainSpMouseDev|20174	OMIM|605264
IPC-nEN1	GTF2IP1	0.434642268	0.007400923			
IPC-nEN1	MACF1	0.315516955	0.007433459	Cytoskeletal associated protein	BrainSpLMD|23499;Eurexp|euxassay_011134|brain, diaphragm, extraembryonic component, facial VII, footplate, glossopharyngeal IX, handplate, left lung, metanephros, oesophagus, paraxial mesenchyme, rest of mesenchyme, right lung, skeletal muscle, spinal cord, trigeminal V, vagus X, vertebral axis muscle system, vibrissa	OMIM|608271
IPC-nEN1	AGAP4	0.831314756	0.007484868	GTPase activating protein		
IPC-nEN1	HNRNPA1P35	0.270642124	0.007565537			
IPC-nEN1	EIF4E2	0.814998641	0.007648847	Translation regulatory protein	BrainSpLMD|9470	OMIM|605895
IPC-nEN1	RP11.658F2.8	0.784685038	0.007935849			
IPC-nEN1	AP001172.2	1.007993271	0.007948885			
IPC-nEN1	C16orf87	0.364006031	0.008045659	Unclassified	BrainSpLMD|388272;Eurexp|euxassay_000571|Meckel's cartilage, axial skeleton, head mesenchyme, incisor, lung, oesophagus, otic capsule, turbinate bones, urethra, vertebral axis muscle system	
IPC-nEN1	EPHB2	1.056215541	0.008592629	Receptor tyrosine kinase	BrainSpLMD|2048;Eurexp|euxassay_018956|mandible, marginal layer, mesenchyme, rib, ventricular layer;BrainSpMouseDev|13622	SFARI||Autism, No category;OMIM|600997
IPC-nEN1	DYNC1LI2	0.290631818	0.008668393	Unclassified	BrainSpLMD|1783	OMIM|611406
IPC-nEN1	FBXL20	0.389977525	0.008857118	Ubiquitin proteasome system protein	BrainSpLMD|84961	OMIM|609086
IPC-nEN1	MARCKS	0.268048311	0.009076471	Cytoskeletal protein	BrainSpLMD|4082	OMIM|177061
IPC-nEN1	ADAR	0.470216149	0.009371766	Enzyme: Deaminase	BrainSpLMD|103;Eurexp|euxassay_018648|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|146920;HPO|103|Arrhinencephaly, Autosomal dominant inheritance, Autosomal recessive inheritance, Cleft eyelid, Dystonia, Global developmental delay, Hemiplegia/hemiparesis, Hyperpigmented/hypopigmented macules, Infantile onset, Intellectual disability, profound, Loss of ability to walk, Loss of speech, Macular hyperpigmentation, Macular hypopigmentation, Macule, Porencephalic cyst, Rigidity, Spasticity, Torsion dystonia, Tremor
IPC-nEN1	PTPN4	0.258235781	0.00948028	Tyrosine phosphatase	BrainSpLMD|5775;Eurexp|euxassay_009725|mantle layer, marginal layer, ventricular layer	OMIM|176878
IPC-nEN1	VASH1	0.927417047	0.009506952	Growth inhibitory factor	BrainSpLMD|22846;Eurexp|euxassay_009040|dorsal root ganglion, glossopharyngeal IX, marginal layer, trigeminal V, vagus X	SFARI||Autism, 4 - Minimal evidence;OMIM|609011
IPC-nEN1	GDAP1	0.453882304	0.009512136	Unclassified	BrainSpLMD|54332	OMIM|606598;HPO|54332|Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Axonal degeneration/regeneration, Axonal regeneration, Basal lamina 'onion bulb' formation, CNS hypomyelination, Childhood onset, Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, EMG: neuropathic changes, Flexion contracture, Foot dorsiflexor weakness, Hammertoe, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Inability to walk by childhood/adolescence, Infantile onset, Kyphoscoliosis, Limb muscle weakness, Motor delay, Neonatal onset, Onion bulb formation, Peripheral axonal degeneration, Peripheral demyelination, Peripheral hypomyelination, Peripheral neuropathy, Pes cavus, Proximal muscle weakness, Rapidly progressive, Scoliosis, Spinal deformities, Split hand, Steppage gait, Talipes equinovarus, Ulnar claw, Vocal cord paresis
IPC-nEN1	HEG1	0.413895901	0.00966782	Calcium binding protein	BrainSpLMD|57493;Eurexp|euxassay_005510|ventricular layer	OMIM|614182
IPC-nEN1	PAG1	0.566220429	0.009777135	Adapter molecule	BrainSpLMD|55824	OMIM|605767
IPC-nEN1	PGRMC2	0.722570751	0.009859198	Integral membrane protein	BrainSpLMD|10424;Eurexp|euxassay_007705|facial VII, mantle layer, pharyngo-tympanic tube, submandibular gland primordium, trigeminal V, vagus X;BrainSpMouseDev|46645	OMIM|607735
IPC-nEN1	PHC2	0.611554671	0.009929505	Ubiquitin proteasome system protein	BrainSpLMD|1912	OMIM|602979
IPC-nEN1	SCYL2	0.66233621	0.009990394	Serine/threonine kinase	BrainSpLMD|55681	OMIM|616365
IPC-nEN1	ATP6V0A1	0.638373167	0.009990788	Ion channel	BrainSpLMD|535	OMIM|192130
IPC-nEN2	PPP1R17	2.700673953	0	Unclassified	BrainSpLMD|10842;Eurexp|euxassay_003055|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, stroma, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|604088
IPC-nEN2	NHLH1	2.582450839	0	Transcription factor	BrainSpLMD|4807;Eurexp|euxassay_003709|dorsal root ganglion, glossopharyngeal IX, marginal layer, meninges, neural retina, olfactory, stroma, trigeminal V, ventricular layer;BrainSpMouseDev|17838	OMIM|162360
IPC-nEN2	SSTR2	2.336337819	0	G protein coupled receptor	BrainSpLMD|6752;BrainSpMouseDev|20368	OMIM|182452
IPC-nEN2	RASGEF1B	1.371406216	0	Guanine nucleotide exchange factor	BrainSpLMD|153020;Eurexp|euxassay_003547|basal plate, mantle layer, marginal layer, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|614532
IPC-nEN2	ROBO2	1.195352123	0	Cell surface receptor	BrainSpMouseDev|92611	SFARI||Autism, 3 - Suggestive evidence;OMIM|602431;COSMIC||colorectal adenocarcinoma, melanoma;HPO|6092|Autosomal dominant inheritance, Renal hypoplasia, Vesicoureteral reflux
IPC-nEN2	NFIA	0.911324762	0	Transcription factor	BrainSpLMD|4774;BrainSpMouseDev|17794	SFARI||Autism, 4 - Minimal evidence;OMIM|600727;HPO|4774|Agenesis of corpus callosum, Anteverted nares, Arnold-Chiari type I malformation, Broad face, Broad forehead, Cognitive impairment, Cutis marmorata, Generalized hypotonia, Global developmental delay, Hydronephrosis, Hypoplasia of the corpus callosum, Inguinal hernia, Intellectual disability, Low-set ears, Macrocephaly, Narrow mouth, Phenotypic variability, Renal hypoplasia, Seizures, Short chin, Short nose, Sporadic, Syringomyelia, Thin upper lip vermilion, Ventriculomegaly, Vesicoureteral reflux
IPC-nEN2	NFIB	0.868439849	0	Transcription factor	BrainSpLMD|4781;BrainSpMouseDev|17795	OMIM|600728;COSMIC||adenoid cystic carcinoma, lipoma
IPC-nEN2	SOX11	0.429992928	0	Transcription factor	BrainSpLMD|6664;BrainSpMouseDev|20428	OMIM|600898;HPO|6664|Abnormal facial shape, Abnormality of cardiovascular system morphology, Abnormality of the columella, Abnormality of the dentition, Abnormality of the nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Autosomal dominant inheritance, Clinodactyly, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Everted lower lip vermilion, Feeding difficulties in infancy, Full cheeks, Generalized hirsutism, Global developmental delay, Hearing impairment, Highly arched eyebrow, Hypertrichosis, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Long nose, Low-set ears, Microcephaly, Midface retrusion, Muscular hypotonia, Nystagmus, Open mouth, Posteriorly rotated ears, Recurrent respiratory infections, Scoliosis, Seizures, Short chin, Short distal phalanx of finger, Short nose, Short palpebral fissure, Short philtrum, Short stature, Slow-growing hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick vermilion border, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Wide mouth, Wide nasal bridge
IPC-nEN2	SOX4	0.378878975	0	Transcription factor	BrainSpLMD|6659;Eurexp|euxassay_019583|cervical, cervico-thoracic, dorsal grey horn, dorsal root ganglion, incisor, lung, mantle layer, mesenchyme, metanephros, molar, neural retina, oesophagus, phalanx, submandibular gland primordium, testis, trachea, valve, vibrissa;BrainSpMouseDev|20439	OMIM|184430
IPC-nEN2	SORBS2	1.460093289	2.22E-16	Adapter molecule	BrainSpLMD|8470;Eurexp|euxassay_012430|axial skeleton, cochlea, excretory component, exoccipital bone, mantle layer, metatarsus, nasal septum, otic capsule, petrous part, phalanx, skeletal muscle, submandibular gland primordium, tarsus, thyroid, turbinate, ventricle, ventricular layer	OMIM|616349
IPC-nEN2	MARCKS	0.663576949	5.55E-16	Cytoskeletal protein	BrainSpLMD|4082	OMIM|177061
IPC-nEN2	EOMES	2.108849857	2.11E-15	Transcription factor	BrainSpLMD|8320;BrainSpMouseDev|13591	OMIM|604615
IPC-nEN2	EZR	0.891119337	5.33E-15	Anchor protein	BrainSpLMD|7430;Eurexp|euxassay_018306|axial skeleton, calyces, choroid plexus, cochlea, dorsal root ganglion, epidermis, epithelium, fundus region, hindgut, incisor, larynx, lens, lobe, lung, marginal layer, midgut, molar, oesophagus, oral epithelium, pelvis, penis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, rib, saccule, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricle, ventricular layer, vibrissa	OMIM|123900;COSMIC||NSCLC
IPC-nEN2	MT.RNR2	0.325367526	5.01E-14			
IPC-nEN2	SLC17A6	2.078032466	6.26E-14	Membrane transport protein	BrainSpLMD|57084;Eurexp|euxassay_004371|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, mesenchyme, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|80230	OMIM|607563
IPC-nEN2	NEUROD6	1.166236189	7.51E-14	Transcription factor	BrainSpLMD|63974;Eurexp|euxassay_017889|inner ear, mantle layer, olfactory, olfactory lobe;BrainSpMouseDev|11708	OMIM|611513
IPC-nEN2	LRP8	1.44920414	8.89E-14	Cell surface receptor	BrainSpLMD|7804;BrainSpMouseDev|16745	OMIM|602600
IPC-nEN2	KCNQ3	1.793990221	9.65E-14	Voltage gated channel	BrainSpLMD|3786;Eurexp|euxassay_008387|mantle layer, marginal layer, midgut, rib, ventral grey horn;BrainSpMouseDev|75016	SFARI||Autism, 3 - Suggestive evidence;OMIM|602232;HPO|3786|Abnormality of vision, Autosomal dominant inheritance, Choreoathetosis, Deeply set eye, Dysesthesia, Dyskinesia, Focal clonic seizures, Generalized tonic-clonic seizures, Hypertonia, Muscular hypotonia, Myoclonus, Reduced consciousness/confusion, Seizures
IPC-nEN2	MLLT3	1.149146952	5.16E-13	Unclassified	BrainSpLMD|4300;Eurexp|euxassay_008130|adrenal gland, brain, ear, epithelium, hindgut, incisor, inner ear, lobe, metatarsus, molar, penis, rectum, rib, spinal cord, submandibular gland primordium, vibrissa	OMIM|159558;COSMIC||ALL
IPC-nEN2	NRN1	1.964567052	1.05E-12	Secreted polypeptide	BrainSpLMD|51299;Eurexp|euxassay_003207|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lobe, mantle layer, marginal layer, mesenchyme, midgut, penis, physiological umbilical hernia, rectum, stroma, trigeminal V, urethra, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|44246	OMIM|607409
IPC-nEN2	NREP	0.592623964	2.80E-12	Unclassified	BrainSpLMD|9315	OMIM|607332
IPC-nEN2	CORO1C	1.211068662	3.95E-12	Cytoskeletal associated protein	BrainSpLMD|23603	OMIM|605269
IPC-nEN2	MT.CO1	0.514790917	3.97E-12			
IPC-nEN2	TMEM158	1.833402665	4.90E-12	Unclassified	BrainSpLMD|25907	
IPC-nEN2	GPM6A	0.784560049	4.85E-10	Integral membrane protein	BrainSpLMD|2823;Eurexp|euxassay_005521|brain, diaphragm, epithelium, lip, mesenchyme, mesothelium, neural retina, olfactory, pericardial cavity, spinal cord, stroma	OMIM|601275
IPC-nEN2	UNC5D	1.38449241	6.19E-10	Unclassified	BrainSpLMD|137970;Eurexp|euxassay_012466|basal plate, clavicle, incisor, lip, mantle layer, molar, palatal shelf, respiratory, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|84240	OMIM|616466
IPC-nEN2	RPS14	0.307537462	6.97E-10	Ribosomal subunit	BrainSpLMD|6208	OMIM|130620;HPO|6208|Abnormality of cells of the megakaryocyte lineage, Autosomal dominant contiguous gene syndrome, Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Somatic mutation, Sporadic
IPC-nEN2	ENC1	0.94695276	7.05E-10	Structural protein	BrainSpLMD|8507;BrainSpMouseDev|13581	OMIM|605173
IPC-nEN2	CCND2	0.509285393	3.71E-09	Cell cycle control protein	BrainSpLMD|894	OMIM|123833;COSMIC||NHL, CLL;HPO|894|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Congenital onset, Depressed nasal bridge, Global developmental delay, High forehead, Hydrocephalus, Hypertelorism, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Prominent forehead, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
IPC-nEN2	SETD7	1.780655392	4.68E-09	Enzyme: Methyltransferase	BrainSpLMD|80854;BrainSpMouseDev|49092	OMIM|606594
IPC-nEN2	MT.CO3	0.401562859	7.46E-09			
IPC-nEN2	SEZ6	1.520203512	7.78E-09	Integral membrane protein	BrainSpLMD|124925	OMIM|616666
IPC-nEN2	MT.CO2	0.345609164	8.06E-09			
IPC-nEN2	PRDX1	1.306591366	8.42E-09	Enzyme: Peroxidase	BrainSpLMD|5052	OMIM|176763
IPC-nEN2	RPL7P9	0.45560289	1.43E-08			
IPC-nEN2	TMSB10	0.51534604	4.18E-08	Cytoskeletal associated protein	BrainSpLMD|9168	OMIM|188399
IPC-nEN2	CLVS1	1.794780679	5.83E-08	Unclassified	BrainSpLMD|157807	OMIM|611292
IPC-nEN2	SLC22A23	1.380050707	1.68E-07	Integral membrane protein	BrainSpLMD|63027	OMIM|611697
IPC-nEN2	SRSF6	0.260359386	1.81E-07	RNA binding protein	BrainSpLMD|6431;Eurexp|euxassay_012639|pituitary, ventricular layer, vibrissa	OMIM|601944
IPC-nEN2	BCL11B	0.622684957	4.58E-07	Transcription regulatory protein;DNA binding protein	BrainSpLMD|64919;BrainSpMouseDev|37240	OMIM|606558;COSMIC||T-ALL;HPO|64919|Absent speech, Autosomal dominant inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hirsutism, Hypertelorism, Inflammatory abnormality of the skin, Intellectual disability, Micrognathia, Natal tooth, Pulmonary artery stenosis, Seizures, Severe combined immunodeficiency, Short palpebral fissure, Spastic tetraplegia, Umbilical hernia, Wormian bones
IPC-nEN2	PTPRS	0.315369734	6.24E-07	Receptor tyrosine phosphatase	BrainSpLMD|5802;Eurexp|euxassay_009779|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|601576
IPC-nEN2	RCOR2	1.25296883	7.37E-07	DNA binding protein	BrainSpLMD|283248;Eurexp|euxassay_009808|clavicle, mandible, mantle layer, maxilla, olfactory, orbito-sphenoid, rib;BrainSpMouseDev|68548	OMIM|616019
IPC-nEN2	LINC01158	0.752475614	1.69E-06			
IPC-nEN2	EML6	1.895568086	1.97E-06	Unclassified	Eurexp|euxassay_002686|cervical, cervico-thoracic, diencephalon, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, olfactory, stroma, thoracic, trigeminal V, ventral grey horn	
IPC-nEN2	FOXJ3	1.183417246	2.02E-06	Transcription factor	BrainSpLMD|22887;BrainSpMouseDev|87088	OMIM|616035
IPC-nEN2	RP11.436K8.1	1.046157543	2.14E-06			
IPC-nEN2	TBR1	1.378710201	2.26E-06	Transcription factor	BrainSpLMD|10716;BrainSpMouseDev|21136	SFARI||Autism, 1 - High confidence;OMIM|604616;HPO|10716|Abnormality of oral frenula, Abnormality of the iris, Autistic behavior, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Cataract, Cleft palate, Coloboma, Downslanted palpebral fissures, Failure to thrive, Growth delay, Hand clenching, Hypertelorism, Intellectual disability, Long fingers, Low-set, posteriorly rotated ears, Microphthalmia, Neonatal hypotonia, Seizures, Severe global developmental delay, Short neck, Short philtrum, Small face, Small for gestational age, Toe syndactyly
IPC-nEN2	DCAF13	0.546624214	2.37E-06	Unclassified	BrainSpLMD|25879	OMIM|616196
IPC-nEN2	PLXNA2	1.078898121	2.84E-06	Cell surface receptor	BrainSpLMD|5362;Eurexp|euxassay_010018|brain, spinal cord;BrainSpMouseDev|18609	OMIM|601054
IPC-nEN2	FHDC1	2.128188907	3.26E-06	Cytoskeletal associated protein	BrainSpLMD|85462;Eurexp|euxassay_008555|left lung, oral epithelium, right lung	
IPC-nEN2	POU3F2	0.801985723	3.67E-06	Transcription factor	BrainSpLMD|5454;BrainSpMouseDev|18755	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600494
IPC-nEN2	ELMO1	1.083883519	3.78E-06	Unclassified;Motor protein	BrainSpLMD|9844;Eurexp|euxassay_012546|floor plate, floorplate, mantle layer, marginal layer, vibrissa	OMIM|606420
IPC-nEN2	MYT1	1.377773443	4.94E-06	Transcription factor	BrainSpLMD|4661;Eurexp|euxassay_005418|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, nerve, neural retina, olfactory, respiratory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|17699	OMIM|600379
IPC-nEN2	ZNF423	0.899717397	6.02E-06	DNA binding protein	BrainSpLMD|23090	OMIM|604557;HPO|23090|Apnea, Ataxia, Autistic behavior, Autosomal dominant inheritance, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Global developmental delay, Intellectual disability, Iris coloboma, Long face, Low-set, posteriorly rotated ears, Molar tooth sign on MRI, Muscular hypotonia, Nephronophthisis, Nephropathy, Nystagmus, Phenotypic variability, Polycystic kidney dysplasia, Ptosis, Retinal dystrophy, Tachypnea
IPC-nEN2	NEUROD2	0.408379761	7.46E-06	Transcription factor	BrainSpLMD|4761;Eurexp|euxassay_013855|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|17780	OMIM|601725
IPC-nEN2	RPL7P1	0.465577969	8.45E-06			
IPC-nEN2	DHX9	0.281876221	9.25E-06	Transcription factor	BrainSpLMD|1660;Eurexp|euxassay_010959|brain, cochlea, epithelium, facial VII, glossopharyngeal IX, incisor, left lung, marginal layer, metanephros, midgut, molar, olfactory, pancreas, pharyngo-tympanic tube, retina, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, utricle, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|603115
IPC-nEN2	CHRDL1	1.379956422	9.99E-06	Secreted polypeptide	BrainSpLMD|91851	OMIM|300350
IPC-nEN2	SYNE2	0.400633668	1.06E-05	Cytoskeletal protein	BrainSpLMD|23224;Eurexp|euxassay_010927|cochlea, metanephros, pericardial cavity, peritoneal cavity, renal/urinary system, utricle, ventricular layer	OMIM|608442;HPO|23224|Arrhythmia, Autosomal dominant inheritance, Cardiomyopathy, Childhood onset, Elevated serum creatine phosphokinase, Muscular dystrophy, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Respiratory insufficiency
IPC-nEN2	IDS	0.724466528	1.35E-05	Enzyme: Sulphohydrolase	BrainSpLMD|3423	OMIM|300823;HPO|3423|Abnormality of retinal pigmentation, Abnormality of the heart valves, Asthma, Cervical cord compression, Coarse facial features, Congestive heart failure, Delayed eruption of teeth, Dermatan sulfate excretion in urine, Diarrhea, Dysostosis multiplex, Flexion contracture, Hearing impairment, Heparan sulfate excretion in urine, Hepatomegaly, Hoarse voice, Hydrocephalus, Hypertrichosis, Inguinal hernia, Intellectual disability, profound, Intestinal pseudo-obstruction, Kyphosis, Macrocephaly, Macroglossia, Mild short stature, Neurodegeneration, Obstructive sleep apnea, Papilledema, Pes cavus, Ptosis, Recurrent otitis media, Scaphocephaly, Seizures, Severe short stature, Short neck, Short stature, Splenomegaly, Split hand, Thick lower lip vermilion, Tracheobronchomalacia, Umbilical hernia, Widely spaced teeth, X-linked recessive inheritance
IPC-nEN2	RND3	0.817941125	1.43E-05	G protein	BrainSpLMD|390	OMIM|602924
IPC-nEN2	NTM	1.069806409	1.52E-05	Adhesion molecule	BrainSpLMD|50863;Eurexp|euxassay_012548|axial skeleton, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, meninges, mesenchyme, neural retina, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|87964	OMIM|607938
IPC-nEN2	RAB12	0.772938116	1.59E-05	G protein		OMIM|616448
IPC-nEN2	PPP4R1	1.224294766	2.00E-05	Enzyme regulator	BrainSpLMD|9989	OMIM|604908
IPC-nEN2	LINC00478	1.084944023	2.26E-05			
IPC-nEN2	NEUROD1	1.456057473	2.54E-05	Transcription factor	BrainSpLMD|4760;Eurexp|euxassay_019467|dorsal grey horn, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, pancreas, pineal primordium, pituitary, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17779	OMIM|601724;HPO|4760|Autosomal dominant inheritance, Maturity-onset diabetes of the young
IPC-nEN2	CNR1	0.874217898	2.60E-05	G protein coupled receptor	BrainSpLMD|1268;BrainSpMouseDev|12584	SFARI||Autism, 3 - Suggestive evidence;OMIM|114610
IPC-nEN2	PDE1C	1.809830583	2.84E-05	Enzyme: Phosphodiesterase	BrainSpLMD|5137;BrainSpMouseDev|18341	SFARI||Autism, No category;OMIM|602987
IPC-nEN2	CDC5L	0.593430487	2.97E-05	Cell cycle control protein	BrainSpLMD|988	OMIM|602868
IPC-nEN2	SCHIP1	0.500714702	4.00E-05	Unclassified	BrainSpLMD|29970;Eurexp|euxassay_012101|aorta, bladder, brain, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, mantle layer, mesenchyme, metanephros, midgut, molar, neural retina, oesophagus, olfactory, pancreas, primitive seminiferous tubules, spinal cord, stomach, submandibular gland primordium, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vomeronasal organ	
IPC-nEN2	QSER1	0.716316471	4.15E-05	Unclassified	BrainSpLMD|79832	
IPC-nEN2	CNTNAP2	0.93355237	5.21E-05	Adhesion molecule	BrainSpLMD|26047;Eurexp|euxassay_011473|facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V	SFARI||Autism, 2 - Strong candidate;OMIM|604569;COSMIC||glioma, melanoma;HPO|26047|Cortical dysplasia, Delayed gross motor development, Hyperactivity, Impaired social interactions, Intellectual disability, Progressive language deterioration, Reduced tendon reflexes, Seizures
IPC-nEN2	MARK3	0.596112137	5.31E-05	Serine/threonine kinase	BrainSpLMD|4140	OMIM|602678
IPC-nEN2	MEX3A	0.503931661	5.59E-05	RNA binding protein	Eurexp|euxassay_010898|neural retina, olfactory, vomeronasal organ	OMIM|611007
IPC-nEN2	GTF2IP1	0.805086318	5.61E-05			
IPC-nEN2	PENK	1.385783119	6.36E-05	Peptide hormone	BrainSpLMD|5179;BrainSpMouseDev|18385	OMIM|131330
IPC-nEN2	AC009245.3	2.046108976	6.78E-05			
IPC-nEN2	ZDHHC17	0.481794215	7.01E-05	Unclassified	BrainSpLMD|23390	OMIM|607799
IPC-nEN2	SLA	0.585198313	7.05E-05	Adapter molecule	BrainSpLMD|6503	OMIM|601099
IPC-nEN2	MT.ATP6	0.300072678	7.15E-05			
IPC-nEN2	THSD7A	0.998760721	7.52E-05	Unclassified	Eurexp|euxassay_013737|calyces, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, mesenchyme, midgut, neural retina, olfactory, stomach, thyroid, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612249
IPC-nEN2	YWHAQ	0.661519407	8.05E-05	Adapter molecule	BrainSpLMD|10971	OMIM|609009
IPC-nEN2	KIF3C	0.999863831	8.30E-05	Motor protein	BrainSpLMD|3797;Eurexp|euxassay_010971|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602845
IPC-nEN2	TENM4	1.082291419	8.55E-05	Cell surface receptor		OMIM|610084;HPO|26011|Age-dependent penetrance, Autosomal dominant inheritance, Intention tremor, Postural tremor, Slow progression, Variable expressivity
IPC-nEN2	PREX1	0.830913341	8.66E-05	Guanine nucleotide exchange factor	BrainSpLMD|57580;Eurexp|euxassay_007998|femur, humerus, mandible, mantle layer, marginal layer, maxilla, orbito-sphenoid, palatal shelf, rib, ventricular layer	SFARI||Autism, 3 - Suggestive evidence;OMIM|606905
IPC-nEN2	PALMD	0.729065179	9.14E-05	Unclassified	BrainSpLMD|54873	OMIM|610182
IPC-nEN2	ANK3	1.215430698	0.000105759	Adapter molecule	BrainSpLMD|288;BrainSpMouseDev|11522	SFARI||Autism, No category;OMIM|600465;HPO|288|Aggressive behavior, Autosomal recessive inheritance, Bruxism, Generalized hypotonia, Hyperactivity, Intellectual disability, Intellectual disability, moderate, Spasticity
IPC-nEN2	CLMP	0.975150023	0.000106624		BrainSpLMD|79827;Eurexp|euxassay_001798|mantle layer, marginal layer	OMIM|611693;HPO|79827|Abnormal peristalsis, Autosomal recessive inheritance, Chronic diarrhea, Cognitive impairment, Congenital shortened small intestine, Decreased intestinal transit time, Failure to thrive, Hypotrichosis, Intestinal hypoplasia, Intestinal malrotation, Lipoatrophy, Short stature, Steatorrhea
IPC-nEN2	TCF25	0.292315	0.000112761	Unclassified	BrainSpLMD|22980;Eurexp|euxassay_011485|cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mandible, mantle layer, maxilla, molar, neural retina, orbito-sphenoid, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, vault of skull, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42698	OMIM|612326
IPC-nEN2	RPL7	0.439280306	0.000115637	Ribosomal subunit		OMIM|604166
IPC-nEN2	KPNA4	0.292427205	0.000117889	Transport/cargo protein	BrainSpLMD|3840	OMIM|602970
IPC-nEN2	PDHA1	1.17159703	0.00012048	Enzyme: Dehydrogenase	BrainSpLMD|5160	OMIM|300502;HPO|5160|Abnormality of eye movement, Agenesis of corpus callosum, Anteverted nares, Apneic episodes precipitated by illness, fatigue, stress, Basal ganglia cysts, Cerebral atrophy, Choreoathetosis, Chronic lactic acidosis, Decreased activity of the pyruvate dehydrogenase complex, Dystonia, Episodic ataxia, Flared nostrils, Frontal bossing, Generalized hypotonia, Global developmental delay, Hyperalaninemia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lethargy, Long philtrum, Microcephaly, Phenotypic variability, Ptosis, Seizures, Severe lactic acidosis, Small for gestational age, Ventriculomegaly, Wide nasal bridge, X-linked dominant inheritance
IPC-nEN2	CEP78	0.493215357	0.000122039	Unclassified		OMIM|617110;HPO|84131|Abnormal electroretinogram, Abnormality of cochlea, Astigmatism, Ataxia, Autosomal recessive inheritance, Cataract, Hemianopia, High-grade hypermetropia, Iris hypopigmentation, Macular degeneration, Nyctalopia, Nystagmus, Photophobia, Scotoma, Sensorineural hearing impairment, Vestibular hypofunction, Visual loss
IPC-nEN2	GNG4	1.505185875	0.000128576	G protein	BrainSpLMD|2786	OMIM|604388
IPC-nEN2	CUX2	0.304216657	0.000129479	Transcription factor	BrainSpMouseDev|12829	OMIM|610648
IPC-nEN2	PTPRK	1.576641561	0.000145884	Receptor tyrosine phosphatase	BrainSpLMD|5796;Eurexp|euxassay_009627|mantle layer, marginal layer, midgut, stomach, ventral grey horn, vibrissa;BrainSpMouseDev|19035	OMIM|602545;COSMIC||colorectal
IPC-nEN2	MIDN	0.601622408	0.000187877	Unclassified		OMIM|606700
IPC-nEN2	THBS1	0.58705337	0.000211697	Extracellular matrix protein	BrainSpLMD|7057;Eurexp|euxassay_005711|axial skeleton, clavicle, cranium, footplate, handplate, left lung, lip, liver, mesenchyme, naris, rest of mesenchyme, right lung, sternum, turbinate bones	SFARI||Autism, No category;OMIM|188060
IPC-nEN2	ZBTB18	0.291104706	0.000240164	Transcription regulatory protein	BrainSpLMD|10472	OMIM|608433;HPO|10472|Abnormality of the pinna, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Depressed nasal bridge, Epicanthus, Generalized hypotonia, Global developmental delay, Hypertelorism, Intellectual disability, Low-set ears, Microcephaly, Micrognathia, Prominent forehead, Round face, Seizures, Short stature, Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Variable expressivity
IPC-nEN2	SHFM1	0.429840743	0.000243069			
IPC-nEN2	GRIA2	0.276944668	0.000255311	Extracellular ligand gated channel	BrainSpLMD|2891;Eurexp|euxassay_010006|brain, dorsal root ganglion, molar, penis, skeletal muscle, spinal cord, trigeminal V, vagus X;BrainSpMouseDev|14576	OMIM|138247
IPC-nEN2	SPIRE1	0.74521847	0.000279418	Transport/cargo protein	BrainSpLMD|56907	OMIM|609216
IPC-nEN2	CHMP5	0.577126747	0.000287177	Transport/cargo protein	BrainSpLMD|51510	OMIM|610900
IPC-nEN2	RPL34	0.349000726	0.000292638	Ribosomal subunit	Eurexp|euxassay_007041|embryo	OMIM|616862
IPC-nEN2	HES6	1.082750689	0.000312082	Transcription regulatory protein	BrainSpLMD|55502;Eurexp|euxassay_018314|head mesenchyme, marginal layer, mesenchyme, molar, neural retina, olfactory, respiratory, retina, skeletal muscle, thymus primordium, trachea, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|35214	OMIM|610331
IPC-nEN2	MLLT11	0.460221047	0.000317914	Unclassified	BrainSpLMD|10962;Eurexp|euxassay_010405|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|604684;COSMIC||ALL;HPO|10962|Autosomal dominant inheritance, Juvenile myelomonocytic leukemia, Somatic mutation
IPC-nEN2	BAZ2B	0.518448666	0.000327596	Transcription regulatory protein	BrainSpLMD|29994;Eurexp|euxassay_011654|olfactory, vomeronasal organ	OMIM|605683
IPC-nEN2	CTC.308K20.3	0.274077424	0.000409042			
IPC-nEN2	TMSB4X	0.263242305	0.00041227	Cytoskeletal associated protein		OMIM|300159
IPC-nEN2	LZTS1	1.363086435	0.000452627	Unclassified	BrainSpLMD|11178;Eurexp|euxassay_011133|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|84266	OMIM|606551;HPO|11178|Autosomal dominant inheritance, Squamous cell carcinoma
IPC-nEN2	MEF2A	0.55034465	0.000472012	Transcription regulatory protein	BrainSpLMD|4205;BrainSpMouseDev|17027	OMIM|600660
IPC-nEN2	RPL34P18	0.326083706	0.000473088			
IPC-nEN2	H3F3AP4	0.526432935	0.000473559			
IPC-nEN2	SMARCD3	0.98856129	0.000486004	Transcription regulatory protein	BrainSpLMD|6604	OMIM|601737
IPC-nEN2	TUBB	0.49410288	0.000490598	Cytoskeletal protein	BrainSpLMD|203068	OMIM|191130;HPO|203068|Abnormality of cardiovascular system morphology, Abnormality of the skin, Ataxia, Autosomal dominant inheritance, Blepharophimosis, Brachycephaly, Cerebellar hypoplasia, Cleft palate, Congenital onset, Delayed speech and language development, Edema, Epicanthus, Flat face, Global developmental delay, High palate, Hypertelorism, Hypoplasia of the brainstem, Hypoplastic nipples, Increased number of skin folds, Intellectual disability, Irregular hyperpigmentation, Localized neuroblastoma, Low-set ears, Microcephaly, Motor delay, Narrow mouth, Periorbital fullness, Posteriorly rotated ears, Short neck, Short palpebral fissure, Thickened skin, Wide intermamillary distance
IPC-nEN2	TXNRD1	0.61661959	0.00049309	Enzyme: Oxidoreductase	BrainSpLMD|7296;Eurexp|euxassay_018922|axial muscle, clavicle, dorsal root ganglion, incisor, liver, lung, mandible, mantle layer, maxilla, molar, neural retina, olfactory, pancreas, pharyngo-tympanic tube, rib, submandibular gland primordium, thymus primordium, thyroid, ventral grey horn, ventricular layer, vibrissa	OMIM|601112
IPC-nEN2	EIF3H	0.701603686	0.000528993	Translation regulatory protein	BrainSpLMD|8667;Eurexp|euxassay_002980|axial skeleton	OMIM|603912
IPC-nEN2	RPL10	0.428915438	0.00056903	Ribosomal subunit	BrainSpLMD|6134;Eurexp|euxassay_015677|embryo	SFARI||Autism, 4 - Minimal evidence;OMIM|312173;COSMIC||T-ALL;HPO|6134|Abnormal facial shape, Ankle contracture, Branchial cyst, Camptodactyly, Cryptorchidism, Dental crowding, Finger syndactyly, Gastroesophageal reflux, Hypospadias, Knee flexion contracture, Laryngomalacia, Mandibular prognathia, Microcephaly, Muscular hypotonia, Protruding ear, Pulmonary artery stenosis, Recurrent infections, Sacral lipoma, Seizures, Self-injurious behavior, Sensorineural hearing impairment, Severe postnatal growth retardation, Single transverse palmar crease, Tapered finger, Thin upper lip vermilion
IPC-nEN2	AUTS2	0.556541414	0.000590627	Unclassified	BrainSpLMD|26053	SFARI||Autism, 3 - Suggestive evidence;OMIM|607270;HPO|26053|Abnormal facial shape, Arthrogryposis multiplex congenita, Autism, Autosomal dominant inheritance, Brachycephaly, Cerebral palsy, Decreased palmar creases, Delayed speech and language development, Downslanted palpebral fissures, Feeding difficulties, Global developmental delay, Highly arched eyebrow, Hypertelorism, Intellectual disability, Kyphosis, Low-set ears, Microcephaly, Narrow mouth, Prominent nasal tip, Ptosis, Scoliosis, Short palpebral fissure, Short philtrum, Short stature, Small for gestational age, Strabismus, Thick eyebrow, Wide nasal base
IPC-nEN2	RAD1	0.312618245	0.000600369	DNA exonuclease	BrainSpLMD|5810;Eurexp|euxassay_012280|ventricular layer	OMIM|603153
IPC-nEN2	GLCE	0.639443237	0.000660337	Enzyme: Epimerase	BrainSpLMD|26035;Eurexp|euxassay_014583|lip	OMIM|612134
IPC-nEN2	SNRPGP10	0.614687312	0.000681436			
IPC-nEN2	RBBP4P1	0.870447967	0.00074437			
IPC-nEN2	ITPR2	1.289227639	0.000860995	Transport/cargo protein	BrainSpLMD|3709;Eurexp|euxassay_013833|mantle layer	OMIM|600144;HPO|3709|Anhidrosis, Autosomal recessive inheritance, Generalized anhidrosis, Heat intolerance
IPC-nEN2	DOK6	0.981458523	0.000875318	Adapter molecule	BrainSpLMD|220164;Eurexp|euxassay_013254|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, spinal cord, trigeminal V	OMIM|611402
IPC-nEN2	SRP14	0.426779036	0.000903622	RNA binding protein	BrainSpLMD|6727;Eurexp|euxassay_001753|dorsal root ganglion, glossopharyngeal IX, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|600708
IPC-nEN2	LINC00883	1.0727433	0.000964367			
IPC-nEN2	TAGLN3	0.611375978	0.000998682	Cytoskeletal associated protein;Unclassified	BrainSpLMD|29114;Eurexp|euxassay_000750|dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, inferior, neural retina, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607953
IPC-nEN2	RPL7P23	0.358675583	0.001005871			
IPC-nEN2	ST6GAL2	0.779933282	0.001101095	Enzyme: Sialyltransferase	BrainSpLMD|84620	OMIM|608472
IPC-nEN2	PGAP1	0.717372094	0.001123833	Enzyme: Acyltransferase	BrainSpLMD|80055	OMIM|611655;HPO|80055|Abnormal electroretinogram, Abnormality of the dentition, Autosomal recessive inheritance, Cerebral atrophy, Global developmental delay, Intellectual disability, Macrotia, Microcephaly, Neonatal hypotonia, Retinal dystrophy, Short neck, Short stature, Wide mouth
IPC-nEN2	GTF2I	0.611097605	0.001133909	Transcription factor	BrainSpLMD|2969	SFARI||Autism, 4 - Minimal evidence;OMIM|601679;HPO|2969|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the neck, Anxiety, Arthralgia, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad forehead, Cerebral ischemia, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Dental malocclusion, Depressivity, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Epicanthus, Everted lower lip vermilion, Failure to thrive in infancy, Gait imbalance, Genu valgum, Hallux valgus, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Inguinal hernia, Insomnia, Intellectual disability, Joint stiffness, Kyphosis, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Microcephaly, Microdontia, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Open bite, Overfriendliness, Pelvic kidney, Periorbital edema, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Proteinuria, Protruding ear, Pulmonic stenosis, Redundant skin, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Visual impairment, Wide mouth, Wide nasal bridge
IPC-nEN2	PRKX	0.918893084	0.00115478	Serine/threonine kinase	BrainSpLMD|5613	OMIM|300083
IPC-nEN2	KCNN3	1.935486513	0.001220049	Intracellular ligand gated channel	BrainSpLMD|3782	OMIM|602983
IPC-nEN2	RPL7P32	1.260663231	0.001264038			
IPC-nEN2	C11orf73	0.487607127	0.001284847			
IPC-nEN2	H3F3C	0.392687219	0.001343578	Unclassified		OMIM|616134
IPC-nEN2	RPS27	0.261346787	0.001370616	Ribosomal subunit		OMIM|603702;HPO|6232|Abnormality of skin pigmentation, Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Anemia, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Macrocytic anemia, Migraine, Pallor
IPC-nEN2	CDON	0.885311885	0.001407994	Cell surface receptor	BrainSpLMD|50937;BrainSpMouseDev|37081	OMIM|608707;HPO|50937|Agenesis of corpus callosum, Autosomal dominant inheritance, Cleft lip, Cleft palate, Delayed puberty, Ectopic posterior pituitary, Failure to thrive, Global developmental delay, Holoprosencephaly, Hypoglycemia, Hypoplasia of penis, Hypotelorism, Hypothyroidism, Microcephaly, Polysplenia, Proptosis, Short stature, Sporadic, Synophrys, Thick eyebrow, Variable expressivity
IPC-nEN2	ZNF292	0.68665481	0.001444862	Transcription factor		SFARI||Autism, 4 - Minimal evidence;OMIM|616213
IPC-nEN2	MEIS2	0.368143313	0.001474804	Transcription factor	BrainSpLMD|4212;BrainSpMouseDev|17303	OMIM|601740;HPO|4212|2-3 toe syndactyly, Atrial septal defect, Autistic behavior, Autosomal dominant inheritance, Biparietal narrowing, Broad hallux, Broad thumb, Cleft palate, Cleft upper lip, Coarctation of aorta, Deeply set eye, Delayed speech and language development, Gastroesophageal reflux, Global developmental delay, High anterior hairline, Highly arched eyebrow, Intellectual disability, Large forehead, Microcephaly, Narrow forehead, Pointed chin, Sandal gap, Short 2nd finger, Short 5th finger, Short philtrum, Short stature, Smooth philtrum, Sparse eyebrow, Tented upper lip vermilion, Upslanted palpebral fissure, Ventricular septal defect
IPC-nEN2	PHC2	1.144077821	0.001581261	Ubiquitin proteasome system protein	BrainSpLMD|1912	OMIM|602979
IPC-nEN2	PPFIA2	1.156172888	0.001621339	Anchor protein	BrainSpLMD|8499	OMIM|603143
IPC-nEN2	RP5.1085F17.3	0.664140582	0.001762638			
IPC-nEN2	TLK2	0.984756797	0.001847275	Cell cycle control protein	BrainSpLMD|11011	SFARI||Autism, 5 - Hypothesized but untested;OMIM|608439
IPC-nEN2	AGTPBP1	0.52350436	0.001866687	Carboxypeptidase	BrainSpLMD|23287;Eurexp|euxassay_007611|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn	OMIM|606830
IPC-nEN2	GRAMD1B	1.21193894	0.002036682	Integral membrane protein	BrainSpLMD|57476;Eurexp|euxassay_016918|medulla, testis	
IPC-nEN2	CORO2B	1.150534294	0.00212517	Cytoskeletal associated protein	BrainSpLMD|10391	OMIM|605002
IPC-nEN2	STAG1	0.385134021	0.002127433	Cell cycle control protein	BrainSpLMD|10274	SFARI||Autism, No category;OMIM|604358;COSMIC||colorectal cancer, AML
IPC-nEN2	ELAVL3	0.647963793	0.002158204	RNA binding protein	BrainSpLMD|1995	SFARI||Autism, 3 - Suggestive evidence;OMIM|603458
IPC-nEN2	RP11.396K3.1	0.706506134	0.002247929			
IPC-nEN2	CYCS	0.276083686	0.002318022	Enzyme: Oxidase	BrainSpLMD|54205;Eurexp|euxassay_000644|Meckel's cartilage, basal plate, calyces, chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, molar, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|123970;HPO|54205|Autosomal dominant inheritance, Thrombocytopenia
IPC-nEN2	PSME1	0.278378349	0.002336923	Ubiquitin proteasome system protein	BrainSpLMD|5720	OMIM|600654
IPC-nEN2	LRCH2	0.454859437	0.002400171	Unclassified	BrainSpLMD|57631;Eurexp|euxassay_013951|anterior abdominal wall, bladder, brain, cortex, extrinsic, metanephros, spinal cord	
IPC-nEN2	ZNF704	0.385954078	0.002445308	Unclassified		
IPC-nEN2	GLS	0.51135288	0.002499719	Enzyme: Deaminase	BrainSpLMD|2744;BrainSpMouseDev|14436	OMIM|138280
IPC-nEN2	RP11.641D5.1	0.527800764	0.002552773			
IPC-nEN2	TMEM59	0.316927178	0.002744128	Unclassified	BrainSpLMD|9528;Eurexp|euxassay_008205|alveolar sulcus, axial skeleton, basal columns, clavicle, femur, floor plate, floorplate, mandible, mantle layer, maxilla, olfactory, orbito-sphenoid, pituitary, rib, stomach	OMIM|617084
IPC-nEN2	RYBP	1.126737693	0.002761572	Transcription regulatory protein	BrainSpLMD|23429;Eurexp|euxassay_019658|mantle layer, olfactory, vibrissa, vomeronasal organ;BrainSpMouseDev|35633	OMIM|607535
IPC-nEN2	XPO1	0.300369507	0.002799201	Transport/cargo protein	BrainSpLMD|7514	SFARI||Autism, 4 - Minimal evidence;OMIM|602559;COSMIC||CLL
IPC-nEN2	PTMAP5	0.366634015	0.002805128			
IPC-nEN2	MYT1L	0.328491496	0.00289326	Transcription factor	BrainSpLMD|23040;BrainSpMouseDev|17700	SFARI||Autism, 1 - High confidence;OMIM|613084;HPO|23040|Aggressive behavior, Autosomal dominant inheritance, Delayed speech and language development, Global developmental delay, Intellectual disability, Obesity
IPC-nEN2	CTR9	1.142919466	0.002897725	Transcription regulatory protein	BrainSpLMD|9646	OMIM|609366
IPC-nEN2	H3F3A	0.497631193	0.00309779	DNA binding protein		OMIM|601128;COSMIC||glioma
IPC-nEN2	ELOVL5	0.347657342	0.003178627	Unclassified	BrainSpLMD|60481	OMIM|611805;HPO|60481|Autosomal dominant inheritance, Cerebellar atrophy, Dysarthria, Gait ataxia, Limb ataxia, Nystagmus, Slow progression, Slow saccadic eye movements
IPC-nEN2	ATP6V1F	0.301161457	0.003406563	ATPase	BrainSpLMD|9296;Eurexp|euxassay_005209|dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory lobe, spinal cord, trigeminal V, vagus X	OMIM|607160
IPC-nEN2	RAD23B	0.383546081	0.003433519	DNA repair protein	BrainSpLMD|5887	OMIM|600062
IPC-nEN2	RP11.112J1.1	0.302411204	0.003570999			
IPC-nEN2	AC007318.5	0.252484	0.003606456			
IPC-nEN2	FDFT1	0.571251766	0.0036245	Enzyme: Synthase	BrainSpLMD|2222;Eurexp|euxassay_005703|calyces, cerebral cortex, cervical, cervico-thoracic, cochlear component, dorsal root ganglion, epithelium, facial VII, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, inferior, inner ear, lens, loop, mantle layer, mesenteric artery, midgut, molar, nucleus pulposus, retina, skeleton, stomach, superior, tegmentum, thoracic, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|184420
IPC-nEN2	MYNN	0.292969281	0.00362745	Transcription factor	BrainSpLMD|55892;Eurexp|euxassay_007036|embryo	OMIM|606042
IPC-nEN2	NDUFA6	0.403796375	0.003676376	Enzyme: Oxidoreductase	BrainSpLMD|4700	OMIM|602138
IPC-nEN2	ZNF462	0.368955057	0.003772463	Transcription regulatory protein	BrainSpLMD|58499;Eurexp|euxassay_016001|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, incisor, inner ear, mandible, mantle layer, mesenchyme, metanephros, molar, neural retina, penis, pharyngo-tympanic tube, submandibular gland primordium, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|88953	SFARI||Autism, 4 - Minimal evidence;OMIM|617371
IPC-nEN2	PCNXL4	0.35749501	0.003942609			
IPC-nEN2	PSMA7	0.498979882	0.004195828	Ubiquitin proteasome system protein	BrainSpLMD|5688	OMIM|606607
IPC-nEN2	CWC27	0.47241864	0.004215602	Enzyme: Isomerase	BrainSpLMD|10283	OMIM|617170;HPO|10283|Autosomal recessive inheritance, Brachydactyly, Craniosynostosis, Delayed speech and language development, Downslanted palpebral fissures, Feeding difficulties, Frontal bossing, Global developmental delay, Horseshoe kidney, Intellectual disability, Low-set ears, Macrotia, Metaphyseal chondrodysplasia, Micrognathia, Renal cyst, Rod-cone dystrophy, Short distal phalanx of finger, Short metacarpal, Short stature, Underdeveloped nasal alae, Ventricular septal defect
IPC-nEN2	MLLT4	0.58185448	0.00423234			
IPC-nEN2	SRRM4	0.956051569	0.004274705	Unclassified	BrainSpLMD|84530	SFARI||Autism, 5 - Hypothesized but untested;OMIM|613103
IPC-nEN2	ADRA2A	0.755344388	0.004362656	G protein coupled receptor	BrainSpLMD|150;Eurexp|euxassay_010849|basisphenoid bone, mantle layer, marginal layer, naris, nasal capsule, olfactory, ventral grey horn;BrainSpMouseDev|11338	OMIM|104210
IPC-nEN2	CHTOP	0.468896619	0.004369904	Unclassified	BrainSpLMD|26097	OMIM|614206
IPC-nEN2	TUBA1C	0.473939346	0.004523672	Cytoskeletal protein	BrainSpLMD|84790	
IPC-nEN2	ARL17A	0.486176151	0.004594371	-	BrainSpLMD|51326	
IPC-nEN2	RFX7	1.483927794	0.004637656	Unclassified	BrainSpLMD|64864	OMIM|612660
IPC-nEN2	FMR1	0.251945396	0.004768075	RNA binding protein	BrainSpLMD|2332;BrainSpMouseDev|14042	SFARI||Autism, No category;OMIM|309550;HPO|2332|Abnormal head movements, Abnormality of metabolism/homeostasis, Adult onset, Anxiety, Attention deficit hyperactivity disorder, Autism, Bowel incontinence, Bradykinesia, Bulbous nose, Cerebellar atrophy, Cerebral cortical atrophy, Chronic otitis media, Coarse facial features, Congenital macroorchidism, Cryptorchidism, Decreased testicular size, Deeply set eye, Delayed skeletal maturation, Dementia, Depressivity, Diffuse cerebellar atrophy, Diffuse cerebral atrophy, Disinhibition, Dysarthria, Dysautonomia, Dysdiadochokinesis, Dysesthesia, Dysmetria, Failure to thrive, Folate-dependent fragile site at Xq28, Frontal bossing, Gait ataxia, Gastroesophageal reflux, Global developmental delay, Gynecomastia, Hearing impairment, High pitched voice, Hyperactivity, Hypogonadism, Hyporeflexia, Hypothyroidism, Impaired distal vibration sensation, Impotence, Incomplete penetrance, Increased circulating gonadotropin level, Inertia, Intellectual disability, mild, Intellectual disability, moderate, Intention tremor, Intrauterine growth retardation, Joint laxity, Large forehead, Long face, Macrocephaly, Macroorchidism, Macroorchidism, postpubertal, Macrotia, Mandibular prognathia, Mask-like facies, Memory impairment, Menstrual irregularities, Mitral valve prolapse, Muscle weakness, Muscular hypotonia, Myalgia, Narrow face, Neurological speech impairment, Nystagmus, Obsessive-compulsive behavior, Obsessive-compulsive trait, Parkinsonism, Pectus excavatum, Periventricular gray matter heterotopia, Pes planus, Pollakisuria, Poor eye contact, Poor fine motor coordination, Postural tremor, Premature ovarian insufficiency, Protruding ear, Resting tremor, Rigidity, Saccadic smooth pursuit, Scoliosis, Seizures, Short foot, Short stature, Sinusitis, Small hand, Sparse body hair, Thin vermilion border, Truncal obesity, Urinary bladder sphincter dysfunction, Urinary incontinence, X-linked dominant inheritance, X-linked inheritance
IPC-nEN2	LRCH3	0.619844845	0.004835886	Unclassified	BrainSpLMD|84859	
IPC-nEN2	UGGT2	0.754293733	0.004836565	Enzyme: Glycosyltransferase	BrainSpLMD|55757	OMIM|605898
IPC-nEN2	HBP1	0.358677505	0.004850414	Transcription factor	BrainSpLMD|26959;BrainSpMouseDev|49230	OMIM|616714
IPC-nEN2	TUBBP1	0.356873067	0.004874665			
IPC-nEN2	NUMBL	0.665720969	0.005010905	Unclassified	BrainSpLMD|9253;BrainSpMouseDev|17990	OMIM|604018
IPC-nEN2	CCDC88C	1.106203666	0.005039872	Protease inhibitor	BrainSpLMD|440193;Eurexp|euxassay_016252|clavicle, femur, humerus, mandible, mantle layer, maxilla, orbito-sphenoid, rib, ventral grey horn	SFARI||Autism, 4 - Minimal evidence;OMIM|611204;HPO|440193|Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Broad-based gait, Congenital onset, Dysarthria, Dysdiadochokinesis, Hydrocephalus, Hyperreflexia, Intellectual disability, Intention tremor, Pontocerebellar atrophy, Seizures, Slow progression, Spastic paraparesis, Unsteady gait, Ventriculomegaly
IPC-nEN2	NKAIN1	0.870916882	0.005142972	Integral membrane protein	BrainSpLMD|79570	OMIM|612871
IPC-nEN2	RPL5P4	0.901856697	0.005337894			
IPC-nEN2	HNRNPH1	0.354217578	0.005547516	Ribonucleoprotein	BrainSpLMD|3187	OMIM|601035
IPC-nEN2	MECP2	0.304109242	0.005940474	DNA binding protein	BrainSpLMD|4204;Eurexp|euxassay_018349|dorsal root ganglion	SFARI||Autism, 2 - Strong candidate;OMIM|300005;HPO|4204|Abnormal T-wave, Abnormality of chromosome segregation, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of the antitragus, Abnormality of the dentition, Abnormality of the fingernails, Abnormality of the metacarpal bones, Absent speech, Anxiety, Aplasia/Hypoplasia of the cerebellum, Apnea, Apraxia, Ataxia, Autism, Autistic behavior, Babinski sign, Blepharophimosis, Brachycephaly, Bruxism, Cachexia, Camptodactyly of finger, Central hypoventilation, Cerebral cortical atrophy, Chorea, Choreoathetosis, Clinodactyly of the 5th finger, Congenital onset, Constipation, Cryptorchidism, Delayed skeletal maturation, Delayed speech and language development, Dementia, Depressed nasal bridge, Depressivity, Developmental regression, Drooling, Dysphagia, Dysphasia, Dystonia, EEG abnormality, Encephalopathy, Epicanthus, Everted lower lip vermilion, Excessive salivation, Facial hypotonia, Failure to thrive, Feeding difficulties in infancy, Fine hair, Gait apraxia, Gait ataxia, Gait disturbance, Gastroesophageal reflux, Global developmental delay, Hearing impairment, Hernia of the abdominal wall, High palate, Hyperreflexia, Hypospadias, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, mild, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Intermittent hyperventilation, Kyphosis, Long philtrum, Low-set ears, Macrocephaly, Macroorchidism, Macrotia, Malar flattening, Microcephaly, Micrognathia, Midface retrusion, Motor deterioration, Muscular hypotonia of the trunk, Myoclonus, Narrow mouth, Nephrolithiasis, Neurological speech impairment, Parkinsonism, Pectus excavatum, Pes cavus, Polymicrogyria, Poor eye contact, Postnatal microcephaly, Progressive, Progressive microcephaly, Progressive spasticity, Prolonged QTc interval, Psychosis, Ptosis, Recurrent respiratory infections, Respiratory insufficiency, Rigidity, Scoliosis, Seizures, Severe global developmental delay, Short foot, Short neck, Short stature, Shuffling gait, Skeletal muscle atrophy, Slow progression, Spastic gait, Spasticity, Stereotypy, Tented upper lip vermilion, Thick vermilion border, Tremor, Truncal ataxia, Underdeveloped nasal alae, Ventriculomegaly, Wide mouth, Wide nose, X-linked dominant inheritance, X-linked recessive inheritance
IPC-nEN2	LRRC75A.AS1	0.620827805	0.005984129			
IPC-nEN2	FAM13B	0.680237637	0.006008581	GTPase activating protein	BrainSpLMD|51306	OMIM|609371
IPC-nEN2	NBPF25P	0.536967736	0.006108021			
IPC-nEN2	MT.TC	0.495673528	0.006214545			
IPC-nEN2	MT.ATP8	0.287709658	0.006249625			
IPC-nEN2	RICTOR	0.546415027	0.006308264	Unclassified	BrainSpLMD|253260	OMIM|609022
IPC-nEN2	CSTB	0.42997369	0.006532616	Protease inhibitor	BrainSpLMD|1476;Eurexp|euxassay_009738|bladder, mandible, maxilla, stomach, thymus primordium	OMIM|601145;HPO|1476|Absence seizures, Ataxia, Autosomal recessive inheritance, Dysarthria, EEG with polyspike wave complexes, Generalized tonic-clonic seizures, Intention tremor, Limb ataxia, Mental deterioration, Morning myoclonic jerks, Myoclonus
IPC-nEN2	CLIP1	0.409521057	0.006583416	Structural protein	BrainSpLMD|6249	OMIM|179838;COSMIC||Spitzoid tumour
IPC-nEN2	ASF1A	0.389299233	0.00677716	Chaperone	BrainSpLMD|25842;Eurexp|euxassay_006843|cortex, incisor, left lung, marginal layer, oesophagus, right lung, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|609189
IPC-nEN2	USP48	0.386104017	0.006786729	Ubiquitin proteasome system protein	BrainSpLMD|84196	OMIM|617445
IPC-nEN2	MN1	0.255098658	0.007121286	Cell cycle control protein	BrainSpLMD|4330;Eurexp|euxassay_012879|axial skeleton, head mesenchyme, mantle layer, marginal layer, metacarpus, metatarsus, palatal shelf, phalanx, tarsus, ventral grey horn, ventricular layer, vibrissa	OMIM|156100;COSMIC||AML, meningioma;HPO|4330|Adult onset, Autosomal dominant inheritance, Incomplete penetrance, Meningioma
IPC-nEN2	SLC4A7	0.327199937	0.007164071	Transport/cargo protein	BrainSpLMD|9497	OMIM|603353
IPC-nEN2	IGF2BP2	0.254913182	0.007246787	RNA binding protein	BrainSpLMD|10644	OMIM|608289
IPC-nEN2	RPS21	0.517803366	0.00734153	Ribosomal subunit	BrainSpLMD|6227	OMIM|180477
IPC-nEN2	CD24	0.59444854	0.007624938		BrainSpLMD|100133941;BrainSpMouseDev|12269	OMIM|600074
IPC-nEN2	C5orf42	0.424611368	0.008295013	Unclassified	BrainSpLMD|65250	OMIM|614571;HPO|65250|Abnormality of peripheral nerve conduction, Accessory oral frenulum, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Brachydactyly, Broad nasal tip, Central Y-shaped metacarpal, Cerebellar vermis hypoplasia, Cleft palate, Cleft upper lip, Clinodactyly, Conductive hearing impairment, Degeneration of anterior horn cells, Distal upper limb amyotrophy, EMG abnormality, Epicanthus, Episodic tachypnea, Esotropia, Failure to thrive, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, High palate, Hypertelorism, Hyperventilation, Hypothalamic hamartoma, Intellectual disability, Long face, Low-set ears, Mesoaxial hand polydactyly, Micrognathia, Molar tooth sign on MRI, Muscle weakness, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Postaxial polydactyly, Posteriorly rotated ears, Preaxial foot polydactyly, Preaxial hand polydactyly, Radial deviation of finger, Renal agenesis, Renal dysplasia, Short stature, Toe syndactyly, Tongue nodules
IPC-nEN2	ST8SIA1	1.033266956	0.00829867	Enzyme: Sialyltransferase	BrainSpLMD|6489;Eurexp|euxassay_000637|dorsal root ganglion, inferior, superior, trigeminal V, vagus X	OMIM|601123
IPC-nEN2	POU3F3	0.800074528	0.008391233	Transcription factor	BrainSpLMD|5455;Eurexp|euxassay_019559|axial skeleton, ductus deferens, inner ear, larynx, lip, loop, lower, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, nasal septum, palatal shelf, penis, phalanx, rectum, skeletal muscle, trigeminal V, upper, ventricular layer;BrainSpMouseDev|18756	OMIM|602480
IPC-nEN2	GPR56	0.843548931	0.008467242			
IPC-nEN2	COMMD6	0.354886549	0.008754315	Unclassified	BrainSpLMD|170622	OMIM|612377
IPC-nEN2	FYTTD1	0.306719322	0.00879115	Unclassified	BrainSpLMD|84248;Eurexp|euxassay_000220|central nervous system, epidermal component, epithelium, liver, mesenchyme, olfactory	OMIM|616933
IPC-nEN2	CASK	0.275053109	0.008845755	Serine/threonine kinase	BrainSpLMD|8573	SFARI||Autism, 4 - Minimal evidence;OMIM|300172;HPO|8573|Absent speech, Broad forehead, Broad nasal tip, Cataract, Cerebellar hypoplasia, Cerebral cortical atrophy, Decreased body weight, Dilated fourth ventricle, Epicanthus, Gait disturbance, Generalized hypotonia, Global developmental delay, High palate, Hyperreflexia, Hypertelorism, Hypohidrosis, Intellectual disability, Intellectual disability, moderate, Large eyes, Long philtrum, Macrotia, Microcephaly, Micrognathia, Muscle weakness, Muscular hypotonia of the trunk, Myopia, Nystagmus, Oval face, Postnatal growth retardation, Progressive microcephaly, Prominent nasal bridge, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Short nose, Short stature, Spasticity, Strabismus, Visual impairment, Wide nasal bridge, X-linked dominant inheritance, X-linked inheritance
IPC-nEN2	TARBP1	0.68605264	0.009137976	RNA binding protein	BrainSpLMD|6894	OMIM|605052
IPC-nEN2	TRIM37	0.480782998	0.009145088	Ubiquitin proteasome system protein	BrainSpLMD|4591	OMIM|605073;HPO|4591|Absent frontal sinuses, Astigmatism, Autosomal recessive inheritance, Cachexia, Congestive heart failure, Dental crowding, Depressed nasal bridge, Dolichocephaly, Dysarthria, Frontal bossing, Hepatomegaly, High pitched voice, Hypertelorism, Hypodontia, Hypoplastic frontal sinuses, Intrauterine growth retardation, J-shaped sella turcica, Macrocephaly, Microglossia, Muscular hypotonia, Myocardial fibrosis, Nephroblastoma, Nevus, Pericardial constriction, Pigmentary retinopathy, Reduced tendon reflexes, Short stature, Strabismus, Triangular face, Ventriculomegaly, Weak voice, Wide nasal bridge
IPC-nEN2	SGIP1	0.471719403	0.009299588	Unclassified	BrainSpLMD|84251;Eurexp|euxassay_001827|brain, spinal cord, trigeminal V	OMIM|611540
IPC-nEN2	THUMPD3.AS1	1.052420349	0.009652249			
IPC-nEN2	SORBS1	0.805413275	0.009999738	Cell junction protein	BrainSpLMD|10580;Eurexp|euxassay_003610|axial skeleton, basisphenoid bone, bladder, brain, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, heart, hindlimb, incisor, lens, liver, lung, metanephros, midgut, nasal septum, oesophagus, olfactory, orbito-sphenoid, otic capsule, respiratory, retina, rib, spinal cord, sternum, stomach, tongue, trachea, trigeminal V, vagus X, vertebra, vertebral cartilage condensation, vestibulocochlear VIII;BrainSpMouseDev|20174	OMIM|605264
IPC-div1	CCNB1	3.03458355	0	Cell cycle control protein	BrainSpLMD|891	OMIM|123836
IPC-div1	CCNB2	3.01197562	0	Cell cycle control protein	BrainSpLMD|9133;Eurexp|euxassay_004323|axial muscle, ventricular layer	OMIM|602755
IPC-div1	KIF20A	3.007799098	0	Motor protein	BrainSpLMD|10112;Eurexp|euxassay_004675|ventricular layer	OMIM|605664
IPC-div1	CDCA8	3.005044095	0	Cell cycle control protein	BrainSpLMD|55143	OMIM|609977
IPC-div1	TTK	2.951749486	0	Dual specificity kinase	BrainSpLMD|7272	OMIM|604092
IPC-div1	UBE2C	2.934724634	0	Ubiquitin proteasome system protein	BrainSpLMD|11065	OMIM|605574
IPC-div1	KIF4A	2.932952044	0	DNA binding protein	BrainSpLMD|24137;Eurexp|euxassay_017959|Meckel's cartilage, chondrocranium, incisor, nasal capsule	OMIM|300521;HPO|24137|Abnormal facial shape, Intellectual disability, Poor speech, Seizures, X-linked recessive inheritance
IPC-div1	ECT2	2.918132824	0	Guanine nucleotide exchange factor	BrainSpLMD|1894;Eurexp|euxassay_018792|marginal layer, ventricular layer	OMIM|600586
IPC-div1	AURKA	2.892105383	0	Serine/threonine kinase	BrainSpLMD|6790;Eurexp|euxassay_018753|orbito-sphenoid, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|603072
IPC-div1	PLK1	2.891428355	0	Serine/threonine kinase	BrainSpLMD|5347	OMIM|602098
IPC-div1	GTSE1	2.864434363	0	Unclassified	BrainSpLMD|51512	OMIM|607477
IPC-div1	CDC20	2.859771	0	Cell cycle control protein	BrainSpLMD|991;Eurexp|euxassay_005724|hypothalamus, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|603618
IPC-div1	NEK2	2.857466277	0	Serine/threonine kinase	BrainSpLMD|4751	OMIM|604043;HPO|4751|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
IPC-div1	FAM64A	2.823382188	0			
IPC-div1	ASPM	2.81111539	0	Unclassified	BrainSpLMD|259266	SFARI||Autism, 3 - Suggestive evidence;OMIM|605481;HPO|259266|Abnormal cortical bone morphology, Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Congenital onset, Cortical gyral simplification, Delayed speech and language development, Global developmental delay, Heterotopia, Highly arched eyebrow, Hyperreflexia, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Motor delay, Narrow forehead, Pachygyria, Proptosis, Short stature, Sloping forehead, Small cerebral cortex, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
IPC-div1	TPX2	2.800534314	0	Cell cycle control protein	BrainSpLMD|22974	OMIM|605917
IPC-div1	CENPF	2.766902577	0	Cell cycle control protein	BrainSpLMD|1063	OMIM|600236
IPC-div1	CEP55	2.761049887	0	Unclassified	BrainSpLMD|55165	OMIM|610000;HPO|55165|2-3 toe syndactyly, Autosomal recessive inheritance, Hydranencephaly, Renal agenesis, Renal dysplasia, Renal hypoplasia
IPC-div1	KIF2C	2.755379839	0	Motor protein	BrainSpLMD|11004;Eurexp|euxassay_003601|4th ventricle, bladder, forebrain, hindbrain, hindlimb, incisor, limb, liver, lung, metanephros, midbrain, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pancreas, penis, pharyngo-tympanic tube, respiratory, retina, spinal cord, submandibular gland primordium, testis, thymus primordium, thyroid, tongue, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|604538
IPC-div1	TROAP	2.724622103	0	Adhesion molecule	BrainSpLMD|10024	OMIM|603872
IPC-div1	NUF2	2.716802448	0	Cytoskeletal associated protein;Cell cycle control protein	BrainSpLMD|83540	OMIM|611772
IPC-div1	BIRC5	2.705573707	0	Adapter molecule	BrainSpLMD|332	OMIM|603352
IPC-div1	HJURP	2.703463679	0	Unclassified	BrainSpLMD|55355	OMIM|612667
IPC-div1	CKAP2L	2.6568054	0	Unclassified	BrainSpLMD|150468;Eurexp|euxassay_002011|thymus primordium, ventricular layer	OMIM|616174;HPO|150468|2-4 toe syndactyly, Aphasia, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Broad forehead, Cerebellar atrophy, Clinodactyly of the 5th finger, Cryptorchidism, Decreased body weight, Delayed skeletal maturation, Dysphasia, Dystonia, Echolalia, Finger syndactyly, Frontal bossing, Frontal hirsutism, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Low hanging columella, Microcephaly, Microdontia, Mutism, Optic atrophy, Postnatal growth retardation, Prominent forehead, Prominent nasal bridge, Proptosis, Seizures, Severe short stature, Short philtrum, Single transverse palmar crease, Specific learning disability, Thin vermilion border, Underdeveloped nasal alae, Ventricular septal defect, Visual impairment, Wide nasal bridge, Wide nose
IPC-div1	BUB1	2.651743897	0	Serine/threonine kinase	BrainSpLMD|699;Eurexp|euxassay_018012|3rd ventricle, 4th ventricle, adrenal gland, cochlea, cochlear duct, cortex, foregut-midgut junction, incisor, liver, liver and biliary system, loop, lung, metanephros, midgut, molar, naris, pancreas, penis, retina, rib, submandibular gland primordium, testis, thymus primordium, tongue, turbinate bones, ventricular layer, vibrissa	OMIM|602452;HPO|699|Abnormality of vision, Ascites, Cataract, Corneal opacity, Dandy-Walker malformation, Epicanthus, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Polyhydramnios, Short stature, Triangular face
IPC-div1	SGOL2	2.634088151	0			
IPC-div1	BUB1B	2.627415675	0	Serine/threonine kinase	BrainSpLMD|701;Eurexp|euxassay_018755|cortex, ear, hindgut, incisor, lobe, lung, mandible, marginal layer, maxilla, midgut, molar, neural retina, oesophagus, olfactory, orbito-sphenoid, pancreas, rectum, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, trachea, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ, wall	OMIM|602860;COSMIC||rhabdomyosarcoma;HPO|701|Abnormality of vision, Agenesis of corpus callosum, Ambiguous genitalia, Anteverted nares, Ascites, Autosomal recessive inheritance, Bifid scrotum, Brachycephaly, Cataract, Cerebellar hypoplasia, Cerebral hypoplasia, Cleft palate, Combined immunodeficiency, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Epicanthus, Feeding difficulties in infancy, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Glaucoma, Global developmental delay, Hereditary nonpolyposis colorectal carcinoma, High forehead, Hydrocephalus, Hypertelorism, Hypodysplasia of the corpus callosum, Hypospadias, Increased nuchal translucency, Intellectual disability, Intellectual disability, profound, Intrauterine growth retardation, Leukemia, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Muscular dystrophy, Neoplasm of the stomach, Nephroblastoma, Nystagmus, Oligohydramnios, Phenotypic variability, Polyhydramnios, Posteriorly rotated ears, Postnatal growth retardation, Premature chromatid separation, Renal cell carcinoma, Renal cyst, Rhabdomyosarcoma, Severe global developmental delay, Short neck, Short nose, Short stature, Short sternum, Small for gestational age, Transitional cell carcinoma of the bladder, Triangular face, Triangular mouth, Upslanted palpebral fissure, Uterine leiomyosarcoma, Ventriculomegaly, Wide nose
IPC-div1	SPAG5	2.613236983	0	Cytoskeletal associated protein	BrainSpLMD|10615	OMIM|615562
IPC-div1	TOP2A	2.5956809	0	Enzyme: Topoisomerase	BrainSpLMD|7153	OMIM|126430;HPO|7153|Elevated urinary catecholamines, Neoplasm of the nervous system
IPC-div1	MKI67	2.5833791	0	Cell cycle control protein	BrainSpLMD|4288	OMIM|176741
IPC-div1	CENPE	2.567643898	0	DNA binding protein	BrainSpLMD|1062	OMIM|117143;HPO|1062|Abnormality of dental enamel, Absent earlobe, Autosomal recessive inheritance, Cachexia, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Hip dysplasia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Metaphyseal sclerosis, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Partial agenesis of the corpus callosum, Prematurely aged appearance, Prominent nose, Reduced number of teeth, Round face, Sandal gap, Seizures, Short foot, Short stature, Sloping forehead, Small hand, Sparse scalp hair
IPC-div1	CDCA2	2.537550821	0	Unclassified	BrainSpLMD|157313;Eurexp|euxassay_000111|cortex, marginal layer, metanephros, midbrain, thalamus, ventricular layer	
IPC-div1	CDKN3	2.535539784	0	Dual specificity phosphatase	BrainSpLMD|1033;Eurexp|euxassay_014422|axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, orbito-sphenoid, pelvic girdle, temporal bone, tibia, turbinate, vault of skull	OMIM|123832
IPC-div1	RTKN2	2.519687301	0	Unclassified	BrainSpLMD|219790	
IPC-div1	SGOL1	2.504311408	0			
IPC-div1	ARHGAP11B	2.488457554	0	Unclassified		SFARI||Autism, No category;OMIM|616310
IPC-div1	ARHGAP11A	2.487068262	0	GTPase activating protein	BrainSpLMD|9824;Eurexp|euxassay_018145|excretory component, hindgut, incisor, mantle layer, marginal layer, meninges, midgut, molar, neural retina, olfactory, stomach, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|610589
IPC-div1	KIF11	2.484682316	0	Motor protein	BrainSpLMD|3832	OMIM|148760;HPO|3832|Abnormal toenail morphology, Abnormality of retinal pigmentation, Anteverted nares, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Broad nasal tip, Chorioretinal dysplasia, Cortical gyral simplification, Deep philtrum, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Flat occiput, Global developmental delay, Intellectual disability, Intellectual disability, mild, Leukonychia, Long philtrum, Lymphedema, Mandibular prognathia, Melanonychia, Microcephaly, Muscular hypotonia, Myopia, Protruding ear, Sloping forehead, Specific learning disability, Thick lower lip vermilion, Thin upper lip vermilion
IPC-div1	PENK	2.482915885	0	Peptide hormone	BrainSpLMD|5179;BrainSpMouseDev|18385	OMIM|131330
IPC-div1	PTTG1	2.465678754	0	Transcription regulatory protein	BrainSpLMD|9232	OMIM|604147
IPC-div1	CDC25C	2.435738489	0	Dual specificity phosphatase	BrainSpLMD|995	OMIM|157680
IPC-div1	NUSAP1	2.394856221	0	Cell cycle control protein	BrainSpLMD|51203	OMIM|612818
IPC-div1	PRR11	2.381610594	0	Unclassified	BrainSpLMD|55771	OMIM|615920
IPC-div1	PRC1	2.363033429	0	Cell cycle control protein	BrainSpLMD|9055	OMIM|603484
IPC-div1	CDK1	2.360650807	0	Serine/threonine kinase	BrainSpLMD|983	OMIM|116940
IPC-div1	AURKB	2.356512923	0	Serine/threonine kinase	BrainSpLMD|9212	OMIM|604970
IPC-div1	CASC5	2.350859234	0			
IPC-div1	KIF23	2.350154273	0	Motor protein	BrainSpLMD|9493;Eurexp|euxassay_006188|incisor, lung, mantle layer, marginal layer, olfactory, submandibular gland primordium, thymus primordium, thyroid, ventricular layer	OMIM|605064;HPO|9493|Abnormal cellular phenotype, Abnormal proerythroblast morphology, Anemia, Anisocytosis, Fatigue, Hyperbilirubinemia, Increased mean corpuscular volume, Increased serum iron, Increased total iron binding capacity, Poikilocytosis
IPC-div1	KIF14	2.314966206	0	Motor protein	BrainSpLMD|9928	OMIM|611279;HPO|9928|Agenesis of corpus callosum, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral hypoplasia, Intrauterine growth retardation, Microcephaly, Oligohydramnios, Renal agenesis, Renal hypoplasia, Rocker bottom foot, Sloping forehead
IPC-div1	PPP1R17	2.292595103	0	Unclassified	BrainSpLMD|10842;Eurexp|euxassay_003055|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, stroma, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|604088
IPC-div1	EOMES	2.280672059	0	Transcription factor	BrainSpLMD|8320;BrainSpMouseDev|13591	OMIM|604615
IPC-div1	KNSTRN	2.271594771	0	Unclassified		OMIM|614718;COSMIC||SCC
IPC-div1	NCAPG	2.245276827	0	DNA binding protein	BrainSpLMD|64151;Eurexp|euxassay_013748|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|606280
IPC-div1	IQGAP3	2.211840904	0	GTPase activating protein	BrainSpLMD|128239	SFARI||Autism, 4 - Minimal evidence
IPC-div1	KPNA2	2.209549115	0	Transport/cargo protein	BrainSpLMD|3838	OMIM|600685
IPC-div1	KIF18A	2.198805153	0	Motor protein	BrainSpLMD|81930	OMIM|611271
IPC-div1	SPC24	2.176571285	0	Cell cycle control protein	BrainSpLMD|147841;Eurexp|euxassay_006353|ventricular layer	OMIM|609394
IPC-div1	DLGAP5	2.168729277	0	Cell cycle control protein	BrainSpLMD|9787	
IPC-div1	HMGB2	2.160529068	0	Transcription regulatory protein	BrainSpLMD|3148;Eurexp|euxassay_019251|incisor, lobe, lung, marginal layer, metanephros, molar, neural retina, oesophagus, pancreas, pituitary, submandibular gland primordium, thymus primordium, thyroid, trachea, turbinate bones, valve, ventricle, ventricular layer, vertebral axis muscle system	OMIM|163906
IPC-div1	NDC80	2.143316588	0	Cell cycle control protein	BrainSpLMD|10403;Eurexp|euxassay_006923|embryo	OMIM|607272
IPC-div1	MAD2L1	2.111654884	0	Cell cycle control protein	BrainSpLMD|4085	OMIM|601467
IPC-div1	CKAP2	2.110962711	0	Cytoskeletal associated protein	BrainSpLMD|26586;Eurexp|euxassay_001740|thymus primordium, ventricular layer	OMIM|611569
IPC-div1	MIS18BP1	2.069032086	0	Transcription regulatory protein	BrainSpLMD|55320;Eurexp|euxassay_004198|ventricular layer	
IPC-div1	SMC4	2.046178222	0	Structural protein	BrainSpLMD|10051;Eurexp|euxassay_017379|incisor, liver, lung, metanephros, molar, neural retina, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|605575
IPC-div1	KIF22	2.019893391	0	DNA binding protein	BrainSpLMD|3835	OMIM|603213;HPO|3835|Abnormal calcification of the carpal bones, Abnormality of the patella, Abnormality of the sacrum, Anteverted nares, Autosomal dominant inheritance, Broad distal phalanx of finger, Carpal bone hypoplasia, Caudal interpedicular narrowing, Congenital hip dislocation, Delayed patellar ossification, Delayed phalangeal epiphyseal ossification, Depressed nasal bridge, Dislocated radial head, Enlarged thorax, Flared metaphysis, Flat capital femoral epiphysis, Frontal bossing, Generalized hypotonia, Genu valgum, Global developmental delay, Hip dislocation, Hypoplasia of the capital femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Joint laxity, Kyphosis, Large joint dislocations, Laryngeal stenosis, Laryngotracheomalacia, Long distal phalanx of finger, Long proximal phalanx of finger, Macrocephaly, Malar flattening, Metaphyseal irregularity, Micromelia, Midface retrusion, Nail dysplasia, Narrow femoral neck, Osteoarthritis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Short nose, Short stature, Skeletal dysplasia, Slender distal phalanx of finger, Slender metacarpals, Slender proximal phalanx of finger, Small epiphyses, Soft skin, Spinal dysraphism, Spondyloepimetaphyseal dysplasia, Streaky metaphyseal sclerosis, Wide nose
IPC-div1	UBE2T	2.018430541	0	Ubiquitin proteasome system protein	BrainSpLMD|29089;Eurexp|euxassay_004872|olfactory, respiratory, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|610538;HPO|29089|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bone marrow hypocellularity, Duplication of thumb phalanx, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pancytopenia, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Thrombocytopenia
IPC-div1	PBK	2.001216811	0	Serine/threonine kinase	BrainSpLMD|55872;Eurexp|euxassay_018747|adrenal gland, cervical, cervico-thoracic, incisor, liver, mandible, marginal layer, maxilla, metanephros, molar, naris, neural retina, olfactory, pancreas, sublingual gland primordium, thoracic, thymus primordium, thyroid, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|611210
IPC-div1	RACGAP1	1.986645559	0	GTPase activating protein	BrainSpLMD|29127;Eurexp|euxassay_005572|dorsal grey horn, ventricular layer	OMIM|604980
IPC-div1	CKS2	1.966543584	0	Cell cycle control protein	BrainSpLMD|1164	OMIM|116901
IPC-div1	TRIM59	1.940905039	0	Ubiquitin proteasome system protein		OMIM|616148
IPC-div1	G2E3	1.93621171	0	Enzyme: Ligase	BrainSpLMD|55632	OMIM|611299
IPC-div1	KIF15	1.930658763	0	Cell cycle control protein	BrainSpLMD|56992	OMIM|617569
IPC-div1	DBF4	1.872141358	0	Cell cycle control protein	BrainSpLMD|10926;Eurexp|euxassay_012740|ventricular layer	OMIM|604281
IPC-div1	ANLN	1.862607887	0	Structural protein	BrainSpLMD|54443;Eurexp|euxassay_004352|ventricular layer	OMIM|616027;HPO|54443|Autosomal dominant inheritance, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease
IPC-div1	ARL6IP1	1.771781053	0	Membrane transport protein	BrainSpLMD|23204	OMIM|607669;HPO|23204|Absent Achilles reflex, Autosomal recessive inheritance, Difficulty walking, Hyperactive patellar reflex, Inability to walk, Scissor gait, Sensory neuropathy, Spastic paraplegia
IPC-div1	KIAA1524	1.731928223	0			
IPC-div1	HMGN2P5	1.70191718	0			
IPC-div1	KIF20B	1.676171462	0	Cell cycle control protein	BrainSpLMD|9585	OMIM|605498
IPC-div1	ANP32E	1.582250473	0	Unclassified	BrainSpLMD|81611	OMIM|609611
IPC-div1	TMPO	1.577977951	0	Peptide hormone	BrainSpLMD|7112	OMIM|188380;HPO|7112|Autosomal dominant inheritance, Dilated cardiomyopathy, Reduced systolic function
IPC-div1	HMGN2	1.474612539	0	Transcription regulatory protein	BrainSpLMD|3151;Eurexp|euxassay_007442|embryo;BrainSpMouseDev|15106	OMIM|163910
IPC-div1	SMC2	1.460197995	0	Unclassified	BrainSpLMD|10592;Eurexp|euxassay_011062|cortex, dorsal grey horn, incisor, lobe, lung, marginal layer, molar, orbito-sphenoid, submandibular gland primordium, thymus primordium, turbinate bones, ventral grey horn, ventricular layer, vibrissa	OMIM|605576
IPC-div1	H2AFZ	1.235409254	0	DNA binding protein	BrainSpLMD|3015	OMIM|142763
IPC-div1	MZT1	1.813979915	1.11E-16	Unclassified		OMIM|613448
IPC-div1	HMGB3	1.49274685	1.11E-16	DNA binding protein	BrainSpLMD|3149;BrainSpMouseDev|15129	OMIM|300193;HPO|3149|Abnormality of the pinna, Anteverted ears, Coloboma, Esotropia, Global developmental delay, Intellectual disability, Microcephaly, Microcornea, Microphthalmia, Pendular nystagmus, Ptosis, Short stature, X-linked inheritance
IPC-div1	KIF4B	1.445408286	1.11E-16	Motor protein		OMIM|609184
IPC-div1	CDC20P1	0.831442264	1.11E-16			
IPC-div1	GAS2L3	1.487334453	2.22E-16	Cytoskeletal protein	BrainSpLMD|283431	OMIM|617224
IPC-div1	PAX6	1.332947607	2.22E-16	Transcription factor	BrainSpLMD|5080;BrainSpMouseDev|18274	SFARI||Autism, No category;OMIM|607108;HPO|5080|Abnormal best corrected visual acuity test, Abnormality of movement, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the vagina, Abnormality of vision, Amblyopia, Aniridia, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the macula, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Cerebellar hypoplasia, Chorioretinal coloboma, Congenital glaucoma, Congenital nystagmus, Contiguous gene syndrome, Corneal opacity, Cryptorchidism, Displacement of the external urethral meatus, EEG abnormality, Everted lower lip vermilion, Generalized hyperpigmentation, Glaucoma, Global developmental delay, Hearing abnormality, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Hypoplasia of the iris, Hypospadias, Intellectual disability, Keratitis, Mask-like facies, Microcephaly, Micrognathia, Motor delay, Muscular hypotonia, Nephroblastoma, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Optic disc hypoplasia, Optic nerve aplasia, Optic nerve coloboma, Optic nerve hypoplasia, Peripheral vitreous opacities, Peters anomaly, Postural tremor, Presenile cataracts, Pseudopapilledema, Ptosis, Reduced visual acuity, Retinal detachment, Scanning speech, Short stature, Slurred speech, Somatic mutation, Strabismus, Streak ovary, Visual impairment, Visual loss
IPC-div1	HMGB1	0.862047147	2.22E-16	DNA binding protein	BrainSpMouseDev|15064	OMIM|163905
IPC-div1	NFIA	0.724342953	2.22E-16	Transcription factor	BrainSpLMD|4774;BrainSpMouseDev|17794	SFARI||Autism, 4 - Minimal evidence;OMIM|600727;HPO|4774|Agenesis of corpus callosum, Anteverted nares, Arnold-Chiari type I malformation, Broad face, Broad forehead, Cognitive impairment, Cutis marmorata, Generalized hypotonia, Global developmental delay, Hydronephrosis, Hypoplasia of the corpus callosum, Inguinal hernia, Intellectual disability, Low-set ears, Macrocephaly, Narrow mouth, Phenotypic variability, Renal hypoplasia, Seizures, Short chin, Short nose, Sporadic, Syringomyelia, Thin upper lip vermilion, Ventriculomegaly, Vesicoureteral reflux
IPC-div1	CIT	2.08146529	3.33E-16	Serine/threonine kinase	BrainSpLMD|11113;Eurexp|euxassay_014352|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, cervical region, clavicle, femur, fibula, humerus, hyoid bone, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, thyroid, tibia, turbinate bones, vault of skull;BrainSpMouseDev|12488	OMIM|605629;HPO|11113|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Bulbous nose, Cerebellar hypoplasia, Congenital onset, Cortical gyral simplification, Failure to thrive, Global developmental delay, Heterotopia, Hyperreflexia, Hypertelorism, Hypoplasia of the brainstem, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Macrotia, Microcephaly, Pachygyria, Renal agenesis, Short stature, Sloping forehead, Spasticity, Thick vermilion border, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vesicoureteral reflux
IPC-div1	SKA3	1.462048831	6.66E-16	Unclassified	BrainSpLMD|221150;Eurexp|euxassay_011780|brain, choroid invagination, left lung, mantle layer, right lung, ventricle, vertebral axis muscle system	
IPC-div1	TUBA1B	1.338854585	6.66E-16	Structural protein	BrainSpLMD|10376	OMIM|602530
IPC-div1	AC120042.1	1.845394533	7.77E-16			
IPC-div1	NEUROD4	2.60588478	1.11E-15	Transcription factor	BrainSpLMD|58158;Eurexp|euxassay_019457|intermediate grey horn, lung, neural retina, pineal primordium, pituitary, ventricular layer;BrainSpMouseDev|11709	OMIM|611635
IPC-div1	CKAP5	1.253199655	1.11E-15	Cytoskeletal associated protein	BrainSpLMD|9793;Eurexp|euxassay_011048|cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, molar, olfactory, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|611142
IPC-div1	FANCD2	1.709439383	1.22E-15	Cell cycle control protein	BrainSpLMD|2177	OMIM|613984;COSMIC||AML, leukaemia;HPO|2177|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of skin pigmentation, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anemia, Anemic pallor, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bruising susceptibility, Cafe-au-lait spot, Chromosomal breakage induced by crosslinking agents, Complete duplication of thumb phalanx, Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Duplicated collecting system, Ectopic kidney, Esophageal atresia, Global developmental delay, Hearing impairment, Horseshoe kidney, Hypergonadotropic hypogonadism, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukemia, Leukopenia, Microcephaly, Microphthalmia, Neutropenia, Pancytopenia, Prolonged G2 phase of cell cycle, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Reticulocytopenia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Small for gestational age, Strabismus, Thrombocytopenia, Tracheoesophageal fistula
IPC-div1	DDX39A	1.800307519	2.33E-15	RNA helicase	BrainSpLMD|10212	
IPC-div1	RAD21	1.419377307	2.44E-15	DNA binding protein	BrainSpLMD|5885	OMIM|606462;COSMIC||AML, endometrium, colorectal, lung, Cornelia de Lange syndrome-4;HPO|5885|Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Clinodactyly of the 5th finger, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downturned corners of mouth, Elbow dislocation, Exostoses, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phenotypic variability, Phthisis bulbi, Premature birth, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Smooth philtrum, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Vesicoureteral reflux, Wide nasal bridge, Widely spaced teeth
IPC-div1	MELK	2.065835002	2.55E-15	Serine/threonine kinase	BrainSpLMD|9833;Eurexp|euxassay_018584|4th ventricle, choroid plexus, clavicle, cortex, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, hindgut, incisor, left, loop, lumen, mandible, mantle layer, maxilla, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, pancreas, rectum, renal/urinary system, respiratory, right, stomach, submandibular gland primordium, testis, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|607025
IPC-div1	CENPN	1.290677642	2.55E-15	Unclassified	BrainSpLMD|55839	OMIM|611509
IPC-div1	DEPDC1	2.273999463	3.33E-15	Unclassified	BrainSpLMD|55635	OMIM|612002
IPC-div1	VRK1	1.494286607	3.33E-15	Serine/threonine kinase	BrainSpLMD|7443	OMIM|602168;HPO|7443|Abnormality of the foot, Ataxia, Autosomal recessive inheritance, Basal ganglia gliosis, Cerebellar hypoplasia, Congenital contracture, Congenital onset, Degeneration of anterior horn cells, EMG: neuropathic changes, Fasciculations, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hyperreflexia, Hypoplasia of the pons, Hypoplasia of the ventral pons, Intellectual disability, Muscle weakness, Neuronal loss in basal ganglia, Progressive, Respiratory insufficiency, Spinal muscular atrophy
IPC-div1	NDE1	2.236958947	3.89E-15	Cytoskeletal associated protein	BrainSpLMD|54820;Eurexp|euxassay_010375|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ;BrainSpMouseDev|43046	OMIM|609449;HPO|54820|Agenesis of corpus callosum, Athetosis, Autosomal recessive inheritance, Cerebellar hypoplasia, Congenital onset, Cortical gyral simplification, Generalized myoclonic seizures, Global developmental delay, Hydranencephaly, Hyperreflexia, Hypoplasia of the brainstem, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Lissencephaly, Macrotia, Microcephaly, Multiple joint contractures, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Proptosis, Seizures, Self-mutilation, Short stature, Skeletal muscle atrophy, Sloping forehead, Spastic tetraplegia, Talipes equinovarus, Ventriculomegaly
IPC-div1	NCAPD2	1.887888734	6.99E-15	DNA binding protein	BrainSpLMD|9918;Eurexp|euxassay_005651|embryo	OMIM|615638
IPC-div1	PIF1	2.881002882	8.55E-15	DNA helicase	BrainSpLMD|80119;Eurexp|euxassay_007343|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|610953
IPC-div1	HMGB1P5	1.012524031	1.09E-14			
IPC-div1	SPC25	1.926669781	1.25E-14	Cell cycle control protein	BrainSpLMD|57405;Eurexp|euxassay_000451|mantle layer, medulla oblongata, ventral grey horn, ventricular layer	OMIM|609395
IPC-div1	PSRC1	2.185434728	1.31E-14	Unclassified	BrainSpLMD|84722;Eurexp|euxassay_003651|left lung, marginal layer, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|613126
IPC-div1	INCENP	2.865411205	1.42E-14	Cell cycle control protein	BrainSpLMD|3619;Eurexp|euxassay_004695|ventricular layer	OMIM|604411
IPC-div1	CKS1B	1.925771298	1.47E-14	Cell cycle control protein		OMIM|116900
IPC-div1	HMGN2P6	0.748183622	1.61E-14			
IPC-div1	CCNF	2.540642695	1.77E-14	Cell cycle control protein	BrainSpLMD|899;Eurexp|euxassay_002325|lobe, ventricular layer	OMIM|600227;HPO|899|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
IPC-div1	KIF18B	1.714032696	1.82E-14	Unclassified		OMIM|614570
IPC-div1	HMGN2P3	1.263930882	1.84E-14			
IPC-div1	ADCY3	1.399307623	2.10E-14	Adenylate cyclase	BrainSpLMD|109;Eurexp|euxassay_018616|facial VII, olfactory, trigeminal V, ventral grey horn	SFARI||Autism, 3 - Suggestive evidence;OMIM|600291
IPC-div1	SAPCD2	1.912124441	2.28E-14	Unclassified	BrainSpLMD|89958	OMIM|612057
IPC-div1	NCAPG2	1.882189419	3.43E-14	Unclassified	BrainSpLMD|54892;Eurexp|euxassay_002384|axial muscle, epithelium, lobe, olfactory, ventricular layer	OMIM|608532
IPC-div1	BUB3	1.4272738	4.64E-14	Cell cycle control protein	BrainSpLMD|9184;Eurexp|euxassay_004484|hindbrain, lateral wall, mantle layer, saccule, utricle	OMIM|603719;HPO|9184|Abnormality of vision, Ascites, Cataract, Corneal opacity, Dandy-Walker malformation, Epicanthus, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Polyhydramnios, Short stature, Triangular face
IPC-div1	RP11.673C5.1	0.885990294	6.44E-14			
IPC-div1	TACC3	1.516928071	7.13E-14	Cell cycle control protein	BrainSpLMD|10460;Eurexp|euxassay_003324|marginal layer, nucleus pulposus, optic chiasma, optic stalk, submandibular gland primordium, ventral grey horn, ventricular layer	OMIM|605303
IPC-div1	HNRNPA2B1	0.818338373	1.64E-13	Ribonucleoprotein;RNA binding protein	BrainSpLMD|3181	OMIM|600124;COSMIC||prostate;HPO|3181|Abnormality of the skeletal system, Behavioral abnormality, Centrally nucleated skeletal muscle fibers, Elevated serum creatine phosphokinase, Frontotemporal dementia, Muscle fiber atrophy, Muscular dystrophy, Myopathy, Myositis, Skeletal muscle atrophy
IPC-div1	RRM2	1.530090873	2.39E-13	Cell cycle control protein	BrainSpLMD|6241;Eurexp|euxassay_004733|footplate, handplate, hindbrain, leg, liver, lung, mantle layer, mesenchyme, metanephros, olfactory, retina, spinal cord, tail, ventricular layer, vibrissa	OMIM|180390
IPC-div1	FAM83D	2.357148306	2.63E-13	Unclassified	BrainSpLMD|81610;Eurexp|euxassay_006378|olfactory, ventricular layer	
IPC-div1	QSER1	0.991738628	3.00E-13	Unclassified	BrainSpLMD|79832	
IPC-div1	FOXM1	2.457784424	3.77E-13	Transcription factor	BrainSpLMD|2305;BrainSpMouseDev|14012	OMIM|602341
IPC-div1	CCNA2	2.207806614	4.77E-13	Cell cycle control protein	BrainSpLMD|890	OMIM|123835
IPC-div1	PARPBP	2.603005058	4.77E-13	Unclassified	BrainSpLMD|55010	OMIM|613687
IPC-div1	LBR	1.112099987	9.40E-13	Integral membrane protein	BrainSpLMD|3930	OMIM|600024;HPO|3930|11 pairs of ribs, Abnormal foot bone ossification, Abnormal joint morphology, Abnormal lung lobation, Abnormal ossification involving the femoral head and neck, Abnormal pelvis bone ossification, Abnormal vertebral ossification, Abnormality of cholesterol metabolism, Abnormality of chromosome segregation, Abnormality of leukocytes, Abnormality of the calcaneus, Abnormality of the gastric mucosa, Abnormality of the scapula, Abnormality of the vertebral spinous processes, Absent or minimally ossified vertebral bodies, Absent toenail, Anterior rib punctate calcifications, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Barrel-shaped chest, Biliary cirrhosis, Bone marrow hypocellularity, Bowing of the long bones, Brachydactyly, Broad palm, Calcinosis, Calcinosis cutis, Calvarial skull defect, Cardiomegaly, Cystic hygroma, Decreased skull ossification, Depressed nasal bridge, Diaphyseal thickening, Disproportionate short-limb short stature, Dysphagia, Elevated alkaline phosphatase, Elevated hepatic transaminases, Epiphyseal stippling, Extramedullary hematopoiesis, Fatigue, Fever, Flared metaphysis, Gastroesophageal reflux, Gastrointestinal hemorrhage, Global developmental delay, Hepatic calcification, Hepatomegaly, Hepatosplenomegaly, High forehead, Horizontal sacrum, Hyperbilirubinemia, Hypertelorism, Hypoplasia of the maxilla, Hypoplastic fingernail, Hypoplastic vertebral bodies, Hyposegmentation of neutrophil nuclei, Intestinal malrotation, Irregular hyperpigmentation, Jaundice, Keratoconjunctivitis sicca, Laryngeal calcification, Lethal skeletal dysplasia, Lip telangiectasia, Long clavicles, Low-set ears, Lymphedema, Macrocephaly, Malar flattening, Mesomelia, Metaphyseal cupping, Micrognathia, Micromelia, Midface retrusion, Misalignment of teeth, Mucosal telangiectasiae, Multiple prenatal fractures, Myalgia, Narrow chest, Neonatal death, Nonimmune hydrops fetalis, Omphalocele, Palmar telangiectasia, Pancreatic islet-cell hyperplasia, Patchy variation in bone mineral density, Platyspondyly, Pleural effusion, Polydactyly, Polyhydramnios, Postaxial foot polydactyly, Postaxial hand polydactyly, Preeclampsia, Prominent forehead, Pruritus, Pulmonary hypoplasia, Punctate vertebral calcifications, Raynaud phenomenon, Rhizomelia, Sandal gap, Sclerodactyly, Scleroderma, Sclerosis of skull base, Severe hydrops fetalis, Severe short-limb dwarfism, Short diaphyses, Short phalanx of finger, Short ribs, Skin rash, Skin ulcer, Splenomegaly, Steatorrhea, Sternal punctate calcifications, Stillbirth, Supernumerary vertebral ossification centers, Telangiectasia of the skin, Tracheal calcification, Ulnar deviation of the hand, Xerostomia
IPC-div1	NUCKS1	0.910017323	1.10E-12	DNA binding protein	BrainSpLMD|64710	OMIM|611912
IPC-div1	FBXO5	1.395885846	1.28E-12	Cell cycle control protein	BrainSpLMD|26271;Eurexp|euxassay_012335|marginal layer, ventricular layer	OMIM|606013
IPC-div1	STMN1	0.326829411	1.37E-12	Structural protein	BrainSpLMD|3925;Eurexp|euxassay_008627|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|151442
IPC-div1	RANGAP1	1.910460502	1.57E-12	GTPase activating protein	BrainSpLMD|5905;Eurexp|euxassay_018242|brain	OMIM|602362
IPC-div1	SMC3	0.563045459	1.83E-12	Unclassified	BrainSpLMD|9126;Eurexp|euxassay_000017|cortex, dorsal root ganglion, heart, larynx, lung, rest of mesenchyme, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|606062;HPO|9126|Abnormality of the cardiac septa, Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Brachydactyly, Bulbous nose, Clinodactyly of the 5th finger, Cognitive impairment, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downturned corners of mouth, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hirsutism, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Limited elbow movement, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phenotypic variability, Phthisis bulbi, Poor speech, Premature birth, Prominent nasal bridge, Proximal placement of thumb, Ptosis, Pulmonic stenosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Synophrys, Thick eyebrow, Thick hair, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Vesicoureteral reflux, Widely spaced teeth
IPC-div1	TUBB4B	1.469832014	2.54E-12	Structural protein	BrainSpLMD|10383	OMIM|602660
IPC-div1	ILF2	0.763522405	4.02E-12	Transcription factor	BrainSpLMD|3608;Eurexp|euxassay_003141|cervical, cervico-thoracic, chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, submandibular gland primordium, thoracic, trigeminal V, vestibulocochlear VIII, vibrissa	SFARI||Autism, 2 - Strong candidate;OMIM|603181
IPC-div1	KIFC1	1.610949154	4.20E-12	Motor protein	Eurexp|euxassay_010691|marginal layer, ventricular layer	OMIM|603763
IPC-div1	ATAD2	1.393680835	4.41E-12	ATPase	BrainSpLMD|29028;Eurexp|euxassay_012771|ventricular layer	OMIM|611941
IPC-div1	PTTG3P	0.382183256	5.14E-12		BrainSpLMD|26255	
IPC-div1	NCAPH	1.581365877	5.29E-12	Cell cycle control protein	BrainSpLMD|23397;Eurexp|euxassay_002558|ventricular layer	OMIM|602332
IPC-div1	NEIL3	2.882793192	5.59E-12	Enzyme: Glycosylase	BrainSpLMD|55247	OMIM|608934
IPC-div1	EEF1A1P19	1.540521138	5.89E-12			
IPC-div1	NFIB	0.316239881	6.52E-12	Transcription factor	BrainSpLMD|4781;BrainSpMouseDev|17795	OMIM|600728;COSMIC||adenoid cystic carcinoma, lipoma
IPC-div1	SETD8	1.403699809	1.13E-11			
IPC-div1	ZWINT	1.607499592	1.35E-11	Cell cycle control protein	BrainSpLMD|11130;Eurexp|euxassay_009942|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, valve, vestibulocochlear VIII	OMIM|609177
IPC-div1	PLK4	1.968975691	2.07E-11	Serine/threonine kinase	BrainSpLMD|10733;Eurexp|euxassay_003979|Meckel's cartilage, clavicle, cranium, rib, turbinate	OMIM|605031;HPO|10733|Abnormality of dental enamel, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the eyelashes, Absent earlobe, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Autosomal recessive inheritance, Biparietal narrowing, Cachexia, Cataract, Cerebellar atrophy, Cerebral atrophy, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital onset, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Hip dysplasia, Hypertonia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Mild global developmental delay, Narrow face, Nystagmus, Optic atrophy, Pointed chin, Prematurely aged appearance, Protruding ear, Reduced number of teeth, Sandal gap, Scoliosis, Seizures, Short stature, Sloping forehead, Sparse scalp hair, Strabismus, Visual impairment, Wide nasal bridge
IPC-div1	LDHA	0.88027144	2.72E-11	Enzyme: Dehydrogenase	BrainSpLMD|3939	OMIM|150000;HPO|3939|Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise intolerance, Increased serum lactate, Increased serum pyruvate, Juvenile onset, Muscle cramps, Muscle stiffness, Myalgia, Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Rigidity
IPC-div1	CENPL	2.057377213	2.88E-11	Unclassified	BrainSpLMD|91687	OMIM|611503
IPC-div1	HES6	1.080167155	2.91E-11	Transcription regulatory protein	BrainSpLMD|55502;Eurexp|euxassay_018314|head mesenchyme, marginal layer, mesenchyme, molar, neural retina, olfactory, respiratory, retina, skeletal muscle, thymus primordium, trachea, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|35214	OMIM|610331
IPC-div1	ASCL1	1.177866362	3.09E-11	Transcription factor	BrainSpLMD|429;BrainSpMouseDev|16941	OMIM|100790;HPO|429|Abnormality of temperature regulation, Abnormality of the cardiovascular system, Abnormality of the mouth, Aganglionic megacolon, Autonomic dysregulation, Autosomal dominant inheritance, Breathing dysregulation, Central hypoventilation, Central sleep apnea, Constipation, Death in infancy, Downslanted palpebral fissures, Dysautonomia, Failure to thrive, Feeding difficulties, Ganglioneuroblastoma, Ganglioneuroma, Gastroesophageal reflux, Hyperhidrosis, Intellectual disability, Low-set ears, Muscular hypotonia, Posteriorly rotated ears, Seizures, Small for gestational age, Strabismus
IPC-div1	CCDC18	1.501165859	3.28E-11	T cell antigen receptor	BrainSpLMD|343099	
IPC-div1	SLC4A8	1.061223427	3.61E-11	Membrane transport protein	BrainSpLMD|9498;Eurexp|euxassay_002110|adrenal gland, brain, calyces, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, pelvis, spinal cord, stroma, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|605024
IPC-div1	LSM5	1.197356392	3.99E-11	RNA binding protein	BrainSpLMD|23658;Eurexp|euxassay_001693|cortex, oesophagus, thymus primordium, ventricular layer	OMIM|607285
IPC-div1	CENPU	1.653883788	4.02E-11	Unclassified	BrainSpLMD|79682	OMIM|611511
IPC-div1	TULP4	0.716907106	4.38E-11	Unclassified	BrainSpLMD|56995;Eurexp|euxassay_019639|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, marginal layer, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ;BrainSpMouseDev|44684	
IPC-div1	NUP50	0.623408194	4.41E-11	Transport/cargo protein	BrainSpLMD|10762	OMIM|604646
IPC-div1	DEPDC1B	1.797830024	6.47E-11	Unclassified	BrainSpLMD|55789	OMIM|616073
IPC-div1	DMRTA2	1.834019376	6.83E-11	Transcription factor		OMIM|614804
IPC-div1	H2AFX	1.419043686	6.89E-11	DNA binding protein	BrainSpLMD|3014;Eurexp|euxassay_002718|ventricular layer	OMIM|601772
IPC-div1	DIAPH3	1.506442093	7.05E-11	Unclassified	BrainSpLMD|81624;Eurexp|euxassay_012699|incisor, molar, pituitary, submandibular gland primordium, ventricular layer, vibrissa	SFARI||Autism, 5 - Hypothesized but untested;OMIM|614567;HPO|81624|Abnormal auditory evoked potentials, Abnormal speech discrimination, Absence of acoustic reflex, Autosomal dominant inheritance, Sensorineural hearing impairment
IPC-div1	APOLD1	2.082139922	9.49E-11	Unclassified	BrainSpLMD|81575;Eurexp|euxassay_014175|ventricle	OMIM|612456
IPC-div1	UBB	0.316523016	9.75E-11	Ubiquitin proteasome system protein	BrainSpLMD|7314	OMIM|191339;HPO|7314|Anterior open-bite malocclusion, Autosomal dominant inheritance, Cleft palate, Gingival overgrowth, Intellectual disability, profound, Micrognathia, Overbite, Seizures
IPC-div1	HP1BP3	0.684883547	1.16E-10	DNA binding protein	BrainSpLMD|50809	OMIM|616072
IPC-div1	HMGN2P41	0.476277349	1.16E-10			
IPC-div1	ARID2	0.632760936	1.38E-10	DNA binding protein		OMIM|609539;COSMIC||hepatocellular carcinoma;HPO|196528|Abnormality of cardiovascular system morphology, Abnormality of the dentition, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Feeding difficulties in infancy, Generalized hirsutism, Global developmental delay, Hearing impairment, Hypoplastic fifth fingernail, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Microcephaly, Muscular hypotonia, Nystagmus, Recurrent respiratory infections, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Slow-growing hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Wide mouth, Wide nasal bridge
IPC-div1	CENPA	1.817017481	1.51E-10	DNA binding protein	BrainSpLMD|1058	OMIM|117139
IPC-div1	FAM72D	2.920717512	1.58E-10		BrainSpLMD|728833	OMIM|614712
IPC-div1	ARHGEF39	2.405690805	1.78E-10	Guanine nucleotide exchange factor;Unclassified		
IPC-div1	RP11.336N8.4	0.632290016	1.93E-10			
IPC-div1	HIST1H3B	0.734495507	2.27E-10	DNA binding protein	BrainSpLMD|8358	OMIM|602819;COSMIC||glioma
IPC-div1	CENPC	1.2233447	2.62E-10	DNA binding protein	BrainSpLMD|1060	OMIM|117141
IPC-div1	ESCO2	1.813959281	2.86E-10	Unclassified		OMIM|609353;HPO|157570|Abnormality of cardiovascular system morphology, Abnormality of the metacarpal bones, Absent earlobe, Absent radius, Accessory spleen, Ankle contracture, Aortic valve stenosis, Aplasia of the ulna, Aplasia/Hypoplasia of the thumb, Atrial septal defect, Autosomal recessive inheritance, Bicornuate uterus, Biliary tract abnormality, Blue sclerae, Bowing of the long bones, Brachycephaly, Brachydactyly, Cafe-au-lait spot, Cataract, Cleft eyelid, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Clitoral hypertrophy, Complete duplication of thumb phalanx, Cranial nerve paralysis, Craniosynostosis, Cryptorchidism, Cystic hygroma, Downslanted palpebral fissures, Elbow flexion contracture, Enlarged labia minora, External ear malformation, Fair hair, Frontal encephalocele, Global developmental delay, Hand oligodactyly, High palate, Hip contracture, Horseshoe kidney, Hydrocephalus, Hypertelorism, Hypoplasia of the radius, Hypospadias, Intellectual disability, Intrauterine growth retardation, Knee flexion contracture, Long penis, Low-set ears, Malar flattening, Mesomelic arm shortening, Microcephaly, Micrognathia, Microphthalmia, Midface capillary hemangioma, Narrow naris, Opacification of the corneal stroma, Patent ductus arteriosus, Phocomelia, Polycystic kidney dysplasia, Polyhydramnios, Posteriorly rotated ears, Postnatal growth retardation, Premature birth, Premature separation of centromeric heterochromatin, Proptosis, Proximal placement of thumb, Radial deviation of finger, Radioulnar synostosis, Seizures, Severe intrauterine growth retardation, Shallow orbits, Short neck, Short stature, Short thumb, Sparse hair, Syndactyly, Talipes equinovalgus, Tetraphocomelia, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide nasal bridge, Wormian bones, Wrist flexion contracture
IPC-div1	RP5.821D11.7	0.782770697	3.14E-10			
IPC-div1	SKA2	1.205582404	4.02E-10	Unclassified	BrainSpLMD|348235;Eurexp|euxassay_007512|left lung, metanephros, olfactory, retina, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|616674
IPC-div1	RAN	0.618408388	4.20E-10	GTPase	BrainSpLMD|5901	OMIM|601179
IPC-div1	H2AFV	0.924428675	4.80E-10	DNA binding protein	BrainSpLMD|94239;Eurexp|euxassay_010704|metanephros, ventricular layer	
IPC-div1	TMSB4X	0.328638504	5.34E-10	Cytoskeletal associated protein		OMIM|300159
IPC-div1	HYLS1	1.56747565	9.88E-10	Unclassified	BrainSpLMD|219844	OMIM|610693;HPO|219844|Abnormal cortical gyration, Abnormality of cardiovascular system morphology, Abnormality of the sense of smell, Abnormality of the vagina, Absent septum pellucidum, Accessory spleen, Adrenal gland dysgenesis, Agenesis of corpus callosum, Agenesis of the diaphragm, Apnea, Arrhinencephaly, Ataxia, Autosomal recessive inheritance, Bifid nose, Bifid uvula, Biparietal narrowing, Broad neck, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Deeply set eye, Episodic tachypnea, Feeding difficulties in infancy, Gait disturbance, Gingival cleft, Global developmental delay, Heterotopia, Hydrocephalus, Intellectual disability, Intrauterine growth retardation, Laryngomalacia, Long face, Low-set, posteriorly rotated ears, Median cleft lip, Micrognathia, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Omphalocele, Polyhydramnios, Postaxial hand polydactyly, Preaxial hand polydactyly, Premature birth, Proximal tibial hypoplasia, Retrognathia, Submucous cleft hard palate, Tracheal atresia, Unilateral cleft lip, Ventricular septal defect
IPC-div1	USP22	0.468043829	1.02E-09	Unclassified	Eurexp|euxassay_000296|alar plate, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral wall, lens, medulla oblongata, meninges, metencephalon, neural retina, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612116
IPC-div1	GMNN	1.236622344	1.19E-09	Cell cycle control protein	BrainSpLMD|51053;Eurexp|euxassay_013652|cortex, incisor, lobe, lung, molar, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|602842;HPO|51053|Abnormality of epiphysis morphology, Abnormality of the ribs, Anotia, Aplastic clavicles, Atresia of the external auditory canal, Autosomal dominant inheritance, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Conductive hearing impairment, Craniosynostosis, Cryptorchidism, Delayed puberty, Delayed skeletal maturation, Depressed nasal ridge, Failure to thrive, Feeding difficulties, Growth hormone deficiency, High, narrow palate, Hip dysplasia, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Microtia, third degree, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Recurrent respiratory infections, Respiratory distress, Respiratory failure, Retrognathia, Severe short stature, Short middle phalanx of finger, Slender long bone, Stenosis of the external auditory canal, Umbilical hernia
IPC-div1	CBX5	0.45781468	1.31E-09	DNA binding protein	BrainSpLMD|23468	OMIM|604478
IPC-div1	TGIF1	1.564565718	1.40E-09	Transcription factor	BrainSpLMD|7050;Eurexp|euxassay_007804|cortex, fundus region, hindgut, lung, midgut, oesophagus, rectum, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|21574	OMIM|602630;HPO|7050|Absent nasal septal cartilage, Autosomal dominant inheritance, Depressed nasal bridge, Depressed nasal tip, Hypotelorism, Median cleft lip, Median cleft lip and palate, Ptosis, Semilobar holoprosencephaly
IPC-div1	CENPW	1.94299705	1.44E-09	Unclassified	Eurexp|euxassay_006383|roof plate, telencephalic part of interventricular foramen, thalamus	OMIM|611264
IPC-div1	ELAVL4	0.622556082	1.51E-09	RNA binding protein	BrainSpLMD|1996	OMIM|168360
IPC-div1	C21orf58	1.368132827	1.64E-09	Unclassified	BrainSpLMD|54058	
IPC-div1	CORO1C	0.50813855	1.70E-09	Cytoskeletal associated protein	BrainSpLMD|23603	OMIM|605269
IPC-div1	FBXL5	0.434870751	1.72E-09	Ubiquitin proteasome system protein	BrainSpLMD|26234	OMIM|605655
IPC-div1	FOXN4	2.553871051	1.91E-09	Transcription factor	BrainSpLMD|121643;Eurexp|euxassay_019663|neural retina, ventricular layer;BrainSpMouseDev|78123	OMIM|609429
IPC-div1	CEP70	1.0642714	1.98E-09	Structural protein	BrainSpLMD|80321	OMIM|614310
IPC-div1	EZR	0.414930073	2.04E-09	Anchor protein	BrainSpLMD|7430;Eurexp|euxassay_018306|axial skeleton, calyces, choroid plexus, cochlea, dorsal root ganglion, epidermis, epithelium, fundus region, hindgut, incisor, larynx, lens, lobe, lung, marginal layer, midgut, molar, oesophagus, oral epithelium, pelvis, penis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, rib, saccule, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricle, ventricular layer, vibrissa	OMIM|123900;COSMIC||NSCLC
IPC-div1	WEE1	0.656992806	2.04E-09	Dual specificity kinase	BrainSpLMD|7465;Eurexp|euxassay_016462|hindgut, lung, midgut, stomach, submandibular gland primordium, ventricular layer	OMIM|193525
IPC-div1	SHCBP1	2.214916056	2.11E-09	Unclassified	BrainSpLMD|79801;Eurexp|euxassay_006012|submandibular gland primordium, ventricular layer	OMIM|611027
IPC-div1	RP11.95I19.3	0.941573645	2.36E-09			
IPC-div1	EZH2	0.976345596	2.46E-09	Transcription regulatory protein	BrainSpLMD|2146	OMIM|601573;COSMIC||DLBCL;HPO|2146|Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Absent septum pellucidum, Accelerated skeletal maturation, Autosomal dominant inheritance, Behavioral abnormality, Broad foot, Broad forehead, Broad thumb, Calcaneovalgus deformity, Camptodactyly, Camptodactyly of finger, Clinodactyly, Coxa valga, Cryptorchidism, Cutis laxa, Deep philtrum, Deep-set nails, Delayed speech and language development, Depressed nasal bridge, Diastasis recti, Dilation of lateral ventricles, Dimple chin, Downslanted palpebral fissures, Dysarthria, Dysharmonic bone age, Epicanthus, Feeding difficulties in infancy, Fine hair, Flared femoral metaphysis, Flared humeral metaphysis, Generalized hypotonia, Global developmental delay, Hoarse voice, Hydrocele testis, Hypertelorism, Hypertonia, Hypoplastic iliac wing, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Inverted nipples, Joint contracture of the hand, Joint stiffness, Kyphosis, Large hands, Limited elbow extension, Limited knee extension, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Mandibular prognathia, Metatarsus adductus, Micrognathia, Overlapping toe, Pes cavus, Prominent fingertip pads, Radial deviation of finger, Redundant skin, Retrognathia, Round face, Scoliosis, Seizures, Short fourth metatarsal, Short ribs, Slurred speech, Sparse hair, Spasticity, Strabismus, Talipes equinovarus, Tall stature, Thin nail, Umbilical hernia
IPC-div1	DTYMK	1.639793986	2.69E-09	Enzyme: Phosphotransferase	Eurexp|euxassay_003137|chondrocranium, incisor, molar, pancreas, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|188345
IPC-div1	CDCA3	1.975028289	2.84E-09	Unclassified	BrainSpLMD|83461;Eurexp|euxassay_004852|cortex, left, marginal layer, mesenchyme, olfactory, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventral grey horn, ventricular layer	OMIM|607749
IPC-div1	CCND2	0.413523045	3.33E-09	Cell cycle control protein	BrainSpLMD|894	OMIM|123833;COSMIC||NHL, CLL;HPO|894|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Congenital onset, Depressed nasal bridge, Global developmental delay, High forehead, Hydrocephalus, Hypertelorism, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Prominent forehead, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
IPC-div1	UHRF1	1.282621926	3.41E-09	DNA binding protein	BrainSpLMD|29128	OMIM|607990
IPC-div1	FDFT1	0.322499107	3.41E-09	Enzyme: Synthase	BrainSpLMD|2222;Eurexp|euxassay_005703|calyces, cerebral cortex, cervical, cervico-thoracic, cochlear component, dorsal root ganglion, epithelium, facial VII, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, inferior, inner ear, lens, loop, mantle layer, mesenteric artery, midgut, molar, nucleus pulposus, retina, skeleton, stomach, superior, tegmentum, thoracic, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|184420
IPC-div1	ARHGAP19	2.674740244	5.01E-09	GTPase activating protein	BrainSpLMD|84986	OMIM|611587
IPC-div1	GPSM2	1.59149883	5.13E-09	Cell cycle control protein		OMIM|609245;HPO|29899|Arachnoid cyst, Autosomal recessive inheritance, Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus callosum, Gray matter heterotopias, Hydrocephalus, Hypoplasia of the corpus callosum, Large foramen magnum, Partial agenesis of the corpus callosum, Polymicrogyria, Severe sensorineural hearing impairment, Ventriculomegaly
IPC-div1	WIPF3	0.677618574	5.24E-09	Cytoskeletal associated protein	BrainSpLMD|644150	OMIM|612432
IPC-div1	ZEB1	1.066619831	5.72E-09	Transcription factor	BrainSpLMD|6935;Eurexp|euxassay_015398|central nervous system, meninges, vertebral axis muscle system;BrainSpMouseDev|21178	OMIM|189909;COSMIC||CCRCC, melanoma;HPO|6935|Autosomal dominant inheritance, Corneal dystrophy, Corneal guttata
IPC-div1	NUP98	0.531019273	5.83E-09	Transport/cargo protein	BrainSpLMD|4928	OMIM|601021;COSMIC||AML
IPC-div1	SPDL1	1.191602109	1.20E-08	Unclassified	BrainSpLMD|54908;Eurexp|euxassay_003300|axial muscle, glomeruli, incisor, left, mantle layer, marginal layer, molar, pancreas, right, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|616401
IPC-div1	CTC.260E6.6	1.770569271	1.31E-08			
IPC-div1	NUDCD2	1.137561847	1.37E-08	Unclassified	BrainSpLMD|134492;Eurexp|euxassay_006946|embryo	
IPC-div1	CUX1	0.665311372	1.38E-08	Transcription regulatory protein	BrainSpLMD|1523;BrainSpMouseDev|12828	SFARI||Autism, 3 - Suggestive evidence;OMIM|116896;COSMIC||endometrial, melanoma, colorectal, AML, MDS, other tumour types
IPC-div1	CDCA5	2.212383675	1.38E-08	Unclassified	BrainSpLMD|113130	OMIM|609374
IPC-div1	CDC25B	2.014645819	1.40E-08	Dual specificity phosphatase	BrainSpLMD|994	OMIM|116949
IPC-div1	STIL	2.124729796	1.43E-08	Unclassified	BrainSpLMD|6491	OMIM|181590;COSMIC||T-ALL;HPO|6491|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Congenital onset, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
IPC-div1	ZNF850	1.404676077	1.52E-08			
IPC-div1	SSTR2	1.229576505	1.56E-08	G protein coupled receptor	BrainSpLMD|6752;BrainSpMouseDev|20368	OMIM|182452
IPC-div1	BRCA2	1.340660477	1.58E-08	Transcription regulatory protein	BrainSpLMD|675;Eurexp|euxassay_019615|ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|600185;COSMIC||breast, ovarian, pancreatic, breast, ovarian, pancreatic, leukaemia  (FANCB, FANCD1);HPO|675|Abdominal pain, Abnormality of chromosome stability, Abnormality of the fallopian tube, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone marrow hypocellularity, Breast carcinoma, Chromosomal breakage induced by crosslinking agents, Esophageal atresia, Global developmental delay, Heterogeneous, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Nephroblastoma, Ovarian neoplasm, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Somatic mutation, Thrombocytopenia, Tracheoesophageal fistula
IPC-div1	ADNP	0.269044349	1.60E-08	Transcription factor	BrainSpLMD|23394;BrainSpMouseDev|11325	SFARI||Autism, 1 - High confidence;OMIM|611386;HPO|23394|Autistic behavior, Autosomal dominant inheritance, Cleft eyelid, Downslanted palpebral fissures, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hyperactivity, Hypermetropia, Infantile onset, Intellectual disability, Joint laxity, Language impairment, Obesity, Obsessive-compulsive behavior, Prominent forehead, Ptosis, Recurrent infections, Short nose, Short stature, Small hand, Smooth philtrum, Stereotypy, Strabismus, Thin upper lip vermilion, Visual impairment, Wide nasal bridge
IPC-div1	LMNB2	1.864739236	1.92E-08	Structural protein	BrainSpLMD|84823	OMIM|150341;HPO|84823|Autoimmunity, Autosomal recessive inheritance, Decreased serum complement C3, Gait ataxia, Generalized amyotrophy, Global developmental delay, Hearing impairment, Intellectual disability, Lipoatrophy, Lymphocytosis, Microglossia, Myoclonus, Myopathy, Progeroid facial appearance, Progressive, Scoliosis, Seizures, Short thumb, Status epilepticus, Ventriculomegaly
IPC-div1	HIST1H3C	0.535955376	2.00E-08	DNA binding protein	BrainSpLMD|8352	OMIM|602812
IPC-div1	SEPHS1	1.891758094	2.11E-08	Enzyme: Synthase	BrainSpLMD|22929	OMIM|600902
IPC-div1	CEP97	1.058944121	2.21E-08	Unclassified	BrainSpLMD|79598	OMIM|615864
IPC-div1	CEP135	1.132034087	2.38E-08	Unclassified	BrainSpLMD|9662	SFARI||Autism, 3 - Suggestive evidence;OMIM|611423;HPO|9662|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Congenital onset, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, severe, Microcephaly, Pachygyria, Retrognathia, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
IPC-div1	KIAA0101	0.867775409	2.42E-08			
IPC-div1	GAPDH	0.313167738	2.46E-08	Enzyme: Dehydrogenase		OMIM|138400
IPC-div1	POLR2A	1.404604571	2.47E-08	RNA polymerase	BrainSpLMD|5430	OMIM|180660
IPC-div1	HNRNPR	0.646490913	2.48E-08	RNA binding protein	BrainSpLMD|10236	OMIM|607201
IPC-div1	RP11.480I12.5	2.903931956	2.49E-08			
IPC-div1	HMMR	2.714751116	2.89E-08	Cell surface receptor	BrainSpLMD|3161	OMIM|600936
IPC-div1	CBX3	0.553525547	2.98E-08	DNA binding protein	BrainSpLMD|11335	OMIM|604477
IPC-div1	RAB11A	0.368729172	3.13E-08	GTPase	BrainSpLMD|8766	OMIM|605570
IPC-div1	RRM1	0.612760523	3.49E-08	Cell cycle control protein	BrainSpLMD|6240;Eurexp|euxassay_018692|cortex, incisor, lobe, lung, mandible, marginal layer, mesenchyme, molar, neural retina, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|180410
IPC-div1	RBMX	0.722059772	3.75E-08	RNA binding protein		OMIM|300199;HPO|27316|Blepharophimosis, Bulbous nose, Coarse facial features, Intellectual disability, moderate, Macroorchidism, Macrotia, Obesity, Periorbital fullness, Prominent supraorbital ridges, Specific learning disability, Thick lower lip vermilion, X-linked recessive inheritance
IPC-div1	NEUROD1	1.704647749	3.97E-08	Transcription factor	BrainSpLMD|4760;Eurexp|euxassay_019467|dorsal grey horn, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, pancreas, pineal primordium, pituitary, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17779	OMIM|601724;HPO|4760|Autosomal dominant inheritance, Maturity-onset diabetes of the young
IPC-div1	HSP90B1	0.665129966	4.13E-08	Heat shock protein	BrainSpLMD|7184;Eurexp|euxassay_000099|body-wall mesenchyme, dermis, epidermis, nucleus pulposus	OMIM|191175
IPC-div1	H3F3A	0.321246642	4.19E-08	DNA binding protein		OMIM|601128;COSMIC||glioma
IPC-div1	CENPO	1.597049947	4.23E-08	Unclassified	BrainSpLMD|79172;Eurexp|euxassay_000072|Meckel's cartilage, basal plate, chondrocranium, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, molar, olfactory, submandibular gland primordium, testis, thymus primordium, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|611504
IPC-div1	ESPL1	2.217088268	4.48E-08	Cysteine protease	BrainSpLMD|9700	OMIM|604143
IPC-div1	STK17B	1.103117327	4.57E-08	Serine/threonine kinase	BrainSpLMD|9262	OMIM|604727
IPC-div1	CDK5RAP2	1.172716364	4.70E-08	Cell cycle control protein	BrainSpLMD|55755	OMIM|608201;HPO|55755|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, moderate, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Small cerebral cortex, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
IPC-div1	PIK3R3	1.154931532	5.48E-08	Adapter molecule	BrainSpLMD|8503	OMIM|606076
IPC-div1	SNCAIP	0.700555889	5.60E-08	Unclassified	BrainSpLMD|9627	OMIM|603779;HPO|9627|Bradykinesia, Constipation, Dementia, Depressivity, Dysarthria, Dysphagia, Dystonia, Insidious onset, Lewy bodies, Mask-like facies, Neuronal loss in central nervous system, Parkinsonism, Personality changes, Postural instability, Progressive, Resting tremor, Rigidity, Short stepped shuffling gait, Sleep disturbance, Sporadic, Substantia nigra gliosis, Urinary urgency, Weak voice
IPC-div1	TTF2	1.819791185	5.71E-08	Transcription regulatory protein	BrainSpLMD|8458;Eurexp|euxassay_012438|ventricular layer;BrainSpMouseDev|49885	OMIM|604718
IPC-div1	KNTC1	0.688403506	6.80E-08	Cell cycle control protein	BrainSpLMD|9735;Eurexp|euxassay_011295|ventricular layer	OMIM|607363
IPC-div1	NKAIN3	1.103016446	6.81E-08	Unclassified	BrainSpLMD|286183	OMIM|612872
IPC-div1	FAM110A	1.887508089	7.20E-08	Unclassified	BrainSpLMD|83541;Eurexp|euxassay_010641|mantle layer, marginal layer	OMIM|611393
IPC-div1	CCT5	0.99016421	7.72E-08	Chaperone	BrainSpLMD|22948	OMIM|610150;HPO|22948|Abnormality of the foot, Acral ulceration and osteomyelitis leading to autoamputation of digits, Atrophy of the spinal cord, Autosomal recessive inheritance, Babinski sign, Clonus, Decreased circulating low-density lipoprotein levels, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment, Distal sensory loss of all modalities, Hypocholesterolemia, Infantile onset, Juvenile onset, Peripheral axonal neuropathy, Spastic gait, Spastic paraplegia
IPC-div1	SKA1	2.261283076	7.91E-08	Unclassified	BrainSpLMD|220134	OMIM|616673
IPC-div1	EMC9	1.540775055	8.63E-08	Unclassified	BrainSpLMD|51016	
IPC-div1	TFAP2C	0.445444917	1.01E-07	Transcription factor	BrainSpLMD|7022;BrainSpMouseDev|21181	OMIM|601602
IPC-div1	CHEK2	2.551615383	1.06E-07	Serine/threonine kinase	BrainSpLMD|11200;Eurexp|euxassay_012795|liver, ventricular layer	OMIM|604373;COSMIC||breast;HPO|11200|Abnormal lactate dehydrogenase activity, Abnormality of metabolism/homeostasis, Abnormality of the fallopian tube, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphysis, Autosomal dominant inheritance, Breast carcinoma, Elevated alkaline phosphatase, Glioma, Joint swelling, Lymphoma, Meningioma, Neoplasm of the adrenal cortex, Neoplasm of the colon, Neoplasm of the nervous system, Neoplasm of the pancreas, Neoplasm of the skin, Osteolysis, Osteosarcoma, Ovarian neoplasm, Pain, Primary peritoneal carcinoma, Progressive encephalopathy, Retinoblastoma, Sarcoma, Stomach cancer
IPC-div1	7-Mar	0.847008204	1.13E-07			
IPC-div1	ZMYM1	1.765164461	1.20E-07	Unclassified	BrainSpLMD|79830	
IPC-div1	DEK	0.815361368	1.23E-07	DNA binding protein	BrainSpLMD|7913	OMIM|125264;COSMIC||AML
IPC-div1	HN1	0.70331075	1.24E-07			
IPC-div1	CSRP2	0.789996656	1.28E-07	Adapter molecule	BrainSpLMD|1466;Eurexp|euxassay_016538|aorta, bladder, dorsal grey horn, hindgut, intermediate grey horn, mantle layer, midgut, neural retina, orbito-sphenoid, pancreas, skeletal muscle, stomach, temporal bone, turbinate, vault of skull	OMIM|601871
IPC-div1	HMGB1P10	0.787654378	1.34E-07			
IPC-div1	C4orf46	1.426453001	1.34E-07	Unclassified		OMIM|616210
IPC-div1	IVNS1ABP	1.164459166	1.39E-07	Unclassified	BrainSpLMD|10625;Eurexp|euxassay_011634|axial muscle, axial skeleton, cervical, cervico-thoracic, clavicle, cochlea, corpus striatum, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lateral ventricle, lip, lung, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, molar, neural retina, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, pituitary, renal/urinary system, saccule, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trachea, trigeminal V, ventricle, ventricular layer, vibrissa	OMIM|609209
IPC-div1	SETD7	1.210941887	1.40E-07	Enzyme: Methyltransferase	BrainSpLMD|80854;BrainSpMouseDev|49092	OMIM|606594
IPC-div1	RNFT2	1.285189056	1.43E-07	Unclassified	BrainSpLMD|84900	
IPC-div1	USP1	0.937451142	1.48E-07	Ubiquitin proteasome system protein	BrainSpLMD|7398	OMIM|603478
IPC-div1	POU3F2	0.851716572	1.72E-07	Transcription factor	BrainSpLMD|5454;BrainSpMouseDev|18755	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600494
IPC-div1	SYNE2	0.552215286	1.73E-07	Cytoskeletal protein	BrainSpLMD|23224;Eurexp|euxassay_010927|cochlea, metanephros, pericardial cavity, peritoneal cavity, renal/urinary system, utricle, ventricular layer	OMIM|608442;HPO|23224|Arrhythmia, Autosomal dominant inheritance, Cardiomyopathy, Childhood onset, Elevated serum creatine phosphokinase, Muscular dystrophy, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Respiratory insufficiency
IPC-div1	CRNDE	1.353768053	1.78E-07			OMIM|615624
IPC-div1	DBF4P1	0.860978604	1.89E-07			
IPC-div1	GEN1	1.236939102	1.95E-07	DNA binding protein	BrainSpLMD|348654	OMIM|612449
IPC-div1	DBF4B	0.977628762	2.14E-07	Regulatory/other subunit	BrainSpLMD|80174	OMIM|611661
IPC-div1	CHD7	0.495185786	2.25E-07	DNA binding protein	Eurexp|euxassay_010758|marginal layer, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|608892;HPO|55636|Abnormality of body height, Abnormality of female internal genitalia, Abnormality of lymphocytes, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Alopecia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bifid scrotum, Breast hypoplasia, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Desquamation of skin soon after birth, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysphagia, Edema, Eosinophilia, Erectile abnormalities, Erythroderma, Esophageal atresia, Eunuchoid habitus, External ear malformation, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Female hypogonadism, Fever, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Hepatomegaly, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphopenia, Malar flattening, Male hypogonadism, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Non-obstructive azoospermia, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Pneumonia, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Secondary amenorrhea, Sensorineural hearing impairment, Severe combined immunodeficiency, Sparse body hair, Splenomegaly, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Thickened skin, Tracheoesophageal fistula, Umbilical hernia, Ventricular septal defect, Wide intermamillary distance
IPC-div1	MYBL1	2.145874479	2.51E-07	Transcription regulatory protein	Eurexp|euxassay_019606|adrenal gland, neural retina, olfactory, testis, ventricular layer, vomeronasal organ;BrainSpMouseDev|17631	OMIM|159405
IPC-div1	PPP2R5C	0.675828648	2.57E-07	Enzyme regulator	BrainSpLMD|5527	OMIM|601645
IPC-div1	CDC27	0.987534679	2.68E-07	Cell cycle control protein	BrainSpLMD|996	OMIM|116946
IPC-div1	PTMA	0.327477153	2.77E-07	Unclassified	BrainSpLMD|5757	OMIM|188390
IPC-div1	HDGF	1.420566246	3.48E-07	Growth factor	BrainSpLMD|3068;Eurexp|euxassay_002405|epithelium, incisor, lobe, molar, naris, olfactory, oral epithelium, orbito-sphenoid, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|600339
IPC-div1	DNA2	1.395617467	3.73E-07	DNA helicase		OMIM|601810;HPO|1763|Autosomal dominant inheritance, Autosomal recessive inheritance, Convex nasal ridge, Ectopic kidney, Elevated serum creatine phosphokinase, Exercise intolerance, Exertional dyspnea, Facial palsy, Gait disturbance, Generalized amyotrophy, Global developmental delay, Gowers sign, Intellectual disability, Kyphoscoliosis, Limb-girdle muscle weakness, Microcephaly, Micrognathia, Muscle cramps, Myalgia, Progressive external ophthalmoplegia, Ptosis, Short stature, Slender build, Slow progression, Spinal cord compression
IPC-div1	ZC3H13	0.32319405	3.95E-07	Transcription regulatory protein	BrainSpLMD|23091	OMIM|616453
IPC-div1	RFWD3	2.231968246	4.40E-07	Unclassified	BrainSpLMD|55159	OMIM|614151
IPC-div1	MDM2	0.38283841	4.44E-07	Ubiquitin proteasome system protein	BrainSpLMD|4193;Eurexp|euxassay_006190|embryo	OMIM|164785;COSMIC||sarcoma, glioma, colorectal, other tumour types;HPO|4193|Breast carcinoma, Lymphoma, Neoplasm of the adrenal cortex, Neoplasm of the colon, Neoplasm of the nervous system, Neoplasm of the pancreas, Neoplasm of the skin, Osteosarcoma, Progressive encephalopathy, Subcutaneous nodule
IPC-div1	ZNF826P	2.251281339	4.91E-07	Unclassified		
IPC-div1	SUMO2	0.356685896	5.25E-07	Unclassified	BrainSpLMD|6613	OMIM|603042
IPC-div1	BRD8	0.921633571	5.65E-07	Transcription regulatory protein	BrainSpLMD|10902;Eurexp|euxassay_019636|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	OMIM|602848
IPC-div1	PIP4K2A	0.429398018	5.95E-07	Lipid Kinase	BrainSpLMD|5305;Eurexp|euxassay_018594|basal plate, dorsal root ganglion, foregut-midgut junction, head mesenchyme, hindgut, incisor, lobe, loop, lumen, mantle layer, medullary stroma, mesenchyme, midgut, olfactory, rectum, stomach, testis, thymus primordium, ventral grey horn, vertebral axis muscle system, vomeronasal organ	OMIM|603140
IPC-div1	TRMU	1.121543125	6.09E-07	RNA methyltransferase	BrainSpLMD|55687	OMIM|610230;HPO|55687|Abdominal distention, Abnormality of the coagulation cascade, Acute hepatic failure, Aminoglycoside-induced hearing loss, Autosomal recessive inheritance, Elevated hepatic transaminases, Feeding difficulties in infancy, Generalized hypotonia, Hepatomegaly, Hyperbilirubinemia, Increased serum lactate, Jaundice, Lactic acidosis, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Mitochondrial inheritance, Mitochondrial respiratory chain defects, Vomiting
IPC-div1	CKB	0.385299045	6.36E-07	Enzyme: Phosphotransferase	BrainSpLMD|1152;Eurexp|euxassay_011493|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lung, mandible, mantle layer, maxilla, midgut, neural retina, oesophagus, olfactory, rectum, sternum, stomach, trigeminal V, ventral grey horn, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ, wall	OMIM|123280
IPC-div1	FAM122B	1.733463974	6.43E-07	Unclassified	BrainSpLMD|159090;Eurexp|euxassay_002251|axial skeleton, cranium, mesenchyme, pectoral girdle and thoracic body wall, trachea	
IPC-div1	UBE2G1	0.513911392	6.50E-07	Ubiquitin proteasome system protein	BrainSpLMD|7326;Eurexp|euxassay_018720|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, submandibular gland primordium, trigeminal V	OMIM|601569
IPC-div1	KIF5B	0.669055554	6.59E-07	Motor protein	BrainSpLMD|3799;Eurexp|euxassay_019750|olfactory	OMIM|602809;COSMIC||NSCLC, Spitzoid tumour
IPC-div1	HIST1H4C	1.6190833	7.02E-07	DNA binding protein	BrainSpLMD|8364	OMIM|602827
IPC-div1	SOGA1	0.538978938	7.52E-07	Unclassified	BrainSpLMD|140710	
IPC-div1	INSM1	0.780375677	7.69E-07	Transcription factor	BrainSpLMD|3642;Eurexp|euxassay_019598|adrenal gland, mantle layer, marginal layer, neural retina, olfactory, pancreas, ventricular layer, vomeronasal organ;BrainSpMouseDev|32944	OMIM|600010
IPC-div1	SMOC1	1.585351947	8.23E-07	Extracellular matrix protein;Calcium binding protein	BrainSpLMD|64093;Eurexp|euxassay_003378|aorta, axial muscle, axial skeleton, cochlea, dorsal grey horn, hyoid bone, mantle layer, marginal layer, medulla, medullary region, meninges, mesenchyme, metatarsus, naris, nasal septum, pancreas, phalanx, saccule, thyroid, turbinate bones, ventral grey horn, ventricle, ventricular layer	OMIM|608488;HPO|64093|Abnormal form of the vertebral bodies, Abnormality of the cardiovascular system, Abnormality of the eyebrow, Abnormality of the hair, Abnormality of the metacarpal bones, Anophthalmia, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Blepharophimosis, Camptodactyly of 2nd-5th fingers, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Deep philtrum, Depressed nasal bridge, Downslanted palpebral fissures, Failure to thrive, Fibular hypoplasia, Finger syndactyly, Flared nostrils, Foot oligodactyly, Frontal bossing, Fused fourth and fifth metacarpals, Hand oligodactyly, High palate, Hip dislocation, Hypoplasia of the maxilla, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Large earlobe, Low-set ears, Low-set, posteriorly rotated ears, Microphthalmia, Optic atrophy, Postaxial foot polydactyly, Postaxial hand polydactyly, Posteriorly rotated ears, Postnatal growth retardation, Prominent forehead, Retrognathia, Sandal gap, Short nose, Short palpebral fissure, Short stature, Short tibia, Single transverse palmar crease, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Tibial bowing, Toe syndactyly, True anophthalmia
IPC-div1	CDKN1B	0.779599734	8.42E-07	Cell cycle control protein	BrainSpLMD|1027;Eurexp|euxassay_011991|spleen primordium	SFARI||Autism, No category;OMIM|600778;COSMIC||breast, small intestine neuroendocrine tumours, pituitary, parathyroid;HPO|1027|Adrenocortical adenoma, Angiofibromas, Autosomal dominant inheritance, Carcinoid tumor, Diarrhea, Elevated circulating parathyroid hormone level, Episodic abdominal pain, Esophagitis, Fasting hyperinsulinemia, Growth hormone excess, Hypercalcemia, Hyperinsulinemic hypoglycemia, Hyperparathyroidism, Insulinoma, Parathyroid adenoma, Parathyroid hyperplasia, Peptic ulcer, Pituitary adenoma, Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary prolactin cell adenoma, Pulmonary carcinoid tumor, Renal angiomyolipoma, Subcutaneous lipoma, Thyroid adenoma, Zollinger-Ellison syndrome
IPC-div1	LIN9	1.26476756	8.57E-07	Transcription regulatory protein	BrainSpLMD|286826;Eurexp|euxassay_006443|ventricular layer	OMIM|609375
IPC-div1	GOLIM4	0.554742827	8.77E-07	Integral membrane protein	BrainSpLMD|27333	OMIM|606805
IPC-div1	TMSB4XP4	1.32354711	9.16E-07	-		
IPC-div1	BRCA1	1.519584597	9.44E-07	Transcription regulatory protein	BrainSpLMD|672;Eurexp|euxassay_019531|incisor, liver, lung, marginal layer, metanephros, molar, olfactory, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|11975	OMIM|113705;COSMIC||ovarian, breast, ovarian;HPO|672|Abdominal distention, Abdominal pain, Abnormality of the fallopian tube, Autosomal dominant inheritance, Breast carcinoma, Constipation, Heterogeneous, Nausea and vomiting, Neoplasm, Ovarian neoplasm, Peritonitis, Primary peritoneal carcinoma
IPC-div1	RAD51AP1	1.347265084	9.79E-07	DNA binding protein	BrainSpLMD|10635;Eurexp|euxassay_010685|ventricular layer	OMIM|603070
IPC-div1	CUL1	0.834641442	1.07E-06	Ubiquitin proteasome system protein	BrainSpLMD|8454;Eurexp|euxassay_007276|ventricular layer	OMIM|603134
IPC-div1	TUBB	0.660811502	1.14E-06	Cytoskeletal protein	BrainSpLMD|203068	OMIM|191130;HPO|203068|Abnormality of cardiovascular system morphology, Abnormality of the skin, Ataxia, Autosomal dominant inheritance, Blepharophimosis, Brachycephaly, Cerebellar hypoplasia, Cleft palate, Congenital onset, Delayed speech and language development, Edema, Epicanthus, Flat face, Global developmental delay, High palate, Hypertelorism, Hypoplasia of the brainstem, Hypoplastic nipples, Increased number of skin folds, Intellectual disability, Irregular hyperpigmentation, Localized neuroblastoma, Low-set ears, Microcephaly, Motor delay, Narrow mouth, Periorbital fullness, Posteriorly rotated ears, Short neck, Short palpebral fissure, Thickened skin, Wide intermamillary distance
IPC-div1	DAAM1	0.36258926	1.18E-06	Unclassified	BrainSpLMD|23002;BrainSpMouseDev|84026	OMIM|606626
IPC-div1	TRIM26	0.790197405	1.19E-06	DNA binding protein	BrainSpLMD|7726	OMIM|600830
IPC-div1	ZNF93	0.736215909	1.21E-06	Transcription regulatory protein	BrainSpLMD|81931	OMIM|603975
IPC-div1	BANF1	0.264035735	1.22E-06	DNA binding protein	BrainSpLMD|8815	OMIM|603811;HPO|8815|Abnormality of the forearm, Abnormality of the ribs, Atherosclerosis, Autosomal recessive inheritance, Convex nasal ridge, Delayed closure of the anterior fontanelle, Dental crowding, Failure to thrive, Flexion contracture, Joint stiffness, Lipoatrophy, Malar flattening, Micrognathia, Midface retrusion, Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Progressive clavicular acroosteolysis, Proptosis, Pulmonary arterial hypertension, Right bundle branch block, Scoliosis, Short stature, Sinus tachycardia, Sparse and thin eyebrow, Sparse eyelashes, Spotty hyperpigmentation, Wide cranial sutures
IPC-div1	TNPO2	1.091807619	1.29E-06	Transport/cargo protein	BrainSpLMD|30000	OMIM|603002
IPC-div1	GTF3C4	1.857911927	1.33E-06	Transcription factor	BrainSpLMD|9329	OMIM|604892
IPC-div1	ACLY	0.477192778	1.46E-06	ATPase	BrainSpLMD|47;Eurexp|euxassay_018561|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, medulla, molar, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|108728
IPC-div1	CENPI	2.140429878	1.46E-06	Unclassified	BrainSpLMD|2491	OMIM|300065
IPC-div1	COX17	0.788676797	1.47E-06	Chaperone		OMIM|604813
IPC-div1	SKIDA1	0.861717235	1.49E-06	Unclassified	BrainSpLMD|387640;Eurexp|euxassay_003843|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	
IPC-div1	ADD3	0.670094396	1.53E-06	Cytoskeletal associated protein	BrainSpLMD|120;Eurexp|euxassay_002919|chondrocranium, epithelium, glandular mucous membrane, lumen, mantle layer, pancreas, ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|601568;HPO|120|Abnormal pyramidal signs, Autosomal recessive inheritance, Cognitive impairment, Dysphagia, Exotropia, Global developmental delay, Infantile onset, Microcephaly, Nystagmus, Poor speech, Spastic diplegia, Spastic tetraplegia, Supranuclear gaze palsy, Variable expressivity
IPC-div1	SPAG9	0.349748875	1.59E-06	Integral membrane protein	BrainSpLMD|9043;Eurexp|euxassay_014482|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vestibulocochlear VIII	OMIM|605430
IPC-div1	CLVS2	0.37312597	1.61E-06	Transport/cargo protein		OMIM|616945
IPC-div1	MSI1	0.702022471	1.62E-06	RNA binding protein	BrainSpLMD|4440	OMIM|603328
IPC-div1	LDLRAD3	0.890275832	1.67E-06	Unclassified	BrainSpLMD|143458;Eurexp|euxassay_011393|dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, stomach, trigeminal V, vagus X, vestibulocochlear VIII	
IPC-div1	HSD17B11	1.434369211	1.84E-06	Enzyme: Dehydrogenase	BrainSpLMD|51170;Eurexp|euxassay_012521|epithelium, olfactory	OMIM|612831
IPC-div1	DDAH2	0.862145794	2.02E-06	Enzyme: Hydrolase	BrainSpLMD|23564	OMIM|604744
IPC-div1	PSMC3	1.018965122	2.05E-06	Ubiquitin proteasome system protein	BrainSpLMD|5702	OMIM|186852
IPC-div1	CALM2	0.723511056	2.08E-06	Calcium binding protein	BrainSpLMD|805	OMIM|114182;HPO|805|Autosomal dominant inheritance, Prolonged QT interval, Ventricular tachycardia, Vertigo
IPC-div1	HIST1H1B	1.358354617	2.26E-06	DNA binding protein	BrainSpLMD|3009;Eurexp|euxassay_012857|marginal layer, ventricular layer	OMIM|142711
IPC-div1	MMS22L	0.884087053	2.38E-06	Unclassified	BrainSpLMD|253714	OMIM|615614
IPC-div1	ZNF43	0.510488099	2.42E-06	DNA binding protein	BrainSpLMD|7594	OMIM|603972
IPC-div1	LARP7	0.461888793	2.43E-06	Unclassified	BrainSpLMD|51574;Eurexp|euxassay_006535|embryo	OMIM|612026;HPO|51574|Autosomal recessive inheritance, Decreased body weight, Deeply set eye, Depressed nasal bridge, Global developmental delay, Intellectual disability, severe, Low-set ears, Malar flattening, Microcephaly, Scoliosis, Severe short stature, Short philtrum, Thick vermilion border, Wide mouth, Wide nasal bridge, Wide nose
IPC-div1	MRPL51	0.780578903	2.49E-06	Ribosomal subunit	BrainSpLMD|51258	OMIM|611855
IPC-div1	RANP1	0.276202878	2.63E-06			
IPC-div1	MID1	1.006689601	2.63E-06	Transcription regulatory protein;Ubiquitin proteasome system protein	BrainSpLMD|4281;Eurexp|euxassay_013835|excretory component, marginal layer, neural retina, ventricular layer;BrainSpMouseDev|17087	OMIM|300552;HPO|4281|Abnormal heart morphology, Abnormality of the nasopharynx, Agenesis of corpus callosum, Anal atresia, Anteverted nares, Aspiration, Cleft palate, Cleft upper lip, Cryptorchidism, Dysphagia, Esophageal atresia, Frontal bossing, Gastroesophageal reflux, Global developmental delay, Heterogeneous, High palate, Hypertelorism, Hypospadias, Posterior pharyngeal cleft, Prominent forehead, Smooth philtrum, Telecanthus, Thin upper lip vermilion, Tracheoesophageal fistula, Wide nasal bridge, Widow's peak, X-linked recessive inheritance
IPC-div1	MPHOSPH9	1.443929785	2.69E-06	Cell cycle control protein	BrainSpLMD|10198	OMIM|605501
IPC-div1	DKC1	0.545788357	2.74E-06	RNA binding protein	BrainSpLMD|1736	OMIM|300126;HPO|1736|Abnormal blistering of the skin, Abnormality of coagulation, Abnormality of female internal genitalia, Abnormality of neutrophils, Abnormality of the fingernails, Abnormality of the pharynx, Acute myeloid leukemia, Alopecia, Anal mucosal leukoplakia, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Blepharitis, Bone marrow hypocellularity, Carious teeth, Cataract, Cellular immunodeficiency, Cerebellar hypoplasia, Cerebral cortical atrophy, Cirrhosis, Conjunctivitis, Cryptorchidism, Decreased testicular size, Dermal atrophy, Esophageal stenosis, Esophageal stricture, Excessive wrinkled skin, Failure to thrive, Generalized hyperpigmentation, Generalized hypopigmentation of hair, Global developmental delay, Hodgkin lymphoma, Horseshoe kidney, Hyperhidrosis, Hypermelanotic macule, Hyperpigmentation of the skin, Hypertonia, Hypodontia, Hypopigmented skin patches, Hypospadias, Immunodeficiency, Increased lacrimation, Intellectual disability, Intrauterine growth retardation, Leukopenia, Malabsorption, Microcephaly, Myelodysplasia, Nail dystrophy, Optic atrophy, Oral leukoplakia, Osteoporosis, Pancytopenia, Periodontitis, Phimosis, Premature graying of hair, Premature loss of teeth, Pterygium of nails, Pulmonary fibrosis, Recurrent fractures, Recurrent respiratory infections, Restrictive ventilatory defect, Reticulated skin pigmentation, Ridged nail, Rough bone trabeculation, Short stature, Skin ulcer, Sparse eyelashes, Sparse hair, Sparse scalp hair, Split nail, Squamous cell carcinoma, Strabismus, Taurodontia, Telangiectasia of the skin, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis, Ventriculomegaly, X-linked recessive inheritance
IPC-div1	RP11.303E16.2	1.621363495	2.76E-06			
IPC-div1	TANK	1.092759702	2.79E-06	Adapter molecule	BrainSpLMD|10010;Eurexp|euxassay_010622|mandible, maxilla, submandibular gland primordium	OMIM|603893
IPC-div1	DNAJC9	1.1765948	2.90E-06	Chaperone	BrainSpLMD|23234;Eurexp|euxassay_001729|ventricular layer	OMIM|611206
IPC-div1	LGALS1	0.532198458	2.93E-06	Ligand	BrainSpLMD|3956;Eurexp|euxassay_004032|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|16623	OMIM|150570
IPC-div1	CDK19	0.570628603	3.06E-06	Serine/threonine kinase	BrainSpLMD|23097	OMIM|614720
IPC-div1	ORC6	0.924152172	3.21E-06	DNA binding protein	BrainSpLMD|23594;Eurexp|euxassay_007673|cortex, incisor, left, mandible, molar, right, submandibular gland primordium, ventricular layer	OMIM|607213;HPO|23594|Abnormality of epiphysis morphology, Abnormality of the ribs, Absent sternal ossification, Anotia, Aplasia/Hypoplasia of the patella, Aplastic clavicles, Atresia of the external auditory canal, Autosomal recessive inheritance, Birth length less than 3rd percentile, Breast hypoplasia, Bronchomalacia, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Coxa vara, Craniosynostosis, Cryptorchidism, Delayed skeletal maturation, Downslanted palpebral fissures, Dyspnea, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Genu varum, High, narrow palate, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypospadias, Intrauterine growth retardation, Joint hyperflexibility, Laryngomalacia, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Micropenis, Microretrognathia, Microtia, Microtia, third degree, Narrow chest, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Prominent nasal bridge, Recurrent pneumonia, Respiratory distress, Respiratory failure, Retrognathia, Scrotal hypoplasia, Severe short stature, Short ribs, Short thorax, Slender long bone, Talipes equinovarus, Thick lower lip vermilion, Tracheomalacia, Triangular face
IPC-div1	TBC1D31	1.452912521	3.55E-06	Unclassified	BrainSpLMD|93594	SFARI||Autism, No category
IPC-div1	CENPJ	0.780313045	3.58E-06	Cytoskeletal protein	BrainSpLMD|55835;Eurexp|euxassay_014821|cortex, incisor, lung, marginal layer, molar, neural retina, olfactory, pituitary, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ	OMIM|609279;HPO|55835|11 pairs of ribs, Abnormal cortical bone morphology, Abnormality of dental enamel, Absent earlobe, Agenesis of corpus callosum, Autosomal recessive inheritance, Cachexia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital onset, Convex nasal ridge, Craniosynostosis, Decreased body weight, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Heterogeneous, Heterotopia, High forehead, Hip dysplasia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Pachygyria, Prematurely aged appearance, Reduced number of teeth, Retrognathia, Sandal gap, Short stature, Sloping forehead, Small cerebral cortex, Sparse scalp hair, Steep acetabular roof, Thin upper lip vermilion, Underdeveloped nasal alae, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
IPC-div1	CCAR1	0.686002427	3.60E-06	Cell cycle control protein	BrainSpLMD|55749	OMIM|612569
IPC-div1	ATL2	1.052505255	3.67E-06	Unclassified	BrainSpLMD|64225;Eurexp|euxassay_003464|cervical, cervico-thoracic, cortex, facial VII, glossopharyngeal IX, incisor, lobe, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, rectum, respiratory, submandibular gland primordium, testis, thoracic, thymus primordium, thyroid, trigeminal V, urethra, vagus X, ventricular layer, vibrissa	OMIM|609368
IPC-div1	SRSF10	0.562499976	3.81E-06	RNA binding protein	Eurexp|euxassay_000064|adenohypophysis, cardiac muscle, endocardial lining, limb, vertebral axis muscle system	OMIM|605221
IPC-div1	FUBP1	0.461550774	4.05E-06	Transcription regulatory protein	BrainSpLMD|8880	OMIM|603444;COSMIC||oligodendroglioma
IPC-div1	DCP2	0.463293197	4.23E-06	RNA binding protein	BrainSpLMD|167227	OMIM|609844
IPC-div1	SAP30	0.703112845	4.23E-06	Regulatory/other subunit	BrainSpLMD|8819	OMIM|603378
IPC-div1	DLEU2	0.787573773	4.25E-06	Unclassified	BrainSpLMD|8847	OMIM|605766
IPC-div1	HNRNPH3	0.67110258	4.39E-06	Ribonucleoprotein	BrainSpLMD|3189;Eurexp|euxassay_013902|ventricular layer	OMIM|602324
IPC-div1	LINC00461	0.317587443	4.42E-06		Eurexp|euxassay_008007|marginal layer, ventricular layer	OMIM|616611
IPC-div1	DENND1B	0.509403939	4.56E-06	Unclassified	BrainSpLMD|163486	OMIM|613292
IPC-div1	KIAA1731	0.992589702	4.58E-06			
IPC-div1	POC1A	1.912829361	4.60E-06	Unclassified	BrainSpLMD|25886	OMIM|614783;HPO|25886|Autosomal recessive inheritance, Brachydactyly, Clinodactyly, Cone-shaped epiphysis, Disproportionate short stature, High pitched voice, Hypoplastic pelvis, Hypoplastic sacrum, Long face, Macrocephaly, Mandibular prognathia, Microcephaly, Microtia, Nail dysplasia, Oligospermia, Pointed chin, Prominent forehead, Prominent nose, Short distal phalanx of finger, Short femoral neck, Short metacarpal, Short metatarsal, Small for gestational age, Small hand, Small nail, Sparse hair, Triangular face, Waddling gait
IPC-div1	RUVBL2	1.046176052	4.70E-06	Transcription regulatory protein	BrainSpLMD|10856;Eurexp|euxassay_002276|axial muscle, orbito-sphenoid, skeletal muscle, submandibular gland primordium, turbinate	OMIM|604788
IPC-div1	PSIP1	0.393025781	4.79E-06	Transcription regulatory protein	BrainSpLMD|11168;Eurexp|euxassay_008131|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, trigeminal V, vagus X, vibrissa, vomeronasal organ	OMIM|603620;COSMIC||AML
IPC-div1	NUMA1	0.312849754	4.90E-06	Structural protein	BrainSpLMD|4926;Eurexp|euxassay_010729|olfactory lobe, ventricular layer	OMIM|164009;COSMIC||APL;HPO|4926|Abnormality of cells of the granulocytic lineage, Acute promyelocytic leukemia, Somatic mutation
IPC-div1	TRAIP	2.378442358	5.05E-06	Unclassified	BrainSpLMD|10293	OMIM|605958;HPO|10293|Abnormality of dental enamel, Absent earlobe, Ambiguous genitalia, Atrial septal defect, Autosomal recessive inheritance, Cachexia, Clinodactyly of the 5th finger, Clitoral hypertrophy, Cognitive impairment, Cone-shaped epiphysis, Congenital diaphragmatic hernia, Convex nasal ridge, Craniosynostosis, Decreased fetal movement, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Hip dysplasia, Hypertrichosis, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Polyhydramnios, Prematurely aged appearance, Recurrent urinary tract infections, Reduced number of teeth, Sandal gap, Short stature, Small for gestational age, Sparse scalp hair, Talipes equinovarus, Ventricular septal defect
IPC-div1	WHSC1	1.029996156	5.25E-06			
IPC-div1	MARCKS	0.462265729	5.30E-06	Cytoskeletal protein	BrainSpLMD|4082	OMIM|177061
IPC-div1	CBX1	0.483274792	5.65E-06	DNA binding protein	BrainSpLMD|10951;Eurexp|euxassay_018066|cortex, incisor, lung, marginal layer, molar, neural retina, olfactory, orbito-sphenoid, petrous part, pituitary, skeletal muscle, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|604511
IPC-div1	RFC5	0.830740544	5.88E-06	DNA binding protein	BrainSpLMD|5985	OMIM|600407
IPC-div1	USP13	0.91914098	5.93E-06	Ubiquitin proteasome system protein	BrainSpLMD|8975	OMIM|603591
IPC-div1	TUBA1C	1.07759746	6.31E-06	Cytoskeletal protein	BrainSpLMD|84790	
IPC-div1	FIGN	1.494961897	6.40E-06	ATPase	BrainSpLMD|55137;Eurexp|euxassay_013646|dorsal grey horn, mantle layer, marginal layer, ventral grey horn	OMIM|605295
IPC-div1	RP11.407N17.6	0.463175728	6.70E-06			
IPC-div1	PARP2	0.650174086	6.86E-06	DNA binding protein;Enzyme: Ribosyltransferase	BrainSpLMD|10038	OMIM|607725
IPC-div1	PCNA	0.788181289	7.07E-06	Cell cycle control protein	BrainSpLMD|5111;Eurexp|euxassay_005732|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, spinal cord, ventricular layer	OMIM|176740;HPO|5111|Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Conjunctival telangiectasia, Cutaneous photosensitivity, Dysarthria, Dysphagia, Global developmental delay, Muscle weakness, Neurodegeneration, Pes cavus, Photophobia, Progressive, Progressive muscle weakness, Short stature, Unsteady gait
IPC-div1	CNIH4	0.57403813	7.19E-06	Unclassified	BrainSpLMD|29097	OMIM|617483
IPC-div1	RHOA	0.304619071	7.19E-06	GTPase	BrainSpLMD|387;BrainSpMouseDev|11635	OMIM|165390;COSMIC||diffuse gastric, T cell lymphomas, paediatric Burkitt lymphoma
IPC-div1	SEC11A	0.587377177	7.37E-06	Aminopeptidase	BrainSpLMD|23478;Eurexp|euxassay_003417|Meckel's cartilage, basisphenoid bone, calyces, cervical, cervico-thoracic, clavicle, dorsal root ganglion, glossopharyngeal IX, incisor, mantle layer, olfactory, orbital fissure, orbito-sphenoid, pancreas, respiratory, submandibular gland primordium, testis, thoracic, trigeminal V, vagus X, ventral grey horn, vibrissa	
IPC-div1	SGCB	0.428359192	7.38E-06	Structural protein	BrainSpLMD|6443;Eurexp|euxassay_000202|cervico-thoracic, dorsal root ganglion, extraembryonic component, ganglion, glossopharyngeal IX, mantle layer, muscle, nerve trunk, skeletal muscle, thoracic, trigeminal V, vagus X, ventral grey horn, vertebral axis muscle system	OMIM|600900;HPO|6443|Autosomal recessive inheritance, Calf muscle pseudohypertrophy, Elevated serum creatine phosphokinase, Juvenile onset, Limb-girdle muscle weakness, Muscular dystrophy, Pelvic girdle muscle atrophy, Proximal amyotrophy, Scapular winging, Shoulder girdle muscle atrophy
IPC-div1	CNTRL	1.079559735	7.43E-06	Unclassified	BrainSpLMD|11064;Eurexp|euxassay_016548|ventricular layer;BrainSpMouseDev|26666	OMIM|605496;COSMIC||MPN, NHL
IPC-div1	MYEF2	0.569241136	7.44E-06	Transcription regulatory protein	BrainSpLMD|50804;Eurexp|euxassay_001436|liver, otic capsule, vertebral axis muscle system	
IPC-div1	PHF19	2.042698567	7.63E-06	Transcription regulatory protein	BrainSpLMD|26147;Eurexp|euxassay_004365|cortex, ventricular layer;BrainSpMouseDev|49857	OMIM|609740
IPC-div1	NIF3L1	1.315515666	7.73E-06	Transcription regulatory protein	BrainSpLMD|60491	OMIM|605778
IPC-div1	HMGN3	0.376834048	7.74E-06	DNA binding protein	BrainSpLMD|9324;Eurexp|euxassay_010528|lens, olfactory;BrainSpMouseDev|60980	OMIM|604502
IPC-div1	TYMS	1.216844004	7.83E-06	Enzyme: Ligase	BrainSpLMD|7298;Eurexp|euxassay_008886|cardiovascular system, cavities and their linings, gland, integumental system, limb, marginal layer, mesenchyme, sensory organ, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|188350
IPC-div1	ZGRF1	0.682288822	8.48E-06	Unclassified	BrainSpLMD|55345;Eurexp|euxassay_012482|ventricular layer	
IPC-div1	FANCI	0.547920436	8.66E-06	Unclassified	BrainSpLMD|55215	OMIM|611360;HPO|55215|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
IPC-div1	LDLR	0.71822635	9.57E-06	Cell surface receptor	BrainSpLMD|3949;Eurexp|euxassay_010458|adrenal gland, cervical, cervico-thoracic, clavicle, hindgut, incisor, mandible, maxilla, metanephros, midgut, orbito-sphenoid, otic capsule, rib, submandibular gland primordium, thoracic, turbinate, ventral grey horn	OMIM|606945;HPO|3949|Abnormality of internal carotid artery, Angina pectoris, Aortic atherosclerosis, Autosomal dominant inheritance, Cerebral artery atherosclerosis, Corneal arcus, Coronary atherosclerosis, Dyspnea, Heart murmur, Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia, Hypertension, Increased circulating low-density lipoprotein levels, Left ventricular failure, Myocardial infarction, Myocardial steatosis, Peripheral arterial stenosis, Precocious atherosclerosis, Premature arteriosclerosis, Premature coronary artery disease, Renal artery stenosis, Sudden cardiac death, Xanthelasma
IPC-div1	SUZ12	1.076175496	9.75E-06	Unclassified	BrainSpLMD|23512;Eurexp|euxassay_011822|Meckel's cartilage, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, orbito-sphenoid, petrous part, scapula, tibia, turbinate	OMIM|606245;COSMIC||endometrial stromal tumour;HPO|23512|Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Accelerated skeletal maturation, Broad foot, Broad forehead, Broad thumb, Camptodactyly of finger, Deep philtrum, Deep-set nails, Feeding difficulties in infancy, Fine hair, Global developmental delay, Hoarse voice, Hypertelorism, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Joint stiffness, Large hands, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Micrognathia, Redundant skin, Retrognathia, Round face, Spasticity, Tall stature, Thin nail
IPC-div1	TUBBP1	0.505053727	9.89E-06			
IPC-div1	FANCB	1.889639398	1.02E-05	Unclassified	BrainSpLMD|2187	OMIM|300515;HPO|2187|Abnormal vertebral morphology, Abnormality of cardiovascular system morphology, Abnormality of chromosome stability, Abnormality of the optic nerve, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anal atresia, Anemia, Aplasia/Hypoplasia of the radius, Aqueductal stenosis, Atrioventricular canal defect, Enlarged kidney, Esophageal atresia, Global developmental delay, Growth delay, Hand polydactyly, Hemivertebrae, Hydrocephalus, Hydronephrosis, Hypopigmented skin patches, Hypoplasia of the radius, Intellectual disability, Intrauterine growth retardation, Irregular hyperpigmentation, Leukopenia, Low-set ears, Microcephaly, Microcornea, Phenotypic variability, Polyhydramnios, Proximal placement of thumb, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Scoliosis, Short humerus, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula, Transposition of the great arteries, Urethral atresia, Ventriculomegaly, X-linked recessive inheritance
IPC-div1	PLCB1	0.649775582	1.03E-05	Enzyme: Phospholipase	BrainSpLMD|23236	SFARI||Autism, 3 - Suggestive evidence;OMIM|607120;HPO|23236|Abnormality of skin morphology, Autosomal recessive inheritance, Developmental regression, Epileptic encephalopathy, Focal seizures, Generalized seizures, Hyperreflexia, Hypsarrhythmia, Infantile spasms, Muscular hypotonia of the trunk, Myoclonus, Spasticity
IPC-div1	E2F3	1.621347078	1.06E-05	Transcription factor	BrainSpLMD|1871;BrainSpMouseDev|13336	OMIM|600427
IPC-div1	NUP37	1.336424217	1.07E-05	Transport/cargo protein	BrainSpLMD|79023;Eurexp|euxassay_006091|ventricular layer	OMIM|609264
IPC-div1	C18orf54	0.710359156	1.08E-05	Unclassified		OMIM|613258
IPC-div1	SHISA2	0.287593814	1.09E-05	Integral membrane protein	BrainSpLMD|387914	OMIM|617324
IPC-div1	ENC1	0.462414326	1.14E-05	Structural protein	BrainSpLMD|8507;BrainSpMouseDev|13581	OMIM|605173
IPC-div1	DHX9	0.377987645	1.15E-05	Transcription factor	BrainSpLMD|1660;Eurexp|euxassay_010959|brain, cochlea, epithelium, facial VII, glossopharyngeal IX, incisor, left lung, marginal layer, metanephros, midgut, molar, olfactory, pancreas, pharyngo-tympanic tube, retina, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, utricle, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|603115
IPC-div1	HIST1H1C	1.022838112	1.17E-05	DNA binding protein	BrainSpLMD|3006;Eurexp|euxassay_015954|ventricular layer	OMIM|142710
IPC-div1	DCLRE1C	0.411628372	1.19E-05	Deoxyribonuclease	BrainSpLMD|64421	OMIM|605988;HPO|64421|Abnormality of lymphocytes, Absent tonsils, Alopecia, Anemia, Aplasia of the thymus, Aplasia/Hypoplasia of the eyebrow, Autosomal recessive inheritance, B lymphocytopenia, Chronic diarrhea, Desquamation of skin soon after birth, Diarrhea, Dry skin, Edema, Eosinophilia, Erythroderma, Failure to thrive, Fever, Genital ulcers, Hepatomegaly, Hypoplasia of the thymus, Hypoproteinemia, Lymph node hypoplasia, Lymphadenopathy, Oral ulcer, Otitis media, Panhypogammaglobulinemia, Phenotypic variability, Pneumonia, Pruritus, Recurrent bacterial infections, Recurrent fungal infections, Recurrent upper respiratory tract infections, Recurrent viral infections, Severe B lymphocytopenia, Severe combined immunodeficiency, Splenomegaly, Thickened skin, Thrombocytopenia
IPC-div1	MIR16.2	0.989810454	1.23E-05			
IPC-div1	H2AFY2	0.656688591	1.28E-05	DNA binding protein	BrainSpLMD|55506	OMIM|616141
IPC-div1	CLSPN	0.607522775	1.30E-05	Cell cycle control protein	BrainSpLMD|63967;Eurexp|euxassay_004199|ventricular layer	OMIM|605434
IPC-div1	MYO10	0.753027847	1.31E-05	Motor protein	BrainSpLMD|4651;Eurexp|euxassay_009373|mantle layer, marginal layer, thymus primordium, trigeminal V, ventricular layer	OMIM|601481
IPC-div1	EFS	1.504672744	1.35E-05	Unclassified	BrainSpLMD|10278	OMIM|609906
IPC-div1	E2F7	1.090079149	1.42E-05	Transcription factor	BrainSpLMD|144455;Eurexp|euxassay_011832|cortex, ventricular layer;BrainSpMouseDev|32159	OMIM|612046
IPC-div1	DR1	0.755145617	1.47E-05	Transcription regulatory protein	BrainSpLMD|1810	OMIM|601482
IPC-div1	E2F2	1.190668509	1.50E-05	Transcription factor	BrainSpLMD|1870;BrainSpMouseDev|88998	OMIM|600426
IPC-div1	HNRNPK	0.474448412	1.51E-05	Ribonucleoprotein	BrainSpLMD|3190	OMIM|600712;HPO|3190|Autosomal dominant inheritance, Constipation, Craniosynostosis, Cryptorchidism, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Feeding difficulties, Generalized hypotonia, Global developmental delay, High palate, Hip dysplasia, Intellectual disability, Inverted nipples, Long face, Long palpebral fissure, Microtia, Oligodontia, Open mouth, Overlapping toe, Pectus excavatum, Poor speech, Postaxial polydactyly, Ptosis, Sacral dimple, Scoliosis, Sparse lateral eyebrow, Thickened nuchal skin fold, Underdeveloped nasal alae, Wide intermamillary distance, Wide nasal ridge
IPC-div1	ZNF292	0.285407836	1.56E-05	Transcription factor		SFARI||Autism, 4 - Minimal evidence;OMIM|616213
IPC-div1	KIAA0586	1.133594331	1.60E-05	Unclassified	BrainSpLMD|9786	OMIM|610178;HPO|9786|Abnormality of eye movement, Abnormality of the pinna, Anencephaly, Aplastic clavicles, Apnea, Ataxia, Atrial septal defect, Autosomal recessive inheritance, Biparietal narrowing, Cerebellar vermis hypoplasia, Cleft palate, Congenital diaphragmatic hernia, Depressed nasal bridge, Episodic tachypnea, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Hydrocephalus, Hyporeflexia, Intellectual disability, Long face, Low-set ears, Micromelia, Micropenis, Molar tooth sign on MRI, Muscular hypotonia, Narrow chest, Nystagmus, Oculomotor apraxia, Polyhydramnios, Polymicrogyria, Postaxial polydactyly, Preaxial polydactyly, Pulmonary hypoplasia, Retinal coloboma, Short neck, Short ribs, Tachypnea
IPC-div1	HELLS	0.289370541	1.63E-05	DNA binding protein	BrainSpLMD|3070	OMIM|603946;HPO|3070|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Congenital onset, Decreased antibody level in blood, Depressed nasal bridge, Epicanthus, Global developmental delay, Hypertelorism, Intellectual disability, Lymphopenia, Macrocephaly, Malabsorption, Micrognathia, Recurrent infections, Recurrent respiratory infections, Short stature
IPC-div1	CTNND1	0.499741549	1.76E-05	Adhesion molecule	BrainSpLMD|1500;BrainSpMouseDev|12173	OMIM|601045;COSMIC||large intestine carcinoma
IPC-div1	RP11.138A9.2	0.482893499	1.78E-05			
IPC-div1	RP11.168J18.6	0.86204629	1.85E-05			
IPC-div1	ELAVL2	0.370694008	1.96E-05	RNA binding protein	BrainSpLMD|1993;Eurexp|euxassay_005246|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, oesophagus, olfactory, pharynx, respiratory, retina, spinal cord, stomach, testis, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|601673
IPC-div1	MAT2B	1.25052125	2.09E-05	Enzyme: Adenosyltransferase	BrainSpLMD|27430;Eurexp|euxassay_000623|olfactory	OMIM|605527
IPC-div1	HP08942	0.998768827	2.13E-05			
IPC-div1	ERH	0.394184702	2.16E-05	Transcription regulatory protein	BrainSpLMD|2079;Eurexp|euxassay_018034|orbito-sphenoid, ventricular layer	OMIM|601191
IPC-div1	EXOSC8	0.496437293	2.24E-05	Ribonuclease	BrainSpLMD|11340	OMIM|606019;HPO|11340|Autosomal recessive inheritance, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Failure to thrive, Feeding difficulties, Global developmental delay, Hearing impairment, Hypoplasia of the corpus callosum, Muscle weakness, Respiratory failure, Spastic tetraparesis, Spinal muscular atrophy, Visual impairment
IPC-div1	ACTL6A	0.421920423	2.25E-05	DNA binding protein	BrainSpLMD|86;Eurexp|euxassay_013581|cortex, epithelium, incisor, left lung, liver, molar, olfactory, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|604958
IPC-div1	CHEK1	0.790447381	2.28E-05	Serine/threonine kinase	BrainSpLMD|1111	OMIM|603078
IPC-div1	IFT122	1.681721466	2.29E-05	Unclassified	BrainSpLMD|55764;Eurexp|euxassay_011142|choroid plexus, dorsal root ganglion, metanephros, olfactory, pituitary, testis	OMIM|606045;HPO|55764|Abnormal diaphysis morphology, Abnormal toenail morphology, Abnormality of the abdominal wall, Abnormality of the fingernails, Abnormality of the metaphysis, Anodontia, Anteverted nares, Autosomal recessive inheritance, Bicuspid aortic valve, Brachydactyly, Broad distal phalanges of all fingers, Broad toe, Chronic kidney disease, Clinodactyly, Craniosynostosis, Dolichocephaly, Ectodermal dysplasia, Epicanthus, Everted lower lip vermilion, Fibular hypoplasia, Fine hair, Finger syndactyly, Flattened epiphysis, Frontal bossing, Full cheeks, Hepatic cysts, Hepatic failure, Hepatic fibrosis, Hepatomegaly, High, narrow palate, Hypocalcemia, Hypodontia, Hypoplasia of dental enamel, Hypotelorism, Joint hyperflexibility, Joint laxity, Malformation of the hepatic ductal plate, Microdontia, Myopia, Narrow chest, Nystagmus, Osteoporosis, Pectus excavatum, Prominent occiput, Protuberant abdomen, Radial deviation of finger, Renal magnesium wasting, Retinal dystrophy, Rhizomelia, Sagittal craniosynostosis, Scaphocephaly, Short distal phalanx of finger, Short humerus, Short nail, Short ribs, Short toe, Single transverse palmar crease, Slow-growing hair, Sparse hair, Telecanthus, Thin nail, Tubulointerstitial nephritis, Wide nasal bridge, Widely spaced teeth
IPC-div1	KCTD15	1.457941157	2.32E-05	Ion channel	BrainSpLMD|79047	OMIM|615240
IPC-div1	CBL	0.746829199	2.33E-05	Ubiquitin proteasome system protein	BrainSpLMD|867	OMIM|165360;COSMIC||AML, JMML, MDS;HPO|867|Aortic valve stenosis, Autosomal dominant inheritance, Bicuspid aortic valve, Cafe-au-lait spot, Cryptorchidism, Cubitus valgus, Deep philtrum, Delayed speech and language development, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Fine hair, Frontal bossing, Generalized hypotonia, Global developmental delay, Hypertelorism, Joint hypermobility, Joint laxity, Juvenile myelomonocytic leukemia, Long philtrum, Low-set ears, Macrotia, Mitral regurgitation, Pectus excavatum, Phenotypic variability, Posteriorly rotated ears, Ptosis, Short neck, Somatic mutation, Sparse hair, Thick vermilion border, Triangular face, Webbed neck, Wide intermamillary distance
IPC-div1	NUP107	0.994398913	2.56E-05	Transport/cargo protein	BrainSpLMD|57122	OMIM|607617;HPO|57122|Aplasia/Hypoplasia of the breasts, Aplasia/hypoplasia of the uterus, Autosomal recessive inheritance, Decreased fertility, Decreased serum estradiol, Delayed puberty, Delayed skeletal maturation, Gonadal dysgenesis, Hypoalbuminemia, Increased circulating gonadotropin level, Minimal change glomerulonephritis, Nephrotic syndrome, Osteopenia, Osteoporosis of vertebrae, Premature ovarian insufficiency, Primary amenorrhea, Progressive, Proteinuria, Sparse pubic hair, Stage 5 chronic kidney disease, Streak ovary, Variable expressivity
IPC-div1	CLIC1	1.057496455	2.62E-05	Intracellular ligand gated channel	BrainSpLMD|1192	OMIM|602872
IPC-div1	NEUROG2	1.036514151	2.68E-05	Transcription factor	BrainSpLMD|63973;Eurexp|euxassay_017863|lateral wall, mantle layer, neural retina, roof plate, ventricular layer;BrainSpMouseDev|11710	OMIM|606624
IPC-div1	TMEM74	2.240982094	2.76E-05	Unclassified	BrainSpLMD|157753	OMIM|613935
IPC-div1	CENPK	0.649725053	2.78E-05	Unclassified	BrainSpLMD|64105	OMIM|611502
IPC-div1	PRDX1	0.686838666	2.84E-05	Enzyme: Peroxidase	BrainSpLMD|5052	OMIM|176763
IPC-div1	CEP85	1.795094236	3.02E-05	Unclassified	BrainSpLMD|64793	
IPC-div1	HNRNPM	0.920353423	3.27E-05	Ribonucleoprotein	BrainSpLMD|4670	OMIM|160994
IPC-div1	LHX2	0.518455425	3.29E-05	Transcription regulatory protein	BrainSpLMD|9355;BrainSpMouseDev|16641	OMIM|603759
IPC-div1	HMGN2P4	0.254100438	3.30E-05			
IPC-div1	CCDC34	1.108096029	3.39E-05	Unclassified	BrainSpLMD|91057	OMIM|612324
IPC-div1	CARD8	1.024161954	3.41E-05	Adapter molecule	BrainSpLMD|22900	OMIM|609051
IPC-div1	MIS18A	0.880313548	3.49E-05	Unclassified	BrainSpLMD|54069	
IPC-div1	CSTF1	0.83576817	3.61E-05	RNA binding protein	BrainSpLMD|1477	OMIM|600369
IPC-div1	CBFA2T2	0.648841942	3.76E-05	Transcription factor	BrainSpLMD|9139;Eurexp|euxassay_019496|lung, marginal layer, neural retina, olfactory, pituitary, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|12181	OMIM|603672
IPC-div1	TRIM45	0.842789793	3.80E-05	Transcription regulatory protein	BrainSpLMD|80263;Eurexp|euxassay_011322|axial skeleton, olfactory, vomeronasal organ	OMIM|609318
IPC-div1	CCDC14	0.471175053	3.87E-05	Transport/cargo protein	BrainSpLMD|64770	OMIM|617147
IPC-div1	CCDC77	1.295696979	3.88E-05	Unclassified	BrainSpLMD|84318	
IPC-div1	XRCC2	1.39835601	3.91E-05	DNA binding protein	BrainSpLMD|7516	OMIM|600375;HPO|7516|Abnormality of chromosome stability, Absent scaphoid, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Global developmental delay, Growth delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Patent ductus arteriosus, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia
IPC-div1	TUG1	0.30863589	4.24E-05		BrainSpLMD|55000	OMIM|614971
IPC-div1	KHDRBS1	0.400411321	4.29E-05	RNA binding protein	BrainSpLMD|10657	OMIM|602489
IPC-div1	ZNF724P	1.198258948	4.35E-05			
IPC-div1	H2AFY	0.812540715	4.38E-05	DNA binding protein	BrainSpLMD|9555	OMIM|610054
IPC-div1	NCAPD3	1.366027215	4.40E-05	Unclassified	BrainSpLMD|23310	OMIM|609276
IPC-div1	ZNF492	1.051111761	4.58E-05	Transcription factor		
IPC-div1	ING3	0.730447972	4.68E-05	Cell cycle control protein	BrainSpLMD|54556	OMIM|607493
IPC-div1	MEX3A	0.28255904	4.82E-05	RNA binding protein	Eurexp|euxassay_010898|neural retina, olfactory, vomeronasal organ	OMIM|611007
IPC-div1	AGO1	0.74363338	4.98E-05	Translation regulatory protein	BrainSpLMD|26523;Eurexp|euxassay_012863|facial VII, incisor, mantle layer, marginal layer, molar, neural retina, olfactory, trigeminal V, ventricular layer	OMIM|606228
IPC-div1	MND1	1.185204232	5.01E-05	Unclassified	BrainSpLMD|84057	OMIM|611422
IPC-div1	HSPA13	0.415735048	5.03E-05	Chaperone	BrainSpLMD|6782	OMIM|601100
IPC-div1	NAB1	1.241055567	5.04E-05	Transcription regulatory protein	BrainSpLMD|4664;Eurexp|euxassay_019676|bladder;BrainSpMouseDev|17703	OMIM|600800
IPC-div1	SRSF3	0.376677188	5.05E-05	RNA binding protein	BrainSpLMD|6428	OMIM|603364;COSMIC||follicular lymphoma
IPC-div1	HNRNPC	0.31314908	5.12E-05	RNA binding protein		OMIM|164020
IPC-div1	YTHDF2	0.727131293	5.28E-05	Unclassified	BrainSpLMD|51441	OMIM|610640
IPC-div1	FRMD4B	0.720736051	5.59E-05	Unclassified		OMIM|617467
IPC-div1	DZIP3	0.750354291	5.85E-05	Ubiquitin proteasome system protein	BrainSpLMD|9666	OMIM|608672
IPC-div1	CD63	0.348278507	5.94E-05	Integral membrane protein	BrainSpLMD|967	OMIM|155740
IPC-div1	PSMA4	0.793852627	6.00E-05	Ubiquitin proteasome system protein	BrainSpLMD|5685	OMIM|176846
IPC-div1	XRCC6P4	0.855633373	6.20E-05			
IPC-div1	CMC1	0.652258763	6.20E-05	Unclassified	BrainSpLMD|152100	OMIM|615166
IPC-div1	HAUS8	1.512126867	6.25E-05	Unclassified	BrainSpLMD|93323	OMIM|613434
IPC-div1	RCC1	1.613157163	6.42E-05	Guanine nucleotide exchange factor	BrainSpLMD|1104;Eurexp|euxassay_000016|lateral wall, liver, lung, mandible, mantle layer, marginal layer, metanephros, palatal shelf, submandibular gland primordium, thymus primordium, trigeminal V, ventricular layer, vibrissa	OMIM|179710
IPC-div1	EDRF1	0.740578803	6.45E-05	Transcription regulatory protein	BrainSpLMD|26098	
IPC-div1	CTDSPL2	0.770612232	6.52E-05	Unclassified	BrainSpLMD|51496	
IPC-div1	ZIC2	1.39326863	6.73E-05	Transcription regulatory protein	BrainSpLMD|7546;BrainSpMouseDev|22529	OMIM|603073;HPO|7546|Abnormal facial shape, Autosomal dominant inheritance, Global developmental delay, Holoprosencephaly, Hydrocephalus, Intellectual disability, Microcephaly, Synophrys, Trigonocephaly
IPC-div1	CMC2	0.971194351	6.78E-05	Unclassified	BrainSpLMD|56942	
IPC-div1	PSME2	1.686501738	6.84E-05	Ubiquitin proteasome system protein	BrainSpLMD|5721;Eurexp|euxassay_007332|thymus primordium	OMIM|602161
IPC-div1	ACTR1A	0.297833366	6.85E-05	Cytoskeletal protein	BrainSpLMD|10121;Eurexp|euxassay_006567|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605143
IPC-div1	UBE2L3	0.967629957	6.86E-05	Ubiquitin proteasome system protein	BrainSpLMD|7332	OMIM|603721
IPC-div1	GOT1	1.495103809	7.12E-05	Enzyme: Aminotransferase	BrainSpLMD|2805;Eurexp|euxassay_018495|adrenal gland, brain, cortex, diaphragm, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, oral epithelium, spinal cord, stroma, thymus primordium, trigeminal V, vagus X, ventricle, vertebral axis muscle system	OMIM|138180
IPC-div1	ALG8	0.562123537	7.39E-05	Enzyme: Glycosyltransferase	BrainSpLMD|79053	OMIM|608103;HPO|79053|Abnormality of the renal tubule, Cataract, Hepatic failure, Lymphedema
IPC-div1	SMTN	1.528999482	7.50E-05	Cytoskeletal associated protein	BrainSpLMD|6525;Eurexp|euxassay_002787|alimentary system, hindgut, limb, midgut, oesophagus, rectum, stomach, vertebral axis muscle system, wall	OMIM|602127
IPC-div1	TICRR	1.899580628	7.53E-05	Unclassified	BrainSpLMD|90381	OMIM|613298
IPC-div1	XRCC6	0.443482292	7.56E-05	DNA binding protein	BrainSpLMD|2547;Eurexp|euxassay_003500|axial muscle, left, orbito-sphenoid, pancreas, right, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|152690
IPC-div1	UXT	0.622452915	7.72E-05	Transcription regulatory protein	BrainSpLMD|8409	OMIM|300234
IPC-div1	KBTBD2	0.862571571	7.79E-05	Cytoskeletal associated protein	BrainSpLMD|25948	
IPC-div1	PCBD2	0.795570776	7.85E-05	Enzyme: Dehydratase	BrainSpLMD|84105	OMIM|609836
IPC-div1	RP11.192N10.2	0.331016614	8.04E-05			
IPC-div1	HMGN5	0.595600473	8.08E-05	Transcription regulatory protein	BrainSpLMD|79366;BrainSpMouseDev|30371	OMIM|300385
IPC-div1	PNRC2	0.687700998	8.13E-05	Ligand	Eurexp|euxassay_002876|thymus primordium, ventricular layer	OMIM|611882
IPC-div1	CEP57L1	0.391092877	8.40E-05	Unclassified	BrainSpLMD|285753	
IPC-div1	PTPRK	0.568403749	8.79E-05	Receptor tyrosine phosphatase	BrainSpLMD|5796;Eurexp|euxassay_009627|mantle layer, marginal layer, midgut, stomach, ventral grey horn, vibrissa;BrainSpMouseDev|19035	OMIM|602545;COSMIC||colorectal
IPC-div1	LMNB1	1.34011976	8.94E-05	Structural protein	BrainSpLMD|4001;Eurexp|euxassay_015910|axial skeleton, incisor, lung, marginal layer, metanephros, sublingual gland primordium, thymus primordium, thyroid, trachea, ventricular layer, vertebral axis muscle system	OMIM|150340;HPO|4001|Abnormal pyramidal signs, Abnormality of the urinary system, Adult onset, Ataxia, Autonomic bladder dysfunction, Autonomic erectile dysfunction, Autosomal dominant inheritance, Babinski sign, Constipation, Corpus callosum atrophy, Decreased sweating due to autonomic dysfunction, Depressivity, Diffuse leukoencephalopathy, Dilatation of the bladder, Gait disturbance, Gliosis, Hyperreflexia, Hypotension, Impotence, Leukodystrophy, Nystagmus, Orthostatic hypotension due to autonomic dysfunction, Personality changes, Progressive, Progressive neurologic deterioration, Pseudobulbar paralysis, Spasticity, Symmetric peripheral demyelination, Tetraparesis, Tremor, Urinary urgency
IPC-div1	RP11.386M24.4	0.651533345	9.15E-05			
IPC-div1	IGSF9	1.136456356	9.23E-05	Immunoglobulin	BrainSpLMD|57549;Eurexp|euxassay_005660|adenohypophysis, bladder, epithelium, incisor, metanephros, midgut, molar, naris, naso-lacrimal duct, olfactory, oral epithelium, pharyngo-tympanic tube, pharynx, rectum, respiratory, saccule, stomach, submandibular gland primordium, urethra, utricle, vibrissa	OMIM|609738
IPC-div1	SORT1	0.717987023	9.35E-05	Cell surface receptor	BrainSpLMD|6272;BrainSpMouseDev|20423	OMIM|602458
IPC-div1	PHF21B	0.549601168	9.42E-05	DNA binding protein	BrainSpLMD|112885;Eurexp|euxassay_008948|brain, spinal cord	OMIM|616727
IPC-div1	ZNF92	0.961640516	9.42E-05	Transcription regulatory protein	BrainSpLMD|168374	OMIM|603974
IPC-div1	DAP	1.065471799	9.65E-05	Unclassified	BrainSpLMD|1611;Eurexp|euxassay_008199|clavicle, femur, mandible, maxilla, nucleus pulposus, orbito-sphenoid, pancreas, rib, turbinate	OMIM|600954
IPC-div1	NFIX	0.863808572	0.000105414	Transcription factor	BrainSpLMD|4784;BrainSpMouseDev|17799	SFARI||Autism, No category;OMIM|164005;HPO|4784|Accelerated skeletal maturation, Advanced eruption of teeth, Agenesis of corpus callosum, Anteverted nares, Anxiety, Astigmatism, Atlantoaxial dislocation, Atrial septal defect, Autosomal dominant inheritance, Blue sclerae, Bullet-shaped middle phalanges of the hand, Cerebral atrophy, Choanal atresia, Choanal stenosis, Coxa valga, Cutis marmorata, Death in childhood, Decreased body weight, Delayed speech and language development, Depressed nasal bridge, Distal widening of metacarpals, Downslanted palpebral fissures, Eclabion, Everted lower lip vermilion, Failure to thrive, Frontal bossing, Generalized hypotonia, Gingival overgrowth, Glossoptosis, Hearing impairment, High forehead, Hypermetropia, Hypoplasia of the odontoid process, Intellectual disability, Irregular dentition, Large sternal ossification centers, Laryngomalacia, Long face, Long fingers, Low-set ears, Macrocephaly, Macrogyria, Malar flattening, Mandibular prognathia, Midface retrusion, Motor delay, Narrow face, Narrow mouth, Nystagmus, Obstructive sleep apnea, Omphalocele, Overfolded helix, Overgrowth, Patent ductus arteriosus, Pectus excavatum, Prominence of the premaxilla, Prominent forehead, Pulmonary arterial hypertension, Recurrent aspiration pneumonia, Retrognathia, Scoliosis, Shallow orbits, Short distal phalanx of finger, Short mandibular rami, Short nose, Short philtrum, Short sternum, Slender long bone, Sporadic, Strabismus, Synophrys, Tall stature, Thick eyebrow, Umbilical hernia, Ventriculomegaly
IPC-div1	POC5	1.12741506	0.000110321	Unclassified	BrainSpLMD|134359;Eurexp|euxassay_001514|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	
IPC-div1	NDC1	1.313007505	0.000110508	Anchor protein	BrainSpLMD|55706	OMIM|610115
IPC-div1	RFC4	0.727339668	0.000112696	DNA binding protein	BrainSpLMD|5984	OMIM|102577
IPC-div1	CEP152	1.322678339	0.000114404	Unclassified	Eurexp|euxassay_011313|axial skeleton, basioccipital bone, choroid invagination, choroid plexus, epithelium, femur, humerus, inner ear, olfactory, pelvic girdle, pituitary, roof plate, scapula, vomeronasal organ	OMIM|613529;HPO|22995|Abnormal cortical bone morphology, Abnormal cortical gyration, Abnormality of dental enamel, Absent earlobe, Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Bimanual synkinesia, Cachexia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Heterotopia, High palate, Hip dysplasia, Hyperreflexia, Hypodontia, Hypoplasia of the frontal lobes, Impulsivity, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint hyperflexibility, Large beaked nose, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Oligodontia, Pachygyria, Prematurely aged appearance, Prominent nasal bridge, Reduced number of teeth, Retrognathia, Sandal gap, Short stature, Sloping forehead, Sparse scalp hair, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
IPC-div1	BTG3	0.82404665	0.000118574	Cell cycle control protein	BrainSpLMD|10950	OMIM|605674
IPC-div1	FAM111A	1.177585441	0.000119456	Unclassified	BrainSpLMD|63901;Eurexp|euxassay_011616|lobe, mandible, maxilla, orbito-sphenoid, thymus primordium, thyroid, ventricular layer	OMIM|615292;HPO|63901|Abnormality of the medullary cavity of the long bones, Anemia, Aniridia, Ankyloglossia, Ascites, Autosomal dominant inheritance, Basal ganglia calcification, Brachydactyly, Congenital cataract, Delayed closure of the anterior fontanelle, Failure to thrive, Flared metaphysis, Global developmental delay, Hydrocephalus, Hypermetropia, Hypocalcemia, Hypoparathyroidism, Hypoplastic spleen, Increased bone mineral density, Macrocephaly, Micropenis, Microphthalmia, Papilledema, Prominent forehead, Retinal calcification, Seizures, Severe short stature, Short stature, Slender long bone, Small for gestational age, Thickened cortex of long bones, Transient hypophosphatemia
IPC-div1	SESN3	0.738917344	0.000120269	Cell cycle control protein	BrainSpLMD|143686	OMIM|607768
IPC-div1	CRNKL1	0.332756361	0.000120541	RNA binding protein	BrainSpLMD|51340	OMIM|610952;COSMIC||base cell carcinoma
IPC-div1	DCAF16	0.34546947	0.000122338	Unclassified	BrainSpLMD|54876	
IPC-div1	NUPL1	0.642280867	0.000125768			
IPC-div1	CDKAL1	0.61719181	0.000126	Unclassified	BrainSpLMD|54901;Eurexp|euxassay_005580|olfactory	OMIM|611259
IPC-div1	PHIP	0.371501028	0.000127686	Ligand	BrainSpLMD|55023	SFARI||Autism, 4 - Minimal evidence;OMIM|612870
IPC-div1	SMIM14	0.592810143	0.000128068	Unclassified	BrainSpLMD|201895;Eurexp|euxassay_007513|brain, choroid invagination, choroid plexus, clavicle, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, liver, mandible, maxilla, neural retina, orbito-sphenoid, rib, roof plate, scapula, spinal cord, tibia, trigeminal V, vagus X, vestibulocochlear VIII	
IPC-div1	TMX1	0.520126717	0.000129791	Enzyme: Oxidoreductase	BrainSpLMD|81542	OMIM|610527
IPC-div1	UCP2	1.157622024	0.000133986	Transport/cargo protein	BrainSpLMD|7351;Eurexp|euxassay_010584|liver, olfactory, vibrissa, vomeronasal organ	OMIM|601693;HPO|7351|Abnormality of fatty-acid metabolism, Coma, Diarrhea, Hepatomegaly, Hyperhidrosis, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Neonatal hypoglycemia, Pallor, Pancreatic islet-cell hyperplasia, Progressive neurologic deterioration, Tachycardia, Vomiting
IPC-div1	PTPLAD1	0.530311686	0.00013422			
IPC-div1	DBN1	0.67088117	0.000136171	Cytoskeletal associated protein	BrainSpLMD|1627	OMIM|126660
IPC-div1	YAF2	1.156629943	0.000140856	Transcription regulatory protein	BrainSpLMD|10138;Eurexp|euxassay_008132|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|607534
IPC-div1	RPL21P28	0.811045681	0.000143545			
IPC-div1	DTL	0.909960129	0.000148122	Unclassified	BrainSpLMD|51514;Eurexp|euxassay_012578|choroid plexus, ventricular layer	OMIM|610617
IPC-div1	SCARNA22	0.680418809	0.000148349			
IPC-div1	RCOR1	0.953040269	0.000153057	Transcription regulatory protein	BrainSpLMD|23186;Eurexp|euxassay_011825|olfactory, vomeronasal organ	OMIM|607675
IPC-div1	MDK	0.438985469	0.000154565	Cytokine	BrainSpLMD|4192;Eurexp|euxassay_000525|anal region, gut, head mesenchyme, lung, mesenchyme, metanephros, penis, physiological umbilical hernia, spleen primordium, trunk mesenchyme, ventricular layer	OMIM|162096
IPC-div1	MCM10	1.562023441	0.000157311	DNA binding protein	BrainSpLMD|55388	OMIM|609357
IPC-div1	SAE1	0.821898713	0.000166122	Enzyme: Ligase	BrainSpLMD|10055;Eurexp|euxassay_005976|embryo	SFARI||Autism, No category;OMIM|613294
IPC-div1	GTF3C5	1.463304966	0.000171407	Transcription factor	BrainSpLMD|9328	OMIM|604890
IPC-div1	ALDH16A1	1.08560421	0.000174749	Unclassified	BrainSpLMD|126133	OMIM|613358
IPC-div1	ZC3H12C	0.871369376	0.00017823	Unclassified		OMIM|615001
IPC-div1	YBX1	0.286250861	0.00018224	Transcription factor	BrainSpLMD|4904	OMIM|154030
IPC-div1	TIMELESS	1.059309045	0.00018326	Transcription regulatory protein	BrainSpLMD|8914	OMIM|603887
IPC-div1	SNRPC	0.616030428	0.000189553	Ribonucleoprotein	BrainSpLMD|6631	OMIM|603522
IPC-div1	GABPB1	0.76997728	0.000192452	Transcription factor	BrainSpLMD|2553;BrainSpMouseDev|14167	OMIM|600610
IPC-div1	MDM1	1.328306073	0.000199671	Unclassified	BrainSpLMD|56890	OMIM|613813
IPC-div1	PHLDA1	0.322936947	0.000200121	Transcription factor	BrainSpLMD|22822;Eurexp|euxassay_008411|anterior, axial skeleton, bladder, cartilaginous ring, cornea, diaphragm, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, hepatic duct, hindgut, incisor, inner ear, left lung, liver, mantle layer, medulla, meninges, metanephros, midgut, molar, naso-lacrimal duct, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, right lung, skeletal muscle, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, tongue, trigeminal V, ureter, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|605335
IPC-div1	POLQ	1.355350211	0.000207305	DNA polymerase	BrainSpLMD|10721	OMIM|604419;COSMIC||oral SCC, breast cancer
IPC-div1	HNRNPLL	0.758453632	0.000214161	RNA binding protein	BrainSpLMD|92906	OMIM|611208
IPC-div1	ATAD5	0.528268052	0.000217426	DNA repair protein	BrainSpLMD|79915;Eurexp|euxassay_013782|cortex, liver, metanephros, ventricular layer	OMIM|609534
IPC-div1	CCDC112	0.507260552	0.000218691	Unclassified	BrainSpLMD|153733	
IPC-div1	RP11.366L20.2	0.925609647	0.000219062			
IPC-div1	MDC1	0.82911892	0.000220277	DNA repair protein	BrainSpLMD|9656;Eurexp|euxassay_014183|olfactory lobe, ventricular layer	OMIM|607593
IPC-div1	PRPF8	0.268339397	0.000229792	RNA binding protein	BrainSpLMD|10594	OMIM|607300;HPO|10594|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypopigmentation of the fundus, Hypoplasia of penis, Incomplete penetrance, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Retinal degeneration, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
IPC-div1	MAGOHB	0.724899841	0.000247789	Unclassified	BrainSpLMD|55110	
IPC-div1	SGCE	0.256741913	0.000250372	Extracellular matrix protein	BrainSpLMD|8910	OMIM|604149;HPO|8910|Agoraphobia, Anxiety, Autosomal dominant inheritance, Depressivity, Incomplete penetrance, Juvenile onset, Myoclonus, Obsessive-compulsive behavior, Torticollis, Tremor, Writer's cramp
IPC-div1	VTA1	0.306096932	0.000251376	Unclassified	BrainSpLMD|51534	OMIM|610902
IPC-div1	RAD18	1.201399583	0.000251433	DNA binding protein	BrainSpLMD|56852	OMIM|605256
IPC-div1	ITGB3BP	0.749241219	0.00025681	Transcription regulatory protein	BrainSpLMD|23421	OMIM|605494
IPC-div1	ZNF608	0.741252155	0.000273319	Unclassified		
IPC-div1	PARK7	0.42804609	0.000273669	RNA binding protein	BrainSpLMD|11315	OMIM|602533;HPO|11315|Adult onset, Anxiety, Autosomal recessive inheritance, Blepharospasm, Bradykinesia, Postural tremor, Psychotic episodes, Resting tremor, Rigidity, Slow progression
IPC-div1	TPRKB	0.715595634	0.000281424	Unclassified	BrainSpLMD|51002	OMIM|608680
IPC-div1	RP11.663P9.2	0.87063163	0.000297534			
IPC-div1	RFC3	1.248568603	0.000312965	DNA binding protein	BrainSpLMD|5983;Eurexp|euxassay_010694|submandibular gland primordium, ventricular layer	OMIM|600405
IPC-div1	LRRN1	1.37105336	0.000314149	Integral membrane protein	BrainSpLMD|57633;Eurexp|euxassay_000278|cochlea, dorsal root ganglion, head mesenchyme, limb, lip, mantle layer, marginal layer, mesenchyme, olfactory, tail, trigeminal V, ventricular layer, vertebral axis muscle system, vibrissa	
IPC-div1	N4BP2	0.321974639	0.000315133	DNA binding protein	BrainSpLMD|55728	
IPC-div1	FJX1	0.779678198	0.000315238	Unclassified	BrainSpLMD|24147	OMIM|612206
IPC-div1	NONO	0.452499071	0.000315971	RNA binding protein	BrainSpLMD|4841;Eurexp|euxassay_006509|embryo	OMIM|300084;COSMIC||papillary renal;HPO|4841|Aggressive behavior, Ataxia, Dental crowding, Frontal bossing, Generalized hypotonia, Hallux valgus, High, narrow palate, Increased head circumference, Intellectual disability, Joint laxity, Kyphosis, Left ventricular noncompaction, Long face, Malar flattening, Mild global developmental delay, Motor delay, Myopia, Narrow mouth, Nasal speech, Neonatal hypotonia, Open mouth, Patent ductus arteriosus, Patent foramen ovale, Perseveration, Pes planus, Prominent nose, Right ventricular hypertrophy, Scoliosis, Seizures, Slender build, Strabismus, Thickened calvaria, Tremor, Upslanted palpebral fissure, Ventricular septal defect, X-linked recessive inheritance
IPC-div1	TIMM8B	0.381424112	0.000325083	Membrane transport protein	BrainSpLMD|26521;Eurexp|euxassay_005088|axial muscle, cortex, glossopharyngeal IX, incisor, mantle layer, marginal layer, molar, olfactory, respiratory, submandibular gland primordium, testis, thymus primordium, trigeminal V, vagus X, ventricular layer	OMIM|606659
IPC-div1	ARPP19	0.358753915	0.000336358	Unclassified	BrainSpLMD|10776	OMIM|605487
IPC-div1	PHC2	0.797439331	0.000342475	Ubiquitin proteasome system protein	BrainSpLMD|1912	OMIM|602979
IPC-div1	PIM1	1.194380872	0.00034927	Serine/threonine kinase	BrainSpLMD|5292	OMIM|164960;COSMIC||NHL
IPC-div1	MAGED1	0.332641284	0.000350392	Cell cycle control protein	BrainSpLMD|9500;Eurexp|euxassay_012384|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system;BrainSpMouseDev|60907	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300224
IPC-div1	TK1	1.618866098	0.000354301	Enzyme: Phosphotransferase	BrainSpLMD|7083;Eurexp|euxassay_001974|thymus primordium	OMIM|188300
IPC-div1	LAPTM4A	0.828255732	0.000355494	Membrane transport protein	BrainSpLMD|9741	
IPC-div1	JADE3	1.204025222	0.000355703	Transcription regulatory protein	BrainSpLMD|9767	OMIM|300618
IPC-div1	JADE1	0.608652688	0.000357735	Unclassified	BrainSpLMD|79960	OMIM|610514
IPC-div1	PTMS	0.814558763	0.000364187	DNA binding protein	BrainSpLMD|5763	OMIM|168440
IPC-div1	TMEM158	0.670582218	0.000365126	Unclassified	BrainSpLMD|25907	
IPC-div1	DCAF7	0.657881759	0.00037058	Unclassified	BrainSpLMD|10238;BrainSpMouseDev|47674	OMIM|605973
IPC-div1	TUBAP2	0.553631251	0.000370638			
IPC-div1	CEP192	0.591201937	0.000371634	Cytoskeletal protein	BrainSpLMD|55125	OMIM|616426
IPC-div1	ING1	0.428230035	0.000372147	Transcription regulatory protein	BrainSpLMD|3621	OMIM|601566;HPO|3621|Autosomal recessive inheritance, Squamous cell carcinoma
IPC-div1	PABPN1	0.500287006	0.000374112	RNA binding protein	BrainSpLMD|8106	OMIM|602279;HPO|8106|Abnormality of the pharynx, Adult onset, Autosomal dominant inheritance, Distal muscle weakness, Dysarthria, Dysphagia, Elevated serum creatine phosphokinase, Facial palsy, Gait disturbance, Limb muscle weakness, Mask-like facies, Myopathy, Neck muscle weakness, Ophthalmoplegia, Progressive, Progressive ptosis, Proximal muscle weakness, Ptosis, Ragged-red muscle fibers, Rimmed vacuoles, Spondylolisthesis
IPC-div1	RHEB	0.482316547	0.000383602	GTPase	BrainSpLMD|6009;Eurexp|euxassay_000326|basioccipital bone, basisphenoid bone, dorsal root ganglion, midbrain, nucleus pulposus, olfactory lobe, otic capsule, ventricular layer;BrainSpMouseDev|19507	OMIM|601293
IPC-div1	LRRC8A	0.941310029	0.000386449	Unclassified;Integral membrane protein	BrainSpLMD|56262	OMIM|608360;HPO|56262|Agammaglobulinemia, Arthritis, Autosomal dominant inheritance, Chronic otitis media, Conjunctivitis, Cough, Diarrhea, Epicanthus, Failure to thrive, Fatigue, Fever, High palate, Hypertelorism, Immunodeficiency, Low-set ears, Osteomyelitis, Recurrent respiratory infections, Recurrent skin infections, Sinusitis, Skin rash
IPC-div1	C2orf69	0.329893676	0.000396463	Unclassified	BrainSpLMD|205327;Eurexp|euxassay_007579|mandible, maxilla, orbito-sphenoid	
IPC-div1	USP11	0.294664061	0.000397305	Ubiquitin proteasome system protein	BrainSpLMD|8237;Eurexp|euxassay_015355|brain, dorsal root ganglion, spinal cord	OMIM|300050
IPC-div1	ZAK	0.780497886	0.000398639			
IPC-div1	LINC01158	0.378927579	0.000400199			
IPC-div1	ANKRD32	0.550056284	0.000404694			
IPC-div1	TUBB6	0.817201699	0.000405756	Cytoskeletal protein	BrainSpLMD|84617;Eurexp|euxassay_015347|cervical, cervico-thoracic, cochlear component, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, inferior, medulla oblongata, metencephalon, midbrain, neural retina, nucleus pulposus, olfactory, spinal cord, stroma, superior, telencephalon, thoracic, tongue, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII	OMIM|615103
IPC-div1	CNR1	0.397036665	0.000405802	G protein coupled receptor	BrainSpLMD|1268;BrainSpMouseDev|12584	SFARI||Autism, 3 - Suggestive evidence;OMIM|114610
IPC-div1	PHGDH	1.226519764	0.000406873	Enzyme: Dehydrogenase	BrainSpLMD|26227	OMIM|606879;HPO|26227|Ablepharon, Abnormality of the philtrum, Absent eyelashes, Absent septum pellucidum, Adducted thumb, Agenesis of corpus callosum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Bifid uterus, Broad foot, Calcaneovalgus deformity, Camptodactyly, Cataract, Cerebellar hypoplasia, Cerebral dysmyelination, Choroid plexus cyst, Cleft palate, Cleft upper lip, Clinodactyly, Congenital cataract, Congenital microcephaly, Cryptorchidism, Dandy-Walker malformation, Decreased fetal movement, Decreased testicular size, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Finger syndactyly, Generalized edema, Growth delay, Hydranencephaly, Hypertelorism, Hypogonadism, Hypsarrhythmia, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Lack of skin elasticity, Large hands, Lissencephaly, Macrogyria, Macrotia, Megaloblastic anemia, Microcephaly, Micrognathia, Micromelia, Microphthalmia, Muscle cramps, Muscular dystrophy, Nystagmus, Opisthotonus, Pachygyria, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Polymicrogyria, Proptosis, Pterygium, Pulmonary hypoplasia, Radial deviation of finger, Renal agenesis, Rocker bottom foot, Seizures, Short neck, Short umbilical cord, Skeletal muscle atrophy, Sloping forehead, Small placenta, Spastic tetraplegia, Spina bifida, Stillbirth, Thick lower lip vermilion, Thick vermilion border, Thrombocytopenia, Toe syndactyly, Transposition of the great arteries, Trismus, Ventricular septal defect, Yellow subcutaneous tissue covered by thin, scaly skin
IPC-div1	MASTL	0.878634817	0.00041093	Unclassified	BrainSpLMD|84930;Eurexp|euxassay_000091|liver, otic capsule, thymus primordium, tooth	OMIM|608221;HPO|84930|Autosomal dominant inheritance, Bruising susceptibility, Thrombocytopenia
IPC-div1	HNRNPUL1	0.700631945	0.000418329	RNA binding protein	BrainSpLMD|11100	OMIM|605800
IPC-div1	PSMD14	0.481001235	0.000431772	Ubiquitin proteasome system protein	BrainSpLMD|10213	OMIM|607173
IPC-div1	ANP32A	0.310900503	0.000433107	MHC complex protein	BrainSpLMD|8125;Eurexp|euxassay_005670|embryo	OMIM|600832
IPC-div1	CEP78	0.458146364	0.000435383	Unclassified		OMIM|617110;HPO|84131|Abnormal electroretinogram, Abnormality of cochlea, Astigmatism, Ataxia, Autosomal recessive inheritance, Cataract, Hemianopia, High-grade hypermetropia, Iris hypopigmentation, Macular degeneration, Nyctalopia, Nystagmus, Photophobia, Scotoma, Sensorineural hearing impairment, Vestibular hypofunction, Visual loss
IPC-div1	HIST1H1A	1.653179335	0.000441228	DNA binding protein	BrainSpLMD|3024	OMIM|142709
IPC-div1	VEZF1	0.585249119	0.00046513	Transcription factor	BrainSpLMD|7716	OMIM|606747
IPC-div1	RBMXP2	0.861643531	0.00046529			
IPC-div1	STON2	0.576061095	0.000478572	Unclassified	BrainSpLMD|85439	OMIM|608467
IPC-div1	CAMSAP1	0.270367437	0.00048987	Unclassified	BrainSpLMD|157922	OMIM|613774
IPC-div1	ENOSF1	1.297254606	0.000493946	Enzyme: Ligase	BrainSpLMD|55556	OMIM|607427
IPC-div1	PSPC1	0.692653974	0.000504105	RNA binding protein	BrainSpLMD|55269;Eurexp|euxassay_006824|embryo	OMIM|612408
IPC-div1	DCTN3	0.640802581	0.000505549	Cell cycle control protein	BrainSpLMD|11258	OMIM|607387
IPC-div1	SMS	0.572625632	0.00051038	Enzyme: Synthase	Eurexp|euxassay_011541|cervical, cervico-thoracic, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, incisor, left lung, mantle layer, metanephros, molar, neural retina, right lung, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|300105;HPO|6611|Abnormality of the pinna, Bifid uvula, Broad-based gait, Cleft palate, Cryptorchidism, Decreased muscle mass, Dental crowding, Dysarthria, Facial asymmetry, Generalized hypotonia, High, narrow palate, Hyperextensibility of the finger joints, Hypertelorism, Intellectual disability, Kyphoscoliosis, Long fingers, Long hallux, Long palm, Mandibular prognathia, Narrow palm, Nasal speech, Osteoporosis, Pectus carinatum, Pectus excavatum, Phenotypic variability, Recurrent fractures, Seizures, Severe Myopia, Short philtrum, Short stature, Talipes equinovarus, Tall stature, Thick lower lip vermilion, Webbed neck, Wide intermamillary distance, X-linked recessive inheritance
IPC-div1	ODF2	1.312284742	0.000511532	Motor protein	BrainSpLMD|4957	OMIM|602015
IPC-div1	PTPRE	1.08934092	0.00051672	Receptor tyrosine phosphatase	BrainSpLMD|5791	OMIM|600926
IPC-div1	RPL7AP6	1.057911556	0.000523582			
IPC-div1	OSBPL8	0.309401588	0.000529643	Transport/cargo protein	BrainSpLMD|114882;Eurexp|euxassay_014229|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, trigeminal V, ventricle, vestibulocochlear VIII	OMIM|606736
IPC-div1	USP47	0.390137777	0.000539395	Ubiquitin proteasome system protein	BrainSpLMD|55031	OMIM|614460
IPC-div1	MBNL1	0.663213442	0.000539932	RNA binding protein	BrainSpLMD|4154	OMIM|606516
IPC-div1	ASXL1	1.080825014	0.000541388	Transcription regulatory protein	BrainSpLMD|171023	OMIM|612990;COSMIC||MDS, CMML, Bohring-Opitz syndrome;HPO|171023|Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Abnormality of the optic nerve, Abnormality of the pancreas, Accessory oral frenulum, Agenesis of corpus callosum, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Biparietal narrowing, Broad alveolar ridges, Broad palm, Camptodactyly, Camptodactyly of finger, Cerebral cortical atrophy, Cleft palate, Cleft upper lip, Convex nasal ridge, Dandy-Walker malformation, Death in infancy, Deep palmar crease, Deep plantar creases, Delayed peripheral myelination, Dislocated radial head, Elbow dislocation, Facial hemangioma, Failure to thrive, Feeding difficulties, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Heterotopia, Hirsutism, Hyperechogenic pancreas, Hypertelorism, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, profound, Intellectual disability, severe, Intestinal malrotation, Intrauterine growth retardation, Limitation of joint mobility, Long face, Low anterior hairline, Low-set ears, Mesomelic/rhizomelic limb shortening, Microcephaly, Micrognathia, Myelodysplasia, Myopia, Narrow chest, Narrow forehead, Narrow palate, Nevus flammeus, Nevus flammeus of the forehead, Overlapping toe, Platyspondyly, Polyhydramnios, Posteriorly rotated ears, Prominent forehead, Prominent metopic ridge, Proptosis, Retinopathy, Retrognathia, Sacral dimple, Seizures, Short thorax, Short toe, Somatic mutation, Strabismus, Supernumerary nipple, Syndactyly, Synophrys, Tapered finger, Thick hair, Trigonocephaly, Ulnar deviation of finger, Ulnar deviation of the wrist, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Vesicoureteral reflux, Wide intermamillary distance, Wide nasal bridge
IPC-div1	CCP110	0.668150477	0.000552604		BrainSpLMD|9738;Eurexp|euxassay_005409|olfactory	OMIM|609544
IPC-div1	EIF4EP2	0.454326326	0.000561153			
IPC-div1	DESI2	0.934442465	0.000571084	Unclassified	BrainSpLMD|51029	OMIM|614638
IPC-div1	RPL36AL	0.290792925	0.000575048	Ribosomal subunit	BrainSpLMD|6166	OMIM|180469
IPC-div1	UBXN4	0.441126191	0.000582434	Unclassified	BrainSpLMD|23190;Eurexp|euxassay_008244|embryo	OMIM|611216
IPC-div1	CENPM	1.25617551	0.000584669	Unclassified	BrainSpLMD|79019	OMIM|610152
IPC-div1	NDUFC2	0.578081865	0.000598711	Enzyme: Oxidoreductase	BrainSpLMD|4718	OMIM|603845
IPC-div1	PKP4	0.276004966	0.000600987	Cell junction protein	BrainSpLMD|8502	OMIM|604276
IPC-div1	ZMIZ1	0.381949667	0.00064392	Unclassified	BrainSpLMD|57178	OMIM|607159
IPC-div1	LSM4	0.670161228	0.000648286	RNA binding protein	BrainSpLMD|25804	OMIM|607284
IPC-div1	RNU6.957P	0.770305484	0.000654337			
IPC-div1	MCM8	0.748593638	0.000669744	DNA binding protein	BrainSpLMD|84515;Eurexp|euxassay_005154|brain, central nervous system, incisor, lung, metanephros, molar, olfactory, retina, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, tongue, vibrissa	OMIM|608187;HPO|84515|Autosomal recessive inheritance, Azoospermia, Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Hypothyroidism, Premature ovarian insufficiency, Primary amenorrhea
IPC-div1	MIIP	1.401760533	0.00068941	Unclassified	BrainSpLMD|60672	OMIM|608772
IPC-div1	STRBP	0.258630957	0.000691104	RNA binding protein	BrainSpLMD|55342;Eurexp|euxassay_012970|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|611138
IPC-div1	PUM1	0.35914576	0.000709052	RNA binding protein	BrainSpLMD|9698	OMIM|607204
IPC-div1	RHNO1	0.414881461	0.000720025	Unclassified	BrainSpLMD|83695;Eurexp|euxassay_001503|cortex, neural retina, ventricular layer	OMIM|614085
IPC-div1	IDH3G	0.812837433	0.000724908	Enzyme: Dehydrogenase	BrainSpLMD|3421	OMIM|300089
IPC-div1	CCDC150	1.529162805	0.000734249	Cytoskeletal protein	BrainSpLMD|284992	
IPC-div1	MRPS18A	1.305150624	0.00075775	Ribosomal subunit	BrainSpLMD|55168	OMIM|611981
IPC-div1	PTGES3	0.309731573	0.000773064	Chaperone		OMIM|607061
IPC-div1	NUDT1	0.976999097	0.000787509	Enzyme: Hydrolase	BrainSpLMD|4521	OMIM|600312
IPC-div1	TRIM28	0.796319248	0.000787612	Transcription regulatory protein	BrainSpLMD|10155;BrainSpMouseDev|21608	OMIM|601742
IPC-div1	CRB1	0.893206928	0.000792351	Unclassified	BrainSpLMD|23418	OMIM|604210;HPO|23418|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Encephalocele, Esotropia, Glaucoma, Hemiplegia/hemiparesis, High-grade hypermetropia, Hyperinsulinemia, Hypermetropia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Muscular hypotonia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paravenous chorioretinal atrophy, Pendular nystagmus, Photophobia, Progressive night blindness, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe visual impairment, Undetectable electroretinogram, Visual impairment, Vitreoretinal degeneration, Wide nasal bridge
IPC-div1	C3orf58	0.46858341	0.000816652	Unclassified	BrainSpLMD|205428	SFARI||Autism, 4 - Minimal evidence;OMIM|612200
IPC-div1	EFNB2	0.628322253	0.000828855	Membrane bound ligand	BrainSpLMD|1948;Eurexp|euxassay_018950|bladder, incisor, lung, mantle layer, mesenchyme, metanephros, molar, oesophagus, pericardium, submandibular gland primordium, urethra, ventricular layer, vibrissa;BrainSpMouseDev|13420	OMIM|600527
IPC-div1	CEP89	0.408599737	0.000845329	Unclassified	BrainSpLMD|84902	OMIM|615470;COSMIC||Spitzoid tumour
IPC-div1	ZNF100	1.052037166	0.000882009	DNA binding protein	BrainSpLMD|163227	OMIM|603982
IPC-div1	ANP32B	0.528221861	0.00088661	Unclassified	BrainSpLMD|10541;Eurexp|euxassay_006714|embryo	
IPC-div1	MZT2B	0.536877414	0.00089719	Unclassified	BrainSpLMD|80097	OMIM|613450
IPC-div1	HPS4	0.732861632	0.00093702	Unclassified	BrainSpLMD|89781;Eurexp|euxassay_006298|loop, midgut	OMIM|606682;HPO|89781|Abnormal platelet granules, Albinism, Autosomal recessive inheritance, Ocular albinism, Pulmonary fibrosis
IPC-div1	PPM1B	0.968611472	0.000938824	Serine/threonine phosphatase	BrainSpLMD|5495	OMIM|603770;HPO|5495|Cystinuria, Depressed nasal bridge, Failure to thrive, Frontal bossing, Global developmental delay, Growth delay, Hypocalcemia, Hypogonadism, Intellectual disability, moderate, Lactic acidosis, Long eyelashes, Low-set, posteriorly rotated ears, Mitochondrial respiratory chain defects, Muscular hypotonia, Nasal speech, Nephrolithiasis, Seizures
IPC-div1	TOP1	0.433063636	0.000949491	Enzyme: Topoisomerase	BrainSpLMD|7150;BrainSpMouseDev|21726	SFARI||Autism, 5 - Hypothesized but untested;OMIM|126420;COSMIC||AML*
IPC-div1	C19orf53	0.732686947	0.000966574	Unclassified	BrainSpLMD|28974	
IPC-div1	SPATA5	0.722463685	0.000973074	ATPase	BrainSpLMD|166378	OMIM|613940;HPO|166378|Absent speech, Autosomal recessive inheritance, EEG abnormality, Feeding difficulties, Global developmental delay, Intellectual disability, Intellectual disability, severe, Limb hypertonia, Microcephaly, Muscular hypotonia of the trunk, Seizures, Sensorineural hearing impairment, Spasticity
IPC-div1	C16orf80	0.264008278	0.000982816			
IPC-div1	C12orf73	0.834902029	0.000988329	Unclassified		
IPC-div1	MDH1	0.292389057	0.000995316	Enzyme: Dehydrogenase	BrainSpLMD|4190	OMIM|154200
IPC-div1	TEX9	1.191234108	0.001002404	Unclassified	BrainSpLMD|374618	
IPC-div1	FUS	0.303777596	0.001003184	RNA binding protein	BrainSpLMD|2521	OMIM|137070;COSMIC||liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma;HPO|2521|Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Decreased muscle mass, Depressivity, Dysarthria, Dyspnea, EMG abnormality, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Gait disturbance, Generalized muscle weakness, Hyperreflexia, Hyporeflexia, Muscle cramps, Neurodegeneration, Neuronal loss in central nervous system, Pain, Paralysis, Postural tremor, Proximal amyotrophy, Pseudobulbar behavioral symptoms, Respiratory failure, Skeletal muscle atrophy, Spasticity, Subcutaneous nodule, Xerostomia
IPC-div1	CCNG2	0.747151117	0.001015813	Cell cycle control protein	BrainSpLMD|901;Eurexp|euxassay_007291|embryo	OMIM|603203
IPC-div1	TRIM2	0.260378703	0.001020934	Unclassified	BrainSpLMD|23321;Eurexp|euxassay_008433|anterior, bladder, brain, cervical, cervico-thoracic, epithelium, facial VII, glossopharyngeal IX, hindgut, larynx, left lung, lens, mesenchyme, mesentery, metanephros, midgut, naso-lacrimal duct, neural retina, olfactory, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thoracic, trachea, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|614141;HPO|23321|Areflexia, Autosomal recessive inheritance, Broad-based gait, Decreased muscle mass, Decreased number of peripheral myelinated nerve fibers, Generalized hypotonia, Knee flexion contracture, Muscle weakness, Peripheral axonal neuropathy, Pes cavus, Respiratory insufficiency, Talipes equinovarus, Tracheomalacia, Vocal cord paralysis
IPC-div1	TMSB10	0.257064207	0.001042875	Cytoskeletal associated protein	BrainSpLMD|9168	OMIM|188399
IPC-div1	GPC6	0.548016596	0.001052723	Growth factor	BrainSpLMD|10082	SFARI||Autism, 4 - Minimal evidence;OMIM|604404;HPO|10082|Anterolateral radial head dislocation, Atrial septal defect, Autosomal recessive inheritance, Axillary pterygia, Blepharophimosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Fibular hypoplasia, Flat face, Frontal bossing, Hemangioma, Hypoplastic distal humeri, Increased fibular diameter, Limited elbow extension, Limited elbow flexion, Limited elbow flexion/extension, Limited hip movement, Limited knee extension, Limited knee flexion, Limited knee flexion/extension, Long philtrum, Malar flattening, Micrognathia, Popliteal pterygium, Pulmonary artery stenosis, Rhizomelia, Short humerus, Short neck, Short nose, Short tibia, Umbilical hernia, Ventricular septal defect, Wide nasal bridge
IPC-div1	GNG5	0.704308451	0.00105274	G protein	BrainSpLMD|2787;Eurexp|euxassay_007798|embryo	OMIM|600874
IPC-div1	HNRNPA1	0.383602904	0.001074337	RNA binding protein	BrainSpLMD|3178	OMIM|164017;HPO|3178|Abnormality of the abdominal musculature, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dyspnea, Elevated alkaline phosphatase, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Limb-girdle muscular dystrophy, Mildly elevated creatine phosphokinase, Muscle cramps, Muscle fiber inclusion bodies, Muscular dystrophy, Myopathy, Neurodegeneration, Pain, Paralysis, Proximal muscle weakness, Respiratory failure, Rimmed vacuoles, Skeletal muscle atrophy, Spasticity, Xerostomia
IPC-div1	ZNF85	0.742482493	0.001079735	DNA binding protein	BrainSpLMD|7639	OMIM|603899
IPC-div1	HMGB1P1	0.502262538	0.001081522	Transcription regulatory protein		
IPC-div1	TMEM237	0.459444127	0.001111245	Unclassified	BrainSpLMD|65062	OMIM|614423;HPO|65062|Apnea, Ataxia, Autistic behavior, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Coloboma, Dandy-Walker malformation, Deeply set eye, Downslanted palpebral fissures, Encephalocele, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, High forehead, Highly arched eyebrow, Hydrocephalus, Hypertelorism, Hypertension, Intellectual disability, Intellectual disability, severe, Iris coloboma, Irritability, Long face, Low-set ears, Low-set, posteriorly rotated ears, Malar flattening, Microphthalmia, Molar tooth sign on MRI, Morning glory anomaly, Muscular hypotonia, Nephropathy, Nystagmus, Oculomotor apraxia, Open mouth, Postaxial polydactyly, Posteriorly rotated ears, Prominent nasal bridge, Ptosis, Renal cyst, Retinal dystrophy, Short philtrum, Strabismus, Tachypnea, Tented upper lip vermilion
IPC-div1	VBP1	0.362149809	0.001139934	Chaperone	BrainSpLMD|7411	OMIM|300133
IPC-div1	VPS36	0.361155565	0.001157277	Unclassified	BrainSpLMD|51028	OMIM|610903
IPC-div1	SYF2	0.446155667	0.00118477	Unclassified	BrainSpLMD|25949	OMIM|607090
IPC-div1	WDR76	0.253399983	0.001193298	Unclassified	BrainSpLMD|79968	
IPC-div1	DHTKD1	1.15031586	0.001199277	Enzyme: Oxidoreductase	BrainSpLMD|55526	OMIM|614984;HPO|55526|Aminoaciduria, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Delayed speech and language development, Difficulty walking, Generalized hypotonia, Global developmental delay, Intellectual disability, mild, Microcephaly, Phenotypic variability, Skeletal muscle atrophy
IPC-div1	CHCHD7	0.575197592	0.001201914	Unclassified	BrainSpLMD|79145	OMIM|611238;COSMIC||salivary adenoma
IPC-div1	BRIP1	1.285514978	0.00120983	DNA helicase	BrainSpLMD|83990;Eurexp|euxassay_013686|cochlea, marginal layer, ventricular layer	OMIM|605882;COSMIC||AML, leukaemia, breast;HPO|83990|Abnormality of chromosome stability, Abnormality of the fallopian tube, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone marrow hypocellularity, Breast carcinoma, Chromosomal breakage induced by crosslinking agents, Esophageal atresia, Global developmental delay, Heterogeneous, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Ovarian neoplasm, Postnatal growth retardation, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
IPC-div1	FSTL1	0.443547657	0.001216279	Protease inhibitor	Eurexp|euxassay_003685|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail;BrainSpMouseDev|14090	OMIM|605547
IPC-div1	RAB8A	0.622813753	0.001234214	GTPase	BrainSpLMD|4218	OMIM|165040
IPC-div1	DHX15	0.348815613	0.001241529	RNA binding protein	BrainSpLMD|1665	OMIM|603403
IPC-div1	H2AFZP3	0.407516958	0.001252906			
IPC-div1	POLR2D	0.319615205	0.0012575	RNA polymerase	BrainSpLMD|5433	OMIM|606017
IPC-div1	UBE2Q2P2	0.476325912	0.001271814			
IPC-div1	INIP	0.462854234	0.001307478	Unclassified	BrainSpLMD|58493;Eurexp|euxassay_015774|excretory component, incisor, molar, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|613273
IPC-div1	TSHZ1	0.376211157	0.001315855	Transcription regulatory protein	BrainSpLMD|10194;Eurexp|euxassay_010168|interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, mesenchyme, midgut, olfactory, penis, pharyngo-tympanic tube, stomach;BrainSpMouseDev|74951	OMIM|614427;HPO|10194|Atresia of the external auditory canal, Autosomal dominant inheritance, Conductive hearing impairment, Hyposmia
IPC-div1	TAGLN2	0.955656203	0.001324264	Unclassified	BrainSpLMD|8407;Eurexp|euxassay_001884|ventricular layer;BrainSpMouseDev|21107	OMIM|604634
IPC-div1	RNASEH2A	0.860320777	0.001324425	Ribonuclease	BrainSpLMD|10535	OMIM|606034;HPO|10535|Arrhinencephaly, Autosomal recessive inheritance, CSF lymphocytic pleiocytosis, Cerebellar atrophy, Cerebral atrophy, Cerebral calcification, Cleft eyelid, Convex nasal ridge, Death in childhood, Dystonia, Elevated hepatic transaminases, Feeding difficulties, Hemiplegia/hemiparesis, Hepatomegaly, Hepatosplenomegaly, Hydrocephalus, Infantile onset, Intellectual disability, profound, Intrauterine growth retardation, Leukodystrophy, Low-set ears, Pancytopenia, Porencephalic cyst, Progressive microcephaly, Severe global developmental delay, Spasticity, Splenomegaly, Thrombocytopenia, Ventriculomegaly
IPC-div1	SLCO5A1	0.452832977	0.001326046	Membrane transport protein	BrainSpLMD|81796;Eurexp|euxassay_019698|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, pericardium, trigeminal V, vestibulocochlear VIII	OMIM|613543
IPC-div1	POLR2C	0.71555881	0.001352865	Transcription regulatory protein	BrainSpLMD|5432	OMIM|180663
IPC-div1	MIDN	0.257236737	0.001357717	Unclassified		OMIM|606700
IPC-div1	SASS6	1.952251541	0.001420623	Unclassified	BrainSpLMD|163786;Eurexp|euxassay_004943|retina, ventricular layer	OMIM|609321;HPO|163786|Abnormal cortical bone morphology, Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Pachygyria, Poor speech, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
IPC-div1	NFYA	0.688165068	0.00144612	Transcription factor	BrainSpLMD|4800;BrainSpMouseDev|17811	OMIM|189903
IPC-div1	NDUFAF3	0.766414596	0.001465318	Unclassified	BrainSpLMD|25915;Eurexp|euxassay_006731|olfactory	OMIM|612911;HPO|25915|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
IPC-div1	ROBO2	0.261084896	0.001471977	Cell surface receptor	BrainSpMouseDev|92611	SFARI||Autism, 3 - Suggestive evidence;OMIM|602431;COSMIC||colorectal adenocarcinoma, melanoma;HPO|6092|Autosomal dominant inheritance, Renal hypoplasia, Vesicoureteral reflux
IPC-div1	GPD2	1.423785623	0.001516904	Enzyme: Dehydrogenase	BrainSpLMD|2820;Eurexp|euxassay_018668|nucleus pulposus, submandibular gland primordium	SFARI||Autism, No category;OMIM|138430
IPC-div1	STK35	0.499647197	0.001538145	Serine/threonine kinase	BrainSpLMD|140901;Eurexp|euxassay_012066|Meckel's cartilage, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, otic capsule, pelvic girdle, scapula, temporal bone, tibia, turbinate	OMIM|609370
IPC-div1	BLM	1.082878343	0.001558455	DNA binding protein	BrainSpLMD|641	OMIM|604610;COSMIC||leukaemia, lymphoma, skin squamous cell, other tumour types;HPO|641|Abnormality of chromosome stability, Agenesis of maxillary lateral incisor, Autosomal recessive inheritance, Azoospermia, Bronchiectasis, Cafe-au-lait spot, Chromosome breakage, Chronic lung disease, Clinodactyly of the 5th finger, Cryptorchidism, Cutaneous photosensitivity, Decreased fertility in females, Delayed skeletal maturation, Diarrhea, Dolichocephaly, Erythema, Facial telangiectasia in butterfly midface distribution, Hand polydactyly, High pitched voice, Hypertrichosis, Hypoplasia of the zygomatic bone, IgA deficiency, IgG deficiency, IgM deficiency, Intrauterine growth retardation, Leukemia, Lymphoma, Malar flattening, Microcephaly, Narrow face, Postnatal growth retardation, Prominent nose, Protruding ear, Recurrent respiratory infections, Short nose, Short stature, Sinusitis, Specific learning disability, Spotty hyperpigmentation, Spotty hypopigmentation, Squamous cell carcinoma, Syndactyly, Type II diabetes mellitus
IPC-div1	RNF4	0.854655953	0.00165516	Transcription regulatory protein	BrainSpLMD|6047	OMIM|602850
IPC-div1	HDAC6	1.158110074	0.001672828	Enzyme: Deacetylase	BrainSpLMD|10013;Eurexp|euxassay_013594|cortex, left lung, marginal layer, pancreas, right lung, thyroid;BrainSpMouseDev|14961	SFARI||Autism, No category;OMIM|300272;HPO|10013|Abnormality of the calcaneus, Death in infancy, Decreased skull ossification, Depressed nasal ridge, Distal shortening of limbs, Frontal bossing, Hydrocephalus, Hypoplasia of the calcaneus, Hypoplastic iliac wing, Intellectual disability, mild, Intrauterine growth retardation, Low-set ears, Macrocephaly, Metaphyseal chondrodysplasia, Metaphyseal cupping of metacarpals, Metaphyseal cupping of proximal phalanges, Microphthalmia, Platyspondyly, Rhizomelia, Short foot, Short nose, Short palm, Short stature, Thin ribs, X-linked dominant inheritance
IPC-div1	RNF114	0.519991029	0.001688639	Ubiquitin proteasome system protein	BrainSpLMD|55905	OMIM|612451
IPC-div1	SRRT	0.944891242	0.001722662	Unclassified	BrainSpLMD|51593	OMIM|614469
IPC-div1	NOVA1	0.361774187	0.001770527	RNA binding protein	BrainSpLMD|4857	OMIM|602157
IPC-div1	G3BP1	0.570250591	0.001774678	RNA binding protein;Ribonuclease	BrainSpLMD|10146	OMIM|608431
IPC-div1	CFL1	0.636486888	0.001780364	Cytoskeletal associated protein	BrainSpLMD|1072	OMIM|601442
IPC-div1	TMEM19	0.446189189	0.001798302	Integral membrane protein	BrainSpLMD|55266	
IPC-div1	KCTD3	0.780784507	0.001825612	Ion channel	BrainSpLMD|51133	OMIM|613272
IPC-div1	CCDC152	0.392762984	0.001846561	Unclassified		
IPC-div1	ANAPC15	0.952026533	0.001856032	Unclassified	BrainSpLMD|25906	OMIM|614717
IPC-div1	EIF3G	0.772543415	0.001897014	Translation regulatory protein	BrainSpLMD|8666	SFARI||Autism, 4 - Minimal evidence;OMIM|603913
IPC-div1	RP11.436K8.1	0.990111054	0.001899068			
IPC-div1	STK17A	1.348564948	0.001915535	Serine/threonine kinase	BrainSpLMD|9263	OMIM|604726
IPC-div1	MIR6723	0.96791502	0.001930839			
IPC-div1	CENPQ	0.40373454	0.001940839	Unclassified	BrainSpLMD|55166	OMIM|611506
IPC-div1	FANCM	0.299692363	0.001942489	ATPase;Enzyme: Translocase	BrainSpLMD|57697;Eurexp|euxassay_008121|lung, mandible, petrous part	OMIM|609644;HPO|57697|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Esophageal atresia, Global developmental delay, Growth delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
IPC-div1	ID4	0.747038134	0.001949462	Transcription regulatory protein	BrainSpLMD|3400;BrainSpMouseDev|15677	OMIM|600581
IPC-div1	ZNF714	0.453752835	0.001980447	DNA binding protein	BrainSpLMD|148206	
IPC-div1	ANKRD10.IT1	0.442677422	0.00201556			
IPC-div1	EMX2	1.004975218	0.002081395	Transcription factor	BrainSpLMD|2018;Eurexp|euxassay_019479|eyelid, lip, mantle layer, metanephros, olfactory, paramesonephric duct, phalanx, saccule, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|13575	OMIM|600035;HPO|2018|Schizencephaly
IPC-div1	HIRIP3	0.906613252	0.002082378	Unclassified	BrainSpLMD|8479	OMIM|603365
IPC-div1	CPEB2	1.25494204	0.002106993	RNA binding protein	BrainSpLMD|132864	OMIM|610605
IPC-div1	CALU	0.31840542	0.002118465	Calcium binding protein	BrainSpLMD|813	OMIM|603420
IPC-div1	SERF2	0.338675859	0.002118719	RNA binding protein	BrainSpLMD|10169;Eurexp|euxassay_007238|cranium	OMIM|605054
IPC-div1	HN1L	0.823702283	0.002145688			
IPC-div1	SNRPB	0.988155226	0.002174945	RNA binding protein	BrainSpLMD|6628	OMIM|182282;HPO|6628|11 pairs of ribs, Abnormality of the dentition, Anomalous rib insertion to vertebrae, Anomalous tracheal cartilage, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Calcaneal epiphyseal stippling, Cleft palate, Cleft soft palate, Clinodactyly of the 5th finger, Conductive hearing impairment, Congenital hip dislocation, Death in infancy, Ectopic kidney, Elbow flexion contracture, Epicanthus, Feeding difficulties, Gastroesophageal reflux, Glossoptosis, High palate, Horseshoe kidney, Intellectual disability, Intrauterine growth retardation, Kyphosis, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Nasal speech, Neonatal respiratory distress, Patent ductus arteriosus, Polyhydramnios, Porencephalic cyst, Posterior rib gap, Posteriorly rotated ears, Postnatal growth retardation, Renal cyst, Scoliosis, Short hard palate, Short humerus, Short stature, Thoracic hypoplasia, Tracheomalacia, Ventricular septal defect, Webbed neck
IPC-div1	OSER1.AS1	1.067184672	0.002175313			
IPC-div1	PPP4R2	0.2754269	0.002181793	Serine/threonine phosphatase	BrainSpLMD|151987	OMIM|613822
IPC-div1	CLMP	0.976601514	0.002195804		BrainSpLMD|79827;Eurexp|euxassay_001798|mantle layer, marginal layer	OMIM|611693;HPO|79827|Abnormal peristalsis, Autosomal recessive inheritance, Chronic diarrhea, Cognitive impairment, Congenital shortened small intestine, Decreased intestinal transit time, Failure to thrive, Hypotrichosis, Intestinal hypoplasia, Intestinal malrotation, Lipoatrophy, Short stature, Steatorrhea
IPC-div1	ADRM1	0.80042895	0.002205975	Adhesion molecule;Cell surface receptor	BrainSpLMD|11047;Eurexp|euxassay_011943|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|610650
IPC-div1	ZNF24	0.875784505	0.002211791	Transcription regulatory protein	BrainSpLMD|7572;BrainSpMouseDev|37620	OMIM|194534
IPC-div1	TBC1D1	1.254250242	0.002218704	Unclassified	BrainSpLMD|23216	OMIM|609850
IPC-div1	RNF24	0.273915215	0.002226259	Transcription factor	BrainSpLMD|11237	OMIM|612489
IPC-div1	PHLPP1	0.416501691	0.00223359	Unclassified	BrainSpLMD|23239;Eurexp|euxassay_010722|ventricular layer	OMIM|609396
IPC-div1	ELMO1	0.466753253	0.002242523	Unclassified;Motor protein	BrainSpLMD|9844;Eurexp|euxassay_012546|floor plate, floorplate, mantle layer, marginal layer, vibrissa	OMIM|606420
IPC-div1	GNG4	1.087381288	0.002248438	G protein	BrainSpLMD|2786	OMIM|604388
IPC-div1	SUGP2	0.379978527	0.002250407	RNA binding protein	BrainSpLMD|10147;Eurexp|euxassay_009811|mandible, maxilla, orbito-sphenoid, rib	OMIM|607993
IPC-div1	LCLAT1	0.507163943	0.002251583	Enzyme: Acyltransferase	BrainSpLMD|253558	OMIM|614241
IPC-div1	SPATA13	0.858053053	0.002253611	Unclassified	BrainSpLMD|221178;Eurexp|euxassay_009443|ventricular layer	OMIM|613324
IPC-div1	CEP128	0.700734017	0.002352957	Unclassified	BrainSpLMD|145508	
IPC-div1	LSM12	0.373487932	0.002401839	Unclassified		OMIM|611793
IPC-div1	MPPED2	0.613692532	0.002412112	Enzyme: Hydrolase	BrainSpLMD|744;Eurexp|euxassay_014223|axial skeleton, head mesenchyme, rib, thyroid, ventricular layer	OMIM|600911
IPC-div1	CALM2P3	0.456737222	0.002417868			
IPC-div1	SRR	0.253692081	0.002459862	Enzyme: Racemase	BrainSpLMD|63826	OMIM|606477
IPC-div1	SPCS2P4	0.405652424	0.002460002			
IPC-div1	PFDN1	0.361648754	0.00247796	Chaperone	BrainSpLMD|5201	OMIM|604897
IPC-div1	COA1	0.355457398	0.002491167	Unclassified	BrainSpLMD|55744	OMIM|614769
IPC-div1	NARF	0.380157395	0.002498552	Unclassified	BrainSpLMD|26502;Eurexp|euxassay_013636|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, lobe, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|605349
IPC-div1	SGTB	0.452880546	0.002500873	Unclassified	BrainSpLMD|54557;Eurexp|euxassay_015692|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	
IPC-div1	NDUFB3	0.357226676	0.002505889	Enzyme: Oxidoreductase	BrainSpLMD|4709	OMIM|603839;HPO|4709|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
IPC-div1	KCTD9	1.007883163	0.002538662	Ion channel	BrainSpLMD|54793;BrainSpMouseDev|69605	OMIM|617265
IPC-div1	LMO7	0.632380174	0.002589189	Transcription regulatory protein	BrainSpLMD|4008	OMIM|604362
IPC-div1	TAF8	1.239637177	0.002592023	Transcription factor	BrainSpLMD|129685	OMIM|609514
IPC-div1	TMEM183A	0.554416257	0.00259576	Unclassified	BrainSpLMD|92703	
IPC-div1	EBP	0.42541401	0.002613448	Enzyme: Isomerase	BrainSpLMD|10682;Eurexp|euxassay_010690|lobe, mandible, maxilla, orbito-sphenoid	OMIM|300205;HPO|10682|2-3 toe syndactyly, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the pinna, Abnormality of the thorax, Alopecia, Aortic valve stenosis, Bilateral talipes equinovarus, Cataract, Concave nasal ridge, Congenital ichthyosiform erythroderma, Congenital onset, Cryptorchidism, Dandy-Walker malformation, Downslanted palpebral fissures, Edema, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol, Epicanthus, Epiphyseal stippling, Erythema, Erythroderma, Failure to thrive, Flat face, Frontal bossing, Generalized hypotonia, Glaucoma, Global developmental delay, Hearing impairment, Hemiatrophy, Hemivertebrae, High palate, Hydrocephalus, Hydronephrosis, Hyperactivity, Ichthyosis, Intellectual disability, Intellectual disability, moderate, Joint dislocation, Kyphosis, Long fingers, Low-set ears, Malar flattening, Microphthalmia, Microretrognathia, Midface retrusion, Nystagmus, Optic atrophy, Overlapping fingers, Overlapping toe, Patellar dislocation, Phenotypic variability, Polydactyly, Polyhydramnios, Postnatal growth retardation, Prominent nasal bridge, Ptosis, Punctate vertebral calcifications, Scarring alopecia of scalp, Scoliosis, Seizures, Short neck, Short stature, Sparse and thin eyebrow, Sparse eyelashes, Stippled calcification in carpal bones, Tarsal stippling, Tracheal calcification, Tracheal stenosis, Variable expressivity, X-linked dominant inheritance, X-linked recessive inheritance
IPC-div1	TACC1	0.490748901	0.002661729	Cell cycle control protein	BrainSpLMD|6867	OMIM|605301
IPC-div1	UNC5D	0.272802783	0.002663568	Unclassified	BrainSpLMD|137970;Eurexp|euxassay_012466|basal plate, clavicle, incisor, lip, mantle layer, molar, palatal shelf, respiratory, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|84240	OMIM|616466
IPC-div1	CHAF1A	0.923024929	0.002665995	Chaperone	BrainSpLMD|10036	OMIM|601246
IPC-div1	HNRNPL	0.434354522	0.002666611	Ribonucleoprotein	BrainSpLMD|3191	OMIM|603083
IPC-div1	MIR133A1HG	0.453722315	0.002666679			
IPC-div1	AACS	0.566704826	0.002690717	Enzyme: Ligase	BrainSpLMD|65985;Eurexp|euxassay_005036|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, stroma, thymus primordium, trigeminal V, vagus X	OMIM|614364
IPC-div1	NFIC	0.733118436	0.002717614	Transcription factor	BrainSpLMD|4782;Eurexp|euxassay_008959|mesenchyme;BrainSpMouseDev|17796	OMIM|600729
IPC-div1	SSNA1	0.714570651	0.002778606	Unclassified	BrainSpLMD|8636	OMIM|610882
IPC-div1	ZC3H7B	0.965916209	0.002868294	Translation regulatory protein	BrainSpLMD|23264	
IPC-div1	KIAA1191	0.318807945	0.002895059	Unclassified	BrainSpLMD|57179;Eurexp|euxassay_011470|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	
IPC-div1	ELAVL3	0.745273439	0.002930504	RNA binding protein	BrainSpLMD|1995	SFARI||Autism, 3 - Suggestive evidence;OMIM|603458
IPC-div1	TRIAP1	0.488910324	0.002937528	Protease inhibitor	BrainSpLMD|51499	OMIM|614943
IPC-div1	ZNF682	0.91365224	0.00295988	Transcription regulatory protein	BrainSpLMD|91120	
IPC-div1	PER2	0.347895279	0.003003546	DNA binding protein	BrainSpLMD|8864;Eurexp|euxassay_019474|adrenal gland, larynx, lung, metanephros, olfactory, pancreas, rectum, stomach, testis, thyroid, trachea, urethra, ventricular layer;BrainSpMouseDev|18393	SFARI||Autism, 3 - Suggestive evidence;OMIM|603426;HPO|8864|Autosomal dominant inheritance, Depressivity, Sleep-wake cycle disturbance
IPC-div1	LPPR4	0.547358265	0.003014263			
IPC-div1	CCDC167	0.558805496	0.003014934	Unclassified		
IPC-div1	ANKRD40	0.55578082	0.003027776	Unclassified	BrainSpLMD|91369	
IPC-div1	HIST1H1D	0.901926927	0.003042287	DNA binding protein	BrainSpLMD|3007;Eurexp|euxassay_000515|marginal layer, ventricular layer	OMIM|142210
IPC-div1	MRPL47	0.667850368	0.003072251	Ribosomal subunit	BrainSpLMD|57129	OMIM|611852
IPC-div1	ARL16	1.284263367	0.00311366	GTPase		
IPC-div1	SPCS2	0.480845062	0.003135092	Protease		
IPC-div1	ATCAY	0.596744111	0.003144062	Integral membrane protein	BrainSpLMD|85300;Eurexp|euxassay_004136|brain, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, midgut, neural retina, olfactory, spinal cord, stomach, telencephalon, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608179;HPO|85300|Autosomal recessive inheritance, Broad-based gait, Dysarthria, Gait ataxia, Generalized hypotonia, Global developmental delay, Intention tremor, Nystagmus
IPC-div1	CLIC4	0.680466198	0.003148873	Intracellular ligand gated channel	BrainSpLMD|25932	OMIM|606536
IPC-div1	SNX6	0.329999863	0.003159789	Transport/cargo protein	BrainSpLMD|58533	OMIM|606098
IPC-div1	GADD45G	1.780704534	0.003165558	Cell cycle control protein	BrainSpLMD|10912;Eurexp|euxassay_018024|4th ventricle, ventricular layer	OMIM|604949
IPC-div1	MYC	0.985701546	0.003175784	Transcription factor	BrainSpLMD|4609;Eurexp|euxassay_018236|anterior, axial muscle, clavicle, corpus striatum, cortex, external, frontal bone primordium, mandible, marginal layer, maxilla, midgut, nasal septum, orbito-sphenoid, palatal shelf, pancreas, parietal bone, submandibular gland primordium, thymus primordium, vibrissa;BrainSpMouseDev|17636	OMIM|190080;COSMIC||Burkitt lymphoma, amplified in other cancers, B-CLL;HPO|4609|Abnormal lactate dehydrogenase activity, Burkitt lymphoma, Hyperuricemia, Neoplasm of the oral cavity, Sporadic
IPC-div1	HMGCR	0.737819675	0.003251207	Enzyme: Reductase	BrainSpLMD|3156;Eurexp|euxassay_004330|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nucleus pulposus, spinal cord, thoracic, trigeminal V, vagus X	OMIM|142910
IPC-div1	SMARCD1	0.270075103	0.003272578	Transcription regulatory protein	BrainSpLMD|6602	OMIM|601735;COSMIC||breast
IPC-div1	MCRS1	0.939237455	0.003305571	Translation regulatory protein	BrainSpLMD|10445	OMIM|609504
IPC-div1	MDH2	0.544364686	0.003349015	Enzyme: Dehydrogenase	BrainSpLMD|4191;BrainSpMouseDev|17216	OMIM|154100;HPO|4191|Absent speech, Autosomal recessive inheritance, Cerebellar atrophy, Constipation, Delayed myelination, Epileptic encephalopathy, Failure to thrive, Feeding difficulties, Global developmental delay, Hypoplasia of the corpus callosum, Inability to walk, Increased CSF lactate, Increased serum lactate, Poor head control, Seizures, Skeletal muscle atrophy, Strabismus
IPC-div1	KIAA1958	0.586604734	0.00336104	Unclassified	Eurexp|euxassay_000143|neural retina	OMIM|617390
IPC-div1	CHRDL1	0.959464116	0.003365657	Secreted polypeptide	BrainSpLMD|91851	OMIM|300350
IPC-div1	TTLL5	0.414710212	0.003385953	Unclassified	BrainSpLMD|23093;Eurexp|euxassay_012593|choroid invagination, choroid plexus, roof plate	OMIM|612268;HPO|23093|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal recessive inheritance, Cone/cone-rod dystrophy, Nyctalopia, Photophobia
IPC-div1	PKM	0.31559608	0.003442135	Enzyme: Phosphotransferase	BrainSpLMD|5315	OMIM|179050
IPC-div1	KLHL9	0.39183392	0.003533202	Cytoskeletal associated protein	BrainSpLMD|55958;Eurexp|euxassay_012859|mantle layer, neural retina, ventral grey horn	OMIM|611201
IPC-div1	BEND3	0.772970649	0.003590407	Unclassified		OMIM|616374
IPC-div1	DDX6	0.26926328	0.003595916	RNA binding protein	BrainSpLMD|1656	OMIM|600326;COSMIC||B-NHL
IPC-div1	FBLN1	0.345558765	0.003659516	Extracellular matrix protein	BrainSpLMD|2192;Eurexp|euxassay_011935|bladder, meninges, mesenchyme, midgut, nasal cavity, stomach, valve	OMIM|135820;HPO|2192|Autosomal dominant inheritance, Carpal synostosis, Metacarpal synostosis, Metatarsal synostosis, Polydactyly, Tarsal synostosis, Toe syndactyly
IPC-div1	NAA38	0.746746918	0.003678132	Unclassified	BrainSpLMD|84316	
IPC-div1	TUBG1	1.272078786	0.003721074	Cytoskeletal protein	BrainSpLMD|7283	OMIM|191135;HPO|7283|Autosomal dominant inheritance, Cortical dysplasia, Global developmental delay, Microcephaly, Seizures, Variable expressivity
IPC-div1	ELP4	0.932600921	0.003761818	Enzyme: Acyltransferase	BrainSpLMD|26610	SFARI||Autism, 3 - Suggestive evidence;OMIM|606985;HPO|26610|Aniridia, Autosomal dominant inheritance, Cataract, Glaucoma, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Nystagmus, Opacification of the corneal stroma, Optic nerve hypoplasia
IPC-div1	ZBTB18	0.26678512	0.003763047	Transcription regulatory protein	BrainSpLMD|10472	OMIM|608433;HPO|10472|Abnormality of the pinna, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Depressed nasal bridge, Epicanthus, Generalized hypotonia, Global developmental delay, Hypertelorism, Intellectual disability, Low-set ears, Microcephaly, Micrognathia, Prominent forehead, Round face, Seizures, Short stature, Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Variable expressivity
IPC-div1	EML1	0.933623249	0.003787131	Structural protein	BrainSpLMD|2009	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602033;HPO|2009|Agenesis of corpus callosum, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Intellectual disability, severe, Macrocephaly, Polymicrogyria, Seizures, Sleep disturbance, Spasticity
IPC-div1	AMOTL2	0.837338082	0.003801683	Unclassified	BrainSpLMD|51421;Eurexp|euxassay_012626|axial skeleton, ventricular layer	OMIM|614658
IPC-div1	CCNH	0.686797182	0.00384427	Transcription regulatory protein	BrainSpLMD|902;Eurexp|euxassay_000265|cranium	OMIM|601953
IPC-div1	PIH1D1	0.393059773	0.00385485	Unclassified	BrainSpLMD|55011	OMIM|611480
IPC-div1	CWF19L2	0.715900498	0.00388755	Cell cycle control protein	BrainSpLMD|143884	
IPC-div1	STT3B	0.384292775	0.003899755	Integral membrane protein	BrainSpLMD|201595	OMIM|608605;HPO|201595|Abnormal glycosylation, Autosomal recessive inheritance, Cerebellar atrophy, Congenital onset, Cryptorchidism, Death in childhood, Decreased liver function, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Microcephaly, Micropenis, Optic atrophy, Respiratory distress, Scrotal hypoplasia, Seizures, Thrombocytopenia
IPC-div1	STAM	1.166776069	0.003902607	Adapter molecule	BrainSpLMD|8027	OMIM|601899
IPC-div1	METTL10	0.798339422	0.00390968			
IPC-div1	BNIP2	0.263665751	0.003944509	GTPase activating protein	BrainSpLMD|663	OMIM|603292
IPC-div1	TRO	0.696300115	0.003950922	Integral membrane protein	BrainSpLMD|7216	OMIM|300132
IPC-div1	ZNF726	0.730806004	0.003981489			
IPC-div1	PA2G4	0.4119433	0.003988032	Transcription regulatory protein	BrainSpLMD|5036	OMIM|602145
IPC-div1	ABHD2	1.179177514	0.004063519	Enzyme: Hydrolase	BrainSpLMD|11057;Eurexp|euxassay_002585|adrenal gland, choroid plexus, cochlea, dorsal root ganglion, lateral recess, lung, naris, neural retina, olfactory, penis, respiratory, stomach, stroma, submandibular gland primordium, trigeminal V, vestibulocochlear VIII	OMIM|612196
IPC-div1	PAPD7	1.060479325	0.004084715	DNA polymerase	BrainSpLMD|11044;Eurexp|euxassay_002954|basal plate, incisor, submandibular gland primordium, ventricular layer, vibrissa	OMIM|605198
IPC-div1	DCTPP1	1.220598122	0.004101116	Unclassified	BrainSpLMD|79077;Eurexp|euxassay_007838|axial muscle, cortex, incisor, left lung, lumen, mandible, molar, orbito-sphenoid, palatal shelf, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vertebral axis muscle system	OMIM|615840
IPC-div1	SLC25A5	0.378921669	0.004115971	Integral membrane protein		OMIM|300150
IPC-div1	C1D	0.551440043	0.004130462	Transcription regulatory protein		OMIM|606997
IPC-div1	CDON	0.508944703	0.004148574	Cell surface receptor	BrainSpLMD|50937;BrainSpMouseDev|37081	OMIM|608707;HPO|50937|Agenesis of corpus callosum, Autosomal dominant inheritance, Cleft lip, Cleft palate, Delayed puberty, Ectopic posterior pituitary, Failure to thrive, Global developmental delay, Holoprosencephaly, Hypoglycemia, Hypoplasia of penis, Hypotelorism, Hypothyroidism, Microcephaly, Polysplenia, Proptosis, Short stature, Sporadic, Synophrys, Thick eyebrow, Variable expressivity
IPC-div1	LCORL	0.61962627	0.004172949	Transcription factor	BrainSpLMD|254251	OMIM|611799
IPC-div1	EHMT1	0.490238098	0.004192832	Enzyme: Methyltransferase	BrainSpLMD|79813	SFARI||Autism, 3 - Suggestive evidence;OMIM|607001;HPO|79813|Abnormality of the cardiac septa, Abnormality of the pinna, Absence seizures, Aggressive behavior, Anteverted nares, Aphasia, Autism, Autosomal dominant inheritance, Brachycephaly, Brachydactyly, Coarse facial features, Cryptorchidism, Delayed speech and language development, Downturned corners of mouth, Dysphasia, Echolalia, Epileptic spasms, Everted lower lip vermilion, Flat face, Flat occiput, Generalized hypotonia, Global developmental delay, Highly arched eyebrow, Hypertelorism, Hypospadias, Intellectual disability, Intellectual disability, severe, Macroglossia, Malar flattening, Mandibular prognathia, Microcephaly, Micropenis, Midface retrusion, Muscular hypotonia, Mutism, Obesity, Obsessive-compulsive behavior, Protruding tongue, Recurrent respiratory infections, Short nose, Single transverse palmar crease, Sleep disturbance, Specific learning disability, Sporadic, Status epilepticus, Stereotypy, Synophrys, U-Shaped upper lip vermilion, Upslanted palpebral fissure
IPC-div1	POLH	0.668009827	0.004268337	DNA polymerase	BrainSpLMD|5429	OMIM|603968;HPO|5429|Autosomal recessive inheritance, Basal cell carcinoma, Conjunctivitis, Cutaneous melanoma, Cutaneous photosensitivity, Dermal atrophy, Dry skin, Ectropion, Entropion, Freckles in sun-exposed areas, Hypopigmentation of the skin, Keratitis, Melanoma, Photophobia, Poikiloderma, Squamous cell carcinoma, Telangiectasia
IPC-div1	SRGAP2C	0.473153043	0.004283654			OMIM|614704
IPC-div1	KARS	0.74215541	0.004305169	Enzyme: Ligase	BrainSpLMD|3735;Eurexp|euxassay_002719|orbito-sphenoid	OMIM|601421;HPO|3735|Areflexia, Autosomal recessive inheritance, Distal sensory impairment, Foot dorsiflexor weakness, Global developmental delay, Hearing impairment, Hyporeflexia, Pes cavus, Steppage gait, Vestibular Schwannoma
IPC-div1	RP11.798M19.6	0.425031141	0.004329852			
IPC-div1	CTCF	0.537450068	0.004422697	Transcription regulatory protein	BrainSpLMD|10664	SFARI||Autism, 3 - Suggestive evidence;OMIM|604167;COSMIC||endometrial, breast, head and neck cancer, Mental retardation, autosomal dominant 21;HPO|10664|Abnormality of the dentition, Autosomal dominant inheritance, Cryptorchidism, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hypermetropia, Intellectual disability, Microcephaly, Short stature, Strabismus, Thin vermilion border
IPC-div1	KAT2B	0.488393685	0.004429224	Transcription regulatory protein	BrainSpLMD|8850	SFARI||Autism, 2 - Strong candidate;OMIM|602303
IPC-div1	RP5.857K21.7	1.013146785	0.004509657			
IPC-div1	NUP93	0.645811823	0.004590796	Membrane transport protein	BrainSpLMD|9688	OMIM|614351;HPO|9688|Autosomal recessive inheritance, Diffuse mesangial sclerosis, Hematuria, Progressive, Stage 5 chronic kidney disease
IPC-div1	RP11.85O21.5	0.697062245	0.004658178			
IPC-div1	SPRTN	0.832216564	0.004717865	Unclassified	BrainSpLMD|83932	OMIM|616086;HPO|83932|Autosomal recessive inheritance, Bulbous nose, Decreased body weight, Delayed skeletal maturation, Down-sloping shoulders, Elbow flexion contracture, Frontal bossing, Hepatocellular carcinoma, Lipodystrophy, Micrognathia, Pectus excavatum, Pes planus, Posterior subcapsular cataract, Prominent nasal bridge, Short stature, Skeletal muscle atrophy, Thoracic kyphoscoliosis, Triangular face
IPC-div1	KIAA0232	0.306762062	0.004738676	Unclassified	BrainSpLMD|9778	
IPC-div1	RP11.396K3.1	0.317809351	0.004752418			
IPC-div1	POLR2E	0.469805454	0.004753856	RNA polymerase	BrainSpLMD|5434;Eurexp|euxassay_011641|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|180664
IPC-div1	ZNF300	0.932367224	0.004783501	DNA binding protein	BrainSpLMD|91975	OMIM|612429
IPC-div1	BLOC1S1	0.66085796	0.004797251	Enzyme: Acyltransferase	BrainSpLMD|2647	OMIM|601444
IPC-div1	MIB1	0.337133196	0.004863335	Ubiquitin proteasome system protein	BrainSpLMD|57534;Eurexp|euxassay_013905|glossopharyngeal IX, mantle layer, molar, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|86214	SFARI||Autism, 4 - Minimal evidence;OMIM|608677;HPO|57534|Autosomal dominant inheritance, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy
IPC-div1	COX8A	0.291166004	0.004863374	Enzyme: Oxidoreductase	BrainSpLMD|1351	OMIM|123870
IPC-div1	SSH2	0.553192371	0.004922397	Dual specificity phosphatase	BrainSpLMD|85464	OMIM|606779
IPC-div1	ZNF217	0.888203605	0.004933864	Transcription factor	BrainSpLMD|7764	OMIM|602967
IPC-div1	RP11.268I9.1	0.361614135	0.004991021			
IPC-div1	PSMB3	0.43524246	0.005082041	Ubiquitin proteasome system protein	BrainSpLMD|5691;Eurexp|euxassay_003314|dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, incisor, molar, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|602176
IPC-div1	FOXN2	0.55038481	0.005089006	DNA binding protein	BrainSpLMD|3344;Eurexp|euxassay_019499|incisor, liver, lung, mandible, mantle layer, marginal layer, maxilla, molar, submandibular gland primordium, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|14013	OMIM|143089
IPC-div1	SUV39H2	0.606188663	0.00511426	Enzyme: Methyltransferase	BrainSpLMD|79723	OMIM|606503
IPC-div1	AC004158.2	1.011375668	0.005115395			
IPC-div1	AC004381.6	0.835796763	0.005118624			
IPC-div1	NSMCE1	0.600979553	0.005149098	Unclassified	BrainSpLMD|197370	OMIM|617263
IPC-div1	TEAD1	0.889662307	0.005159244	Transcription factor	BrainSpLMD|7003;BrainSpMouseDev|21437	OMIM|189967;HPO|7003|Astigmatism, Autosomal dominant inheritance, Myopia, Peripapillary chorioretinal atrophy, Slow progression
IPC-div1	ARMC1	0.321772057	0.005163157	Unclassified	BrainSpLMD|55156	
IPC-div1	DACH1	0.748918704	0.005173526	Transcription regulatory protein	BrainSpLMD|1602;Eurexp|euxassay_012739|associated mesenchyme, bladder, calyces, cortex, dermis, dorsal root ganglion, facial VII, left lung, mantle layer, meninges, midgut, olfactory, oral region, pelvis, penis, retina, right lung, stomach, thymus primordium, trigeminal V, ureter, urethra, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|12914	OMIM|603803
IPC-div1	ZNF362	0.852913934	0.005271223	Unclassified	BrainSpLMD|149076	
IPC-div1	CIAPIN1	0.913673347	0.005321431	Unclassified	BrainSpLMD|57019;Eurexp|euxassay_003162|cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, molar, neural retina, olfactory, stroma, submandibular gland primordium, thoracic, trigeminal V, urethra, vagus X, vestibulocochlear VIII	OMIM|608943
IPC-div1	PEX19	0.391071759	0.005335067	Integral membrane protein	BrainSpLMD|5824	OMIM|600279;HPO|5824|Abnormal cortical bone morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the hairline, Abnormality of the liver, Abnormality of the male genitalia, Abnormality of the palate, Anteverted nares, Ataxia, Atrial septal defect, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, CNS demyelination, Cataract, Central hypotonia, Cerebral atrophy, Cholelithiasis, Chorioretinal abnormality, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cranial asymmetry, Cryptorchidism, Death in infancy, Decreased body weight, Decreased fetal movement, Delayed closure of the anterior fontanelle, Depressed nasal bridge, Developmental regression, Dolichocephaly, Double outlet right ventricle, EEG abnormality, Elevated hepatic transaminases, Elevated levels of phytanic acid, Elevated long chain fatty acids, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Global developmental delay, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydrocephalus, Hydronephrosis, Hyperbilirubinemia, Hyperreflexia, Hypospadias, Jaundice, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Muscular hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Patent ductus arteriosus, Periorbital fullness, Polymicrogyria, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Prominent nose, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Renal tubular dysfunction, Respiratory insufficiency, Rod-cone dystrophy, Scaphocephaly, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Skeletal dysplasia, Spasticity, Strabismus, Triangular face, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
IPC-div1	IKZF5	0.976908092	0.00535756	Transcription factor	BrainSpLMD|64376;Eurexp|euxassay_006896|ventricular layer;BrainSpMouseDev|42986	OMIM|606238
IPC-div1	TRAPPC13	0.458271474	0.00546822	Unclassified	BrainSpLMD|80006	
IPC-div1	RSRC1	0.531468776	0.005501065	Unclassified	BrainSpLMD|51319	OMIM|613352
IPC-div1	ZNF273	0.696935553	0.00555425	Transcription factor	BrainSpLMD|10793	OMIM|604756
IPC-div1	LINC01224	0.761598695	0.005723198			
IPC-div1	SH3PXD2A	0.76492452	0.005744963	Adapter molecule	BrainSpLMD|9644;Eurexp|euxassay_012261|clavicle, meninges, mesenchyme, skeletal muscle, ventricular layer	
IPC-div1	EXOG	0.4702923	0.005767535	Unclassified	BrainSpLMD|9941	OMIM|604051
IPC-div1	NUDT4	0.27570969	0.005788782	Unclassified	BrainSpLMD|11163	OMIM|609229
IPC-div1	OTUD6B	0.3339938	0.005789593	Unclassified	BrainSpLMD|51633	OMIM|612021;HPO|51633|Autistic behavior, Autosomal recessive inheritance, Brachycephaly, Broad thumb, Cryptorchidism, Downslanted palpebral fissures, Failure to thrive, Feeding difficulties, Flat occiput, Flexion contracture, Generalized hypotonia, Global developmental delay, Hearing impairment, High palate, Highly arched eyebrow, Hypoplasia of the corpus callosum, Inability to walk, Intellectual disability, severe, Intrauterine growth retardation, Long eyelashes, Long face, Long palpebral fissure, Long philtrum, Low-set ears, Macrotia, Microcephaly, Overlapping toe, Phenotypic variability, Prominent nasal bridge, Protruding ear, Retrognathia, Sacral dimple, Scoliosis, Short neck, Short stature, Spastic tetraplegia, Talipes equinovarus, Tapered finger, Thin upper lip vermilion, Ventriculomegaly, Wide nasal bridge
IPC-div1	JAM2	0.267903064	0.005840861	Adhesion molecule	BrainSpLMD|58494	OMIM|606870
IPC-div1	HEG1	0.295829522	0.005843435	Calcium binding protein	BrainSpLMD|57493;Eurexp|euxassay_005510|ventricular layer	OMIM|614182
IPC-div1	RP11.706O15.3	1.241080109	0.005908179			
IPC-div1	ZNF675	0.61525454	0.005922023	Transcription regulatory protein	BrainSpLMD|171392	
IPC-div1	RCC2	0.472118974	0.005958688	Cell cycle control protein	BrainSpLMD|55920;Eurexp|euxassay_006452|cortex, hindgut, incisor, left, left lung, marginal layer, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pharyngo-tympanic tube, rectum, right, right lung, stomach, submandibular gland primordium, testis, thymus primordium, trachea, urethra, ventricular layer, vibrissa	OMIM|609587
IPC-div1	RP11.543P15.1	0.666834874	0.005963448			
IPC-div1	RBM15	0.979749158	0.006075935	RNA binding protein	BrainSpLMD|64783	OMIM|606077;COSMIC||acute megakaryocytic leukaemia
IPC-div1	GKAP1	0.797025659	0.006076389	Anchor protein	BrainSpLMD|80318	OMIM|611356
IPC-div1	GJC1	0.5363947	0.006088267	Transport/cargo protein	BrainSpLMD|10052;Eurexp|euxassay_012257|cortex, incisor, mantle layer, trachea, ventricular layer	OMIM|608655
IPC-div1	B4GALT4	0.595336993	0.006102635	Enzyme: Galactosyltransferase	BrainSpLMD|8702;Eurexp|euxassay_016198|thyroid	OMIM|604015
IPC-div1	MAGI1	0.654988692	0.006137513	Cell junction protein	BrainSpLMD|9223;Eurexp|euxassay_016214|axial skeleton, clavicle, femur, fibula, humerus, pelvic girdle, rib, scapula, tibia	OMIM|602625
IPC-div1	CLGN	1.028133379	0.00617131	Chaperone	BrainSpLMD|1047	OMIM|601858
IPC-div1	CISD2	0.553186656	0.006383407	Unclassified	BrainSpLMD|493856	OMIM|611507;HPO|493856|Abnormal bleeding, Abnormality of mesentery morphology, Ataxia, Autosomal recessive inheritance, Depressivity, Diabetes insipidus, Diabetes mellitus, Dysarthria, Dysuria, Feeding difficulties in infancy, Impaired collagen-induced platelet aggregation, Nephropathy, Nystagmus, Optic atrophy, Optic neuropathy, Polydipsia, Recurrent urinary tract infections, Seizures, Sensorineural hearing impairment
IPC-div1	DANCR	0.319256196	0.00640005			OMIM|614625
IPC-div1	ANXA5	0.424439217	0.006462472	Calcium binding protein	BrainSpLMD|308;Eurexp|euxassay_002158|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, meninges, renal/urinary system, reproductive system, respiratory system, tail	OMIM|131230
IPC-div1	OS9	1.104383665	0.006617739	Unclassified	BrainSpLMD|10956;Eurexp|euxassay_003123|Meckel's cartilage, cervical, cervico-thoracic, chondrocranium, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, lobe, molar, orbito-sphenoid, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|609677
IPC-div1	SCLT1	0.960996842	0.006648503	Adapter molecule	BrainSpLMD|132320	OMIM|611399
IPC-div1	FUT9	0.427648193	0.006667716	Enzyme: Fucosyltransferase	BrainSpLMD|10690	OMIM|606865
IPC-div1	COPS6	0.390956911	0.006671069	Cell cycle control protein	BrainSpLMD|10980	OMIM|614729
IPC-div1	MPP5	0.679013988	0.006672606	Unclassified	BrainSpLMD|64398	OMIM|606958
IPC-div1	ZNF518B	0.440615419	0.006703276	Unclassified		OMIM|617734
IPC-div1	BASP1	0.303340998	0.006710872	Transcription regulatory protein	BrainSpLMD|10409	OMIM|605940
IPC-div1	SLC38A2	0.462872909	0.006806655	Transport/cargo protein	BrainSpLMD|54407;Eurexp|euxassay_019685|adrenal gland, clavicle, incisor, lung, meninges, metanephros, molar, neural retina, phalanx, submandibular gland primordium, turbinate bones, vibrissa	OMIM|605180
IPC-div1	CBX3P9	0.325064501	0.006813451			
IPC-div1	UBAP2	0.485848014	0.006836961	Unclassified	BrainSpLMD|55833	
IPC-div1	HAUS6	0.924570629	0.006930045	Unclassified	BrainSpLMD|54801	OMIM|613433
IPC-div1	BARD1	0.633601485	0.007220257	Transcription regulatory protein	BrainSpLMD|580	OMIM|601593;COSMIC||breast cancer, ovarian cancer, breast cancer, endometrioid cancer;HPO|580|Abnormality of the fallopian tube, Breast carcinoma, Ovarian neoplasm, Primary peritoneal carcinoma
IPC-div1	ASNSD1	0.494952928	0.007299868	Unclassified	BrainSpLMD|54529;Eurexp|euxassay_004908|cavities and their linings, limb, organ system, tail, vertebral axis muscle system	
IPC-div1	BUD13	0.789996761	0.007335838	Unclassified	BrainSpLMD|84811	
IPC-div1	GTF2I	0.573708837	0.007397481	Transcription factor	BrainSpLMD|2969	SFARI||Autism, 4 - Minimal evidence;OMIM|601679;HPO|2969|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the neck, Anxiety, Arthralgia, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad forehead, Cerebral ischemia, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Dental malocclusion, Depressivity, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Epicanthus, Everted lower lip vermilion, Failure to thrive in infancy, Gait imbalance, Genu valgum, Hallux valgus, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Inguinal hernia, Insomnia, Intellectual disability, Joint stiffness, Kyphosis, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Microcephaly, Microdontia, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Open bite, Overfriendliness, Pelvic kidney, Periorbital edema, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Proteinuria, Protruding ear, Pulmonic stenosis, Redundant skin, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Visual impairment, Wide mouth, Wide nasal bridge
IPC-div1	TMEM256	0.461459291	0.007417662	Integral membrane protein	BrainSpLMD|254863	OMIM|617779
IPC-div1	TGIF2	0.642357354	0.007431106	Transcription factor	BrainSpLMD|60436;Eurexp|euxassay_019508|axial skeleton, cornea, epithelium, incisor, lung, marginal layer, metanephros, molar, neural retina, oesophagus, olfactory, phalanx, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|86790	OMIM|607294
IPC-div1	CDK16	0.635489405	0.007451384	Serine/threonine kinase	BrainSpLMD|5127;Eurexp|euxassay_018526|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|311550
IPC-div1	WAPAL	0.309199004	0.00755343			
IPC-div1	AKT3	0.426566807	0.007558652	Serine/threonine kinase	BrainSpLMD|10000;Eurexp|euxassay_006568|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611223;COSMIC||GBM;HPO|10000|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Cutis marmorata, Depressed nasal bridge, Hemimegalencephaly, High forehead, Hydrocephalus, Hyperextensible skin, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
IPC-div1	AP000962.2	0.468879376	0.007641586			
IPC-div1	TMTC4	0.540356984	0.007701815	Integral membrane protein	BrainSpLMD|84899;Eurexp|euxassay_007002|embryo	
IPC-div1	PLGRKT	0.96765704	0.007819794	Integral membrane protein	BrainSpLMD|55848;Eurexp|euxassay_001488|thymus primordium	
IPC-div1	PGRMC2	0.649061804	0.007964314	Integral membrane protein	BrainSpLMD|10424;Eurexp|euxassay_007705|facial VII, mantle layer, pharyngo-tympanic tube, submandibular gland primordium, trigeminal V, vagus X;BrainSpMouseDev|46645	OMIM|607735
IPC-div1	TMEM194A	0.689804648	0.008100678			
IPC-div1	TFDP2	0.342919099	0.008221024	Transcription factor	BrainSpLMD|7029;Eurexp|euxassay_009223|liver, marginal layer, nasal capsule, neural retina, olfactory, ventricular layer;BrainSpMouseDev|84320	OMIM|602160
IPC-div1	CENPT	0.54283785	0.008228325	Unclassified	BrainSpLMD|80152	OMIM|611510
IPC-div1	RNF169	0.967151071	0.008236247	Transcription regulatory protein		
IPC-div1	DENND5A	0.375417872	0.008309817	Unclassified	BrainSpLMD|23258	OMIM|617278
IPC-div1	POLDIP3	0.349287477	0.008317656	RNA binding protein	BrainSpLMD|84271	OMIM|611520
IPC-div1	RBM41	0.567576763	0.008332481	RNA binding protein	BrainSpLMD|55285	
IPC-div1	PRIM2	1.327537514	0.008382717	RNA polymerase	BrainSpLMD|5558;Eurexp|euxassay_018428|incisor, left, marginal layer, molar, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|176636
IPC-div1	DNAJC8	0.507844197	0.008450166	Chaperone	BrainSpLMD|22826	
IPC-div1	TMEM60	0.925466042	0.008457493	Integral membrane protein	BrainSpLMD|85025	
IPC-div1	RP13.585F24.1	0.357443671	0.008642654			
IPC-div1	MSANTD3	0.61815812	0.00864352	Unclassified	BrainSpLMD|91283	
IPC-div1	NUDC	0.702203887	0.008655946	Cell cycle control protein	BrainSpLMD|10726	OMIM|610325
IPC-div1	7-Sep	0.310709883	0.008769447			
IPC-div1	CSRNP2	0.939239645	0.008838627	Unclassified	BrainSpLMD|81566	
IPC-div1	POT1.AS1	0.577234145	0.008906939			
IPC-div1	NPM1P27	0.433365396	0.008968144			
IPC-div1	SEZ6L	0.481980961	0.008969298	Integral membrane protein	BrainSpLMD|23544;Eurexp|euxassay_009459|brain, neural retina, spinal cord	OMIM|607021
IPC-div1	TDP1	0.884312341	0.009010948	Enzyme: Phosphodiesterase	BrainSpLMD|55775	OMIM|607198;HPO|55775|Ataxia, Autosomal recessive inheritance, Distal amyotrophy, Peripheral axonal neuropathy, Pes cavus, Steppage gait
IPC-div1	ZNF286B	0.25258453	0.009047842	Unclassified		
IPC-div1	NAA16	0.577641385	0.009115824	Unclassified	BrainSpLMD|79612	
IPC-div1	NF2	0.56293625	0.009431924	Cytoskeletal associated protein	BrainSpLMD|4771	OMIM|607379;COSMIC||meningioma, acoustic neuroma, renal, meningioma, acoustic neuroma;HPO|4771|Abnormality of the skin, Abnormality of the vertebral column, Adult onset, Ataxia, Autosomal dominant inheritance, Cataract, Epiretinal membrane, Incomplete penetrance, Meningioma, Migraine, Peripheral neuropathy, Schwannoma, Sensorineural hearing impairment, Somatic mutation, Spinal cord tumor, Tinnitus, Variable expressivity, Vertigo
IPC-div1	PPP2R5D	0.923378688	0.00958533	Serine/threonine phosphatase	BrainSpLMD|5528	SFARI||Autism, 4 - Minimal evidence;OMIM|601646;HPO|5528|Autosomal dominant inheritance, Chronic diarrhea, Congenital hip dislocation, Congenital muscular torticollis, Deeply set eye, Downslanted palpebral fissures, Facial hypotonia, Generalized hypotonia, Global developmental delay, Hydrocephalus, Hypertelorism, Hypoglycemia, Intellectual disability, Macrocephaly, Myopia, Narrow forehead, Open mouth, Pyloric stenosis, Seizures, Strabismus, Ventriculomegaly
IPC-div1	RABL3	0.768571566	0.009622996	GTPase		
IPC-div1	DHX38	0.755109075	0.009631423	RNA binding protein	BrainSpLMD|9785	OMIM|605584
IPC-div1	RASGRP1	1.010312619	0.009680779	Guanine nucleotide exchange factor	BrainSpLMD|10125;Eurexp|euxassay_005719|mantle layer, olfactory, olfactory lobe	OMIM|603962
IPC-div1	RNF5	0.759399458	0.009720083	Enzyme: Ligase		OMIM|602677
IPC-div1	PSMC2	0.581161385	0.009810334	Ubiquitin proteasome system protein	BrainSpLMD|5701	OMIM|154365
IPC-div1	CWF19L1	0.714994758	0.009933846	Unclassified	BrainSpLMD|55280	OMIM|616120;HPO|55280|Autosomal recessive inheritance, Dysarthria, Dysmetria, Generalized hypotonia, Global developmental delay, Infantile onset, Intellectual disability, Nonprogressive, Slow progression, Tremor, Truncal ataxia, Unsteady gait
IPC-div1	EXOSC9	0.337449608	0.009964639	Ribonuclease	BrainSpLMD|5393	OMIM|606180
IPC-div1	STARD3NL	0.340449445	0.009971903	Integral membrane protein	BrainSpLMD|83930;Eurexp|euxassay_012114|Meckel's cartilage, arytenoid, axial skeleton, basioccipital bone, basisphenoid bone, cricoid, femur, fibula, humerus, hyoid bone, metacarpus, metatarsus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, sternum, tarsus, thyroid, tibia, turbinate bones, ulna, vault of skull	OMIM|611759
IPC-div1	SFR1	1.168727729	0.009983389	Unclassified	BrainSpLMD|119392;Eurexp|euxassay_002043|ventricular layer	OMIM|616527
IPC-div2	NEUROD4	3.244124179	0	Transcription factor	BrainSpLMD|58158;Eurexp|euxassay_019457|intermediate grey horn, lung, neural retina, pineal primordium, pituitary, ventricular layer;BrainSpMouseDev|11709	OMIM|611635
IPC-div2	RAD51AP1	2.974451588	0	DNA binding protein	BrainSpLMD|10635;Eurexp|euxassay_010685|ventricular layer	OMIM|603070
IPC-div2	MYBL2	2.783039675	0	Transcription factor	BrainSpLMD|4605;Eurexp|euxassay_002836|incisor, integumental system, lobe, marginal layer, skeleton, thymus primordium, ventricular layer, vibrissa;BrainSpMouseDev|17632	OMIM|601415
IPC-div2	HIST1H1B	2.772050926	0	DNA binding protein	BrainSpLMD|3009;Eurexp|euxassay_012857|marginal layer, ventricular layer	OMIM|142711
IPC-div2	DIAPH3	2.726453559	0	Unclassified	BrainSpLMD|81624;Eurexp|euxassay_012699|incisor, molar, pituitary, submandibular gland primordium, ventricular layer, vibrissa	SFARI||Autism, 5 - Hypothesized but untested;OMIM|614567;HPO|81624|Abnormal auditory evoked potentials, Abnormal speech discrimination, Absence of acoustic reflex, Autosomal dominant inheritance, Sensorineural hearing impairment
IPC-div2	KIAA0101	2.669020782	0			
IPC-div2	RRM2	2.632640742	0	Cell cycle control protein	BrainSpLMD|6241;Eurexp|euxassay_004733|footplate, handplate, hindbrain, leg, liver, lung, mantle layer, mesenchyme, metanephros, olfactory, retina, spinal cord, tail, ventricular layer, vibrissa	OMIM|180390
IPC-div2	EOMES	2.606134779	0	Transcription factor	BrainSpLMD|8320;BrainSpMouseDev|13591	OMIM|604615
IPC-div2	CDCA5	2.510726904	0	Unclassified	BrainSpLMD|113130	OMIM|609374
IPC-div2	DTL	2.413023051	0	Unclassified	BrainSpLMD|51514;Eurexp|euxassay_012578|choroid plexus, ventricular layer	OMIM|610617
IPC-div2	SPC24	2.337806566	0	Cell cycle control protein	BrainSpLMD|147841;Eurexp|euxassay_006353|ventricular layer	OMIM|609394
IPC-div2	ZWINT	2.307824399	0	Cell cycle control protein	BrainSpLMD|11130;Eurexp|euxassay_009942|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, valve, vestibulocochlear VIII	OMIM|609177
IPC-div2	MELK	2.265340345	0	Serine/threonine kinase	BrainSpLMD|9833;Eurexp|euxassay_018584|4th ventricle, choroid plexus, clavicle, cortex, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, hindgut, incisor, left, loop, lumen, mandible, mantle layer, maxilla, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, pancreas, rectum, renal/urinary system, respiratory, right, stomach, submandibular gland primordium, testis, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|607025
IPC-div2	DHFR	2.231241015	0	Enzyme: Oxidoreductase		OMIM|126060;HPO|1719|Absence seizures, Ataxia, Autosomal recessive inheritance, Cerebral atrophy, Delayed myelination, Eyelid myoclonus, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hepatomegaly, Jaundice, Megaloblastic anemia, Pallor, Pancytopenia, Poor head control, Postnatal microcephaly, Thrombocytopenia, Variable expressivity
IPC-div2	MCM10	2.218184198	0	DNA binding protein	BrainSpLMD|55388	OMIM|609357
IPC-div2	SPC25	2.174158257	0	Cell cycle control protein	BrainSpLMD|57405;Eurexp|euxassay_000451|mantle layer, medulla oblongata, ventral grey horn, ventricular layer	OMIM|609395
IPC-div2	CLSPN	2.136399319	0	Cell cycle control protein	BrainSpLMD|63967;Eurexp|euxassay_004199|ventricular layer	OMIM|605434
IPC-div2	PCNA	2.010204252	0	Cell cycle control protein	BrainSpLMD|5111;Eurexp|euxassay_005732|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, spinal cord, ventricular layer	OMIM|176740;HPO|5111|Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Conjunctival telangiectasia, Cutaneous photosensitivity, Dysarthria, Dysphagia, Global developmental delay, Muscle weakness, Neurodegeneration, Pes cavus, Photophobia, Progressive, Progressive muscle weakness, Short stature, Unsteady gait
IPC-div2	KIF15	2.003167628	0	Cell cycle control protein	BrainSpLMD|56992	OMIM|617569
IPC-div2	PPP1R17	1.986614307	0	Unclassified	BrainSpLMD|10842;Eurexp|euxassay_003055|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, stroma, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|604088
IPC-div2	HIST1H4C	1.985568069	0	DNA binding protein	BrainSpLMD|8364	OMIM|602827
IPC-div2	CENPN	1.957751395	0	Unclassified	BrainSpLMD|55839	OMIM|611509
IPC-div2	FAM111A	1.949235149	0	Unclassified	BrainSpLMD|63901;Eurexp|euxassay_011616|lobe, mandible, maxilla, orbito-sphenoid, thymus primordium, thyroid, ventricular layer	OMIM|615292;HPO|63901|Abnormality of the medullary cavity of the long bones, Anemia, Aniridia, Ankyloglossia, Ascites, Autosomal dominant inheritance, Basal ganglia calcification, Brachydactyly, Congenital cataract, Delayed closure of the anterior fontanelle, Failure to thrive, Flared metaphysis, Global developmental delay, Hydrocephalus, Hypermetropia, Hypocalcemia, Hypoparathyroidism, Hypoplastic spleen, Increased bone mineral density, Macrocephaly, Micropenis, Microphthalmia, Papilledema, Prominent forehead, Retinal calcification, Seizures, Severe short stature, Short stature, Slender long bone, Small for gestational age, Thickened cortex of long bones, Transient hypophosphatemia
IPC-div2	HIST1H1A	1.944946544	0	DNA binding protein	BrainSpLMD|3024	OMIM|142709
IPC-div2	CENPK	1.921036759	0	Unclassified	BrainSpLMD|64105	OMIM|611502
IPC-div2	ESCO2	1.87030892	0	Unclassified		OMIM|609353;HPO|157570|Abnormality of cardiovascular system morphology, Abnormality of the metacarpal bones, Absent earlobe, Absent radius, Accessory spleen, Ankle contracture, Aortic valve stenosis, Aplasia of the ulna, Aplasia/Hypoplasia of the thumb, Atrial septal defect, Autosomal recessive inheritance, Bicornuate uterus, Biliary tract abnormality, Blue sclerae, Bowing of the long bones, Brachycephaly, Brachydactyly, Cafe-au-lait spot, Cataract, Cleft eyelid, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Clitoral hypertrophy, Complete duplication of thumb phalanx, Cranial nerve paralysis, Craniosynostosis, Cryptorchidism, Cystic hygroma, Downslanted palpebral fissures, Elbow flexion contracture, Enlarged labia minora, External ear malformation, Fair hair, Frontal encephalocele, Global developmental delay, Hand oligodactyly, High palate, Hip contracture, Horseshoe kidney, Hydrocephalus, Hypertelorism, Hypoplasia of the radius, Hypospadias, Intellectual disability, Intrauterine growth retardation, Knee flexion contracture, Long penis, Low-set ears, Malar flattening, Mesomelic arm shortening, Microcephaly, Micrognathia, Microphthalmia, Midface capillary hemangioma, Narrow naris, Opacification of the corneal stroma, Patent ductus arteriosus, Phocomelia, Polycystic kidney dysplasia, Polyhydramnios, Posteriorly rotated ears, Postnatal growth retardation, Premature birth, Premature separation of centromeric heterochromatin, Proptosis, Proximal placement of thumb, Radial deviation of finger, Radioulnar synostosis, Seizures, Severe intrauterine growth retardation, Shallow orbits, Short neck, Short stature, Short thumb, Sparse hair, Syndactyly, Talipes equinovalgus, Tetraphocomelia, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide nasal bridge, Wormian bones, Wrist flexion contracture
IPC-div2	NDC80	1.836963056	0	Cell cycle control protein	BrainSpLMD|10403;Eurexp|euxassay_006923|embryo	OMIM|607272
IPC-div2	RPL21P28	1.82439788	0			
IPC-div2	MCM3	1.823643896	0	DNA binding protein	BrainSpLMD|4172;Eurexp|euxassay_001694|marginal layer, ventricular layer	OMIM|602693
IPC-div2	MKI67	1.78827776	0	Cell cycle control protein	BrainSpLMD|4288	OMIM|176741
IPC-div2	UHRF1	1.761161257	0	DNA binding protein	BrainSpLMD|29128	OMIM|607990
IPC-div2	ATAD2	1.753445133	0	ATPase	BrainSpLMD|29028;Eurexp|euxassay_012771|ventricular layer	OMIM|611941
IPC-div2	FANCD2	1.746000457	0	Cell cycle control protein	BrainSpLMD|2177	OMIM|613984;COSMIC||AML, leukaemia;HPO|2177|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of skin pigmentation, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anemia, Anemic pallor, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bruising susceptibility, Cafe-au-lait spot, Chromosomal breakage induced by crosslinking agents, Complete duplication of thumb phalanx, Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Duplicated collecting system, Ectopic kidney, Esophageal atresia, Global developmental delay, Hearing impairment, Horseshoe kidney, Hypergonadotropic hypogonadism, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukemia, Leukopenia, Microcephaly, Microphthalmia, Neutropenia, Pancytopenia, Prolonged G2 phase of cell cycle, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Reticulocytopenia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Small for gestational age, Strabismus, Thrombocytopenia, Tracheoesophageal fistula
IPC-div2	BIRC5	1.726588751	0	Adapter molecule	BrainSpLMD|332	OMIM|603352
IPC-div2	HMGN2P5	1.724532039	0			
IPC-div2	SKA3	1.714201919	0	Unclassified	BrainSpLMD|221150;Eurexp|euxassay_011780|brain, choroid invagination, left lung, mantle layer, right lung, ventricle, vertebral axis muscle system	
IPC-div2	FANCI	1.657687731	0	Unclassified	BrainSpLMD|55215	OMIM|611360;HPO|55215|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
IPC-div2	NUSAP1	1.646629416	0	Cell cycle control protein	BrainSpLMD|51203	OMIM|612818
IPC-div2	HELLS	1.643488884	0	DNA binding protein	BrainSpLMD|3070	OMIM|603946;HPO|3070|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Congenital onset, Decreased antibody level in blood, Depressed nasal bridge, Epicanthus, Global developmental delay, Hypertelorism, Intellectual disability, Lymphopenia, Macrocephaly, Malabsorption, Micrognathia, Recurrent infections, Recurrent respiratory infections, Short stature
IPC-div2	UBE2T	1.639526146	0	Ubiquitin proteasome system protein	BrainSpLMD|29089;Eurexp|euxassay_004872|olfactory, respiratory, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|610538;HPO|29089|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bone marrow hypocellularity, Duplication of thumb phalanx, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pancytopenia, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Thrombocytopenia
IPC-div2	NCAPG	1.637392539	0	DNA binding protein	BrainSpLMD|64151;Eurexp|euxassay_013748|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|606280
IPC-div2	HIST1H1D	1.617616604	0	DNA binding protein	BrainSpLMD|3007;Eurexp|euxassay_000515|marginal layer, ventricular layer	OMIM|142210
IPC-div2	RRM1	1.611453034	0	Cell cycle control protein	BrainSpLMD|6240;Eurexp|euxassay_018692|cortex, incisor, lobe, lung, mandible, marginal layer, mesenchyme, molar, neural retina, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|180410
IPC-div2	CKAP2L	1.601301681	0	Unclassified	BrainSpLMD|150468;Eurexp|euxassay_002011|thymus primordium, ventricular layer	OMIM|616174;HPO|150468|2-4 toe syndactyly, Aphasia, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Broad forehead, Cerebellar atrophy, Clinodactyly of the 5th finger, Cryptorchidism, Decreased body weight, Delayed skeletal maturation, Dysphasia, Dystonia, Echolalia, Finger syndactyly, Frontal bossing, Frontal hirsutism, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Low hanging columella, Microcephaly, Microdontia, Mutism, Optic atrophy, Postnatal growth retardation, Prominent forehead, Prominent nasal bridge, Proptosis, Seizures, Severe short stature, Short philtrum, Single transverse palmar crease, Specific learning disability, Thin vermilion border, Underdeveloped nasal alae, Ventricular septal defect, Visual impairment, Wide nasal bridge, Wide nose
IPC-div2	HMGN2	1.5724299	0	Transcription regulatory protein	BrainSpLMD|3151;Eurexp|euxassay_007442|embryo;BrainSpMouseDev|15106	OMIM|163910
IPC-div2	BRCA1	1.563398359	0	Transcription regulatory protein	BrainSpLMD|672;Eurexp|euxassay_019531|incisor, liver, lung, marginal layer, metanephros, molar, olfactory, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|11975	OMIM|113705;COSMIC||ovarian, breast, ovarian;HPO|672|Abdominal distention, Abdominal pain, Abnormality of the fallopian tube, Autosomal dominant inheritance, Breast carcinoma, Constipation, Heterogeneous, Nausea and vomiting, Neoplasm, Ovarian neoplasm, Peritonitis, Primary peritoneal carcinoma
IPC-div2	CDK1	1.553648348	0	Serine/threonine kinase	BrainSpLMD|983	OMIM|116940
IPC-div2	HES6	1.543676326	0	Transcription regulatory protein	BrainSpLMD|55502;Eurexp|euxassay_018314|head mesenchyme, marginal layer, mesenchyme, molar, neural retina, olfactory, respiratory, retina, skeletal muscle, thymus primordium, trachea, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|35214	OMIM|610331
IPC-div2	CENPU	1.541886171	0	Unclassified	BrainSpLMD|79682	OMIM|611511
IPC-div2	WDR76	1.534959881	0	Unclassified	BrainSpLMD|79968	
IPC-div2	CASC5	1.510784313	0			
IPC-div2	HMGB2	1.510147354	0	Transcription regulatory protein	BrainSpLMD|3148;Eurexp|euxassay_019251|incisor, lobe, lung, marginal layer, metanephros, molar, neural retina, oesophagus, pancreas, pituitary, submandibular gland primordium, thymus primordium, thyroid, trachea, turbinate bones, valve, ventricle, ventricular layer, vertebral axis muscle system	OMIM|163906
IPC-div2	HIST1H1C	1.505230492	0	DNA binding protein	BrainSpLMD|3006;Eurexp|euxassay_015954|ventricular layer	OMIM|142710
IPC-div2	TYMS	1.489594495	0	Enzyme: Ligase	BrainSpLMD|7298;Eurexp|euxassay_008886|cardiovascular system, cavities and their linings, gland, integumental system, limb, marginal layer, mesenchyme, sensory organ, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|188350
IPC-div2	HMGN2P3	1.486096287	0			
IPC-div2	TOP2A	1.427853266	0	Enzyme: Topoisomerase	BrainSpLMD|7153	OMIM|126430;HPO|7153|Elevated urinary catecholamines, Neoplasm of the nervous system
IPC-div2	SMC2	1.416095961	0	Unclassified	BrainSpLMD|10592;Eurexp|euxassay_011062|cortex, dorsal grey horn, incisor, lobe, lung, marginal layer, molar, orbito-sphenoid, submandibular gland primordium, thymus primordium, turbinate bones, ventral grey horn, ventricular layer, vibrissa	OMIM|605576
IPC-div2	SMC4	1.409618834	0	Structural protein	BrainSpLMD|10051;Eurexp|euxassay_017379|incisor, liver, lung, metanephros, molar, neural retina, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|605575
IPC-div2	PBK	1.395202873	0	Serine/threonine kinase	BrainSpLMD|55872;Eurexp|euxassay_018747|adrenal gland, cervical, cervico-thoracic, incisor, liver, mandible, marginal layer, maxilla, metanephros, molar, naris, neural retina, olfactory, pancreas, sublingual gland primordium, thoracic, thymus primordium, thyroid, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|611210
IPC-div2	PRC1	1.391924862	0	Cell cycle control protein	BrainSpLMD|9055	OMIM|603484
IPC-div2	TFAP2C	1.391052542	0	Transcription factor	BrainSpLMD|7022;BrainSpMouseDev|21181	OMIM|601602
IPC-div2	KNTC1	1.35529341	0	Cell cycle control protein	BrainSpLMD|9735;Eurexp|euxassay_011295|ventricular layer	OMIM|607363
IPC-div2	CENPF	1.343603714	0	Cell cycle control protein	BrainSpLMD|1063	OMIM|600236
IPC-div2	CENPO	1.29227224	0	Unclassified	BrainSpLMD|79172;Eurexp|euxassay_000072|Meckel's cartilage, basal plate, chondrocranium, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, molar, olfactory, submandibular gland primordium, testis, thymus primordium, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|611504
IPC-div2	TPX2	1.281755179	0	Cell cycle control protein	BrainSpLMD|22974	OMIM|605917
IPC-div2	MIS18BP1	1.238223746	0	Transcription regulatory protein	BrainSpLMD|55320;Eurexp|euxassay_004198|ventricular layer	
IPC-div2	SGOL1	1.227228755	0			
IPC-div2	TMPO	1.188373923	0	Peptide hormone	BrainSpLMD|7112	OMIM|188380;HPO|7112|Autosomal dominant inheritance, Dilated cardiomyopathy, Reduced systolic function
IPC-div2	HIST1H3B	1.144653939	0	DNA binding protein	BrainSpLMD|8358	OMIM|602819;COSMIC||glioma
IPC-div2	PTTG1	1.03076912	0	Transcription regulatory protein	BrainSpLMD|9232	OMIM|604147
IPC-div2	H2AFZ	0.979389012	0	DNA binding protein	BrainSpLMD|3015	OMIM|142763
IPC-div2	HMGN2P41	0.768383261	0			
IPC-div2	GLI3	0.700669474	0	Transcription factor	BrainSpLMD|2737;Eurexp|euxassay_018378|axial skeleton, mesenchyme, phalanx, ventricular layer;BrainSpMouseDev|14410	OMIM|165240;HPO|2737|1-5 toe syndactyly, 3-4 finger syndactyly, Abnormal lung lobation, Abnormality of earlobe, Accelerated skeletal maturation, Anal atresia, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Bifid epiglottis, Broad hallux phalanx, Broad thumb, Cryptorchidism, Dandy-Walker malformation, Decreased circulating cortisol level, Decreased testicular size, Distal shortening of limbs, Distal urethral duplication, Dysplastic distal thumb phalanges with a central hole, Ectopic kidney, Esophageal atresia, Finger syndactyly, Frontal bossing, Growth hormone deficiency, High forehead, Hip dislocation, Holoprosencephaly, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplasia of the epiglottis, Intellectual disability, severe, Intrauterine growth retardation, Laryngeal cleft, Macrocephaly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Micropenis, Nail dysplasia, Neonatal death, Panhypopituitarism, Postaxial foot polydactyly, Postaxial hand polydactyly, Preaxial foot polydactyly, Preaxial polydactyly, Precocious puberty, Preductal coarctation of the aorta, Prominent occiput, Radial head subluxation, Renal cyst, Renal dysplasia, Renal hypoplasia, Scaphocephaly, Seizures, Short nose, Short stature, Sloping forehead, Telecanthus, Thyroid dysgenesis, Toe syndactyly, Tracheoesophageal fistula, Trigonocephaly, Triphalangeal thumb, Variable expressivity, Ventricular septal defect, Wide nasal bridge
IPC-div2	UBE2C	0.481069706	0	Ubiquitin proteasome system protein	BrainSpLMD|11065	OMIM|605574
IPC-div2	CHAF1B	2.506574513	1.11E-16	Chaperone	BrainSpLMD|8208;Eurexp|euxassay_005069|incisor, marginal layer, molar, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|601245
IPC-div2	CDK2	1.65117769	1.11E-16	Cell cycle control protein	BrainSpLMD|1017	OMIM|116953
IPC-div2	IQGAP3	1.631855356	1.11E-16	GTPase activating protein	BrainSpLMD|128239	SFARI||Autism, 4 - Minimal evidence
IPC-div2	GMNN	1.148746715	1.11E-16	Cell cycle control protein	BrainSpLMD|51053;Eurexp|euxassay_013652|cortex, incisor, lobe, lung, molar, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|602842;HPO|51053|Abnormality of epiphysis morphology, Abnormality of the ribs, Anotia, Aplastic clavicles, Atresia of the external auditory canal, Autosomal dominant inheritance, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Conductive hearing impairment, Craniosynostosis, Cryptorchidism, Delayed puberty, Delayed skeletal maturation, Depressed nasal ridge, Failure to thrive, Feeding difficulties, Growth hormone deficiency, High, narrow palate, Hip dysplasia, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Microtia, third degree, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Recurrent respiratory infections, Respiratory distress, Respiratory failure, Retrognathia, Severe short stature, Short middle phalanx of finger, Slender long bone, Stenosis of the external auditory canal, Umbilical hernia
IPC-div2	PAX6	1.015338606	1.11E-16	Transcription factor	BrainSpLMD|5080;BrainSpMouseDev|18274	SFARI||Autism, No category;OMIM|607108;HPO|5080|Abnormal best corrected visual acuity test, Abnormality of movement, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the vagina, Abnormality of vision, Amblyopia, Aniridia, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the macula, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Cerebellar hypoplasia, Chorioretinal coloboma, Congenital glaucoma, Congenital nystagmus, Contiguous gene syndrome, Corneal opacity, Cryptorchidism, Displacement of the external urethral meatus, EEG abnormality, Everted lower lip vermilion, Generalized hyperpigmentation, Glaucoma, Global developmental delay, Hearing abnormality, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Hypoplasia of the iris, Hypospadias, Intellectual disability, Keratitis, Mask-like facies, Microcephaly, Micrognathia, Motor delay, Muscular hypotonia, Nephroblastoma, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Optic disc hypoplasia, Optic nerve aplasia, Optic nerve coloboma, Optic nerve hypoplasia, Peripheral vitreous opacities, Peters anomaly, Postural tremor, Presenile cataracts, Pseudopapilledema, Ptosis, Reduced visual acuity, Retinal detachment, Scanning speech, Short stature, Slurred speech, Somatic mutation, Strabismus, Streak ovary, Visual impairment, Visual loss
IPC-div2	CENPE	0.949282129	1.11E-16	DNA binding protein	BrainSpLMD|1062	OMIM|117143;HPO|1062|Abnormality of dental enamel, Absent earlobe, Autosomal recessive inheritance, Cachexia, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Hip dysplasia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Metaphyseal sclerosis, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Partial agenesis of the corpus callosum, Prematurely aged appearance, Prominent nose, Reduced number of teeth, Round face, Sandal gap, Seizures, Short foot, Short stature, Sloping forehead, Small hand, Sparse scalp hair
IPC-div2	DLEU2	0.944991625	1.11E-16	Unclassified	BrainSpLMD|8847	OMIM|605766
IPC-div2	BTG3	0.858220801	1.11E-16	Cell cycle control protein	BrainSpLMD|10950	OMIM|605674
IPC-div2	HMGB1	0.753927297	1.11E-16	DNA binding protein	BrainSpMouseDev|15064	OMIM|163905
IPC-div2	TMEM158	1.149853659	2.22E-16	Unclassified	BrainSpLMD|25907	
IPC-div2	EXO1	2.193781395	3.33E-16	DNA exonuclease	BrainSpLMD|9156;Eurexp|euxassay_008408|anterior, bladder, cornea, epithelium, external, footplate, handplate, incisor, left lung, liver, mantle layer, marginal layer, metanephros, midgut, molar, nasal septum, naso-lacrimal duct, olfactory, pancreas, rest of mesenchyme, retina, right lung, skeletal muscle, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|606063
IPC-div2	HIST1H3C	0.598598357	3.33E-16	DNA binding protein	BrainSpLMD|8352	OMIM|602812
IPC-div2	NCAPG2	1.663318867	4.44E-16	Unclassified	BrainSpLMD|54892;Eurexp|euxassay_002384|axial muscle, epithelium, lobe, olfactory, ventricular layer	OMIM|608532
IPC-div2	DUT	1.602362054	4.44E-16	Enzyme: Hydrolase	BrainSpLMD|1854	OMIM|601266
IPC-div2	HIST1H2BK	1.061886166	4.44E-16	DNA binding protein	BrainSpLMD|85236	OMIM|615045
IPC-div2	ANP32E	0.999877034	4.44E-16	Unclassified	BrainSpLMD|81611	OMIM|609611
IPC-div2	CKAP2	0.894799571	6.66E-16	Cytoskeletal associated protein	BrainSpLMD|26586;Eurexp|euxassay_001740|thymus primordium, ventricular layer	OMIM|611569
IPC-div2	BRCA2	1.455484137	9.99E-16	Transcription regulatory protein	BrainSpLMD|675;Eurexp|euxassay_019615|ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|600185;COSMIC||breast, ovarian, pancreatic, breast, ovarian, pancreatic, leukaemia  (FANCB, FANCD1);HPO|675|Abdominal pain, Abnormality of chromosome stability, Abnormality of the fallopian tube, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone marrow hypocellularity, Breast carcinoma, Chromosomal breakage induced by crosslinking agents, Esophageal atresia, Global developmental delay, Heterogeneous, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Nephroblastoma, Ovarian neoplasm, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Somatic mutation, Thrombocytopenia, Tracheoesophageal fistula
IPC-div2	KIF2C	1.725634512	1.11E-15	Motor protein	BrainSpLMD|11004;Eurexp|euxassay_003601|4th ventricle, bladder, forebrain, hindbrain, hindlimb, incisor, limb, liver, lung, metanephros, midbrain, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pancreas, penis, pharyngo-tympanic tube, respiratory, retina, spinal cord, submandibular gland primordium, testis, thymus primordium, thyroid, tongue, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|604538
IPC-div2	TK1	1.713028329	1.55E-15	Enzyme: Phosphotransferase	BrainSpLMD|7083;Eurexp|euxassay_001974|thymus primordium	OMIM|188300
IPC-div2	AC120042.1	1.183057505	1.67E-15			
IPC-div2	NEUROG1	2.487362937	2.00E-15	Transcription regulatory protein	BrainSpLMD|4762;Eurexp|euxassay_006581|olfactory, roof plate, ventricular layer;BrainSpMouseDev|17781	OMIM|601726
IPC-div2	E2F2	1.870960837	2.55E-15	Transcription factor	BrainSpLMD|1870;BrainSpMouseDev|88998	OMIM|600426
IPC-div2	EZH2	1.119333359	3.33E-15	Transcription regulatory protein	BrainSpLMD|2146	OMIM|601573;COSMIC||DLBCL;HPO|2146|Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Absent septum pellucidum, Accelerated skeletal maturation, Autosomal dominant inheritance, Behavioral abnormality, Broad foot, Broad forehead, Broad thumb, Calcaneovalgus deformity, Camptodactyly, Camptodactyly of finger, Clinodactyly, Coxa valga, Cryptorchidism, Cutis laxa, Deep philtrum, Deep-set nails, Delayed speech and language development, Depressed nasal bridge, Diastasis recti, Dilation of lateral ventricles, Dimple chin, Downslanted palpebral fissures, Dysarthria, Dysharmonic bone age, Epicanthus, Feeding difficulties in infancy, Fine hair, Flared femoral metaphysis, Flared humeral metaphysis, Generalized hypotonia, Global developmental delay, Hoarse voice, Hydrocele testis, Hypertelorism, Hypertonia, Hypoplastic iliac wing, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Inverted nipples, Joint contracture of the hand, Joint stiffness, Kyphosis, Large hands, Limited elbow extension, Limited knee extension, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Mandibular prognathia, Metatarsus adductus, Micrognathia, Overlapping toe, Pes cavus, Prominent fingertip pads, Radial deviation of finger, Redundant skin, Retrognathia, Round face, Scoliosis, Seizures, Short fourth metatarsal, Short ribs, Slurred speech, Sparse hair, Spasticity, Strabismus, Talipes equinovarus, Tall stature, Thin nail, Umbilical hernia
IPC-div2	E2F7	1.741574232	4.11E-15	Transcription factor	BrainSpLMD|144455;Eurexp|euxassay_011832|cortex, ventricular layer;BrainSpMouseDev|32159	OMIM|612046
IPC-div2	BLM	1.988364109	4.55E-15	DNA binding protein	BrainSpLMD|641	OMIM|604610;COSMIC||leukaemia, lymphoma, skin squamous cell, other tumour types;HPO|641|Abnormality of chromosome stability, Agenesis of maxillary lateral incisor, Autosomal recessive inheritance, Azoospermia, Bronchiectasis, Cafe-au-lait spot, Chromosome breakage, Chronic lung disease, Clinodactyly of the 5th finger, Cryptorchidism, Cutaneous photosensitivity, Decreased fertility in females, Delayed skeletal maturation, Diarrhea, Dolichocephaly, Erythema, Facial telangiectasia in butterfly midface distribution, Hand polydactyly, High pitched voice, Hypertrichosis, Hypoplasia of the zygomatic bone, IgA deficiency, IgG deficiency, IgM deficiency, Intrauterine growth retardation, Leukemia, Lymphoma, Malar flattening, Microcephaly, Narrow face, Postnatal growth retardation, Prominent nose, Protruding ear, Recurrent respiratory infections, Short nose, Short stature, Sinusitis, Specific learning disability, Spotty hyperpigmentation, Spotty hypopigmentation, Squamous cell carcinoma, Syndactyly, Type II diabetes mellitus
IPC-div2	CDC45	2.390481582	5.44E-15	Cell cycle control protein	BrainSpLMD|8318;Eurexp|euxassay_006791|choroid plexus, marginal layer, ventricular layer	OMIM|603465;HPO|8318|2-3 toe syndactyly, Abnormality of epiphysis morphology, Abnormality of the ribs, Anal atresia, Anal stenosis, Anotia, Aplasia/Hypoplasia of the patella, Aplastic clavicles, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Atrial septal defect, Autosomal recessive inheritance, Bowing of the legs, Camptodactyly of finger, Choanal atresia, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Clubbing, Complete atrioventricular canal defect, Craniosynostosis, Cryptorchidism, Decreased body weight, Delayed skeletal maturation, Duodenal stenosis, Failure to thrive, Feeding difficulties, Global developmental delay, Hearing impairment, High palate, High, narrow palate, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypospadias, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Micropenis, Microtia, Microtia, third degree, Myopia, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Preaxial polydactyly, Progressive microcephaly, Proptosis, Pulmonary hypoplasia, Respiratory distress, Respiratory failure, Retrognathia, Sagittal craniosynostosis, Scoliosis, Severe short stature, Short stature, Slender long bone, Strabismus, Thin eyebrow, Urethral stricture, Ventricular septal defect, Vesicoureteral reflux, Wide anterior fontanel
IPC-div2	POLQ	1.839175912	5.88E-15	DNA polymerase	BrainSpLMD|10721	OMIM|604419;COSMIC||oral SCC, breast cancer
IPC-div2	TUBA1B	1.341754467	6.44E-15	Structural protein	BrainSpLMD|10376	OMIM|602530
IPC-div2	SYNE2	0.821025534	6.66E-15	Cytoskeletal protein	BrainSpLMD|23224;Eurexp|euxassay_010927|cochlea, metanephros, pericardial cavity, peritoneal cavity, renal/urinary system, utricle, ventricular layer	OMIM|608442;HPO|23224|Arrhythmia, Autosomal dominant inheritance, Cardiomyopathy, Childhood onset, Elevated serum creatine phosphokinase, Muscular dystrophy, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Respiratory insufficiency
IPC-div2	EEF1A1P19	2.270937648	8.88E-15			
IPC-div2	MAD2L1	1.225652773	1.13E-14	Cell cycle control protein	BrainSpLMD|4085	OMIM|601467
IPC-div2	KIF22	1.117792778	1.18E-14	DNA binding protein	BrainSpLMD|3835	OMIM|603213;HPO|3835|Abnormal calcification of the carpal bones, Abnormality of the patella, Abnormality of the sacrum, Anteverted nares, Autosomal dominant inheritance, Broad distal phalanx of finger, Carpal bone hypoplasia, Caudal interpedicular narrowing, Congenital hip dislocation, Delayed patellar ossification, Delayed phalangeal epiphyseal ossification, Depressed nasal bridge, Dislocated radial head, Enlarged thorax, Flared metaphysis, Flat capital femoral epiphysis, Frontal bossing, Generalized hypotonia, Genu valgum, Global developmental delay, Hip dislocation, Hypoplasia of the capital femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Joint laxity, Kyphosis, Large joint dislocations, Laryngeal stenosis, Laryngotracheomalacia, Long distal phalanx of finger, Long proximal phalanx of finger, Macrocephaly, Malar flattening, Metaphyseal irregularity, Micromelia, Midface retrusion, Nail dysplasia, Narrow femoral neck, Osteoarthritis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Short nose, Short stature, Skeletal dysplasia, Slender distal phalanx of finger, Slender metacarpals, Slender proximal phalanx of finger, Small epiphyses, Soft skin, Spinal dysraphism, Spondyloepimetaphyseal dysplasia, Streaky metaphyseal sclerosis, Wide nose
IPC-div2	HIST1H3I	0.4976253	2.09E-14	DNA binding protein	BrainSpLMD|8354	OMIM|602814
IPC-div2	RACGAP1	1.580089362	2.11E-14	GTPase activating protein	BrainSpLMD|29127;Eurexp|euxassay_005572|dorsal grey horn, ventricular layer	OMIM|604980
IPC-div2	HIST1H4I	0.941658471	2.26E-14	DNA binding protein	BrainSpLMD|8294;Eurexp|euxassay_005924|embryo	OMIM|602833;COSMIC||NHL
IPC-div2	MCM2	2.152238629	2.43E-14	DNA binding protein	BrainSpLMD|4171;Eurexp|euxassay_009158|brain, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nerve, sensory organ, spinal cord, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|116945;HPO|4171|Autosomal dominant inheritance, Progressive sensorineural hearing impairment, Slow progression, Variable expressivity
IPC-div2	HIST1H1E	1.762677013	2.45E-14	DNA binding protein	BrainSpLMD|3008;Eurexp|euxassay_005923|embryo	OMIM|142220;HPO|3008|Accelerated skeletal maturation, Amblyopia, Astigmatism, Autosomal dominant inheritance, Camptodactyly, Full cheeks, Global developmental delay, Hypertonia, Intellectual disability, Kyphoscoliosis, Macrocephaly, Neonatal hypotonia, Nevus, Strabismus, Talipes equinovarus, Telecanthus
IPC-div2	TIMELESS	1.839065207	3.81E-14	Transcription regulatory protein	BrainSpLMD|8914	OMIM|603887
IPC-div2	NFIC	1.585893092	4.63E-14	Transcription factor	BrainSpLMD|4782;Eurexp|euxassay_008959|mesenchyme;BrainSpMouseDev|17796	OMIM|600729
IPC-div2	MMS22L	1.14423684	4.64E-14	Unclassified	BrainSpLMD|253714	OMIM|615614
IPC-div2	FEN1	1.533051664	4.76E-14	Deoxyribonuclease	BrainSpLMD|2237	OMIM|600393;COSMIC||breast cancer
IPC-div2	WDHD1	0.566204784	5.61E-14	DNA binding protein	BrainSpLMD|11169;Eurexp|euxassay_012406|submandibular gland primordium, thymus primordium, ventricular layer;BrainSpMouseDev|85441	OMIM|608126
IPC-div2	ASPM	0.593051848	6.22E-14	Unclassified	BrainSpLMD|259266	SFARI||Autism, 3 - Suggestive evidence;OMIM|605481;HPO|259266|Abnormal cortical bone morphology, Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Congenital onset, Cortical gyral simplification, Delayed speech and language development, Global developmental delay, Heterotopia, Highly arched eyebrow, Hyperreflexia, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Motor delay, Narrow forehead, Pachygyria, Proptosis, Short stature, Sloping forehead, Small cerebral cortex, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
IPC-div2	PRDX1	0.921528583	8.05E-14	Enzyme: Peroxidase	BrainSpLMD|5052	OMIM|176763
IPC-div2	BARD1	1.358021956	9.87E-14	Transcription regulatory protein	BrainSpLMD|580	OMIM|601593;COSMIC||breast cancer, ovarian cancer, breast cancer, endometrioid cancer;HPO|580|Abnormality of the fallopian tube, Breast carcinoma, Ovarian neoplasm, Primary peritoneal carcinoma
IPC-div2	GINS2	1.530534683	1.10E-13	Unclassified	BrainSpLMD|51659	OMIM|610609
IPC-div2	ORC1	3.205787108	1.12E-13	DNA binding protein	BrainSpLMD|4998	OMIM|601902;HPO|4998|Abnormality of epiphysis morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the ribs, Absent glenoid fossa, Absent sternal ossification, Anotia, Aplasia/Hypoplasia of the patella, Aplastic clavicles, Atresia of the external auditory canal, Autosomal recessive inheritance, Birth length less than 3rd percentile, Blepharophimosis, Breast hypoplasia, Breech presentation, Camptodactyly, Camptodactyly of finger, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Craniosynostosis, Cryptorchidism, Cutaneous finger syndactyly, Delayed skeletal maturation, Elbow dislocation, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat glenoid fossa, Frontal bossing, Gastroesophageal reflux, Genu valgum, Genu varum, Hearing impairment, Hemivertebrae, Heterogeneous, High palate, High, narrow palate, Hyperconvex nail, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Incomplete partition of the cochlea type II, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Joint hyperflexibility, Joint laxity, Lateral clavicle hook, Long eyelashes, Low-set ears, Mandibular aplasia, Microcephaly, Microdontia, Micrognathia, Micropenis, Microtia, Microtia, third degree, Narrow mouth, Patellar aplasia, Pectus carinatum, Posteriorly rotated ears, Respiratory distress, Respiratory failure, Retrognathia, Severe short stature, Shawl scrotum, Short palm, Short palpebral fissure, Short ribs, Slender long bone, Small anterior fontanelle, Small for gestational age, Small hand, Strabismus, Talipes equinovarus, Thick lower lip vermilion, Thin ribs, Thin skin
IPC-div2	ANLN	1.477897653	1.17E-13	Structural protein	BrainSpLMD|54443;Eurexp|euxassay_004352|ventricular layer	OMIM|616027;HPO|54443|Autosomal dominant inheritance, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease
IPC-div2	MCM8	2.062597796	1.23E-13	DNA binding protein	BrainSpLMD|84515;Eurexp|euxassay_005154|brain, central nervous system, incisor, lung, metanephros, molar, olfactory, retina, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, tongue, vibrissa	OMIM|608187;HPO|84515|Autosomal recessive inheritance, Azoospermia, Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Hypothyroidism, Premature ovarian insufficiency, Primary amenorrhea
IPC-div2	ORC6	1.555008737	1.53E-13	DNA binding protein	BrainSpLMD|23594;Eurexp|euxassay_007673|cortex, incisor, left, mandible, molar, right, submandibular gland primordium, ventricular layer	OMIM|607213;HPO|23594|Abnormality of epiphysis morphology, Abnormality of the ribs, Absent sternal ossification, Anotia, Aplasia/Hypoplasia of the patella, Aplastic clavicles, Atresia of the external auditory canal, Autosomal recessive inheritance, Birth length less than 3rd percentile, Breast hypoplasia, Bronchomalacia, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Coxa vara, Craniosynostosis, Cryptorchidism, Delayed skeletal maturation, Downslanted palpebral fissures, Dyspnea, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Genu varum, High, narrow palate, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypospadias, Intrauterine growth retardation, Joint hyperflexibility, Laryngomalacia, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Micropenis, Microretrognathia, Microtia, Microtia, third degree, Narrow chest, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Prominent nasal bridge, Recurrent pneumonia, Respiratory distress, Respiratory failure, Retrognathia, Scrotal hypoplasia, Severe short stature, Short ribs, Short thorax, Slender long bone, Talipes equinovarus, Thick lower lip vermilion, Tracheomalacia, Triangular face
IPC-div2	CCND2	0.982049419	1.66E-13	Cell cycle control protein	BrainSpLMD|894	OMIM|123833;COSMIC||NHL, CLL;HPO|894|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Congenital onset, Depressed nasal bridge, Global developmental delay, High forehead, Hydrocephalus, Hypertelorism, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Prominent forehead, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
IPC-div2	MCM7	1.057742636	1.75E-13	Unclassified;DNA helicase	BrainSpLMD|4176;Eurexp|euxassay_018019|embryo	OMIM|600592
IPC-div2	FANCB	1.678702423	2.02E-13	Unclassified	BrainSpLMD|2187	OMIM|300515;HPO|2187|Abnormal vertebral morphology, Abnormality of cardiovascular system morphology, Abnormality of chromosome stability, Abnormality of the optic nerve, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anal atresia, Anemia, Aplasia/Hypoplasia of the radius, Aqueductal stenosis, Atrioventricular canal defect, Enlarged kidney, Esophageal atresia, Global developmental delay, Growth delay, Hand polydactyly, Hemivertebrae, Hydrocephalus, Hydronephrosis, Hypopigmented skin patches, Hypoplasia of the radius, Intellectual disability, Intrauterine growth retardation, Irregular hyperpigmentation, Leukopenia, Low-set ears, Microcephaly, Microcornea, Phenotypic variability, Polyhydramnios, Proximal placement of thumb, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Scoliosis, Short humerus, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula, Transposition of the great arteries, Urethral atresia, Ventriculomegaly, X-linked recessive inheritance
IPC-div2	PLK4	1.925012033	2.03E-13	Serine/threonine kinase	BrainSpLMD|10733;Eurexp|euxassay_003979|Meckel's cartilage, clavicle, cranium, rib, turbinate	OMIM|605031;HPO|10733|Abnormality of dental enamel, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the eyelashes, Absent earlobe, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Autosomal recessive inheritance, Biparietal narrowing, Cachexia, Cataract, Cerebellar atrophy, Cerebral atrophy, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital onset, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Hip dysplasia, Hypertonia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Mild global developmental delay, Narrow face, Nystagmus, Optic atrophy, Pointed chin, Prematurely aged appearance, Protruding ear, Reduced number of teeth, Sandal gap, Scoliosis, Seizures, Short stature, Sloping forehead, Sparse scalp hair, Strabismus, Visual impairment, Wide nasal bridge
IPC-div2	CKS2	0.588609544	2.13E-13	Cell cycle control protein	BrainSpLMD|1164	OMIM|116901
IPC-div2	DNAJC9	2.012424602	2.41E-13	Chaperone	BrainSpLMD|23234;Eurexp|euxassay_001729|ventricular layer	OMIM|611206
IPC-div2	NUF2	2.061430421	2.48E-13	Cytoskeletal associated protein;Cell cycle control protein	BrainSpLMD|83540	OMIM|611772
IPC-div2	RNASEH2A	1.964227105	2.52E-13	Ribonuclease	BrainSpLMD|10535	OMIM|606034;HPO|10535|Arrhinencephaly, Autosomal recessive inheritance, CSF lymphocytic pleiocytosis, Cerebellar atrophy, Cerebral atrophy, Cerebral calcification, Cleft eyelid, Convex nasal ridge, Death in childhood, Dystonia, Elevated hepatic transaminases, Feeding difficulties, Hemiplegia/hemiparesis, Hepatomegaly, Hepatosplenomegaly, Hydrocephalus, Infantile onset, Intellectual disability, profound, Intrauterine growth retardation, Leukodystrophy, Low-set ears, Pancytopenia, Porencephalic cyst, Progressive microcephaly, Severe global developmental delay, Spasticity, Splenomegaly, Thrombocytopenia, Ventriculomegaly
IPC-div2	DNMT1	1.242601703	2.81E-13	DNA methyltransferase	BrainSpLMD|1786;BrainSpMouseDev|13212	OMIM|126375;HPO|1786|Adult onset, Apathy, Ataxia, Autosomal dominant inheritance, Cataplexy, Cerebellar atrophy, Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers, Dementia, Depressivity, Excessive daytime sleepiness, Excessive daytime somnolence, Hyperreflexia, Hyporeflexia, Impulsivity, Irritability, Memory impairment, Narcolepsy, Osteomyelitis, Primitive reflex, Progressive, Sensorineural hearing impairment, Sensory neuropathy, Spasticity
IPC-div2	CDC25C	1.443393346	3.01E-13	Dual specificity phosphatase	BrainSpLMD|995	OMIM|157680
IPC-div2	AURKB	1.661642003	3.41E-13	Serine/threonine kinase	BrainSpLMD|9212	OMIM|604970
IPC-div2	USP1	0.818038067	5.42E-13	Ubiquitin proteasome system protein	BrainSpLMD|7398	OMIM|603478
IPC-div2	ECT2	1.503551852	5.80E-13	Guanine nucleotide exchange factor	BrainSpLMD|1894;Eurexp|euxassay_018792|marginal layer, ventricular layer	OMIM|600586
IPC-div2	DLGAP5	0.888543828	6.77E-13	Cell cycle control protein	BrainSpLMD|9787	
IPC-div2	CKS1B	1.355375659	6.91E-13	Cell cycle control protein		OMIM|116900
IPC-div2	CCNE2	1.544457821	7.05E-13	Cell cycle control protein	BrainSpLMD|9134	OMIM|603775
IPC-div2	CHEK1	1.330159791	8.96E-13	Serine/threonine kinase	BrainSpLMD|1111	OMIM|603078
IPC-div2	H2AFY	1.256145131	9.72E-13	DNA binding protein	BrainSpLMD|9555	OMIM|610054
IPC-div2	IVNS1ABP	1.0766897	1.16E-12	Unclassified	BrainSpLMD|10625;Eurexp|euxassay_011634|axial muscle, axial skeleton, cervical, cervico-thoracic, clavicle, cochlea, corpus striatum, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lateral ventricle, lip, lung, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, molar, neural retina, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, pituitary, renal/urinary system, saccule, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trachea, trigeminal V, ventricle, ventricular layer, vibrissa	OMIM|609209
IPC-div2	RTKN2	1.68711308	1.41E-12	Unclassified	BrainSpLMD|219790	
IPC-div2	ZGRF1	1.480642043	1.55E-12	Unclassified	BrainSpLMD|55345;Eurexp|euxassay_012482|ventricular layer	
IPC-div2	DHFRP1	1.904581511	1.60E-12			
IPC-div2	KIF11	1.130936395	1.66E-12	Motor protein	BrainSpLMD|3832	OMIM|148760;HPO|3832|Abnormal toenail morphology, Abnormality of retinal pigmentation, Anteverted nares, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Broad nasal tip, Chorioretinal dysplasia, Cortical gyral simplification, Deep philtrum, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Flat occiput, Global developmental delay, Intellectual disability, Intellectual disability, mild, Leukonychia, Long philtrum, Lymphedema, Mandibular prognathia, Melanonychia, Microcephaly, Muscular hypotonia, Myopia, Protruding ear, Sloping forehead, Specific learning disability, Thick lower lip vermilion, Thin upper lip vermilion
IPC-div2	KIF24	2.162220583	1.87E-12	Motor protein	BrainSpLMD|347240	OMIM|613747
IPC-div2	HIST1H2BL	1.833910912	1.93E-12	DNA binding protein		OMIM|602800
IPC-div2	ATAD5	1.253633197	1.95E-12	DNA repair protein	BrainSpLMD|79915;Eurexp|euxassay_013782|cortex, liver, metanephros, ventricular layer	OMIM|609534
IPC-div2	NEDD1	1.290519225	2.02E-12	Unclassified	BrainSpLMD|121441;Eurexp|euxassay_017529|ventricular layer	OMIM|600372
IPC-div2	POLD3	0.8485921	2.40E-12	DNA polymerase	BrainSpLMD|10714;Eurexp|euxassay_007336|embryo	OMIM|611415
IPC-div2	DNA2	1.104752977	2.45E-12	DNA helicase		OMIM|601810;HPO|1763|Autosomal dominant inheritance, Autosomal recessive inheritance, Convex nasal ridge, Ectopic kidney, Elevated serum creatine phosphokinase, Exercise intolerance, Exertional dyspnea, Facial palsy, Gait disturbance, Generalized amyotrophy, Global developmental delay, Gowers sign, Intellectual disability, Kyphoscoliosis, Limb-girdle muscle weakness, Microcephaly, Micrognathia, Muscle cramps, Myalgia, Progressive external ophthalmoplegia, Ptosis, Short stature, Slender build, Slow progression, Spinal cord compression
IPC-div2	FBXO5	1.339691096	2.75E-12	Cell cycle control protein	BrainSpLMD|26271;Eurexp|euxassay_012335|marginal layer, ventricular layer	OMIM|606013
IPC-div2	H2AFV	0.989808875	3.04E-12	DNA binding protein	BrainSpLMD|94239;Eurexp|euxassay_010704|metanephros, ventricular layer	
IPC-div2	BICC1	0.736645825	3.29E-12	RNA binding protein	BrainSpLMD|80114	OMIM|614295
IPC-div2	HMGN2P6	0.536421721	4.16E-12			
IPC-div2	INSM1	1.380780004	4.21E-12	Transcription factor	BrainSpLMD|3642;Eurexp|euxassay_019598|adrenal gland, mantle layer, marginal layer, neural retina, olfactory, pancreas, ventricular layer, vomeronasal organ;BrainSpMouseDev|32944	OMIM|600010
IPC-div2	CNTLN	1.163860414	5.71E-12	Unclassified	BrainSpLMD|54875	OMIM|611870
IPC-div2	CEP152	1.266263375	5.95E-12	Unclassified	Eurexp|euxassay_011313|axial skeleton, basioccipital bone, choroid invagination, choroid plexus, epithelium, femur, humerus, inner ear, olfactory, pelvic girdle, pituitary, roof plate, scapula, vomeronasal organ	OMIM|613529;HPO|22995|Abnormal cortical bone morphology, Abnormal cortical gyration, Abnormality of dental enamel, Absent earlobe, Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Bimanual synkinesia, Cachexia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Heterotopia, High palate, Hip dysplasia, Hyperreflexia, Hypodontia, Hypoplasia of the frontal lobes, Impulsivity, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint hyperflexibility, Large beaked nose, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Oligodontia, Pachygyria, Prematurely aged appearance, Prominent nasal bridge, Reduced number of teeth, Retrognathia, Sandal gap, Short stature, Sloping forehead, Sparse scalp hair, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
IPC-div2	GEN1	1.356005395	7.12E-12	DNA binding protein	BrainSpLMD|348654	OMIM|612449
IPC-div2	HJURP	0.873390956	8.69E-12	Unclassified	BrainSpLMD|55355	OMIM|612667
IPC-div2	ARHGAP11A	1.598127146	8.92E-12	GTPase activating protein	BrainSpLMD|9824;Eurexp|euxassay_018145|excretory component, hindgut, incisor, mantle layer, marginal layer, meninges, midgut, molar, neural retina, olfactory, stomach, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|610589
IPC-div2	C3orf70	0.505075041	8.98E-12	Unclassified	Eurexp|euxassay_013634|dorsal grey horn, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa	
IPC-div2	ITGB3BP	1.32160395	9.12E-12	Transcription regulatory protein	BrainSpLMD|23421	OMIM|605494
IPC-div2	ZNF726	1.992131266	9.56E-12			
IPC-div2	RP5.1099D15.1	1.359728802	1.13E-11			
IPC-div2	KIF23	1.182200636	1.20E-11	Motor protein	BrainSpLMD|9493;Eurexp|euxassay_006188|incisor, lung, mantle layer, marginal layer, olfactory, submandibular gland primordium, thymus primordium, thyroid, ventricular layer	OMIM|605064;HPO|9493|Abnormal cellular phenotype, Abnormal proerythroblast morphology, Anemia, Anisocytosis, Fatigue, Hyperbilirubinemia, Increased mean corpuscular volume, Increased serum iron, Increased total iron binding capacity, Poikilocytosis
IPC-div2	DSN1	1.840708069	1.36E-11	Unclassified	BrainSpLMD|79980;Eurexp|euxassay_001983|ventricular layer	OMIM|609175
IPC-div2	STON2	1.509212053	1.36E-11	Unclassified	BrainSpLMD|85439	OMIM|608467
IPC-div2	FAM111B	1.619683142	1.37E-11	Unclassified	BrainSpLMD|374393	OMIM|615584;HPO|374393|Alopecia, Autosomal dominant inheritance, Elevated serum creatine phosphokinase, Hepatomegaly, Hypohidrosis, Poikiloderma, Skeletal muscle atrophy
IPC-div2	SSTR2	1.030931092	1.39E-11	G protein coupled receptor	BrainSpLMD|6752;BrainSpMouseDev|20368	OMIM|182452
IPC-div2	CDCA2	0.879608838	1.41E-11	Unclassified	BrainSpLMD|157313;Eurexp|euxassay_000111|cortex, marginal layer, metanephros, midbrain, thalamus, ventricular layer	
IPC-div2	NCAPH	1.511988185	1.43E-11	Cell cycle control protein	BrainSpLMD|23397;Eurexp|euxassay_002558|ventricular layer	OMIM|602332
IPC-div2	XRCC2	1.117257165	1.44E-11	DNA binding protein	BrainSpLMD|7516	OMIM|600375;HPO|7516|Abnormality of chromosome stability, Absent scaphoid, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Global developmental delay, Growth delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Patent ductus arteriosus, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia
IPC-div2	TMSB4X	0.507880982	1.64E-11	Cytoskeletal associated protein		OMIM|300159
IPC-div2	POLE2	1.262737492	1.70E-11	DNA polymerase	BrainSpLMD|5427;Eurexp|euxassay_006546|choroid invagination, choroid plexus, diaphragm, extrinsic, intrinsic, mesenchyme, paraxial mesenchyme, roof plate, vertebral axis muscle system	OMIM|602670
IPC-div2	KIF4A	1.245850247	1.76E-11	DNA binding protein	BrainSpLMD|24137;Eurexp|euxassay_017959|Meckel's cartilage, chondrocranium, incisor, nasal capsule	OMIM|300521;HPO|24137|Abnormal facial shape, Intellectual disability, Poor speech, Seizures, X-linked recessive inheritance
IPC-div2	MCM4	1.502236883	1.78E-11	DNA binding protein	BrainSpLMD|4173	SFARI||Autism, 4 - Minimal evidence;OMIM|602638;HPO|4173|Adrenal insufficiency, Autosomal recessive inheritance, Global developmental delay, Hepatomegaly, Intrauterine growth retardation, Lymphadenopathy, Lymphoproliferative disorder, Microcephaly, Postnatal growth retardation, Recurrent respiratory infections, Recurrent viral infections, Splenomegaly
IPC-div2	PGRMC2	0.685549591	2.06E-11	Integral membrane protein	BrainSpLMD|10424;Eurexp|euxassay_007705|facial VII, mantle layer, pharyngo-tympanic tube, submandibular gland primordium, trigeminal V, vagus X;BrainSpMouseDev|46645	OMIM|607735
IPC-div2	EZR	0.304607679	2.07E-11	Anchor protein	BrainSpLMD|7430;Eurexp|euxassay_018306|axial skeleton, calyces, choroid plexus, cochlea, dorsal root ganglion, epidermis, epithelium, fundus region, hindgut, incisor, larynx, lens, lobe, lung, marginal layer, midgut, molar, oesophagus, oral epithelium, pelvis, penis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, rib, saccule, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricle, ventricular layer, vibrissa	OMIM|123900;COSMIC||NSCLC
IPC-div2	RBL1	0.786472898	2.30E-11	Cell cycle control protein	BrainSpLMD|5933	OMIM|116957
IPC-div2	LHX2	0.596857418	2.38E-11	Transcription regulatory protein	BrainSpLMD|9355;BrainSpMouseDev|16641	OMIM|603759
IPC-div2	MND1	1.869425942	2.58E-11	Unclassified	BrainSpLMD|84057	OMIM|611422
IPC-div2	C21orf58	1.933660688	2.76E-11	Unclassified	BrainSpLMD|54058	
IPC-div2	GTSE1	1.478299789	2.92E-11	Unclassified	BrainSpLMD|51512	OMIM|607477
IPC-div2	IGFBPL1	1.695451139	3.16E-11	Unclassified		OMIM|610413
IPC-div2	MNS1	1.598331027	3.21E-11	Structural protein	BrainSpLMD|55329	OMIM|610766
IPC-div2	SPAG5	1.048998227	3.55E-11	Cytoskeletal associated protein	BrainSpLMD|10615	OMIM|615562
IPC-div2	SHCBP1	1.312372036	3.80E-11	Unclassified	BrainSpLMD|79801;Eurexp|euxassay_006012|submandibular gland primordium, ventricular layer	OMIM|611027
IPC-div2	TACC3	1.734468694	3.96E-11	Cell cycle control protein	BrainSpLMD|10460;Eurexp|euxassay_003324|marginal layer, nucleus pulposus, optic chiasma, optic stalk, submandibular gland primordium, ventral grey horn, ventricular layer	OMIM|605303
IPC-div2	CORO1C	0.964037185	4.03E-11	Cytoskeletal associated protein	BrainSpLMD|23603	OMIM|605269
IPC-div2	KIAA1524	1.386162187	4.52E-11			
IPC-div2	DEK	1.127684122	4.81E-11	DNA binding protein	BrainSpLMD|7913	OMIM|125264;COSMIC||AML
IPC-div2	CENPW	1.39850695	5.07E-11	Unclassified	Eurexp|euxassay_006383|roof plate, telencephalic part of interventricular foramen, thalamus	OMIM|611264
IPC-div2	SNRPB	1.100804696	5.19E-11	RNA binding protein	BrainSpLMD|6628	OMIM|182282;HPO|6628|11 pairs of ribs, Abnormality of the dentition, Anomalous rib insertion to vertebrae, Anomalous tracheal cartilage, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Calcaneal epiphyseal stippling, Cleft palate, Cleft soft palate, Clinodactyly of the 5th finger, Conductive hearing impairment, Congenital hip dislocation, Death in infancy, Ectopic kidney, Elbow flexion contracture, Epicanthus, Feeding difficulties, Gastroesophageal reflux, Glossoptosis, High palate, Horseshoe kidney, Intellectual disability, Intrauterine growth retardation, Kyphosis, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Nasal speech, Neonatal respiratory distress, Patent ductus arteriosus, Polyhydramnios, Porencephalic cyst, Posterior rib gap, Posteriorly rotated ears, Postnatal growth retardation, Renal cyst, Scoliosis, Short hard palate, Short humerus, Short stature, Thoracic hypoplasia, Tracheomalacia, Ventricular septal defect, Webbed neck
IPC-div2	FAM64A	1.520490906	5.94E-11			
IPC-div2	CENPM	2.014747027	6.73E-11	Unclassified	BrainSpLMD|79019	OMIM|610152
IPC-div2	PKM	1.093247597	6.89E-11	Enzyme: Phosphotransferase	BrainSpLMD|5315	OMIM|179050
IPC-div2	LDHB	0.540216433	7.49E-11	Enzyme: Dehydrogenase	BrainSpLMD|3945	OMIM|150100
IPC-div2	SGOL2	0.533280445	7.91E-11			
IPC-div2	TFDP2	1.141004907	7.96E-11	Transcription factor	BrainSpLMD|7029;Eurexp|euxassay_009223|liver, marginal layer, nasal capsule, neural retina, olfactory, ventricular layer;BrainSpMouseDev|84320	OMIM|602160
IPC-div2	LRR1	1.597666967	8.39E-11	Unclassified	BrainSpLMD|122769	OMIM|609193
IPC-div2	BUB1	0.983236437	8.42E-11	Serine/threonine kinase	BrainSpLMD|699;Eurexp|euxassay_018012|3rd ventricle, 4th ventricle, adrenal gland, cochlea, cochlear duct, cortex, foregut-midgut junction, incisor, liver, liver and biliary system, loop, lung, metanephros, midgut, molar, naris, pancreas, penis, retina, rib, submandibular gland primordium, testis, thymus primordium, tongue, turbinate bones, ventricular layer, vibrissa	OMIM|602452;HPO|699|Abnormality of vision, Ascites, Cataract, Corneal opacity, Dandy-Walker malformation, Epicanthus, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Polyhydramnios, Short stature, Triangular face
IPC-div2	TUBG1	1.628164796	8.73E-11	Cytoskeletal protein	BrainSpLMD|7283	OMIM|191135;HPO|7283|Autosomal dominant inheritance, Cortical dysplasia, Global developmental delay, Microcephaly, Seizures, Variable expressivity
IPC-div2	SLC20A1	1.06105713	8.88E-11	Membrane transport protein	BrainSpLMD|6574;Eurexp|euxassay_009182|brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, liver, marginal layer, metanephros, midgut, primitive seminiferous tubules, spinal cord, submandibular gland primordium, thoracic, trigeminal V, vagus X	OMIM|137570
IPC-div2	BUB1B	1.315315646	9.26E-11	Serine/threonine kinase	BrainSpLMD|701;Eurexp|euxassay_018755|cortex, ear, hindgut, incisor, lobe, lung, mandible, marginal layer, maxilla, midgut, molar, neural retina, oesophagus, olfactory, orbito-sphenoid, pancreas, rectum, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, trachea, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ, wall	OMIM|602860;COSMIC||rhabdomyosarcoma;HPO|701|Abnormality of vision, Agenesis of corpus callosum, Ambiguous genitalia, Anteverted nares, Ascites, Autosomal recessive inheritance, Bifid scrotum, Brachycephaly, Cataract, Cerebellar hypoplasia, Cerebral hypoplasia, Cleft palate, Combined immunodeficiency, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Epicanthus, Feeding difficulties in infancy, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Glaucoma, Global developmental delay, Hereditary nonpolyposis colorectal carcinoma, High forehead, Hydrocephalus, Hypertelorism, Hypodysplasia of the corpus callosum, Hypospadias, Increased nuchal translucency, Intellectual disability, Intellectual disability, profound, Intrauterine growth retardation, Leukemia, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Muscular dystrophy, Neoplasm of the stomach, Nephroblastoma, Nystagmus, Oligohydramnios, Phenotypic variability, Polyhydramnios, Posteriorly rotated ears, Postnatal growth retardation, Premature chromatid separation, Renal cell carcinoma, Renal cyst, Rhabdomyosarcoma, Severe global developmental delay, Short neck, Short nose, Short stature, Short sternum, Small for gestational age, Transitional cell carcinoma of the bladder, Triangular face, Triangular mouth, Upslanted palpebral fissure, Uterine leiomyosarcoma, Ventriculomegaly, Wide nose
IPC-div2	RP11.673C5.1	0.9945054	9.63E-11			
IPC-div2	PHIP	0.517999601	9.77E-11	Ligand	BrainSpLMD|55023	SFARI||Autism, 4 - Minimal evidence;OMIM|612870
IPC-div2	HADH	1.293849373	9.83E-11	Enzyme: Dehydrogenase	BrainSpLMD|3033;Eurexp|euxassay_018543|adrenal gland, liver, lung, midgut, orbito-sphenoid, stomach, sublingual gland primordium, testis, thymus primordium, thyroid, trachea, turbinate, ventricular layer	OMIM|601609;HPO|3033|Abnormality of acetylcarnitine metabolism, Autosomal recessive inheritance, Confusion, Decreased activity of 3-hydroxyacyl-CoA dehydrogenase, Diarrhea, Dicarboxylic aciduria, Dilated cardiomyopathy, Elevated hepatic transaminases, Fasting hyperinsulinemia, Feeding difficulties in infancy, Fulminant hepatic failure, Growth delay, Hepatic necrosis, Hepatic steatosis, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, Hypoglycemic coma, Hypoglycemic encephalopathy, Hypoglycemic seizures, Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level, Intellectual disability, Intrauterine growth retardation, Lethargy, Muscular hypotonia, Myoglobinuria, Neonatal hypoglycemia, Neonatal hypotonia, Phenotypic variability, Proportionate short stature, Vomiting
IPC-div2	MAGI1	1.161788676	9.99E-11	Cell junction protein	BrainSpLMD|9223;Eurexp|euxassay_016214|axial skeleton, clavicle, femur, fibula, humerus, pelvic girdle, rib, scapula, tibia	OMIM|602625
IPC-div2	STXBP6	2.318370265	1.06E-10	Unclassified	BrainSpLMD|29091;Eurexp|euxassay_006760|axial skeleton, cortex, digit 1, digit 2, digit 3, digit 4, digit 5, femur, fibula, mantle layer, oesophagus, olfactory, paraxial mesenchyme, penis, rectum, tegmentum, tibia, ventricular layer, vibrissa;BrainSpMouseDev|85214	OMIM|607958
IPC-div2	SMC1A	0.852035748	1.16E-10	Cell cycle control protein	BrainSpLMD|8243	SFARI||Autism, No category;OMIM|300040;COSMIC||AML, Cornelia de Lange syndrome;HPO|8243|Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Brachydactyly, Clinodactyly, Clinodactyly of the 5th finger, Cognitive impairment, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downslanted palpebral fissures, Downturned corners of mouth, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hirsutism, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Limited elbow movement, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Narrow forehead, Neurological speech impairment, Obsessive-compulsive behavior, Phthisis bulbi, Poor speech, Premature birth, Prominent nasal bridge, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Smooth philtrum, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Ventriculomegaly, Vesicoureteral reflux, Widely spaced teeth, X-linked dominant inheritance, X-linked recessive inheritance
IPC-div2	NFIA	0.566960488	1.17E-10	Transcription factor	BrainSpLMD|4774;BrainSpMouseDev|17794	SFARI||Autism, 4 - Minimal evidence;OMIM|600727;HPO|4774|Agenesis of corpus callosum, Anteverted nares, Arnold-Chiari type I malformation, Broad face, Broad forehead, Cognitive impairment, Cutis marmorata, Generalized hypotonia, Global developmental delay, Hydronephrosis, Hypoplasia of the corpus callosum, Inguinal hernia, Intellectual disability, Low-set ears, Macrocephaly, Narrow mouth, Phenotypic variability, Renal hypoplasia, Seizures, Short chin, Short nose, Sporadic, Syringomyelia, Thin upper lip vermilion, Ventriculomegaly, Vesicoureteral reflux
IPC-div2	SNRPG	1.258695178	1.21E-10	Ribonucleoprotein	Eurexp|euxassay_001471|cervical, cervico-thoracic, cortex, thoracic, thymus primordium, ventricular layer	OMIM|603542
IPC-div2	HNRNPA2B1	0.489212997	1.48E-10	Ribonucleoprotein;RNA binding protein	BrainSpLMD|3181	OMIM|600124;COSMIC||prostate;HPO|3181|Abnormality of the skeletal system, Behavioral abnormality, Centrally nucleated skeletal muscle fibers, Elevated serum creatine phosphokinase, Frontotemporal dementia, Muscle fiber atrophy, Muscular dystrophy, Myopathy, Myositis, Skeletal muscle atrophy
IPC-div2	CHAF1A	0.914274176	1.53E-10	Chaperone	BrainSpLMD|10036	OMIM|601246
IPC-div2	SNRPGP2	1.088681449	1.81E-10			
IPC-div2	SMOC1	1.642544681	1.81E-10	Extracellular matrix protein;Calcium binding protein	BrainSpLMD|64093;Eurexp|euxassay_003378|aorta, axial muscle, axial skeleton, cochlea, dorsal grey horn, hyoid bone, mantle layer, marginal layer, medulla, medullary region, meninges, mesenchyme, metatarsus, naris, nasal septum, pancreas, phalanx, saccule, thyroid, turbinate bones, ventral grey horn, ventricle, ventricular layer	OMIM|608488;HPO|64093|Abnormal form of the vertebral bodies, Abnormality of the cardiovascular system, Abnormality of the eyebrow, Abnormality of the hair, Abnormality of the metacarpal bones, Anophthalmia, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Blepharophimosis, Camptodactyly of 2nd-5th fingers, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Deep philtrum, Depressed nasal bridge, Downslanted palpebral fissures, Failure to thrive, Fibular hypoplasia, Finger syndactyly, Flared nostrils, Foot oligodactyly, Frontal bossing, Fused fourth and fifth metacarpals, Hand oligodactyly, High palate, Hip dislocation, Hypoplasia of the maxilla, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Large earlobe, Low-set ears, Low-set, posteriorly rotated ears, Microphthalmia, Optic atrophy, Postaxial foot polydactyly, Postaxial hand polydactyly, Posteriorly rotated ears, Postnatal growth retardation, Prominent forehead, Retrognathia, Sandal gap, Short nose, Short palpebral fissure, Short stature, Short tibia, Single transverse palmar crease, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Tibial bowing, Toe syndactyly, True anophthalmia
IPC-div2	GINS1	1.14405936	2.01E-10	Unclassified	BrainSpLMD|9837	OMIM|610608
IPC-div2	ZNF367	1.757096376	2.21E-10	DNA binding protein	BrainSpLMD|195828	OMIM|610160
IPC-div2	NKAIN3	1.131895996	2.34E-10	Unclassified	BrainSpLMD|286183	OMIM|612872
IPC-div2	RFC3	1.265015093	3.06E-10	DNA binding protein	BrainSpLMD|5983;Eurexp|euxassay_010694|submandibular gland primordium, ventricular layer	OMIM|600405
IPC-div2	DDX39A	1.220030063	3.14E-10	RNA helicase	BrainSpLMD|10212	
IPC-div2	SUPT16H	0.81615194	3.15E-10	Transcription factor	BrainSpLMD|11198;Eurexp|euxassay_019556|axial skeleton, dorsal grey horn, hindgut, incisor, lobe, lung, marginal layer, metanephros, midgut, olfactory, orbito-sphenoid, pancreas, phalanx, stomach, sublingual gland primordium, thymus primordium, urethra, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|77466	OMIM|605012
IPC-div2	CENPJ	0.624960529	3.29E-10	Cytoskeletal protein	BrainSpLMD|55835;Eurexp|euxassay_014821|cortex, incisor, lung, marginal layer, molar, neural retina, olfactory, pituitary, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ	OMIM|609279;HPO|55835|11 pairs of ribs, Abnormal cortical bone morphology, Abnormality of dental enamel, Absent earlobe, Agenesis of corpus callosum, Autosomal recessive inheritance, Cachexia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital onset, Convex nasal ridge, Craniosynostosis, Decreased body weight, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Heterogeneous, Heterotopia, High forehead, Hip dysplasia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Pachygyria, Prematurely aged appearance, Reduced number of teeth, Retrognathia, Sandal gap, Short stature, Sloping forehead, Small cerebral cortex, Sparse scalp hair, Steep acetabular roof, Thin upper lip vermilion, Underdeveloped nasal alae, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
IPC-div2	LIG1	1.691168371	3.53E-10	DNA ligase	BrainSpLMD|3978;Eurexp|euxassay_018504|marginal layer, thymus primordium, ventricular layer	OMIM|126391
IPC-div2	E2F3	0.890851001	3.78E-10	Transcription factor	BrainSpLMD|1871;BrainSpMouseDev|13336	OMIM|600427
IPC-div2	SMC3	0.581877916	4.10E-10	Unclassified	BrainSpLMD|9126;Eurexp|euxassay_000017|cortex, dorsal root ganglion, heart, larynx, lung, rest of mesenchyme, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|606062;HPO|9126|Abnormality of the cardiac septa, Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Brachydactyly, Bulbous nose, Clinodactyly of the 5th finger, Cognitive impairment, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downturned corners of mouth, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hirsutism, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Limited elbow movement, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phenotypic variability, Phthisis bulbi, Poor speech, Premature birth, Prominent nasal bridge, Proximal placement of thumb, Ptosis, Pulmonic stenosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Synophrys, Thick eyebrow, Thick hair, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Vesicoureteral reflux, Widely spaced teeth
IPC-div2	BRIP1	1.995230154	4.14E-10	DNA helicase	BrainSpLMD|83990;Eurexp|euxassay_013686|cochlea, marginal layer, ventricular layer	OMIM|605882;COSMIC||AML, leukaemia, breast;HPO|83990|Abnormality of chromosome stability, Abnormality of the fallopian tube, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone marrow hypocellularity, Breast carcinoma, Chromosomal breakage induced by crosslinking agents, Esophageal atresia, Global developmental delay, Heterogeneous, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Ovarian neoplasm, Postnatal growth retardation, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
IPC-div2	GNG5	0.994749759	4.96E-10	G protein	BrainSpLMD|2787;Eurexp|euxassay_007798|embryo	OMIM|600874
IPC-div2	HMGB1P5	0.938874317	5.05E-10			
IPC-div2	HIST1H2BF	2.090258244	6.38E-10	DNA binding protein	BrainSpLMD|8343	OMIM|602804
IPC-div2	MASTL	1.953237155	6.58E-10	Unclassified	BrainSpLMD|84930;Eurexp|euxassay_000091|liver, otic capsule, thymus primordium, tooth	OMIM|608221;HPO|84930|Autosomal dominant inheritance, Bruising susceptibility, Thrombocytopenia
IPC-div2	NASP	0.882366956	6.60E-10	Cell cycle control protein	BrainSpLMD|4678;Eurexp|euxassay_016401|marginal layer, metanephros, ventricular layer	OMIM|603185
IPC-div2	SKA1	1.753996504	7.11E-10	Unclassified	BrainSpLMD|220134	OMIM|616673
IPC-div2	TMEM98	0.963768582	7.71E-10	Integral membrane protein	BrainSpLMD|26022	OMIM|615949;HPO|26022|Abnormality of the choroid, Autosomal dominant inheritance, Glaucoma, High-grade hypermetropia, Microphthalmia, Strabismus
IPC-div2	RFC4	1.167194131	7.91E-10	DNA binding protein	BrainSpLMD|5984	OMIM|102577
IPC-div2	CENPI	1.727210983	1.04E-09	Unclassified	BrainSpLMD|2491	OMIM|300065
IPC-div2	VRK1	1.120245557	1.30E-09	Serine/threonine kinase	BrainSpLMD|7443	OMIM|602168;HPO|7443|Abnormality of the foot, Ataxia, Autosomal recessive inheritance, Basal ganglia gliosis, Cerebellar hypoplasia, Congenital contracture, Congenital onset, Degeneration of anterior horn cells, EMG: neuropathic changes, Fasciculations, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hyperreflexia, Hypoplasia of the pons, Hypoplasia of the ventral pons, Intellectual disability, Muscle weakness, Neuronal loss in basal ganglia, Progressive, Respiratory insufficiency, Spinal muscular atrophy
IPC-div2	MPPED2	0.903627224	1.38E-09	Enzyme: Hydrolase	BrainSpLMD|744;Eurexp|euxassay_014223|axial skeleton, head mesenchyme, rib, thyroid, ventricular layer	OMIM|600911
IPC-div2	CDCA7	0.819016675	1.43E-09	Cell cycle control protein	BrainSpLMD|83879	OMIM|609937;HPO|83879|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Conductive hearing impairment, Cryptorchidism, Decreased antibody level in blood, Depressed nasal bridge, Flat face, Global developmental delay, Hypertelorism, Hypoplastic ischia, Hypospadias, Intellectual disability, Intrauterine growth retardation, Low-set ears, Lymphopenia, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Polydactyly, Recurrent respiratory infections, Short nose, Short stature, Strabismus
IPC-div2	RBBP8	1.129526177	1.52E-09	Transcription regulatory protein	BrainSpLMD|5932	OMIM|604124;HPO|5932|4-5 toe syndactyly, Abnormality of dental enamel, Absent earlobe, Absent fourth finger distal interphalangeal crease, Aggressive behavior, Autosomal recessive inheritance, Cachexia, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital microcephaly, Convex nasal ridge, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Few cafe-au-lait spots, Glaucoma, Growth delay, Hallux valgus, Heart murmur, Hip dysplasia, Hypospadias, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Microdontia, Microglossia, Micrognathia, Microphthalmia, Mild global developmental delay, Narrow face, Narrow forehead, Prematurely aged appearance, Prominent nose, Reduced number of teeth, Retrognathia, Sandal gap, Short middle phalanx of the 5th finger, Short stature, Single interphalangeal crease of fifth finger, Small for gestational age, Sparse scalp hair, Thoracic scoliosis
IPC-div2	FOXM1	1.71013862	1.93E-09	Transcription factor	BrainSpLMD|2305;BrainSpMouseDev|14012	OMIM|602341
IPC-div2	CBX5	0.390407255	1.95E-09	DNA binding protein	BrainSpLMD|23468	OMIM|604478
IPC-div2	KIF14	0.881646614	2.00E-09	Motor protein	BrainSpLMD|9928	OMIM|611279;HPO|9928|Agenesis of corpus callosum, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral hypoplasia, Intrauterine growth retardation, Microcephaly, Oligohydramnios, Renal agenesis, Renal hypoplasia, Rocker bottom foot, Sloping forehead
IPC-div2	GGCT	1.243450636	2.37E-09	Unclassified	BrainSpLMD|79017	OMIM|137170
IPC-div2	LPPR1	0.938410426	2.41E-09			
IPC-div2	SLC25A5	0.881144595	2.45E-09	Integral membrane protein		OMIM|300150
IPC-div2	NUP155	0.515808884	2.78E-09	Transport/cargo protein	BrainSpLMD|9631	OMIM|606694;HPO|9631|Atrial fibrillation, Atrial flutter, Autosomal recessive inheritance
IPC-div2	PRIM1	0.933862151	2.81E-09	RNA polymerase	BrainSpLMD|5557;Eurexp|euxassay_018061|embryo	OMIM|176635
IPC-div2	HNRNPA1P10	1.354842223	2.94E-09			
IPC-div2	HIST1H2AJ	1.284199152	3.20E-09	DNA binding protein	BrainSpLMD|8331	OMIM|602791
IPC-div2	RP11.386M24.4	0.937839579	3.48E-09			
IPC-div2	RAD18	1.323275087	3.57E-09	DNA binding protein	BrainSpLMD|56852	OMIM|605256
IPC-div2	WEE1	0.632700631	3.86E-09	Dual specificity kinase	BrainSpLMD|7465;Eurexp|euxassay_016462|hindgut, lung, midgut, stomach, submandibular gland primordium, ventricular layer	OMIM|193525
IPC-div2	WSCD1	2.008560575	3.89E-09	Integral membrane protein	BrainSpLMD|23302;Eurexp|euxassay_007047|anterior, brain, calyces, cardiac muscle, ductus deferens, incisor, inner ear, mesenchyme, molar, olfactory, optic II, pelvis, posterior, renal/urinary system, retina, spinal cord, thymus primordium, ureter, vagus X, vertebral axis muscle system, vomeronasal organ	
IPC-div2	CENPQ	1.116315508	4.04E-09	Unclassified	BrainSpLMD|55166	OMIM|611506
IPC-div2	DDX11	1.849818416	4.11E-09	RNA binding protein		SFARI||Autism, 5 - Hypothesized but untested;OMIM|601150;HPO|1663|2-3 toe syndactyly, Autosomal recessive inheritance, Cupped ear, Cutis marmorata, Epicanthus, Generalized hypotonia, Global developmental delay, Hearing impairment, High palate, Hypoplasia of the cochlea, Intellectual disability, Intrauterine growth retardation, Microcephaly, Optic nerve coloboma, Single transverse palmar crease, Sloping forehead, Small face, Ventricular septal defect, Wide mouth
IPC-div2	TMEM106C	0.890662494	4.13E-09	Unclassified	BrainSpLMD|79022	
IPC-div2	GMPS	0.664610668	4.58E-09	Enzyme: Amidinotransferase	BrainSpLMD|8833	OMIM|600358;COSMIC||AML
IPC-div2	COL9A1	1.546617954	4.70E-09	Extracellular matrix protein	BrainSpLMD|1297;Eurexp|euxassay_011520|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, hyoid bone, mandible, maxilla, metacarpus, metatarsus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, radius, rib, scapula, sternum, submandibular gland primordium, temporal bone, thyroid, tibia, trachea, turbinate, ulna, vault of skull;BrainSpMouseDev|12622	OMIM|120210;HPO|1297|Abnormality of epiphysis morphology, Abnormality of the knee, Amblyopia, Arthralgia, Arthralgia of the hip, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Childhood onset, Cleft palate, Degenerative vitreoretinopathy, Epiphyseal dysplasia, Flat capital femoral epiphysis, Flat distal femoral epiphysis, Flat face, Gait disturbance, Genu valgum, Hip dysplasia, Irregular distal femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Limitation of joint mobility, Malar flattening, Micrognathia, Micromelia, Multiple epiphyseal dysplasia, Myopia, Osteoarthritis, Platyspondyly, Retinal detachment, Schmorl's node, Sensorineural hearing impairment, Severe Myopia, Short stature, Small epiphyses, Vitreoretinal degeneration
IPC-div2	ZEB1	0.619732215	4.78E-09	Transcription factor	BrainSpLMD|6935;Eurexp|euxassay_015398|central nervous system, meninges, vertebral axis muscle system;BrainSpMouseDev|21178	OMIM|189909;COSMIC||CCRCC, melanoma;HPO|6935|Autosomal dominant inheritance, Corneal dystrophy, Corneal guttata
IPC-div2	NNAT	0.607470461	5.02E-09	Regulatory/other subunit	BrainSpLMD|4826;Eurexp|euxassay_007364|brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, mesenchyme, mesothelium, midgut, neural retina, oesophagus, olfactory, paraxial mesenchyme, pericardial cavity, peritoneal cavity, right lung, skeletal muscle, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|17878	OMIM|603106
IPC-div2	GNG4	0.626390436	5.22E-09	G protein	BrainSpLMD|2786	OMIM|604388
IPC-div2	SEZ6L	1.148639056	5.25E-09	Integral membrane protein	BrainSpLMD|23544;Eurexp|euxassay_009459|brain, neural retina, spinal cord	OMIM|607021
IPC-div2	SPECC1	1.4068014	5.36E-09	Unclassified	BrainSpLMD|92521;Eurexp|euxassay_013924|aorta, liver, molar, ventricular layer	OMIM|608793;COSMIC||JMML
IPC-div2	C19orf48	1.375639238	5.37E-09	Unclassified	BrainSpLMD|84798	
IPC-div2	CSRP2	0.669876547	5.66E-09	Adapter molecule	BrainSpLMD|1466;Eurexp|euxassay_016538|aorta, bladder, dorsal grey horn, hindgut, intermediate grey horn, mantle layer, midgut, neural retina, orbito-sphenoid, pancreas, skeletal muscle, stomach, temporal bone, turbinate, vault of skull	OMIM|601871
IPC-div2	SNRPD1	0.869085965	5.68E-09	RNA binding protein	BrainSpLMD|6632	OMIM|601063
IPC-div2	EXOSC9	0.687127803	6.02E-09	Ribonuclease	BrainSpLMD|5393	OMIM|606180
IPC-div2	SRSF3	0.259183061	6.26E-09	RNA binding protein	BrainSpLMD|6428	OMIM|603364;COSMIC||follicular lymphoma
IPC-div2	BBX	0.577116384	6.26E-09	Transcription factor	BrainSpLMD|56987;Eurexp|euxassay_001866|cortex, mantle layer, pituitary, testis, ventricular layer;BrainSpMouseDev|46349	
IPC-div2	HMGN2P4	0.547375775	6.66E-09			
IPC-div2	SAMD1	1.63260619	6.71E-09	Unclassified	BrainSpLMD|90378	
IPC-div2	KIF18B	1.421315163	6.82E-09	Unclassified		OMIM|614570
IPC-div2	DHTKD1	1.094663508	7.44E-09	Enzyme: Oxidoreductase	BrainSpLMD|55526	OMIM|614984;HPO|55526|Aminoaciduria, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Delayed speech and language development, Difficulty walking, Generalized hypotonia, Global developmental delay, Intellectual disability, mild, Microcephaly, Phenotypic variability, Skeletal muscle atrophy
IPC-div2	STIL	1.457253299	7.62E-09	Unclassified	BrainSpLMD|6491	OMIM|181590;COSMIC||T-ALL;HPO|6491|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Congenital onset, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
IPC-div2	C5orf34	0.486036543	8.62E-09	Unclassified	BrainSpLMD|375444	
IPC-div2	PAICS	0.860926375	9.56E-09	Enzyme: Carboxylase	BrainSpLMD|10606;Eurexp|euxassay_018936|marginal layer, nucleus pulposus, submandibular gland primordium, ventricular layer, vibrissa	OMIM|172439
IPC-div2	RPA3	0.678432939	1.00E-08	DNA binding protein	BrainSpLMD|6119	OMIM|179837
IPC-div2	PTBP1	2.63169038	1.01E-08	Ribonucleoprotein	BrainSpLMD|5725	OMIM|600693
IPC-div2	SLC43A3	0.847312252	1.02E-08	Membrane transport protein	BrainSpLMD|29015	
IPC-div2	HMGB1P10	0.762306995	1.05E-08			
IPC-div2	CDC6	1.612089144	1.06E-08	Cell cycle control protein	BrainSpLMD|990	OMIM|602627;HPO|990|Abnormality of epiphysis morphology, Abnormality of the ribs, Anotia, Aplastic clavicles, Atresia of the external auditory canal, Autosomal recessive inheritance, Birth length less than 3rd percentile, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Craniosynostosis, Cryptorchidism, Delayed skeletal maturation, Elbow dislocation, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, High, narrow palate, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Intrauterine growth retardation, Irregular femoral epiphysis, Joint hyperflexibility, Long philtrum, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Micropenis, Microtia, Microtia, third degree, Mild global developmental delay, Motor delay, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Prominent metopic ridge, Respiratory distress, Respiratory failure, Retrognathia, Severe short stature, Slender long bone, Small earlobe, Triangular face
IPC-div2	BUB3	0.61129825	1.10E-08	Cell cycle control protein	BrainSpLMD|9184;Eurexp|euxassay_004484|hindbrain, lateral wall, mantle layer, saccule, utricle	OMIM|603719;HPO|9184|Abnormality of vision, Ascites, Cataract, Corneal opacity, Dandy-Walker malformation, Epicanthus, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Polyhydramnios, Short stature, Triangular face
IPC-div2	HMGN5	1.721963055	1.13E-08	Transcription regulatory protein	BrainSpLMD|79366;BrainSpMouseDev|30371	OMIM|300385
IPC-div2	PENK	1.744614672	1.17E-08	Peptide hormone	BrainSpLMD|5179;BrainSpMouseDev|18385	OMIM|131330
IPC-div2	RANBP1	1.319579421	1.22E-08	Transport/cargo protein		OMIM|601180
IPC-div2	PTMA	0.59238836	1.23E-08	Unclassified	BrainSpLMD|5757	OMIM|188390
IPC-div2	ZW10	1.880489078	1.33E-08	Cell cycle control protein	BrainSpLMD|9183	OMIM|603954
IPC-div2	KIFC1	1.118057276	1.47E-08	Motor protein	Eurexp|euxassay_010691|marginal layer, ventricular layer	OMIM|603763
IPC-div2	LPPR4	1.153980643	1.48E-08			
IPC-div2	DDX12P	2.758328224	1.50E-08	-		OMIM|601151
IPC-div2	NCAPD2	1.376475363	1.53E-08	DNA binding protein	BrainSpLMD|9918;Eurexp|euxassay_005651|embryo	OMIM|615638
IPC-div2	TMSB15A	0.449036678	1.54E-08	Unclassified	BrainSpLMD|11013	OMIM|300939
IPC-div2	TTF2	1.367178942	1.57E-08	Transcription regulatory protein	BrainSpLMD|8458;Eurexp|euxassay_012438|ventricular layer;BrainSpMouseDev|49885	OMIM|604718
IPC-div2	FABP5P7	0.342136096	1.67E-08			
IPC-div2	SDC2	1.311170601	1.90E-08	Adhesion molecule	BrainSpLMD|6383;Eurexp|euxassay_002176|Meckel's cartilage, basioccipital bone, orbito-sphenoid, rib, temporal bone	SFARI||Autism, 4 - Minimal evidence;OMIM|142460
IPC-div2	TMX1	0.948570852	2.00E-08	Enzyme: Oxidoreductase	BrainSpLMD|81542	OMIM|610527
IPC-div2	HEG1	1.943576243	2.22E-08	Calcium binding protein	BrainSpLMD|57493;Eurexp|euxassay_005510|ventricular layer	OMIM|614182
IPC-div2	RFWD3	1.463059008	2.27E-08	Unclassified	BrainSpLMD|55159	OMIM|614151
IPC-div2	KPNB1	0.546115078	2.33E-08	Transport/cargo protein	BrainSpLMD|3837;Eurexp|euxassay_006809|embryo	OMIM|602738
IPC-div2	FOXN4	1.238584145	2.63E-08	Transcription factor	BrainSpLMD|121643;Eurexp|euxassay_019663|neural retina, ventricular layer;BrainSpMouseDev|78123	OMIM|609429
IPC-div2	CDCA8	1.019743828	2.69E-08	Cell cycle control protein	BrainSpLMD|55143	OMIM|609977
IPC-div2	TP53	0.539351968	2.85E-08	Transcription factor	BrainSpLMD|7157;Eurexp|euxassay_017977|submandibular gland primordium, thymus primordium;BrainSpMouseDev|21816	OMIM|191170;COSMIC||breast, colorectal, lung, sarcoma, adrenocortical, glioma, Spitzoid tumour, multiple other tumour types, breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types;HPO|7157|Abnormal lactate dehydrogenase activity, Abnormal platelet morphology, Abnormality of metabolism/homeostasis, Abnormality of the fallopian tube, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphysis, Acute leukemia, Adrenocortical carcinoma, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast carcinoma, Chest pain, Choroid plexus papilloma, Colon cancer, Elevated alkaline phosphatase, Headache, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hydrocephalus, Increased megakaryocyte count, Joint swelling, Lung adenocarcinoma, Lymphoma, Micronodular cirrhosis, Myocardial infarction, Nausea, Neoplasia of the nasopharynx, Neoplasm of the adrenal cortex, Neoplasm of the colon, Neoplasm of the nervous system, Neoplasm of the pancreas, Neoplasm of the skin, Neoplasm of the stomach, Nephroblastoma, Osteolysis, Osteosarcoma, Ovarian neoplasm, Pain, Papilledema, Paresthesia, Polygenic inheritance, Primary peritoneal carcinoma, Progressive encephalopathy, Prolonged bleeding time, Prostate cancer, Prostate neoplasm, Renal cell carcinoma, Retinoblastoma, Seizures, Soft tissue sarcoma, Somatic mutation, Splenomegaly, Subacute progressive viral hepatitis, Transient ischemic attack, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Venous thrombosis, Vomiting
IPC-div2	SNCAIP	0.837498657	3.24E-08	Unclassified	BrainSpLMD|9627	OMIM|603779;HPO|9627|Bradykinesia, Constipation, Dementia, Depressivity, Dysarthria, Dysphagia, Dystonia, Insidious onset, Lewy bodies, Mask-like facies, Neuronal loss in central nervous system, Parkinsonism, Personality changes, Postural instability, Progressive, Resting tremor, Rigidity, Short stepped shuffling gait, Sleep disturbance, Sporadic, Substantia nigra gliosis, Urinary urgency, Weak voice
IPC-div2	SALL3	0.890911114	3.47E-08	DNA binding protein	BrainSpLMD|27164;Eurexp|euxassay_010911|cochlea, glomeruli, inner ear, lip, mantle layer, medulla oblongata, palatal shelf, penis, utricle, valve, ventricular layer;BrainSpMouseDev|20451	OMIM|605079
IPC-div2	WDR34	1.800038115	3.49E-08	Unclassified	BrainSpLMD|89891	OMIM|613363;HPO|89891|Abdominal distention, Abnormal pelvis bone ossification, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Autosomal recessive inheritance, Bell-shaped thorax, Brachydactyly, Cleft upper lip, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Frontal bossing, Horizontal ribs, Hydronephrosis, Hydrops fetalis, Hypoplasia of penis, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Narrow chest, Postaxial hand polydactyly, Recurrent respiratory infections, Renal hypoplasia, Respiratory insufficiency, Short foot, Short long bone, Short palm, Short ribs, Short thorax, Skeletal dysplasia, Thoracic dysplasia, Urethrovaginal fistula, Uterus didelphys, Wide nose
IPC-div2	H2AFX	1.498479459	3.75E-08	DNA binding protein	BrainSpLMD|3014;Eurexp|euxassay_002718|ventricular layer	OMIM|601772
IPC-div2	TTK	1.212256136	3.78E-08	Dual specificity kinase	BrainSpLMD|7272	OMIM|604092
IPC-div2	CMC2	0.893271274	4.00E-08	Unclassified	BrainSpLMD|56942	
IPC-div2	NAP1L1	0.340013054	4.03E-08	Transcription regulatory protein	BrainSpLMD|4673;Eurexp|euxassay_005511|nucleus pulposus	OMIM|164060
IPC-div2	HIST1H2BD	0.465079276	4.43E-08	DNA binding protein	BrainSpLMD|3017	OMIM|602799
IPC-div2	TBC1D1	0.599026866	4.84E-08	Unclassified	BrainSpLMD|23216	OMIM|609850
IPC-div2	RBBP7	1.373969435	5.37E-08	Transcription regulatory protein	BrainSpLMD|5931;Eurexp|euxassay_011608|cranium, midgut, pelvis, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|300825
IPC-div2	PRPS2	1.026178832	5.53E-08	Enzyme: Ligase	BrainSpLMD|5634	OMIM|311860
IPC-div2	ALYREF	0.888994567	5.87E-08	Chaperone	BrainSpLMD|10189	OMIM|604171
IPC-div2	ADCY3	0.914765091	6.08E-08	Adenylate cyclase	BrainSpLMD|109;Eurexp|euxassay_018616|facial VII, olfactory, trigeminal V, ventral grey horn	SFARI||Autism, 3 - Suggestive evidence;OMIM|600291
IPC-div2	CENPH	1.305029386	6.44E-08	DNA binding protein	BrainSpLMD|64946;Eurexp|euxassay_003389|submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|605607
IPC-div2	AHI1	0.487703412	6.59E-08	Adapter molecule	BrainSpLMD|54806;Eurexp|euxassay_005590|brain, cervical, cervico-thoracic, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V;BrainSpMouseDev|32386	SFARI||Autism, No category;OMIM|608894;HPO|54806|Abnormal electroretinogram, Anteverted nares, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Central apnea, Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Enlarged fossa interpeduncularis, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Heterogeneous, Highly arched eyebrow, Intellectual disability, Long face, Low-set ears, Molar tooth sign on MRI, Motor delay, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nystagmus, Oculomotor apraxia, Open mouth, Pigmentary retinopathy, Ptosis, Retinal dystrophy, Stage 5 chronic kidney disease, Visual impairment, Wide nasal bridge
IPC-div2	TUBB	0.590050983	6.97E-08	Cytoskeletal protein	BrainSpLMD|203068	OMIM|191130;HPO|203068|Abnormality of cardiovascular system morphology, Abnormality of the skin, Ataxia, Autosomal dominant inheritance, Blepharophimosis, Brachycephaly, Cerebellar hypoplasia, Cleft palate, Congenital onset, Delayed speech and language development, Edema, Epicanthus, Flat face, Global developmental delay, High palate, Hypertelorism, Hypoplasia of the brainstem, Hypoplastic nipples, Increased number of skin folds, Intellectual disability, Irregular hyperpigmentation, Localized neuroblastoma, Low-set ears, Microcephaly, Motor delay, Narrow mouth, Periorbital fullness, Posteriorly rotated ears, Short neck, Short palpebral fissure, Thickened skin, Wide intermamillary distance
IPC-div2	GJC1	0.751843957	7.11E-08	Transport/cargo protein	BrainSpLMD|10052;Eurexp|euxassay_012257|cortex, incisor, mantle layer, trachea, ventricular layer	OMIM|608655
IPC-div2	KIF18A	0.870220704	7.47E-08	Motor protein	BrainSpLMD|81930	OMIM|611271
IPC-div2	ASF1B	1.493280308	7.47E-08	Chaperone	BrainSpLMD|55723;Eurexp|euxassay_001590|basisphenoid bone, exoccipital bone, lobe, marginal layer, neural retina, orbito-sphenoid, otic capsule, submandibular gland primordium, temporal bone, thymus primordium, ventricular layer, vibrissa	OMIM|609190
IPC-div2	GGH	1.161860079	7.51E-08	Enzyme: Hydrolase	BrainSpLMD|8836	OMIM|601509
IPC-div2	DAPK2	1.816026385	8.46E-08	Serine/threonine kinase	BrainSpLMD|23604;Eurexp|euxassay_010569|clavicle, mandible, maxilla, orbito-sphenoid, ventricular layer	OMIM|616567
IPC-div2	MDK	0.308803214	9.33E-08	Cytokine	BrainSpLMD|4192;Eurexp|euxassay_000525|anal region, gut, head mesenchyme, lung, mesenchyme, metanephros, penis, physiological umbilical hernia, spleen primordium, trunk mesenchyme, ventricular layer	OMIM|162096
IPC-div2	CCP110	0.839236652	9.52E-08		BrainSpLMD|9738;Eurexp|euxassay_005409|olfactory	OMIM|609544
IPC-div2	FABP5	0.433893018	9.54E-08	Transport/cargo protein	Eurexp|euxassay_002194|axial skeleton, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lobe, molar, naris, thoracic, thymus primordium, trigeminal V, vagus X, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|605168
IPC-div2	MAGOH	0.878432389	9.61E-08	Cell cycle control protein	BrainSpLMD|4116	OMIM|602603
IPC-div2	LINC01158	0.549687768	1.03E-07			
IPC-div2	RP11.1012A1.7	0.78331473	1.04E-07			
IPC-div2	CIT	1.457314139	1.10E-07	Serine/threonine kinase	BrainSpLMD|11113;Eurexp|euxassay_014352|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, cervical region, clavicle, femur, fibula, humerus, hyoid bone, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, thyroid, tibia, turbinate bones, vault of skull;BrainSpMouseDev|12488	OMIM|605629;HPO|11113|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Bulbous nose, Cerebellar hypoplasia, Congenital onset, Cortical gyral simplification, Failure to thrive, Global developmental delay, Heterotopia, Hyperreflexia, Hypertelorism, Hypoplasia of the brainstem, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Macrotia, Microcephaly, Pachygyria, Renal agenesis, Short stature, Sloping forehead, Spasticity, Thick vermilion border, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vesicoureteral reflux
IPC-div2	HAUS1	0.712459911	1.15E-07	Cell cycle control protein	BrainSpLMD|115106;Eurexp|euxassay_003161|chondrocranium, cortex, incisor, lobe, oesophagus, pancreas, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|608775
IPC-div2	MSN	0.956294024	1.16E-07	Cytoskeletal protein	BrainSpLMD|4478;Eurexp|euxassay_009365|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, organ system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	SFARI||Autism, 5 - Hypothesized but untested;OMIM|309845;COSMIC||ALCL;HPO|4478|Decreased antibody level in blood, Eczema, Lymphopenia, Recurrent respiratory infections, Recurrent urinary tract infections, X-linked recessive inheritance
IPC-div2	GAPDH	0.702264833	1.20E-07	Enzyme: Dehydrogenase		OMIM|138400
IPC-div2	FANCG	1.532896741	1.20E-07	DNA repair protein	BrainSpLMD|2189	OMIM|602956;COSMIC||AML, leukaemia;HPO|2189|Abnormality of chromosome stability, Abnormality of the thumb, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukemia, Leukopenia, Microcephaly, Multiple cafe-au-lait spots, Myelodysplasia, Neutropenia, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
IPC-div2	EIF4EBP2	0.513240652	1.22E-07	Translation regulatory protein	BrainSpLMD|1979	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602224
IPC-div2	CHD7	0.353771232	1.24E-07	DNA binding protein	Eurexp|euxassay_010758|marginal layer, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|608892;HPO|55636|Abnormality of body height, Abnormality of female internal genitalia, Abnormality of lymphocytes, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Alopecia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bifid scrotum, Breast hypoplasia, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Desquamation of skin soon after birth, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysphagia, Edema, Eosinophilia, Erectile abnormalities, Erythroderma, Esophageal atresia, Eunuchoid habitus, External ear malformation, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Female hypogonadism, Fever, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Hepatomegaly, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphopenia, Malar flattening, Male hypogonadism, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Non-obstructive azoospermia, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Pneumonia, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Secondary amenorrhea, Sensorineural hearing impairment, Severe combined immunodeficiency, Sparse body hair, Splenomegaly, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Thickened skin, Tracheoesophageal fistula, Umbilical hernia, Ventricular septal defect, Wide intermamillary distance
IPC-div2	SUZ12	0.703630689	1.31E-07	Unclassified	BrainSpLMD|23512;Eurexp|euxassay_011822|Meckel's cartilage, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, orbito-sphenoid, petrous part, scapula, tibia, turbinate	OMIM|606245;COSMIC||endometrial stromal tumour;HPO|23512|Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Accelerated skeletal maturation, Broad foot, Broad forehead, Broad thumb, Camptodactyly of finger, Deep philtrum, Deep-set nails, Feeding difficulties in infancy, Fine hair, Global developmental delay, Hoarse voice, Hypertelorism, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Joint stiffness, Large hands, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Micrognathia, Redundant skin, Retrognathia, Round face, Spasticity, Tall stature, Thin nail
IPC-div2	CCNB2	0.745204119	1.36E-07	Cell cycle control protein	BrainSpLMD|9133;Eurexp|euxassay_004323|axial muscle, ventricular layer	OMIM|602755
IPC-div2	RPA1	1.153746593	1.45E-07	DNA binding protein	BrainSpLMD|6117;Eurexp|euxassay_008207|ventricular layer	OMIM|179835
IPC-div2	ZHX3	0.527303101	1.49E-07	Transcription regulatory protein	BrainSpLMD|23051;Eurexp|euxassay_019571|cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, midgut, thoracic, trigeminal V, vagus X, vibrissa;BrainSpMouseDev|107734	OMIM|609598
IPC-div2	MIR16.1	0.770554149	1.58E-07			
IPC-div2	TMEM170A	0.70438561	1.60E-07	Unclassified	BrainSpLMD|124491	
IPC-div2	SLC39A11	1.029746225	1.62E-07	Membrane transport protein	BrainSpLMD|201266	SFARI||Autism, No category;OMIM|616508
IPC-div2	SKP2	0.959912873	1.64E-07	Ubiquitin proteasome system protein	BrainSpLMD|6502	OMIM|601436
IPC-div2	C18orf54	0.762760295	1.66E-07	Unclassified		OMIM|613258
IPC-div2	CDK5RAP2	0.88243787	1.70E-07	Cell cycle control protein	BrainSpLMD|55755	OMIM|608201;HPO|55755|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, moderate, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Small cerebral cortex, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
IPC-div2	KPNA2	0.350646317	1.73E-07	Transport/cargo protein	BrainSpLMD|3838	OMIM|600685
IPC-div2	SRRT	1.272680549	1.85E-07	Unclassified	BrainSpLMD|51593	OMIM|614469
IPC-div2	TPI1	0.640275505	2.02E-07	Enzyme: Isomerase	BrainSpLMD|7167	OMIM|190450;HPO|7167|Abnormality of immune system physiology, Autosomal recessive inheritance, Central nervous system degeneration, Cholecystitis, Cholelithiasis, Chronic hemolytic anemia, Congestive heart failure, Diaphragmatic paralysis, Dystonia, Generalized hypotonia, Global developmental delay, Hemolytic anemia, Hyporeflexia, Jaundice, Kyphosis, Muscular hypotonia, Myopathy, Normochromic anemia, Normocytic anemia, Peripheral neuropathy, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Splenomegaly, Tremor, Unsteady gait
IPC-div2	SAE1	1.192096492	2.04E-07	Enzyme: Ligase	BrainSpLMD|10055;Eurexp|euxassay_005976|embryo	SFARI||Autism, No category;OMIM|613294
IPC-div2	SPCS2	0.524287293	2.06E-07	Protease		
IPC-div2	HCFC1	0.845312573	2.17E-07	Transcription factor	BrainSpLMD|3054	SFARI||Autism, No category;OMIM|300019;HPO|3054|Brachycephaly, Failure to thrive, Generalized hypotonia, Hypsarrhythmia, Infantile onset, Intellectual disability, Methylmalonic acidemia, Methylmalonic aciduria, Microcephaly, Short stature, X-linked inheritance, X-linked recessive inheritance
IPC-div2	PCBP2	0.547313278	2.22E-07	RNA binding protein	BrainSpLMD|5094	OMIM|601210
IPC-div2	TUBGCP3	1.238594641	2.23E-07	Cytoskeletal associated protein	BrainSpLMD|10426;Eurexp|euxassay_002145|thymus primordium	
IPC-div2	PLIN2	0.834009926	2.29E-07	Storage protein	BrainSpLMD|123	OMIM|103195
IPC-div2	WIPF3	0.877068517	2.35E-07	Cytoskeletal associated protein	BrainSpLMD|644150	OMIM|612432
IPC-div2	ZFHX4	0.61401058	2.40E-07	Transcription factor	BrainSpLMD|79776;Eurexp|euxassay_005820|epidermis, mantle layer, nasal septum, urethra;BrainSpMouseDev|56662	OMIM|606940;HPO|79776|Autosomal dominant inheritance, Congenital ptosis
IPC-div2	TOMM5	0.536074336	2.50E-07	Unclassified		OMIM|616169
IPC-div2	HDAC9	1.068211509	2.62E-07	Transcription regulatory protein	BrainSpLMD|9734	OMIM|606543
IPC-div2	LSM4	0.657437558	2.64E-07	RNA binding protein	BrainSpLMD|25804	OMIM|607284
IPC-div2	CTNNAL1	1.55905263	2.65E-07	Unclassified	BrainSpLMD|8727	OMIM|604785
IPC-div2	GOLIM4	0.441375435	2.65E-07	Integral membrane protein	BrainSpLMD|27333	OMIM|606805
IPC-div2	ELAVL4	0.427535398	2.66E-07	RNA binding protein	BrainSpLMD|1996	OMIM|168360
IPC-div2	DTYMK	1.020598395	2.72E-07	Enzyme: Phosphotransferase	Eurexp|euxassay_003137|chondrocranium, incisor, molar, pancreas, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|188345
IPC-div2	LINC00669	0.878264617	2.85E-07			
IPC-div2	ANKRD32	1.013359879	3.05E-07			
IPC-div2	CDC7	1.170379505	3.15E-07	Cell cycle control protein	BrainSpLMD|8317;Eurexp|euxassay_012050|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|603311
IPC-div2	CDCA7L	1.090252533	3.20E-07	Transcription factor	BrainSpLMD|55536;Eurexp|euxassay_003467|adenohypophysis, epidermis, fundus region, glomeruli, hindgut, left lung, lobe, lumen, lung, marginal layer, midgut, neural retina, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, respiratory, right lung, stomach, submandibular gland primordium, testis, thymus primordium, trachea, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|85297	OMIM|609685
IPC-div2	LMNB2	1.494672989	3.36E-07	Structural protein	BrainSpLMD|84823	OMIM|150341;HPO|84823|Autoimmunity, Autosomal recessive inheritance, Decreased serum complement C3, Gait ataxia, Generalized amyotrophy, Global developmental delay, Hearing impairment, Intellectual disability, Lipoatrophy, Lymphocytosis, Microglossia, Myoclonus, Myopathy, Progeroid facial appearance, Progressive, Scoliosis, Seizures, Short thumb, Status epilepticus, Ventriculomegaly
IPC-div2	SSX2IP	0.861902339	3.52E-07	Adhesion molecule	BrainSpLMD|117178	OMIM|608690
IPC-div2	MCM5	1.181193718	3.53E-07	DNA binding protein	BrainSpLMD|4174	OMIM|602696
IPC-div2	WDR5	2.056663252	3.54E-07	Cell cycle control protein		OMIM|609012
IPC-div2	QSER1	0.591220987	3.65E-07	Unclassified	BrainSpLMD|79832	
IPC-div2	REC8	1.066644111	3.77E-07	Cell cycle control protein	BrainSpLMD|9985;Eurexp|euxassay_012260|cochlea, lung, mantle layer, metanephros, olfactory, ovary, pancreas, pituitary, stomach, thyroid, trigeminal V, urethra, ventral grey horn, ventricular layer	OMIM|608193
IPC-div2	CAPG	1.45200505	3.78E-07	Cytoskeletal associated protein	BrainSpLMD|822;Eurexp|euxassay_014310|epithelium, incisor, mandible, maxilla, molar, oral epithelium, pharyngo-tympanic tube	OMIM|153615
IPC-div2	ANP32B	0.940419879	3.97E-07	Unclassified	BrainSpLMD|10541;Eurexp|euxassay_006714|embryo	
IPC-div2	INCENP	1.500402519	4.02E-07	Cell cycle control protein	BrainSpLMD|3619;Eurexp|euxassay_004695|ventricular layer	OMIM|604411
IPC-div2	TMEM209	0.483527562	4.22E-07	Integral membrane protein	BrainSpLMD|84928;Eurexp|euxassay_004682|ventricular layer	
IPC-div2	MAT2B	0.860880505	4.32E-07	Enzyme: Adenosyltransferase	BrainSpLMD|27430;Eurexp|euxassay_000623|olfactory	OMIM|605527
IPC-div2	SNRPD3	0.54529071	4.32E-07	RNA binding protein	BrainSpLMD|6634	OMIM|601062
IPC-div2	ZNF738	0.599854576	4.49E-07	Transcription regulatory protein	BrainSpLMD|148203	
IPC-div2	PTMAP2	0.599535716	4.51E-07			
IPC-div2	SET	0.331922831	4.57E-07	MHC complex protein	BrainSpLMD|6418;Eurexp|euxassay_006723|embryo	OMIM|600960;COSMIC||T-ALL
IPC-div2	RQCD1	0.411982892	5.23E-07			
IPC-div2	CDON	0.5077112	5.43E-07	Cell surface receptor	BrainSpLMD|50937;BrainSpMouseDev|37081	OMIM|608707;HPO|50937|Agenesis of corpus callosum, Autosomal dominant inheritance, Cleft lip, Cleft palate, Delayed puberty, Ectopic posterior pituitary, Failure to thrive, Global developmental delay, Holoprosencephaly, Hypoglycemia, Hypoplasia of penis, Hypotelorism, Hypothyroidism, Microcephaly, Polysplenia, Proptosis, Short stature, Sporadic, Synophrys, Thick eyebrow, Variable expressivity
IPC-div2	NUP107	0.692569191	5.90E-07	Transport/cargo protein	BrainSpLMD|57122	OMIM|607617;HPO|57122|Aplasia/Hypoplasia of the breasts, Aplasia/hypoplasia of the uterus, Autosomal recessive inheritance, Decreased fertility, Decreased serum estradiol, Delayed puberty, Delayed skeletal maturation, Gonadal dysgenesis, Hypoalbuminemia, Increased circulating gonadotropin level, Minimal change glomerulonephritis, Nephrotic syndrome, Osteopenia, Osteoporosis of vertebrae, Premature ovarian insufficiency, Primary amenorrhea, Progressive, Proteinuria, Sparse pubic hair, Stage 5 chronic kidney disease, Streak ovary, Variable expressivity
IPC-div2	NNT.AS1	0.777988488	5.91E-07			
IPC-div2	PRDX3	0.801295149	5.99E-07	Enzyme: Peroxidase	BrainSpLMD|10935;Eurexp|euxassay_006583|adrenal gland, liver, ovary, thymus primordium, thyroid	OMIM|604769
IPC-div2	JAM2	0.934406905	6.07E-07	Adhesion molecule	BrainSpLMD|58494	OMIM|606870
IPC-div2	FRMD5	1.033211444	6.08E-07	Integral membrane protein	BrainSpLMD|84978;Eurexp|euxassay_010946|atrium, bladder, brain, calyces, cervical, cervico-thoracic, collecting ducts, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, left lung, medulla, mesenchyme, mesentery, midgut, molar, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, peritoneal cavity, rectum, retina, right lung, spinal cord, stomach, thoracic, trachea, trigeminal V, urethra, vagus X, ventricle, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|616309
IPC-div2	PSMC3	1.071749627	6.20E-07	Ubiquitin proteasome system protein	BrainSpLMD|5702	OMIM|186852
IPC-div2	MCM6	1.181094489	6.61E-07	Cell cycle control protein	BrainSpLMD|4175	OMIM|601806;HPO|4175|Abdominal pain, Autosomal dominant inheritance, Autosomal recessive inheritance, Decreased small intestinal mucosa lactase activity, Diarrhea, Lactose intolerance
IPC-div2	PFN1	0.892404778	6.74E-07	Cytoskeletal associated protein	BrainSpLMD|5216	OMIM|176610;HPO|5216|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dysarthria, Dysphagia, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Muscle weakness, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
IPC-div2	LINC00478	0.679270677	7.03E-07			
IPC-div2	CUL1	1.03716411	7.06E-07	Ubiquitin proteasome system protein	BrainSpLMD|8454;Eurexp|euxassay_007276|ventricular layer	OMIM|603134
IPC-div2	ITPRIP	1.640568685	7.35E-07	Unclassified	BrainSpLMD|85450	
IPC-div2	SNRPGP10	0.32415871	7.62E-07			
IPC-div2	WHSC1	0.717078219	7.62E-07			
IPC-div2	RPS24	0.334043494	7.78E-07	Ribosomal subunit	BrainSpLMD|6229;Eurexp|euxassay_007446|embryo	OMIM|602412;HPO|6229|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Increased mean corpuscular volume, Macrocytic anemia, Migraine, Pallor, Persistence of hemoglobin F, Reticulocytopenia, Webbed neck
IPC-div2	NUDT1	1.37100564	7.94E-07	Enzyme: Hydrolase	BrainSpLMD|4521	OMIM|600312
IPC-div2	CSE1L	0.870800049	8.19E-07	Transport/cargo protein	BrainSpLMD|1434;Eurexp|euxassay_000112|cortex, gland, glossopharyngeal IX, incisor, liver, lung, metanephros, physiological umbilical hernia, submandibular gland primordium, thymus primordium, trigeminal V, turbinate bones, vagus X, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|601342
IPC-div2	HNRNPD	0.662145594	8.60E-07	RNA binding protein	BrainSpLMD|3184	OMIM|601324
IPC-div2	HNRNPAB	0.730030848	8.64E-07	Ribonucleoprotein	BrainSpLMD|3182;BrainSpMouseDev|15159	OMIM|602688
IPC-div2	ZC3H12C	1.261104945	8.94E-07	Unclassified		OMIM|615001
IPC-div2	ERH	0.613801409	9.33E-07	Transcription regulatory protein	BrainSpLMD|2079;Eurexp|euxassay_018034|orbito-sphenoid, ventricular layer	OMIM|601191
IPC-div2	RBMX	0.545519929	9.69E-07	RNA binding protein		OMIM|300199;HPO|27316|Blepharophimosis, Bulbous nose, Coarse facial features, Intellectual disability, moderate, Macroorchidism, Macrotia, Obesity, Periorbital fullness, Prominent supraorbital ridges, Specific learning disability, Thick lower lip vermilion, X-linked recessive inheritance
IPC-div2	CDC42EP3	0.689240692	9.85E-07	GTPase	BrainSpLMD|10602	OMIM|606133
IPC-div2	PSAT1	0.4356649	1.07E-06	Enzyme: Aminotransferase	BrainSpLMD|29968;Eurexp|euxassay_001596|cranium, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|610936;HPO|29968|Abnormality of the philtrum, Abnormality of the pinna, Absent septum pellucidum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Broad foot, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cleft palate, Congenital onset, Dandy-Walker malformation, Decreased fetal movement, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Feeding difficulties in infancy, Global developmental delay, High palate, Hypertelorism, Hypertonia, Hypoglycinemia, Hypogonadism, Hyposerinemia, Ichthyosis, Infantile onset, Intrauterine growth retardation, Lack of skin elasticity, Large hands, Lissencephaly, Low-set ears, Macrogyria, Macrotia, Microcephaly, Micrognathia, Muscle cramps, Muscular dystrophy, Opisthotonus, Pachygyria, Polyhydramnios, Polymicrogyria, Postnatal microcephaly, Proptosis, Rocker bottom foot, Scoliosis, Seizures, Short neck, Skeletal muscle atrophy, Sloping forehead, Thick vermilion border, Trismus
IPC-div2	OTX1	1.161668858	1.07E-06	Transcription factor	BrainSpLMD|5013;Eurexp|euxassay_004727|brain, conjunctival sac, dorsal root ganglion, epithelium, glossopharyngeal IX, incisor, naris, naso-lacrimal duct, neural retina, olfactory, oral epithelium, respiratory, spinal cord, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|18190	SFARI||Autism, 4 - Minimal evidence;OMIM|600036
IPC-div2	CDK4	1.552692129	1.12E-06	Cell cycle control protein	BrainSpLMD|1019;Eurexp|euxassay_018619|ventricular layer	OMIM|123829;COSMIC||melanoma;HPO|1019|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus, Subcutaneous nodule
IPC-div2	H3F3A	0.506505201	1.13E-06	DNA binding protein		OMIM|601128;COSMIC||glioma
IPC-div2	ZNF850	1.685464101	1.17E-06			
IPC-div2	PRR11	1.509514944	1.18E-06	Unclassified	BrainSpLMD|55771	OMIM|615920
IPC-div2	CCDC150	1.014770378	1.19E-06	Cytoskeletal protein	BrainSpLMD|284992	
IPC-div2	TPI1P1	0.719263035	1.20E-06			
IPC-div2	ENO1	0.47869433	1.24E-06	Enzyme: Hydratase	BrainSpLMD|2023	OMIM|172430
IPC-div2	C4orf46	0.973375968	1.25E-06	Unclassified		OMIM|616210
IPC-div2	ESPL1	1.712466624	1.25E-06	Cysteine protease	BrainSpLMD|9700	OMIM|604143
IPC-div2	RASGRP1	1.026136532	1.31E-06	Guanine nucleotide exchange factor	BrainSpLMD|10125;Eurexp|euxassay_005719|mantle layer, olfactory, olfactory lobe	OMIM|603962
IPC-div2	ARID1A	0.33769652	1.32E-06	RNA binding protein	BrainSpLMD|8289;Eurexp|euxassay_019588|incisor, lung, metanephros, molar, olfactory, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, thyroid, vibrissa, vomeronasal organ	OMIM|603024;COSMIC||clear cell ovarian carcinoma, RCC, breast;HPO|8289|Abnormality of cardiovascular system morphology, Abnormality of the dentition, Abnormality of the pinna, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Autosomal dominant inheritance, Brachydactyly, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Feeding difficulties in infancy, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hearing impairment, Hypertrichosis, Hypoplastic fifth fingernail, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Low anterior hairline, Macroglossia, Microcephaly, Muscular hypotonia, Nystagmus, Recurrent respiratory infections, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Slow-growing hair, Small nail, Strabismus, Thick eyebrow, Thick lower lip vermilion, Visual impairment, Wide mouth, Wide nasal bridge, Wide nose
IPC-div2	PET100	0.520867225	1.37E-06			OMIM|614770;HPO|100131801|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
IPC-div2	MDM1	1.237498181	1.37E-06	Unclassified	BrainSpLMD|56890	OMIM|613813
IPC-div2	SF3B2	0.538688511	1.38E-06	RNA binding protein	BrainSpLMD|10992	OMIM|605591
IPC-div2	ACRV1	1.85112703	1.41E-06	Ligand	BrainSpLMD|56	OMIM|102525
IPC-div2	PSRC1	0.890074551	1.43E-06	Unclassified	BrainSpLMD|84722;Eurexp|euxassay_003651|left lung, marginal layer, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|613126
IPC-div2	NUP50	0.63569944	1.44E-06	Transport/cargo protein	BrainSpLMD|10762	OMIM|604646
IPC-div2	HAT1	0.730510655	1.47E-06	Enzyme: Acyltransferase	BrainSpLMD|8520;Eurexp|euxassay_015562|brain, cerebral cortex, diencephalon, forebrain, hindbrain, liver, lung, medullary region, midbrain, optic II, optic stalk, telencephalon, testis, thymus primordium	OMIM|603053
IPC-div2	NFATC3	0.99821905	1.62E-06	Transcription factor	BrainSpLMD|4775;BrainSpMouseDev|17788	OMIM|602698
IPC-div2	RP11.303E16.2	1.073116313	1.62E-06			
IPC-div2	DLEU1	0.376516958	1.64E-06	Unclassified	BrainSpLMD|10301	OMIM|605765
IPC-div2	ALDOA	0.442385059	1.75E-06	Enzyme: Lyase;Enzyme: Aldolase	BrainSpLMD|226	OMIM|103850;HPO|226|Autosomal recessive inheritance, Cholecystitis, Cholelithiasis, Delayed puberty, Epicanthus, Jaundice, Low posterior hairline, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Ptosis, Short neck, Short stature, Splenomegaly
IPC-div2	ASPH	1.383430338	1.76E-06	Enzyme: Hydroxylase	BrainSpLMD|444	OMIM|600582;HPO|444|Abnormal facial shape, Autosomal recessive inheritance, Convex nasal ridge, Dental malocclusion, Downslanted palpebral fissures, Ectopia lentis, Iris atrophy, Large beaked nose, Prominent nose, Retrognathia
IPC-div2	HMGB1P1	0.503112102	1.86E-06	Transcription regulatory protein		
IPC-div2	RCC1	0.978590643	1.90E-06	Guanine nucleotide exchange factor	BrainSpLMD|1104;Eurexp|euxassay_000016|lateral wall, liver, lung, mandible, mantle layer, marginal layer, metanephros, palatal shelf, submandibular gland primordium, thymus primordium, trigeminal V, ventricular layer, vibrissa	OMIM|179710
IPC-div2	GULP1	0.849025896	1.94E-06	Adapter molecule	BrainSpLMD|51454	OMIM|608165
IPC-div2	NUCKS1	0.592967662	2.04E-06	DNA binding protein	BrainSpLMD|64710	OMIM|611912
IPC-div2	NCAPD3	0.944383902	2.06E-06	Unclassified	BrainSpLMD|23310	OMIM|609276
IPC-div2	GANAB	1.257167067	2.15E-06	Enzyme: Hydrolase	BrainSpLMD|23193	OMIM|104160;HPO|23193|Autosomal dominant inheritance, Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia, Variable expressivity
IPC-div2	TMTC2	0.621594821	2.26E-06	Integral membrane protein	BrainSpLMD|160335;Eurexp|euxassay_011308|axial skeleton, bladder, brain, capsule, clavicle, cornea, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, hindgut, mandible, maxilla, midgut, oesophagus, olfactory, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, rib, skeletal muscle, spinal cord, stomach, tibia, trigeminal V, ureter, vagus X, valve, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|615856
IPC-div2	MYO10	0.692428334	2.32E-06	Motor protein	BrainSpLMD|4651;Eurexp|euxassay_009373|mantle layer, marginal layer, thymus primordium, trigeminal V, ventricular layer	OMIM|601481
IPC-div2	RANP1	0.330409138	2.33E-06			
IPC-div2	CDKAL1	0.401335145	2.34E-06	Unclassified	BrainSpLMD|54901;Eurexp|euxassay_005580|olfactory	OMIM|611259
IPC-div2	MRPL51	0.783412742	2.39E-06	Ribosomal subunit	BrainSpLMD|51258	OMIM|611855
IPC-div2	CARHSP1	0.695375854	2.46E-06	Calcium binding protein	BrainSpLMD|23589	OMIM|616885
IPC-div2	LSM5	1.104742675	2.50E-06	RNA binding protein	BrainSpLMD|23658;Eurexp|euxassay_001693|cortex, oesophagus, thymus primordium, ventricular layer	OMIM|607285
IPC-div2	FBLN1	0.640724903	2.51E-06	Extracellular matrix protein	BrainSpLMD|2192;Eurexp|euxassay_011935|bladder, meninges, mesenchyme, midgut, nasal cavity, stomach, valve	OMIM|135820;HPO|2192|Autosomal dominant inheritance, Carpal synostosis, Metacarpal synostosis, Metatarsal synostosis, Polydactyly, Tarsal synostosis, Toe syndactyly
IPC-div2	TICRR	1.753718771	2.52E-06	Unclassified	BrainSpLMD|90381	OMIM|613298
IPC-div2	C14orf132	0.547902904	2.67E-06	Unclassified	BrainSpLMD|56967	
IPC-div2	BANF1	0.571756902	2.74E-06	DNA binding protein	BrainSpLMD|8815	OMIM|603811;HPO|8815|Abnormality of the forearm, Abnormality of the ribs, Atherosclerosis, Autosomal recessive inheritance, Convex nasal ridge, Delayed closure of the anterior fontanelle, Dental crowding, Failure to thrive, Flexion contracture, Joint stiffness, Lipoatrophy, Malar flattening, Micrognathia, Midface retrusion, Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Progressive clavicular acroosteolysis, Proptosis, Pulmonary arterial hypertension, Right bundle branch block, Scoliosis, Short stature, Sinus tachycardia, Sparse and thin eyebrow, Sparse eyelashes, Spotty hyperpigmentation, Wide cranial sutures
IPC-div2	NONO	0.762955077	2.80E-06	RNA binding protein	BrainSpLMD|4841;Eurexp|euxassay_006509|embryo	OMIM|300084;COSMIC||papillary renal;HPO|4841|Aggressive behavior, Ataxia, Dental crowding, Frontal bossing, Generalized hypotonia, Hallux valgus, High, narrow palate, Increased head circumference, Intellectual disability, Joint laxity, Kyphosis, Left ventricular noncompaction, Long face, Malar flattening, Mild global developmental delay, Motor delay, Myopia, Narrow mouth, Nasal speech, Neonatal hypotonia, Open mouth, Patent ductus arteriosus, Patent foramen ovale, Perseveration, Pes planus, Prominent nose, Right ventricular hypertrophy, Scoliosis, Seizures, Slender build, Strabismus, Thickened calvaria, Tremor, Upslanted palpebral fissure, Ventricular septal defect, X-linked recessive inheritance
IPC-div2	SSRP1	0.552030642	2.86E-06	Transcription factor	BrainSpLMD|6749;BrainSpMouseDev|20595	OMIM|604328
IPC-div2	FOXRED2	1.372480887	2.90E-06	Enzyme: Oxidoreductase	BrainSpLMD|80020	OMIM|613777
IPC-div2	MPDU1	0.969857253	2.92E-06	Integral membrane protein	BrainSpLMD|9526	OMIM|604041;HPO|9526|Abnormality of vision, Absent speech, Ataxia, Autosomal recessive inheritance, Cerebral atrophy, Cognitive impairment, Congenital onset, Dry skin, Erythroderma, Failure to thrive, Flexion contracture, Generalized hypotonia, Global developmental delay, Hyperkeratosis, Microcephaly, Muscular hypotonia, Nystagmus, Optic atrophy, Scaling skin, Seizures, Strabismus
IPC-div2	CALU	0.647358008	3.06E-06	Calcium binding protein	BrainSpLMD|813	OMIM|603420
IPC-div2	NUP62	0.693446001	3.08E-06	Transport/cargo protein	BrainSpLMD|23636	OMIM|605815;HPO|23636|Autosomal recessive inheritance, Choreoathetosis, Developmental regression, Developmental stagnation, Dysphagia, Dystonia, Failure to thrive, Intellectual disability, Optic atrophy, Pendular nystagmus, Spasticity
IPC-div2	ZNF43	0.655698674	3.08E-06	DNA binding protein	BrainSpLMD|7594	OMIM|603972
IPC-div2	COL4A5	0.834611056	3.11E-06	Extracellular matrix protein	BrainSpLMD|1287;Eurexp|euxassay_015894|bladder, ductus deferens, floorplate, lens, lung, meninges, stomach, sublingual gland primordium, submandibular gland primordium, thyroid, umbilical artery, umbilical vein, urethra, ventricular layer;BrainSpMouseDev|12613	OMIM|303630;HPO|1287|Anterior lenticonus, Congenital cataract, Corneal erosion, Diffuse glomerular basement membrane lamellation, Diffuse leiomyomatosis, Heterogeneous, Hypertension, Hypoparathyroidism, Ichthyosis, Microscopic hematuria, Myopia, Nephritis, Nephrotic syndrome, Progressive, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidney disease, Thickening of the glomerular basement membrane, Thrombocytopenia, X-linked dominant inheritance
IPC-div2	GPC6	1.012373473	3.17E-06	Growth factor	BrainSpLMD|10082	SFARI||Autism, 4 - Minimal evidence;OMIM|604404;HPO|10082|Anterolateral radial head dislocation, Atrial septal defect, Autosomal recessive inheritance, Axillary pterygia, Blepharophimosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Fibular hypoplasia, Flat face, Frontal bossing, Hemangioma, Hypoplastic distal humeri, Increased fibular diameter, Limited elbow extension, Limited elbow flexion, Limited elbow flexion/extension, Limited hip movement, Limited knee extension, Limited knee flexion, Limited knee flexion/extension, Long philtrum, Malar flattening, Micrognathia, Popliteal pterygium, Pulmonary artery stenosis, Rhizomelia, Short humerus, Short neck, Short nose, Short tibia, Umbilical hernia, Ventricular septal defect, Wide nasal bridge
IPC-div2	MFAP2	0.869252508	3.22E-06	Extracellular matrix protein	BrainSpLMD|4237;Eurexp|euxassay_002967|skeleton	OMIM|156790
IPC-div2	VEZF1	0.408833851	3.27E-06	Transcription factor	BrainSpLMD|7716	OMIM|606747
IPC-div2	MSH2	0.731967821	3.36E-06	DNA repair protein	BrainSpLMD|4436;Eurexp|euxassay_001494|dorsal root ganglion	OMIM|609309;COSMIC||colorectal, endometrial, ovarian, colorectal, endometrial, ovarian;HPO|4436|Abdominal pain, Abnormality of abdomen morphology, Adenoma sebaceum, Anxiety, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary freckling, Basal cell carcinoma, Benign gastrointestinal tract tumors, Benign genitourinary tract neoplasm, Breast carcinoma, Cafe-au-lait spot, Colon cancer, Colonic diverticula, Constipation, Death in early adulthood, Death in infancy, Depressivity, Duodenal adenocarcinoma, Ependymoma, Fatigue, Gastrointestinal hemorrhage, Glioblastoma, Hypermelanotic macule, Hypertonia, Increased intracranial pressure, Irritability, Laryngeal carcinoma, Leukemia, Lymphoma, Malabsorption, Malignant genitourinary tract tumor, Medulloblastoma, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Neoplasm of the stomach, Neuroblastoma, Rhabdomyosarcoma, Sebaceous gland carcinoma, Seizures, Weight loss
IPC-div2	HMGXB4	0.771162197	3.38E-06	DNA binding protein	BrainSpLMD|10042;BrainSpMouseDev|46664	OMIM|604702
IPC-div2	XRCC4	0.517035899	3.41E-06	DNA repair protein	BrainSpLMD|7518	OMIM|194363;HPO|7518|Abnormality of chromosome stability, Abnormality of lipid metabolism, Acanthosis nigricans, Acute leukemia, Autosomal recessive inheritance, Biparietal narrowing, Bird-like facies, Brachycephaly, Broad nasal tip, Broad-based gait, Cerebellar vermis atrophy, Cognitive impairment, Convex nasal ridge, Cortical gyral simplification, Cryptorchidism, Cutaneous photosensitivity, Deeply set eye, Delayed speech and language development, Diabetes mellitus, Dysarthria, Dysdiadochokinesis, Dysmetria, Ectopic kidney, Epicanthus, Erythema, Global developmental delay, Growth delay, Hepatic steatosis, High forehead, High pitched voice, Hypertriglyceridemia, Hypotelorism, Hypothyroidism, Inguinal hernia, Insulin resistance, Insulin-resistant diabetes mellitus, Intellectual disability, Intrauterine growth retardation, Large beaked nose, Limb undergrowth, Long face, Long nose, Low anterior hairline, Lymphoma, Lymphopenia, Malar prominence, Microcephaly, Micrognathia, Micropenis, Misalignment of teeth, Nystagmus, Pancytopenia, Primary gonadal insufficiency, Prominent nasal bridge, Renal hypoplasia, Sensory neuropathy, Severe combined immunodeficiency, Severe short-limb dwarfism, Short chin, Short stature, Sloping forehead, Telecanthus, Thin vermilion border, Triangular face, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Wide nasal bridge
IPC-div2	AGO1	0.85698394	3.43E-06	Translation regulatory protein	BrainSpLMD|26523;Eurexp|euxassay_012863|facial VII, incisor, mantle layer, marginal layer, molar, neural retina, olfactory, trigeminal V, ventricular layer	OMIM|606228
IPC-div2	PRKDC	0.55319097	3.45E-06	Serine/threonine kinase;DNA repair protein	BrainSpLMD|5591;Eurexp|euxassay_009524|thymus primordium	SFARI||Autism, 4 - Minimal evidence;OMIM|600899;HPO|5591|Autosomal recessive inheritance, Infantile onset, Microcephaly, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Severe combined immunodeficiency
IPC-div2	TMEM194A	1.406809949	3.63E-06			
IPC-div2	RSRC1	0.48552462	3.63E-06	Unclassified	BrainSpLMD|51319	OMIM|613352
IPC-div2	GLO1	0.776165671	3.69E-06	Enzyme: Lyase	BrainSpLMD|2739	SFARI||Autism, 4 - Minimal evidence;OMIM|138750
IPC-div2	SCRN1	0.897153449	3.82E-06	Protease	BrainSpLMD|9805;Eurexp|euxassay_012592|cervical, cervico-thoracic, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, penis, thoracic, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII	OMIM|614965
IPC-div2	CPLX2	2.020237682	3.93E-06	Unclassified	BrainSpLMD|10814	OMIM|605033
IPC-div2	LSM3	0.542538	3.96E-06	RNA binding protein	BrainSpLMD|27258	OMIM|607283
IPC-div2	VKORC1	0.923356899	3.99E-06	Enzyme: Reductase;Coagulation factor	BrainSpLMD|79001;Eurexp|euxassay_000753|Meckel's cartilage, chondrocranium, incisor, molar	OMIM|608547;HPO|79001|Abnormal bleeding, Abnormality of blood and blood-forming tissues, Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Autosomal recessive inheritance, Reduced factor IX activity, Reduced factor VII activity, Reduced factor X activity, Reduced prothrombin activity
IPC-div2	LINC01224	0.994444207	4.07E-06			
IPC-div2	RBM15	0.858959692	4.10E-06	RNA binding protein	BrainSpLMD|64783	OMIM|606077;COSMIC||acute megakaryocytic leukaemia
IPC-div2	NUDT15	0.673456247	4.14E-06	Enzyme: Hydrolase	BrainSpLMD|55270;Eurexp|euxassay_007037|embryo	OMIM|615792
IPC-div2	NDUFA6	0.50998556	4.18E-06	Enzyme: Oxidoreductase	BrainSpLMD|4700	OMIM|602138
IPC-div2	IQGAP1	0.95387475	4.34E-06	GTPase activating protein	BrainSpLMD|8826;Eurexp|euxassay_010153|choroid plexus, epithelium, hindgut, lung, mandible, metanephros, midgut, oral epithelium, orbito-sphenoid, vibrissa	OMIM|603379
IPC-div2	PPIF	1.225956434	4.84E-06	Enzyme: Isomerase	BrainSpLMD|10105	OMIM|604486
IPC-div2	MYB	0.930200249	5.11E-06	Transcription factor	BrainSpLMD|4602;Eurexp|euxassay_018173|choroid plexus, cortex, epithelium, hindgut, incisor, lobe, marginal layer, midgut, naris, neural retina, olfactory, oral epithelium, pancreas, pituitary, rectum, stomach, submandibular gland primordium, thymus primordium, urethra, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|17630	OMIM|189990;COSMIC||adenoid cystic carcinoma
IPC-div2	ZNF100	0.857311717	5.25E-06	DNA binding protein	BrainSpLMD|163227	OMIM|603982
IPC-div2	CDCA4	1.81132693	5.30E-06	Unclassified	BrainSpLMD|55038	OMIM|612270
IPC-div2	EXOSC8	0.761363975	5.40E-06	Ribonuclease	BrainSpLMD|11340	OMIM|606019;HPO|11340|Autosomal recessive inheritance, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Failure to thrive, Feeding difficulties, Global developmental delay, Hearing impairment, Hypoplasia of the corpus callosum, Muscle weakness, Respiratory failure, Spastic tetraparesis, Spinal muscular atrophy, Visual impairment
IPC-div2	SFXN5	1.429963383	5.44E-06	Transport/cargo protein	BrainSpLMD|94097;Eurexp|euxassay_014475|ventricular layer	OMIM|615572
IPC-div2	PSMA4	0.549659789	5.53E-06	Ubiquitin proteasome system protein	BrainSpLMD|5685	OMIM|176846
IPC-div2	GRAMD1B	1.347911602	5.72E-06	Integral membrane protein	BrainSpLMD|57476;Eurexp|euxassay_016918|medulla, testis	
IPC-div2	TMSB4XP1	0.47657179	5.76E-06	-	BrainSpLMD|7115	
IPC-div2	FAM178A	0.805214141	5.84E-06			
IPC-div2	MZT1	1.209201735	5.86E-06	Unclassified		OMIM|613448
IPC-div2	GSTP1	0.582942874	5.91E-06	Enzyme: Glutathione transferase	BrainSpLMD|2950;Eurexp|euxassay_006221|lobe	OMIM|134660
IPC-div2	SHMT2	1.180607212	5.92E-06	Enzyme: Methyltransferase	BrainSpLMD|6472;Eurexp|euxassay_001650|axial skeleton, neural retina, nucleus pulposus, orbito-sphenoid, pituitary, submandibular gland primordium, vibrissa	OMIM|138450
IPC-div2	TWSG1	0.494753259	5.96E-06	Secreted polypeptide	BrainSpLMD|57045	OMIM|605049
IPC-div2	CHEK2	1.662391252	6.22E-06	Serine/threonine kinase	BrainSpLMD|11200;Eurexp|euxassay_012795|liver, ventricular layer	OMIM|604373;COSMIC||breast;HPO|11200|Abnormal lactate dehydrogenase activity, Abnormality of metabolism/homeostasis, Abnormality of the fallopian tube, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphysis, Autosomal dominant inheritance, Breast carcinoma, Elevated alkaline phosphatase, Glioma, Joint swelling, Lymphoma, Meningioma, Neoplasm of the adrenal cortex, Neoplasm of the colon, Neoplasm of the nervous system, Neoplasm of the pancreas, Neoplasm of the skin, Osteolysis, Osteosarcoma, Ovarian neoplasm, Pain, Primary peritoneal carcinoma, Progressive encephalopathy, Retinoblastoma, Sarcoma, Stomach cancer
IPC-div2	SRSF2	0.461305656	6.33E-06	Ribonucleoprotein	BrainSpLMD|6427	OMIM|600813;COSMIC||MDS, CLL
IPC-div2	LAPTM4A	0.830942011	6.44E-06	Membrane transport protein	BrainSpLMD|9741	
IPC-div2	RP11.206F17.2	1.879513514	6.76E-06			
IPC-div2	ILF3	0.696617985	6.76E-06	Transcription factor;RNA binding protein	BrainSpLMD|3609	OMIM|603182
IPC-div2	HAUS8	1.257279683	6.90E-06	Unclassified	BrainSpLMD|93323	OMIM|613434
IPC-div2	POLR2L	0.845803005	7.06E-06	RNA polymerase	BrainSpLMD|5441;Eurexp|euxassay_019574|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, liver, lung, midgut, nucleus pulposus, oesophagus, pancreas, stomach, submandibular gland primordium, testis, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|601189
IPC-div2	RNF168	0.831771766	7.14E-06	Transcription regulatory protein	BrainSpLMD|165918	OMIM|612688;HPO|165918|Abnormal facial shape, Ataxia, Autosomal recessive inheritance, Dry skin, IgG deficiency, Immunodeficiency, Increased sensitivity to ionizing radiation, Mild global developmental delay, Short stature
IPC-div2	COMMD4	0.544816244	7.31E-06	Unclassified	BrainSpLMD|54939	OMIM|616701
IPC-div2	MYH10	0.465304671	7.34E-06	Structural protein	BrainSpLMD|4628;Eurexp|euxassay_009369|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system;BrainSpMouseDev|53419	OMIM|160776
IPC-div2	RPS3	0.25677124	7.71E-06	Ribosomal subunit		OMIM|600454
IPC-div2	LDLRAD3	1.662525984	8.44E-06	Unclassified	BrainSpLMD|143458;Eurexp|euxassay_011393|dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, stomach, trigeminal V, vagus X, vestibulocochlear VIII	
IPC-div2	LZTS1	0.613140716	8.51E-06	Unclassified	BrainSpLMD|11178;Eurexp|euxassay_011133|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|84266	OMIM|606551;HPO|11178|Autosomal dominant inheritance, Squamous cell carcinoma
IPC-div2	CCNA2	1.197469365	8.60E-06	Cell cycle control protein	BrainSpLMD|890	OMIM|123835
IPC-div2	TMEM38B	1.062801338	8.73E-06	Integral membrane protein	BrainSpLMD|55151	OMIM|611236;HPO|55151|Autosomal recessive inheritance, Osteopenia, Recurrent fractures
IPC-div2	DCLRE1A	1.344592205	8.75E-06	DNA repair protein	BrainSpLMD|9937	OMIM|609682
IPC-div2	CKB	0.696738863	9.05E-06	Enzyme: Phosphotransferase	BrainSpLMD|1152;Eurexp|euxassay_011493|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lung, mandible, mantle layer, maxilla, midgut, neural retina, oesophagus, olfactory, rectum, sternum, stomach, trigeminal V, ventral grey horn, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ, wall	OMIM|123280
IPC-div2	ASAP2	0.264359371	9.36E-06	GTPase activating protein	BrainSpLMD|8853	OMIM|603817
IPC-div2	NSMCE4A	0.44247433	9.39E-06	Unclassified	BrainSpLMD|54780	OMIM|612987
IPC-div2	RHOBTB3	1.023256939	9.44E-06	GTPase	BrainSpLMD|22836;Eurexp|euxassay_004272|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|607353
IPC-div2	CWF19L1	0.89135165	9.47E-06	Unclassified	BrainSpLMD|55280	OMIM|616120;HPO|55280|Autosomal recessive inheritance, Dysarthria, Dysmetria, Generalized hypotonia, Global developmental delay, Infantile onset, Intellectual disability, Nonprogressive, Slow progression, Tremor, Truncal ataxia, Unsteady gait
IPC-div2	RPP30	0.715467592	9.51E-06	Ribonuclease	BrainSpLMD|10556;Eurexp|euxassay_006550|liver, lung, metanephros, olfactory, pancreas, primitive seminiferous tubules, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|606115
IPC-div2	CELSR1	1.959103048	9.65E-06	G protein coupled receptor	BrainSpLMD|9620;BrainSpMouseDev|12399	OMIM|604523
IPC-div2	SIVA1	0.890893645	9.88E-06	Unclassified;Cell surface receptor	BrainSpLMD|10572	OMIM|605567
IPC-div2	CPSF3	0.643111781	1.00E-05	RNA binding protein	BrainSpLMD|51692	OMIM|606029
IPC-div2	CTC.260E6.6	1.052802329	1.00E-05			
IPC-div2	SLBP	1.105715323	1.00E-05	RNA binding protein	BrainSpLMD|7884;Eurexp|euxassay_009988|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|602422
IPC-div2	NEUROG2	1.695594982	1.02E-05	Transcription factor	BrainSpLMD|63973;Eurexp|euxassay_017863|lateral wall, mantle layer, neural retina, roof plate, ventricular layer;BrainSpMouseDev|11710	OMIM|606624
IPC-div2	RNASEH2B	0.467812097	1.03E-05	Unclassified	BrainSpLMD|79621;Eurexp|euxassay_004223|4th ventricle, liver, lung, thymus primordium, ventricular layer	OMIM|610326;HPO|79621|Arrhinencephaly, Autosomal recessive inheritance, Basal ganglia calcification, Cerebral atrophy, Chronic CSF lymphocytosis, Cleft eyelid, Encephalopathy, Hemiplegia/hemiparesis, Intellectual disability, profound, Porencephalic cyst, Spasticity, Variable expressivity
IPC-div2	PTMAP5	0.435557875	1.08E-05			
IPC-div2	GLI2	0.694421843	1.08E-05	Transcription factor	BrainSpLMD|2736;Eurexp|euxassay_008920|marginal layer, ventricular layer;BrainSpMouseDev|14409	OMIM|165230;HPO|2736|Abnormal cortical gyration, Abnormal prolactin level, Abnormality of secondary sexual hair, Agenesis of incisor, Amenorrhea, Anophthalmia, Anterior pituitary agenesis, Anterior pituitary hypoplasia, Aplasia/Hypoplasia of the breasts, Autosomal dominant inheritance, Bilateral cleft lip and palate, Cryptorchidism, Decreased circulating ACTH level, Decreased testicular size, Dental malocclusion, Depressed nasal bridge, Depressed nasal ridge, Ectopic posterior pituitary, Fatigue, Global developmental delay, Growth hormone deficiency, Holoprosencephaly, Hydrocephalus, Hypoglycemia, Hypogonadotrophic hypogonadism, Hypopituitarism, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Hypotelorism, Hypotension, Incomplete penetrance, Infertility, Macrotia, Malar flattening, Microcephaly, Micropenis, Microphthalmia, Midface retrusion, Optic nerve hypoplasia, Osteopenia, Panhypopituitarism, Partial agenesis of the corpus callosum, Pituitary hypothyroidism, Postaxial hand polydactyly, Prominent antihelix, Seizures, Short hard palate, Short philtrum, Short stature, Single median maxillary incisor, Single naris, Sporadic, Underdeveloped tragus, Variable expressivity
IPC-div2	ZNF718	0.529974915	1.15E-05	Unclassified	BrainSpLMD|255403	
IPC-div2	MGME1	0.605839217	1.17E-05	Unclassified	BrainSpLMD|92667	OMIM|615076;HPO|92667|Autosomal recessive inheritance, Dysphonia, Dyspnea, Easy fatigability, Elevated serum creatine phosphokinase, Exercise intolerance, Facial palsy, Generalized amyotrophy, Hypergonadotropic hypogonadism, Hyporeflexia, Kyphosis, Nasal speech, Progressive, Progressive external ophthalmoplegia, Proximal amyotrophy, Ptosis, Recurrent infections, Respiratory insufficiency, Spinal deformities, Spinal rigidity
IPC-div2	RFC2	1.114295865	1.17E-05	DNA binding protein	BrainSpLMD|5982	OMIM|600404;HPO|5982|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the neck, Anxiety, Arthralgia, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad forehead, Cerebral ischemia, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Dental malocclusion, Depressivity, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Epicanthus, Everted lower lip vermilion, Failure to thrive in infancy, Gait imbalance, Genu valgum, Hallux valgus, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Inguinal hernia, Insomnia, Intellectual disability, Joint stiffness, Kyphosis, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Microcephaly, Microdontia, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Open bite, Overfriendliness, Pelvic kidney, Periorbital edema, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Proteinuria, Protruding ear, Pulmonic stenosis, Redundant skin, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Visual impairment, Wide mouth, Wide nasal bridge
IPC-div2	CTPS1	1.66043502	1.18E-05	Enzyme: Ligase	BrainSpLMD|1503	OMIM|123860;HPO|1503|Autosomal recessive inheritance, Defective T cell proliferation, Immunodeficiency, Immunoglobulin IgG2 deficiency, Lymphopenia, Severe viral infections
IPC-div2	SRSF10	0.692953505	1.18E-05	RNA binding protein	Eurexp|euxassay_000064|adenohypophysis, cardiac muscle, endocardial lining, limb, vertebral axis muscle system	OMIM|605221
IPC-div2	GPRC5B	0.773420204	1.19E-05	G protein coupled receptor	BrainSpLMD|51704;BrainSpMouseDev|40898	OMIM|605948
IPC-div2	RWDD4P2	2.177288496	1.21E-05			
IPC-div2	GLYATL1P2	0.894772154	1.26E-05			
IPC-div2	CREB5	0.534650738	1.30E-05	Transcription factor	BrainSpLMD|9586;Eurexp|euxassay_016386|axial skeleton, oral epithelium	
IPC-div2	MSI1	0.594527144	1.30E-05	RNA binding protein	BrainSpLMD|4440	OMIM|603328
IPC-div2	AC013727.1	0.475985127	1.31E-05			
IPC-div2	AC004447.2	1.037493766	1.31E-05			
IPC-div2	E2F8	1.745537781	1.32E-05	Transcription factor	BrainSpLMD|79733;BrainSpMouseDev|73120	OMIM|612047
IPC-div2	CTCF	0.627856942	1.35E-05	Transcription regulatory protein	BrainSpLMD|10664	SFARI||Autism, 3 - Suggestive evidence;OMIM|604167;COSMIC||endometrial, breast, head and neck cancer, Mental retardation, autosomal dominant 21;HPO|10664|Abnormality of the dentition, Autosomal dominant inheritance, Cryptorchidism, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hypermetropia, Intellectual disability, Microcephaly, Short stature, Strabismus, Thin vermilion border
IPC-div2	CCNF	1.866110654	1.40E-05	Cell cycle control protein	BrainSpLMD|899;Eurexp|euxassay_002325|lobe, ventricular layer	OMIM|600227;HPO|899|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
IPC-div2	ACOT9	1.171794622	1.41E-05	Enzyme: Esterase	BrainSpLMD|23597;Eurexp|euxassay_001726|dorsal root ganglion, trigeminal V, vagus X	OMIM|300862
IPC-div2	ACLY	0.437505592	1.42E-05	ATPase	BrainSpLMD|47;Eurexp|euxassay_018561|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, medulla, molar, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|108728
IPC-div2	RP11.138A9.1	1.029510837	1.42E-05			
IPC-div2	CELSR2	0.724651949	1.43E-05	G protein coupled receptor	BrainSpLMD|1952;Eurexp|euxassay_008296|brain, spinal cord, vibrissa;BrainSpMouseDev|33178	OMIM|604265
IPC-div2	RAN	0.627960463	1.46E-05	GTPase	BrainSpLMD|5901	OMIM|601179
IPC-div2	MAPK1IP1L	0.339382443	1.49E-05	Unclassified	BrainSpLMD|93487	OMIM|617226
IPC-div2	LRRCC1	0.586053555	1.49E-05	Unclassified	BrainSpLMD|85444;Eurexp|euxassay_007263|Meckel's cartilage, aortic valve, basisphenoid bone, exoccipital bone, mitral valve, orbito-sphenoid, skeletal muscle, temporal bone, tricuspid valve, turbinate bones, vault of skull	OMIM|617791
IPC-div2	HNRNPL	0.835454152	1.52E-05	Ribonucleoprotein	BrainSpLMD|3191	OMIM|603083
IPC-div2	AP3B1	0.656769912	1.53E-05	Adapter molecule	BrainSpLMD|8546	OMIM|603401;HPO|8546|Aberrant melanosome maturation, Acetabular dysplasia, Albinism, Autosomal recessive inheritance, Carious teeth, Coarse facial features, Congenital onset, Fair hair, Hepatomegaly, Hip dysplasia, Intellectual disability, mild, Long philtrum, Low-set ears, Microcephaly, Motor delay, Neutropenia, Nystagmus, Ocular albinism, Periodontitis, Photophobia, Posteriorly rotated ears, Pulmonary fibrosis, Recurrent bacterial infections, Reduced visual acuity, Smooth philtrum, Splenomegaly, Strabismus, Thin upper lip vermilion, Thrombocytopenia, Upslanted palpebral fissure, Visual impairment, Wide nasal bridge
IPC-div2	DOT1L	0.926029344	1.56E-05	Enzyme: Methyltransferase	BrainSpLMD|84444	OMIM|607375
IPC-div2	CDK2AP1	0.750931555	1.59E-05	Unclassified	BrainSpLMD|8099	OMIM|602198
IPC-div2	TBC1D31	0.958168642	1.59E-05	Unclassified	BrainSpLMD|93594	SFARI||Autism, No category
IPC-div2	RAD54L	1.214271438	1.63E-05	DNA binding protein	BrainSpLMD|8438;Eurexp|euxassay_001626|cortex, incisor, marginal layer, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|603615;HPO|8438|Lymphoma
IPC-div2	ZNF93	1.060018526	1.71E-05	Transcription regulatory protein	BrainSpLMD|81931	OMIM|603975
IPC-div2	KIF20A	0.610548975	1.77E-05	Motor protein	BrainSpLMD|10112;Eurexp|euxassay_004675|ventricular layer	OMIM|605664
IPC-div2	ZNF714	0.937446368	1.81E-05	DNA binding protein	BrainSpLMD|148206	
IPC-div2	MTAP	1.252264531	1.82E-05	Enzyme: Phosphorylase	BrainSpLMD|4507;Eurexp|euxassay_003372|axial muscle, cranium, incisor, mantle layer, marginal layer, orbito-sphenoid, submandibular gland primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|156540
IPC-div2	CCDC14	0.428220056	1.83E-05	Transport/cargo protein	BrainSpLMD|64770	OMIM|617147
IPC-div2	MTHFD1	0.697321937	1.90E-05	Enzyme: Dehydrogenase	BrainSpLMD|4522;Eurexp|euxassay_004845|axial muscle, fundus, incisor, left, left lung, lumen, molar, oesophagus, pancreas, right, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|172460
IPC-div2	RDX	0.314782023	1.99E-05	Cytoskeletal associated protein	BrainSpLMD|5962	OMIM|179410;HPO|5962|Autosomal recessive inheritance, Infantile onset, Profound sensorineural hearing impairment
IPC-div2	CENPC	0.256882059	2.04E-05	DNA binding protein	BrainSpLMD|1060	OMIM|117141
IPC-div2	DAXX	0.553473367	2.09E-05	Adapter molecule	BrainSpLMD|1616	OMIM|603186;COSMIC||pancreatic neuroendocrine tumour, paediatric glioblastoma
IPC-div2	AASS	0.412312927	2.13E-05	Enzyme: Oxidoreductase;Enzyme: Synthase	BrainSpLMD|10157	OMIM|605113;HPO|10157|Abnormality of the genitourinary system, Anemia, Autosomal recessive inheritance, Cognitive impairment, Delayed speech and language development, EEG abnormality, Ectopia lentis, Histidinuria, Hyperactivity, Hyperlysinemia, Hyperlysinuria, Infantile onset, Intellectual disability, Intellectual disability, mild, Muscular hypotonia, Phenotypic variability, Seizures, Short attention span, Short stature, Spastic diplegia
IPC-div2	CDCA3	1.099157166	2.29E-05	Unclassified	BrainSpLMD|83461;Eurexp|euxassay_004852|cortex, left, marginal layer, mesenchyme, olfactory, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventral grey horn, ventricular layer	OMIM|607749
IPC-div2	PSMC3IP	0.926893755	2.31E-05	Unclassified;DNA binding protein	BrainSpLMD|29893;Eurexp|euxassay_003149|incisor, molar, submandibular gland primordium, ventricular layer, vibrissa	OMIM|608665;HPO|29893|Aplasia/Hypoplasia of the breasts, Aplasia/hypoplasia of the uterus, Autosomal recessive inheritance, Decreased fertility, Decreased serum estradiol, Delayed puberty, Delayed skeletal maturation, Gonadal dysgenesis, Increased circulating gonadotropin level, Osteopenia, Osteoporosis of vertebrae, Premature ovarian insufficiency, Primary amenorrhea, Sparse pubic hair, Streak ovary
IPC-div2	JKAMP	0.583403703	2.34E-05	Integral membrane protein	BrainSpLMD|51528;Eurexp|euxassay_009285|brain, spinal cord, trigeminal V	OMIM|611176
IPC-div2	OTUD3	0.73123398	2.34E-05	Unclassified	Eurexp|euxassay_011140|axial skeleton, olfactory, pancreas, vomeronasal organ	OMIM|611758
IPC-div2	RP3.418C23.2	1.043630475	2.35E-05			
IPC-div2	HMGB3	0.800200459	2.38E-05	DNA binding protein	BrainSpLMD|3149;BrainSpMouseDev|15129	OMIM|300193;HPO|3149|Abnormality of the pinna, Anteverted ears, Coloboma, Esotropia, Global developmental delay, Intellectual disability, Microcephaly, Microcornea, Microphthalmia, Pendular nystagmus, Ptosis, Short stature, X-linked inheritance
IPC-div2	ARHGAP33	0.36456056	2.53E-05	Unclassified	BrainSpLMD|115703	SFARI||Autism, 5 - Hypothesized but untested;OMIM|614902
IPC-div2	RBMXP2	0.453172405	2.56E-05			
IPC-div2	AC004381.6	0.874226424	2.60E-05			
IPC-div2	CCT7	0.457710915	2.60E-05	Chaperone	BrainSpLMD|10574	OMIM|605140
IPC-div2	POLR2I	0.858321322	2.67E-05	RNA polymerase	BrainSpLMD|5438	OMIM|180662
IPC-div2	DBF4	0.417009646	2.71E-05	Cell cycle control protein	BrainSpLMD|10926;Eurexp|euxassay_012740|ventricular layer	OMIM|604281
IPC-div2	RPN2	0.733370779	2.72E-05	Enzyme: Glycosyltransferase	BrainSpLMD|6185;Eurexp|euxassay_018263|embryo	OMIM|180490
IPC-div2	BAZ1A	0.891144782	2.73E-05	DNA binding protein	BrainSpLMD|11177	OMIM|605680
IPC-div2	TUBBP1	0.555164468	2.74E-05			
IPC-div2	C2CD3	0.929659362	2.77E-05	Unclassified	BrainSpLMD|26005	OMIM|615944;HPO|26005|Abnormal facial shape, Absent speech, Aplasia of the epiglottis, Autosomal recessive inheritance, Bifid tongue, Cleft palate, Congenital onset, Hamartoma of tongue, Hypoplasia of the corpus callosum, Increased number of teeth, Intellectual disability, Intellectual disability, severe, Lobulated tongue, Microcephaly, Micropenis, Molar tooth sign on MRI, Postaxial polydactyly, Telecanthus, Trigonocephaly, Upslanted palpebral fissure
IPC-div2	FOXP4	1.101998169	2.77E-05	DNA binding protein	BrainSpLMD|116113;Eurexp|euxassay_001657|axial skeleton, basioccipital bone, basisphenoid bone, mantle layer, mesenchyme, orbito-sphenoid, pectoral girdle and thoracic body wall, rib, stomach, turbinate, ventral grey horn, ventricular layer;BrainSpMouseDev|49964	OMIM|608924
IPC-div2	TEAD1	0.528901838	2.77E-05	Transcription factor	BrainSpLMD|7003;BrainSpMouseDev|21437	OMIM|189967;HPO|7003|Astigmatism, Autosomal dominant inheritance, Myopia, Peripapillary chorioretinal atrophy, Slow progression
IPC-div2	RP11.138A9.2	0.66376698	2.79E-05			
IPC-div2	ELAVL2	0.581431865	2.85E-05	RNA binding protein	BrainSpLMD|1993;Eurexp|euxassay_005246|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, oesophagus, olfactory, pharynx, respiratory, retina, spinal cord, stomach, testis, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|601673
IPC-div2	GPX4	0.651118281	2.88E-05	Enzyme: Peroxidase	BrainSpLMD|2879	OMIM|138322;HPO|2879|11 pairs of ribs, Abnormality of the ribs, Abnormality of the scapula, Arrhythmia, Atrial septal defect, Atrioventricular block, Autosomal recessive inheritance, Brachydactyly, Cardiorespiratory arrest, Cerebellar hypoplasia, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped metacarpal epiphyses, Cupped ribs, Delayed epiphyseal ossification, Delayed skeletal maturation, Depressed nasal bridge, Flared iliac wings, Flat acetabular roof, Focal lissencephaly, Generalized hypotonia, Iliac crest serration, Irregular tarsal bones, Large posterior fontanelle, Long fibula, Metaphyseal chondrodysplasia, Metaphyseal cupping, Metaphyseal irregularity, Muscular hypotonia, Narrow chest, Narrow greater sacrosciatic notches, Platyspondyly, Porencephalic cyst, Posteriorly rotated ears, Redundant skin, Rhizomelia, Rhizomelic arm shortening, Short finger, Short long bone, Short metacarpal, Short neck, Short palm, Short phalanx of finger, Short ribs, Short toe, Spondylometaphyseal dysplasia, Talipes equinovarus, Turricephaly, Widened sacrosciatic notch
IPC-div2	RMI1	0.801473421	3.02E-05	Unclassified	BrainSpLMD|80010	OMIM|610404
IPC-div2	HNRNPUL1	1.027156399	3.24E-05	RNA binding protein	BrainSpLMD|11100	OMIM|605800
IPC-div2	NDE1	0.574673719	3.27E-05	Cytoskeletal associated protein	BrainSpLMD|54820;Eurexp|euxassay_010375|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ;BrainSpMouseDev|43046	OMIM|609449;HPO|54820|Agenesis of corpus callosum, Athetosis, Autosomal recessive inheritance, Cerebellar hypoplasia, Congenital onset, Cortical gyral simplification, Generalized myoclonic seizures, Global developmental delay, Hydranencephaly, Hyperreflexia, Hypoplasia of the brainstem, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Lissencephaly, Macrotia, Microcephaly, Multiple joint contractures, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Proptosis, Seizures, Self-mutilation, Short stature, Skeletal muscle atrophy, Sloping forehead, Spastic tetraplegia, Talipes equinovarus, Ventriculomegaly
IPC-div2	CACNA2D1	0.35892093	3.28E-05	Voltage gated channel	BrainSpLMD|781;Eurexp|euxassay_006438|dorsal grey horn, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, pituitary, skeletal muscle, trigeminal V, ventral grey horn, vertebral axis muscle system;BrainSpMouseDev|12078	OMIM|114204;HPO|781|Atrial fibrillation, Bradycardia, Palpitations, Shortened QT interval
IPC-div2	SETBP1	0.449968393	3.31E-05	Transcription regulatory protein	BrainSpLMD|26040	SFARI||Autism, 3 - Suggestive evidence;OMIM|611060;COSMIC||aCML, sAML, MDS/MPN-U, CMML, JMML, neuroepithelial tumours;HPO|26040|Abnormality of the nasopharynx, Absent speech, Anteverted nares, Aplasia/Hypoplasia of the pubic bone, Atrial septal defect, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bicornuate uterus, Brachycephaly, Broad ribs, Cerebral atrophy, Choanal stenosis, Coarse facial features, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Facial hemangioma, Failure to thrive, Hepatoblastoma, High forehead, High palate, Hydronephrosis, Hydroureter, Hyperconvex nail, Hypertelorism, Hypertrichosis, Hypoplasia of first ribs, Hypoplasia of the corpus callosum, Hypoplastic labia majora, Hypoplastic labia minora, Hypoplastic nipples, Hypospadias, Hypsarrhythmia, Increased density of long bones, Intellectual disability, Long clavicles, Long face, Low-set ears, Macroglossia, Malar flattening, Metopic suture patent to nasal root, Micropenis, Midface retrusion, Motor delay, Narrow palate, Opisthotonus, Pointed chin, Postaxial hand polydactyly, Postnatal growth retardation, Prominent forehead, Ptosis, Sacrococcygeal teratoma, Sclerosis of skull base, Scrotal hypoplasia, Seizures, Shallow orbits, Short 1st metacarpal, Short distal phalanx of finger, Short neck, Short nose, Short sternum, Single transverse palmar crease, Sloping forehead, Synophrys, Talipes equinovarus, Thickened cortex of long bones, Thin upper lip vermilion, Tibial bowing, Ureteral stenosis, Ventriculomegaly, Wide distal femoral metaphysis, Widely patent fontanelles and sutures, Wormian bones
IPC-div2	10-Sep	0.535949032	3.32E-05			
IPC-div2	FRYL	0.67834892	3.35E-05	Unclassified	BrainSpLMD|285527;Eurexp|euxassay_000255|incisor, molar, submandibular gland primordium	
IPC-div2	PA2G4	0.431185037	3.39E-05	Transcription regulatory protein	BrainSpLMD|5036	OMIM|602145
IPC-div2	STARD9	0.922863273	3.49E-05	Unclassified		OMIM|614642
IPC-div2	ADNP2	1.192243621	3.71E-05	DNA binding protein	BrainSpLMD|22850;BrainSpMouseDev|88720	OMIM|617422
IPC-div2	ZNF492	0.527594636	3.85E-05	Transcription factor		
IPC-div2	NEK2	0.980940499	3.86E-05	Serine/threonine kinase	BrainSpLMD|4751	OMIM|604043;HPO|4751|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
IPC-div2	RPA2	0.628309962	3.93E-05	DNA binding protein	BrainSpLMD|6118;Eurexp|euxassay_004500|marginal layer, ventricular layer	OMIM|179836
IPC-div2	WAPAL	0.615057752	3.94E-05			
IPC-div2	FAM136A	1.337502727	3.97E-05	Transcription regulatory protein	BrainSpLMD|84908;Eurexp|euxassay_003220|Meckel's cartilage, adrenal gland, axial muscle, cortex, dorsal root ganglion, glomeruli, hindgut, incisor, left lung, midgut, orbito-sphenoid, pancreas, rectum, right lung, stomach, submandibular gland primordium, thymus primordium, trachea, vibrissa	OMIM|616275
IPC-div2	CMPK1	0.981624829	4.00E-05	Enzyme: Phosphotransferase	BrainSpLMD|51727	OMIM|191710
IPC-div2	CDK6	0.511005333	4.03E-05	Cell cycle control protein	BrainSpLMD|1021	OMIM|603368;COSMIC||ALL;HPO|1021|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Cortical gyral simplification, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
IPC-div2	PARPBP	0.848060729	4.18E-05	Unclassified	BrainSpLMD|55010	OMIM|613687
IPC-div2	EIF2S2	0.965781619	4.21E-05	Translation regulatory protein	BrainSpLMD|8894	OMIM|603908
IPC-div2	OMD	0.96865905	4.23E-05	Adhesion molecule	BrainSpLMD|4958	COSMIC||aneurysmal bone cyst
IPC-div2	RIF1	0.556819748	4.23E-05	DNA binding protein	BrainSpLMD|55183	OMIM|608952
IPC-div2	UBR7	1.140957593	4.25E-05	Unclassified	BrainSpLMD|55148	SFARI||Autism, 5 - Hypothesized but untested;OMIM|613816
IPC-div2	ANAPC11	0.761064121	4.25E-05	Enzyme: Ligase	BrainSpLMD|51529	OMIM|614534
IPC-div2	SRI	0.298816121	4.31E-05	Calcium binding protein	BrainSpLMD|6717	OMIM|182520
IPC-div2	POU3F3	0.279933964	4.32E-05	Transcription factor	BrainSpLMD|5455;Eurexp|euxassay_019559|axial skeleton, ductus deferens, inner ear, larynx, lip, loop, lower, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, nasal septum, palatal shelf, penis, phalanx, rectum, skeletal muscle, trigeminal V, upper, ventricular layer;BrainSpMouseDev|18756	OMIM|602480
IPC-div2	EEF1B2	0.403362433	4.36E-05	Translation regulatory protein	BrainSpLMD|1933	OMIM|600655
IPC-div2	RP11.436D23.1	0.394277768	4.55E-05			
IPC-div2	POLD2	0.925550749	4.59E-05	DNA polymerase	BrainSpLMD|5425	OMIM|600815
IPC-div2	DERA	0.775470648	4.61E-05	Enzyme: Lyase	BrainSpLMD|51071	
IPC-div2	CIPC	0.506004925	4.64E-05	Unclassified	BrainSpLMD|85457	OMIM|616995
IPC-div2	FAM200B	1.403787055	4.71E-05	-		
IPC-div2	GPANK1	0.649738394	4.73E-05	Unclassified	BrainSpLMD|7918	OMIM|142610
IPC-div2	CSNK2B	0.348451847	4.86E-05	Serine/threonine kinase	BrainSpLMD|1460;BrainSpMouseDev|12784	OMIM|115441
IPC-div2	NUP188	0.493819309	4.87E-05	Unclassified		OMIM|615587
IPC-div2	EML1	1.222499346	4.99E-05	Structural protein	BrainSpLMD|2009	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602033;HPO|2009|Agenesis of corpus callosum, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Intellectual disability, severe, Macrocephaly, Polymicrogyria, Seizures, Sleep disturbance, Spasticity
IPC-div2	ATRAID	0.628207037	5.25E-05	Unclassified	BrainSpLMD|51374	
IPC-div2	DLL1	0.861730471	5.31E-05	Calcium binding protein	BrainSpLMD|28514;Eurexp|euxassay_014876|anterior, calyces, diaphragm, extrinsic, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, intrinsic, marginal layer, midgut, olfactory, olfactory lobe, paraxial mesenchyme, rectum, rest of mesenchyme, retina, stomach, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|13167	OMIM|606582
IPC-div2	ASRGL1	0.31288359	5.32E-05	Unclassified	BrainSpLMD|80150;Eurexp|euxassay_000035|central nervous system, corpus striatum, ventricular layer	OMIM|609212
IPC-div2	FAM149B1	0.373356782	5.33E-05	Unclassified	BrainSpLMD|317662	
IPC-div2	IGF2BP3	0.4117595	5.33E-05	Translation regulatory protein	BrainSpLMD|10643;Eurexp|euxassay_006316|embryo	OMIM|608259
IPC-div2	HNRNPF	0.768979852	5.34E-05	Ribonucleoprotein	BrainSpLMD|3185	OMIM|601037
IPC-div2	EMX2	0.388846548	5.37E-05	Transcription factor	BrainSpLMD|2018;Eurexp|euxassay_019479|eyelid, lip, mantle layer, metanephros, olfactory, paramesonephric duct, phalanx, saccule, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|13575	OMIM|600035;HPO|2018|Schizencephaly
IPC-div2	BRD3	0.665322878	5.47E-05	Transcription regulatory protein	BrainSpLMD|8019	OMIM|601541;COSMIC||lethal midline carcinoma of young people
IPC-div2	DAAM1	0.387457317	5.49E-05	Unclassified	BrainSpLMD|23002;BrainSpMouseDev|84026	OMIM|606626
IPC-div2	RHNO1	0.760659435	5.54E-05	Unclassified	BrainSpLMD|83695;Eurexp|euxassay_001503|cortex, neural retina, ventricular layer	OMIM|614085
IPC-div2	GPR125	0.458162781	5.59E-05			
IPC-div2	UQCRC1	1.182990416	5.60E-05	Enzyme: Reductase	BrainSpLMD|7384;Eurexp|euxassay_018647|axial muscle, bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, mantle layer, metanephros, right lung, submandibular gland primordium, trigeminal V, vagus X, ventral grey horn, vibrissa	OMIM|191328
IPC-div2	OARD1	0.866809046	5.64E-05	Unclassified	BrainSpLMD|221443	OMIM|614393
IPC-div2	TDP1	1.147457587	5.67E-05	Enzyme: Phosphodiesterase	BrainSpLMD|55775	OMIM|607198;HPO|55775|Ataxia, Autosomal recessive inheritance, Distal amyotrophy, Peripheral axonal neuropathy, Pes cavus, Steppage gait
IPC-div2	PIN4P1	1.279998514	5.68E-05			
IPC-div2	RPS20P14	0.275436178	5.93E-05			
IPC-div2	TOR1A	1.79571183	5.96E-05	Chaperone	BrainSpLMD|1861	OMIM|605204;HPO|1861|Abnormal posturing, Abnormality of the voice, Autosomal dominant inheritance, Blepharospasm, Depressivity, Dysarthria, Gait disturbance, Generalized hypotonia, Hyperlordosis, Hypertonia, Kyphosis, Scoliosis, Torsion dystonia, Torticollis, Tremor, Writer's cramp
IPC-div2	PRDX2	0.458823355	6.02E-05	Enzyme: Peroxidase	BrainSpLMD|7001;Eurexp|euxassay_006304|embryo	OMIM|600538
IPC-div2	THOC3	0.598287242	6.14E-05	RNA binding protein		OMIM|606929
IPC-div2	TMEM258	0.32744113	6.23E-05	Integral membrane protein	BrainSpLMD|746	OMIM|617615
IPC-div2	DSCC1	1.368384059	6.43E-05	Cell cycle control protein	BrainSpLMD|79075;Eurexp|euxassay_000048|diencephalon, tegmentum, telencephalon, ventricular layer	OMIM|613203
IPC-div2	ZFP91	0.75341798	6.65E-05	Transcription factor	BrainSpLMD|80829	
IPC-div2	ELP6	1.220541711	6.72E-05	Unclassified	BrainSpLMD|54859	OMIM|615020
IPC-div2	GABARAP	0.360970374	6.74E-05	Unclassified	BrainSpLMD|11337	OMIM|605125
IPC-div2	AK2	0.861925067	6.88E-05	Enzyme: Phosphotransferase	BrainSpLMD|204;Eurexp|euxassay_001711|axial muscle, cortex, foregut-midgut junction, hindgut, lobe, midgut, molar, nucleus pulposus, orbito-sphenoid, rectum, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|103020;HPO|204|Abnormality of mitochondrial metabolism, Abnormality of neutrophils, Abnormality of the thymus, Absent cellular immunity, Anemia, Aplasia/Hypoplasia of the thymus, Autosomal recessive inheritance, Cellular immunodeficiency, Chronic otitis media, Congenital agranulocytosis, Decreased antibody level in blood, Diarrhea, Failure to thrive, Fever, Hearing impairment, Leukopenia, Lymphopenia, Malabsorption, Recurrent respiratory infections, Sepsis, Severe combined immunodeficiency, Weight loss
IPC-div2	NT5DC2	0.768694543	6.90E-05	Unclassified	BrainSpLMD|64943;Eurexp|euxassay_009884|axial muscle, bladder, choroid plexus, cortex, lung, mandible, mantle layer, maxilla, neural retina, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, thyroid, turbinate bones, vault of skull, ventricular layer	
IPC-div2	PRIM2	0.998117927	7.18E-05	RNA polymerase	BrainSpLMD|5558;Eurexp|euxassay_018428|incisor, left, marginal layer, molar, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|176636
IPC-div2	CEP192	0.459238471	7.37E-05	Cytoskeletal protein	BrainSpLMD|55125	OMIM|616426
IPC-div2	TULP3	1.083992335	7.54E-05	Transcription regulatory protein	BrainSpLMD|7289	OMIM|604730
IPC-div2	RTTN	0.963255025	7.56E-05	Unclassified	BrainSpLMD|25914	OMIM|610436;HPO|25914|Abnormality of the corpus callosum, Autosomal recessive inheritance, Dysarthria, EEG abnormality, Intellectual disability, moderate, Microcephaly, Mild short stature, Polymicrogyria, Poor speech, Seizures
IPC-div2	UCK2	0.92511984	7.57E-05	Enzyme: Phosphotransferase	BrainSpLMD|7371;Eurexp|euxassay_002578|axial muscle, incisor, neural retina, orbito-sphenoid, pectoral girdle and thoracic body wall, stroma, submandibular gland primordium, thymus primordium, vibrissa	OMIM|609329
IPC-div2	SLIRP	0.352001898	7.60E-05	RNA binding protein	BrainSpLMD|81892	OMIM|610211
IPC-div2	CHCHD3	0.56870057	7.68E-05	Unclassified	BrainSpLMD|54927;Eurexp|euxassay_001805|lobe, orbito-sphenoid, thymus primordium	OMIM|613748
IPC-div2	TEX30	1.352006166	7.70E-05	Unclassified	BrainSpLMD|93081;Eurexp|euxassay_007574|ventricular layer	
IPC-div2	SIPA1L2	0.68586143	7.74E-05	GTPase activating protein	BrainSpLMD|57568;Eurexp|euxassay_006320|mantle layer, marginal layer, thymus primordium, ventricular layer;BrainSpMouseDev|89268	OMIM|611609
IPC-div2	FNIP2	0.501576931	7.85E-05	Unclassified		OMIM|612768
IPC-div2	SHROOM3	0.583904929	7.94E-05	Adapter molecule	BrainSpLMD|57619;Eurexp|euxassay_012216|cortex, midgut, olfactory, ventricular layer, vertebral axis muscle system	OMIM|604570
IPC-div2	TEAD2	1.48262469	8.08E-05	Transcription factor	BrainSpLMD|8463;Eurexp|euxassay_004972|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, olfactory lobe, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|21438	OMIM|601729
IPC-div2	CCT5	0.359574902	8.08E-05	Chaperone	BrainSpLMD|22948	OMIM|610150;HPO|22948|Abnormality of the foot, Acral ulceration and osteomyelitis leading to autoamputation of digits, Atrophy of the spinal cord, Autosomal recessive inheritance, Babinski sign, Clonus, Decreased circulating low-density lipoprotein levels, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment, Distal sensory loss of all modalities, Hypocholesterolemia, Infantile onset, Juvenile onset, Peripheral axonal neuropathy, Spastic gait, Spastic paraplegia
IPC-div2	CUX1	0.261437187	8.29E-05	Transcription regulatory protein	BrainSpLMD|1523;BrainSpMouseDev|12828	SFARI||Autism, 3 - Suggestive evidence;OMIM|116896;COSMIC||endometrial, melanoma, colorectal, AML, MDS, other tumour types
IPC-div2	NRM	0.999581876	8.35E-05	Unclassified	BrainSpLMD|11270;Eurexp|euxassay_002983|chondrocranium, nasal capsule, orbito-sphenoid, turbinate, ventricular layer	
IPC-div2	CLIP1	0.80573739	8.43E-05	Structural protein	BrainSpLMD|6249	OMIM|179838;COSMIC||Spitzoid tumour
IPC-div2	PTPRK	0.480934701	8.52E-05	Receptor tyrosine phosphatase	BrainSpLMD|5796;Eurexp|euxassay_009627|mantle layer, marginal layer, midgut, stomach, ventral grey horn, vibrissa;BrainSpMouseDev|19035	OMIM|602545;COSMIC||colorectal
IPC-div2	MRPL37	1.185257815	8.68E-05	Ribosomal subunit	BrainSpLMD|51253	OMIM|611843
IPC-div2	CTD.3099C6.9	1.233207579	8.69E-05			
IPC-div2	CDK11B	0.619791636	9.01E-05	Cell cycle control protein		OMIM|176873
IPC-div2	TMEM237	0.906742658	9.04E-05	Unclassified	BrainSpLMD|65062	OMIM|614423;HPO|65062|Apnea, Ataxia, Autistic behavior, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Coloboma, Dandy-Walker malformation, Deeply set eye, Downslanted palpebral fissures, Encephalocele, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, High forehead, Highly arched eyebrow, Hydrocephalus, Hypertelorism, Hypertension, Intellectual disability, Intellectual disability, severe, Iris coloboma, Irritability, Long face, Low-set ears, Low-set, posteriorly rotated ears, Malar flattening, Microphthalmia, Molar tooth sign on MRI, Morning glory anomaly, Muscular hypotonia, Nephropathy, Nystagmus, Oculomotor apraxia, Open mouth, Postaxial polydactyly, Posteriorly rotated ears, Prominent nasal bridge, Ptosis, Renal cyst, Retinal dystrophy, Short philtrum, Strabismus, Tachypnea, Tented upper lip vermilion
IPC-div2	PRTFDC1	1.14238577	9.06E-05	Unclassified	BrainSpLMD|56952	OMIM|610751
IPC-div2	FDPS	0.908351195	9.67E-05	Enzyme: Prenyltransferase	BrainSpLMD|2224;Eurexp|euxassay_005185|adenohypophysis, adrenal gland, axial skeleton, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, limb, liver, lung, mandible, maxilla, mesenchyme, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, paraxial mesenchyme, rectum, retina, skeletal muscle, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|134629;HPO|2224|Cutaneous photosensitivity, Porokeratosis
IPC-div2	WDR1	0.745785869	9.78E-05	Unclassified	BrainSpLMD|9948	OMIM|604734
IPC-div2	SPATA5	0.901003611	9.85E-05	ATPase	BrainSpLMD|166378	OMIM|613940;HPO|166378|Absent speech, Autosomal recessive inheritance, EEG abnormality, Feeding difficulties, Global developmental delay, Intellectual disability, Intellectual disability, severe, Limb hypertonia, Microcephaly, Muscular hypotonia of the trunk, Seizures, Sensorineural hearing impairment, Spasticity
IPC-div2	EID1	0.36231645	9.95E-05	Cell cycle control protein	BrainSpLMD|23741	OMIM|605894
IPC-div2	NDUFS6	1.357490101	0.000101376	Enzyme: Dehydrogenase	BrainSpLMD|4726;Eurexp|euxassay_005964|embryo	OMIM|603848;HPO|4726|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
IPC-div2	PMF1	0.919402092	0.000101905	Transcription regulatory protein	BrainSpLMD|11243	OMIM|609176
IPC-div2	MOB1A	0.723090844	0.000102042	Unclassified	BrainSpLMD|55233	OMIM|609281
IPC-div2	CBFA2T2	0.737114006	0.000102071	Transcription factor	BrainSpLMD|9139;Eurexp|euxassay_019496|lung, marginal layer, neural retina, olfactory, pituitary, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|12181	OMIM|603672
IPC-div2	SALL1	0.43321233	0.000102145	Transcription factor	BrainSpLMD|6299;Eurexp|euxassay_000198|basal columns, corpus striatum, epithelium, floor plate, floorplate, glomeruli, handplate, head mesenchyme, intermediate grey horn, isthmus, lateral wall, mantle layer, marginal layer, medulla oblongata, mesenchyme, olfactory, pars tuberalis, penis, skin, telencephalon, thyroid, ventral grey horn, ventricular layer;BrainSpMouseDev|37230	OMIM|602218;HPO|6299|2-3 toe syndactyly, 3-4 finger syndactyly, 3-4 toe syndactyly, Anal atresia, Anal stenosis, Anteriorly placed anus, Aplasia/Hypoplasia of the 3rd toe, Autosomal dominant inheritance, Bifid scrotum, Bifid uterus, Broad thumb, Chorioretinal coloboma, Clinodactyly of the 5th finger, Constipation, Cryptorchidism, Duodenal atresia, External ear malformation, Gastroesophageal reflux, Hearing impairment, Hypospadias, Hypothyroidism, Intellectual disability, Macrotia, Metatarsal synostosis, Microcephaly, Microtia, Overfolded helix, Overfolding of the superior helices, Partial duplication of thumb phalanx, Pes planus, Preauricular skin tag, Preaxial hand polydactyly, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Rectovaginal fistula, Renal insufficiency, Satyr ear, Short metatarsal, Stahl ear, Subcutaneous nodule, Tetralogy of Fallot, Toe clinodactyly, Triphalangeal thumb, Umbilical hernia, Urethral valve, Ventricular septal defect
IPC-div2	NUP85	0.371556438	0.000103313	Anchor protein		OMIM|170285
IPC-div2	IQCB1	0.986302054	0.000103398	Unclassified	BrainSpLMD|9657;Eurexp|euxassay_012492|ventricle, ventricular layer	OMIM|609237;HPO|9657|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Aplasia/Hypoplasia of the cerebellar vermis, Autosomal recessive inheritance, Cataract, Encephalocele, Global developmental delay, Hemiplegia/hemiparesis, Heterogeneous, Hypertension, Keratoconus, Muscular hypotonia, Nephronophthisis, Nystagmus, Premature ovarian insufficiency, Progressive visual loss, Retinal dystrophy, Rod-cone dystrophy, Seizures, Severe visual impairment, Short stature, Stage 5 chronic kidney disease, Visual impairment
IPC-div2	DCXR	1.317776514	0.000107286	Enzyme: Oxidoreductase	BrainSpLMD|51181	OMIM|608347
IPC-div2	ANP32A	0.808272933	0.000107368	MHC complex protein	BrainSpLMD|8125;Eurexp|euxassay_005670|embryo	OMIM|600832
IPC-div2	GPR56	0.770274718	0.000107473			
IPC-div2	PCIF1	0.75758694	0.000109083	Transcription regulatory protein	BrainSpLMD|63935	
IPC-div2	FAM213A	0.311325519	0.000109766	Unclassified	BrainSpLMD|84293;Eurexp|euxassay_008864|bladder, brain, calyces, cervical, cervico-thoracic, cochlea, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, incisor, left lung, liver, lung, midgut, molar, naris, nasal cavity, naso-lacrimal duct, olfactory, pelvis, pharyngo-tympanic tube, rectum, retina, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thoracic, trigeminal V, ureter, utricle, vagus X, vestibulocochlear VIII, vibrissa	OMIM|617165
IPC-div2	ZNF300	0.30121687	0.000114511	DNA binding protein	BrainSpLMD|91975	OMIM|612429
IPC-div2	RWDD4	2.864953969	0.000115249	Unclassified	BrainSpLMD|201965	
IPC-div2	FMNL3	0.850782463	0.000117464	Unclassified	BrainSpLMD|91010	OMIM|616288
IPC-div2	PPP2R3C	0.417406949	0.000120247	Calcium binding protein	BrainSpLMD|55012	OMIM|615902
IPC-div2	RPLP1	0.313010258	0.000120886	Ribosomal subunit		OMIM|180520
IPC-div2	RP5.1085F17.3	0.306124869	0.000121854			
IPC-div2	CCDC34	0.4316494	0.000127854	Unclassified	BrainSpLMD|91057	OMIM|612324
IPC-div2	SLC4A7	0.438527839	0.000128202	Transport/cargo protein	BrainSpLMD|9497	OMIM|603353
IPC-div2	SNW1	0.673939777	0.000131789	Transcription regulatory protein	BrainSpLMD|22938;Eurexp|euxassay_019554|axial muscle, lung, mantle layer, marginal layer, metanephros, midgut, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa;BrainSpMouseDev|42197	OMIM|603055
IPC-div2	SNHG1	0.547613629	0.00013347			OMIM|603222
IPC-div2	DHX15	1.03592776	0.000136243	RNA binding protein	BrainSpLMD|1665	OMIM|603403
IPC-div2	LBR	0.339100499	0.000138228	Integral membrane protein	BrainSpLMD|3930	OMIM|600024;HPO|3930|11 pairs of ribs, Abnormal foot bone ossification, Abnormal joint morphology, Abnormal lung lobation, Abnormal ossification involving the femoral head and neck, Abnormal pelvis bone ossification, Abnormal vertebral ossification, Abnormality of cholesterol metabolism, Abnormality of chromosome segregation, Abnormality of leukocytes, Abnormality of the calcaneus, Abnormality of the gastric mucosa, Abnormality of the scapula, Abnormality of the vertebral spinous processes, Absent or minimally ossified vertebral bodies, Absent toenail, Anterior rib punctate calcifications, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Barrel-shaped chest, Biliary cirrhosis, Bone marrow hypocellularity, Bowing of the long bones, Brachydactyly, Broad palm, Calcinosis, Calcinosis cutis, Calvarial skull defect, Cardiomegaly, Cystic hygroma, Decreased skull ossification, Depressed nasal bridge, Diaphyseal thickening, Disproportionate short-limb short stature, Dysphagia, Elevated alkaline phosphatase, Elevated hepatic transaminases, Epiphyseal stippling, Extramedullary hematopoiesis, Fatigue, Fever, Flared metaphysis, Gastroesophageal reflux, Gastrointestinal hemorrhage, Global developmental delay, Hepatic calcification, Hepatomegaly, Hepatosplenomegaly, High forehead, Horizontal sacrum, Hyperbilirubinemia, Hypertelorism, Hypoplasia of the maxilla, Hypoplastic fingernail, Hypoplastic vertebral bodies, Hyposegmentation of neutrophil nuclei, Intestinal malrotation, Irregular hyperpigmentation, Jaundice, Keratoconjunctivitis sicca, Laryngeal calcification, Lethal skeletal dysplasia, Lip telangiectasia, Long clavicles, Low-set ears, Lymphedema, Macrocephaly, Malar flattening, Mesomelia, Metaphyseal cupping, Micrognathia, Micromelia, Midface retrusion, Misalignment of teeth, Mucosal telangiectasiae, Multiple prenatal fractures, Myalgia, Narrow chest, Neonatal death, Nonimmune hydrops fetalis, Omphalocele, Palmar telangiectasia, Pancreatic islet-cell hyperplasia, Patchy variation in bone mineral density, Platyspondyly, Pleural effusion, Polydactyly, Polyhydramnios, Postaxial foot polydactyly, Postaxial hand polydactyly, Preeclampsia, Prominent forehead, Pruritus, Pulmonary hypoplasia, Punctate vertebral calcifications, Raynaud phenomenon, Rhizomelia, Sandal gap, Sclerodactyly, Scleroderma, Sclerosis of skull base, Severe hydrops fetalis, Severe short-limb dwarfism, Short diaphyses, Short phalanx of finger, Short ribs, Skin rash, Skin ulcer, Splenomegaly, Steatorrhea, Sternal punctate calcifications, Stillbirth, Supernumerary vertebral ossification centers, Telangiectasia of the skin, Tracheal calcification, Ulnar deviation of the hand, Xerostomia
IPC-div2	NUP205	0.894834283	0.000138234	Unclassified		OMIM|614352;HPO|23165|Autosomal recessive inheritance, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome
IPC-div2	COX17	0.482243268	0.000138714	Chaperone		OMIM|604813
IPC-div2	PPIA	0.329913045	0.000140601	Enzyme: Isomerase	BrainSpLMD|5478	OMIM|123840
IPC-div2	CCDC167	0.528936899	0.000150031	Unclassified		
IPC-div2	AMOTL1	0.909604676	0.000150545	Cell junction protein	BrainSpLMD|154810;BrainSpMouseDev|51564	OMIM|614657
IPC-div2	PPME1	0.465362951	0.000153881	Enzyme: Methyltransferase	BrainSpLMD|51400;Eurexp|euxassay_003617|bladder, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, incisor, olfactory, penis, respiratory, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|611117
IPC-div2	KIF26B	1.501599958	0.000156428	Unclassified	BrainSpLMD|55083;Eurexp|euxassay_016415|dorsal root ganglion, extrinsic ocular muscle, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, metanephros, nasal septum, penis, trigeminal V, ventral grey horn	OMIM|614026
IPC-div2	KCTD20	1.012731666	0.00015691	Unclassified	BrainSpLMD|222658;Eurexp|euxassay_010084|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, vagus X	OMIM|615932
IPC-div2	HNRNPM	0.602015629	0.000158472	Ribonucleoprotein	BrainSpLMD|4670	OMIM|160994
IPC-div2	ELP4	0.771360657	0.000166248	Enzyme: Acyltransferase	BrainSpLMD|26610	SFARI||Autism, 3 - Suggestive evidence;OMIM|606985;HPO|26610|Aniridia, Autosomal dominant inheritance, Cataract, Glaucoma, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Nystagmus, Opacification of the corneal stroma, Optic nerve hypoplasia
IPC-div2	C4orf27	0.512983407	0.000170971			
IPC-div2	RP11.69L16.5	0.266078095	0.000174583			
IPC-div2	STT3A	0.532059939	0.000175977	Integral membrane protein	BrainSpLMD|3703;Eurexp|euxassay_004591|clavicle, mandible, maxilla, orbito-sphenoid, rib, turbinate bones	OMIM|601134;HPO|3703|Abnormal glycosylation, Autosomal recessive inheritance, Cerebellar atrophy, Congenital onset, Cryptorchidism, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Impaired smooth pursuit, Intellectual disability, Microcephaly, Micropenis, Scrotal hypoplasia, Seizures
IPC-div2	CASP8AP2	0.250593154	0.000180782	Adapter molecule	BrainSpLMD|9994;Eurexp|euxassay_002768|calyces, incisor, skeleton, submandibular gland primordium, ventricular layer, vibrissa	OMIM|606880
IPC-div2	TCF3	0.574850128	0.000186046	Transcription factor	BrainSpLMD|6929;BrainSpMouseDev|21184	OMIM|147141;COSMIC||pre B-ALL;HPO|6929|Agammaglobulinemia, Arthritis, Autosomal dominant inheritance, B lymphocytopenia, Chronic otitis media, Conjunctivitis, Cough, Diarrhea, Failure to thrive, Fatigue, Fever, Immunodeficiency, Infantile onset, Osteomyelitis, Recurrent respiratory infections, Recurrent skin infections, Sinusitis, Skin rash
IPC-div2	ACTL6A	0.251053828	0.000186224	DNA binding protein	BrainSpLMD|86;Eurexp|euxassay_013581|cortex, epithelium, incisor, left lung, liver, molar, olfactory, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|604958
IPC-div2	CNBP	0.260539794	0.00019176	RNA binding protein	BrainSpLMD|7555	OMIM|116955;COSMIC||aneurysmal bone cyst;HPO|7555|Autosomal dominant inheritance, Cataract, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, Elevated serum creatine phosphokinase, Frontal balding, Hypogonadism, IgG deficiency, IgM deficiency, Insulin insensitivity, Iridescent posterior subcapsular cataract, Myalgia, Myotonia, Neck flexor weakness, Oligospermia, Palpitations, Proximal muscle weakness, Tachycardia, Type 2 muscle fiber atrophy
IPC-div2	KHSRP	0.539563748	0.000198763	Transcription regulatory protein	BrainSpLMD|8570	OMIM|603445
IPC-div2	PSMD8	0.758421214	0.000203894	Ubiquitin proteasome system protein	BrainSpLMD|5714;Eurexp|euxassay_006093|epidermis, naris, nose, urethra, vibrissa	
IPC-div2	H3F3AP4	0.586964558	0.000204323			
IPC-div2	HNRNPA1P48	0.30172938	0.000204929			
IPC-div2	NETO2	0.443338142	0.000210038	Integral membrane protein	BrainSpLMD|81831;Eurexp|euxassay_009406|mantle layer, marginal layer	OMIM|607974
IPC-div2	RFC5	0.859815606	0.000212343	DNA binding protein	BrainSpLMD|5985	OMIM|600407
IPC-div2	SMAD9	0.317361733	0.000212925	Transcription factor;Unclassified	BrainSpLMD|4093;BrainSpMouseDev|35279	OMIM|603295;HPO|4093|Autosomal dominant inheritance, Incomplete penetrance, Increased pulmonary vascular resistance, Progressive, Pulmonary arterial hypertension
IPC-div2	ZMIZ1	0.370705899	0.000213749	Unclassified	BrainSpLMD|57178	OMIM|607159
IPC-div2	FBL	0.479990571	0.000214247	Ribonucleoprotein	BrainSpLMD|2091;Eurexp|euxassay_002909|submandibular gland primordium	OMIM|134795
IPC-div2	HDLBP	0.583201809	0.000214663	Transport/cargo protein;RNA binding protein	BrainSpLMD|3069	OMIM|142695
IPC-div2	PIN1	0.570540218	0.000214733	Enzyme: Isomerase	BrainSpLMD|5300;Eurexp|euxassay_001562|nucleus pulposus, thymus primordium	OMIM|601052
IPC-div2	PKP4	0.630624868	0.000217685	Cell junction protein	BrainSpLMD|8502	OMIM|604276
IPC-div2	CHCHD2	0.448482814	0.000220197	Unclassified	BrainSpLMD|51142;Eurexp|euxassay_002441|diaphragm, head mesenchyme, tongue, ventricle, vertebral axis muscle system	OMIM|616244
IPC-div2	NUP214	0.273310125	0.000220727	Transport/cargo protein	BrainSpLMD|8021	OMIM|114350;COSMIC||AML, T-ALL;HPO|8021|Acute lymphoblastic leukemia, Polygenic inheritance
IPC-div2	ZNF142	0.983089046	0.000220764	DNA binding protein	BrainSpLMD|7701	OMIM|604083
IPC-div2	KIAA1143	0.55811422	0.00022131	Unclassified		
IPC-div2	SPCS2P4	0.489093482	0.00022163			
IPC-div2	NME4	0.984532577	0.000227255	Enzyme: Phosphotransferase	BrainSpLMD|4833	OMIM|601818
IPC-div2	POU2F1	0.527729273	0.000232914	Transcription factor	BrainSpLMD|5451;BrainSpMouseDev|18749	OMIM|164175
IPC-div2	CPSF6	0.4222691	0.000234847	RNA binding protein	BrainSpLMD|11052	OMIM|604979
IPC-div2	XPO1	0.377749773	0.000235328	Transport/cargo protein	BrainSpLMD|7514	SFARI||Autism, 4 - Minimal evidence;OMIM|602559;COSMIC||CLL
IPC-div2	EIF2S2P4	0.793905	0.000235424			
IPC-div2	SH3PXD2B	1.310196537	0.000238654	Unclassified	BrainSpLMD|285590;Eurexp|euxassay_014164|clavicle, mandible, mantle layer, maxilla, orbito-sphenoid, palatal shelf	OMIM|613293;HPO|285590|Abnormality of the metacarpal bones, Acne, Anterior concavity of thoracic vertebrae, Aseptic necrosis, Autosomal recessive inheritance, Beaking of vertebral bodies, Bowing of the long bones, Brachydactyly, Broad clavicles, Broad forehead, Broad nasal tip, Buphthalmos, Camptodactyly of finger, Clinodactyly of the 5th finger, Coarse facial features, Cortical irregularity, Deeply set eye, Delayed cranial suture closure, Delayed eruption of teeth, Dental malocclusion, Depressed nasal bridge, Downslanted palpebral fissures, Flared metaphysis, Flat occiput, Full cheeks, Genu recurvatum, Gingival overgrowth, Growth delay, High forehead, High palate, Hip dysplasia, Hypertelorism, Joint stiffness, Kyphosis, Large eyes, Low-set ears, Mandibular prognathia, Metatarsus adductus, Micrognathia, Mitral valve prolapse, Osteolysis, Osteopenia, Osteoporosis, Pectus excavatum, Premature loss of teeth, Prominent coccyx, Prominent forehead, Proptosis, Protruding ear, Scoliosis, Short long bone, Short phalanx of finger, Short philtrum, Talipes equinovarus, Thick vermilion border, Thickened skin, Wide anterior fontanel, Wide mouth, Wide nasal bridge, Wormian bones
IPC-div2	SHFM1	0.344510643	0.000239261			
IPC-div2	CEP135	0.647705242	0.00024419	Unclassified	BrainSpLMD|9662	SFARI||Autism, 3 - Suggestive evidence;OMIM|611423;HPO|9662|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Congenital onset, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, severe, Microcephaly, Pachygyria, Retrognathia, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
IPC-div2	PLCB1	0.270777938	0.000249635	Enzyme: Phospholipase	BrainSpLMD|23236	SFARI||Autism, 3 - Suggestive evidence;OMIM|607120;HPO|23236|Abnormality of skin morphology, Autosomal recessive inheritance, Developmental regression, Epileptic encephalopathy, Focal seizures, Generalized seizures, Hyperreflexia, Hypsarrhythmia, Infantile spasms, Muscular hypotonia of the trunk, Myoclonus, Spasticity
IPC-div2	ENOSF1	1.389457516	0.000249894	Enzyme: Ligase	BrainSpLMD|55556	OMIM|607427
IPC-div2	FUCA2	0.667385575	0.000251414	Enzyme: Hydrolase	BrainSpLMD|2519;Eurexp|euxassay_016437|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	OMIM|136820
IPC-div2	FIGNL1	0.849696938	0.000251672	Unclassified	BrainSpLMD|63979;Eurexp|euxassay_004690|ventricular layer	OMIM|615383
IPC-div2	VBP1	0.487695409	0.000251782	Chaperone	BrainSpLMD|7411	OMIM|300133
IPC-div2	EEF1D	0.697679886	0.000258726	Guanine nucleotide exchange factor	BrainSpLMD|1936	OMIM|130592
IPC-div2	KCTD15	1.24016976	0.000266798	Ion channel	BrainSpLMD|79047	OMIM|615240
IPC-div2	SKA2	0.377306629	0.000269361	Unclassified	BrainSpLMD|348235;Eurexp|euxassay_007512|left lung, metanephros, olfactory, retina, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|616674
IPC-div2	DBR1	1.493954561	0.000270444	Enzyme: Hydrolase	BrainSpLMD|51163;Eurexp|euxassay_003456|adrenal gland, central nervous system, dorsal root ganglion, epidermis, facial VII, glossopharyngeal IX, incisor, liver, lung, metanephros, midgut, molar, naris, olfactory, pancreas, respiratory, stomach, stroma, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|607024
IPC-div2	PIK3R3	0.417035812	0.000272026	Adapter molecule	BrainSpLMD|8503	OMIM|606076
IPC-div2	BAZ1B	0.95803737	0.000290546	Transcription regulatory protein	BrainSpLMD|9031	OMIM|605681;HPO|9031|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the neck, Anxiety, Arthralgia, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad forehead, Cerebral ischemia, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Dental malocclusion, Depressivity, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Epicanthus, Everted lower lip vermilion, Failure to thrive in infancy, Gait imbalance, Genu valgum, Hallux valgus, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Inguinal hernia, Insomnia, Intellectual disability, Joint stiffness, Kyphosis, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Microcephaly, Microdontia, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Open bite, Overfriendliness, Pelvic kidney, Periorbital edema, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Proteinuria, Protruding ear, Pulmonic stenosis, Redundant skin, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Visual impairment, Wide mouth, Wide nasal bridge
IPC-div2	FAM60A	0.698066211	0.00029122			
IPC-div2	CHD4	0.935586755	0.000291996	DNA binding protein	BrainSpLMD|1108	OMIM|603277;COSMIC||uterine serous carcinoma;HPO|1108|Abnormality of the cardiac septa, Abnormality of the clavicle, Ambiguous genitalia, Anteriorly placed anus, Arnold-Chiari malformation, Astigmatism, Autosomal dominant inheritance, Coarctation of aorta, Coarse facial features, Cryptorchidism, Cupped ear, Epicanthus, Flat acetabular roof, Gait imbalance, Generalized hypotonia, Hearing impairment, Hypertelorism, Intellectual disability, Low-set ears, Macrocephaly, Micropenis, Phenotypic variability, Ptosis, Renal insufficiency, Short femoral neck, Short palpebral fissure, Short stature, Tapered finger, Tetralogy of Fallot, Trigonocephaly, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux, Wormian bones
IPC-div2	SP1	0.844033665	0.000300978	Transcription factor	BrainSpLMD|6667	OMIM|189906
IPC-div2	RP5.857K21.7	1.588681575	0.000303098			
IPC-div2	FUS	0.430219228	0.000303581	RNA binding protein	BrainSpLMD|2521	OMIM|137070;COSMIC||liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma;HPO|2521|Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Decreased muscle mass, Depressivity, Dysarthria, Dyspnea, EMG abnormality, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Gait disturbance, Generalized muscle weakness, Hyperreflexia, Hyporeflexia, Muscle cramps, Neurodegeneration, Neuronal loss in central nervous system, Pain, Paralysis, Postural tremor, Proximal amyotrophy, Pseudobulbar behavioral symptoms, Respiratory failure, Skeletal muscle atrophy, Spasticity, Subcutaneous nodule, Xerostomia
IPC-div2	SOGA1	0.489134335	0.00032243	Unclassified	BrainSpLMD|140710	
IPC-div2	RAD21	0.375519324	0.000323692	DNA binding protein	BrainSpLMD|5885	OMIM|606462;COSMIC||AML, endometrium, colorectal, lung, Cornelia de Lange syndrome-4;HPO|5885|Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Clinodactyly of the 5th finger, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downturned corners of mouth, Elbow dislocation, Exostoses, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phenotypic variability, Phthisis bulbi, Premature birth, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Smooth philtrum, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Vesicoureteral reflux, Wide nasal bridge, Widely spaced teeth
IPC-div2	HNRNPA3	0.27102144	0.000325945	Ribonucleoprotein		OMIM|605372
IPC-div2	SNRNP40	0.322692701	0.00032683	RNA binding protein	BrainSpLMD|9410;Eurexp|euxassay_006151|cortex, liver, lung, metanephros, submandibular gland primordium	OMIM|607797
IPC-div2	PARP2	0.389988103	0.000330082	DNA binding protein;Enzyme: Ribosyltransferase	BrainSpLMD|10038	OMIM|607725
IPC-div2	TEX9	0.528920437	0.0003312	Unclassified	BrainSpLMD|374618	
IPC-div2	RFC1	0.352257068	0.00033155	DNA binding protein	BrainSpLMD|5981	OMIM|102579
IPC-div2	CDKN3	0.625171877	0.000337495	Dual specificity phosphatase	BrainSpLMD|1033;Eurexp|euxassay_014422|axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, orbito-sphenoid, pelvic girdle, temporal bone, tibia, turbinate, vault of skull	OMIM|123832
IPC-div2	PROSER1	0.492145221	0.00034114	Unclassified	BrainSpLMD|80209	
IPC-div2	FAM127A	0.603657459	0.000341802			
IPC-div2	RPS26	0.336753758	0.000343944	Ribosomal subunit	Eurexp|euxassay_007095|embryo	OMIM|603701;HPO|6231|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Infantile onset, Macrocytic anemia, Migraine, Pallor, Reticulocytopenia
IPC-div2	ZNF90	0.374704173	0.000347834	Transcription regulatory protein		OMIM|603973
IPC-div2	EIF5B	0.489484157	0.000348206	Translation regulatory protein	BrainSpLMD|9669	OMIM|606086
IPC-div2	H3F3AP6	0.592648741	0.000354506			
IPC-div2	IMMT	0.635548424	0.000355874	Motor protein	BrainSpLMD|10989;Eurexp|euxassay_010967|adrenal gland, axial muscle, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, mantle layer, metanephros, midgut, pancreas, primitive seminiferous tubules, right lung, stomach, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, vagus X, vibrissa	OMIM|600378
IPC-div2	EGFR	1.05672526	0.000361959	Receptor tyrosine kinase	BrainSpLMD|1956;Eurexp|euxassay_002564|axial skeleton, cervical region, diaphragm, epidermis, intermediate grey horn, lumbar region, mandible, mantle layer, maxilla, mesenchyme, nasal septum, phalanx, pharyngo-tympanic tube, primary palate, rib, sacral region, thoracic region, trachea, turbinate bones, upper arm, ventricular layer, vibrissa;BrainSpMouseDev|13427	OMIM|131550;COSMIC||glioma, NSCLC, NSCLC;HPO|1956|Alveolar cell carcinoma, Autosomal recessive inheritance, Epidermal acanthosis, Failure to thrive, Hypertension, Long eyelashes, Papule, Pustule, Recurrent bronchiolitis, Recurrent pneumonia, Vomiting
IPC-div2	SFR1	0.843960931	0.000364143	Unclassified	BrainSpLMD|119392;Eurexp|euxassay_002043|ventricular layer	OMIM|616527
IPC-div2	C12orf57	0.471594217	0.000364451	Unclassified	BrainSpLMD|113246	SFARI||Autism, No category;OMIM|615140;HPO|113246|Agenesis of corpus callosum, Aortic dilatation, Aortic regurgitation, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Brachydactyly, Chorioretinal coloboma, Coarse facial features, Convex nasal ridge, Dental crowding, Dolichocephaly, Downslanted palpebral fissures, Ectopia lentis, Frontal bossing, Generalized hypotonia, Genu varum, Global developmental delay, Highly arched eyebrow, Hip dislocation, Hypertelorism, Hypoplasia of teeth, Infantile onset, Intellectual disability, Intellectual disability, mild, Iris coloboma, Long face, Long philtrum, Lop ear, Low-set ears, Macrocephaly, Micrognathia, Myopia, Pes planus, Short 2nd toe, Short toe, Talipes equinovarus, Ventriculomegaly
IPC-div2	EIF4A3	0.342458956	0.000369099	Unclassified	BrainSpLMD|9775;Eurexp|euxassay_003305|submandibular gland primordium, testis, vibrissa	OMIM|608546;HPO|9775|Abnormality of the aryepiglottic fold, Abnormality of the voice, Agenesis of mandibular central incisor, Aplasia of the epiglottis, Autosomal recessive inheritance, Bifid uvula, Cleft lower alveolar ridge, Cleft mandible, Clinodactyly of the 5th finger, Feeding difficulties, Global developmental delay, High palate, Hypoplasia of the radius, Low-set ears, Microretrognathia, Narrow mouth, Pierre-Robin sequence, Prominent nose, Protruding ear, Proximal placement of thumb, Radial deviation of the hand, Short metacarpal, Short phalanx of finger, Short stature, Short thumb, Talipes equinovarus, Tibial deviation of toes
IPC-div2	HSPA4	0.285099199	0.000386198	Chaperone	BrainSpLMD|3308	OMIM|601113
IPC-div2	NFATC2IP	1.289346211	0.000388353	Unclassified	BrainSpLMD|84901	OMIM|614525
IPC-div2	RP11.76I14.1	0.30889703	0.000395506			
IPC-div2	HNRNPK	0.277381515	0.000406382	Ribonucleoprotein	BrainSpLMD|3190	OMIM|600712;HPO|3190|Autosomal dominant inheritance, Constipation, Craniosynostosis, Cryptorchidism, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Feeding difficulties, Generalized hypotonia, Global developmental delay, High palate, Hip dysplasia, Intellectual disability, Inverted nipples, Long face, Long palpebral fissure, Microtia, Oligodontia, Open mouth, Overlapping toe, Pectus excavatum, Poor speech, Postaxial polydactyly, Ptosis, Sacral dimple, Scoliosis, Sparse lateral eyebrow, Thickened nuchal skin fold, Underdeveloped nasal alae, Wide intermamillary distance, Wide nasal ridge
IPC-div2	PI4KAP1	0.784342263	0.000407449			
IPC-div2	HILPDA	1.594673069	0.000414662	Integral membrane protein	BrainSpLMD|29923	
IPC-div2	CHRNA7	0.329276259	0.000417959	Voltage gated channel	BrainSpLMD|1139;Eurexp|euxassay_008298|cervical, cervico-thoracic, mantle layer, marginal layer, thoracic, tongue, trigeminal V;BrainSpMouseDev|11230	SFARI||Autism, 3 - Suggestive evidence;OMIM|118511;HPO|1139|Abnormal facial shape, Autosomal dominant inheritance, Global developmental delay, Intellectual disability, Phenotypic variability
IPC-div2	GUCD1	1.064141728	0.000418991	Unclassified	BrainSpLMD|83606;Eurexp|euxassay_010826|lobe, metanephros	
IPC-div2	SLC25A37	0.381131443	0.000419963	Transport/cargo protein	BrainSpLMD|51312;Eurexp|euxassay_007768|liver, mesenchyme	OMIM|610387
IPC-div2	SPIN4	1.194438639	0.000424878	Unclassified		
IPC-div2	XRCC5	0.398825726	0.000427838	DNA binding protein	BrainSpLMD|7520;Eurexp|euxassay_009101|thymus primordium	OMIM|194364
IPC-div2	RHEBP2	0.888668666	0.000434736			
IPC-div2	SLC25A6	0.358998048	0.000439219	Transport/cargo protein		OMIM|403000
IPC-div2	CASP2	0.368469945	0.000441263	Cysteine protease	BrainSpLMD|835	OMIM|600639
IPC-div2	DCP2	0.443490888	0.000445917	RNA binding protein	BrainSpLMD|167227	OMIM|609844
IPC-div2	RPL10AP6	1.215172163	0.000448177			
IPC-div2	POLA1	1.413506236	0.000449609	DNA polymerase	BrainSpLMD|5422	OMIM|312040;HPO|5422|Abnormality of chromosome stability, Abnormality of metabolism/homeostasis, Amyloidosis, Broad eyebrow, Colitis, Corneal scarring, Cryptorchidism, Diarrhea, Failure to thrive in infancy, Generalized reticulate brown pigmentation, Global developmental delay, Hearing impairment, Hemiplegia, Hyperkeratosis, Hypohidrosis, Hypospadias, Inguinal hernia, Intellectual disability, Leukemia, Neoplasm, Opacification of the corneal stroma, Photophobia, Recurrent infection of the gastrointestinal tract, Recurrent pneumonia, Seizures, Spasticity, Urethral stricture, Visual impairment, Visual loss, X-linked inheritance, X-linked recessive inheritance
IPC-div2	RP5.882C2.2	1.446729365	0.00046598			
IPC-div2	DYM	1.074982237	0.000466904	Integral membrane protein	BrainSpLMD|54808	OMIM|607461;HPO|54808|Abnormality of epiphysis morphology, Abnormality of the ilium, Abnormality of the metaphysis, Abnormality of the wrist, Atlantoaxial instability, Autosomal recessive inheritance, Barrel-shaped chest, Beaking of vertebral bodies, Broad foot, Broad palm, Camptodactyly, Carpal bone hypoplasia, Coarse facial features, Cone-shaped epiphyses of the phalanges of the hand, Deformed sella turcica, Delayed femoral head ossification, Disproportionate short-trunk short stature, Dolichocephaly, Enlargement of the costochondral junction, Flat acetabular roof, Flat glenoid fossa, Genu valgum, Genu varum, Global developmental delay, Hip dislocation, Hyperlordosis, Hypoplasia of the odontoid process, Hypoplastic acetabulae, Hypoplastic facial bones, Hypoplastic iliac wing, Hypoplastic scapulae, Iliac crest serration, Intellectual disability, Irregular epiphyses, Joint stiffness, Kyphosis, Lumbar hyperlordosis, Mandibular prognathia, Metaphyseal irregularity, Microcephaly, Micromelia, Multicentric femoral head ossification, Multicentric ossification of proximal femoral epiphyses, Multicentric ossification of proximal humeral epiphyses, Narrow greater sacrosciatic notches, Neurological speech impairment, Pectus carinatum, Platyspondyly, Postnatal growth retardation, Prominent sternum, Rhizomelia, Scoliosis, Severe global developmental delay, Shield chest, Short metacarpal, Short metatarsal, Short neck, Short phalanx of finger, Short thorax, Skeletal dysplasia, Sloping forehead, Spinal canal stenosis, Thickened calvaria, Thoracic kyphosis, Waddling gait, Wide pubic symphysis
IPC-div2	IPO7	0.669981615	0.000470921	Transport/cargo protein	BrainSpLMD|10527	OMIM|605586
IPC-div2	SP3	0.648262907	0.000480499	Transcription factor	BrainSpLMD|6670;BrainSpMouseDev|20449	OMIM|601804
IPC-div2	NOP56	0.607611777	0.000486213	Unclassified	BrainSpLMD|10528	OMIM|614154;HPO|10528|Autosomal dominant inheritance, Babinski sign, Cerebellar atrophy, Dysarthria, Gait ataxia, Hyperreflexia, Impaired smooth pursuit, Incoordination, Limb ataxia, Progressive, Slow saccadic eye movements, Tongue atrophy, Tongue fasciculations
IPC-div2	TRIM26	0.607463495	0.000488147	DNA binding protein	BrainSpLMD|7726	OMIM|600830
IPC-div2	CS	0.48134309	0.000488725	Enzyme: Acyltransferase	BrainSpLMD|1431	OMIM|118950
IPC-div2	MEGF10	0.748949077	0.000489294	Structural protein	BrainSpLMD|84466	SFARI||Autism, 4 - Minimal evidence;OMIM|612453;HPO|84466|Areflexia, Autosomal recessive inheritance, Camptodactyly of finger, Cleft palate, Congenital onset, Decreased fetal movement, Diaphragmatic paralysis, Difficulty running, Dysphagia, Facial palsy, Failure to thrive, High palate, Hyporeflexia, Motor delay, Nasal speech, Neonatal hypotonia, Pectus excavatum, Poor head control, Respiratory distress, Respiratory failure, Restrictive ventilatory defect, Scoliosis, Talipes equinovarus, Variable expressivity
IPC-div2	ACTB	0.396190401	0.000490849	Cytoskeletal protein	BrainSpLMD|60;BrainSpMouseDev|11250	OMIM|102630;HPO|60|Abnormality of metabolism/homeostasis, Achalasia, Agenesis of corpus callosum, Anteverted nares, Aortic valve stenosis, Aphasia, Autosomal dominant inheritance, Autosomal recessive inheritance, Bicuspid aortic valve, Blindness, Cataract, Cerebral cortical hemiatrophy, Chorioretinal coloboma, Cleft palate, Cleft upper lip, Coarse facial features, Cryptorchidism, Death in early adulthood, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Dysphagia, Dysphasia, Echolalia, Epicanthus, Euryblepharon, Externally rotated hips, Failure to thrive, Feeding difficulties, Full cheeks, Generalized dystonia, Generalized hypotonia, Global developmental delay, Growth delay, Heterochromia iridis, High forehead, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplastic scapulae, Immunodeficiency, Intellectual disability, Intellectual disability, mild, Iris coloboma, Joint stiffness, Kyphoscoliosis, Kyphosis, Large fontanelles, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Macroglossia, Macrogyria, Mental deterioration, Microcephaly, Micrognathia, Micromelia, Micropenis, Mild global developmental delay, Mutism, Oral cleft, Osteochondrosis, Overfolded helix, Pachygyria, Patent ductus arteriosus, Pointed chin, Polymicrogyria, Postnatal growth retardation, Prominent epicanthal folds, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Scoliosis, Seizures, Sensorineural hearing impairment, Short columella, Short neck, Short nose, Short stature, Skeletal dysplasia, Small for gestational age, Specific learning disability, Subcortical cerebral atrophy, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Trigonocephaly, Wide mouth, Wide nasal bridge, Wide nose
IPC-div2	ZIK1	1.458360984	0.000496981	Transcription regulatory protein	Eurexp|euxassay_005254|lateral wall, medulla oblongata, metencephalon, thalamus	
IPC-div2	MYO9B	1.329235994	0.000501295	Motor protein	BrainSpLMD|4650	SFARI||Autism, 3 - Suggestive evidence;OMIM|602129
IPC-div2	TBCD	0.994403567	0.000502	Chaperone	BrainSpLMD|6904	OMIM|604649;HPO|6904|Arthrogryposis multiplex congenita, Atrophy/Degeneration affecting the brainstem, Autosomal recessive inheritance, CNS hypomyelination, Cerebellar atrophy, Constipation, Developmental regression, Diffuse cerebral atrophy, Encephalopathy, Facial hypotonia, Feeding difficulties, Gliosis, Global developmental delay, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Micrognathia, Muscle weakness, Neuronal loss in central nervous system, Optic atrophy, Postnatal microcephaly, Scoliosis, Seizures, Severe muscular hypotonia, Skeletal muscle atrophy, Sparse eyebrow, Spastic tetraplegia, Tongue fasciculations, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Widely spaced teeth
IPC-div2	CEP128	0.720088954	0.000503547	Unclassified	BrainSpLMD|145508	
IPC-div2	GSTCD	0.603256245	0.000508	Unclassified	BrainSpLMD|79807	OMIM|615912
IPC-div2	CD47	0.471235842	0.000508027	Unclassified	BrainSpLMD|961;Eurexp|euxassay_003895|dorsal root ganglion, floorplate, glossopharyngeal IX, left, lip, mantle layer, marginal layer, olfactory, right, thalamus, thymus primordium, trigeminal V, ventral grey horn;BrainSpMouseDev|16196	OMIM|601028
IPC-div2	RBBP9	0.482891261	0.000511236	Cell cycle control protein;Unclassified	BrainSpLMD|10741	OMIM|602908
IPC-div2	WASF2	0.278325534	0.000518578	Cytoskeletal associated protein	BrainSpLMD|10163	OMIM|605875
IPC-div2	PSMB3	0.637041236	0.000523498	Ubiquitin proteasome system protein	BrainSpLMD|5691;Eurexp|euxassay_003314|dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, incisor, molar, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|602176
IPC-div2	DEPDC1B	0.670965221	0.000538252	Unclassified	BrainSpLMD|55789	OMIM|616073
IPC-div2	IPO9	0.305968445	0.000541387	Transport/cargo protein	BrainSpLMD|55705	
IPC-div2	C1GALT1	1.446249757	0.000543383	Enzyme: Galactosyltransferase	BrainSpLMD|56913;Eurexp|euxassay_013628|bladder, lobe, lumen, lung, mandible, maxilla, orbito-sphenoid, stomach, thymus primordium, urethra, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|610555
IPC-div2	ELOVL2	0.903534225	0.000545334	Unclassified	BrainSpLMD|54898;Eurexp|euxassay_006217|adenohypophysis, brain, calyces, cervical, cervico-thoracic, left, olfactory, right, spinal cord, thoracic, thyroid	OMIM|611814
IPC-div2	UBE2G2	0.497739683	0.000548706	Ubiquitin proteasome system protein	BrainSpLMD|7327	OMIM|603124
IPC-div2	PHGDH	0.866053494	0.000556651	Enzyme: Dehydrogenase	BrainSpLMD|26227	OMIM|606879;HPO|26227|Ablepharon, Abnormality of the philtrum, Absent eyelashes, Absent septum pellucidum, Adducted thumb, Agenesis of corpus callosum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Bifid uterus, Broad foot, Calcaneovalgus deformity, Camptodactyly, Cataract, Cerebellar hypoplasia, Cerebral dysmyelination, Choroid plexus cyst, Cleft palate, Cleft upper lip, Clinodactyly, Congenital cataract, Congenital microcephaly, Cryptorchidism, Dandy-Walker malformation, Decreased fetal movement, Decreased testicular size, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Finger syndactyly, Generalized edema, Growth delay, Hydranencephaly, Hypertelorism, Hypogonadism, Hypsarrhythmia, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Lack of skin elasticity, Large hands, Lissencephaly, Macrogyria, Macrotia, Megaloblastic anemia, Microcephaly, Micrognathia, Micromelia, Microphthalmia, Muscle cramps, Muscular dystrophy, Nystagmus, Opisthotonus, Pachygyria, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Polymicrogyria, Proptosis, Pterygium, Pulmonary hypoplasia, Radial deviation of finger, Renal agenesis, Rocker bottom foot, Seizures, Short neck, Short umbilical cord, Skeletal muscle atrophy, Sloping forehead, Small placenta, Spastic tetraplegia, Spina bifida, Stillbirth, Thick lower lip vermilion, Thick vermilion border, Thrombocytopenia, Toe syndactyly, Transposition of the great arteries, Trismus, Ventricular septal defect, Yellow subcutaneous tissue covered by thin, scaly skin
IPC-div2	HERC2P9	0.322541803	0.000563717			
IPC-div2	DENND5B	0.364575277	0.000566274	Unclassified	BrainSpLMD|160518	OMIM|617279
IPC-div2	CNPY3	0.769012324	0.000577582	Unclassified	BrainSpLMD|10695;Eurexp|euxassay_013821|mantle layer	OMIM|610774
IPC-div2	ELMOD2	0.439126472	0.000581576	Unclassified	BrainSpLMD|255520	OMIM|610196
IPC-div2	PHF19	1.6399485	0.000581611	Transcription regulatory protein	BrainSpLMD|26147;Eurexp|euxassay_004365|cortex, ventricular layer;BrainSpMouseDev|49857	OMIM|609740
IPC-div2	HINT1	0.53771519	0.000585905	ATPase	BrainSpLMD|3094	OMIM|601314;HPO|3094|Abnormality of the foot, Autosomal recessive inheritance, Distal sensory impairment, Elevated serum creatine phosphokinase, Fasciculations, Foot dorsiflexor weakness, Hyperhidrosis, Muscle cramps, Muscle stiffness, Myokymia, Myotonia, Progressive, Sensory axonal neuropathy, Skeletal muscle atrophy
IPC-div2	ACAA2	0.82612551	0.000589367	Enzyme: Acyltransferase	BrainSpLMD|10449;Eurexp|euxassay_018546|bladder, choroid invagination, choroid plexus, epidermis, epithelium, liver, oral epithelium, roof plate, vibrissa	OMIM|604770
IPC-div2	STXBP4	0.531752271	0.000589788	Adapter molecule	BrainSpLMD|252983	OMIM|610415
IPC-div2	API5	0.250315874	0.000590528	Unclassified	BrainSpLMD|8539;Eurexp|euxassay_007141|embryo	OMIM|609774
IPC-div2	RP11.490K7.4	0.257680262	0.000598272			
IPC-div2	SEL1L3	1.073619303	0.000600598	Integral membrane protein	BrainSpLMD|23231;Eurexp|euxassay_002775|basal plate, calyces, cerebral cortex, corpus striatum, cortex, dorsal root ganglion, ductus deferens, foregut-midgut junction, glossopharyngeal IX, hindgut, marginal layer, midgut, rectum, stomach, submandibular gland primordium, trigeminal V, urethra, vestibulocochlear VIII	
IPC-div2	MBNL1	0.533940847	0.000604089	RNA binding protein	BrainSpLMD|4154	OMIM|606516
IPC-div2	CCT6A	0.474255603	0.000604922	Chaperone	BrainSpLMD|908	OMIM|104613
IPC-div2	BAZ2B	0.378744698	0.0006093	Transcription regulatory protein	BrainSpLMD|29994;Eurexp|euxassay_011654|olfactory, vomeronasal organ	OMIM|605683
IPC-div2	1-Mar	0.495525078	0.000622111			
IPC-div2	TXLNA	0.260193518	0.000623485	Unclassified	BrainSpLMD|200081;Eurexp|euxassay_005956|embryo	OMIM|608676
IPC-div2	ABCF1	0.832610892	0.000624051	Translation regulatory protein	BrainSpLMD|23;Eurexp|euxassay_007589|embryo	OMIM|603429
IPC-div2	MEX3C	0.684019861	0.000630028	Unclassified	BrainSpLMD|51320	OMIM|611005
IPC-div2	MTMR2	0.963932782	0.000634771	Enzyme: Phosphatase	BrainSpLMD|8898	OMIM|603557;HPO|8898|Abnormal auditory evoked potentials, Autosomal recessive inheritance, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Facial palsy, Heterogeneous, Irregular myelin loops, Motor delay, Proximal muscle weakness, Scoliosis, Talipes equinovarus
IPC-div2	ATP5G2	0.639186039	0.00063592			
IPC-div2	FAM53B	0.945969125	0.000652759	Unclassified	BrainSpLMD|9679	OMIM|617289
IPC-div2	HSPA14	0.93013576	0.00065708	Chaperone	BrainSpLMD|51182	OMIM|610369
IPC-div2	CA12	0.713412413	0.000661939	Enzyme: Carbonic anhydrase	BrainSpLMD|771;Eurexp|euxassay_018906|choroid plexus, clavicle, epithelium, incisor, molar, nasal septum, olfactory, oral epithelium, submandibular gland primordium, vibrissa	OMIM|603263;HPO|771|Autosomal dominant inheritance, Autosomal recessive inheritance, Dehydration, Failure to thrive, Feeding difficulties, Hyperkalemia, Hyponatremia, Infantile onset
IPC-div2	PCNT	0.479958299	0.000676801	Cytoskeletal protein	BrainSpLMD|5116;BrainSpMouseDev|18307	OMIM|605925;HPO|5116|Abnormality of dental enamel, Abnormality of epiphysis morphology, Abnormality of female external genitalia, Abnormality of the metaphysis, Absent earlobe, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Autosomal recessive inheritance, Brachydactyly, Cachexia, Cafe-au-lait spot, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Coxa vara, Craniosynostosis, Delayed skeletal maturation, Dilatation of the cerebral artery, Disproportionate short stature, Downslanted palpebral fissures, Dry skin, Fine hair, Flared metaphysis, Full cheeks, Glaucoma, Global developmental delay, High pitched voice, Hip dysplasia, Hypermetropia, Hypopigmented skin patches, Hypoplasia of dental enamel, Hypoplastic iliac wing, Hypospadias, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Microcephaly, Microdontia, Micrognathia, Micromelia, Microtia, Mild global developmental delay, Moyamoya phenomenon, Multiple cafe-au-lait spots, Narrow face, Narrow pelvis bone, Nasal speech, Postnatal growth retardation, Precocious puberty, Prematurely aged appearance, Prominent nasal bridge, Prominent nose, Proximal femoral epiphysiolysis, Pseudoepiphyses of the metacarpals, Radial bowing, Reduced number of teeth, Retrognathia, Sandal gap, Scoliosis, Sensorineural hearing impairment, Short 1st metacarpal, Short distal phalanx of finger, Short stature, Slender long bone, Sloping forehead, Sparse scalp hair, Tibial bowing, Truncal obesity, Type II diabetes mellitus, Ulnar bowing, Underdeveloped nasal alae, Upslanted palpebral fissure, Wide nasal bridge
IPC-div2	NUCB2	0.452541242	0.000676823	Calcium binding protein	BrainSpLMD|4925;BrainSpMouseDev|32802	OMIM|608020
IPC-div2	NUPL1	0.465526014	0.000684613			
IPC-div2	TXNRD1	0.312910048	0.000685166	Enzyme: Oxidoreductase	BrainSpLMD|7296;Eurexp|euxassay_018922|axial muscle, clavicle, dorsal root ganglion, incisor, liver, lung, mandible, mantle layer, maxilla, molar, neural retina, olfactory, pancreas, pharyngo-tympanic tube, rib, submandibular gland primordium, thymus primordium, thyroid, ventral grey horn, ventricular layer, vibrissa	OMIM|601112
IPC-div2	THYN1	0.896418395	0.000697302	Unclassified	BrainSpLMD|29087	OMIM|613739
IPC-div2	SLC35A4	1.163890369	0.000697589	Membrane transport protein	BrainSpLMD|113829;Eurexp|euxassay_004834|axial muscle, cranium, ventricular layer	
IPC-div2	MPHOSPH9	0.594775175	0.00070785	Cell cycle control protein	BrainSpLMD|10198	OMIM|605501
IPC-div2	CRSP8P	0.64405422	0.000731799			
IPC-div2	PPM1G	0.426700261	0.000734709	Serine/threonine phosphatase	BrainSpLMD|5496	OMIM|605119
IPC-div2	PLK1	1.004899329	0.000740241	Serine/threonine kinase	BrainSpLMD|5347	OMIM|602098
IPC-div2	POLE	1.064490214	0.00074264	DNA polymerase	BrainSpLMD|5426	OMIM|174762;COSMIC||colorectal carcinoma, endometrioid carcinoma, stomach carcinoma, skin cancer, colorectal cancer susceptibility, FILS syndrome;HPO|5426|Abnormal facial shape, Autosomal recessive inheritance, Broad forehead, Congenital onset, Immunodeficiency, Malar flattening, Recurrent respiratory infections, Relative macrocephaly, Short stature, Telangiectases of the cheeks
IPC-div2	TGIF2	0.996423688	0.000751181	Transcription factor	BrainSpLMD|60436;Eurexp|euxassay_019508|axial skeleton, cornea, epithelium, incisor, lung, marginal layer, metanephros, molar, neural retina, oesophagus, olfactory, phalanx, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|86790	OMIM|607294
IPC-div2	TGIF1	0.674714863	0.00077611	Transcription factor	BrainSpLMD|7050;Eurexp|euxassay_007804|cortex, fundus region, hindgut, lung, midgut, oesophagus, rectum, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|21574	OMIM|602630;HPO|7050|Absent nasal septal cartilage, Autosomal dominant inheritance, Depressed nasal bridge, Depressed nasal tip, Hypotelorism, Median cleft lip, Median cleft lip and palate, Ptosis, Semilobar holoprosencephaly
IPC-div2	STAG1	0.791337653	0.000788956	Cell cycle control protein	BrainSpLMD|10274	SFARI||Autism, No category;OMIM|604358;COSMIC||colorectal cancer, AML
IPC-div2	EFCAB2	1.226140733	0.000791215	Calcium binding protein	BrainSpLMD|84288;Eurexp|euxassay_004433|choroid invagination, mantle layer, meninges	
IPC-div2	RBM17	0.315272707	0.000795548	RNA binding protein	BrainSpLMD|84991	OMIM|606935
IPC-div2	REEP3	0.330085537	0.000815612	Unclassified	BrainSpLMD|221035;Eurexp|euxassay_004457|digit 1, digit 2, digit 3, digit 4, digit 5, footplate, handplate, lower leg, trigeminal V, valve, ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|609348
IPC-div2	PSD3	0.465864203	0.000816182	Guanine nucleotide exchange factor	BrainSpLMD|23362	SFARI||Autism, 4 - Minimal evidence;OMIM|614440
IPC-div2	PTK7	0.770285887	0.000820607	Receptor tyrosine kinase	BrainSpLMD|5754;BrainSpMouseDev|47302	SFARI||Autism, 3 - Suggestive evidence;OMIM|601890
IPC-div2	CCNK	0.497306794	0.000822424	Transcription regulatory protein	BrainSpLMD|8812	OMIM|603544
IPC-div2	GDI1	0.410364619	0.000826471	GTPase activating protein	BrainSpLMD|2664;Eurexp|euxassay_004022|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|300104;HPO|2664|Generalized hypotonia, Global developmental delay, Intellectual disability, X-linked dominant inheritance, X-linked inheritance
IPC-div2	MRPL33	0.598382947	0.000828089	Ribosomal subunit	BrainSpLMD|9553	OMIM|610059
IPC-div2	ZXDC	0.886108411	0.00083339	Unclassified	BrainSpLMD|79364	OMIM|615746
IPC-div2	DNAJB11	1.258901991	0.000836651	Chaperone	BrainSpLMD|51726	OMIM|611341
IPC-div2	PTPLAD1	0.65092649	0.000852409			
IPC-div2	ARL6IP6	0.850885377	0.000856685	Unclassified	BrainSpLMD|151188;Eurexp|euxassay_011620|olfactory, submandibular gland primordium, ventricular layer	OMIM|616495
IPC-div2	DGCR8	0.307089911	0.000874227	Unclassified	BrainSpLMD|54487	OMIM|609030;COSMIC||Wilms tumour;HPO|54487|Abnormality of the ear, Abnormality of the endocrine system, Abnormality of the hand, Aggressive behavior, Autosomal dominant inheritance, Blepharophimosis, Bulbous nose, Cleft palate, Hypocalcemia, Inguinal hernia, Intellectual disability, Microcephaly, Mood swings, Muscular hypotonia, Nasal speech, Open mouth, Paranoia, Pierre-Robin sequence, Posterior embryotoxon, Recurrent infections, Retinal vascular tortuosity, Retrognathia, Right aortic arch with mirror image branching, Short stature, Specific learning disability, Tetralogy of Fallot, Umbilical hernia, Underdeveloped nasal alae, Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Ventricular septal defect
IPC-div2	SMAD5	0.276999088	0.000880458	Transcription regulatory protein	BrainSpLMD|4090;Eurexp|euxassay_019553|incisor, lung, mantle layer, metanephros, molar, saccule, spleen primordium, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|16899	OMIM|603110
IPC-div2	SETD8	0.882021441	0.000882869			
IPC-div2	DMRTA2	1.650835398	0.000891908	Transcription factor		OMIM|614804
IPC-div2	AC093838.4	0.815525597	0.000901044			
IPC-div2	RPS14	0.351151186	0.000909677	Ribosomal subunit	BrainSpLMD|6208	OMIM|130620;HPO|6208|Abnormality of cells of the megakaryocyte lineage, Autosomal dominant contiguous gene syndrome, Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Somatic mutation, Sporadic
IPC-div2	YEATS4	0.891540807	0.000938207	Transcription factor	BrainSpLMD|8089	OMIM|602116
IPC-div2	MOV10	1.591750601	0.000959463	Unclassified	BrainSpLMD|4343;Eurexp|euxassay_012341|anterior, midgut, olfactory, otic capsule, pituitary, stomach, turbinate bones	OMIM|610742
IPC-div2	SRPK1	1.100113429	0.00096154	Dual specificity kinase	BrainSpLMD|6732	OMIM|601939
IPC-div2	CARD8	0.366421586	0.000968397	Adapter molecule	BrainSpLMD|22900	OMIM|609051
IPC-div2	EIF4EBP1	1.014639754	0.000981345	Translation regulatory protein	BrainSpLMD|1978;Eurexp|euxassay_004855|skeletal muscle, vertebral axis muscle system	OMIM|602223
IPC-div2	SETD3	0.442117738	0.000981973	Enzyme: Methyltransferase	BrainSpLMD|84193	OMIM|615671
IPC-div2	CENPV	0.834871931	0.000988012	DNA binding protein	BrainSpLMD|201161	OMIM|608139
IPC-div2	CDK10	0.584134074	0.000990889	Serine/threonine kinase	BrainSpLMD|8558	OMIM|603464
IPC-div2	RP11.498C9.15	0.955865036	0.000993607			
IPC-div2	TMEM97	0.539561631	0.001010197	Unclassified	BrainSpLMD|27346;Eurexp|euxassay_006766|axial skeleton, clavicle, cranium, digit 1, digit 2, digit 3, digit 4, digit 5, femur, fibula, handplate, humerus, incisor, liver, mandible, maxilla, naris, pancreas, petrous part, radius, rib, scapula, submandibular gland primordium, tibia, turbinate bones, ulna, vibrissa	OMIM|612912
IPC-div2	ZNF606	0.961664782	0.001021596	Transcription regulatory protein	BrainSpLMD|80095	OMIM|613905
IPC-div2	BSG	0.814748825	0.001029106	Cell surface receptor	BrainSpLMD|682	OMIM|109480
IPC-div2	NVL	0.713661307	0.001041806	ATPase	BrainSpLMD|4931	OMIM|602426
IPC-div2	DAG1	0.849401697	0.001051737	Adhesion molecule	BrainSpLMD|1605	OMIM|128239;HPO|1605|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Absent septum pellucidum, Absent speech, Agenesis of corpus callosum, Ankle contracture, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Autosomal recessive inheritance, Buphthalmos, Cataract, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral calcification, Chorioretinal dysplasia, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Delayed speech and language development, Elevated serum creatine phosphokinase, Generalized hypotonia, Glaucoma, Global developmental delay, Gowers sign, Hydrocephalus, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hyporeflexia, Infantile onset, Intellectual disability, Leukodystrophy, Limb-girdle muscle weakness, Lissencephaly, Lumbar hyperlordosis, Macrocephaly, Macrogyria, Metatarsus valgus, Microphthalmia, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Myopia, Optic atrophy, Pachygyria, Polymicrogyria, Poor head control, Respiratory failure, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Skeletal muscle atrophy, Specific learning disability, Variable expressivity, Ventriculomegaly
IPC-div2	CENPT	0.843122481	0.001052731	Unclassified	BrainSpLMD|80152	OMIM|611510
IPC-div2	POLR2J	0.635806351	0.001067158	RNA polymerase	BrainSpLMD|5439	OMIM|604150
IPC-div2	KDM6A	0.858491126	0.001081079	Unclassified	BrainSpLMD|7403	SFARI||Autism, 2 - Strong candidate;OMIM|300128;COSMIC||renal cell carcinoma, bladder carcinoma, oesophageal SCC, MM, medulloblastoma, T-ALL, other tumour types, Kabuki syndrome;HPO|7403|Abnormal dermatoglyphics, Abnormal vertebral morphology, Abnormality of the breast, Abnormality of the cardiac septa, Abnormality of the dentition, Anal atresia, Anal stenosis, Anoperineal fistula, Atrial septal defect, Autoimmune thrombocytopenia, Autosomal dominant inheritance, Behavioral abnormality, Blue sclerae, Broad nasal tip, Butterfly vertebrae, Cafe-au-lait spot, Central hypotonia, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Conductive hearing impairment, Congenital hip dislocation, Congenital hypothyroidism, Crossed fused renal ectopia, Cryptorchidism, Decreased body weight, Dental malocclusion, Depressed nasal tip, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Generalized hypotonia, Generalized joint laxity, Global developmental delay, Hearing impairment, Hemivertebrae, Hemolytic anemia, High palate, Highly arched eyebrow, Hirsutism, Hydrocephalus, Hypodontia, Intellectual disability, Intestinal malrotation, Joint hyperflexibility, Joint hypermobility, Long eyelashes, Long palpebral fissure, Macrotia, Malabsorption, Microcephaly, Microdontia, Micropenis, Muscular hypotonia, Neonatal hypoglycemia, Posteriorly rotated ears, Postnatal growth retardation, Preauricular pit, Premature thelarche, Prominent eyelashes, Prominent fingertip pads, Protruding ear, Ptosis, Recurrent aspiration pneumonia, Recurrent infections, Recurrent otitis media, Scoliosis, Seizures, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Sparse and thin eyebrow, Sparse lateral eyebrow, Strabismus, Ureteropelvic junction obstruction, Ventricular septal defect, Ventriculomegaly, Wide nasal bridge, Widely spaced teeth, X-linked dominant inheritance
IPC-div2	NFE2L2	0.497514375	0.0010836	Transcription factor	BrainSpLMD|4780;Eurexp|euxassay_018087|larynx, midgut, rectum, stomach, submandibular gland primordium, thyroid, trachea;BrainSpMouseDev|17791	OMIM|600492;COSMIC||NSCLC, HNSCC
IPC-div2	GABPB1	0.479080474	0.001086157	Transcription factor	BrainSpLMD|2553;BrainSpMouseDev|14167	OMIM|600610
IPC-div2	SPPL2A	0.321217086	0.001091176		BrainSpLMD|84888;Eurexp|euxassay_010397|clavicle, mandible, maxilla, orbito-sphenoid, rib, thymus primordium	OMIM|608238
IPC-div2	ANO6	0.637195161	0.001102857	Integral membrane protein		OMIM|608663;HPO|196527|Abnormal bleeding, Autosomal recessive inheritance, Factor X activation deficiency
IPC-div2	PHACTR2	0.373862462	0.001109534	Enzyme regulator	BrainSpLMD|9749;Eurexp|euxassay_007706|alimentary system, cardiovascular system, cavities and their linings, choroid invagination, choroid plexus, gland, integumental system, limb, mesenchyme, renal/urinary system, reproductive system, respiratory system, roof plate, sensory organ, tail, ventricular layer, vertebral axis muscle system	OMIM|608724
IPC-div2	MESDC2	0.645460721	0.001114825			
IPC-div2	CTBP2	0.407052314	0.001115681	Adapter molecule;Transcription regulatory protein	BrainSpLMD|1488;Eurexp|euxassay_012486|eyelid, incisor, lung, marginal layer, metanephros, midgut, molar, pancreas, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|12800	OMIM|602619
IPC-div2	HN1L	0.64987282	0.0011273			
IPC-div2	FEM1C	0.361014104	0.001131013	Unclassified	BrainSpLMD|56929	OMIM|608767
IPC-div2	GPR180	0.422948578	0.001135884	G protein coupled receptor	BrainSpLMD|160897	OMIM|607787
IPC-div2	GTF2IRD1	1.097346947	0.001172189	Transcription factor	BrainSpLMD|9569;Eurexp|euxassay_019650|axial skeleton, choroid plexus, lung, oesophagus, pituitary, submandibular gland primordium, vibrissa;BrainSpMouseDev|36358	OMIM|604318;HPO|9569|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the neck, Anxiety, Arthralgia, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad forehead, Cerebral ischemia, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Dental malocclusion, Depressivity, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Epicanthus, Everted lower lip vermilion, Failure to thrive in infancy, Gait imbalance, Genu valgum, Hallux valgus, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Inguinal hernia, Insomnia, Intellectual disability, Joint stiffness, Kyphosis, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Microcephaly, Microdontia, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Open bite, Overfriendliness, Pelvic kidney, Periorbital edema, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Proteinuria, Protruding ear, Pulmonic stenosis, Redundant skin, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Visual impairment, Wide mouth, Wide nasal bridge
IPC-div2	FANCM	0.532990915	0.001173059	ATPase;Enzyme: Translocase	BrainSpLMD|57697;Eurexp|euxassay_008121|lung, mandible, petrous part	OMIM|609644;HPO|57697|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Esophageal atresia, Global developmental delay, Growth delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
IPC-div2	SF1	0.460812613	0.001179251	RNA binding protein	BrainSpLMD|7536	OMIM|601516
IPC-div2	UBA2	0.592720263	0.001189626	Ubiquitin proteasome system protein	BrainSpLMD|10054	OMIM|613295
IPC-div2	ADH5P4	0.3302884	0.001211108			
IPC-div2	BCOR	0.359594376	0.001268985	Transcription regulatory protein	BrainSpLMD|54880;Eurexp|euxassay_013800|incisor, molar, ventricular layer;BrainSpMouseDev|47299	OMIM|300485;COSMIC||retinoblastoma, AML, APL (translocation), Oculo-facio-cardio-dental genetic;HPO|54880|2-3 toe syndactyly, Abnormal palmar dermatoglyphics, Abnormality of dental morphology, Abnormality of the cardiac septa, Abnormality of the pinna, Aganglionic megacolon, Agenesis of maxillary lateral incisor, Aggressive behavior, Anal atresia, Anophthalmia, Aortic valve stenosis, Asymmetry of the ears, Atrial septal defect, Bicuspid aortic valve, Bifid nasal tip, Bifid uvula, Blepharophimosis, Blindness, Broad nasal tip, Broad palm, Camptodactyly, Camptodactyly of finger, Cataract, Chorioretinal coloboma, Ciliary body coloboma, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Complete duplication of thumb phalanx, Congenital cataract, Cryptorchidism, Delayed eruption of teeth, Dental crowding, Dental malocclusion, Down-sloping shoulders, Exotropia, External ear malformation, Finger syndactyly, Flexion contracture of the 2nd toe, Flexion contracture of the 4th toe, Fused teeth, Generalized hypotonia, Glaucoma, Growth delay, Hammertoe, Hearing impairment, High, narrow palate, Hydronephrosis, Hydroureter, Hypospadias, Increased number of teeth, Intellectual disability, Intellectual disability, mild, Iris coloboma, Joint contracture of the hand, Kyphoscoliosis, Laterally curved eyebrow, Long face, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Microcephaly, Microcornea, Microphthalmia, Misalignment of teeth, Mitral valve prolapse, Motor delay, Narrow chest, Narrow face, Oligodontia, Optic nerve coloboma, Oral cleft, Overfolded helix, Patent ductus arteriosus, Pectus excavatum, Persistence of primary teeth, Posteriorly rotated ears, Prominent nasal bridge, Ptosis, Pulmonic stenosis, Pyloric stenosis, Radial deviation of finger, Radioulnar synostosis, Rectal prolapse, Recurrent otitis media, Remnants of the hyaloid vascular system, Renal hypoplasia, Renal hypoplasia/aplasia, Seizures, Self-mutilation, Sensorineural hearing impairment, Septate vagina, Short clavicles, Short stature, Spastic diplegia, Submucous cleft hard palate, Syndactyly, Thick eyebrow, Ventricular septal defect, Visual loss, Webbed neck, X-linked dominant inheritance, X-linked inheritance
IPC-div2	RBM15B	0.41740422	0.001279387	RNA binding protein	BrainSpLMD|29890;Eurexp|euxassay_004160|olfactory	OMIM|612602
IPC-div2	NAPA	1.423784528	0.001281178	Adapter molecule	BrainSpLMD|8775	OMIM|603215
IPC-div2	NEDD4	1.114571481	0.001284158	Ubiquitin proteasome system protein	BrainSpLMD|4734;Eurexp|euxassay_018441|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|602278
IPC-div2	RNPS1	0.589264806	0.001286835	RNA binding protein	BrainSpLMD|10921	SFARI||Autism, No category;OMIM|606447
IPC-div2	GAREML	0.64112341	0.001295123			
IPC-div2	C5orf22	0.526854929	0.001296689	Unclassified	BrainSpLMD|55322	
IPC-div2	NLGN1	0.266419685	0.001322124	Adhesion molecule	BrainSpLMD|22871	SFARI||Autism, 3 - Suggestive evidence;OMIM|600568
IPC-div2	MYO6	0.476155476	0.001324095	Motor protein	BrainSpLMD|4646	OMIM|600970;HPO|4646|Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment
IPC-div2	ACP1	0.329028574	0.001357917	Enzyme: Acid phosphatase	BrainSpLMD|52;Eurexp|euxassay_003011|calyces, chondrocranium, incisor, lobe, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|171500
IPC-div2	GTF2E1	1.283897776	0.001361105	Transcription factor	BrainSpLMD|2960	OMIM|189962
IPC-div2	SUV39H2	0.726789666	0.001362769	Enzyme: Methyltransferase	BrainSpLMD|79723	OMIM|606503
IPC-div2	CCDC152	0.971656465	0.001371322	Unclassified		
IPC-div2	ITGB1	0.568299205	0.001372138	Cell surface receptor	BrainSpLMD|3688;Eurexp|euxassay_010970|aorta, bladder, clavicle, floor plate, floorplate, lung, mandible, maxilla, midgut, oesophagus, orbito-sphenoid, rib, stomach, submandibular gland primordium;BrainSpMouseDev|16185	OMIM|135630
IPC-div2	MIS18A	0.409191303	0.001380586	Unclassified	BrainSpLMD|54069	
IPC-div2	CCDC88C	0.307965641	0.001391439	Protease inhibitor	BrainSpLMD|440193;Eurexp|euxassay_016252|clavicle, femur, humerus, mandible, mantle layer, maxilla, orbito-sphenoid, rib, ventral grey horn	SFARI||Autism, 4 - Minimal evidence;OMIM|611204;HPO|440193|Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Broad-based gait, Congenital onset, Dysarthria, Dysdiadochokinesis, Hydrocephalus, Hyperreflexia, Intellectual disability, Intention tremor, Pontocerebellar atrophy, Seizures, Slow progression, Spastic paraparesis, Unsteady gait, Ventriculomegaly
IPC-div2	LIN9	0.677653507	0.001407672	Transcription regulatory protein	BrainSpLMD|286826;Eurexp|euxassay_006443|ventricular layer	OMIM|609375
IPC-div2	TUBB6	0.75093443	0.001411105	Cytoskeletal protein	BrainSpLMD|84617;Eurexp|euxassay_015347|cervical, cervico-thoracic, cochlear component, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, inferior, medulla oblongata, metencephalon, midbrain, neural retina, nucleus pulposus, olfactory, spinal cord, stroma, superior, telencephalon, thoracic, tongue, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII	OMIM|615103
IPC-div2	PRR14L	0.934642114	0.001412834	Unclassified	BrainSpLMD|253143	
IPC-div2	WBSCR22	0.72195604	0.001430846			
IPC-div2	EIF4H	0.66262681	0.001432381	Translation regulatory protein	BrainSpLMD|7458	OMIM|603431
IPC-div2	SPCS1	0.602428945	0.001440639	Unclassified	BrainSpLMD|28972;Eurexp|euxassay_008166|mandible, maxilla	OMIM|610358
IPC-div2	ILF2	0.286846507	0.001461945	Transcription factor	BrainSpLMD|3608;Eurexp|euxassay_003141|cervical, cervico-thoracic, chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, submandibular gland primordium, thoracic, trigeminal V, vestibulocochlear VIII, vibrissa	SFARI||Autism, 2 - Strong candidate;OMIM|603181
IPC-div2	NAA38	0.461866155	0.001490647	Unclassified	BrainSpLMD|84316	
IPC-div2	NAB1	0.423396625	0.00149192	Transcription regulatory protein	BrainSpLMD|4664;Eurexp|euxassay_019676|bladder;BrainSpMouseDev|17703	OMIM|600800
IPC-div2	MBD4	1.036110053	0.001494025	Transcription regulatory protein	BrainSpLMD|8930	SFARI||Autism, 4 - Minimal evidence;OMIM|603574
IPC-div2	XRCC6	0.445150499	0.00150131	DNA binding protein	BrainSpLMD|2547;Eurexp|euxassay_003500|axial muscle, left, orbito-sphenoid, pancreas, right, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|152690
IPC-div2	NCL	0.365549936	0.001502267	RNA binding protein	BrainSpLMD|4691;Eurexp|euxassay_007121|embryo	OMIM|164035
IPC-div2	NMRAL1	1.040750033	0.001521372	Unclassified	BrainSpLMD|57407;Eurexp|euxassay_006783|cortex, left lung, marginal layer, metanephros, olfactory lobe, pancreas, right lung, ventricular layer;BrainSpMouseDev|43667	
IPC-div2	ABL1	0.694317858	0.001527802	Tyrosine kinase	BrainSpLMD|25;BrainSpMouseDev|11183	OMIM|189980;COSMIC||CML, ALL, T-ALL;HPO|25|Abnormality of basophils, Fatigue, Fever, Leukocytosis, Myeloproliferative disorder, Poor appetite, Splenomegaly, Thrombocytopenia, Thrombocytosis
IPC-div2	SLC16A1	1.247517291	0.001577467	Membrane transport protein	BrainSpLMD|6566;Eurexp|euxassay_003351|Meckel's cartilage, axial muscle, capsule, clavicle, epidermis, foregut-midgut junction, glomeruli, hindgut, incisor, left lung, lobe, loop, marginal layer, meninges, midgut, molar, nasal septum, olfactory, pancreas, rectum, right lung, submandibular gland primordium, testis, thymus primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|600682;HPO|6566|Autosomal dominant inheritance, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise-induced muscle cramps, Exercise-induced muscle fatigue, Exercise-induced muscle stiffness, Feeding difficulties, Global developmental delay, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability, Ketoacidosis, Ketotic hypoglycemia, Pancreatic islet-cell hyperplasia
IPC-div2	ROCK1	0.320251781	0.001592449	Serine/threonine kinase	BrainSpLMD|6093	OMIM|601702
IPC-div2	KIAA1429	0.77231059	0.001602794			
IPC-div2	TMA16	0.790951048	0.00160653	Unclassified	BrainSpLMD|55319;Eurexp|euxassay_001460|lobe, urethra	
IPC-div2	PSMD5	0.861590697	0.001617821	Ubiquitin proteasome system protein	BrainSpLMD|5711	OMIM|604452
IPC-div2	MLX	0.873306389	0.001625032	Transcription regulatory protein;Transcription factor	BrainSpLMD|6945;BrainSpMouseDev|21189	OMIM|602976;HPO|6945|Abnormal pattern of respiration, Abnormality of the aortic valve, Anemia, Anorexia, Arthritis, Chest pain, Dilatation, Dilatation of the ascending aorta, Fatigue, Fever, Gangrene, Hyperhidrosis, Hypertensive crisis, Hypertrophic cardiomyopathy, Inflammatory abnormality of the eye, Migraine, Muscle weakness, Myalgia, Myocardial infarction, Pulmonary arterial hypertension, Seizures, Skin ulcer, Subcutaneous nodule, Vasculitis, Weight loss
IPC-div2	PGAM1	0.662565444	0.001629597	Enzyme: Mutase		OMIM|172250
IPC-div2	LRRC37A4P	0.362650136	0.001630621			
IPC-div2	MRPS11	0.729521814	0.001641622	Ribosomal subunit	BrainSpLMD|64963	OMIM|611977
IPC-div2	PARP1	0.567575899	0.001647925	Enzyme: Ribosyltransferase	BrainSpLMD|142	OMIM|173870
IPC-div2	NDUFB2	0.521313145	0.001648157	Enzyme: Oxidoreductase	BrainSpLMD|4708;Eurexp|euxassay_008721|basisphenoid bone, exoccipital bone, petrous part, rib	OMIM|603838
IPC-div2	RP1.104O17.1	0.341922376	0.0016498			
IPC-div2	AGPAT5	1.271017685	0.00165067	Enzyme: Transferase	BrainSpLMD|55326;Eurexp|euxassay_004916|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, larynx, lung, metanephros, midgut, molar, olfactory, rectum, respiratory, retina, spinal cord, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vestibulocochlear VIII	OMIM|614796
IPC-div2	PTGR1	1.173522267	0.00166198	Enzyme: Dehydrogenase	BrainSpLMD|22949	OMIM|601274
IPC-div2	MED4	0.327530995	0.00166557	Translation regulatory protein	BrainSpLMD|29079	OMIM|605718
IPC-div2	PHLDA1	0.27698016	0.001680428	Transcription factor	BrainSpLMD|22822;Eurexp|euxassay_008411|anterior, axial skeleton, bladder, cartilaginous ring, cornea, diaphragm, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, hepatic duct, hindgut, incisor, inner ear, left lung, liver, mantle layer, medulla, meninges, metanephros, midgut, molar, naso-lacrimal duct, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, right lung, skeletal muscle, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, tongue, trigeminal V, ureter, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|605335
IPC-div2	MRE11A	0.326355128	0.001698686			
IPC-div2	AK4	0.989916228	0.001705553	Enzyme: Phosphotransferase	BrainSpLMD|205;Eurexp|euxassay_010883|clavicle, hindgut, incisor, midgut, molar, olfactory, rectum, stomach	OMIM|103030
IPC-div2	KATNA1	0.728669508	0.001747277	ATPase	BrainSpLMD|11104	OMIM|606696
IPC-div2	KNOP1	0.532756119	0.001747642	Unclassified	Eurexp|euxassay_009995|submandibular gland primordium	
IPC-div2	RANBP17	0.553089426	0.001751727	Transport/cargo protein	BrainSpLMD|64901	SFARI||Autism, 2 - Strong candidate;OMIM|606141
IPC-div2	PSMC5	0.745222711	0.001768841	Ubiquitin proteasome system protein	BrainSpLMD|5705	OMIM|601681
IPC-div2	IPO8	1.264328199	0.001804439	Transport/cargo protein	BrainSpLMD|10526;Eurexp|euxassay_011001|lens	OMIM|605600
IPC-div2	SRSF7	0.343296367	0.001806371	RNA binding protein	BrainSpLMD|6432	OMIM|600572
IPC-div2	TIMM10	0.767522077	0.001811007	Chaperone	BrainSpLMD|26519	OMIM|602251
IPC-div2	POC1B	1.408180494	0.001824954	Unclassified	BrainSpLMD|282809	OMIM|614784;HPO|282809|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal recessive inheritance, Cone/cone-rod dystrophy, Constriction of peripheral visual field, Nyctalopia, Photophobia, Reduced visual acuity, Visual impairment
IPC-div2	MMP16	0.468922373	0.001838126	Metallo protease	BrainSpLMD|4325;Eurexp|euxassay_002543|body-wall mesenchyme, cochlear duct, cranium, head mesenchyme, mandible, rib, vibrissa	OMIM|602262
IPC-div2	ROMO1	0.535101256	0.001840441	Unclassified		
IPC-div2	CGGBP1	0.524170421	0.001844666	DNA binding protein	BrainSpLMD|8545	OMIM|603363
IPC-div2	SEC63	0.339925308	0.001869586	Transport/cargo protein	BrainSpLMD|11231	OMIM|608648;HPO|11231|Abdominal distention, Abnormality of the cardiovascular system, Abnormality of the nervous system, Adult onset, Ascites, Autosomal dominant inheritance, Back pain, Hepatic cysts, Hepatomegaly, Increased total bilirubin, Multiple renal cysts, Polycystic liver disease, Renal cyst
IPC-div2	RAP1B	0.417593828	0.001873986	GTPase	BrainSpLMD|5908	OMIM|179530;HPO|5908|Abnormal dermatoglyphics, Abnormality of the cardiac septa, Butterfly vertebrae, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Conductive hearing impairment, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Hemivertebrae, High palate, Highly arched eyebrow, Hydrocephalus, Hypodontia, Joint hyperflexibility, Long eyelashes, Macrotia, Microcephaly, Microdontia, Muscular hypotonia, Protruding ear, Ptosis, Recurrent infections, Scoliosis, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Sparse lateral eyebrow, Strabismus, Ventriculomegaly, Widely spaced teeth
IPC-div2	ARMC6	0.979603894	0.001893175	Unclassified	BrainSpLMD|93436	
IPC-div2	CDO1	0.312591621	0.001893218	Enzyme: Oxidoreductase	BrainSpLMD|1036	OMIM|603943
IPC-div2	KIAA0922	0.29869072	0.001898038			
IPC-div2	AC016739.2	0.408078449	0.001902935			
IPC-div2	CIRBP	0.394845983	0.001922402	RNA binding protein	BrainSpLMD|1153	OMIM|602649
IPC-div2	EEF1B2P3	0.647754884	0.001923547			
IPC-div2	WBP4	0.538602269	0.001926432	RNA binding protein	BrainSpLMD|11193	OMIM|604981
IPC-div2	TRIP4	0.25632699	0.001935921	Transcription regulatory protein	BrainSpLMD|9325;Eurexp|euxassay_003178|chondrocranium, dorsal root ganglion, ventricular layer, vibrissa;BrainSpMouseDev|35684	OMIM|604501;HPO|9325|Autosomal recessive inheritance, Centrally nucleated skeletal muscle fibers, Congenital onset, Diaphragmatic eventration, Dry skin, Follicular hyperkeratosis, Generalized amyotrophy, Generalized hypotonia, Motor delay, Muscular dystrophy, Neck muscle weakness, Peripheral axonal neuropathy, Respiratory insufficiency due to muscle weakness, Scoliosis, Severe muscular hypotonia, Spinal muscular atrophy, Spinal rigidity
IPC-div2	RNGTT	0.363888168	0.001942684	Enzyme: Adenosyltransferase	BrainSpLMD|8732	OMIM|603512
IPC-div2	XIST	0.370361344	0.00196562			OMIM|314670;HPO|7503|Spontaneous abortion
IPC-div2	LMNB1	0.270645207	0.001985036	Structural protein	BrainSpLMD|4001;Eurexp|euxassay_015910|axial skeleton, incisor, lung, marginal layer, metanephros, sublingual gland primordium, thymus primordium, thyroid, trachea, ventricular layer, vertebral axis muscle system	OMIM|150340;HPO|4001|Abnormal pyramidal signs, Abnormality of the urinary system, Adult onset, Ataxia, Autonomic bladder dysfunction, Autonomic erectile dysfunction, Autosomal dominant inheritance, Babinski sign, Constipation, Corpus callosum atrophy, Decreased sweating due to autonomic dysfunction, Depressivity, Diffuse leukoencephalopathy, Dilatation of the bladder, Gait disturbance, Gliosis, Hyperreflexia, Hypotension, Impotence, Leukodystrophy, Nystagmus, Orthostatic hypotension due to autonomic dysfunction, Personality changes, Progressive, Progressive neurologic deterioration, Pseudobulbar paralysis, Spasticity, Symmetric peripheral demyelination, Tetraparesis, Tremor, Urinary urgency
IPC-div2	TIPIN	0.40413215	0.001988162	Unclassified	BrainSpLMD|54962;Eurexp|euxassay_001794|cortex, lobe, thymus primordium, ventricular layer	OMIM|610716
IPC-div2	GCA	0.978191447	0.002001054	Calcium binding protein	BrainSpLMD|25801;Eurexp|euxassay_012524|ventricular layer	OMIM|607030
IPC-div2	GPR75.ASB3	1.061257625	0.002014783			
IPC-div2	NOTCH3	0.395913923	0.002036512	Cell surface receptor	BrainSpLMD|4854;BrainSpMouseDev|17898	OMIM|600276;HPO|4854|Abnormal electroretinogram, Abnormal form of the vertebral bodies, Abnormality of the hair, Abnormality of the metaphysis, Abnormality of the middle ear ossicles, Abnormality of the musculature, Abnormality of the rib cage, Abnormality of the skin, Abnormality of the skull, Abnormality of the thorax, Abnormality of visual evoked potentials, Adult onset, Amaurosis fugax, Aphasia, Arachnoid cyst, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Autosomal dominant inheritance, Biconcave vertebral bodies, Bone cyst, Cerebral cortical atrophy, Cerebral ischemia, Chondrocalcinosis, Coarse hair, Coma, Conductive hearing impairment, Confusion, Cranial nerve paralysis, Craniofacial hyperostosis, Cryptorchidism, Dementia, Dental crowding, Depressivity, Developmental regression, Dolichocephaly, Downslanted palpebral fissures, Dural ectasia, EEG abnormality, Elevated serum creatine phosphokinase, Fever, Gait disturbance, Generalized hypotonia, Gingival fibromatosis, Hemiplegia, High palate, High, narrow palate, Hypertelorism, Impaired pain sensation, Inguinal hernia, Joint hyperflexibility, Joint hypermobility, Kyphosis, Leukoencephalopathy, Long philtrum, Low posterior hairline, Low-set ears, Malar flattening, Memory impairment, Meningocele, Micrognathia, Migraine, Motor delay, Narrow face, Neoplasm of the lung, Neoplasm of the skin, Nonarteritic anterior ischemic optic neuropathy, Patent ductus arteriosus, Pectus excavatum, Platybasia, Posteriorly rotated ears, Prominent metopic ridge, Pseudobulbar paralysis, Ptosis, Recurrent subcortical infarcts, Retinal arteriolar tortuosity, Sclerosis of skull base, Scoliosis, Seizures, Sensory neuropathy, Short nasal bridge, Short neck, Short stature, Smooth philtrum, Spasticity, Stroke, Subcortical dementia, Subcutaneous nodule, Syringomyelia, Umbilical hernia, Urinary incontinence, Varicose veins, Vertebral fusion, Visual impairment, Wormian bones
IPC-div2	PDCL3	0.932346822	0.002046901	Unclassified	BrainSpLMD|79031	OMIM|611678
IPC-div2	KEAP1	1.355518576	0.00208244	Regulatory/other subunit;Unclassified	BrainSpLMD|9817	OMIM|606016;COSMIC||NSCLC, breast carcinoma;HPO|9817|Basal cell carcinoma, Colorectal polyposis, Multinodular goiter, Ovarian neoplasm, Pleuropulmonary blastoma, Renal cell carcinoma, Sertoli cell neoplasm, Testicular seminoma
IPC-div2	GPAA1	0.535866169	0.00211015	Anchor protein	BrainSpLMD|8733	OMIM|603048
IPC-div2	HNRNPA3P6	0.730131848	0.002117488			
IPC-div2	RAD23A	0.423109774	0.00212841	DNA repair protein	BrainSpLMD|5886	OMIM|600061
IPC-div2	SUGP2	0.559164987	0.002161656	RNA binding protein	BrainSpLMD|10147;Eurexp|euxassay_009811|mandible, maxilla, orbito-sphenoid, rib	OMIM|607993
IPC-div2	MCPH1	0.603104296	0.002168318	Unclassified	BrainSpLMD|79648	SFARI||Autism, 4 - Minimal evidence;OMIM|607117;HPO|79648|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Increased rate of premature chromosome condensation, Intellectual disability, Intellectual disability, severe, Microcephaly, Pachygyria, Seizures, Short stature, Sloping forehead, Small cerebral cortex, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
IPC-div2	MSH6	0.592388169	0.002186703	DNA repair protein	BrainSpLMD|2956;Eurexp|euxassay_006580|embryo	OMIM|600678;COSMIC||colorectal, colorectal, endometrial, ovarian;HPO|2956|Abdominal pain, Abnormality of abdomen morphology, Adenoma sebaceum, Anxiety, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary freckling, Basal cell carcinoma, Cafe-au-lait spot, Colon cancer, Constipation, Death in early adulthood, Death in infancy, Depressivity, Endometrial carcinoma, Ependymoma, Fatigue, Gastrointestinal hemorrhage, Glioblastoma, Hereditary nonpolyposis colorectal carcinoma, Hypermelanotic macule, Hypertonia, Incomplete penetrance, Increased intracranial pressure, Irritability, Leukemia, Lymphoma, Malabsorption, Medulloblastoma, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Neoplasm of the stomach, Neuroblastoma, Rhabdomyosarcoma, Seizures, Weight loss
IPC-div2	ANAPC7	0.97658684	0.002195474	Cell cycle control protein		OMIM|606949
IPC-div2	UQCRQ	0.748901172	0.002195586	Unclassified	BrainSpLMD|27089	OMIM|612080;HPO|27089|Abnormality of extrapyramidal motor function, Absent speech, Ataxia, Athetosis, Autosomal recessive inheritance, Dystonia, Generalized hypotonia, Global developmental delay, Hyperreflexia, Increased serum lactate, Intellectual disability, Intellectual disability, severe
IPC-div2	NHLRC2	0.538733797	0.002219416	Unclassified	BrainSpLMD|374354;Eurexp|euxassay_000151|incisor, inferior, oculomotor III, olfactory I, optic II, trigeminal V, vagus X, valve, ventricular layer	
IPC-div2	SF3A3	0.558187422	0.002220319	RNA binding protein	BrainSpLMD|10946	OMIM|605596
IPC-div2	MYO1E	0.893357618	0.002243549	Motor protein	BrainSpLMD|4643	OMIM|601479;HPO|4643|Autosomal recessive inheritance, Chronic kidney disease, Edema, Focal segmental glomerulosclerosis, Hematuria, Hypoalbuminemia, Nephrotic syndrome, Progressive, Proteinuria, Tubular atrophy
IPC-div2	YY1	1.416406475	0.002269837	Transcription factor	BrainSpLMD|7528	SFARI||Autism, No category;OMIM|600013
IPC-div2	ATG10	0.875464708	0.002279249	Unclassified	BrainSpLMD|83734	OMIM|610800
IPC-div2	FAM60CP	0.376001106	0.002317854			
IPC-div2	USP39	0.469405186	0.002322565	Ubiquitin proteasome system protein	BrainSpLMD|10713	OMIM|611594
IPC-div2	PRKD3	0.595070606	0.00233302	Serine/threonine kinase	BrainSpLMD|23683	OMIM|607077
IPC-div2	EIF2B1	0.603389931	0.002335052	Translation regulatory protein	BrainSpLMD|1967;Eurexp|euxassay_000005|anterior epithelium, cerebral cortex, cervico-thoracic, chondrocranium, cortical region, dermis, dorsal root ganglion, epithelium, facial VII, frontal bone primordium, ganglion, glossopharyngeal IX, inferior, inter-parietal bone primordium, left lung, liver, lobe, lung, male, mantle layer, marginal layer, medulla oblongata, midbrain, middle, nucleus polposus, olfactory lobe, parietal bone, petrous part, physiological umbilical hernia, pineal primordium, squamous part, submandibular gland primordium, telencephalon, temporal bone, thoracic, tooth, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|606686;HPO|1967|Autosomal recessive inheritance, CNS demyelination, Cerebral hypomyelination, Cessation of head growth, Decreased circulating progesterone, Delusions, Developmental regression, Dysarthria, Emotional lability, Generalized hypotonia, Juvenile onset, Lethargy, Leukoencephalopathy, Macrocephaly, Memory impairment, Optic atrophy, Personality changes, Premature ovarian insufficiency, Primary gonadal insufficiency, Secondary amenorrhea, Seizures, Spasticity, Unsteady gait
IPC-div2	TMTC4	0.788387598	0.002359839	Integral membrane protein	BrainSpLMD|84899;Eurexp|euxassay_007002|embryo	
IPC-div2	POLR2G	0.305876257	0.002410842	RNA polymerase	BrainSpLMD|5436	OMIM|602013
IPC-div2	NFYC	0.595008173	0.002415181	Transcription factor	BrainSpLMD|4802;BrainSpMouseDev|17813	OMIM|605344
IPC-div2	MYL6	0.338674431	0.002421095	Cytoskeletal protein	BrainSpLMD|4637	OMIM|609931
IPC-div2	NSL1	0.568731198	0.002478642	Unclassified	BrainSpLMD|25936	OMIM|609174
IPC-div2	CEP78	0.487788231	0.002525727	Unclassified		OMIM|617110;HPO|84131|Abnormal electroretinogram, Abnormality of cochlea, Astigmatism, Ataxia, Autosomal recessive inheritance, Cataract, Hemianopia, High-grade hypermetropia, Iris hypopigmentation, Macular degeneration, Nyctalopia, Nystagmus, Photophobia, Scotoma, Sensorineural hearing impairment, Vestibular hypofunction, Visual loss
IPC-div2	UBTF	0.61275108	0.00252578	Transcription factor	BrainSpLMD|7343;BrainSpMouseDev|21190	OMIM|600673
IPC-div2	FANCA	0.993818054	0.002540133	DNA binding protein	BrainSpLMD|2175	OMIM|607139;COSMIC||AML, leukaemia;HPO|2175|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of skin pigmentation, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anemia, Anemic pallor, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bruising susceptibility, Cafe-au-lait spot, Chromosomal breakage induced by crosslinking agents, Complete duplication of thumb phalanx, Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Duplicated collecting system, Ectopic kidney, Esophageal atresia, Global developmental delay, Hearing impairment, Horseshoe kidney, Hypergonadotropic hypogonadism, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukemia, Leukopenia, Microcephaly, Microphthalmia, Neutropenia, Pancytopenia, Prolonged G2 phase of cell cycle, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Reticulocytopenia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Small for gestational age, Strabismus, Thrombocytopenia, Tracheoesophageal fistula
IPC-div2	MTBP	0.572503125	0.002547753	Cell junction protein	BrainSpLMD|27085;Eurexp|euxassay_005329|ventricular layer	OMIM|605927
IPC-div2	TJP1	0.845017086	0.002608115	Cell junction protein	BrainSpLMD|7082;Eurexp|euxassay_018809|brain, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, left lung, meninges, metanephros, right lung, spinal cord, trigeminal V	OMIM|601009
IPC-div2	SPAG9	0.422007708	0.002611635	Integral membrane protein	BrainSpLMD|9043;Eurexp|euxassay_014482|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vestibulocochlear VIII	OMIM|605430
IPC-div2	RP11.734J24.1	0.418145253	0.002621618			
IPC-div2	DNAJC15	0.360600766	0.002678233	Unclassified	BrainSpLMD|29103;Eurexp|euxassay_002653|adrenal gland	OMIM|615339
IPC-div2	UTP11L	0.492145392	0.002702694			
IPC-div2	PSMD12	0.255627494	0.002709495	Ubiquitin proteasome system protein	BrainSpLMD|5718;Eurexp|euxassay_003452|adenohypophysis, adrenal gland, bladder, central nervous system, cervical, cervico-thoracic, dorsal root ganglion, epidermis, epithelium, glossopharyngeal IX, heart, hindlimb, incisor, larynx, limb, liver, lung, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, pancreas, penis, pharyngo-tympanic tube, respiratory, rib, stomach, stroma, submandibular gland primordium, thoracic, thymus primordium, tongue, trigeminal V, vagus X, vertebral axis muscle system, vibrissa	SFARI||Autism, No category;OMIM|604450
IPC-div2	TMEM138	0.783291946	0.002710703	Integral membrane protein	BrainSpLMD|51524;Eurexp|euxassay_012505|choroid invagination, choroid plexus, ventricular layer	OMIM|614459;HPO|51524|Apnea, Ataxia, Autistic behavior, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Coloboma, Global developmental delay, Intellectual disability, Iris coloboma, Long face, Low-set, posteriorly rotated ears, Molar tooth sign on MRI, Muscular hypotonia, Nephropathy, Nystagmus, Oculomotor apraxia, Ptosis, Retinal dystrophy, Tachypnea
IPC-div2	ZNF184	0.769493686	0.002721831	Transcription regulatory protein	Eurexp|euxassay_000250|cortex, dorsal root ganglion, incisor, lung, mantle layer, molar, oesophagus, submandibular gland primordium, trachea, vibrissa;BrainSpMouseDev|83115	OMIM|602277
IPC-div2	SPCS3	0.44530875	0.002768684	Protease	BrainSpLMD|60559	
IPC-div2	ALDH16A1	0.679764247	0.002774624	Unclassified	BrainSpLMD|126133	OMIM|613358
IPC-div2	DHX8	0.546188234	0.002832058	RNA binding protein	BrainSpLMD|1659	OMIM|600396
IPC-div2	POM121C	0.889567414	0.002844513	Unclassified		OMIM|615754
IPC-div2	SEMA5B	0.679488034	0.002862731	Integral membrane protein	BrainSpLMD|54437;BrainSpMouseDev|20120	OMIM|609298
IPC-div2	USP10	0.287411431	0.002874041	Ubiquitin proteasome system protein	BrainSpLMD|9100	OMIM|609818
IPC-div2	CLIC1	0.859046093	0.002879681	Intracellular ligand gated channel	BrainSpLMD|1192	OMIM|602872
IPC-div2	EIF2B4	0.996398586	0.002880969	Translation regulatory protein	BrainSpLMD|8890	OMIM|606687;HPO|8890|Autosomal recessive inheritance, CNS demyelination, Cerebral hypomyelination, Cessation of head growth, Decreased circulating progesterone, Delusions, Developmental regression, Dysarthria, Emotional lability, Generalized hypotonia, Juvenile onset, Lethargy, Leukoencephalopathy, Macrocephaly, Memory impairment, Optic atrophy, Personality changes, Premature ovarian insufficiency, Primary gonadal insufficiency, Secondary amenorrhea, Seizures, Spasticity, Unsteady gait
IPC-div2	DERL2	0.355132974	0.002884726	Integral membrane protein	BrainSpLMD|51009	OMIM|610304
IPC-div2	AC019097.7	0.300092951	0.002886325			
IPC-div2	PDE7A	0.41911409	0.002918388	Enzyme: Phosphodiesterase	BrainSpLMD|5150	OMIM|171885
IPC-div2	CEP97	0.414957733	0.00292358	Unclassified	BrainSpLMD|79598	OMIM|615864
IPC-div2	XPC	1.402470078	0.00292771	DNA binding protein	BrainSpLMD|7508;Eurexp|euxassay_007481|embryo	SFARI||Autism, No category;OMIM|613208;COSMIC||skin basal cell, skin squamous cell, melanoma;HPO|7508|Abnormality of the dentition, Arthralgia, Autosomal recessive inheritance, Basal cell carcinoma, Cataract, Childhood onset, Cognitive impairment, Conjunctival telangiectasia, Conjunctivitis, Cryptorchidism, Cutaneous melanoma, Cutaneous photosensitivity, Defective DNA repair after ultraviolet radiation damage, Dermal atrophy, Developmental regression, Dry skin, EEG abnormality, Ectropion, Entropion, Erythema, Failure to thrive, Fatigue, Fever, Freckling, Hyperkeratosis, Hypermelanotic macule, Hypogonadism, Hypopigmentation of the skin, Hypopigmented skin patches, Intellectual disability, progressive, Keratitis, Melanoma, Optic atrophy, Papilloma, Photophobia, Poikiloderma, Sensorineural hearing impairment, Squamous cell carcinoma of the skin, Strabismus, Telangiectasia, Telangiectasia of the skin, Thin skin
IPC-div2	SPIDR	1.25316491	0.002931267	Unclassified		OMIM|615384;HPO|23514|Aplasia/Hypoplasia of the breasts, Aplasia/hypoplasia of the uterus, Decreased fertility, Decreased serum estradiol, Delayed puberty, Delayed skeletal maturation, Gonadal dysgenesis, Increased circulating gonadotropin level, Osteopenia, Osteoporosis of vertebrae, Premature ovarian insufficiency, Primary amenorrhea, Sparse pubic hair, Streak ovary
IPC-div2	NAE1	0.730731958	0.002969596	Adapter molecule	BrainSpLMD|8883	OMIM|603385
IPC-div2	MED12L	0.497295622	0.003052023	Unclassified	BrainSpLMD|116931	OMIM|611318
IPC-div2	DKFZP667B1610	0.306926297	0.003097272			
IPC-div2	TMEM47	0.839798024	0.003109518	Integral membrane protein	BrainSpLMD|83604;Eurexp|euxassay_008336|ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|300698
IPC-div2	SNRPF	0.477168371	0.003141059	Ribonucleoprotein	BrainSpLMD|6636	OMIM|603541
IPC-div2	SMIM19	0.799269983	0.003234659	Integral membrane protein	BrainSpLMD|114926	
IPC-div2	PLXNB2	0.367315197	0.003240637	Cell surface receptor	Eurexp|euxassay_014231|choroid plexus, mandible, marginal layer, molar, naris, olfactory, ventricular layer, vomeronasal organ;BrainSpMouseDev|79944	OMIM|604293
IPC-div2	HIP1	0.838297608	0.0032561	Structural protein	BrainSpLMD|3092	OMIM|601767;COSMIC||CMML, NSCLC
IPC-div2	C12orf65	0.592504459	0.0032793	Unclassified	BrainSpLMD|91574	OMIM|613541;HPO|91574|Abnormality of color vision, Areflexia, Ataxia, Autosomal recessive inheritance, Developmental regression, Distal sensory impairment, Dysarthria, Facial diplegia, Failure to thrive, Generalized hypotonia, Global developmental delay, Increased CSF lactate, Increased serum lactate, Intellectual disability, Nystagmus, Ophthalmoplegia, Optic atrophy, Paralytic ileus, Progressive, Ptosis, Skeletal muscle atrophy, Spasticity, Strabismus, Visual impairment
IPC-div2	BANP	0.699591573	0.00328648	Transcription factor;Cell cycle control protein	BrainSpLMD|54971	OMIM|611564
IPC-div2	CRLF3	0.700951831	0.003298434	Unclassified	BrainSpLMD|51379;Eurexp|euxassay_008617|liver, thymus primordium	OMIM|614853
IPC-div2	NBN	0.834592343	0.003316303	DNA repair protein	BrainSpLMD|4683	OMIM|602667;COSMIC||NHL, glioma, medulloblastoma, rhabdomyosarcoma;HPO|4683|Abnormal hair quantity, Abnormality of chromosome stability, Abnormality of the fallopian tube, Acute lymphoblastic leukemia, Anal atresia, Anal stenosis, Aplastic anemia, Attention deficit hyperactivity disorder, Autoimmune hemolytic anemia, Autosomal recessive inheritance, B lymphocytopenia, Bone marrow hypocellularity, Breast carcinoma, Bronchiectasis, Cachexia, Cafe-au-lait spot, Choanal atresia, Chronic diarrhea, Cleft palate, Cleft upper lip, Convex nasal ridge, Decrease in T cell count, Deep philtrum, Depressed nasal bridge, Diarrhea, Dysgammaglobulinemia, Glioma, Hearing abnormality, Hydronephrosis, Hyperactivity, Intellectual disability, Intrauterine growth retardation, Long nose, Low anterior hairline, Lymphoma, Macrotia, Malar prominence, Mastoiditis, Medulloblastoma, Mental deterioration, Microcephaly, Micrognathia, Neurodegeneration, Otitis media, Ovarian neoplasm, Pollakisuria, Polygenic inheritance, Premature ovarian insufficiency, Primary peritoneal carcinoma, Progressive vitiligo, Prominent nasal bridge, Prominent nose, Recurrent bronchitis, Recurrent infection of the gastrointestinal tract, Recurrent pneumonia, Recurrent sinopulmonary infections, Recurrent urinary tract infections, Retrognathia, Rhabdomyosarcoma, Short neck, Short stature, Sinusitis, Sloping forehead, Thrombocytopenia, Upslanted palpebral fissure
IPC-div2	IGF2R	0.843856722	0.003332337	Cell surface receptor	BrainSpLMD|3482;Eurexp|euxassay_001742|cardiovascular system, choroid plexus, gland, integumental system, sensory organ, visceral organ	OMIM|147280;HPO|3482|Autosomal dominant inheritance, Hepatocellular carcinoma, Heterogeneous, Micronodular cirrhosis, Somatic mutation, Subacute progressive viral hepatitis
IPC-div2	CMSS1	0.733214753	0.003381453	Unclassified	BrainSpLMD|84319	
IPC-div2	EIF2AK1	0.780480825	0.00339756	Enzyme: Phosphotransferase	BrainSpLMD|27102	OMIM|613635
IPC-div2	RP11.473N11.2	0.459696645	0.003402284			
IPC-div2	NCSTN	0.47102946	0.003416921	Integral membrane protein	BrainSpLMD|23385;BrainSpMouseDev|37711	OMIM|605254;HPO|23385|Acne inversa, Atypical scarring of skin, Autosomal dominant inheritance
IPC-div2	IFNGR1	0.943527416	0.003471573	Cytokine receptor	BrainSpLMD|3459;Eurexp|euxassay_002874|Meckel's cartilage, chondrocranium, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, rectum, stomach, thymus primordium	SFARI||Autism, 5 - Hypothesized but untested;OMIM|107470;HPO|3459|Abnormality of abdomen morphology, Abnormality of blood and blood-forming tissues, Autosomal dominant inheritance, Autosomal recessive inheritance, Generalized lymphadenopathy, Immunodeficiency, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteomyelitis
IPC-div2	ERI1	0.442654357	0.003494218	Ribonuclease	BrainSpLMD|90459	OMIM|608739
IPC-div2	FOXRED1	0.657045993	0.003499624	Unclassified	BrainSpLMD|55572	OMIM|613622;HPO|55572|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, CNS demyelination, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Dysarthria, Dystonia, Emotional lability, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Gliosis, Global developmental delay, Growth delay, Hepatic failure, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Phenotypic variability, Pigmentary retinopathy, Progressive, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
IPC-div2	TMEM41A	1.135106715	0.00350968	Integral membrane protein	BrainSpLMD|90407	
IPC-div2	MRPS7	0.644811358	0.003545143	Ribosomal subunit	BrainSpLMD|51081	OMIM|611974
IPC-div2	STK17A	0.571147815	0.003558309	Serine/threonine kinase	BrainSpLMD|9263	OMIM|604726
IPC-div2	RNF165	0.793100388	0.003565771		BrainSpLMD|494470	
IPC-div2	PPP1CA	0.737264546	0.003568634	Serine/threonine phosphatase	BrainSpLMD|5499	OMIM|176875
IPC-div2	PI4KAP2	0.535057332	0.003638144			
IPC-div2	MAGOHB	0.894517992	0.003673723	Unclassified	BrainSpLMD|55110	
IPC-div2	AIF1L	0.444420962	0.003699352	Calcium binding protein	BrainSpLMD|83543;Eurexp|euxassay_002250|basisphenoid bone, orbito-sphenoid, turbinate, ventricular layer	
IPC-div2	CTC.359D24.3	0.394182395	0.00371341			
IPC-div2	THAP5	0.308390372	0.003778323	DNA binding protein	BrainSpLMD|168451	OMIM|612534
IPC-div2	GLRX3	0.428560376	0.003809783	Unclassified	BrainSpLMD|10539	OMIM|612754
IPC-div2	PDHA1	0.489711399	0.003832493	Enzyme: Dehydrogenase	BrainSpLMD|5160	OMIM|300502;HPO|5160|Abnormality of eye movement, Agenesis of corpus callosum, Anteverted nares, Apneic episodes precipitated by illness, fatigue, stress, Basal ganglia cysts, Cerebral atrophy, Choreoathetosis, Chronic lactic acidosis, Decreased activity of the pyruvate dehydrogenase complex, Dystonia, Episodic ataxia, Flared nostrils, Frontal bossing, Generalized hypotonia, Global developmental delay, Hyperalaninemia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lethargy, Long philtrum, Microcephaly, Phenotypic variability, Ptosis, Seizures, Severe lactic acidosis, Small for gestational age, Ventriculomegaly, Wide nasal bridge, X-linked dominant inheritance
IPC-div2	PNN	0.374685242	0.003836463	Adhesion molecule	BrainSpLMD|5411;BrainSpMouseDev|18712	OMIM|603154
IPC-div2	PTMAP4	0.28915118	0.003877434			
IPC-div2	CCDC144CP	0.290118965	0.003880284			
IPC-div2	STX16	0.33602754	0.003886695	Transport/cargo protein	BrainSpLMD|8675;Eurexp|euxassay_014483|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vestibulocochlear VIII	OMIM|603666;HPO|8675|Autosomal dominant inheritance, Cataract, Delayed eruption of teeth, Depressed nasal bridge, Elevated circulating parathyroid hormone level, Full cheeks, Hyperphosphatemia, Hypocalcemia, Hypoplasia of dental enamel, Low urinary cyclic AMP response to PTH administration, Nystagmus, Pseudohypoparathyroidism, Round face, Short neck, Short stature, Sporadic
IPC-div2	ZNF682	0.370876426	0.003895225	Transcription regulatory protein	BrainSpLMD|91120	
IPC-div2	APOO	0.772741271	0.003914868	Unclassified	BrainSpLMD|79135;Eurexp|euxassay_008790|left, right	OMIM|300753
IPC-div2	COPS3	0.646837185	0.004000378	Transcription regulatory protein	BrainSpLMD|8533	OMIM|604665
IPC-div2	SAAL1	0.577967891	0.004054743	Unclassified	BrainSpLMD|113174	
IPC-div2	ZNF106	0.470902568	0.004091603	DNA binding protein	BrainSpLMD|64397;Eurexp|euxassay_010261|skeletal muscle, vertebral axis muscle system	
IPC-div2	ATXN10	0.360015028	0.00415677	Unclassified	BrainSpLMD|25814	OMIM|611150;HPO|25814|Abnormal pyramidal signs, Abnormality of extrapyramidal motor function, Autosomal dominant inheritance, Cerebellar atrophy, Decreased nerve conduction velocity, Dementia, Depressivity, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysphagia, Gait ataxia, Genetic anticipation, Hyperreflexia, Incomplete penetrance, Incoordination, Limb ataxia, Morphological abnormality of the pyramidal tract, Nystagmus, Progressive cerebellar ataxia, Scanning speech, Seizures, Urinary incontinence, Urinary urgency
IPC-div2	ADH5	0.561598719	0.004164554	Enzyme: Oxidoreductase	BrainSpLMD|128;Eurexp|euxassay_006991|embryo	OMIM|103710
IPC-div2	EIF3G	0.362890412	0.004186381	Translation regulatory protein	BrainSpLMD|8666	SFARI||Autism, 4 - Minimal evidence;OMIM|603913
IPC-div2	KDELC2	0.45695171	0.004209597	Unclassified	BrainSpLMD|143888	
IPC-div2	FGD5.AS1	0.511717379	0.004223495			
IPC-div2	TCEB1	0.280286099	0.004332773			
IPC-div2	MEGF9	0.465694867	0.004351405	Calcium binding protein	BrainSpLMD|1955	OMIM|604268
IPC-div2	RAE1	0.478530212	0.00441172	RNA binding protein	BrainSpLMD|8480	OMIM|603343
IPC-div2	FARSA	0.654713698	0.004454223	Enzyme: Ligase	BrainSpLMD|2193;Eurexp|euxassay_012957|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|602918
IPC-div2	FANCF	0.83883121	0.004472714	DNA binding protein	BrainSpLMD|2188	OMIM|613897;COSMIC||AML, leukaemia;HPO|2188|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bone marrow hypocellularity, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
IPC-div2	NSD1	0.770448709	0.004497624	Transcription factor	BrainSpLMD|64324;BrainSpMouseDev|17960	SFARI||Autism, No category;OMIM|606681;COSMIC||AML, Sotos Syndrome;HPO|64324|Abnormal glucose tolerance, Abnormality of immune system physiology, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Accelerated skeletal maturation, Adrenocortical carcinoma, Adrenocortical cytomegaly, Advanced eruption of teeth, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Atrial septal defect, Autosomal dominant inheritance, Behavioral abnormality, Broad foot, Broad forehead, Broad thumb, Camptodactyly of finger, Cardiomegaly, Cardiomyopathy, Cavum septum pellucidum, Coarse facial features, Conductive hearing impairment, Cryptorchidism, Dandy-Walker malformation, Deep philtrum, Deep-set nails, Delayed skeletal maturation, Depressed nasal ridge, Diastasis recti, Dolichocephaly, Downslanted palpebral fissures, Enlarged cisterna magna, Enlarged kidney, Expressive language delay, Feeding difficulties in infancy, Fine hair, Frontal bossing, Genu valgum, Global developmental delay, Gonadoblastoma, Hemihypertrophy, Hepatoblastoma, Hepatomegaly, High anterior hairline, High forehead, High palate, High, narrow palate, Hoarse voice, Hypermetropia, Hyperreflexia, Hypertelorism, Hypoglycemia, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Joint laxity, Joint stiffness, Large fontanelles, Large hands, Long foot, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Macrotia, Mandibular prognathia, Microcephaly, Micrognathia, Midface retrusion, Muscular hypotonia, Myopia, Narrow palate, Neonatal hypoglycemia, Neonatal hypotonia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Nystagmus, Obesity, Omphalocele, Otitis media, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Pes planus, Pointed chin, Poor coordination, Posterior helix pit, Precocious puberty, Prominent forehead, Prominent metopic ridge, Prominent occiput, Proptosis, Redundant skin, Renal cortical cysts, Retrognathia, Round face, Scoliosis, Seizures, Short stature, Small nail, Spasticity, Specific learning disability, Sporadic, Strabismus, Tall stature, Thin nail, Ventricular septal defect, Ventriculomegaly, Vesicoureteral reflux
IPC-div2	PARK7	0.400729231	0.004500012	RNA binding protein	BrainSpLMD|11315	OMIM|602533;HPO|11315|Adult onset, Anxiety, Autosomal recessive inheritance, Blepharospasm, Bradykinesia, Postural tremor, Psychotic episodes, Resting tremor, Rigidity, Slow progression
IPC-div2	AP000962.2	0.725780856	0.004515456			
IPC-div2	TTC21B	0.606232693	0.004547728	Unclassified	BrainSpLMD|79809	OMIM|612014;HPO|79809|Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Autosomal dominant inheritance, Autosomal recessive inheritance, Brachydactyly, Cone-shaped epiphysis, Micromelia, Narrow chest, Nephronophthisis, Respiratory insufficiency, Retinal degeneration, Short foot, Short long bone, Short ribs, Short stature, Short thorax, Skeletal dysplasia, Stage 5 chronic kidney disease
IPC-div2	SNX3	0.607004668	0.004605508	Transport/cargo protein	BrainSpLMD|8724;Eurexp|euxassay_015289|nucleus pulposus, thymus primordium, ventricular layer	OMIM|605930
IPC-div2	ALAS1	0.513095814	0.004632537	Enzyme: Synthase	BrainSpLMD|211;Eurexp|euxassay_009192|liver, medulla	OMIM|125290
IPC-div2	KHDRBS1	0.483434875	0.004659088	RNA binding protein	BrainSpLMD|10657	OMIM|602489
IPC-div2	AP3M1	0.534969773	0.004674631	Transport/cargo protein	BrainSpLMD|26985	OMIM|610366
IPC-div2	U2AF2	0.552734092	0.004706428	RNA binding protein	BrainSpLMD|11338;Eurexp|euxassay_003614|bladder, hindgut, left, midgut, naris, oesophagus, olfactory, rectum, respiratory, right, stomach, submandibular gland primordium, thymus primordium, thyroid, urethra, vibrissa	OMIM|191318
IPC-div2	RPL8	0.311749128	0.004710704	Ribosomal subunit	BrainSpLMD|6132;Eurexp|euxassay_006230|left, right	OMIM|604177
IPC-div2	ACTR3	0.645839661	0.004721767	Cytoskeletal protein	BrainSpLMD|10096	OMIM|604222
IPC-div2	RALY	0.395159478	0.004731108	RNA binding protein	BrainSpLMD|22913	OMIM|614663
IPC-div2	HAUS2	0.674489207	0.004752945	Unclassified	BrainSpLMD|55142	OMIM|613429
IPC-div2	PM20D2	0.815377667	0.00476468	Metallo protease		OMIM|615913
IPC-div2	LSM14A	0.391218857	0.004766112	Unclassified	BrainSpLMD|26065	OMIM|610677;COSMIC||Spitzoid tumour
IPC-div2	CALM2P2	1.659705516	0.004784932			
IPC-div2	FIBP	0.555160226	0.004802606	Unclassified	BrainSpLMD|9158	OMIM|608296;HPO|9158|Autosomal recessive inheritance, Bifid ureter, Coloboma, Deeply set eye, Downslanted palpebral fissures, Epicanthus, Global developmental delay, Hypertelorism, Intellectual disability, mild, Large for gestational age, Large hands, Long foot, Long hallux, Macroglossia, Macrotia, Midface retrusion, Mitral valve prolapse, Overgrowth, Renal malrotation, Round face, Strabismus, Thick vermilion border, Varicose veins
IPC-div2	ASCL1	0.4467898	0.004878873	Transcription factor	BrainSpLMD|429;BrainSpMouseDev|16941	OMIM|100790;HPO|429|Abnormality of temperature regulation, Abnormality of the cardiovascular system, Abnormality of the mouth, Aganglionic megacolon, Autonomic dysregulation, Autosomal dominant inheritance, Breathing dysregulation, Central hypoventilation, Central sleep apnea, Constipation, Death in infancy, Downslanted palpebral fissures, Dysautonomia, Failure to thrive, Feeding difficulties, Ganglioneuroblastoma, Ganglioneuroma, Gastroesophageal reflux, Hyperhidrosis, Intellectual disability, Low-set ears, Muscular hypotonia, Posteriorly rotated ears, Seizures, Small for gestational age, Strabismus
IPC-div2	KDM3B	0.617468397	0.004887932	Unclassified	BrainSpLMD|51780	OMIM|609373
IPC-div2	ALG5	0.586442118	0.004902953	Enzyme: Glycosyltransferase	BrainSpLMD|29880	OMIM|604565
IPC-div2	DNAJC13	0.468788947	0.00507652	Unclassified;Chaperone	BrainSpLMD|23317;Eurexp|euxassay_010999|thymus primordium	OMIM|614334;HPO|23317|Autosomal dominant inheritance, Bradykinesia, Lewy bodies, Parkinsonism, Postural instability, Rigidity, Slow progression, Tremor
IPC-div2	ARHGAP11B	0.837195276	0.00508057	Unclassified		SFARI||Autism, No category;OMIM|616310
IPC-div2	TINF2	1.083734779	0.005106458	DNA binding protein	BrainSpLMD|26277;Eurexp|euxassay_002058|cortex, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|604319;HPO|26277|Abnormal blistering of the skin, Abnormality of coagulation, Abnormality of female internal genitalia, Abnormality of metabolism/homeostasis, Abnormality of neutrophils, Abnormality of the fingernails, Abnormality of the pharynx, Alopecia, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic anemia, Aplastic/hypoplastic toenail, Ataxia, Autosomal dominant inheritance, Bone marrow hypocellularity, Carious teeth, Cellular immunodeficiency, Cerebellar hypoplasia, Cerebral calcification, Cerebral cortical atrophy, Cirrhosis, Cryptorchidism, Delayed speech and language development, Dermal atrophy, Dry skin, Esophageal stenosis, Excessive wrinkled skin, Exudative retinopathy, Failure to thrive, Fine hair, Fine, reticulate skin pigmentation, Generalized hyperpigmentation, Generalized hypopigmentation of hair, Global developmental delay, Hearing impairment, Hyperhidrosis, Hypermelanotic macule, Hypertonia, Hypodontia, Hypopigmented skin patches, Immunodeficiency, Increased lacrimation, Intellectual disability, Interstitial pneumonitis, Intrauterine growth retardation, Leukocoria, Leukopenia, Lymphopenia, Malabsorption, Megalocornea, Microcephaly, Myelodysplasia, Nail dysplasia, Nail dystrophy, Nail pits, Nystagmus, Oral leukoplakia, Osteoporosis, Periodontitis, Phenotypic variability, Premature graying of hair, Premature loss of teeth, Progressive neurologic deterioration, Pulmonary fibrosis, Recurrent fractures, Recurrent respiratory infections, Reticular hyperpigmentation, Reticulated skin pigmentation, Retinopathy, Ridged fingernail, Ridged nail, Rough bone trabeculation, Short stature, Skin ulcer, Sparse hair, Sparse scalp hair, Specific learning disability, Sporadic, Squamous cell carcinoma of the skin, Taurodontia, Telangiectasia of the skin, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis, Ventriculomegaly
IPC-div2	CLGN	0.966593742	0.005124163	Chaperone	BrainSpLMD|1047	OMIM|601858
IPC-div2	NR2C2	0.299152981	0.005165329	Nuclear receptor	BrainSpLMD|7182;BrainSpMouseDev|21783	OMIM|601426
IPC-div2	ADNP	0.38635088	0.005178929	Transcription factor	BrainSpLMD|23394;BrainSpMouseDev|11325	SFARI||Autism, 1 - High confidence;OMIM|611386;HPO|23394|Autistic behavior, Autosomal dominant inheritance, Cleft eyelid, Downslanted palpebral fissures, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hyperactivity, Hypermetropia, Infantile onset, Intellectual disability, Joint laxity, Language impairment, Obesity, Obsessive-compulsive behavior, Prominent forehead, Ptosis, Recurrent infections, Short nose, Short stature, Small hand, Smooth philtrum, Stereotypy, Strabismus, Thin upper lip vermilion, Visual impairment, Wide nasal bridge
IPC-div2	POLDIP3	0.457921086	0.005210192	RNA binding protein	BrainSpLMD|84271	OMIM|611520
IPC-div2	CHMP1A	0.291838505	0.005257629	Metallo protease	BrainSpLMD|5119	SFARI||Autism, 3 - Suggestive evidence;OMIM|164010;HPO|5119|Absent speech, Astigmatism, Autosomal recessive inheritance, Cerebellar hypoplasia, Chorea, Congenital onset, Esotropia, Generalized hypotonia, Global developmental delay, Hypermetropia, Hyperreflexia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, Muscular hypotonia of the trunk, Myopia, Pes cavus, Poor speech, Postnatal microcephaly, Spasticity, Talipes equinovarus, Talipes valgus
IPC-div2	FIGN	0.743791283	0.005279539	ATPase	BrainSpLMD|55137;Eurexp|euxassay_013646|dorsal grey horn, mantle layer, marginal layer, ventral grey horn	OMIM|605295
IPC-div2	DUSP16	1.219467394	0.005324803	Dual specificity phosphatase	BrainSpLMD|80824;Eurexp|euxassay_009768|ventricular layer	OMIM|607175
IPC-div2	KIAA1731	0.553270471	0.005354086			
IPC-div2	CCNY	0.551266109	0.005384574	Unclassified	BrainSpLMD|219771	OMIM|612786
IPC-div2	DAD1	0.417555671	0.005393076	Adapter molecule	BrainSpLMD|1603;Eurexp|euxassay_012117|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|600243
IPC-div2	GPD2	1.160087492	0.005415353	Enzyme: Dehydrogenase	BrainSpLMD|2820;Eurexp|euxassay_018668|nucleus pulposus, submandibular gland primordium	SFARI||Autism, No category;OMIM|138430
IPC-div2	YBX1	0.253156852	0.005446288	Transcription factor	BrainSpLMD|4904	OMIM|154030
IPC-div2	KIF20B	0.582200195	0.005465376	Cell cycle control protein	BrainSpLMD|9585	OMIM|605498
IPC-div2	FAU	0.276864788	0.005526832	Ubiquitin proteasome system protein	BrainSpLMD|2197	OMIM|134690
IPC-div2	COX8A	0.510989111	0.005542408	Enzyme: Oxidoreductase	BrainSpLMD|1351	OMIM|123870
IPC-div2	PLEKHG4B	0.4758799	0.005551229	Guanine nucleotide exchange factor	BrainSpLMD|153478	
IPC-div2	QRICH1	0.475981527	0.005566859	Unclassified	BrainSpLMD|54870	SFARI||Autism, 4 - Minimal evidence;OMIM|617387
IPC-div2	HNRNPH3	0.405021726	0.005569289	Ribonucleoprotein	BrainSpLMD|3189;Eurexp|euxassay_013902|ventricular layer	OMIM|602324
IPC-div2	AC024560.3	0.376840327	0.005592544			
IPC-div2	CYCS	0.45288738	0.005709411	Enzyme: Oxidase	BrainSpLMD|54205;Eurexp|euxassay_000644|Meckel's cartilage, basal plate, calyces, chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, molar, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|123970;HPO|54205|Autosomal dominant inheritance, Thrombocytopenia
IPC-div2	RPL7AP6	0.962484605	0.005950208			
IPC-div2	POLR2H	0.851769516	0.00599006	RNA polymerase	BrainSpLMD|5437;Eurexp|euxassay_004889|cortex, mantle layer, submandibular gland primordium, testis, thymus primordium, ventricular layer;BrainSpMouseDev|89478	OMIM|606023
IPC-div2	FAM161A	0.87145634	0.005999277	Unclassified	Eurexp|euxassay_013156|choroid invagination, choroid plexus, roof plate	OMIM|613596;HPO|84140|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
IPC-div2	ENO2	0.546584817	0.006008313	Enzyme: Hydratase	BrainSpLMD|2026;Eurexp|euxassay_018457|dorsal root ganglion, facial VII, mantle layer, trigeminal V, vagus X, ventral grey horn	OMIM|131360
IPC-div2	STRA13	1.70468601	0.006028033			
IPC-div2	NPY	0.414383591	0.006139579	Unclassified	BrainSpLMD|4852;Eurexp|euxassay_000446|basal plate, diencephalon, dorsal grey horn, mantle layer, marginal layer, telencephalon;BrainSpMouseDev|73806	OMIM|162640
IPC-div2	CNTRL	0.271893346	0.006192114	Unclassified	BrainSpLMD|11064;Eurexp|euxassay_016548|ventricular layer;BrainSpMouseDev|26666	OMIM|605496;COSMIC||MPN, NHL
IPC-div2	ZNF423	0.926229498	0.006260467	DNA binding protein	BrainSpLMD|23090	OMIM|604557;HPO|23090|Apnea, Ataxia, Autistic behavior, Autosomal dominant inheritance, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Global developmental delay, Intellectual disability, Iris coloboma, Long face, Low-set, posteriorly rotated ears, Molar tooth sign on MRI, Muscular hypotonia, Nephronophthisis, Nephropathy, Nystagmus, Phenotypic variability, Polycystic kidney dysplasia, Ptosis, Retinal dystrophy, Tachypnea
IPC-div2	SP2	0.350277157	0.006274521	Transcription factor	BrainSpLMD|6668	OMIM|601801
IPC-div2	DCAF10	0.722195916	0.006399771	Unclassified	BrainSpLMD|79269	
IPC-div2	RAB8A	0.494753388	0.006415133	GTPase	BrainSpLMD|4218	OMIM|165040
IPC-div2	SLC36A4	0.751371134	0.006426605	Membrane transport protein	BrainSpLMD|120103	OMIM|613760
IPC-div2	BCLAF1	0.31192834	0.006511746	Transcription factor	BrainSpLMD|9774	OMIM|612588;COSMIC||melanoma, SCC
IPC-div2	ATP1B3	0.932355069	0.006525381	ATPase	BrainSpLMD|483	OMIM|601867
IPC-div2	S100PBP	0.786756313	0.006612565	Unclassified	BrainSpLMD|64766	OMIM|611889
IPC-div2	CTDSP2	0.859152505	0.006626922	Enzyme: Phosphatase	BrainSpLMD|10106;Eurexp|euxassay_004324|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail	OMIM|608711
IPC-div2	THOC5	1.388912618	0.006676837	Unclassified	BrainSpLMD|8563	OMIM|612733
IPC-div2	FADS1	0.437376748	0.00670331	Enzyme: Oxidoreductase	BrainSpLMD|3992;Eurexp|euxassay_000686|adrenal gland, testis	OMIM|606148
IPC-div2	PRPF6	0.383809958	0.006708667	Adapter molecule	BrainSpLMD|24148	OMIM|613979;HPO|24148|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Reduced visual acuity, Rod-cone dystrophy, Sensorineural hearing impairment, Visual impairment, Wide nasal bridge
IPC-div2	CSGALNACT2	0.294181568	0.006746857	Enzyme: Galactosyltransferase	BrainSpLMD|55454	OMIM|616616
IPC-div2	DDX56	1.107379301	0.006804173	RNA helicase	BrainSpLMD|54606	OMIM|608023
IPC-div2	USP46	0.595546215	0.006819354	Ubiquitin proteasome system protein	BrainSpLMD|64854	OMIM|612849
IPC-div2	BCS1L	0.553128867	0.006822055	Unclassified	BrainSpLMD|617	OMIM|603647;HPO|617|Abnormal pattern of respiration, Abnormality of the abdominal wall, Abnormality of the coagulation cascade, Alopecia, Aminoaciduria, Anhidrosis, Ataxia, Autosomal recessive inheritance, Brittle hair, CNS demyelination, Cataract, Cerebellar atrophy, Cerebral atrophy, Cholangitis, Cholestasis, Chronic lactic acidosis, Cirrhosis, Coarse hair, Death in early adulthood, Decreased liver function, Decreased mitochondrial complex III activity in liver tissue, Decreased transferrin saturation, Depressivity, Dry hair, Dysarthria, Dystonia, EEG abnormality, Elevated hepatic iron concentration, Elevated hepatic transaminases, Emotional lability, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Gliosis, Global developmental delay, Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Hallucinations, Hearing impairment, Hepatic steatosis, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hypogonadism, Increased CSF lactate, Increased serum ferritin, Increased serum iron, Increased serum lactate, Increased serum pyruvate, Infantile onset, Intellectual disability, Intrauterine growth retardation, Lactic acidosis, Metabolic acidosis, Microvesicular hepatic steatosis, Mitochondrial encephalopathy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Pili torti, Progressive, Ptosis, Ragged-red muscle fibers, Renal Fanconi syndrome, Respiratory failure, Rhabdomyolysis, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus, Tubulointerstitial nephritis, Variable expressivity
IPC-div2	ZNF826P	0.544385329	0.006853374	Unclassified		
IPC-div2	LSM8	0.365559014	0.006855864	RNA binding protein	BrainSpLMD|51691	OMIM|607288
IPC-div2	XRN2	0.287960974	0.006893871	Ribonuclease	BrainSpLMD|22803	OMIM|608851
IPC-div2	SSBP1	0.324190616	0.006908679	DNA binding protein	BrainSpLMD|6742;Eurexp|euxassay_001696|cortex, oesophagus, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|600439
IPC-div2	DDAH2	0.505654771	0.006926739	Enzyme: Hydrolase	BrainSpLMD|23564	OMIM|604744
IPC-div2	AIP	0.988967586	0.007004049	Transcription regulatory protein	BrainSpLMD|9049	OMIM|605555;HPO|9049|Abdominal obesity, Abnormal fear/anxiety-related behavior, Abnormal toenail morphology, Abnormality of hair density, Abnormality of the fingernails, Adrenocorticotropic hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Alkalosis, Amenorrhea, Anterior hypopituitarism, Anxiety, Arthralgia, Autosomal dominant inheritance, Biconcave vertebral bodies, Broad foot, Broad forehead, Broad jaw, Bruising susceptibility, Cardiomyopathy, Cerebral palsy, Coarse facial features, Cortical diaphyseal thickening of the upper limbs, Decreased circulating ACTH level, Decreased female libido, Decreased fertility in females, Decreased fertility in males, Deep palmar crease, Deep plantar creases, Depressivity, Diabetes mellitus, Dysmenorrhea, Dyspareunia, Easy fatigability, Edema, Facial erythema, Fatigue, Female hypogonadism, Frontal bossing, Full cheeks, Galactorrhea, Generalized hirsutism, Glucose intolerance, Growth hormone excess, Gynecomastia, Headache, Hirsutism, Hoarse voice, Hyperhidrosis, Hypertension, Hypogonadotrophic hypogonadism, Hypokalemia, Hypotension, Impotence, Increased circulating ACTH level, Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}, Joint swelling, Kyphosis, Large hands, Left ventricular hypertrophy, Long face, Long penis, Macrodactyly, Macroglossia, Macrotia, Male hypogonadism, Mandibular prognathia, Menstrual irregularities, Migraine, Mood changes, Nephrolithiasis, Oligomenorrhea, Osteoarthritis, Osteopenia, Osteoporosis, Pallor, Palpebral edema, Paresthesia, Pituitary adenoma, Pituitary growth hormone cell adenoma, Pituitary hypothyroidism, Pituitary prolactin cell adenoma, Poor wound healing, Progressive visual loss, Prolactin excess, Prolactinoma, Psychotic mentation, Purpura, Secondary growth hormone deficiency, Skeletal muscle atrophy, Sleep apnea, Somatic mutation, Spinal canal stenosis, Striae distensae, Symmetric great toe depigmentation, Synophrys, Tall stature, Tapered finger, Thick lower lip vermilion, Thin skin, Vertebral compression fractures, Vomiting, Wide nose, Widely spaced teeth
IPC-div2	SYPL1	0.875932818	0.007043519	Integral membrane protein	BrainSpLMD|6856;Eurexp|euxassay_005903|embryo	OMIM|616665
IPC-div2	ZNF143	0.478515338	0.007092737	DNA binding protein	BrainSpLMD|7702	OMIM|603433
IPC-div2	GNB4	0.547950719	0.007125085	G protein	BrainSpLMD|59345;Eurexp|euxassay_006820|aortic valve, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, mitral valve, neural retina, pulmonary valve, thoracic, tricuspid valve, trigeminal V, vagus X, valve, ventral grey horn;BrainSpMouseDev|14472	OMIM|610863;HPO|59345|Autosomal dominant inheritance, Axonal regeneration, Distal sensory impairment, Hammertoe, Hyporeflexia, Onion bulb formation, Pes cavus, Slow progression, Steppage gait
IPC-div2	ZNF326	0.697069497	0.007137676	DNA binding protein	BrainSpLMD|284695	OMIM|614601
IPC-div2	RPS7P11	0.837202785	0.007151927			
IPC-div2	TNPO2	0.53876602	0.007166544	Transport/cargo protein	BrainSpLMD|30000	OMIM|603002
IPC-div2	UFSP2	0.301106008	0.007201337	Protease	BrainSpLMD|55325;Eurexp|euxassay_002185|orbito-sphenoid, turbinate	OMIM|611482;HPO|55325|Abnormal ossification involving the femoral head and neck, Abnormality of bone mineral density, Abnormality of the epiphysis of the femoral head, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Broad femoral neck, Childhood onset, Flat capital femoral epiphysis, Hip dysplasia, Irregular capital femoral epiphysis, Osteoarthritis, Shallow acetabular fossae, Wide proximal femoral metaphysis
IPC-div2	RP3.417G15.1	0.282804231	0.007263374			
IPC-div2	SNRPC	1.316815856	0.007324548	Ribonucleoprotein	BrainSpLMD|6631	OMIM|603522
IPC-div2	GUK1	1.22880734	0.007371249	Enzyme: Phosphotransferase	BrainSpLMD|2987	OMIM|139270
IPC-div2	UCP2	0.654791744	0.007379909	Transport/cargo protein	BrainSpLMD|7351;Eurexp|euxassay_010584|liver, olfactory, vibrissa, vomeronasal organ	OMIM|601693;HPO|7351|Abnormality of fatty-acid metabolism, Coma, Diarrhea, Hepatomegaly, Hyperhidrosis, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Neonatal hypoglycemia, Pallor, Pancreatic islet-cell hyperplasia, Progressive neurologic deterioration, Tachycardia, Vomiting
IPC-div2	AARS	0.555178303	0.007483954	Enzyme: Ligase	BrainSpLMD|16	OMIM|601065;HPO|16|Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Blepharospasm, CNS hypomyelination, Cerebral atrophy, Chorea, Congenital onset, Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment, Epileptic encephalopathy, Failure to thrive, Foot dorsiflexor weakness, Generalized hypotonia, Global developmental delay, Hammertoe, Hip dislocation, Intrauterine growth retardation, Microcephaly, Nystagmus, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Sensorineural hearing impairment, Short stature, Skeletal muscle atrophy, Spasticity, Variable expressivity
IPC-div2	LAMA1	1.142105497	0.00751664	Extracellular matrix protein	BrainSpLMD|284217;Eurexp|euxassay_011017|epithelium, glomeruli, lens, meninges, renal/urinary system, ventricular layer;BrainSpMouseDev|16544	SFARI||Autism, 4 - Minimal evidence;OMIM|150320;HPO|284217|Abnormality of the periventricular white matter, Amblyopia, Autosomal recessive inheritance, Cerebellar cyst, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Delayed speech and language development, Dilated fourth ventricle, Motor delay, Myopia, Nystagmus, Oculomotor apraxia, Retinal atrophy, Retinal dystrophy, Retinal thinning, Strabismus, Variable expressivity
IPC-div2	MIR29B1	1.204917411	0.007531127			OMIM|610783
IPC-div2	PBX3	0.276173452	0.007540224	Transcription factor	BrainSpLMD|5090;Eurexp|euxassay_002571|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, pharyngo-tympanic tube, spinal cord;BrainSpMouseDev|18282	OMIM|176312
IPC-div2	SMS	0.837304143	0.007549077	Enzyme: Synthase	Eurexp|euxassay_011541|cervical, cervico-thoracic, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, incisor, left lung, mantle layer, metanephros, molar, neural retina, right lung, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|300105;HPO|6611|Abnormality of the pinna, Bifid uvula, Broad-based gait, Cleft palate, Cryptorchidism, Decreased muscle mass, Dental crowding, Dysarthria, Facial asymmetry, Generalized hypotonia, High, narrow palate, Hyperextensibility of the finger joints, Hypertelorism, Intellectual disability, Kyphoscoliosis, Long fingers, Long hallux, Long palm, Mandibular prognathia, Narrow palm, Nasal speech, Osteoporosis, Pectus carinatum, Pectus excavatum, Phenotypic variability, Recurrent fractures, Seizures, Severe Myopia, Short philtrum, Short stature, Talipes equinovarus, Tall stature, Thick lower lip vermilion, Webbed neck, Wide intermamillary distance, X-linked recessive inheritance
IPC-div2	COX6C	0.345069625	0.007590402	Regulatory/other subunit	BrainSpLMD|1345	OMIM|124090;COSMIC||uterine leiomyoma
IPC-div2	DDX55	0.366777672	0.007609617	RNA helicase	BrainSpLMD|57696	
IPC-div2	AC011043.1	0.722568829	0.007718085			
IPC-div2	TUFM	0.519924627	0.007727767	Translation regulatory protein	BrainSpLMD|7284	OMIM|602389;HPO|7284|Autosomal recessive inheritance, Death in infancy, Developmental regression, Encephalopathy, Hepatomegaly, Hyperammonemia, Increased serum lactate, Infantile onset, Intrauterine growth retardation, Lactic acidosis, Metabolic acidosis, Microcephaly, Neonatal hypotonia, Nystagmus, Opisthotonus, Polymicrogyria, Respiratory failure
IPC-div2	RHEB	0.974299795	0.007756315	GTPase	BrainSpLMD|6009;Eurexp|euxassay_000326|basioccipital bone, basisphenoid bone, dorsal root ganglion, midbrain, nucleus pulposus, olfactory lobe, otic capsule, ventricular layer;BrainSpMouseDev|19507	OMIM|601293
IPC-div2	ZNF713	0.399011669	0.007756563	DNA binding protein	BrainSpLMD|349075	SFARI||Autism, 4 - Minimal evidence;OMIM|616181
IPC-div2	ZIC2	0.658045315	0.007880255	Transcription regulatory protein	BrainSpLMD|7546;BrainSpMouseDev|22529	OMIM|603073;HPO|7546|Abnormal facial shape, Autosomal dominant inheritance, Global developmental delay, Holoprosencephaly, Hydrocephalus, Intellectual disability, Microcephaly, Synophrys, Trigonocephaly
IPC-div2	SERPING1	0.43276228	0.007887225	Protease inhibitor	BrainSpLMD|710	OMIM|606860;HPO|710|Abdominal pain, Abnormality of salivation, Abnormality of the larynx, Angioedema, Autoimmunity, Autosomal dominant inheritance, Dermatographic urticaria, Diarrhea, Dysphagia, Edema of the dorsum of hands, Erythema, Facial edema, Intestinal edema, Laryngeal edema, Limbal edema, Nausea, Paresthesia, Peripheral axonal neuropathy, Pharyngeal edema, Systemic lupus erythematosus, Tongue edema, Vomiting
IPC-div2	DAZAP1	0.35709091	0.007973911	RNA binding protein	BrainSpLMD|26528	OMIM|607430
IPC-div2	TP53BP2	0.634269466	0.008084	Cell cycle control protein	BrainSpLMD|7159	OMIM|602143
IPC-div2	TMEM128	0.278011322	0.008102492	Integral membrane protein	BrainSpLMD|85013	
IPC-div2	TCERG1	0.392610598	0.00826353	Transcription factor	BrainSpLMD|10915	OMIM|605409
IPC-div2	CSNK2A3	0.84817669	0.008347898			
IPC-div2	PSMD2	0.282503169	0.008406816	Ubiquitin proteasome system protein	BrainSpLMD|5708	OMIM|606223
IPC-div2	RNF38	0.274054325	0.008425963	Ubiquitin proteasome system protein	BrainSpLMD|152006;Eurexp|euxassay_009782|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, 4 - Minimal evidence;OMIM|612488
IPC-div2	SUMO3	0.515421579	0.008437226	Ubiquitin proteasome system protein	BrainSpLMD|6612	OMIM|602231
IPC-div2	C19orf53	0.885952785	0.008457181	Unclassified	BrainSpLMD|28974	
IPC-div2	RP5.821D11.7	0.706809588	0.008496959			
IPC-div2	PCBD2	0.358790562	0.008514652	Enzyme: Dehydratase	BrainSpLMD|84105	OMIM|609836
IPC-div2	LRIG3	1.478755886	0.008569943	Unclassified	BrainSpLMD|121227	OMIM|608870;COSMIC||NSCLC
IPC-div2	F2R	0.314935007	0.008762224	G protein coupled receptor	BrainSpLMD|2149;Eurexp|euxassay_009165|mesenchyme	OMIM|187930
IPC-div2	LINC00493	0.372093705	0.008815253			
IPC-div2	GINM1	0.832306078	0.008845881	Integral membrane protein	BrainSpLMD|116254	
IPC-div2	MRPL42	0.466719039	0.008895692	Ribosomal subunit	BrainSpLMD|28977	OMIM|611847
IPC-div2	MLH1	0.547232573	0.008977482	DNA repair protein	BrainSpLMD|4292	OMIM|120436;COSMIC||colorectal, endometrial, ovarian, CNS tumours, colorectal, endometrial, ovarian, CNS;HPO|4292|Abdominal pain, Abnormality of abdomen morphology, Adenoma sebaceum, Anxiety, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary freckling, Basal cell carcinoma, Benign gastrointestinal tract tumors, Benign genitourinary tract neoplasm, Breast carcinoma, Cafe-au-lait spot, Colon cancer, Colonic diverticula, Constipation, Death in early adulthood, Death in infancy, Depressivity, Duodenal adenocarcinoma, Ependymoma, Fatigue, Gastrointestinal hemorrhage, Glioblastoma, Hypermelanotic macule, Hypertonia, Increased intracranial pressure, Irritability, Laryngeal carcinoma, Leukemia, Lymphoma, Malabsorption, Malignant genitourinary tract tumor, Medulloblastoma, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Neoplasm of the stomach, Neuroblastoma, Rhabdomyosarcoma, Sebaceous gland carcinoma, Seizures, Weight loss
IPC-div2	EHMT1	0.740281685	0.009014261	Enzyme: Methyltransferase	BrainSpLMD|79813	SFARI||Autism, 3 - Suggestive evidence;OMIM|607001;HPO|79813|Abnormality of the cardiac septa, Abnormality of the pinna, Absence seizures, Aggressive behavior, Anteverted nares, Aphasia, Autism, Autosomal dominant inheritance, Brachycephaly, Brachydactyly, Coarse facial features, Cryptorchidism, Delayed speech and language development, Downturned corners of mouth, Dysphasia, Echolalia, Epileptic spasms, Everted lower lip vermilion, Flat face, Flat occiput, Generalized hypotonia, Global developmental delay, Highly arched eyebrow, Hypertelorism, Hypospadias, Intellectual disability, Intellectual disability, severe, Macroglossia, Malar flattening, Mandibular prognathia, Microcephaly, Micropenis, Midface retrusion, Muscular hypotonia, Mutism, Obesity, Obsessive-compulsive behavior, Protruding tongue, Recurrent respiratory infections, Short nose, Single transverse palmar crease, Sleep disturbance, Specific learning disability, Sporadic, Status epilepticus, Stereotypy, Synophrys, U-Shaped upper lip vermilion, Upslanted palpebral fissure
IPC-div2	UBE2E3	0.342563892	0.009026677	Ubiquitin proteasome system protein	BrainSpLMD|10477	OMIM|604151
IPC-div2	RNASEH2C	0.785133215	0.009241373	Unclassified	BrainSpLMD|84153	OMIM|610330;HPO|84153|Arrhinencephaly, Autosomal recessive inheritance, CSF lymphocytic pleiocytosis, Cerebral calcification, Cleft eyelid, Death in childhood, Delayed myelination, Dystonia, Elevated hepatic transaminases, Encephalopathy, Generalized hypotonia, Hemiplegia/hemiparesis, Hepatosplenomegaly, Hyperreflexia, Hypoplasia of the corpus callosum, Intellectual disability, profound, Nystagmus, Porencephalic cyst, Progressive, Progressive microcephaly, Severe global developmental delay, Spasticity, Thrombocytopenia
IPC-div2	TALDO1	0.513557218	0.009297133	Enzyme: Transaldolase	BrainSpLMD|6888	OMIM|602063;HPO|6888|Abnormal facial shape, Abnormality of glutamine metabolism, Abnormality of the clitoris, Abnormality of the kidney, Anemia, Asthma, Autosomal recessive inheritance, Cirrhosis, Clitoral hypertrophy, Coarctation of aorta, Decreased liver function, Deep philtrum, Depressed nasal bridge, Failure to thrive, Hepatic fibrosis, Hepatomegaly, Hepatosplenomegaly, Hydrops fetalis, Increased serum bile acid concentration, Intrauterine growth retardation, Low-set ears, Micronodular cirrhosis, Oligohydramnios, Pancytopenia, Patent ductus arteriosus, Patent foramen ovale, Poor suck, Premature skin wrinkling, Short philtrum, Small for gestational age, Splenomegaly, Synophrys, Telangiectasia, Thin vermilion border, Thrombocytopenia, Triangular face, Ventricular septal defect, Wide anterior fontanel, Wide mouth
IPC-div2	MIS12	0.342603967	0.009478421	Cell cycle control protein	BrainSpLMD|79003	OMIM|609178
IPC-div2	NUMA1	0.276352905	0.009503842	Structural protein	BrainSpLMD|4926;Eurexp|euxassay_010729|olfactory lobe, ventricular layer	OMIM|164009;COSMIC||APL;HPO|4926|Abnormality of cells of the granulocytic lineage, Acute promyelocytic leukemia, Somatic mutation
IPC-div2	SUCO	0.793881675	0.009578278	Integral membrane protein	BrainSpLMD|51430	
IPC-div2	HIRIP3	0.810368797	0.009701852	Unclassified	BrainSpLMD|8479	OMIM|603365
IPC-div2	KCTD3	0.328584906	0.009734723	Ion channel	BrainSpLMD|51133	OMIM|613272
IPC-div2	PKD2	0.502407017	0.009761004	Membrane transport protein	BrainSpLMD|5311	OMIM|173910;HPO|5311|Autosomal dominant inheritance, Elevated serum creatinine, Incomplete penetrance, Polycystic kidney dysplasia, Progressive, Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease
IPC-div2	KDM1A	0.479625078	0.009860136	Enzyme: Deacetylase;Transcription regulatory protein	BrainSpLMD|23028	OMIM|609132;HPO|23028|Abnormal vertebral morphology, Autosomal dominant inheritance, Frontal bossing, Generalized hypotonia, Highly arched eyebrow, Lower limb hypertonia, Motor delay, Short thumb, Tapered finger
IPC-div2	COMMD2	0.255032183	0.009889941	Unclassified	BrainSpLMD|51122	OMIM|616699
IPC-div2	C6orf203	0.32504249	0.009976922	Unclassified	BrainSpLMD|51250	
IPC-nEN3	EOMES	3.118383481	0	Transcription factor	BrainSpLMD|8320;BrainSpMouseDev|13591	OMIM|604615
IPC-nEN3	NEUROD4	2.72067848	1.11E-16	Transcription factor	BrainSpLMD|58158;Eurexp|euxassay_019457|intermediate grey horn, lung, neural retina, pineal primordium, pituitary, ventricular layer;BrainSpMouseDev|11709	OMIM|611635
IPC-nEN3	NEUROG1	2.344933436	1.78E-15	Transcription regulatory protein	BrainSpLMD|4762;Eurexp|euxassay_006581|olfactory, roof plate, ventricular layer;BrainSpMouseDev|17781	OMIM|601726
IPC-nEN3	PRDX1	1.398355349	8.77E-15	Enzyme: Peroxidase	BrainSpLMD|5052	OMIM|176763
IPC-nEN3	SSTR2	1.773558256	4.69E-14	G protein coupled receptor	BrainSpLMD|6752;BrainSpMouseDev|20368	OMIM|182452
IPC-nEN3	TFAP2C	1.54758929	9.60E-14	Transcription factor	BrainSpLMD|7022;BrainSpMouseDev|21181	OMIM|601602
IPC-nEN3	PAX6	1.032778732	9.89E-14	Transcription factor	BrainSpLMD|5080;BrainSpMouseDev|18274	SFARI||Autism, No category;OMIM|607108;HPO|5080|Abnormal best corrected visual acuity test, Abnormality of movement, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the vagina, Abnormality of vision, Amblyopia, Aniridia, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the macula, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Cerebellar hypoplasia, Chorioretinal coloboma, Congenital glaucoma, Congenital nystagmus, Contiguous gene syndrome, Corneal opacity, Cryptorchidism, Displacement of the external urethral meatus, EEG abnormality, Everted lower lip vermilion, Generalized hyperpigmentation, Glaucoma, Global developmental delay, Hearing abnormality, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Hypoplasia of the iris, Hypospadias, Intellectual disability, Keratitis, Mask-like facies, Microcephaly, Micrognathia, Motor delay, Muscular hypotonia, Nephroblastoma, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Optic disc hypoplasia, Optic nerve aplasia, Optic nerve coloboma, Optic nerve hypoplasia, Peripheral vitreous opacities, Peters anomaly, Postural tremor, Presenile cataracts, Pseudopapilledema, Ptosis, Reduced visual acuity, Retinal detachment, Scanning speech, Short stature, Slurred speech, Somatic mutation, Strabismus, Streak ovary, Visual impairment, Visual loss
IPC-nEN3	TMEM158	1.659596458	7.03E-13	Unclassified	BrainSpLMD|25907	
IPC-nEN3	HNRNPA1	0.808562436	7.84E-13	RNA binding protein	BrainSpLMD|3178	OMIM|164017;HPO|3178|Abnormality of the abdominal musculature, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dyspnea, Elevated alkaline phosphatase, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Limb-girdle muscular dystrophy, Mildly elevated creatine phosphokinase, Muscle cramps, Muscle fiber inclusion bodies, Muscular dystrophy, Myopathy, Neurodegeneration, Pain, Paralysis, Proximal muscle weakness, Respiratory failure, Rimmed vacuoles, Skeletal muscle atrophy, Spasticity, Xerostomia
IPC-nEN3	NHLH1	2.611646127	2.98E-12	Transcription factor	BrainSpLMD|4807;Eurexp|euxassay_003709|dorsal root ganglion, glossopharyngeal IX, marginal layer, meninges, neural retina, olfactory, stroma, trigeminal V, ventricular layer;BrainSpMouseDev|17838	OMIM|162360
IPC-nEN3	HES6	1.680973156	6.76E-12	Transcription regulatory protein	BrainSpLMD|55502;Eurexp|euxassay_018314|head mesenchyme, marginal layer, mesenchyme, molar, neural retina, olfactory, respiratory, retina, skeletal muscle, thymus primordium, trachea, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|35214	OMIM|610331
IPC-nEN3	PPP1R17	2.506350127	9.13E-12	Unclassified	BrainSpLMD|10842;Eurexp|euxassay_003055|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, stroma, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|604088
IPC-nEN3	ZEB1	1.247864229	1.20E-11	Transcription factor	BrainSpLMD|6935;Eurexp|euxassay_015398|central nervous system, meninges, vertebral axis muscle system;BrainSpMouseDev|21178	OMIM|189909;COSMIC||CCRCC, melanoma;HPO|6935|Autosomal dominant inheritance, Corneal dystrophy, Corneal guttata
IPC-nEN3	HNRNPA1P48	0.906180593	9.72E-11			
IPC-nEN3	KIF26B	2.066179772	1.02E-10	Unclassified	BrainSpLMD|55083;Eurexp|euxassay_016415|dorsal root ganglion, extrinsic ocular muscle, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, metanephros, nasal septum, penis, trigeminal V, ventral grey horn	OMIM|614026
IPC-nEN3	IGFBPL1	2.469617147	1.17E-10	Unclassified		OMIM|610413
IPC-nEN3	CRHR2	3.126597785	4.72E-10	G protein coupled receptor	BrainSpLMD|1395;BrainSpMouseDev|12705	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602034
IPC-nEN3	CTD.2270N23.1	1.339357529	5.12E-10			
IPC-nEN3	MFNG	3.011853896	7.21E-10	Enzyme: Glucosaminyltransferase	BrainSpLMD|4242;Eurexp|euxassay_018043|bladder, hindgut, lung, metanephros, midgut, neural retina, oesophagus, olfactory, pituitary, stomach, thymus primordium, ventricular layer, vomeronasal organ	OMIM|602577
IPC-nEN3	MT.RNR2	0.557196083	1.14E-09			
IPC-nEN3	ELAVL4	0.998103689	1.26E-09	RNA binding protein	BrainSpLMD|1996	OMIM|168360
IPC-nEN3	MT.CO2	0.343470701	4.22E-09			
IPC-nEN3	MARCKS	0.406705174	8.66E-09	Cytoskeletal protein	BrainSpLMD|4082	OMIM|177061
IPC-nEN3	INSM1	1.680635565	1.11E-08	Transcription factor	BrainSpLMD|3642;Eurexp|euxassay_019598|adrenal gland, mantle layer, marginal layer, neural retina, olfactory, pancreas, ventricular layer, vomeronasal organ;BrainSpMouseDev|32944	OMIM|600010
IPC-nEN3	DLL1	1.307882364	1.26E-08	Calcium binding protein	BrainSpLMD|28514;Eurexp|euxassay_014876|anterior, calyces, diaphragm, extrinsic, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, intrinsic, marginal layer, midgut, olfactory, olfactory lobe, paraxial mesenchyme, rectum, rest of mesenchyme, retina, stomach, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|13167	OMIM|606582
IPC-nEN3	MYO10	1.250393958	1.35E-08	Motor protein	BrainSpLMD|4651;Eurexp|euxassay_009373|mantle layer, marginal layer, thymus primordium, trigeminal V, ventricular layer	OMIM|601481
IPC-nEN3	CCND2	0.962122769	1.87E-08	Cell cycle control protein	BrainSpLMD|894	OMIM|123833;COSMIC||NHL, CLL;HPO|894|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Congenital onset, Depressed nasal bridge, Global developmental delay, High forehead, Hydrocephalus, Hypertelorism, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Prominent forehead, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
IPC-nEN3	HNRNPA1P10	0.6404405	1.99E-08			
IPC-nEN3	RPL10	0.504286351	2.89E-08	Ribosomal subunit	BrainSpLMD|6134;Eurexp|euxassay_015677|embryo	SFARI||Autism, 4 - Minimal evidence;OMIM|312173;COSMIC||T-ALL;HPO|6134|Abnormal facial shape, Ankle contracture, Branchial cyst, Camptodactyly, Cryptorchidism, Dental crowding, Finger syndactyly, Gastroesophageal reflux, Hypospadias, Knee flexion contracture, Laryngomalacia, Mandibular prognathia, Microcephaly, Muscular hypotonia, Protruding ear, Pulmonary artery stenosis, Recurrent infections, Sacral lipoma, Seizures, Self-injurious behavior, Sensorineural hearing impairment, Severe postnatal growth retardation, Single transverse palmar crease, Tapered finger, Thin upper lip vermilion
IPC-nEN3	CORO1C	1.059469092	4.34E-08	Cytoskeletal associated protein	BrainSpLMD|23603	OMIM|605269
IPC-nEN3	HEG1	2.074315737	4.82E-08	Calcium binding protein	BrainSpLMD|57493;Eurexp|euxassay_005510|ventricular layer	OMIM|614182
IPC-nEN3	MFAP2	1.487001788	5.55E-08	Extracellular matrix protein	BrainSpLMD|4237;Eurexp|euxassay_002967|skeleton	OMIM|156790
IPC-nEN3	ZFHX4	0.779813052	5.65E-08	Transcription factor	BrainSpLMD|79776;Eurexp|euxassay_005820|epidermis, mantle layer, nasal septum, urethra;BrainSpMouseDev|56662	OMIM|606940;HPO|79776|Autosomal dominant inheritance, Congenital ptosis
IPC-nEN3	EZR	0.720844542	8.14E-08	Anchor protein	BrainSpLMD|7430;Eurexp|euxassay_018306|axial skeleton, calyces, choroid plexus, cochlea, dorsal root ganglion, epidermis, epithelium, fundus region, hindgut, incisor, larynx, lens, lobe, lung, marginal layer, midgut, molar, oesophagus, oral epithelium, pelvis, penis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, rib, saccule, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricle, ventricular layer, vibrissa	OMIM|123900;COSMIC||NSCLC
IPC-nEN3	SCRN1	1.253515912	1.09E-07	Protease	BrainSpLMD|9805;Eurexp|euxassay_012592|cervical, cervico-thoracic, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, penis, thoracic, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII	OMIM|614965
IPC-nEN3	MT.ND4	0.32683075	1.21E-07			
IPC-nEN3	MT.CO3	0.316661695	1.25E-07			
IPC-nEN3	PGRMC2	0.589169471	1.45E-07	Integral membrane protein	BrainSpLMD|10424;Eurexp|euxassay_007705|facial VII, mantle layer, pharyngo-tympanic tube, submandibular gland primordium, trigeminal V, vagus X;BrainSpMouseDev|46645	OMIM|607735
IPC-nEN3	CSNK1A1	0.266082735	1.61E-07	Serine/threonine kinase	BrainSpLMD|1452;BrainSpMouseDev|60339	OMIM|600505
IPC-nEN3	C1orf61	0.372938212	1.91E-07	Transcription regulatory protein	BrainSpLMD|10485	
IPC-nEN3	MDK	1.142934015	2.39E-07	Cytokine	BrainSpLMD|4192;Eurexp|euxassay_000525|anal region, gut, head mesenchyme, lung, mesenchyme, metanephros, penis, physiological umbilical hernia, spleen primordium, trunk mesenchyme, ventricular layer	OMIM|162096
IPC-nEN3	SEZ6L	1.570919384	2.84E-07	Integral membrane protein	BrainSpLMD|23544;Eurexp|euxassay_009459|brain, neural retina, spinal cord	OMIM|607021
IPC-nEN3	NNAT	1.132712545	3.47E-07	Regulatory/other subunit	BrainSpLMD|4826;Eurexp|euxassay_007364|brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, mesenchyme, mesothelium, midgut, neural retina, oesophagus, olfactory, paraxial mesenchyme, pericardial cavity, peritoneal cavity, right lung, skeletal muscle, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|17878	OMIM|603106
IPC-nEN3	RPSA	0.556016266	8.65E-07	Cell surface receptor;Ribosomal subunit	BrainSpLMD|3921	OMIM|150370;HPO|3921|Abnormality of abdomen morphology, Abnormality of metabolism/homeostasis, Asplenia, Autosomal dominant inheritance, Autosomal recessive inheritance, Infantile onset
IPC-nEN3	SNCAIP	1.624105033	8.72E-07	Unclassified	BrainSpLMD|9627	OMIM|603779;HPO|9627|Bradykinesia, Constipation, Dementia, Depressivity, Dysarthria, Dysphagia, Dystonia, Insidious onset, Lewy bodies, Mask-like facies, Neuronal loss in central nervous system, Parkinsonism, Personality changes, Postural instability, Progressive, Resting tremor, Rigidity, Short stepped shuffling gait, Sleep disturbance, Sporadic, Substantia nigra gliosis, Urinary urgency, Weak voice
IPC-nEN3	ELAVL2	0.620647781	9.50E-07	RNA binding protein	BrainSpLMD|1993;Eurexp|euxassay_005246|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, oesophagus, olfactory, pharynx, respiratory, retina, spinal cord, stomach, testis, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|601673
IPC-nEN3	TMX1	1.017092162	9.92E-07	Enzyme: Oxidoreductase	BrainSpLMD|81542	OMIM|610527
IPC-nEN3	BTG2	1.40751239	1.04E-06	Cell cycle control protein	BrainSpLMD|7832;Eurexp|euxassay_000263|alar plate, diencephalon, epithelium, hindbrain, liver, lung, metencephalon, midbrain, neural retina, oesophagus, oral epithelium, spinal cord, stomach, telencephalon, ventricular layer	OMIM|601597
IPC-nEN3	MT.CO1	0.605553758	1.13E-06			
IPC-nEN3	GPR56	0.998017489	1.30E-06			
IPC-nEN3	SMOC1	2.775555845	1.53E-06	Extracellular matrix protein;Calcium binding protein	BrainSpLMD|64093;Eurexp|euxassay_003378|aorta, axial muscle, axial skeleton, cochlea, dorsal grey horn, hyoid bone, mantle layer, marginal layer, medulla, medullary region, meninges, mesenchyme, metatarsus, naris, nasal septum, pancreas, phalanx, saccule, thyroid, turbinate bones, ventral grey horn, ventricle, ventricular layer	OMIM|608488;HPO|64093|Abnormal form of the vertebral bodies, Abnormality of the cardiovascular system, Abnormality of the eyebrow, Abnormality of the hair, Abnormality of the metacarpal bones, Anophthalmia, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Blepharophimosis, Camptodactyly of 2nd-5th fingers, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Deep philtrum, Depressed nasal bridge, Downslanted palpebral fissures, Failure to thrive, Fibular hypoplasia, Finger syndactyly, Flared nostrils, Foot oligodactyly, Frontal bossing, Fused fourth and fifth metacarpals, Hand oligodactyly, High palate, Hip dislocation, Hypoplasia of the maxilla, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Large earlobe, Low-set ears, Low-set, posteriorly rotated ears, Microphthalmia, Optic atrophy, Postaxial foot polydactyly, Postaxial hand polydactyly, Posteriorly rotated ears, Postnatal growth retardation, Prominent forehead, Retrognathia, Sandal gap, Short nose, Short palpebral fissure, Short stature, Short tibia, Single transverse palmar crease, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Tibial bowing, Toe syndactyly, True anophthalmia
IPC-nEN3	MT.ATP6	0.296195177	1.62E-06			
IPC-nEN3	RPL3P7	0.677022443	1.70E-06			
IPC-nEN3	LRP8	0.664703004	1.78E-06	Cell surface receptor	BrainSpLMD|7804;BrainSpMouseDev|16745	OMIM|602600
IPC-nEN3	LHX2	0.94226199	1.97E-06	Transcription regulatory protein	BrainSpLMD|9355;BrainSpMouseDev|16641	OMIM|603759
IPC-nEN3	HNRNPC	0.681411832	2.47E-06	RNA binding protein		OMIM|164020
IPC-nEN3	TTYH2	1.194425031	3.11E-06	Unclassified	BrainSpLMD|94015;Eurexp|euxassay_010129|brain, meninges, mesenchyme, spinal cord, ventricular layer	OMIM|608855
IPC-nEN3	HNRNPA1P7	0.465958723	3.13E-06			
IPC-nEN3	AC120042.1	1.590610269	3.15E-06			
IPC-nEN3	MLC1	1.594260554	3.93E-06	Membrane transport protein	BrainSpLMD|23209;Eurexp|euxassay_010374|ventricular layer	OMIM|605908;HPO|23209|Ataxia, Autosomal recessive inheritance, Diffuse spongiform leukoencephalopathy, Diffuse swelling of cerebral white matter, Infantile onset, Intellectual disability, mild, Macrocephaly, Megalencephaly, Motor delay, Seizures, Spasticity
IPC-nEN3	CDON	1.577472595	5.45E-06	Cell surface receptor	BrainSpLMD|50937;BrainSpMouseDev|37081	OMIM|608707;HPO|50937|Agenesis of corpus callosum, Autosomal dominant inheritance, Cleft lip, Cleft palate, Delayed puberty, Ectopic posterior pituitary, Failure to thrive, Global developmental delay, Holoprosencephaly, Hypoglycemia, Hypoplasia of penis, Hypotelorism, Hypothyroidism, Microcephaly, Polysplenia, Proptosis, Short stature, Sporadic, Synophrys, Thick eyebrow, Variable expressivity
IPC-nEN3	RPL13AP5	0.656827241	5.70E-06			
IPC-nEN3	BAZ1A	0.975158336	5.72E-06	DNA binding protein	BrainSpLMD|11177	OMIM|605680
IPC-nEN3	RPS19	0.696090387	5.88E-06	Ribosomal subunit	BrainSpLMD|6223	OMIM|603474;HPO|6223|11 pairs of ribs, Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Absent thumb, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Bifid thoracic vertebrae, Cleft palate, Cleft upper lip, Coarctation of aorta, Colon cancer, Congenital hypoplastic anemia, Congestive heart failure, Delayed cranial suture closure, Delayed puberty, Depressed nasal ridge, Downslanted palpebral fissures, Elevated red cell adenosine deaminase activity, Failure to thrive, Fatigue, High palate, Hypertelorism, Hypoplasia of the radius, Hypoplastic coccygeal vertebrae, Hypoplastic ilia, Hypoplastic sacral vertebrae, Infantile onset, Intrauterine growth retardation, Macrocytic anemia, Microcephaly, Micrognathia, Migraine, Myelodysplasia, Narrow chest, Neutropenia, Osteosarcoma, Pallor, Parietal foramina, Partial duplication of thumb phalanx, Premature birth, Reticulocytopenia, Retrognathia, Short neck, Short stature, Short thumb, Strabismus, Thrombocytopenia, Thrombocytosis, Triphalangeal thumb, Ventricular septal defect, Webbed neck
IPC-nEN3	RPL7AP6	1.403316434	8.27E-06			
IPC-nEN3	MAP6	1.179382315	8.36E-06	Cytoskeletal associated protein	BrainSpLMD|4135;Eurexp|euxassay_000634|cochlear component, dorsal root ganglion, facial VII, inferior, neural retina, olfactory, superior, trigeminal V, vestibular component	OMIM|601783
IPC-nEN3	RPL13A	0.783311034	8.85E-06	Ribosomal subunit		
IPC-nEN3	RP11.572P18.1	0.256686467	9.93E-06			
IPC-nEN3	MYCL	2.45210451	9.99E-06	Unclassified;Transcription factor	BrainSpLMD|4610;Eurexp|euxassay_019480|bladder, intermediate grey horn, larynx, lung, mantle layer, marginal layer, metatarsus, oesophagus, olfactory, oral epithelium, phalanx, pharyngo-tympanic tube, stomach, urethra, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|16688	OMIM|164850;COSMIC||small cell lung carcinoma
IPC-nEN3	ZIC2	0.412089894	1.04E-05	Transcription regulatory protein	BrainSpLMD|7546;BrainSpMouseDev|22529	OMIM|603073;HPO|7546|Abnormal facial shape, Autosomal dominant inheritance, Global developmental delay, Holoprosencephaly, Hydrocephalus, Intellectual disability, Microcephaly, Synophrys, Trigonocephaly
IPC-nEN3	FAM60A	1.258319969	1.19E-05			
IPC-nEN3	SLC22A23	0.832526655	1.24E-05	Integral membrane protein	BrainSpLMD|63027	OMIM|611697
IPC-nEN3	EMX2	0.633523961	1.28E-05	Transcription factor	BrainSpLMD|2018;Eurexp|euxassay_019479|eyelid, lip, mantle layer, metanephros, olfactory, paramesonephric duct, phalanx, saccule, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|13575	OMIM|600035;HPO|2018|Schizencephaly
IPC-nEN3	FOXP2	0.816734032	1.30E-05	Transcription factor	BrainSpLMD|93986;Eurexp|euxassay_010964|axial skeleton, basal columns, bladder, cochlea, cortex, cranium, ear, extrinsic ocular muscle, femur, floor plate, floorplate, footplate, handplate, hindgut, humerus, lateral wall, leg, lung, mandible, mantle layer, meninges, mesenchyme, metatarsus, midgut, oesophagus, olfactory lobe, orbito-sphenoid, palatal shelf, pelvic girdle, phalanx, rectum, rest of mesenchyme, rib, skeleton, stomach, thyroid, tongue, trachea, turbinate bones, urethra, valve, ventral grey horn;BrainSpMouseDev|76994	SFARI||Autism, 3 - Suggestive evidence;OMIM|605317;HPO|93986|Abnormality of the basal ganglia, Abnormality of the face, Autosomal dominant inheritance, Delayed speech and language development, Incomprehensible speech, Oromotor apraxia
IPC-nEN3	GSTP1	1.180113322	1.36E-05	Enzyme: Glutathione transferase	BrainSpLMD|2950;Eurexp|euxassay_006221|lobe	OMIM|134660
IPC-nEN3	NFIA	0.823308193	1.45E-05	Transcription factor	BrainSpLMD|4774;BrainSpMouseDev|17794	SFARI||Autism, 4 - Minimal evidence;OMIM|600727;HPO|4774|Agenesis of corpus callosum, Anteverted nares, Arnold-Chiari type I malformation, Broad face, Broad forehead, Cognitive impairment, Cutis marmorata, Generalized hypotonia, Global developmental delay, Hydronephrosis, Hypoplasia of the corpus callosum, Inguinal hernia, Intellectual disability, Low-set ears, Macrocephaly, Narrow mouth, Phenotypic variability, Renal hypoplasia, Seizures, Short chin, Short nose, Sporadic, Syringomyelia, Thin upper lip vermilion, Ventriculomegaly, Vesicoureteral reflux
IPC-nEN3	AC017053.1	1.677611215	1.46E-05			
IPC-nEN3	DAAM1	0.332523885	1.59E-05	Unclassified	BrainSpLMD|23002;BrainSpMouseDev|84026	OMIM|606626
IPC-nEN3	INHBB	1.702417254	1.62E-05	Ligand	BrainSpLMD|3625;BrainSpMouseDev|16097	OMIM|147390
IPC-nEN3	TMEM98	0.728168017	1.63E-05	Integral membrane protein	BrainSpLMD|26022	OMIM|615949;HPO|26022|Abnormality of the choroid, Autosomal dominant inheritance, Glaucoma, High-grade hypermetropia, Microphthalmia, Strabismus
IPC-nEN3	CDHR1	2.784853148	1.63E-05	Adhesion molecule	BrainSpLMD|92211;Eurexp|euxassay_009099|cortex, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, mantle layer, marginal layer, medullary tubules, naris, olfactory, pancreas, sublingual gland primordium, submandibular gland primordium, thymus primordium, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ;BrainSpMouseDev|81990	OMIM|609502;HPO|92211|Abnormal electroretinogram, Abnormality of color vision, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Cone/cone-rod dystrophy, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Progressive visual loss, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
IPC-nEN3	MT.ND5	0.424573788	1.82E-05			
IPC-nEN3	RPL13	0.809151641	1.98E-05	Ribonucleoprotein	BrainSpLMD|6137	OMIM|113703
IPC-nEN3	IVNS1ABP	1.165216856	2.05E-05	Unclassified	BrainSpLMD|10625;Eurexp|euxassay_011634|axial muscle, axial skeleton, cervical, cervico-thoracic, clavicle, cochlea, corpus striatum, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lateral ventricle, lip, lung, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, molar, neural retina, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, pituitary, renal/urinary system, saccule, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trachea, trigeminal V, ventricle, ventricular layer, vibrissa	OMIM|609209
IPC-nEN3	CTB.63M22.1	0.569643111	2.10E-05			
IPC-nEN3	ENC1	0.782258271	2.11E-05	Structural protein	BrainSpLMD|8507;BrainSpMouseDev|13581	OMIM|605173
IPC-nEN3	RPL12	0.832665666	2.35E-05	Ribosomal subunit		OMIM|180475
IPC-nEN3	EEF1A1P5	0.33408068	2.41E-05			
IPC-nEN3	DNM2	3.186965028	2.52E-05	GTPase	BrainSpLMD|1785	OMIM|602378;COSMIC||T-ALL, Charcot-Marie-Tooth disease, centronuclear myopathy, lethal congenital contracture syndrome 5;HPO|1785|Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Axonal degeneration, Centrally nucleated skeletal muscle fibers, Congenital contracture, Congenital onset, Death in infancy, Decreased fetal movement, Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Easy fatigability, Elevated serum creatine phosphokinase, External ophthalmoplegia, Facial palsy, Flexion contracture, Generalized hypotonia, Heterogeneous, Hyporeflexia, Juvenile onset, Motor delay, Onion bulb formation, Pes cavus, Polyhydramnios, Proximal muscle weakness, Ptosis, Respiratory insufficiency, Retinal hemorrhage, Segmental peripheral demyelination/remyelination, Sleepy facial expression, Slow progression, Small for gestational age, Thin ribs
IPC-nEN3	CCDC88C	0.524537303	2.67E-05	Protease inhibitor	BrainSpLMD|440193;Eurexp|euxassay_016252|clavicle, femur, humerus, mandible, mantle layer, maxilla, orbito-sphenoid, rib, ventral grey horn	SFARI||Autism, 4 - Minimal evidence;OMIM|611204;HPO|440193|Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Broad-based gait, Congenital onset, Dysarthria, Dysdiadochokinesis, Hydrocephalus, Hyperreflexia, Intellectual disability, Intention tremor, Pontocerebellar atrophy, Seizures, Slow progression, Spastic paraparesis, Unsteady gait, Ventriculomegaly
IPC-nEN3	LINC00478	1.506730074	2.67E-05			
IPC-nEN3	RFTN2	0.855599179	2.74E-05	Unclassified	BrainSpLMD|130132	
IPC-nEN3	DUSP10	1.01588448	2.91E-05	Enzyme: Phosphatase;Enzyme: Phosphohydrolase	BrainSpLMD|11221	OMIM|608867
IPC-nEN3	SCHIP1	1.050066271	3.23E-05	Unclassified	BrainSpLMD|29970;Eurexp|euxassay_012101|aorta, bladder, brain, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, mantle layer, mesenchyme, metanephros, midgut, molar, neural retina, oesophagus, olfactory, pancreas, primitive seminiferous tubules, spinal cord, stomach, submandibular gland primordium, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vomeronasal organ	
IPC-nEN3	BTF3	0.724033111	3.31E-05	Transcription factor	BrainSpLMD|689;Eurexp|euxassay_019495|clavicle, hindgut, incisor, liver, lung, metanephros, midgut, molar, oesophagus, pancreas, pharyngo-tympanic tube, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa;BrainSpMouseDev|85373	OMIM|602542
IPC-nEN3	CTD.2544H17.1	1.282007681	3.50E-05			
IPC-nEN3	RPS27L	0.907635481	3.56E-05	Unclassified	BrainSpLMD|51065;Eurexp|euxassay_013950|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, pancreas, primitive seminiferous tubules, rest of mesenchyme, right lung, skeletal muscle, submandibular gland primordium, thymus primordium, tongue, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|612055
IPC-nEN3	GPR98	0.517051226	3.82E-05			
IPC-nEN3	RP11.436K8.1	0.941305946	4.01E-05			
IPC-nEN3	MDM2	0.4423804	4.07E-05	Ubiquitin proteasome system protein	BrainSpLMD|4193;Eurexp|euxassay_006190|embryo	OMIM|164785;COSMIC||sarcoma, glioma, colorectal, other tumour types;HPO|4193|Breast carcinoma, Lymphoma, Neoplasm of the adrenal cortex, Neoplasm of the colon, Neoplasm of the nervous system, Neoplasm of the pancreas, Neoplasm of the skin, Osteosarcoma, Progressive encephalopathy, Subcutaneous nodule
IPC-nEN3	BAZ2B	0.478748792	4.34E-05	Transcription regulatory protein	BrainSpLMD|29994;Eurexp|euxassay_011654|olfactory, vomeronasal organ	OMIM|605683
IPC-nEN3	GON4L	0.651413978	4.54E-05	DNA binding protein	BrainSpLMD|54856	OMIM|610393
IPC-nEN3	SIPA1L2	0.479019702	4.62E-05	GTPase activating protein	BrainSpLMD|57568;Eurexp|euxassay_006320|mantle layer, marginal layer, thymus primordium, ventricular layer;BrainSpMouseDev|89268	OMIM|611609
IPC-nEN3	RPS8	0.372133752	4.89E-05	Ribosomal subunit		OMIM|600357
IPC-nEN3	ARID1A	0.910295763	4.96E-05	RNA binding protein	BrainSpLMD|8289;Eurexp|euxassay_019588|incisor, lung, metanephros, molar, olfactory, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, thyroid, vibrissa, vomeronasal organ	OMIM|603024;COSMIC||clear cell ovarian carcinoma, RCC, breast;HPO|8289|Abnormality of cardiovascular system morphology, Abnormality of the dentition, Abnormality of the pinna, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Autosomal dominant inheritance, Brachydactyly, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Feeding difficulties in infancy, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hearing impairment, Hypertrichosis, Hypoplastic fifth fingernail, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Low anterior hairline, Macroglossia, Microcephaly, Muscular hypotonia, Nystagmus, Recurrent respiratory infections, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Slow-growing hair, Small nail, Strabismus, Thick eyebrow, Thick lower lip vermilion, Visual impairment, Wide mouth, Wide nasal bridge, Wide nose
IPC-nEN3	AKNA	1.680184319	5.85E-05	Transcription factor	BrainSpLMD|80709;Eurexp|euxassay_019530|marginal layer, neural retina, olfactory, thymus primordium, ventricular layer, vomeronasal organ;BrainSpMouseDev|64352	OMIM|605729
IPC-nEN3	RP11.36C20.1	0.451454856	5.92E-05			
IPC-nEN3	FOXN2	1.250391763	6.28E-05	DNA binding protein	BrainSpLMD|3344;Eurexp|euxassay_019499|incisor, liver, lung, mandible, mantle layer, marginal layer, maxilla, molar, submandibular gland primordium, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|14013	OMIM|143089
IPC-nEN3	LAPTM4A	0.55052585	6.40E-05	Membrane transport protein	BrainSpLMD|9741	
IPC-nEN3	BCCIP	0.724534959	6.73E-05	Cell cycle control protein	BrainSpLMD|56647;Eurexp|euxassay_006212|axial muscle, cortex, orbito-sphenoid, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|611883
IPC-nEN3	ACLY	0.988032578	7.00E-05	ATPase	BrainSpLMD|47;Eurexp|euxassay_018561|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, medulla, molar, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|108728
IPC-nEN3	SEC11B	0.476170185	7.07E-05			
IPC-nEN3	PLCB4	0.744677305	7.79E-05	GTPase activating protein;Enzyme: Phospholipase	BrainSpLMD|5332;BrainSpMouseDev|18562	OMIM|600810;HPO|5332|Apnea, Autosomal dominant inheritance, Autosomal recessive inheritance, Cleft at the superior portion of the pinna, Cleft palate, Dental crowding, Dental malocclusion, Hypoplastic superior helix, Low-set ears, Mandibular condyle aplasia, Mandibular condyle hypoplasia, Overfolding of the superior helices, Posteriorly rotated ears, Round face, Snoring, Speech articulation difficulties
IPC-nEN3	RGS16	1.049386853	8.03E-05	GTPase activating protein	BrainSpLMD|6004;Eurexp|euxassay_006229|diaphragm, dorsal grey horn, lip, mantle layer, marginal layer, mesenchyme, neural retina, skeletal muscle, ventricular layer, vertebral axis muscle system	OMIM|602514
IPC-nEN3	MEGF10	1.127982833	8.10E-05	Structural protein	BrainSpLMD|84466	SFARI||Autism, 4 - Minimal evidence;OMIM|612453;HPO|84466|Areflexia, Autosomal recessive inheritance, Camptodactyly of finger, Cleft palate, Congenital onset, Decreased fetal movement, Diaphragmatic paralysis, Difficulty running, Dysphagia, Facial palsy, Failure to thrive, High palate, Hyporeflexia, Motor delay, Nasal speech, Neonatal hypotonia, Pectus excavatum, Poor head control, Respiratory distress, Respiratory failure, Restrictive ventilatory defect, Scoliosis, Talipes equinovarus, Variable expressivity
IPC-nEN3	RPL8	0.670214616	8.43E-05	Ribosomal subunit	BrainSpLMD|6132;Eurexp|euxassay_006230|left, right	OMIM|604177
IPC-nEN3	NKAIN3	1.627851135	9.29E-05	Unclassified	BrainSpLMD|286183	OMIM|612872
IPC-nEN3	RBPJ	0.499395432	9.50E-05	Transcription factor;Transcription regulatory protein	BrainSpLMD|3516;BrainSpMouseDev|19427	OMIM|147183;HPO|3516|2-3 toe syndactyly, Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aplasia cutis congenita, Autosomal dominant inheritance, Brachydactyly, Calvarial skull defect, Cataract, Cutis marmorata, Failure to thrive, Finger syndactyly, Hydrocephalus, Microcephaly, Microphthalmia, Pulmonary artery atresia, Short distal phalanx of finger, Short metatarsal, Sparse hair, Split hand, Strabismus, Talipes, Tetralogy of Fallot
IPC-nEN3	SYNE2	0.652779433	9.75E-05	Cytoskeletal protein	BrainSpLMD|23224;Eurexp|euxassay_010927|cochlea, metanephros, pericardial cavity, peritoneal cavity, renal/urinary system, utricle, ventricular layer	OMIM|608442;HPO|23224|Arrhythmia, Autosomal dominant inheritance, Cardiomyopathy, Childhood onset, Elevated serum creatine phosphokinase, Muscular dystrophy, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Respiratory insufficiency
IPC-nEN3	TEAD2	1.385025199	0.000100544	Transcription factor	BrainSpLMD|8463;Eurexp|euxassay_004972|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, olfactory lobe, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|21438	OMIM|601729
IPC-nEN3	LDHB	0.581751213	0.00010587	Enzyme: Dehydrogenase	BrainSpLMD|3945	OMIM|150100
IPC-nEN3	RPS6	0.465064396	0.000109348	Ribosomal subunit	BrainSpLMD|6194	OMIM|180460
IPC-nEN3	CRHR1.IT1	1.342391586	0.000111554			
IPC-nEN3	POU2F1	1.125441036	0.000115584	Transcription factor	BrainSpLMD|5451;BrainSpMouseDev|18749	OMIM|164175
IPC-nEN3	LINC01158	0.861651128	0.00011685			
IPC-nEN3	TP53	1.008688122	0.000118553	Transcription factor	BrainSpLMD|7157;Eurexp|euxassay_017977|submandibular gland primordium, thymus primordium;BrainSpMouseDev|21816	OMIM|191170;COSMIC||breast, colorectal, lung, sarcoma, adrenocortical, glioma, Spitzoid tumour, multiple other tumour types, breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types;HPO|7157|Abnormal lactate dehydrogenase activity, Abnormal platelet morphology, Abnormality of metabolism/homeostasis, Abnormality of the fallopian tube, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphysis, Acute leukemia, Adrenocortical carcinoma, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast carcinoma, Chest pain, Choroid plexus papilloma, Colon cancer, Elevated alkaline phosphatase, Headache, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hydrocephalus, Increased megakaryocyte count, Joint swelling, Lung adenocarcinoma, Lymphoma, Micronodular cirrhosis, Myocardial infarction, Nausea, Neoplasia of the nasopharynx, Neoplasm of the adrenal cortex, Neoplasm of the colon, Neoplasm of the nervous system, Neoplasm of the pancreas, Neoplasm of the skin, Neoplasm of the stomach, Nephroblastoma, Osteolysis, Osteosarcoma, Ovarian neoplasm, Pain, Papilledema, Paresthesia, Polygenic inheritance, Primary peritoneal carcinoma, Progressive encephalopathy, Prolonged bleeding time, Prostate cancer, Prostate neoplasm, Renal cell carcinoma, Retinoblastoma, Seizures, Soft tissue sarcoma, Somatic mutation, Splenomegaly, Subacute progressive viral hepatitis, Transient ischemic attack, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Venous thrombosis, Vomiting
IPC-nEN3	CD63	0.66541367	0.000123122	Integral membrane protein	BrainSpLMD|967	OMIM|155740
IPC-nEN3	GLO1	1.156090042	0.000135041	Enzyme: Lyase	BrainSpLMD|2739	SFARI||Autism, 4 - Minimal evidence;OMIM|138750
IPC-nEN3	SLC1A3	0.386889833	0.000139684	Transport/cargo protein	BrainSpLMD|6507;Eurexp|euxassay_001899|mantle layer, thymus primordium, tongue, ventral grey horn, ventricular layer;BrainSpMouseDev|20274	OMIM|600111;HPO|6507|Autosomal dominant inheritance, Cerebellar hypoplasia, Diplopia, Dysarthria, Episodic ataxia, Generalized hypotonia, Hemiparesis, Hemiplegia, Migraine, Motor delay, Nausea, Phonophobia, Photophobia, Seizures, Slurred speech, Truncal ataxia, Vertigo, Vomiting
IPC-nEN3	KIAA0247	1.048052546	0.000146525			
IPC-nEN3	KAT6A	0.349432454	0.000153451	Enzyme: Acyltransferase	BrainSpLMD|7994	SFARI||Autism, 3 - Suggestive evidence;OMIM|601408;COSMIC||AML;HPO|7994|Abnormality of the dentition, Atrial septal defect, Autosomal dominant inheritance, Broad nasal tip, Cortical visual impairment, Craniosynostosis, Downturned corners of mouth, Epicanthus, Feeding difficulties, Global developmental delay, Intellectual disability, Low-set ears, Microcephaly, Microretrognathia, Muscular hypotonia, Narrow forehead, Neonatal hypotonia, Neonatal respiratory distress, Patent ductus arteriosus, Plagiocephaly, Posteriorly rotated ears, Prominent nasal bridge, Ptosis, Respiratory distress, Strabismus, Thin upper lip vermilion, Ventricular septal defect
IPC-nEN3	COL11A1	0.298039769	0.00015425	Extracellular matrix protein	BrainSpLMD|1301;Eurexp|euxassay_004200|axial skeleton, clavicle, cranium, femur, fibula, footplate, handplate, humerus, hyoid bone, mandible, nasal septum, otic capsule, palatal shelf, pelvic girdle, radius, rib, sternum, tibia, turbinate bones, ulna;BrainSpMouseDev|12597	OMIM|120280;HPO|1301|Abnormal diaphysis morphology, Abnormal form of the vertebral bodies, Abnormality of the dentition, Abnormality of the metaphysis, Abnormality of the pinna, Abnormality of the vitreous humor, Absent frontal sinuses, Amblyopia, Anterior rib cupping, Anteverted nares, Arachnodactyly, Arthralgia, Arthropathy, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bifid uvula, Brachycephaly, Brachydactyly, Broad ischia, Broad long bones, Broad ribs, Calcification of falx cerebri, Camptodactyly, Cataract, Cerebral calcification, Cleft palate, Clinodactyly of the 5th finger, Congenital cataract, Corneal opacity, Coxa valga, Depressed nasal bridge, Downslanted palpebral fissures, Dumbbell-shaped long bone, Ectopia lentis, Epicanthus, Epiphyseal dysplasia, Esotropia, Femoral bowing, Fibular hypoplasia, Flat face, Frontal bossing, Genu valgum, Glaucoma, Glossoptosis, Hearing abnormality, Hydrops fetalis, Hypertelorism, Hypohidrosis, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hypoplastic fingernail, Hypoplastic frontal sinuses, Hypoplastic ilia, Hypoplastic ischia, Hypoplastic scapulae, Hypoplastic toenails, Hypotrichosis, Irregular distal femoral epiphysis, Irregular proximal tibial epiphyses, Irregular vertebral endplates, Joint contracture of the hand, Joint hyperflexibility, Joint hypermobility, Lens luxation, Long clavicles, Long fingers, Long philtrum, Low-set ears, Macrodontia of permanent maxillary central incisor, Malar flattening, Megalocornea, Meningeal calcification, Micrognathia, Micromelia, Midface retrusion, Myopia, Narrow chest, Narrow greater sacrosciatic notches, Narrow mouth, Omphalocele, Osteoarthritis, Patent foramen ovale, Pierre-Robin sequence, Platyspondyly, Posterior rib cupping, Posterior vertebral hypoplasia, Premature birth, Proptosis, Protuberant abdomen, Radial bowing, Respiratory insufficiency, Retinal detachment, Retinopathy, Rhizomelia, Round face, Sensorineural hearing impairment, Severe Myopia, Short femur, Short foot, Short long bone, Short neck, Short nose, Short palm, Short ribs, Short stature, Small distal femoral epiphysis, Small hand, Small proximal tibial epiphyses, Spondyloepiphyseal dysplasia, Stillbirth, Thick lower lip vermilion, Thick upper lip vermilion, Thickened calvaria, Thin clavicles, Thin ribs, Thoracic hypoplasia, Ulnar bowing, Upper airway obstruction, Visual impairment, Vitreoretinal degeneration, Wide anterior fontanel, Wide nasal bridge, Wide tufts of distal phalanges, Widely patent coronal suture, Widely patent sagittal suture
IPC-nEN3	RPL4	0.334427044	0.000171468	Ribosomal subunit	BrainSpLMD|6124	OMIM|180479
IPC-nEN3	HNRNPA1P4	0.654079819	0.000177055			
IPC-nEN3	MED10	0.825604637	0.000185709	Transcription regulatory protein	BrainSpLMD|84246	OMIM|612382
IPC-nEN3	CDC37L1	1.106830806	0.000189433	Heat shock protein	BrainSpLMD|55664	OMIM|610346
IPC-nEN3	FJX1	1.120612207	0.000204903	Unclassified	BrainSpLMD|24147	OMIM|612206
IPC-nEN3	RPL23	0.369388076	0.000221446	Ribosomal subunit	BrainSpLMD|9349	OMIM|603662
IPC-nEN3	HNRNPCP2	0.642143695	0.000234939			
IPC-nEN3	AP000473.5	0.869877869	0.000235158			
IPC-nEN3	RP3.417G15.1	0.539052653	0.000237066			
IPC-nEN3	PSMA3	0.446595755	0.000239164	Ubiquitin proteasome system protein	BrainSpLMD|5684;Eurexp|euxassay_003148|axial muscle, basal plate, chondrocranium, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, intermediate grey horn, left lung, mantle layer, marginal layer, molar, orbito-sphenoid, pancreas, right lung, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|176843
IPC-nEN3	RPL23P8	0.362851324	0.000240128			
IPC-nEN3	GOLGA4	0.383217824	0.000256979	Transport/cargo protein	BrainSpLMD|2803	OMIM|602509
IPC-nEN3	ARMCX6	1.108064638	0.000258412	Unclassified	BrainSpLMD|54470	
IPC-nEN3	RPL3	0.62437408	0.000268022	Ribosomal subunit		OMIM|604163
IPC-nEN3	RP11.436D23.1	0.943996083	0.000273061			
IPC-nEN3	RASA4	0.915546818	0.00028125	GTPase activating protein	BrainSpLMD|10156	OMIM|607943
IPC-nEN3	MED12L	0.276496869	0.000283175	Unclassified	BrainSpLMD|116931	OMIM|611318
IPC-nEN3	TCF3	0.510857577	0.000288448	Transcription factor	BrainSpLMD|6929;BrainSpMouseDev|21184	OMIM|147141;COSMIC||pre B-ALL;HPO|6929|Agammaglobulinemia, Arthritis, Autosomal dominant inheritance, B lymphocytopenia, Chronic otitis media, Conjunctivitis, Cough, Diarrhea, Failure to thrive, Fatigue, Fever, Immunodeficiency, Infantile onset, Osteomyelitis, Recurrent respiratory infections, Recurrent skin infections, Sinusitis, Skin rash
IPC-nEN3	RP11.543P15.1	0.260242362	0.000295839			
IPC-nEN3	H3F3B	0.336776367	0.000314475	DNA binding protein	BrainSpLMD|3021;Eurexp|euxassay_005704|embryo	OMIM|601058;COSMIC||chondroblastoma
IPC-nEN3	VEZF1	0.798165647	0.000317902	Transcription factor	BrainSpLMD|7716	OMIM|606747
IPC-nEN3	SCARNA22	0.581297172	0.000337803			
IPC-nEN3	ATP5I	0.314093723	0.000338378			
IPC-nEN3	AGO1	0.362114015	0.000341563	Translation regulatory protein	BrainSpLMD|26523;Eurexp|euxassay_012863|facial VII, incisor, mantle layer, marginal layer, molar, neural retina, olfactory, trigeminal V, ventricular layer	OMIM|606228
IPC-nEN3	TMSB4X	0.651356998	0.00034592	Cytoskeletal associated protein		OMIM|300159
IPC-nEN3	MT.ND6	0.521557486	0.000381525			
IPC-nEN3	TMSB4XP1	0.459060481	0.000385064	-	BrainSpLMD|7115	
IPC-nEN3	CACUL1	0.332635418	0.000389848	Unclassified	BrainSpLMD|143384	
IPC-nEN3	MLLT4	0.785312287	0.000394037			
IPC-nEN3	TGIF2	1.473100808	0.000398314	Transcription factor	BrainSpLMD|60436;Eurexp|euxassay_019508|axial skeleton, cornea, epithelium, incisor, lung, marginal layer, metanephros, molar, neural retina, oesophagus, olfactory, phalanx, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|86790	OMIM|607294
IPC-nEN3	RIOK3	0.559865964	0.000415444	Cell cycle control protein	BrainSpLMD|8780;Eurexp|euxassay_018808|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|603579
IPC-nEN3	SUMO2	0.268713538	0.000440384	Unclassified	BrainSpLMD|6613	OMIM|603042
IPC-nEN3	DLL3	1.178275556	0.000447135	Ligand	BrainSpLMD|10683;BrainSpMouseDev|13168	OMIM|602768;HPO|10683|Abnormal form of the vertebral bodies, Abnormality of immune system physiology, Abnormality of the intervertebral disk, Abnormality of the odontoid process, Autosomal recessive inheritance, Block vertebrae, Death in infancy, Disproportionate short-trunk short stature, Hemivertebrae, Intrauterine growth retardation, Kyphosis, Recurrent respiratory infections, Respiratory insufficiency, Rib fusion, Rib segmentation abnormalities, Scoliosis, Severe short stature, Short neck, Short stature, Short thorax, Vertebral segmentation defect
IPC-nEN3	CHMP1B	0.434127708	0.000453998	Transport/cargo protein	BrainSpLMD|57132	OMIM|606486
IPC-nEN3	HMGN2P5	0.836465494	0.000457066			
IPC-nEN3	CHD7	0.943523931	0.000466703	DNA binding protein	Eurexp|euxassay_010758|marginal layer, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|608892;HPO|55636|Abnormality of body height, Abnormality of female internal genitalia, Abnormality of lymphocytes, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Alopecia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bifid scrotum, Breast hypoplasia, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Desquamation of skin soon after birth, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysphagia, Edema, Eosinophilia, Erectile abnormalities, Erythroderma, Esophageal atresia, Eunuchoid habitus, External ear malformation, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Female hypogonadism, Fever, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Hepatomegaly, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphopenia, Malar flattening, Male hypogonadism, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Non-obstructive azoospermia, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Pneumonia, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Secondary amenorrhea, Sensorineural hearing impairment, Severe combined immunodeficiency, Sparse body hair, Splenomegaly, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Thickened skin, Tracheoesophageal fistula, Umbilical hernia, Ventricular septal defect, Wide intermamillary distance
IPC-nEN3	QSER1	0.881759606	0.000469708	Unclassified	BrainSpLMD|79832	
IPC-nEN3	IST1	0.44037651	0.000474564	Unclassified	BrainSpLMD|9798;Eurexp|euxassay_013623|brain, cornea, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, molar, neural retina, pharyngo-tympanic tube, spinal cord, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|616434
IPC-nEN3	AASS	0.869179168	0.000478564	Enzyme: Oxidoreductase;Enzyme: Synthase	BrainSpLMD|10157	OMIM|605113;HPO|10157|Abnormality of the genitourinary system, Anemia, Autosomal recessive inheritance, Cognitive impairment, Delayed speech and language development, EEG abnormality, Ectopia lentis, Histidinuria, Hyperactivity, Hyperlysinemia, Hyperlysinuria, Infantile onset, Intellectual disability, Intellectual disability, mild, Muscular hypotonia, Phenotypic variability, Seizures, Short attention span, Short stature, Spastic diplegia
IPC-nEN3	LZTS1	1.506110851	0.000480152	Unclassified	BrainSpLMD|11178;Eurexp|euxassay_011133|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|84266	OMIM|606551;HPO|11178|Autosomal dominant inheritance, Squamous cell carcinoma
IPC-nEN3	TMEM108	0.8541163	0.000497221	Unclassified	BrainSpLMD|66000;Eurexp|euxassay_002435|choroid plexus, lateral recess, marginal layer	OMIM|617361
IPC-nEN3	RPLP0	0.575653313	0.000512894	Ribosomal subunit	BrainSpLMD|6175	OMIM|180510
IPC-nEN3	LPPR4	1.558964218	0.000532921			
IPC-nEN3	CLASRP	0.994705821	0.000540222	RNA binding protein	BrainSpLMD|11129	
IPC-nEN3	MAGI1	1.294130296	0.000544256	Cell junction protein	BrainSpLMD|9223;Eurexp|euxassay_016214|axial skeleton, clavicle, femur, fibula, humerus, pelvic girdle, rib, scapula, tibia	OMIM|602625
IPC-nEN3	MT.ND3	0.52561346	0.000554444			
IPC-nEN3	RPS25	0.565834476	0.000557538	Ribosomal subunit	BrainSpLMD|6230	OMIM|180465
IPC-nEN3	FABP5	0.670919575	0.000573384	Transport/cargo protein	Eurexp|euxassay_002194|axial skeleton, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lobe, molar, naris, thoracic, thymus primordium, trigeminal V, vagus X, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|605168
IPC-nEN3	GNB2L1	0.378158547	0.000575946			
IPC-nEN3	RASGRP1	1.716145802	0.00057952	Guanine nucleotide exchange factor	BrainSpLMD|10125;Eurexp|euxassay_005719|mantle layer, olfactory, olfactory lobe	OMIM|603962
IPC-nEN3	RPL41	0.268096878	0.000584373	Unclassified	BrainSpLMD|6171	OMIM|613315
IPC-nEN3	TFDP2	0.842873195	0.000588322	Transcription factor	BrainSpLMD|7029;Eurexp|euxassay_009223|liver, marginal layer, nasal capsule, neural retina, olfactory, ventricular layer;BrainSpMouseDev|84320	OMIM|602160
IPC-nEN3	CACNA2D1	0.736023241	0.000589508	Voltage gated channel	BrainSpLMD|781;Eurexp|euxassay_006438|dorsal grey horn, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, pituitary, skeletal muscle, trigeminal V, ventral grey horn, vertebral axis muscle system;BrainSpMouseDev|12078	OMIM|114204;HPO|781|Atrial fibrillation, Bradycardia, Palpitations, Shortened QT interval
IPC-nEN3	HMGN2	0.456330176	0.000593918	Transcription regulatory protein	BrainSpLMD|3151;Eurexp|euxassay_007442|embryo;BrainSpMouseDev|15106	OMIM|163910
IPC-nEN3	MED27	1.079242875	0.000606174	Transcription regulatory protein	BrainSpLMD|9442	OMIM|605044
IPC-nEN3	TMEM258	0.421053359	0.000619442	Integral membrane protein	BrainSpLMD|746	OMIM|617615
IPC-nEN3	PPME1	0.619183768	0.000625521	Enzyme: Methyltransferase	BrainSpLMD|51400;Eurexp|euxassay_003617|bladder, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, incisor, olfactory, penis, respiratory, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|611117
IPC-nEN3	NONO	0.295693475	0.00063061	RNA binding protein	BrainSpLMD|4841;Eurexp|euxassay_006509|embryo	OMIM|300084;COSMIC||papillary renal;HPO|4841|Aggressive behavior, Ataxia, Dental crowding, Frontal bossing, Generalized hypotonia, Hallux valgus, High, narrow palate, Increased head circumference, Intellectual disability, Joint laxity, Kyphosis, Left ventricular noncompaction, Long face, Malar flattening, Mild global developmental delay, Motor delay, Myopia, Narrow mouth, Nasal speech, Neonatal hypotonia, Open mouth, Patent ductus arteriosus, Patent foramen ovale, Perseveration, Pes planus, Prominent nose, Right ventricular hypertrophy, Scoliosis, Seizures, Slender build, Strabismus, Thickened calvaria, Tremor, Upslanted palpebral fissure, Ventricular septal defect, X-linked recessive inheritance
IPC-nEN3	RPS15	0.503094169	0.000657487	Ribosomal subunit	BrainSpLMD|6209;Eurexp|euxassay_006826|embryo	OMIM|180535
IPC-nEN3	TARS2	1.977957585	0.000667065	Enzyme: Ligase	BrainSpLMD|80222	OMIM|612805;HPO|80222|Autosomal recessive inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hypoplasia of the corpus callosum, Increased serum lactate, Limb hypertonia, Muscular hypotonia of the trunk
IPC-nEN3	ETF1	0.859153484	0.000683975	Translation regulatory protein	BrainSpLMD|2107	OMIM|600285
IPC-nEN3	MFAP4	1.531280276	0.000736318	Extracellular matrix protein	BrainSpLMD|4239;BrainSpMouseDev|52134	OMIM|600596
IPC-nEN3	DACH1	0.766645806	0.000736664	Transcription regulatory protein	BrainSpLMD|1602;Eurexp|euxassay_012739|associated mesenchyme, bladder, calyces, cortex, dermis, dorsal root ganglion, facial VII, left lung, mantle layer, meninges, midgut, olfactory, oral region, pelvis, penis, retina, right lung, stomach, thymus primordium, trigeminal V, ureter, urethra, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|12914	OMIM|603803
IPC-nEN3	RP3.418C23.2	1.405089514	0.00073744			
IPC-nEN3	RPS27A	0.412608073	0.000739264	Ubiquitin proteasome system protein		OMIM|191343
IPC-nEN3	LINC00667	0.385231211	0.00074476			
IPC-nEN3	RPS27	0.397046709	0.000774917	Ribosomal subunit		OMIM|603702;HPO|6232|Abnormality of skin pigmentation, Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Anemia, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Macrocytic anemia, Migraine, Pallor
IPC-nEN3	RPL3P2	0.261664174	0.000782938			
IPC-nEN3	NAP1L1	0.477450337	0.000840308	Transcription regulatory protein	BrainSpLMD|4673;Eurexp|euxassay_005511|nucleus pulposus	OMIM|164060
IPC-nEN3	RPL13AP25	0.464921811	0.000863217			
IPC-nEN3	ZNF292	0.35999687	0.000878597	Transcription factor		SFARI||Autism, 4 - Minimal evidence;OMIM|616213
IPC-nEN3	RPL28	0.528300358	0.000900713	Ribosomal subunit	BrainSpLMD|6158	OMIM|603638
IPC-nEN3	ENY2	0.568875654	0.000921242	Transcription factor	BrainSpLMD|56943;Eurexp|euxassay_006635|ventricular layer	
IPC-nEN3	RPL18	0.834574862	0.00092298	Ribosomal subunit	BrainSpLMD|6141	OMIM|604179
IPC-nEN3	COL4A5	1.301111254	0.000954674	Extracellular matrix protein	BrainSpLMD|1287;Eurexp|euxassay_015894|bladder, ductus deferens, floorplate, lens, lung, meninges, stomach, sublingual gland primordium, submandibular gland primordium, thyroid, umbilical artery, umbilical vein, urethra, ventricular layer;BrainSpMouseDev|12613	OMIM|303630;HPO|1287|Anterior lenticonus, Congenital cataract, Corneal erosion, Diffuse glomerular basement membrane lamellation, Diffuse leiomyomatosis, Heterogeneous, Hypertension, Hypoparathyroidism, Ichthyosis, Microscopic hematuria, Myopia, Nephritis, Nephrotic syndrome, Progressive, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidney disease, Thickening of the glomerular basement membrane, Thrombocytopenia, X-linked dominant inheritance
IPC-nEN3	JAKMIP2	0.441219622	0.000977912	Unclassified	BrainSpLMD|9832	OMIM|611197
IPC-nEN3	C8orf59	0.563795928	0.00098917	Unclassified	BrainSpLMD|401466	
IPC-nEN3	RPL4P5	0.351389525	0.001041606			
IPC-nEN3	RP11.138A9.2	1.287145958	0.00104816			
IPC-nEN3	RPL24P4	0.668067114	0.001082825			
IPC-nEN3	CRB1	0.845479043	0.001105848	Unclassified	BrainSpLMD|23418	OMIM|604210;HPO|23418|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Encephalocele, Esotropia, Glaucoma, Hemiplegia/hemiparesis, High-grade hypermetropia, Hyperinsulinemia, Hypermetropia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Muscular hypotonia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paravenous chorioretinal atrophy, Pendular nystagmus, Photophobia, Progressive night blindness, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe visual impairment, Undetectable electroretinogram, Visual impairment, Vitreoretinal degeneration, Wide nasal bridge
IPC-nEN3	WIPF3	0.555620025	0.001110762	Cytoskeletal associated protein	BrainSpLMD|644150	OMIM|612432
IPC-nEN3	SMAD5	0.431208461	0.001153482	Transcription regulatory protein	BrainSpLMD|4090;Eurexp|euxassay_019553|incisor, lung, mantle layer, metanephros, molar, saccule, spleen primordium, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|16899	OMIM|603110
IPC-nEN3	CA12	1.427730359	0.001168322	Enzyme: Carbonic anhydrase	BrainSpLMD|771;Eurexp|euxassay_018906|choroid plexus, clavicle, epithelium, incisor, molar, nasal septum, olfactory, oral epithelium, submandibular gland primordium, vibrissa	OMIM|603263;HPO|771|Autosomal dominant inheritance, Autosomal recessive inheritance, Dehydration, Failure to thrive, Feeding difficulties, Hyperkalemia, Hyponatremia, Infantile onset
IPC-nEN3	HDAC9	0.73634165	0.001173545	Transcription regulatory protein	BrainSpLMD|9734	OMIM|606543
IPC-nEN3	ACIN1	0.561293572	0.001250727	DNA binding protein	BrainSpLMD|22985	OMIM|604562
IPC-nEN3	HNRNPA1P35	0.56379835	0.001279306			
IPC-nEN3	RPL35A	0.541519449	0.001336468	Ribosomal subunit	BrainSpLMD|6165;Eurexp|euxassay_000501|basisphenoid bone, glossopharyngeal IX, mantle layer, orbito-sphenoid, otic capsule, pancreas, sphenoid, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, ventricular layer, vestibular component	OMIM|180468;HPO|6165|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Erythroid hypoplasia, Fatigue, Global developmental delay, Hypertelorism, Hypospadias, Infantile onset, Leukopenia, Low-set ears, Macrocytic anemia, Migraine, Pallor, Reticulocytopenia, Short stature, Ventricular septal defect
IPC-nEN3	MPPED2	1.007493586	0.001389873	Enzyme: Hydrolase	BrainSpLMD|744;Eurexp|euxassay_014223|axial skeleton, head mesenchyme, rib, thyroid, ventricular layer	OMIM|600911
IPC-nEN3	SYNRG	1.324182554	0.001436557	Transport/cargo protein	BrainSpLMD|11276	OMIM|607291
IPC-nEN3	RPS18	0.470254696	0.001544905	Ribosomal subunit	BrainSpLMD|6222	OMIM|180473
IPC-nEN3	RPS5	0.637759182	0.001603368	Ribosomal subunit		OMIM|603630
IPC-nEN3	PSME4	0.95867792	0.001630679	Ubiquitin proteasome system protein	BrainSpLMD|23198;Eurexp|euxassay_009612|dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, maxilla, neural retina, olfactory, orbito-sphenoid, submandibular gland primordium, trigeminal V	OMIM|607705
IPC-nEN3	FAM96B	0.853721408	0.001637698	Unclassified	BrainSpLMD|51647	OMIM|614778
IPC-nEN3	PHB	0.998799223	0.001658999	Adapter molecule	BrainSpLMD|5245	SFARI||Autism, 3 - Suggestive evidence;OMIM|176705
IPC-nEN3	C21orf59	1.054925201	0.001669069	Unclassified	BrainSpLMD|56683;Eurexp|euxassay_006908|cerebral cortex, choroid invagination, choroid plexus, olfactory, roof plate	OMIM|615494;HPO|56683|Autosomal recessive inheritance, Bronchiectasis, Chronic bronchitis, Ciliary dyskinesia, Infertility, Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Reduced sperm motility, Respiratory insufficiency due to defective ciliary clearance, Rhinitis, Sinusitis, Situs inversus totalis
IPC-nEN3	GJC1	1.018348844	0.001673816	Transport/cargo protein	BrainSpLMD|10052;Eurexp|euxassay_012257|cortex, incisor, mantle layer, trachea, ventricular layer	OMIM|608655
IPC-nEN3	RPL18AP3	0.357791772	0.001725034			
IPC-nEN3	ACTB	0.487013421	0.001841648	Cytoskeletal protein	BrainSpLMD|60;BrainSpMouseDev|11250	OMIM|102630;HPO|60|Abnormality of metabolism/homeostasis, Achalasia, Agenesis of corpus callosum, Anteverted nares, Aortic valve stenosis, Aphasia, Autosomal dominant inheritance, Autosomal recessive inheritance, Bicuspid aortic valve, Blindness, Cataract, Cerebral cortical hemiatrophy, Chorioretinal coloboma, Cleft palate, Cleft upper lip, Coarse facial features, Cryptorchidism, Death in early adulthood, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Dysphagia, Dysphasia, Echolalia, Epicanthus, Euryblepharon, Externally rotated hips, Failure to thrive, Feeding difficulties, Full cheeks, Generalized dystonia, Generalized hypotonia, Global developmental delay, Growth delay, Heterochromia iridis, High forehead, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplastic scapulae, Immunodeficiency, Intellectual disability, Intellectual disability, mild, Iris coloboma, Joint stiffness, Kyphoscoliosis, Kyphosis, Large fontanelles, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Macroglossia, Macrogyria, Mental deterioration, Microcephaly, Micrognathia, Micromelia, Micropenis, Mild global developmental delay, Mutism, Oral cleft, Osteochondrosis, Overfolded helix, Pachygyria, Patent ductus arteriosus, Pointed chin, Polymicrogyria, Postnatal growth retardation, Prominent epicanthal folds, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Scoliosis, Seizures, Sensorineural hearing impairment, Short columella, Short neck, Short nose, Short stature, Skeletal dysplasia, Small for gestational age, Specific learning disability, Subcortical cerebral atrophy, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Trigonocephaly, Wide mouth, Wide nasal bridge, Wide nose
IPC-nEN3	SDC2	1.485759131	0.001866756	Adhesion molecule	BrainSpLMD|6383;Eurexp|euxassay_002176|Meckel's cartilage, basioccipital bone, orbito-sphenoid, rib, temporal bone	SFARI||Autism, 4 - Minimal evidence;OMIM|142460
IPC-nEN3	USP3	0.494182823	0.001929509	Ubiquitin proteasome system protein	BrainSpLMD|9960	OMIM|604728
IPC-nEN3	NFE2L2	0.292856799	0.001969106	Transcription factor	BrainSpLMD|4780;Eurexp|euxassay_018087|larynx, midgut, rectum, stomach, submandibular gland primordium, thyroid, trachea;BrainSpMouseDev|17791	OMIM|600492;COSMIC||NSCLC, HNSCC
IPC-nEN3	RPLP0P6	0.528006916	0.002028836			
IPC-nEN3	TEX9	1.613878933	0.002043898	Unclassified	BrainSpLMD|374618	
IPC-nEN3	ZHX3	1.26271967	0.002049605	Transcription regulatory protein	BrainSpLMD|23051;Eurexp|euxassay_019571|cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, midgut, thoracic, trigeminal V, vagus X, vibrissa;BrainSpMouseDev|107734	OMIM|609598
IPC-nEN3	LPPR1	1.01197931	0.002126088			
IPC-nEN3	IRGQ	0.779940678	0.002147179	Unclassified		
IPC-nEN3	GPC2	1.291762537	0.00217319	Integral membrane protein	BrainSpLMD|221914;Eurexp|euxassay_006296|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
IPC-nEN3	RP1.104O17.3	1.414892555	0.002181409			
IPC-nEN3	FRMD4A	1.478120271	0.002233417	Cytoskeletal associated protein	BrainSpLMD|55691;Eurexp|euxassay_001880|dorsal root ganglion, glossopharyngeal IX, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|616305;HPO|55691|Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Ataxia, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Congenital microcephaly, Everted lower lip vermilion, Global developmental delay, Hirsutism, Intellectual disability, Long eyelashes, Low anterior hairline, Low-set ears, Narrow forehead, Posteriorly rotated ears, Protruding ear, Sparse hair, Strabismus, Thick eyebrow, Upper eyelid edema
IPC-nEN3	COMMD6	0.460184936	0.002254262	Unclassified	BrainSpLMD|170622	OMIM|612377
IPC-nEN3	RPL3P4	0.562783769	0.002284618			
IPC-nEN3	SEC11A	1.182577931	0.002375497	Aminopeptidase	BrainSpLMD|23478;Eurexp|euxassay_003417|Meckel's cartilage, basisphenoid bone, calyces, cervical, cervico-thoracic, clavicle, dorsal root ganglion, glossopharyngeal IX, incisor, mantle layer, olfactory, orbital fissure, orbito-sphenoid, pancreas, respiratory, submandibular gland primordium, testis, thoracic, trigeminal V, vagus X, ventral grey horn, vibrissa	
IPC-nEN3	RPL21	0.378944648	0.002397483	Ribosomal subunit		OMIM|603636;HPO|6144|Alopecia, Aplasia/Hypoplasia of the eyebrow, Autosomal dominant inheritance, Hypotrichosis, Hypotrichosis of the scalp, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Sparse or absent eyelashes
IPC-nEN3	SRRM2	0.463902449	0.002426828	RNA binding protein	BrainSpLMD|23524;Eurexp|euxassay_008167|embryo	OMIM|606032
IPC-nEN3	POU3F2	0.532973673	0.002458418	Transcription factor	BrainSpLMD|5454;BrainSpMouseDev|18755	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600494
IPC-nEN3	RRP8	1.856540062	0.002477417	Enzyme: Methyltransferase	BrainSpLMD|23378;Eurexp|euxassay_013676|ventricular layer	OMIM|615818
IPC-nEN3	RP11.51O6.1	0.432602105	0.002491695			
IPC-nEN3	DNAJC8	0.701518075	0.00255338	Chaperone	BrainSpLMD|22826	
IPC-nEN3	NSMCE1	1.077612549	0.002597602	Unclassified	BrainSpLMD|197370	OMIM|617263
IPC-nEN3	CCT5	0.38370084	0.002630399	Chaperone	BrainSpLMD|22948	OMIM|610150;HPO|22948|Abnormality of the foot, Acral ulceration and osteomyelitis leading to autoamputation of digits, Atrophy of the spinal cord, Autosomal recessive inheritance, Babinski sign, Clonus, Decreased circulating low-density lipoprotein levels, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment, Distal sensory loss of all modalities, Hypocholesterolemia, Infantile onset, Juvenile onset, Peripheral axonal neuropathy, Spastic gait, Spastic paraplegia
IPC-nEN3	ZNF423	1.025196109	0.002683588	DNA binding protein	BrainSpLMD|23090	OMIM|604557;HPO|23090|Apnea, Ataxia, Autistic behavior, Autosomal dominant inheritance, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Global developmental delay, Intellectual disability, Iris coloboma, Long face, Low-set, posteriorly rotated ears, Molar tooth sign on MRI, Muscular hypotonia, Nephronophthisis, Nephropathy, Nystagmus, Phenotypic variability, Polycystic kidney dysplasia, Ptosis, Retinal dystrophy, Tachypnea
IPC-nEN3	PENK	1.559107955	0.002820315	Peptide hormone	BrainSpLMD|5179;BrainSpMouseDev|18385	OMIM|131330
IPC-nEN3	NEDD4L	0.52778068	0.00284896	Ubiquitin proteasome system protein	BrainSpLMD|23327;Eurexp|euxassay_011535|brain, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, metanephros, midgut, neural retina, oesophagus, olfactory, pancreas, rectum, renal/urinary system, rest of mesenchyme, skeletal muscle, spinal cord, stomach, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|606384;HPO|23327|2-3 toe syndactyly, Autosomal dominant inheritance, Cleft palate, Congenital onset, Cryptorchidism, Global developmental delay, Intellectual disability, Micrognathia, Muscular hypotonia of the trunk, Strabismus
IPC-nEN3	FAM60CP	0.857791524	0.002893641			
IPC-nEN3	RPL21P75	0.392043806	0.002897805			
IPC-nEN3	PTTG1IP	1.281703823	0.003004331	Transport/cargo protein	BrainSpLMD|754	OMIM|603784
IPC-nEN3	C12orf57	0.388246166	0.003056274	Unclassified	BrainSpLMD|113246	SFARI||Autism, No category;OMIM|615140;HPO|113246|Agenesis of corpus callosum, Aortic dilatation, Aortic regurgitation, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Brachydactyly, Chorioretinal coloboma, Coarse facial features, Convex nasal ridge, Dental crowding, Dolichocephaly, Downslanted palpebral fissures, Ectopia lentis, Frontal bossing, Generalized hypotonia, Genu varum, Global developmental delay, Highly arched eyebrow, Hip dislocation, Hypertelorism, Hypoplasia of teeth, Infantile onset, Intellectual disability, Intellectual disability, mild, Iris coloboma, Long face, Long philtrum, Lop ear, Low-set ears, Macrocephaly, Micrognathia, Myopia, Pes planus, Short 2nd toe, Short toe, Talipes equinovarus, Ventriculomegaly
IPC-nEN3	UBE2O	0.413359267	0.003078437	Ubiquitin proteasome system protein	BrainSpLMD|63893	OMIM|617649
IPC-nEN3	POLR2L	0.644697357	0.003090138	RNA polymerase	BrainSpLMD|5441;Eurexp|euxassay_019574|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, liver, lung, midgut, nucleus pulposus, oesophagus, pancreas, stomach, submandibular gland primordium, testis, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|601189
IPC-nEN3	GLUL	0.717443092	0.003149955	Enzyme: Aminotransferase	BrainSpLMD|2752;BrainSpMouseDev|14421	OMIM|138290;HPO|2752|Apnea, Autosomal recessive inheritance, Bradycardia, Brain atrophy, CNS hypomyelination, Depressed nasal bridge, Encephalopathy, Generalized hypotonia, Hyperammonemia, Hyperreflexia, Hypoplasia of the corpus callosum, Low-set ears, Periventricular cysts, Respiratory insufficiency, Seizures, Severe global developmental delay, Skin rash, Subependymal cysts, Ventriculomegaly, Wide nasal bridge
IPC-nEN3	RPLP1	0.283153323	0.003189704	Ribosomal subunit		OMIM|180520
IPC-nEN3	PKM	0.626312277	0.003197032	Enzyme: Phosphotransferase	BrainSpLMD|5315	OMIM|179050
IPC-nEN3	ADAR	0.657608077	0.003332194	Enzyme: Deaminase	BrainSpLMD|103;Eurexp|euxassay_018648|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|146920;HPO|103|Arrhinencephaly, Autosomal dominant inheritance, Autosomal recessive inheritance, Cleft eyelid, Dystonia, Global developmental delay, Hemiplegia/hemiparesis, Hyperpigmented/hypopigmented macules, Infantile onset, Intellectual disability, profound, Loss of ability to walk, Loss of speech, Macular hyperpigmentation, Macular hypopigmentation, Macule, Porencephalic cyst, Rigidity, Spasticity, Torsion dystonia, Tremor
IPC-nEN3	SEMA5B	0.857257611	0.003363424	Integral membrane protein	BrainSpLMD|54437;BrainSpMouseDev|20120	OMIM|609298
IPC-nEN3	NOL4L	0.414037387	0.003416688	Unclassified	BrainSpLMD|140688;Eurexp|euxassay_006045|ear, olfactory	
IPC-nEN3	DENND1B	1.237512993	0.003615065	Unclassified	BrainSpLMD|163486	OMIM|613292
IPC-nEN3	CTD.2192J16.15	0.388016435	0.003676187			
IPC-nEN3	GRAMD1B	0.551750948	0.0036787	Integral membrane protein	BrainSpLMD|57476;Eurexp|euxassay_016918|medulla, testis	
IPC-nEN3	CTTN	0.496760751	0.003701111	Cytoskeletal associated protein	BrainSpLMD|2017	OMIM|164765
IPC-nEN3	AC007969.5	0.508583226	0.003772018			
IPC-nEN3	RP11.556K13.1	1.197657399	0.003846089			
IPC-nEN3	USMG5	0.363621143	0.003883687			
IPC-nEN3	ZNF232	1.448694329	0.003922766	Transcription regulatory protein	BrainSpLMD|7775	OMIM|616463
IPC-nEN3	DUSP12	1.237439815	0.003959087	Dual specificity phosphatase	BrainSpLMD|11266	OMIM|604835
IPC-nEN3	RP11.864N7.2	0.364055614	0.003980341			
IPC-nEN3	IFT74	0.264695868	0.004047138	Unclassified	BrainSpLMD|80173;Eurexp|euxassay_011501|olfactory	OMIM|608040;HPO|80173|Autosomal recessive inheritance, Hypogonadism, Intellectual disability, Microcephaly, Obesity, Polydactyly, Rod-cone dystrophy
IPC-nEN3	SLC4A7	0.355114779	0.004074382	Transport/cargo protein	BrainSpLMD|9497	OMIM|603353
IPC-nEN3	CBFA2T2	1.108416635	0.004091304	Transcription factor	BrainSpLMD|9139;Eurexp|euxassay_019496|lung, marginal layer, neural retina, olfactory, pituitary, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|12181	OMIM|603672
IPC-nEN3	RPN2	0.722129704	0.004091781	Enzyme: Glycosyltransferase	BrainSpLMD|6185;Eurexp|euxassay_018263|embryo	OMIM|180490
IPC-nEN3	ZNF253	1.067264236	0.004184397	Transcription factor	BrainSpLMD|56242	OMIM|606954
IPC-nEN3	C19orf70	0.919188372	0.004252429	Unclassified	BrainSpLMD|125988	OMIM|616658;HPO|125988|3-Methylglutaconic aciduria, Ataxia, Choreoathetosis, Dysarthria, Intellectual disability, Nystagmus, Spastic paraparesis, Visual impairment
IPC-nEN3	SRSF7	0.447880035	0.004319361	RNA binding protein	BrainSpLMD|6432	OMIM|600572
IPC-nEN3	TMSB4XP4	0.587189762	0.004406455	-		
IPC-nEN3	MAD2L2	1.12097104	0.004430975	Cell cycle control protein	BrainSpLMD|10459;Eurexp|euxassay_003427|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, penis, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|604094;HPO|10459|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bone marrow hypocellularity, Elevated alpha-fetoprotein, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Neutropenia, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia
IPC-nEN3	RGL1	0.958671548	0.004441318	Guanine nucleotide exchange factor	BrainSpLMD|23179	OMIM|605667
IPC-nEN3	LIMD1	1.508086075	0.004498563	Transcription regulatory protein	BrainSpLMD|8994	OMIM|604543
IPC-nEN3	ZKSCAN1	0.562351299	0.004583889	Transcription regulatory protein	BrainSpLMD|7586;Eurexp|euxassay_012753|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, olfactory, spinal cord, trigeminal V, vagus X;BrainSpMouseDev|50411	OMIM|601260
IPC-nEN3	GPN1	0.945129022	0.00466033	GTPase	BrainSpLMD|11321;Eurexp|euxassay_003421|sublingual gland primordium, submandibular gland primordium	OMIM|611479
IPC-nEN3	RPL15P3	0.305047033	0.004685838			
IPC-nEN3	TMTC2	1.214522731	0.004767797	Integral membrane protein	BrainSpLMD|160335;Eurexp|euxassay_011308|axial skeleton, bladder, brain, capsule, clavicle, cornea, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, hindgut, mandible, maxilla, midgut, oesophagus, olfactory, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, rib, skeletal muscle, spinal cord, stomach, tibia, trigeminal V, ureter, vagus X, valve, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|615856
IPC-nEN3	SETBP1	0.447931944	0.004785176	Transcription regulatory protein	BrainSpLMD|26040	SFARI||Autism, 3 - Suggestive evidence;OMIM|611060;COSMIC||aCML, sAML, MDS/MPN-U, CMML, JMML, neuroepithelial tumours;HPO|26040|Abnormality of the nasopharynx, Absent speech, Anteverted nares, Aplasia/Hypoplasia of the pubic bone, Atrial septal defect, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bicornuate uterus, Brachycephaly, Broad ribs, Cerebral atrophy, Choanal stenosis, Coarse facial features, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Facial hemangioma, Failure to thrive, Hepatoblastoma, High forehead, High palate, Hydronephrosis, Hydroureter, Hyperconvex nail, Hypertelorism, Hypertrichosis, Hypoplasia of first ribs, Hypoplasia of the corpus callosum, Hypoplastic labia majora, Hypoplastic labia minora, Hypoplastic nipples, Hypospadias, Hypsarrhythmia, Increased density of long bones, Intellectual disability, Long clavicles, Long face, Low-set ears, Macroglossia, Malar flattening, Metopic suture patent to nasal root, Micropenis, Midface retrusion, Motor delay, Narrow palate, Opisthotonus, Pointed chin, Postaxial hand polydactyly, Postnatal growth retardation, Prominent forehead, Ptosis, Sacrococcygeal teratoma, Sclerosis of skull base, Scrotal hypoplasia, Seizures, Shallow orbits, Short 1st metacarpal, Short distal phalanx of finger, Short neck, Short nose, Short sternum, Single transverse palmar crease, Sloping forehead, Synophrys, Talipes equinovarus, Thickened cortex of long bones, Thin upper lip vermilion, Tibial bowing, Ureteral stenosis, Ventriculomegaly, Wide distal femoral metaphysis, Widely patent fontanelles and sutures, Wormian bones
IPC-nEN3	EGR1	0.739245054	0.00500532	Transcription factor	BrainSpLMD|1958;Eurexp|euxassay_008911|mesenchyme;BrainSpMouseDev|13431	OMIM|128990
IPC-nEN3	MT.TS1	0.383256236	0.005089685			
IPC-nEN3	SCAND1	1.177552005	0.005189898	Transcription regulatory protein	BrainSpLMD|51282	OMIM|610416
IPC-nEN3	CELSR1	0.40548669	0.005257115	G protein coupled receptor	BrainSpLMD|9620;BrainSpMouseDev|12399	OMIM|604523
IPC-nEN3	HIGD2A	0.925152493	0.005312336	Unclassified	BrainSpLMD|192286	
IPC-nEN3	ZNF146	0.937990139	0.005332183	DNA binding protein	BrainSpLMD|7705	OMIM|601505
IPC-nEN3	UBAP2L	0.925815767	0.005384998	Unclassified	BrainSpLMD|9898	OMIM|616472
IPC-nEN3	GTF2I	0.37397849	0.005420489	Transcription factor	BrainSpLMD|2969	SFARI||Autism, 4 - Minimal evidence;OMIM|601679;HPO|2969|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the neck, Anxiety, Arthralgia, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad forehead, Cerebral ischemia, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Dental malocclusion, Depressivity, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Epicanthus, Everted lower lip vermilion, Failure to thrive in infancy, Gait imbalance, Genu valgum, Hallux valgus, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Inguinal hernia, Insomnia, Intellectual disability, Joint stiffness, Kyphosis, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Microcephaly, Microdontia, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Open bite, Overfriendliness, Pelvic kidney, Periorbital edema, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Proteinuria, Protruding ear, Pulmonic stenosis, Redundant skin, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Visual impairment, Wide mouth, Wide nasal bridge
IPC-nEN3	SVIL	0.982421987	0.005432513	Cytoskeletal associated protein	BrainSpLMD|6840;Eurexp|euxassay_011675|epidermis, exoccipital bone, meninges, midgut, pharyngo-tympanic tube, skeletal muscle, stomach, vibrissa	OMIM|604126
IPC-nEN3	PSMD5	0.800905051	0.005477657	Ubiquitin proteasome system protein	BrainSpLMD|5711	OMIM|604452
IPC-nEN3	RPS24	0.604705882	0.005521732	Ribosomal subunit	BrainSpLMD|6229;Eurexp|euxassay_007446|embryo	OMIM|602412;HPO|6229|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Increased mean corpuscular volume, Macrocytic anemia, Migraine, Pallor, Persistence of hemoglobin F, Reticulocytopenia, Webbed neck
IPC-nEN3	NPM1	0.28718541	0.005542978	Chaperone	BrainSpLMD|4869;Eurexp|euxassay_005708|embryo	OMIM|164040;COSMIC||NHL, APL, AML
IPC-nEN3	SALL1	0.275470751	0.005563599	Transcription factor	BrainSpLMD|6299;Eurexp|euxassay_000198|basal columns, corpus striatum, epithelium, floor plate, floorplate, glomeruli, handplate, head mesenchyme, intermediate grey horn, isthmus, lateral wall, mantle layer, marginal layer, medulla oblongata, mesenchyme, olfactory, pars tuberalis, penis, skin, telencephalon, thyroid, ventral grey horn, ventricular layer;BrainSpMouseDev|37230	OMIM|602218;HPO|6299|2-3 toe syndactyly, 3-4 finger syndactyly, 3-4 toe syndactyly, Anal atresia, Anal stenosis, Anteriorly placed anus, Aplasia/Hypoplasia of the 3rd toe, Autosomal dominant inheritance, Bifid scrotum, Bifid uterus, Broad thumb, Chorioretinal coloboma, Clinodactyly of the 5th finger, Constipation, Cryptorchidism, Duodenal atresia, External ear malformation, Gastroesophageal reflux, Hearing impairment, Hypospadias, Hypothyroidism, Intellectual disability, Macrotia, Metatarsal synostosis, Microcephaly, Microtia, Overfolded helix, Overfolding of the superior helices, Partial duplication of thumb phalanx, Pes planus, Preauricular skin tag, Preaxial hand polydactyly, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Rectovaginal fistula, Renal insufficiency, Satyr ear, Short metatarsal, Stahl ear, Subcutaneous nodule, Tetralogy of Fallot, Toe clinodactyly, Triphalangeal thumb, Umbilical hernia, Urethral valve, Ventricular septal defect
IPC-nEN3	PTPRS	0.25230441	0.005630973	Receptor tyrosine phosphatase	BrainSpLMD|5802;Eurexp|euxassay_009779|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|601576
IPC-nEN3	NFIX	1.242247688	0.005763947	Transcription factor	BrainSpLMD|4784;BrainSpMouseDev|17799	SFARI||Autism, No category;OMIM|164005;HPO|4784|Accelerated skeletal maturation, Advanced eruption of teeth, Agenesis of corpus callosum, Anteverted nares, Anxiety, Astigmatism, Atlantoaxial dislocation, Atrial septal defect, Autosomal dominant inheritance, Blue sclerae, Bullet-shaped middle phalanges of the hand, Cerebral atrophy, Choanal atresia, Choanal stenosis, Coxa valga, Cutis marmorata, Death in childhood, Decreased body weight, Delayed speech and language development, Depressed nasal bridge, Distal widening of metacarpals, Downslanted palpebral fissures, Eclabion, Everted lower lip vermilion, Failure to thrive, Frontal bossing, Generalized hypotonia, Gingival overgrowth, Glossoptosis, Hearing impairment, High forehead, Hypermetropia, Hypoplasia of the odontoid process, Intellectual disability, Irregular dentition, Large sternal ossification centers, Laryngomalacia, Long face, Long fingers, Low-set ears, Macrocephaly, Macrogyria, Malar flattening, Mandibular prognathia, Midface retrusion, Motor delay, Narrow face, Narrow mouth, Nystagmus, Obstructive sleep apnea, Omphalocele, Overfolded helix, Overgrowth, Patent ductus arteriosus, Pectus excavatum, Prominence of the premaxilla, Prominent forehead, Pulmonary arterial hypertension, Recurrent aspiration pneumonia, Retrognathia, Scoliosis, Shallow orbits, Short distal phalanx of finger, Short mandibular rami, Short nose, Short philtrum, Short sternum, Slender long bone, Sporadic, Strabismus, Synophrys, Tall stature, Thick eyebrow, Umbilical hernia, Ventriculomegaly
IPC-nEN3	MSMO1	0.383209926	0.005834671	Unclassified	BrainSpLMD|6307;Eurexp|euxassay_000744|Meckel's cartilage, adrenal gland, calyces, chondrocranium, dorsal root ganglion, facial VII, foregut-midgut junction, hindgut, incisor, inferior, lobe, mesenchyme, midgut, molar, olfactory, stomach, superior, testis, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|607545;HPO|6307|Arthralgia, Autosomal recessive inheritance, Blepharitis, Congenital cataract, Decreased circulating low-density lipoprotein levels, Delayed puberty, Delayed skeletal maturation, Failure to thrive, Global developmental delay, Hypocholesterolemia, Ichthyosis, Intellectual disability, mild, Microcephaly, Psoriasiform dermatitis, Short stature
IPC-nEN3	MT.TN	0.597667514	0.005841833			
IPC-nEN3	EHBP1	0.653024508	0.005868669	Unclassified	BrainSpLMD|23301	OMIM|609922
IPC-nEN3	RPSAP15	0.27371365	0.00603558			
IPC-nEN3	EIF3FP3	0.786519397	0.006035778			
IPC-nEN3	CCNB1IP1	1.016520128	0.006078491	Cell cycle control protein	BrainSpLMD|57820	OMIM|608249;COSMIC||leiomyoma
IPC-nEN3	EEF1D	0.649728992	0.006113783	Guanine nucleotide exchange factor	BrainSpLMD|1936	OMIM|130592
IPC-nEN3	ZNF462	0.415016443	0.006115716	Transcription regulatory protein	BrainSpLMD|58499;Eurexp|euxassay_016001|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, incisor, inner ear, mandible, mantle layer, mesenchyme, metanephros, molar, neural retina, penis, pharyngo-tympanic tube, submandibular gland primordium, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|88953	SFARI||Autism, 4 - Minimal evidence;OMIM|617371
IPC-nEN3	ACTBP2	0.382605187	0.00632918			
IPC-nEN3	RPS16	0.413109729	0.00639913	Ribosomal subunit	BrainSpLMD|6217	OMIM|603675
IPC-nEN3	ACTR6	0.33078977	0.00640468	Cytoskeletal associated protein	BrainSpLMD|64431	
IPC-nEN3	GDI2	0.311802039	0.006587853	Membrane transport protein	BrainSpLMD|2665	OMIM|600767
IPC-nEN3	GPRC5B	1.520358329	0.006611493	G protein coupled receptor	BrainSpLMD|51704;BrainSpMouseDev|40898	OMIM|605948
IPC-nEN3	PAXBP1	0.304960815	0.006750345	Unclassified	BrainSpLMD|94104;Eurexp|euxassay_012943|brain, choroid plexus, dorsal root ganglion, lateral recess, spinal cord, trigeminal V, vagus X, ventricle	OMIM|617621
IPC-nEN3	MIR4426	0.376730181	0.006853048			
IPC-nEN3	SKP1	0.28332148	0.006863595	Ubiquitin proteasome system protein	BrainSpLMD|6500	OMIM|601434
IPC-nEN3	PNN	0.362363908	0.00686885	Adhesion molecule	BrainSpLMD|5411;BrainSpMouseDev|18712	OMIM|603154
IPC-nEN3	ZC3H12C	0.363614948	0.006973846	Unclassified		OMIM|615001
IPC-nEN3	EIF3A	0.566948984	0.00712723	Translation regulatory protein	BrainSpLMD|8661	OMIM|602039
IPC-nEN3	FAM127A	1.104465096	0.007169943			
IPC-nEN3	CHN2	1.626529447	0.007637867	GTPase activating protein	BrainSpLMD|1124;Eurexp|euxassay_006113|embryo	OMIM|602857
IPC-nEN3	FGD4	0.744820929	0.007801076	Guanine nucleotide exchange factor	BrainSpLMD|121512;Eurexp|euxassay_009166|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, handplate, neural retina, olfactory, pancreas, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|611104;HPO|121512|Areflexia, Autosomal recessive inheritance, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal sensory impairment, Heterogeneous, Hyporeflexia, Infantile onset, Motor delay, Onion bulb formation, Peripheral demyelination, Pes cavus, Scoliosis, Talipes equinovarus, Upper limb muscle weakness, Waddling gait
IPC-nEN3	RPL39P3	0.498205901	0.007925797			
IPC-nEN3	RPLP2	0.610677679	0.007995825	Ribosomal subunit		OMIM|180530
IPC-nEN3	OXR1	0.72830786	0.008024703	Unclassified	BrainSpLMD|55074	OMIM|605609
IPC-nEN3	FBL	0.765074949	0.008069714	Ribonucleoprotein	BrainSpLMD|2091;Eurexp|euxassay_002909|submandibular gland primordium	OMIM|134795
IPC-nEN3	PEX19	1.354034038	0.008117087	Integral membrane protein	BrainSpLMD|5824	OMIM|600279;HPO|5824|Abnormal cortical bone morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the hairline, Abnormality of the liver, Abnormality of the male genitalia, Abnormality of the palate, Anteverted nares, Ataxia, Atrial septal defect, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, CNS demyelination, Cataract, Central hypotonia, Cerebral atrophy, Cholelithiasis, Chorioretinal abnormality, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cranial asymmetry, Cryptorchidism, Death in infancy, Decreased body weight, Decreased fetal movement, Delayed closure of the anterior fontanelle, Depressed nasal bridge, Developmental regression, Dolichocephaly, Double outlet right ventricle, EEG abnormality, Elevated hepatic transaminases, Elevated levels of phytanic acid, Elevated long chain fatty acids, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Global developmental delay, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydrocephalus, Hydronephrosis, Hyperbilirubinemia, Hyperreflexia, Hypospadias, Jaundice, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Muscular hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Patent ductus arteriosus, Periorbital fullness, Polymicrogyria, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Prominent nose, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Renal tubular dysfunction, Respiratory insufficiency, Rod-cone dystrophy, Scaphocephaly, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Skeletal dysplasia, Spasticity, Strabismus, Triangular face, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
IPC-nEN3	NCOA5	0.322857226	0.008137949	Transcription regulatory protein	BrainSpLMD|57727	OMIM|616825
IPC-nEN3	MMADHC	0.30874026	0.008170333	Unclassified	BrainSpLMD|27249	OMIM|611935;HPO|27249|Anorexia, Autosomal recessive inheritance, Behavioral abnormality, Cerebral cortical atrophy, Decreased adenosylcobalamin, Decreased methionine synthase activity, Decreased methylcobalamin, Decreased methylmalonyl-CoA mutase activity, Dystonia, Failure to thrive, Fatigue, Gait disturbance, Generalized hypotonia, Global developmental delay, Homocystinuria, Hyperhomocystinemia, Hypomethioninemia, Increased mean corpuscular volume, Infantile onset, Intellectual disability, Lethargy, Megaloblastic anemia, Megaloblastic bone marrow, Methylmalonic acidemia, Methylmalonic aciduria, Nystagmus, Pallor, Seizures, Spastic ataxia
IPC-nEN3	MTPN	0.756695753	0.008284275	Cell cycle control protein		OMIM|606484
IPC-nEN3	METAP2	0.86843742	0.008382169	Translation regulatory protein	BrainSpLMD|10988	OMIM|601870
IPC-nEN3	CELSR2	0.889021531	0.00863514	G protein coupled receptor	BrainSpLMD|1952;Eurexp|euxassay_008296|brain, spinal cord, vibrissa;BrainSpMouseDev|33178	OMIM|604265
IPC-nEN3	FDFT1	0.521271521	0.008650253	Enzyme: Synthase	BrainSpLMD|2222;Eurexp|euxassay_005703|calyces, cerebral cortex, cervical, cervico-thoracic, cochlear component, dorsal root ganglion, epithelium, facial VII, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, inferior, inner ear, lens, loop, mantle layer, mesenteric artery, midgut, molar, nucleus pulposus, retina, skeleton, stomach, superior, tegmentum, thoracic, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|184420
IPC-nEN3	FLNB	1.956050506	0.008721145	Cytoskeletal associated protein	BrainSpLMD|2317;Eurexp|euxassay_014002|axial skeleton, clavicle, exoccipital bone, incisor, mandible, maxilla, mesenchyme, metatarsus, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, palatal shelf, phalanx, sternum, submandibular gland primordium, temporal bone, thymus primordium, thyroid, trachea, turbinate, ventricular layer, vibrissa	OMIM|603381;HPO|2317|11 pairs of ribs, Abnormality of femur morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the humerus, Abnormality of the metacarpal bones, Abnormality of the radius, Abnormality of tibia morphology, Absent radius, Accessory carpal bones, Aortic dilatation, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the ulna, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Beaking of vertebral bodies, Bipartite calcaneus, Block vertebrae, Brachydactyly, Broad distal phalanx of finger, Broad face, Broad nasal tip, Broad thumb, Bronchomalacia, C2-C3 subluxation, Carpal synostosis, Cataract, Cervical kyphosis, Cervical segmentation defect, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Club-shaped proximal femur, Clubbing, Conductive hearing impairment, Corneal opacity, Coronal cleft vertebrae, Cryptorchidism, Delayed skeletal maturation, Depressed nasal bridge, Dislocated wrist, Disproportionate short-trunk short stature, Distal tapering femur, Elbow dislocation, Encephalocele, Epiphyseal dysplasia, Fibular aplasia, Finger syndactyly, Flat acetabular roof, Flat face, Frontal bossing, Fused cervical vertebrae, Growth hormone deficiency, Hip dislocation, Hitchhiker thumb, Horizontal sacrum, Hydrops fetalis, Hyperlordosis, Hypertelorism, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Hypoplastic cervical vertebrae, Hypoplastic iliac body, Hypoplastic nasal septum, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Knee dislocation, Large joint dislocations, Laryngeal stenosis, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Mixed hearing impairment, Multinucleated giant chondrocytes in epiphyseal cartilage, Multiple carpal ossification centers, Narrow chest, Neonatal death, Omphalocele, Pectus carinatum, Pectus excavatum, Pes planus, Polyhydramnios, Poorly ossified vertebrae, Preauricular skin tag, Premature birth, Prominent forehead, Prominent occiput, Proptosis, Radial bowing, Rarefaction of retinal pigmentation, Renal cyst, Restrictive ventilatory defect, Rhizomelia, Sandal gap, Scoliosis, Severe short stature, Severe short-limb dwarfism, Shallow orbits, Short distal phalanx of finger, Short femur, Short humerus, Short metacarpal, Short metatarsal, Short nail, Short neck, Short nose, Short stature, Spatulate thumbs, Spina bifida occulta, Spinal cord compression, Spondylolysis, Sporadic, Stillbirth, Talipes equinovalgus, Talipes equinovarus, Tarsal synostosis, Thoracic platyspondyly, Tibial bowing, Tombstone-shaped proximal phalanges, Tracheal stenosis, Tracheomalacia, Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Widened distal phalanges
IPC-nEN3	ZC3H15	0.371923086	0.008756332	DNA binding protein	BrainSpLMD|55854	
IPC-nEN3	SLC39A11	1.035892617	0.00885605	Membrane transport protein	BrainSpLMD|201266	SFARI||Autism, No category;OMIM|616508
IPC-nEN3	RPL24P8	0.478027038	0.008873837			
IPC-nEN3	PON2	0.374220142	0.008970706	Enzyme: Esterase	BrainSpLMD|5445	OMIM|602447;HPO|5445|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
IPC-nEN3	RP11.234A1.1	0.397265196	0.009044276			
IPC-nEN3	RPL36	0.581247379	0.0091238	Ribosomal subunit	BrainSpLMD|25873	
IPC-nEN3	FANCF	1.118706596	0.009230951	DNA binding protein	BrainSpLMD|2188	OMIM|613897;COSMIC||AML, leukaemia;HPO|2188|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bone marrow hypocellularity, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
IPC-nEN3	RP11.466H18.1	0.330717881	0.00934762			
IPC-nEN3	EIF3E	0.311564955	0.009433447	Translation regulatory protein	BrainSpLMD|3646	OMIM|602210;COSMIC||colorectal
IPC-nEN3	MEX3A	0.311917791	0.009507056	RNA binding protein	Eurexp|euxassay_010898|neural retina, olfactory, vomeronasal organ	OMIM|611007
IPC-nEN3	CHMP2A	0.826067786	0.009523059	Transport/cargo protein	BrainSpLMD|27243;Eurexp|euxassay_001955|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, olfactory, pancreas, rectum, spinal cord, thoracic, thymus primordium, trigeminal V, urethra, vibrissa	OMIM|610893
IPC-nEN3	SMAD9	1.116172585	0.009548235	Transcription factor;Unclassified	BrainSpLMD|4093;BrainSpMouseDev|35279	OMIM|603295;HPO|4093|Autosomal dominant inheritance, Incomplete penetrance, Increased pulmonary vascular resistance, Progressive, Pulmonary arterial hypertension
IPC-nEN3	PDCD5	0.596413291	0.009587136	Unclassified	BrainSpLMD|9141	OMIM|604583
IPC-nEN3	PAK3	0.517709402	0.009597425	Serine/threonine kinase	BrainSpLMD|5063	OMIM|300142;HPO|5063|Aggressive behavior, Agitation, Anteverted nares, Anxiety, Delayed gross motor development, Delayed speech and language development, Drooling, Flat face, High palate, Hyperactivity, Intellectual disability, Macrotia, Microcephaly, Open mouth, Psychosis, Seizures, Short attention span, Short nose, Thin upper lip vermilion, Variable expressivity, X-linked recessive inheritance
IPC-nEN3	CDK2AP1	0.971537807	0.009659397	Unclassified	BrainSpLMD|8099	OMIM|602198
IPC-nEN3	H3F3C	0.466298301	0.009724865	Unclassified		OMIM|616134
IPC-nEN3	STAM	1.105144938	0.009793881	Adapter molecule	BrainSpLMD|8027	OMIM|601899
IPC-nEN3	DPF2	0.728622463	0.00987862	DNA binding protein	BrainSpLMD|5977;BrainSpMouseDev|19471	OMIM|601671
nIN1	LHX6	2.03418193	0	Transcription factor	BrainSpLMD|26468;BrainSpMouseDev|16645	OMIM|608215
nIN1	PLS3	1.800745456	0	Structural protein	BrainSpLMD|5358	OMIM|300131;HPO|5358|Osteopenia, Osteoporosis, Vertebral compression fractures, X-linked dominant inheritance
nIN1	RP11.588P7.1	1.731198922	0			
nIN1	ARX	1.683716447	0	Transcription factor	BrainSpLMD|170302;Eurexp|euxassay_018148|floor plate, floorplate, mantle layer, mesenchyme, ovary, pancreas, paramesonephric duct, skeletal muscle, tarsus, ventricle, ventricular layer;BrainSpMouseDev|11665	SFARI||Autism, No category;OMIM|300382;HPO|170302|Abnormal hair pattern, Abnormality of skin morphology, Abnormality of the hip bone, Agenesis of corpus callosum, Ambiguous genitalia, Broad alveolar ridges, Choreoathetosis, Coarse facial features, Cryptorchidism, Death in infancy, Decreased testicular size, Delayed speech and language development, Developmental regression, Diarrhea, Duane anomaly, Dysarthria, Dysphagia, Dyspnea, Dystonia, EEG abnormality, Epileptic encephalopathy, Feeding difficulties in infancy, Flexion contracture, Focal dystonia, Generalized hirsutism, Generalized hypotonia, Generalized myoclonic seizures, Gliosis, Global developmental delay, Hemiplegia, High forehead, High palate, Hirsutism, Hyperconvex nail, Hyperreflexia, Hypohidrosis, Hypoplasia of penis, Hypospadias, Hypsarrhythmia, Infantile spasms, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Large eyes, Limb dystonia, Limb joint contracture, Lissencephaly, Long philtrum, Long upper lip, Low anterior hairline, Low-set ears, Lower limb spasticity, Malabsorption, Microcephaly, Micrognathia, Micropenis, Muscle stiffness, Muscular hypotonia, Muscular hypotonia of the trunk, Myoclonus, Neonatal hypotonia, Nystagmus, Optic atrophy, Overlapping toe, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Prominent supraorbital ridges, Protruding ear, Renal dysplasia, Rigidity, Scoliosis, Seizures, Severe global developmental delay, Short stature, Spastic tetraplegia, Spasticity, Specific learning disability, Status epilepticus, Strabismus, Synophrys, Tapered finger, Tetraplegia, Thin upper lip vermilion, Triangular face, Ventriculomegaly, Visual impairment, Wide anterior fontanel, Wide nasal bridge, X-linked inheritance, X-linked recessive inheritance
nIN1	GAD1	1.665670184	0	Enzyme: Decarboxylase	BrainSpLMD|2571;Eurexp|euxassay_005634|cerebral cortex, corpus striatum, hindbrain, incisor, mantle layer, marginal layer, molar, olfactory lobe, oral region, spinal cord, telencephalon;BrainSpMouseDev|14191	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605363;HPO|2571|Autosomal recessive inheritance, Babinski sign, Cerebral palsy, Flexion contracture, Global developmental delay, Heterogeneous, Hyperreflexia, Infantile onset, Intellectual disability, Microcephaly, Scoliosis, Seizures, Spastic diplegia, Spastic tetraplegia
nIN1	TMEM123	1.642478482	0	Cell surface receptor	BrainSpLMD|114908	OMIM|606356
nIN1	ZNF536	1.642016257	0	DNA binding protein	BrainSpLMD|9745;Eurexp|euxassay_015751|adrenal gland, bladder, brain, cochlea, dorsal root ganglion, forelimb, glossopharyngeal IX, hindgut, hindlimb, limb, loop, lung, mandible, medullary stroma, midgut, molar, oesophagus, olfactory, penis, pituitary, rectum, retina, spinal cord, stomach, thyroid, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	
nIN1	DLX6	1.64172643	0	Transcription factor	BrainSpLMD|1750;BrainSpMouseDev|13175	SFARI||Autism, 4 - Minimal evidence;OMIM|600030;HPO|1750|Finger syndactyly, Oligodactyly
nIN1	SOX6	1.585512291	0	Transcription factor	BrainSpLMD|55553;BrainSpMouseDev|20441	OMIM|607257
nIN1	NRXN3	1.467459937	0	Adhesion molecule	BrainSpLMD|9369;Eurexp|euxassay_009777|bladder, collecting ducts, inner ear, mantle layer, marginal layer, neural retina, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|600567
nIN1	DLX6.AS1	1.459051006	0			
nIN1	RBP1	1.321942719	0	Transport/cargo protein	BrainSpLMD|5947;Eurexp|euxassay_003315|brain, corpus striatum, forelimb, hindbrain, hindlimb, mantle layer, midgut, olfactory lobe, telencephalon, turbinate bones	OMIM|180260
nIN1	DLX1	1.189802721	0	Transcription factor	BrainSpLMD|1745;Eurexp|euxassay_008426|cochlea, epithelium, footplate, handplate, incisor, inner ear, mantle layer, midgut, naso-lacrimal duct, neural retina, oesophagus, paraxial mesenchyme, retina, skeletal muscle, skeleton, stomach, utricle, vibrissa;BrainSpMouseDev|13169	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600029
nIN1	DLX5	1.17197243	0	Transcription regulatory protein	BrainSpLMD|1749;BrainSpMouseDev|13174	OMIM|600028;HPO|1749|Autosomal recessive inheritance, Finger syndactyly, Oligodactyly, Sensorineural hearing impairment, Split foot, Split hand
nIN1	ZSWIM5	1.159905922	0	Unclassified		SFARI||Autism, 6 - Evidence does not support role
nIN1	DLX2	1.043245103	0	Transcription factor	BrainSpLMD|1746;BrainSpMouseDev|13171	SFARI||Autism, 4 - Minimal evidence;OMIM|126255
nIN1	DCX	0.943390424	0	Cytoskeletal associated protein	BrainSpLMD|1641;Eurexp|euxassay_018537|brain, capsule, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|12973	SFARI||Autism, No category;OMIM|300121;HPO|1641|Agenesis of corpus callosum, Ataxia, Death in infancy, Dysarthria, Feeding difficulties, Hypertonia, Incomplete penetrance, Infantile onset, Intellectual disability, Intellectual disability, severe, Lissencephaly, Micropenis, Motor delay, Muscular hypotonia, Muscular hypotonia of the trunk, Nystagmus, Pachygyria, Postnatal growth retardation, Seizures, X-linked inheritance
nIN1	ERBB4	0.848386599	0	Receptor tyrosine kinase	BrainSpLMD|2066;Eurexp|euxassay_008088|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|13647	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600543;COSMIC||melanoma, gastric, NSCLC, Amyotrophic lateral sclerosis 19;HPO|2066|Adult onset, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Loss of ability to walk, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Xerostomia
nIN1	SOX4	0.660242019	0	Transcription factor	BrainSpLMD|6659;Eurexp|euxassay_019583|cervical, cervico-thoracic, dorsal grey horn, dorsal root ganglion, incisor, lung, mantle layer, mesenchyme, metanephros, molar, neural retina, oesophagus, phalanx, submandibular gland primordium, testis, trachea, valve, vibrissa;BrainSpMouseDev|20439	OMIM|184430
nIN1	SOX11	0.539188551	0	Transcription factor	BrainSpLMD|6664;BrainSpMouseDev|20428	OMIM|600898;HPO|6664|Abnormal facial shape, Abnormality of cardiovascular system morphology, Abnormality of the columella, Abnormality of the dentition, Abnormality of the nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Autosomal dominant inheritance, Clinodactyly, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Everted lower lip vermilion, Feeding difficulties in infancy, Full cheeks, Generalized hirsutism, Global developmental delay, Hearing impairment, Highly arched eyebrow, Hypertrichosis, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Long nose, Low-set ears, Microcephaly, Midface retrusion, Muscular hypotonia, Nystagmus, Open mouth, Posteriorly rotated ears, Recurrent respiratory infections, Scoliosis, Seizures, Short chin, Short distal phalanx of finger, Short nose, Short palpebral fissure, Short philtrum, Short stature, Slow-growing hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick vermilion border, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Wide mouth, Wide nasal bridge
nIN1	MALAT1	0.279830918	0		BrainSpLMD|378938	OMIM|607924;COSMIC||renal cell carcinoma (childhood epithelioid), lung
nIN1	SP9	2.26899596	1.11E-16		BrainSpLMD|100131390;BrainSpMouseDev|120188	
nIN1	PDZRN4	1.456477756	2.22E-16	Unclassified	BrainSpLMD|29951;Eurexp|euxassay_013149|axial skeleton, basioccipital bone, femur, fibula, humerus, mantle layer, phalanx, rib, scapula, tibia	OMIM|609730
nIN1	FAM65B	1.156653509	1.11E-15			
nIN1	GRIA4	1.841005305	1.67E-15	Extracellular ligand gated channel	BrainSpLMD|2893;Eurexp|euxassay_006297|bladder, brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, ductus deferens, facial VII, incisor, loop, medulla, metanephros, molar, neural retina, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|14578	OMIM|138246
nIN1	PFN2	1.272241248	4.44E-15	Structural protein	BrainSpLMD|5217;Eurexp|euxassay_002518|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|176590
nIN1	SOX2.OT	0.644977001	2.52E-14			
nIN1	ST8SIA5	1.159824599	3.54E-14	Enzyme: Sialyltransferase	BrainSpLMD|29906	OMIM|607162
nIN1	RUNX1T1	0.798639137	4.31E-14	Transcription regulatory protein	BrainSpLMD|862;Eurexp|euxassay_016597|dorsal grey horn, mantle layer;BrainSpMouseDev|12180	OMIM|133435;COSMIC||AML
nIN1	ADAMTS5	1.342121559	5.21E-14	Metallo protease	BrainSpLMD|11096	OMIM|605007
nIN1	TMEM2	1.060186734	1.70E-13	Integral membrane protein	BrainSpLMD|23670	OMIM|605835
nIN1	SOX1	1.292668558	4.60E-13	Transcription factor	BrainSpLMD|6656;Eurexp|euxassay_019565|ventral grey horn, ventricular layer	OMIM|602148
nIN1	MEG3	0.910122728	7.14E-13			OMIM|605636
nIN1	EFNA5	1.142243677	1.74E-12	Ligand	BrainSpLMD|1946;BrainSpMouseDev|13418	OMIM|601535
nIN1	TCF4	0.322629098	2.75E-12	Transcription factor	BrainSpLMD|6925;BrainSpMouseDev|21174	SFARI||Autism, No category;OMIM|602272;HPO|6925|Abnormal large intestine physiology, Abnormality of the palate, Absent speech, Aggressive behavior, Anteverted nares, Aphasia, Ascites, Astigmatism, Ataxia, Autoimmunity, Autosomal dominant inheritance, Cirrhosis, Clinodactyly, Clubbing, Coarse facial features, Constipation, Cryptorchidism, Cupped ear, Deeply set eye, Dilated superficial abdominal veins, Dysautonomia, Dysphasia, Echolalia, Elevated alkaline phosphatase of hepatic origin, Elevated hepatic transaminases, Encephalopathy, Esophagitis, Failure of eruption of permanent teeth, Failure to thrive, Feeding difficulties, Fever, Full cheeks, Gait ataxia, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Hepatosplenomegaly, Hiatus hernia, Hypoplasia of the corpus callosum, Incoordination, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intermittent hyperventilation, Microcephaly, Micropenis, Misalignment of teeth, Motor delay, Muscular hypotonia, Mutism, Myopia, Narrow foot, Narrow forehead, Open mouth, Palmar telangiectasia, Pes planus, Pes valgus, Portal hypertension, Seizures, Short neck, Short philtrum, Single transverse palmar crease, Sleep apnea, Specific learning disability, Spider hemangioma, Splenomegaly, Strabismus, Tapered finger, Thick vermilion border, Thickened helices, Ulcerative colitis, Upslanted palpebral fissure, Weight loss, Wide mouth, Wide nasal bridge, Widely spaced teeth
nIN1	TUSC7	2.173180355	3.97E-12			OMIM|616057
nIN1	RP11.588P7.2	2.050866113	4.62E-12			
nIN1	AC240274.1	1.362903541	4.79E-12			
nIN1	BCL11B	0.796149758	1.73E-11	Transcription regulatory protein;DNA binding protein	BrainSpLMD|64919;BrainSpMouseDev|37240	OMIM|606558;COSMIC||T-ALL;HPO|64919|Absent speech, Autosomal dominant inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hirsutism, Hypertelorism, Inflammatory abnormality of the skin, Intellectual disability, Micrognathia, Natal tooth, Pulmonary artery stenosis, Seizures, Severe combined immunodeficiency, Short palpebral fissure, Spastic tetraplegia, Umbilical hernia, Wormian bones
nIN1	BCL11A	0.57825983	4.02E-11	DNA binding protein	BrainSpLMD|53335;Eurexp|euxassay_007892|dorsal grey horn, incisor, naris, olfactory, pharyngo-tympanic tube, submandibular gland primordium, vibrissa;BrainSpMouseDev|13802	SFARI||Autism, 2 - Strong candidate;OMIM|606557;COSMIC||B-CLL;HPO|53335|Autosomal dominant inheritance, Congenital onset, Cupped ear, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, Global developmental delay, Intellectual disability, Joint hypermobility, Low-set ears, Microcephaly, Midface retrusion, Overfolded helix, Retrognathia, Strabismus, Thin upper lip vermilion
nIN1	DCLK2	0.971970776	5.39E-11	Serine/threonine kinase	BrainSpLMD|166614;Eurexp|euxassay_009796|associated mesenchyme, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nasal cavity, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613166
nIN1	DACH2	2.071689234	8.66E-11	Transcription factor;Cell cycle control protein	BrainSpLMD|117154;Eurexp|euxassay_009795|basal columns, bladder, ear, mantle layer, marginal layer, medullary stroma, renal/urinary system, tegmentum, urachus;BrainSpMouseDev|60489	OMIM|300608
nIN1	PLXNA4	1.340198058	1.71E-10	Unclassified	BrainSpLMD|91584;Eurexp|euxassay_009720|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X;BrainSpMouseDev|89119	SFARI||Autism, 3 - Suggestive evidence;OMIM|604280
nIN1	STXBP5L	1.488006922	8.60E-10	Transport/cargo protein	Eurexp|euxassay_011926|mantle layer	OMIM|609381
nIN1	RNU6.1200P	2.082839421	1.96E-09			
nIN1	SIAH3	1.918377661	2.36E-09	Unclassified	BrainSpLMD|283514	OMIM|615609
nIN1	ST8SIA4	1.214327594	2.81E-09	Enzyme: Sialyltransferase	BrainSpLMD|7903;Eurexp|euxassay_007776|brain, dorsal root ganglion, left lung, mesenchyme, neural retina, olfactory, organ system, right lung, spinal cord, trigeminal V	OMIM|602547
nIN1	TIAM1	1.869401117	4.22E-09	Guanine nucleotide exchange factor	BrainSpLMD|7074;Eurexp|euxassay_006321|epidermis, incisor, molar, naris, olfactory, submandibular gland primordium, thymus primordium, vibrissa;BrainSpMouseDev|21603	OMIM|600687
nIN1	BEST3	2.191619648	4.37E-09	Integral membrane protein	BrainSpLMD|144453	OMIM|607337
nIN1	MTRNR2L10	0.461784559	6.54E-09			
nIN1	NKX2.1	1.716201765	6.79E-09			
nIN1	MT.RNR1	0.653176956	8.60E-09			
nIN1	RP11.768G7.2	2.275820394	9.56E-09			
nIN1	CRB1	1.367883154	1.16E-08	Unclassified	BrainSpLMD|23418	OMIM|604210;HPO|23418|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Encephalocele, Esotropia, Glaucoma, Hemiplegia/hemiparesis, High-grade hypermetropia, Hyperinsulinemia, Hypermetropia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Muscular hypotonia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paravenous chorioretinal atrophy, Pendular nystagmus, Photophobia, Progressive night blindness, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe visual impairment, Undetectable electroretinogram, Visual impairment, Vitreoretinal degeneration, Wide nasal bridge
nIN1	LSAMP	1.024151601	1.42E-08	Adhesion molecule	BrainSpLMD|4045	OMIM|603241
nIN1	ACTG1	0.286142558	1.92E-08	Structural protein	BrainSpLMD|71	OMIM|102560;HPO|71|Abnormality of the pinna, Aphasia, Autosomal dominant inheritance, Bilateral sensorineural hearing impairment, Cerebral cortical hemiatrophy, Coarse facial features, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Dysphasia, Echolalia, Epicanthus, Euryblepharon, Failure to thrive, Feeding difficulties, Full cheeks, Global developmental delay, Growth delay, Heterochromia iridis, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypertelorism, Intellectual disability, Iris coloboma, Joint stiffness, Large fontanelles, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Low posterior hairline, Macrogyria, Microcephaly, Micrognathia, Mutism, Osteochondrosis, Pachygyria, Pointed chin, Polymicrogyria, Progressive sensorineural hearing impairment, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Seizures, Short columella, Short neck, Skeletal dysplasia, Specific learning disability, Subcortical cerebral atrophy, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Trigonocephaly, Wide mouth, Wide nasal bridge, Wide nose, Young adult onset
nIN1	MTRNR2L1	0.451620143	3.12E-08			OMIM|616985
nIN1	CHD7	0.829146101	3.83E-08	DNA binding protein	Eurexp|euxassay_010758|marginal layer, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|608892;HPO|55636|Abnormality of body height, Abnormality of female internal genitalia, Abnormality of lymphocytes, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Alopecia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bifid scrotum, Breast hypoplasia, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Desquamation of skin soon after birth, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysphagia, Edema, Eosinophilia, Erectile abnormalities, Erythroderma, Esophageal atresia, Eunuchoid habitus, External ear malformation, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Female hypogonadism, Fever, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Hepatomegaly, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphopenia, Malar flattening, Male hypogonadism, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Non-obstructive azoospermia, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Pneumonia, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Secondary amenorrhea, Sensorineural hearing impairment, Severe combined immunodeficiency, Sparse body hair, Splenomegaly, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Thickened skin, Tracheoesophageal fistula, Umbilical hernia, Ventricular septal defect, Wide intermamillary distance
nIN1	PDZRN3	0.382336644	3.98E-08	Unclassified	BrainSpLMD|23024;Eurexp|euxassay_000356|mantle layer	OMIM|609729
nIN1	RP11.384F7.2	1.210778924	5.12E-08			
nIN1	FNDC5	2.031089225	6.65E-08	Adhesion molecule	BrainSpLMD|252995;Eurexp|euxassay_011781|skeletal muscle	OMIM|611906
nIN1	SACS	1.477389133	1.13E-07	Unclassified	BrainSpLMD|26278;Eurexp|euxassay_014163|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|604490;HPO|26278|Absent Achilles reflex, Autosomal recessive inheritance, Babinski sign, Cerebellar vermis atrophy, Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Dysmetria, Falls, Hammertoe, Hypermyelinated retinal nerve fibers, Hyperreflexia, Impaired smooth pursuit, Impaired vibration sensation in the lower limbs, Infantile onset, Intellectual disability, Loss of Purkinje cells in the cerebellar vermis, Nystagmus, Pes cavus, Progressive gait ataxia, Progressive truncal ataxia, Scanning speech, Spastic ataxia, Spasticity, Swan neck-like deformities of the fingers, Urinary urgency
nIN1	SLAIN1	1.037447729	1.44E-07	Unclassified	BrainSpLMD|122060	OMIM|610491
nIN1	MARCKS	0.346132744	1.47E-07	Cytoskeletal protein	BrainSpLMD|4082	OMIM|177061
nIN1	ARL4D	1.199414366	1.71E-07	GTPase	BrainSpLMD|379	OMIM|600732
nIN1	RND3	0.889381257	2.23E-07	G protein	BrainSpLMD|390	OMIM|602924
nIN1	CCDC88A	0.915624524	2.48E-07	Cytoskeletal protein	BrainSpLMD|55704;Eurexp|euxassay_012890|mantle layer, ventral grey horn	OMIM|609736;HPO|55704|Abnormality of the hand, Autosomal recessive inheritance, Cerebellar atrophy, Developmental stagnation, Edema, Epicanthus, Feeding difficulties in infancy, Full cheeks, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile encephalopathy, Intellectual disability, profound, Myoclonus, Narrow forehead, Neuronal loss in central nervous system, Open mouth, Optic atrophy, Pachygyria, Peripheral dysmyelination, Polymicrogyria, Progressive microcephaly, Retrognathia, Seizures, Severe muscular hypotonia, Short nose, Tented upper lip vermilion, Undetectable visual evoked potentials
nIN1	DOCK11	1.441967524	2.75E-07	Unclassified	BrainSpLMD|139818	OMIM|300681
nIN1	MYO1B	0.889226295	3.19E-07	Motor protein	BrainSpLMD|4430;Eurexp|euxassay_006192|mantle layer, olfactory, ventricular layer	OMIM|606537
nIN1	RP11.26H16.1	0.507614147	3.81E-07			
nIN1	TET2	0.966652588	4.47E-07	Unclassified	BrainSpLMD|54790	SFARI||Autism, No category;OMIM|612839;COSMIC||MDS;HPO|54790|Abdominal pain, Abnormal platelet morphology, Acute leukemia, Amaurosis fugax, Angina pectoris, Arterial thrombosis, Arthralgia, Bruising susceptibility, Chest pain, Epistaxis, Fatigue, Gingival bleeding, Headache, Hepatomegaly, Increased megakaryocyte count, Myelodysplasia, Myelofibrosis, Myocardial infarction, Paresthesia, Prolonged bleeding time, Respiratory insufficiency, Somatic mutation, Splenomegaly, Tinnitus, Transient ischemic attack, Venous thrombosis, Vertigo, Weight loss
nIN1	BRINP2	0.894798061	4.60E-07	Unclassified	BrainSpLMD|57795	
nIN1	DGKB	1.791357913	5.80E-07	Lipid Kinase	BrainSpLMD|1607;Eurexp|euxassay_009581|anterior abdominal wall, mantle layer, ventricular layer	OMIM|604070
nIN1	ZEB2	0.506099857	1.16E-06	Transcription regulatory protein	BrainSpLMD|9839;Eurexp|euxassay_005774|bladder, dorsal grey horn, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, lung, mantle layer, metanephros, midgut, nasal septum, penis, pharyngo-tympanic tube, stomach;BrainSpMouseDev|23887	OMIM|605802;HPO|9839|Abdominal distention, Abnormality of metabolism/homeostasis, Abnormality of the abdominal wall, Abnormality of the rib cage, Absent speech, Atrial septal defect, Autosomal dominant inheritance, Broad eyebrow, Delayed eruption of teeth, Drooling, Generalized hypotonia, Happy demeanor, Hypoplasia of the corpus callosum, Intellectual disability, moderate, Motor delay, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pulmonary artery sling, Pulmonary artery stenosis, Pulmonic stenosis, Supernumerary nipple, Ventricular septal defect, Vomiting, Widely spaced teeth
nIN1	ELF2	1.249706502	1.93E-06	Transcription factor	BrainSpLMD|1998;BrainSpMouseDev|45099	
nIN1	CADPS	1.025742883	4.82E-06	Membrane transport protein	BrainSpLMD|8618;Eurexp|euxassay_006311|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral wall, mantle layer, meninges, neural retina, olfactory, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|604667
nIN1	PSMG2	0.402409224	5.28E-06	Cell cycle control protein	BrainSpLMD|56984	OMIM|609702
nIN1	PDE4DIP	0.622741572	8.29E-06	Transport/cargo protein	BrainSpLMD|9659;Eurexp|euxassay_015920|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|608117;COSMIC||MPN
nIN1	MAP9	1.055609768	9.42E-06	Unclassified	BrainSpLMD|79884	OMIM|610070
nIN1	RP11.101E13.5	0.257291779	1.44E-05			
nIN1	RC3H2	0.320321126	1.52E-05	DNA binding protein	BrainSpLMD|54542	OMIM|615231
nIN1	PDGFD	1.09877315	1.52E-05	Growth factor	BrainSpLMD|80310;BrainSpMouseDev|47626	OMIM|609673
nIN1	MAF	0.764247728	1.55E-05	Transcription factor	BrainSpLMD|4094;Eurexp|euxassay_015869|choroid plexus, dorsal grey horn, facial VII, incisor, lens, mandible, mantle layer, maxilla, metanephros, molar, nasal septum, rib, trigeminal V, ventricular layer;BrainSpMouseDev|16902	OMIM|177075;COSMIC||MM;HPO|4094|Autosomal dominant inheritance, Brachycephaly, Broad eyebrow, Broad philtrum, Cataract, Cerulean cataract, Congenital cataract, Cortical pulverulent cataract, Depressed nasal bridge, Flat face, High forehead, Hypertelorism, Intellectual disability, Iris coloboma, Long philtrum, Low-set ears, Malar flattening, Microcornea, Midface retrusion, Myopia, Narrow mouth, Ptosis, Radioulnar synostosis, Seizures, Sensorineural hearing impairment, Short nose, Short stature, Smooth philtrum, Thin upper lip vermilion, Wide nasal bridge
nIN1	SKP1P1	0.64993629	1.93E-05			
nIN1	RNU6.6P	0.703419387	2.06E-05			
nIN1	NBPF1	0.886493013	2.24E-05	Unclassified		OMIM|610501
nIN1	TIMM13	0.259209687	2.35E-05	Transport/cargo protein	BrainSpLMD|26517	OMIM|607383
nIN1	KLHL13	1.576838789	2.62E-05	Cytoskeletal associated protein	BrainSpLMD|90293;Eurexp|euxassay_010975|diaphragm, footplate, handplate, mantle layer, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, vertebral axis muscle system	OMIM|300655
nIN1	ZC3H8	0.641672562	2.63E-05	Unclassified	BrainSpLMD|84524	
nIN1	NAV3	0.865521023	2.67E-05	Unclassified	BrainSpLMD|89795	OMIM|611629
nIN1	MIAT	0.409820671	3.46E-05			OMIM|611082
nIN1	TPGS2	0.892066161	3.82E-05	Unclassified	BrainSpLMD|25941;Eurexp|euxassay_005064|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, molar, neural retina, olfactory, respiratory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	
nIN1	GAD2	0.865230531	4.45E-05	Enzyme: Decarboxylase	BrainSpLMD|2572;Eurexp|euxassay_001769|dorsal grey horn, lateral ventricle, mantle layer;BrainSpMouseDev|14193	OMIM|138275
nIN1	MOB3B	1.718937817	4.56E-05	Unclassified	BrainSpLMD|79817;Eurexp|euxassay_011555|incisor, molar	OMIM|617652
nIN1	DIMT1	1.189051461	4.94E-05	Unclassified	BrainSpLMD|27292;Eurexp|euxassay_001602|ventricular layer	OMIM|612499
nIN1	SYF2	0.443098516	5.31E-05	Unclassified	BrainSpLMD|25949	OMIM|607090
nIN1	DDOST	0.549908195	7.43E-05	Enzyme: Galactosyltransferase	BrainSpLMD|1650	OMIM|602202;HPO|1650|Abnormality of the coagulation cascade, Accelerated skeletal maturation, Autosomal recessive inheritance, CNS hypomyelination, Constipation, Decreased liver function, Elevated hepatic transaminases, Esotropia, Failure to thrive, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Infantile onset, Neurodevelopmental delay, Neurological speech impairment, Oromotor apraxia, Osteopenia, Recurrent ear infections, Seizures, Short stature, Strabismus, Tremor, Type I transferrin isoform profile
nIN1	CH17.472G23.1	0.853849348	7.44E-05			
nIN1	DPYSL3	0.404773128	8.54E-05	Enzyme: Hydrolase	BrainSpLMD|1809;Eurexp|euxassay_010399|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, midbrain, midgut, neural retina, olfactory, stomach, telencephalon, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|601168
nIN1	CTC.575D19.1	0.661251888	8.77E-05			
nIN1	TRAM1	0.374548723	9.46E-05	Membrane transport protein	BrainSpLMD|23471	OMIM|605190
nIN1	POU3F4	1.126789646	9.73E-05	Transcription factor	BrainSpLMD|5456;BrainSpMouseDev|18757	OMIM|300039;HPO|5456|Conductive hearing impairment, Dilatated internal auditory canal, Progressive sensorineural hearing impairment, Stapes ankylosis, X-linked recessive inheritance
nIN1	PHF21B	1.107776188	9.97E-05	DNA binding protein	BrainSpLMD|112885;Eurexp|euxassay_008948|brain, spinal cord	OMIM|616727
nIN1	ELAVL2	1.136221276	0.000104248	RNA binding protein	BrainSpLMD|1993;Eurexp|euxassay_005246|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, oesophagus, olfactory, pharynx, respiratory, retina, spinal cord, stomach, testis, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|601673
nIN1	AC016708.2	0.640923703	0.000110987			
nIN1	EHBP1	0.620800659	0.000113574	Unclassified	BrainSpLMD|23301	OMIM|609922
nIN1	RAB3IP	0.465419665	0.000130857	Guanine nucleotide exchange factor;Unclassified	BrainSpLMD|117177;Eurexp|euxassay_007883|calyces, hindgut, loop, stomach	OMIM|608686
nIN1	DST	0.616098037	0.000136861	Cytoskeletal associated protein	BrainSpLMD|667;Eurexp|euxassay_016245|incisor, molar, oesophagus, olfactory, oral epithelium, stomach, urethra, vibrissa;BrainSpMouseDev|13297	SFARI||Autism, 4 - Minimal evidence;OMIM|113810;HPO|667|Alacrima, Apnea, Areflexia, Atrophic scars, Autosomal recessive inheritance, Blotching pigmentation of the skin, Bradycardia, Corneal scarring, Feeding difficulties, Fever, Flexion contracture, Growth delay, Hand clenching, Hyperhidrosis, Limited hip extension, Neonatal hypotonia, Open mouth, Respiratory insufficiency, Sensory neuropathy, Tachycardia, Talipes equinovarus
nIN1	SENP7	1.103753237	0.00014888	Protease	BrainSpLMD|57337	OMIM|612846
nIN1	NCOA4	0.307158355	0.000162345	Transcription regulatory protein	BrainSpLMD|8031	OMIM|601984;COSMIC||papillary thyroid;HPO|8031|Autosomal dominant inheritance, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma
nIN1	CBX3	0.259534977	0.000175204	DNA binding protein	BrainSpLMD|11335	OMIM|604477
nIN1	CCNE2	1.566419757	0.000197395	Cell cycle control protein	BrainSpLMD|9134	OMIM|603775
nIN1	KCNH8	1.090092488	0.000214114	Voltage gated channel	BrainSpLMD|131096	OMIM|608260
nIN1	XIST	0.986270663	0.000217379			OMIM|314670;HPO|7503|Spontaneous abortion
nIN1	GLCCI1	0.910571624	0.000219787	Unclassified	BrainSpLMD|113263;Eurexp|euxassay_014439|axial skeleton, nasal septum, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|82074	OMIM|614283
nIN1	AC010729.1	1.281450612	0.000232501			
nIN1	LANCL1	0.910340517	0.000242284	G protein coupled receptor	BrainSpLMD|10314;Eurexp|euxassay_018256|facial VII, glossopharyngeal IX, mantle layer, olfactory, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|604155
nIN1	EIF1AX	0.287705078	0.000255674	Translation regulatory protein	BrainSpLMD|1964	OMIM|300186;COSMIC||uveal melanoma, thyroid cancer (PDTC and ATC), low grade serous ovarian cancer
nIN1	LRRC40	1.23079469	0.000323922	Unclassified	BrainSpLMD|55631	
nIN1	ALYREF	0.323279429	0.000326864	Chaperone	BrainSpLMD|10189	OMIM|604171
nIN1	RPL23A	0.341261774	0.000352003	RNA binding protein		OMIM|602326
nIN1	MT.TP	0.308944159	0.000363585			
nIN1	DAPK1	0.979932871	0.000394911	Serine/threonine kinase	BrainSpLMD|1612	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600831
nIN1	MAPK10	0.637986645	0.000421633	Serine/threonine kinase	BrainSpLMD|5602;Eurexp|euxassay_009977|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|26162	OMIM|602897;HPO|5602|Abnormality of brainstem morphology, Aggressive behavior, Atonic seizures, Atypical absence seizures, Autistic behavior, EEG with focal sharp slow waves, Encephalopathy, Falls, Generalized tonic seizures, Generalized tonic-clonic seizures, Hyperactivity, Intellectual disability, Mental deterioration, Myoclonus, Personality disorder
nIN1	SMARCE1	0.647693694	0.000466618	DNA binding protein	BrainSpLMD|6605;BrainSpMouseDev|36650	OMIM|603111;COSMIC||meningioma;HPO|6605|Abnormality of cardiovascular system morphology, Abnormality of the dentition, Absent speech, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Arachnodactyly, Atrial septal defect, Autosomal dominant inheritance, Cerebellar hypoplasia, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Dystrophic toenail, Elbow dislocation, Feeding difficulties, Feeding difficulties in infancy, Generalized hirsutism, Global developmental delay, Hearing impairment, Hypoplasia of the corpus callosum, Hypoplastic fifth fingernail, Hypoplastic toenails, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Low anterior hairline, Microcephaly, Muscular hypotonia, Nystagmus, Ptosis, Recurrent infections, Recurrent respiratory infections, Sandal gap, Scoliosis, Seizures, Short distal phalanx of finger, Short philtrum, Short stature, Slow-growing hair, Sparse scalp hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick nasal alae, Thin upper lip vermilion, Wide mouth, Wide nasal bridge, Wide nose
nIN1	HNRNPA1P48	0.35049073	0.000472351			
nIN1	CTD.3018O17.3	0.263279134	0.000486985			
nIN1	NPEPPS	0.296432277	0.000518846	Aminopeptidase	BrainSpLMD|9520;Eurexp|euxassay_011604|dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, midgut, neural retina, submandibular gland primordium, trigeminal V, urethra, vestibulocochlear VIII, vibrissa	OMIM|606793
nIN1	MEIS1	0.501219168	0.000526107	Transcription factor	BrainSpLMD|4211;Eurexp|euxassay_010373|cornea, epithelium, hindgut, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, respiratory, sublingual gland primordium, submandibular gland primordium, trachea, ventricular layer, vibrissa;BrainSpMouseDev|17037	OMIM|601739
nIN1	CTD.2017D11.1	1.307679075	0.000566029			
nIN1	RPS3AP6	0.399826783	0.000581087			
nIN1	CHMP1B	0.873486413	0.000586578	Transport/cargo protein	BrainSpLMD|57132	OMIM|606486
nIN1	KLF7	0.97155387	0.000595883	Transcription factor	BrainSpLMD|8609;Eurexp|euxassay_003485|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, respiratory, stroma, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII;BrainSpMouseDev|60343	OMIM|604865
nIN1	KIAA1958	1.373262335	0.000600222	Unclassified	Eurexp|euxassay_000143|neural retina	OMIM|617390
nIN1	EPHA4	0.982304745	0.000604468	Receptor tyrosine kinase	BrainSpLMD|2043;BrainSpMouseDev|13616	OMIM|602188;HPO|2043|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
nIN1	INA	0.66445856	0.000657442	Cytoskeletal protein	BrainSpLMD|9118;Eurexp|euxassay_012424|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|605338
nIN1	FAM214A	0.846871846	0.000663373	Unclassified	Eurexp|euxassay_003223|Meckel's cartilage, adrenal gland, incisor, mesenchyme, molar, pituitary, rib, testis	
nIN1	ANKRD17	0.273658561	0.000665748	Unclassified	BrainSpLMD|26057	OMIM|615929
nIN1	FLJ31306	0.300064968	0.000671531			
nIN1	CH17.472G23.4	0.7810244	0.000701441			
nIN1	VPS53	0.894473919	0.000749858	Unclassified	BrainSpLMD|55275	OMIM|615850;HPO|55275|Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Flexion contracture, Global developmental delay, Hypoplasia of the corpus callosum, Infantile onset, Intellectual disability, Intellectual disability, profound, Irritability, Microcephaly, Neonatal hypotonia, Opisthotonus, Osteoporosis, Progressive, Progressive microcephaly, Scoliosis, Seizures, Short stature, Spastic tetraplegia
nIN1	PDE4D	0.369693225	0.000763064	Enzyme: Phosphodiesterase	BrainSpLMD|5144	OMIM|600129;HPO|5144|Abnormal form of the vertebral bodies, Abnormality of female external genitalia, Abnormality of immune system physiology, Abnormality of the nail, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Anteverted nares, Autism, Autosomal dominant inheritance, Blue irides, Brachycephaly, Brachydactyly, Cerebral venous thrombosis, Cone-shaped epiphysis, Congenital craniofacial dysostosis, Congenital hypothyroidism, Congenital onset, Cryptorchidism, Delayed eruption of teeth, Delayed speech and language development, Depressed nasal bridge, Depressed nasal ridge, Diabetes mellitus, Elevated calcitonin, Elevated circulating parathyroid hormone level, Epiphyseal stippling, Fair hair, Global developmental delay, Growth hormone deficiency, Hearing impairment, Hyperactivity, Hyperphosphatemia, Hypertelorism, Hypocalcemia, Hypogonadism, Hypoplasia of the maxilla, Hypoplasia of the nasal bone, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic vertebral bodies, Hypospadias, Increased intracranial pressure, Intellectual disability, Intrauterine growth retardation, Malar flattening, Mandibular prognathia, Micromelia, Midface retrusion, Mild short stature, Narrow vertebral interpedicular distance, Obesity, Open mouth, Peripheral neuropathy, Pseudohypoparathyroidism, Red hair, Round face, Scoliosis, Short metacarpal, Short metatarsal, Short nose, Short phalanx of finger, Short stature, Short toe, Specific learning disability, Spinal canal stenosis, Wide nasal bridge
nIN1	RPL37P2	0.288776981	0.000799454			
nIN1	TOX	1.268146828	0.000865961	DNA binding protein	BrainSpLMD|9760;Eurexp|euxassay_006612|axial skeleton, cervical, cervico-thoracic, clavicle, cricoid, diencephalon, exoccipital bone, femur, hindbrain, inner ear, lip, lung, mandible, mantle layer, mesenchyme, metanephros, metatarsus, midbrain, nasal septum, neural retina, orbito-sphenoid, pelvic girdle, penis, phalanx, rib, scapula, stomach, telencephalon, thoracic, thymus primordium, thyroid, turbinate, vault of skull, vibrissa, vomeronasal organ;BrainSpMouseDev|89963	OMIM|606863
nIN1	RP11.864N7.2	0.502899874	0.000879334			
nIN1	EEF1B2P3	0.698683967	0.000888301			
nIN1	MT.TE	0.440594228	0.000916896			
nIN1	ZNF37A	0.395371913	0.000919163	DNA binding protein	BrainSpLMD|7587	OMIM|616085
nIN1	TSPYL4	0.376498018	0.000935982	Unclassified	BrainSpLMD|23270;Eurexp|euxassay_004360|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
nIN1	NUP88	0.515684713	0.00093614	Transport/cargo protein	BrainSpLMD|4927	OMIM|602552
nIN1	B4GALT5	0.437009237	0.000989914	Enzyme: Galactosyltransferase	BrainSpLMD|9334;Eurexp|euxassay_010321|basal columns, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, larynx, mantle layer, olfactory, stomach, trigeminal V, vagus X, valve	OMIM|604016
nIN1	TOX3	0.819109805	0.001070281	Unclassified	Eurexp|euxassay_006138|cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, pancreas, paraxial mesenchyme, penis, retina, stomach, stroma, tongue, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|89252	OMIM|611416
nIN1	ELAVL3	0.432393143	0.001092976	RNA binding protein	BrainSpLMD|1995	SFARI||Autism, 3 - Suggestive evidence;OMIM|603458
nIN1	HNRNPA1P4	0.473653526	0.001228752			
nIN1	CDCA7	0.661241571	0.001269116	Cell cycle control protein	BrainSpLMD|83879	OMIM|609937;HPO|83879|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Conductive hearing impairment, Cryptorchidism, Decreased antibody level in blood, Depressed nasal bridge, Flat face, Global developmental delay, Hypertelorism, Hypoplastic ischia, Hypospadias, Intellectual disability, Intrauterine growth retardation, Low-set ears, Lymphopenia, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Polydactyly, Recurrent respiratory infections, Short nose, Short stature, Strabismus
nIN1	BZW1P2	0.503460294	0.001289682			
nIN1	SRRM4	0.491584928	0.001423041	Unclassified	BrainSpLMD|84530	SFARI||Autism, 5 - Hypothesized but untested;OMIM|613103
nIN1	RPL30	0.256494101	0.001476853	Ribosomal subunit	BrainSpLMD|6156	OMIM|180467
nIN1	CD200	0.41280115	0.001483655	Cell surface receptor;Unclassified	BrainSpLMD|4345;Eurexp|euxassay_010522|anterior, aorta, basisphenoid bone, brain, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, mandible, maxilla, neural retina, orbito-sphenoid, radius, rib, scapula, spinal cord, thoracic, tibia, trigeminal V, turbinate bones, ulna, vagus X, vestibulocochlear VIII, vibrissa	OMIM|155970
nIN1	ATRNL1	0.550065821	0.001484299	Integral membrane protein	BrainSpLMD|26033	SFARI||Autism, 5 - Hypothesized but untested;OMIM|612869
nIN1	SOX2	0.369767816	0.001509392	Transcription factor	Eurexp|euxassay_019525|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lung, mantle layer, medulla, midgut, neural retina, oesophagus, olfactory, oral epithelium, pituitary, saccule, stomach, testis, trachea, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|20436	OMIM|184429;COSMIC||NSCLC, oesophageal squamous carcinoma, Microphthalmia and oesophageal atresia syndrome;HPO|6657|Agenesis of corpus callosum, Anophthalmia, Anterior pituitary hypoplasia, Autosomal dominant inheritance, Butterfly vertebrae, Cleft palate, Coloboma, Cryptorchidism, Esophageal atresia, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hemivertebrae, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypospadias, Hypothalamic hamartoma, Microcephaly, Micropenis, Microphthalmia, Missing ribs, Nystagmus, Optic nerve hypoplasia, Patent ductus arteriosus, Postnatal growth retardation, Rib fusion, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Short stature, Spastic diplegia, Spastic tetraplegia, Specific learning disability, Strabismus, Supernumerary ribs, Tracheoesophageal fistula, Ventricular septal defect, Vertebral fusion, Vertebral hypoplasia, Visual impairment, Visual loss
nIN1	METAP1D	0.990795282	0.001573045		BrainSpLMD|254042	OMIM|610267
nIN1	ZFAND5	0.376796064	0.001586361	DNA binding protein	BrainSpLMD|7763	OMIM|604761
nIN1	RPRD1B	0.392007535	0.00167038	Unclassified	BrainSpLMD|58490	OMIM|614694
nIN1	HNRNPA1	0.426066357	0.001671516	RNA binding protein	BrainSpLMD|3178	OMIM|164017;HPO|3178|Abnormality of the abdominal musculature, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dyspnea, Elevated alkaline phosphatase, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Limb-girdle muscular dystrophy, Mildly elevated creatine phosphokinase, Muscle cramps, Muscle fiber inclusion bodies, Muscular dystrophy, Myopathy, Neurodegeneration, Pain, Paralysis, Proximal muscle weakness, Respiratory failure, Rimmed vacuoles, Skeletal muscle atrophy, Spasticity, Xerostomia
nIN1	AC012358.8	1.279480984	0.001680778			
nIN1	ZBTB20	0.687747407	0.001728385	Transcription factor	BrainSpLMD|26137;BrainSpMouseDev|35770	SFARI||Autism, 3 - Suggestive evidence;OMIM|606025;HPO|26137|Abnormality of the palate, Absent axillary hair, Absent facial hair, Anemia, Anonychia, Autosomal dominant inheritance, Basilar impression, Bilateral cryptorchidism, Bone cyst, Brachycephaly, Broad forehead, Calcification of the auricular cartilage, Cataract, Conductive hearing impairment, Deeply set eye, Developmental regression, Distal amyotrophy, Downslanted palpebral fissures, Downturned corners of mouth, Gait disturbance, Generalized hypotonia, Generalized osteoporosis, Genu valgum, Gynecomastia, Hearing impairment, Hip contracture, Hydrocephalus, Hypogonadism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Increased size of the mandible, Intellectual disability, Irregular vertebral endplates, Knee flexion contracture, Kyphosis, Macrocephaly, Macrotia, Malar flattening, Metatarsus adductus, Midface retrusion, Myopathy, Narrow chest, Narrow iliac wings, Narrow mouth, Neurodegeneration, Osteolysis, Pectus excavatum, Pes cavus, Plagiocephaly, Posterior polar cataract, Posterior scalloping of vertebral bodies, Ptosis, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Sparse scalp hair, Sporadic, Superiorly displaced ears, Synophrys, Thick lower lip vermilion, Truncal obesity
nIN1	CNOT7	0.559407961	0.001887988	Transcription regulatory protein	BrainSpLMD|29883;Eurexp|euxassay_011947|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, brain, dorsal root ganglion, femur, humerus, nasal septum, orbito-sphenoid, petrous part, rib, scapula, spinal cord, turbinate bones	OMIM|604913
nIN1	ERO1LB	0.90930572	0.001888113			
nIN1	CDH2	0.515130189	0.001934507	Adhesion molecule	BrainSpLMD|1000;Eurexp|euxassay_003128|L1, L2, L3, L4, L5, Meckel's cartilage, annulus fibrosus, axial skeleton, basisphenoid bone, brain, cervical, cervico-thoracic, chondrocranium, cortex, cranium, dorsal root ganglion, epidermis, exoccipital bone, facial VII, foregut-midgut junction, forelimb, frontal bone primordium, glossopharyngeal IX, head mesenchyme, hindgut, hindlimb, incisor, leg, lip, lumbar region, mesenchyme, midgut, molar, neural retina, nucleus polposus, nucleus pulposus, olfactory, orbito-sphenoid, penis, pituitary, rib, sacral region, skin, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|12343	OMIM|114020
nIN1	ARMCX3	0.572397167	0.001952231	Unclassified	BrainSpLMD|51566;Eurexp|euxassay_007266|mandible, mantle layer, maxilla, tongue, ventral grey horn	OMIM|300364
nIN1	PSMA2	0.778525093	0.002001744	Ubiquitin proteasome system protein	BrainSpLMD|5683	OMIM|176842
nIN1	OCIAD1	0.464870153	0.002047118	Unclassified	BrainSpLMD|54940	
nIN1	PCDH17	0.741825041	0.00205087	Adhesion molecule	BrainSpLMD|27253	OMIM|611760
nIN1	FAM107B	0.978665056	0.002225561	Unclassified	BrainSpLMD|83641;Eurexp|euxassay_000675|thymus primordium	
nIN1	MIR181A1HG	1.160718488	0.002252004			
nIN1	RPS11P5	0.629706173	0.002392257			
nIN1	HIGD1A	0.372795343	0.002466137	Integral membrane protein		
nIN1	FNBP1L	0.715989474	0.002499606	Cytoskeletal protein	BrainSpLMD|54874;Eurexp|euxassay_007867|diencephalon, dorsal root ganglion, glossopharyngeal IX, hindbrain, midbrain, neural retina, pituitary, spinal cord, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608848
nIN1	DCAF7	0.280077957	0.002528417	Unclassified	BrainSpLMD|10238;BrainSpMouseDev|47674	OMIM|605973
nIN1	CCDC104	0.433699911	0.002560009			
nIN1	LINC00342	0.568570689	0.002605114			
nIN1	ANTXR1	1.429204598	0.002748242	Cell surface receptor	BrainSpLMD|84168	OMIM|606410;HPO|84168|Abnormal form of the vertebral bodies, Abnormality of metabolism/homeostasis, Abnormality of pelvic girdle bone morphology, Abnormality of the cerebral vasculature, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the palate, Alopecia, Anteverted nares, Autosomal recessive inheritance, Breast hypoplasia, Broad forehead, Delayed cranial suture closure, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Early balding, Everted lower lip vermilion, Frontal bossing, Glaucoma, Growth delay, High forehead, Hyperextensible skin, Hypertelorism, Hypoplastic nipples, Hypotrichosis, Joint hyperflexibility, Keratoconus, Long philtrum, Low-set ears, Mandibular prognathia, Micrognathia, Midface retrusion, Nystagmus, Optic atrophy, Palpebral edema, Prematurely aged appearance, Prominent scalp veins, Protruding ear, Short stature, Skin tags, Sparse and thin eyebrow, Sparse eyelashes, Thick lower lip vermilion, Thick nasal alae, Tubulointerstitial fibrosis, Umbilical hernia, Underdeveloped supraorbital ridges, Unerupted tooth, Visual impairment, Wide anterior fontanel
nIN1	ATF2	0.876094504	0.002792088	Transcription factor	BrainSpLMD|1386;BrainSpMouseDev|11696	OMIM|123811
nIN1	RIC8B	1.399130339	0.002845993	Guanine nucleotide exchange factor	BrainSpLMD|55188	OMIM|609147
nIN1	RPL21P75	0.429809038	0.00291598			
nIN1	RP1.182O16.1	0.336066491	0.002929409			
nIN1	HDAC9	0.507789247	0.002954937	Transcription regulatory protein	BrainSpLMD|9734	OMIM|606543
nIN1	BTG1	0.6644575	0.002982173	Cell cycle control protein	BrainSpLMD|694	OMIM|109580;COSMIC||B-CLL
nIN1	CSNK1E	0.502259583	0.003120007	Serine/threonine kinase	BrainSpLMD|1454;Eurexp|euxassay_018818|brain, cervical, cervico-thoracic, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|27118	OMIM|600863
nIN1	HIPK1	0.431600635	0.00322856	Serine/threonine kinase	BrainSpLMD|204851	OMIM|608003
nIN1	PLXNA2	0.779804169	0.003340898	Cell surface receptor	BrainSpLMD|5362;Eurexp|euxassay_010018|brain, spinal cord;BrainSpMouseDev|18609	OMIM|601054
nIN1	RP11.3P17.3	0.320282395	0.003489656			
nIN1	SRGAP2B	0.45967722	0.00357016			OMIM|614703
nIN1	CCSER1	0.883932081	0.003573273	Unclassified	BrainSpLMD|401145;Eurexp|euxassay_016073|cervical, cervico-thoracic, facial VII, glossopharyngeal IX, mantle layer, marginal layer, metanephros, thoracic, trachea	
nIN1	DMTF1	0.330934561	0.003626382	Transcription factor	BrainSpLMD|9988	OMIM|608491
nIN1	ZNF704	0.699834403	0.003753405	Unclassified		
nIN1	SMARCD1	0.934858434	0.003758384	Transcription regulatory protein	BrainSpLMD|6602	OMIM|601735;COSMIC||breast
nIN1	HNRNPA1P7	0.409576998	0.003782234			
nIN1	MFN1	0.68503397	0.003808171	GTPase	BrainSpLMD|55669	OMIM|608506
nIN1	NBEA	0.621805635	0.003839787	Anchor protein	BrainSpLMD|26960	SFARI||Autism, 4 - Minimal evidence;OMIM|604889;COSMIC||large intestine carcinoma, multiple myeloma
nIN1	NIPSNAP1	0.632948228	0.003966481	Unclassified	BrainSpLMD|8508;Eurexp|euxassay_005226|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, liver, lung, metanephros, midgut, molar, spinal cord, stomach, submandibular gland primordium, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|603249
nIN1	CDK6	0.795067568	0.004058874	Cell cycle control protein	BrainSpLMD|1021	OMIM|603368;COSMIC||ALL;HPO|1021|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Cortical gyral simplification, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
nIN1	TUBB3	1.160809118	0.004063807	Structural protein	Eurexp|euxassay_015339|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, stroma, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|21909	OMIM|602661;HPO|10381|Agenesis of corpus callosum, Amblyopia, Autosomal dominant inheritance, Compensatory chin elevation, Congenital fibrosis of extraocular muscles, Congenital onset, Cortical dysplasia, Exotropia, Global developmental delay, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, moderate, Levator palpebrae superioris atrophy, Lissencephaly, Microcephaly, Muscular hypotonia of the trunk, Nonprogressive restrictive external ophthalmoplegia, Nystagmus, Phenotypic variability, Polymicrogyria, Ptosis, Spasticity, Strabismus, Superior rectus atrophy, Variable expressivity
nIN1	GOLM1	0.844184024	0.004079043	Transport/cargo protein	BrainSpLMD|51280;Eurexp|euxassay_002445|rectum	OMIM|606804
nIN1	GART	0.68925916	0.00417506	Enzyme: Transferase	BrainSpLMD|2618	OMIM|138440
nIN1	NCAM1	0.436330457	0.004179444	Adhesion molecule	BrainSpLMD|4684;Eurexp|euxassay_014138|bladder, brain, cervical, cervico-thoracic, cortex, dermal component, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, pericardial cavity, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, ureter, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17734	OMIM|116930
nIN1	ARID4B	0.482871663	0.004197955	DNA binding protein	BrainSpLMD|51742	OMIM|609696
nIN1	RP11.524C21.2	0.676694741	0.0042121			
nIN1	PHF20L1	0.500935181	0.004247464	Unclassified	BrainSpLMD|51105	
nIN1	RPS3A	0.316107139	0.004381074	Ribosomal subunit		OMIM|180478
nIN1	RAB18	1.02032883	0.004505962	GTPase	BrainSpLMD|22931	OMIM|602207;HPO|22931|Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Ankle clonus, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Blepharophimosis, Brachycephaly, Cataract, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Clitoral hypoplasia, Congenital cataract, Cortical visual impairment, Cryptorchidism, Decreased testicular size, Delayed puberty, Downturned corners of mouth, Flexion contracture, Generalized hirsutism, Global developmental delay, High palate, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplastic labia minora, Intellectual disability, profound, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphoscoliosis, Kyphosis, Lissencephaly, Low anterior hairline, Low-set, posteriorly rotated ears, Macrotia, Microcephaly, Microcornea, Micrognathia, Micropenis, Microphthalmia, Muscular hypotonia, Muscular hypotonia of the trunk, Narrow palate, Nystagmus, Optic atrophy, Pachygyria, Polymicrogyria, Postnatal growth retardation, Postnatal microcephaly, Scoliosis, Scrotal hypoplasia, Seizures, Shallow anterior chamber, Short nose, Short philtrum, Short stature, Spastic tetraplegia, Spasticity, Ventriculomegaly, Wide nasal bridge
nIN1	SNORA12	0.677688739	0.004594259			OMIM|611330
nIN1	ZFHX2	1.211637637	0.004737383	Transcription regulatory protein	BrainSpLMD|85446;BrainSpMouseDev|88528	
nIN1	NDUFA10	0.525667892	0.004759682	Enzyme: Oxidoreductase	BrainSpLMD|4705	OMIM|603835;HPO|4705|Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
nIN1	HNRNPA1P10	0.253160798	0.004984676			
nIN1	PPHLN1	0.25159944	0.005187624	Structural protein	BrainSpLMD|51535	OMIM|608150
nIN1	RPL34	0.285649983	0.005275136	Ribosomal subunit	Eurexp|euxassay_007041|embryo	OMIM|616862
nIN1	ZNF207	0.535340383	0.005877644	DNA binding protein	BrainSpLMD|7756;BrainSpMouseDev|22437	OMIM|603428
nIN1	QKI	0.377887801	0.00603313	RNA binding protein	BrainSpLMD|9444;Eurexp|euxassay_012259|diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, lens, lung, mandible, mantle layer, marginal layer, maxilla, meninges, midgut, neural retina, orbito-sphenoid, petrous part, skeletal muscle, stomach, submandibular gland primordium, turbinate, vault of skull, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|609590;COSMIC||angiocentric glioma, colorectal cancer
nIN1	GLUL	0.533174006	0.006090143	Enzyme: Aminotransferase	BrainSpLMD|2752;BrainSpMouseDev|14421	OMIM|138290;HPO|2752|Apnea, Autosomal recessive inheritance, Bradycardia, Brain atrophy, CNS hypomyelination, Depressed nasal bridge, Encephalopathy, Generalized hypotonia, Hyperammonemia, Hyperreflexia, Hypoplasia of the corpus callosum, Low-set ears, Periventricular cysts, Respiratory insufficiency, Seizures, Severe global developmental delay, Skin rash, Subependymal cysts, Ventriculomegaly, Wide nasal bridge
nIN1	NBPF12	0.666063182	0.006151306			OMIM|608607
nIN1	POLR2J	0.275602141	0.006177265	RNA polymerase	BrainSpLMD|5439	OMIM|604150
nIN1	ZNF618	0.538100309	0.006262061	Unclassified	BrainSpLMD|114991	OMIM|617077
nIN1	GNPTAB	0.436439508	0.006376401	Calcium binding protein	BrainSpLMD|79158	OMIM|607840;HPO|79158|Abnormality of nervous system morphology, Abnormality of the rib cage, Abnormality of the thorax, Anteverted nares, Aortic regurgitation, Atlantoaxial dislocation, Autosomal recessive inheritance, Beaking of vertebral bodies T12-L3, Broad ribs, Bullet-shaped phalanges of the hand, Cardiomegaly, Carpal bone hypoplasia, Cavernous hemangioma, Coarse facial features, Congestive heart failure, Constrictive median neuropathy, Corneal erosion, Craniosynostosis, Death in childhood, Deficiency of N-acetylglucosamine-1-phosphotransferase, Depressed nasal bridge, Diastasis recti, Dysostosis multiplex, Epicanthus, Failure to thrive, Flared iliac wings, Flat acetabular roof, Generalized hirsutism, Heart murmur, Hepatomegaly, Hernia, High forehead, Hip dislocation, Hoarse voice, Hyperopic astigmatism, Hypertrophic cardiomyopathy, Hypoplasia of the odontoid process, Hypoplastic scapulae, Increased serum beta-hexosaminidase, Increased serum iduronate sulfatase activity, Inguinal hernia, Intellectual disability, Irregular carpal bones, J-shaped sella turcica, Lack of skin elasticity, Large sella turcica, Long philtrum, Lower thoracic interpediculate narrowness, Macroglossia, Mandibular prognathia, Megalocornea, Metaphyseal widening, Mucopolysacchariduria, Myelopathy, Narrow forehead, Neonatal hypotonia, Opacification of the corneal stroma, Osteopenia, Ovoid vertebral bodies, Palpebral edema, Pathologic fracture, Progressive alveolar ridge hypertropy, Protuberant abdomen, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia, Retinal degeneration, Scoliosis, Severe global developmental delay, Severe postnatal growth retardation, Shallow acetabular fossae, Short long bone, Short ribs, Short stature, Soft tissue swelling of interphalangeal joints, Sparse and thin eyebrow, Specific learning disability, Splenomegaly, Split hand, Talipes equinovarus, Thickened calvaria, Thickened skin, Thin skin, Thoracolumbar kyphoscoliosis, Umbilical hernia, Varus deformity of humeral neck, Wide intermamillary distance
nIN1	TMEM50A	0.287518881	0.006548313	Integral membrane protein		OMIM|605348
nIN1	STAT2	0.617722811	0.00655274	Transcription factor	BrainSpLMD|6773	OMIM|600556;HPO|6773|Autosomal recessive inheritance, Variable expressivity
nIN1	PELI2	0.605952611	0.006708796	Unclassified	BrainSpLMD|57161;Eurexp|euxassay_014344|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|614798
nIN1	UBA3	0.644180724	0.006772478	Ubiquitin proteasome system protein	BrainSpLMD|9039	OMIM|603172
nIN1	UBE4B	0.916304801	0.007009405	Ubiquitin proteasome system protein	BrainSpLMD|10277	OMIM|613565
nIN1	VEZF1	0.373450361	0.007027591	Transcription factor	BrainSpLMD|7716	OMIM|606747
nIN1	AP2M1	0.429574376	0.007291349	Adapter molecule	BrainSpLMD|1173	OMIM|601024
nIN1	HIPK2	0.670923778	0.007431376	Serine/threonine kinase	BrainSpLMD|28996	OMIM|606868
nIN1	COL4A3BP	0.264883649	0.007478045	Serine/threonine kinase	BrainSpLMD|10087	OMIM|604677;HPO|10087|2-3 toe syndactyly, Anteverted nares, Autosomal dominant inheritance, Bilateral ptosis, Broad-based gait, Bruxism, Coarse hair, Cortical visual impairment, Curly hair, Drooling, Epicanthus, Generalized tonic-clonic seizures, Global developmental delay, Hearing impairment, Intellectual disability, Muscular hypotonia of the trunk, Myopathic facies, Oligohydramnios, Postnatal microcephaly, Short foot, Smooth philtrum, Stereotypy, Synophrys, Upslanted palpebral fissure, Wide intermamillary distance, Widely spaced teeth
nIN1	UBR5	0.281968154	0.00770889	Ubiquitin proteasome system protein	BrainSpLMD|51366;Eurexp|euxassay_010003|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, submandibular gland primordium, trigeminal V, vagus X, ventricular layer, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|608413;COSMIC||mantle cell lymphoma, gastric, colorectal
nIN1	NEDD4L	0.68865844	0.00772364	Ubiquitin proteasome system protein	BrainSpLMD|23327;Eurexp|euxassay_011535|brain, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, metanephros, midgut, neural retina, oesophagus, olfactory, pancreas, rectum, renal/urinary system, rest of mesenchyme, skeletal muscle, spinal cord, stomach, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|606384;HPO|23327|2-3 toe syndactyly, Autosomal dominant inheritance, Cleft palate, Congenital onset, Cryptorchidism, Global developmental delay, Intellectual disability, Micrognathia, Muscular hypotonia of the trunk, Strabismus
nIN1	PDHB	0.558183973	0.007749435	Enzyme: Decarboxylase	BrainSpLMD|5162	OMIM|179060;HPO|5162|Autosomal recessive inheritance, Generalized hypotonia, Lactic acidosis
nIN1	RPS3AP5	0.348073541	0.007764778			
nIN1	ATP6V1G1	0.332445005	0.007813637	Transport/cargo protein	BrainSpLMD|9550;Eurexp|euxassay_006208|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, stroma, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|607296
nIN1	SUCLA2	0.301098797	0.008107133	Enzyme: Synthase	BrainSpLMD|8803;Eurexp|euxassay_018605|dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, right lung, trigeminal V, vagus X	OMIM|603921;HPO|8803|Abnormal electroretinogram, Abnormality of the basal ganglia, Abnormality of visual evoked potentials, Aminoaciduria, Ataxia, Athetosis, Autosomal recessive inheritance, Behavioral abnormality, Cachexia, Cerebral atrophy, Cerebral calcification, Decreased activity of mitochondrial respiratory chain, Decreased nerve conduction velocity, Delayed gross motor development, Dystonia, Elevated serum creatine phosphokinase, Facial diplegia, Failure to thrive, Feeding difficulties in infancy, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hyporeflexia, Infantile onset, Intellectual disability, progressive, Irritability, Lactic acidosis, Loss of ability to walk in early childhood, Methylmalonic acidemia, Methylmalonic aciduria, Microcephaly, Ophthalmoplegia, Peripheral neuropathy, Progressive encephalopathy, Ptosis, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment, Short stature, Skeletal muscle atrophy, Spasticity, Strabismus, Ventriculomegaly, Visual impairment
nIN1	CREB1	0.739037549	0.008108671	Transcription factor	BrainSpLMD|1385;Eurexp|euxassay_018374|embryo;BrainSpMouseDev|12695	OMIM|123810;COSMIC||clear cell sarcoma, angiomatoid fibrous histiocytoma;HPO|1385|Histiocytoma, Somatic mutation
nIN1	KIAA1731	0.759193272	0.00841244			
nIN1	HERC1	0.71414365	0.008460215	Membrane transport protein	BrainSpLMD|8925;Eurexp|euxassay_010717|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, mandible, maxilla, neural retina, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|605109;HPO|8925|Arachnodactyly, Autosomal recessive inheritance, Congenital onset, Downslanted palpebral fissures, Frontal bossing, Gait ataxia, Generalized hypotonia, Global developmental delay, High palate, Hyperlordosis, Hypertelorism, Intellectual disability, Joint laxity, Kyphosis, Large hands, Long face, Long foot, Long neck, Low-set ears, Macrocephaly, Macrotia, Malar flattening, Mandibular prognathia, Megalencephaly, Pes planus, Posteriorly rotated ears, Prominent forehead, Prominent nasal bridge, Proptosis, Scoliosis, Sparse eyebrow, Tall stature, Triangular face, Upslanted palpebral fissure, Ventriculomegaly
nIN1	UBE2N	0.294054962	0.008535492	Ubiquitin proteasome system protein	BrainSpLMD|7334	OMIM|603679
nIN1	CTD.2192J16.15	0.35208921	0.008612078			
nIN1	RNMT	0.604977236	0.008765493	RNA methyltransferase	BrainSpLMD|8731;Eurexp|euxassay_013666|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mandible, maxilla, metanephros, molar, testis, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|603514
nIN1	ABCA1	1.057997388	0.008811775	Transport/cargo protein	BrainSpLMD|19;Eurexp|euxassay_009354|brain, spinal cord, ventricular layer	OMIM|600046;HPO|19|Abdominal pain, Abnormality of the liver, Accelerated atherosclerosis, Anemia, Autosomal dominant inheritance, Autosomal recessive inheritance, Blurred vision, Chronic noninfectious lymphadenopathy, Corneal opacity, Coronary artery stenosis, Decreased circulating high-density lipoprotein levels, Distal amyotrophy, Distal muscle weakness, Dry skin, EMG abnormality, Ectropion, Facial diplegia, Hemiplegia/hemiparesis, Hepatomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Hyporeflexia, Impaired pain sensation, Impaired temperature sensation, Left ventricular hypertrophy, Lymphadenopathy, Myocardial infarction, Nail dysplasia, Nail dystrophy, Opacification of the corneal stroma, Orange discoloured tonsils, Peripheral axonal neuropathy, Peripheral demyelination, Progressive peripheral neuropathy, Splenomegaly, Visual impairment, Xanthomatosis
nIN1	PARP1	0.712060218	0.008815648	Enzyme: Ribosyltransferase	BrainSpLMD|142	OMIM|173870
nIN1	FRA10AC1	0.570668806	0.00949378	Unclassified	BrainSpLMD|118924	OMIM|608866
nIN1	FXR1	0.659150751	0.009749182	RNA binding protein	BrainSpLMD|8087	OMIM|600819
nIN1	ARMC1	0.307349976	0.009989487	Unclassified	BrainSpLMD|55156	
nIN2	RP11.16F15.1	2.343777662	0			
nIN2	PDZRN4	1.927367863	0	Unclassified	BrainSpLMD|29951;Eurexp|euxassay_013149|axial skeleton, basioccipital bone, femur, fibula, humerus, mantle layer, phalanx, rib, scapula, tibia	OMIM|609730
nIN2	PLS3	1.85385389	0	Structural protein	BrainSpLMD|5358	OMIM|300131;HPO|5358|Osteopenia, Osteoporosis, Vertebral compression fractures, X-linked dominant inheritance
nIN2	TMEM123	1.826395699	0	Cell surface receptor	BrainSpLMD|114908	OMIM|606356
nIN2	GAD1	1.712025724	0	Enzyme: Decarboxylase	BrainSpLMD|2571;Eurexp|euxassay_005634|cerebral cortex, corpus striatum, hindbrain, incisor, mantle layer, marginal layer, molar, olfactory lobe, oral region, spinal cord, telencephalon;BrainSpMouseDev|14191	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605363;HPO|2571|Autosomal recessive inheritance, Babinski sign, Cerebral palsy, Flexion contracture, Global developmental delay, Heterogeneous, Hyperreflexia, Infantile onset, Intellectual disability, Microcephaly, Scoliosis, Seizures, Spastic diplegia, Spastic tetraplegia
nIN2	NRXN3	1.668026459	0	Adhesion molecule	BrainSpLMD|9369;Eurexp|euxassay_009777|bladder, collecting ducts, inner ear, mantle layer, marginal layer, neural retina, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|600567
nIN2	DLX2	1.633628126	0	Transcription factor	BrainSpLMD|1746;BrainSpMouseDev|13171	SFARI||Autism, 4 - Minimal evidence;OMIM|126255
nIN2	LHX6	1.509514653	0	Transcription factor	BrainSpLMD|26468;BrainSpMouseDev|16645	OMIM|608215
nIN2	DLX6.AS1	1.254787646	0			
nIN2	SOX2.OT	1.015956605	0			
nIN2	DCX	0.892764609	0	Cytoskeletal associated protein	BrainSpLMD|1641;Eurexp|euxassay_018537|brain, capsule, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|12973	SFARI||Autism, No category;OMIM|300121;HPO|1641|Agenesis of corpus callosum, Ataxia, Death in infancy, Dysarthria, Feeding difficulties, Hypertonia, Incomplete penetrance, Infantile onset, Intellectual disability, Intellectual disability, severe, Lissencephaly, Micropenis, Motor delay, Muscular hypotonia, Muscular hypotonia of the trunk, Nystagmus, Pachygyria, Postnatal growth retardation, Seizures, X-linked inheritance
nIN2	SOX4	0.88316667	0	Transcription factor	BrainSpLMD|6659;Eurexp|euxassay_019583|cervical, cervico-thoracic, dorsal grey horn, dorsal root ganglion, incisor, lung, mantle layer, mesenchyme, metanephros, molar, neural retina, oesophagus, phalanx, submandibular gland primordium, testis, trachea, valve, vibrissa;BrainSpMouseDev|20439	OMIM|184430
nIN2	SOX11	0.671102231	0	Transcription factor	BrainSpLMD|6664;BrainSpMouseDev|20428	OMIM|600898;HPO|6664|Abnormal facial shape, Abnormality of cardiovascular system morphology, Abnormality of the columella, Abnormality of the dentition, Abnormality of the nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Autosomal dominant inheritance, Clinodactyly, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Everted lower lip vermilion, Feeding difficulties in infancy, Full cheeks, Generalized hirsutism, Global developmental delay, Hearing impairment, Highly arched eyebrow, Hypertrichosis, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Long nose, Low-set ears, Microcephaly, Midface retrusion, Muscular hypotonia, Nystagmus, Open mouth, Posteriorly rotated ears, Recurrent respiratory infections, Scoliosis, Seizures, Short chin, Short distal phalanx of finger, Short nose, Short palpebral fissure, Short philtrum, Short stature, Slow-growing hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick vermilion border, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Wide mouth, Wide nasal bridge
nIN2	ADAMTS5	3.044319693	4.33E-15	Metallo protease	BrainSpLMD|11096	OMIM|605007
nIN2	STMN2	0.475451138	4.92E-14	Cytoskeletal associated protein	BrainSpLMD|11075;Eurexp|euxassay_009268|cervical, cervico-thoracic, dorsal root ganglion, facial VII, footplate, forebrain, glossopharyngeal IX, handplate, hindbrain, hindgut, incisor, lip, midbrain, midgut, neural retina, oesophagus, olfactory, spinal cord, stomach, thoracic, thymus primordium, tongue, trigeminal V, vestibulocochlear VIII, vibrissa, visceral, vomeronasal organ	OMIM|600621
nIN2	TIAM1	1.717343196	6.02E-14	Guanine nucleotide exchange factor	BrainSpLMD|7074;Eurexp|euxassay_006321|epidermis, incisor, molar, naris, olfactory, submandibular gland primordium, thymus primordium, vibrissa;BrainSpMouseDev|21603	OMIM|600687
nIN2	ZNF536	1.388532102	2.43E-13	DNA binding protein	BrainSpLMD|9745;Eurexp|euxassay_015751|adrenal gland, bladder, brain, cochlea, dorsal root ganglion, forelimb, glossopharyngeal IX, hindgut, hindlimb, limb, loop, lung, mandible, medullary stroma, midgut, molar, oesophagus, olfactory, penis, pituitary, rectum, retina, spinal cord, stomach, thyroid, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	
nIN2	RP1.182O16.1	0.653953829	5.21E-13			
nIN2	BNIP3L	0.329470508	8.19E-13	Cell cycle control protein	BrainSpLMD|665;Eurexp|euxassay_002684|thymus primordium	OMIM|605368
nIN2	HIST1H4J	2.478837695	1.80E-12	DNA binding protein		OMIM|602826
nIN2	SOX6	1.604842517	1.89E-12	Transcription factor	BrainSpLMD|55553;BrainSpMouseDev|20441	OMIM|607257
nIN2	SP9	1.674427069	2.13E-12		BrainSpLMD|100131390;BrainSpMouseDev|120188	
nIN2	RP11.588P7.1	0.693985286	2.81E-12			
nIN2	MT.RNR1	0.959994106	5.34E-12			
nIN2	RPS13P2	0.892136487	6.33E-12			
nIN2	EIF5	0.362956444	6.80E-12	Translation regulatory protein;GTPase activating protein	BrainSpLMD|1983	OMIM|601710
nIN2	NEDD8	0.423350998	7.73E-12	Ubiquitin proteasome system protein	BrainSpLMD|4738	OMIM|603171
nIN2	DCLK2	1.636972686	1.09E-11	Serine/threonine kinase	BrainSpLMD|166614;Eurexp|euxassay_009796|associated mesenchyme, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nasal cavity, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613166
nIN2	RPL24P8	0.745791303	1.10E-11			
nIN2	PFN2	1.240714779	1.32E-11	Structural protein	BrainSpLMD|5217;Eurexp|euxassay_002518|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|176590
nIN2	YWHAG	0.330915233	1.87E-11	Adapter molecule	BrainSpLMD|7532	OMIM|605356
nIN2	DLX5	1.38832289	2.07E-11	Transcription regulatory protein	BrainSpLMD|1749;BrainSpMouseDev|13174	OMIM|600028;HPO|1749|Autosomal recessive inheritance, Finger syndactyly, Oligodactyly, Sensorineural hearing impairment, Split foot, Split hand
nIN2	ST8SIA5	1.169560965	2.65E-11	Enzyme: Sialyltransferase	BrainSpLMD|29906	OMIM|607162
nIN2	SS18	0.254061703	2.89E-11	Transcription regulatory protein	BrainSpLMD|6760	OMIM|600192;COSMIC||synovial sarcoma
nIN2	DLX6	1.275421823	6.60E-11	Transcription factor	BrainSpLMD|1750;BrainSpMouseDev|13175	SFARI||Autism, 4 - Minimal evidence;OMIM|600030;HPO|1750|Finger syndactyly, Oligodactyly
nIN2	RPL34P18	0.628220536	7.74E-11			
nIN2	MALAT1	0.612241634	7.96E-11		BrainSpLMD|378938	OMIM|607924;COSMIC||renal cell carcinoma (childhood epithelioid), lung
nIN2	PHF20L1	0.57718489	8.61E-11	Unclassified	BrainSpLMD|51105	
nIN2	BZW1P2	1.212579736	1.11E-10			
nIN2	CCT8P1	1.694840736	1.29E-10			
nIN2	RPS27	0.765517629	1.30E-10	Ribosomal subunit		OMIM|603702;HPO|6232|Abnormality of skin pigmentation, Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Anemia, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Macrocytic anemia, Migraine, Pallor
nIN2	WDR60	0.397056143	1.76E-10	Unclassified	BrainSpLMD|55112;Eurexp|euxassay_012520|mandible, maxilla, olfactory, orbito-sphenoid	OMIM|615462;HPO|55112|Abdominal distention, Abnormal pelvis bone ossification, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Absent or minimally ossified vertebral bodies, Acetabular spurs, Ambiguous genitalia, Autosomal recessive inheritance, Brachydactyly, Cleft upper lip, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Failure to thrive, Femoral bowing, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypoplasia of penis, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Narrow chest, Pancreatic fibrosis, Polyhydramnios, Postaxial hand polydactyly, Postaxial polydactyly, Preaxial polydactyly, Pulmonary hypoplasia, Renal hypoplasia, Respiratory insufficiency, Short foot, Short long bone, Short palm, Short ribs, Short stature, Short thorax, Skeletal dysplasia, Syndactyly, Thoracic dysplasia, Urethrovaginal fistula, Uterus didelphys, Ventricular septal defect, Wide nose
nIN2	NOLC1	0.265416928	2.56E-10	Transcription factor	BrainSpLMD|9221	OMIM|602394
nIN2	LRRC75A.AS1	0.269964409	2.58E-10			
nIN2	ICA1L	0.275442651	3.53E-10	Unclassified	BrainSpLMD|130026	
nIN2	NDUFA4	0.488152752	4.28E-10	Enzyme: Oxidoreductase	BrainSpLMD|4697;Eurexp|euxassay_003412|adenohypophysis, adrenal gland, bladder, brain, dorsal root ganglion, facial VII, glossopharyngeal IX, heart, incisor, liver, lung, metanephros, midgut, molar, neural retina, olfactory, orbito-sphenoid, pancreas, respiratory, segmental spinal nerve, spinal cord, stomach, stroma, submandibular gland primordium, thymus primordium, tongue, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|603833
nIN2	RPS3AP5	0.633467965	4.30E-10			
nIN2	ATP6V1G1	0.310714551	4.62E-10	Transport/cargo protein	BrainSpLMD|9550;Eurexp|euxassay_006208|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, stroma, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|607296
nIN2	MAP3K13	0.391362607	4.85E-10	Serine/threonine kinase	BrainSpLMD|9175;Eurexp|euxassay_014094|dorsal grey horn, mantle layer	OMIM|604915;COSMIC||breast
nIN2	PPA1	0.342684776	4.96E-10	Enzyme: Phosphohydrolase	BrainSpLMD|5464;Eurexp|euxassay_004470|bladder, cranium, forelimb, hindlimb, incisor, lung, mandible, maxilla, mesenchyme, metanephros, midgut, nasal septum, olfactory, orbito-sphenoid, palatal shelf, pancreas, respiratory, submandibular gland primordium, tail, turbinate bones, vibrissa	OMIM|179030
nIN2	GPATCH2L	0.251843148	5.11E-10	Unclassified	BrainSpLMD|55668	
nIN2	CCDC88A	0.924557919	6.27E-10	Cytoskeletal protein	BrainSpLMD|55704;Eurexp|euxassay_012890|mantle layer, ventral grey horn	OMIM|609736;HPO|55704|Abnormality of the hand, Autosomal recessive inheritance, Cerebellar atrophy, Developmental stagnation, Edema, Epicanthus, Feeding difficulties in infancy, Full cheeks, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile encephalopathy, Intellectual disability, profound, Myoclonus, Narrow forehead, Neuronal loss in central nervous system, Open mouth, Optic atrophy, Pachygyria, Peripheral dysmyelination, Polymicrogyria, Progressive microcephaly, Retrognathia, Seizures, Severe muscular hypotonia, Short nose, Tented upper lip vermilion, Undetectable visual evoked potentials
nIN2	NKX2.1	1.451673629	6.74E-10			
nIN2	NUP50	0.304316702	7.99E-10	Transport/cargo protein	BrainSpLMD|10762	OMIM|604646
nIN2	TMSB4XP8	0.969216144	8.63E-10	Cytoskeletal associated protein		
nIN2	SCAF11	0.545532823	1.06E-09	RNA binding protein	BrainSpLMD|9169;Eurexp|euxassay_014100|ventricle, ventricular layer	OMIM|603668
nIN2	ATP5G2P4	0.51870585	1.26E-09			
nIN2	TMEM2	1.331122089	1.43E-09	Integral membrane protein	BrainSpLMD|23670	OMIM|605835
nIN2	TMCO1	0.425824689	2.15E-09	Integral membrane protein	BrainSpLMD|54499;Eurexp|euxassay_010558|clavicle, mandible, maxilla, rib	OMIM|614123;HPO|54499|Bifid ribs, Brachycephaly, Broad philtrum, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Coarse hair, Downslanted palpebral fissures, Epicanthus, Hemivertebrae, Hernia, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Low posterior hairline, Low-set, posteriorly rotated ears, Macrocephaly, Midface retrusion, Narrow chest, Polyhydramnios, Rib fusion, Scoliosis, Short neck, Short nose, Short stature, Sprengel anomaly, Strabismus, Synophrys, Thick eyebrow, Ventriculomegaly, Wide mouth, Wide nose
nIN2	SPCS1	0.730779961	2.33E-09	Unclassified	BrainSpLMD|28972;Eurexp|euxassay_008166|mandible, maxilla	OMIM|610358
nIN2	HMGN1	0.459619387	2.33E-09	Transcription regulatory protein	BrainSpLMD|3150;Eurexp|euxassay_003511|calyces, cochlea, mantle layer, marginal layer, vibrissa;BrainSpMouseDev|15087	SFARI||Autism, 3 - Suggestive evidence;OMIM|163920
nIN2	ATP5J	0.500368785	2.61E-09			
nIN2	RABGAP1	0.267075449	2.97E-09	GTPase activating protein	BrainSpLMD|23637	OMIM|615882
nIN2	PPP2R5C	0.343800599	4.39E-09	Enzyme regulator	BrainSpLMD|5527	OMIM|601645
nIN2	NDUFA1	0.544622608	4.59E-09	Enzyme: Oxidoreductase	BrainSpLMD|4694;Eurexp|euxassay_003059|facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|300078;HPO|4694|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
nIN2	DYNC1LI2	0.48557337	4.95E-09	Unclassified	BrainSpLMD|1783	OMIM|611406
nIN2	CADPS	1.329958727	5.68E-09	Membrane transport protein	BrainSpLMD|8618;Eurexp|euxassay_006311|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral wall, mantle layer, meninges, neural retina, olfactory, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|604667
nIN2	KIFAP3	0.680123112	8.18E-09	Transport/cargo protein	BrainSpLMD|22920;Eurexp|euxassay_012381|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, mesenchyme, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601836
nIN2	ZCRB1	0.553065821	9.76E-09	RNA binding protein	BrainSpLMD|85437	OMIM|610750
nIN2	RAP2A	0.265039577	1.06E-08	GTPase	BrainSpLMD|5911	OMIM|179540
nIN2	EID1	0.722737173	1.07E-08	Cell cycle control protein	BrainSpLMD|23741	OMIM|605894
nIN2	TCTN2	1.46549037	1.10E-08	Unclassified	BrainSpLMD|79867;Eurexp|euxassay_000837|4th ventricle, choroid plexus, lateral recess, turbinate bones, ventricular layer	OMIM|613846;HPO|79867|Abdominal distention, Absent speech, Anophthalmia, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Broad forehead, Cataract, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Cleft palate, Cleft upper lip, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Dysmetria, Encephalocele, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Hyperechogenic kidneys, Hypermetropia, Hyperreflexia, Hypertelorism, Infantile onset, Intellectual disability, Lobar holoprosencephaly, Long face, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Pachygyria, Polydactyly, Polymicrogyria, Postaxial foot polydactyly, Postaxial hand polydactyly, Sclerocornea, Short neck, Short nose, Sloping forehead, Spasticity, Talipes, Talipes equinovarus
nIN2	TPR	0.31890369	1.11E-08	Unclassified	BrainSpLMD|7175;Eurexp|euxassay_012642|cortex, incisor, lobe, molar, olfactory, testis, thymus primordium, ventricular layer, vibrissa	OMIM|189940;COSMIC||papillary thyroid, NSCLC
nIN2	TMEM33	0.316944542	1.27E-08	Unclassified	BrainSpLMD|55161;Eurexp|euxassay_004897|dorsal root ganglion, glossopharyngeal IX, olfactory, respiratory, submandibular gland primordium, trigeminal V, vagus X, vibrissa	
nIN2	RP11.761N21.2	0.467560507	1.36E-08			
nIN2	MEG3	1.028348005	1.56E-08			OMIM|605636
nIN2	ZNF207	0.361452157	1.70E-08	DNA binding protein	BrainSpLMD|7756;BrainSpMouseDev|22437	OMIM|603428
nIN2	MEX3D	0.659771663	1.78E-08	RNA binding protein	BrainSpLMD|399664	OMIM|611009
nIN2	SOX1	1.469901486	1.92E-08	Transcription factor	BrainSpLMD|6656;Eurexp|euxassay_019565|ventral grey horn, ventricular layer	OMIM|602148
nIN2	ARHGAP5	0.265479599	1.93E-08	GTPase activating protein	BrainSpLMD|394	OMIM|602680;COSMIC||colon cancer, glioma
nIN2	PIBF1	0.626292544	2.07E-08	Transcription factor	BrainSpLMD|10464;Eurexp|euxassay_002784|oesophagus	OMIM|607532
nIN2	RP11.543P15.1	0.461710879	2.07E-08			
nIN2	RPL9	0.727924568	2.20E-08	Ribosomal subunit	BrainSpLMD|6133	OMIM|603686
nIN2	SNORA12	0.909120898	2.31E-08			OMIM|611330
nIN2	WHSC1L1	0.415780978	2.73E-08			
nIN2	LEPROTL1	0.333904331	2.99E-08	Cell surface receptor	BrainSpLMD|23484	OMIM|607338
nIN2	DDX1	0.489144931	3.21E-08	RNA binding protein	BrainSpLMD|1653	OMIM|601257
nIN2	GID8	0.883252183	3.27E-08	Unclassified	BrainSpLMD|54994	OMIM|611625
nIN2	MT.RNR2	0.295076496	3.34E-08			
nIN2	PRRC2C	0.250602116	3.57E-08	Unclassified	BrainSpLMD|23215	OMIM|617373
nIN2	RPS3AP6	0.681711645	3.67E-08			
nIN2	MT.ND3	0.370139685	4.10E-08			
nIN2	RPS2P46	0.907474478	4.40E-08			
nIN2	MAP4	1.054650569	5.72E-08	Cytoskeletal associated protein	BrainSpLMD|4134	OMIM|157132
nIN2	ARX	1.091650997	6.68E-08	Transcription factor	BrainSpLMD|170302;Eurexp|euxassay_018148|floor plate, floorplate, mantle layer, mesenchyme, ovary, pancreas, paramesonephric duct, skeletal muscle, tarsus, ventricle, ventricular layer;BrainSpMouseDev|11665	SFARI||Autism, No category;OMIM|300382;HPO|170302|Abnormal hair pattern, Abnormality of skin morphology, Abnormality of the hip bone, Agenesis of corpus callosum, Ambiguous genitalia, Broad alveolar ridges, Choreoathetosis, Coarse facial features, Cryptorchidism, Death in infancy, Decreased testicular size, Delayed speech and language development, Developmental regression, Diarrhea, Duane anomaly, Dysarthria, Dysphagia, Dyspnea, Dystonia, EEG abnormality, Epileptic encephalopathy, Feeding difficulties in infancy, Flexion contracture, Focal dystonia, Generalized hirsutism, Generalized hypotonia, Generalized myoclonic seizures, Gliosis, Global developmental delay, Hemiplegia, High forehead, High palate, Hirsutism, Hyperconvex nail, Hyperreflexia, Hypohidrosis, Hypoplasia of penis, Hypospadias, Hypsarrhythmia, Infantile spasms, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Large eyes, Limb dystonia, Limb joint contracture, Lissencephaly, Long philtrum, Long upper lip, Low anterior hairline, Low-set ears, Lower limb spasticity, Malabsorption, Microcephaly, Micrognathia, Micropenis, Muscle stiffness, Muscular hypotonia, Muscular hypotonia of the trunk, Myoclonus, Neonatal hypotonia, Nystagmus, Optic atrophy, Overlapping toe, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Prominent supraorbital ridges, Protruding ear, Renal dysplasia, Rigidity, Scoliosis, Seizures, Severe global developmental delay, Short stature, Spastic tetraplegia, Spasticity, Specific learning disability, Status epilepticus, Strabismus, Synophrys, Tapered finger, Tetraplegia, Thin upper lip vermilion, Triangular face, Ventriculomegaly, Visual impairment, Wide anterior fontanel, Wide nasal bridge, X-linked inheritance, X-linked recessive inheritance
nIN2	KRAS	0.251510503	6.85E-08	GTPase	BrainSpLMD|3845	OMIM|190070;COSMIC||pancreatic, colorectal, lung, thyroid, AML, other tumour types;HPO|3845|Abdominal pain, Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of cardiovascular system morphology, Abnormality of coagulation, Abnormality of dental color, Abnormality of dental morphology, Abnormality of finger, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Abnormality of the spleen, Abnormality of the ulna, Abnormality of the ureter, Abnormality of toe, Abnormality of vision, Absent eyebrow, Absent septum pellucidum, Acute myeloid leukemia, Adenoma sebaceum, Aganglionic megacolon, Agenesis of corpus callosum, Alopecia, Alveolar cell carcinoma, Anteverted nares, Anxiety, Aphasia, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the skin, Arrhythmia, Asymmetric growth, Atrial septal defect, Atrial septal dilatation, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Basal cell carcinoma, Biparietal narrowing, Blepharophimosis, Bone cyst, Brachydactyly, Breast carcinoma, Brittle hair, Broad forehead, Capillary hemangiomas, Cavernous hemangioma, Cerebral calcification, Cerebral cortical atrophy, Chronic atrophic gastritis, Coarctation of aorta, Coarse facial features, Coarse hair, Coloboma, Colon cancer, Constipation, Corneal opacity, Cranial asymmetry, Craniofacial hyperostosis, Cryptorchidism, Curly hair, Cystic hygroma, Death in early adulthood, Death in infancy, Deep palmar crease, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Downslanted palpebral fissures, Dry skin, Dysarthria, Dysphasia, Dystrophic fingernails, EEG abnormality, Echolalia, Enlarged thorax, Epibulbar dermoid, Epicanthus, Excessive wrinkled skin, Facial asymmetry, Failure to thrive, Failure to thrive in infancy, Fatigue, Feeding difficulties, Feeding difficulties in infancy, Fine hair, Frontal bossing, Full cheeks, Gastrointestinal hemorrhage, Generalized hyperpigmentation, Genu recurvatum, Glioblastoma, Global developmental delay, Growth delay, Hearing impairment, Hemangioma, Hemimegalencephaly, Hepatomegaly, Heterogeneous, High forehead, High palate, Horseshoe kidney, Hyperextensible skin, Hyperreflexia, Hypertelorism, Hypertonia, Hypogonadotrophic hypogonadism, Hypophosphatemic rickets, Hypopigmentation of the skin, Hypoplasia of the zygomatic bone, Ichthyosis, Increased intracranial pressure, Intellectual disability, Iris coloboma, Irregular hyperpigmentation, Irritability, Joint hyperflexibility, Juvenile myelomonocytic leukemia, Kyphoscoliosis, Laryngeal hypoplasia, Lipodystrophy, Long face, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Malabsorption, Melanocytic nevus, Micrognathia, Microphthalmia, Midface retrusion, Migraine, Mitral valve prolapse, Multiple cafe-au-lait spots, Multiple lentigines, Multiple lipomas, Muscle stiffness, Muscle weakness, Muscular hypotonia, Mutism, Myopia, Nausea and vomiting, Neoplasm of the pancreas, Neoplasm of the rectum, Neoplasm of the skeletal system, Nevus flammeus, Nevus sebaceous, Nystagmus, Osteolysis, Osteopenia, Overgrowth, Palmoplantar keratoderma, Pectus carinatum, Pectus excavatum, Peripheral axonal neuropathy, Plagiocephaly, Polyhydramnios, Porencephalic cyst, Posteriorly rotated ears, Premature birth, Prominent occiput, Proptosis, Ptosis, Pulmonary arterial hypertension, Pulmonary artery stenosis, Pulmonic stenosis, Recurrent fractures, Reduced tendon reflexes, Retinopathy, Rigidity, Sagittal craniosynostosis, Scoliosis, Seizures, Short neck, Short nose, Short palm, Short palpebral fissure, Short stature, Slow-growing hair, Somatic mosaicism, Somatic mutation, Sparse hair, Sparse or absent eyelashes, Spasticity, Sporadic, Stomach cancer, Strabismus, Subcortical cerebral atrophy, Subcutaneous nodule, Telecanthus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Transitional cell carcinoma of the bladder, Triangular face, Tricuspid valve prolapse, Underdeveloped supraorbital ridges, Ventricular septal defect, Ventriculomegaly, Vertebral segmentation defect, Visceral angiomatosis, Webbed neck, Weight loss, Wide intermamillary distance, Xanthomatosis
nIN2	HIST2H4A	0.753277011	7.07E-08	DNA binding protein		OMIM|142750
nIN2	SNRPF	0.738708457	7.18E-08	Ribonucleoprotein	BrainSpLMD|6636	OMIM|603541
nIN2	MARCKS	0.599144581	7.23E-08	Cytoskeletal protein	BrainSpLMD|4082	OMIM|177061
nIN2	TERF2IP	0.693141294	7.33E-08	DNA binding protein;Cell cycle control protein	BrainSpLMD|54386	OMIM|605061;HPO|54386|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus
nIN2	PARK7	0.883541947	7.99E-08	RNA binding protein	BrainSpLMD|11315	OMIM|602533;HPO|11315|Adult onset, Anxiety, Autosomal recessive inheritance, Blepharospasm, Bradykinesia, Postural tremor, Psychotic episodes, Resting tremor, Rigidity, Slow progression
nIN2	RP11.26H16.1	0.528127851	8.35E-08			
nIN2	QRICH1	0.427070686	8.73E-08	Unclassified	BrainSpLMD|54870	SFARI||Autism, 4 - Minimal evidence;OMIM|617387
nIN2	CCDC90B	0.4690348	8.89E-08	Unclassified	BrainSpLMD|60492	
nIN2	DPYSL3	0.92912353	9.83E-08	Enzyme: Hydrolase	BrainSpLMD|1809;Eurexp|euxassay_010399|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, midbrain, midgut, neural retina, olfactory, stomach, telencephalon, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|601168
nIN2	ERBB4	0.794040063	1.00E-07	Receptor tyrosine kinase	BrainSpLMD|2066;Eurexp|euxassay_008088|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|13647	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600543;COSMIC||melanoma, gastric, NSCLC, Amyotrophic lateral sclerosis 19;HPO|2066|Adult onset, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Loss of ability to walk, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Xerostomia
nIN2	RPL21P75	0.59247716	1.04E-07			
nIN2	POU3F4	2.177426114	1.19E-07	Transcription factor	BrainSpLMD|5456;BrainSpMouseDev|18757	OMIM|300039;HPO|5456|Conductive hearing impairment, Dilatated internal auditory canal, Progressive sensorineural hearing impairment, Stapes ankylosis, X-linked recessive inheritance
nIN2	C11orf58	0.440334067	1.27E-07	Unclassified	BrainSpLMD|10944	
nIN2	BCL11A	0.720260854	1.37E-07	DNA binding protein	BrainSpLMD|53335;Eurexp|euxassay_007892|dorsal grey horn, incisor, naris, olfactory, pharyngo-tympanic tube, submandibular gland primordium, vibrissa;BrainSpMouseDev|13802	SFARI||Autism, 2 - Strong candidate;OMIM|606557;COSMIC||B-CLL;HPO|53335|Autosomal dominant inheritance, Congenital onset, Cupped ear, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, Global developmental delay, Intellectual disability, Joint hypermobility, Low-set ears, Microcephaly, Midface retrusion, Overfolded helix, Retrognathia, Strabismus, Thin upper lip vermilion
nIN2	ANKRD12	0.424100725	1.38E-07	Unclassified	BrainSpLMD|23253	OMIM|610616
nIN2	UQCRB	1.105719365	1.41E-07	Enzyme: Reductase	BrainSpLMD|7381;Eurexp|euxassay_002757|basal plate, dorsal root ganglion, epidermal component, lung, trigeminal V, vagus X, ventricular layer	OMIM|191330;HPO|7381|Autosomal recessive inheritance, Hypoglycemia, Metabolic acidosis
nIN2	EIF2S1	0.44071406	1.42E-07	Translation regulatory protein	BrainSpLMD|1965;Eurexp|euxassay_012451|cortex, incisor, lobe, lung, mandible, molar, olfactory, orbito-sphenoid, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|603907
nIN2	C3orf14	0.357458819	1.44E-07	Unclassified	BrainSpLMD|57415	
nIN2	GOLGA4	0.622931496	1.45E-07	Transport/cargo protein	BrainSpLMD|2803	OMIM|602509
nIN2	CTC.308K20.3	0.482057608	1.45E-07			
nIN2	CITED2	2.218926876	1.65E-07	Transcription regulatory protein	BrainSpLMD|10370;BrainSpMouseDev|17451	OMIM|602937;HPO|10370|Abnormal nasal morphology, Atrial septal defect, Autosomal dominant inheritance, Brachydactyly, Broad forehead, Clinodactyly of the 5th finger, Cryptorchidism, Dolichocephaly, Intrauterine growth retardation, Perimembranous ventricular septal defect, Preauricular pit, Proptosis, Tetralogy of Fallot, Thin vermilion border, Underdeveloped supraorbital ridges
nIN2	RPS29	0.829424103	1.67E-07	Ribosomal subunit	BrainSpLMD|6235	OMIM|603633;HPO|6235|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Childhood onset, Cleft palate, Delayed puberty, Elevated red cell adenosine deaminase activity, Fatigue, Incomplete penetrance, Macrocytic anemia, Migraine, Normocytic anemia, Pallor, Variable expressivity
nIN2	VPS35	0.447903814	1.84E-07	Transport/cargo protein	BrainSpLMD|55737	OMIM|601501
nIN2	TMSB4XP1	0.451641295	1.89E-07	-	BrainSpLMD|7115	
nIN2	ZC3H4	0.67377802	1.89E-07	Unclassified		SFARI||Autism, 3 - Suggestive evidence
nIN2	NDUFB8	0.772179943	1.91E-07	Enzyme: Oxidoreductase	BrainSpLMD|4714	OMIM|602140
nIN2	SLAIN1	1.308061435	2.00E-07	Unclassified	BrainSpLMD|122060	OMIM|610491
nIN2	MZT2B	0.487780763	2.11E-07	Unclassified	BrainSpLMD|80097	OMIM|613450
nIN2	RPL18	0.264272228	2.35E-07	Ribosomal subunit	BrainSpLMD|6141	OMIM|604179
nIN2	TMSB10	0.622007871	2.37E-07	Cytoskeletal associated protein	BrainSpLMD|9168	OMIM|188399
nIN2	RPS3A	0.619591543	2.67E-07	Ribosomal subunit		OMIM|180478
nIN2	CHMP5	0.590710212	2.84E-07	Transport/cargo protein	BrainSpLMD|51510	OMIM|610900
nIN2	CNOT7	0.544386749	2.84E-07	Transcription regulatory protein	BrainSpLMD|29883;Eurexp|euxassay_011947|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, brain, dorsal root ganglion, femur, humerus, nasal septum, orbito-sphenoid, petrous part, rib, scapula, spinal cord, turbinate bones	OMIM|604913
nIN2	STXBP5L	1.356015079	2.87E-07	Transport/cargo protein	Eurexp|euxassay_011926|mantle layer	OMIM|609381
nIN2	MORF4L1P1	0.331888579	2.87E-07			
nIN2	NDUFA5	0.451226236	3.03E-07	Enzyme: Oxidoreductase	BrainSpLMD|4698	SFARI||Autism, 4 - Minimal evidence;OMIM|601677
nIN2	UBL5	0.477875494	3.18E-07	Ubiquitin proteasome system protein	BrainSpLMD|59286	OMIM|606849
nIN2	ARID2	0.360503647	3.18E-07	DNA binding protein		OMIM|609539;COSMIC||hepatocellular carcinoma;HPO|196528|Abnormality of cardiovascular system morphology, Abnormality of the dentition, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Feeding difficulties in infancy, Generalized hirsutism, Global developmental delay, Hearing impairment, Hypoplastic fifth fingernail, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Microcephaly, Muscular hypotonia, Nystagmus, Recurrent respiratory infections, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Slow-growing hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Wide mouth, Wide nasal bridge
nIN2	HLTF	0.269899222	3.21E-07	DNA binding protein	BrainSpLMD|6596	OMIM|603257
nIN2	RALGAPA1	0.409008901	3.88E-07	GTPase activating protein	BrainSpLMD|253959	OMIM|608884
nIN2	USP9X	0.512134975	4.10E-07	Ubiquitin proteasome system protein	BrainSpLMD|8239	OMIM|300072;HPO|8239|Abnormality of the dentition, Astigmatism, Atrial septal defect, Brachycephaly, Broad thumb, Bulbous nose, Cataract, Cleft palate, Delayed speech and language development, Depressed nasal bridge, Facial asymmetry, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hip dislocation, Hydronephrosis, Hypermetropia, Hypotelorism, Intellectual disability, Joint laxity, Long philtrum, Low-set ears, Myopia, Narrow forehead, Patent ductus arteriosus, Pes cavus, Phenotypic variability, Posteriorly rotated ears, Prominent forehead, Prominent nose, Renal dysplasia, Respiratory distress, Short foot, Short palpebral fissure, Short stature, Small hand, Smooth philtrum, Strabismus, Tapered finger, Wide nasal bridge, X-linked dominant inheritance, X-linked recessive inheritance
nIN2	CBWD1	0.537979736	4.15E-07	Unclassified	Eurexp|euxassay_003579|vibrissa	OMIM|611078
nIN2	SMARCE1	0.729257661	4.23E-07	DNA binding protein	BrainSpLMD|6605;BrainSpMouseDev|36650	OMIM|603111;COSMIC||meningioma;HPO|6605|Abnormality of cardiovascular system morphology, Abnormality of the dentition, Absent speech, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Arachnodactyly, Atrial septal defect, Autosomal dominant inheritance, Cerebellar hypoplasia, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Dystrophic toenail, Elbow dislocation, Feeding difficulties, Feeding difficulties in infancy, Generalized hirsutism, Global developmental delay, Hearing impairment, Hypoplasia of the corpus callosum, Hypoplastic fifth fingernail, Hypoplastic toenails, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Low anterior hairline, Microcephaly, Muscular hypotonia, Nystagmus, Ptosis, Recurrent infections, Recurrent respiratory infections, Sandal gap, Scoliosis, Seizures, Short distal phalanx of finger, Short philtrum, Short stature, Slow-growing hair, Sparse scalp hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick nasal alae, Thin upper lip vermilion, Wide mouth, Wide nasal bridge, Wide nose
nIN2	RBM33	0.540760782	4.31E-07	RNA binding protein	BrainSpLMD|155435;Eurexp|euxassay_008530|embryo	
nIN2	MINOS1	0.355316347	4.31E-07	Unclassified		OMIM|616574
nIN2	MT.TP	0.661400145	4.55E-07			
nIN2	AC010468.1	0.439486366	4.80E-07			
nIN2	EAF1	0.279502737	5.47E-07	Transcription regulatory protein	BrainSpLMD|85403;Eurexp|euxassay_017241|olfactory	OMIM|608315
nIN2	NDUFS5	0.395015086	5.57E-07	Enzyme: Oxidoreductase	BrainSpLMD|4725	OMIM|603847
nIN2	BRAF	0.490127724	5.86E-07	Serine/threonine kinase	BrainSpLMD|673	SFARI||Autism, No category;OMIM|164757;COSMIC||melanoma, colorectal, papillary thyroid, borderline ovarian, NSCLC, cholangiocarcinoma, pilocytic astrocytoma, Spitzoid tumour, pancreas acinar carcinoma, melanocytic nevus, prostate, gastric, Cardio-facio-cutaneous syndrome;HPO|673|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal hypothalamus morphology, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormal visual field test, Abnormality of coagulation, Abnormality of the aortic valve, Abnormality of the mitral valve, Abnormality of the pulmonary artery, Abnormality of the spleen, Abnormality of the ulna, Abnormality of vision, Absent eyebrow, Absent eyelashes, Alveolar cell carcinoma, Amegakaryocytic thrombocytopenia, Anterior creases of earlobe, Anteverted nares, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the eyebrow, Arrhythmia, Atopic dermatitis, Atrial septal defect, Atrioventricular canal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Biparietal narrowing, Bitemporal hemianopia, Brachydactyly, Brittle hair, Bronchogenic cyst, Bulbous nose, Bundle branch block, Cavernous hemangioma, Central adrenal insufficiency, Central diabetes insipidus, Cerebral calcification, Cerebral cortical atrophy, Clinodactyly, Clinodactyly of the 5th finger, Coarctation of aorta, Coarse facial features, Coarse hair, Cognitive impairment, Congenital onset, Constipation, Cryptorchidism, Cubitus valgus, Curly hair, Cystic hygroma, Decreased fertility, Deep palmar crease, Deep philtrum, Delayed skeletal maturation, Dental malocclusion, Depressed nasal bridge, Dolichocephaly, Downslanted palpebral fissures, Dry skin, Dysarthria, Dysphagia, Dystrophic fingernails, EEG abnormality, Enlarged pituitary gland, Enlarged thorax, Epicanthus, Excessive daytime somnolence, Excessive wrinkled skin, Failure to thrive, Failure to thrive in infancy, Feeding difficulties in infancy, Fine hair, Freckling, Frontal bossing, Full cheeks, Gastroesophageal reflux, Generalized hyperpigmentation, Generalized hypotonia, Global developmental delay, Growth delay, Headache, Hearing impairment, Hepatomegaly, Heterogeneous, High forehead, High palate, High, narrow palate, Hydrocephalus, Hydronephrosis, Hyperextensibility of the finger joints, Hyperextensible skin, Hyperkeratosis, Hypertelorism, Hypertonia, Hypertrophic cardiomyopathy, Hypogonadotrophic hypogonadism, Hypomelanotic macule, Hypoplasia of the frontal lobes, Hypoplasia of the zygomatic bone, Ichthyosis, Intellectual disability, Intracranial cystic lesion, Intrauterine growth retardation, Joint hyperflexibility, Kyphoscoliosis, Long face, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Lymphedema, Macrocephaly, Macrotia, Male infertility, Melanocytic nevus, Micrognathia, Midface retrusion, Mitral valve prolapse, Multiple cafe-au-lait spots, Multiple lentigines, Multiple palmar creases, Multiple plantar creases, Muscle weakness, Muscular hypotonia, Myopia, Narrow forehead, Nausea and vomiting, Neonatal hypotonia, Neoplasm of the anterior pituitary, Neurofibrosarcoma, Numerous nevi, Nystagmus, Obesity, Oculomotor apraxia, Open bite, Open mouth, Optic nerve dysplasia, Osteolysis, Osteopenia, Palmoplantar keratoderma, Papilledema, Papule, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pectus excavatum of inferior sternum, Pituitary hypothyroidism, Polyhydramnios, Poor suck, Posteriorly rotated ears, Postnatal growth retardation, Premature birth, Progressive visual field defects, Progressive visual loss, Prolactin excess, Prominent forehead, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Radial deviation of finger, Reduced factor XII activity, Reduced factor XIII activity, Relative macrocephaly, Scapular winging, Scoliosis, Seizures, Sensorineural hearing impairment, Severe sensorineural hearing impairment, Shield chest, Short neck, Short nose, Short stature, Skin nodule, Slow decrease in visual acuity, Slow-growing hair, Sparse hair, Sparse or absent eyelashes, Splenomegaly, Sprengel anomaly, Strabismus, Submucous cleft hard palate, Superior pectus carinatum, Synovitis, Tetralogy of Fallot, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Tongue thrusting, Triangular face, Underdeveloped supraorbital ridges, Ventricular septal defect, Vomiting, Webbed neck, Wide intermamillary distance, Wide nasal bridge
nIN2	ZYG11B	0.735701222	6.02E-07	Unclassified	BrainSpLMD|79699	
nIN2	CLASP2	0.672081342	6.07E-07	Cytoskeletal associated protein	BrainSpLMD|23122;Eurexp|euxassay_014210|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla oblongata, metencephalon, midbrain, spinal cord, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605853
nIN2	NT5C3A	0.281666181	6.48E-07	Enzyme: Hydrolase	BrainSpLMD|51251;Eurexp|euxassay_006605|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, left, right, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606224;HPO|51251|Autosomal recessive inheritance, Hemoglobinuria, Hemolytic anemia
nIN2	TOP1	0.791933898	6.78E-07	Enzyme: Topoisomerase	BrainSpLMD|7150;BrainSpMouseDev|21726	SFARI||Autism, 5 - Hypothesized but untested;OMIM|126420;COSMIC||AML*
nIN2	ITGB1BP1	0.945544942	7.17E-07	Adapter molecule	BrainSpLMD|9270;Eurexp|euxassay_006800|left lung, right lung	OMIM|607153
nIN2	CLTC	0.931709404	7.29E-07	Structural protein	BrainSpLMD|1213	OMIM|118955;COSMIC||ALCL, renal
nIN2	7-Sep	0.373813444	7.43E-07			
nIN2	RAB18	0.340470464	7.48E-07	GTPase	BrainSpLMD|22931	OMIM|602207;HPO|22931|Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Ankle clonus, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Blepharophimosis, Brachycephaly, Cataract, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Clitoral hypoplasia, Congenital cataract, Cortical visual impairment, Cryptorchidism, Decreased testicular size, Delayed puberty, Downturned corners of mouth, Flexion contracture, Generalized hirsutism, Global developmental delay, High palate, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplastic labia minora, Intellectual disability, profound, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphoscoliosis, Kyphosis, Lissencephaly, Low anterior hairline, Low-set, posteriorly rotated ears, Macrotia, Microcephaly, Microcornea, Micrognathia, Micropenis, Microphthalmia, Muscular hypotonia, Muscular hypotonia of the trunk, Narrow palate, Nystagmus, Optic atrophy, Pachygyria, Polymicrogyria, Postnatal growth retardation, Postnatal microcephaly, Scoliosis, Scrotal hypoplasia, Seizures, Shallow anterior chamber, Short nose, Short philtrum, Short stature, Spastic tetraplegia, Spasticity, Ventriculomegaly, Wide nasal bridge
nIN2	RPL37A	0.721805195	7.50E-07	Ribosomal subunit	BrainSpLMD|6168;Eurexp|euxassay_006825|embryo	OMIM|613314
nIN2	ATP5G1	0.335878396	7.73E-07			
nIN2	NCOR1	0.493007349	8.12E-07	Transcription factor	BrainSpLMD|9611;BrainSpMouseDev|19948	SFARI||Autism, 4 - Minimal evidence;OMIM|600849;COSMIC||breast, Ulnar-mammary syndrome
nIN2	MSH6	0.31369238	8.19E-07	DNA repair protein	BrainSpLMD|2956;Eurexp|euxassay_006580|embryo	OMIM|600678;COSMIC||colorectal, colorectal, endometrial, ovarian;HPO|2956|Abdominal pain, Abnormality of abdomen morphology, Adenoma sebaceum, Anxiety, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary freckling, Basal cell carcinoma, Cafe-au-lait spot, Colon cancer, Constipation, Death in early adulthood, Death in infancy, Depressivity, Endometrial carcinoma, Ependymoma, Fatigue, Gastrointestinal hemorrhage, Glioblastoma, Hereditary nonpolyposis colorectal carcinoma, Hypermelanotic macule, Hypertonia, Incomplete penetrance, Increased intracranial pressure, Irritability, Leukemia, Lymphoma, Malabsorption, Medulloblastoma, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Neoplasm of the stomach, Neuroblastoma, Rhabdomyosarcoma, Seizures, Weight loss
nIN2	TCEB1	0.377366435	8.21E-07			
nIN2	RBMXL1	0.274231167	8.35E-07	-		
nIN2	NUP98	0.506395283	8.53E-07	Transport/cargo protein	BrainSpLMD|4928	OMIM|601021;COSMIC||AML
nIN2	SBF2	0.272866677	8.81E-07	Unclassified	BrainSpLMD|81846	OMIM|607697;HPO|81846|Areflexia, Autosomal recessive inheritance, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Difficulty walking, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Glaucoma, Hammertoe, Heterogeneous, Hyporeflexia, Juvenile onset, Kyphoscoliosis, Onion bulb formation, Pes cavus, Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Split hand, Steppage gait, Talipes equinovarus, Ulnar claw
nIN2	TMA7	0.607956977	9.08E-07	Transcription factor		OMIM|615808
nIN2	SRGAP2B	0.825435839	9.54E-07			OMIM|614703
nIN2	PPP2R5E	0.648114432	9.56E-07	Regulatory/other subunit	BrainSpLMD|5529	OMIM|601647
nIN2	PRPF40A	0.398712322	9.62E-07	RNA binding protein	BrainSpLMD|55660	OMIM|612941
nIN2	GAD2	1.724213329	9.68E-07	Enzyme: Decarboxylase	BrainSpLMD|2572;Eurexp|euxassay_001769|dorsal grey horn, lateral ventricle, mantle layer;BrainSpMouseDev|14193	OMIM|138275
nIN2	MAP1B	0.329144226	1.08E-06	Cytoskeletal associated protein	BrainSpLMD|4131;Eurexp|euxassay_009367|brain, facial VII, glossopharyngeal IX, olfactory, peripheral nervous system, retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|157129
nIN2	RP1.159A19.3	0.577709258	1.09E-06			
nIN2	SH3BGRL3	1.24283866	1.12E-06	Unclassified	BrainSpLMD|83442;Eurexp|euxassay_003517|basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, thymus primordium, trigeminal V, vagus X, ventral grey horn	OMIM|615679
nIN2	PDCD4	0.279708718	1.18E-06	Unclassified	BrainSpLMD|27250;Eurexp|euxassay_010730|epidermis, epithelium, floor plate, floorplate, larynx, olfactory, sternum, thymus primordium, urethra, ventricular layer	OMIM|608610
nIN2	PAPOLA	0.314085073	1.21E-06	RNA binding protein	BrainSpLMD|10914	OMIM|605553
nIN2	XPO7	0.321795898	1.26E-06	Transport/cargo protein	BrainSpLMD|23039	OMIM|606140
nIN2	RPL37P2	0.413455921	1.29E-06			
nIN2	APPL1	0.443301993	1.32E-06	Adapter molecule	BrainSpLMD|26060	OMIM|604299
nIN2	RPS11	0.624788658	1.46E-06	Ribosomal subunit	BrainSpLMD|6205	OMIM|180471
nIN2	ROCK2	0.48015446	1.51E-06	Serine/threonine kinase	BrainSpLMD|9475;BrainSpMouseDev|19641	OMIM|604002
nIN2	FZD3	0.451691423	1.52E-06	G protein coupled receptor	BrainSpLMD|7976;BrainSpMouseDev|14141	OMIM|606143
nIN2	CRBN	0.376237396	1.58E-06	Unclassified	BrainSpLMD|51185;Eurexp|euxassay_004586|dorsal root ganglion, glossopharyngeal IX, trigeminal V	OMIM|609262;HPO|51185|Atrioventricular canal defect, Autosomal recessive inheritance, Brachycephaly, Cleft palate, Cognitive impairment, Cryptorchidism, Downturned corners of mouth, Epicanthus, Global developmental delay, Hearing impairment, High palate, Hypertelorism, Intellectual disability, mild, Intrauterine growth retardation, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscular hypotonia, Postaxial hand polydactyly, Ptosis, Short stature, Telecanthus
nIN2	DNAJC8	0.457432977	1.61E-06	Chaperone	BrainSpLMD|22826	
nIN2	SMARCAD1	0.289272867	1.69E-06	DNA helicase	BrainSpLMD|56916	OMIM|612761;HPO|56916|Abnormal blistering of the skin, Abnormal dermatoglyphics, Adermatoglyphia, Autosomal dominant inheritance, Camptodactyly of finger, Clubbing, Ectodermal dysplasia, Epidermal acanthosis, Flexion contracture, Hypohidrosis, Milia, Palmar hyperkeratosis, Single transverse palmar crease, Skin rash, Tapered finger, Thickened skin, Thin skin
nIN2	RPL24P4	0.63979768	1.69E-06			
nIN2	ZBTB44	0.411061153	1.98E-06	DNA binding protein	BrainSpLMD|29068	
nIN2	SNRNP40	0.556118131	2.02E-06	RNA binding protein	BrainSpLMD|9410;Eurexp|euxassay_006151|cortex, liver, lung, metanephros, submandibular gland primordium	OMIM|607797
nIN2	RNMT	0.277288222	2.20E-06	RNA methyltransferase	BrainSpLMD|8731;Eurexp|euxassay_013666|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mandible, maxilla, metanephros, molar, testis, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|603514
nIN2	SLC30A7	0.441173452	2.33E-06	Membrane transport protein	BrainSpLMD|148867	OMIM|611149
nIN2	RPL5P34	0.437681045	2.35E-06			
nIN2	C5orf24	0.875586209	2.38E-06	Unclassified	BrainSpLMD|134553	
nIN2	EIF3E	0.265008266	2.46E-06	Translation regulatory protein	BrainSpLMD|3646	OMIM|602210;COSMIC||colorectal
nIN2	HNRNPL	0.678489036	2.94E-06	Ribonucleoprotein	BrainSpLMD|3191	OMIM|603083
nIN2	15-Sep	0.518727446	3.05E-06			
nIN2	CTB.79E8.3	0.533582513	3.15E-06			
nIN2	ZNF106	0.742591845	3.20E-06	DNA binding protein	BrainSpLMD|64397;Eurexp|euxassay_010261|skeletal muscle, vertebral axis muscle system	
nIN2	ATP5E	0.528494629	3.23E-06			
nIN2	MYSM1	0.67394976	3.43E-06	DNA binding protein	BrainSpLMD|114803	OMIM|612176
nIN2	FAM65B	1.118386978	3.45E-06			
nIN2	NUFIP2	0.782573317	3.50E-06	RNA binding protein	BrainSpLMD|57532	OMIM|609356
nIN2	RND3	1.021897657	3.52E-06	G protein	BrainSpLMD|390	OMIM|602924
nIN2	ANKRD17	0.505235959	3.72E-06	Unclassified	BrainSpLMD|26057	OMIM|615929
nIN2	TM9SF3	0.820862947	4.16E-06	Membrane transport protein	BrainSpLMD|56889	OMIM|616872
nIN2	PICALM	0.35355798	4.22E-06	Transport/cargo protein	BrainSpLMD|8301	OMIM|603025;COSMIC||T-ALL, AML
nIN2	KMT2E	0.308779327	4.30E-06	Transcription regulatory protein	BrainSpLMD|55904	SFARI||Autism, 3 - Suggestive evidence;OMIM|608444
nIN2	RP5.857K21.7	0.354760816	4.45E-06			
nIN2	CTTNBP2NL	0.4830032	4.50E-06	Unclassified	BrainSpLMD|55917;Eurexp|euxassay_003204|axial muscle, bladder, calyces, hindgut, lobe, midgut, oral epithelium, orbito-sphenoid, rectum, stomach, submandibular gland primordium, urethra, vibrissa	OMIM|615100
nIN2	PDZRN3	0.694218486	4.56E-06	Unclassified	BrainSpLMD|23024;Eurexp|euxassay_000356|mantle layer	OMIM|609729
nIN2	USP8	0.45692602	4.56E-06	Ubiquitin proteasome system protein	BrainSpLMD|9101	OMIM|603158;COSMIC||corticotroph adenoma;HPO|9101|Abdominal obesity, Abnormal fear/anxiety-related behavior, Acne, Adrenal hyperplasia, Alkalosis, Anxiety, Biconcave vertebral bodies, Bruising susceptibility, Depressivity, Diabetes mellitus, Edema, Facial erythema, Failure to thrive, Fatigue, Generalized hirsutism, Glucose intolerance, Hirsutism, Hypertension, Hypokalemia, Immunodeficiency, Increased circulating ACTH level, Infertility, Kyphosis, Lipodystrophy, Menorrhagia, Metrorrhagia, Mood changes, Nephrolithiasis, Oligomenorrhea, Osteoporosis, Pituitary adenoma, Poor wound healing, Psychotic mentation, Purpura, Recurrent fractures, Round face, Skeletal muscle atrophy, Striae distensae, Thin skin, Truncal obesity, Vertebral compression fractures
nIN2	MED10	0.712827857	4.66E-06	Transcription regulatory protein	BrainSpLMD|84246	OMIM|612382
nIN2	VTA1	0.428004378	4.76E-06	Unclassified	BrainSpLMD|51534	OMIM|610902
nIN2	DNTTIP2	0.37388274	4.98E-06	DNA binding protein	BrainSpLMD|30836	OMIM|611199
nIN2	CCDC82	0.521482961	4.99E-06	Unclassified	BrainSpLMD|79780	
nIN2	RP4.706A16.3	0.37678786	5.12E-06			
nIN2	BROX	0.453216742	5.25E-06	Unclassified		
nIN2	ATG12	0.252207017	5.31E-06	Unclassified	BrainSpLMD|9140;Eurexp|euxassay_005505|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X	OMIM|609608
nIN2	ATPIF1	0.449538892	5.36E-06			
nIN2	ATP5I	0.548090179	5.67E-06			
nIN2	TIAL1	0.292513102	5.77E-06	RNA binding protein	BrainSpLMD|7073;Eurexp|euxassay_010582|mantle layer	OMIM|603413
nIN2	RBP1	1.116291193	5.78E-06	Transport/cargo protein	BrainSpLMD|5947;Eurexp|euxassay_003315|brain, corpus striatum, forelimb, hindbrain, hindlimb, mantle layer, midgut, olfactory lobe, telencephalon, turbinate bones	OMIM|180260
nIN2	ARF1	0.518318658	5.79E-06	GTPase	BrainSpLMD|375	OMIM|103180
nIN2	COMMD6	0.686987809	5.81E-06	Unclassified	BrainSpLMD|170622	OMIM|612377
nIN2	PCNXL4	0.40568981	5.95E-06			
nIN2	PPP1R2	0.877819926	6.00E-06	Cell cycle control protein	BrainSpLMD|5504;Eurexp|euxassay_009514|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, trigeminal V, vagus X	OMIM|601792
nIN2	MIB1	0.399047613	6.02E-06	Ubiquitin proteasome system protein	BrainSpLMD|57534;Eurexp|euxassay_013905|glossopharyngeal IX, mantle layer, molar, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|86214	SFARI||Autism, 4 - Minimal evidence;OMIM|608677;HPO|57534|Autosomal dominant inheritance, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy
nIN2	MT.TE	0.429156693	6.15E-06			
nIN2	COPS2	0.343110984	6.23E-06	Transcription regulatory protein	BrainSpLMD|9318	OMIM|604508
nIN2	MUM1	0.307609075	6.34E-06	Unclassified	BrainSpLMD|84939;Eurexp|euxassay_005157|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lung, mantle layer, metanephros, molar, naris, olfactory, respiratory, retina, thoracic, thymus primordium, tongue, trigeminal V, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	
nIN2	PRDX5	0.563913139	6.38E-06	Enzyme: Oxidoreductase	BrainSpLMD|25824	OMIM|606583
nIN2	RP11.466H18.1	0.417116998	6.50E-06			
nIN2	PPP1R12A	0.339835337	6.63E-06	Regulatory/other subunit	BrainSpLMD|4659	OMIM|602021
nIN2	GTF2IP1	0.518225518	6.76E-06			
nIN2	MRPL42	0.403245858	6.85E-06	Ribosomal subunit	BrainSpLMD|28977	OMIM|611847
nIN2	PTPRA	0.769168629	7.47E-06	Receptor tyrosine phosphatase	BrainSpLMD|5786;Eurexp|euxassay_007474|embryo	OMIM|176884
nIN2	BTG3	1.212685256	7.51E-06	Cell cycle control protein	BrainSpLMD|10950	OMIM|605674
nIN2	RP11.384F7.2	1.651578175	7.53E-06			
nIN2	COPS6	0.339465494	7.68E-06	Cell cycle control protein	BrainSpLMD|10980	OMIM|614729
nIN2	FEZ1	0.423371765	8.04E-06	Unclassified	BrainSpLMD|9638;BrainSpMouseDev|87970	OMIM|604825
nIN2	SPAG9	0.365404829	8.07E-06	Integral membrane protein	BrainSpLMD|9043;Eurexp|euxassay_014482|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vestibulocochlear VIII	OMIM|605430
nIN2	FUS	0.295974282	8.35E-06	RNA binding protein	BrainSpLMD|2521	OMIM|137070;COSMIC||liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma;HPO|2521|Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Decreased muscle mass, Depressivity, Dysarthria, Dyspnea, EMG abnormality, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Gait disturbance, Generalized muscle weakness, Hyperreflexia, Hyporeflexia, Muscle cramps, Neurodegeneration, Neuronal loss in central nervous system, Pain, Paralysis, Postural tremor, Proximal amyotrophy, Pseudobulbar behavioral symptoms, Respiratory failure, Skeletal muscle atrophy, Spasticity, Subcutaneous nodule, Xerostomia
nIN2	SON	0.368623401	8.84E-06	Transcription factor	BrainSpLMD|6651;Eurexp|euxassay_007178|adrenal gland, cervical, cervico-thoracic, dorsal root ganglion, floorplate, glossopharyngeal IX, heart, mantle layer, medulla oblongata, metencephalon, oesophagus, olfactory lobe, thoracic, trigeminal V, vagus X, ventricular layer	OMIM|182465;HPO|6651|Abnormality of the dentition, Abnormality of the ribs, Arachnoid cyst, Autosomal dominant inheritance, Cerebellar hypoplasia, Cleft palate, Cortical visual impairment, Craniosynostosis, Deeply set eye, Depressed nasal bridge, Developmental regression, Downslanted palpebral fissures, Facial asymmetry, Failure to thrive, Feeding difficulties, Flexion contracture, Frontal bossing, Generalized hypotonia, Global developmental delay, Hemivertebrae, High palate, Horseshoe kidney, Hypermetropia, Hypoplasia of the corpus callosum, Intellectual disability, Joint hypermobility, Kyphosis, Low-set ears, Narrow mouth, Optic atrophy, Scoliosis, Short foot, Short philtrum, Short stature, Small hand, Strabismus, Thin upper lip vermilion, Ventriculomegaly, Wide nasal bridge
nIN2	ACAP2	0.493492207	9.24E-06	GTPase activating protein	BrainSpLMD|23527	OMIM|607766
nIN2	BIRC6	0.506329702	9.42E-06	Adapter molecule	BrainSpLMD|57448	SFARI||Autism, No category;OMIM|605638;COSMIC||melanoma, gastric adenocarcinoma, lung adenocarcinoma
nIN2	DLX1	0.842155007	9.79E-06	Transcription factor	BrainSpLMD|1745;Eurexp|euxassay_008426|cochlea, epithelium, footplate, handplate, incisor, inner ear, mantle layer, midgut, naso-lacrimal duct, neural retina, oesophagus, paraxial mesenchyme, retina, skeletal muscle, skeleton, stomach, utricle, vibrissa;BrainSpMouseDev|13169	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600029
nIN2	MAGEH1	0.345312972	9.79E-06	Cell cycle control protein	BrainSpLMD|28986;Eurexp|euxassay_005123|adenohypophysis, brain, cervical, cervico-thoracic, glossopharyngeal IX, mandible, maxilla, olfactory, respiratory, retina, spinal cord, sternum, tail, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|300548
nIN2	USP15	0.582684404	9.90E-06	Ubiquitin proteasome system protein	BrainSpLMD|9958;Eurexp|euxassay_005002|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, olfactory, respiratory, spinal cord, submandibular gland primordium, thoracic, thymus primordium, trigeminal V	SFARI||Autism, 3 - Suggestive evidence;OMIM|604731
nIN2	RP11.425L10.1	0.547406366	1.09E-05			
nIN2	FTLP3	0.357476248	1.11E-05			
nIN2	BMPR2	0.426454036	1.13E-05	Receptor serine/threonine kinase	BrainSpLMD|659;Eurexp|euxassay_008027|dorsal root ganglion, glossopharyngeal IX, neural retina, trigeminal V;BrainSpMouseDev|11954	OMIM|600799;HPO|659|Abnormal thrombosis, Arterial intimal fibrosis, Autosomal dominant inheritance, Dyspnea, Elevated jugular venous pressure, Elevated right atrial pressure, Hypertension, Incomplete penetrance, Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis, Pulmonary venous occlusion, Right ventricular failure, Right ventricular hypertrophy, Telangiectasia
nIN2	CTD.2192J16.15	0.554529643	1.15E-05			
nIN2	FNBP4	0.338652994	1.17E-05	Unclassified	BrainSpLMD|23360	OMIM|615265
nIN2	ZC3H7A	0.298485609	1.18E-05	DNA binding protein	BrainSpLMD|29066;Eurexp|euxassay_007309|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, mandible, mesenchyme, metatarsus, orbito-sphenoid, pelvic girdle, petrous part, phalanx, turbinate, vault of skull	
nIN2	ZNF644	0.305235388	1.21E-05	DNA binding protein	BrainSpLMD|84146	OMIM|614159;HPO|84146|Autosomal dominant inheritance, Severe Myopia
nIN2	RPS19	0.423551887	1.22E-05	Ribosomal subunit	BrainSpLMD|6223	OMIM|603474;HPO|6223|11 pairs of ribs, Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Absent thumb, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Bifid thoracic vertebrae, Cleft palate, Cleft upper lip, Coarctation of aorta, Colon cancer, Congenital hypoplastic anemia, Congestive heart failure, Delayed cranial suture closure, Delayed puberty, Depressed nasal ridge, Downslanted palpebral fissures, Elevated red cell adenosine deaminase activity, Failure to thrive, Fatigue, High palate, Hypertelorism, Hypoplasia of the radius, Hypoplastic coccygeal vertebrae, Hypoplastic ilia, Hypoplastic sacral vertebrae, Infantile onset, Intrauterine growth retardation, Macrocytic anemia, Microcephaly, Micrognathia, Migraine, Myelodysplasia, Narrow chest, Neutropenia, Osteosarcoma, Pallor, Parietal foramina, Partial duplication of thumb phalanx, Premature birth, Reticulocytopenia, Retrognathia, Short neck, Short stature, Short thumb, Strabismus, Thrombocytopenia, Thrombocytosis, Triphalangeal thumb, Ventricular septal defect, Webbed neck
nIN2	SETD5	0.31619722	1.24E-05	Unclassified	BrainSpLMD|55209	SFARI||Autism, 1 - High confidence;OMIM|615743;HPO|55209|Abnormally low-pitched voice, Anteverted nares, Anxiety, Astigmatism, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Clinodactyly of the 5th finger, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Downturned corners of mouth, Drooling, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hyperlordosis, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphosis, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phthisis bulbi, Premature birth, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Scoliosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Strabismus, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Upslanted palpebral fissure, Vesicoureteral reflux, Widely spaced teeth
nIN2	RPL4P5	0.250904163	1.25E-05			
nIN2	CNOT4	0.454543065	1.25E-05	Transcription regulatory protein	BrainSpLMD|4850	OMIM|604911
nIN2	RPL7	0.333456823	1.31E-05	Ribosomal subunit		OMIM|604166
nIN2	CBX1	0.533020663	1.31E-05	DNA binding protein	BrainSpLMD|10951;Eurexp|euxassay_018066|cortex, incisor, lung, marginal layer, molar, neural retina, olfactory, orbito-sphenoid, petrous part, pituitary, skeletal muscle, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|604511
nIN2	RP11.773D16.1	0.799393613	1.36E-05			
nIN2	KLHL28	0.314296285	1.37E-05	Unclassified	BrainSpLMD|54813;Eurexp|euxassay_002559|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, stroma, trigeminal V, vestibulocochlear VIII	
nIN2	ATP5O	0.868272141	1.38E-05			
nIN2	UPF3B	0.262244479	1.39E-05	RNA binding protein	BrainSpLMD|65109	SFARI||Autism, 2 - Strong candidate;OMIM|300298;HPO|65109|Abnormality of the musculature, Aplasia/Hypoplasia of the corpus callosum, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Disproportionate tall stature, Frontal bossing, Growth abnormality, High forehead, High palate, Hypoplasia of the maxilla, Intellectual disability, Joint hyperflexibility, Kyphosis, Long face, Long foot, Macrocephaly, Macroorchidism, Mandibular prognathia, Micrognathia, Muscular hypotonia, Narrow chest, Narrow face, Nasal speech, Neurological speech impairment, Pectus carinatum, Pectus excavatum, Prominent forehead, Prominent nasal bridge, Scoliosis, Short philtrum, X-linked recessive inheritance
nIN2	TBCA	0.446614467	1.39E-05	Chaperone	BrainSpLMD|6902;Eurexp|euxassay_009814|mantle layer, ventricular layer	OMIM|610058
nIN2	AC004453.8	0.710957339	1.48E-05			
nIN2	CTD.2287O16.1	0.41724539	1.50E-05			
nIN2	NDUFA9	0.776037814	1.57E-05	Enzyme: Oxidoreductase	BrainSpLMD|4704;Eurexp|euxassay_018912|axial muscle, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, liver, lung, mandible, mantle layer, maxilla, midgut, neural retina, orbito-sphenoid, pancreas, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, vibrissa	OMIM|603834;HPO|4704|Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
nIN2	ANKRD36C	0.581848978	1.61E-05			
nIN2	ZC2HC1A	0.266395635	1.61E-05	Unclassified	BrainSpLMD|51101;Eurexp|euxassay_014698|cochlear component, diencephalon, dorsal root ganglion, facial VII, hindbrain, inferior, medulla oblongata, metencephalon, midbrain, olfactory, spinal cord, superior, telencephalon, trigeminal V, turbinate bones, vagus X, vestibular component	
nIN2	EPC1	0.539365495	1.62E-05	Transcription regulatory protein	BrainSpLMD|80314	OMIM|610999
nIN2	AQR	0.368051134	1.72E-05	Unclassified	BrainSpLMD|9716	OMIM|610548
nIN2	ZSWIM5	1.307322171	1.77E-05	Unclassified		SFARI||Autism, 6 - Evidence does not support role
nIN2	PAICS	0.304916903	1.77E-05	Enzyme: Carboxylase	BrainSpLMD|10606;Eurexp|euxassay_018936|marginal layer, nucleus pulposus, submandibular gland primordium, ventricular layer, vibrissa	OMIM|172439
nIN2	RASA1	0.890621486	1.77E-05	GTPase activating protein	BrainSpLMD|5921	OMIM|139150;HPO|5921|Abnormal bleeding, Arteriovenous fistula, Arteriovenous malformation, Autosomal dominant inheritance, Basal cell carcinoma, Capillary hemangiomas, Hypertrophy of the lower limb, Hypertrophy of the upper limb, Nevus flammeus, Peripheral arteriovenous fistula, Telangiectasia of the skin, Varicose veins
nIN2	MIR4426	0.420570806	1.97E-05			
nIN2	APPBP2	0.333122525	2.12E-05	Adapter molecule	BrainSpLMD|10513	OMIM|605324
nIN2	HNRNPH1	0.312144749	2.17E-05	Ribonucleoprotein	BrainSpLMD|3187	OMIM|601035
nIN2	C19orf53	0.291647053	2.26E-05	Unclassified	BrainSpLMD|28974	
nIN2	VEZF1	0.865287783	2.27E-05	Transcription factor	BrainSpLMD|7716	OMIM|606747
nIN2	PTCD3	0.412134288	2.34E-05	Unclassified	BrainSpLMD|55037	OMIM|614918
nIN2	TMSB4X	0.55239754	2.41E-05	Cytoskeletal associated protein		OMIM|300159
nIN2	INA	1.639710229	2.47E-05	Cytoskeletal protein	BrainSpLMD|9118;Eurexp|euxassay_012424|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|605338
nIN2	ZC3H13	0.478216693	2.49E-05	Transcription regulatory protein	BrainSpLMD|23091	OMIM|616453
nIN2	KIAA1715	0.844611416	2.52E-05			
nIN2	KLHL23	0.762449244	2.59E-05	Cytoskeletal associated protein	BrainSpLMD|151230;Eurexp|euxassay_008410|embryo	
nIN2	HNRNPA1L2	1.106866855	2.63E-05	RNA binding protein		
nIN2	SLC30A9	0.79428975	2.71E-05	Transcription regulatory protein	BrainSpLMD|10463;Eurexp|euxassay_010926|facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|604604
nIN2	OTUD6B.AS1	0.980872662	2.79E-05			
nIN2	SNRPN	0.537930272	2.82E-05	Ribonucleoprotein	BrainSpLMD|6638;Eurexp|euxassay_015728|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, hindgut, incisor, midbrain, midgut, neural retina, olfactory, penis, respiratory, spinal cord, stomach, stroma, submandibular gland primordium, telencephalon, testis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	SFARI||Autism, 5 - Hypothesized but untested;OMIM|182279;HPO|6638|Abdominal obesity, Almond-shaped palpebral fissure, Attention deficit hyperactivity disorder, Autism, Childhood onset, Clinodactyly, Clitoral hypoplasia, Cutaneous photosensitivity, Decreased fetal movement, Decreased muscle mass, Delayed puberty, Delayed speech and language development, Dolichocephaly, Downturned corners of mouth, EEG abnormality, Failure to thrive in infancy, Generalized hypopigmentation, Generalized hypotonia, Global developmental delay, Growth hormone deficiency, Heterogeneous, Hyperinsulinemia, Hypermetropia, Hypogonadotrophic hypogonadism, Hypoplastic labia minora, Hypoventilation, Impaired ability to form peer relationships, Impaired pain sensation, Impaired use of nonverbal behaviors, Increased serum serotonin, Infertility, Inflexible adherence to routines or rituals, Intellectual disability, Kyphosis, Lack of spontaneous play, Micropenis, Motor delay, Multifactorial inheritance, Narrow forehead, Narrow nasal bridge, Narrow palm, Nasal speech, Obesity, Oligomenorrhea, Polyphagia, Poor gross motor coordination, Poor suck, Recurrent respiratory infections, Restrictive behavior, Scoliosis, Seizures, Short foot, Short palm, Short stature, Sleep apnea, Small hand, Specific learning disability, Sporadic, Stereotypy, Thin upper lip vermilion, Ventriculomegaly
nIN2	TBRG1	0.428771625	2.85E-05	DNA binding protein	BrainSpLMD|84897;Eurexp|euxassay_001972|Meckel's cartilage, basisphenoid bone, frontal bone primordium, incisor, molar, orbito-sphenoid, turbinate	OMIM|610614
nIN2	FAM107B	0.476076538	2.87E-05	Unclassified	BrainSpLMD|83641;Eurexp|euxassay_000675|thymus primordium	
nIN2	RPL21	0.357474865	3.00E-05	Ribosomal subunit		OMIM|603636;HPO|6144|Alopecia, Aplasia/Hypoplasia of the eyebrow, Autosomal dominant inheritance, Hypotrichosis, Hypotrichosis of the scalp, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Sparse or absent eyelashes
nIN2	ACTR2	0.701227243	3.46E-05	Cytoskeletal protein	BrainSpLMD|10097	OMIM|604221
nIN2	MPHOSPH8	0.533999543	3.47E-05	Cell cycle control protein	BrainSpLMD|54737	OMIM|611626
nIN2	TANK	0.672721971	3.57E-05	Adapter molecule	BrainSpLMD|10010;Eurexp|euxassay_010622|mandible, maxilla, submandibular gland primordium	OMIM|603893
nIN2	COMMD3	0.680939395	3.66E-05	Unclassified	BrainSpLMD|23412;Eurexp|euxassay_003440|pancreas, submandibular gland primordium	OMIM|616700
nIN2	AKAP9	0.652011198	3.67E-05	Adapter molecule	BrainSpLMD|10142;Eurexp|euxassay_007743|embryo	SFARI||Autism, 3 - Suggestive evidence;OMIM|604001;COSMIC||papillary thyroid;HPO|10142|Autosomal dominant inheritance, Prolonged QT interval, Syncope
nIN2	KARS	0.715172667	3.79E-05	Enzyme: Ligase	BrainSpLMD|3735;Eurexp|euxassay_002719|orbito-sphenoid	OMIM|601421;HPO|3735|Areflexia, Autosomal recessive inheritance, Distal sensory impairment, Foot dorsiflexor weakness, Global developmental delay, Hearing impairment, Hyporeflexia, Pes cavus, Steppage gait, Vestibular Schwannoma
nIN2	RAB14	0.304581995	3.85E-05	GTPase	BrainSpLMD|51552	OMIM|612673
nIN2	COX6C	0.50426276	3.86E-05	Regulatory/other subunit	BrainSpLMD|1345	OMIM|124090;COSMIC||uterine leiomyoma
nIN2	NELFCD	0.807819169	3.94E-05	Transcription regulatory protein	BrainSpLMD|51497	OMIM|605297
nIN2	ZNF264	0.494042654	3.98E-05	Transcription regulatory protein	BrainSpLMD|9422	OMIM|604668
nIN2	PHAX	0.704014795	4.00E-05	RNA binding protein	BrainSpLMD|51808	OMIM|604924
nIN2	SYNJ2BP	0.282831296	4.01E-05	Integral membrane protein	BrainSpLMD|55333	OMIM|609411
nIN2	NCAN	0.285909261	4.44E-05	Extracellular matrix protein	BrainSpLMD|1463;Eurexp|euxassay_015922|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, intermediate grey horn, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, ventral grey horn, vestibulocochlear VIII	OMIM|600826
nIN2	EVL	0.258003167	4.55E-05	Cytoskeletal protein	BrainSpLMD|51466;BrainSpMouseDev|13803	OMIM|616912
nIN2	TOMM20	0.501116351	4.66E-05	Membrane transport protein	BrainSpLMD|9804	SFARI||Autism, 5 - Hypothesized but untested;OMIM|601848
nIN2	CASK	0.673531072	4.67E-05	Serine/threonine kinase	BrainSpLMD|8573	SFARI||Autism, 4 - Minimal evidence;OMIM|300172;HPO|8573|Absent speech, Broad forehead, Broad nasal tip, Cataract, Cerebellar hypoplasia, Cerebral cortical atrophy, Decreased body weight, Dilated fourth ventricle, Epicanthus, Gait disturbance, Generalized hypotonia, Global developmental delay, High palate, Hyperreflexia, Hypertelorism, Hypohidrosis, Intellectual disability, Intellectual disability, moderate, Large eyes, Long philtrum, Macrotia, Microcephaly, Micrognathia, Muscle weakness, Muscular hypotonia of the trunk, Myopia, Nystagmus, Oval face, Postnatal growth retardation, Progressive microcephaly, Prominent nasal bridge, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Short nose, Short stature, Spasticity, Strabismus, Visual impairment, Wide nasal bridge, X-linked dominant inheritance, X-linked inheritance
nIN2	USP42	0.294265389	4.69E-05	Ubiquitin proteasome system protein		
nIN2	JOSD1	0.718363608	4.78E-05	Unclassified	BrainSpLMD|9929	OMIM|615323
nIN2	C7orf55.LUC7L2	0.259569289	4.85E-05			
nIN2	RLIM	0.439654627	4.90E-05	Transcription regulatory protein	BrainSpLMD|51132;Eurexp|euxassay_006673|embryo	SFARI||Autism, No category;OMIM|300379;HPO|51132|Behavioral abnormality, Broad forehead, Cryptorchidism, Feeding difficulties, Fine hair, Global developmental delay, Hypertelorism, Intellectual disability, Microcephaly, Micrognathia, Poor speech, Prominent nose, Wide nasal bridge, X-linked recessive inheritance
nIN2	TIMM17A	0.521671986	4.96E-05	Enzyme: Translocase	BrainSpLMD|10440	OMIM|605057
nIN2	SPCS3	0.250788986	5.04E-05	Protease	BrainSpLMD|60559	
nIN2	PFDN1	0.479309105	5.16E-05	Chaperone	BrainSpLMD|5201	OMIM|604897
nIN2	C19orf43	0.837311648	5.23E-05			
nIN2	PSMC4	0.578652507	5.30E-05	Ubiquitin proteasome system protein	BrainSpLMD|5704;Eurexp|euxassay_003493|dorsal root ganglion, facial VII, glossopharyngeal IX, left, pancreas, right, submandibular gland primordium, trigeminal V, vagus X, vibrissa	OMIM|602707
nIN2	NRDE2	0.732655602	5.31E-05	RNA binding protein	BrainSpLMD|55051	
nIN2	LAMTOR3	0.264590563	5.42E-05	Adapter molecule	BrainSpLMD|8649	OMIM|603296
nIN2	AC013394.2	0.456605683	5.45E-05			
nIN2	CBX3	0.264370665	5.56E-05	DNA binding protein	BrainSpLMD|11335	OMIM|604477
nIN2	PPP2R3A	0.769140414	5.59E-05	Serine/threonine phosphatase;Regulatory/other subunit	BrainSpLMD|5523;Eurexp|euxassay_012481|skeletal muscle, ventricle, vertebral axis muscle system	OMIM|604944
nIN2	STAT3	0.488321104	5.59E-05	Transcription factor	BrainSpLMD|6774;Eurexp|euxassay_004868|axial skeleton, choroid invagination, dorsal grey horn, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mantle layer, mesenchyme, metatarsus, phalanx, thymus primordium, trigeminal V, ventral grey horn, ventricular layer;BrainSpMouseDev|20610	OMIM|102582;COSMIC||T-cell large granular lymphocytic leukaemia, paediatric large granular lymphocytic leukaemia, IPEX-like syndrome;HPO|6774|Abnormal heart morphology, Abnormality of the hair, Arthrogryposis multiplex congenita, Atelectasis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Autosomal dominant inheritance, Bilateral ptosis, Celiac disease, Chronic otitis media, Cleft palate, Coarse facial features, Contractures of the joints of the lower limbs, Cough, Decreased antibody level in blood, Deeply set eye, Dehydration, Delayed eruption of teeth, Downturned corners of mouth, Dystrophic fingernails, Eczema, Eczematoid dermatitis, Eosinophilia, Failure to thrive, Frontal bossing, Generalized abnormality of skin, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Gingivitis, Global developmental delay, Glycosuria, High palate, Hyperglycemia, Hypertelorism, Hypovolemia, Increased IgE level, Infantile onset, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Ketonuria, Microalbuminuria, Motor delay, Neonatal insulin-dependent diabetes mellitus, Osteopenia, Papule, Paronychia, Persistence of primary teeth, Prominent forehead, Prominent metopic ridge, Pruritus, Recurrent Staphylococcus aureus infections, Recurrent fractures, Recurrent fungal infections, Recurrent respiratory infections, Recurrent sinopulmonary infections, Reduced pancreatic beta cells, Retinopathy, Scoliosis, Short stature, Skin rash, Skin ulcer, Weight loss, Wide nasal bridge, Wide nose
nIN2	CLASP1	0.564103356	5.66E-05	Cytoskeletal associated protein	BrainSpLMD|23332	SFARI||Autism, 3 - Suggestive evidence;OMIM|605852
nIN2	PHTF2	0.542470242	5.66E-05	Transcription factor	BrainSpLMD|57157;Eurexp|euxassay_004990|embryo;BrainSpMouseDev|44612	OMIM|616785
nIN2	BCL11B	0.562038226	5.87E-05	Transcription regulatory protein;DNA binding protein	BrainSpLMD|64919;BrainSpMouseDev|37240	OMIM|606558;COSMIC||T-ALL;HPO|64919|Absent speech, Autosomal dominant inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hirsutism, Hypertelorism, Inflammatory abnormality of the skin, Intellectual disability, Micrognathia, Natal tooth, Pulmonary artery stenosis, Seizures, Severe combined immunodeficiency, Short palpebral fissure, Spastic tetraplegia, Umbilical hernia, Wormian bones
nIN2	HNRNPDL	0.314639775	6.49E-05	Ribonucleoprotein	BrainSpLMD|9987	OMIM|607137;HPO|9987|Adult onset, Autosomal dominant inheritance, Cataract, Decreased movement range in interphalangeal joints, Elevated serum creatine phosphokinase, Flexion limitation of toes, Incomplete penetrance, Limb-girdle muscular dystrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyotrophy, Proximal upper limb amyotrophy, Rimmed vacuoles, Shoulder girdle muscle weakness, Slow progression
nIN2	GRIA4	1.52956271	6.54E-05	Extracellular ligand gated channel	BrainSpLMD|2893;Eurexp|euxassay_006297|bladder, brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, ductus deferens, facial VII, incisor, loop, medulla, metanephros, molar, neural retina, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|14578	OMIM|138246
nIN2	FAM96B	0.555220805	6.56E-05	Unclassified	BrainSpLMD|51647	OMIM|614778
nIN2	NGDN	0.51033464	6.62E-05	Unclassified	BrainSpLMD|25983	OMIM|610777
nIN2	RPS11P5	0.278768982	6.64E-05			
nIN2	ATP5C1	0.3836484	6.79E-05			
nIN2	ERP44	0.251184675	6.80E-05	Unclassified	BrainSpLMD|23071;Eurexp|euxassay_001975|Meckel's cartilage, incisor, molar, orbito-sphenoid	OMIM|609170
nIN2	FTL	0.342866834	6.91E-05	Storage protein	BrainSpLMD|2512	OMIM|134790;HPO|2512|Abnormality of metabolism/homeostasis, Anarthria, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Blepharospasm, Bradykinesia, Cataract, Cavitation of the basal ganglia, Chorea, Choreoathetosis, Congenital nuclear cataract, Decreased serum ferritin, Dementia, Disinhibition, Dysarthria, Dysphagia, Dysphonia, Dystonia, Emotional lability, Gait disturbance, Hyperreflexia, Hypomimic face, Increased serum ferritin, Laryngeal dystonia, Mutism, Neurodegeneration, Optic atrophy, Orofacial dyskinesia, Parkinsonism, Phenotypic variability, Progressive, Retinal degeneration, Rigidity, Spastic diplegia, Spasticity, Tremor, Writer's cramp
nIN2	CALM3	0.315884943	6.93E-05	Calcium binding protein	BrainSpLMD|808	OMIM|114183;HPO|808|Ventricular tachycardia, Vertigo
nIN2	TRIP11	0.767503916	7.02E-05	Ligand	BrainSpLMD|9321	OMIM|604505;COSMIC||AML;HPO|9321|Abdominal distention, Abnormal enchondral ossification, Abnormal foot bone ossification, Abnormal hand bone ossification, Abnormality of the femoral metaphysis, Anteverted nares, Aplasia/Hypoplasia of the lungs, Autosomal recessive inheritance, Barrel-shaped chest, Beaded ribs, Broad clavicles, Decreased skull ossification, Depressed nasal bridge, Disproportionate short-trunk short stature, Femoral hernia, Flat face, Frontal bossing, Hydrops fetalis, Hypoplasia of the radius, Hypoplastic ischia, Hypoplastic scapulae, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Multiple rib fractures, Narrow chest, Polyhydramnios, Protuberant abdomen, Recurrent fractures, Severe short stature, Short clavicles, Short foot, Short neck, Short nose, Short palm, Short ribs, Short thorax, Stillbirth, Thickened nuchal skin fold, Umbilical hernia, Unossified vertebral bodies
nIN2	RLF	0.513424234	7.10E-05	Transcription factor	BrainSpLMD|6018	OMIM|180610
nIN2	PRPF6	0.725782012	7.31E-05	Adapter molecule	BrainSpLMD|24148	OMIM|613979;HPO|24148|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Reduced visual acuity, Rod-cone dystrophy, Sensorineural hearing impairment, Visual impairment, Wide nasal bridge
nIN2	ZNF250	0.46148404	7.33E-05	Transcription regulatory protein	BrainSpLMD|58500;Eurexp|euxassay_006176|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hypothalamus, lateral wall, mantle layer, mesenchyme, midbrain, midgut, retina, stomach, stroma, tegmentum, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|88584	
nIN2	ATP5A1	0.332222196	7.34E-05			
nIN2	ARIH1	0.400048005	7.37E-05	Ubiquitin proteasome system protein	BrainSpLMD|25820	OMIM|605624
nIN2	PRPF38A	0.575790647	7.50E-05	Unclassified	BrainSpLMD|84950;Eurexp|euxassay_001967|incisor, submandibular gland primordium, vibrissa	OMIM|617031
nIN2	TMEM87A	0.364042937	7.63E-05	Integral membrane protein	BrainSpLMD|25963	
nIN2	ANKRD26	0.476183272	7.63E-05	Unclassified	BrainSpLMD|22852	OMIM|610855;HPO|22852|Autosomal dominant inheritance, Bruising susceptibility, Thrombocytopenia
nIN2	KIAA1549	1.057395841	7.99E-05	Unclassified	BrainSpLMD|57670;Eurexp|euxassay_013378|brain, cartilaginous ring, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, metanephros, molar, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613344;COSMIC||pilocytic astrocytoma
nIN2	CTC.575D19.1	0.823058217	8.08E-05			
nIN2	CAPN7	0.706691992	8.11E-05	Cysteine protease	BrainSpLMD|23473	OMIM|606400
nIN2	TRAPPC6B	1.229647099	8.13E-05	Unclassified	BrainSpLMD|122553;Eurexp|euxassay_006829|cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|610397
nIN2	ZCCHC11	0.561447999	8.22E-05	DNA binding protein	BrainSpLMD|23318	OMIM|613692
nIN2	TXN	0.289667504	8.49E-05	Enzyme: Reductase	Eurexp|euxassay_000861|basal plate, skeleton, submandibular gland primordium	OMIM|187700
nIN2	SEC11A	0.512267641	8.59E-05	Aminopeptidase	BrainSpLMD|23478;Eurexp|euxassay_003417|Meckel's cartilage, basisphenoid bone, calyces, cervical, cervico-thoracic, clavicle, dorsal root ganglion, glossopharyngeal IX, incisor, mantle layer, olfactory, orbital fissure, orbito-sphenoid, pancreas, respiratory, submandibular gland primordium, testis, thoracic, trigeminal V, vagus X, ventral grey horn, vibrissa	
nIN2	AIMP1	0.412741613	9.17E-05	Cytokine	BrainSpLMD|9255	OMIM|603605;HPO|9255|Abnormal pyramidal signs, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Coarse facial features, Corpus callosum atrophy, Death in infancy, Diffuse cerebral sclerosis, EEG abnormality, Failure to thrive, Global brain atrophy, Global developmental delay, Kyphoscoliosis, Leukodystrophy, Microcephaly, Muscular hypotonia of the trunk, Premature birth, Progressive, Progressive flexion contractures, Projectile vomiting, Seizures, Spastic paraparesis, Sudanophilic leukodystrophy, Visual impairment
nIN2	ARL14EP	0.397608086	9.32E-05	Unclassified	Eurexp|euxassay_012294|olfactory, ventricular layer	OMIM|612295
nIN2	PWP1	0.607865832	9.46E-05	Transcription regulatory protein	BrainSpLMD|11137;Eurexp|euxassay_003751|trachea	
nIN2	CMIP	1.307905308	9.62E-05		BrainSpLMD|80790	SFARI||Autism, No category;OMIM|610112
nIN2	NPIPA5	0.950651838	9.92E-05			
nIN2	LAMTOR5	0.408815923	0.000101276	Unclassified	BrainSpLMD|10542	OMIM|608521
nIN2	ATP6V1A	0.565538193	0.000105372	Transport/cargo protein	BrainSpLMD|523;Eurexp|euxassay_004518|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|607027;HPO|523|Abnormal apolipoprotein level, Abnormal isoelectric focusing of serum transferrin, Abnormal subcutaneous fat tissue distribution, Broad nasal tip, Carious teeth, Cerebellar hypoplasia, Coarse hair, Congenital hip dislocation, Dandy-Walker malformation, Decreased muscle mass, Delayed closure of the anterior fontanelle, Delayed speech and language development, Dementia, Downslanted palpebral fissures, Excessive wrinkled skin, Failure to thrive, Feeding difficulties, Fragmented elastic fibers in the dermis, Generalized joint laxity, Global developmental delay, High palate, Hypertelorism, Infantile muscular hypotonia, Inguinal hernia, Intellectual disability, profound, Intrauterine growth retardation, Lipodystrophy, Lissencephaly, Long philtrum, Low-set ears, Malar flattening, Motor delay, Pachygyria, Polymicrogyria, Poor speech, Postnatal growth retardation, Progressive microcephaly, Prominent nasolabial fold, Prominent veins on trunk, Psychomotor deterioration, Redundant neck skin, Seizures, Severe Myopia, Short nose, Short stature, Smooth philtrum, Sparse hair, Spasticity, Strabismus, Subretinal pigment epithelium hemorrhage, Thick cerebral cortex, Thick hair
nIN2	PWAR6	0.48806318	0.000106219			
nIN2	PAK7	0.483748339	0.000106733			
nIN2	MED28	0.515828709	0.000108987	Transcription regulatory protein	BrainSpLMD|80306	OMIM|610311
nIN2	H3F3A	0.288956611	0.000111356	DNA binding protein		OMIM|601128;COSMIC||glioma
nIN2	FAU	0.433307683	0.00011362	Ubiquitin proteasome system protein	BrainSpLMD|2197	OMIM|134690
nIN2	ATXN3	0.698657548	0.000116985	Protease	BrainSpLMD|4287	OMIM|607047;HPO|4287|Abnormal electrooculogram, Absent Achilles reflex, Autosomal dominant inheritance, Babinski sign, Bradykinesia, Cerebellar atrophy, Chronic pain, Dementia, Dilated fourth ventricle, Diplopia, Distal amyotrophy, Dysmetric saccades, Dysphagia, Facial-lingual fasciculations, Genetic anticipation, Gliosis, Impaired horizontal smooth pursuit, Impaired vibratory sensation, Limb ataxia, Muscle cramps, Postural instability, Progressive, Progressive cerebellar ataxia, Proptosis, Ptosis, Rigidity, Spinocerebellar tract degeneration, Supranuclear ophthalmoplegia, Truncal ataxia, Urinary bladder sphincter dysfunction
nIN2	PDCL	1.163401705	0.000119342	Regulatory/other subunit	BrainSpLMD|5082	OMIM|604421
nIN2	CWC22	0.388977649	0.000119693	Unclassified		OMIM|615186
nIN2	MED4	0.532670122	0.000121156	Translation regulatory protein	BrainSpLMD|29079	OMIM|605718
nIN2	SRSF11	0.491920399	0.000126048	Transcription regulatory protein	BrainSpLMD|9295	SFARI||Autism, 2 - Strong candidate;OMIM|602010
nIN2	SMAD5	0.464114344	0.000126378	Transcription regulatory protein	BrainSpLMD|4090;Eurexp|euxassay_019553|incisor, lung, mantle layer, metanephros, molar, saccule, spleen primordium, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|16899	OMIM|603110
nIN2	SCYL2	0.531172947	0.000128825	Serine/threonine kinase	BrainSpLMD|55681	OMIM|616365
nIN2	RNF2	0.383043339	0.000129493	Ubiquitin proteasome system protein	BrainSpLMD|6045	OMIM|608985
nIN2	ZSWIM6	0.585708024	0.000130082		Eurexp|euxassay_012565|mandible, mantle layer, maxilla	OMIM|615951;HPO|57688|Agenesis of corpus callosum, Autosomal dominant inheritance, Bifid nose, Brachycephaly, Broad nasal tip, Choroid plexus cyst, Cleft palate, Cleft upper lip, Encephalocele, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Large sella turcica, Meningocele, Preaxial polydactyly, Retrocerebellar cyst, Seizures, Syndactyly, Talipes equinovarus, Telecanthus, Thick nail, Thick nasal alae, Ventriculomegaly
nIN2	DERL2	0.46685212	0.000133969	Integral membrane protein	BrainSpLMD|51009	OMIM|610304
nIN2	CELF1	0.457739842	0.000135667	RNA binding protein	BrainSpLMD|10658	OMIM|601074
nIN2	RP3.368A4.5	0.610226761	0.000136587			
nIN2	ZNF721	0.327668977	0.000137398	DNA binding protein	BrainSpLMD|170960	
nIN2	RPL27	0.705418981	0.000141136	Ribosomal subunit		OMIM|607526;HPO|6155|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Anemia, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Macrocytic anemia, Migraine, Pallor, Pulmonic stenosis
nIN2	SUCO	0.551184731	0.000141678	Integral membrane protein	BrainSpLMD|51430	
nIN2	HERC2	0.252116934	0.000143479	Ubiquitin proteasome system protein	BrainSpLMD|8924;Eurexp|euxassay_014975|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|605837;HPO|8924|Abdominal obesity, Aggressive behavior, Almond-shaped palpebral fissure, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Blue irides, Clinodactyly, Clitoral hypoplasia, Cutaneous photosensitivity, Decreased fetal movement, Decreased muscle mass, Delayed puberty, Delayed speech and language development, Dolichocephaly, Downturned corners of mouth, Failure to thrive in infancy, Generalized hypopigmentation, Generalized hypotonia, Global developmental delay, Growth hormone deficiency, Hyperactivity, Hyperinsulinemia, Hypermetropia, Hypogonadotrophic hypogonadism, Hypoplastic labia minora, Hypoventilation, Impaired pain sensation, Infantile onset, Infertility, Intellectual disability, Kyphosis, Mandibular prognathia, Micropenis, Motor delay, Narrow forehead, Narrow nasal bridge, Narrow palate, Narrow palm, Nasal speech, Obesity, Oligomenorrhea, Plagiocephaly, Polyphagia, Poor gross motor coordination, Poor suck, Recurrent respiratory infections, Sandal gap, Scoliosis, Self-mutilation, Short foot, Short palm, Short stature, Sleep apnea, Small hand, Specific learning disability, Sporadic, Strabismus, Thin upper lip vermilion, Unsteady gait, Ventriculomegaly
nIN2	SMDT1	0.457565343	0.000145679	Unclassified	BrainSpLMD|91689;Eurexp|euxassay_006832|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, orbito-sphenoid, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa	OMIM|615588
nIN2	RPS7P1	0.311580328	0.000146599			
nIN2	RPL7A	0.347821205	0.000148783	Ribosomal subunit	Eurexp|euxassay_005917|embryo	OMIM|185640
nIN2	HELZ	0.324234245	0.000148894	RNA helicase	BrainSpLMD|9931	OMIM|606699
nIN2	FAM214A	0.628517922	0.000150039	Unclassified	Eurexp|euxassay_003223|Meckel's cartilage, adrenal gland, incisor, mesenchyme, molar, pituitary, rib, testis	
nIN2	WI2.1896O14.1	1.598454822	0.000151891			
nIN2	WBP11	0.478438861	0.000155023	RNA binding protein	BrainSpLMD|51729	
nIN2	ASXL1	0.522652182	0.000156692	Transcription regulatory protein	BrainSpLMD|171023	OMIM|612990;COSMIC||MDS, CMML, Bohring-Opitz syndrome;HPO|171023|Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Abnormality of the optic nerve, Abnormality of the pancreas, Accessory oral frenulum, Agenesis of corpus callosum, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Biparietal narrowing, Broad alveolar ridges, Broad palm, Camptodactyly, Camptodactyly of finger, Cerebral cortical atrophy, Cleft palate, Cleft upper lip, Convex nasal ridge, Dandy-Walker malformation, Death in infancy, Deep palmar crease, Deep plantar creases, Delayed peripheral myelination, Dislocated radial head, Elbow dislocation, Facial hemangioma, Failure to thrive, Feeding difficulties, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Heterotopia, Hirsutism, Hyperechogenic pancreas, Hypertelorism, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, profound, Intellectual disability, severe, Intestinal malrotation, Intrauterine growth retardation, Limitation of joint mobility, Long face, Low anterior hairline, Low-set ears, Mesomelic/rhizomelic limb shortening, Microcephaly, Micrognathia, Myelodysplasia, Myopia, Narrow chest, Narrow forehead, Narrow palate, Nevus flammeus, Nevus flammeus of the forehead, Overlapping toe, Platyspondyly, Polyhydramnios, Posteriorly rotated ears, Prominent forehead, Prominent metopic ridge, Proptosis, Retinopathy, Retrognathia, Sacral dimple, Seizures, Short thorax, Short toe, Somatic mutation, Strabismus, Supernumerary nipple, Syndactyly, Synophrys, Tapered finger, Thick hair, Trigonocephaly, Ulnar deviation of finger, Ulnar deviation of the wrist, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Vesicoureteral reflux, Wide intermamillary distance, Wide nasal bridge
nIN2	ARFGEF1	0.674586198	0.00015815	Guanine nucleotide exchange factor	BrainSpLMD|10565	OMIM|604141
nIN2	RP11.572P18.1	0.446027551	0.000168264			
nIN2	RSRC1	0.70701214	0.000169886	Unclassified	BrainSpLMD|51319	OMIM|613352
nIN2	CACYBP	0.522523506	0.000169968	Ubiquitin proteasome system protein	BrainSpLMD|27101;Eurexp|euxassay_006213|brain, cervical, cervico-thoracic, cortex, diencephalon, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, left, mandible, maxilla, midbrain, molar, olfactory, orbito-sphenoid, right, spinal cord, submandibular gland primordium, telencephalon, thoracic, thymus primordium, trigeminal V, vertebral axis muscle system, vibrissa	OMIM|606186
nIN2	CEBPZOS	1.000205965	0.00017154			
nIN2	PSME1	0.390749045	0.00017645	Ubiquitin proteasome system protein	BrainSpLMD|5720	OMIM|600654
nIN2	LINC00493	0.580881171	0.000177283			
nIN2	THOC1	1.13360185	0.000177356	Transcription regulatory protein	BrainSpLMD|9984;Eurexp|euxassay_006725|embryo	OMIM|606930
nIN2	RPLP2	0.66593881	0.000181514	Ribosomal subunit		OMIM|180530
nIN2	PGD	0.656163766	0.000182932	Enzyme: Dehydrogenase	BrainSpLMD|5226;Eurexp|euxassay_010515|adrenal gland, axial muscle, dorsal root ganglion, liver, lung, mandible, maxilla, metanephros, midgut, orbito-sphenoid, stomach, thymus primordium	OMIM|172200
nIN2	GOLGA7	0.354603769	0.000187763	Integral membrane protein	BrainSpLMD|51125	OMIM|609453
nIN2	CNBP	0.255333444	0.000188143	RNA binding protein	BrainSpLMD|7555	OMIM|116955;COSMIC||aneurysmal bone cyst;HPO|7555|Autosomal dominant inheritance, Cataract, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, Elevated serum creatine phosphokinase, Frontal balding, Hypogonadism, IgG deficiency, IgM deficiency, Insulin insensitivity, Iridescent posterior subcapsular cataract, Myalgia, Myotonia, Neck flexor weakness, Oligospermia, Palpitations, Proximal muscle weakness, Tachycardia, Type 2 muscle fiber atrophy
nIN2	CDK13	0.421617994	0.000190092	Serine/threonine kinase	BrainSpLMD|8621	OMIM|603309;HPO|8621|Atrial septal defect, Autosomal dominant inheritance, Camptodactyly, Clinodactyly, Delayed speech and language development, Epicanthus, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hypertelorism, Intellectual disability, Joint hypermobility, Narrow mouth, Posteriorly rotated ears, Ptosis, Short philtrum, Strabismus, Thin upper lip vermilion, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
nIN2	RPL39	0.764392764	0.000194331	Ribosomal subunit		OMIM|300899
nIN2	RPL35AP21	0.313856089	0.000197272			
nIN2	KIAA2026	0.68014401	0.0001974	Unclassified	Eurexp|euxassay_012197|olfactory, vomeronasal organ	
nIN2	AP1G1	0.416724978	0.000201165	Transport/cargo protein	BrainSpLMD|164	OMIM|603533
nIN2	NDUFB3	0.28445976	0.000201293	Enzyme: Oxidoreductase	BrainSpLMD|4709	OMIM|603839;HPO|4709|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
nIN2	TPRKB	0.609063169	0.000204134	Unclassified	BrainSpLMD|51002	OMIM|608680
nIN2	FKBP3	0.63573392	0.000206225	Enzyme: Isomerase	BrainSpLMD|2287	OMIM|186947
nIN2	FOXRED1	0.284282526	0.000206725	Unclassified	BrainSpLMD|55572	OMIM|613622;HPO|55572|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, CNS demyelination, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Dysarthria, Dystonia, Emotional lability, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Gliosis, Global developmental delay, Growth delay, Hepatic failure, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Phenotypic variability, Pigmentary retinopathy, Progressive, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
nIN2	ZAK	1.646322891	0.000206974			
nIN2	KMT2A	0.278449315	0.000214873	Transcription factor	BrainSpLMD|4297	SFARI||Autism, 1 - High confidence;OMIM|159555;COSMIC||AML, ALL;HPO|4297|Abnormally low-pitched voice, Aggressive behavior, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Blepharophimosis, Brachycephaly, Broad-based gait, Clinodactyly of the 5th finger, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Downslanted palpebral fissures, Downturned corners of mouth, Elbow dislocation, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Flat face, Gastroesophageal reflux, Generalized hirsutism, Generalized hypotonia, High palate, Highly arched eyebrow, Hypertelorism, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phthisis bulbi, Premature birth, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short middle phalanx of finger, Short neck, Short nose, Short stature, Short toe, Sleep disturbance, Small hand, Strabismus, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Vesicoureteral reflux, Wide nose, Widely spaced teeth
nIN2	MARK1	0.703728188	0.00022182	Serine/threonine kinase	BrainSpLMD|4139;Eurexp|euxassay_013555|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	SFARI||Autism, 4 - Minimal evidence;OMIM|606511
nIN2	C2CD5	0.721192969	0.000225132	Unclassified	BrainSpLMD|9847	
nIN2	TMEM66	0.307919842	0.000232159			
nIN2	CH17.449C21.1	0.367712324	0.000235229			
nIN2	SMIM14	0.282850357	0.000237928	Unclassified	BrainSpLMD|201895;Eurexp|euxassay_007513|brain, choroid invagination, choroid plexus, clavicle, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, liver, mandible, maxilla, neural retina, orbito-sphenoid, rib, roof plate, scapula, spinal cord, tibia, trigeminal V, vagus X, vestibulocochlear VIII	
nIN2	EIF2AK2	0.338072676	0.000238818	Serine/threonine kinase	BrainSpLMD|5610	OMIM|176871
nIN2	KAT6B	0.612244725	0.000239887	Enzyme: Acyltransferase	BrainSpLMD|23522	OMIM|605880;COSMIC||AML, leiomyoma, Genitopatellar syndrome, Say-Barber-Biesecker/Young-Simpson syndrome;HPO|23522|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of the antihelix, Abnormality of the cheek, Abnormality of the spleen, Agenesis of corpus callosum, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Arthrogryposis multiplex congenita, Atrial septal defect, Atrioventricular canal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bifid uvula, Bilateral single transverse palmar creases, Blepharophimosis, Brachydactyly, Bulbous nose, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Coarse facial features, Coarse hair, Colpocephaly, Congenital hip dislocation, Cryptorchidism, Cystic hygroma, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Downslanted palpebral fissures, Dysarthria, Dysphagia, Ectopic thyroid, Enlarged labia minora, Enlarged thorax, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Fine hair, Generalized hypotonia, Global developmental delay, Hearing impairment, Hepatomegaly, High forehead, High palate, Hip contracture, Hydronephrosis, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplastic ilia, Hypoplastic inferior pubic rami, Hypoplastic ischia, Hypothyroidism, Intellectual disability, Intellectual disability, progressive, Joint hyperflexibility, Knee flexion contracture, Laryngomalacia, Long nose, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Micropenis, Midface retrusion, Multicystic kidney dysplasia, Muscle weakness, Muscular hypotonia, Patellar aplasia, Patellar dislocation, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Periventricular gray matter heterotopia, Polyhydramnios, Posteriorly rotated ears, Prominent nasal bridge, Prominent nose, Prominent occiput, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonary hypoplasia, Recurrent respiratory infections, Retrognathia, Scoliosis, Scrotal hypoplasia, Seizures, Severe short stature, Short palm, Short palpebral fissure, Short phalanx of finger, Short stature, Sloping forehead, Sparse scalp hair, Specific learning disability, Strabismus, Submucous cleft hard palate, Talipes equinovarus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Thyroid agenesis, Thyroid hypoplasia, Triangular face, Ventricular septal defect, Webbed neck, Wide intermamillary distance, Wide nose
nIN2	PCNP	0.684271623	0.000241582	Ubiquitin proteasome system protein	BrainSpLMD|57092	OMIM|615210
nIN2	RP11.3P17.3	0.419794788	0.000242226			
nIN2	PSMD6	0.343276209	0.000245437	Ubiquitin proteasome system protein	BrainSpLMD|9861	
nIN2	RPS6KA5	0.897524624	0.000249291	Serine/threonine kinase	BrainSpLMD|9252	OMIM|603607
nIN2	RP11.587D21.1	0.326145923	0.000257306			
nIN2	RPL6P27	0.702581763	0.000257845			
nIN2	USPL1	0.676582948	0.000258145	Unclassified	BrainSpLMD|10208	OMIM|617470
nIN2	MTDH	0.776471588	0.000259964	Unclassified	BrainSpLMD|92140	OMIM|610323
nIN2	PHF20	0.342401143	0.000259995	Transcription factor	BrainSpLMD|51230	OMIM|610335
nIN2	UBA52	0.291468613	0.000261492	Ribosomal subunit	BrainSpLMD|7311	OMIM|191321
nIN2	DNM3	0.816976578	0.00027035	GTPase	BrainSpLMD|26052	OMIM|611445
nIN2	ACADM	0.430499523	0.000284672	Enzyme: Dehydrogenase	BrainSpLMD|34	OMIM|607008;HPO|34|Autosomal recessive inheritance, Cerebral edema, Coma, Decreased plasma carnitine, Elevated hepatic transaminases, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hepatomegaly, Hyperglycinuria, Hypoglycemia, Lethargy, Medium chain dicarboxylic aciduria, Metabolic acidosis, Seizures, Vomiting
nIN2	CAMK4	0.358619192	0.000300361	Serine/threonine kinase	BrainSpLMD|814;BrainSpMouseDev|12111	SFARI||Autism, 4 - Minimal evidence;OMIM|114080
nIN2	LINC01158	0.374350452	0.000311033			
nIN2	RPL24	0.905973364	0.000313909	Ribosomal subunit		OMIM|604180
nIN2	DAZAP2	0.68271803	0.000315732	RNA binding protein	BrainSpLMD|9802;Eurexp|euxassay_002922|Meckel's cartilage, calyces, incisor, liver, lobe, molar, neural retina, olfactory, pancreas, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|607431
nIN2	MRPL47	0.654303413	0.000324343	Ribosomal subunit	BrainSpLMD|57129	OMIM|611852
nIN2	ZNF260	0.38390897	0.000330724	DNA binding protein	BrainSpLMD|339324	OMIM|613749
nIN2	PRKAR2B	1.371821813	0.000342033	Serine/threonine kinase	BrainSpLMD|5577;Eurexp|euxassay_012279|adrenal gland, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, lobe, midbrain, neural retina, skeletal muscle, spinal cord, submandibular gland primordium, telencephalon, testis, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|176912
nIN2	STARD3NL	0.608222317	0.000343212	Integral membrane protein	BrainSpLMD|83930;Eurexp|euxassay_012114|Meckel's cartilage, arytenoid, axial skeleton, basioccipital bone, basisphenoid bone, cricoid, femur, fibula, humerus, hyoid bone, metacarpus, metatarsus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, sternum, tarsus, thyroid, tibia, turbinate bones, ulna, vault of skull	OMIM|611759
nIN2	RPL21P119	1.214984547	0.00034455			
nIN2	TMEM14A	0.354794032	0.000354598	Integral membrane protein	BrainSpLMD|28978	OMIM|616870
nIN2	RPL21P120	0.343870769	0.000357444			
nIN2	SUN1	0.725388667	0.000359917	Integral membrane protein	BrainSpLMD|23353	OMIM|607723
nIN2	DAP3	0.347775175	0.000360582	Ribosomal subunit	BrainSpLMD|7818	OMIM|602074
nIN2	RSBN1	0.637618303	0.000365144	Transcription regulatory protein	BrainSpLMD|54665	OMIM|615858
nIN2	DHX15	0.534466246	0.00036667	RNA binding protein	BrainSpLMD|1665	OMIM|603403
nIN2	RFX3	0.383868619	0.00036993	Transcription factor	BrainSpLMD|5991	SFARI||Autism, 4 - Minimal evidence;OMIM|601337
nIN2	AP3S1	0.504562998	0.000373336	Adapter molecule	BrainSpLMD|1176	OMIM|601507
nIN2	ZBTB10	0.464662211	0.000392545	Transcription regulatory protein	BrainSpLMD|65986	
nIN2	PTMA	0.313788064	0.00042155	Unclassified	BrainSpLMD|5757	OMIM|188390
nIN2	TMEM170A	0.590522785	0.000422526	Unclassified	BrainSpLMD|124491	
nIN2	RUNX1T1	0.573324125	0.000422917	Transcription regulatory protein	BrainSpLMD|862;Eurexp|euxassay_016597|dorsal grey horn, mantle layer;BrainSpMouseDev|12180	OMIM|133435;COSMIC||AML
nIN2	BOD1L1	0.313822052	0.000428365	Unclassified	BrainSpLMD|259282	OMIM|616746
nIN2	THOC2	0.585136525	0.000438302	Transcription factor	BrainSpLMD|57187	OMIM|300395;HPO|57187|Generalized hypotonia, Gliosis, Intellectual disability, X-linked recessive inheritance
nIN2	RPRD2	0.516597675	0.000438666	Unclassified	BrainSpLMD|23248	OMIM|614695
nIN2	CCNC	0.258236156	0.000442127	Cell cycle control protein	BrainSpLMD|892	OMIM|123838;COSMIC||T-ALL
nIN2	GCC2	0.611765261	0.000442181	Structural protein	BrainSpLMD|9648	OMIM|612711
nIN2	NIPBL	0.923266862	0.000444542	-	BrainSpLMD|25836	SFARI||Autism, No category;OMIM|608667;HPO|25836|2-3 toe syndactyly, Abnormality of the umbilicus, Abnormally low-pitched voice, Anteverted nares, Anxiety, Astigmatism, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Choanal atresia, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Conductive hearing impairment, Congenital diaphragmatic hernia, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Dislocated radial head, Downturned corners of mouth, Duplication of internal organs, Ectopic kidney, Elbow dislocation, Elbow flexion contracture, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Hand oligodactyly, Hiatus hernia, High palate, High, narrow palate, Highly arched eyebrow, Hirsutism, Hypertonia, Hypoplasia of penis, Hypoplasia of the radius, Hypoplastic labia majora, Hypoplastic male external genitalia, Hypoplastic nipples, Hypoplastic radial head, Hypospadias, Inguinal hernia, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Limited elbow extension, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Malrotation of colon, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Optic nerve coloboma, Phenotypic variability, Phocomelia, Phthisis bulbi, Pneumonia, Premature birth, Proptosis, Proximal placement of thumb, Ptosis, Pyloric stenosis, Radioulnar synostosis, Reduced renal corticomedullary differentiation, Seizures, Self-injurious behavior, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Short sternum, Single transverse palmar crease, Sleep disturbance, Small hand, Sporadic, Strabismus, Supernumerary ribs, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Thrombocytopenia, Toe syndactyly, Ventricular septal defect, Vesicoureteral reflux, Weak cry, Widely spaced teeth
nIN2	HUWE1	0.613028941	0.000450734	DNA binding protein	BrainSpLMD|10075	SFARI||Autism, No category;OMIM|300697;HPO|10075|Coarse facial features, Delayed speech and language development, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Intellectual disability, severe, Limited elbow extension, Macrocephaly, Tapered finger, X-linked inheritance
nIN2	TIMM8B	1.038471515	0.000462588	Membrane transport protein	BrainSpLMD|26521;Eurexp|euxassay_005088|axial muscle, cortex, glossopharyngeal IX, incisor, mantle layer, marginal layer, molar, olfactory, respiratory, submandibular gland primordium, testis, thymus primordium, trigeminal V, vagus X, ventricular layer	OMIM|606659
nIN2	PTBP2	0.744776627	0.000464371	RNA binding protein	BrainSpLMD|58155	SFARI||Autism, 4 - Minimal evidence;OMIM|608449
nIN2	RPL7P9	0.381841484	0.000465386			
nIN2	PPHLN1	0.312160234	0.000468507	Structural protein	BrainSpLMD|51535	OMIM|608150
nIN2	C14orf166	0.317623789	0.000472034			
nIN2	CAMLG	0.288217634	0.000477306	Membrane bound ligand	BrainSpLMD|819;Eurexp|euxassay_001896|dorsal root ganglion, trigeminal V	OMIM|601118
nIN2	LEPROT	0.337900233	0.000478979	Integral membrane protein		OMIM|613461
nIN2	RP13.585F24.1	0.349512335	0.000479908			
nIN2	RPL10	0.621521273	0.000480132	Ribosomal subunit	BrainSpLMD|6134;Eurexp|euxassay_015677|embryo	SFARI||Autism, 4 - Minimal evidence;OMIM|312173;COSMIC||T-ALL;HPO|6134|Abnormal facial shape, Ankle contracture, Branchial cyst, Camptodactyly, Cryptorchidism, Dental crowding, Finger syndactyly, Gastroesophageal reflux, Hypospadias, Knee flexion contracture, Laryngomalacia, Mandibular prognathia, Microcephaly, Muscular hypotonia, Protruding ear, Pulmonary artery stenosis, Recurrent infections, Sacral lipoma, Seizures, Self-injurious behavior, Sensorineural hearing impairment, Severe postnatal growth retardation, Single transverse palmar crease, Tapered finger, Thin upper lip vermilion
nIN2	STAT2	0.527424144	0.000488328	Transcription factor	BrainSpLMD|6773	OMIM|600556;HPO|6773|Autosomal recessive inheritance, Variable expressivity
nIN2	COX7C	0.472643562	0.000489179	Regulatory/other subunit		OMIM|603774
nIN2	PCDH17	1.415876065	0.000498954	Adhesion molecule	BrainSpLMD|27253	OMIM|611760
nIN2	GNAQ	0.257148111	0.000507176	G protein	BrainSpLMD|2776	OMIM|600998;COSMIC||uveal melanoma, primary central nervous system melanocytic neoplasms;HPO|2776|Arachnoid hemangiomatosis, Arteriovenous malformation, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Buphthalmos, Capillary hemangiomas, Cerebral cortical atrophy, Choroidal hemangioma, Choroidal melanoma, Ciliary body melanoma, Facial hemangioma, Glaucoma, Hypermelanotic macule, Hyperreflexia, Intellectual disability, Iris melanoma, Macrocephaly, Nevus flammeus, Optic atrophy, Papule, Retinal detachment, Seizures, Sporadic, Strabismus, Stroke, Visual loss
nIN2	TMEM263	0.586804275	0.00051134	Integral membrane protein	BrainSpLMD|90488	
nIN2	CRIPT	0.406889227	0.000516013	Cytoskeletal associated protein	BrainSpLMD|9419;Eurexp|euxassay_003240|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|604594;HPO|9419|Anemia, Anisopoikilocytosis, Anteverted nares, Autosomal recessive inheritance, Brachydactyly, Depressed nasal bridge, Frontal bossing, High forehead, Profound global developmental delay, Proptosis, Recurrent infections, Short digit, Short distal phalanx of finger, Sparse and thin eyebrow, Spotty hypopigmentation, Talipes, Talipes equinovarus, Telecanthus
nIN2	DHX9	0.678140519	0.000517087	Transcription factor	BrainSpLMD|1660;Eurexp|euxassay_010959|brain, cochlea, epithelium, facial VII, glossopharyngeal IX, incisor, left lung, marginal layer, metanephros, midgut, molar, olfactory, pancreas, pharyngo-tympanic tube, retina, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, utricle, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|603115
nIN2	STX16	0.468565944	0.000519076	Transport/cargo protein	BrainSpLMD|8675;Eurexp|euxassay_014483|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vestibulocochlear VIII	OMIM|603666;HPO|8675|Autosomal dominant inheritance, Cataract, Delayed eruption of teeth, Depressed nasal bridge, Elevated circulating parathyroid hormone level, Full cheeks, Hyperphosphatemia, Hypocalcemia, Hypoplasia of dental enamel, Low urinary cyclic AMP response to PTH administration, Nystagmus, Pseudohypoparathyroidism, Round face, Short neck, Short stature, Sporadic
nIN2	NPIPA1	0.253466024	0.000521438	Unclassified		OMIM|606406
nIN2	TRIP12	0.690796276	0.000523418	Transcription regulatory protein	BrainSpLMD|9320	SFARI||Autism, 1 - High confidence;OMIM|604506
nIN2	RAB3GAP2	0.590975323	0.000524351	GTPase activating protein	BrainSpLMD|25782	OMIM|609275;HPO|25782|Abnormal dermatoglyphics, Abnormal toenail morphology, Abnormality of retinal pigmentation, Abnormality of the distal phalanx of finger, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Asymmetry of the ears, Autosomal recessive inheritance, Brachycephaly, Broad fingertip, Broad nasal tip, Cardiomyopathy, Cataract, Cerebral cortical atrophy, Clitoral hypoplasia, Congenital cataract, Congestive heart failure, Cortical visual impairment, Cryptorchidism, Delayed puberty, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, Feeding difficulties in infancy, Flexion contracture, Furrowed tongue, Generalized hirsutism, Global brain atrophy, Global developmental delay, High palate, Hyperlordosis, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypotelorism, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphosis, Lissencephaly, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Macrotia, Malar flattening, Metatarsus adductus, Microcephaly, Microcornea, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Misalignment of teeth, Muscular hypotonia, Muscular hypotonia of the trunk, Optic atrophy, Overlapping toe, Pachygyria, Pectus carinatum, Pectus excavatum, Polymicrogyria, Posteriorly rotated ears, Postnatal growth retardation, Postnatal microcephaly, Prematurely aged appearance, Prominent antitragus, Prominent nasal bridge, Prominent nipples, Recurrent respiratory infections, Scoliosis, Scrotal hypoplasia, Severe global developmental delay, Short metacarpal, Short nose, Short palm, Short phalanx of finger, Short philtrum, Short stature, Short toe, Slender ulna, Spasticity, Talipes equinovarus, Talipes valgus, Tracheomalacia, Ulnar deviation of finger, Undetectable visual evoked potentials, Wide nasal bridge
nIN2	SCARB2	0.468047263	0.000525685	Cell surface receptor	BrainSpLMD|950;Eurexp|euxassay_009131|embryo	OMIM|602257;HPO|950|Abdominal pain, Anemia, Anorexia, Aseptic necrosis, Autosomal recessive inheritance, Bone pain, Bruising susceptibility, Cerebellar atrophy, Delayed puberty, Delayed skeletal maturation, Dysarthria, Dysphagia, EEG with polyspike wave complexes, Focal segmental glomerulosclerosis, Gait ataxia, Generalized seizures, Gingival bleeding, Hepatomegaly, Hypersplenism, Increased bone mineral density, Intention tremor, Kyphosis, Limb ataxia, Morning myoclonic jerks, Myoclonus, Nephropathy, Nephrotic syndrome, Osteolysis, Osteopenia, Pancytopenia, Postural tremor, Proteinuria, Rapidly progressive, Renal insufficiency, Splenomegaly, Thrombocytopenia
nIN2	REEP3	0.5407927	0.000544116	Unclassified	BrainSpLMD|221035;Eurexp|euxassay_004457|digit 1, digit 2, digit 3, digit 4, digit 5, footplate, handplate, lower leg, trigeminal V, valve, ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|609348
nIN2	TOMM7	0.505373276	0.000546804	Transport/cargo protein	BrainSpLMD|54543	OMIM|607980
nIN2	HDAC2	0.934132478	0.000546874	Transcription regulatory protein	BrainSpLMD|3066;BrainSpMouseDev|14958	OMIM|605164
nIN2	WHSC1	0.585102344	0.000554315			
nIN2	TCF4	0.428072357	0.000555418	Transcription factor	BrainSpLMD|6925;BrainSpMouseDev|21174	SFARI||Autism, No category;OMIM|602272;HPO|6925|Abnormal large intestine physiology, Abnormality of the palate, Absent speech, Aggressive behavior, Anteverted nares, Aphasia, Ascites, Astigmatism, Ataxia, Autoimmunity, Autosomal dominant inheritance, Cirrhosis, Clinodactyly, Clubbing, Coarse facial features, Constipation, Cryptorchidism, Cupped ear, Deeply set eye, Dilated superficial abdominal veins, Dysautonomia, Dysphasia, Echolalia, Elevated alkaline phosphatase of hepatic origin, Elevated hepatic transaminases, Encephalopathy, Esophagitis, Failure of eruption of permanent teeth, Failure to thrive, Feeding difficulties, Fever, Full cheeks, Gait ataxia, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Hepatosplenomegaly, Hiatus hernia, Hypoplasia of the corpus callosum, Incoordination, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intermittent hyperventilation, Microcephaly, Micropenis, Misalignment of teeth, Motor delay, Muscular hypotonia, Mutism, Myopia, Narrow foot, Narrow forehead, Open mouth, Palmar telangiectasia, Pes planus, Pes valgus, Portal hypertension, Seizures, Short neck, Short philtrum, Single transverse palmar crease, Sleep apnea, Specific learning disability, Spider hemangioma, Splenomegaly, Strabismus, Tapered finger, Thick vermilion border, Thickened helices, Ulcerative colitis, Upslanted palpebral fissure, Weight loss, Wide mouth, Wide nasal bridge, Widely spaced teeth
nIN2	LSM8	0.346542986	0.000561255	RNA binding protein	BrainSpLMD|51691	OMIM|607288
nIN2	ZNF506	0.66960068	0.000562527	Transcription factor	BrainSpLMD|440515	
nIN2	PDCD11	0.442378743	0.000587914	Transcription regulatory protein	BrainSpLMD|22984;Eurexp|euxassay_005987|thymus primordium	OMIM|612333
nIN2	SLC35E3	0.631109904	0.00058972	Membrane transport protein	BrainSpLMD|55508;Eurexp|euxassay_004678|axial skeleton, clavicle, cranium, cricoid, intervertebral disc, mesenchyme, metatarsus, nasal septum, otic capsule, phalanx, rib, stomach, thyroid, trachea, turbinate bones, vertebral cartilage condensation	
nIN2	SCAF8	0.412247473	0.000590213	RNA binding protein	BrainSpLMD|22828	OMIM|616024
nIN2	DIP2A	0.716976458	0.000594819	Transcription regulatory protein	BrainSpLMD|23181	SFARI||Autism, 3 - Suggestive evidence;OMIM|607711
nIN2	RPS25	0.565745017	0.000606029	Ribosomal subunit	BrainSpLMD|6230	OMIM|180465
nIN2	RPL36	0.404312882	0.00060853	Ribosomal subunit	BrainSpLMD|25873	
nIN2	NDUFS4	0.700003855	0.000617259	Enzyme: Reductase	BrainSpLMD|4724	OMIM|602694;HPO|4724|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, CNS demyelination, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Dysarthria, Dystonia, Emotional lability, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Gliosis, Global developmental delay, Growth delay, Hepatic failure, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Phenotypic variability, Pigmentary retinopathy, Progressive, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
nIN2	THYN1	0.59352416	0.0006209	Unclassified	BrainSpLMD|29087	OMIM|613739
nIN2	RCOR3	0.882602185	0.000623094	DNA binding protein	BrainSpLMD|55758	
nIN2	RPL34	0.538566103	0.000632376	Ribosomal subunit	Eurexp|euxassay_007041|embryo	OMIM|616862
nIN2	RP11.641D5.1	0.484620033	0.000644103			
nIN2	RPS20P14	0.43263025	0.000645708			
nIN2	ZNF280D	0.460086774	0.000648569	Transcription regulatory protein	BrainSpLMD|54816;Eurexp|euxassay_012797|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, retina, spinal cord, trigeminal V, vagus X	
nIN2	RPL35	0.430089673	0.000656911	Ribosomal subunit	BrainSpLMD|11224	
nIN2	RPL39P3	0.530555702	0.000657011			
nIN2	PPM1L	0.558628998	0.000659991	Serine/threonine phosphatase	BrainSpLMD|151742;Eurexp|euxassay_008476|anterior, brain, cervical, cervico-thoracic, cornea, diaphragm, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, left lung, liver, midgut, neural retina, oesophagus, olfactory, paraxial mesenchyme, rest of mesenchyme, right lung, skeletal muscle, spinal cord, stomach, thoracic, thymus primordium, trachea, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|611931
nIN2	ATP5G2	0.637174462	0.000663046			
nIN2	RSBN1L	0.62382147	0.000668944	Unclassified	BrainSpLMD|222194	
nIN2	INIP	0.797457037	0.000678606	Unclassified	BrainSpLMD|58493;Eurexp|euxassay_015774|excretory component, incisor, molar, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|613273
nIN2	RPS27L	0.401811818	0.000696676	Unclassified	BrainSpLMD|51065;Eurexp|euxassay_013950|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, pancreas, primitive seminiferous tubules, rest of mesenchyme, right lung, skeletal muscle, submandibular gland primordium, thymus primordium, tongue, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|612055
nIN2	DHX30	0.264210549	0.000714218	RNA binding protein	BrainSpLMD|22907	OMIM|616423
nIN2	CADM1	0.566924812	0.000727562	Adhesion molecule	BrainSpLMD|23705;Eurexp|euxassay_014807|Meckel's cartilage, brain, cervical, cervico-thoracic, cochlea, cortex, dorsal root ganglion, facial VII, frontal bone primordium, glossopharyngeal IX, incisor, lung, molar, olfactory, orbito-sphenoid, pharyngo-tympanic tube, pituitary, spinal cord, submandibular gland primordium, thoracic, trachea, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|34014	SFARI||Autism, 4 - Minimal evidence;OMIM|605686
nIN2	TSC22D2	0.843973586	0.000727948	Unclassified	BrainSpLMD|9819	OMIM|617724
nIN2	SYT11	0.577856273	0.000729646	Calcium binding protein	BrainSpLMD|23208	OMIM|608741
nIN2	HERC2P2	0.329991066	0.000732607	-		
nIN2	UPF2	0.935406058	0.000736191	RNA binding protein	BrainSpLMD|26019	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605529
nIN2	MRPS5	0.747234683	0.000748671	RNA binding protein	BrainSpLMD|64969	OMIM|611972
nIN2	SOX2	0.658913693	0.000750243	Transcription factor	Eurexp|euxassay_019525|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lung, mantle layer, medulla, midgut, neural retina, oesophagus, olfactory, oral epithelium, pituitary, saccule, stomach, testis, trachea, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|20436	OMIM|184429;COSMIC||NSCLC, oesophageal squamous carcinoma, Microphthalmia and oesophageal atresia syndrome;HPO|6657|Agenesis of corpus callosum, Anophthalmia, Anterior pituitary hypoplasia, Autosomal dominant inheritance, Butterfly vertebrae, Cleft palate, Coloboma, Cryptorchidism, Esophageal atresia, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hemivertebrae, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypospadias, Hypothalamic hamartoma, Microcephaly, Micropenis, Microphthalmia, Missing ribs, Nystagmus, Optic nerve hypoplasia, Patent ductus arteriosus, Postnatal growth retardation, Rib fusion, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Short stature, Spastic diplegia, Spastic tetraplegia, Specific learning disability, Strabismus, Supernumerary ribs, Tracheoesophageal fistula, Ventricular septal defect, Vertebral fusion, Vertebral hypoplasia, Visual impairment, Visual loss
nIN2	TNPO3	0.331769815	0.00079027	Nuclear receptor	BrainSpLMD|23534	OMIM|610032;HPO|23534|Abnormality of lipid metabolism, Abnormality of the intrahepatic bile duct, Abnormality of the thyroid gland, Antinuclear antibody positivity, Biliary cirrhosis, Cirrhosis, Conjugated hyperbilirubinemia, Dermatographic urticaria, Elevated alkaline phosphatase, Hepatic failure, Hepatic fibrosis, Hepatocellular carcinoma, Hyperpigmentation of the skin, Increased IgM level, Jaundice, Onychomycosis, Orthostatic hypotension, Portal hypertension, Pruritus
nIN2	SCAPER	0.342607872	0.000794048	DNA binding protein	BrainSpLMD|49855	OMIM|611611
nIN2	WBP4	0.823063927	0.000809332	RNA binding protein	BrainSpLMD|11193	OMIM|604981
nIN2	RPS21	0.604421164	0.000810218	Ribosomal subunit	BrainSpLMD|6227	OMIM|180477
nIN2	BRK1	0.885999063	0.000821316	Unclassified	BrainSpLMD|55845	OMIM|611183
nIN2	PKD2	0.808244776	0.000838733	Membrane transport protein	BrainSpLMD|5311	OMIM|173910;HPO|5311|Autosomal dominant inheritance, Elevated serum creatinine, Incomplete penetrance, Polycystic kidney dysplasia, Progressive, Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease
nIN2	CD200	0.367614489	0.000845472	Cell surface receptor;Unclassified	BrainSpLMD|4345;Eurexp|euxassay_010522|anterior, aorta, basisphenoid bone, brain, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, mandible, maxilla, neural retina, orbito-sphenoid, radius, rib, scapula, spinal cord, thoracic, tibia, trigeminal V, turbinate bones, ulna, vagus X, vestibulocochlear VIII, vibrissa	OMIM|155970
nIN2	TMEM161B	0.483092528	0.000866969	Integral membrane protein	BrainSpLMD|153396	
nIN2	ZNF662	0.59185377	0.000879492	DNA binding protein	BrainSpLMD|389114	
nIN2	FAM13B	0.491764646	0.000887186	GTPase activating protein	BrainSpLMD|51306	OMIM|609371
nIN2	CRMP1	0.843336537	0.000893165	Enzyme: Hydrolase	BrainSpLMD|1400;Eurexp|euxassay_006182|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, genital tubercle, glossopharyngeal IX, midgut, neural retina, rectum, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602462
nIN2	NPIPA3	0.843091508	0.000919285			
nIN2	KAT6A	0.594145411	0.000920247	Enzyme: Acyltransferase	BrainSpLMD|7994	SFARI||Autism, 3 - Suggestive evidence;OMIM|601408;COSMIC||AML;HPO|7994|Abnormality of the dentition, Atrial septal defect, Autosomal dominant inheritance, Broad nasal tip, Cortical visual impairment, Craniosynostosis, Downturned corners of mouth, Epicanthus, Feeding difficulties, Global developmental delay, Intellectual disability, Low-set ears, Microcephaly, Microretrognathia, Muscular hypotonia, Narrow forehead, Neonatal hypotonia, Neonatal respiratory distress, Patent ductus arteriosus, Plagiocephaly, Posteriorly rotated ears, Prominent nasal bridge, Ptosis, Respiratory distress, Strabismus, Thin upper lip vermilion, Ventricular septal defect
nIN2	FAUP1	0.304103548	0.000937156			
nIN2	GPX4	0.444890521	0.000941421	Enzyme: Peroxidase	BrainSpLMD|2879	OMIM|138322;HPO|2879|11 pairs of ribs, Abnormality of the ribs, Abnormality of the scapula, Arrhythmia, Atrial septal defect, Atrioventricular block, Autosomal recessive inheritance, Brachydactyly, Cardiorespiratory arrest, Cerebellar hypoplasia, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped metacarpal epiphyses, Cupped ribs, Delayed epiphyseal ossification, Delayed skeletal maturation, Depressed nasal bridge, Flared iliac wings, Flat acetabular roof, Focal lissencephaly, Generalized hypotonia, Iliac crest serration, Irregular tarsal bones, Large posterior fontanelle, Long fibula, Metaphyseal chondrodysplasia, Metaphyseal cupping, Metaphyseal irregularity, Muscular hypotonia, Narrow chest, Narrow greater sacrosciatic notches, Platyspondyly, Porencephalic cyst, Posteriorly rotated ears, Redundant skin, Rhizomelia, Rhizomelic arm shortening, Short finger, Short long bone, Short metacarpal, Short neck, Short palm, Short phalanx of finger, Short ribs, Short toe, Spondylometaphyseal dysplasia, Talipes equinovarus, Turricephaly, Widened sacrosciatic notch
nIN2	LSAMP	1.029867607	0.000955207	Adhesion molecule	BrainSpLMD|4045	OMIM|603241
nIN2	SMU1	0.386273616	0.000965744	Unclassified	BrainSpLMD|55234	
nIN2	MPRIP	0.64293623	0.000970511	Cytoskeletal associated protein	BrainSpLMD|23164;Eurexp|euxassay_001470|brain, cervical, cervico-thoracic, dorsal root ganglion, spinal cord, thoracic	OMIM|612935
nIN2	DIMT1	0.922394489	0.000975026	Unclassified	BrainSpLMD|27292;Eurexp|euxassay_001602|ventricular layer	OMIM|612499
nIN2	MIDN	0.356497267	0.000993543	Unclassified		OMIM|606700
nIN2	USMG5	0.447475502	0.001006281			
nIN2	MSH2	0.326243258	0.00101664	DNA repair protein	BrainSpLMD|4436;Eurexp|euxassay_001494|dorsal root ganglion	OMIM|609309;COSMIC||colorectal, endometrial, ovarian, colorectal, endometrial, ovarian;HPO|4436|Abdominal pain, Abnormality of abdomen morphology, Adenoma sebaceum, Anxiety, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary freckling, Basal cell carcinoma, Benign gastrointestinal tract tumors, Benign genitourinary tract neoplasm, Breast carcinoma, Cafe-au-lait spot, Colon cancer, Colonic diverticula, Constipation, Death in early adulthood, Death in infancy, Depressivity, Duodenal adenocarcinoma, Ependymoma, Fatigue, Gastrointestinal hemorrhage, Glioblastoma, Hypermelanotic macule, Hypertonia, Increased intracranial pressure, Irritability, Laryngeal carcinoma, Leukemia, Lymphoma, Malabsorption, Malignant genitourinary tract tumor, Medulloblastoma, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Neoplasm of the stomach, Neuroblastoma, Rhabdomyosarcoma, Sebaceous gland carcinoma, Seizures, Weight loss
nIN2	RPS3AP26	0.379769632	0.001023518			
nIN2	CWC25	0.524861366	0.00102778	Unclassified	BrainSpLMD|54883;Eurexp|euxassay_000128|dermis, epidermis	
nIN2	MAGI2	0.891761164	0.001060836	Unclassified	BrainSpLMD|9863	OMIM|606382
nIN2	BICD2	0.322046563	0.00107324	Structural protein	BrainSpLMD|23299;Eurexp|euxassay_012575|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|609797;HPO|23299|Achilles tendon contracture, Areflexia, Autosomal dominant inheritance, Axial muscle weakness, Difficulty running, Gowers sign, Hyporeflexia, Motor delay, Spinal muscular atrophy, Talipes equinovarus, Toe walking, Variable expressivity, Waddling gait
nIN2	MTSS1	0.282543813	0.001097607	Cytoskeletal associated protein	BrainSpLMD|9788	OMIM|608486
nIN2	DENND4C	0.260422593	0.001121993	Unclassified	BrainSpLMD|55667	
nIN2	DDX50	0.407306401	0.001136674	RNA binding protein	BrainSpLMD|79009;Eurexp|euxassay_005899|embryo	OMIM|610373
nIN2	AMOTL2	0.318277613	0.001145286	Unclassified	BrainSpLMD|51421;Eurexp|euxassay_012626|axial skeleton, ventricular layer	OMIM|614658
nIN2	VPS4B	0.510117106	0.001146446	Transport/cargo protein	BrainSpLMD|9525	OMIM|609983
nIN2	RAD23B	0.433318116	0.001152062	DNA repair protein	BrainSpLMD|5887	OMIM|600062
nIN2	PDXDC1	0.448836393	0.001156296	Enzyme: Decarboxylase		OMIM|614244
nIN2	CCDC93	0.339465054	0.001156431	Unclassified	BrainSpLMD|54520;Eurexp|euxassay_019257|adrenal gland, diencephalon, floorplate, medulla	
nIN2	CNTRL	0.401978701	0.001159605	Unclassified	BrainSpLMD|11064;Eurexp|euxassay_016548|ventricular layer;BrainSpMouseDev|26666	OMIM|605496;COSMIC||MPN, NHL
nIN2	GABBR1	0.536836724	0.001161663	G protein coupled receptor	BrainSpLMD|2550;Eurexp|euxassay_009799|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|33684	OMIM|603540
nIN2	MSL1	0.509744462	0.001173444	Transcription factor		OMIM|614801
nIN2	ZDHHC21	0.366917405	0.001236507	Integral membrane protein	BrainSpLMD|340481	OMIM|614605
nIN2	MPC1	0.349459876	0.001248816	Unclassified	BrainSpLMD|51660;Eurexp|euxassay_014791|adrenal gland, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V	OMIM|614738;HPO|51660|Autosomal recessive inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hypoglycemia, Increased serum lactate, Increased serum pyruvate, Lactic acidosis, Organic aciduria, Variable expressivity
nIN2	NBPF12	0.423358156	0.001263818			OMIM|608607
nIN2	NCOA2	0.556274811	0.001264576	Transcription regulatory protein	BrainSpLMD|10499;Eurexp|euxassay_010514|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V;BrainSpMouseDev|17745	OMIM|601993;COSMIC||AML, chondrosarcoma, rhabdomyosarcoma
nIN2	EXOC5	0.530989618	0.001280854	Transport/cargo protein	BrainSpLMD|10640;Eurexp|euxassay_006589|embryo	SFARI||Autism, No category;OMIM|604469
nIN2	TRIM24	1.017054924	0.001294715	Transcription regulatory protein	BrainSpLMD|8805;Eurexp|euxassay_009747|mantle layer, olfactory, ventricular layer;BrainSpMouseDev|21607	OMIM|603406;COSMIC||APL;HPO|8805|Autosomal dominant inheritance, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma
nIN2	OFD1	0.262478671	0.00129846	Unclassified	BrainSpLMD|8481;Eurexp|euxassay_001435|lung, nasal septum, oral epithelium, urethra	SFARI||Autism, 4 - Minimal evidence;OMIM|300170;HPO|8481|Abnormal cortical gyration, Abnormal electroretinogram, Abnormal heart morphology, Abnormality of color vision, Abnormality of retinal pigmentation, Abnormality of the cerebellum, Abnormality of the retinal vasculature, Abnormality of the rib cage, Abnormality of the testis, Abnormality of toe, Accessory oral frenulum, Agenesis of corpus callosum, Agenesis of permanent teeth, Alopecia, Alveolar ridge overgrowth, Anteverted nares, Arachnoid cyst, Ataxia, Atypical scarring of skin, Bifid tongue, Blindness, Brachydactyly, Broad alveolar ridges, Broad palm, Carious teeth, Cataract, Cerebellar vermis hypoplasia, Cleft palate, Clinodactyly, Clinodactyly of the 5th finger, Coarse facial features, Conductive hearing impairment, Cone-shaped epiphysis, Congenital hip dislocation, Congenital onset, Deep philtrum, Downslanted palpebral fissures, Enlarged cisterna magna, Epicanthus, Facial asymmetry, Facial capillary hemangioma, Feeding difficulties in infancy, Finger syndactyly, Foot polydactyly, Frontal bossing, Generalized hypotonia, Glaucoma, Global developmental delay, Gray matter heterotopias, Growth delay, Hamartoma of tongue, Hearing impairment, Hepatic cysts, Hepatic fibrosis, High palate, Hirsutism, Hydrocephalus, Hyperactive deep tendon reflexes, Hyperinsulinemia, Hypertelorism, Hypertension, Hypodontia, Hypogonadism, Hypoplasia of dental enamel, Hypoplasia of penis, Hypothalamic hamartoma, Increased number of teeth, Inguinal hernia, Intellectual disability, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Keratoconus, Lobulated tongue, Low-set ears, Macrocephaly, Median cleft lip, Microcephaly, Micropenis, Microretrognathia, Milia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Ovarian cyst, Photophobia, Pneumonia, Polycystic kidney dysplasia, Polydactyly, Porencephalic cyst, Postaxial polydactyly, Posteriorly rotated ears, Progressive night blindness, Proteinuria, Radial deviation of finger, Recurrent infections, Recurrent respiratory infections, Recurrent upper respiratory tract infections, Reduced bone mineral density, Rod-cone dystrophy, Scaphocephaly, Seizures, Sensorineural hearing impairment, Short finger, Short neck, Short nose, Short stature, Short toe, Single transverse palmar crease, Small nail, Sparse hair, Syndactyly, Talipes equinovarus, Tapered finger, Telecanthus, Thick vermilion border, Thickened nuchal skin fold, Thin upper lip vermilion, Tongue nodules, U-Shaped upper lip vermilion, Underdeveloped nasal alae, Wide intermamillary distance, Wide mouth, Wide nasal bridge, Wide nose, X-linked dominant inheritance, X-linked recessive inheritance
nIN2	CNOT2	0.570079924	0.001300524	Transcription regulatory protein	BrainSpLMD|4848	OMIM|604909
nIN2	KIF21A	0.441103701	0.00131475	Motor protein	BrainSpLMD|55605;Eurexp|euxassay_012905|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventricular layer	OMIM|608283;HPO|55605|Autosomal dominant inheritance, Bilateral ptosis, Compensatory chin elevation, Congenital fibrosis of extraocular muscles, Esotropia, Exotropia, Levator palpebrae superioris atrophy, Restrictive external ophthalmoplegia, Superior rectus atrophy
nIN2	OGT	0.398357148	0.001330499	Enzyme: Glucosaminyltransferase	BrainSpLMD|8473	SFARI||Autism, No category;OMIM|300255
nIN2	CSNK1E	0.343088667	0.00134042	Serine/threonine kinase	BrainSpLMD|1454;Eurexp|euxassay_018818|brain, cervical, cervico-thoracic, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|27118	OMIM|600863
nIN2	PCMTD1	0.847953329	0.001342428	Unclassified	BrainSpLMD|115294;Eurexp|euxassay_011211|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, incisor, midbrain, molar, neural retina, spinal cord, submandibular gland primordium, testis, thymus primordium, thyroid, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	
nIN2	ZNF562	0.689915206	0.00134573	Unclassified	BrainSpLMD|54811	
nIN2	YY1	0.495215768	0.001351852	Transcription factor	BrainSpLMD|7528	SFARI||Autism, No category;OMIM|600013
nIN2	TRMT61B	0.330789261	0.001366389	Enzyme: Methyltransferase	BrainSpLMD|55006	
nIN2	ZNF638	0.443527275	0.001388332	DNA binding protein	BrainSpLMD|27332	OMIM|614349
nIN2	ROCK1	0.919220196	0.001390048	Serine/threonine kinase	BrainSpLMD|6093	OMIM|601702
nIN2	TMEM98	0.250905404	0.00139758	Integral membrane protein	BrainSpLMD|26022	OMIM|615949;HPO|26022|Abnormality of the choroid, Autosomal dominant inheritance, Glaucoma, High-grade hypermetropia, Microphthalmia, Strabismus
nIN2	ZNF738	0.283516767	0.001420517	Transcription regulatory protein	BrainSpLMD|148203	
nIN2	NSUN6	0.341280303	0.001422534	Unclassified	BrainSpLMD|221078	OMIM|617199
nIN2	LINC01420	0.529684132	0.001428012			
nIN2	HCG18	0.534235075	0.001446954			
nIN2	RPL11	0.61314212	0.00145355	Ribosomal subunit	BrainSpLMD|6135	OMIM|604175;HPO|6135|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Atresia of the external auditory canal, Autosomal dominant inheritance, Choanal atresia, Cleft palate, Delayed puberty, Fatigue, Fetal distress, Hearing impairment, Increased mean corpuscular volume, Intrauterine growth retardation, Macrocytic anemia, Migraine, Neutropenia, Osteopenia, Osteoporosis, Pallor, Patent ductus arteriosus, Polyhydramnios, Recurrent otitis media, Scoliosis, Secundum atrial septal defect, Short thumb, Small hypothenar eminence, Sprengel anomaly, Triphalangeal thumb, Ventricular septal defect, Vitamin D deficiency
nIN2	PRDM2	0.28655185	0.001466904	Transcription regulatory protein	BrainSpLMD|7799	OMIM|601196;COSMIC||glioma, colon adenocarcinoma, gastric carcinoma, ovarian carcinoma, HNSCC
nIN2	ZNF91	0.393209279	0.001481053	Transcription regulatory protein	BrainSpLMD|7644	OMIM|603971
nIN2	SNHG5	0.704859494	0.001492588			OMIM|613263
nIN2	ORMDL1	0.80824646	0.001499689	Integral membrane protein	BrainSpLMD|94101	OMIM|610073
nIN2	VPS13B	0.875532724	0.001500952	Transport/cargo protein	BrainSpLMD|157680	SFARI||Autism, No category;OMIM|607817;HPO|157680|Abnormality of skin pigmentation, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Autosomal recessive inheritance, Cat cry, Cerebellar hypoplasia, Childhood-onset truncal obesity, Chorioretinal dystrophy, Clinodactyly of the 5th finger, Convex nasal ridge, Cubitus valgus, Decreased fetal movement, Delayed puberty, Downslanted palpebral fissures, Facial hypotonia, Failure to thrive in infancy, Feeding difficulties in infancy, Finger syndactyly, Generalized hypotonia, Genu valgum, Gingival overgrowth, Global developmental delay, Growth hormone deficiency, High, narrow palate, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Laryngomalacia, Leukopenia, Long eyelashes, Low anterior hairline, Lumbar hyperlordosis, Macrodontia, Macrodontia of permanent maxillary central incisor, Microcephaly, Micrognathia, Mitral valve prolapse, Motor delay, Muscular hypotonia, Myopia, Narrow palm, Neonatal hypotonia, Neurological speech impairment, Neutropenia, Obesity, Open mouth, Optic atrophy, Pes planus, Prominent nasal bridge, Reduced number of teeth, Reduced visual acuity, Sandal gap, Seizures, Short metacarpal, Short metatarsal, Short philtrum, Short stature, Single transverse palmar crease, Slender toe, Small for gestational age, Tapered finger, Thick corpus callosum, Thick eyebrow, Thick hair, Thoracic scoliosis, Visual impairment, Weak cry
nIN2	INTS10	0.962725654	0.00151882	Unclassified	BrainSpLMD|55174;Eurexp|euxassay_001760|mantle layer, marginal layer	OMIM|611353
nIN2	RPL7P1	0.333750477	0.001626233			
nIN2	AC016739.2	0.253016364	0.001639945			
nIN2	DHX29	0.481388609	0.001655714	RNA helicase	BrainSpLMD|54505	OMIM|612720
nIN2	DROSHA	0.610951639	0.001705701	Ribonuclease	BrainSpLMD|29102;Eurexp|euxassay_018939|incisor, lung, metanephros, molar, submandibular gland primordium, vibrissa	OMIM|608828;COSMIC||Wilms tumour, NSCLC, bladder carcinoma
nIN2	RPL35A	0.6128992	0.00173012	Ribosomal subunit	BrainSpLMD|6165;Eurexp|euxassay_000501|basisphenoid bone, glossopharyngeal IX, mantle layer, orbito-sphenoid, otic capsule, pancreas, sphenoid, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, ventricular layer, vestibular component	OMIM|180468;HPO|6165|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Erythroid hypoplasia, Fatigue, Global developmental delay, Hypertelorism, Hypospadias, Infantile onset, Leukopenia, Low-set ears, Macrocytic anemia, Migraine, Pallor, Reticulocytopenia, Short stature, Ventricular septal defect
nIN2	TACC2	1.373474315	0.001770485	Cell cycle control protein	BrainSpLMD|10579	OMIM|605302
nIN2	SCARNA22	0.65051798	0.00177934			
nIN2	PAK1	0.276911959	0.001780836	Serine/threonine kinase	BrainSpLMD|5058;Eurexp|euxassay_018852|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, incisor, mandible, maxilla, midbrain, molar, neural retina, spinal cord, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|18245	OMIM|602590
nIN2	ATP11B	0.492586217	0.00185231	ATPase	BrainSpLMD|23200	OMIM|605869
nIN2	ARL3	0.288848368	0.00187637	GTPase	BrainSpLMD|403	OMIM|604695
nIN2	UFSP2	0.623162808	0.001883159	Protease	BrainSpLMD|55325;Eurexp|euxassay_002185|orbito-sphenoid, turbinate	OMIM|611482;HPO|55325|Abnormal ossification involving the femoral head and neck, Abnormality of bone mineral density, Abnormality of the epiphysis of the femoral head, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Broad femoral neck, Childhood onset, Flat capital femoral epiphysis, Hip dysplasia, Irregular capital femoral epiphysis, Osteoarthritis, Shallow acetabular fossae, Wide proximal femoral metaphysis
nIN2	KIAA0355	0.84767897	0.001905005	Unclassified	BrainSpLMD|9710;Eurexp|euxassay_011009|lung, ovary	
nIN2	HIST1H2BD	1.340873215	0.001913544	DNA binding protein	BrainSpLMD|3017	OMIM|602799
nIN2	RNF24	0.625389066	0.001948892	Transcription factor	BrainSpLMD|11237	OMIM|612489
nIN2	VPS26A	0.688631611	0.001961527	Transport/cargo protein	BrainSpLMD|9559	OMIM|605506
nIN2	PPFIA1	0.425492038	0.001992513	Anchor protein	BrainSpLMD|8500	SFARI||Autism, No category;OMIM|611054
nIN2	ANKIB1	0.424241738	0.001992679	Unclassified		
nIN2	DICER1	0.381370416	0.002012425	Ribonuclease	BrainSpLMD|23405;Eurexp|euxassay_018948|dorsal root ganglion, glossopharyngeal IX, olfactory, submandibular gland primordium, trigeminal V, ventricular layer, vibrissa	OMIM|606241;COSMIC||sex cord-stromal tumour, TGCT, embryonal rhabdomyosarcoma, pleuropulmonary blastoma, pituitary blastoma, Wilms tumour, thyroid cancer, other tumour types, pleuropulmonary blastoma;HPO|23405|Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Basal cell carcinoma, Colorectal polyposis, Embryonal rhabdomyosarcoma, Euthyroid multinodular goiter, Familial predisposition, Medulloblastoma, Multinodular goiter, Ovarian neoplasm, Papillary thyroid carcinoma, Pleuropulmonary blastoma, Renal cell carcinoma, Rhabdomyosarcoma, Sertoli cell neoplasm, Testicular seminoma
nIN2	CLIP1	0.371921899	0.002044793	Structural protein	BrainSpLMD|6249	OMIM|179838;COSMIC||Spitzoid tumour
nIN2	SENP6	0.406566654	0.002102071	Ubiquitin proteasome system protein	BrainSpLMD|26054;Eurexp|euxassay_005645|embryo	OMIM|605003
nIN2	SCNM1	0.726579947	0.002102106	Unclassified	BrainSpLMD|79005	OMIM|608095
nIN2	COX6B1	0.339198916	0.00216471	Enzyme: Oxidoreductase	BrainSpLMD|1340	OMIM|124089;HPO|1340|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
nIN2	MIA3	0.294800471	0.002245394	Unclassified	Eurexp|euxassay_011320|olfactory, vomeronasal organ	OMIM|613455
nIN2	IPO9	0.320907617	0.002259631	Transport/cargo protein	BrainSpLMD|55705	
nIN2	MTA2	0.48615666	0.002290908	Regulatory/other subunit	BrainSpLMD|9219;BrainSpMouseDev|23693	OMIM|603947
nIN2	AGO1	0.91732868	0.00231441	Translation regulatory protein	BrainSpLMD|26523;Eurexp|euxassay_012863|facial VII, incisor, mantle layer, marginal layer, molar, neural retina, olfactory, trigeminal V, ventricular layer	OMIM|606228
nIN2	DCTN4	0.523900992	0.002555871	Unclassified	BrainSpLMD|51164	OMIM|614758;HPO|51164|Biliary cirrhosis, Decreased antibody level in blood, Exocrine pancreatic insufficiency, Immunodeficiency, Malabsorption, Pulmonary fibrosis, Recurrent respiratory infections
nIN2	UTP11L	0.292810402	0.002561608			
nIN2	ERBB2IP	0.68734787	0.002564531			
nIN2	RAB30	0.967285251	0.002581057	GTPase	BrainSpLMD|27314;Eurexp|euxassay_002971|basal plate, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|605693
nIN2	SAP30BP	0.492963448	0.002602892	Transcription regulatory protein	BrainSpLMD|29115;Eurexp|euxassay_003056|submandibular gland primordium	OMIM|610218
nIN2	CASC4	0.568558325	0.0026431	Unclassified	BrainSpLMD|113201	SFARI||Autism, 4 - Minimal evidence
nIN2	STMN1	0.291027633	0.002663205	Structural protein	BrainSpLMD|3925;Eurexp|euxassay_008627|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|151442
nIN2	OLA1	1.17404303	0.002673068	Unclassified	BrainSpLMD|29789	OMIM|611175
nIN2	CTDSP2	0.323832208	0.002745959	Enzyme: Phosphatase	BrainSpLMD|10106;Eurexp|euxassay_004324|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail	OMIM|608711
nIN2	CCNI	0.449113697	0.002759566	Cell cycle control protein	BrainSpLMD|10983	
nIN2	RPS4Y1	0.296189669	0.002780139	Ribosomal subunit	BrainSpLMD|6192;BrainSpMouseDev|19865	OMIM|470000
nIN2	TLK2	0.599324283	0.002849824	Cell cycle control protein	BrainSpLMD|11011	SFARI||Autism, 5 - Hypothesized but untested;OMIM|608439
nIN2	FAM177A1	0.629328638	0.00290439	Unclassified	BrainSpLMD|283635	
nIN2	SMARCA5	1.12188271	0.002952616	DNA binding protein	BrainSpLMD|8467;Eurexp|euxassay_019564|olfactory	OMIM|603375
nIN2	TMSB4XP4	0.480911686	0.003043978	-		
nIN2	MORC3	0.70502772	0.003046588	RNA binding protein	BrainSpLMD|23515	OMIM|610078
nIN2	CREBRF	0.574846696	0.003051185	DNA binding protein	BrainSpLMD|153222	OMIM|617109
nIN2	RPS13	0.442538509	0.003058202	Ribosomal subunit	BrainSpLMD|6207	OMIM|180476
nIN2	RPS28	0.382938003	0.003091768	Ribosomal subunit		OMIM|603685;HPO|6234|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Broad neck, Cleft palate, Congenital diaphragmatic hernia, Delayed puberty, Downslanted palpebral fissures, Epicanthus, Fatigue, Feeding difficulties, Global developmental delay, Infantile onset, Macrocytic anemia, Micrognathia, Microtia, Midface retrusion, Migraine, Mixed hearing impairment, Pallor, Posteriorly rotated ears, Respiratory distress, Short stature, Sparse and thin eyebrow
nIN2	FEM1B	0.678040091	0.00310643	Unclassified	BrainSpLMD|10116	OMIM|613539
nIN2	NOVA2	0.370314899	0.003133554	RNA binding protein	BrainSpLMD|4858;Eurexp|euxassay_013411|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lung, mantle layer, neural retina, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|601991
nIN2	AGL	0.543279632	0.003140272	Enzyme: Glucosidase	BrainSpLMD|178;Eurexp|euxassay_013482|dorsal root ganglion, facial VII, glossopharyngeal IX, skeletal muscle, trigeminal V, ventral grey horn, vertebral axis muscle system	OMIM|610860;HPO|178|Autosomal recessive inheritance, Broad nasal tip, Cardiomyopathy, Deeply set eye, Depressed nasal bridge, Distal amyotrophy, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Full cheeks, Hepatic fibrosis, Hepatomegaly, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Immunodeficiency, Intellectual disability, mild, Malar flattening, Midface retrusion, Muscle weakness, Myopathy, Short stature, Thin upper lip vermilion, Ventricular hypertrophy
nIN2	RPS20	0.709085026	0.003152709	Ribosomal subunit	BrainSpLMD|6224	OMIM|603682
nIN2	LCOR	0.33526873	0.003167133	Transcription regulatory protein	BrainSpLMD|84458;Eurexp|euxassay_014562|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|84411	OMIM|607698
nIN2	AC159540.1	1.264830474	0.003170658			
nIN2	SMARCC2	0.889018119	0.003184655	Transcription factor	BrainSpLMD|6601	SFARI||Autism, 2 - Strong candidate;OMIM|601734
nIN2	RP11.51O6.1	0.38471063	0.003227672			
nIN2	YIPF5	0.306509127	0.003355107	Unclassified	BrainSpLMD|81555;Eurexp|euxassay_002709|Meckel's cartilage, orbito-sphenoid	OMIM|611483
nIN2	ATP8A1	0.63582451	0.003376826	ATPase	BrainSpLMD|10396;Eurexp|euxassay_018768|anterior, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, neural retina, olfactory, rectum, right lung, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|11766	SFARI||Autism, 5 - Hypothesized but untested;OMIM|609542
nIN2	HAT1	0.320421828	0.003381047	Enzyme: Acyltransferase	BrainSpLMD|8520;Eurexp|euxassay_015562|brain, cerebral cortex, diencephalon, forebrain, hindbrain, liver, lung, medullary region, midbrain, optic II, optic stalk, telencephalon, testis, thymus primordium	OMIM|603053
nIN2	PELI1	0.374219777	0.003456883	Adapter molecule	BrainSpLMD|57162;Eurexp|euxassay_011663|cortex, forebrain, hindbrain, incisor, lung, marginal layer, midbrain, molar, neural retina, olfactory, spinal cord, submandibular gland primordium, thymus primordium, vibrissa, vomeronasal organ	OMIM|614797
nIN2	PLK2	0.5921476	0.003484073	Serine/threonine kinase	BrainSpLMD|10769;Eurexp|euxassay_015918|bladder, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, lung, mandible, mantle layer, maxilla, mesenchyme, olfactory, pancreas, sternum, ventral grey horn, vibrissa	OMIM|607023
nIN2	TMEM161B.AS1	0.403994552	0.003516936			
nIN2	KIDINS220	0.323352105	0.003574876	Integral membrane protein	Eurexp|euxassay_009418|brain, cervical, cervico-thoracic, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|615759;HPO|57498|Astigmatism, Autosomal dominant inheritance, Cerebral atrophy, Deeply set eye, Delayed myelination, Delayed speech and language development, Dilation of lateral ventricles, Esotropia, Full cheeks, Global developmental delay, Hypermetropia, Hyperreflexia, Infantile onset, Intellectual disability, Limb hypertonia, Muscular hypotonia of the trunk, Nystagmus, Prominent forehead, Reduced visual acuity, Spastic paraplegia
nIN2	UBR3	0.885480467	0.003705844	Unclassified	BrainSpLMD|130507;Eurexp|euxassay_007551|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613831
nIN2	LRRC37A4P	1.193073516	0.003739081			
nIN2	MAF	0.644819457	0.003802471	Transcription factor	BrainSpLMD|4094;Eurexp|euxassay_015869|choroid plexus, dorsal grey horn, facial VII, incisor, lens, mandible, mantle layer, maxilla, metanephros, molar, nasal septum, rib, trigeminal V, ventricular layer;BrainSpMouseDev|16902	OMIM|177075;COSMIC||MM;HPO|4094|Autosomal dominant inheritance, Brachycephaly, Broad eyebrow, Broad philtrum, Cataract, Cerulean cataract, Congenital cataract, Cortical pulverulent cataract, Depressed nasal bridge, Flat face, High forehead, Hypertelorism, Intellectual disability, Iris coloboma, Long philtrum, Low-set ears, Malar flattening, Microcornea, Midface retrusion, Myopia, Narrow mouth, Ptosis, Radioulnar synostosis, Seizures, Sensorineural hearing impairment, Short nose, Short stature, Smooth philtrum, Thin upper lip vermilion, Wide nasal bridge
nIN2	PPP1R10	0.457801297	0.003816176	Serine/threonine phosphatase	BrainSpLMD|5514	OMIM|603771
nIN2	RNF38	0.403549927	0.003829603	Ubiquitin proteasome system protein	BrainSpLMD|152006;Eurexp|euxassay_009782|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, 4 - Minimal evidence;OMIM|612488
nIN2	CAMTA1	0.49039998	0.003835533	Unclassified	BrainSpLMD|23261;BrainSpMouseDev|64242	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611501;COSMIC||epithelioid haemangioendothelioma;HPO|23261|Anteverted nares, Autosomal dominant inheritance, Bulbous nose, Cerebral cortical atrophy, Delayed speech and language development, Dysarthria, Dysmetria, Global developmental delay, Intellectual disability, mild, Long face, Long philtrum, Neonatal hypotonia, Pointed chin, Thick lower lip vermilion, Unsteady gait
nIN2	RPL26	0.427519287	0.003865294	Ribosomal subunit		OMIM|603704;HPO|6154|Abnormality of cells of the erythroid lineage, Abnormality of the eyelid, Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Absent thumb, Anemia, Arrhythmia, Atresia of the external auditory canal, Autosomal dominant inheritance, Bicuspid aortic valve, Cleft palate, Delayed puberty, Fatigue, Forearm reduction defects, Hypoplasia of the radius, Hypoplasia of the ulna, Macrocytic anemia, Migraine, Neutropenia, Pallor, Renal agenesis, Short stature, Stenosis of the external auditory canal
nIN2	PJA1	0.553054875	0.003920151	Ubiquitin proteasome system protein	BrainSpLMD|64219	OMIM|300420
nIN2	TTLL7	0.500571099	0.003984404	Enzyme: Ligase	BrainSpLMD|79739	
nIN2	TRAM1	0.730354863	0.004059717	Membrane transport protein	BrainSpLMD|23471	OMIM|605190
nIN2	PPP2R2A	0.442981877	0.004121809	Serine/threonine phosphatase	BrainSpLMD|5520	OMIM|604941
nIN2	BCL10	0.327039388	0.004173579	Adapter molecule	BrainSpLMD|8915	OMIM|603517;COSMIC||MALT;HPO|8915|Anemia, Autosomal recessive inheritance, B-cell lymphoma, Constipation, Decreased antibody level in blood, Encephalitis, Fatigue, Fever, Gastric lymphoma, Hyperhidrosis, Immunodeficiency, Infantile onset, Nausea and vomiting, Pulmonary infiltrates, Recurrent infections, Seizures, Weight loss
nIN2	HIST1H1E	0.802457009	0.00417944	DNA binding protein	BrainSpLMD|3008;Eurexp|euxassay_005923|embryo	OMIM|142220;HPO|3008|Accelerated skeletal maturation, Amblyopia, Astigmatism, Autosomal dominant inheritance, Camptodactyly, Full cheeks, Global developmental delay, Hypertonia, Intellectual disability, Kyphoscoliosis, Macrocephaly, Neonatal hypotonia, Nevus, Strabismus, Talipes equinovarus, Telecanthus
nIN2	AC240274.1	0.691132507	0.004193098			
nIN2	RPL15P3	0.396252116	0.004218096			
nIN2	ZNF704	0.748071789	0.004244678	Unclassified		
nIN2	POLB	0.270272197	0.004453079	DNA polymerase	BrainSpLMD|5423;Eurexp|euxassay_012784|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|174760
nIN2	C17orf85	0.915654361	0.004497187			
nIN2	GAPVD1	0.443200535	0.004545156	Unclassified	BrainSpLMD|26130;Eurexp|euxassay_000318|central nervous system, dorsal root ganglion, facial VII, glossopharyngeal IX, inner ear, metanephros, nervous system, nucleus pulposus, spinal cord, telencephalon, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611714
nIN2	RPL22	0.519684743	0.004636396	Ribosomal subunit	BrainSpLMD|6146	OMIM|180474;COSMIC||AML, CML
nIN2	LARP7	0.332359687	0.004677498	Unclassified	BrainSpLMD|51574;Eurexp|euxassay_006535|embryo	OMIM|612026;HPO|51574|Autosomal recessive inheritance, Decreased body weight, Deeply set eye, Depressed nasal bridge, Global developmental delay, Intellectual disability, severe, Low-set ears, Malar flattening, Microcephaly, Scoliosis, Severe short stature, Short philtrum, Thick vermilion border, Wide mouth, Wide nasal bridge, Wide nose
nIN2	IBTK	0.341072097	0.00476924	Unclassified	BrainSpLMD|25998	OMIM|606457
nIN2	RPS16	0.441816107	0.004846991	Ribosomal subunit	BrainSpLMD|6217	OMIM|603675
nIN2	UBE2Q2P6	0.516529969	0.004897105			
nIN2	KLHL24	0.405622481	0.00494547	Unclassified	BrainSpLMD|54800;Eurexp|euxassay_004876|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V, vagus X	OMIM|611295;HPO|54800|Autosomal dominant inheritance, Diffuse palmoplantar keratoderma, Dystrophic toenail, Sparse body hair
nIN2	TBC1D23	0.513500798	0.004989436	Unclassified	BrainSpLMD|55773	OMIM|617687
nIN2	TMED5	0.556802243	0.005190689	Unclassified	BrainSpLMD|50999	OMIM|616876
nIN2	RPL38	0.569542618	0.005219931	Ribosomal subunit	Eurexp|euxassay_002056|thymus primordium	OMIM|604182
nIN2	CAMSAP2	0.443155383	0.005243814	Unclassified	BrainSpLMD|23271;Eurexp|euxassay_013367|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, mandible, maxilla, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|613775
nIN2	CREBZF	0.433014209	0.005250683	Transcription factor	BrainSpLMD|58487;Eurexp|euxassay_019497|dorsal root ganglion, facial VII, glossopharyngeal IX, mesenchyme, neural retina, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|87640	OMIM|606444
nIN2	RP11.613M5.2	0.260029308	0.005288895			
nIN2	RPL7AP6	1.172470854	0.005427765			
nIN2	C5orf51	0.256439962	0.005512003	Unclassified	BrainSpLMD|285636;Eurexp|euxassay_002027|brain, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vagus X	
nIN2	CNOT8	0.631795662	0.005630913	Transcription regulatory protein	BrainSpLMD|9337;Eurexp|euxassay_011364|incisor	OMIM|603731
nIN2	SMG7	0.802806536	0.005662371	Unclassified	BrainSpLMD|9887	OMIM|610964
nIN2	UBN2	0.358931307	0.005757985	Unclassified		SFARI||Autism, 2 - Strong candidate;OMIM|613841
nIN2	POLR2J	0.700534768	0.005777872	RNA polymerase	BrainSpLMD|5439	OMIM|604150
nIN2	MAGI1	0.252374386	0.005835607	Cell junction protein	BrainSpLMD|9223;Eurexp|euxassay_016214|axial skeleton, clavicle, femur, fibula, humerus, pelvic girdle, rib, scapula, tibia	OMIM|602625
nIN2	ATP2C1	0.399006976	0.006116051	ATPase	BrainSpLMD|27032	OMIM|604384;HPO|27032|Acantholysis, Autosomal dominant inheritance, Erythema, Hyperkeratosis, Skin erosion, Skin vesicle
nIN2	RPL6	0.705940347	0.006168572	Ribosomal subunit	BrainSpLMD|6128	OMIM|603703
nIN2	RPS27A	0.445888693	0.00622233	Ubiquitin proteasome system protein		OMIM|191343
nIN2	GRSF1	0.488776252	0.006284855	RNA binding protein	BrainSpLMD|2926	OMIM|604851
nIN2	TRIM13	0.342852509	0.00635642	Unclassified	BrainSpLMD|10206	OMIM|605661
nIN2	H2AFY	0.587071362	0.006535011	DNA binding protein	BrainSpLMD|9555	OMIM|610054
nIN2	PNMA1	0.336808987	0.006561371	Unclassified	BrainSpLMD|9240	OMIM|604010
nIN2	ZBTB21	0.310408534	0.006707418	Transcription regulatory protein	BrainSpLMD|49854	OMIM|616485
nIN2	COPB2	0.771159164	0.006723132	Transport/cargo protein	BrainSpLMD|9276;Eurexp|euxassay_003332|cervical, cervico-thoracic, glomeruli, incisor, left, marginal layer, olfactory, right, submandibular gland primordium, testis, thoracic, thymus primordium, ventricular layer, vibrissa	OMIM|606990
nIN2	TTC28.AS1	0.609866199	0.006978893			
nIN2	MOB1B	1.510290498	0.006983414	Unclassified	BrainSpLMD|92597	OMIM|609282
nIN2	PAXBP1	0.411338405	0.007029565	Unclassified	BrainSpLMD|94104;Eurexp|euxassay_012943|brain, choroid plexus, dorsal root ganglion, lateral recess, spinal cord, trigeminal V, vagus X, ventricle	OMIM|617621
nIN2	ACAT1	0.518570956	0.007061197	Enzyme: Acyltransferase	BrainSpLMD|38	OMIM|607809;HPO|38|Autosomal recessive inheritance, Dehydration, Episodic ketoacidosis, Intellectual disability, Vomiting
nIN2	NBPF9	0.33402478	0.007124496	Unclassified		OMIM|613999
nIN2	U2SURP	0.25314326	0.007295116			
nIN2	ARRDC3	0.332455102	0.007500382	Unclassified	BrainSpLMD|57561	OMIM|612464
nIN2	FAM134A	0.370547723	0.007547041			
nIN2	MRPS31	0.330015103	0.0075582	Ribosomal subunit	BrainSpLMD|10240;Eurexp|euxassay_011534|left lung, liver, metanephros, midgut, right lung, stomach	OMIM|611992
nIN2	KAT7	0.818729685	0.007862112	Enzyme: Acyltransferase	BrainSpLMD|11143;BrainSpMouseDev|85129	OMIM|609880;COSMIC||CCRCC
nIN2	MAP4K5	0.506438271	0.007911792	Serine/threonine kinase	BrainSpLMD|11183	OMIM|604923
nIN2	HECTD4	0.297542967	0.00808097	Unclassified	BrainSpLMD|283450;Eurexp|euxassay_010071|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence
nIN2	RPS15A	0.281602674	0.008087146	Ribosomal subunit	BrainSpLMD|6210	OMIM|603674
nIN2	TCEAL7	0.58927376	0.008181865	Unclassified	BrainSpLMD|56849	OMIM|300771
nIN2	NACA3P	0.293271934	0.00840296			
nIN2	WDR26	0.995355449	0.008408949	Unclassified	BrainSpLMD|80232	SFARI||Autism, No category;OMIM|617424
nIN2	EP300	0.546849881	0.008465421	Transcription regulatory protein	BrainSpLMD|2033;BrainSpMouseDev|108486	SFARI||Autism, 4 - Minimal evidence;OMIM|602700;COSMIC||colorectal, breast, pancreatic, AML, ALL, DLBCL;HPO|2033|Abnormal number of teeth, Abnormality of refraction, Abnormality of the cervical spine, Abnormality of the cornea, Abnormality of the kidney, Abnormality of the pinna, Aganglionic megacolon, Agenesis of corpus callosum, Agoraphobia, Arrhythmia, Atrial septal defect, Autism, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Bifid uterus, Bimanual synkinesia, Broad hallux, Broad thumb, Cafe-au-lait spot, Capillary hemangiomas, Carious teeth, Cataract, Chorioretinal dystrophy, Clinodactyly of the 5th finger, Coloboma, Congenital onset, Constipation, Convex nasal ridge, Cryptorchidism, Deeply set eye, Delayed cranial suture closure, Delayed gross motor development, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Dental malocclusion, Deviated nasal septum, Dislocated radial head, Downslanted palpebral fissures, Duane anomaly, Duplication of phalanx of hallux, EEG abnormality, Epicanthus, Facial grimacing, Failure to thrive, Feeding difficulties in infancy, Flared iliac wings, Flexion contracture, Frontal bossing, Frontal upsweep of hair, Generalized hypotonia, Glaucoma, Global developmental delay, Hearing impairment, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, High axial triradius, High palate, Highly arched eyebrow, Hirsutism, Hyperactivity, Hyperreflexia, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Hypoplastic iliac wing, Hypospadias, Impulsivity, Intellectual disability, Intellectual disability, mild, Joint hypermobility, Joint laxity, Keloids, Large foramen magnum, Laryngomalacia, Long eyelashes, Low anterior hairline, Low hanging columella, Low posterior hairline, Low-set ears, Microcephaly, Micrognathia, Muscular hypotonia, Narrow mouth, Narrow palate, Nasolacrimal duct obstruction, Neoplasm of the stomach, Obstructive sleep apnea, Overbite, Papillary cystadenoma of the epididymis, Parietal foramina, Patellar dislocation, Patent ductus arteriosus, Pectus excavatum, Pes planus, Phonophobia, Plantar crease between first and second toes, Polydactyly, Polyhydramnios, Poor coordination, Posterior helix pit, Postnatal growth retardation, Premature thelarche, Prominent fingertip pads, Prominent nose, Proptosis, Ptosis, Radial deviation of thumb terminal phalanx, Recurrent upper respiratory tract infections, Renal cell carcinoma, Respiratory distress, Retrognathia, Scoliosis, Seizures, Self-mutilation, Shawl scrotum, Short attention span, Short stature, Single transverse palmar crease, Spina bifida occulta, Sporadic, Stereotypy, Strabismus, Syndactyly, Talon cusp, Tethered cord, Thick eyebrow, Transitional cell carcinoma of the bladder, Truncal obesity, Unsteady gait, Uterine leiomyosarcoma, Variable expressivity, Vascular ring, Ventricular septal defect, Wide anterior fontanel, Wide nasal bridge
nIN2	MSI2	0.426743004	0.008468586	RNA binding protein	BrainSpLMD|124540	OMIM|607897;COSMIC||CML
nIN2	CD46	0.254565413	0.008579412	Cell surface receptor	BrainSpLMD|4179	OMIM|120920
nIN2	DNMT3A	1.272967382	0.008589909	DNA methyltransferase	BrainSpLMD|1788;BrainSpMouseDev|13214	SFARI||Autism, 3 - Suggestive evidence;OMIM|602769;COSMIC||AML;HPO|1788|Autosomal dominant inheritance, Blepharophimosis, Intellectual disability, Macrocephaly, Round face, Tall stature
nIN2	LPAR2	0.430538601	0.008638609	G protein coupled receptor	BrainSpLMD|9170;Eurexp|euxassay_015522|alar plate, axial muscle, brain, cerebellum, cerebral cortex, dorsal root ganglion, facial VII, ganglion, glossopharyngeal IX, incisor, lateral wall, mantle layer, marginal layer, metanephros, midbrain, oral region, physiological umbilical hernia, rest of alar plate, roof plate, spinal cord, submandibular gland primordium, telencephalon, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|605110
nIN2	ATP5H	0.313680817	0.008789935			
nIN2	YTHDC2	0.316934093	0.008802874	Unclassified	BrainSpLMD|64848	SFARI||Autism, No category;OMIM|616530
nIN2	LBR	0.279307122	0.008839057	Integral membrane protein	BrainSpLMD|3930	OMIM|600024;HPO|3930|11 pairs of ribs, Abnormal foot bone ossification, Abnormal joint morphology, Abnormal lung lobation, Abnormal ossification involving the femoral head and neck, Abnormal pelvis bone ossification, Abnormal vertebral ossification, Abnormality of cholesterol metabolism, Abnormality of chromosome segregation, Abnormality of leukocytes, Abnormality of the calcaneus, Abnormality of the gastric mucosa, Abnormality of the scapula, Abnormality of the vertebral spinous processes, Absent or minimally ossified vertebral bodies, Absent toenail, Anterior rib punctate calcifications, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Barrel-shaped chest, Biliary cirrhosis, Bone marrow hypocellularity, Bowing of the long bones, Brachydactyly, Broad palm, Calcinosis, Calcinosis cutis, Calvarial skull defect, Cardiomegaly, Cystic hygroma, Decreased skull ossification, Depressed nasal bridge, Diaphyseal thickening, Disproportionate short-limb short stature, Dysphagia, Elevated alkaline phosphatase, Elevated hepatic transaminases, Epiphyseal stippling, Extramedullary hematopoiesis, Fatigue, Fever, Flared metaphysis, Gastroesophageal reflux, Gastrointestinal hemorrhage, Global developmental delay, Hepatic calcification, Hepatomegaly, Hepatosplenomegaly, High forehead, Horizontal sacrum, Hyperbilirubinemia, Hypertelorism, Hypoplasia of the maxilla, Hypoplastic fingernail, Hypoplastic vertebral bodies, Hyposegmentation of neutrophil nuclei, Intestinal malrotation, Irregular hyperpigmentation, Jaundice, Keratoconjunctivitis sicca, Laryngeal calcification, Lethal skeletal dysplasia, Lip telangiectasia, Long clavicles, Low-set ears, Lymphedema, Macrocephaly, Malar flattening, Mesomelia, Metaphyseal cupping, Micrognathia, Micromelia, Midface retrusion, Misalignment of teeth, Mucosal telangiectasiae, Multiple prenatal fractures, Myalgia, Narrow chest, Neonatal death, Nonimmune hydrops fetalis, Omphalocele, Palmar telangiectasia, Pancreatic islet-cell hyperplasia, Patchy variation in bone mineral density, Platyspondyly, Pleural effusion, Polydactyly, Polyhydramnios, Postaxial foot polydactyly, Postaxial hand polydactyly, Preeclampsia, Prominent forehead, Pruritus, Pulmonary hypoplasia, Punctate vertebral calcifications, Raynaud phenomenon, Rhizomelia, Sandal gap, Sclerodactyly, Scleroderma, Sclerosis of skull base, Severe hydrops fetalis, Severe short-limb dwarfism, Short diaphyses, Short phalanx of finger, Short ribs, Skin rash, Skin ulcer, Splenomegaly, Steatorrhea, Sternal punctate calcifications, Stillbirth, Supernumerary vertebral ossification centers, Telangiectasia of the skin, Tracheal calcification, Ulnar deviation of the hand, Xerostomia
nIN2	HIP1	0.441917832	0.009036932	Structural protein	BrainSpLMD|3092	OMIM|601767;COSMIC||CMML, NSCLC
nIN2	ABAT	0.955092537	0.009101156	Enzyme: Aminotransferase	BrainSpLMD|18;Eurexp|euxassay_001907|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, thymus primordium, trigeminal V, ventricular layer;BrainSpMouseDev|92603	SFARI||Autism, 4 - Minimal evidence;OMIM|137150;HPO|18|Agenesis of corpus callosum, Autosomal recessive inheritance, Cerebellar hypoplasia, Death in childhood, Downslanted palpebral fissures, Global developmental delay, High-pitched cry, Hyperreflexia, Lethargy, Leukodystrophy, Posterior fossa cyst, Retrognathia, Seizures, Severe muscular hypotonia, Tall stature
nIN2	ZFAS1	0.30809961	0.009115981			
nIN2	PALLD	0.447827085	0.009131122	Unclassified	BrainSpLMD|23022	OMIM|608092
nIN2	CHD6	0.439861286	0.009196518	DNA binding protein	BrainSpLMD|84181	OMIM|616114
nIN2	ZNF124	0.417723629	0.009332115	DNA binding protein	BrainSpLMD|7678	OMIM|194631
nIN2	ZEB2	0.558816767	0.00939491	Transcription regulatory protein	BrainSpLMD|9839;Eurexp|euxassay_005774|bladder, dorsal grey horn, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, lung, mantle layer, metanephros, midgut, nasal septum, penis, pharyngo-tympanic tube, stomach;BrainSpMouseDev|23887	OMIM|605802;HPO|9839|Abdominal distention, Abnormality of metabolism/homeostasis, Abnormality of the abdominal wall, Abnormality of the rib cage, Absent speech, Atrial septal defect, Autosomal dominant inheritance, Broad eyebrow, Delayed eruption of teeth, Drooling, Generalized hypotonia, Happy demeanor, Hypoplasia of the corpus callosum, Intellectual disability, moderate, Motor delay, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pulmonary artery sling, Pulmonary artery stenosis, Pulmonic stenosis, Supernumerary nipple, Ventricular septal defect, Vomiting, Widely spaced teeth
nIN2	CAPRIN2	0.525530196	0.009427668	Unclassified	BrainSpLMD|65981	OMIM|610375
nIN2	CNOT1	0.464190155	0.009440702	Transcription regulatory protein	BrainSpLMD|23019	OMIM|604917
nIN2	RPL18A	0.32932295	0.009548623	RNA binding protein		OMIM|604178
nIN2	PTMAP5	0.342452294	0.009659477			
nIN2	SRSF3	0.352139323	0.009677823	RNA binding protein	BrainSpLMD|6428	OMIM|603364;COSMIC||follicular lymphoma
nIN2	AC016708.2	0.737943163	0.009709242			
nIN2	YAF2	0.615079098	0.009875201	Transcription regulatory protein	BrainSpLMD|10138;Eurexp|euxassay_008132|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|607534
nIN2	NUP153	0.685463282	0.009973604	Transport/cargo protein	BrainSpLMD|9972	OMIM|603948
nIN3	LHX6	2.258614243	0	Transcription factor	BrainSpLMD|26468;BrainSpMouseDev|16645	OMIM|608215
nIN3	PLS3	1.601420714	0	Structural protein	BrainSpLMD|5358	OMIM|300131;HPO|5358|Osteopenia, Osteoporosis, Vertebral compression fractures, X-linked dominant inheritance
nIN3	DLX2	1.394040715	0	Transcription factor	BrainSpLMD|1746;BrainSpMouseDev|13171	SFARI||Autism, 4 - Minimal evidence;OMIM|126255
nIN3	DLX6.AS1	1.134074414	0			
nIN3	NRXN3	1.056800194	0	Adhesion molecule	BrainSpLMD|9369;Eurexp|euxassay_009777|bladder, collecting ducts, inner ear, mantle layer, marginal layer, neural retina, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|600567
nIN3	SOX4	0.804042023	0	Transcription factor	BrainSpLMD|6659;Eurexp|euxassay_019583|cervical, cervico-thoracic, dorsal grey horn, dorsal root ganglion, incisor, lung, mantle layer, mesenchyme, metanephros, molar, neural retina, oesophagus, phalanx, submandibular gland primordium, testis, trachea, valve, vibrissa;BrainSpMouseDev|20439	OMIM|184430
nIN3	SOX11	0.752416577	0	Transcription factor	BrainSpLMD|6664;BrainSpMouseDev|20428	OMIM|600898;HPO|6664|Abnormal facial shape, Abnormality of cardiovascular system morphology, Abnormality of the columella, Abnormality of the dentition, Abnormality of the nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Autosomal dominant inheritance, Clinodactyly, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Everted lower lip vermilion, Feeding difficulties in infancy, Full cheeks, Generalized hirsutism, Global developmental delay, Hearing impairment, Highly arched eyebrow, Hypertrichosis, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Long nose, Low-set ears, Microcephaly, Midface retrusion, Muscular hypotonia, Nystagmus, Open mouth, Posteriorly rotated ears, Recurrent respiratory infections, Scoliosis, Seizures, Short chin, Short distal phalanx of finger, Short nose, Short palpebral fissure, Short philtrum, Short stature, Slow-growing hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick vermilion border, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Wide mouth, Wide nasal bridge
nIN3	MAP1B	0.286995738	0	Cytoskeletal associated protein	BrainSpLMD|4131;Eurexp|euxassay_009367|brain, facial VII, glossopharyngeal IX, olfactory, peripheral nervous system, retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|157129
nIN3	PFN2	1.238513061	1.11E-16	Structural protein	BrainSpLMD|5217;Eurexp|euxassay_002518|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|176590
nIN3	ERBB4	1.019243912	1.11E-16	Receptor tyrosine kinase	BrainSpLMD|2066;Eurexp|euxassay_008088|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|13647	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600543;COSMIC||melanoma, gastric, NSCLC, Amyotrophic lateral sclerosis 19;HPO|2066|Adult onset, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Loss of ability to walk, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Xerostomia
nIN3	TMEM123	1.409379367	8.88E-16	Cell surface receptor	BrainSpLMD|114908	OMIM|606356
nIN3	GAD1	1.517135639	1.22E-15	Enzyme: Decarboxylase	BrainSpLMD|2571;Eurexp|euxassay_005634|cerebral cortex, corpus striatum, hindbrain, incisor, mantle layer, marginal layer, molar, olfactory lobe, oral region, spinal cord, telencephalon;BrainSpMouseDev|14191	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605363;HPO|2571|Autosomal recessive inheritance, Babinski sign, Cerebral palsy, Flexion contracture, Global developmental delay, Heterogeneous, Hyperreflexia, Infantile onset, Intellectual disability, Microcephaly, Scoliosis, Seizures, Spastic diplegia, Spastic tetraplegia
nIN3	DLX6	1.780935245	8.66E-15	Transcription factor	BrainSpLMD|1750;BrainSpMouseDev|13175	SFARI||Autism, 4 - Minimal evidence;OMIM|600030;HPO|1750|Finger syndactyly, Oligodactyly
nIN3	DCX	0.804983263	1.98E-14	Cytoskeletal associated protein	BrainSpLMD|1641;Eurexp|euxassay_018537|brain, capsule, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|12973	SFARI||Autism, No category;OMIM|300121;HPO|1641|Agenesis of corpus callosum, Ataxia, Death in infancy, Dysarthria, Feeding difficulties, Hypertonia, Incomplete penetrance, Infantile onset, Intellectual disability, Intellectual disability, severe, Lissencephaly, Micropenis, Motor delay, Muscular hypotonia, Muscular hypotonia of the trunk, Nystagmus, Pachygyria, Postnatal growth retardation, Seizures, X-linked inheritance
nIN3	SOX6	1.655432461	4.39E-14	Transcription factor	BrainSpLMD|55553;BrainSpMouseDev|20441	OMIM|607257
nIN3	STMN2	0.561518925	6.55E-14	Cytoskeletal associated protein	BrainSpLMD|11075;Eurexp|euxassay_009268|cervical, cervico-thoracic, dorsal root ganglion, facial VII, footplate, forebrain, glossopharyngeal IX, handplate, hindbrain, hindgut, incisor, lip, midbrain, midgut, neural retina, oesophagus, olfactory, spinal cord, stomach, thoracic, thymus primordium, tongue, trigeminal V, vestibulocochlear VIII, vibrissa, visceral, vomeronasal organ	OMIM|600621
nIN3	SOX2.OT	0.82043693	3.75E-13			
nIN3	PDZRN4	1.495177287	4.46E-13	Unclassified	BrainSpLMD|29951;Eurexp|euxassay_013149|axial skeleton, basioccipital bone, femur, fibula, humerus, mantle layer, phalanx, rib, scapula, tibia	OMIM|609730
nIN3	SP9	1.823496665	1.40E-12		BrainSpLMD|100131390;BrainSpMouseDev|120188	
nIN3	PLXNA4	1.596344666	4.60E-12	Unclassified	BrainSpLMD|91584;Eurexp|euxassay_009720|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X;BrainSpMouseDev|89119	SFARI||Autism, 3 - Suggestive evidence;OMIM|604280
nIN3	MEG3	1.120971447	8.77E-12			OMIM|605636
nIN3	RP11.384F7.2	1.646711016	3.65E-11			
nIN3	HSPA1A	0.955945628	3.67E-11	Chaperone	BrainSpLMD|3303;Eurexp|euxassay_005687|adrenal gland, testis, vibrissa	OMIM|140550
nIN3	DCLK2	1.14959909	4.13E-11	Serine/threonine kinase	BrainSpLMD|166614;Eurexp|euxassay_009796|associated mesenchyme, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nasal cavity, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613166
nIN3	RND3	1.225536798	2.45E-10	G protein	BrainSpLMD|390	OMIM|602924
nIN3	NKX2.1	1.796943253	2.89E-10			
nIN3	ZNF536	1.300074706	3.39E-10	DNA binding protein	BrainSpLMD|9745;Eurexp|euxassay_015751|adrenal gland, bladder, brain, cochlea, dorsal root ganglion, forelimb, glossopharyngeal IX, hindgut, hindlimb, limb, loop, lung, mandible, medullary stroma, midgut, molar, oesophagus, olfactory, penis, pituitary, rectum, retina, spinal cord, stomach, thyroid, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	
nIN3	RP11.588P7.1	1.6881675	4.64E-10			
nIN3	STXBP5L	1.97391509	4.73E-10	Transport/cargo protein	Eurexp|euxassay_011926|mantle layer	OMIM|609381
nIN3	DLX1	1.01900944	4.96E-10	Transcription factor	BrainSpLMD|1745;Eurexp|euxassay_008426|cochlea, epithelium, footplate, handplate, incisor, inner ear, mantle layer, midgut, naso-lacrimal duct, neural retina, oesophagus, paraxial mesenchyme, retina, skeletal muscle, skeleton, stomach, utricle, vibrissa;BrainSpMouseDev|13169	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600029
nIN3	BZW1P2	1.988405396	4.97E-10			
nIN3	HSP90AB1	0.589205173	8.48E-10	Chaperone	BrainSpLMD|3326	OMIM|140572;COSMIC||NHL
nIN3	TMEM2	1.335781241	9.69E-10	Integral membrane protein	BrainSpLMD|23670	OMIM|605835
nIN3	HSP90AA1	0.640995583	1.36E-09	Chaperone	BrainSpLMD|3320;Eurexp|euxassay_010007|cervical, cervico-thoracic, choroid plexus, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, mandible, mantle layer, midgut, molar, neural retina, olfactory, pancreas, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, vagus X, ventral grey horn, ventricular layer, vomeronasal organ	OMIM|140571;COSMIC||NHL
nIN3	TRAPPC2	0.412058722	3.47E-09	Transcription regulatory protein	BrainSpLMD|6399;Eurexp|euxassay_005400|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|300202;HPO|6399|Abnormality of epiphysis morphology, Arthralgia, Barrel-shaped chest, Coxa vara, Disproportionate short stature, Disproportionate short-trunk short stature, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Irregular epiphyses, Kyphosis, Limitation of joint mobility, Lumbar hyperlordosis, Opacification of the corneal stroma, Platyspondyly, Scoliosis, Shield chest, Short femoral neck, Short neck, Short thorax, Spondyloepiphyseal dysplasia, Thoracic kyphosis, Upper limb undergrowth, X-linked recessive inheritance
nIN3	HNRNPH1	0.400789386	3.53E-09	Ribonucleoprotein	BrainSpLMD|3187	OMIM|601035
nIN3	ST8SIA5	1.210648655	3.87E-09	Enzyme: Sialyltransferase	BrainSpLMD|29906	OMIM|607162
nIN3	DACH2	1.194891224	4.24E-09	Transcription factor;Cell cycle control protein	BrainSpLMD|117154;Eurexp|euxassay_009795|basal columns, bladder, ear, mantle layer, marginal layer, medullary stroma, renal/urinary system, tegmentum, urachus;BrainSpMouseDev|60489	OMIM|300608
nIN3	FGD3	1.824457922	5.06E-09	Guanine nucleotide exchange factor	BrainSpLMD|89846;Eurexp|euxassay_010184|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vestibulocochlear VIII	OMIM|617554
nIN3	SERINC5	0.328440164	6.64E-09	Unclassified	BrainSpLMD|256987;Eurexp|euxassay_011506|anterior, clavicle, floor plate, floorplate, incisor, mantle layer, marginal layer, molar, phalanx, thyroid, ventricular layer, vibrissa	OMIM|614551
nIN3	PDZRN3	1.22492098	7.97E-09	Unclassified	BrainSpLMD|23024;Eurexp|euxassay_000356|mantle layer	OMIM|609729
nIN3	TTTY15	1.393500515	9.73E-09			
nIN3	RBP1	0.973499104	1.28E-08	Transport/cargo protein	BrainSpLMD|5947;Eurexp|euxassay_003315|brain, corpus striatum, forelimb, hindbrain, hindlimb, mantle layer, midgut, olfactory lobe, telencephalon, turbinate bones	OMIM|180260
nIN3	RP11.175B9.3	1.187516632	1.48E-08			
nIN3	MT.RNR1	0.402471629	1.52E-08			
nIN3	BCL11A	0.30294002	1.72E-08	DNA binding protein	BrainSpLMD|53335;Eurexp|euxassay_007892|dorsal grey horn, incisor, naris, olfactory, pharyngo-tympanic tube, submandibular gland primordium, vibrissa;BrainSpMouseDev|13802	SFARI||Autism, 2 - Strong candidate;OMIM|606557;COSMIC||B-CLL;HPO|53335|Autosomal dominant inheritance, Congenital onset, Cupped ear, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, Global developmental delay, Intellectual disability, Joint hypermobility, Low-set ears, Microcephaly, Midface retrusion, Overfolded helix, Retrognathia, Strabismus, Thin upper lip vermilion
nIN3	HSPH1	0.787714677	1.77E-08	Heat shock protein;Chaperone	BrainSpLMD|10808	OMIM|610703
nIN3	TET2	1.420060498	2.43E-08	Unclassified	BrainSpLMD|54790	SFARI||Autism, No category;OMIM|612839;COSMIC||MDS;HPO|54790|Abdominal pain, Abnormal platelet morphology, Acute leukemia, Amaurosis fugax, Angina pectoris, Arterial thrombosis, Arthralgia, Bruising susceptibility, Chest pain, Epistaxis, Fatigue, Gingival bleeding, Headache, Hepatomegaly, Increased megakaryocyte count, Myelodysplasia, Myelofibrosis, Myocardial infarction, Paresthesia, Prolonged bleeding time, Respiratory insufficiency, Somatic mutation, Splenomegaly, Tinnitus, Transient ischemic attack, Venous thrombosis, Vertigo, Weight loss
nIN3	EPHA4	0.973684028	2.44E-08	Receptor tyrosine kinase	BrainSpLMD|2043;BrainSpMouseDev|13616	OMIM|602188;HPO|2043|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
nIN3	TIAM1	1.326777691	2.73E-08	Guanine nucleotide exchange factor	BrainSpLMD|7074;Eurexp|euxassay_006321|epidermis, incisor, molar, naris, olfactory, submandibular gland primordium, thymus primordium, vibrissa;BrainSpMouseDev|21603	OMIM|600687
nIN3	CCDC88A	0.859804478	3.28E-08	Cytoskeletal protein	BrainSpLMD|55704;Eurexp|euxassay_012890|mantle layer, ventral grey horn	OMIM|609736;HPO|55704|Abnormality of the hand, Autosomal recessive inheritance, Cerebellar atrophy, Developmental stagnation, Edema, Epicanthus, Feeding difficulties in infancy, Full cheeks, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile encephalopathy, Intellectual disability, profound, Myoclonus, Narrow forehead, Neuronal loss in central nervous system, Open mouth, Optic atrophy, Pachygyria, Peripheral dysmyelination, Polymicrogyria, Progressive microcephaly, Retrognathia, Seizures, Severe muscular hypotonia, Short nose, Tented upper lip vermilion, Undetectable visual evoked potentials
nIN3	RP11.588P7.2	1.316783487	4.23E-08			
nIN3	RUNX1T1	0.578612263	7.67E-08	Transcription regulatory protein	BrainSpLMD|862;Eurexp|euxassay_016597|dorsal grey horn, mantle layer;BrainSpMouseDev|12180	OMIM|133435;COSMIC||AML
nIN3	HSPA1B	1.07833243	1.11E-07	Chaperone	BrainSpLMD|3304	OMIM|603012
nIN3	DLX5	0.536729366	1.68E-07	Transcription regulatory protein	BrainSpLMD|1749;BrainSpMouseDev|13174	OMIM|600028;HPO|1749|Autosomal recessive inheritance, Finger syndactyly, Oligodactyly, Sensorineural hearing impairment, Split foot, Split hand
nIN3	CHD7	1.042807955	2.46E-07	DNA binding protein	Eurexp|euxassay_010758|marginal layer, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|608892;HPO|55636|Abnormality of body height, Abnormality of female internal genitalia, Abnormality of lymphocytes, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Alopecia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bifid scrotum, Breast hypoplasia, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Desquamation of skin soon after birth, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysphagia, Edema, Eosinophilia, Erectile abnormalities, Erythroderma, Esophageal atresia, Eunuchoid habitus, External ear malformation, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Female hypogonadism, Fever, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Hepatomegaly, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphopenia, Malar flattening, Male hypogonadism, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Non-obstructive azoospermia, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Pneumonia, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Secondary amenorrhea, Sensorineural hearing impairment, Severe combined immunodeficiency, Sparse body hair, Splenomegaly, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Thickened skin, Tracheoesophageal fistula, Umbilical hernia, Ventricular septal defect, Wide intermamillary distance
nIN3	DNAJB1	1.62014733	2.59E-07	Heat shock protein	BrainSpLMD|3337	OMIM|604572;COSMIC||fibrolamellar hepatocellular carcinoma
nIN3	GAD2	0.475660521	4.30E-07	Enzyme: Decarboxylase	BrainSpLMD|2572;Eurexp|euxassay_001769|dorsal grey horn, lateral ventricle, mantle layer;BrainSpMouseDev|14193	OMIM|138275
nIN3	RAP2B	1.068564083	4.32E-07	GTPase	BrainSpLMD|5912;Eurexp|euxassay_002574|vibrissa	OMIM|179541
nIN3	CACNA1E	0.346640149	4.60E-07	Voltage gated channel	BrainSpLMD|777;Eurexp|euxassay_006436|dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|601013
nIN3	SEPT7P6	1.973548322	4.92E-07			
nIN3	ARX	1.095737548	6.06E-07	Transcription factor	BrainSpLMD|170302;Eurexp|euxassay_018148|floor plate, floorplate, mantle layer, mesenchyme, ovary, pancreas, paramesonephric duct, skeletal muscle, tarsus, ventricle, ventricular layer;BrainSpMouseDev|11665	SFARI||Autism, No category;OMIM|300382;HPO|170302|Abnormal hair pattern, Abnormality of skin morphology, Abnormality of the hip bone, Agenesis of corpus callosum, Ambiguous genitalia, Broad alveolar ridges, Choreoathetosis, Coarse facial features, Cryptorchidism, Death in infancy, Decreased testicular size, Delayed speech and language development, Developmental regression, Diarrhea, Duane anomaly, Dysarthria, Dysphagia, Dyspnea, Dystonia, EEG abnormality, Epileptic encephalopathy, Feeding difficulties in infancy, Flexion contracture, Focal dystonia, Generalized hirsutism, Generalized hypotonia, Generalized myoclonic seizures, Gliosis, Global developmental delay, Hemiplegia, High forehead, High palate, Hirsutism, Hyperconvex nail, Hyperreflexia, Hypohidrosis, Hypoplasia of penis, Hypospadias, Hypsarrhythmia, Infantile spasms, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Large eyes, Limb dystonia, Limb joint contracture, Lissencephaly, Long philtrum, Long upper lip, Low anterior hairline, Low-set ears, Lower limb spasticity, Malabsorption, Microcephaly, Micrognathia, Micropenis, Muscle stiffness, Muscular hypotonia, Muscular hypotonia of the trunk, Myoclonus, Neonatal hypotonia, Nystagmus, Optic atrophy, Overlapping toe, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Prominent supraorbital ridges, Protruding ear, Renal dysplasia, Rigidity, Scoliosis, Seizures, Severe global developmental delay, Short stature, Spastic tetraplegia, Spasticity, Specific learning disability, Status epilepticus, Strabismus, Synophrys, Tapered finger, Tetraplegia, Thin upper lip vermilion, Triangular face, Ventriculomegaly, Visual impairment, Wide anterior fontanel, Wide nasal bridge, X-linked inheritance, X-linked recessive inheritance
nIN3	ACTBP2	0.362386241	8.64E-07			
nIN3	ADAMTS5	1.443716914	9.07E-07	Metallo protease	BrainSpLMD|11096	OMIM|605007
nIN3	KIAA0922	1.067618166	1.02E-06			
nIN3	RP11.768G7.2	2.420007733	1.29E-06			
nIN3	MAF	0.843410746	1.37E-06	Transcription factor	BrainSpLMD|4094;Eurexp|euxassay_015869|choroid plexus, dorsal grey horn, facial VII, incisor, lens, mandible, mantle layer, maxilla, metanephros, molar, nasal septum, rib, trigeminal V, ventricular layer;BrainSpMouseDev|16902	OMIM|177075;COSMIC||MM;HPO|4094|Autosomal dominant inheritance, Brachycephaly, Broad eyebrow, Broad philtrum, Cataract, Cerulean cataract, Congenital cataract, Cortical pulverulent cataract, Depressed nasal bridge, Flat face, High forehead, Hypertelorism, Intellectual disability, Iris coloboma, Long philtrum, Low-set ears, Malar flattening, Microcornea, Midface retrusion, Myopia, Narrow mouth, Ptosis, Radioulnar synostosis, Seizures, Sensorineural hearing impairment, Short nose, Short stature, Smooth philtrum, Thin upper lip vermilion, Wide nasal bridge
nIN3	ACTB	0.393483027	1.89E-06	Cytoskeletal protein	BrainSpLMD|60;BrainSpMouseDev|11250	OMIM|102630;HPO|60|Abnormality of metabolism/homeostasis, Achalasia, Agenesis of corpus callosum, Anteverted nares, Aortic valve stenosis, Aphasia, Autosomal dominant inheritance, Autosomal recessive inheritance, Bicuspid aortic valve, Blindness, Cataract, Cerebral cortical hemiatrophy, Chorioretinal coloboma, Cleft palate, Cleft upper lip, Coarse facial features, Cryptorchidism, Death in early adulthood, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Dysphagia, Dysphasia, Echolalia, Epicanthus, Euryblepharon, Externally rotated hips, Failure to thrive, Feeding difficulties, Full cheeks, Generalized dystonia, Generalized hypotonia, Global developmental delay, Growth delay, Heterochromia iridis, High forehead, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplastic scapulae, Immunodeficiency, Intellectual disability, Intellectual disability, mild, Iris coloboma, Joint stiffness, Kyphoscoliosis, Kyphosis, Large fontanelles, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Macroglossia, Macrogyria, Mental deterioration, Microcephaly, Micrognathia, Micromelia, Micropenis, Mild global developmental delay, Mutism, Oral cleft, Osteochondrosis, Overfolded helix, Pachygyria, Patent ductus arteriosus, Pointed chin, Polymicrogyria, Postnatal growth retardation, Prominent epicanthal folds, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Scoliosis, Seizures, Sensorineural hearing impairment, Short columella, Short neck, Short nose, Short stature, Skeletal dysplasia, Small for gestational age, Specific learning disability, Subcortical cerebral atrophy, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Trigonocephaly, Wide mouth, Wide nasal bridge, Wide nose
nIN3	FAM65B	1.258661602	1.96E-06			
nIN3	BCL11B	0.722113416	2.67E-06	Transcription regulatory protein;DNA binding protein	BrainSpLMD|64919;BrainSpMouseDev|37240	OMIM|606558;COSMIC||T-ALL;HPO|64919|Absent speech, Autosomal dominant inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hirsutism, Hypertelorism, Inflammatory abnormality of the skin, Intellectual disability, Micrognathia, Natal tooth, Pulmonary artery stenosis, Seizures, Severe combined immunodeficiency, Short palpebral fissure, Spastic tetraplegia, Umbilical hernia, Wormian bones
nIN3	SYNE2	0.262508714	3.02E-06	Cytoskeletal protein	BrainSpLMD|23224;Eurexp|euxassay_010927|cochlea, metanephros, pericardial cavity, peritoneal cavity, renal/urinary system, utricle, ventricular layer	OMIM|608442;HPO|23224|Arrhythmia, Autosomal dominant inheritance, Cardiomyopathy, Childhood onset, Elevated serum creatine phosphokinase, Muscular dystrophy, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Respiratory insufficiency
nIN3	ZSWIM5	1.47575099	4.00E-06	Unclassified		SFARI||Autism, 6 - Evidence does not support role
nIN3	GRIA4	1.684785055	4.01E-06	Extracellular ligand gated channel	BrainSpLMD|2893;Eurexp|euxassay_006297|bladder, brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, ductus deferens, facial VII, incisor, loop, medulla, metanephros, molar, neural retina, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|14578	OMIM|138246
nIN3	PDE4DIP	0.797349764	4.13E-06	Transport/cargo protein	BrainSpLMD|9659;Eurexp|euxassay_015920|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|608117;COSMIC||MPN
nIN3	TUSC7	1.512831839	6.72E-06			OMIM|616057
nIN3	SLAIN1	0.989841154	7.53E-06	Unclassified	BrainSpLMD|122060	OMIM|610491
nIN3	RP11.110G21.2	0.857731521	7.72E-06			
nIN3	CHORDC1	1.143916517	8.37E-06	Unclassified	BrainSpLMD|26973;Eurexp|euxassay_005070|brain, olfactory, trigeminal V, vomeronasal organ	OMIM|604353
nIN3	FBXW7	1.297874645	1.07E-05	Ubiquitin proteasome system protein	BrainSpLMD|55294;BrainSpMouseDev|30242	OMIM|606278;COSMIC||colorectal, endometrial, T-ALL
nIN3	SOX1	1.254437113	1.23E-05	Transcription factor	BrainSpLMD|6656;Eurexp|euxassay_019565|ventral grey horn, ventricular layer	OMIM|602148
nIN3	SKIDA1	1.384089831	1.29E-05	Unclassified	BrainSpLMD|387640;Eurexp|euxassay_003843|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	
nIN3	HSP90AA6P	0.320253344	1.38E-05			
nIN3	RP4.635E18.8	0.672311296	1.41E-05			
nIN3	SETX	0.511716294	1.85E-05	DNA helicase	BrainSpLMD|23064	OMIM|608465;HPO|23064|Abnormal lower motor neuron morphology, Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Amyotrophic lateral sclerosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Axonal degeneration, Babinski sign, Decreased motor nerve conduction velocity, Degeneration of anterior horn cells, Difficulty walking, Diffuse axonal swelling, Distal muscle weakness, Elevated serum creatine phosphokinase, Gaze-evoked nystagmus, Hyperreflexia, Impaired distal vibration sensation, Increased antibody level in blood, Limb ataxia, Pallor of dorsal columns of the spinal cord, Pes cavus, Polyneuropathy, Pontocerebellar atrophy, Progressive, Progressive gait ataxia, Saccadic smooth pursuit, Slow progression, Variable expressivity
nIN3	MAPK10	1.040432267	1.85E-05	Serine/threonine kinase	BrainSpLMD|5602;Eurexp|euxassay_009977|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|26162	OMIM|602897;HPO|5602|Abnormality of brainstem morphology, Aggressive behavior, Atonic seizures, Atypical absence seizures, Autistic behavior, EEG with focal sharp slow waves, Encephalopathy, Falls, Generalized tonic seizures, Generalized tonic-clonic seizures, Hyperactivity, Intellectual disability, Mental deterioration, Myoclonus, Personality disorder
nIN3	MFN1	0.304747428	2.02E-05	GTPase	BrainSpLMD|55669	OMIM|608506
nIN3	MTRNR2L1	0.443221009	2.15E-05			OMIM|616985
nIN3	FNDC5	1.063690037	2.33E-05	Adhesion molecule	BrainSpLMD|252995;Eurexp|euxassay_011781|skeletal muscle	OMIM|611906
nIN3	SCP2	0.316995227	2.34E-05	Membrane transport protein	BrainSpLMD|6342	SFARI||Autism, 4 - Minimal evidence;OMIM|184755;HPO|6342|Abnormal motor neuron morphology, Abnormality of saccadic eye movements, Abnormality of thalamus morphology, Autosomal recessive inheritance, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Hyposmia, Intention tremor, Leukoencephalopathy, Peripheral neuropathy, Torticollis
nIN3	SRRM4	0.9766987	2.44E-05	Unclassified	BrainSpLMD|84530	SFARI||Autism, 5 - Hypothesized but untested;OMIM|613103
nIN3	RP11.778D9.4	1.572513472	3.14E-05			
nIN3	TRIM36.IT1	0.926010402	3.19E-05			
nIN3	SACS	1.243877806	3.29E-05	Unclassified	BrainSpLMD|26278;Eurexp|euxassay_014163|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|604490;HPO|26278|Absent Achilles reflex, Autosomal recessive inheritance, Babinski sign, Cerebellar vermis atrophy, Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Dysmetria, Falls, Hammertoe, Hypermyelinated retinal nerve fibers, Hyperreflexia, Impaired smooth pursuit, Impaired vibration sensation in the lower limbs, Infantile onset, Intellectual disability, Loss of Purkinje cells in the cerebellar vermis, Nystagmus, Pes cavus, Progressive gait ataxia, Progressive truncal ataxia, Scanning speech, Spastic ataxia, Spasticity, Swan neck-like deformities of the fingers, Urinary urgency
nIN3	MARK3	0.256808444	4.23E-05	Serine/threonine kinase	BrainSpLMD|4140	OMIM|602678
nIN3	SNTG1	0.772625196	4.76E-05	Adapter molecule	BrainSpLMD|54212	OMIM|608714
nIN3	SH3BGRL3	0.947726202	5.05E-05	Unclassified	BrainSpLMD|83442;Eurexp|euxassay_003517|basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, thymus primordium, trigeminal V, vagus X, ventral grey horn	OMIM|615679
nIN3	C2orf68	0.385897566	5.14E-05	Unclassified		
nIN3	HSP90AB3P	0.519769234	6.04E-05			
nIN3	RPS6KB1	0.709182675	8.84E-05	Serine/threonine kinase	BrainSpLMD|6198	OMIM|608938
nIN3	KLHL13	1.463637197	0.000105518	Cytoskeletal associated protein	BrainSpLMD|90293;Eurexp|euxassay_010975|diaphragm, footplate, handplate, mantle layer, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, vertebral axis muscle system	OMIM|300655
nIN3	UGGT2	0.355720466	0.000116326	Enzyme: Glycosyltransferase	BrainSpLMD|55757	OMIM|605898
nIN3	PNRC1	1.358725366	0.000116674	Unclassified	BrainSpLMD|10957	OMIM|606714
nIN3	MYO1B	0.732559564	0.000123931	Motor protein	BrainSpLMD|4430;Eurexp|euxassay_006192|mantle layer, olfactory, ventricular layer	OMIM|606537
nIN3	AC098824.6	0.564019114	0.000129118			
nIN3	HSPE1	0.617459316	0.00016097	Heat shock protein	BrainSpLMD|3336	OMIM|600141
nIN3	GPBP1	0.319156644	0.000163845	Transcription regulatory protein	BrainSpLMD|65056	OMIM|608412
nIN3	H1F0	1.071907878	0.00017603	DNA binding protein	BrainSpLMD|3005;Eurexp|euxassay_006503|embryo	OMIM|142708
nIN3	FIGN	1.133919238	0.000178074	ATPase	BrainSpLMD|55137;Eurexp|euxassay_013646|dorsal grey horn, mantle layer, marginal layer, ventral grey horn	OMIM|605295
nIN3	POLE3	0.461578114	0.00018448	DNA binding protein	BrainSpLMD|54107	OMIM|607267
nIN3	SATB1	1.120561473	0.00019889	Transcription factor	BrainSpLMD|6304;Eurexp|euxassay_018001|cervical, cervico-thoracic, dorsal root ganglion, epidermis, facial VII, glossopharyngeal IX, marginal layer, neural retina, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|19993	OMIM|602075
nIN3	CADPS	1.05769756	0.000207652	Membrane transport protein	BrainSpLMD|8618;Eurexp|euxassay_006311|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral wall, mantle layer, meninges, neural retina, olfactory, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|604667
nIN3	CLK4	0.584828082	0.00021484	Dual specificity kinase	BrainSpLMD|57396	OMIM|607969
nIN3	BRINP2	1.779367826	0.000221273	Unclassified	BrainSpLMD|57795	
nIN3	EFNA5	0.932972962	0.000246499	Ligand	BrainSpLMD|1946;BrainSpMouseDev|13418	OMIM|601535
nIN3	MYL6	0.533085726	0.000292571	Cytoskeletal protein	BrainSpLMD|4637	OMIM|609931
nIN3	DIMT1	1.223662014	0.000293332	Unclassified	BrainSpLMD|27292;Eurexp|euxassay_001602|ventricular layer	OMIM|612499
nIN3	RP11.1023L17.1	0.875755028	0.000305511			
nIN3	NUDCD2	0.384361498	0.000310831	Unclassified	BrainSpLMD|134492;Eurexp|euxassay_006946|embryo	
nIN3	RTFDC1	0.449657125	0.000344918	Unclassified	BrainSpLMD|51507;Eurexp|euxassay_006308|embryo	
nIN3	DLL1	1.51696531	0.00038691	Calcium binding protein	BrainSpLMD|28514;Eurexp|euxassay_014876|anterior, calyces, diaphragm, extrinsic, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, intrinsic, marginal layer, midgut, olfactory, olfactory lobe, paraxial mesenchyme, rectum, rest of mesenchyme, retina, stomach, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|13167	OMIM|606582
nIN3	TP53INP1	0.988549542	0.000428928	Cell cycle control protein	BrainSpLMD|94241	OMIM|606185
nIN3	SMARCA5	0.718154888	0.000436449	DNA binding protein	BrainSpLMD|8467;Eurexp|euxassay_019564|olfactory	OMIM|603375
nIN3	PPP4R2	1.355979671	0.000444924	Serine/threonine phosphatase	BrainSpLMD|151987	OMIM|613822
nIN3	MXD1	1.340421026	0.000445238	Transcription regulatory protein	BrainSpLMD|4084;BrainSpMouseDev|16889	OMIM|600021
nIN3	ZNF738	0.669403324	0.00044766	Transcription regulatory protein	BrainSpLMD|148203	
nIN3	RPL21	0.296864408	0.00045151	Ribosomal subunit		OMIM|603636;HPO|6144|Alopecia, Aplasia/Hypoplasia of the eyebrow, Autosomal dominant inheritance, Hypotrichosis, Hypotrichosis of the scalp, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Sparse or absent eyelashes
nIN3	IGDCC3	1.184787922	0.00046129	Unclassified	BrainSpLMD|9543	OMIM|604184
nIN3	FOS	0.507755767	0.000474962	Transcription factor	BrainSpLMD|2353;Eurexp|euxassay_012634|mandible, maxilla;BrainSpMouseDev|14058	OMIM|164810;HPO|2353|Abnormality of skin pigmentation, Acanthosis nigricans, Accelerated skeletal maturation, Bone cyst, Broad foot, Diabetes mellitus, Generalized hirsutism, Growth hormone excess, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hyperinsulinemia, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Insulin resistance, Intellectual disability, Large hands, Lipoatrophy, Mandibular prognathia, Precocious puberty, Prominent supraorbital ridges, Skeletal muscle hypertrophy
nIN3	KLF6	0.341332895	0.000526823	Transcription factor	BrainSpLMD|1316;Eurexp|euxassay_018886|mantle layer, marginal layer;BrainSpMouseDev|23602	OMIM|602053;COSMIC||prostate, glioma;HPO|1316|Autosomal dominant inheritance, Prostate cancer, Somatic mutation, Stomach cancer
nIN3	RAB30	1.072083123	0.000552796	GTPase	BrainSpLMD|27314;Eurexp|euxassay_002971|basal plate, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|605693
nIN3	DNMT3A	0.820632243	0.000606076	DNA methyltransferase	BrainSpLMD|1788;BrainSpMouseDev|13214	SFARI||Autism, 3 - Suggestive evidence;OMIM|602769;COSMIC||AML;HPO|1788|Autosomal dominant inheritance, Blepharophimosis, Intellectual disability, Macrocephaly, Round face, Tall stature
nIN3	RP11.631M6.2	1.166225665	0.000606482			
nIN3	KIF21B	0.716850438	0.000643555	Unclassified	BrainSpLMD|23046;Eurexp|euxassay_011005|dorsal root ganglion, facial VII, forebrain, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|608322
nIN3	ST8SIA4	0.840161481	0.000737592	Enzyme: Sialyltransferase	BrainSpLMD|7903;Eurexp|euxassay_007776|brain, dorsal root ganglion, left lung, mesenchyme, neural retina, olfactory, organ system, right lung, spinal cord, trigeminal V	OMIM|602547
nIN3	DST	0.781950502	0.000743766	Cytoskeletal associated protein	BrainSpLMD|667;Eurexp|euxassay_016245|incisor, molar, oesophagus, olfactory, oral epithelium, stomach, urethra, vibrissa;BrainSpMouseDev|13297	SFARI||Autism, 4 - Minimal evidence;OMIM|113810;HPO|667|Alacrima, Apnea, Areflexia, Atrophic scars, Autosomal recessive inheritance, Blotching pigmentation of the skin, Bradycardia, Corneal scarring, Feeding difficulties, Fever, Flexion contracture, Growth delay, Hand clenching, Hyperhidrosis, Limited hip extension, Neonatal hypotonia, Open mouth, Respiratory insufficiency, Sensory neuropathy, Tachycardia, Talipes equinovarus
nIN3	CBL	0.890491532	0.00076407	Ubiquitin proteasome system protein	BrainSpLMD|867	OMIM|165360;COSMIC||AML, JMML, MDS;HPO|867|Aortic valve stenosis, Autosomal dominant inheritance, Bicuspid aortic valve, Cafe-au-lait spot, Cryptorchidism, Cubitus valgus, Deep philtrum, Delayed speech and language development, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Fine hair, Frontal bossing, Generalized hypotonia, Global developmental delay, Hypertelorism, Joint hypermobility, Joint laxity, Juvenile myelomonocytic leukemia, Long philtrum, Low-set ears, Macrotia, Mitral regurgitation, Pectus excavatum, Phenotypic variability, Posteriorly rotated ears, Ptosis, Short neck, Somatic mutation, Sparse hair, Thick vermilion border, Triangular face, Webbed neck, Wide intermamillary distance
nIN3	DDX3Y	0.352964692	0.000786011	RNA binding protein	BrainSpLMD|8653	OMIM|400010;HPO|8653|Azoospermia, Decreased testicular size, Male infertility, Non-obstructive azoospermia, Oligospermia, Y-linked inheritance
nIN3	EIF1	0.451627691	0.000789901	Translation regulatory protein	BrainSpLMD|10209	
nIN3	CITED2	1.235637464	0.000806379	Transcription regulatory protein	BrainSpLMD|10370;BrainSpMouseDev|17451	OMIM|602937;HPO|10370|Abnormal nasal morphology, Atrial septal defect, Autosomal dominant inheritance, Brachydactyly, Broad forehead, Clinodactyly of the 5th finger, Cryptorchidism, Dolichocephaly, Intrauterine growth retardation, Perimembranous ventricular septal defect, Preauricular pit, Proptosis, Tetralogy of Fallot, Thin vermilion border, Underdeveloped supraorbital ridges
nIN3	AKNA	1.002428053	0.00088935	Transcription factor	BrainSpLMD|80709;Eurexp|euxassay_019530|marginal layer, neural retina, olfactory, thymus primordium, ventricular layer, vomeronasal organ;BrainSpMouseDev|64352	OMIM|605729
nIN3	ARPC3	0.282290146	0.000928107	Cytoskeletal associated protein		OMIM|604225
nIN3	RHOB	0.897361515	0.000933978	GTPase	BrainSpLMD|388;Eurexp|euxassay_016450|floor plate, floorplate, mantle layer, marginal layer	OMIM|165370
nIN3	TCF4	0.401623475	0.000960986	Transcription factor	BrainSpLMD|6925;BrainSpMouseDev|21174	SFARI||Autism, No category;OMIM|602272;HPO|6925|Abnormal large intestine physiology, Abnormality of the palate, Absent speech, Aggressive behavior, Anteverted nares, Aphasia, Ascites, Astigmatism, Ataxia, Autoimmunity, Autosomal dominant inheritance, Cirrhosis, Clinodactyly, Clubbing, Coarse facial features, Constipation, Cryptorchidism, Cupped ear, Deeply set eye, Dilated superficial abdominal veins, Dysautonomia, Dysphasia, Echolalia, Elevated alkaline phosphatase of hepatic origin, Elevated hepatic transaminases, Encephalopathy, Esophagitis, Failure of eruption of permanent teeth, Failure to thrive, Feeding difficulties, Fever, Full cheeks, Gait ataxia, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Hepatosplenomegaly, Hiatus hernia, Hypoplasia of the corpus callosum, Incoordination, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intermittent hyperventilation, Microcephaly, Micropenis, Misalignment of teeth, Motor delay, Muscular hypotonia, Mutism, Myopia, Narrow foot, Narrow forehead, Open mouth, Palmar telangiectasia, Pes planus, Pes valgus, Portal hypertension, Seizures, Short neck, Short philtrum, Single transverse palmar crease, Sleep apnea, Specific learning disability, Spider hemangioma, Splenomegaly, Strabismus, Tapered finger, Thick vermilion border, Thickened helices, Ulcerative colitis, Upslanted palpebral fissure, Weight loss, Wide mouth, Wide nasal bridge, Widely spaced teeth
nIN3	BMPR2	1.195164214	0.000966527	Receptor serine/threonine kinase	BrainSpLMD|659;Eurexp|euxassay_008027|dorsal root ganglion, glossopharyngeal IX, neural retina, trigeminal V;BrainSpMouseDev|11954	OMIM|600799;HPO|659|Abnormal thrombosis, Arterial intimal fibrosis, Autosomal dominant inheritance, Dyspnea, Elevated jugular venous pressure, Elevated right atrial pressure, Hypertension, Incomplete penetrance, Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis, Pulmonary venous occlusion, Right ventricular failure, Right ventricular hypertrophy, Telangiectasia
nIN3	RBM4B	0.725855298	0.001025724	RNA binding protein	BrainSpLMD|83759	
nIN3	AC018643.4	1.00135834	0.001080583			
nIN3	MOB3B	1.00355646	0.001084008	Unclassified	BrainSpLMD|79817;Eurexp|euxassay_011555|incisor, molar	OMIM|617652
nIN3	CLOCK	0.743913916	0.001116358	Transcription factor	BrainSpLMD|9575;BrainSpMouseDev|12537	OMIM|601851
nIN3	COX7A2L	0.375980064	0.001293031	Enzyme: Oxidase	BrainSpLMD|9167	OMIM|605771
nIN3	TPGS2	1.126603948	0.001300774	Unclassified	BrainSpLMD|25941;Eurexp|euxassay_005064|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, molar, neural retina, olfactory, respiratory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	
nIN3	ADAR	0.2795595	0.001325402	Enzyme: Deaminase	BrainSpLMD|103;Eurexp|euxassay_018648|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|146920;HPO|103|Arrhinencephaly, Autosomal dominant inheritance, Autosomal recessive inheritance, Cleft eyelid, Dystonia, Global developmental delay, Hemiplegia/hemiparesis, Hyperpigmented/hypopigmented macules, Infantile onset, Intellectual disability, profound, Loss of ability to walk, Loss of speech, Macular hyperpigmentation, Macular hypopigmentation, Macule, Porencephalic cyst, Rigidity, Spasticity, Torsion dystonia, Tremor
nIN3	KIAA1328	1.162085418	0.0013862	Unclassified	BrainSpLMD|57536	OMIM|616480
nIN3	USP9Y	0.870532766	0.001402314	Ubiquitin proteasome system protein	BrainSpLMD|8287	SFARI||Autism, No category;OMIM|400005;HPO|8287|Azoospermia, Decreased testicular size, Male infertility, Non-obstructive azoospermia, Oligospermia, Y-linked inheritance
nIN3	CCT4	0.69848589	0.001443794	Chaperone	BrainSpLMD|10575	SFARI||Autism, 3 - Suggestive evidence;OMIM|605142
nIN3	LYRM2	0.343204185	0.001553615	Enzyme: Oxidoreductase	BrainSpLMD|57226	
nIN3	GABPB1.AS1	0.505922933	0.001652822			
nIN3	MNAT1	0.547695712	0.001921696	Cell cycle control protein	BrainSpLMD|4331	OMIM|602659
nIN3	SMEK1	0.933994776	0.001948671			
nIN3	DUSP10	1.364433358	0.001996049	Enzyme: Phosphatase;Enzyme: Phosphohydrolase	BrainSpLMD|11221	OMIM|608867
nIN3	CTC.444N24.11	0.464373708	0.002072331			
nIN3	HSPB1	0.94892684	0.002273838	Chaperone	BrainSpLMD|3315	OMIM|602195;HPO|3315|Adult onset, Areflexia, Areflexia of lower limbs, Autosomal dominant inheritance, Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Difficulty walking, Distal amyotrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Distal sensory impairment, EMG: chronic denervation signs, EMG: neuropathic changes, Fasciculations, Foot dorsiflexor weakness, Heterogeneous, Hyporeflexia, Hyporeflexia of lower limbs, Impaired pain sensation, Impaired temperature sensation, Limb fasciculations, Lower limb muscle weakness, Muscle cramps, Paresis of extensor muscles of the big toe, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Reduced tendon reflexes, Slow progression, Split hand, Steppage gait, Talipes equinovarus, Ulnar claw, Upper limb amyotrophy
nIN3	PAFAH1B3	0.340473207	0.002336087	Enzyme: Acyltransferase	BrainSpLMD|5050	OMIM|603074
nIN3	KCNH8	0.89467906	0.002345667	Voltage gated channel	BrainSpLMD|131096	OMIM|608260
nIN3	BROX	0.292986063	0.002439725	Unclassified		
nIN3	RNF149	0.504548283	0.002453664	Ubiquitin proteasome system protein	BrainSpLMD|284996	
nIN3	CRB1	0.691986889	0.00256395	Unclassified	BrainSpLMD|23418	OMIM|604210;HPO|23418|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Encephalocele, Esotropia, Glaucoma, Hemiplegia/hemiparesis, High-grade hypermetropia, Hyperinsulinemia, Hypermetropia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Muscular hypotonia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paravenous chorioretinal atrophy, Pendular nystagmus, Photophobia, Progressive night blindness, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe visual impairment, Undetectable electroretinogram, Visual impairment, Vitreoretinal degeneration, Wide nasal bridge
nIN3	SIAH3	1.166941185	0.002588967	Unclassified	BrainSpLMD|283514	OMIM|615609
nIN3	RAB5B	0.47481223	0.002647439	GTPase	BrainSpLMD|5869	OMIM|179514
nIN3	CNOT2	0.408367642	0.002699341	Transcription regulatory protein	BrainSpLMD|4848	OMIM|604909
nIN3	SFSWAP	0.962571424	0.00270501	RNA binding protein	BrainSpLMD|6433	OMIM|601945
nIN3	PDHA1	0.382687049	0.002709389	Enzyme: Dehydrogenase	BrainSpLMD|5160	OMIM|300502;HPO|5160|Abnormality of eye movement, Agenesis of corpus callosum, Anteverted nares, Apneic episodes precipitated by illness, fatigue, stress, Basal ganglia cysts, Cerebral atrophy, Choreoathetosis, Chronic lactic acidosis, Decreased activity of the pyruvate dehydrogenase complex, Dystonia, Episodic ataxia, Flared nostrils, Frontal bossing, Generalized hypotonia, Global developmental delay, Hyperalaninemia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lethargy, Long philtrum, Microcephaly, Phenotypic variability, Ptosis, Seizures, Severe lactic acidosis, Small for gestational age, Ventriculomegaly, Wide nasal bridge, X-linked dominant inheritance
nIN3	ASF1A	0.343318162	0.002755302	Chaperone	BrainSpLMD|25842;Eurexp|euxassay_006843|cortex, incisor, left lung, marginal layer, oesophagus, right lung, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|609189
nIN3	INA	1.099614461	0.002996713	Cytoskeletal protein	BrainSpLMD|9118;Eurexp|euxassay_012424|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|605338
nIN3	CENPC	0.592725138	0.003035729	DNA binding protein	BrainSpLMD|1060	OMIM|117141
nIN3	ATP8A1	0.682500899	0.00321082	ATPase	BrainSpLMD|10396;Eurexp|euxassay_018768|anterior, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, neural retina, olfactory, rectum, right lung, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|11766	SFARI||Autism, 5 - Hypothesized but untested;OMIM|609542
nIN3	CH17.472G23.4	1.066256306	0.003297782			
nIN3	ACTR10	0.526882154	0.003369912	Cytoskeletal associated protein	BrainSpLMD|55860	
nIN3	ST7	0.748342401	0.003485251	Cell cycle control protein	BrainSpLMD|7982;Eurexp|euxassay_007207|brain, spinal cord;BrainSpMouseDev|40846	SFARI||Autism, 4 - Minimal evidence;OMIM|600833
nIN3	NEDD4L	0.666828196	0.003578452	Ubiquitin proteasome system protein	BrainSpLMD|23327;Eurexp|euxassay_011535|brain, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, metanephros, midgut, neural retina, oesophagus, olfactory, pancreas, rectum, renal/urinary system, rest of mesenchyme, skeletal muscle, spinal cord, stomach, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|606384;HPO|23327|2-3 toe syndactyly, Autosomal dominant inheritance, Cleft palate, Congenital onset, Cryptorchidism, Global developmental delay, Intellectual disability, Micrognathia, Muscular hypotonia of the trunk, Strabismus
nIN3	IGF1R	0.597016905	0.003587242	Receptor tyrosine kinase	BrainSpLMD|3480;BrainSpMouseDev|15774	OMIM|147370;HPO|3480|Abnormal facial shape, Abnormality of the rib cage, Agitation, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Broad nasal tip, Clinodactyly, Congenital onset, Decreased body weight, Delayed skeletal maturation, Delayed speech and language development, Everted lower lip vermilion, Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}, Intellectual disability, Intrauterine growth retardation, Long philtrum, Microcephaly, Motor delay, Pectus excavatum, Radial deviation of finger, Short palm, Short stature, Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Wide intermamillary distance, Wide nasal bridge
nIN3	ASAP1	1.085484512	0.003660303	GTPase activating protein	BrainSpLMD|50807	OMIM|605953
nIN3	GABBR1	0.591687115	0.003797245	G protein coupled receptor	BrainSpLMD|2550;Eurexp|euxassay_009799|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|33684	OMIM|603540
nIN3	PKD2	0.705267989	0.003887777	Membrane transport protein	BrainSpLMD|5311	OMIM|173910;HPO|5311|Autosomal dominant inheritance, Elevated serum creatinine, Incomplete penetrance, Polycystic kidney dysplasia, Progressive, Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease
nIN3	STIP1	1.012950213	0.003905599	Adapter molecule	BrainSpLMD|10963	OMIM|605063
nIN3	PRPF40A	0.37922425	0.003985974	RNA binding protein	BrainSpLMD|55660	OMIM|612941
nIN3	LSAMP	0.693376459	0.004019609	Adhesion molecule	BrainSpLMD|4045	OMIM|603241
nIN3	CDKN1C	0.533966806	0.004041849	Cell cycle control protein	BrainSpLMD|1028	OMIM|600856;HPO|1028|Accelerated skeletal maturation, Adrenal hypoplasia, Adrenocortical carcinoma, Adrenocortical cytomegaly, Autosomal dominant inheritance, Cardiomegaly, Cardiomyopathy, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Decreased testicular size, Delayed skeletal maturation, Depressed nasal bridge, Diastasis recti, Enlarged kidney, Epiphyseal dysplasia, Frontal bossing, Gonadoblastoma, Growth hormone deficiency, Hemihypertrophy, Hepatoblastoma, Hepatomegaly, Hydronephrosis, Hypercalcemia, Hypercalciuria, Hypogonadism, Hypospadias, Intrauterine growth retardation, Large fontanelles, Low-set ears, Macroglossia, Metaphyseal dysplasia, Micromelia, Micropenis, Midface retrusion, Muscular hypotonia, Neonatal hypoglycemia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Omphalocele, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Posterior helix pit, Postnatal growth retardation, Prominent forehead, Prominent metopic ridge, Prominent occiput, Proptosis, Renal cortical cysts, Short nose, Short stature, Vesicoureteral reflux
nIN3	ACTG1	0.546644154	0.004088246	Structural protein	BrainSpLMD|71	OMIM|102560;HPO|71|Abnormality of the pinna, Aphasia, Autosomal dominant inheritance, Bilateral sensorineural hearing impairment, Cerebral cortical hemiatrophy, Coarse facial features, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Dysphasia, Echolalia, Epicanthus, Euryblepharon, Failure to thrive, Feeding difficulties, Full cheeks, Global developmental delay, Growth delay, Heterochromia iridis, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypertelorism, Intellectual disability, Iris coloboma, Joint stiffness, Large fontanelles, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Low posterior hairline, Macrogyria, Microcephaly, Micrognathia, Mutism, Osteochondrosis, Pachygyria, Pointed chin, Polymicrogyria, Progressive sensorineural hearing impairment, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Seizures, Short columella, Short neck, Skeletal dysplasia, Specific learning disability, Subcortical cerebral atrophy, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Trigonocephaly, Wide mouth, Wide nasal bridge, Wide nose, Young adult onset
nIN3	SGCB	0.387296009	0.004268321	Structural protein	BrainSpLMD|6443;Eurexp|euxassay_000202|cervico-thoracic, dorsal root ganglion, extraembryonic component, ganglion, glossopharyngeal IX, mantle layer, muscle, nerve trunk, skeletal muscle, thoracic, trigeminal V, vagus X, ventral grey horn, vertebral axis muscle system	OMIM|600900;HPO|6443|Autosomal recessive inheritance, Calf muscle pseudohypertrophy, Elevated serum creatine phosphokinase, Juvenile onset, Limb-girdle muscle weakness, Muscular dystrophy, Pelvic girdle muscle atrophy, Proximal amyotrophy, Scapular winging, Shoulder girdle muscle atrophy
nIN3	AMFR	1.145981929	0.004293728	Ubiquitin proteasome system protein	BrainSpLMD|267;Eurexp|euxassay_003433|left, right	OMIM|603243
nIN3	LSM14A	0.323847297	0.004323901	Unclassified	BrainSpLMD|26065	OMIM|610677;COSMIC||Spitzoid tumour
nIN3	SLC25A6	0.688468617	0.004376293	Transport/cargo protein		OMIM|403000
nIN3	UQCRC2	0.358860488	0.004380379	Enzyme: Reductase	BrainSpLMD|7385;Eurexp|euxassay_018923|aorta, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, vibrissa	OMIM|191329;HPO|7385|Autosomal recessive inheritance, Hyperammonemia, Hypoglycemia, Increased serum lactate, Increased serum pyruvate, Metabolic acidosis
nIN3	KALRN	0.714996453	0.004385205	Guanine nucleotide exchange factor	BrainSpLMD|8997	OMIM|604605
nIN3	KCNQ1OT1	0.255460802	0.004492865			OMIM|604115;HPO|10984|Abnormality of the dentition, Accelerated skeletal maturation, Adrenocortical carcinoma, Adrenocortical cytomegaly, Asymmetry of the thorax, Autosomal dominant inheritance, Cardiomegaly, Cardiomyopathy, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Diastasis recti, Enlarged kidney, Facial asymmetry, Gonadoblastoma, Hemihypertrophy, Hepatoblastoma, Hepatomegaly, Intellectual disability, mild, Large fontanelles, Macroglossia, Midface retrusion, Neonatal hypoglycemia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Omphalocele, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Posterior helix pit, Prominent metopic ridge, Prominent occiput, Proptosis, Renal cortical cysts, Scoliosis, Vesicoureteral reflux
nIN3	SUPT20H	0.49048862	0.004582411	Transcription regulatory protein	BrainSpLMD|55578;Eurexp|euxassay_002226|foregut-midgut junction, hindgut, midgut, rectum, stomach	OMIM|613417
nIN3	ARL4D	1.408442645	0.004813154	GTPase	BrainSpLMD|379	OMIM|600732
nIN3	LRRC37A	1.091995018	0.004831648	Unclassified		OMIM|616555
nIN3	CACYBP	0.8590481	0.004849198	Ubiquitin proteasome system protein	BrainSpLMD|27101;Eurexp|euxassay_006213|brain, cervical, cervico-thoracic, cortex, diencephalon, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, left, mandible, maxilla, midbrain, molar, olfactory, orbito-sphenoid, right, spinal cord, submandibular gland primordium, telencephalon, thoracic, thymus primordium, trigeminal V, vertebral axis muscle system, vibrissa	OMIM|606186
nIN3	GFPT1	0.309166487	0.004918901	Enzyme: Aminotransferase	BrainSpLMD|2673	OMIM|138292;HPO|2673|Abnormality of the immune system, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Decreased fetal movement, Decreased muscle mass, Decreased size of nerve terminals, Dental malocclusion, Dysarthria, Dysphagia, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, Easy fatigability, Facial palsy, Fatigable weakness, Feeding difficulties, Generalized hypotonia, Gowers sign, High palate, Infantile onset, Juvenile onset, Long face, Mandibular prognathia, Mildly elevated creatine phosphokinase, Motor delay, Muscle cramps, Muscular hypotonia, Neck muscle weakness, Nonprogressive, Ophthalmoparesis, Proximal amyotrophy, Ptosis, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Strabismus, Type 2 muscle fiber atrophy, Variable expressivity, Waddling gait, Weak cry
nIN3	HNRNPA1P10	0.698472503	0.005186607			
nIN3	RP11.592N21.1	1.237859379	0.005188559			
nIN3	HSF2	0.398489575	0.005416201	Heat shock protein	BrainSpLMD|3298	OMIM|140581
nIN3	SNHG14	0.251213267	0.005484276			OMIM|616259
nIN3	LAPTM4A	0.385760647	0.005601409	Membrane transport protein	BrainSpLMD|9741	
nIN3	KIZ	1.33397933	0.00588051	Unclassified	BrainSpLMD|55857;Eurexp|euxassay_013723|mantle layer, marginal layer, olfactory, thyroid, ventricular layer	OMIM|615757;HPO|55857|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Pigmentary retinopathy, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Undetectable electroretinogram, Wide nasal bridge
nIN3	SLC25A36	0.648978927	0.005964907	Transport/cargo protein	BrainSpLMD|55186	OMIM|616149
nIN3	DIP2C	0.916209987	0.005997069	Unclassified	BrainSpLMD|22982	SFARI||Autism, 2 - Strong candidate;OMIM|611380
nIN3	PPFIA1	0.402309439	0.006000892	Anchor protein	BrainSpLMD|8500	SFARI||Autism, No category;OMIM|611054
nIN3	ZC3H14	0.371751817	0.006415746	RNA binding protein	BrainSpLMD|79882	OMIM|613279;HPO|79882|Autosomal recessive inheritance, Intellectual disability
nIN3	CLK1	0.416202036	0.006524855	Dual specificity kinase	BrainSpLMD|1195	OMIM|601951
nIN3	UTP23	1.563649923	0.006582746	Unclassified	BrainSpLMD|84294	
nIN3	KRAS	0.324483379	0.007201845	GTPase	BrainSpLMD|3845	OMIM|190070;COSMIC||pancreatic, colorectal, lung, thyroid, AML, other tumour types;HPO|3845|Abdominal pain, Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of cardiovascular system morphology, Abnormality of coagulation, Abnormality of dental color, Abnormality of dental morphology, Abnormality of finger, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Abnormality of the spleen, Abnormality of the ulna, Abnormality of the ureter, Abnormality of toe, Abnormality of vision, Absent eyebrow, Absent septum pellucidum, Acute myeloid leukemia, Adenoma sebaceum, Aganglionic megacolon, Agenesis of corpus callosum, Alopecia, Alveolar cell carcinoma, Anteverted nares, Anxiety, Aphasia, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the skin, Arrhythmia, Asymmetric growth, Atrial septal defect, Atrial septal dilatation, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Basal cell carcinoma, Biparietal narrowing, Blepharophimosis, Bone cyst, Brachydactyly, Breast carcinoma, Brittle hair, Broad forehead, Capillary hemangiomas, Cavernous hemangioma, Cerebral calcification, Cerebral cortical atrophy, Chronic atrophic gastritis, Coarctation of aorta, Coarse facial features, Coarse hair, Coloboma, Colon cancer, Constipation, Corneal opacity, Cranial asymmetry, Craniofacial hyperostosis, Cryptorchidism, Curly hair, Cystic hygroma, Death in early adulthood, Death in infancy, Deep palmar crease, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Downslanted palpebral fissures, Dry skin, Dysarthria, Dysphasia, Dystrophic fingernails, EEG abnormality, Echolalia, Enlarged thorax, Epibulbar dermoid, Epicanthus, Excessive wrinkled skin, Facial asymmetry, Failure to thrive, Failure to thrive in infancy, Fatigue, Feeding difficulties, Feeding difficulties in infancy, Fine hair, Frontal bossing, Full cheeks, Gastrointestinal hemorrhage, Generalized hyperpigmentation, Genu recurvatum, Glioblastoma, Global developmental delay, Growth delay, Hearing impairment, Hemangioma, Hemimegalencephaly, Hepatomegaly, Heterogeneous, High forehead, High palate, Horseshoe kidney, Hyperextensible skin, Hyperreflexia, Hypertelorism, Hypertonia, Hypogonadotrophic hypogonadism, Hypophosphatemic rickets, Hypopigmentation of the skin, Hypoplasia of the zygomatic bone, Ichthyosis, Increased intracranial pressure, Intellectual disability, Iris coloboma, Irregular hyperpigmentation, Irritability, Joint hyperflexibility, Juvenile myelomonocytic leukemia, Kyphoscoliosis, Laryngeal hypoplasia, Lipodystrophy, Long face, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Malabsorption, Melanocytic nevus, Micrognathia, Microphthalmia, Midface retrusion, Migraine, Mitral valve prolapse, Multiple cafe-au-lait spots, Multiple lentigines, Multiple lipomas, Muscle stiffness, Muscle weakness, Muscular hypotonia, Mutism, Myopia, Nausea and vomiting, Neoplasm of the pancreas, Neoplasm of the rectum, Neoplasm of the skeletal system, Nevus flammeus, Nevus sebaceous, Nystagmus, Osteolysis, Osteopenia, Overgrowth, Palmoplantar keratoderma, Pectus carinatum, Pectus excavatum, Peripheral axonal neuropathy, Plagiocephaly, Polyhydramnios, Porencephalic cyst, Posteriorly rotated ears, Premature birth, Prominent occiput, Proptosis, Ptosis, Pulmonary arterial hypertension, Pulmonary artery stenosis, Pulmonic stenosis, Recurrent fractures, Reduced tendon reflexes, Retinopathy, Rigidity, Sagittal craniosynostosis, Scoliosis, Seizures, Short neck, Short nose, Short palm, Short palpebral fissure, Short stature, Slow-growing hair, Somatic mosaicism, Somatic mutation, Sparse hair, Sparse or absent eyelashes, Spasticity, Sporadic, Stomach cancer, Strabismus, Subcortical cerebral atrophy, Subcutaneous nodule, Telecanthus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Transitional cell carcinoma of the bladder, Triangular face, Tricuspid valve prolapse, Underdeveloped supraorbital ridges, Ventricular septal defect, Ventriculomegaly, Vertebral segmentation defect, Visceral angiomatosis, Webbed neck, Weight loss, Wide intermamillary distance, Xanthomatosis
nIN3	FOXRED1	0.307999443	0.007525643	Unclassified	BrainSpLMD|55572	OMIM|613622;HPO|55572|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, CNS demyelination, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Dysarthria, Dystonia, Emotional lability, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Gliosis, Global developmental delay, Growth delay, Hepatic failure, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Phenotypic variability, Pigmentary retinopathy, Progressive, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
nIN3	HYDIN2	0.517827119	0.007587438			OMIM|610813
nIN3	MUM1	0.8610157	0.007651237	Unclassified	BrainSpLMD|84939;Eurexp|euxassay_005157|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lung, mantle layer, metanephros, molar, naris, olfactory, respiratory, retina, thoracic, thymus primordium, tongue, trigeminal V, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	
nIN3	FAM193B	1.158675401	0.007725824	DNA binding protein		OMIM|615813
nIN3	HMBOX1	0.3138067	0.007761613	Transcription factor	BrainSpLMD|79618;Eurexp|euxassay_010119|basal columns, mantle layer;BrainSpMouseDev|85487	
nIN3	HOOK3	0.81812012	0.007882173	Cytoskeletal associated protein	BrainSpLMD|84376	OMIM|607825;COSMIC||papillary thyroid
nIN3	FGFR1OP2	0.908261088	0.008124271	Unclassified	BrainSpLMD|26127;Eurexp|euxassay_012453|thymus primordium	OMIM|608858
nIN3	HIP1	0.446935337	0.00825678	Structural protein	BrainSpLMD|3092	OMIM|601767;COSMIC||CMML, NSCLC
nIN3	RPL5P23	1.442746245	0.008271815			
nIN3	IGF2BP1	1.512433293	0.008321941	RNA binding protein	BrainSpLMD|10642;Eurexp|euxassay_000116|capsule, cortex, lens, mesenchyme, metanephros, physiological umbilical hernia, retina	OMIM|608288
nIN3	RASA1	0.478444922	0.008380663	GTPase activating protein	BrainSpLMD|5921	OMIM|139150;HPO|5921|Abnormal bleeding, Arteriovenous fistula, Arteriovenous malformation, Autosomal dominant inheritance, Basal cell carcinoma, Capillary hemangiomas, Hypertrophy of the lower limb, Hypertrophy of the upper limb, Nevus flammeus, Peripheral arteriovenous fistula, Telangiectasia of the skin, Varicose veins
nIN3	KLF7	0.805574292	0.008544772	Transcription factor	BrainSpLMD|8609;Eurexp|euxassay_003485|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, respiratory, stroma, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII;BrainSpMouseDev|60343	OMIM|604865
nIN3	DNAJB6	0.539839527	0.009029029	Chaperone	BrainSpLMD|10049;Eurexp|euxassay_001462|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V	OMIM|611332;HPO|10049|Adult onset, Autosomal dominant inheritance, Difficulty climbing stairs, Dysphagia, Elevated serum creatine phosphokinase, Gowers sign, Muscle fiber splitting, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Shoulder girdle muscle weakness, Slow progression, Waddling gait
nIN3	NDUFAB1	0.444505474	0.009085784	Enzyme: Oxidoreductase	BrainSpLMD|4706;Eurexp|euxassay_018913|pancreas, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|603836
nIN3	FAM179B	0.59769437	0.009200727			
nIN3	WDR44	1.808983002	0.009321214	Transport/cargo protein	BrainSpLMD|54521;Eurexp|euxassay_006374|skeletal muscle	
nIN3	DPYSL3	0.446459984	0.009854328	Enzyme: Hydrolase	BrainSpLMD|1809;Eurexp|euxassay_010399|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, midbrain, midgut, neural retina, olfactory, stomach, telencephalon, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|601168
nIN4	PFN2	1.553564074	0	Structural protein	BrainSpLMD|5217;Eurexp|euxassay_002518|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|176590
nIN4	NKX2.1	2.694780692	1.11E-16			
nIN4	SOX6	2.32163373	1.44E-15	Transcription factor	BrainSpLMD|55553;BrainSpMouseDev|20441	OMIM|607257
nIN4	DLX6.AS1	0.947263421	1.67E-15			
nIN4	SACS	2.03537713	2.89E-15	Unclassified	BrainSpLMD|26278;Eurexp|euxassay_014163|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|604490;HPO|26278|Absent Achilles reflex, Autosomal recessive inheritance, Babinski sign, Cerebellar vermis atrophy, Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Dysmetria, Falls, Hammertoe, Hypermyelinated retinal nerve fibers, Hyperreflexia, Impaired smooth pursuit, Impaired vibration sensation in the lower limbs, Infantile onset, Intellectual disability, Loss of Purkinje cells in the cerebellar vermis, Nystagmus, Pes cavus, Progressive gait ataxia, Progressive truncal ataxia, Scanning speech, Spastic ataxia, Spasticity, Swan neck-like deformities of the fingers, Urinary urgency
nIN4	SOX4	1.067640944	3.22E-15	Transcription factor	BrainSpLMD|6659;Eurexp|euxassay_019583|cervical, cervico-thoracic, dorsal grey horn, dorsal root ganglion, incisor, lung, mantle layer, mesenchyme, metanephros, molar, neural retina, oesophagus, phalanx, submandibular gland primordium, testis, trachea, valve, vibrissa;BrainSpMouseDev|20439	OMIM|184430
nIN4	TMEM123	1.983084197	2.72E-12	Cell surface receptor	BrainSpLMD|114908	OMIM|606356
nIN4	TOX3	2.397319707	1.33E-11	Unclassified	Eurexp|euxassay_006138|cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, pancreas, paraxial mesenchyme, penis, retina, stomach, stroma, tongue, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|89252	OMIM|611416
nIN4	SOX11	0.681777046	1.64E-11	Transcription factor	BrainSpLMD|6664;BrainSpMouseDev|20428	OMIM|600898;HPO|6664|Abnormal facial shape, Abnormality of cardiovascular system morphology, Abnormality of the columella, Abnormality of the dentition, Abnormality of the nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Autosomal dominant inheritance, Clinodactyly, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Everted lower lip vermilion, Feeding difficulties in infancy, Full cheeks, Generalized hirsutism, Global developmental delay, Hearing impairment, Highly arched eyebrow, Hypertrichosis, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Long nose, Low-set ears, Microcephaly, Midface retrusion, Muscular hypotonia, Nystagmus, Open mouth, Posteriorly rotated ears, Recurrent respiratory infections, Scoliosis, Seizures, Short chin, Short distal phalanx of finger, Short nose, Short palpebral fissure, Short philtrum, Short stature, Slow-growing hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick vermilion border, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Wide mouth, Wide nasal bridge
nIN4	RND3	1.738710452	8.10E-11	G protein	BrainSpLMD|390	OMIM|602924
nIN4	MFN1	1.307552822	6.72E-10	GTPase	BrainSpLMD|55669	OMIM|608506
nIN4	FGD3	1.765262079	7.34E-10	Guanine nucleotide exchange factor	BrainSpLMD|89846;Eurexp|euxassay_010184|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vestibulocochlear VIII	OMIM|617554
nIN4	LHX6	1.451543328	1.29E-09	Transcription factor	BrainSpLMD|26468;BrainSpMouseDev|16645	OMIM|608215
nIN4	NRXN3	1.386266469	5.78E-09	Adhesion molecule	BrainSpLMD|9369;Eurexp|euxassay_009777|bladder, collecting ducts, inner ear, mantle layer, marginal layer, neural retina, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|600567
nIN4	DCLK2	1.340505281	2.48E-08	Serine/threonine kinase	BrainSpLMD|166614;Eurexp|euxassay_009796|associated mesenchyme, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nasal cavity, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613166
nIN4	SP9	1.685881094	5.64E-08		BrainSpLMD|100131390;BrainSpMouseDev|120188	
nIN4	RP11.384F7.2	2.035949179	1.19E-07			
nIN4	DLX1	1.57043932	1.24E-07	Transcription factor	BrainSpLMD|1745;Eurexp|euxassay_008426|cochlea, epithelium, footplate, handplate, incisor, inner ear, mantle layer, midgut, naso-lacrimal duct, neural retina, oesophagus, paraxial mesenchyme, retina, skeletal muscle, skeleton, stomach, utricle, vibrissa;BrainSpMouseDev|13169	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600029
nIN4	SOX2.OT	0.63856255	1.24E-07			
nIN4	BEST3	2.343243357	1.51E-07	Integral membrane protein	BrainSpLMD|144453	OMIM|607337
nIN4	DLX2	1.524091035	2.08E-07	Transcription factor	BrainSpLMD|1746;BrainSpMouseDev|13171	SFARI||Autism, 4 - Minimal evidence;OMIM|126255
nIN4	GLCCI1	2.210496355	2.54E-07	Unclassified	BrainSpLMD|113263;Eurexp|euxassay_014439|axial skeleton, nasal septum, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|82074	OMIM|614283
nIN4	TIAM1	2.197437027	2.54E-07	Guanine nucleotide exchange factor	BrainSpLMD|7074;Eurexp|euxassay_006321|epidermis, incisor, molar, naris, olfactory, submandibular gland primordium, thymus primordium, vibrissa;BrainSpMouseDev|21603	OMIM|600687
nIN4	MARCKS	0.545014106	2.59E-07	Cytoskeletal protein	BrainSpLMD|4082	OMIM|177061
nIN4	GAD1	1.241079379	2.68E-07	Enzyme: Decarboxylase	BrainSpLMD|2571;Eurexp|euxassay_005634|cerebral cortex, corpus striatum, hindbrain, incisor, mantle layer, marginal layer, molar, olfactory lobe, oral region, spinal cord, telencephalon;BrainSpMouseDev|14191	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605363;HPO|2571|Autosomal recessive inheritance, Babinski sign, Cerebral palsy, Flexion contracture, Global developmental delay, Heterogeneous, Hyperreflexia, Infantile onset, Intellectual disability, Microcephaly, Scoliosis, Seizures, Spastic diplegia, Spastic tetraplegia
nIN4	DLX6	1.940847427	3.27E-07	Transcription factor	BrainSpLMD|1750;BrainSpMouseDev|13175	SFARI||Autism, 4 - Minimal evidence;OMIM|600030;HPO|1750|Finger syndactyly, Oligodactyly
nIN4	PDZRN4	1.983450706	4.08E-07	Unclassified	BrainSpLMD|29951;Eurexp|euxassay_013149|axial skeleton, basioccipital bone, femur, fibula, humerus, mantle layer, phalanx, rib, scapula, tibia	OMIM|609730
nIN4	ARX	1.818625784	6.79E-07	Transcription factor	BrainSpLMD|170302;Eurexp|euxassay_018148|floor plate, floorplate, mantle layer, mesenchyme, ovary, pancreas, paramesonephric duct, skeletal muscle, tarsus, ventricle, ventricular layer;BrainSpMouseDev|11665	SFARI||Autism, No category;OMIM|300382;HPO|170302|Abnormal hair pattern, Abnormality of skin morphology, Abnormality of the hip bone, Agenesis of corpus callosum, Ambiguous genitalia, Broad alveolar ridges, Choreoathetosis, Coarse facial features, Cryptorchidism, Death in infancy, Decreased testicular size, Delayed speech and language development, Developmental regression, Diarrhea, Duane anomaly, Dysarthria, Dysphagia, Dyspnea, Dystonia, EEG abnormality, Epileptic encephalopathy, Feeding difficulties in infancy, Flexion contracture, Focal dystonia, Generalized hirsutism, Generalized hypotonia, Generalized myoclonic seizures, Gliosis, Global developmental delay, Hemiplegia, High forehead, High palate, Hirsutism, Hyperconvex nail, Hyperreflexia, Hypohidrosis, Hypoplasia of penis, Hypospadias, Hypsarrhythmia, Infantile spasms, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Large eyes, Limb dystonia, Limb joint contracture, Lissencephaly, Long philtrum, Long upper lip, Low anterior hairline, Low-set ears, Lower limb spasticity, Malabsorption, Microcephaly, Micrognathia, Micropenis, Muscle stiffness, Muscular hypotonia, Muscular hypotonia of the trunk, Myoclonus, Neonatal hypotonia, Nystagmus, Optic atrophy, Overlapping toe, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Prominent supraorbital ridges, Protruding ear, Renal dysplasia, Rigidity, Scoliosis, Seizures, Severe global developmental delay, Short stature, Spastic tetraplegia, Spasticity, Specific learning disability, Status epilepticus, Strabismus, Synophrys, Tapered finger, Tetraplegia, Thin upper lip vermilion, Triangular face, Ventriculomegaly, Visual impairment, Wide anterior fontanel, Wide nasal bridge, X-linked inheritance, X-linked recessive inheritance
nIN4	FAM92A1	1.415061074	1.09E-06			
nIN4	TAC3	2.719912088	1.14E-06	Unclassified	BrainSpLMD|6866;BrainSpMouseDev|21095	OMIM|162330;HPO|6866|Abnormality of body height, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Anxiety, Autosomal recessive inheritance, Breast hypoplasia, Cryptorchidism, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Depressivity, Eunuchoid habitus, Female hypogonadism, Gynecomastia, Hypogonadotrophic hypogonadism, Hypoplasia of the ovary, Hypoplasia of the uterus, Impotence, Increased female libido, Male hypogonadism, Micropenis, Non-obstructive azoospermia, Osteopenia, Osteoporosis, Primary amenorrhea, Secondary amenorrhea, Sparse body hair, Wide intermamillary distance
nIN4	H1F0	1.472602203	2.15E-06	DNA binding protein	BrainSpLMD|3005;Eurexp|euxassay_006503|embryo	OMIM|142708
nIN4	TMEM41B	0.942713886	3.51E-06	Integral membrane protein		
nIN4	JUND	0.886119018	4.50E-06	Transcription factor	BrainSpLMD|3727;BrainSpMouseDev|16251	OMIM|165162
nIN4	SOX1	1.281197255	4.61E-06	Transcription factor	BrainSpLMD|6656;Eurexp|euxassay_019565|ventral grey horn, ventricular layer	OMIM|602148
nIN4	RP11.588P7.1	2.234912743	7.84E-06			
nIN4	ZSWIM5	2.105535023	8.06E-06	Unclassified		SFARI||Autism, 6 - Evidence does not support role
nIN4	PCDH17	1.869986615	1.41E-05	Adhesion molecule	BrainSpLMD|27253	OMIM|611760
nIN4	RP11.110G21.2	1.157991492	1.53E-05			
nIN4	DDX46	0.432465697	1.55E-05	RNA helicase	BrainSpLMD|9879	
nIN4	APLP2	0.646278542	1.57E-05	Integral membrane protein	BrainSpLMD|334;Eurexp|euxassay_004667|axial muscle, fundus region, submandibular gland primordium, urethra, ventral grey horn, vibrissa	OMIM|104776
nIN4	TMSB4X	0.779664882	1.58E-05	Cytoskeletal associated protein		OMIM|300159
nIN4	DACH2	2.340687088	1.59E-05	Transcription factor;Cell cycle control protein	BrainSpLMD|117154;Eurexp|euxassay_009795|basal columns, bladder, ear, mantle layer, marginal layer, medullary stroma, renal/urinary system, tegmentum, urachus;BrainSpMouseDev|60489	OMIM|300608
nIN4	EPHB2	0.267655861	2.21E-05	Receptor tyrosine kinase	BrainSpLMD|2048;Eurexp|euxassay_018956|mandible, marginal layer, mesenchyme, rib, ventricular layer;BrainSpMouseDev|13622	SFARI||Autism, No category;OMIM|600997
nIN4	TMEM2	1.435334587	2.84E-05	Integral membrane protein	BrainSpLMD|23670	OMIM|605835
nIN4	HNRNPA1	0.625880575	2.86E-05	RNA binding protein	BrainSpLMD|3178	OMIM|164017;HPO|3178|Abnormality of the abdominal musculature, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dyspnea, Elevated alkaline phosphatase, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Limb-girdle muscular dystrophy, Mildly elevated creatine phosphokinase, Muscle cramps, Muscle fiber inclusion bodies, Muscular dystrophy, Myopathy, Neurodegeneration, Pain, Paralysis, Proximal muscle weakness, Respiratory failure, Rimmed vacuoles, Skeletal muscle atrophy, Spasticity, Xerostomia
nIN4	TMSB4XP1	0.701249341	3.04E-05	-	BrainSpLMD|7115	
nIN4	PRRC2C	0.405317603	3.11E-05	Unclassified	BrainSpLMD|23215	OMIM|617373
nIN4	EFNA5	1.447599023	3.12E-05	Ligand	BrainSpLMD|1946;BrainSpMouseDev|13418	OMIM|601535
nIN4	DLX5	1.289789979	3.13E-05	Transcription regulatory protein	BrainSpLMD|1749;BrainSpMouseDev|13174	OMIM|600028;HPO|1749|Autosomal recessive inheritance, Finger syndactyly, Oligodactyly, Sensorineural hearing impairment, Split foot, Split hand
nIN4	FTL	0.431397961	3.63E-05	Storage protein	BrainSpLMD|2512	OMIM|134790;HPO|2512|Abnormality of metabolism/homeostasis, Anarthria, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Blepharospasm, Bradykinesia, Cataract, Cavitation of the basal ganglia, Chorea, Choreoathetosis, Congenital nuclear cataract, Decreased serum ferritin, Dementia, Disinhibition, Dysarthria, Dysphagia, Dysphonia, Dystonia, Emotional lability, Gait disturbance, Hyperreflexia, Hypomimic face, Increased serum ferritin, Laryngeal dystonia, Mutism, Neurodegeneration, Optic atrophy, Orofacial dyskinesia, Parkinsonism, Phenotypic variability, Progressive, Retinal degeneration, Rigidity, Spastic diplegia, Spasticity, Tremor, Writer's cramp
nIN4	PLXNA4	1.249333136	3.67E-05	Unclassified	BrainSpLMD|91584;Eurexp|euxassay_009720|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X;BrainSpMouseDev|89119	SFARI||Autism, 3 - Suggestive evidence;OMIM|604280
nIN4	TMSB4XP8	0.679840846	3.71E-05	Cytoskeletal associated protein		
nIN4	FAM76A	0.36298893	0.000105457	Unclassified	BrainSpLMD|199870;Eurexp|euxassay_006532|embryo	
nIN4	RPS11	0.57562585	0.000125601	Ribosomal subunit	BrainSpLMD|6205	OMIM|180471
nIN4	CEP78	0.656757528	0.00013659	Unclassified		OMIM|617110;HPO|84131|Abnormal electroretinogram, Abnormality of cochlea, Astigmatism, Ataxia, Autosomal recessive inheritance, Cataract, Hemianopia, High-grade hypermetropia, Iris hypopigmentation, Macular degeneration, Nyctalopia, Nystagmus, Photophobia, Scotoma, Sensorineural hearing impairment, Vestibular hypofunction, Visual loss
nIN4	SLK	0.47681203	0.000149951	Serine/threonine kinase	BrainSpLMD|9748;Eurexp|euxassay_012162|facial VII, midgut, molar, oesophagus, oral epithelium, rectum, stomach, thymus primordium, thyroid	OMIM|616563
nIN4	HMGN1	0.347932454	0.000151726	Transcription regulatory protein	BrainSpLMD|3150;Eurexp|euxassay_003511|calyces, cochlea, mantle layer, marginal layer, vibrissa;BrainSpMouseDev|15087	SFARI||Autism, 3 - Suggestive evidence;OMIM|163920
nIN4	FAM179B	0.44004406	0.000179934			
nIN4	UBR1	0.381325914	0.000216468	Ubiquitin proteasome system protein	BrainSpLMD|197131	OMIM|605981;HPO|197131|Abnormal hair pattern, Abnormality of the nail, Abnormality of the vagina, Absent lacrimal punctum, Agenesis of permanent teeth, Alopecia, Anal atresia, Anasarca, Anemia, Anteriorly placed anus, Aplasia cutis congenita of scalp, Atrial septal defect, Autosomal recessive inheritance, Cafe-au-lait spot, Calvarial skull defect, Clinodactyly of the 5th finger, Clitoral hypertrophy, Colonic diverticula, Convex nasal ridge, Cryptorchidism, Death in childhood, Delayed eruption of teeth, Delayed skeletal maturation, Diabetes mellitus, Exocrine pancreatic insufficiency, Failure to thrive, Fair hair, Frontal upsweep of hair, Generalized hypotonia, Hydronephrosis, Hypocalcemia, Hypoplasia of the primary teeth, Hypoplastic nipples, Hypoproteinemia, Hypospadias, Hypothyroidism, Increased circulating very-low-density lipoprotein levels, Intellectual disability, Intrauterine growth retardation, Joint laxity, Lacrimation abnormality, Malabsorption, Microcephaly, Microdontia, Micropenis, Midline skin dimples over anterior/posterior fontanelles, Oligodontia, Rectovaginal fistula, Sensorineural hearing impairment, Septate vagina, Short nose, Short stature, Single transverse palmar crease, Situs inversus totalis, Small for gestational age, Sparse scalp hair, Strabismus, Underdeveloped nasal alae, Urethrovaginal fistula, Ventricular septal defect
nIN4	HSPA4	0.821144004	0.000231672	Chaperone	BrainSpLMD|3308	OMIM|601113
nIN4	RCOR3	0.94535996	0.000251943	DNA binding protein	BrainSpLMD|55758	
nIN4	CHD7	0.897877211	0.000255791	DNA binding protein	Eurexp|euxassay_010758|marginal layer, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|608892;HPO|55636|Abnormality of body height, Abnormality of female internal genitalia, Abnormality of lymphocytes, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Alopecia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bifid scrotum, Breast hypoplasia, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Desquamation of skin soon after birth, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysphagia, Edema, Eosinophilia, Erectile abnormalities, Erythroderma, Esophageal atresia, Eunuchoid habitus, External ear malformation, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Female hypogonadism, Fever, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Hepatomegaly, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphopenia, Malar flattening, Male hypogonadism, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Non-obstructive azoospermia, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Pneumonia, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Secondary amenorrhea, Sensorineural hearing impairment, Severe combined immunodeficiency, Sparse body hair, Splenomegaly, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Thickened skin, Tracheoesophageal fistula, Umbilical hernia, Ventricular septal defect, Wide intermamillary distance
nIN4	FBXW7	1.063247808	0.000280425	Ubiquitin proteasome system protein	BrainSpLMD|55294;BrainSpMouseDev|30242	OMIM|606278;COSMIC||colorectal, endometrial, T-ALL
nIN4	ANKRD11	0.908861951	0.000290964	Transcription regulatory protein	BrainSpLMD|29123	SFARI||Autism, 2 - Strong candidate;OMIM|611192;HPO|29123|Anteverted nares, Autism, Autosomal dominant inheritance, Cervical ribs, Clinodactyly, Colpocephaly, Cryptorchidism, Delayed skeletal maturation, Frontal bossing, Global developmental delay, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Intellectual disability, moderate, Long palpebral fissure, Long philtrum, Low anterior hairline, Low posterior hairline, Macrodontia, Macrotia, Microcephaly, Micrognathia, Oligodontia, Optic nerve hypoplasia, Periventricular gray matter heterotopia, Pointed chin, Protruding ear, Radial deviation of finger, Rib fusion, Round face, Seizures, Short stature, Single transverse palmar crease, Smooth philtrum, Syndactyly, Telecanthus, Thick eyebrow, Thoracic kyphosis, Triangular face, Underdeveloped nasal alae, Ventriculomegaly, Vertebral arch anomaly, Vertebral fusion, Wide mouth, Widely-spaced maxillary central incisors
nIN4	MT.TP	0.587978818	0.000309902			
nIN4	OCIAD1	0.844327003	0.000316896	Unclassified	BrainSpLMD|54940	
nIN4	EXOSC6	0.675029099	0.000317612	Ribonuclease	BrainSpLMD|118460;Eurexp|euxassay_013513|submandibular gland primordium	OMIM|606490
nIN4	SF3B2	0.329583376	0.000326486	RNA binding protein	BrainSpLMD|10992	OMIM|605591
nIN4	PLS3	1.455377439	0.000339961	Structural protein	BrainSpLMD|5358	OMIM|300131;HPO|5358|Osteopenia, Osteoporosis, Vertebral compression fractures, X-linked dominant inheritance
nIN4	DENR	0.321798166	0.000380711	Unclassified	BrainSpLMD|8562	SFARI||Autism, 3 - Suggestive evidence;OMIM|604550
nIN4	SEMA6D	0.76316598	0.00038666	Membrane bound ligand	BrainSpLMD|80031;Eurexp|euxassay_010735|dorsal root ganglion, embryo, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|84750	OMIM|609295
nIN4	DLD	0.252964176	0.000446544	Enzyme: Dehydrogenase	BrainSpLMD|1738	OMIM|238331;HPO|1738|Ataxia, Autosomal recessive inheritance, Dystonia, Elevated hepatic transaminases, Elevated plasma branched chain amino acids, Encephalopathy, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hepatic encephalopathy, Hepatomegaly, Hypercoagulability, Hypertrophic cardiomyopathy, Hypoglycemia, Increased serum lactate, Increased urine alpha-ketoglutarate concentration, Lactic acidosis, Lethargy, Metabolic acidosis, Microcephaly, Neurodevelopmental delay, Seizures, Spasticity, Variable expressivity, Vomiting
nIN4	HNRNPH1	0.475264357	0.00045066	Ribonucleoprotein	BrainSpLMD|3187	OMIM|601035
nIN4	NEK1	0.306319705	0.000491837	Serine/threonine kinase	BrainSpLMD|4750;Eurexp|euxassay_014225|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, ventral grey horn	OMIM|604588;HPO|4750|Ambiguous genitalia, Amyotrophic lateral sclerosis, Anxiety, Autosomal recessive inheritance, Cleft palate, Depressivity, Digenic inheritance, Disproportionate shortening of the tibia, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Hamartoma of tongue, Horizontal ribs, Hydrops fetalis, Hypoplasia of the epiglottis, Lateral clavicle hook, Median cleft lip, Muscle cramps, Narrow chest, Neurodegeneration, Pain, Paralysis, Polycystic kidney dysplasia, Polysyndactyly of hallux, Postaxial hand polydactyly, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Pulmonary hypoplasia, Respiratory failure, Short ribs, Skeletal muscle atrophy, Spasticity, Thoracic dysplasia, Xerostomia
nIN4	PTMA	0.326361498	0.000517525	Unclassified	BrainSpLMD|5757	OMIM|188390
nIN4	ACTG1	0.826074152	0.000532748	Structural protein	BrainSpLMD|71	OMIM|102560;HPO|71|Abnormality of the pinna, Aphasia, Autosomal dominant inheritance, Bilateral sensorineural hearing impairment, Cerebral cortical hemiatrophy, Coarse facial features, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Dysphasia, Echolalia, Epicanthus, Euryblepharon, Failure to thrive, Feeding difficulties, Full cheeks, Global developmental delay, Growth delay, Heterochromia iridis, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypertelorism, Intellectual disability, Iris coloboma, Joint stiffness, Large fontanelles, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Low posterior hairline, Macrogyria, Microcephaly, Micrognathia, Mutism, Osteochondrosis, Pachygyria, Pointed chin, Polymicrogyria, Progressive sensorineural hearing impairment, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Seizures, Short columella, Short neck, Skeletal dysplasia, Specific learning disability, Subcortical cerebral atrophy, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Trigonocephaly, Wide mouth, Wide nasal bridge, Wide nose, Young adult onset
nIN4	NFE2L2	1.50659834	0.000639818	Transcription factor	BrainSpLMD|4780;Eurexp|euxassay_018087|larynx, midgut, rectum, stomach, submandibular gland primordium, thyroid, trachea;BrainSpMouseDev|17791	OMIM|600492;COSMIC||NSCLC, HNSCC
nIN4	RPL23A	0.534334221	0.000665296	RNA binding protein		OMIM|602326
nIN4	ELOVL5	0.735502356	0.000668469	Unclassified	BrainSpLMD|60481	OMIM|611805;HPO|60481|Autosomal dominant inheritance, Cerebellar atrophy, Dysarthria, Gait ataxia, Limb ataxia, Nystagmus, Slow progression, Slow saccadic eye movements
nIN4	GAD2	2.124603979	0.000695808	Enzyme: Decarboxylase	BrainSpLMD|2572;Eurexp|euxassay_001769|dorsal grey horn, lateral ventricle, mantle layer;BrainSpMouseDev|14193	OMIM|138275
nIN4	INTS10	0.286889366	0.000706748	Unclassified	BrainSpLMD|55174;Eurexp|euxassay_001760|mantle layer, marginal layer	OMIM|611353
nIN4	WLS	1.565902435	0.000717368	Integral membrane protein	BrainSpLMD|79971	OMIM|611514
nIN4	RPS27	0.47988403	0.000724098	Ribosomal subunit		OMIM|603702;HPO|6232|Abnormality of skin pigmentation, Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Anemia, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Macrocytic anemia, Migraine, Pallor
nIN4	HIPK2	1.382199965	0.000745476	Serine/threonine kinase	BrainSpLMD|28996	OMIM|606868
nIN4	AC018643.4	1.566946543	0.000816967			
nIN4	ANKRD26	0.676428045	0.000839499	Unclassified	BrainSpLMD|22852	OMIM|610855;HPO|22852|Autosomal dominant inheritance, Bruising susceptibility, Thrombocytopenia
nIN4	RPL34P18	0.458651236	0.000845078			
nIN4	SH3BGRL3	0.987079346	0.000895496	Unclassified	BrainSpLMD|83442;Eurexp|euxassay_003517|basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, thymus primordium, trigeminal V, vagus X, ventral grey horn	OMIM|615679
nIN4	RAD52	0.488760669	0.000911573	DNA binding protein;Transcription regulatory protein	BrainSpLMD|5893	OMIM|600392
nIN4	NDUFS1	0.742708753	0.000950461	Enzyme: Oxidoreductase	BrainSpLMD|4719;Eurexp|euxassay_018914|dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, liver, mandible, mantle layer, maxilla, midgut, molar, neural retina, orbito-sphenoid, pancreas, stomach, submandibular gland primordium, testis, thymus primordium, trigeminal V, ventral grey horn, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|157655;HPO|4719|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
nIN4	2-Sep	0.364655081	0.00101362			
nIN4	AC026271.5	1.125763671	0.001101882			
nIN4	GFPT1	1.032150992	0.001118767	Enzyme: Aminotransferase	BrainSpLMD|2673	OMIM|138292;HPO|2673|Abnormality of the immune system, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Decreased fetal movement, Decreased muscle mass, Decreased size of nerve terminals, Dental malocclusion, Dysarthria, Dysphagia, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, Easy fatigability, Facial palsy, Fatigable weakness, Feeding difficulties, Generalized hypotonia, Gowers sign, High palate, Infantile onset, Juvenile onset, Long face, Mandibular prognathia, Mildly elevated creatine phosphokinase, Motor delay, Muscle cramps, Muscular hypotonia, Neck muscle weakness, Nonprogressive, Ophthalmoparesis, Proximal amyotrophy, Ptosis, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Strabismus, Type 2 muscle fiber atrophy, Variable expressivity, Waddling gait, Weak cry
nIN4	PCM1	0.341684788	0.001139575	Cytoskeletal associated protein	BrainSpLMD|5108	OMIM|600299;COSMIC||papillary thyroid, CML, MPN;HPO|5108|Autosomal dominant inheritance, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma
nIN4	NUP43	1.420873478	0.001184453	Transport/cargo protein	BrainSpLMD|348995;Eurexp|euxassay_007275|bladder, cortex, incisor, left lung, liver, mesenchyme, midgut, molar, olfactory, pectoral girdle and thoracic body wall, right lung, thymus primordium	OMIM|608141
nIN4	CDK5RAP3	0.810404192	0.001213246	Cell cycle control protein	BrainSpLMD|80279	OMIM|608202
nIN4	CCT6P1	0.424629896	0.00135615			
nIN4	CTD.2192J16.15	0.622331085	0.001376375			
nIN4	OAZ2	1.955943031	0.001536605	Regulatory/other subunit	BrainSpLMD|4947	OMIM|604152
nIN4	HLTF	0.303381289	0.001541055	DNA binding protein	BrainSpLMD|6596	OMIM|603257
nIN4	SLX4IP	0.309463911	0.001648324	Unclassified		OMIM|615958
nIN4	RPL4P5	0.420937672	0.001725024			
nIN4	PHACTR1	0.501636919	0.00183067	Enzyme regulator		OMIM|608723
nIN4	CTC.575D19.1	0.822911915	0.001920537			
nIN4	SRP9	0.526086556	0.002023796	RNA binding protein		OMIM|600707
nIN4	ASAP1	1.063153952	0.002076699	GTPase activating protein	BrainSpLMD|50807	OMIM|605953
nIN4	BIRC2	1.701151785	0.002131615	Adapter molecule	BrainSpLMD|329;Eurexp|euxassay_013954|thymus primordium, ventricular layer	OMIM|601712
nIN4	MOB3B	1.404007586	0.002318108	Unclassified	BrainSpLMD|79817;Eurexp|euxassay_011555|incisor, molar	OMIM|617652
nIN4	DCUN1D1	0.286872737	0.002344325	Unclassified	BrainSpLMD|54165;BrainSpMouseDev|77609	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605905
nIN4	C7orf55.LUC7L2	1.106154695	0.002505137			
nIN4	COPS8	0.948252614	0.002527701	Regulatory/other subunit	BrainSpLMD|10920	OMIM|616011
nIN4	MYO1B	1.955435116	0.002578022	Motor protein	BrainSpLMD|4430;Eurexp|euxassay_006192|mantle layer, olfactory, ventricular layer	OMIM|606537
nIN4	AHCTF1	0.634515248	0.002644266	Transcription factor	BrainSpLMD|25909;BrainSpMouseDev|86466	OMIM|610853
nIN4	FRS2	0.703929944	0.002740578	Adapter molecule	BrainSpLMD|10818	OMIM|607743
nIN4	RP11.572P18.1	0.423634154	0.002758093			
nIN4	AC016708.2	0.709755701	0.002813177			
nIN4	MCMBP	0.395299923	0.002918671	Unclassified	BrainSpLMD|79892	OMIM|610909
nIN4	CWC15	0.565402948	0.003126644	Unclassified	BrainSpLMD|51503	
nIN4	CPEB4	0.275362762	0.003131811	RNA binding protein	BrainSpLMD|80315	OMIM|610607
nIN4	TMEM245	0.856847681	0.003286562	Integral membrane protein	BrainSpLMD|23731;Eurexp|euxassay_000141|dorsal root ganglion, trigeminal V, vagus X, vestibulocochlear VIII	
nIN4	EXOC1	1.417664646	0.003328387	Transport/cargo protein	BrainSpLMD|55763	OMIM|607879
nIN4	MRPL39	0.423204835	0.003333799	Ribosomal subunit	BrainSpLMD|54148	OMIM|611845
nIN4	CCDC23	0.32662168	0.003387326			
nIN4	CNP	0.414931129	0.003410255	Enzyme: Phosphodiesterase	BrainSpLMD|1267;BrainSpMouseDev|12582	OMIM|123830
nIN4	RPL10	0.396324377	0.003441564	Ribosomal subunit	BrainSpLMD|6134;Eurexp|euxassay_015677|embryo	SFARI||Autism, 4 - Minimal evidence;OMIM|312173;COSMIC||T-ALL;HPO|6134|Abnormal facial shape, Ankle contracture, Branchial cyst, Camptodactyly, Cryptorchidism, Dental crowding, Finger syndactyly, Gastroesophageal reflux, Hypospadias, Knee flexion contracture, Laryngomalacia, Mandibular prognathia, Microcephaly, Muscular hypotonia, Protruding ear, Pulmonary artery stenosis, Recurrent infections, Sacral lipoma, Seizures, Self-injurious behavior, Sensorineural hearing impairment, Severe postnatal growth retardation, Single transverse palmar crease, Tapered finger, Thin upper lip vermilion
nIN4	VPS35	0.714457536	0.003488554	Transport/cargo protein	BrainSpLMD|55737	OMIM|601501
nIN4	SUV420H1	1.131125163	0.003494106			
nIN4	BBX	0.727294054	0.003577505	Transcription factor	BrainSpLMD|56987;Eurexp|euxassay_001866|cortex, mantle layer, pituitary, testis, ventricular layer;BrainSpMouseDev|46349	
nIN4	YWHAG	0.372270738	0.003627836	Adapter molecule	BrainSpLMD|7532	OMIM|605356
nIN4	NDFIP1	0.567522173	0.003701146	Adapter molecule	BrainSpLMD|80762;Eurexp|euxassay_010361|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, maxilla, midgut, neural retina, rib, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612050
nIN4	DIMT1	0.634062633	0.003720893	Unclassified	BrainSpLMD|27292;Eurexp|euxassay_001602|ventricular layer	OMIM|612499
nIN4	MARK3	0.590426535	0.003793332	Serine/threonine kinase	BrainSpLMD|4140	OMIM|602678
nIN4	PSMD7	0.81076587	0.003930578	Ubiquitin proteasome system protein	BrainSpLMD|5713	OMIM|157970
nIN4	DCX	0.664981635	0.00402845	Cytoskeletal associated protein	BrainSpLMD|1641;Eurexp|euxassay_018537|brain, capsule, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|12973	SFARI||Autism, No category;OMIM|300121;HPO|1641|Agenesis of corpus callosum, Ataxia, Death in infancy, Dysarthria, Feeding difficulties, Hypertonia, Incomplete penetrance, Infantile onset, Intellectual disability, Intellectual disability, severe, Lissencephaly, Micropenis, Motor delay, Muscular hypotonia, Muscular hypotonia of the trunk, Nystagmus, Pachygyria, Postnatal growth retardation, Seizures, X-linked inheritance
nIN4	KIAA0922	1.176205204	0.004223363			
nIN4	KALRN	0.378364957	0.004243703	Guanine nucleotide exchange factor	BrainSpLMD|8997	OMIM|604605
nIN4	PGM3	1.034760162	0.004277728	Enzyme: Mutase	BrainSpLMD|5238	OMIM|172100;HPO|5238|Allergic rhinitis, Asthma, Ataxia, Autosomal recessive inheritance, Bronchiectasis, Cognitive impairment, Conductive hearing impairment, Cortical myoclonus, Dysarthria, Eczema, Generalized hypotonia, Global developmental delay, High palate, Immunodeficiency, Intellectual disability, Lymphopenia, Neutropenia, Recurrent respiratory infections, Scoliosis, Sensorineural hearing impairment, Sensory impairment, Vasculitis in the skin
nIN4	SMIM7	0.338344287	0.004595017	Unclassified	BrainSpLMD|79086	
nIN4	CAMTA1	0.339116808	0.004778292	Unclassified	BrainSpLMD|23261;BrainSpMouseDev|64242	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611501;COSMIC||epithelioid haemangioendothelioma;HPO|23261|Anteverted nares, Autosomal dominant inheritance, Bulbous nose, Cerebral cortical atrophy, Delayed speech and language development, Dysarthria, Dysmetria, Global developmental delay, Intellectual disability, mild, Long face, Long philtrum, Neonatal hypotonia, Pointed chin, Thick lower lip vermilion, Unsteady gait
nIN4	ACTB	0.316361684	0.004819428	Cytoskeletal protein	BrainSpLMD|60;BrainSpMouseDev|11250	OMIM|102630;HPO|60|Abnormality of metabolism/homeostasis, Achalasia, Agenesis of corpus callosum, Anteverted nares, Aortic valve stenosis, Aphasia, Autosomal dominant inheritance, Autosomal recessive inheritance, Bicuspid aortic valve, Blindness, Cataract, Cerebral cortical hemiatrophy, Chorioretinal coloboma, Cleft palate, Cleft upper lip, Coarse facial features, Cryptorchidism, Death in early adulthood, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Dysphagia, Dysphasia, Echolalia, Epicanthus, Euryblepharon, Externally rotated hips, Failure to thrive, Feeding difficulties, Full cheeks, Generalized dystonia, Generalized hypotonia, Global developmental delay, Growth delay, Heterochromia iridis, High forehead, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplastic scapulae, Immunodeficiency, Intellectual disability, Intellectual disability, mild, Iris coloboma, Joint stiffness, Kyphoscoliosis, Kyphosis, Large fontanelles, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Macroglossia, Macrogyria, Mental deterioration, Microcephaly, Micrognathia, Micromelia, Micropenis, Mild global developmental delay, Mutism, Oral cleft, Osteochondrosis, Overfolded helix, Pachygyria, Patent ductus arteriosus, Pointed chin, Polymicrogyria, Postnatal growth retardation, Prominent epicanthal folds, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Scoliosis, Seizures, Sensorineural hearing impairment, Short columella, Short neck, Short nose, Short stature, Skeletal dysplasia, Small for gestational age, Specific learning disability, Subcortical cerebral atrophy, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Trigonocephaly, Wide mouth, Wide nasal bridge, Wide nose
nIN4	RPS23	0.556772254	0.00492877	Ribosomal subunit	BrainSpLMD|6228	OMIM|603683;HPO|6228|Abnormality of the pinna, Autistic behavior, Autosomal dominant inheritance, Cleft palate, Conductive hearing impairment, Depressed nasal bridge, Epicanthus, Flat occiput, Generalized hypotonia, High palate, Highly arched eyebrow, Increased number of teeth, Intellectual disability, mild, Long eyelashes, Low-set ears, Microcephaly, Motor delay, Short stature, Single transverse palmar crease, Thick eyebrow
nIN4	PCNP	0.704336986	0.005019092	Ubiquitin proteasome system protein	BrainSpLMD|57092	OMIM|615210
nIN4	MYL6B	0.441458085	0.005191215	Structural protein	BrainSpLMD|140465;Eurexp|euxassay_005932|brain, diaphragm, mesenchyme, paraxial mesenchyme, skeletal muscle, spinal cord, vertebral axis muscle system	OMIM|609930
nIN4	SLC25A3	0.764077191	0.005281874	Transport/cargo protein	BrainSpLMD|5250	OMIM|600370;HPO|5250|Abnormal mitochondrial shape, Abnormality of the mitochondrion, Autosomal recessive inheritance, Cyanosis, Failure to thrive, Hypertrophic cardiomyopathy, Increased serum lactate, Lactic acidosis, Low-output congestive heart failure, Metabolic acidosis, Muscular hypotonia, Myopathy, Respiratory insufficiency
nIN4	WAC	0.600628317	0.005368424	Unclassified	BrainSpLMD|51322	SFARI||Autism, 2 - Strong candidate;OMIM|615049;HPO|51322|Abnormality of the pinna, Aggressive behavior, Agitation, Anxiety, Astigmatism, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Brachycephaly, Broad forehead, Bulbous nose, Coarse facial features, Deeply set eye, Delayed speech and language development, Depressed nasal bridge, Downturned corners of mouth, Full cheeks, Generalized hypotonia, Hearing impairment, Hirsutism, Hypertelorism, Infantile onset, Inverted nipples, Midface retrusion, Myopia, Posteriorly rotated ears, Prominent forehead, Short neck, Strabismus, Synophrys, Thick eyebrow, Thin upper lip vermilion
nIN4	LCOR	0.654329726	0.005528252	Transcription regulatory protein	BrainSpLMD|84458;Eurexp|euxassay_014562|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|84411	OMIM|607698
nIN4	ZNF148	0.67462682	0.005610784	Transcription factor	BrainSpLMD|7707	OMIM|601897;HPO|7707|Abnormality of the pinna, Agenesis of corpus callosum, Autosomal dominant inheritance, Coarctation of aorta, Coarse facial features, Downslanted palpebral fissures, Epicanthus, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, Hypermetropia, Hypoplasia of the corpus callosum, Intellectual disability, Low hanging columella, Microcephaly, Mitral stenosis, Patent ductus arteriosus, Pes planus, Phenotypic variability, Pointed chin, Poor speech, Renal cyst, Renal dysplasia, Respiratory insufficiency, Short palpebral fissure, Short stature, Smooth philtrum, Talipes equinovarus, Telecanthus, Triangular face, Upslanted palpebral fissure, Ventriculomegaly, Wide mouth
nIN4	CORO1C	1.153401613	0.005906069	Cytoskeletal associated protein	BrainSpLMD|23603	OMIM|605269
nIN4	TMTC3	0.664243785	0.005993096	Unclassified	BrainSpLMD|160418	OMIM|617218;HPO|160418|Autosomal recessive inheritance, Global developmental delay, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Infantile onset, Intellectual disability, Muscular hypotonia of the trunk, Optic atrophy, Polymicrogyria, Seizures, Ventriculomegaly
nIN4	CFDP1	0.398187719	0.006084764	Unclassified	BrainSpLMD|10428	OMIM|608108
nIN4	ZBTB44	0.360356786	0.006264466	DNA binding protein	BrainSpLMD|29068	
nIN4	KIFAP3	0.728391522	0.006348732	Transport/cargo protein	BrainSpLMD|22920;Eurexp|euxassay_012381|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, mesenchyme, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601836
nIN4	SP3	0.958127556	0.006527864	Transcription factor	BrainSpLMD|6670;BrainSpMouseDev|20449	OMIM|601804
nIN4	DDHD1	0.468940048	0.006557205	Enzyme: Phospholipase	BrainSpLMD|80821;Eurexp|euxassay_003133|cervical, cervico-thoracic, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, incisor, lobe, marginal layer, mesenchyme, molar, naris, oesophagus, olfactory, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|614603;HPO|80821|Autosomal recessive inheritance, Babinski sign, Difficulty walking, Distal sensory impairment, Hyperreflexia, Juvenile onset, Lower limb muscle weakness, Lower limb spasticity, Pes cavus, Scoliosis, Slow progression, Spastic paraplegia
nIN4	FBXO21	0.643789198	0.006591226	Ubiquitin proteasome system protein	BrainSpLMD|23014;Eurexp|euxassay_006858|cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|609095
nIN4	PPFIA1	0.386168882	0.006693403	Anchor protein	BrainSpLMD|8500	SFARI||Autism, No category;OMIM|611054
nIN4	RAB13	1.508391928	0.006715445	GTPase	Eurexp|euxassay_003494|meninges, metencephalon, olfactory lobe	OMIM|602672
nIN4	SLC29A4	0.373027651	0.006718087	Membrane transport protein	BrainSpLMD|222962;Eurexp|euxassay_015715|choroid plexus;BrainSpMouseDev|89066	SFARI||Autism, No category;OMIM|609149
nIN4	WDR48	0.958590249	0.00685293	Unclassified		OMIM|612167
nIN4	PBX1	0.572042037	0.007044128	Transcription regulatory protein	BrainSpLMD|5087;BrainSpMouseDev|18280	OMIM|176310;COSMIC||pre B-ALL, myoepithelioma
nIN4	GMFB	0.254833688	0.007094067	Growth factor	BrainSpLMD|2764	OMIM|601713
nIN4	MAGI2	0.282396659	0.007150346	Unclassified	BrainSpLMD|9863	OMIM|606382
nIN4	POMP	0.298920291	0.007189829	Unclassified	BrainSpLMD|51371;Eurexp|euxassay_002063|thymus primordium	OMIM|613386;HPO|51371|Amniotic constriction ring, Autosomal recessive inheritance, Congenital nonbullous ichthyosiform erythroderma, Honeycomb palmoplantar keratoderma, Hyperconvex nail, Ichthyosis, Linear arrays of macular hyperkeratoses in flexural areas, Nail dystrophy, Palmoplantar keratoderma, Parakeratosis
nIN4	RAB8A	0.992429935	0.007320888	GTPase	BrainSpLMD|4218	OMIM|165040
nIN4	NELL2	0.338056352	0.007757678	Calcium binding protein	BrainSpLMD|4753;Eurexp|euxassay_010538|axial skeleton, brachial plexus, dorsal root ganglion, footplate, handplate, head mesenchyme, incisor, mantle layer, marginal layer, mesenchyme, mesentery, molar, neural retina, olfactory, paraxial mesenchyme, perioptic mesenchyme, peritoneal cavity, rib, ventricular layer	OMIM|602320
nIN4	RP1.159A19.3	0.28916642	0.007868018			
nIN4	CANX	0.343838151	0.0078717	Chaperone	BrainSpLMD|821	OMIM|114217
nIN4	PFN1	0.282927248	0.007900822	Cytoskeletal associated protein	BrainSpLMD|5216	OMIM|176610;HPO|5216|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dysarthria, Dysphagia, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Muscle weakness, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
nIN4	RPL35AP21	0.378823981	0.008082496			
nIN4	TRAM1	1.044782137	0.008296393	Membrane transport protein	BrainSpLMD|23471	OMIM|605190
nIN4	FRG1	1.191181734	0.008303472	Unclassified	BrainSpLMD|2483	OMIM|601278;HPO|2483|Abdominal wall muscle weakness, Abnormality of the eyelashes, Abnormality of the retinal vasculature, Autosomal dominant inheritance, Beevor's sign, Calf muscle hypertrophy, Childhood onset, EMG abnormality, Elevated serum creatine phosphokinase, External ophthalmoplegia, Exudative retinal detachment, Facial palsy, Hyperlordosis, Intellectual disability, Mask-like facies, Palpebral edema, Restrictive deficit on pulmonary function testing, Retinal telangiectasia, Scapular winging, Scapulohumeral muscular dystrophy, Seizures, Sensorineural hearing impairment, Shoulder girdle muscle atrophy, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Slow progression, Tongue atrophy
nIN4	NCOR1	0.401929113	0.008318253	Transcription factor	BrainSpLMD|9611;BrainSpMouseDev|19948	SFARI||Autism, 4 - Minimal evidence;OMIM|600849;COSMIC||breast, Ulnar-mammary syndrome
nIN4	CCNH	0.268800049	0.008372602	Transcription regulatory protein	BrainSpLMD|902;Eurexp|euxassay_000265|cranium	OMIM|601953
nIN4	EPHA4	1.305562959	0.008553583	Receptor tyrosine kinase	BrainSpLMD|2043;BrainSpMouseDev|13616	OMIM|602188;HPO|2043|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
nIN4	AKAP12	0.306292157	0.009034094	Anchor protein	BrainSpLMD|9590	OMIM|604698
nIN4	AC022431.1	0.453184248	0.009308892			
nIN4	CFL1	0.289859735	0.009316339	Cytoskeletal associated protein	BrainSpLMD|1072	OMIM|601442
nIN4	TNRC6A	0.731228142	0.009457642	Transcription regulatory protein	BrainSpLMD|27327	OMIM|610739
nIN4	MED13	0.721329716	0.009497322	Transcription regulatory protein	BrainSpLMD|9969;Eurexp|euxassay_014011|submandibular gland primordium	SFARI||Autism, 2 - Strong candidate;OMIM|603808
nIN4	KIAA1715	1.323234182	0.009576819			
nIN4	ESCO1	0.671706083	0.009790762	Enzyme: Transferase	BrainSpLMD|114799	OMIM|609674
nIN4	RPS3	0.275716815	0.009806247	Ribosomal subunit		OMIM|600454
nIN4	SNTG1	0.599075418	0.009885443	Adapter molecule	BrainSpLMD|54212	OMIM|608714
nIN4	MEG3	1.069633695	0.009985618			OMIM|605636
nIN4	FEZ1	0.849138882	0.009996558	Unclassified	BrainSpLMD|9638;BrainSpMouseDev|87970	OMIM|604825
nIN5	NKX2.1	2.48563636	0			
nIN5	LHX6	2.410270144	0	Transcription factor	BrainSpLMD|26468;BrainSpMouseDev|16645	OMIM|608215
nIN5	PLXNA4	2.248050174	0	Unclassified	BrainSpLMD|91584;Eurexp|euxassay_009720|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X;BrainSpMouseDev|89119	SFARI||Autism, 3 - Suggestive evidence;OMIM|604280
nIN5	PLS3	1.913308128	0	Structural protein	BrainSpLMD|5358	OMIM|300131;HPO|5358|Osteopenia, Osteoporosis, Vertebral compression fractures, X-linked dominant inheritance
nIN5	SOX6	1.660790402	0	Transcription factor	BrainSpLMD|55553;BrainSpMouseDev|20441	OMIM|607257
nIN5	PFN2	1.578578839	0	Structural protein	BrainSpLMD|5217;Eurexp|euxassay_002518|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|176590
nIN5	DLX6.AS1	1.4663049	0			
nIN5	NRXN3	1.398176479	0	Adhesion molecule	BrainSpLMD|9369;Eurexp|euxassay_009777|bladder, collecting ducts, inner ear, mantle layer, marginal layer, neural retina, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|600567
nIN5	DLX2	1.105081369	0	Transcription factor	BrainSpLMD|1746;BrainSpMouseDev|13171	SFARI||Autism, 4 - Minimal evidence;OMIM|126255
nIN5	SOX4	0.961194761	0	Transcription factor	BrainSpLMD|6659;Eurexp|euxassay_019583|cervical, cervico-thoracic, dorsal grey horn, dorsal root ganglion, incisor, lung, mantle layer, mesenchyme, metanephros, molar, neural retina, oesophagus, phalanx, submandibular gland primordium, testis, trachea, valve, vibrissa;BrainSpMouseDev|20439	OMIM|184430
nIN5	DCX	0.868770289	0	Cytoskeletal associated protein	BrainSpLMD|1641;Eurexp|euxassay_018537|brain, capsule, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|12973	SFARI||Autism, No category;OMIM|300121;HPO|1641|Agenesis of corpus callosum, Ataxia, Death in infancy, Dysarthria, Feeding difficulties, Hypertonia, Incomplete penetrance, Infantile onset, Intellectual disability, Intellectual disability, severe, Lissencephaly, Micropenis, Motor delay, Muscular hypotonia, Muscular hypotonia of the trunk, Nystagmus, Pachygyria, Postnatal growth retardation, Seizures, X-linked inheritance
nIN5	SOX11	0.751295799	0	Transcription factor	BrainSpLMD|6664;BrainSpMouseDev|20428	OMIM|600898;HPO|6664|Abnormal facial shape, Abnormality of cardiovascular system morphology, Abnormality of the columella, Abnormality of the dentition, Abnormality of the nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Autosomal dominant inheritance, Clinodactyly, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Everted lower lip vermilion, Feeding difficulties in infancy, Full cheeks, Generalized hirsutism, Global developmental delay, Hearing impairment, Highly arched eyebrow, Hypertrichosis, Hypoplastic fifth fingernail, Hypoplastic fifth toenail, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Long nose, Low-set ears, Microcephaly, Midface retrusion, Muscular hypotonia, Nystagmus, Open mouth, Posteriorly rotated ears, Recurrent respiratory infections, Scoliosis, Seizures, Short chin, Short distal phalanx of finger, Short nose, Short palpebral fissure, Short philtrum, Short stature, Slow-growing hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick vermilion border, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Wide mouth, Wide nasal bridge
nIN5	BEST3	2.580355493	1.11E-16	Integral membrane protein	BrainSpLMD|144453	OMIM|607337
nIN5	TUBA1A	0.591885958	2.22E-16	Cytoskeletal protein	BrainSpLMD|7846	OMIM|602529;HPO|7846|Agenesis of corpus callosum, Ataxia, Autosomal dominant inheritance, Cerebellar vermis hypoplasia, Generalized hypotonia, Heterotopia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, severe, Lissencephaly, Microcephaly, Motor delay, Pachygyria, Polymicrogyria, Seizures, Spastic tetraplegia, Ventriculomegaly
nIN5	EFNA5	1.580523335	9.99E-16	Ligand	BrainSpLMD|1946;BrainSpMouseDev|13418	OMIM|601535
nIN5	DLX5	1.629888152	1.89E-15	Transcription regulatory protein	BrainSpLMD|1749;BrainSpMouseDev|13174	OMIM|600028;HPO|1749|Autosomal recessive inheritance, Finger syndactyly, Oligodactyly, Sensorineural hearing impairment, Split foot, Split hand
nIN5	GAD1	1.698811748	2.33E-15	Enzyme: Decarboxylase	BrainSpLMD|2571;Eurexp|euxassay_005634|cerebral cortex, corpus striatum, hindbrain, incisor, mantle layer, marginal layer, molar, olfactory lobe, oral region, spinal cord, telencephalon;BrainSpMouseDev|14191	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605363;HPO|2571|Autosomal recessive inheritance, Babinski sign, Cerebral palsy, Flexion contracture, Global developmental delay, Heterogeneous, Hyperreflexia, Infantile onset, Intellectual disability, Microcephaly, Scoliosis, Seizures, Spastic diplegia, Spastic tetraplegia
nIN5	ACTG1	0.736899205	1.03E-14	Structural protein	BrainSpLMD|71	OMIM|102560;HPO|71|Abnormality of the pinna, Aphasia, Autosomal dominant inheritance, Bilateral sensorineural hearing impairment, Cerebral cortical hemiatrophy, Coarse facial features, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Dysphasia, Echolalia, Epicanthus, Euryblepharon, Failure to thrive, Feeding difficulties, Full cheeks, Global developmental delay, Growth delay, Heterochromia iridis, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypertelorism, Intellectual disability, Iris coloboma, Joint stiffness, Large fontanelles, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Low posterior hairline, Macrogyria, Microcephaly, Micrognathia, Mutism, Osteochondrosis, Pachygyria, Pointed chin, Polymicrogyria, Progressive sensorineural hearing impairment, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Seizures, Short columella, Short neck, Skeletal dysplasia, Specific learning disability, Subcortical cerebral atrophy, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Trigonocephaly, Wide mouth, Wide nasal bridge, Wide nose, Young adult onset
nIN5	ZNF536	1.825107219	1.32E-14	DNA binding protein	BrainSpLMD|9745;Eurexp|euxassay_015751|adrenal gland, bladder, brain, cochlea, dorsal root ganglion, forelimb, glossopharyngeal IX, hindgut, hindlimb, limb, loop, lung, mandible, medullary stroma, midgut, molar, oesophagus, olfactory, penis, pituitary, rectum, retina, spinal cord, stomach, thyroid, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	
nIN5	AC016708.2	0.837581941	3.46E-14			
nIN5	RBP1	1.782576536	6.35E-14	Transport/cargo protein	BrainSpLMD|5947;Eurexp|euxassay_003315|brain, corpus striatum, forelimb, hindbrain, hindlimb, mantle layer, midgut, olfactory lobe, telencephalon, turbinate bones	OMIM|180260
nIN5	MEG3	1.155283676	3.35E-13			OMIM|605636
nIN5	ZSWIM5	2.459605706	7.62E-13	Unclassified		SFARI||Autism, 6 - Evidence does not support role
nIN5	FOS	0.952872756	1.98E-12	Transcription factor	BrainSpLMD|2353;Eurexp|euxassay_012634|mandible, maxilla;BrainSpMouseDev|14058	OMIM|164810;HPO|2353|Abnormality of skin pigmentation, Acanthosis nigricans, Accelerated skeletal maturation, Bone cyst, Broad foot, Diabetes mellitus, Generalized hirsutism, Growth hormone excess, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hyperinsulinemia, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Insulin resistance, Intellectual disability, Large hands, Lipoatrophy, Mandibular prognathia, Precocious puberty, Prominent supraorbital ridges, Skeletal muscle hypertrophy
nIN5	GAD2	2.071241285	6.50E-12	Enzyme: Decarboxylase	BrainSpLMD|2572;Eurexp|euxassay_001769|dorsal grey horn, lateral ventricle, mantle layer;BrainSpMouseDev|14193	OMIM|138275
nIN5	TIAM1	1.506639156	9.73E-12	Guanine nucleotide exchange factor	BrainSpLMD|7074;Eurexp|euxassay_006321|epidermis, incisor, molar, naris, olfactory, submandibular gland primordium, thymus primordium, vibrissa;BrainSpMouseDev|21603	OMIM|600687
nIN5	TMEM123	1.467367998	1.20E-11	Cell surface receptor	BrainSpLMD|114908	OMIM|606356
nIN5	SACS	1.836687213	2.68E-11	Unclassified	BrainSpLMD|26278;Eurexp|euxassay_014163|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|604490;HPO|26278|Absent Achilles reflex, Autosomal recessive inheritance, Babinski sign, Cerebellar vermis atrophy, Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Dysmetria, Falls, Hammertoe, Hypermyelinated retinal nerve fibers, Hyperreflexia, Impaired smooth pursuit, Impaired vibration sensation in the lower limbs, Infantile onset, Intellectual disability, Loss of Purkinje cells in the cerebellar vermis, Nystagmus, Pes cavus, Progressive gait ataxia, Progressive truncal ataxia, Scanning speech, Spastic ataxia, Spasticity, Swan neck-like deformities of the fingers, Urinary urgency
nIN5	CCDC88A	0.694569314	3.88E-11	Cytoskeletal protein	BrainSpLMD|55704;Eurexp|euxassay_012890|mantle layer, ventral grey horn	OMIM|609736;HPO|55704|Abnormality of the hand, Autosomal recessive inheritance, Cerebellar atrophy, Developmental stagnation, Edema, Epicanthus, Feeding difficulties in infancy, Full cheeks, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile encephalopathy, Intellectual disability, profound, Myoclonus, Narrow forehead, Neuronal loss in central nervous system, Open mouth, Optic atrophy, Pachygyria, Peripheral dysmyelination, Polymicrogyria, Progressive microcephaly, Retrognathia, Seizures, Severe muscular hypotonia, Short nose, Tented upper lip vermilion, Undetectable visual evoked potentials
nIN5	DCLK2	1.667919365	4.83E-11	Serine/threonine kinase	BrainSpLMD|166614;Eurexp|euxassay_009796|associated mesenchyme, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nasal cavity, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613166
nIN5	DLX6	1.382592442	7.29E-11	Transcription factor	BrainSpLMD|1750;BrainSpMouseDev|13175	SFARI||Autism, 4 - Minimal evidence;OMIM|600030;HPO|1750|Finger syndactyly, Oligodactyly
nIN5	PDZRN4	1.434147254	2.84E-10	Unclassified	BrainSpLMD|29951;Eurexp|euxassay_013149|axial skeleton, basioccipital bone, femur, fibula, humerus, mantle layer, phalanx, rib, scapula, tibia	OMIM|609730
nIN5	FAM65B	1.697065578	4.37E-10			
nIN5	RND3	1.068497779	1.26E-09	G protein	BrainSpLMD|390	OMIM|602924
nIN5	CTC.575D19.1	0.839135816	2.03E-09			
nIN5	PAFAH1B2	0.635442518	2.63E-09	Enzyme: Hydrolase	BrainSpLMD|5049;Eurexp|euxassay_003490|embryo	OMIM|602508;COSMIC||MLCLS
nIN5	TCF4	0.571181408	4.31E-09	Transcription factor	BrainSpLMD|6925;BrainSpMouseDev|21174	SFARI||Autism, No category;OMIM|602272;HPO|6925|Abnormal large intestine physiology, Abnormality of the palate, Absent speech, Aggressive behavior, Anteverted nares, Aphasia, Ascites, Astigmatism, Ataxia, Autoimmunity, Autosomal dominant inheritance, Cirrhosis, Clinodactyly, Clubbing, Coarse facial features, Constipation, Cryptorchidism, Cupped ear, Deeply set eye, Dilated superficial abdominal veins, Dysautonomia, Dysphasia, Echolalia, Elevated alkaline phosphatase of hepatic origin, Elevated hepatic transaminases, Encephalopathy, Esophagitis, Failure of eruption of permanent teeth, Failure to thrive, Feeding difficulties, Fever, Full cheeks, Gait ataxia, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Hepatosplenomegaly, Hiatus hernia, Hypoplasia of the corpus callosum, Incoordination, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intermittent hyperventilation, Microcephaly, Micropenis, Misalignment of teeth, Motor delay, Muscular hypotonia, Mutism, Myopia, Narrow foot, Narrow forehead, Open mouth, Palmar telangiectasia, Pes planus, Pes valgus, Portal hypertension, Seizures, Short neck, Short philtrum, Single transverse palmar crease, Sleep apnea, Specific learning disability, Spider hemangioma, Splenomegaly, Strabismus, Tapered finger, Thick vermilion border, Thickened helices, Ulcerative colitis, Upslanted palpebral fissure, Weight loss, Wide mouth, Wide nasal bridge, Widely spaced teeth
nIN5	ANGPT2	2.664367167	4.99E-09	Ligand	BrainSpLMD|285;Eurexp|euxassay_010627|aorta, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5;BrainSpMouseDev|11388	OMIM|601922
nIN5	EGR1	0.709412633	5.08E-09	Transcription factor	BrainSpLMD|1958;Eurexp|euxassay_008911|mesenchyme;BrainSpMouseDev|13431	OMIM|128990
nIN5	MARCKS	0.648613394	8.55E-09	Cytoskeletal protein	BrainSpLMD|4082	OMIM|177061
nIN5	KITLG	2.161753544	8.63E-09	Growth factor	BrainSpLMD|4254;Eurexp|euxassay_003584|dorsal root ganglion, glomeruli, mantle layer, marginal layer, naris, neural retina, olfactory, olfactory cortex, stroma, thymus primordium, trachea, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|17080	OMIM|184745;HPO|4254|Autosomal dominant inheritance, Cafe-au-lait spot, Heterochromia iridis, Hyperkeratosis, Hypopigmented skin patches, Infantile onset, Multiple lentigines, Premature graying of hair, Progressive hyperpigmentation, Sensorineural hearing impairment, White forelock
nIN5	STMN2	0.321276738	1.21E-08	Cytoskeletal associated protein	BrainSpLMD|11075;Eurexp|euxassay_009268|cervical, cervico-thoracic, dorsal root ganglion, facial VII, footplate, forebrain, glossopharyngeal IX, handplate, hindbrain, hindgut, incisor, lip, midbrain, midgut, neural retina, oesophagus, olfactory, spinal cord, stomach, thoracic, thymus primordium, tongue, trigeminal V, vestibulocochlear VIII, vibrissa, visceral, vomeronasal organ	OMIM|600621
nIN5	RP11.588P7.2	1.826916382	2.07E-08			
nIN5	CHD7	1.053637168	2.16E-08	DNA binding protein	Eurexp|euxassay_010758|marginal layer, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|608892;HPO|55636|Abnormality of body height, Abnormality of female internal genitalia, Abnormality of lymphocytes, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Alopecia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bifid scrotum, Breast hypoplasia, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Desquamation of skin soon after birth, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysphagia, Edema, Eosinophilia, Erectile abnormalities, Erythroderma, Esophageal atresia, Eunuchoid habitus, External ear malformation, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Female hypogonadism, Fever, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Hepatomegaly, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphopenia, Malar flattening, Male hypogonadism, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Non-obstructive azoospermia, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Pneumonia, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Secondary amenorrhea, Sensorineural hearing impairment, Severe combined immunodeficiency, Sparse body hair, Splenomegaly, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Thickened skin, Tracheoesophageal fistula, Umbilical hernia, Ventricular septal defect, Wide intermamillary distance
nIN5	EIF5A	0.869744981	2.18E-08	Translation Factor	BrainSpLMD|1984	OMIM|600187
nIN5	RP11.384F7.2	1.689645083	3.48E-08			
nIN5	MED13L	0.291599799	8.64E-08	Unclassified	BrainSpLMD|23389	SFARI||Autism, 2 - Strong candidate;OMIM|608771;HPO|23389|Ataxia, Autism, Autosomal dominant inheritance, Brachycephaly, Bulbous nose, Clinodactyly, Coloboma, Cryptorchidism, Depressed nasal bridge, Dysarthria, Everted lower lip vermilion, Frontal bossing, Generalized hypotonia, Global developmental delay, Hypertelorism, Incomplete penetrance, Infantile onset, Intellectual disability, moderate, Low-set ears, Macroglossia, Macrotia, Motor delay, Narrow forehead, Open mouth, Patent foramen ovale, Plagiocephaly, Poor speech, Prominent forehead, Recurrent infections, Round face, Short neck, Strabismus, Transposition of the great arteries, Triangular face, Upslanted palpebral fissure, Wide mouth
nIN5	TTTY15	1.331778275	8.99E-08			
nIN5	FNDC5	2.326076817	1.07E-07	Adhesion molecule	BrainSpLMD|252995;Eurexp|euxassay_011781|skeletal muscle	OMIM|611906
nIN5	TRIM36.IT1	1.237030653	1.10E-07			
nIN5	PIP5K1B	1.798156704	1.81E-07	Lipid Kinase	BrainSpLMD|8395	OMIM|602745
nIN5	MTND4P12	0.782231248	1.90E-07			
nIN5	DNAJC2	0.318816965	2.19E-07	Chaperone	BrainSpLMD|27000	OMIM|605502
nIN5	JUND	0.651799752	2.35E-07	Transcription factor	BrainSpLMD|3727;BrainSpMouseDev|16251	OMIM|165162
nIN5	USP9Y	1.472975512	6.66E-07	Ubiquitin proteasome system protein	BrainSpLMD|8287	SFARI||Autism, No category;OMIM|400005;HPO|8287|Azoospermia, Decreased testicular size, Male infertility, Non-obstructive azoospermia, Oligospermia, Y-linked inheritance
nIN5	DUSP1	0.761982303	7.17E-07	Dual specificity phosphatase	BrainSpLMD|1843;Eurexp|euxassay_018571|brain, clavicle, femur, glossopharyngeal IX, mesenchyme, neural retina, nucleus pulposus, olfactory, rib, spinal cord, tongue, trigeminal V, vagus X	OMIM|600714
nIN5	RUNX1T1	0.72823931	8.45E-07	Transcription regulatory protein	BrainSpLMD|862;Eurexp|euxassay_016597|dorsal grey horn, mantle layer;BrainSpMouseDev|12180	OMIM|133435;COSMIC||AML
nIN5	TMSB4XP1	0.500150489	1.07E-06	-	BrainSpLMD|7115	
nIN5	NCAM1	0.589273546	1.55E-06	Adhesion molecule	BrainSpLMD|4684;Eurexp|euxassay_014138|bladder, brain, cervical, cervico-thoracic, cortex, dermal component, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, pericardial cavity, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, ureter, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17734	OMIM|116930
nIN5	LSAMP	1.091044984	1.56E-06	Adhesion molecule	BrainSpLMD|4045	OMIM|603241
nIN5	BCL11B	0.669877765	1.70E-06	Transcription regulatory protein;DNA binding protein	BrainSpLMD|64919;BrainSpMouseDev|37240	OMIM|606558;COSMIC||T-ALL;HPO|64919|Absent speech, Autosomal dominant inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hirsutism, Hypertelorism, Inflammatory abnormality of the skin, Intellectual disability, Micrognathia, Natal tooth, Pulmonary artery stenosis, Seizures, Severe combined immunodeficiency, Short palpebral fissure, Spastic tetraplegia, Umbilical hernia, Wormian bones
nIN5	RAB6A	0.416765229	1.93E-06	GTPase	BrainSpLMD|5870;Eurexp|euxassay_012532|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, molar, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|179513
nIN5	RP11.588P7.1	1.051675447	2.75E-06			
nIN5	MIAT	0.499755512	2.81E-06			OMIM|611082
nIN5	DPYSL5	0.569313553	3.33E-06	Unclassified	BrainSpLMD|56896;BrainSpMouseDev|41755	OMIM|608383
nIN5	TMSB4XP8	0.355311648	3.51E-06	Cytoskeletal associated protein		
nIN5	MTMR4	0.59992904	4.05E-06	Dual specificity phosphatase	BrainSpLMD|9110	OMIM|603559
nIN5	PRKDC	0.379569605	4.35E-06	Serine/threonine kinase;DNA repair protein	BrainSpLMD|5591;Eurexp|euxassay_009524|thymus primordium	SFARI||Autism, 4 - Minimal evidence;OMIM|600899;HPO|5591|Autosomal recessive inheritance, Infantile onset, Microcephaly, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Severe combined immunodeficiency
nIN5	KIF3C	1.028106223	4.35E-06	Motor protein	BrainSpLMD|3797;Eurexp|euxassay_010971|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602845
nIN5	DDX24	0.953270103	4.38E-06	Transport/cargo protein	BrainSpLMD|57062	OMIM|606181
nIN5	STMN1	0.254447154	5.14E-06	Structural protein	BrainSpLMD|3925;Eurexp|euxassay_008627|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|151442
nIN5	ARX	0.906361793	5.57E-06	Transcription factor	BrainSpLMD|170302;Eurexp|euxassay_018148|floor plate, floorplate, mantle layer, mesenchyme, ovary, pancreas, paramesonephric duct, skeletal muscle, tarsus, ventricle, ventricular layer;BrainSpMouseDev|11665	SFARI||Autism, No category;OMIM|300382;HPO|170302|Abnormal hair pattern, Abnormality of skin morphology, Abnormality of the hip bone, Agenesis of corpus callosum, Ambiguous genitalia, Broad alveolar ridges, Choreoathetosis, Coarse facial features, Cryptorchidism, Death in infancy, Decreased testicular size, Delayed speech and language development, Developmental regression, Diarrhea, Duane anomaly, Dysarthria, Dysphagia, Dyspnea, Dystonia, EEG abnormality, Epileptic encephalopathy, Feeding difficulties in infancy, Flexion contracture, Focal dystonia, Generalized hirsutism, Generalized hypotonia, Generalized myoclonic seizures, Gliosis, Global developmental delay, Hemiplegia, High forehead, High palate, Hirsutism, Hyperconvex nail, Hyperreflexia, Hypohidrosis, Hypoplasia of penis, Hypospadias, Hypsarrhythmia, Infantile spasms, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Large eyes, Limb dystonia, Limb joint contracture, Lissencephaly, Long philtrum, Long upper lip, Low anterior hairline, Low-set ears, Lower limb spasticity, Malabsorption, Microcephaly, Micrognathia, Micropenis, Muscle stiffness, Muscular hypotonia, Muscular hypotonia of the trunk, Myoclonus, Neonatal hypotonia, Nystagmus, Optic atrophy, Overlapping toe, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Prominent supraorbital ridges, Protruding ear, Renal dysplasia, Rigidity, Scoliosis, Seizures, Severe global developmental delay, Short stature, Spastic tetraplegia, Spasticity, Specific learning disability, Status epilepticus, Strabismus, Synophrys, Tapered finger, Tetraplegia, Thin upper lip vermilion, Triangular face, Ventriculomegaly, Visual impairment, Wide anterior fontanel, Wide nasal bridge, X-linked inheritance, X-linked recessive inheritance
nIN5	TUBA1C	0.305057553	6.07E-06	Cytoskeletal protein	BrainSpLMD|84790	
nIN5	C20orf194	0.869666478	6.66E-06	Unclassified		OMIM|614146
nIN5	TMSB4X	0.5055724	7.12E-06	Cytoskeletal associated protein		OMIM|300159
nIN5	ARL4D	1.504179034	7.79E-06	GTPase	BrainSpLMD|379	OMIM|600732
nIN5	ADAR	0.707948994	8.61E-06	Enzyme: Deaminase	BrainSpLMD|103;Eurexp|euxassay_018648|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|146920;HPO|103|Arrhinencephaly, Autosomal dominant inheritance, Autosomal recessive inheritance, Cleft eyelid, Dystonia, Global developmental delay, Hemiplegia/hemiparesis, Hyperpigmented/hypopigmented macules, Infantile onset, Intellectual disability, profound, Loss of ability to walk, Loss of speech, Macular hyperpigmentation, Macular hypopigmentation, Macule, Porencephalic cyst, Rigidity, Spasticity, Torsion dystonia, Tremor
nIN5	CTSB	0.908600476	1.13E-05	Cysteine protease	BrainSpLMD|1508	OMIM|116810;HPO|1508|Erythema
nIN5	KIF5A	0.727889336	1.14E-05	Motor protein	BrainSpLMD|3798;Eurexp|euxassay_018169|Meckel's cartilage, axial skeleton, basioccipital bone, brain, cervical, cervico-thoracic, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, olfactory, orbito-sphenoid, pelvic girdle, radius, rib, scapula, spinal cord, temporal bone, thoracic, tibia, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|602821;HPO|3798|Ankle clonus, Athetosis, Autosomal dominant inheritance, Babinski sign, Chorea, Congenital onset, Cortical visual impairment, Delayed myelination, Developmental stagnation, Distal sensory impairment, Dysphagia, Feeding difficulties, Generalized hypotonia, Hyperreflexia, Impaired vibration sensation in the lower limbs, Knee clonus, Lower limb muscle weakness, Microcephaly, Nystagmus, Pes cavus, Phenotypic variability, Progressive, Progressive leukoencephalopathy, Ptosis, Scoliosis, Spastic gait, Spastic paraplegia, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
nIN5	CIR1	0.308298744	1.30E-05	Transcription regulatory protein	BrainSpLMD|9541	OMIM|605228
nIN5	PSMC1	0.942781969	1.31E-05	Ubiquitin proteasome system protein		OMIM|602706
nIN5	TCEB1	0.713433003	1.51E-05			
nIN5	HNRNPH1	0.488335819	1.76E-05	Ribonucleoprotein	BrainSpLMD|3187	OMIM|601035
nIN5	HNRNPA3	0.328233959	1.86E-05	Ribonucleoprotein		OMIM|605372
nIN5	SLC25A36	0.585988049	1.91E-05	Transport/cargo protein	BrainSpLMD|55186	OMIM|616149
nIN5	BNIP3L	0.324271662	2.44E-05	Cell cycle control protein	BrainSpLMD|665;Eurexp|euxassay_002684|thymus primordium	OMIM|605368
nIN5	WHSC1	0.336228522	2.52E-05			
nIN5	NOVA2	0.909786225	3.01E-05	RNA binding protein	BrainSpLMD|4858;Eurexp|euxassay_013411|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lung, mantle layer, neural retina, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|601991
nIN5	PSMA6P1	0.57440077	3.04E-05			
nIN5	EIF4EBP2	0.331365434	3.06E-05	Translation regulatory protein	BrainSpLMD|1979	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602224
nIN5	CRB1	1.620080462	3.17E-05	Unclassified	BrainSpLMD|23418	OMIM|604210;HPO|23418|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Encephalocele, Esotropia, Glaucoma, Hemiplegia/hemiparesis, High-grade hypermetropia, Hyperinsulinemia, Hypermetropia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Muscular hypotonia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paravenous chorioretinal atrophy, Pendular nystagmus, Photophobia, Progressive night blindness, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe visual impairment, Undetectable electroretinogram, Visual impairment, Vitreoretinal degeneration, Wide nasal bridge
nIN5	IRS2	0.381086805	3.21E-05	Adapter molecule	BrainSpLMD|8660;Eurexp|euxassay_014216|cortex, dorsal root ganglion, incisor, lip, molar, skeleton, skin, thymus primordium, ventricular layer	OMIM|600797
nIN5	C7orf55.LUC7L2	0.458660312	3.30E-05			
nIN5	ZC3H11A	0.472565985	3.40E-05	DNA binding protein	BrainSpLMD|9877	OMIM|613513
nIN5	PPP1R12A	0.34764571	3.46E-05	Regulatory/other subunit	BrainSpLMD|4659	OMIM|602021
nIN5	MOB3B	1.810496712	3.82E-05	Unclassified	BrainSpLMD|79817;Eurexp|euxassay_011555|incisor, molar	OMIM|617652
nIN5	CCDC93	0.724302553	3.98E-05	Unclassified	BrainSpLMD|54520;Eurexp|euxassay_019257|adrenal gland, diencephalon, floorplate, medulla	
nIN5	GNB1	0.266768273	4.94E-05	G protein	BrainSpLMD|2782	OMIM|139380;HPO|2782|Acute lymphoblastic leukemia, Autosomal dominant inheritance, EEG abnormality, Failure to thrive, Generalized hypotonia, Global developmental delay, Impaired smooth pursuit, Infantile onset, Intellectual disability, Limb hypertonia, Nystagmus, Polygenic inheritance, Seizures, Strabismus
nIN5	RP11.110G21.2	0.315886817	5.24E-05			
nIN5	ASAP1	1.505427716	5.31E-05	GTPase activating protein	BrainSpLMD|50807	OMIM|605953
nIN5	NDUFC2	0.420341048	5.37E-05	Enzyme: Oxidoreductase	BrainSpLMD|4718	OMIM|603845
nIN5	ST8SIA5	0.662857356	6.64E-05	Enzyme: Sialyltransferase	BrainSpLMD|29906	OMIM|607162
nIN5	RAP2B	0.691640309	6.67E-05	GTPase	BrainSpLMD|5912;Eurexp|euxassay_002574|vibrissa	OMIM|179541
nIN5	GLTP	1.031330211	6.95E-05	Transport/cargo protein	BrainSpLMD|51228;Eurexp|euxassay_005240|anterior, external, thymus primordium	OMIM|608949
nIN5	STXBP5L	1.436054011	7.02E-05	Transport/cargo protein	Eurexp|euxassay_011926|mantle layer	OMIM|609381
nIN5	EVL	0.52111907	7.14E-05	Cytoskeletal protein	BrainSpLMD|51466;BrainSpMouseDev|13803	OMIM|616912
nIN5	AC018643.4	1.247216578	8.59E-05			
nIN5	PTPRF	0.659871765	8.87E-05	Receptor tyrosine phosphatase	BrainSpLMD|5792	OMIM|179590;HPO|5792|Absent nipple, Autosomal recessive inheritance, Broad nasal tip, Small earlobe, Smooth philtrum
nIN5	GLCCI1	1.5461781	9.03E-05	Unclassified	BrainSpLMD|113263;Eurexp|euxassay_014439|axial skeleton, nasal septum, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|82074	OMIM|614283
nIN5	PDIA3	0.340218447	9.10E-05	Enzyme: Isomerase		OMIM|602046
nIN5	ARMC1	0.451629265	9.79E-05	Unclassified	BrainSpLMD|55156	
nIN5	LANCL1	1.589999663	0.000100221	G protein coupled receptor	BrainSpLMD|10314;Eurexp|euxassay_018256|facial VII, glossopharyngeal IX, mantle layer, olfactory, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|604155
nIN5	CTBP2	0.444008776	0.000100547	Adapter molecule;Transcription regulatory protein	BrainSpLMD|1488;Eurexp|euxassay_012486|eyelid, incisor, lung, marginal layer, metanephros, midgut, molar, pancreas, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|12800	OMIM|602619
nIN5	GTF2IRD2B	0.745027429	0.000100565	Transcription factor		OMIM|608900
nIN5	ABI2	0.787006708	0.000103794	Adapter molecule	BrainSpLMD|10152	OMIM|606442
nIN5	SKIDA1	0.539781966	0.00010702	Unclassified	BrainSpLMD|387640;Eurexp|euxassay_003843|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	
nIN5	ABAT	1.213759376	0.000109784	Enzyme: Aminotransferase	BrainSpLMD|18;Eurexp|euxassay_001907|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, thymus primordium, trigeminal V, ventricular layer;BrainSpMouseDev|92603	SFARI||Autism, 4 - Minimal evidence;OMIM|137150;HPO|18|Agenesis of corpus callosum, Autosomal recessive inheritance, Cerebellar hypoplasia, Death in childhood, Downslanted palpebral fissures, Global developmental delay, High-pitched cry, Hyperreflexia, Lethargy, Leukodystrophy, Posterior fossa cyst, Retrognathia, Seizures, Severe muscular hypotonia, Tall stature
nIN5	C6orf62	0.712538642	0.000115299	Unclassified	BrainSpLMD|81688	
nIN5	KCND3	1.965839114	0.000115546	Voltage gated channel	BrainSpLMD|3752	OMIM|605411;HPO|3752|Autosomal dominant inheritance, Cerebellar atrophy, Dysarthria, Dysphagia, Gait ataxia, Gaze-evoked horizontal nystagmus, Hyporeflexia, Intermittent microsaccadic pursuits, Limb ataxia, Myoclonus, Palpitations, Postural tremor, Progressive cerebellar ataxia, Slow progression, Truncal ataxia
nIN5	KIFAP3	0.588022045	0.000119241	Transport/cargo protein	BrainSpLMD|22920;Eurexp|euxassay_012381|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, mesenchyme, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601836
nIN5	NUDT3	0.280221769	0.000122503	Enzyme: Hydrolase	BrainSpLMD|11165	OMIM|609228
nIN5	ERC1	0.31621569	0.00012465	Regulatory/other subunit	BrainSpLMD|23085	OMIM|607127;COSMIC||papillary thyroid, Spitzoid tumour
nIN5	LAMTOR5	0.521470784	0.000136398	Unclassified	BrainSpLMD|10542	OMIM|608521
nIN5	BLOC1S1	1.449723979	0.000138987	Enzyme: Acyltransferase	BrainSpLMD|2647	OMIM|601444
nIN5	PHF21A	0.319750275	0.000164377	Transcription regulatory protein	BrainSpLMD|51317	OMIM|608325;HPO|51317|Brachycephaly, Broad nasal tip, Decreased skull ossification, Depressed nasal tip, Downturned corners of mouth, Epicanthus, Exostoses, Global developmental delay, Micrognathia, Micropenis, Nystagmus, Parietal foramina, Prominent nasal bridge, Seizures, Short philtrum, Strabismus, Underdeveloped nasal alae
nIN5	EXOSC6	0.64129749	0.000164673	Ribonuclease	BrainSpLMD|118460;Eurexp|euxassay_013513|submandibular gland primordium	OMIM|606490
nIN5	SERBP1	0.30252614	0.000169067	RNA binding protein	BrainSpLMD|26135	OMIM|607378
nIN5	SREK1IP1	0.556671731	0.000176886	Regulatory/other subunit	BrainSpLMD|285672	
nIN5	USP24	0.736261928	0.000185668	Ubiquitin proteasome system protein	BrainSpLMD|23358;Eurexp|euxassay_009940|olfactory cortex	OMIM|610569
nIN5	NPIPA7	0.3789441	0.000196152			
nIN5	RPL5P23	1.467053284	0.000207029			
nIN5	TMEM106B	0.46060591	0.000208431	Unclassified	BrainSpLMD|54664	OMIM|613413;HPO|54664|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Aggressive behavior, Alexia, Anxiety, Apraxia, Collectionism, Depressivity, Disinhibition, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, EEG with continuous slow activity, Echolalia, Emotional blunting, Frontotemporal cerebral atrophy, Frontotemporal dementia, Grammar-specific speech disorder, Hyperorality, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Perseveration, Personality changes, Poor speech, Restlessness, Restrictive behavior, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold
nIN5	OCIAD1	0.555062734	0.000223057	Unclassified	BrainSpLMD|54940	
nIN5	CNOT2	0.252649261	0.000225104	Transcription regulatory protein	BrainSpLMD|4848	OMIM|604909
nIN5	GRIA4	1.173378913	0.000226202	Extracellular ligand gated channel	BrainSpLMD|2893;Eurexp|euxassay_006297|bladder, brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, ductus deferens, facial VII, incisor, loop, medulla, metanephros, molar, neural retina, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|14578	OMIM|138246
nIN5	PUM1	0.539754981	0.000233112	RNA binding protein	BrainSpLMD|9698	OMIM|607204
nIN5	REEP3	0.360109109	0.000247749	Unclassified	BrainSpLMD|221035;Eurexp|euxassay_004457|digit 1, digit 2, digit 3, digit 4, digit 5, footplate, handplate, lower leg, trigeminal V, valve, ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|609348
nIN5	RPL34P18	0.292864246	0.000248657			
nIN5	SHPRH	0.264612559	0.00024988	Transcription regulatory protein	BrainSpLMD|257218	OMIM|608048
nIN5	PTGES3P1	0.526241193	0.000282733			
nIN5	NDUFS1	1.110928077	0.000291691	Enzyme: Oxidoreductase	BrainSpLMD|4719;Eurexp|euxassay_018914|dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, liver, mandible, mantle layer, maxilla, midgut, molar, neural retina, orbito-sphenoid, pancreas, stomach, submandibular gland primordium, testis, thymus primordium, trigeminal V, ventral grey horn, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|157655;HPO|4719|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
nIN5	MYO9A	0.327658361	0.000304139	Motor protein	BrainSpLMD|4649	OMIM|604875
nIN5	ARHGEF12	0.42967554	0.000308379	Guanine nucleotide exchange factor	BrainSpLMD|23365	OMIM|604763;COSMIC||AML
nIN5	RPL21P119	1.465075536	0.000314131			
nIN5	DLX1	1.348887367	0.000314235	Transcription factor	BrainSpLMD|1745;Eurexp|euxassay_008426|cochlea, epithelium, footplate, handplate, incisor, inner ear, mantle layer, midgut, naso-lacrimal duct, neural retina, oesophagus, paraxial mesenchyme, retina, skeletal muscle, skeleton, stomach, utricle, vibrissa;BrainSpMouseDev|13169	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600029
nIN5	CAPN7	0.372821794	0.000315673	Cysteine protease	BrainSpLMD|23473	OMIM|606400
nIN5	CREBRF	0.481454482	0.000316662	DNA binding protein	BrainSpLMD|153222	OMIM|617109
nIN5	DNM1L	0.744494035	0.000317801	GTPase	BrainSpLMD|10059	SFARI||Autism, 5 - Hypothesized but untested;OMIM|603850;HPO|10059|Abnormal pyramidal signs, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebral atrophy, Death in infancy, Decreased fetal movement, Deeply set eye, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Horizontal nystagmus, Lactic acidosis, Microcephaly, Oculomotor apraxia, Optic atrophy, Pointed chin, Progressive, Strabismus, Variable expressivity
nIN5	KIF5B	0.35922979	0.000326917	Motor protein	BrainSpLMD|3799;Eurexp|euxassay_019750|olfactory	OMIM|602809;COSMIC||NSCLC, Spitzoid tumour
nIN5	SF3B3	0.432884126	0.000332521	RNA binding protein	BrainSpLMD|23450	OMIM|605592
nIN5	RP5.857K21.11	0.26069754	0.000337443			
nIN5	NSD1	0.486230536	0.00035028	Transcription factor	BrainSpLMD|64324;BrainSpMouseDev|17960	SFARI||Autism, No category;OMIM|606681;COSMIC||AML, Sotos Syndrome;HPO|64324|Abnormal glucose tolerance, Abnormality of immune system physiology, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Accelerated skeletal maturation, Adrenocortical carcinoma, Adrenocortical cytomegaly, Advanced eruption of teeth, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Atrial septal defect, Autosomal dominant inheritance, Behavioral abnormality, Broad foot, Broad forehead, Broad thumb, Camptodactyly of finger, Cardiomegaly, Cardiomyopathy, Cavum septum pellucidum, Coarse facial features, Conductive hearing impairment, Cryptorchidism, Dandy-Walker malformation, Deep philtrum, Deep-set nails, Delayed skeletal maturation, Depressed nasal ridge, Diastasis recti, Dolichocephaly, Downslanted palpebral fissures, Enlarged cisterna magna, Enlarged kidney, Expressive language delay, Feeding difficulties in infancy, Fine hair, Frontal bossing, Genu valgum, Global developmental delay, Gonadoblastoma, Hemihypertrophy, Hepatoblastoma, Hepatomegaly, High anterior hairline, High forehead, High palate, High, narrow palate, Hoarse voice, Hypermetropia, Hyperreflexia, Hypertelorism, Hypoglycemia, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Joint laxity, Joint stiffness, Large fontanelles, Large hands, Long foot, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Macrotia, Mandibular prognathia, Microcephaly, Micrognathia, Midface retrusion, Muscular hypotonia, Myopia, Narrow palate, Neonatal hypoglycemia, Neonatal hypotonia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Nystagmus, Obesity, Omphalocele, Otitis media, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Pes planus, Pointed chin, Poor coordination, Posterior helix pit, Precocious puberty, Prominent forehead, Prominent metopic ridge, Prominent occiput, Proptosis, Redundant skin, Renal cortical cysts, Retrognathia, Round face, Scoliosis, Seizures, Short stature, Small nail, Spasticity, Specific learning disability, Sporadic, Strabismus, Tall stature, Thin nail, Ventricular septal defect, Ventriculomegaly, Vesicoureteral reflux
nIN5	NMT1	1.03194267	0.000357011	Enzyme: Acyltransferase;Unclassified	BrainSpLMD|4836	OMIM|160993
nIN5	RBPJ	0.362725996	0.000359182	Transcription factor;Transcription regulatory protein	BrainSpLMD|3516;BrainSpMouseDev|19427	OMIM|147183;HPO|3516|2-3 toe syndactyly, Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aplasia cutis congenita, Autosomal dominant inheritance, Brachydactyly, Calvarial skull defect, Cataract, Cutis marmorata, Failure to thrive, Finger syndactyly, Hydrocephalus, Microcephaly, Microphthalmia, Pulmonary artery atresia, Short distal phalanx of finger, Short metatarsal, Sparse hair, Split hand, Strabismus, Talipes, Tetralogy of Fallot
nIN5	CARHSP1	1.00388071	0.000380797	Calcium binding protein	BrainSpLMD|23589	OMIM|616885
nIN5	KIAA0226	0.744975789	0.00038522			
nIN5	DDX10	0.614429834	0.000391255	RNA binding protein	BrainSpLMD|1662	OMIM|601235;COSMIC||AML*
nIN5	RALGAPA2	0.408325089	0.000419146	Unclassified	BrainSpLMD|57186	
nIN5	TCF12	0.330789573	0.000426232	Transcription factor	BrainSpLMD|6938;BrainSpMouseDev|21167	OMIM|600480;COSMIC||extraskeletal myxoid chondrosarcoma;HPO|6938|Autosomal dominant inheritance, Brachycephaly, Broad forehead, Craniosynostosis, Facial asymmetry, Frontal bossing, Hearing impairment, Increased intracranial pressure, Plagiocephaly, Proptosis, Strabismus, Underdeveloped supraorbital ridges, Visual field defect
nIN5	GOLGA2	0.412990124	0.000454146	Structural protein	BrainSpLMD|2801;Eurexp|euxassay_010595|clavicle, mandible, maxilla, rib	OMIM|602580
nIN5	CUEDC2	0.577007238	0.000480279	Ubiquitin proteasome system protein	BrainSpLMD|79004	OMIM|614142
nIN5	SYT11	0.516493685	0.000490312	Calcium binding protein	BrainSpLMD|23208	OMIM|608741
nIN5	KIF21B	1.297669681	0.000492088	Unclassified	BrainSpLMD|23046;Eurexp|euxassay_011005|dorsal root ganglion, facial VII, forebrain, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|608322
nIN5	YLPM1	0.662261055	0.000495334	Unclassified	BrainSpLMD|56252	
nIN5	TMED2	0.72197305	0.000523473	Transport/cargo protein	BrainSpLMD|10959	
nIN5	ACADM	0.37114504	0.000551954	Enzyme: Dehydrogenase	BrainSpLMD|34	OMIM|607008;HPO|34|Autosomal recessive inheritance, Cerebral edema, Coma, Decreased plasma carnitine, Elevated hepatic transaminases, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hepatomegaly, Hyperglycinuria, Hypoglycemia, Lethargy, Medium chain dicarboxylic aciduria, Metabolic acidosis, Seizures, Vomiting
nIN5	ZCCHC10	0.421412414	0.00056023	Unclassified	BrainSpLMD|54819	
nIN5	ATXN2	0.58315837	0.000561348	RNA binding protein	BrainSpLMD|6311;Eurexp|euxassay_013424|dorsal root ganglion, facial VII, glossopharyngeal IX, lens, neural retina, submandibular gland primordium, trigeminal V, ventral grey horn	OMIM|601517;HPO|6311|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Bradykinesia, Dementia, Depressivity, Dilated fourth ventricle, Distal amyotrophy, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Dysphagia, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Gaze-evoked nystagmus, Generalized hypotonia, Generalized muscle weakness, Genetic anticipation, Hyporeflexia, Impaired horizontal smooth pursuit, Impaired vibratory sensation, Limb ataxia, Muscle cramps, Myoclonus, Neurodegeneration, Oculomotor apraxia, Olivopontocerebellar atrophy, Ophthalmoplegia, Pain, Paralysis, Postural instability, Postural tremor, Progressive cerebellar ataxia, Respiratory failure, Rigidity, Rod-cone dystrophy, Skeletal muscle atrophy, Slow saccadic eye movements, Spasticity, Spinocerebellar tract degeneration, Urinary bladder sphincter dysfunction, Xerostomia
nIN5	WASF2	0.726806503	0.000565494	Cytoskeletal associated protein	BrainSpLMD|10163	OMIM|605875
nIN5	NDUFB7	0.936797626	0.000580901	Adhesion molecule	BrainSpLMD|4713	OMIM|603842
nIN5	CORO2B	1.446686141	0.000591903	Cytoskeletal associated protein	BrainSpLMD|10391	OMIM|605002
nIN5	HIST2H2BE	1.956583001	0.000604102	DNA binding protein	BrainSpLMD|8349	OMIM|601831
nIN5	KLF4	1.420103387	0.00060735	Transcription regulatory protein	BrainSpLMD|9314;Eurexp|euxassay_005264|arm, bladder, clavicle, cranium, extraembryonic component, femur, fibula, footplate, forelimb, handplate, hindlimb, lower leg, mandible, maxilla, molar, oesophagus, orbito-sphenoid, palatal shelf, penis, rest of mesenchyme, rib, tibia, vertebral axis muscle system, vibrissa;BrainSpMouseDev|16373	OMIM|602253;COSMIC||meningioma
nIN5	TBRG1	0.499049736	0.000625216	DNA binding protein	BrainSpLMD|84897;Eurexp|euxassay_001972|Meckel's cartilage, basisphenoid bone, frontal bone primordium, incisor, molar, orbito-sphenoid, turbinate	OMIM|610614
nIN5	C1orf61	0.352801924	0.000650799	Transcription regulatory protein	BrainSpLMD|10485	
nIN5	SETD2	0.31207264	0.000680176	DNA binding protein	BrainSpLMD|29072	SFARI||Autism, 3 - Suggestive evidence;OMIM|612778;COSMIC||clear cell renal carcinoma;HPO|29072|Abnormality of immune system physiology, Accelerated skeletal maturation, Advanced eruption of teeth, Advanced ossification of carpal bones, Aggressive behavior, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Arnold-Chiari malformation, Autistic behavior, Autosomal dominant inheritance, Conductive hearing impairment, Delayed speech and language development, Depressed nasal ridge, Dolichocephaly, Downslanted palpebral fissures, Feeding difficulties in infancy, Frontal bossing, Generalized hypotonia, Global developmental delay, High anterior hairline, High forehead, High palate, Hirsutism, Hypertelorism, Hypoglycemia, Intellectual disability, Long face, Long foot, Long nose, Macrocephaly, Macrotia, Malar flattening, Mandibular prognathia, Menstrual irregularities, Muscular hypotonia, Obesity, Overgrowth, Phenotypic variability, Pointed chin, Polycystic ovaries, Polyphagia, Precocious puberty, Prominent forehead, Recurrent otitis media, Seizures, Short stature, Shyness, Slurred speech, Syringomyelia, Tall stature, Ventriculomegaly
nIN5	RSRC1	0.398302541	0.000685688	Unclassified	BrainSpLMD|51319	OMIM|613352
nIN5	RPS4Y1	0.860527842	0.00069322	Ribosomal subunit	BrainSpLMD|6192;BrainSpMouseDev|19865	OMIM|470000
nIN5	EIF2S2	0.311434401	0.000705544	Translation regulatory protein	BrainSpLMD|8894	OMIM|603908
nIN5	CSE1L	0.698832186	0.000725911	Transport/cargo protein	BrainSpLMD|1434;Eurexp|euxassay_000112|cortex, gland, glossopharyngeal IX, incisor, liver, lung, metanephros, physiological umbilical hernia, submandibular gland primordium, thymus primordium, trigeminal V, turbinate bones, vagus X, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|601342
nIN5	COPZ1	0.613099482	0.00075532	Transport/cargo protein	BrainSpLMD|22818	OMIM|615472
nIN5	TULP4	0.458454369	0.000767237	Unclassified	BrainSpLMD|56995;Eurexp|euxassay_019639|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, marginal layer, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ;BrainSpMouseDev|44684	
nIN5	SRSF6	0.321659391	0.000774291	RNA binding protein	BrainSpLMD|6431;Eurexp|euxassay_012639|pituitary, ventricular layer, vibrissa	OMIM|601944
nIN5	SUPT20H	0.829730363	0.000776206	Transcription regulatory protein	BrainSpLMD|55578;Eurexp|euxassay_002226|foregut-midgut junction, hindgut, midgut, rectum, stomach	OMIM|613417
nIN5	ZDHHC17	0.903217308	0.000780295	Unclassified	BrainSpLMD|23390	OMIM|607799
nIN5	C4orf3	0.363412511	0.000815361	Integral membrane protein	BrainSpLMD|401152	
nIN5	YWHAH	0.49368513	0.000820234	Adapter molecule	BrainSpLMD|7533;Eurexp|euxassay_007180|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|113508
nIN5	ST8SIA4	1.526828747	0.000827969	Enzyme: Sialyltransferase	BrainSpLMD|7903;Eurexp|euxassay_007776|brain, dorsal root ganglion, left lung, mesenchyme, neural retina, olfactory, organ system, right lung, spinal cord, trigeminal V	OMIM|602547
nIN5	CCAR1	0.724034814	0.000833626	Cell cycle control protein	BrainSpLMD|55749	OMIM|612569
nIN5	ADD2	0.346464549	0.000841886	Anchor protein	BrainSpLMD|119;Eurexp|euxassay_000013|alar plate, basal plate, bladder, brain, cerebellum, cerebral cortex, diencephalon, dorsal root ganglion, facial VII, forebrain, ganglion, glossopharyngeal IX, gut, heart, lateral wall, left, liver, lobe, lung, mantle layer, marginal layer, neural retina, olfactory cortex, olfactory lobe, pons, retina, right, submandibular gland primordium, sulcus limitans, telencephalon, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	OMIM|102681
nIN5	PRRC2B	0.785908308	0.000897398	Unclassified	BrainSpLMD|84726;Eurexp|euxassay_012252|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vomeronasal organ	
nIN5	ETV1	1.802651574	0.00092306	Transcription factor	BrainSpLMD|2115;BrainSpMouseDev|13786	OMIM|600541;COSMIC||Ewing sarcoma, prostate
nIN5	ZBTB43	0.660356409	0.000936757	Transcription regulatory protein	BrainSpLMD|23099	
nIN5	ZHX1	0.58267119	0.000956131	Transcription factor	BrainSpLMD|11244;BrainSpMouseDev|22527	OMIM|604764
nIN5	NDUFA6	0.28009163	0.000961851	Enzyme: Oxidoreductase	BrainSpLMD|4700	OMIM|602138
nIN5	C16orf72	0.872154437	0.000968262	Unclassified	BrainSpLMD|29035	
nIN5	FNDC3A	0.344202567	0.00097738	Integral membrane protein	BrainSpLMD|22862;Eurexp|euxassay_010190|footplate, handplate, inner ear, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, submandibular gland primordium;BrainSpMouseDev|106383	OMIM|615794
nIN5	DNAJC18	0.666135135	0.000985564	Unclassified	BrainSpLMD|202052;Eurexp|euxassay_012133|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones	
nIN5	PTCD3	0.251296136	0.00100163	Unclassified	BrainSpLMD|55037	OMIM|614918
nIN5	H3F3C	0.366951413	0.001024746	Unclassified		OMIM|616134
nIN5	N4BP2L2	0.521258551	0.001040154	Unclassified	BrainSpLMD|10443	OMIM|615788
nIN5	PIKFYVE	0.329614601	0.001061898	Lipid Kinase	BrainSpLMD|200576	OMIM|609414;HPO|200576|Autosomal dominant inheritance, Photophobia, Speckled corneal dystrophy
nIN5	SEC31A	0.516308751	0.001085743	Transport/cargo protein	BrainSpLMD|22872	OMIM|610257
nIN5	NPIPB3	0.28740517	0.001095744	Unclassified	BrainSpLMD|23117	
nIN5	SP9	0.680217104	0.001161556		BrainSpLMD|100131390;BrainSpMouseDev|120188	
nIN5	PDXDC1	0.527458378	0.001164715	Enzyme: Decarboxylase		OMIM|614244
nIN5	GTF3C6	1.03842905	0.001201504	Unclassified	BrainSpLMD|112495	OMIM|611784
nIN5	SCAMP1	0.286829561	0.001291813	Membrane transport protein	BrainSpLMD|9522	OMIM|606911
nIN5	FKBP1A	0.643474676	0.001315965	Enzyme: Isomerase	BrainSpLMD|2280;Eurexp|euxassay_003477|Meckel's cartilage, incisor, lip, mantle layer, molar, orbito-sphenoid, ventral grey horn, ventricular layer	OMIM|186945
nIN5	NBPF25P	0.738488381	0.001324356			
nIN5	PIP4K2B	0.878319259	0.001327383	Lipid Kinase	BrainSpLMD|8396;Eurexp|euxassay_004158|diencephalon, mandible, olfactory, petrous part, telencephalon, ventricular layer	OMIM|603261
nIN5	PRDX5	0.548009489	0.001333027	Enzyme: Oxidoreductase	BrainSpLMD|25824	OMIM|606583
nIN5	CLTC	0.439780353	0.001358929	Structural protein	BrainSpLMD|1213	OMIM|118955;COSMIC||ALCL, renal
nIN5	TIMM13	0.372765994	0.001407029	Transport/cargo protein	BrainSpLMD|26517	OMIM|607383
nIN5	XRCC5	0.258904705	0.001410854	DNA binding protein	BrainSpLMD|7520;Eurexp|euxassay_009101|thymus primordium	OMIM|194364
nIN5	PJA2	0.351272972	0.001489474	Ubiquitin proteasome system protein	BrainSpLMD|9867;Eurexp|euxassay_000283|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	
nIN5	DLD	0.376158439	0.001514767	Enzyme: Dehydrogenase	BrainSpLMD|1738	OMIM|238331;HPO|1738|Ataxia, Autosomal recessive inheritance, Dystonia, Elevated hepatic transaminases, Elevated plasma branched chain amino acids, Encephalopathy, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hepatic encephalopathy, Hepatomegaly, Hypercoagulability, Hypertrophic cardiomyopathy, Hypoglycemia, Increased serum lactate, Increased urine alpha-ketoglutarate concentration, Lactic acidosis, Lethargy, Metabolic acidosis, Microcephaly, Neurodevelopmental delay, Seizures, Spasticity, Variable expressivity, Vomiting
nIN5	KDM2A	0.578065777	0.001535603	Ubiquitin proteasome system protein	BrainSpLMD|22992	OMIM|605657
nIN5	ALDH7A1	0.271790363	0.001643183	Enzyme: Oxidoreductase	BrainSpLMD|501	OMIM|107323;HPO|501|Abnormality of metabolism/homeostasis, Abnormality of movement, Autosomal recessive inheritance, Delayed speech and language development, EEG abnormality, Fetal distress, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Intellectual disability, Muscular hypotonia, Neonatal respiratory distress, Neurological speech impairment, Prenatal movement abnormality, Respiratory distress, Status epilepticus
nIN5	ABCA1	1.547799898	0.00165842	Transport/cargo protein	BrainSpLMD|19;Eurexp|euxassay_009354|brain, spinal cord, ventricular layer	OMIM|600046;HPO|19|Abdominal pain, Abnormality of the liver, Accelerated atherosclerosis, Anemia, Autosomal dominant inheritance, Autosomal recessive inheritance, Blurred vision, Chronic noninfectious lymphadenopathy, Corneal opacity, Coronary artery stenosis, Decreased circulating high-density lipoprotein levels, Distal amyotrophy, Distal muscle weakness, Dry skin, EMG abnormality, Ectropion, Facial diplegia, Hemiplegia/hemiparesis, Hepatomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Hyporeflexia, Impaired pain sensation, Impaired temperature sensation, Left ventricular hypertrophy, Lymphadenopathy, Myocardial infarction, Nail dysplasia, Nail dystrophy, Opacification of the corneal stroma, Orange discoloured tonsils, Peripheral axonal neuropathy, Peripheral demyelination, Progressive peripheral neuropathy, Splenomegaly, Visual impairment, Xanthomatosis
nIN5	PCBP1	0.847414095	0.001661326	RNA binding protein	BrainSpLMD|5093;Eurexp|euxassay_006545|embryo	OMIM|601209;COSMIC||CRC
nIN5	KIAA0020	0.808517815	0.001738211			
nIN5	COPA	0.69054422	0.001742204	Transport/cargo protein	BrainSpLMD|1314;Eurexp|euxassay_003303|clavicle, mandible, maxilla, rib	OMIM|601924
nIN5	KAT6A	0.339045602	0.001773117	Enzyme: Acyltransferase	BrainSpLMD|7994	SFARI||Autism, 3 - Suggestive evidence;OMIM|601408;COSMIC||AML;HPO|7994|Abnormality of the dentition, Atrial septal defect, Autosomal dominant inheritance, Broad nasal tip, Cortical visual impairment, Craniosynostosis, Downturned corners of mouth, Epicanthus, Feeding difficulties, Global developmental delay, Intellectual disability, Low-set ears, Microcephaly, Microretrognathia, Muscular hypotonia, Narrow forehead, Neonatal hypotonia, Neonatal respiratory distress, Patent ductus arteriosus, Plagiocephaly, Posteriorly rotated ears, Prominent nasal bridge, Ptosis, Respiratory distress, Strabismus, Thin upper lip vermilion, Ventricular septal defect
nIN5	NOLC1	0.549765861	0.001776906	Transcription factor	BrainSpLMD|9221	OMIM|602394
nIN5	MPHOSPH8	0.556796708	0.001780085	Cell cycle control protein	BrainSpLMD|54737	OMIM|611626
nIN5	ARHGAP32	0.860130973	0.001794432		BrainSpLMD|9743	SFARI||Autism, 4 - Minimal evidence;OMIM|608541
nIN5	SMARCA4	0.254889531	0.001847754	Transcription factor	BrainSpLMD|6597;Eurexp|euxassay_019506|cervical, cervico-thoracic, clavicle, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, incisor, lung, metanephros, midbrain, midgut, molar, neural retina, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, spinal cord, stomach, submandibular gland primordium, telencephalon, testis, thoracic, thymus primordium, trachea, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ;BrainSpMouseDev|20348	SFARI||Autism, 3 - Suggestive evidence;OMIM|603254;COSMIC||NSCLC, SCCOHT;HPO|6597|Abnormality of cardiovascular system morphology, Abnormality of the corpus callosum, Abnormality of the dentition, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Autosomal dominant inheritance, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Delayed skeletal maturation, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Feeding difficulties, Feeding difficulties in infancy, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hearing impairment, Hypertrichosis, Hypoplastic fifth fingernail, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Macroglossia, Microcephaly, Muscular hypotonia, Nystagmus, Recurrent respiratory infections, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Slow-growing hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick nasal alae, Wide mouth, Wide nasal bridge, Wide nose
nIN5	POLR3A	0.767703873	0.001857647	RNA polymerase	BrainSpLMD|11128	OMIM|614258;HPO|11128|Abnormal upper motor neuron morphology, Ataxia, Autosomal recessive inheritance, Babinski sign, CNS hypomyelination, Cerebellar atrophy, Cerebral cortical atrophy, Delayed puberty, Drooling, Dysarthria, Dysmetria, Dysphagia, Dystonia, Global developmental delay, Hypergonadotropic hypogonadism, Hyperreflexia, Hypodontia, Hypogonadotrophic hypogonadism, Hypoplasia of the corpus callosum, Leukodystrophy, Myopia, Oligodontia, Phenotypic variability, Postural tremor, Progressive, Short stature, Spasticity
nIN5	LRCH3	0.287288272	0.001863672	Unclassified	BrainSpLMD|84859	
nIN5	RLIM	0.327192911	0.001890722	Transcription regulatory protein	BrainSpLMD|51132;Eurexp|euxassay_006673|embryo	SFARI||Autism, No category;OMIM|300379;HPO|51132|Behavioral abnormality, Broad forehead, Cryptorchidism, Feeding difficulties, Fine hair, Global developmental delay, Hypertelorism, Intellectual disability, Microcephaly, Micrognathia, Poor speech, Prominent nose, Wide nasal bridge, X-linked recessive inheritance
nIN5	POGK	0.472693131	0.001960072	Unclassified	BrainSpLMD|57645	
nIN5	SUCO	0.281516167	0.001992919	Integral membrane protein	BrainSpLMD|51430	
nIN5	PTPRA	0.287729442	0.001995315	Receptor tyrosine phosphatase	BrainSpLMD|5786;Eurexp|euxassay_007474|embryo	OMIM|176884
nIN5	AGO4	0.488367878	0.002022848	Translation regulatory protein	BrainSpLMD|192670	OMIM|607356
nIN5	FTH1	0.300704796	0.002053066	Storage protein	BrainSpLMD|2495	OMIM|134770;HPO|2495|Autosomal dominant inheritance, Increased serum ferritin
nIN5	PBRM1	0.579578766	0.002055755	Regulatory/other subunit	BrainSpLMD|55193;BrainSpMouseDev|42766	OMIM|606083;COSMIC||clear cell renal carcinoma, breast
nIN5	15-Sep	0.419109457	0.002075147			
nIN5	GRIA1	0.381642561	0.002082547	Extracellular ligand gated channel	BrainSpLMD|2890;Eurexp|euxassay_018233|mantle layer, neural retina, palatal shelf, saccule;BrainSpMouseDev|14575	SFARI||Autism, 2 - Strong candidate;OMIM|138248
nIN5	RDH11	1.103994852	0.002146643	Enzyme: Dehydrogenase	BrainSpLMD|51109	OMIM|607849;HPO|51109|Autosomal recessive inheritance, Dental malocclusion, Global developmental delay, Malar flattening, Retinal dystrophy, Short stature, Upslanted palpebral fissure, Widely spaced teeth
nIN5	DNMT3A	0.779839775	0.002178595	DNA methyltransferase	BrainSpLMD|1788;BrainSpMouseDev|13214	SFARI||Autism, 3 - Suggestive evidence;OMIM|602769;COSMIC||AML;HPO|1788|Autosomal dominant inheritance, Blepharophimosis, Intellectual disability, Macrocephaly, Round face, Tall stature
nIN5	CHD6	0.496447231	0.002182203	DNA binding protein	BrainSpLMD|84181	OMIM|616114
nIN5	IER2	1.545904695	0.002238661	Transcription factor	BrainSpLMD|9592;Eurexp|euxassay_013742|cochlea, incisor, molar, submandibular gland primordium, utricle, vestibular component, vibrissa	
nIN5	XRN1	0.446048383	0.002308325	Ribonuclease	BrainSpLMD|54464	OMIM|607994
nIN5	SYNRG	1.053142769	0.002315321	Transport/cargo protein	BrainSpLMD|11276	OMIM|607291
nIN5	TUBBP1	0.506816777	0.002319375			
nIN5	PHACTR1	0.655333042	0.002349167	Enzyme regulator		OMIM|608723
nIN5	ACTR10	0.261647664	0.002358438	Cytoskeletal associated protein	BrainSpLMD|55860	
nIN5	SLC25A6	0.970830039	0.002364522	Transport/cargo protein		OMIM|403000
nIN5	TMEM2	0.838844407	0.002442486	Integral membrane protein	BrainSpLMD|23670	OMIM|605835
nIN5	PREPL	0.464287239	0.002481167	Serine protease	BrainSpLMD|9581;Eurexp|euxassay_004469|bladder, brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, retina, spinal cord, thoracic, tongue, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII	OMIM|609557;HPO|9581|Autosomal recessive inheritance, Congenital onset, Cystinuria, Decreased fetal movement, Depressed nasal bridge, Dolichocephaly, Epicanthus, Failure to thrive, Fatigue, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, Growth delay, Growth hormone deficiency, Hypocalcemia, Hypogonadism, Intellectual disability, moderate, Lactic acidosis, Long eyelashes, Low-set, posteriorly rotated ears, Mitochondrial respiratory chain defects, Motor delay, Muscular hypotonia, Nasal speech, Nephrolithiasis, Polyphagia, Ptosis, Retrognathia, Seizures, Short stature, Tented upper lip vermilion
nIN5	EAF1	0.290896381	0.00266403	Transcription regulatory protein	BrainSpLMD|85403;Eurexp|euxassay_017241|olfactory	OMIM|608315
nIN5	DDR1	1.125857525	0.002666133	Receptor tyrosine kinase	BrainSpLMD|780;BrainSpMouseDev|12090	OMIM|600408
nIN5	C7orf73	0.350140838	0.002727482			
nIN5	TLK2	0.333137144	0.0027704	Cell cycle control protein	BrainSpLMD|11011	SFARI||Autism, 5 - Hypothesized but untested;OMIM|608439
nIN5	RPS17L	0.268535319	0.002790598			
nIN5	ARIH1	0.313901922	0.002819304	Ubiquitin proteasome system protein	BrainSpLMD|25820	OMIM|605624
nIN5	ZAK	1.360845969	0.002882499			
nIN5	VBP1	0.257856422	0.00297843	Chaperone	BrainSpLMD|7411	OMIM|300133
nIN5	IPO9	1.173071512	0.003002748	Transport/cargo protein	BrainSpLMD|55705	
nIN5	ZC3H11B	0.450073092	0.003021486			
nIN5	NPEPPS	0.411024126	0.00310273	Aminopeptidase	BrainSpLMD|9520;Eurexp|euxassay_011604|dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, midgut, neural retina, submandibular gland primordium, trigeminal V, urethra, vestibulocochlear VIII, vibrissa	OMIM|606793
nIN5	SBNO1	0.891006287	0.00316702	Unclassified	BrainSpLMD|55206	OMIM|614274
nIN5	TUBB	0.43645252	0.003186966	Cytoskeletal protein	BrainSpLMD|203068	OMIM|191130;HPO|203068|Abnormality of cardiovascular system morphology, Abnormality of the skin, Ataxia, Autosomal dominant inheritance, Blepharophimosis, Brachycephaly, Cerebellar hypoplasia, Cleft palate, Congenital onset, Delayed speech and language development, Edema, Epicanthus, Flat face, Global developmental delay, High palate, Hypertelorism, Hypoplasia of the brainstem, Hypoplastic nipples, Increased number of skin folds, Intellectual disability, Irregular hyperpigmentation, Localized neuroblastoma, Low-set ears, Microcephaly, Motor delay, Narrow mouth, Periorbital fullness, Posteriorly rotated ears, Short neck, Short palpebral fissure, Thickened skin, Wide intermamillary distance
nIN5	HNRNPD	0.353502624	0.003362368	RNA binding protein	BrainSpLMD|3184	OMIM|601324
nIN5	SGPL1	1.346561674	0.003362569	Enzyme: Lyase	BrainSpLMD|8879;Eurexp|euxassay_009987|mantle layer, mesenchyme, metanephros, olfactory, renal/urinary system, thymus primordium	OMIM|603729
nIN5	ALMS1	0.3599866	0.003394355	Unclassified	BrainSpLMD|7840;Eurexp|euxassay_013199|epithelium, olfactory	OMIM|606844;HPO|7840|Abnormality of the dentition, Abnormality of the hand, Acanthosis nigricans, Accelerated skeletal maturation, Alopecia, Asthma, Atherosclerosis, Autosomal recessive inheritance, Blindness, Cataract, Chorioretinal abnormality, Chronic active hepatitis, Chronic otitis media, Cone/cone-rod dystrophy, Congestive heart failure, Constriction of peripheral visual field, Death in early adulthood, Decreased circulating high-density lipoprotein levels, Diabetes insipidus, Dilated cardiomyopathy, Elevated hepatic transaminases, Gingivitis, Global developmental delay, Growth hormone deficiency, Gynecomastia, Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hyperostosis frontalis interna, Hypertension, Hypertriglyceridemia, Hyperuricemia, Hypothyroidism, Insulin resistance, Insulin-resistant diabetes mellitus, Kyphosis, Menstrual irregularities, Multinodular goiter, Nephritis, Nystagmus, Otitis media, Pes planus, Photophobia, Pigmentary retinopathy, Progressive sensorineural hearing impairment, Progressive visual loss, Pulmonary arterial hypertension, Recurrent pneumonia, Recurrent respiratory infections, Renal insufficiency, Respiratory insufficiency, Scoliosis, Short stature, Subcapsular cataract, Truncal obesity, Tubulointerstitial nephritis, Type II diabetes mellitus
nIN5	HTATSF1	1.02330442	0.003436	Transcription factor	BrainSpLMD|27336	OMIM|300346
nIN5	FAM193A	0.263506022	0.003496328	DNA binding protein	BrainSpLMD|8603	
nIN5	ARNT	1.06024898	0.003534982	Transcription factor	BrainSpLMD|405;BrainSpMouseDev|11650	OMIM|126110;COSMIC||AML
nIN5	SUGT1	0.677022528	0.00358763	Cell cycle control protein;Ubiquitin proteasome system protein	BrainSpLMD|10910	OMIM|604098
nIN5	SLMO2	0.263665087	0.003590672			
nIN5	IREB2	0.569479254	0.003636843	RNA binding protein	BrainSpLMD|3658	OMIM|147582
nIN5	RPL21P120	0.279982013	0.003661068			
nIN5	RSPRY1	0.443373337	0.003722783	Ubiquitin proteasome system protein	BrainSpLMD|89970	OMIM|616585;HPO|89970|Abnormal facial shape, Autosomal recessive inheritance, Craniosynostosis, Delayed skeletal maturation, Depressed nasal bridge, Epicanthus, Hypertelorism, Intellectual disability, Low-set ears, Malar flattening, Microcephaly, Microtia, Motor delay, Narrow pelvis bone, Osteopenia, Overlapping toe, Platyspondyly, Proximal femoral epiphysiolysis, Ptosis, Short femoral neck, Short metacarpal, Short neck, Short nose, Short stature, Skull asymmetry, Small epiphyses, Strabismus, Tented upper lip vermilion, Thick vermilion border, Thoracolumbar scoliosis
nIN5	STXBP4	1.699500943	0.003749241	Adapter molecule	BrainSpLMD|252983	OMIM|610415
nIN5	MKLN1	0.454430901	0.003786249	Adhesion molecule	BrainSpLMD|4289	OMIM|605623
nIN5	NBPF15	0.853285851	0.003817503	Unclassified		OMIM|614005
nIN5	AC010729.1	0.854143563	0.003831549			
nIN5	DOCK11	1.481555887	0.003941543	Unclassified	BrainSpLMD|139818	OMIM|300681
nIN5	DARS	0.38759597	0.004025602	ATPase	BrainSpLMD|1615	OMIM|603084;HPO|1615|Autosomal recessive inheritance, Babinski sign, CNS hypomyelination, Hyperreflexia, Hypoplasia of the corpus callosum, Infantile onset, Leukoencephalopathy, Motor delay, Muscular hypotonia of the trunk, Nystagmus, Progressive, Spasticity
nIN5	COPG2	1.343916378	0.004033163	Transport/cargo protein	BrainSpMouseDev|33453	OMIM|604355
nIN5	NEDD4L	0.403217894	0.004101691	Ubiquitin proteasome system protein	BrainSpLMD|23327;Eurexp|euxassay_011535|brain, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, metanephros, midgut, neural retina, oesophagus, olfactory, pancreas, rectum, renal/urinary system, rest of mesenchyme, skeletal muscle, spinal cord, stomach, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|606384;HPO|23327|2-3 toe syndactyly, Autosomal dominant inheritance, Cleft palate, Congenital onset, Cryptorchidism, Global developmental delay, Intellectual disability, Micrognathia, Muscular hypotonia of the trunk, Strabismus
nIN5	LRCH2	0.315385352	0.00411704	Unclassified	BrainSpLMD|57631;Eurexp|euxassay_013951|anterior abdominal wall, bladder, brain, cortex, extrinsic, metanephros, spinal cord	
nIN5	SUGP2	0.44435282	0.004150499	RNA binding protein	BrainSpLMD|10147;Eurexp|euxassay_009811|mandible, maxilla, orbito-sphenoid, rib	OMIM|607993
nIN5	FOSB	0.691957655	0.004195335	Transcription factor	BrainSpLMD|2354	OMIM|164772
nIN5	CNOT7	0.293243129	0.004268622	Transcription regulatory protein	BrainSpLMD|29883;Eurexp|euxassay_011947|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, brain, dorsal root ganglion, femur, humerus, nasal septum, orbito-sphenoid, petrous part, rib, scapula, spinal cord, turbinate bones	OMIM|604913
nIN5	CASC15	0.630586234	0.004377023			OMIM|616610
nIN5	BZW1P2	0.456738184	0.00440681			
nIN5	EIF3J	0.446921527	0.004459765	Translation regulatory protein	BrainSpLMD|8669	OMIM|603910
nIN5	API5	0.2867115	0.004566992	Unclassified	BrainSpLMD|8539;Eurexp|euxassay_007141|embryo	OMIM|609774
nIN5	FNTA	0.262869536	0.00459285	Enzyme: Transferase	BrainSpLMD|2339	OMIM|134635
nIN5	RBM23	0.586684803	0.004605582	Transcription regulatory protein	BrainSpLMD|55147	
nIN5	SBF2	0.47047245	0.004636499	Unclassified	BrainSpLMD|81846	OMIM|607697;HPO|81846|Areflexia, Autosomal recessive inheritance, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Difficulty walking, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Glaucoma, Hammertoe, Heterogeneous, Hyporeflexia, Juvenile onset, Kyphoscoliosis, Onion bulb formation, Pes cavus, Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Split hand, Steppage gait, Talipes equinovarus, Ulnar claw
nIN5	KIAA1715	1.058028436	0.004734087			
nIN5	DLEU2	0.704311024	0.004834593	Unclassified	BrainSpLMD|8847	OMIM|605766
nIN5	ATP9A	0.450058799	0.004947741	ATPase		OMIM|609126
nIN5	SCD5	0.499348797	0.005004373	Enzyme: Oxidoreductase	BrainSpLMD|79966	OMIM|608370
nIN5	SPCS2P4	0.680965661	0.005265688			
nIN5	ZEB2	0.632748879	0.005296532	Transcription regulatory protein	BrainSpLMD|9839;Eurexp|euxassay_005774|bladder, dorsal grey horn, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, lung, mantle layer, metanephros, midgut, nasal septum, penis, pharyngo-tympanic tube, stomach;BrainSpMouseDev|23887	OMIM|605802;HPO|9839|Abdominal distention, Abnormality of metabolism/homeostasis, Abnormality of the abdominal wall, Abnormality of the rib cage, Absent speech, Atrial septal defect, Autosomal dominant inheritance, Broad eyebrow, Delayed eruption of teeth, Drooling, Generalized hypotonia, Happy demeanor, Hypoplasia of the corpus callosum, Intellectual disability, moderate, Motor delay, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pulmonary artery sling, Pulmonary artery stenosis, Pulmonic stenosis, Supernumerary nipple, Ventricular septal defect, Vomiting, Widely spaced teeth
nIN5	NCOA6	0.480482573	0.005328075	Transcription regulatory protein	BrainSpLMD|23054;Eurexp|euxassay_019521|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, metanephros, neural retina, olfactory, submandibular gland primordium, trigeminal V, vagus X, vibrissa, vomeronasal organ;BrainSpMouseDev|35686	OMIM|605299
nIN5	POMP	0.340309836	0.00534624	Unclassified	BrainSpLMD|51371;Eurexp|euxassay_002063|thymus primordium	OMIM|613386;HPO|51371|Amniotic constriction ring, Autosomal recessive inheritance, Congenital nonbullous ichthyosiform erythroderma, Honeycomb palmoplantar keratoderma, Hyperconvex nail, Ichthyosis, Linear arrays of macular hyperkeratoses in flexural areas, Nail dystrophy, Palmoplantar keratoderma, Parakeratosis
nIN5	ARIH2	0.677223481	0.005463248	Ubiquitin proteasome system protein	BrainSpLMD|10425	OMIM|605615
nIN5	KIAA1429	0.305691116	0.005507641			
nIN5	APBB2	0.367067077	0.005540192	Adapter molecule	BrainSpLMD|323;Eurexp|euxassay_007659|corpus striatum, mantle layer, nasal septum, neural retina, turbinate bones, ventral grey horn	OMIM|602710
nIN5	MYCBP2	0.279409588	0.005620074	Transcription regulatory protein	BrainSpLMD|23077;Eurexp|euxassay_009485|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|69854	OMIM|610392
nIN5	KIAA0368	0.671442417	0.005672968	Translation regulatory protein	BrainSpLMD|23392	OMIM|616694
nIN5	CTNNA1	0.767198964	0.005735196	Cytoskeletal protein	BrainSpLMD|1495;Eurexp|euxassay_018188|embryo	OMIM|116805;HPO|1495|Autosomal dominant inheritance
nIN5	NUFIP2	0.511381395	0.005764505	RNA binding protein	BrainSpLMD|57532	OMIM|609356
nIN5	CHD9	0.716174455	0.005881388	DNA binding protein	BrainSpLMD|80205	OMIM|616936
nIN5	CCDC23	1.04320188	0.005940466			
nIN5	KIAA1586	0.897062871	0.005941024	Unclassified	BrainSpLMD|57691	SFARI||Autism, 3 - Suggestive evidence
nIN5	FAM208A	0.255935379	0.005983478	Cell cycle control protein	BrainSpLMD|23272	OMIM|616493
nIN5	LTN1	0.395009853	0.00617048	Ubiquitin proteasome system protein	BrainSpLMD|26046	OMIM|613083
nIN5	SOX1	0.670917643	0.006209389	Transcription factor	BrainSpLMD|6656;Eurexp|euxassay_019565|ventral grey horn, ventricular layer	OMIM|602148
nIN5	ELAVL3	0.280238627	0.006251302	RNA binding protein	BrainSpLMD|1995	SFARI||Autism, 3 - Suggestive evidence;OMIM|603458
nIN5	CDV3	0.982620029	0.00637681	Unclassified	BrainSpLMD|55573	
nIN5	CTTNBP2NL	0.863027125	0.006565567	Unclassified	BrainSpLMD|55917;Eurexp|euxassay_003204|axial muscle, bladder, calyces, hindgut, lobe, midgut, oral epithelium, orbito-sphenoid, rectum, stomach, submandibular gland primordium, urethra, vibrissa	OMIM|615100
nIN5	ZNF711	0.667714187	0.006588914	Transcription factor	BrainSpLMD|7552	OMIM|314990;HPO|7552|Intellectual disability, Intellectual disability, moderate, X-linked inheritance
nIN5	MKRN1	0.42398734	0.006608825	Ubiquitin proteasome system protein	BrainSpLMD|23608	OMIM|607754
nIN5	TRIM26	0.339649705	0.006673649	DNA binding protein	BrainSpLMD|7726	OMIM|600830
nIN5	POGZ	0.375829946	0.006697128	Transcription regulatory protein	BrainSpLMD|23126	SFARI||Autism, 1 - High confidence;OMIM|614787;HPO|23126|Abnormal electroretinogram, Abnormality of visual evoked potentials, Astigmatism, Autosomal dominant inheritance, Bilateral sensorineural hearing impairment, Brachycephaly, Brachydactyly, Broad nasal tip, Cerebral atrophy, Constipation, Cortical visual impairment, Depressed nasal bridge, Downturned corners of mouth, Facial hypotonia, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, High palate, Hypermetropia, Hypoglycemic seizures, Hypoplasia of the corpus callosum, Intellectual disability, Iris coloboma, Joint laxity, Low-set ears, Mandibular prognathia, Microcephaly, Midface retrusion, Myopia, Open mouth, Optic atrophy, Pointed chin, Posteriorly rotated ears, Rod-cone dystrophy, Self-injurious behavior, Short neck, Short philtrum, Short stature, Strabismus
nIN5	ELAVL2	0.587103359	0.006711318	RNA binding protein	BrainSpLMD|1993;Eurexp|euxassay_005246|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, oesophagus, olfactory, pharynx, respiratory, retina, spinal cord, stomach, testis, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|601673
nIN5	PDCD5	0.364526394	0.006781993	Unclassified	BrainSpLMD|9141	OMIM|604583
nIN5	CDK19	1.009363549	0.006956502	Serine/threonine kinase	BrainSpLMD|23097	OMIM|614720
nIN5	PELI2	0.327924086	0.007003985	Unclassified	BrainSpLMD|57161;Eurexp|euxassay_014344|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|614798
nIN5	CANX	0.320237927	0.007178925	Chaperone	BrainSpLMD|821	OMIM|114217
nIN5	SNW1	0.876651969	0.007252773	Transcription regulatory protein	BrainSpLMD|22938;Eurexp|euxassay_019554|axial muscle, lung, mantle layer, marginal layer, metanephros, midgut, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa;BrainSpMouseDev|42197	OMIM|603055
nIN5	ZNF83	0.289318787	0.007363394	DNA binding protein	BrainSpLMD|55769	OMIM|194558
nIN5	FADS1	0.748841063	0.007551602	Enzyme: Oxidoreductase	BrainSpLMD|3992;Eurexp|euxassay_000686|adrenal gland, testis	OMIM|606148
nIN5	KPNA1	0.451088016	0.007560656	Transport/cargo protein	BrainSpLMD|3836;Eurexp|euxassay_004798|adenohypophysis, adrenal gland, bladder, choroid invagination, conjunctival sac, epidermis, epithelium, inner ear, liver, lung, metanephros, midgut, naso-lacrimal duct, olfactory, pancreas, pericardium, pharyngo-tympanic tube, rectum, respiratory, stomach, submandibular gland primordium, thyroid, trachea, trigeminal V, urethra, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|600686
nIN5	ZNF506	0.436872735	0.007624044	Transcription factor	BrainSpLMD|440515	
nIN5	HNRNPA1P4	0.39688701	0.007972644			
nIN5	DHX29	0.526652217	0.007982743	RNA helicase	BrainSpLMD|54505	OMIM|612720
nIN5	ELMO2	0.863879028	0.008110284	Unclassified	BrainSpLMD|63916	OMIM|606421;HPO|63916|Autosomal recessive inheritance, Elevated alkaline phosphatase, Gingival bleeding, Proptosis, Umbilical hernia, Visual loss
nIN5	TNKS2	0.334731708	0.00850378	Enzyme: Ribosyltransferase	BrainSpLMD|80351;Eurexp|euxassay_008543|vibrissa	OMIM|607128
nIN5	RIN2	0.39645057	0.008530982	Guanine nucleotide exchange factor	BrainSpLMD|54453	OMIM|610222;HPO|54453|Abnormality of the sternum, Alopecia, Autosomal recessive inheritance, Bruising susceptibility, Coarse facial features, Cognitive impairment, Cutis laxa, Decreased body weight, Downslanted palpebral fissures, Eclabion, Gingival overgrowth, High palate, High pitched voice, Hirsutism, Hyperextensible skin, Infra-orbital fold, Irregular dentition, Joint hypermobility, Long philtrum, Muscular hypotonia, Palpebral edema, Pes planus, Prolonged bleeding time, Redundant skin, Scoliosis, Short stature, Sparse and thin eyebrow, Sparse hair, Sparse scalp hair, Thick lower lip vermilion, Umbilical hernia, Upper eyelid edema
nIN5	SRSF3	0.658300747	0.008590302	RNA binding protein	BrainSpLMD|6428	OMIM|603364;COSMIC||follicular lymphoma
nIN5	IMMT	0.492487216	0.009019603	Motor protein	BrainSpLMD|10989;Eurexp|euxassay_010967|adrenal gland, axial muscle, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, mantle layer, metanephros, midgut, pancreas, primitive seminiferous tubules, right lung, stomach, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, vagus X, vibrissa	OMIM|600378
nIN5	KIAA1841	1.018397228	0.009128528	Unclassified	BrainSpLMD|84542;Eurexp|euxassay_014689|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
nIN5	KDM6B	0.556679787	0.009146421	Unclassified	BrainSpLMD|23135	SFARI||Autism, 3 - Suggestive evidence;OMIM|611577
nIN5	DAPK1	1.052626624	0.009192506	Serine/threonine kinase	BrainSpLMD|1612	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600831
nIN5	TTBK2	0.590536324	0.009198512	Protease	BrainSpLMD|146057;Eurexp|euxassay_010933|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X	OMIM|611695;HPO|146057|Adult onset, Autosomal dominant inheritance, Cerebellar atrophy, Difficulty walking, Dysarthria, Dysphagia, Gait imbalance, Horizontal nystagmus, Hyperreflexia, Jerky ocular pursuit movements, Nystagmus, Progressive cerebellar ataxia, Vertical nystagmus
nIN5	TBCK	0.347719677	0.00939838	Unclassified	BrainSpLMD|93627	OMIM|616899;HPO|93627|Abnormality of the periventricular white matter, Autosomal recessive inheritance, Brain atrophy, Bulbous nose, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral atrophy, Coarse facial features, Congenital onset, Dysplastic corpus callosum, Encephalopathy, Hypoplasia of the corpus callosum, Hyporeflexia, Narrow forehead, Poor speech, Prominent nasal bridge, Sloping forehead, Small basal ganglia, Tented upper lip vermilion, Thick vermilion border, Variable expressivity
nIN5	ARL4C	0.607342374	0.009448247	GTPase	BrainSpLMD|10123;Eurexp|euxassay_016423|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII	OMIM|604787
nIN5	SPATS2	0.592912988	0.00950171	Unclassified	BrainSpLMD|65244	OMIM|611667
nIN5	PHF20L1	0.494138097	0.009540432	Unclassified	BrainSpLMD|51105	
nIN5	SPCS2	0.410130661	0.009566128	Protease		
nIN5	PUM2	0.553291024	0.009620098	RNA binding protein	BrainSpLMD|23369	OMIM|607205
nIN5	RBM17	0.665535025	0.009742404	RNA binding protein	BrainSpLMD|84991	OMIM|606935
nIN5	TCEB3	0.860333751	0.009777541			
nIN5	SPEN	0.772284102	0.009812675	Transcription regulatory protein	BrainSpLMD|23013;BrainSpMouseDev|35661	OMIM|613484;COSMIC||SMZL, adenoid cystic carcinoma, DLBCL
nIN5	CCNT2	0.533991143	0.009888598	Transcription regulatory protein	BrainSpLMD|905	OMIM|603862
Endothelial	SELE	6.773981061	0	Adhesion molecule	BrainSpLMD|6401	OMIM|131210
Endothelial	TM4SF18	6.549035057	0	Integral membrane protein	BrainSpLMD|116441	
Endothelial	PECAM1	6.545070962	0	Adhesion molecule	BrainSpLMD|5175;Eurexp|euxassay_014287|mesenchyme	OMIM|173445
Endothelial	APLNR	6.311729788	0	G protein coupled receptor	BrainSpLMD|187	OMIM|600052
Endothelial	SDPR	6.237217231	0			
Endothelial	GIMAP7	6.13939328	0	GTPase	BrainSpLMD|168537	OMIM|616961
Endothelial	VWF	5.99414976	0	Coagulation factor	BrainSpLMD|7450;Eurexp|euxassay_012974|cardiovascular system, liver	OMIM|613160;HPO|7450|Aortic valve stenosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Bruising susceptibility, Epistaxis, Gastrointestinal angiodysplasia, Gastrointestinal hemorrhage, Impaired platelet aggregation, Incomplete penetrance, Joint hemorrhage, Menorrhagia, Mitral valve prolapse, Persistent bleeding after trauma, Prolonged bleeding time, Prolonged whole-blood clotting time, Reduced factor VIII activity, Reduced von Willebrand factor activity, Thrombocytopenia, Variable expressivity
Endothelial	ITM2A	5.915616763	0	Integral membrane protein	BrainSpLMD|9452	OMIM|300222
Endothelial	CDH5	5.908413489	0	Adhesion molecule	BrainSpLMD|1003;Eurexp|euxassay_019743|embryo;BrainSpMouseDev|12347	OMIM|601120
Endothelial	MYCT1	5.851429964	0	Cell cycle control protein	BrainSpLMD|80177	OMIM|616805
Endothelial	CETP	5.781323221	0	Transport/cargo protein	BrainSpLMD|1071	OMIM|118470;HPO|1071|Autosomal dominant inheritance, Hypercholesterolemia, Hyperlipidemia, Hypotriglyceridemia, Increased circulating high-density lipoprotein levels
Endothelial	EMCN	5.741885302	0	Unclassified	BrainSpLMD|51705;Eurexp|euxassay_012119|embryo	OMIM|608350
Endothelial	GPR116	5.712812869	0			
Endothelial	FLT1	5.684859749	0	Receptor tyrosine kinase	BrainSpLMD|2321;Eurexp|euxassay_010387|embryo;BrainSpMouseDev|14031	SFARI||Autism, 5 - Hypothesized but untested;OMIM|165070
Endothelial	CD34	5.620440701	0	Adhesion molecule	BrainSpLMD|947;Eurexp|euxassay_000612|adrenal gland, calyces, epidermis, epithelium, foregut-midgut junction, hindgut, lower jaw, lung, mesenchyme, midgut, oral epithelium, pharyngo-tympanic tube, testis, tongue, vertebral axis muscle system	OMIM|142230
Endothelial	ABCG2	5.602686167	0	Transport/cargo protein	BrainSpLMD|9429	OMIM|603756
Endothelial	SLCO1A2	5.565666204	0	Membrane transport protein	BrainSpLMD|6579;Eurexp|euxassay_012154|choroid invagination, choroid plexus, lateral recess, roof plate, saccule, submandibular gland primordium, thymus primordium, utricle, ventricular layer	OMIM|602883
Endothelial	TM4SF1	5.533815781	0	Integral membrane protein	BrainSpLMD|4071;Eurexp|euxassay_011928|aorta, cardiovascular system, endocardial tissue, floor plate, floorplate	OMIM|191155
Endothelial	GIMAP4	5.53122792	0	GTPase	BrainSpLMD|55303	OMIM|608087
Endothelial	ABCB1	5.398903555	0	Transport/cargo protein	BrainSpLMD|5243	OMIM|171050
Endothelial	EDN1	5.343509732	0	Peptide hormone	BrainSpLMD|1906;Eurexp|euxassay_008867|cochlea, epidermis, mantle layer, mesenchyme, midgut, rectum, stomach, trigeminal V, utricle, vibrissa	OMIM|131240;HPO|1906|Autosomal dominant inheritance, Autosomal recessive inheritance, Bifid uvula, Full cheeks, Glossoptosis, Laryngeal cleft, Micrognathia, Question mark ear, Retrognathia
Endothelial	ESAM	5.24475626	0	Immunoglobulin	BrainSpLMD|90952;Eurexp|euxassay_012134|embryo	OMIM|614281
Endothelial	GBP4	5.24249193	0	GTPase activating protein	BrainSpLMD|115361	OMIM|612466
Endothelial	SERPINE1	5.236893123	0	Protease inhibitor	BrainSpLMD|5054;Eurexp|euxassay_012476|aorta	SFARI||Autism, No category;OMIM|173360;HPO|5054|Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital onset, Menorrhagia
Endothelial	ENG	5.224908491	0	Cell surface receptor	BrainSpLMD|2022;BrainSpMouseDev|13583	OMIM|131195;HPO|2022|Anemia, Arteriovenous fistulas of celiac and mesenteric vessels, Autosomal dominant inheritance, Brain abscess, Cavernous hemangioma, Cerebral arteriovenous malformation, Cerebral hemorrhage, Cholecystitis, Cirrhosis, Clubbing, Conjunctival telangiectasia, Cyanosis, Dilatation of celiac artery, Dilatation of mesenteric artery, Dyspnea, Epistaxis, Fingerpad telangiectases, Gastrointestinal angiodysplasia, Gastrointestinal arteriovenous malformation, Gastrointestinal telangiectasia, Hematemesis, Hematochezia, Hepatic arteriovenous malformation, Heterogeneous, High-output congestive heart failure, Ischemic stroke, Lip telangiectasia, Melena, Microcytic anemia, Migraine, Nail bed telangiectasia, Nasal mucosa telangiectasia, Palate telangiectasia, Polycythemia, Portal hypertension, Pulmonary arteriovenous malformation, Right-to-left shunt, Seizures, Spinal arteriovenous malformation, Spontaneous hematomas, Spontaneous, recurrent epistaxis, Subarachnoid hemorrhage, Telangiectasia of the skin, Tongue telangiectasia, Transient ischemic attack, Venous varicosities of celiac and mesenteric vessels, Visceral angiomatosis
Endothelial	BCL6B	5.221378697	0	Transcription regulatory protein	BrainSpLMD|255877	OMIM|608992
Endothelial	CD93	5.150942872	0	Complement protein	BrainSpLMD|22918	OMIM|120577
Endothelial	ICAM2	5.132281185	0	Adhesion molecule	BrainSpLMD|3384;BrainSpMouseDev|15669	OMIM|146630
Endothelial	KDR	5.111219561	0	Receptor tyrosine kinase	BrainSpLMD|3791;BrainSpMouseDev|16315	OMIM|191306;COSMIC||NSCLC, angiosarcoma, melanoma;HPO|3791|Autosomal dominant inheritance, Capillary hemangiomas
Endothelial	RP11.693N9.2	5.029649726	0			
Endothelial	PROCR	4.992345187	0	Immunoglobulin	BrainSpLMD|10544	OMIM|600646
Endothelial	SHE	4.955202459	0	Unclassified	Eurexp|euxassay_010783|mesenchyme	OMIM|610482
Endothelial	FOXF1	4.89213949	0	Transcription factor	BrainSpLMD|2294;Eurexp|euxassay_019516|axial skeleton, bladder, hindgut, incisor, lung, midgut, molar, oesophagus, stomach, submandibular gland primordium, urethra, vibrissa;BrainSpMouseDev|15003	OMIM|601089;HPO|2294|Abnormal lung lobation, Abnormality of the pulmonary veins, Annular pancreas, Autosomal dominant inheritance, Autosomal recessive inheritance, Duodenal atresia, Hydronephrosis, Hydroureter, Hypertension, Hypoplastic left heart, Intestinal malrotation, Meckel diverticulum, Neonatal death, Patent ductus arteriosus, Polyhydramnios, Pulmonary arterial hypertension, Pulmonary insufficiency, Respiratory distress, Right-to-left shunt
Endothelial	ELTD1	4.875684961	0			
Endothelial	TEK	4.858168371	0	Receptor tyrosine kinase	BrainSpLMD|7010;BrainSpMouseDev|21447	OMIM|600221;HPO|7010|Abnormality of coagulation, Abnormality of the mouth, Arteriovenous malformation, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone pain, Cavernous hemangioma, Glaucoma, Intestinal bleeding, Megalocornea, Nevus flammeus, Primary congenital glaucoma, Prolonged bleeding time, Retinal detachment, Skin rash, Subcutaneous nodule, Venous malformation, Visceral angiomatosis, Volvulus
Endothelial	GIMAP6	4.851079919	0	GTPase	BrainSpLMD|474344	OMIM|616960
Endothelial	SLC38A5	4.834425682	0	Transport/cargo protein	BrainSpLMD|92745;Eurexp|euxassay_019707|bladder, brain, forebrain, lobe, lung, pancreas, pericardium, spinal cord	OMIM|300649
Endothelial	MMRN1	4.812954997	0	Secreted polypeptide	BrainSpLMD|22915;Eurexp|euxassay_009396|associated mesenchyme, lateral wall, meninges, mesenchyme	OMIM|601456
Endothelial	TNFSF10	4.808184494	0	Ligand	BrainSpLMD|8743	OMIM|603598
Endothelial	CAV1	4.802335195	0	Structural protein	BrainSpLMD|857	OMIM|601047;HPO|857|Abnormality of skin pigmentation, Abnormality of the face, Absence of subcutaneous fat, Acanthosis nigricans, Accelerated skeletal maturation, Arthralgia, Arthritis, Autoimmunity, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Bone cyst, Broad foot, Carious teeth, Clonus, Congenital cataract, Decreased adipose tissue around neck, Diabetes mellitus, Distal sensory impairment, Dysmetria, Dyspareunia, Dysphagia, Dyspnea, Flexion contracture, Gait ataxia, Gastroesophageal reflux, Generalized hirsutism, Glucose intolerance, Growth hormone excess, Hepatic failure, Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Hirsutism, Hypercholesterolemia, Hyperhidrosis, Hyperinsulinemia, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Hypocalcemia, Hypopigmented skin patches, Incomplete penetrance, Increased pulmonary vascular resistance, Insulin resistance, Intellectual disability, Lack of facial subcutaneous fat, Large hands, Lipoatrophy, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Lower limb muscle weakness, Malabsorption, Mandibular prognathia, Mucosal telangiectasiae, Muscle weakness, Narrow foramen obturatorium, Nausea and vomiting, Nystagmus, Oliguria, Orthostatic hypotension, Osteolysis, Pancreatitis, Pigmentary retinopathy, Precocious puberty, Prominent supraorbital ridges, Pulmonary arterial hypertension, Pulmonary fibrosis, Pulmonary infiltrates, Reduced subcutaneous adipose tissue, Short stature, Skeletal muscle hypertrophy, Skin ulcer, Telangiectasia of the skin, Variable expressivity, Xerostomia
Endothelial	EPAS1	4.800257153	0	Transcription factor	BrainSpLMD|2034;Eurexp|euxassay_003082|adrenal gland, calyces, embryo, limb, vertebral axis muscle system;BrainSpMouseDev|13597	OMIM|603349;COSMIC||paraganglioma, pheochromocytoma, central nervous system hemangioblastomas, type 3 familial erythrocytosis;HPO|2034|Autosomal dominant inheritance, Increased hematocrit, Increased hemoglobin
Endothelial	ERG	4.782496918	0	Transcription factor	BrainSpLMD|2078;Eurexp|euxassay_019466|axial skeleton, cricoid, exoccipital bone, hindgut, lung, mesenchyme, metanephros, metatarsus, midgut, nasal septum, otic capsule, pericardium, phalanx, stomach, temporal bone, thyroid, trachea, trigeminal V, turbinate bones, urethra, ventricular layer, vibrissa;BrainSpMouseDev|13654	SFARI||Autism, 4 - Minimal evidence;OMIM|165080;COSMIC||Ewing sarcoma, prostate, AML
Endothelial	ROBO4	4.771914696	0	Adhesion molecule	BrainSpLMD|54538	OMIM|607528
Endothelial	PCAT19	4.762814207	0			
Endothelial	MMRN2	4.727289894	0	Extracellular matrix protein	BrainSpLMD|79812;Eurexp|euxassay_009955|embryo, midgut	OMIM|608925
Endothelial	TGFBR2	4.711338868	0	Receptor serine/threonine kinase	BrainSpLMD|7048;BrainSpMouseDev|21572	OMIM|190182;COSMIC||head and neck, colorectal, colorectal, Loeys-Dietz syndrome 2;HPO|7048|Abdominal pain, Abnormality of the iris, Abnormality of the sternum, Abnormality of the voice, Anxiety, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Arachnodactyly, Arterial dissection, Arterial tortuosity, Ascending aortic dissection, Attention deficit hyperactivity disorder, Atypical scarring of skin, Autosomal dominant inheritance, Bifid uvula, Blue sclerae, Brachydactyly, Camptodactyly, Camptodactyly of finger, Cardiomegaly, Chest pain, Clinodactyly of the 5th toe, Colon cancer, Constipation, Coronary artery disease, Cough, Craniosynostosis, Cutis marmorata, Cystic medial necrosis of the aorta, Death in early adulthood, Death in infancy, Depressivity, Dermal translucency, Descending aortic dissection, Dilatation of ascending aorta, Esophageal carcinoma, Exertional dyspnea, Exotropia, Fatigue, Feeding difficulties in infancy, Gastrointestinal hemorrhage, Generalized arterial tortuosity, Glioblastoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, High palate, Hypertelorism, Hypertension, Hypertonia, Increased intracranial pressure, Irritability, Joint contracture of the hand, Joint laxity, Left ventricular failure, Malabsorption, Malar flattening, Micrognathia, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Oral cleft, Paroxysmal dyspnea, Patent ductus arteriosus, Pes planus, Proptosis, Pulmonary artery aneurysm, Retrognathia, Scoliosis, Seizures, Squamous cell carcinoma, Striae distensae, Talipes equinovarus, Tall stature, Uterine rupture, Weight loss
Endothelial	IFI27	4.697715421	0	Unclassified	BrainSpLMD|3429	OMIM|600009
Endothelial	APOLD1	4.683072004	0	Unclassified	BrainSpLMD|81575;Eurexp|euxassay_014175|ventricle	OMIM|612456
Endothelial	PRKCH	4.676740524	0	Serine/threonine kinase	BrainSpLMD|5583	OMIM|605437
Endothelial	XAF1	4.596099374	0	Ubiquitin proteasome system protein	BrainSpLMD|54739	OMIM|606717
Endothelial	EFNA1	4.579437587	0	Ligand	BrainSpLMD|1942;Eurexp|euxassay_003508|left lung, pharyngo-tympanic tube, right lung, vibrissa;BrainSpMouseDev|13414	OMIM|191164
Endothelial	IGFBP7	4.54433656	0	Adhesion molecule	BrainSpLMD|3490;BrainSpMouseDev|29552	OMIM|602867;HPO|3490|Autosomal recessive inheritance, Exudative retinal detachment, Pulmonic stenosis, Retinal arterial macroaneurysms
Endothelial	GNG11	4.516828613	0	G protein	BrainSpLMD|2791	OMIM|604390
Endothelial	ECSCR	4.48930493	0	Unclassified		OMIM|615736
Endothelial	CXorf36	4.480244295	0	Unclassified	BrainSpLMD|79742	OMIM|300959
Endothelial	SOX7	4.464378153	0	Transcription regulatory protein	BrainSpLMD|83595;BrainSpMouseDev|20442	OMIM|612202
Endothelial	ARHGAP29	4.402853622	0	GTPase activating protein	BrainSpLMD|9411;Eurexp|euxassay_002013|meninges, oral epithelium	OMIM|610496
Endothelial	CASP4	4.385435297	0	Cysteine protease	BrainSpLMD|837;Eurexp|euxassay_006935|diaphragm, left lung, right lung, thymus primordium, ventricle	OMIM|602664
Endothelial	RASGRP3	4.357126053	0	Guanine nucleotide exchange factor	BrainSpLMD|25780;Eurexp|euxassay_006926|thymus primordium	OMIM|609531
Endothelial	CAV2	4.325143666	0	Integral membrane protein	BrainSpLMD|858	OMIM|601048
Endothelial	TGM2	4.322893726	0	Enzyme: Aminotransferase	BrainSpLMD|7052;Eurexp|euxassay_011707|Meckel's cartilage, basioccipital bone, basisphenoid bone, bladder, calyces, clavicle, liver, meninges, mesentery, mesothelium, midgut, naris, nasal septum, olfactory, orbito-sphenoid, otic capsule, pelvis, petrous part, renal/urinary system, stomach, turbinate bones, ureter, ventricle	OMIM|190196
Endothelial	VAMP5	4.322784056	0	Membrane transport protein	BrainSpLMD|10791	OMIM|607029
Endothelial	AFAP1L1	4.317606094	0	Unclassified	BrainSpLMD|134265;Eurexp|euxassay_007614|diaphragm, lung, ventricle, vertebral axis muscle system	OMIM|614410
Endothelial	LRRC36	4.301417818	0	Unclassified	BrainSpLMD|55282	
Endothelial	CASP10	4.292956254	0	Cysteine protease	BrainSpLMD|843	OMIM|601762;HPO|843|Antineutrophil antibody positivity, Antinuclear antibody positivity, Antiphospholipid antibody positivity, Autoimmune hemolytic anemia, Autoimmune neutropenia, Autoimmune thrombocytopenia, Autosomal dominant inheritance, Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Decreased lymphocyte apoptosis, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Eosinophilia, Follicular hyperplasia, Hepatomegaly, Increase in B cell number, Increased IgA level, Increased IgG level, Increased IgM level, Increased proportion of HLA DR+ and CD57+ T cells, Iron deficiency anemia, Juvenile onset, Lymphoma, Malar rash, Nephritis, Nephrotic syndrome, Platelet antibody positive, Reduced delayed hypersensitivity, Rheumatoid factor positive, Smooth muscle antibody positivity, Somatic mutation, Splenomegaly, Stomach cancer, Urticaria, Vasculitis
Endothelial	FLVCR2	4.287465735	0	Integral membrane protein	BrainSpLMD|55640	OMIM|610865;HPO|55640|Abnormality of metabolism/homeostasis, Agenesis of corpus callosum, Autosomal recessive inheritance, Cerebellar hypoplasia, Dandy-Walker malformation, Flexion contracture, Hydranencephaly, Hydrocephalus, Hypoplasia of the brainstem, Intrauterine growth retardation, Micrognathia, Polyhydramnios, Premature birth
Endothelial	CGNL1	4.279017338	0	Unclassified	BrainSpLMD|84952;Eurexp|euxassay_012420|molar, sublingual gland primordium	SFARI||Autism, 3 - Suggestive evidence;OMIM|607856
Endothelial	MECOM	4.253812103	0	DNA binding protein	BrainSpLMD|2122	OMIM|165215;COSMIC||AML, CML, MDS;HPO|2122|Amegakaryocytic thrombocytopenia, Anemia, Autosomal dominant inheritance, Clinodactyly of the 5th finger, Congenital thrombocytopenia, Hydrocele testis, Limited pronation/supination of forearm, Neutropenia, Overlapping fingers, Radioulnar synostosis, Thrombocytopenia
Endothelial	C1orf54	4.242915397	0	Unclassified	BrainSpLMD|79630	
Endothelial	APLN	4.241325513	0	Ligand	BrainSpLMD|8862;Eurexp|euxassay_003400|axial muscle, brain, hindgut, lung, mesenchyme, metanephros, midgut, pancreas, penis, pericardium, skeletal muscle, stomach, testis	OMIM|300297
Endothelial	RNF144B	4.228515285	0	Ubiquitin proteasome system protein	BrainSpLMD|255488;Eurexp|euxassay_001593|Meckel's cartilage, basisphenoid bone, bladder, exoccipital bone, frontal bone primordium, incisor, molar, neural retina, oral epithelium, orbito-sphenoid, otic capsule, pectoral girdle and thoracic body wall, rib, tongue, turbinate, vault of skull, ventricular layer, vibrissa	
Endothelial	MFSD2A	4.223621623	0	Unclassified	BrainSpLMD|84879;Eurexp|euxassay_005155|brain, footplate, handplate, incisor, molar, olfactory, pharyngo-tympanic tube, respiratory, spinal cord, submandibular gland primordium, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|614397;HPO|84879|Abnormal cortical bone morphology, Absent speech, Agenesis of corpus callosum, Autosomal recessive inheritance, Cerebellar hypoplasia, Congenital onset, Generalized hypotonia, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Inability to walk, Intellectual disability, severe, Microcephaly, Pachygyria, Progressive, Progressive microcephaly, Seizures, Short stature, Sloping forehead, Spastic gait, Spastic tetraparesis, Talipes equinovarus, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
Endothelial	MARVELD2	4.220982299	0	Unclassified	Eurexp|euxassay_003022|bladder, calyces, foregut-midgut junction, hindgut, midgut, nasal capsule, olfactory, pancreas, pelvis, pituitary, rectum, stomach, urethra	OMIM|610572;HPO|153562|Autosomal recessive inheritance, Prelingual sensorineural hearing impairment
Endothelial	FLI1	4.208611122	0	Transcription factor	BrainSpLMD|2313;Eurexp|euxassay_019453|liver;BrainSpMouseDev|14024	OMIM|193067;COSMIC||Ewing sarcoma;HPO|2313|Abnormal form of the vertebral bodies, Abnormality of the cardiovascular system, Anteverted nares, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Attention deficit hyperactivity disorder, Bone marrow hypocellularity, Broad columella, Broad hallux phalanx, Constipation, Cryptorchidism, Downslanted palpebral fissures, Epicanthus, Facial asymmetry, Feeding difficulties in infancy, Finger syndactyly, Frontal bossing, Global developmental delay, High forehead, Hypertelorism, Intellectual disability, Long hallux, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Microcornea, Missing ribs, Pes planus, Premature birth, Ptosis, Recurrent respiratory infections, Short neck, Short nose, Short stature, Short toe, Smooth philtrum, Strabismus, Thrombocytopenia, Toe clinodactyly, Toe syndactyly, Ventricular septal defect, Ventriculomegaly
Endothelial	CA2	4.200389623	0	Enzyme: Carbonic anhydrase	BrainSpLMD|760;Eurexp|euxassay_018564|Meckel's cartilage, bladder, choroid plexus, cochlear duct, fundus region, incisor, lateral recess, lobe, lumen, lung, molar, rectum;BrainSpMouseDev|12134	OMIM|611492;HPO|760|Abnormality of dental morphology, Abnormality of epiphysis morphology, Abnormality of the renal tubule, Anemia, Aseptic necrosis, Autosomal recessive inheritance, Basal ganglia calcification, Bone pain, Carious teeth, Cerebral calcification, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, Distal renal tubular acidosis, Elevated serum acid phosphatase, Extramedullary hematopoiesis, Failure to thrive, Genu valgum, Global developmental delay, Hepatomegaly, Hepatosplenomegaly, Intellectual disability, Mandibular prognathia, Optic nerve compression, Osteopetrosis, Periodic hypokalemic paresis, Peripheral neuropathy, Recurrent fractures, Reduced bone mineral density, Short stature, Splenomegaly, Thrombocytopenia, Visual loss
Endothelial	DSP	4.173700151	0	Cytoskeletal protein	BrainSpLMD|1832;Eurexp|euxassay_006313|atrium, calyces, conjunctival sac, epidermis, epithelium, incisor, lung, midgut, molar, naris, naso-lacrimal duct, olfactory, oral epithelium, pancreas, pelvis, pharyngo-tympanic tube, primitive seminiferous tubules, rectum, stomach, submandibular gland primordium, thymus primordium, urethra, ventricle, vibrissa;BrainSpMouseDev|73778	OMIM|125647;HPO|1832|Abnormality of the cardiovascular system, Abnormality of the hair, Abnormality of the nail, Acantholysis, Alopecia, Alopecia universalis, Anonychia, Aplasia cutis congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital bullous ichthyosiform erythroderma, Congestive heart failure, Dilated cardiomyopathy, Failure to thrive, Fragile skin, Gingival recession, Heterogeneous, Mitten deformity, Nail dysplasia, Nail dystrophy, Natal tooth, Neonatal death, Oral mucosal blisters, Palmoplantar keratoderma, Palmoplantar keratosis with erythema and scale, Parakeratosis, Patchy palmoplantar keratoderma, Phimosis, Reduced number of teeth, Right ventricular cardiomyopathy, Sandal gap, Skin erosion, Sparse and thin eyebrow, Sparse eyelashes, Sudden cardiac death, Tapered distal phalanges of finger, Ventricular extrasystoles, Ventricular fibrillation, Ventricular tachycardia, Widely spaced toes, Woolly hair
Endothelial	GATA2	4.162362631	0	Transcription factor	BrainSpLMD|2624;BrainSpMouseDev|14237	OMIM|137295;COSMIC||AML (CML blast transformation);HPO|2624|Abnormal natural killer morphology, Autosomal dominant inheritance, Cellulitis, Immunodeficiency, Lymphedema, Monocytopenia, Myelodysplasia, Neutropenia, Pancytopenia, Phenotypic variability, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral infections
Endothelial	PTRF	4.148680811	0			
Endothelial	IFITM2	4.125340983	0	Integral membrane protein	BrainSpLMD|10581;Eurexp|euxassay_003572|mantle layer, thymus primordium	OMIM|605578
Endothelial	ADM	4.102985353	0	Peptide hormone	BrainSpLMD|133	OMIM|103275
Endothelial	CALCRL	4.085453157	0	G protein coupled receptor	BrainSpLMD|10203	OMIM|114190
Endothelial	CLEC2B	4.076511048	0	Adhesion molecule	BrainSpLMD|9976	OMIM|603242
Endothelial	IGFBP4	4.073374056	0	Adhesion molecule	BrainSpLMD|3487;BrainSpMouseDev|15783	OMIM|146733
Endothelial	FXYD5	4.063736264	0	Integral membrane protein	BrainSpLMD|53827	OMIM|606669
Endothelial	EGFL7	3.998106182	0	Extracellular matrix protein	BrainSpLMD|51162;Eurexp|euxassay_012545|embryo	OMIM|608582
Endothelial	IGFBP3	3.971579665	0	Growth inhibitory factor	BrainSpLMD|3486;BrainSpMouseDev|15782	OMIM|146732
Endothelial	CLDN5	3.966048591	0	Adhesion molecule	BrainSpLMD|7122;BrainSpMouseDev|12525	OMIM|602101
Endothelial	PTPRB	3.911440159	0	Receptor tyrosine phosphatase	BrainSpLMD|5787;Eurexp|euxassay_009626|head mesenchyme, trunk mesenchyme, valve	SFARI||Autism, No category;OMIM|176882;COSMIC||angiosarcoma
Endothelial	PODXL	3.901329832	0	Integral membrane protein	BrainSpLMD|5420;Eurexp|euxassay_018851|diaphragm, metanephros, pericardial cavity, peritoneal cavity, pleural cavity	OMIM|602632
Endothelial	IFITM1	3.893333574	0	Unclassified	BrainSpLMD|8519;Eurexp|euxassay_004013|bladder, lip, midgut, olfactory, pharynx, rectum, respiratory, stomach, thymus primordium	OMIM|604456
Endothelial	HLA.E	3.889095964	0			
Endothelial	TMEM255B	3.880757461	0	Integral membrane protein	BrainSpLMD|348013;Eurexp|euxassay_013734|utricle, vagus X	
Endothelial	RASSF9	3.876903282	0	Transport/cargo protein	BrainSpLMD|9182;Eurexp|euxassay_006876|calyces, cochlear duct, epidermis, epithelium, incisor, larynx, left lung, molar, naris, oesophagus, olfactory, pelvis, respiratory, right lung, trachea, urethra, vibrissa, vomeronasal organ	OMIM|610383
Endothelial	CLIC5	3.841687308	0	Intracellular ligand gated channel	BrainSpLMD|53405;Eurexp|euxassay_006793|calyces, left lung, midgut, right lung, thymus primordium	OMIM|607293;HPO|53405|Autosomal recessive inheritance, Infantile onset, Sensorineural hearing impairment, Vestibular areflexia
Endothelial	LMO2	3.83509965	0	Transcription factor	BrainSpLMD|4005;Eurexp|euxassay_002567|lobe, neural retina, stroma;BrainSpMouseDev|16679	OMIM|180385;COSMIC||T-ALL
Endothelial	NOSTRIN	3.82997906	0	Unclassified	BrainSpLMD|115677	OMIM|607496
Endothelial	CCDC141	3.819516999	0	Unclassified	BrainSpLMD|285025	OMIM|616031;HPO|285025|Autosomal dominant inheritance, Autosomal recessive inheritance, Cryptorchidism, Decreased testicular size, Gynecomastia, Hypogonadotrophic hypogonadism, Micropenis, Primary amenorrhea, Sparse axillary hair, Sparse pubic hair
Endothelial	SHROOM4	3.781444631	0	Unclassified		OMIM|300579;HPO|57477|Bruxism, Depressed nasal bridge, Epicanthus, Gastroesophageal reflux, Global developmental delay, Hip dislocation, Hirsutism, Hyperactivity, Hypertelorism, Intellectual disability, profound, Kyphosis, Microcephaly, Scoliosis, Short foot, Short stature, Small hand, Strabismus, Talipes equinovarus, X-linked inheritance
Endothelial	SLCO2A1	3.780911035	0	Transport/cargo protein	BrainSpLMD|6578	OMIM|601460;HPO|6578|Abnormal cortical bone morphology, Abnormal hair quantity, Abnormality of epiphysis morphology, Abnormality of the fingernails, Acne, Arthralgia, Arthritis, Autosomal recessive inheritance, Bone pain, Clubbing, Clubbing of toes, Coarse facial features, Cutis gyrata of scalp, Hyperhidrosis, Joint swelling, Limitation of joint mobility, Osteolysis, Osteomyelitis, Periostosis, Ptosis, Seborrheic dermatitis
Endothelial	GGT5	3.773375889	0	Enzyme: Transferase	BrainSpLMD|2687	OMIM|137168
Endothelial	COL4A1	3.747257267	0	Extracellular matrix protein	BrainSpLMD|1282;Eurexp|euxassay_017239|choroid plexus, mesenchyme, testis;BrainSpMouseDev|12609	OMIM|120130;HPO|1282|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Absent septum pellucidum, Agenesis of corpus callosum, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Autosomal dominant inheritance, Babinski sign, Blurred vision, Cerebellar atrophy, Cerebellar hypoplasia, Chorioretinal dysplasia, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Dilatation of the cerebral artery, Elevated serum creatine phosphokinase, Exotropia, Facial paralysis, Glaucoma, Global developmental delay, Hematuria, Hemiparesis, Hemiplegia, Hemolytic anemia, Hydrocephalus, Hypopigmentation of the fundus, Hypoplasia of penis, Hyporeflexia, Intellectual disability, Ischemic stroke, Leukoencephalopathy, Limb dystonia, Lissencephaly, Macrocephaly, Macrogyria, Metatarsus valgus, Microphthalmia, Migraine with aura, Muscle cramps, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Nephropathy, Optic atrophy, Pachygyria, Polymicrogyria, Porencephalic cyst, Posterior leukoencephalopathy, Raynaud phenomenon, Renal cyst, Renal insufficiency, Retinal arteriolar tortuosity, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Retinal hemorrhage, Schizencephaly, Scotoma, Seizures, Skeletal muscle atrophy, Spasticity, Specific learning disability, Supraventricular arrhythmia, Tetraparesis, Variable expressivity, Visual field defect, Visual loss
Endothelial	PIK3R6	3.731896504	0	Unclassified		OMIM|611462
Endothelial	LXN	3.714120372	0	Enzyme regulator	BrainSpLMD|56925;Eurexp|euxassay_003277|basal plate, dorsal root ganglion, facial VII, trigeminal V, ventral grey horn, ventricular layer;BrainSpMouseDev|16805	OMIM|609305
Endothelial	GALNT18	3.707863729	0	Unclassified	BrainSpLMD|374378;Eurexp|euxassay_001578|axial skeleton, basisphenoid bone, foregut-midgut junction, hindgut, limb, midgut, oesophagus, olfactory, oral epithelium, otic capsule, pharyngo-tympanic tube, stomach, trigeminal V, turbinate	OMIM|615136
Endothelial	SLCO2B1	3.706151107	0	Membrane transport protein	BrainSpLMD|11309	OMIM|604988
Endothelial	C1orf64	3.701513204	0			
Endothelial	DOCK6	3.677368753	0	Guanine nucleotide exchange factor	BrainSpLMD|57572	OMIM|614194;HPO|57572|Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aplasia cutis congenita, Autosomal recessive inheritance, Brachydactyly, Bulbous nose, Calvarial skull defect, Cataract, Cutis marmorata, Depressed nasal bridge, Failure to thrive, Finger syndactyly, Generalized hypotonia, Global developmental delay, Hydrocephalus, Hypertelorism, Low anterior hairline, Low-set ears, Microcephaly, Micrognathia, Microphthalmia, Narrow palpebral fissure, Oligohydramnios, Pulmonary artery atresia, Seizures, Short distal phalanx of finger, Single transverse palmar crease, Small nail, Sparse hair, Split hand, Strabismus, Talipes, Tetralogy of Fallot
Endothelial	RAPGEF5	3.662040683	0	Guanine nucleotide exchange factor	BrainSpLMD|9771;BrainSpMouseDev|85296	OMIM|609527
Endothelial	ITGA5	3.661354716	0	Cell surface receptor	BrainSpLMD|3678;Eurexp|euxassay_010968|axial skeleton, bladder, midgut, oesophagus, rectum, skeletal muscle, stomach	OMIM|135620
Endothelial	KIAA1462	3.650650879	0			
Endothelial	ETS1	3.627428063	0	Transcription factor	BrainSpLMD|2113;BrainSpMouseDev|23624	OMIM|164720
Endothelial	ADCY4	3.617922455	0	Adenylate cyclase	BrainSpLMD|196883	OMIM|600292
Endothelial	SLC2A1	3.608349429	0	Membrane transport protein	BrainSpLMD|6513;Eurexp|euxassay_019681|Meckel's cartilage, axial skeleton, basisphenoid bone, brain, gut, incisor, labyrinth, lobe, lumen, meninges, mesenchyme, molar, neural retina, nucleus pulposus, olfactory, otic capsule, rectum, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, valve, ventricular layer, vestibular component, vibrissa;BrainSpMouseDev|20287	OMIM|138140;HPO|6513|Abnormality of erythrocytes, Absence seizures, Absent speech, Ataxia, Autosomal dominant inheritance, Cataract, Choreoathetosis, Confusion, Cyanosis, Delayed myelination, Delayed speech and language development, Dysarthria, Dystonia, EEG abnormality, Encephalopathy, Extrapyramidal dyskinesia, Generalized hyperreflexia, Global developmental delay, Headache, Hemiparesis, Hemolytic anemia, Hepatomegaly, Hyperactive deep tendon reflexes, Hyperreflexia, Hypoglycorrhachia, Inability to walk, Infantile onset, Intellectual disability, Jaundice, Lethargy, Microcephaly, Muscle stiffness, Nystagmus, Paralysis, Paresthesia, Paroxysmal dyskinesia, Paroxysmal involuntary eye movements, Progressive microcephaly, Seizures, Short stature, Spasticity, Splenomegaly, Status epilepticus, Torsion dystonia
Endothelial	RGCC	3.605571527	0	Cell cycle control protein	BrainSpLMD|28984;Eurexp|euxassay_007417|dorsal root ganglion, facial VII, glossopharyngeal IX, left, liver, mandible, mantle layer, marginal layer, maxilla, mesenchyme, right, thymus primordium, thyroid, trigeminal V, ventral grey horn, ventricular layer	OMIM|610077
Endothelial	TCN2	3.598352097	0	Transport/cargo protein	BrainSpLMD|6948;Eurexp|euxassay_006199|calyces	OMIM|613441;HPO|6948|Abnormality of chromosome stability, Abnormality of the mouth, Acute kidney injury, Ataxia, Autosomal recessive inheritance, Diarrhea, Failure to thrive, IgA deficiency, IgG deficiency, IgM deficiency, Intellectual disability, Irritability, Lethargy, Lymphopenia, Macrocytic anemia, Megaloblastic bone marrow, Methylmalonic aciduria, Muscle weakness, Neutropenia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Vomiting
Endothelial	SPINK8	3.586873	0	Unclassified		
Endothelial	SPARCL1	3.580478393	0	Secreted polypeptide	BrainSpLMD|8404	SFARI||Autism, 3 - Suggestive evidence;OMIM|606041
Endothelial	SLC38A3	3.579751419	0	Membrane transport protein	BrainSpLMD|10991;Eurexp|euxassay_019715|brain, lung, pancreas, pericardium, spinal cord	OMIM|604437
Endothelial	GIMAP8	3.56479919	0	GTPase	BrainSpLMD|155038	OMIM|616962
Endothelial	ZNF366	3.561777588	0	DNA binding protein	BrainSpLMD|167465	OMIM|610159
Endothelial	LMCD1	3.558536722	0	Unclassified	BrainSpLMD|29995;Eurexp|euxassay_002078|diaphragm, head mesenchyme, lip, oral epithelium, tongue, turbinate bones, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|29927	OMIM|604859
Endothelial	DLL4	3.542473243	0	Ligand	BrainSpLMD|54567;BrainSpMouseDev|33776	OMIM|605185;HPO|54567|Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aplasia cutis congenita, Aplasia cutis congenita of scalp, Aplasia cutis congenita over the scalp vertex, Autosomal dominant inheritance, Brachydactyly, Calvarial skull defect, Cataract, Congenital localized absence of skin, Cutis marmorata, Failure to thrive, Finger syndactyly, Foot oligodactyly, Hydrocephalus, Microphthalmia, Pulmonary artery atresia, Short distal phalanx of finger, Skin ulcer, Sparse hair, Spinal dysraphism, Split hand, Strabismus, Syndactyly, Talipes, Tetralogy of Fallot, Tricuspid regurgitation, Truncus arteriosus, Ventricular septal defect
Endothelial	A2M	3.541416079	0	Protease inhibitor	BrainSpLMD|2;Eurexp|euxassay_008556|adrenal gland, choroid plexus, lobe, lung, meninges, mesenchyme, neural retina, ventricular layer, vibrissa;BrainSpMouseDev|87409	OMIM|103950;HPO|2|Autosomal dominant inheritance
Endothelial	LAMA4	3.537353537	0	Adhesion molecule	BrainSpLMD|3910;Eurexp|euxassay_013553|lip, nasal cavity	OMIM|600133;HPO|3910|Autosomal dominant inheritance, Dilated cardiomyopathy
Endothelial	SLFN5	3.533740871	0	Unclassified	BrainSpLMD|162394	OMIM|614952
Endothelial	ITGA1	3.516129791	0	Cell surface receptor	BrainSpLMD|3672	OMIM|192968
Endothelial	IFITM3	3.515302539	0	Integral membrane protein	BrainSpLMD|10410;Eurexp|euxassay_004558|pancreas, submandibular gland primordium, thymus primordium	OMIM|605579
Endothelial	ID3	3.501140762	0	Transcription regulatory protein	BrainSpLMD|3399;BrainSpMouseDev|15676	OMIM|600277;COSMIC||Burkitt lymphoma
Endothelial	TBX3	3.488966097	0	Transcription regulatory protein	BrainSpLMD|6926;Eurexp|euxassay_010709|bladder, calyces, cochlea, endolymphatic duct, epithelium, hypothalamus, left lung, medulla, midgut, penis, right lung, skin, stomach, trachea, trigeminal V, utricle, vagus X, vibrissa;BrainSpMouseDev|21147	OMIM|601621;COSMIC||breast, large intestine, skin, ulnar-mammary syndrome;HPO|6926|Absent radius, Anal atresia, Anal stenosis, Anterior pituitary hypoplasia, Aplasia of the ulna, Autosomal dominant inheritance, Axillary apocrine gland hypoplasia, Breast hypoplasia, Deformed radius, Delayed puberty, Ectopic posterior pituitary, Hypodontia, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic nipples, Hypoplastic scapulae, Imperforate hymen, Inguinal hernia, Inverted nipples, Micropenis, Obesity, Postaxial hand polydactyly, Pyloric stenosis, Shawl scrotum, Short 4th toe, Short 5th toe, Short clavicles, Short humerus, Sparse axillary hair, Sparse lateral eyebrow, Subglottic stenosis, Ventricular septal defect
Endothelial	APCDD1	3.468712749	0	Unclassified	BrainSpLMD|147495	OMIM|607479;HPO|147495|Alopecia, Autosomal dominant inheritance, Autosomal recessive inheritance, Hypotrichosis, Hypotrichosis of the scalp, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes
Endothelial	CFH	3.449546438	0	Regulatory/other subunit	BrainSpLMD|3075;Eurexp|euxassay_008425|bladder, clavicle, cortex, femur, fibula, humerus, mandible, mantle layer, maxilla, medulla, medullary stroma, meninges, mesenchyme, orbito-sphenoid, rib, scapula, thymus primordium, tibia, trabeculae carneae	OMIM|134370;HPO|3075|Autosomal dominant inheritance, Autosomal recessive inheritance, Chronic kidney disease, Decreased serum complement factor H, Depletion of components of the alternative complement pathway, Glomerular subendothelial electron-dense deposits, Hematuria, Juvenile onset, Phenotypic variability, Progressive visual loss, Recurrent bacterial infections, Thickening of the glomerular basement membrane
Endothelial	CD109	3.447051149	0	Unclassified	BrainSpLMD|135228;BrainSpMouseDev|88069	OMIM|608859
Endothelial	ELK3	3.430089858	0	Transcription factor	BrainSpLMD|2004;Eurexp|euxassay_019463|mesenchyme;BrainSpMouseDev|13491	OMIM|600247
Endothelial	MMP25	3.419085563	0	Metallo protease	BrainSpLMD|64386;Eurexp|euxassay_009395|trigeminal V	OMIM|608482
Endothelial	TIE1	3.415926036	0	Receptor tyrosine kinase	BrainSpLMD|7075;BrainSpMouseDev|21605	OMIM|600222
Endothelial	TMEM88	3.414392001	0	Integral membrane protein		
Endothelial	LEF1	3.413331457	0	Transcription factor	BrainSpLMD|51176;BrainSpMouseDev|16613	OMIM|153245;COSMIC||B-ALL, T-ALL, eyelid sebaceous carcinoma, AML, lymphomas
Endothelial	PLA2G16	3.413090578	0	Unclassified	BrainSpLMD|11145	OMIM|613867
Endothelial	ABLIM1	3.407252459	0	Cytoskeletal associated protein	BrainSpLMD|3983	OMIM|602330
Endothelial	SLC39A8	3.404870343	0	Membrane transport protein	BrainSpLMD|64116;Eurexp|euxassay_011277|brain, cochlea, glomeruli, incisor, lobe, lung, meninges, midgut, olfactory, renal/urinary system, saccule, spinal cord, thymus primordium, vibrissa	OMIM|608732;HPO|64116|Astigmatism, Autosomal recessive inheritance, Cerebellar atrophy, Congenital onset, Generalized hypotonia, Global developmental delay, Inability to walk, Intellectual disability, profound, Nystagmus, Short stature, Strabismus
Endothelial	BHLHE40	3.392016652	0	Transcription factor	BrainSpLMD|8553;BrainSpMouseDev|20655	OMIM|604256
Endothelial	AFAP1L2	3.385093934	0	Adapter molecule	BrainSpLMD|84632;Eurexp|euxassay_003397|dorsal root ganglion, glossopharyngeal IX, hindgut, loop, marginal layer, medullary stroma, midgut, oesophagus, rectum, stomach, trigeminal V, ventricular layer, vestibulocochlear VIII	OMIM|612420
Endothelial	ECM1	3.38336857	0	Extracellular matrix protein	BrainSpLMD|1893	OMIM|602201;HPO|1893|Abnormal blistering of the skin, Abnormality of the gingiva, Abnormality of the skin, Acne, Aggressive behavior, Alopecia of scalp, Autosomal recessive inheritance, Bilateral intracranial calcifications, Dysphagia, Dystonia, Hallucinations, High palate, Hoarse voice, Hyperkeratosis, Memory impairment, Microglossia, Papule, Paranoia, Patchy alopecia, Pustule, Recurrent respiratory infections, Scarring, Seizures, Subcutaneous nodule, Thick lower lip vermilion, Tongue nodules, Verrucae
Endothelial	ATP10A	3.379405967	0	ATPase	BrainSpLMD|57194;BrainSpMouseDev|11768	SFARI||Autism, 3 - Suggestive evidence;OMIM|605855
Endothelial	SLC7A8	3.377075056	0	Membrane transport protein	BrainSpLMD|23428;Eurexp|euxassay_008218|renal/urinary system	OMIM|604235
Endothelial	FZD4	3.374804271	0	G protein coupled receptor	BrainSpLMD|8322;Eurexp|euxassay_018160|axial muscle, axial skeleton, calyces, head mesenchyme, mesenchyme, vertebral axis muscle system;BrainSpMouseDev|14142	OMIM|604579;HPO|8322|Autosomal dominant inheritance, Blindness, Exudative vitreoretinopathy, Falciform retinal fold, Infantile onset, Peripheral retinal avascularization, Pigmentary retinal degeneration, Posterior vitreous detachment, Premature birth, Recurrent fractures, Reduced visual acuity, Retinal detachment, Retinal exudate, Retinal neovascularization, Slow progression, Small for gestational age, Subcapsular cataract, Vitreous hemorrhage
Endothelial	COBLL1	3.365796858	0	Unclassified	BrainSpLMD|22837;Eurexp|euxassay_012201|adrenal gland, fundus, hindgut, metanephros, midgut, stomach, submandibular gland primordium, testis, thymus primordium, vibrissa	OMIM|610318
Endothelial	FOXC1	3.349734081	0	Transcription factor	BrainSpLMD|2296;Eurexp|euxassay_012742|meninges, mesenchyme, nasal cavity, nasal septum, otic capsule, submandibular gland primordium, turbinate bones;BrainSpMouseDev|17069	OMIM|601090;HPO|2296|Abnormal iris vasculature, Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Aniridia, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the macula, Atrial septal defect, Autosomal dominant inheritance, Axenfeld anomaly, Cataract, Cerebellar vermis hypoplasia, Concave nasal ridge, Ectopia pupillae, Everted lower lip vermilion, Glaucoma, Hearing impairment, Heterogeneous, Hypertelorism, Hypodontia, Hypoplasia of the iris, Hypoplastic iris stroma, Malar flattening, Microdontia, Midface retrusion, Nystagmus, Patent ductus arteriosus, Peters anomaly, Posterior embryotoxon, Proptosis, Rieger anomaly, Sensorineural hearing impairment, Visual loss
Endothelial	S100A16	3.332181413	0	Calcium binding protein	BrainSpLMD|140576;Eurexp|euxassay_004932|bladder, epidermis, hindgut, lung, medulla, metanephros, midgut, naris, oesophagus, olfactory, rectum, stomach, submandibular gland primordium, thymus primordium, urethra, ventricular layer, vibrissa	OMIM|617437
Endothelial	GMFG	3.329289069	0	Growth factor	BrainSpLMD|9535;Eurexp|euxassay_004389|thymus primordium	OMIM|604104
Endothelial	ANXA1	3.323615108	0	Calcium binding protein	BrainSpLMD|301;Eurexp|euxassay_004813|clavicle, epidermis, fundus region, left lung, mandible, oesophagus, oral epithelium, rib, right lung, stomach, submandibular gland primordium, thyroid, trachea, urethra, ventricular layer, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|151690
Endothelial	ACVRL1	3.302769257	0	Receptor serine/threonine kinase	BrainSpLMD|94;Eurexp|euxassay_004915|embryo;BrainSpMouseDev|11270	OMIM|601284;HPO|94|Anemia, Autosomal dominant inheritance, Brain abscess, Cavernous hemangioma, Cerebral arteriovenous malformation, Cerebral hemorrhage, Cholecystitis, Choriocapillaris atrophy, Cirrhosis, Clubbing, Conjunctival telangiectasia, Cyanosis, Dyspnea, Epistaxis, Fingerpad telangiectases, Gastrointestinal angiodysplasia, Gastrointestinal arteriovenous malformation, Gastrointestinal telangiectasia, Hematemesis, Hematochezia, Hepatic arteriovenous malformation, Heterogeneous, Hypertension, Ischemic stroke, Lip telangiectasia, Melena, Microcytic anemia, Migraine, Nail bed telangiectasia, Nasal mucosa telangiectasia, Palate telangiectasia, Polycythemia, Portal hypertension, Pulmonary arterial hypertension, Pulmonary arteriovenous malformation, Right-to-left shunt, Seizures, Spinal arteriovenous malformation, Spontaneous hematomas, Spontaneous, recurrent epistaxis, Subarachnoid hemorrhage, Telangiectasia of the skin, Tongue telangiectasia, Transient ischemic attack, Visceral angiomatosis
Endothelial	MYL12A	3.300570647	0	Calcium binding protein	BrainSpLMD|10627	
Endothelial	MMP28	3.300325853	0	Metallo protease	BrainSpLMD|79148	OMIM|608417
Endothelial	FOXF2	3.297098115	0	Transcription regulatory protein	BrainSpLMD|2295;Eurexp|euxassay_019593|axial skeleton, bladder, hindgut, larynx, lung, midgut, oesophagus, palatal shelf, penis, phalanx, saccule, stomach, tongue, urethra;BrainSpMouseDev|14015	OMIM|603250
Endothelial	FLT4	3.290403929	0	Receptor tyrosine kinase	BrainSpLMD|2324;BrainSpMouseDev|14034	OMIM|136352;COSMIC||soft tissue sarcoma;HPO|2324|Abnormality of the amniotic fluid, Abnormality of the nail, Autosomal dominant inheritance, Capillary hemangiomas, Congenital onset, Hemangioma, Hydrocele testis, Hyperkeratosis over edematous areas, Hypoplasia of lymphatic vessels, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema
Endothelial	FOXO1	3.287973898	0	Transcription factor	BrainSpLMD|2308;Eurexp|euxassay_008976|vomeronasal organ;BrainSpMouseDev|35738	OMIM|136533;COSMIC||alveolar rhabdomyosarcoma;HPO|2308|Alveolar rhabdomyosarcoma, Autosomal recessive inheritance
Endothelial	B2M	3.266522863	0	MHC complex protein	BrainSpLMD|567	OMIM|109700;COSMIC||DLBCL, melanoma, colorectal adenocarcinoma, Immunodeficiency 43;HPO|567|Autonomic bladder dysfunction, Autonomic dysregulation, Autosomal dominant inheritance, Autosomal recessive inheritance, Bowel incontinence, Bronchiectasis, Cholestasis, Chronic constipation, Chronic diarrhea, Edema, Gastrointestinal dysmotility, Gastrointestinal hemorrhage, Generalized amyloid deposition, Hematuria, Hepatomegaly, Hypertension, Hypoalbuminemia, Hypoplasia of the ulna, Hypoproteinemia, IgG deficiency, Intermittent diarrhea, Keratoconjunctivitis sicca, Malabsorption, Nephropathy, Nephrotic syndrome, Orthostatic hypotension due to autonomic dysfunction, Proteinuria, Radial bowing, Recurrent respiratory infections, Skin rash, Splenomegaly, Variable expressivity, Vertigo, Weight loss, Xerostomia
Endothelial	HYAL2	3.265144649	0	Enzyme: Hydrolase	BrainSpLMD|8692;Eurexp|euxassay_011689|submandibular gland primordium	OMIM|603551
Endothelial	TNFRSF10D	3.262999599	0	Cell surface receptor	BrainSpLMD|8793	OMIM|603614
Endothelial	CLEC14A	3.258943238	0	Unclassified	BrainSpLMD|161198;Eurexp|euxassay_013610|bladder, choroid plexus, head mesenchyme, roof plate, trunk mesenchyme	OMIM|616845
Endothelial	DUSP5	3.258275117	0	Dual specificity phosphatase	BrainSpLMD|1847;Eurexp|euxassay_013720|cortex, epithelium, left lung, mantle layer, marginal layer, molar, right lung, thymus primordium, ventricle	OMIM|603069
Endothelial	C1orf115	3.242757475	0	Unclassified	BrainSpLMD|79762	
Endothelial	PPM1H	3.22546317	0	Unclassified;Enzyme: Phosphatase	BrainSpLMD|57460;Eurexp|euxassay_001457|cervical, cervico-thoracic, dorsal root ganglion, lobe, thoracic, thymus primordium, trigeminal V	OMIM|616016
Endothelial	EMP1	3.222114563	0	Cell cycle control protein	BrainSpLMD|2012	OMIM|602333
Endothelial	PRCP	3.221204704	0	Carboxypeptidase	BrainSpLMD|5547;Eurexp|euxassay_006670|axial muscle, basioccipital bone, lobe, lung, mandible, maxilla, meninges, mesenchyme, orbito-sphenoid, rib, skeletal muscle, thymus primordium	OMIM|176785
Endothelial	CTGF	3.219805426	0	Extracellular matrix protein	BrainSpLMD|1490;Eurexp|euxassay_004838|alimentary system, aorta, arch of aorta, axial skeleton, basioccipital bone, basisphenoid bone, bladder, cardiac muscle, carotid artery, cartilage, clavicle, cortex, cricoid, descending, dorsal aorta, exoccipital bone, fibula, humerus, incisor, laryngeal, larynx, lung, meninges, mesenchyme, metanephros, metatarsus, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, palatal shelf, pelvic girdle, petrous part, phalanx, pharyngo-tympanic tube, pulmonary artery, pulmonary trunk, respiratory tract, rib, scapula, skeletal muscle, skeleton, sternum, stomach, temporal bone, thoracic aorta, thyroid, tibia, trachea, tubo-tympanic recess, turbinate bones, umbilical artery, vault of skull, ventricle, ventricular layer, vomeronasal organ;BrainSpMouseDev|13996	OMIM|121009;HPO|1490|Arthralgia, Arthritis, Autoimmunity, Carious teeth, Dyspareunia, Dysphagia, Dyspnea, Flexion contracture, Gastroesophageal reflux, Hypopigmented skin patches, Malabsorption, Mucosal telangiectasiae, Muscle weakness, Narrow foramen obturatorium, Nausea and vomiting, Oliguria, Osteolysis, Pulmonary fibrosis, Pulmonary infiltrates, Skin ulcer, Telangiectasia of the skin, Xerostomia
Endothelial	S100A10	3.2164021	0	Calcium binding protein	BrainSpLMD|6281;Eurexp|euxassay_018301|bladder, cranium, diaphragm, dorsal root ganglion, epidermis, facial VII, glossopharyngeal IX, incisor, lip, mandible, mantle layer, meninges, metanephros, midgut, molar, neural retina, oesophagus, palatal shelf, pectoral girdle and thoracic body wall, rib, roof plate, stomach, submandibular gland primordium, thymus primordium, trigeminal V, turbinate bones, vagus X, ventral grey horn, vertebral axis muscle system, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|19957	OMIM|114085
Endothelial	DLC1	3.196043973	0	GTPase activating protein	BrainSpLMD|10395;Eurexp|euxassay_013403|axial skeleton, mandible, mantle layer, roof plate, trigeminal V, ventricular layer	OMIM|604258;HPO|10395|Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma
Endothelial	MGST2	3.175190587	0	Enzyme: Glutathione transferase	BrainSpLMD|4258	OMIM|601733
Endothelial	NOTCH4	3.168454004	0	Cell surface receptor	BrainSpLMD|4855;BrainSpMouseDev|17899	OMIM|164951
Endothelial	SERPINB9	3.142304498	0	Protease inhibitor	BrainSpLMD|5272	OMIM|601799
Endothelial	SRGN	3.12917704	0	Extracellular matrix protein	BrainSpLMD|5552;Eurexp|euxassay_003087|dorsal grey horn, liver, lobe, mantle layer, thymus primordium	OMIM|177040
Endothelial	SLC7A1	3.110727305	0	Membrane transport protein	BrainSpLMD|6541;Eurexp|euxassay_012248|adrenal gland, incisor, mandible, mantle layer, meninges, molar, orbito-sphenoid, submandibular gland primordium, temporal bone, turbinate, vibrissa	OMIM|104615
Endothelial	WWTR1	3.105718391	0	Transcription regulatory protein	BrainSpLMD|25937;Eurexp|euxassay_000592|limb, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|61234	OMIM|607392;COSMIC||epithelioid haemangioendothelioma
Endothelial	SERTAD1	3.0967453	0	Cell cycle control protein	BrainSpLMD|29950	
Endothelial	MYRIP	3.087140308	0	Cytoskeletal associated protein	BrainSpLMD|25924	OMIM|611790
Endothelial	DUSP6	3.072237918	0	Dual specificity phosphatase	BrainSpLMD|1848;Eurexp|euxassay_018723|cochlea, cornea, hindgut, incisor, intrinsic, metanephros, midgut, molar, naris, pituitary, primary choana, submandibular gland primordium, tongue, tooth, turbinate bones, vertebral axis muscle system, vibrissa;BrainSpMouseDev|43446	OMIM|602748;HPO|1848|Abnormality of body height, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Anosmia, Anterior hypopituitarism, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Depressivity, Erectile abnormalities, Eunuchoid habitus, Female hypogonadism, Gynecomastia, Hypogonadotrophic hypogonadism, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Increased female libido, Male hypogonadism, Micropenis, Non-obstructive azoospermia, Osteopenia, Osteoporosis, Primary amenorrhea, Reduced bone mineral density, Secondary amenorrhea, Sparse axillary hair, Sparse body hair, Sparse pubic hair, Wide intermamillary distance
Endothelial	RAMP2	3.071620873	0	Transport/cargo protein	BrainSpLMD|10266;Eurexp|euxassay_006585|aorta, atrium, axial muscle, bladder, hindgut, lung, meninges, metanephros, midgut, skeletal muscle, stomach, ventricle	OMIM|605154
Endothelial	MYLK2	3.063700435	0	Serine/threonine kinase	BrainSpLMD|85366	OMIM|606566;HPO|85366|Abnormality of metabolism/homeostasis, Arrhythmia, Asymmetric septal hypertrophy, Autosomal dominant inheritance, Congestive heart failure, Subvalvular aortic stenosis, Sudden death
Endothelial	SP100	3.056758798	0	Transcription regulatory protein	BrainSpLMD|6672	OMIM|604585
Endothelial	SLC2A3	3.051365435	0	Membrane transport protein	BrainSpLMD|6515	OMIM|138170;HPO|6515|Abnormality of movement, Abnormality of the voice, Behavioral abnormality, Cerebral cortical atrophy, Dementia, Developmental regression, EEG abnormality, Spasticity
Endothelial	AC006129.1	3.042518302	0			
Endothelial	MAOA	3.034337759	0	Enzyme: Oxidase	BrainSpLMD|4128;Eurexp|euxassay_018578|cervical, cervico-thoracic, cochlea, cortex, dorsal root ganglion, lung, mantle layer, medulla oblongata, metencephalon, olfactory lobe, pharyngo-tympanic tube, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16930	SFARI||Autism, 4 - Minimal evidence;OMIM|309850;HPO|4128|Aggressive behavior, Autism, Behavioral abnormality, Cognitive impairment, Intellectual disability, Low frustration tolerance, Self-injurious behavior, X-linked recessive inheritance
Endothelial	UTRN	3.032543112	0	Anchor protein	BrainSpLMD|7402;Eurexp|euxassay_013991|bladder, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, primitive seminiferous tubules, rectum, stomach, trigeminal V, urethra	SFARI||Autism, No category;OMIM|128240
Endothelial	ETS2	3.026338085	0	Transcription factor	BrainSpLMD|2114;Eurexp|euxassay_011879|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, nasal septum, orbito-sphenoid, otic capsule, petrous part, rib, scapula, tibia, turbinate, vault of skull;BrainSpMouseDev|23625	OMIM|164740
Endothelial	FCGRT	3.024715845	0	Cell surface receptor	BrainSpLMD|2217;Eurexp|euxassay_011956|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones	OMIM|601437
Endothelial	PEAR1	2.989458081	0	Integral membrane protein		OMIM|610278
Endothelial	TGFBR3	2.987498331	0	Cell surface receptor	BrainSpLMD|7049;Eurexp|euxassay_015312|atrium, brachial plexus, calyces, choroid invagination, choroid plexus, meninges, mesenchyme, ventricle;BrainSpMouseDev|21573	OMIM|600742
Endothelial	SLC7A5	2.982093175	0	Transport/cargo protein	BrainSpLMD|8140;Eurexp|euxassay_019697|clavicle, incisor, mesenchyme, testis, vertebral axis muscle system, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|600182
Endothelial	HBEGF	2.978312057	0	Growth factor	BrainSpLMD|1839;BrainSpMouseDev|14976	OMIM|126150
Endothelial	LPAR6	2.958302127	0	G protein coupled receptor	BrainSpLMD|10161	OMIM|609239;HPO|10161|Alopecia, Autosomal dominant inheritance, Autosomal recessive inheritance, Brittle hair, Coarse hair, Fair hair, Fine hair, Hypopigmentation of hair, Hypotrichosis, Hypotrichosis of the scalp, Slow-growing hair, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Woolly hair
Endothelial	RNASE1	2.947662285	0	RNA binding protein;Ribonuclease	BrainSpLMD|6035	OMIM|180440
Endothelial	EPHA2	2.930997163	0	Receptor tyrosine kinase	BrainSpLMD|1969;Eurexp|euxassay_018963|incisor, lung, molar, sublingual gland primordium, submandibular gland primordium, vibrissa;BrainSpMouseDev|13614	OMIM|176946;HPO|1969|Autosomal dominant inheritance, Choroideremia, Congenital cataract, Myopia, Total cataract
Endothelial	IFI16	2.924751543	0	Transcription regulatory protein	BrainSpLMD|3428;Eurexp|euxassay_019604|Meckel's cartilage, adrenal gland, axial skeleton, exoccipital bone, femur, fibula, hip, humerus, mesenchyme, nasal septum, orbito-sphenoid, otic capsule, radius, rib, scapula, temporal bone, thymus primordium, tibia, turbinate, ulna	OMIM|147586
Endothelial	HLA.B	2.907748036	0			
Endothelial	TTN	2.892215078	0	Structural protein;Enzyme: Phosphotransferase	BrainSpLMD|7273;Eurexp|euxassay_012439|atrium, diaphragm, extrinsic ocular muscle, footplate, mesenchyme, rest of mesenchyme, skeletal muscle, tarsus, ventricle, vertebral axis muscle system	SFARI||Autism, 4 - Minimal evidence;OMIM|188840;HPO|7273|Adult onset, Arrhythmia, Autosomal dominant inheritance, Autosomal recessive inheritance, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Childhood onset, Congenital onset, Diaphragmatic weakness, Dilated cardiomyopathy, Distal muscle weakness, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Facial palsy, Flexion contracture, Foot dorsiflexor weakness, Generalized muscle weakness, Hypertrophic cardiomyopathy, Incomplete penetrance, Infantile onset, Motor delay, Muscular dystrophy, Myopathy, Neck flexor weakness, Proximal muscle weakness, Ptosis, Rimmed vacuoles, Scoliosis, Slow progression, Steppage gait, Sudden death
Endothelial	ABLIM3	2.880577313	0	Cytoskeletal protein	BrainSpLMD|22885;Eurexp|euxassay_006983|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, vagus X, valve, vestibulocochlear VIII	OMIM|611305
Endothelial	ITIH5	2.871537336	0	Protease inhibitor	BrainSpLMD|80760;Eurexp|euxassay_013596|bladder, carpus, cranial muscle, diaphragm, extrinsic ocular muscle, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, meninges, mesenchyme, nasal septum, oesophagus, rest of mesenchyme, saccule, stomach, valve, vibrissa	OMIM|609783
Endothelial	TAL1	2.860322088	0	Transcription factor	BrainSpLMD|6886;Eurexp|euxassay_007171|left, mantle layer, right, ventral grey horn;BrainSpMouseDev|21110	OMIM|187040;COSMIC||lymphoblastic leukaemia/biphasic;HPO|6886|Acute lymphoblastic leukemia, Polygenic inheritance
Endothelial	SCARF1	2.849344741	0	Cell surface receptor	BrainSpLMD|8578	OMIM|607873
Endothelial	FN1	2.842893336	0	Extracellular matrix protein	BrainSpLMD|2335;Eurexp|euxassay_001464|axial skeleton, stomach, ventricular layer;BrainSpMouseDev|14045	OMIM|135600;HPO|2335|Autosomal dominant inheritance, Edema of the lower limbs, Generalized distal tubular acidosis, Glomerulopathy, Hypertension, Hypoalbuminemia, Mesangial abnormality, Microscopic hematuria, Nephrotic syndrome, Proteinuria, Renal cell carcinoma, Renal insufficiency, Slow progression, Stage 5 chronic kidney disease
Endothelial	AHNAK	2.84153769	0	Unclassified	BrainSpLMD|79026	OMIM|103390
Endothelial	KCNJ2	2.814076092	0	Inward rectifier channel	BrainSpLMD|3759;Eurexp|euxassay_013544|mandible, maxilla, olfactory	SFARI||Autism, No category;OMIM|600681;HPO|3759|Antegonial notching of mandible, Atrial fibrillation, Autosomal dominant inheritance, Bidirectional ventricular ectopy, Blepharophimosis, Brachydactyly, Bradycardia, Broad forehead, Bulbous nose, Cleft palate, Clinodactyly of the 5th finger, Clinodactyly of the 5th toe, Delayed eruption of permanent teeth, Delayed skeletal maturation, Depressivity, Facial asymmetry, Growth abnormality, High palate, Hypertelorism, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Joint laxity, Low-set ears, Malar flattening, Microcephaly, Oligodontia, Palpitations, Paroxysmal atrial fibrillation, Periodic hypokalemic paresis, Persistence of primary teeth, Preauricular pit, Prolonged QT interval, Prominent U wave, Prominent frontal sinuses, Scapular winging, Scoliosis, Short foot, Short mandibular rami, Short metacarpal, Short metatarsal, Short palm, Short palpebral fissure, Short phalanx of finger, Shortened QT interval, Slender long bone, Small hand, Syncope, Tachycardia, Thin upper lip vermilion, Toe syndactyly, Triangular face
Endothelial	SOCS3	2.809913938	0	Adapter molecule	BrainSpLMD|9021	OMIM|604176
Endothelial	SULT1C4	2.807496415	0	Enzyme: Sulphotransferase	BrainSpLMD|27233	OMIM|608357
Endothelial	FAM43A	2.794548481	0	Unclassified	BrainSpLMD|131583	
Endothelial	TNS1	2.761324786	0	Adhesion molecule	BrainSpLMD|7145	OMIM|600076
Endothelial	PDGFB	2.75007772	0	Growth factor	BrainSpLMD|5155;BrainSpMouseDev|18357	OMIM|190040;COSMIC||DFSP;HPO|5155|Abnormality of neuronal migration, Adult onset, Anxiety, Apathy, Athetosis, Autosomal dominant inheritance, Basal ganglia calcification, Bradykinesia, Calcification of the small brain vessels, Cerebral calcification, Chorea, Corneal opacity, Dementia, Dense calcifications in the cerebellar dentate nucleus, Depressivity, Dysarthria, Dysdiadochokinesis, Dyskinesia, Dystonia, Erythema, Fibrosarcoma, Gait disturbance, Hepatomegaly, Hyperreflexia, Incomplete penetrance, Intrauterine growth retardation, Limb dysmetria, Mask-like facies, Memory impairment, Meningioma, Mental deterioration, Microcephaly, Migraine, Motor tics, Neoplasm of the skin, Parkinsonism, Postural instability, Progressive, Psychosis, Rigidity, Seizures, Skin ulcer, Subcutaneous hemorrhage, Subcutaneous nodule, Thickened skin, Thrombocytopenia, Tremor, Urinary incontinence, Ventriculomegaly, Vertigo
Endothelial	ZFP36	2.70730055	0	RNA binding protein	BrainSpLMD|7538	OMIM|190700
Endothelial	BGN	2.695223937	0	Extracellular matrix protein	BrainSpLMD|633	OMIM|301870;HPO|633|Anterior wedging of T11, Anterior wedging of T12, Bifid uvula, Brachydactyly, Broad long bone diaphyses, Broad metacarpals, Broad phalanx, Cone-shaped epiphyses fused within their metaphyses, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped metacarpal epiphyses, Coxa valga, Delayed ossification of carpal bones, Disproportionate short-trunk short stature, Downslanted palpebral fissures, Flared iliac wings, Flat acetabular roof, Frontal bossing, Hypertelorism, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Joint hypermobility, Kyphosis, Limited elbow extension, Long fibula, Long ulna, Lumbar hyperlordosis, Malar flattening, Metaphyseal irregularity, Mitral regurgitation, Narrow pelvis bone, Pectus carinatum, Platyspondyly, Posterior rib cupping, Prominent styloid process of ulna, Proptosis, Radial deviation of the hand, Short clavicles, Short foot, Short long bone, Short metacarpal, Short palm, Short phalanx of finger, Spondyloepimetaphyseal dysplasia, X-linked inheritance, X-linked recessive inheritance
Endothelial	QPCT	2.691346509	0	Enzyme: Cyclotransferase	BrainSpLMD|25797;Eurexp|euxassay_011583|floor plate, floorplate, marginal layer, vibrissa	OMIM|607065
Endothelial	SAT1	2.671893002	0	Enzyme: Acyltransferase	BrainSpLMD|6303;Eurexp|euxassay_018693|bladder, incisor, metanephros, olfactory, urethra, vibrissa	OMIM|313020;HPO|6303|Blepharitis, Conjunctivitis, Corneal dystrophy, Dry skin, Dystrophic fingernails, Ectropion, Facial erythema, Follicular hyperkeratosis, Folliculitis, Heterogeneous, Keratitis, Nail dysplasia, Palmoplantar keratoderma, Perifollicular fibrosis, Photophobia, Scarring alopecia of scalp, Sparse and thin eyebrow, Sparse eyelashes, X-linked recessive inheritance
Endothelial	TRIM38	2.656719127	0	Ubiquitin proteasome system protein	BrainSpLMD|10475	
Endothelial	UACA	2.655790117	0	Unclassified	BrainSpLMD|55075	OMIM|612516
Endothelial	MIR4435.1HG	2.633760493	0			
Endothelial	DAB2	2.618788019	0	Adapter molecule	BrainSpLMD|1601	OMIM|601236
Endothelial	KLF4	2.617748921	0	Transcription regulatory protein	BrainSpLMD|9314;Eurexp|euxassay_005264|arm, bladder, clavicle, cranium, extraembryonic component, femur, fibula, footplate, forelimb, handplate, hindlimb, lower leg, mandible, maxilla, molar, oesophagus, orbito-sphenoid, palatal shelf, penis, rest of mesenchyme, rib, tibia, vertebral axis muscle system, vibrissa;BrainSpMouseDev|16373	OMIM|602253;COSMIC||meningioma
Endothelial	CLEC3B	2.61545695	0	Secreted polypeptide	BrainSpLMD|7123	OMIM|187520
Endothelial	NEAT1	2.589419259	0			OMIM|612769
Endothelial	ARHGDIB	2.588647375	0	Adapter molecule	BrainSpLMD|397;Eurexp|euxassay_002360|brain, dorsal root ganglion, spinal cord, thymus primordium, trigeminal V	OMIM|602843
Endothelial	ID1	2.587825554	0	Transcription regulatory protein	BrainSpLMD|3397;BrainSpMouseDev|15674	OMIM|600349
Endothelial	PALD1	2.581025257	0	Unclassified	BrainSpLMD|27143;Eurexp|euxassay_007695|brain, incisor, mandible, maxilla, molar, palatal shelf, spinal cord, ventricular layer, vibrissa	OMIM|614656
Endothelial	FGD5	2.566100634	0	Guanine nucleotide exchange factor	BrainSpLMD|152273;Eurexp|euxassay_010886|mantle layer	OMIM|614788
Endothelial	ANGPT2	2.561185532	0	Ligand	BrainSpLMD|285;Eurexp|euxassay_010627|aorta, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5;BrainSpMouseDev|11388	OMIM|601922
Endothelial	SLC40A1	2.557799792	0	Transport/cargo protein	BrainSpLMD|30061;Eurexp|euxassay_003910|bladder, brain, cervical region, footplate, handplate, liver, lumbar region, lung, mesenchyme, metanephros, midgut, rectum, renal/urinary system, rib, sacral region, spinal cord, thoracic region, vibrissa;BrainSpMouseDev|33240	OMIM|604653;HPO|30061|Abdominal pain, Arrhythmia, Arthralgia, Autosomal dominant inheritance, Cardiomyopathy, Cataract, Fatigue, Generalized hyperpigmentation, Glucose intolerance, Hepatic steatosis, Impotence, Increased serum ferritin, Joint dislocation, Joint swelling, Limitation of joint mobility, Osteoarthritis
Endothelial	PKP4	2.552718352	0	Cell junction protein	BrainSpLMD|8502	OMIM|604276
Endothelial	SERPINB6	2.548033281	0	Protease inhibitor	BrainSpLMD|5269;Eurexp|euxassay_012500|adrenal gland, aorta, diaphragm, dorsal root ganglion, epithelium, eyelid, facial VII, glossopharyngeal IX, hindgut, incisor, left lung, mantle layer, mesenchyme, midgut, naris, naso-lacrimal duct, ovary, rectum, right lung, submandibular gland primordium, testis, thymus primordium, trachea, trigeminal V, umbilical artery, vagus X, ventral grey horn	OMIM|173321;HPO|5269|Autosomal recessive inheritance, Progressive hearing impairment
Endothelial	SASH1	2.53786812	0	Adapter molecule	BrainSpLMD|23328	OMIM|607955
Endothelial	RHOC	2.536380474	0	GTPase	BrainSpLMD|389	OMIM|165380
Endothelial	THSD1	2.533920719	0	Extracellular matrix protein		OMIM|616821
Endothelial	ITGA6	2.525623938	0	Cell surface receptor	BrainSpLMD|3655;Eurexp|euxassay_012071|cortex, incisor, lung, mantle layer, metanephros, molar, pancreas, penis, rectum, ventral grey horn, ventricle	OMIM|147556;HPO|3655|Abdominal distention, Abnormality of the genitourinary system, Anonychia, Aplasia cutis congenita, Aplasia of the bladder, Arthrogryposis multiplex congenita, Atrophic scars, Autosomal recessive inheritance, Axillary pterygia, Congenital onset, Congenital pyloric atresia, Death in infancy, Ectropion, Elevated maternal serum alpha-fetoprotein, Esophageal atresia, Fragile skin, Hematuria, Hydronephrosis, Hypoplasia of dental enamel, Intestinal atresia, Intractable diarrhea, Junctional split, Milia, Nail dysplasia, Nail dystrophy, Nausea and vomiting, Oral mucosal blisters, Polyhydramnios, Recurrent skin infections, Renal duplication, Renal dysplasia, Ureterocele, Urethral stricture, Urinary bladder inflammation
Endothelial	RASIP1	2.521487619	0	Unclassified	BrainSpLMD|54922;Eurexp|euxassay_009931|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|609623
Endothelial	JUNB	2.520946551	0	Transcription factor	BrainSpLMD|3726	OMIM|165161
Endothelial	RBMS3	2.493705613	0	RNA binding protein	BrainSpLMD|27303	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605786
Endothelial	APOL2	2.491364796	0	Integral membrane protein;Transport/cargo protein	BrainSpLMD|23780;Eurexp|euxassay_010310|liver	OMIM|607252
Endothelial	NR3C1	2.488135978	0	Nuclear receptor;Transcription factor	BrainSpLMD|2908;BrainSpMouseDev|14591	OMIM|138040;HPO|2908|Abnormal serum testosterone level, Acne, Adrenal hyperplasia, Autosomal dominant inheritance, Decreased circulating aldosterone level, Fatigue, Hirsutism, Hypertension, Hypoglycemia, Hypokalemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased urinary cortisol level, Metabolic alkalosis, Oligomenorrhea
Endothelial	MYH9	2.476080842	0	Structural protein	BrainSpLMD|4627;Eurexp|euxassay_009371|cornea, hindgut, lung, metanephros, midgut, molar, naris, olfactory, pharyngo-tympanic tube, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trachea, vibrissa;BrainSpMouseDev|17653	OMIM|160775;COSMIC||ALCL, Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome;HPO|4627|Abnormal thrombosis, Abnormality of the eye, Abnormality of the urinary system, Autosomal dominant inheritance, Bruising susceptibility, Cataract, Congenital cataract, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Hematuria, High-frequency hearing impairment, High-frequency sensorineural hearing impairment, Hypertension, Juvenile onset, Leukocyte inclusion bodies, Macrothrombocytopenia, Menorrhagia, Microscopic hematuria, Myocardial infarction, Nephritis, Neutrophil inclusion bodies, Progressive sensorineural hearing impairment, Prolonged bleeding time, Proteinuria, Stage 5 chronic kidney disease, Thrombocytopenia
Endothelial	FOSL2	2.460584823	0	Transcription factor	BrainSpLMD|2355;Eurexp|euxassay_018136|adrenal gland, axial skeleton, calyces, clavicle, ductus deferens, fundus, hindgut, intervertebral disc, mandible, mantle layer, marginal layer, maxilla, midgut, pelvis, testis, urethra, vertebral cartilage condensation, vibrissa;BrainSpMouseDev|14061	OMIM|601575
Endothelial	PLXND1	2.458024759	0	Cell surface receptor	BrainSpLMD|23129;Eurexp|euxassay_014199|embryo;BrainSpMouseDev|43627	OMIM|604282;HPO|23129|Abnormality of the voice, Aplasia of the pectoralis major muscle, Brachydactyly, Corneal opacity, Dysphagia, Everted lower lip vermilion, Facial palsy, Feeding difficulties in infancy, Mask-like facies, Motor delay, Muscular hypotonia, Open mouth, Ophthalmoplegia, Ptosis, Strabismus, Talipes equinovarus
Endothelial	S100A13	2.446884795	0	Calcium binding protein	BrainSpLMD|6284	OMIM|601989
Endothelial	ZC3HAV1	2.428628733	0	-	BrainSpLMD|56829;Eurexp|euxassay_012472|lobe, thymus primordium	OMIM|607312
Endothelial	INPP5D	2.41842521	0	Lipid phosphatase;Cytoskeletal associated protein	BrainSpLMD|3635;Eurexp|euxassay_011053|mandible, maxilla, rib	OMIM|601582
Endothelial	LAMC1	2.408325068	0	Extracellular matrix protein	BrainSpLMD|3915	OMIM|150290
Endothelial	NID1	2.396416719	0	Extracellular matrix protein	BrainSpLMD|4811;Eurexp|euxassay_009707|cervical region, diaphragm, dorsal grey horn, extrinsic ocular muscle, lens, maxillary division, meninges, turbinate bones, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|131390
Endothelial	PREX2	2.382177006	0	Guanine nucleotide exchange factor	BrainSpLMD|80243	OMIM|612139;COSMIC||melanoma, pancreatic ductal adenocarcinoma
Endothelial	NRP2	2.374158047	0	Cell surface receptor	BrainSpLMD|8828;Eurexp|euxassay_009620|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V;BrainSpMouseDev|17954	SFARI||Autism, 4 - Minimal evidence;OMIM|602070
Endothelial	KLF2	2.364320345	0	Transcription factor	BrainSpLMD|10365;Eurexp|euxassay_019501|Meckel's cartilage, axial skeleton, clavicle, endocardial tissue, incisor, mandible, maxilla, mesenchyme, metatarsus, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, rib, turbinate, valve;BrainSpMouseDev|16371	OMIM|602016
Endothelial	SMTN	2.362573913	0	Cytoskeletal associated protein	BrainSpLMD|6525;Eurexp|euxassay_002787|alimentary system, hindgut, limb, midgut, oesophagus, rectum, stomach, vertebral axis muscle system, wall	OMIM|602127
Endothelial	SEC14L1	2.341201726	0	Transport/cargo protein	BrainSpLMD|6397;Eurexp|euxassay_013817|lung, marginal layer	OMIM|601504
Endothelial	ARL4A	2.324298035	0	GTPase	BrainSpLMD|10124;Eurexp|euxassay_007257|lung, mandible, mantle layer, maxilla, meninges, oesophagus, urethra, vertebral axis muscle system	OMIM|604786
Endothelial	COL4A2	2.323027834	0	Extracellular matrix protein	BrainSpLMD|1284;BrainSpMouseDev|12610	OMIM|120090;HPO|1284|Autosomal dominant inheritance, Global developmental delay, Hemiplegia, Incomplete penetrance, Intracranial hemorrhage, Porencephalic cyst, Seizures, Spasticity, Variable expressivity, Ventriculomegaly
Endothelial	TJP1	2.317202806	0	Cell junction protein	BrainSpLMD|7082;Eurexp|euxassay_018809|brain, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, left lung, meninges, metanephros, right lung, spinal cord, trigeminal V	OMIM|601009
Endothelial	DOCK9	2.305885993	0	Guanine nucleotide exchange factor	BrainSpLMD|23348	OMIM|607325
Endothelial	LINC00152	2.303002607	0			
Endothelial	IL6ST	2.300120383	0	Cytokine receptor	BrainSpLMD|3572;BrainSpMouseDev|15968	OMIM|600694;COSMIC||hepatocellular carcinoma
Endothelial	PXN	2.271970789	0	Cytoskeletal associated protein	BrainSpLMD|5829;Eurexp|euxassay_010408|tongue, vertebral axis muscle system	OMIM|602505
Endothelial	GADD45B	2.259012964	0	Cell cycle control protein	BrainSpLMD|4616;Eurexp|euxassay_014952|Meckel's cartilage, olfactory, orbito-sphenoid	SFARI||Autism, 5 - Hypothesized but untested;OMIM|604948
Endothelial	CARD10	2.254949505	0	Adapter molecule	BrainSpLMD|29775;Eurexp|euxassay_011116|embryo, incisor, metanephros, molar, oesophagus, renal/urinary system	OMIM|607209
Endothelial	CLIC1	2.226687591	0	Intracellular ligand gated channel	BrainSpLMD|1192	OMIM|602872
Endothelial	ACE	2.215020684	0	Enzyme: Hydrolase	BrainSpLMD|1636;Eurexp|euxassay_003654|3rd ventricle, 4th ventricle, aorta, choroid invagination, heart, lung, mesenteric artery, metanephros, umbilical artery, vibrissa;BrainSpMouseDev|11210	SFARI||Autism, 4 - Minimal evidence;OMIM|106180;HPO|1636|Anuria, Autosomal recessive inheritance, Hypotension, Microcephaly, Oligohydramnios, Potter facies, Pulmonary hypoplasia, Renotubular dysgenesis, Respiratory insufficiency, Widely patent fontanelles and sutures
Endothelial	AC006129.2	2.210778701	0			
Endothelial	SHC1	2.184666837	0	Adapter molecule	BrainSpLMD|6464;BrainSpMouseDev|20179	OMIM|600560
Endothelial	LAMB1	2.167989851	0	Extracellular matrix protein	BrainSpLMD|3912;Eurexp|euxassay_011018|cochlea, incisor, lung, meninges, metanephros, midgut, molar, pharyngo-tympanic tube, renal/urinary system, sublingual gland primordium, submandibular gland primordium, vibrissa;BrainSpMouseDev|16549	SFARI||Autism, 3 - Suggestive evidence;OMIM|150240;HPO|3912|Abnormality of the cerebral white matter, Autosomal recessive inheritance, Cerebellar hypoplasia, Generalized hypotonia, Gray matter heterotopias, Hydrocephalus, Hypoplasia of the brainstem, Intellectual disability, Leukoencephalopathy, Macrocephaly, Muscular hypotonia, Occipital encephalocele, Porencephalic cyst, Progressive, Seizures, Severe global developmental delay, Spastic paraplegia, Type II lissencephaly, Variable expressivity
Endothelial	RBMS1	2.166406486	0	DNA binding protein	BrainSpLMD|5937	OMIM|602310
Endothelial	PLSCR1	2.164739052	0	Integral membrane protein	BrainSpLMD|5359;Eurexp|euxassay_008744|calyces, hindgut, midgut, pelvis	OMIM|604170
Endothelial	HSPG2	2.164558796	0	Extracellular matrix protein	BrainSpLMD|3339	OMIM|142461;HPO|3339|Abnormal vertebral ossification, Abnormality of epiphysis morphology, Abnormality of femoral epiphysis, Abnormality of pelvic girdle bone morphology, Abnormality of the abdominal wall, Abnormality of the eyebrow, Abnormality of the metaphysis, Abnormality of the pharynx, Anisospondyly, Anterior bowing of long bones, Arthrogryposis multiplex congenita, Atrial septal defect, Autosomal recessive inheritance, Blepharophimosis, Blue sclerae, Bowing of the long bones, Calvarial skull defect, Cataract, Cleft palate, Congenital hip dislocation, Coronal cleft vertebrae, Coxa valga, Coxa vara, Cryptorchidism, Decreased testicular size, Delayed skeletal maturation, Depressed nasal ridge, Disproportionate short-limb short stature, EMG abnormality, Elevated aldolase level, Elevated serum creatine phosphokinase, Everted lower lip vermilion, Flat face, Flexion contracture of toe, Full cheeks, Gait disturbance, Generalized hirsutism, Genu valgum, High palate, High pitched voice, Hip contracture, Hip dysplasia, Hyperlordosis, Hypertonia, Hyporeflexia, Inguinal hernia, Intellectual disability, Joint contracture of the hand, Joint stiffness, Kyphoscoliosis, Kyphosis, Long eyelashes in irregular rows, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Malar flattening, Malignant hyperthermia, Mask-like facies, Metaphyseal widening, Metatarsus valgus, Microcornea, Micrognathia, Micromelia, Muscle weakness, Myopathy, Myopia, Myotonia, Narrow chest, Narrow mouth, Neonatal death, Osteoporosis, Overfolded helix, Overgrowth, Pectus carinatum, Pes planus, Platyspondyly, Posteriorly rotated ears, Prominent nasal bridge, Ptosis, Pulmonary hypoplasia, Pursed lips, Respiratory insufficiency, Scoliosis, Short long bone, Short neck, Short stature, Shoulder flexion contracture, Skeletal dysplasia, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Spinal rigidity, Strabismus, Talipes equinovarus, Thoracic hypoplasia, Trismus, Umbilical hernia, Visual impairment, Weak voice, Wide nasal bridge, Wrist flexion contracture
Endothelial	SGK1	2.153273473	0	Serine/threonine kinase	BrainSpLMD|6446;Eurexp|euxassay_010543|adrenal gland, choroid invagination, choroid plexus, left lung, lip, medullary stroma, mesenchyme, right lung, roof plate, vibrissa;BrainSpMouseDev|20156	OMIM|602958;COSMIC||Nodular lymphocyte predominant Hodgkin lymphoma
Endothelial	COX7A1	2.143400117	0	Enzyme: Oxidoreductase	BrainSpLMD|1346	OMIM|123995
Endothelial	HSPA12B	2.115918759	0	Heat shock protein	BrainSpLMD|116835;Eurexp|euxassay_003766|mantle layer, stomach	OMIM|610702
Endothelial	RASSF3	2.114700002	0	Unclassified	BrainSpLMD|283349;Eurexp|euxassay_002334|mesenchyme, tongue	OMIM|607019
Endothelial	VWA1	2.108755573	0	Extracellular matrix protein	BrainSpLMD|64856	OMIM|611901
Endothelial	SHANK3	2.090704042	0	Cytoskeletal associated protein	BrainSpMouseDev|37264	SFARI||Autism, 1 - High confidence;OMIM|606230;HPO|85358|2-3 toe syndactyly, Abnormality of the dentition, Accelerated skeletal maturation, Autism, Autistic behavior, Broad-based gait, Bruxism, Bulbous nose, Clinodactyly of the 5th finger, Concave nasal ridge, Deeply set eye, Delayed speech and language development, Dental malocclusion, Dolichocephaly, Epicanthus, Episodic vomiting, Feeding difficulties, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Heat intolerance, High palate, Hyperactivity, Hyperorality, Hypohidrosis, Hypoplastic toenails, Hyporeflexia, Immunodeficiency, Impaired pain sensation, Intellectual disability, moderate, Large hands, Long eyelashes, Long philtrum, Lymphedema, Macrocephaly, Macrotia, Malar flattening, Motor delay, Neonatal hypotonia, Palpebral edema, Pointed chin, Poor eye contact, Prominent supraorbital ridges, Protruding ear, Ptosis, Sacral dimple, Seizures, Short chin, Sporadic, Strabismus, Tall stature, Thick eyebrow, Toenail dysplasia, Unsteady gait, Wide nasal bridge
Endothelial	S100A11	2.072160542	0	Calcium binding protein	BrainSpLMD|6282	OMIM|603114
Endothelial	PHACTR2	2.058535865	0	Enzyme regulator	BrainSpLMD|9749;Eurexp|euxassay_007706|alimentary system, cardiovascular system, cavities and their linings, choroid invagination, choroid plexus, gland, integumental system, limb, mesenchyme, renal/urinary system, reproductive system, respiratory system, roof plate, sensory organ, tail, ventricular layer, vertebral axis muscle system	OMIM|608724
Endothelial	ECE1	2.036880568	0	Metallo protease	BrainSpLMD|1889;Eurexp|euxassay_017226|cornea, larynx, naris, oesophagus, olfactory, oral epithelium, pharyngo-tympanic tube, pituitary, submandibular gland primordium, thyroid, trachea, vibrissa	OMIM|600423;HPO|1889|Abdominal pain, Aganglionic megacolon, Agitation, Atrial septal defect, Autosomal dominant inheritance, Bulbous nose, Constipation, Contractures of the interphalangeal joint of the thumb, Cupped ear, Dysautonomia, Hyperconvex nail, Hypertension, Intestinal obstruction, Micropenis, Nausea and vomiting, Patent ductus arteriosus, Posteriorly rotated ears, Prominent nasal bridge, Short nose, Status epilepticus, Tachycardia, Tapered finger, Ventricular septal defect, Weight loss
Endothelial	ADAMTS1	2.034378627	0	Metallo protease	BrainSpLMD|9510;Eurexp|euxassay_004197|clavicle, cranium, mandible, maxilla, rib	OMIM|605174
Endothelial	SERPINH1	1.942333848	0	Heat shock protein	BrainSpLMD|871	OMIM|600943;HPO|871|Autosomal recessive inheritance, Blue sclerae, Broad ribs, Chronic lung disease, Dentinogenesis imperfecta, Generalized hypotonia, Generalized joint laxity, Genu valgum, High forehead, High pitched voice, Inguinal hernia, Joint laxity, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Narrow chest, Narrow forehead, Nephrolithiasis, Osteopenia, Platyspondyly, Prominent forehead, Pyloric stenosis, Relative macrocephaly, Scoliosis, Shallow orbits, Short stature, Thin ribs, Triangular face, Vertebral compression fractures
Endothelial	TFPI	1.90984648	0	Protease inhibitor	BrainSpLMD|7035;Eurexp|euxassay_012616|meninges	OMIM|152310
Endothelial	NFKBIZ	1.909511993	0	Transcription regulatory protein	BrainSpLMD|64332	OMIM|608004
Endothelial	FKBP9	1.859811373	0	Chaperone	BrainSpLMD|11328;Eurexp|euxassay_007465|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, metatarsus, nasal septum, nucleus pulposus, orbito-sphenoid, otic capsule, phalanx, radius, rib, sternum, temporal bone, thyroid, tibia, turbinate, ulna, vault of skull	OMIM|616257;COSMIC||glioma
Endothelial	FKBP1A	1.791046682	0	Enzyme: Isomerase	BrainSpLMD|2280;Eurexp|euxassay_003477|Meckel's cartilage, incisor, lip, mantle layer, molar, orbito-sphenoid, ventral grey horn, ventricular layer	OMIM|186945
Endothelial	MT.RNR1	1.771962005	0			
Endothelial	B4GALT1	1.729895195	0	Enzyme: Galactosyltransferase	BrainSpLMD|2683	OMIM|137060;HPO|2683|Abnormality of coagulation, Autosomal recessive inheritance, Dandy-Walker malformation, Elevated serum creatine phosphokinase, Generalized hypotonia, Global developmental delay, Hydrocephalus, Macrocephaly, Muscular hypotonia, Myopathy
Endothelial	SPARC	1.711075329	0	Secreted polypeptide	BrainSpLMD|6678;BrainSpMouseDev|20454	OMIM|182120;HPO|6678|Autosomal recessive inheritance, Decreased muscle mass, Delayed speech and language development, Motor delay, Muscle weakness, Muscular hypotonia, Osteoporosis, Scoliosis, Short stature, Soft skin, Thin metacarpal cortices, Vertebral compression fractures
Endothelial	PARP14	1.706929893	0	Unclassified	BrainSpLMD|54625	OMIM|610028
Endothelial	DUSP1	1.703015068	0	Dual specificity phosphatase	BrainSpLMD|1843;Eurexp|euxassay_018571|brain, clavicle, femur, glossopharyngeal IX, mesenchyme, neural retina, nucleus pulposus, olfactory, rib, spinal cord, tongue, trigeminal V, vagus X	OMIM|600714
Endothelial	RAB13	1.690120741	0	GTPase	Eurexp|euxassay_003494|meninges, metencephalon, olfactory lobe	OMIM|602672
Endothelial	MT.TS2	1.653094331	0			
Endothelial	ELF1	1.647317655	0	Transcription factor	BrainSpLMD|1997;Eurexp|euxassay_019460|bladder, epidermis, epithelium, hindgut, incisor, larynx, liver, lung, metanephros, midgut, oesophagus, olfactory, oral epithelium, pancreas, pharyngo-tympanic tube, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, vibrissa;BrainSpMouseDev|13487	OMIM|189973
Endothelial	HLA.C	1.643219402	0			
Endothelial	HLA.A	1.640082147	0			
Endothelial	SPTBN1	1.610895512	0	Cytoskeletal protein	BrainSpLMD|6711	OMIM|182790
Endothelial	PCDH12	1.597334535	0	Adhesion molecule	BrainSpLMD|51294;BrainSpMouseDev|32919	OMIM|605622
Endothelial	EBF1	1.517159753	0	Transcription factor	BrainSpLMD|1879;BrainSpMouseDev|13369	OMIM|164343;COSMIC||lipoma
Endothelial	CD63	1.490244671	0	Integral membrane protein	BrainSpLMD|967	OMIM|155740
Endothelial	STAT3	1.465850797	0	Transcription factor	BrainSpLMD|6774;Eurexp|euxassay_004868|axial skeleton, choroid invagination, dorsal grey horn, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mantle layer, mesenchyme, metatarsus, phalanx, thymus primordium, trigeminal V, ventral grey horn, ventricular layer;BrainSpMouseDev|20610	OMIM|102582;COSMIC||T-cell large granular lymphocytic leukaemia, paediatric large granular lymphocytic leukaemia, IPEX-like syndrome;HPO|6774|Abnormal heart morphology, Abnormality of the hair, Arthrogryposis multiplex congenita, Atelectasis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Autosomal dominant inheritance, Bilateral ptosis, Celiac disease, Chronic otitis media, Cleft palate, Coarse facial features, Contractures of the joints of the lower limbs, Cough, Decreased antibody level in blood, Deeply set eye, Dehydration, Delayed eruption of teeth, Downturned corners of mouth, Dystrophic fingernails, Eczema, Eczematoid dermatitis, Eosinophilia, Failure to thrive, Frontal bossing, Generalized abnormality of skin, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Gingivitis, Global developmental delay, Glycosuria, High palate, Hyperglycemia, Hypertelorism, Hypovolemia, Increased IgE level, Infantile onset, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Ketonuria, Microalbuminuria, Motor delay, Neonatal insulin-dependent diabetes mellitus, Osteopenia, Papule, Paronychia, Persistence of primary teeth, Prominent forehead, Prominent metopic ridge, Pruritus, Recurrent Staphylococcus aureus infections, Recurrent fractures, Recurrent fungal infections, Recurrent respiratory infections, Recurrent sinopulmonary infections, Reduced pancreatic beta cells, Retinopathy, Scoliosis, Short stature, Skin rash, Skin ulcer, Weight loss, Wide nasal bridge, Wide nose
Endothelial	HHEX	1.461802811	0	Transcription factor	BrainSpLMD|3087;Eurexp|euxassay_007270|thyroid;BrainSpMouseDev|15018	OMIM|604420
Endothelial	TINAGL1	1.350440954	0	Transport/cargo protein	BrainSpLMD|64129;Eurexp|euxassay_006003|adrenal gland, choroid plexus, lateral recess, submandibular gland primordium	OMIM|616064
Endothelial	ZFP36L1	1.293574101	0	Transcription factor	BrainSpLMD|677;Eurexp|euxassay_007310|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|11978	OMIM|601064
Endothelial	FUT1	4.773663204	1.11E-16	Enzyme: Glycosyltransferase	BrainSpLMD|2523	OMIM|211100
Endothelial	LRRC32	4.003210926	1.11E-16	Unclassified		OMIM|137207
Endothelial	CTC.241F20.3	3.323176271	1.11E-16			
Endothelial	TBC1D4	2.941223415	1.11E-16	GTPase activating protein	BrainSpLMD|9882	OMIM|612465
Endothelial	TIMP1	2.813334197	1.11E-16	Extracellular matrix protein	BrainSpLMD|7076;Eurexp|euxassay_000782|Meckel's cartilage, axial skeleton, chondrocranium, molar	OMIM|305370
Endothelial	YPEL2	2.678453944	1.11E-16	Unclassified	BrainSpLMD|388403	OMIM|609723
Endothelial	TMEM109	2.400302568	1.11E-16	Unclassified	BrainSpLMD|79073	
Endothelial	CD59	2.391275753	1.11E-16	Cell surface receptor	BrainSpLMD|966;Eurexp|euxassay_012059|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, brain, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, orbito-sphenoid, pelvic girdle, rib, scapula, spinal cord, temporal bone, tibia, trigeminal V, turbinate, vagus X, vestibulocochlear VIII;BrainSpMouseDev|12294	OMIM|107271;HPO|966|Areflexia, Autosomal recessive inheritance, Generalized hypotonia, Hemolytic anemia, Increased CSF protein, Infantile onset, Limb muscle weakness, Paroxysmal nocturnal hemoglobinuria, Skeletal muscle atrophy
Endothelial	CAST	2.304812133	1.11E-16	Protease inhibitor	BrainSpLMD|831	OMIM|114090;HPO|831|Angular cheilitis, Autosomal recessive inheritance, Epidermal acanthosis, Leukonychia, Palmoplantar keratoderma, Scaling skin
Endothelial	NOD1	2.266568583	1.11E-16	Adapter molecule	BrainSpLMD|10392;Eurexp|euxassay_000245|anal canal, incisor, urethra, vibrissa	OMIM|605980
Endothelial	SOX13	2.001309432	1.11E-16	Transcription factor	BrainSpLMD|9580;BrainSpMouseDev|20430	OMIM|604748
Endothelial	PVRL2	1.736825299	1.11E-16			
Endothelial	RPL12L3	1.711852825	1.11E-16			
Endothelial	LIMS2	1.595468643	1.11E-16	Adapter molecule	BrainSpLMD|55679	OMIM|607908;HPO|55679|Autosomal recessive inheritance, Calf muscle hypertrophy, Childhood onset, Dilated cardiomyopathy, Elevated serum creatine phosphokinase, Increased connective tissue, Muscular dystrophy, Progressive, Reduced systolic function, Skeletal muscle atrophy, Talipes equinovarus, Tetraparesis, Triangular tongue
Endothelial	FOS	1.144183405	1.11E-16	Transcription factor	BrainSpLMD|2353;Eurexp|euxassay_012634|mandible, maxilla;BrainSpMouseDev|14058	OMIM|164810;HPO|2353|Abnormality of skin pigmentation, Acanthosis nigricans, Accelerated skeletal maturation, Bone cyst, Broad foot, Diabetes mellitus, Generalized hirsutism, Growth hormone excess, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hyperinsulinemia, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Insulin resistance, Intellectual disability, Large hands, Lipoatrophy, Mandibular prognathia, Precocious puberty, Prominent supraorbital ridges, Skeletal muscle hypertrophy
Endothelial	FOXP1	0.893135225	1.11E-16	Transcription factor	BrainSpLMD|27086;Eurexp|euxassay_012052|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, handplate, humerus, mantle layer, mesenchyme, metatarsus, nasal septum, orbito-sphenoid, pelvic girdle, rib, scapula, temporal bone, tibia, turbinate;BrainSpMouseDev|72814	SFARI||Autism, 2 - Strong candidate;OMIM|605515;COSMIC||ALL;HPO|27086|Aggressive behavior, Anemia, Autosomal dominant inheritance, B-cell lymphoma, Broad nasal tip, Constipation, Delayed gross motor development, Delayed speech and language development, Downslanted palpebral fissures, Fatigue, Fever, Generalized hypotonia, Hyperactivity, Hyperhidrosis, Hypertelorism, Intellectual disability, Macrocephaly, Nausea and vomiting, Nystagmus, Open mouth, Prominent forehead, Pulmonary infiltrates, Retrognathia, Short nose, Stereotypy, Strabismus, Weight loss
Endothelial	ALPK3	4.041958637	2.22E-16	Transcription regulatory protein	BrainSpLMD|57538	OMIM|617608
Endothelial	PLVAP	3.332704915	2.22E-16	Unclassified	BrainSpLMD|83483;Eurexp|euxassay_005747|embryo	OMIM|607647
Endothelial	MATN3	3.188525779	2.22E-16	Extracellular matrix protein	BrainSpLMD|4148;Eurexp|euxassay_004635|Meckel's cartilage, axial skeleton, clavicle, cranium, intervertebral disc, larynx, mesenchyme, metatarsus, nasal septum, otic capsule, phalanx, rib, turbinate bones, vertebral cartilage condensation	OMIM|602109;HPO|4148|Arthralgia, Arthralgia of the hip, Autosomal dominant inheritance, Autosomal recessive inheritance, Bowing of the legs, Broad femoral neck, Coxa vara, Delayed ossification of carpal bones, Delayed tarsal ossification, Disproportionate short-limb short stature, Dysplastic iliac wings, Epiphyseal dysplasia, Flat acetabular roof, Gait disturbance, Genu valgum, Heterogeneous, Hip dysplasia, Hypoplasia of the capital femoral epiphysis, Hypoplastic pubic bone, Irregular epiphyses, Joint stiffness, Limb undergrowth, Limited elbow extension, Lumbar hyperlordosis, Metaphyseal irregularity, Metaphyseal spurs, Metaphyseal widening, Micromelia, Multiple epiphyseal dysplasia, Narrow iliac wings, Osteoarthritis, Ovoid vertebral bodies, Platyspondyly, Posterior rib cupping, Premature osteoarthritis, Short femoral neck, Short long bone, Small epiphyses, Spondyloepimetaphyseal dysplasia, Thoracic hypoplasia, Waddling gait
Endothelial	SLC30A1	3.129041562	2.22E-16	Membrane transport protein	BrainSpLMD|7779;Eurexp|euxassay_019737|vibrissa	OMIM|609521
Endothelial	PARP12	3.064871295	2.22E-16	DNA binding protein	BrainSpLMD|64761	OMIM|612481
Endothelial	YES1	2.295606575	2.22E-16	Tyrosine kinase	BrainSpLMD|7525	OMIM|164880
Endothelial	S1PR1	2.078212207	2.22E-16	G protein coupled receptor	BrainSpLMD|1901;BrainSpMouseDev|13387	OMIM|601974
Endothelial	GRASP	3.690642801	3.33E-16	Adapter molecule	BrainSpLMD|160622	OMIM|612027
Endothelial	IFI6	2.753549901	3.33E-16	Unclassified	BrainSpLMD|2537	OMIM|147572
Endothelial	TANC1	2.410483795	3.33E-16	Unclassified	Eurexp|euxassay_012462|mandible, maxilla, metanephros, ventricular layer	OMIM|611397
Endothelial	CHST15	2.210457372	3.33E-16	Enzyme: Sulphotransferase	Eurexp|euxassay_004543|bladder, clavicle, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, hindgut, incisor, loop, mandible, mantle layer, marginal layer, maxilla, metatarsus, midgut, molar, neural retina, oculomotor III, penis, rectum, rib, stomach, stroma, trigeminal V, trochlear IV, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|608277
Endothelial	VIM	1.381936775	3.33E-16	Cytoskeletal protein	BrainSpLMD|7431	OMIM|193060;HPO|7431|Autosomal dominant inheritance, Congenital onset, Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract
Endothelial	CDKN1A	1.869018809	4.44E-16	Cell cycle control protein	BrainSpLMD|1026	OMIM|116899;COSMIC||bladder cancer;HPO|1026|Adrenocortical adenoma, Angiofibromas, Diarrhea, Elevated circulating parathyroid hormone level, Episodic abdominal pain, Esophagitis, Fasting hyperinsulinemia, Growth hormone excess, Hypercalcemia, Hyperinsulinemic hypoglycemia, Hyperparathyroidism, Insulinoma, Parathyroid adenoma, Parathyroid hyperplasia, Peptic ulcer, Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary prolactin cell adenoma, Subcutaneous lipoma, Thyroid adenoma, Zollinger-Ellison syndrome
Endothelial	PRTG	2.784725321	5.55E-16	Unclassified		OMIM|613261
Endothelial	NAMPT	1.92644918	5.55E-16	Cytokine	BrainSpLMD|10135;Eurexp|euxassay_004817|axial muscle	OMIM|608764
Endothelial	MT2A	3.324853086	6.66E-16	Unclassified	Eurexp|euxassay_004529|left, oesophagus, pancreas, pharyngo-tympanic tube, right, stomach, submandibular gland primordium, thyroid, vibrissa	OMIM|156360
Endothelial	NRP1	1.502248273	6.66E-16	Cell surface receptor	BrainSpLMD|8829;BrainSpMouseDev|17953	OMIM|602069
Endothelial	STOM	2.544702777	8.88E-16	Integral membrane protein	BrainSpLMD|2040;Eurexp|euxassay_005540|bladder, hindgut, left, midgut, rectum, right, wall	OMIM|133090;HPO|2040|Autosomal dominant inheritance, Hemolytic anemia, Hepatomegaly, Hyperbilirubinemia, Increased intracellular sodium, Increased red cell osmotic fragility, Jaundice, Reticulocytosis, Splenomegaly, Stomatocytosis
Endothelial	TNFRSF1A	1.952934987	8.88E-16	Cell surface receptor	BrainSpLMD|7132	OMIM|191190;HPO|7132|Abdominal pain, Amyloidosis, Arthralgia, Arthritis, Autosomal dominant inheritance, Conjunctival hyperemia, Constipation, Diarrhea, Edema, Elevated C-reactive protein level, Elevated erythrocyte sedimentation rate, Episodic fever, Erysipelas, Erythema, Hepatic amyloidosis, Intestinal obstruction, Leukocytosis, Lymphadenopathy, Muscle stiffness, Myalgia, Orchitis, Pericarditis, Periorbital edema, Pleuritis, Skin rash, Splenomegaly, Vomiting
Endothelial	VCL	1.87353912	8.88E-16	Cytoskeletal associated protein	BrainSpLMD|7414	OMIM|193065;HPO|7414|Autosomal dominant inheritance, Congestive heart failure, Dilated cardiomyopathy, Dyspnea, Endocardial fibrosis, Hypertrophic cardiomyopathy
Endothelial	PDE8A	1.677459451	9.99E-16	Enzyme: Phosphodiesterase	BrainSpLMD|5151;Eurexp|euxassay_001451|axial skeleton, cranium, pectoral girdle and thoracic body wall, turbinate bones	OMIM|602972
Endothelial	PRDM1	2.487538961	1.11E-15	Transcription factor	BrainSpLMD|639;Eurexp|euxassay_009010|hindgut, midgut, vibrissa	OMIM|603423;COSMIC||DLBCL
Endothelial	DPEP1	4.575010939	1.22E-15	Protease	BrainSpLMD|1800;Eurexp|euxassay_004552|incisor	OMIM|179780
Endothelial	MYL12B	1.269835668	1.33E-15	Cytoskeletal protein		OMIM|609211
Endothelial	MTUS1	1.979983994	1.44E-15	Growth inhibitory factor	BrainSpLMD|57509	OMIM|609589
Endothelial	WFS1	3.094609134	1.78E-15	Integral membrane protein	BrainSpLMD|7466;Eurexp|euxassay_010102|diaphragm, lung, mandible, maxilla, orbito-sphenoid, stomach, vertebral axis muscle system;BrainSpMouseDev|22150	OMIM|606201;HPO|7466|Abnormality of mesentery morphology, Abnormality of the pinna, Abnormality of the upper urinary tract, Anxiety, Ataxia, Autistic behavior, Autosomal dominant inheritance, Autosomal recessive inheritance, Behavioral abnormality, Cardiomyopathy, Central diabetes insipidus, Cerebral atrophy, Congenital cataract, Congenital sensorineural hearing impairment, Delayed puberty, Dementia, Depressivity, Diabetes insipidus, Diabetes mellitus, Dysarthria, Dysphagia, Dysuria, Feeding difficulties in infancy, Gastrointestinal dysmotility, Glaucoma, Glucose intolerance, Growth delay, Hearing impairment, Hydronephrosis, Hydroureter, Hypothyroidism, Intellectual disability, Limited mobility of proximal interphalangeal joint, Low-frequency sensorineural hearing impairment, Male hypogonadism, Megaloblastic anemia, Nephropathy, Neurogenic bladder, Nuclear cataract, Nystagmus, Optic atrophy, Peripheral axonal neuropathy, Pigmentary retinopathy, Polydipsia, Primary gonadal insufficiency, Progressive cerebellar ataxia, Progressive sensorineural hearing impairment, Psychosis, Ptosis, Recurrent urinary tract infections, Seizures, Sensorineural hearing impairment, Sideroblastic anemia, Stroke-like episode, Testicular atrophy, Thrombocytopenia, Tremor
Endothelial	STARD8	2.559907783	1.78E-15	GTPase activating protein	BrainSpLMD|9754	OMIM|300689
Endothelial	MBNL2	2.018003056	1.78E-15	RNA binding protein	BrainSpLMD|10150;Eurexp|euxassay_005986|cerebral cortex, dorsal root ganglion, embryo, forebrain, glossopharyngeal IX, lung, midbrain, oesophagus, trigeminal V, vagus X	OMIM|607327
Endothelial	LRRC70	2.431664261	2.22E-15		BrainSpLMD|100130733	
Endothelial	PLEKHG1	2.203653825	2.33E-15	Unclassified	BrainSpMouseDev|84601	
Endothelial	SYNGR2	1.392427588	2.66E-15	Integral membrane protein	BrainSpLMD|9144	OMIM|603926
Endothelial	OSTF1	2.694423248	2.89E-15	Adapter molecule	BrainSpLMD|26578;BrainSpMouseDev|20172	OMIM|610180
Endothelial	AC116366.6	2.245074798	2.89E-15			
Endothelial	EHD4	2.274754478	3.66E-15	Calcium binding protein	BrainSpLMD|30844;Eurexp|euxassay_011878|Meckel's cartilage, axial skeleton, femur, fibula, hip, humerus, rib, scapula, tibia	OMIM|605892
Endothelial	GNG5	1.540806773	4.22E-15	G protein	BrainSpLMD|2787;Eurexp|euxassay_007798|embryo	OMIM|600874
Endothelial	N4BP3	1.406140475	5.33E-15	Unclassified	BrainSpLMD|23138	
Endothelial	OAS2	3.097844454	5.44E-15	Enzyme: Ligase	BrainSpLMD|4939	OMIM|603350
Endothelial	MSN	1.440807788	5.55E-15	Cytoskeletal protein	BrainSpLMD|4478;Eurexp|euxassay_009365|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, organ system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	SFARI||Autism, 5 - Hypothesized but untested;OMIM|309845;COSMIC||ALCL;HPO|4478|Decreased antibody level in blood, Eczema, Lymphopenia, Recurrent respiratory infections, Recurrent urinary tract infections, X-linked recessive inheritance
Endothelial	SMG1P3	2.509509433	5.66E-15			
Endothelial	LUZP1	1.902789528	5.66E-15	Transcription regulatory protein	BrainSpLMD|7798;Eurexp|euxassay_000241|cortex, epidermis, incisor, lung, oesophagus, oral epithelium, pharyngo-tympanic tube, submandibular gland primordium, ventricular layer, vibrissa	OMIM|601422
Endothelial	MPP1	3.744594543	6.33E-15	Structural protein		OMIM|305360
Endothelial	FAM129A	4.661668495	6.44E-15	Unclassified	BrainSpLMD|116496	
Endothelial	OCLN	2.224882613	6.77E-15		Eurexp|euxassay_018589|embryo	OMIM|602876;HPO|100506658|Abnormality of movement, Anteverted nares, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral calcification, Cerebral cortical atrophy, Decreased liver function, Elevated hepatic transaminases, Failure to thrive, Global developmental delay, Hepatomegaly, High palate, Hyperreflexia, Increased CSF protein, Intellectual disability, profound, Jaundice, Lissencephaly, Long philtrum, Low-set ears, Microcephaly, Microretrognathia, Muscular hypotonia of the trunk, Nystagmus, Pachygyria, Petechiae, Phenotypic variability, Polymicrogyria, Seizures, Sloping forehead, Spasticity, Splenomegaly, Thrombocytopenia, Ventriculomegaly
Endothelial	EOGT	3.037375063	6.99E-15	Enzyme: Glycosyltransferase	BrainSpLMD|285203;Eurexp|euxassay_007775|aorta, embryo, left lung, mantle layer, meninges, right lung	OMIM|614789;HPO|285203|Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aplasia cutis congenita, Autosomal recessive inheritance, Brachydactyly, Calvarial skull defect, Cataract, Cutis marmorata, Failure to thrive, Finger syndactyly, Hydrocephalus, Hypoplastic toenails, Microphthalmia, Phenotypic variability, Pulmonary artery atresia, Short distal phalanx of finger, Sparse hair, Split hand, Strabismus, Talipes, Tetralogy of Fallot, Toenail dysplasia
Endothelial	JAK1	1.138123938	7.44E-15	Tyrosine kinase	BrainSpLMD|3716;Eurexp|euxassay_003142|basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, thymus primordium, trigeminal V, vagus X, ventral grey horn	OMIM|147795;COSMIC||ALL
Endothelial	CCDC68	2.952355294	7.77E-15	Unclassified	BrainSpLMD|80323	OMIM|616909
Endothelial	SLC39A10	2.048165428	7.88E-15	Membrane transport protein	Eurexp|euxassay_019701|incisor, lung, metanephros, molar, oesophagus, olfactory, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, thyroid, urethra, ventricular layer, vibrissa	OMIM|608733
Endothelial	SCARB1	2.270810032	8.77E-15	Cell surface receptor	BrainSpLMD|949;Eurexp|euxassay_006305|adenohypophysis, adrenal gland, incisor, molar, olfactory, submandibular gland primordium, testis, thymus primordium;BrainSpMouseDev|20540	OMIM|601040
Endothelial	RP11.742N3.1	1.188046887	9.44E-15			
Endothelial	NFKBIA	1.407996622	1.07E-14	Transcription regulatory protein	BrainSpLMD|4792;Eurexp|euxassay_009409|anterior, mandible, maxilla, molar, naris, thymus primordium;BrainSpMouseDev|17802	OMIM|164008;HPO|4792|Anhidrosis, Anhidrotic ectodermal dysplasia, Aplasia of the sweat glands, Autosomal dominant inheritance, Concave nasal ridge, Conical tooth, Frontal bossing, Heat intolerance, Hypodontia, Hypohidrosis, Infantile onset, Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Sparse hair
Endothelial	ARHGAP31	2.910866509	1.23E-14			OMIM|610911;HPO|57514|Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Alopecia, Aortic valve stenosis, Aplasia cutis congenita, Aplasia cutis congenita on trunk or limbs, Aplasia cutis congenita over posterior parietal area, Atrial septal defect, Autosomal dominant inheritance, Bicuspid aortic valve, Brachydactyly, Calvarial skull defect, Cataract, Cleft palate, Cleft upper lip, Cortical dysplasia, Cutis marmorata, Encephalocele, Esotropia, Failure to thrive, Finger syndactyly, Generalized hypotonia, Global developmental delay, Hydrocephalus, Hypoplasia of the corpus callosum, Hypoplastic left heart, Imperforate hymen, Intellectual disability, Microcephaly, Microphthalmia, Pachygyria, Periventricular leukomalacia, Phenotypic variability, Polymicrogyria, Pulmonary arterial hypertension, Pulmonary artery atresia, Pulmonary artery stenosis, Pulmonic stenosis, Seizures, Short distal phalanx of finger, Small nail, Sparse hair, Split hand, Strabismus, Supernumerary nipple, Talipes, Talipes equinovarus, Tetralogy of Fallot, Toe syndactyly, Ventricular septal defect, Ventriculomegaly
Endothelial	MCAM	2.147769153	1.23E-14	Adhesion molecule	BrainSpLMD|4162	OMIM|155735
Endothelial	PMAIP1	2.666515809	1.49E-14	Unclassified	BrainSpLMD|5366	OMIM|604959
Endothelial	PON2	2.060299021	1.55E-14	Enzyme: Esterase	BrainSpLMD|5445	OMIM|602447;HPO|5445|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
Endothelial	HMCN1	1.211433828	1.55E-14	Extracellular matrix protein	BrainSpLMD|83872	OMIM|608548
Endothelial	TSC22D3	2.598935034	1.60E-14	Transcription regulatory protein	BrainSpLMD|1831;Eurexp|euxassay_000517|facial bones primordia, optic foramen, orbital fissure, orbito-sphenoid, otic capsule, turbinate, vestibular component;BrainSpMouseDev|14381	OMIM|300506
Endothelial	EMP2	1.294096057	1.63E-14	Cell cycle control protein	BrainSpLMD|2013;Eurexp|euxassay_013721|bladder, epithelium, incisor, larynx, left lung, mantle layer, marginal layer, midgut, molar, pharyngo-tympanic tube, rectum, right lung, skeletal muscle, stomach, thymus primordium, trachea, urethra, ventricular layer, vibrissa	OMIM|602334;HPO|2013|Autosomal recessive inheritance, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome
Endothelial	RREB1	1.703639689	1.71E-14	Transcription factor	BrainSpLMD|6239;Eurexp|euxassay_007568|mantle layer;BrainSpMouseDev|44592	OMIM|602209;HPO|6239|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
Endothelial	GSN	1.855049682	1.72E-14	Cytoskeletal protein	BrainSpLMD|2934	SFARI||Autism, No category;OMIM|137350;HPO|2934|Abnormality of abdomen morphology, Adult onset, Autosomal dominant inheritance, Bulbar palsy, Cardiac amyloidosis, Cardiomyopathy, Cutis laxa, Generalized amyloid deposition, Lattice corneal dystrophy, Nephrotic syndrome, Polyneuropathy, Renal insufficiency
Endothelial	PIM3	1.912153268	1.83E-14	Serine/threonine kinase		OMIM|610580
Endothelial	YBX3	1.726759771	1.90E-14	DNA binding protein	BrainSpLMD|8531	OMIM|603437
Endothelial	TPT1	1.21767168	2.09E-14	Calcium binding protein	BrainSpLMD|7178	OMIM|600763
Endothelial	TACC1	2.326705989	2.10E-14	Cell cycle control protein	BrainSpLMD|6867	OMIM|605301
Endothelial	ATP8B1	2.029021756	2.14E-14	ATPase	BrainSpLMD|5205	OMIM|602397;HPO|5205|Abnormal liver function tests during pregnancy, Autosomal dominant inheritance, Autosomal recessive inheritance, Cirrhosis, Conjugated hyperbilirubinemia, Diarrhea, Failure to thrive, Fat malabsorption, Fetal distress, Hearing impairment, Hepatomegaly, Increased serum bile acid concentration, Increased serum bile acid concentration during pregnancy, Infantile onset, Intermittent jaundice, Intrahepatic cholestasis, Intrahepatic cholestasis with episodic jaundice, Jaundice, Pancreatitis, Premature birth, Pruritus, Severe short stature, Splenomegaly
Endothelial	SMAD1	1.935512568	2.25E-14	Transcription regulatory protein	BrainSpLMD|4086;Eurexp|euxassay_018467|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|16895	OMIM|601595
Endothelial	CYYR1	1.965374399	2.36E-14	Unclassified	BrainSpLMD|116159	OMIM|616020
Endothelial	MYO1B	1.867750141	2.39E-14	Motor protein	BrainSpLMD|4430;Eurexp|euxassay_006192|mantle layer, olfactory, ventricular layer	OMIM|606537
Endothelial	SOD2	2.278175637	2.43E-14	Enzyme: Superoxide dismutase	BrainSpLMD|6648;Eurexp|euxassay_018920|axial muscle, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mandible, mantle layer, marginal layer, maxilla, neural retina, orbito-sphenoid, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, ventricle, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|147460
Endothelial	SLC35F2	1.237558073	2.66E-14	Membrane transport protein	BrainSpLMD|54733;Eurexp|euxassay_003909|genital tubercle, incisor, lateral wall, lung, mantle layer, metanephros, midgut, molar, naris, olfactory lobe, palatal shelf, pancreas, rectum, respiratory, submandibular gland primordium, thymus primordium, turbinate bones	
Endothelial	ARHGAP18	2.17885591	2.76E-14	GTPase activating protein	BrainSpLMD|93663	OMIM|613351
Endothelial	ARHGAP27	1.985453177	2.98E-14	GTPase activating protein	BrainSpLMD|201176;Eurexp|euxassay_011913|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones	OMIM|610591
Endothelial	STARD13	2.503636203	3.21E-14	GTPase activating protein	BrainSpLMD|90627	OMIM|609866
Endothelial	FLNB	1.99501189	3.42E-14	Cytoskeletal associated protein	BrainSpLMD|2317;Eurexp|euxassay_014002|axial skeleton, clavicle, exoccipital bone, incisor, mandible, maxilla, mesenchyme, metatarsus, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, palatal shelf, phalanx, sternum, submandibular gland primordium, temporal bone, thymus primordium, thyroid, trachea, turbinate, ventricular layer, vibrissa	OMIM|603381;HPO|2317|11 pairs of ribs, Abnormality of femur morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the humerus, Abnormality of the metacarpal bones, Abnormality of the radius, Abnormality of tibia morphology, Absent radius, Accessory carpal bones, Aortic dilatation, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the ulna, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Beaking of vertebral bodies, Bipartite calcaneus, Block vertebrae, Brachydactyly, Broad distal phalanx of finger, Broad face, Broad nasal tip, Broad thumb, Bronchomalacia, C2-C3 subluxation, Carpal synostosis, Cataract, Cervical kyphosis, Cervical segmentation defect, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Club-shaped proximal femur, Clubbing, Conductive hearing impairment, Corneal opacity, Coronal cleft vertebrae, Cryptorchidism, Delayed skeletal maturation, Depressed nasal bridge, Dislocated wrist, Disproportionate short-trunk short stature, Distal tapering femur, Elbow dislocation, Encephalocele, Epiphyseal dysplasia, Fibular aplasia, Finger syndactyly, Flat acetabular roof, Flat face, Frontal bossing, Fused cervical vertebrae, Growth hormone deficiency, Hip dislocation, Hitchhiker thumb, Horizontal sacrum, Hydrops fetalis, Hyperlordosis, Hypertelorism, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Hypoplastic cervical vertebrae, Hypoplastic iliac body, Hypoplastic nasal septum, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Knee dislocation, Large joint dislocations, Laryngeal stenosis, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Mixed hearing impairment, Multinucleated giant chondrocytes in epiphyseal cartilage, Multiple carpal ossification centers, Narrow chest, Neonatal death, Omphalocele, Pectus carinatum, Pectus excavatum, Pes planus, Polyhydramnios, Poorly ossified vertebrae, Preauricular skin tag, Premature birth, Prominent forehead, Prominent occiput, Proptosis, Radial bowing, Rarefaction of retinal pigmentation, Renal cyst, Restrictive ventilatory defect, Rhizomelia, Sandal gap, Scoliosis, Severe short stature, Severe short-limb dwarfism, Shallow orbits, Short distal phalanx of finger, Short femur, Short humerus, Short metacarpal, Short metatarsal, Short nail, Short neck, Short nose, Short stature, Spatulate thumbs, Spina bifida occulta, Spinal cord compression, Spondylolysis, Sporadic, Stillbirth, Talipes equinovalgus, Talipes equinovarus, Tarsal synostosis, Thoracic platyspondyly, Tibial bowing, Tombstone-shaped proximal phalanges, Tracheal stenosis, Tracheomalacia, Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Widened distal phalanges
Endothelial	FSTL1	1.380465025	3.42E-14	Protease inhibitor	Eurexp|euxassay_003685|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail;BrainSpMouseDev|14090	OMIM|605547
Endothelial	NR2F2	1.538374488	3.62E-14	Nuclear receptor	BrainSpLMD|7026;Eurexp|euxassay_018442|cortex, ductus deferens, extrinsic ocular muscle, incisor, lip, lung, mantle layer, metanephros, metatarsus, molar, oesophagus, stomach, submandibular gland primordium, tongue, trachea, trigeminal V, turbinate bones, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|11606	OMIM|107773;HPO|7026|Aortic valve stenosis, Atrioventricular canal defect, Autosomal dominant inheritance, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect
Endothelial	PSMB8	2.468396748	3.75E-14	Ubiquitin proteasome system protein	BrainSpLMD|5696;Eurexp|euxassay_013665|thymus primordium	OMIM|177046;HPO|5696|Abnormality of the Leydig cells, Adipose tissue loss, Arthralgia, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Basal ganglia calcification, Bone pain, Camptodactyly of finger, Cardiomegaly, Clubbing of fingers, Clubbing of toes, Congestive heart failure, Conjunctivitis, Elbow flexion contracture, Elevated erythrocyte sedimentation rate, Elevated hepatic transaminases, Episcleritis, Episodic fever, Erythema, Erythema nodosum, Failure to thrive, Finger swelling, Flexion contracture of toe, Hepatomegaly, Hyperhidrosis, Hyperostosis, Hyperpigmentation of the skin, Hypertriglyceridemia, Increased antibody level in blood, Intellectual disability, mild, Joint stiffness, Large eyes, Lipoatrophy, Lipodystrophy, Long fingers, Lymphadenopathy, Macroglossia, Macrotia, Microcytic anemia, Muscle weakness, Osteopenia, Panniculitis, Prominent nose, Skeletal muscle atrophy, Skin rash, Splenomegaly, Subcutaneous nodule, Thick lower lip vermilion
Endothelial	MYO1E	2.126709826	3.81E-14	Motor protein	BrainSpLMD|4643	OMIM|601479;HPO|4643|Autosomal recessive inheritance, Chronic kidney disease, Edema, Focal segmental glomerulosclerosis, Hematuria, Hypoalbuminemia, Nephrotic syndrome, Progressive, Proteinuria, Tubular atrophy
Endothelial	HOPX	2.056950384	3.85E-14	Transcription regulatory protein	BrainSpLMD|84525;Eurexp|euxassay_010529|anterior, atrium, external, lateral wall, mantle layer, midgut, ventricle, ventricular layer, vibrissa;BrainSpMouseDev|50159	OMIM|607275
Endothelial	EDN3	4.17500233	4.49E-14	Ligand;Peptide hormone	BrainSpLMD|1908	OMIM|131242;HPO|1908|Abdominal pain, Abnormal macular morphology, Abnormality of temperature regulation, Abnormality of the cardiovascular system, Abnormality of the mouth, Abnormality of vision, Aganglionic megacolon, Autosomal dominant inheritance, Autosomal recessive inheritance, Blue irides, Central hypoventilation, Constipation, Downslanted palpebral fissures, Feeding difficulties, Ganglioneuroblastoma, Ganglioneuroma, Hearing impairment, Heterochromia iridis, Heterogeneous, Hyperhidrosis, Hypopigmented skin patches, Intestinal obstruction, Low-set ears, Nausea and vomiting, Olfactory lobe agenesis, Posteriorly rotated ears, Premature graying of hair, Prominent nasal bridge, Respiratory insufficiency, Sensorineural hearing impairment, Synophrys, Underdeveloped nasal alae, Weight loss, White eyebrow, White eyelashes, White forelock, Wide nasal bridge
Endothelial	FAM101B	2.485397926	5.00E-14			
Endothelial	CCND1	0.284177505	6.43E-14	Cell cycle control protein	BrainSpLMD|595;Eurexp|euxassay_002703|calyces, cervical, cervico-thoracic, neural retina, olfactory, orbito-sphenoid, submandibular gland primordium, thoracic, ventricular layer, vibrissa	OMIM|168461;COSMIC||CLL, B-ALL, breast;HPO|595|Abnormality of bone marrow cell morphology, Acute kidney injury, Anemia, Anorexia, B-cell lymphoma, Bone pain, Decreased antibody level in blood, Elevated serum creatinine, Fatigue, Fever, Generalized muscle weakness, Hyperproteinemia, Increased IgG level, Lymphadenopathy, Nephropathy, Nephrotic syndrome, Osteopenia, Pathologic fracture, Splenomegaly, Weight loss
Endothelial	NAMPTL	2.032691818	7.04E-14			
Endothelial	HES1	1.871568011	7.89E-14	Transcription factor	BrainSpLMD|3280;Eurexp|euxassay_019489|epithelium, floor plate, floorplate, hindgut, incisor, larynx, lung, metanephros, metatarsus, midgut, molar, neural retina, oesophagus, olfactory, oral epithelium, pancreas, phalanx, pharyngo-tympanic tube, skeleton, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|14981	OMIM|139605
Endothelial	PHLDB2	2.212322596	8.12E-14	Cytoskeletal associated protein	BrainSpLMD|90102	OMIM|610298
Endothelial	USP53	1.597709567	8.54E-14	Ubiquitin proteasome system protein	BrainSpLMD|54532;Eurexp|euxassay_014191|incisor, molar, olfactory, submandibular gland primordium	OMIM|617431
Endothelial	BCAP31	2.085962774	8.85E-14	Transport/cargo protein	BrainSpLMD|10134	OMIM|300398;HPO|10134|Abnormal facial shape, Abnormal pyramidal signs, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Cerebral hypomyelination, Dystonia, Failure to thrive, Global developmental delay, Intellectual disability, Intellectual disability, severe, Microcephaly, Sensorineural hearing impairment, Strabismus, Tetraplegia, X-linked recessive inheritance
Endothelial	ZFP36L2	1.338617334	1.01E-13	Transcription factor	BrainSpLMD|678	OMIM|612053
Endothelial	CLIC2	3.154646394	1.05E-13	Intracellular ligand gated channel	BrainSpLMD|1193	OMIM|300138;HPO|1193|Absent speech, Cardiomegaly, Congestive heart failure, Contractures of the large joints, Global developmental delay, Intellectual disability, profound, Macroorchidism, Macrotia, Seizures, X-linked recessive inheritance
Endothelial	CTHRC1	2.233125682	1.05E-13	Extracellular matrix protein	BrainSpLMD|115908;Eurexp|euxassay_010954|axial skeleton, basioccipital bone, basisphenoid bone, calyces, carpus, clavicle, cornea, diaphragm, femur, fibula, humerus, hyoid bone, mandible, maxilla, meninges, mesenchyme, metacarpus, metatarsus, midgut, naris, nasal septum, oesophagus, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, stomach, tarsus, thyroid, tibia, tongue, turbinate bones, ulna, valve, vault of skull	OMIM|610635;HPO|115908|Barrett esophagus, Esophageal carcinoma, Somatic mutation
Endothelial	ATG9B	0.354595732	1.06E-13	Unclassified	BrainSpLMD|285973	OMIM|612205
Endothelial	TULP2	2.327398784	1.12E-13	Transcription regulatory protein	BrainSpLMD|7288	OMIM|602309
Endothelial	MLKL	3.905572285	1.30E-13	Tyrosine kinase	BrainSpLMD|197259	OMIM|615153
Endothelial	ITM2B	0.970027005	1.35E-13	Integral membrane protein	BrainSpLMD|9445	OMIM|603904;HPO|9445|Ataxia, Autosomal dominant inheritance, Cerebral amyloid angiopathy, Dementia, Hearing impairment, Hypertonia, Intention tremor, Neurofibrillary tangles, Optic disc pallor, Photophobia, Posterior polar cataract, Progressive neurologic deterioration, Psychosis, Retinal dystrophy, Rigidity, Spasticity, Tremor
Endothelial	PTPN14	2.599544618	1.36E-13	Tyrosine phosphatase	BrainSpLMD|5784;Eurexp|euxassay_009623|axial skeleton, metanephros, nasal septum, oesophagus, submandibular gland primordium, vibrissa	OMIM|603155;HPO|5784|Autosomal recessive inheritance, Choanal atresia, High palate, Lymphedema, Pericardial effusion
Endothelial	SSH1	1.634293646	1.53E-13	Dual specificity phosphatase	BrainSpLMD|54434	OMIM|606778
Endothelial	DOCK1	1.761618748	1.54E-13	Guanine nucleotide exchange factor	BrainSpLMD|1793	SFARI||Autism, 4 - Minimal evidence;OMIM|601403
Endothelial	CSRP1	2.855597993	1.60E-13	Adapter molecule	BrainSpLMD|1465;Eurexp|euxassay_019749|aorta, axial skeleton, bladder, clavicle, cortical region, hindgut, incisor, lung, mesenchyme, metanephros, midgut, molar, oesophagus, palatal shelf, skeletal muscle, stomach, submandibular gland primordium, trachea, ureter, vibrissa	OMIM|123876
Endothelial	TMEM50B	1.27863518	1.68E-13	Integral membrane protein	BrainSpLMD|757;Eurexp|euxassay_012115|Meckel's cartilage, arytenoid, axial skeleton, basioccipital bone, basisphenoid bone, carpus, cricoid, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, hyoid bone, mantle layer, marginal layer, metacarpus, naris, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rest of mesenchyme, rib, scapula, sternum, submandibular gland primordium, thyroid, tibia, trigeminal V, turbinate bones, ulna, vagus X, vault of skull, ventricular layer, vestibulocochlear VIII	
Endothelial	RUNDC3B	2.934337428	1.70E-13	Unclassified	BrainSpLMD|154661	OMIM|617295
Endothelial	PDE7B	2.291083686	1.71E-13	Enzyme: Phosphodiesterase	BrainSpLMD|27115	OMIM|604645
Endothelial	DYSF	1.807878651	1.96E-13	Unclassified	BrainSpLMD|8291	OMIM|603009;HPO|8291|Adult onset, Autosomal recessive inheritance, Decreased Achilles reflex, Decreased/absent ankle reflexes, Difficulty climbing stairs, Difficulty running, Distal amyotrophy, Distal muscle weakness, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Heterogeneous, Increased connective tissue, Increased variability in muscle fiber diameter, Lower limb muscle weakness, Muscle fiber splitting, Muscle fibrillation, Muscular dystrophy, Proximal muscle weakness, Rapidly progressive, Slow progression
Endothelial	CSGALNACT1	2.432190105	2.02E-13	Enzyme: Transferase	BrainSpLMD|55790	OMIM|616615
Endothelial	ABCB4	0.999444574	2.06E-13	Transport/cargo protein	BrainSpLMD|5244	OMIM|171060;HPO|5244|Abnormal liver function tests during pregnancy, Autosomal dominant inheritance, Autosomal recessive inheritance, Bile duct proliferation, Cholangitis, Cholecystitis, Cholelithiasis, Cholesterol gallstones, Cirrhosis, Diarrhea, Elevated alkaline phosphatase, Elevated hepatic transaminases, Fetal distress, Hepatic fibrosis, Hepatomegaly, Heterogeneous, Increased serum bile acid concentration during pregnancy, Infantile onset, Intrahepatic cholestasis, Jaundice, Malabsorption, Pancreatitis, Portal fibrosis, Premature birth, Pruritus, Splenomegaly
Endothelial	ISG15	2.055200092	2.10E-13	Cytokine	BrainSpLMD|9636	OMIM|147571;HPO|9636|Autosomal recessive inheritance, Immunodeficiency, Recurrent mycobacterial infections
Endothelial	SSFA2	1.40689664	2.32E-13	Unclassified	BrainSpLMD|6744	OMIM|118990
Endothelial	IRF2	1.720501456	2.36E-13	Transcription factor	BrainSpLMD|3660;BrainSpMouseDev|16136	OMIM|147576
Endothelial	FZD6	1.986644909	2.55E-13	G protein coupled receptor	BrainSpLMD|8323;Eurexp|euxassay_018161|bladder, embryo, oesophagus, oral epithelium, pharyngo-tympanic tube;BrainSpMouseDev|14144	OMIM|603409;HPO|8323|Autosomal recessive inheritance, Onychauxis, Onycholysis
Endothelial	NEDD9	1.236456605	2.61E-13	Adhesion molecule	BrainSpLMD|4739;Eurexp|euxassay_006351|aorta, calyces, cortex, epithelium, incisor, left lung, mesenchyme, midgut, molar, olfactory, pelvis, rectum, retina, right lung, sternum, stomach, thymus primordium, thyroid, trachea, ureter, ventricular layer, vibrissa, vomeronasal organ	OMIM|602265
Endothelial	SPOCK2	2.248079839	2.98E-13	Extracellular matrix protein	BrainSpLMD|9806	OMIM|607988
Endothelial	PPFIBP1	1.920258549	3.61E-13	Anchor protein	BrainSpLMD|8496;BrainSpMouseDev|43376	OMIM|603141;COSMIC||Spitzoid tumour, inflammatory myofibroblastic tumour
Endothelial	SEPP1	1.989098883	3.80E-13			
Endothelial	PALMD	1.663508078	3.89E-13	Unclassified	BrainSpLMD|54873	OMIM|610182
Endothelial	LSR	0.731643183	4.05E-13	Integral membrane protein	BrainSpLMD|51599;Eurexp|euxassay_003312|bladder, foregut-midgut junction, glomeruli, hindgut, incisor, left lung, loop, midgut, molar, naris, oesophagus, olfactory, pancreas, rectum, right lung, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, trachea, urethra, vibrissa;BrainSpMouseDev|33428	OMIM|616582
Endothelial	FAM46C	1.406635069	4.12E-13	Unclassified	BrainSpLMD|54855;Eurexp|euxassay_013491|lens, lobe, pancreas	OMIM|613952;COSMIC||MM
Endothelial	WASF4P	3.169536038	4.65E-13			
Endothelial	GJA1	2.729861732	4.71E-13	Membrane transport protein	BrainSpLMD|2697;BrainSpMouseDev|14385	OMIM|121014;HPO|2697|2-4 toe cutaneous syndactyly, 3-4 toe syndactyly, 4-5 finger syndactyly, Abnormal blistering of the skin, Abnormal cortical bone morphology, Abnormality of dental enamel, Abnormality of dental morphology, Abnormality of the cerebral white matter, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormality of the nasopharynx, Abnormality of the thorax, Absent middle phalanx of 5th finger, Alopecia, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the middle phalanges of the hand, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Basal ganglia calcification, Blepharophimosis, Bony paranasal bossing, Brachycephaly, Broad alveolar ridges, Broad columella, Broad long bones, Camptodactyly of finger, Carious teeth, Cataract, Cerebral calcification, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Club-shaped distal femur, Coarse facial features, Conductive hearing impairment, Congenital alopecia totalis, Congestive heart failure, Cranial hyperostosis, Craniofacial hyperostosis, Cubitus valgus, Curly hair, Cutaneous photosensitivity, Cyanosis, Delayed eruption of permanent teeth, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Depressed nasal bridge, Diabetes mellitus, Downslanted palpebral fissures, Dry hair, Dry skin, Dysarthria, Dystrophic fingernails, Epicanthus, Epidermal acanthosis, Erythema, External ear malformation, Facial hyperostosis, Facial palsy, Failure to thrive, Fifth finger distal phalanx clinodactyly, Fine hair, Finger syndactyly, Fingernail dysplasia, First degree atrioventricular block, Flared metaphysis, Fragile nails, Frontal bossing, Gait disturbance, Generalized hyperkeratosis, Glaucoma, High forehead, High-grade hypermetropia, Hip dislocation, Hyperactive deep tendon reflexes, Hypergranulosis, Hypermelanotic macule, Hyperreflexia, Hypertelorism, Hypoplasia of dental enamel, Hypoplasia of teeth, Hypoplasia of the maxilla, Hypoplastic aortic arch, Hypoplastic left heart, Hypotelorism, Hypotrichosis, Infantile onset, Inlet ventricular septal defect, Intellectual disability, Joint contracture of the 5th finger, Large earlobe, Long nose, Long philtrum, Low-set ears, Macrocephaly, Macrodontia of permanent maxillary central incisor, Mandibular prognathia, Median cleft lip, Metaphyseal dysplasia, Microcephaly, Microcornea, Microdontia, Micrognathia, Microphthalmia, Mild global developmental delay, Mixed hearing impairment, Muscle weakness, Myopia, Nail dysplasia, Narrow mouth, Narrow nasal bridge, Narrow nose, Nasal obstruction, Neurogenic bladder, Optic atrophy, Osteopetrosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Paraparesis, Patchy palmoplantar keratoderma, Patchy sclerosis of finger phalanx, Persistent pupillary membrane, Phenotypic variability, Premature loss of primary teeth, Premature loss of teeth, Primum atrial septal defect, Prominent epicanthal folds, Pulmonary arterial hypertension, Reduced number of teeth, Seizures, Selective tooth agenesis, Short 5th finger, Short foot, Short middle phalanx of the 5th finger, Short nose, Short palpebral fissure, Short stature, Skeletal dysplasia, Skin rash, Slow-growing hair, Small hand, Sparse eyelashes, Sparse hair, Spastic paraparesis, Spasticity, Telecanthus, Tetraparesis, Thin anteverted nares, Thin vermilion border, Toe syndactyly, Underdeveloped nasal alae, Vertebral hyperostosis, Visual impairment, Weight loss, Wide nasal bridge
Endothelial	HSPB1	1.972666283	5.29E-13	Chaperone	BrainSpLMD|3315	OMIM|602195;HPO|3315|Adult onset, Areflexia, Areflexia of lower limbs, Autosomal dominant inheritance, Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Difficulty walking, Distal amyotrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Distal sensory impairment, EMG: chronic denervation signs, EMG: neuropathic changes, Fasciculations, Foot dorsiflexor weakness, Heterogeneous, Hyporeflexia, Hyporeflexia of lower limbs, Impaired pain sensation, Impaired temperature sensation, Limb fasciculations, Lower limb muscle weakness, Muscle cramps, Paresis of extensor muscles of the big toe, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Reduced tendon reflexes, Slow progression, Split hand, Steppage gait, Talipes equinovarus, Ulnar claw, Upper limb amyotrophy
Endothelial	PARP9	2.197474504	5.36E-13	Unclassified	BrainSpLMD|83666;Eurexp|euxassay_010721|thymus primordium	OMIM|612065
Endothelial	BAG3	1.886503096	5.60E-13	Adapter molecule	BrainSpLMD|9531	OMIM|603883;HPO|9531|Autosomal dominant inheritance, Axonal loss, Congestive heart failure, Demyelinating peripheral neuropathy, Diaphragmatic paralysis, Dilated cardiomyopathy, Distal sensory impairment, EMG: myopathic abnormalities, Easy fatigability, Elevated serum creatine phosphokinase, Facial palsy, Generalized amyotrophy, Hypertrophic cardiomyopathy, Hyporeflexia, Knee flexion contracture, Muscular dystrophy, Myofibrillar myopathy, Nasal speech, Pes cavus, Rapidly progressive, Respiratory insufficiency, Scoliosis, Spinal rigidity
Endothelial	ANO2	4.095054761	5.74E-13	Membrane transport protein	BrainSpLMD|57101;Eurexp|euxassay_004375|mantle layer, olfactory, ventral grey horn	OMIM|610109
Endothelial	KITLG	1.85918513	5.84E-13	Growth factor	BrainSpLMD|4254;Eurexp|euxassay_003584|dorsal root ganglion, glomeruli, mantle layer, marginal layer, naris, neural retina, olfactory, olfactory cortex, stroma, thymus primordium, trachea, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|17080	OMIM|184745;HPO|4254|Autosomal dominant inheritance, Cafe-au-lait spot, Heterochromia iridis, Hyperkeratosis, Hypopigmented skin patches, Infantile onset, Multiple lentigines, Premature graying of hair, Progressive hyperpigmentation, Sensorineural hearing impairment, White forelock
Endothelial	ANXA2R	2.665475045	6.18E-13	Unclassified	BrainSpLMD|389289	OMIM|611296
Endothelial	RHOA	1.303859351	6.35E-13	GTPase	BrainSpLMD|387;BrainSpMouseDev|11635	OMIM|165390;COSMIC||diffuse gastric, T cell lymphomas, paediatric Burkitt lymphoma
Endothelial	MYL6	1.16901857	6.35E-13	Cytoskeletal protein	BrainSpLMD|4637	OMIM|609931
Endothelial	UBA7	2.477627415	6.88E-13	Ubiquitin proteasome system protein	BrainSpLMD|7318;Eurexp|euxassay_000752|lobe, thymus primordium	OMIM|191325
Endothelial	FRMD8	2.339510672	7.05E-13	Cytoskeletal associated protein	BrainSpLMD|83786;Eurexp|euxassay_012085|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, otic capsule, pelvic girdle, rib, scapula, temporal bone, tibia, turbinate	
Endothelial	GIMAP1	2.947727327	7.36E-13	GTPase	BrainSpLMD|170575	OMIM|608084
Endothelial	TMOD3	1.36393864	7.56E-13	Cytoskeletal associated protein	BrainSpLMD|29766;Eurexp|euxassay_005515|clavicle, mandible, maxilla, orbito-sphenoid, rib	OMIM|605112
Endothelial	COLGALT1	1.542914366	7.85E-13	Unclassified	BrainSpLMD|79709	OMIM|617531
Endothelial	NUDT14	1.760633112	7.96E-13	Enzyme: Hydrolase	BrainSpLMD|256281	OMIM|609219
Endothelial	PPP1R15A	1.758573581	8.20E-13	Cell cycle control protein	BrainSpLMD|23645	OMIM|611048
Endothelial	RBMS2	1.724711454	8.54E-13	RNA binding protein	BrainSpLMD|5939	OMIM|602387
Endothelial	RALB	2.434631207	8.83E-13	GTPase	BrainSpLMD|5899	OMIM|179551
Endothelial	JUP	1.917402899	9.30E-13	Adhesion molecule	BrainSpLMD|3728;Eurexp|euxassay_013744|bladder, dorsal root ganglion, epidermis, epithelium, facial VII, glossopharyngeal IX, incisor, larynx, midgut, molar, neural retina, olfactory, oral epithelium, pharyngo-tympanic tube, rectum, stomach, submandibular gland primordium, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|173325;HPO|3728|Acantholysis, Alopecia, Anonychia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cardiomegaly, Cardiomyopathy, Cleft upper lip, Congestive heart failure, Curly hair, Dilated cardiomyopathy, Epidermal acanthosis, Episodes of ventricular tachycardia, Fragile skin, Heterogeneous, Hyperhidrosis, Nail dystrophy, Onycholysis, Oral mucosal blisters, Palmoplantar keratoderma, Right ventricular cardiomyopathy, Skin erosion, Sparse and thin eyebrow, Sparse scalp hair, Sudden death, Syncope, Ventricular arrhythmia, Ventricular tachycardia, Vertigo, Woolly hair
Endothelial	FKBP1C	1.627953738	9.38E-13			
Endothelial	HLF	2.756434491	9.43E-13	Transcription factor	BrainSpLMD|3131;BrainSpMouseDev|85119	OMIM|142385;COSMIC||ALL
Endothelial	RAPGEF4	2.118122723	1.02E-12	Guanine nucleotide exchange factor	BrainSpLMD|11069;Eurexp|euxassay_017162|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	SFARI||Autism, 4 - Minimal evidence;OMIM|606058
Endothelial	MSRB3	2.500377755	1.08E-12	Enzyme: Reductase	BrainSpLMD|253827;Eurexp|euxassay_000090|Meckel's cartilage, axial skeleton, bladder, chondrocranium, clavicle, cochlea, dorsal root ganglion, facial bones primordia, fibula, frontal bone primordium, heart, hindlimb, hip, hyoid bone, inner ear, labyrinth, leg, lower jaw, lower leg, lung, mandible, maxilla, mesenchyme, nucleus pulposus, otic capsule, palatal shelf, pelvic girdle, premaxilla, primary palate, rib, sacral region, scapula, shoulder, skeleton, submandibular gland primordium, tibia, trigeminal V, turbinate, turbinate bones, upper jaw, valve, vault of skull, ventricle, vertebra, vestibular component	OMIM|613719;HPO|253827|Autosomal recessive inheritance, Hearing impairment
Endothelial	SERF2	1.27809025	1.17E-12	RNA binding protein	BrainSpLMD|10169;Eurexp|euxassay_007238|cranium	OMIM|605054
Endothelial	KANK2	2.286744884	1.22E-12	Structural protein	BrainSpLMD|25959	OMIM|614610;HPO|25959|Autosomal recessive inheritance, Palmoplantar keratoderma, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Sparse scalp hair, Woolly hair, Woolly scalp hair
Endothelial	SYPL1	1.944806395	1.22E-12	Integral membrane protein	BrainSpLMD|6856;Eurexp|euxassay_005903|embryo	OMIM|616665
Endothelial	BTG2	1.611279507	1.28E-12	Cell cycle control protein	BrainSpLMD|7832;Eurexp|euxassay_000263|alar plate, diencephalon, epithelium, hindbrain, liver, lung, metencephalon, midbrain, neural retina, oesophagus, oral epithelium, spinal cord, stomach, telencephalon, ventricular layer	OMIM|601597
Endothelial	STRA6	2.692171588	1.37E-12	Integral membrane protein	BrainSpLMD|64220;Eurexp|euxassay_017150|dorsal grey horn, dorsal root ganglion, glossopharyngeal IX, meninges, metanephros, nasal septum, rib, trigeminal V, turbinate bones, ventral grey horn	OMIM|610745;HPO|64220|Agenesis of pulmonary vessels, Anophthalmia, Atrial septal defect, Autosomal recessive inheritance, Bicornuate uterus, Bilateral lung agenesis, Bilateral microphthalmos, Blepharophimosis, Coarctation of aorta, Congenital diaphragmatic hernia, Cryptorchidism, Diaphragmatic eventration, Generalized hypotonia, Horseshoe kidney, Hydronephrosis, Hypoplasia of the uterus, Hypoplastic left atrium, Hypoplastic spleen, Inguinal hernia, Intellectual disability, profound, Intrauterine growth retardation, Micrognathia, Patent ductus arteriosus, Pelvic kidney, Pulmonary artery atresia, Pulmonary hypoplasia, Pulmonic stenosis, Renal hypoplasia, Renal malrotation, Respiratory insufficiency, Right aortic arch with mirror image branching, Short stature, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Wide nasal bridge
Endothelial	AHR	3.083180891	1.40E-12	Transcription factor	BrainSpLMD|196;Eurexp|euxassay_008932|associated mesenchyme, bladder, ureter;BrainSpMouseDev|11409	OMIM|600253
Endothelial	MT1E	2.118156346	1.42E-12	Transport/cargo protein	BrainSpLMD|4493	OMIM|156351
Endothelial	PGF	2.729838048	1.42E-12	Growth factor	BrainSpLMD|5228	OMIM|601121
Endothelial	ACTN4	2.081118537	1.43E-12	Cytoskeletal protein	BrainSpLMD|81	SFARI||Autism, No category;OMIM|604638;HPO|81|Anemia, Autosomal dominant inheritance, Edema, Focal segmental glomerulosclerosis, Hyperlipidemia, Hypertension, Hypoalbuminemia, Incomplete penetrance, Proteinuria, Slow progression, Variable expressivity
Endothelial	PLAT	3.091391676	1.45E-12	Serine protease	BrainSpLMD|5327	OMIM|173370;HPO|5327|Autosomal dominant inheritance, Hypercoagulability, Recurrent deep vein thrombosis
Endothelial	ARHGAP26	2.042626814	1.45E-12	GTPase activating protein	BrainSpLMD|23092;Eurexp|euxassay_016565|mantle layer, olfactory	OMIM|605370;COSMIC||AML, MDS;HPO|23092|Autosomal dominant inheritance, Juvenile myelomonocytic leukemia, Somatic mutation
Endothelial	PLSCR4	2.864958392	1.63E-12	Transport/cargo protein	BrainSpLMD|57088;Eurexp|euxassay_010505|oesophagus	OMIM|607612
Endothelial	FAM84A	2.211032839	1.74E-12	Unclassified	BrainSpLMD|151354;Eurexp|euxassay_003388|respiratory, submandibular gland primordium, urethra, vibrissa	OMIM|611234
Endothelial	TPM4	1.179771662	1.93E-12	Cytoskeletal protein		OMIM|600317;COSMIC||ALCL
Endothelial	CHST7	1.417908982	1.97E-12	Enzyme: Sulphotransferase	BrainSpLMD|56548	OMIM|300375
Endothelial	RAP1B	1.408470203	2.11E-12	GTPase	BrainSpLMD|5908	OMIM|179530;HPO|5908|Abnormal dermatoglyphics, Abnormality of the cardiac septa, Butterfly vertebrae, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Conductive hearing impairment, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Hemivertebrae, High palate, Highly arched eyebrow, Hydrocephalus, Hypodontia, Joint hyperflexibility, Long eyelashes, Macrotia, Microcephaly, Microdontia, Muscular hypotonia, Protruding ear, Ptosis, Recurrent infections, Scoliosis, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Sparse lateral eyebrow, Strabismus, Ventriculomegaly, Widely spaced teeth
Endothelial	TNFAIP2	2.333969209	2.28E-12	Unclassified	BrainSpLMD|7127;Eurexp|euxassay_011806|cochlea, naris, olfactory, saccule	OMIM|603300
Endothelial	ADAMTS9	3.087104653	2.36E-12	Metallo protease	BrainSpLMD|56999	OMIM|605421
Endothelial	NET1	2.216613447	2.38E-12	Guanine nucleotide exchange factor	BrainSpLMD|10276	OMIM|606450
Endothelial	RP11.12G12.7	1.608454986	2.47E-12			
Endothelial	WBP5	0.898024078	2.61E-12			
Endothelial	RHOB	1.771208757	2.65E-12	GTPase	BrainSpLMD|388;Eurexp|euxassay_016450|floor plate, floorplate, mantle layer, marginal layer	OMIM|165370
Endothelial	LAMB2	2.726118863	2.84E-12	Extracellular matrix protein	BrainSpLMD|3913	OMIM|150325;HPO|3913|Areflexia, Autosomal recessive inheritance, Blindness, Diffuse mesangial sclerosis, Edema, Generalized hypotonia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Hypoproteinemia, Myopia, Neonatal onset, Nephrotic syndrome, Nystagmus, Posterior lenticonus, Proteinuria, Stage 5 chronic kidney disease, Strabismus
Endothelial	DCBLD1	2.555171139	2.92E-12	Integral membrane protein	BrainSpLMD|285761;Eurexp|euxassay_014279|Meckel's cartilage, axial skeleton, femur, fibula, humerus, pelvic girdle, radius, rib, scapula, tibia	
Endothelial	RP3.388N13.2	0.28957929	2.99E-12			
Endothelial	CD55	1.955072383	3.12E-12	Complement protein	BrainSpLMD|1604;Eurexp|euxassay_009544|aorta, associated mesenchyme, bladder, left lung, liver, mesenchyme, mesentery, metanephros, oesophagus, olfactory, palatal shelf, right lung, stomach, trigeminal V	OMIM|125240;HPO|1604|Abdominal pain, Abnormality of the intestine, Ascites, Autosomal recessive inheritance, Budd-Chiari syndrome, Clubbing, Diarrhea, Edema, Growth delay, Hypoproteinemia, Iron deficiency anemia
Endothelial	SLFN12	1.992101532	3.13E-12	Unclassified	BrainSpLMD|55106	OMIM|614955
Endothelial	IL1R1	4.461583218	3.18E-12	Cytokine receptor	BrainSpLMD|3554;BrainSpMouseDev|15950	OMIM|147810
Endothelial	KLF10	1.680352814	3.19E-12	Transcription factor	BrainSpLMD|7071	OMIM|601878
Endothelial	PAQR5	2.691821495	3.19E-12	Unclassified	BrainSpLMD|54852	OMIM|607781
Endothelial	ANXA5	1.755824773	3.22E-12	Calcium binding protein	BrainSpLMD|308;Eurexp|euxassay_002158|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, meninges, renal/urinary system, reproductive system, respiratory system, tail	OMIM|131230
Endothelial	CFLAR	1.811184747	3.98E-12	Adapter molecule	BrainSpLMD|8837;Eurexp|euxassay_005593|axial skeleton, cervical, cervico-thoracic, choroid plexus, dorsal root ganglion, facial VII, foregut-midgut junction, hindgut, lateral recess, limb, mantle layer, marginal layer, midgut, stomach, thoracic, trigeminal V, vagus X, ventricular layer;BrainSpMouseDev|12418	OMIM|603599
Endothelial	JAG1	1.66239486	3.99E-12	Cell surface receptor	BrainSpLMD|182;Eurexp|euxassay_015945|aorta, epidermis, extrinsic ocular muscle, intermediate grey horn, lens, mantle layer, metanephros, pharyngo-tympanic tube, pineal primordium, ventricular layer, vestibular component;BrainSpMouseDev|16222	OMIM|601920;HPO|182|Abnormal nasal morphology, Abnormality of the ribs, Areflexia, Atrial septal defect, Autosomal dominant inheritance, Axenfeld anomaly, Band keratopathy, Brachydactyly, Broad forehead, Butterfly vertebral arch, Cataract, Chorioretinal atrophy, Cirrhosis, Clinodactyly of the 5th finger, Coarctation of aorta, Cryptorchidism, Deeply set eye, Depressed nasal bridge, Dolichocephaly, Elevated hepatic transaminases, Exocrine pancreatic insufficiency, Failure to thrive, Hemivertebrae, Hepatocellular carcinoma, Hypercholesterolemia, Hypertelorism, Hypertriglyceridemia, Hypoplasia of the ulna, Incomplete penetrance, Infantile onset, Intrauterine growth retardation, Long nose, Macrotia, Microcornea, Multiple small medullary renal cysts, Myopia, Papillary thyroid carcinoma, Peripheral pulmonary artery stenosis, Pigmentary retinal deposits, Posterior embryotoxon, Preauricular pit, Prolonged neonatal jaundice, Proptosis, Reduced number of intrahepatic bile ducts, Renal dysplasia, Renal hypoplasia, Renal tubular acidosis, Short distal phalanx of finger, Specific learning disability, Strabismus, Stroke, Tetralogy of Fallot, Thin vermilion border, Triangular face, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Vesicoureteral reflux
Endothelial	CSRNP1	1.362234202	4.04E-12	Unclassified	BrainSpLMD|64651	OMIM|606458
Endothelial	TES	1.653074073	4.05E-12	Secreted polypeptide	BrainSpLMD|26136;Eurexp|euxassay_004840|adenohypophysis, brain, dorsal root ganglion, extrinsic ocular muscle, facial VII, hindgut, humerus, incisor, left lung, loop, medullary stroma, midgut, molar, neural retina, oesophagus, pituitary, rectum, right lung, spinal cord, stomach, stroma, submandibular gland primordium, thymus primordium, trachea, trigeminal V, vagus X, vibrissa	OMIM|606085
Endothelial	SLC7A11	2.854420965	4.06E-12	Membrane transport protein	BrainSpLMD|23657;Eurexp|euxassay_012149|choroid invagination, lens, meninges, olfactory, ventricular layer	OMIM|607933
Endothelial	HSP90AB1	0.77528661	4.14E-12	Chaperone	BrainSpLMD|3326	OMIM|140572;COSMIC||NHL
Endothelial	SLC29A1	2.311893671	4.16E-12	Membrane transport protein	BrainSpLMD|2030;Eurexp|euxassay_019687|liver, lobe, phalanx, testis, thymus primordium, tongue, vertebral axis muscle system	OMIM|602193
Endothelial	SNCG	2.524400388	4.19E-12	Chaperone	BrainSpLMD|6623;Eurexp|euxassay_005364|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII;BrainSpMouseDev|20380	OMIM|602998
Endothelial	CRYBG3	2.252949176	4.64E-12	Unclassified		
Endothelial	WASF2	1.160828342	4.76E-12	Cytoskeletal associated protein	BrainSpLMD|10163	OMIM|605875
Endothelial	RP11.603J24.7	0.951641747	4.81E-12			
Endothelial	RPL5	0.38707705	5.08E-12	Ribosomal subunit	BrainSpLMD|6125	OMIM|603634;COSMIC||T-ALL, Diamond-Blackfan anaemia;HPO|6125|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Bifid uvula, Cleft palate, Cleft upper lip, Delayed puberty, Failure to thrive, Fatigue, Growth delay, Hypertelorism, Increased mean corpuscular volume, Macrocytic anemia, Micrognathia, Migraine, Mitral regurgitation, Mitral valve prolapse, Pallor, Patent ductus arteriosus, Persistence of hemoglobin F, Short thumb, Tetralogy of Fallot, Tracheomalacia, Ventricular hypertrophy, Ventricular septal defect
Endothelial	ITPKB	2.029191211	5.16E-12	Lipid Kinase	BrainSpLMD|3707;Eurexp|euxassay_009586|bladder, liver	OMIM|147522
Endothelial	RP1.142L7.5	2.201708241	5.19E-12			
Endothelial	BST2	3.41520377	5.26E-12	Integral membrane protein	BrainSpLMD|684	OMIM|600534
Endothelial	SLC2A14	0.570965351	5.61E-12	Transport/cargo protein	BrainSpLMD|144195	OMIM|611039
Endothelial	RPS6KA3	2.307861518	6.25E-12	Serine/threonine kinase	BrainSpLMD|6197	SFARI||Autism, 4 - Minimal evidence;OMIM|300075;HPO|6197|Abnormal diaphysis morphology, Abnormal form of the vertebral bodies, Abnormality of dental morphology, Anteverted nares, Bifid sternum, Brachydactyly, Broad finger, Broad nasal tip, Broad palm, Coarse facial features, Coarse hair, Coxa valga, Craniofacial hyperostosis, Cutis laxa, Cutis marmorata, Decreased body weight, Delayed closure of the anterior fontanelle, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Dental malocclusion, Depressed nasal bridge, Downslanted palpebral fissures, Drumstick terminal phalanges, Epicanthus, Everted lower lip vermilion, Feeding difficulties in infancy, Frontal bossing, Gait disturbance, Generalized hypotonia, High palate, Highly arched eyebrow, Hyperconvex fingernails, Hyperextensibility of the finger joints, Hypertelorism, Hypodontia, Hypoplasia of the maxilla, Hypoplastic fingernail, Inguinal hernia, Intellectual disability, Joint hyperflexibility, Kyphoscoliosis, Kyphosis, Large hands, Long foot, Lumbar kyphosis, Mandibular prognathia, Microcephaly, Mitral regurgitation, Motor delay, Muscular hypotonia, Narrow iliac wings, Narrow palate, Neurological speech impairment, Open mouth, Pectus carinatum, Pectus excavatum, Pes planus, Progressive spasticity, Prominent forehead, Prominent supraorbital ridges, Protruding ear, Pseudoepiphyses of the metacarpals, Rectal prolapse, Redundant skin, Scoliosis, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Short distal phalanx of finger, Short metacarpal, Short stature, Single transverse palmar crease, Sporadic, Tapered finger, Telecanthus, Thick eyebrow, Thick lower lip vermilion, Thick nasal alae, Thick nasal septum, Thickened calvaria, Uterine prolapse, Ventriculomegaly, Wide mouth, Wide nose, Widely spaced teeth, X-linked dominant inheritance
Endothelial	ZIC2	1.967268787	6.28E-12	Transcription regulatory protein	BrainSpLMD|7546;BrainSpMouseDev|22529	OMIM|603073;HPO|7546|Abnormal facial shape, Autosomal dominant inheritance, Global developmental delay, Holoprosencephaly, Hydrocephalus, Intellectual disability, Microcephaly, Synophrys, Trigonocephaly
Endothelial	SPTSSA	1.834700959	6.53E-12	Unclassified	BrainSpLMD|171546	OMIM|613540
Endothelial	RPS18	0.519315293	6.75E-12	Ribosomal subunit	BrainSpLMD|6222	OMIM|180473
Endothelial	HLA.H	0.286863645	6.78E-12			
Endothelial	GIT2	0.906125365	6.95E-12	GTPase activating protein	BrainSpLMD|9815	OMIM|608564
Endothelial	AFF1	1.680888367	7.00E-12	Transcription factor	BrainSpLMD|4299	OMIM|159557;COSMIC||AL
Endothelial	PTPRM	1.697357044	7.18E-12	Receptor tyrosine phosphatase	BrainSpLMD|5797;Eurexp|euxassay_010519|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|176888
Endothelial	DNAJB4	1.670097484	7.19E-12	Heat shock protein	BrainSpLMD|11080	OMIM|611327
Endothelial	AC007319.1	3.050869871	7.29E-12			
Endothelial	ZFAND2A	1.826545891	7.55E-12	RNA binding protein	BrainSpLMD|90637	OMIM|610699
Endothelial	SNRK	1.67847878	7.69E-12	Serine/threonine kinase	BrainSpLMD|54861	OMIM|612760
Endothelial	FGD6	1.517005023	7.80E-12	Unclassified	BrainSpLMD|55785	OMIM|613520
Endothelial	IRF1	1.870363498	7.84E-12	Transcription regulatory protein	BrainSpLMD|3659;Eurexp|euxassay_003661|midgut, testis, thymus primordium;BrainSpMouseDev|16135	OMIM|147575;HPO|3659|Alveolar cell carcinoma, Autosomal recessive inheritance, Somatic mutation, Stomach cancer
Endothelial	SNAI1	1.109022896	7.98E-12	Transcription regulatory protein	BrainSpLMD|6615	OMIM|604238
Endothelial	GBP3	2.803143961	8.07E-12	GTPase	BrainSpLMD|2635	OMIM|600413
Endothelial	LRRC8C	2.432765785	9.28E-12	Anchor protein	BrainSpLMD|84230	OMIM|612889
Endothelial	CDH11	1.279047688	9.50E-12	Cell junction protein	BrainSpLMD|1009;BrainSpMouseDev|12337	SFARI||Autism, No category;OMIM|600023;COSMIC||aneurysmal bone cyst
Endothelial	RELL1	2.449392297	9.65E-12	Unclassified	BrainSpLMD|768211	OMIM|611212
Endothelial	TNFAIP3	3.772819538	9.83E-12	Transcription regulatory protein	BrainSpLMD|7128	OMIM|191163;COSMIC||marginal zone B-cell lymphomas, Hodgkin lymphoma, PMBL;HPO|7128|Autosomal dominant inheritance
Endothelial	SLC16A1	2.318821829	9.99E-12	Membrane transport protein	BrainSpLMD|6566;Eurexp|euxassay_003351|Meckel's cartilage, axial muscle, capsule, clavicle, epidermis, foregut-midgut junction, glomeruli, hindgut, incisor, left lung, lobe, loop, marginal layer, meninges, midgut, molar, nasal septum, olfactory, pancreas, rectum, right lung, submandibular gland primordium, testis, thymus primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|600682;HPO|6566|Autosomal dominant inheritance, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise-induced muscle cramps, Exercise-induced muscle fatigue, Exercise-induced muscle stiffness, Feeding difficulties, Global developmental delay, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability, Ketoacidosis, Ketotic hypoglycemia, Pancreatic islet-cell hyperplasia
Endothelial	MAP4K2	1.477717827	1.04E-11	Serine/threonine kinase	BrainSpLMD|5871	OMIM|603166
Endothelial	ZEB1	1.31214931	1.05E-11	Transcription factor	BrainSpLMD|6935;Eurexp|euxassay_015398|central nervous system, meninges, vertebral axis muscle system;BrainSpMouseDev|21178	OMIM|189909;COSMIC||CCRCC, melanoma;HPO|6935|Autosomal dominant inheritance, Corneal dystrophy, Corneal guttata
Endothelial	SLC3A2	1.844046201	1.12E-11	Membrane transport protein	BrainSpLMD|6520;Eurexp|euxassay_007752|incisor, liver, mantle layer, meninges, midgut, molar, submandibular gland primordium, thymus primordium, vibrissa	OMIM|158070
Endothelial	ZNF521	1.475720499	1.14E-11	Transcription regulatory protein	BrainSpLMD|25925;BrainSpMouseDev|86218	OMIM|610974;COSMIC||ALL
Endothelial	ATRAID	1.45211193	1.28E-11	Unclassified	BrainSpLMD|51374	
Endothelial	SNTB1	2.348947388	1.36E-11	Adapter molecule	BrainSpLMD|6641;BrainSpMouseDev|20411	OMIM|600026
Endothelial	TENC1	1.722754233	1.38E-11			
Endothelial	ITPRIPL2	2.209647898	1.40E-11	Unclassified		
Endothelial	PARVB	1.710158513	1.42E-11	Adhesion molecule	BrainSpLMD|29780;Eurexp|euxassay_007690|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, left, mandible, mantle layer, maxilla, molar, neural retina, palatal shelf, pituitary, right, roof plate, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|82039	OMIM|608121
Endothelial	PSME1	2.093323668	1.45E-11	Ubiquitin proteasome system protein	BrainSpLMD|5720	OMIM|600654
Endothelial	PELO	2.087616587	1.57E-11	Cell cycle control protein	Eurexp|euxassay_002572|orbito-sphenoid	OMIM|605757
Endothelial	CPD	2.036362043	1.59E-11	Carboxypeptidase	BrainSpLMD|1362;Eurexp|euxassay_018661|penis, submandibular gland primordium	OMIM|603102
Endothelial	PTGS2	3.409383514	1.62E-11	Enzyme: Synthase	BrainSpLMD|5743;BrainSpMouseDev|18988	SFARI||Autism, 4 - Minimal evidence;OMIM|600262
Endothelial	VAV3	1.42310938	1.68E-11	Guanine nucleotide exchange factor	BrainSpLMD|10451;Eurexp|euxassay_011323|bladder, calyces, cochlea, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, incisor, larynx, liver, mantle layer, mesenchyme, midgut, molar, neural retina, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, rest of skin, stomach, submandibular gland primordium, thymus primordium, trigeminal V, ureter, utricle, vagus X, ventricle, vibrissa	OMIM|605541
Endothelial	ICAM1	4.002215945	1.68E-11	Adhesion molecule	BrainSpLMD|3383;Eurexp|euxassay_006087|left lung, right lung, thymus primordium	OMIM|147840
Endothelial	LPHN2	2.05464918	1.69E-11			
Endothelial	CDH6	2.271599882	1.69E-11	Adhesion molecule	BrainSpLMD|1004;BrainSpMouseDev|12348	OMIM|603007
Endothelial	SAMD9L	2.92511865	1.74E-11	Unclassified	BrainSpLMD|219285	OMIM|611170;HPO|219285|Abnormality of macrophages, Abnormality of neutrophils, Acute myelomonocytic leukemia, Ankle clonus, Aplasia/Hypoplasia of the cerebellum, Ataxia, Autosomal dominant inheritance, Babinski sign, Cerebellar atrophy, Decreased nerve conduction velocity, Dysarthria, Dysmetria, Hyperactive deep tendon reflexes, Hyperreflexia, Hypoplastic anemia, Impaired vibration sensation in the lower limbs, Neurological speech impairment, Nystagmus, Pancytopenia, Recurrent respiratory infections, Splenomegaly, Unsteady gait, Variable expressivity
Endothelial	CD9	2.240157875	1.86E-11	Unclassified	BrainSpLMD|928;Eurexp|euxassay_001933|axial skeleton, bladder, calyces, cervical, cervico-thoracic, foregut-midgut junction, hindgut, lung, midgut, nucleus pulposus, oesophagus, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, rectum, stomach, submandibular gland primordium, thoracic, thymus primordium, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|12312	OMIM|143030
Endothelial	KLHL6.AS1	1.797354343	1.99E-11			
Endothelial	LTBR	3.646653581	2.03E-11	Cytokine receptor	BrainSpLMD|4055;Eurexp|euxassay_011223|clavicle, humerus, mandible, maxilla, mesenchyme, orbito-sphenoid, rib, wall	OMIM|600979
Endothelial	C14orf119	1.586082238	2.18E-11	Unclassified		
Endothelial	KB.1732A1.1	2.444908536	2.24E-11			
Endothelial	GIMAP2	4.349352986	2.27E-11	GTPase	BrainSpLMD|26157	OMIM|608085
Endothelial	CEBPD	1.699361717	2.33E-11	Transcription factor	BrainSpLMD|1052;BrainSpMouseDev|12394	OMIM|116898
Endothelial	SLC26A2	2.019693814	2.46E-11	Transport/cargo protein	BrainSpLMD|1836;Eurexp|euxassay_008150|basioccipital bone, basisphenoid bone, cervical region, clavicle, exoccipital bone, fibula, lumbar region, mandible, metatarsus, nasal septum, orbito-sphenoid, otic capsule, petrous part, rib, sacral region, stomach, tarsus, thoracic region, thyroid, tibia, trachea, turbinate	OMIM|606718;HPO|1836|Abdominal distention, Abnormal enchondral ossification, Abnormal form of the vertebral bodies, Abnormality of epiphysis morphology, Abnormality of metabolism/homeostasis, Abnormality of the clavicle, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the patella, Abnormality of the ribs, Absent or minimally ossified vertebral bodies, Anteverted nares, Aplasia/Hypoplasia of the lungs, Arthralgia, Autosomal recessive inheritance, Blue sclerae, Bowing of the long bones, Brachydactyly, Breech presentation, Camptodactyly of finger, Cervical kyphosis, Cleft palate, Clinodactyly of the 5th finger, Coronal cleft vertebrae, Costal cartilage calcification, Cystic lesions of the pinnae, Depressed nasal bridge, Disproportionate short stature, Disproportionate short-limb short stature, Dumbbell-shaped femur, Edema, Epiphyseal dysplasia, Femoral hernia, Flat acetabular roof, Flat capital femoral epiphysis, Flat face, Flattened epiphysis, Frontal bossing, Full cheeks, Glabellar hemangioma, Hearing impairment, Hip contracture, Hip dysplasia, Hitchhiker thumb, Hoarse voice, Horizontal sacrum, Hydrops fetalis, Hypertelorism, Hypertrophic auricular cartilage, Hypoplasia of the femoral head, Hypoplastic cervical vertebrae, Hypoplastic ilia, Increased bone mineral density, Inguinal hernia, Intrauterine growth retardation, Irregular epiphyses, Joint stiffness, Kyphoscoliosis, Kyphosis, Large earlobe, Laryngotracheal stenosis, Lethal skeletal dysplasia, Limited elbow flexion, Long philtrum, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Macrocephaly, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Multiple epiphyseal dysplasia, Muscular hypotonia, Narrow chest, Neonatal short-limb short stature, Osteoarthritis, Overfolded helix, Platyspondyly, Polyhydramnios, Proximal placement of thumb, Pulmonary hypoplasia, Recurrent respiratory infections, Respiratory insufficiency, Sandal gap, Scoliosis, Severe short stature, Short finger, Short foot, Short long bone, Short metacarpal, Short middle phalanx of finger, Short neck, Short nose, Short ribs, Short sacroiliac notch, Short stature, Short thorax, Small hand, Spinal cord compression, Stillbirth, Symphalangism affecting the phalanges of the hand, Talipes equinovarus, Thickened nuchal skin fold, Thoracic hypoplasia, Ulnar deviation of finger, Umbilical hernia
Endothelial	HEG1	1.319987678	2.50E-11	Calcium binding protein	BrainSpLMD|57493;Eurexp|euxassay_005510|ventricular layer	OMIM|614182
Endothelial	TNFAIP8L1	1.459272774	2.63E-11	Unclassified	BrainSpLMD|126282	OMIM|615869
Endothelial	TRIM56	2.122068371	2.66E-11	Transcription regulatory protein	BrainSpLMD|81844	OMIM|616996
Endothelial	C4orf32	2.306978628	2.68E-11			
Endothelial	FAM89A	2.511190258	2.76E-11	Unclassified	BrainSpLMD|375061;Eurexp|euxassay_015959|facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	
Endothelial	MYADM	0.723719721	2.81E-11	Unclassified	BrainSpLMD|91663;Eurexp|euxassay_004288|femur, footplate, forelimb, hindlimb, mesenchyme, tail	OMIM|609959
Endothelial	TSPAN15	3.732033326	2.87E-11	Integral membrane protein	BrainSpLMD|23555;Eurexp|euxassay_000791|ventricular layer	OMIM|613140
Endothelial	CARD6	2.777642427	3.12E-11	Adapter molecule	BrainSpLMD|84674;Eurexp|euxassay_012170|lung, skeletal muscle, ventricle, vertebral axis muscle system	OMIM|609986
Endothelial	DGKE	1.722143746	3.12E-11	Enzyme: Phosphotransferase	BrainSpLMD|8526	OMIM|601440;HPO|8526|Acute kidney injury, Autosomal recessive inheritance, Nephrotic syndrome, Progressive, Proteinuria, Thickening of the glomerular basement membrane
Endothelial	CD82	2.261530176	3.12E-11	Integral membrane protein;Cell surface receptor	BrainSpLMD|3732;Eurexp|euxassay_011073|choroid plexus, footplate, lobe, meninges, mesenchyme, olfactory, rest of mesenchyme, skeletal muscle, thymus primordium, vertebral axis muscle system	OMIM|600623
Endothelial	CTD.2031P19.4	1.481330048	3.31E-11			
Endothelial	GUK1	1.872254273	3.57E-11	Enzyme: Phosphotransferase	BrainSpLMD|2987	OMIM|139270
Endothelial	ABCG1	1.998050106	3.66E-11	Transport/cargo protein	BrainSpLMD|9619;Eurexp|euxassay_007590|brain, dorsal root ganglion, inner ear, olfactory, pituitary, spinal cord, sternum, thymus primordium, trigeminal V	OMIM|603076
Endothelial	TMSB4X	0.710487582	3.88E-11	Cytoskeletal associated protein		OMIM|300159
Endothelial	SMIM3	0.449400071	3.92E-11	Unclassified	BrainSpLMD|85027;Eurexp|euxassay_006678|left, right, thyroid	OMIM|608324
Endothelial	RPS12	0.608727466	3.97E-11	Ribosomal subunit	BrainSpMouseDev|19805	OMIM|603660
Endothelial	SLC48A1	1.460980847	4.00E-11	Transport/cargo protein	BrainSpLMD|55652	OMIM|612187
Endothelial	KLF6	1.683592525	4.08E-11	Transcription factor	BrainSpLMD|1316;Eurexp|euxassay_018886|mantle layer, marginal layer;BrainSpMouseDev|23602	OMIM|602053;COSMIC||prostate, glioma;HPO|1316|Autosomal dominant inheritance, Prostate cancer, Somatic mutation, Stomach cancer
Endothelial	NKD2	1.147065492	4.28E-11	Unclassified	BrainSpLMD|85409;Eurexp|euxassay_004230|mandible, olfactory, respiratory, submandibular gland primordium, vibrissa;BrainSpMouseDev|48134	OMIM|607852
Endothelial	RBPMS	1.802470887	4.60E-11	RNA binding protein	BrainSpLMD|11030;Eurexp|euxassay_000586|foregut-midgut junction, hindgut, midgut, neural retina, oesophagus, stomach	OMIM|601558
Endothelial	CYB5A	1.563278798	4.87E-11	Enzyme: Oxidoreductase	BrainSpLMD|1528	OMIM|613218;HPO|1528|Abnormality of creatine metabolism, Abnormality of metabolism/homeostasis, Absence of secondary sex characteristics, Autosomal recessive inheritance, Cryptorchidism, Cyanosis, Decreased fertility in females, Decreased fertility in males, Decreased serum estradiol, Decreased serum testosterone level, Decreased testicular size, Delayed puberty, Delayed skeletal maturation, Dysmenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Hypoplasia of the vagina, Hypospadias, Infantile onset, Male pseudohermaphroditism, Methemoglobinemia, Micropenis, Osteoporosis, Primary amenorrhea, Primary gonadal insufficiency, Short stature, Sparse axillary hair, Sparse body hair, Sparse pubic hair
Endothelial	ANXA2	3.042666097	4.87E-11	Calcium binding protein	BrainSpLMD|302;Eurexp|euxassay_013682|basal plate, mantle layer, ventral grey horn;BrainSpMouseDev|12091	OMIM|151740
Endothelial	EHD2	2.912454917	5.08E-11	Unclassified	BrainSpLMD|30846	OMIM|605890
Endothelial	CD99	1.380878174	5.26E-11	Unclassified		OMIM|450000
Endothelial	TPD52	3.216599529	5.55E-11	Unclassified	BrainSpLMD|7163;Eurexp|euxassay_013711|bladder, cochlea, cortex, dorsal root ganglion, endolymphatic duct, epithelium, facial VII, glossopharyngeal IX, larynx, left lung, mantle layer, midgut, naso-lacrimal duct, neural retina, olfactory, pancreas, pharyngo-tympanic tube, pituitary, primitive seminiferous tubules, rectum, retina, right lung, stomach, submandibular gland primordium, tegmentum, thymus primordium, thyroid, trigeminal V, utricle, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|604068
Endothelial	BCL2L11	1.863993247	5.84E-11	Adapter molecule	BrainSpLMD|10018;Eurexp|euxassay_001763|cortex;BrainSpMouseDev|11911	OMIM|603827
Endothelial	DENND2C	1.776282505	6.07E-11	Unclassified	BrainSpLMD|163259;Eurexp|euxassay_008462|epidermis, liver, pharyngo-tympanic tube, thymus primordium	
Endothelial	ITGB1P1	1.381841781	6.09E-11			
Endothelial	MIR22HG	1.674419343	6.41E-11		BrainSpLMD|84981	
Endothelial	PDE4B	2.023827525	6.48E-11	Enzyme: Phosphodiesterase	BrainSpLMD|5142;Eurexp|euxassay_018064|cochlea, mantle layer, utricle	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600127
Endothelial	BTNL9	2.528997786	6.85E-11	Integral membrane protein	BrainSpLMD|153579	
Endothelial	PDCL3P5	3.372370362	6.97E-11			
Endothelial	GSDMD	0.62253114	7.33E-11	Unclassified	BrainSpLMD|79792;Eurexp|euxassay_003539|hindgut, midgut, oral region, rectum, thymus primordium	OMIM|617042
Endothelial	MFNG	1.756183446	7.68E-11	Enzyme: Glucosaminyltransferase	BrainSpLMD|4242;Eurexp|euxassay_018043|bladder, hindgut, lung, metanephros, midgut, neural retina, oesophagus, olfactory, pituitary, stomach, thymus primordium, ventricular layer, vomeronasal organ	OMIM|602577
Endothelial	IFNGR1	2.140644099	7.86E-11	Cytokine receptor	BrainSpLMD|3459;Eurexp|euxassay_002874|Meckel's cartilage, chondrocranium, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, rectum, stomach, thymus primordium	SFARI||Autism, 5 - Hypothesized but untested;OMIM|107470;HPO|3459|Abnormality of abdomen morphology, Abnormality of blood and blood-forming tissues, Autosomal dominant inheritance, Autosomal recessive inheritance, Generalized lymphadenopathy, Immunodeficiency, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteomyelitis
Endothelial	WWC2	0.883666037	7.87E-11	Unclassified	BrainSpLMD|80014	
Endothelial	CD2AP	1.160694393	7.93E-11	Adapter molecule	BrainSpLMD|23607;Eurexp|euxassay_018806|mandible, maxilla, submandibular gland primordium, vibrissa	OMIM|604241;HPO|23607|Focal segmental glomerulosclerosis, Hematuria, Hypertension, Proteinuria, Renal insufficiency
Endothelial	UBC	1.203515028	7.97E-11	Ubiquitin proteasome system protein	BrainSpLMD|7316	OMIM|191340
Endothelial	FKBP9P1	1.620057736	8.43E-11	Calcium binding protein		
Endothelial	ATP6V0E1	1.269870524	8.59E-11	ATPase	BrainSpLMD|8992;Eurexp|euxassay_002321|Meckel's cartilage, basisphenoid bone, orbito-sphenoid, turbinate	OMIM|603931
Endothelial	SNORD14E	1.953777512	8.77E-11			
Endothelial	PEAK1	0.927123818	9.07E-11	Tyrosine kinase		OMIM|614248
Endothelial	ZMYM6NB	1.176457049	9.24E-11			
Endothelial	WIPI1	1.428117959	9.80E-11	Ligand	BrainSpLMD|55062;Eurexp|euxassay_012594|floor plate, floorplate	OMIM|609224
Endothelial	MT.RNR2	0.930763891	1.00E-10			
Endothelial	MT.TV	1.948079126	1.03E-10			
Endothelial	CXCL8	0.879628826	1.06E-10	Cytokine	BrainSpLMD|3576	OMIM|146930
Endothelial	PFN1	1.110887038	1.09E-10	Cytoskeletal associated protein	BrainSpLMD|5216	OMIM|176610;HPO|5216|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dysarthria, Dysphagia, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Muscle weakness, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
Endothelial	PPIC	2.932751047	1.11E-10	Chaperone	BrainSpLMD|5480	OMIM|123842
Endothelial	LHFP	1.75965029	1.11E-10			
Endothelial	PAPSS2	1.972763458	1.12E-10	Enzyme: Ligase	BrainSpLMD|9060;Eurexp|euxassay_005940|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, digit 1, digit 2, digit 3, digit 4, digit 5, exoccipital bone, femur, fibula, footplate, handplate, humerus, hyoid bone, naris, nasal septum, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones, valve, vault of skull	OMIM|603005;HPO|9060|Acne, Autosomal recessive inheritance, Bowing of the legs, Brachydactyly, Hirsutism, Irregular vertebral endplates, Kyphoscoliosis, Lower limb undergrowth, Lumbar scoliosis, Platyspondyly, Premature pubarche, Secondary amenorrhea, Short stature, Spondyloepimetaphyseal dysplasia
Endothelial	CYSTM1	1.849462153	1.17E-10	Unclassified	BrainSpLMD|84418	
Endothelial	TJP2	2.224221915	1.25E-10	Cell junction protein	BrainSpLMD|9414	OMIM|607709;HPO|9414|Autosomal recessive inheritance, Failure to thrive, Hepatic failure, Hepatocellular carcinoma, Increased serum bile acid concentration, Intrahepatic cholestasis, Portal hypertension, Progressive, Pruritus, Rickets, Steatorrhea, Vitamin K deficiency
Endothelial	RP11.295G20.2	1.876568593	1.37E-10			
Endothelial	RRBP1	1.59655496	1.38E-10	Integral membrane protein	BrainSpLMD|6238	OMIM|601418
Endothelial	LEPR	2.320018254	1.41E-10	Cell surface receptor	BrainSpLMD|3953;Eurexp|euxassay_010749|axial skeleton, footplate, handplate, mandible, maxilla, meninges, mesenchyme, otic capsule, palatal shelf, pelvic girdle, petrous part, rib, scapula;BrainSpMouseDev|16618	OMIM|601007;HPO|3953|Abnormal hypothalamus morphology, Absence of secondary sex characteristics, Accelerated skeletal maturation, Aggressive behavior, Decreased T cell activation, Decreased number of CD4+ T cells, Decreased serum estradiol, Decreased serum leptin, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Emotional lability, Growth hormone deficiency, Gynecomastia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hypertriglyceridemia, Hypoplasia of the ovary, Immune dysregulation, Insulin-resistant diabetes mellitus, Obesity, Orthostatic hypotension due to autonomic dysfunction, Pituitary hypothyroidism, Polyphagia, Primary amenorrhea, Recurrent upper respiratory tract infections
Endothelial	VAMP3	1.915454443	1.43E-10	Integral membrane protein	BrainSpLMD|9341	OMIM|603657
Endothelial	CMTM7	2.735715156	1.53E-10	Unclassified	BrainSpLMD|112616;Eurexp|euxassay_009971|thymus primordium	OMIM|607890
Endothelial	TSPAN9	1.197657036	1.56E-10	Adhesion molecule	BrainSpLMD|10867;Eurexp|euxassay_006763|bladder, corpus striatum, diaphragm, extraembryonic component, footplate, handplate, loop, mantle layer, midgut, oesophagus, paraxial mesenchyme, rectum, rest of mesenchyme, skeletal muscle, stomach, trigeminal V, vertebral axis muscle system	OMIM|613137
Endothelial	MEOX2	3.267235966	1.63E-10	Transcription factor	BrainSpLMD|4223;Eurexp|euxassay_008785|axial skeleton, clavicle, cochlea, diaphragm, exoccipital bone, lung, mesenchyme, metanephros, oesophagus, orbito-sphenoid, palatal shelf, rest of mesenchyme, stomach, tongue, vault of skull, vertebral axis muscle system, vibrissa;BrainSpMouseDev|17055	OMIM|600535
Endothelial	CRIM1	1.741586408	1.65E-10	Integral membrane protein	BrainSpLMD|51232;Eurexp|euxassay_014038|lens, mantle layer, physiological umbilical hernia, ventral grey horn, vibrissa	OMIM|606189
Endothelial	NEK7	1.6987216	1.66E-10	Serine/threonine kinase	BrainSpLMD|140609;Eurexp|euxassay_018629|mantle layer, olfactory;BrainSpMouseDev|37685	OMIM|606848
Endothelial	ANXA2P2	2.868587849	1.73E-10		BrainSpLMD|304	
Endothelial	CCDC85B	1.007624682	1.73E-10	Unclassified	BrainSpLMD|11007	OMIM|605360
Endothelial	IFIH1	3.955538091	1.74E-10	ATPase	BrainSpLMD|64135	OMIM|606951;HPO|64135|Absent speech, Aortic arch calcification, Aortic valve calcification, Aortic valve stenosis, Arrhinencephaly, Atopic dermatitis, Autosomal dominant inheritance, Basal ganglia calcification, Broad forehead, Cardiomegaly, Carious teeth, Cerebral atrophy, Cleft eyelid, Congestive heart failure, Coxa valga, Cutaneous photosensitivity, Decreased body weight, Dystonia, Expanded metacarpals with widened medullary cavities, Expanded metatarsals with widened medullary cavities, Expanded phalanges with widened medullary cavities, Feeding difficulties, Generalized hypotonia, Genu valgum, Glaucoma, Global developmental delay, Hemiplegia/hemiparesis, High anterior hairline, Hip dislocation, Hip subluxation, Hypoplasia of the maxilla, Hypoplasia of the tooth germ, Hypoplastic distal radial epiphyses, Incomplete penetrance, Intellectual disability, Intellectual disability, profound, Intrauterine growth retardation, Irritability, Mitral valve calcification, Muscle weakness, Muscular hypotonia of the trunk, Myopia, Onycholysis, Osteolytic defects of the phalanges of the hand, Osteoporosis, Pes cavus, Porencephalic cyst, Recurrent respiratory infections, Shallow acetabular fossae, Short stature, Smooth philtrum, Spastic tetraparesis, Spasticity, Subvalvular aortic stenosis, Talipes equinovarus, Tendon rupture, Unerupted tooth, Variable expressivity, Vasculitis, Waddling gait
Endothelial	MAP3K1	0.806547541	1.75E-10	Serine/threonine kinase	Eurexp|euxassay_011095|calyces, incisor, larynx, mantle layer, molar, naris, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, renal/urinary system, sublingual gland primordium, submandibular gland primordium, thyroid, vibrissa	OMIM|600982;COSMIC||luminal A breast, 46, XY sex reversal 6;HPO|4214|Abnormal sex determination, Abnormality of the labia, Abnormality of the scrotum, Ambiguous genitalia, Autosomal dominant inheritance, Azoospermia, Chordee, Clitoral hypertrophy, Cryptorchidism, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Dysgerminoma, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,XY karyotype, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hypergonadotropic hypogonadism, Hypogonadotrophic hypogonadism, Hypoplasia of the vagina, Hypospadias, Male infertility, Male pseudohermaphroditism, Micropenis, Osteoporosis, Polycystic ovaries, Primary amenorrhea, Sex reversal, Sparse axillary hair, Sparse pubic hair, Streak ovary, Testicular dysgenesis, Urogenital sinus anomaly, Vanishing testis
Endothelial	AXIN2	2.593246829	1.76E-10	Unclassified	BrainSpLMD|8313;Eurexp|euxassay_005683|adenohypophysis, epithelium, heart, inner ear, lung, mantle layer, meninges, metanephros, molar, oral epithelium, pharyngo-tympanic tube, rest of skin, skin, thalamus, ventricular layer, vibrissa;BrainSpMouseDev|11792	OMIM|604025;COSMIC||colorectal carcinoma, stomach carcinoma, hepatocellular carcinoma, colorectal carcinoma;HPO|8313|Autosomal dominant inheritance, Hereditary nonpolyposis colorectal carcinoma, Hypoplasia of the maxilla, Microdontia, Micrognathia, Neoplasm of the stomach, Oligodontia, Renal cell carcinoma, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma
Endothelial	KIAA0247	1.354094879	1.88E-10			
Endothelial	TPM3	1.428451721	2.01E-10	Cytoskeletal associated protein;Structural protein	BrainSpLMD|7170	OMIM|191030;COSMIC||papillary thyroid, ALCL, NSCLC, Spitzoid tumour;HPO|7170|Autosomal dominant inheritance, Autosomal recessive inheritance, Bulbar palsy, Centrally nucleated skeletal muscle fibers, Congenital onset, Decreased fetal movement, Dilated cardiomyopathy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Dysphagia, EMG: myopathic abnormalities, Facial diplegia, Facial palsy, Failure to thrive, Feeding difficulties, Flexion contracture, Generalized muscle weakness, Heterogeneous, High palate, Juvenile onset, Long face, Lumbar hyperlordosis, Motor delay, Muscular hypotonia, Myopathy, Narrow face, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Pectus excavatum, Pes cavus, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Reduced tendon reflexes, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scoliosis, Shoulder girdle muscle atrophy, Type 1 fibers relatively smaller than type 2 fibers, Variable expressivity, Weak cry
Endothelial	CAPNS1	1.159661122	2.04E-10	Regulatory/other subunit	BrainSpLMD|826;Eurexp|euxassay_007147|mantle layer, nucleus pulposus, ventral grey horn	OMIM|114170
Endothelial	AC106788.1	1.549366734	2.10E-10			
Endothelial	ARHGEF28	2.65309604	2.29E-10		BrainSpLMD|64283;Eurexp|euxassay_002393|cervical, cervico-thoracic, thoracic	OMIM|612790
Endothelial	TFRC	2.282687597	2.30E-10	Membrane transport protein	BrainSpLMD|7037;Eurexp|euxassay_005557|left, left lung, meninges, midgut, right, right lung, stomach, submandibular gland primordium	OMIM|190010;COSMIC||NHL;HPO|7037|Autosomal recessive inheritance, Decreased antibody level in blood, Neutropenia
Endothelial	PPARD	1.078929963	2.38E-10	Nuclear receptor	BrainSpLMD|5467;BrainSpMouseDev|18778	OMIM|600409
Endothelial	SBDS	1.624400037	2.53E-10	Unclassified	BrainSpLMD|51119	OMIM|607444;COSMIC||AML, MDS;HPO|51119|Abnormality of the metaphysis, Acute myeloid leukemia, Anemia, Autosomal recessive inheritance, Coxa vara, Delayed skeletal maturation, Eczema, Elevated hepatic transaminases, Enlargement of the costochondral junction, Exocrine pancreatic insufficiency, Failure to thrive, Generalized hypotonia, Global developmental delay, Hepatomegaly, Ichthyosis, Intellectual disability, Intellectual disability, mild, Irregular ossification at anterior rib ends, Malabsorption, Metaphyseal chondrodysplasia, Metaphyseal sclerosis, Metaphyseal widening, Myelodysplasia, Myocardial necrosis, Narrow chest, Narrow sacroiliac notch, Neonatal respiratory distress, Nephrocalcinosis, Neutropenia, Osteopenia, Ovoid vertebral bodies, Pancytopenia, Persistence of hemoglobin F, Proximal femoral epiphysiolysis, Recurrent infections, Short stature, Small for gestational age, Specific learning disability, Steatorrhea, Thrombocytopenia
Endothelial	JAM2	1.506492529	2.58E-10	Adhesion molecule	BrainSpLMD|58494	OMIM|606870
Endothelial	KIAA0040	1.450002556	2.59E-10	Unclassified	BrainSpLMD|9674	OMIM|616696
Endothelial	RGS3	2.88006021	2.63E-10	GTPase activating protein	BrainSpLMD|5998	OMIM|602189
Endothelial	ZCCHC24	1.887556297	2.68E-10	DNA binding protein	BrainSpLMD|219654	
Endothelial	CTA.29F11.1	1.20754701	2.74E-10			
Endothelial	CXCL2	3.786634566	2.75E-10	Chemokine	BrainSpLMD|2920	OMIM|139110
Endothelial	TNFRSF1B	1.677524461	2.91E-10	Cell surface receptor	BrainSpLMD|7133	OMIM|191191;HPO|7133|Abnormality of lymphocytes, Alopecia, Cutaneous T-cell lymphoma, Dry skin, Eczema, Erythema, Erythroderma, Hepatomegaly, Hypopigmented skin patches, Immunodeficiency, Irregular hyperpigmentation, Lichenification, Lymphadenopathy, Nail dystrophy, Neoplasm of the skin, Palmoplantar keratoderma, Poikiloderma, Pruritus, Skin plaque, Skin rash, Splenomegaly
Endothelial	RHOJ	1.902869519	3.02E-10	GTPase	BrainSpLMD|57381;Eurexp|euxassay_002084|alimentary system, cavities and their linings, gland, integumental system, limb, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, tail, vertebral axis muscle system	OMIM|607653
Endothelial	SETX	0.685224786	3.34E-10	DNA helicase	BrainSpLMD|23064	OMIM|608465;HPO|23064|Abnormal lower motor neuron morphology, Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Amyotrophic lateral sclerosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Axonal degeneration, Babinski sign, Decreased motor nerve conduction velocity, Degeneration of anterior horn cells, Difficulty walking, Diffuse axonal swelling, Distal muscle weakness, Elevated serum creatine phosphokinase, Gaze-evoked nystagmus, Hyperreflexia, Impaired distal vibration sensation, Increased antibody level in blood, Limb ataxia, Pallor of dorsal columns of the spinal cord, Pes cavus, Polyneuropathy, Pontocerebellar atrophy, Progressive, Progressive gait ataxia, Saccadic smooth pursuit, Slow progression, Variable expressivity
Endothelial	FHOD1	1.876760735	3.44E-10	Cytoskeletal associated protein	BrainSpLMD|29109;Eurexp|euxassay_008535|brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606881
Endothelial	NUCB1	2.170260596	3.45E-10	Calcium binding protein		OMIM|601323
Endothelial	CCNL1	0.86474727	3.46E-10	RNA binding protein	BrainSpLMD|57018	OMIM|613384
Endothelial	NR4A1	1.837604608	3.50E-10	Nuclear receptor	BrainSpLMD|3164;Eurexp|euxassay_007083|adrenal gland, clavicle, mandible, peripheral nervous system, submandibular gland primordium, testis, vibrissa;BrainSpMouseDev|15145	OMIM|139139
Endothelial	PTPRG	1.376617035	3.51E-10	Receptor tyrosine phosphatase	BrainSpLMD|5793	OMIM|176886
Endothelial	MDFIC	1.163437165	3.51E-10	Unclassified	BrainSpLMD|29969;Eurexp|euxassay_013974|choroid invagination, choroid plexus	OMIM|614511
Endothelial	JUN	1.560498576	3.63E-10	Transcription factor	BrainSpLMD|3725;Eurexp|euxassay_017995|mantle layer, metacarpus, metatarsus, olfactory, phalanx, ventral grey horn, ventricular layer;BrainSpMouseDev|16249	OMIM|165160;COSMIC||sarcoma
Endothelial	CPNE8	0.994277963	3.85E-10	Unclassified	BrainSpLMD|144402	
Endothelial	TMEM204	1.951832946	3.90E-10	Cell junction protein;Unclassified	BrainSpLMD|79652	OMIM|611002
Endothelial	RPL3	0.893749853	3.96E-10	Ribosomal subunit		OMIM|604163
Endothelial	CPT1A	1.920032943	4.03E-10	Enzyme: Palmitoyltransferase	BrainSpLMD|1374;Eurexp|euxassay_017982|adrenal gland, bladder, choroid plexus, dorsal root ganglion, glossopharyngeal IX, hindgut, intermediate grey horn, mantle layer, meninges, metanephros, midgut, pancreas, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|600528;HPO|1374|Arrhythmia, Autosomal recessive inheritance, Behavioral abnormality, Cardiomegaly, Coma, Diarrhea, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Fatigue, Feeding difficulties in infancy, Generalized hypotonia, Hemiplegia/hemiparesis, Hepatic failure, Hepatic steatosis, Hepatomegaly, Hyperammonemia, Hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Loss of consciousness, Muscular hypotonia, Neurological speech impairment, Prenatal maternal abnormality, Recurrent encephalopathy, Reduced tendon reflexes, Renal tubular acidosis, Seizures, Skeletal muscle atrophy, Transient hyperlipidemia
Endothelial	MANSC1	2.029529643	4.39E-10	Unclassified	BrainSpLMD|54682	
Endothelial	ELK4	0.868082932	4.41E-10	Transcription factor	BrainSpLMD|2005;BrainSpMouseDev|13492	OMIM|600246;COSMIC||prostate
Endothelial	RAB11FIP5	0.756955859	4.52E-10	Transport/cargo protein	BrainSpLMD|26056	SFARI||Autism, No category;OMIM|605536
Endothelial	SH2B3	0.794195499	4.63E-10	Adapter molecule	BrainSpLMD|10019;Eurexp|euxassay_003586|molar	OMIM|605093;COSMIC||MPN, sAML, erythrocytosis, B-ALL, Coeliac disease type 13, diabetes mellitus, insulin-dependent,;HPO|10019|Abnormal platelet morphology, Abnormality of the skeletal system, Acrocyanosis, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Cerebral hemorrhage, Chest pain, Exertional dyspnea, Fatigue, Headache, Hypertension, Impaired platelet aggregation, Increased hematocrit, Increased hemoglobin, Increased megakaryocyte count, Increased red blood cell mass, Myelofibrosis, Myeloproliferative disorder, Myocardial infarction, Paresthesia, Peripheral thrombosis, Plethora, Prolonged bleeding time, Somatic mutation, Splenomegaly, Thrombocytosis, Transient ischemic attack, Venous thrombosis, Vertigo
Endothelial	LIMS1	1.465397053	4.68E-10	Adapter molecule	BrainSpLMD|3987;Eurexp|euxassay_003410|4th ventricle, bladder, gut, heart, incisor, liver, liver and biliary system, lung, metanephros, molar, stomach, submandibular gland primordium, tongue, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|74984	OMIM|602567
Endothelial	ZNF503	0.695667511	4.76E-10	Unclassified	BrainSpLMD|84858	OMIM|613902
Endothelial	LAMA2	2.79882763	4.87E-10	Extracellular matrix protein	BrainSpLMD|3908	OMIM|156225;HPO|3908|Abnormal brainstem MRI signal intensity, Abnormal cortical gyration, Abnormality of the temporomandibular joint, Areflexia, Aspiration, Astrocytosis, Autosomal recessive inheritance, Cerebral edema, Chewing difficulties, Congenital muscular dystrophy, Congenital onset, Elevated serum creatine phosphokinase, Facial palsy, Feeding difficulties in infancy, Flexion contracture, Gastroesophageal reflux, Generalized hypotonia, Highly elevated creatine phosphokinase, Hypointensity of cerebral white matter on MRI, Hypokinesia, Inability to walk, Increased connective tissue, Intellectual disability, Kyphoscoliosis, Macroglossia, Motor delay, Muscle fiber atrophy, Muscular dystrophy, Myositis, Recurrent lower respiratory tract infections, Respiratory failure, Respiratory insufficiency due to muscle weakness, Seizures, Weak cry
Endothelial	RPS6	0.586713145	4.89E-10	Ribosomal subunit	BrainSpLMD|6194	OMIM|180460
Endothelial	GADD45A	2.538171382	4.98E-10	DNA repair protein	BrainSpLMD|1647;Eurexp|euxassay_004250|liver, olfactory, retina	OMIM|126335
Endothelial	SERPINB1	1.498537685	5.04E-10	Protease inhibitor	BrainSpLMD|1992;Eurexp|euxassay_014473|3rd ventricle, 4th ventricle, choroid plexus, dermis, diencephalon, dorsal grey horn, epithalamus, foregut-midgut junction, hindgut, incisor, liver, lobe, loop, mantle layer, meninges, mesenchyme, midgut, naris, nervous system, pancreas, rectum, thymus primordium, tongue, ventricular layer, wall;BrainSpMouseDev|42065	OMIM|130135
Endothelial	BTBD19	2.425484445	5.15E-10			
Endothelial	ENTPD1	1.327280691	5.16E-10	Enzyme: Hydrolase	BrainSpLMD|953	OMIM|601752;HPO|953|Aggressive behavior, Autosomal recessive inheritance, Delayed puberty, Dysarthria, Gait disturbance, Intellectual disability, Intellectual disability, moderate, Skeletal muscle atrophy
Endothelial	SNTB2	0.611290317	5.62E-10	Adapter molecule	BrainSpLMD|6645	OMIM|600027
Endothelial	TAPBP	1.536047152	5.63E-10	Chaperone	BrainSpLMD|6892;Eurexp|euxassay_009813|dorsal root ganglion, facial VII, glossopharyngeal IX, thymus primordium, trigeminal V, ventral grey horn	OMIM|601962;HPO|6892|Autosomal recessive inheritance, Bronchiectasis, Bronchiolitis, Chronic otitis media, Chronic sinusitis, Ectopia lentis, Emphysema, Nasal polyposis, Recurrent bronchitis, Skin ulcer
Endothelial	TIMP3	1.912352962	5.71E-10	Extracellular matrix protein	BrainSpLMD|7078;Eurexp|euxassay_015320|associated mesenchyme, atrio-ventricular cushion tissue, cardiac muscle, choroid plexus, diaphragm, epidermal component, head mesenchyme, incisor, limb, liver, mantle layer, midgut, molar, muscular part, nasal capsule, stomach, trunk mesenchyme, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa, visceral pericardium	OMIM|188826;HPO|7078|Autosomal dominant inheritance, Macular dystrophy
Endothelial	OSTC	1.016424592	5.86E-10	Integral membrane protein	BrainSpLMD|58505;Eurexp|euxassay_003969|Meckel's cartilage, clavicle, cranium, rib, turbinate	
Endothelial	DRAM1	1.717981064	5.96E-10	Integral membrane protein	BrainSpLMD|55332	OMIM|610776
Endothelial	BNIP2	0.800422787	5.97E-10	GTPase activating protein	BrainSpLMD|663	OMIM|603292
Endothelial	CD320	2.080496875	6.05E-10	Unclassified	BrainSpLMD|51293	OMIM|606475;HPO|51293|Autosomal recessive inheritance, Methylmalonic aciduria
Endothelial	CALD1	1.617559084	6.10E-10	Cytoskeletal associated protein	BrainSpLMD|800	OMIM|114213
Endothelial	SPCS3	1.069852861	6.28E-10	Protease	BrainSpLMD|60559	
Endothelial	ERAP2	1.683790742	6.44E-10	Aminopeptidase	BrainSpLMD|64167	OMIM|609497
Endothelial	MAML2	0.45610522	6.55E-10	Transcription regulatory protein	BrainSpLMD|84441	OMIM|607537;COSMIC||salivary gland mucoepidermoid
Endothelial	FAM213A	1.53181992	7.07E-10	Unclassified	BrainSpLMD|84293;Eurexp|euxassay_008864|bladder, brain, calyces, cervical, cervico-thoracic, cochlea, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, incisor, left lung, liver, lung, midgut, molar, naris, nasal cavity, naso-lacrimal duct, olfactory, pelvis, pharyngo-tympanic tube, rectum, retina, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thoracic, trigeminal V, ureter, utricle, vagus X, vestibulocochlear VIII, vibrissa	OMIM|617165
Endothelial	RCSD1	2.055314809	7.12E-10	Unclassified	BrainSpLMD|92241;Eurexp|euxassay_003001|calyces, chondrocranium, foregut-midgut junction, glomeruli, hindgut, meninges, midgut, oesophagus, pelvis, rectum, stomach, thymus primordium	OMIM|610579
Endothelial	PROS1	1.801909366	7.92E-10	Coagulation factor	BrainSpLMD|5627;Eurexp|euxassay_009526|frenulum, incisor, liver, molar;BrainSpMouseDev|18891	OMIM|176880;HPO|5627|Arterial thrombosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cerebral hemorrhage, Cerebral venous thrombosis, Deep venous thrombosis, Disseminated intravascular coagulation, Hypercoagulability, Pulmonary embolism, Purpura, Reduced protein S activity, Retinopathy, Superficial thrombophlebitis, Thin skin, Thrombophlebitis, Warfarin-induced skin necrosis
Endothelial	MBNL1	1.398376568	8.13E-10	RNA binding protein	BrainSpLMD|4154	OMIM|606516
Endothelial	GCH1	2.658888763	8.45E-10	Enzyme: Hydrolase	BrainSpLMD|2643;BrainSpMouseDev|14304	OMIM|600225;HPO|2643|Abnormality of eye movement, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Childhood onset, Choreoathetosis, Dysphagia, Dystonia, Episodic fever, Excessive salivation, Gait ataxia, Global developmental delay, Heterogeneous, Hyperkinesis, Hyperphenylalaninemia, Hyperreflexia, Infantile onset, Intellectual disability, progressive, Irritability, Lethargy, Limb hypertonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Pes cavus, Phenotypic variability, Postural tremor, Progressive neurologic deterioration, Rigidity, Scoliosis, Seizures, Severe muscular hypotonia, Talipes equinovarus, Torticollis, Transient hyperphenylalaninemia, Tremor, Variable expressivity, Writer's cramp
Endothelial	PMP22	1.526687698	8.84E-10	Integral membrane protein	BrainSpLMD|5376	OMIM|601097;HPO|5376|Abnormality of the immune system, Acute demyelinating polyneuropathy, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Childhood onset, Cold-induced muscle cramps, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Gait ataxia, Gait disturbance, Generalized hypotonia, Hammertoe, Hearing impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Increased CSF protein, Infantile onset, Insidious onset, Juvenile onset, Kyphoscoliosis, Motor delay, Muscle weakness, Myelin outfoldings, Onion bulb formation, Paresthesia, Pes cavus, Scoliosis, Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Sensory ataxia, Slow progression, Split hand, Steppage gait, Talipes calcaneovalgus, Ulnar claw, Upper limb postural tremor, Variable expressivity, Vocal cord paralysis
Endothelial	HSP90B1	0.749370828	9.09E-10	Heat shock protein	BrainSpLMD|7184;Eurexp|euxassay_000099|body-wall mesenchyme, dermis, epidermis, nucleus pulposus	OMIM|191175
Endothelial	SCP2	1.401323666	9.30E-10	Membrane transport protein	BrainSpLMD|6342	SFARI||Autism, 4 - Minimal evidence;OMIM|184755;HPO|6342|Abnormal motor neuron morphology, Abnormality of saccadic eye movements, Abnormality of thalamus morphology, Autosomal recessive inheritance, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Hyposmia, Intention tremor, Leukoencephalopathy, Peripheral neuropathy, Torticollis
Endothelial	PDXK	1.903161961	9.49E-10	Enzyme: Phosphotransferase	BrainSpLMD|8566;Eurexp|euxassay_018332|clavicle, cortex, hindgut, incisor, lobe, lung, mandible, maxilla, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, rectum, submandibular gland primordium, thymus primordium, thyroid, urethra, ventricular layer, vibrissa, vomeronasal organ	OMIM|179020
Endothelial	RPS16	0.778871714	9.58E-10	Ribosomal subunit	BrainSpLMD|6217	OMIM|603675
Endothelial	CMTM6	1.159263223	9.77E-10	Integral membrane protein	BrainSpLMD|54918	OMIM|607889
Endothelial	CNTNAP3B	0.808237262	1.04E-09			
Endothelial	CCDC186	1.126824068	1.05E-09	Unclassified	BrainSpLMD|55088	
Endothelial	SIRPA	1.142386873	1.05E-09	Cell surface receptor	BrainSpLMD|140885;Eurexp|euxassay_013621|embryo, floor plate, floorplate, mantle layer, marginal layer	OMIM|602461;COSMIC||HNSCC, colorectal cancer, Lung SCC
Endothelial	TRIB2	0.869080085	1.06E-09	Serine/threonine kinase	BrainSpLMD|28951;BrainSpMouseDev|85202	OMIM|609462
Endothelial	ICA1	2.212485993	1.11E-09	Unclassified	BrainSpLMD|3382;Eurexp|euxassay_014251|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, pancreas, submandibular gland primordium, thyroid, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|147625
Endothelial	HSPA1A	1.652084139	1.15E-09	Chaperone	BrainSpLMD|3303;Eurexp|euxassay_005687|adrenal gland, testis, vibrissa	OMIM|140550
Endothelial	SH2D3C	0.749822147	1.18E-09	Adapter molecule	BrainSpLMD|10044	OMIM|604722
Endothelial	CPNE2	1.352103419	1.24E-09	Transport/cargo protein	BrainSpLMD|221184;Eurexp|euxassay_001619|choroid plexus, marginal layer, ventricular layer;BrainSpMouseDev|87854	OMIM|604206
Endothelial	PRDX6	1.032104352	1.28E-09	Enzyme: Peroxidase	BrainSpLMD|9588;Eurexp|euxassay_018727|floor plate, floorplate, hepatic duct, left lung, liver, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, olfactory, pancreas, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|602316
Endothelial	RP11.488L18.10	1.542207371	1.28E-09			
Endothelial	RSRP1	1.195787934	1.35E-09	Unclassified	BrainSpLMD|57035	
Endothelial	PLEC	1.421198454	1.36E-09	Anchor protein	BrainSpLMD|5339	OMIM|601282;HPO|5339|Abnormal blistering of the skin, Abnormality of dental enamel, Abnormality of the genitourinary system, Abnormality of the stomach, Alopecia, Anemia, Anonychia, Aphasia, Aplasia cutis congenita, Aplasia of the bladder, Arthrogryposis multiplex congenita, Atrophic scars, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary pterygia, Bruising susceptibility, Carious teeth, Congenital onset, Congenital pyloric atresia, Death in infancy, Deeply set eye, Dehydration, Dermal atrophy, Difficulty climbing stairs, Dysphagia, Dysphasia, Echolalia, Ectropion, Elevated maternal serum alpha-fetoprotein, Elevated serum creatine phosphokinase, Esophageal atresia, Failure to thrive, Flexion contracture, Fragile skin, Generalized muscle weakness, Glomerulosclerosis, Gowers sign, Hydronephrosis, Hyperconvex fingernails, Hypoplasia of dental enamel, Hypoplastic fingernail, Increased connective tissue, Intractable diarrhea, Junctional split, Keratitis, Limitation of joint mobility, Lumbar hyperlordosis, Microtia, Milia, Motor delay, Muscle flaccidity, Muscular dystrophy, Mutism, Myopathy, Nail dysplasia, Nail dystrophy, Neonatal respiratory distress, Oculomotor nerve palsy, Onychogryposis of toenails, Ophthalmoplegia, Oral mucosal blisters, Palmoplantar hyperkeratosis, Papule, Plantar hyperkeratosis, Polyhydramnios, Premature birth, Ptosis, Punctate keratitis, Rapidly progressive, Renal dysplasia, Scarring alopecia of scalp, Sepsis, Short stature, Skeletal muscle atrophy, Skin erosion, Skin fragility with non-scarring blistering, Skin vesicle, Thick nail, Underdeveloped nasal alae, Ureterocele, Urethral stricture
Endothelial	CRIP2	1.129443053	1.36E-09	Adapter molecule	BrainSpLMD|1397;Eurexp|euxassay_002192|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X, ventricle	OMIM|601183
Endothelial	IQGAP1	1.598426969	1.45E-09	GTPase activating protein	BrainSpLMD|8826;Eurexp|euxassay_010153|choroid plexus, epithelium, hindgut, lung, mandible, metanephros, midgut, oral epithelium, orbito-sphenoid, vibrissa	OMIM|603379
Endothelial	ST6GALNAC3	1.5821864	1.46E-09	Enzyme: Sialyltransferase	BrainSpLMD|256435	OMIM|610133
Endothelial	KLF9	2.956980633	1.47E-09	Transcription factor	BrainSpLMD|687;Eurexp|euxassay_012054|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, otic capsule, pelvic girdle, rib, temporal bone, tibia, turbinate	OMIM|602902
Endothelial	FNDC3B	1.800444756	1.47E-09	Integral membrane protein	BrainSpLMD|64778	OMIM|611909
Endothelial	CERS2	1.41387094	1.48E-09	Integral membrane protein	BrainSpLMD|29956	OMIM|606920
Endothelial	SLC50A1	2.124954724	1.48E-09	Integral membrane protein	BrainSpLMD|55974	OMIM|613683
Endothelial	IFIT3	1.270614531	1.51E-09	Unclassified	BrainSpLMD|3437;BrainSpMouseDev|15732	OMIM|604650
Endothelial	SLC16A4	2.095136921	1.51E-09	Membrane transport protein	BrainSpLMD|9122;Eurexp|euxassay_001537|choroid plexus, exoccipital bone, orbito-sphenoid, otic capsule, pectoral girdle and thoracic body wall, rib, turbinate	OMIM|603878
Endothelial	ANKS1A	1.46302733	1.57E-09	Adapter molecule	BrainSpLMD|23294;Eurexp|euxassay_005066|mantle layer, oculomotor III, olfactory, trochlear IV, ventral grey horn, ventricular layer	OMIM|608994
Endothelial	C17orf67	2.129749283	1.63E-09	Unclassified		
Endothelial	COX4I1	0.726489965	1.63E-09	Enzyme: Oxidoreductase	BrainSpLMD|1327	OMIM|123864
Endothelial	HAPLN3	3.704442769	1.69E-09	Adhesion molecule	BrainSpLMD|145864	
Endothelial	ITGB1	1.274766456	1.70E-09	Cell surface receptor	BrainSpLMD|3688;Eurexp|euxassay_010970|aorta, bladder, clavicle, floor plate, floorplate, lung, mandible, maxilla, midgut, oesophagus, orbito-sphenoid, rib, stomach, submandibular gland primordium;BrainSpMouseDev|16185	OMIM|135630
Endothelial	MGAT1	1.49791221	1.77E-09	Enzyme: Glucosaminyltransferase	BrainSpLMD|4245	OMIM|160995
Endothelial	PAWR	1.780821876	1.78E-09	Transcription regulatory protein	BrainSpLMD|5074;Eurexp|euxassay_014184|bladder, floor plate, floorplate, left lung, neural retina, olfactory, right lung, submandibular gland primordium, urethra, ventricular layer;BrainSpMouseDev|77498	OMIM|601936
Endothelial	IL4R	1.65965959	1.91E-09	Cytokine receptor	BrainSpLMD|3566;Eurexp|euxassay_009214|mantle layer, medulla, thymus primordium, trigeminal V	OMIM|147781
Endothelial	RP11.363E7.4	2.177168296	1.93E-09			
Endothelial	REEP3	0.602682688	2.08E-09	Unclassified	BrainSpLMD|221035;Eurexp|euxassay_004457|digit 1, digit 2, digit 3, digit 4, digit 5, footplate, handplate, lower leg, trigeminal V, valve, ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|609348
Endothelial	OLFML2A	2.941154326	2.12E-09	Unclassified	BrainSpLMD|169611	OMIM|615899
Endothelial	CDC42EP2	1.276124031	2.17E-09	GTPase activating protein	BrainSpLMD|10435	OMIM|606132
Endothelial	VMP1	1.809190264	2.19E-09	Integral membrane protein	BrainSpLMD|81671	OMIM|611753
Endothelial	MGAT4A	1.458303299	2.32E-09	Enzyme: Glucosaminyltransferase	BrainSpLMD|11320	OMIM|604623
Endothelial	CD40	1.843591648	2.37E-09	Cell surface receptor	BrainSpLMD|958	OMIM|109535;HPO|958|Absence of lymph node germinal center, Autosomal recessive inheritance, IgA deficiency, IgE deficiency, IgG deficiency, Immunodeficiency, Impaired Ig class switch recombination, Impaired memory B-cell generation, Increased IgM level, Neutropenia, Recurrent bacterial infections
Endothelial	LAPTM4A	1.233593255	2.42E-09	Membrane transport protein	BrainSpLMD|9741	
Endothelial	C10orf10	1.915435176	2.43E-09			
Endothelial	TMEM173	2.808255771	2.48E-09	Unclassified	BrainSpLMD|340061	OMIM|612374;HPO|340061|Anemia, Autosomal dominant inheritance, Cutis marmorata, Elevated erythrocyte sedimentation rate, Erythema, Failure to thrive, Fever, Follicular hyperplasia, Growth delay, Increased antibody level in blood, Interstitial pulmonary abnormality, Leukopenia, Malar rash, Nail dystrophy, Neonatal onset, Pustule, Recurrent respiratory infections, Telangiectasia, Thrombocytosis, Variable expressivity
Endothelial	STK3	0.840708373	2.54E-09	Serine/threonine kinase	BrainSpLMD|6788	OMIM|605030
Endothelial	ARSG	1.945175919	2.67E-09	Enzyme: Sulphatase	BrainSpLMD|22901;Eurexp|euxassay_007487|4th ventricle, choroid fissure, choroid plexus, ventricular layer	OMIM|610008
Endothelial	GATSL3	0.812400481	2.70E-09			
Endothelial	LY6E	2.079996535	2.71E-09	Unclassified	BrainSpLMD|4061;Eurexp|euxassay_010719|adrenal gland, liver, marginal layer, olfactory, thymus primordium, vertebral axis muscle system	OMIM|601384
Endothelial	TRAM2	2.95089185	2.75E-09	Membrane transport protein	BrainSpLMD|9697;Eurexp|euxassay_004974|axial skeleton, hyoid bone, naris, olfactory, petrous part, rib, sternum, turbinate bones	OMIM|608485
Endothelial	SOS1	1.431323567	2.86E-09	Guanine nucleotide exchange factor	BrainSpLMD|6654;Eurexp|euxassay_012192|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|182530;HPO|6654|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of the spleen, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Autosomal dominant inheritance, Blue irides, Coarse hair, Cryptorchidism, Cubitus valgus, Curly hair, Cystic hygroma, Delayed skeletal maturation, Dental malocclusion, Depressed nasal bridge, Downslanted palpebral fissures, Dysarthria, Enlarged thorax, Epicanthus, Feeding difficulties in infancy, Gingival fibromatosis, Gingival overgrowth, Hepatomegaly, High anterior hairline, High forehead, High palate, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadotrophic hypogonadism, Joint hyperflexibility, Low posterior hairline, Low-set, posteriorly rotated ears, Macrocephaly, Micrognathia, Midface retrusion, Muscle weakness, Muscular hypotonia, Pectus carinatum, Pectus excavatum, Pectus excavatum of inferior sternum, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Scoliosis, Short neck, Short stature, Sparse and thin eyebrow, Strabismus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Triangular face, Ventricular septal defect, Webbed neck, Wide intermamillary distance
Endothelial	SNHG8	1.020230073	3.01E-09			
Endothelial	BSG	1.766611564	3.08E-09	Cell surface receptor	BrainSpLMD|682	OMIM|109480
Endothelial	SLC25A5	0.809616449	3.37E-09	Integral membrane protein		OMIM|300150
Endothelial	RPL12	0.422703103	3.39E-09	Ribosomal subunit		OMIM|180475
Endothelial	TNFRSF10B	2.508361672	3.40E-09	Cell surface receptor	BrainSpLMD|8795	OMIM|603612;HPO|8795|Autosomal recessive inheritance, Squamous cell carcinoma
Endothelial	CARD8	1.598870784	3.43E-09	Adapter molecule	BrainSpLMD|22900	OMIM|609051
Endothelial	MATN2	0.812933437	3.53E-09	Extracellular matrix protein	BrainSpLMD|4147;Eurexp|euxassay_004287|choroid invagination, choroid plexus, meninges, mesenchyme, roof plate	OMIM|602108
Endothelial	TAGLN2	1.489002717	3.78E-09	Unclassified	BrainSpLMD|8407;Eurexp|euxassay_001884|ventricular layer;BrainSpMouseDev|21107	OMIM|604634
Endothelial	UNC5B	2.802558522	4.08E-09	Cell surface receptor	BrainSpLMD|219699;Eurexp|euxassay_002869|basal plate, calyces, cerebral cortex, cervical, cervico-thoracic, dorsal grey horn, dorsal root ganglion, facial VII, inferior, lip, mantle layer, marginal layer, mesenchyme, olfactory, olfactory cortex, penis, superior, thoracic, tongue, trigeminal V, vagus X, ventricular layer;BrainSpMouseDev|71614	OMIM|607870
Endothelial	SWAP70	1.362071485	4.25E-09	Guanine nucleotide exchange factor	BrainSpLMD|23075	OMIM|604762
Endothelial	LDHA	0.450242524	4.55E-09	Enzyme: Dehydrogenase	BrainSpLMD|3939	OMIM|150000;HPO|3939|Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise intolerance, Increased serum lactate, Increased serum pyruvate, Juvenile onset, Muscle cramps, Muscle stiffness, Myalgia, Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Rigidity
Endothelial	CFI	4.030320979	4.59E-09	Complement protein	BrainSpLMD|3426	OMIM|217030;HPO|3426|Arthritis, Autosomal recessive inheritance, Decreased serum complement C3, Decreased serum complement factor B, Decreased serum complement factor H, Decreased serum complement factor I, Glomerulonephritis, Juvenile onset, Pyelonephritis, Recurrent Haemophilus influenzae infections, Recurrent meningitis, Recurrent meningococcal disease, Recurrent otitis media, Recurrent sinusitis, Recurrent skin infections, Recurrent streptococcus pneumoniae infections, Recurrent urinary tract infections, Renal insufficiency, Vasculitis
Endothelial	PPP1R13B	1.356088421	4.65E-09	Regulatory/other subunit	BrainSpLMD|23368	OMIM|606455
Endothelial	MAGT1	1.011108574	4.66E-09	Unclassified	BrainSpLMD|84061	OMIM|300715;HPO|84061|Decreased T cell activation, Decreased number of CD4+ T cells, Immunodeficiency, Lymphoma, Recurrent viral infections, X-linked inheritance
Endothelial	MCC	1.382987232	4.75E-09	Unclassified;Cell cycle control protein	BrainSpLMD|4163;Eurexp|euxassay_016045|mantle layer, pineal primordium, stomach, submandibular gland primordium, ventricular layer	SFARI||Autism, No category;OMIM|159350
Endothelial	CYR61	0.47035913	4.98E-09	Extracellular matrix protein	BrainSpLMD|3491;BrainSpMouseDev|15780	OMIM|602369
Endothelial	RPL32P26	2.557064488	5.04E-09			
Endothelial	PGM5	2.959026104	5.58E-09	Enzyme: Phosphotransferase	BrainSpLMD|5239	OMIM|600981
Endothelial	ZIC3	3.047209282	5.73E-09	Transcription factor	BrainSpLMD|7547;Eurexp|euxassay_009728|ventricular layer;BrainSpMouseDev|22530	OMIM|300265;HPO|7547|Abdominal situs inversus, Abnormal vertebral morphology, Absent radius, Anal atresia, Asplenia, Atrial septal defect, Atrioventricular canal defect, Cardiomegaly, Common atrium, Dextrocardia, Enlarged kidney, Failure to thrive, Hand polydactyly, Hydrocephalus, Hydronephrosis, Hypertelorism, Mitral atresia, Patent ductus arteriosus, Phenotypic variability, Polysplenia, Posteriorly placed anus, Proximal placement of thumb, Pulmonic stenosis, Renal agenesis, Short humerus, Single ventricle, Tracheoesophageal fistula, Transposition of the great arteries, Urethral atresia, Ventricular septal defect, X-linked inheritance, X-linked recessive inheritance
Endothelial	USHBP1	2.584529179	5.75E-09	Unclassified	BrainSpLMD|83878;Eurexp|euxassay_005790|embryo	OMIM|611810
Endothelial	RAB21	0.728818041	5.75E-09	GTPase	BrainSpLMD|23011;Eurexp|euxassay_010091|dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, neural retina, thymus primordium, trigeminal V, vagus X	OMIM|612398
Endothelial	FAM198B	3.99627125	5.91E-09	Unclassified	BrainSpLMD|51313;Eurexp|euxassay_001747|adrenal gland, body-wall mesenchyme, head mesenchyme, intervertebral disc, rib, ventral grey horn, ventricle, ventricular layer, vertebra	
Endothelial	SPRY4	2.810338526	5.95E-09	Unclassified	BrainSpLMD|81848;Eurexp|euxassay_005250|brain, cervical, cervico-thoracic, cortex, diaphragm, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, incisor, lung, mesenchyme, metanephros, midgut, molar, naris, naso-lacrimal duct, rectum, spinal cord, stomach, thoracic, tongue, trigeminal V, turbinate bones, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|607984;HPO|81848|Abnormality of body height, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Anosmia, Anterior hypopituitarism, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Depressivity, Erectile abnormalities, Eunuchoid habitus, Female hypogonadism, Gynecomastia, Hypogonadotrophic hypogonadism, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Increased female libido, Male hypogonadism, Micropenis, Non-obstructive azoospermia, Osteopenia, Osteoporosis, Primary amenorrhea, Reduced bone mineral density, Secondary amenorrhea, Sparse axillary hair, Sparse body hair, Sparse pubic hair, Wide intermamillary distance
Endothelial	PLK2	0.921826316	6.09E-09	Serine/threonine kinase	BrainSpLMD|10769;Eurexp|euxassay_015918|bladder, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, lung, mandible, mantle layer, maxilla, mesenchyme, olfactory, pancreas, sternum, ventral grey horn, vibrissa	OMIM|607023
Endothelial	SMG1P1	1.883519823	6.13E-09			
Endothelial	ACTN1	1.407426614	6.34E-09	Cytoskeletal associated protein;Structural protein	BrainSpLMD|87	OMIM|102575;HPO|87|Anisocytosis, Autosomal dominant inheritance, Increased mean platelet volume, Thrombocytopenia
Endothelial	PRRG1	1.680079551	6.48E-09	Unclassified	BrainSpLMD|5638	OMIM|300935
Endothelial	NOP10	1.059386042	6.51E-09	Ribonucleoprotein	BrainSpLMD|55505	OMIM|606471;HPO|55505|Abnormal blistering of the skin, Abnormality of coagulation, Abnormality of female internal genitalia, Abnormality of neutrophils, Abnormality of the fingernails, Abnormality of the pharynx, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic anemia, Aplastic/hypoplastic toenail, Autosomal recessive inheritance, Bone marrow hypocellularity, Carious teeth, Cellular immunodeficiency, Esophageal stenosis, Esophageal stricture, Global developmental delay, Hepatic fibrosis, Hyperhidrosis, Hypermelanotic macule, Hyperpigmentation of the skin, Hypodontia, Hypopigmented skin patches, Increased lacrimation, Intellectual disability, Intrauterine growth retardation, Malabsorption, Microcephaly, Microdontia, Nail dysplasia, Nail dystrophy, Nasolacrimal duct obstruction, Oral leukoplakia, Osteoporosis, Periodontitis, Phenotypic variability, Pterygium of nails, Pulmonary fibrosis, Recurrent fractures, Recurrent respiratory infections, Rough bone trabeculation, Short stature, Skin ulcer, Small nail, Sparse eyelashes, Sparse hair, Sparse scalp hair, Taurodontia, Telangiectasia of the skin, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis
Endothelial	SIPA1	1.231335688	6.66E-09	GTPase activating protein	BrainSpLMD|6494	OMIM|602180
Endothelial	PLIN2	1.542352025	6.88E-09	Storage protein	BrainSpLMD|123	OMIM|103195
Endothelial	GNAI2	1.210739147	7.06E-09	GTPase;G protein	BrainSpLMD|2771;Eurexp|euxassay_018077|submandibular gland primordium, ventricular layer, vibrissa	OMIM|139360;HPO|2771|Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Paroxysmal ventricular tachycardia, Sudden cardiac death
Endothelial	RP11.467L13.7	2.590334159	7.09E-09			
Endothelial	CNST	0.833719619	7.25E-09	Unclassified	BrainSpLMD|163882	OMIM|613439
Endothelial	KLHL5	1.510574994	7.86E-09	Cytoskeletal associated protein	BrainSpLMD|51088;Eurexp|euxassay_012137|dorsal root ganglion, glossopharyngeal IX, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, mesenchyme, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|608064
Endothelial	OBFC1	1.84856427	7.89E-09			
Endothelial	EFCAB14	1.446044066	7.95E-09	Unclassified		
Endothelial	DYNLT3	0.895529545	8.00E-09	Unclassified	BrainSpLMD|6990;Eurexp|euxassay_011403|choroid plexus, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, mantle layer, naris, olfactory, pituitary, rectum, submandibular gland primordium, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, vibrissa	OMIM|300302
Endothelial	ITSN2	1.327473294	8.12E-09	Adapter molecule	BrainSpLMD|50618	OMIM|604464
Endothelial	CU639417.1	1.446746385	8.17E-09			
Endothelial	RRAS	2.467461004	8.58E-09	GTPase	BrainSpLMD|6237	OMIM|165090;HPO|6237|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of the spleen, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Coarse hair, Cryptorchidism, Cystic hygroma, Delayed skeletal maturation, Downslanted palpebral fissures, Dysarthria, Enlarged thorax, Feeding difficulties in infancy, Hepatomegaly, High forehead, High palate, Hypertelorism, Hypogonadotrophic hypogonadism, Joint hyperflexibility, Low posterior hairline, Low-set, posteriorly rotated ears, Micrognathia, Midface retrusion, Muscle weakness, Muscular hypotonia, Pectus carinatum, Pectus excavatum, Proptosis, Ptosis, Pulmonary artery stenosis, Scoliosis, Short stature, Strabismus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Triangular face, Webbed neck, Wide intermamillary distance
Endothelial	DGKH	1.189643066	8.67E-09	Lipid Kinase	BrainSpLMD|160851;Eurexp|euxassay_009546|dorsal root ganglion, glossopharyngeal IX, neural retina, trigeminal V, vagus X	OMIM|604071
Endothelial	TBC1D9B	1.907360193	9.08E-09	Unclassified	BrainSpLMD|23061	
Endothelial	PDK4	1.409409269	9.11E-09	Enzyme: Phosphotransferase	BrainSpLMD|5166	OMIM|602527
Endothelial	FKBP5	3.087515465	9.46E-09	Enzyme: Isomerase	BrainSpLMD|2289;Eurexp|euxassay_002327|thymus primordium	OMIM|602623
Endothelial	SVIP	1.724804339	9.66E-09			
Endothelial	PNP	2.064316484	9.71E-09	Enzyme: Phosphorylase	BrainSpLMD|4860;Eurexp|euxassay_003605|anterior, cortex, left, retina, right, thymus primordium, thyroid, vibrissa	OMIM|164050;HPO|4860|Abnormality of B cell physiology, Ataxia, Autoimmune hemolytic anemia, Autoimmune neutropenia, Autoimmune thrombocytopenia, Autosomal recessive inheritance, Behavioral abnormality, Cerebral vasculitis, Failure to thrive, Generalized hypotonia, Hypouricemia, Impaired T cell function, Intellectual disability, Lymph node hypoplasia, Lymphoma, Lymphopenia, Motor delay, Otitis media, Pneumonia, Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent urinary tract infections, Recurrent viral infections, Sinusitis, Spastic diplegia, Splenomegaly, Tetraparesis, Tremor
Endothelial	ANO6	2.020263902	9.96E-09	Integral membrane protein		OMIM|608663;HPO|196527|Abnormal bleeding, Autosomal recessive inheritance, Factor X activation deficiency
Endothelial	ASAH1	1.069196382	1.04E-08	Enzyme: Hydrolase	BrainSpLMD|427;Eurexp|euxassay_004481|lung	OMIM|613468;HPO|427|Areflexia, Arthralgia, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Cherry red spot of the macula, Decreased muscle mass, Degeneration of anterior horn cells, Dementia, Difficulty walking, EEG abnormality, EMG abnormality, Facial palsy, Failure to thrive, Frequent falls, Gait disturbance, Generalized myoclonic seizures, Gowers sign, Hepatomegaly, Hoarse cry, Intellectual disability, Irritability, Joint stiffness, Joint swelling, Juvenile onset, Kyphosis, Laryngomalacia, Lipogranulomatosis, Motor delay, Myoclonus, Neurological speech impairment, Nystagmus, Oral-pharyngeal dysphagia, Osteoporosis, Periarticular subcutaneous nodules, Progressive, Progressive distal muscular atrophy, Recurrent respiratory infections, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scoliosis, Short stature, Spinal muscular atrophy, Splenomegaly, Tongue fasciculations, Tremor, Variable expressivity
Endothelial	MCM3	0.549436466	1.09E-08	DNA binding protein	BrainSpLMD|4172;Eurexp|euxassay_001694|marginal layer, ventricular layer	OMIM|602693
Endothelial	RPL9	0.445048535	1.12E-08	Ribosomal subunit	BrainSpLMD|6133	OMIM|603686
Endothelial	ATL3	1.282517595	1.14E-08	Unclassified	BrainSpLMD|25923;Eurexp|euxassay_001705|orbito-sphenoid, ventricular layer	OMIM|609369;HPO|25923|Autosomal dominant inheritance, Hallux valgus, Hyperkeratosis, Hyporeflexia of lower limbs, Osteolytic defects of the phalanges of the hand, Osteomyelitis, Sensory axonal neuropathy
Endothelial	SAV1	1.408436425	1.18E-08	Transcription regulatory protein	BrainSpLMD|60485	OMIM|607203
Endothelial	POMP	0.93744169	1.18E-08	Unclassified	BrainSpLMD|51371;Eurexp|euxassay_002063|thymus primordium	OMIM|613386;HPO|51371|Amniotic constriction ring, Autosomal recessive inheritance, Congenital nonbullous ichthyosiform erythroderma, Honeycomb palmoplantar keratoderma, Hyperconvex nail, Ichthyosis, Linear arrays of macular hyperkeratoses in flexural areas, Nail dystrophy, Palmoplantar keratoderma, Parakeratosis
Endothelial	AL049871.1	1.907093222	1.23E-08			
Endothelial	SERINC5	0.699199758	1.25E-08	Unclassified	BrainSpLMD|256987;Eurexp|euxassay_011506|anterior, clavicle, floor plate, floorplate, incisor, mantle layer, marginal layer, molar, phalanx, thyroid, ventricular layer, vibrissa	OMIM|614551
Endothelial	BCAP29	0.816074606	1.26E-08	Integral membrane protein	BrainSpLMD|55973;Eurexp|euxassay_000840|dorsal root ganglion, lobe, submandibular gland primordium, thymus primordium, vagus X, ventricular layer, vibrissa	
Endothelial	MYO10	1.29321843	1.39E-08	Motor protein	BrainSpLMD|4651;Eurexp|euxassay_009373|mantle layer, marginal layer, thymus primordium, trigeminal V, ventricular layer	OMIM|601481
Endothelial	STK10	1.008353843	1.45E-08	Serine/threonine kinase	BrainSpLMD|6793;Eurexp|euxassay_011746|brain, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, left lung, metanephros, olfactory, right lung, skeletal muscle, spinal cord, trigeminal V, vagus X, ventricle, vertebral axis muscle system, vestibulocochlear VIII	OMIM|603919
Endothelial	MT1X	1.567096876	1.48E-08	Transport/cargo protein	BrainSpLMD|4501	OMIM|156359
Endothelial	MOV10	2.039417543	1.51E-08	Unclassified	BrainSpLMD|4343;Eurexp|euxassay_012341|anterior, midgut, olfactory, otic capsule, pituitary, stomach, turbinate bones	OMIM|610742
Endothelial	IGF2BP2	0.934790211	1.52E-08	RNA binding protein	BrainSpLMD|10644	OMIM|608289
Endothelial	LGALS1	1.159694365	1.53E-08	Ligand	BrainSpLMD|3956;Eurexp|euxassay_004032|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|16623	OMIM|150570
Endothelial	CCL2	2.690413679	1.55E-08	Chemokine	BrainSpLMD|6347	OMIM|158105
Endothelial	SH3BGRL3	0.596552106	1.57E-08	Unclassified	BrainSpLMD|83442;Eurexp|euxassay_003517|basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, thymus primordium, trigeminal V, vagus X, ventral grey horn	OMIM|615679
Endothelial	SMAD3	2.222184295	1.58E-08	Transcription regulatory protein	BrainSpLMD|4088;Eurexp|euxassay_002759|dorsal grey horn, oesophagus, pharyngo-tympanic tube, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|16897	OMIM|603109;COSMIC||colorectal carcinoma, oral squamous cell carcinoma;HPO|4088|Abnormality of the iris, Abnormality of the sternum, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Arachnodactyly, Arterial tortuosity, Ascending aortic dissection, Atrial fibrillation, Autosomal dominant inheritance, Bruising susceptibility, Camptodactyly, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Dental malocclusion, Descending aortic dissection, Dural ectasia, Exertional dyspnea, High palate, Hip osteoarthritis, Hypertelorism, Hypertension, Inguinal hernia, Intervertebral disc degeneration, Joint laxity, Knee osteoarthritis, Left ventricular failure, Left ventricular hypertrophy, Mitral regurgitation, Mitral valve prolapse, Osteochondritis Dissecans, Paroxysmal dyspnea, Pes planus, Protrusio acetabuli, Scoliosis, Spondylolisthesis, Striae distensae, Umbilical hernia, Uterine prolapse
Endothelial	SNX3	1.132201849	1.61E-08	Transport/cargo protein	BrainSpLMD|8724;Eurexp|euxassay_015289|nucleus pulposus, thymus primordium, ventricular layer	OMIM|605930
Endothelial	TAX1BP3	1.305642322	1.70E-08	Transcription regulatory protein	BrainSpLMD|30851	OMIM|616484
Endothelial	PRKAR1A	0.709997009	1.73E-08	Serine/threonine kinase	BrainSpLMD|5573;Eurexp|euxassay_001469|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V	OMIM|188830;COSMIC||papillary thyroid, myxoma, endocrine, papillary thyroid;HPO|5573|Abnormal form of the vertebral bodies, Abnormal prolactin level, Abnormality of circulating adrenocorticotropin level, Abnormality of female external genitalia, Abnormality of immune system physiology, Abnormality of the eye, Abnormality of the nail, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Adrenal hyperplasia, Agitation, Anteverted nares, Anxiety, Autism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bacterial endocarditis, Blue irides, Blue nevus, Brachycephaly, Brachydactyly, Broad nasal tip, Broad palm, Bruising susceptibility, Calvarial hyperostosis, Cardiac myxoma, Cerebral venous thrombosis, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Congenital craniofacial dysostosis, Congenital hypothyroidism, Congestive heart failure, Cryptorchidism, Decreased circulating ACTH level, Delayed eruption of teeth, Delayed speech and language development, Dental malocclusion, Depressed nasal bridge, Depressed nasal ridge, Depressivity, Diabetes mellitus, Dislocated radial head, Disproportionate short-limb short stature, Easy fatigability, Elevated calcitonin, Elevated circulating parathyroid hormone level, Enlarged polycystic ovaries, Epicanthus, Epiphyseal stippling, Exertional dyspnea, Fatigue, Freckling, Global developmental delay, Growth hormone deficiency, Growth hormone excess, Hearing impairment, Heart murmur, Heterogeneous, Hirsutism, Hydrocephalus, Hyperactivity, Hyperphosphatemia, Hypertelorism, Hypertension, Hypocalcemia, Hypodontia, Hypogonadism, Hypoplasia of the maxilla, Hypoplasia of the nasal bone, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic vertebral bodies, Hypospadias, Increased circulating cortisol level, Increased intracranial pressure, Increased susceptibility to fractures, Increased urinary cortisol level, Intellectual disability, Intrauterine growth retardation, Kyphosis, Long hallux, Malar flattening, Mandibular prognathia, Melanocytic nevus, Menstrual irregularities, Mental deterioration, Micromelia, Midface retrusion, Mild postnatal growth retardation, Mild short stature, Mood changes, Multiple lentigines, Muscle weakness, Myxoid subcutaneous tumors, Narrow vertebral interpedicular distance, Neonatal epiphyseal stippling, Nevus, Non-medullary thyroid carcinoma, Obesity, Onset, Open mouth, Optic atrophy, Osteopenia, Osteoporosis, Papillary thyroid carcinoma, Paradoxical increased cortisol secretion on dexamethasone suppression test, Peripheral Schwannoma, Peripheral neuropathy, Pheochromocytoma, Pigmented micronodular adrenocortical disease, Pituitary adenoma, Pituitary growth hormone cell adenoma, Primary hypercorticolism, Profuse pigmented skin lesions, Pseudohypoparathyroidism, Psychosis, Pulmonic valve myxoma, Red hair, Round face, Schwannoma, Scoliosis, Short metacarpal, Short metatarsal, Short nose, Short palm, Short phalanx of finger, Short stature, Short toe, Skeletal muscle atrophy, Slender build, Specific learning disability, Spinal canal stenosis, Strabismus, Striae distensae, Thin skin, Thyroid adenoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Truncal obesity, Vestibular Schwannoma, Wide nasal bridge
Endothelial	CNN2	0.639513245	1.73E-08	Cytoskeletal associated protein	BrainSpLMD|1265	OMIM|602373
Endothelial	ECI2	1.211100556	1.75E-08	Enzyme: Isomerase;Unclassified	BrainSpLMD|10455	OMIM|608024
Endothelial	CTBS	1.259034123	1.76E-08	Enzyme: Glycosidase	BrainSpLMD|1486;Eurexp|euxassay_009189|ventricular layer	OMIM|600873
Endothelial	CEP112	1.208588144	1.78E-08	Unclassified	BrainSpLMD|201134	
Endothelial	APRT	0.297410771	1.87E-08	Enzyme: Ribosyltransferase	BrainSpLMD|353;Eurexp|euxassay_001689|Meckel's cartilage, axial muscle, olfactory, orbito-sphenoid, vault of skull	OMIM|102600;HPO|353|Autosomal recessive inheritance, Hematuria, Nephrolithiasis, Renal insufficiency
Endothelial	HTRA1	1.241945201	1.97E-08	Serine protease	BrainSpLMD|5654;Eurexp|euxassay_005061|anterior abdominal wall, aorta, axial muscle, axial skeleton, choroid plexus, diaphragm, humerus, incisor, lung, mesenchyme, metatarsus, molar, nucleus pulposus, pancreas, pelvic girdle, pharyngo-tympanic tube, rest of mesenchyme, rest of mesencyme, roof plate, scapula, skeletal muscle, sternum, tongue, trachea, ventricular layer, vibrissa	OMIM|602194;HPO|5654|Abnormality of extrapyramidal motor function, Alopecia, Arteriosclerosis of small cerebral arteries, Ataxia, Autosomal recessive inheritance, Babinski sign, Dementia, Diffuse demyelination of the cerebral white matter, Diffuse white matter abnormalities, Dysarthria, Gait disturbance, Hyperreflexia, Leukoencephalopathy, Low back pain, Progressive encephalopathy, Pseudobulbar signs, Rigidity, Spasticity, Urinary incontinence
Endothelial	SLC31A1	1.557793019	2.01E-08	Transport/cargo protein	BrainSpLMD|1317;Eurexp|euxassay_004933|cervical, cervico-thoracic, choroid invagination, choroid plexus, incisor, medulla, roof plate, thoracic	OMIM|603085
Endothelial	LYN	2.083899264	2.03E-08	Tyrosine kinase	BrainSpLMD|4067	OMIM|165120
Endothelial	FAM189A2	2.9696107	2.04E-08	Integral membrane protein	BrainSpLMD|9413;BrainSpMouseDev|120110	OMIM|607710
Endothelial	MAFF	1.440872079	2.09E-08	Transcription factor	BrainSpLMD|23764	OMIM|604877
Endothelial	TBXA2R	1.480227878	2.10E-08	G protein coupled receptor	BrainSpLMD|6915	OMIM|188070
Endothelial	ASMTL	0.754928671	2.12E-08	Enzyme: Acyltransferase		OMIM|400011
Endothelial	PKIG	1.331392967	2.13E-08	Enzyme regulator;Regulatory/other subunit	BrainSpLMD|11142;Eurexp|euxassay_010432|tongue, vertebral axis muscle system	OMIM|604932
Endothelial	TLR4	2.310120169	2.26E-08	Cell surface receptor	BrainSpLMD|7099	OMIM|603030;HPO|7099|Abdominal pain, Abnormal blistering of the skin, Acne, Arthralgia, Arthritis, Confusion, Fatigue, Fever, Gait disturbance, Gastrointestinal hemorrhage, Hemiparesis, Immunologic hypersensitivity, Meningitis, Migraine, Myalgia, Nausea and vomiting, Oral ulcer, Orchitis, Papule, Photophobia, Recurrent aphthous stomatitis, Subcutaneous nodule, Vasculitis, Venous thrombosis
Endothelial	GUCD1	0.860709141	2.26E-08	Unclassified	BrainSpLMD|83606;Eurexp|euxassay_010826|lobe, metanephros	
Endothelial	PLA2G4C	2.299692197	2.34E-08	Enzyme: Phospholipase	BrainSpLMD|8605	OMIM|603602
Endothelial	FCHO2	1.488042288	2.38E-08	Unclassified	BrainSpLMD|115548	OMIM|613438
Endothelial	MIR3916	1.434817662	2.40E-08			
Endothelial	ACADVL	0.434323711	2.48E-08	Enzyme: Dehydrogenase	BrainSpLMD|37;Eurexp|euxassay_018899|chondrocranium, lobe	OMIM|609575;HPO|37|Autosomal recessive inheritance, Decreased plasma carnitine, Dicarboxylic aciduria, Elevated serum creatine phosphokinase, Exercise-induced myalgia, Exercise-induced myoglobinuria, Exercise-induced rhabdomyolysis, Generalized hypotonia, Hepatic steatosis, Hepatocellular necrosis, Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy, Muscle stiffness, Muscle weakness, Nonketotic hypoglycemia, Sudden cardiac death, Tachypnea, Vomiting
Endothelial	PHLDA1	0.932740154	2.53E-08	Transcription factor	BrainSpLMD|22822;Eurexp|euxassay_008411|anterior, axial skeleton, bladder, cartilaginous ring, cornea, diaphragm, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, hepatic duct, hindgut, incisor, inner ear, left lung, liver, mantle layer, medulla, meninges, metanephros, midgut, molar, naso-lacrimal duct, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, right lung, skeletal muscle, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, tongue, trigeminal V, ureter, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|605335
Endothelial	TRAM1	0.644877573	2.56E-08	Membrane transport protein	BrainSpLMD|23471	OMIM|605190
Endothelial	IFNAR2	1.537214658	2.56E-08	Cell surface receptor	BrainSpLMD|3455;Eurexp|euxassay_012136|alimentary system, brain, cardiovascular system, intraembryonic coelom, limb, liver and biliary system, mesenchyme, renal/urinary system, reproductive system, respiratory system, rest of skin, spinal cord, tail, vertebral axis muscle system	OMIM|602376;HPO|3455|Autosomal recessive inheritance
Endothelial	NTAN1	1.03538865	2.57E-08	Enzyme: Hydrolase	BrainSpLMD|123803;Eurexp|euxassay_018044|head mesenchyme	OMIM|615367
Endothelial	IL13RA1	2.878361933	2.59E-08	Cytokine receptor	BrainSpLMD|3597;Eurexp|euxassay_007297|aorta, left lung, mesentery, metanephros, midgut, pituitary, right lung;BrainSpMouseDev|15937	OMIM|300119
Endothelial	PART1	2.077235991	2.64E-08		BrainSpLMD|25859	OMIM|604991
Endothelial	TMBIM6	0.503495229	2.70E-08	Integral membrane protein	BrainSpLMD|7009	OMIM|600748
Endothelial	NQO1	2.237930623	2.71E-08	Enzyme: Oxidoreductase	BrainSpLMD|1728	OMIM|125860
Endothelial	ANKRD37	1.268596284	2.73E-08	Cell surface receptor	BrainSpLMD|353322	
Endothelial	PPP1R16B	3.319747986	2.85E-08	Enzyme regulator	BrainSpLMD|26051;Eurexp|euxassay_006167|diaphragm, lung, mantle layer, marginal layer, mesenchyme, metanephros, midgut, stomach, thymus primordium, ventricle, vertebral axis muscle system	OMIM|613275
Endothelial	VAMP8	1.82983822	2.85E-08	Membrane transport protein	BrainSpLMD|8673	OMIM|603177
Endothelial	PLEKHA1	0.70092106	2.87E-08	Adapter molecule	BrainSpLMD|59338;Eurexp|euxassay_013789|brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, left lung, neural retina, olfactory, primitive seminiferous tubules, right lung, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607772
Endothelial	APOL4	1.214568393	2.89E-08	Transport/cargo protein	BrainSpLMD|80832	OMIM|607254
Endothelial	NR2F2.AS1	1.377848513	3.00E-08			
Endothelial	PTBP1	0.955898562	3.08E-08	Ribonucleoprotein	BrainSpLMD|5725	OMIM|600693
Endothelial	P4HA2	1.595217266	3.12E-08	Enzyme: Hydroxylase	BrainSpLMD|8974;Eurexp|euxassay_003346|Meckel's cartilage, axial skeleton, clavicle, molar, orbito-sphenoid, pectoral girdle and thoracic body wall, rib, turbinate	SFARI||Autism, 3 - Suggestive evidence;OMIM|600608;HPO|8974|Autosomal dominant inheritance, Severe Myopia
Endothelial	UBB	0.955856588	3.20E-08	Ubiquitin proteasome system protein	BrainSpLMD|7314	OMIM|191339;HPO|7314|Anterior open-bite malocclusion, Autosomal dominant inheritance, Cleft palate, Gingival overgrowth, Intellectual disability, profound, Micrognathia, Overbite, Seizures
Endothelial	RPL36AL	0.592479823	3.26E-08	Ribosomal subunit	BrainSpLMD|6166	OMIM|180469
Endothelial	CEBPB	0.485428413	3.35E-08	Transcription factor	BrainSpLMD|1051;Eurexp|euxassay_019532|medulla, submandibular gland primordium	OMIM|189965
Endothelial	TRIM5	2.42876539	3.40E-08	Ubiquitin proteasome system protein	BrainSpLMD|85363	OMIM|608487
Endothelial	TLN1	0.523433563	3.43E-08	Cytoskeletal associated protein	BrainSpLMD|7094;Eurexp|euxassay_011794|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	OMIM|186745
Endothelial	ITGA10	2.762817209	3.47E-08	Cell surface receptor	BrainSpLMD|8515;Eurexp|euxassay_011003|Meckel's cartilage, basioccipital bone, basisphenoid bone, cervical region, femur, fibula, hip, humerus, lumbar region, mandible, maxilla, nasal septum, orbito-sphenoid, otic capsule, petrous part, pituitary, rib, sacral region, scapula, tarsus, thoracic region, tibia, turbinate	OMIM|604042
Endothelial	ARHGEF10	1.392922759	3.63E-08	Guanine nucleotide exchange factor	BrainSpLMD|9639	OMIM|608136;HPO|9639|Adult onset, Autosomal dominant inheritance, Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination
Endothelial	OLFML3	1.932893192	3.73E-08	Extracellular matrix protein	BrainSpLMD|56944;Eurexp|euxassay_000583|Meckel's cartilage, calyces, chondrocranium, foregut-midgut junction, hindgut, incisor, midgut, molar, pelvis, skeleton, stomach	OMIM|610088
Endothelial	SPRY1	2.604067234	3.74E-08	Unclassified	BrainSpLMD|10252	OMIM|602465
Endothelial	NABP1	0.993175675	3.84E-08	DNA binding protein;RNA binding protein	BrainSpLMD|64859	OMIM|612103
Endothelial	TMEM179B	2.19653298	3.87E-08	Integral membrane protein	BrainSpLMD|374395	
Endothelial	C4orf19	2.018220503	3.88E-08	Unclassified	BrainSpLMD|55286;Eurexp|euxassay_006073|bladder, calyces, hindgut, left lung, marginal layer, midgut, pancreas, rectum, right lung, stomach, submandibular gland primordium, trachea, urethra, ventricular layer	
Endothelial	IFI44L	2.885692185	4.25E-08	Unclassified	BrainSpLMD|10964;Eurexp|euxassay_000516|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, medulla oblongata, mesenchyme, metencephalon, midbrain, olfactory, retina, stroma, sublingual gland primordium, submandibular gland primordium, thoracic, trigeminal V, urethra, vagus X, vestibulocochlear VIII	OMIM|613975
Endothelial	ADD3	1.541201204	4.30E-08	Cytoskeletal associated protein	BrainSpLMD|120;Eurexp|euxassay_002919|chondrocranium, epithelium, glandular mucous membrane, lumen, mantle layer, pancreas, ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|601568;HPO|120|Abnormal pyramidal signs, Autosomal recessive inheritance, Cognitive impairment, Dysphagia, Exotropia, Global developmental delay, Infantile onset, Microcephaly, Nystagmus, Poor speech, Spastic diplegia, Spastic tetraplegia, Supranuclear gaze palsy, Variable expressivity
Endothelial	SMOX	1.800266306	4.32E-08	Enzyme: Oxidase	BrainSpLMD|54498	OMIM|615854
Endothelial	SCML1	2.155747256	4.35E-08	Transcription regulatory protein	BrainSpLMD|6322	OMIM|300227
Endothelial	TUBB6	2.355960122	4.48E-08	Cytoskeletal protein	BrainSpLMD|84617;Eurexp|euxassay_015347|cervical, cervico-thoracic, cochlear component, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, inferior, medulla oblongata, metencephalon, midbrain, neural retina, nucleus pulposus, olfactory, spinal cord, stroma, superior, telencephalon, thoracic, tongue, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII	OMIM|615103
Endothelial	TRIP10	1.131723804	4.51E-08	Adapter molecule	BrainSpLMD|9322;Eurexp|euxassay_000162|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, cranium, exoccipital bone, foramen ovale, foramen rotundum, frontal bone primordium, inter-parietal bone primordium, orbito-sphenoid, otic capsule, sphenoid, submandibular gland primordium, temporal bone, trigeminal V, turbinate, vault of skull, vestibular component	OMIM|604504
Endothelial	CD81	1.009816515	4.59E-08	Enzyme: Oxidase	BrainSpLMD|975;Eurexp|euxassay_012630|choroid plexus, mantle layer, stomach, ventral grey horn, ventricular layer	OMIM|186845;HPO|975|Anal atresia, Autoimmune thrombocytopenia, Autosomal recessive inheritance, Brachycephaly, Bronchiectasis, Chronic otitis media, Decreased antibody level in blood, Elevated hepatic transaminases, Hemolytic anemia, Immunodeficiency, Lymphadenopathy, Lymphopenia, Pneumonia, Purpura, Recurrent bacterial infections, Recurrent bronchitis, Recurrent respiratory infections, Splenomegaly
Endothelial	CADPS2	3.713381233	4.60E-08	Calcium binding protein	BrainSpLMD|93664;Eurexp|euxassay_011972|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, mantle layer, marginal layer, naris, nasal septum, olfactory, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, radius, rib, scapula, tibia, turbinate bones, ulna, vault of skull;BrainSpMouseDev|107340	SFARI||Autism, 4 - Minimal evidence;OMIM|609978
Endothelial	GALNT7	0.698961081	4.61E-08	Enzyme: Transferase	BrainSpLMD|51809;Eurexp|euxassay_005715|adrenal gland, choroid invagination, choroid plexus, metanephros, midgut, rectum, roof plate, stomach, submandibular gland primordium	OMIM|605005
Endothelial	FUT11	0.505133108	4.66E-08	Enzyme: Fucosyltransferase		OMIM|616932
Endothelial	SMAGP	2.626067693	4.87E-08	Integral membrane protein	BrainSpLMD|57228;Eurexp|euxassay_004382|Meckel's cartilage, cervical region, humerus, lumbar region, mesenchyme, rib, sacral region, scapula, thoracic region	
Endothelial	CNBP	0.466925885	4.88E-08	RNA binding protein	BrainSpLMD|7555	OMIM|116955;COSMIC||aneurysmal bone cyst;HPO|7555|Autosomal dominant inheritance, Cataract, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, Elevated serum creatine phosphokinase, Frontal balding, Hypogonadism, IgG deficiency, IgM deficiency, Insulin insensitivity, Iridescent posterior subcapsular cataract, Myalgia, Myotonia, Neck flexor weakness, Oligospermia, Palpitations, Proximal muscle weakness, Tachycardia, Type 2 muscle fiber atrophy
Endothelial	F11R	1.889242172	5.01E-08	Adhesion molecule	BrainSpLMD|50848;Eurexp|euxassay_004957|adenohypophysis, bladder, conjunctival sac, epithelium, incisor, inner ear, lung, metanephros, midgut, molar, naris, nasal septum, naso-lacrimal duct, olfactory, pancreas, pharyngo-tympanic tube, rectum, respiratory, stomach, submandibular gland primordium, trachea, urethra, vibrissa	OMIM|605721
Endothelial	BACE2	2.413273365	5.13E-08	Protease	BrainSpLMD|25825	OMIM|605668
Endothelial	MIR3680.2	1.242865929	5.37E-08			
Endothelial	MT.TD	1.000820951	5.70E-08			
Endothelial	BMF	1.474360543	5.79E-08	Unclassified	BrainSpLMD|90427;Eurexp|euxassay_008005|pituitary	OMIM|606266
Endothelial	STARD3NL	0.783409249	5.90E-08	Integral membrane protein	BrainSpLMD|83930;Eurexp|euxassay_012114|Meckel's cartilage, arytenoid, axial skeleton, basioccipital bone, basisphenoid bone, cricoid, femur, fibula, humerus, hyoid bone, metacarpus, metatarsus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, sternum, tarsus, thyroid, tibia, turbinate bones, ulna, vault of skull	OMIM|611759
Endothelial	SHROOM1	1.559535484	5.90E-08	Unclassified	BrainSpLMD|134549	OMIM|611179
Endothelial	SMG1P2	1.936156969	6.09E-08			
Endothelial	WWC3	1.424387115	6.44E-08	Unclassified	BrainSpLMD|55841	
Endothelial	COL15A1	3.317099627	6.45E-08	Extracellular matrix protein	BrainSpLMD|1306;Eurexp|euxassay_002783|axial muscle, bladder, choroid plexus, ductus deferens, hindgut, marginal layer, mesenchyme, metanephros, metatarsus, midgut, nasal septum, pelvic girdle, pericardium, skeletal muscle, stomach, submandibular gland primordium, turbinate bones;BrainSpMouseDev|12602	OMIM|120325
Endothelial	SPTLC2	2.045903292	6.56E-08	Enzyme: Acyltransferase	BrainSpLMD|9517	OMIM|605713;HPO|9517|Abnormality of the foot, Anhidrosis, Autoamputation, Autosomal dominant inheritance, Distal muscle weakness, Distal sensory impairment, Distal sensory loss of all modalities, Dysesthesia, Osteomyelitis, Sensorimotor neuropathy, Skin ulcer
Endothelial	TMEM156	1.531362446	6.71E-08	Unclassified	BrainSpLMD|80008	
Endothelial	FOSB	0.954680483	6.90E-08	Transcription factor	BrainSpLMD|2354	OMIM|164772
Endothelial	RP11.568K15.1	1.906095441	7.00E-08			
Endothelial	SNAP23	1.009279481	7.17E-08	Transport/cargo protein	BrainSpLMD|8773;Eurexp|euxassay_005991|embryo	OMIM|602534
Endothelial	CTDSP1	1.129706868	7.18E-08	Enzyme: Phosphatase	BrainSpLMD|58190	OMIM|605323
Endothelial	DNAJC15	0.565615988	7.19E-08	Unclassified	BrainSpLMD|29103;Eurexp|euxassay_002653|adrenal gland	OMIM|615339
Endothelial	APBB2	0.995939803	7.24E-08	Adapter molecule	BrainSpLMD|323;Eurexp|euxassay_007659|corpus striatum, mantle layer, nasal septum, neural retina, turbinate bones, ventral grey horn	OMIM|602710
Endothelial	NOTCH1	1.403200718	7.33E-08	Cell surface receptor	BrainSpLMD|4851;Eurexp|euxassay_018738|cochlea, cornea, cortex, epidermis, epithelium, incisor, left lung, molar, olfactory, rest of skin, retina, right lung, submandibular gland primordium, thymus primordium, utricle, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|17895	OMIM|190198;COSMIC||T-ALL, breast, bladder, skin SCC, lung SCC, head and neck SCC;HPO|4851|Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis, Aplasia cutis congenita, Autosomal dominant inheritance, Bicuspid aortic valve, Brachydactyly, Calvarial skull defect, Cataract, Cavernous hemangioma, Coarctation of aorta, Cutis marmorata, Cutis marmorata telangiectatica congenita, Dilatation of the aortic arch, Dystrophic toenail, Failure to thrive, Finger syndactyly, Heart murmur, Hydrocephalus, Hypertension, Microphthalmia, Phenotypic variability, Pulmonary arterial hypertension, Pulmonary artery atresia, Pulmonic stenosis, Right ventricular hypertrophy, Short distal phalanx of finger, Sparse hair, Split hand, Strabismus, Syndactyly, Talipes, Tetralogy of Fallot, Thoracic aorta calcification
Endothelial	CRTAP	0.966469011	7.84E-08	Unclassified	BrainSpLMD|10491	OMIM|605497;HPO|10491|Absent pulmonary artery, Autosomal recessive inheritance, Blue sclerae, Bowing of the legs, Breech presentation, Coxa vara, Crumpled long bones, Death in infancy, Decreased calvarial ossification, Delayed cranial suture closure, Externally rotated/abducted legs, Hydronephrosis, Hypoplastic pulmonary veins, Long philtrum, Micromelia, Multiple prenatal fractures, Multiple rib fractures, Narrow chest, Osteopenia, Pectus excavatum, Proptosis, Protrusio acetabuli, Recurrent fractures, Rhizomelia, Round face, Scoliosis, Vertebral compression fractures, Wide anterior fontanel, Wide cranial sutures, Wormian bones
Endothelial	GNS	1.409518795	7.97E-08	Enzyme: Sulphatase	BrainSpLMD|2799;Eurexp|euxassay_017749|floor plate, floorplate	OMIM|607664;HPO|2799|Absent speech, Anteverted nares, Asymmetric septal hypertrophy, Autosomal recessive inheritance, Cellular metachromasia, Coarse facial features, Coarse hair, Depressed nasal bridge, Diarrhea, Drooling, Dysarthria, Dysostosis multiplex, Dysphagia, Flexion contracture, Frontal bossing, Growth abnormality, Hearing impairment, Heparan sulfate excretion in urine, Hepatomegaly, Hirsutism, Hyperactivity, Intellectual disability, Joint stiffness, Low-set ears, Ovoid thoracolumbar vertebrae, Progressive, Prominent forehead, Recurrent upper respiratory tract infections, Seizures, Short neck, Sleep disturbance, Splenomegaly, Synophrys, Thick eyebrow, Thick lower lip vermilion, Thickened ribs, Wide mouth
Endothelial	GAB3	2.798786435	8.11E-08	Unclassified	BrainSpLMD|139716	OMIM|300482
Endothelial	MT.TE	0.885025123	8.30E-08			
Endothelial	POLR2L	0.971510901	8.39E-08	RNA polymerase	BrainSpLMD|5441;Eurexp|euxassay_019574|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, liver, lung, midgut, nucleus pulposus, oesophagus, pancreas, stomach, submandibular gland primordium, testis, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|601189
Endothelial	YWHAH	0.615204726	8.81E-08	Adapter molecule	BrainSpLMD|7533;Eurexp|euxassay_007180|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|113508
Endothelial	ADAM10	1.055437451	9.00E-08	Metallo protease	BrainSpLMD|102;Eurexp|euxassay_007598|anterior, dorsal root ganglion, epithelium, external, facial VII, glossopharyngeal IX, inner ear, lens, liver, naso-lacrimal duct, neural retina, olfactory, pectoral girdle and thoracic body wall, trigeminal V, vagus X;BrainSpMouseDev|11275	OMIM|602192;HPO|102|Autosomal dominant inheritance
Endothelial	ENOSF1	0.841712618	9.12E-08	Enzyme: Ligase	BrainSpLMD|55556	OMIM|607427
Endothelial	STX3	1.093043408	9.32E-08	Transport/cargo protein	BrainSpLMD|6809;Eurexp|euxassay_012646|marginal layer, ventricular layer;BrainSpMouseDev|20670	OMIM|600876
Endothelial	UBXN8	2.142595678	9.55E-08	Unclassified	BrainSpLMD|7993	OMIM|602155
Endothelial	KIAA1671	1.846011453	9.67E-08	Unclassified	Eurexp|euxassay_011143|bladder, epidermal component, epidermis, epithelium, incisor, midgut, molar, olfactory, oral epithelium, pharyngo-tympanic tube, rectum, stomach, submandibular gland primordium, thymus primordium, urethra, vomeronasal organ	
Endothelial	TMEM2	1.567086217	9.87E-08	Integral membrane protein	BrainSpLMD|23670	OMIM|605835
Endothelial	RORA	1.375290021	9.89E-08	Nuclear receptor	BrainSpLMD|6095;Eurexp|euxassay_018175|anterior, dorsal grey horn, external, mantle layer, medulla, thymus primordium, vibrissa;BrainSpMouseDev|19646	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600825
Endothelial	ATF3	1.643102148	9.97E-08	Transcription regulatory protein	BrainSpLMD|467;Eurexp|euxassay_006681|femur, humerus, ventricle;BrainSpMouseDev|11697	OMIM|603148
Endothelial	SLC25A45	1.72087686	1.02E-07	Integral membrane protein	BrainSpLMD|283130;Eurexp|euxassay_003432|thymus primordium	OMIM|610825
Endothelial	MCF2L	1.429872745	1.07E-07	Guanine nucleotide exchange factor	BrainSpLMD|23263	OMIM|609499
Endothelial	NPIPB11	1.342999076	1.13E-07			
Endothelial	JMJD1C	1.211892239	1.14E-07	Transcription regulatory protein	BrainSpLMD|221037;Eurexp|euxassay_008985|mantle layer, ventricular layer;BrainSpMouseDev|72988	SFARI||Autism, 4 - Minimal evidence;OMIM|604503;HPO|221037|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
Endothelial	TMCC3	2.375592267	1.14E-07	Integral membrane protein	BrainSpLMD|57458;Eurexp|euxassay_006528|olfactory, paraxial mesenchyme, primitive seminiferous tubules, vibrissa	OMIM|617459
Endothelial	NPIPB3	1.615491696	1.17E-07	Unclassified	BrainSpLMD|23117	
Endothelial	MGLL	1.372975817	1.20E-07	Enzyme: Lipase	BrainSpLMD|11343;Eurexp|euxassay_002003|Meckel's cartilage, dorsal grey horn, dorsal root ganglion, foregut-midgut junction, hindgut, lobe, mantle layer, marginal layer, midgut, oesophagus, pancreas, stomach, ventricular layer, vibrissa	OMIM|609699
Endothelial	LATS2	1.269846561	1.25E-07	Serine/threonine kinase	BrainSpLMD|26524	OMIM|604861
Endothelial	ENDOD1	2.60653391	1.25E-07	Unclassified	BrainSpLMD|23052	
Endothelial	MAST4	1.625690831	1.28E-07	Unclassified	BrainSpLMD|375449;Eurexp|euxassay_011099|mantle layer, marginal layer, thymus primordium, ventral grey horn	
Endothelial	TMEM41A	0.785804619	1.32E-07	Integral membrane protein	BrainSpLMD|90407	
Endothelial	CX3CL1	2.233923788	1.32E-07	Chemokine	BrainSpLMD|6376;Eurexp|euxassay_003381|epidermis, mantle layer, marginal layer, naris, oesophagus, olfactory, rectum, respiratory, testis, thymus primordium, thyroid, trachea, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|20075	OMIM|601880
Endothelial	ST3GAL1	1.541460113	1.34E-07	Enzyme: Sialyltransferase	BrainSpLMD|6482;Eurexp|euxassay_010981|mandible, mantle layer, sternum, vibrissa	OMIM|607187
Endothelial	RASSF1	2.17919017	1.34E-07	Cytoskeletal associated protein	BrainSpLMD|11186	OMIM|605082;HPO|11186|Alveolar cell carcinoma, Autosomal recessive inheritance
Endothelial	IFNAR1	1.402608926	1.38E-07	Cytokine receptor	BrainSpLMD|3454;Eurexp|euxassay_010150|left, right	OMIM|107450
Endothelial	ANXA4	1.821503092	1.38E-07	Calcium binding protein	BrainSpLMD|307;Eurexp|euxassay_000677|foregut-midgut junction, hindgut, lung, midgut, stomach, testis;BrainSpMouseDev|11533	OMIM|106491
Endothelial	SLC38A2	1.376856382	1.39E-07	Transport/cargo protein	BrainSpLMD|54407;Eurexp|euxassay_019685|adrenal gland, clavicle, incisor, lung, meninges, metanephros, molar, neural retina, phalanx, submandibular gland primordium, turbinate bones, vibrissa	OMIM|605180
Endothelial	STARD4	1.660918293	1.43E-07	Unclassified	BrainSpLMD|134429;Eurexp|euxassay_008767|hindgut, midgut, rectum	OMIM|607049
Endothelial	LRP10	2.670697466	1.45E-07	Cell surface receptor	BrainSpLMD|26020	OMIM|609921
Endothelial	CNIH1	0.687073026	1.50E-07	Integral membrane protein	BrainSpLMD|10175	OMIM|611287
Endothelial	PLOD1	0.334978772	1.50E-07	Enzyme: Hydroxylase	BrainSpLMD|5351;Eurexp|euxassay_002758|axial skeleton, brain, clavicle, femur, humerus, intervertebral disc, lumbar region, mesenchyme, nasal septum, otic capsule, rib, sacral region, skeleton, thoracic region, trachea, turbinate bones, ventricular layer, vertebral cartilage condensation	OMIM|153454;HPO|5351|Abnormality of metabolism/homeostasis, Abnormality of the hip bone, Aortic dissection, Arachnodactyly, Arterial dissection, Arterial rupture, Atypical scarring of skin, Autosomal recessive inheritance, Bladder diverticulum, Blindness, Blue sclerae, Bruising susceptibility, Congestive heart failure, Decreased fetal movement, Decreased pulmonary function, Dental crowding, Depressed nasal bridge, Disproportionate tall stature, Epicanthus, Gait disturbance, Gastrointestinal hemorrhage, Generalized hypotonia, Generalized joint laxity, Glaucoma, Hyperextensible skin, Inguinal hernia, Joint dislocation, Joint hyperflexibility, Joint laxity, Keratoconus, Kyphosis, Microcornea, Mitral valve prolapse, Molluscoid pseudotumors, Motor delay, Myopia, Neonatal hypotonia, Osteoporosis, Palmoplantar cutis laxa, Pes planus, Premature rupture of membranes, Progressive congenital scoliosis, Recurrent pneumonia, Respiratory insufficiency, Retinal detachment, Retinopathy, Scoliosis, Soft skin, Spontaneous rupture of the globe, Subcutaneous hemorrhage, Talipes equinovarus, Tall stature, Thin skin, Visual impairment
Endothelial	SGMS1	2.325237334	1.54E-07	Enzyme: Synthase	BrainSpLMD|259230;Eurexp|euxassay_004662|choroid plexus, lateral recess	OMIM|611573
Endothelial	PDIA3	0.805039891	1.56E-07	Enzyme: Isomerase		OMIM|602046
Endothelial	TMEM50A	0.770207162	1.61E-07	Integral membrane protein		OMIM|605348
Endothelial	GATAD1	0.78368807	1.61E-07	Transcription regulatory protein	BrainSpLMD|57798;BrainSpMouseDev|43053	OMIM|614518;HPO|57798|Autosomal recessive inheritance, Congestive heart failure, Dilated cardiomyopathy
Endothelial	DNAJC3	0.814070581	1.61E-07	Translation regulatory protein	BrainSpLMD|5611	OMIM|601184;HPO|5611|Atrophy/Degeneration affecting the brainstem, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Sensorineural hearing impairment, Short stature, Type I diabetes mellitus
Endothelial	PTTG1IP	1.276178958	1.65E-07	Transport/cargo protein	BrainSpLMD|754	OMIM|603784
Endothelial	OSMR	2.688902484	1.66E-07	Cytokine receptor	BrainSpLMD|9180	OMIM|601743;HPO|9180|Abnormality of the cranial nerves, Adult onset, Amyloidosis, Autosomal dominant inheritance, Cutis laxa, Lattice corneal dystrophy, Pruritus
Endothelial	LEPROT	0.856778426	1.70E-07	Integral membrane protein		OMIM|613461
Endothelial	MCL1	1.198180577	1.75E-07	Chaperone	BrainSpLMD|4170	OMIM|159552
Endothelial	PTPRE	0.682270398	1.75E-07	Receptor tyrosine phosphatase	BrainSpLMD|5791	OMIM|600926
Endothelial	HERPUD1	0.534704548	1.76E-07	Integral membrane protein	BrainSpLMD|9709;Eurexp|euxassay_005097|clavicle, mandible, maxilla, olfactory, orbito-sphenoid	OMIM|608070;COSMIC||prostate
Endothelial	GPD1L	1.3614925	1.79E-07	Unclassified	BrainSpLMD|23171;Eurexp|euxassay_012850|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	OMIM|611778;HPO|23171|Autosomal dominant inheritance, First degree atrioventricular block, Right bundle branch block, Syncope, Ventricular fibrillation
Endothelial	PMEPA1	0.591219264	1.80E-07	Integral membrane protein	BrainSpLMD|56937	OMIM|606564
Endothelial	TTYH2	1.459602719	1.82E-07	Unclassified	BrainSpLMD|94015;Eurexp|euxassay_010129|brain, meninges, mesenchyme, spinal cord, ventricular layer	OMIM|608855
Endothelial	MYO1C	1.639349822	1.90E-07	Motor protein	BrainSpLMD|4641	OMIM|606538
Endothelial	RASSF8	1.89809374	1.99E-07	Unclassified	BrainSpLMD|11228;Eurexp|euxassay_008525|mantle layer	OMIM|608231
Endothelial	RPS28	0.980240809	2.01E-07	Ribosomal subunit		OMIM|603685;HPO|6234|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Broad neck, Cleft palate, Congenital diaphragmatic hernia, Delayed puberty, Downslanted palpebral fissures, Epicanthus, Fatigue, Feeding difficulties, Global developmental delay, Infantile onset, Macrocytic anemia, Micrognathia, Microtia, Midface retrusion, Migraine, Mixed hearing impairment, Pallor, Posteriorly rotated ears, Respiratory distress, Short stature, Sparse and thin eyebrow
Endothelial	STC1	1.766501695	2.02E-07	Calcium binding protein	BrainSpLMD|6781;Eurexp|euxassay_003067|axial skeleton, calyces, cervical, cervico-thoracic, cortex, dorsal grey horn, genital tubercle, head mesenchyme, limb, mesenchyme, pelvis, tail, testis, thoracic, tongue, vertebral axis muscle system	OMIM|601185
Endothelial	VIMP	0.736355313	2.05E-07			
Endothelial	GRN	1.22382253	2.13E-07	Growth factor	BrainSpLMD|2896	OMIM|138945;HPO|2896|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Aggressive behavior, Agitation, Alexia, Anxiety, Apathy, Aphasia, Apraxia, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral cortical atrophy, Collectionism, Depressivity, Dilation of lateral ventricles, Disinhibition, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, EEG abnormality, EEG with continuous slow activity, Echolalia, Emotional blunting, Frontotemporal cerebral atrophy, Frontotemporal dementia, Generalized myoclonic seizures, Gliosis, Grammar-specific speech disorder, Hallucinations, Hyperorality, Hypersexuality, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Mutism, Neuronal loss in central nervous system, Optic atrophy, Parkinsonism, Perseveration, Personality changes, Polyphagia, Poor speech, Progressive language deterioration, Rapidly progressive, Repetitive compulsive behavior, Restlessness, Restrictive behavior, Retinal dystrophy, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold, Visual impairment
Endothelial	CDC37	0.868073306	2.13E-07	Chaperone	BrainSpLMD|11140	OMIM|605065
Endothelial	PAM	1.417944493	2.16E-07	Enzyme: Oxygenase	BrainSpLMD|5066;Eurexp|euxassay_007685|atrium, axial skeleton, dorsal grey horn, dorsal root ganglion, extrinsic ocular muscle, eyelid, floorplate, glossopharyngeal IX, hindgut, incisor, inner ear, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 4 and 5, lip, mandible, mantle layer, maxilla, medulla, midgut, molar, neural retina, oesophagus, palatal shelf, pancreas, skeletal muscle, stomach, thyroid, trachea, trigeminal V, vagus X, ventricle, ventricular layer, vibrissa	OMIM|170270
Endothelial	HIF3A	1.281628127	2.17E-07	Transcription factor	BrainSpLMD|64344;BrainSpMouseDev|32897	OMIM|609976
Endothelial	GALNT15	3.303385917	2.18E-07	Enzyme: Galactosyltransferase	BrainSpLMD|117248	OMIM|615131
Endothelial	WIPF1	2.304576924	2.27E-07	Cytoskeletal associated protein	BrainSpLMD|7456	OMIM|602357;HPO|7456|Abnormal platelet morphology, Abnormality of eosinophils, Autoimmunity, Autosomal recessive inheritance, Bruising susceptibility, Chronic diarrhea, Chronic obstructive pulmonary disease, Chronic otitis media, Decreased number of CD8+ T cells, Dyspnea, Eczema, Fatigue, Fever, Hematemesis, Hematochezia, Hemolytic anemia, Immunodeficiency, Inflammation of the large intestine, Lymphopenia, Microcytic anemia, Petechiae, Prolonged bleeding time, Recurrent infections, Recurrent respiratory infections, Reduced natural killer cell activity, Sinusitis, Specific learning disability, Spontaneous hematomas, Thrombocytopenia
Endothelial	COMT	0.818370077	2.27E-07	Enzyme: Acyltransferase	BrainSpLMD|1312;Eurexp|euxassay_018193|basal columns, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, mantle layer, thymus primordium, trigeminal V, vagus X;BrainSpMouseDev|12629	OMIM|116790;HPO|1312|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
Endothelial	SKAP2	2.611897362	2.30E-07	Adapter molecule	BrainSpLMD|8935	OMIM|605215
Endothelial	ATP11A	0.778891902	2.30E-07	ATPase	Eurexp|euxassay_018926|bladder, calyces, choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, meninges, midgut, nucleus pulposus, olfactory, renal/urinary system, submandibular gland primordium, thyroid, trigeminal V, urethra, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|605868
Endothelial	AC007228.9	0.620505865	2.37E-07			
Endothelial	ARPC1B	1.844728553	2.45E-07	Cytoskeletal associated protein	BrainSpLMD|10095	OMIM|604223
Endothelial	RP11.139K1.2	1.866704049	2.48E-07			
Endothelial	ITPRIP	1.583947679	2.50E-07	Unclassified	BrainSpLMD|85450	
Endothelial	PER1	1.106435901	2.52E-07	Transcription regulatory protein	BrainSpLMD|5187;BrainSpMouseDev|18392	SFARI||Autism, 4 - Minimal evidence;OMIM|602260;COSMIC||AML, CMML
Endothelial	SEMA6A	0.719945727	2.59E-07	Integral membrane protein	BrainSpLMD|57556;Eurexp|euxassay_011666|axial skeleton, clavicle, cochlea, mandible, mantle layer, marginal layer, maxilla, meninges, mesenchyme, metanephros, neural retina, palatal shelf, skeletal muscle, submandibular gland primordium, thyroid, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|20121	OMIM|605885
Endothelial	MAP1LC3B	0.879193059	2.60E-07	Unclassified	BrainSpLMD|81631	OMIM|609604
Endothelial	RPS3	0.615100085	2.63E-07	Ribosomal subunit		OMIM|600454
Endothelial	GBE1	1.537146375	2.66E-07	Enzyme: Glycosyltransferase	BrainSpLMD|2632	OMIM|607839;HPO|2632|Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Abnormality of metabolism/homeostasis, Abnormality of the cerebral white matter, Adult onset, Arthrogryposis multiplex congenita, Ascites, Autosomal recessive inheritance, Behavioral abnormality, Cardiomyopathy, Cirrhosis, Cognitive impairment, Decreased fetal movement, Distal sensory impairment, Edema, Esophageal varix, Failure to thrive, Gait disturbance, Generalized hypotonia, Hemiparesis, Hepatic failure, Hepatosplenomegaly, Hydrops fetalis, Intellectual disability, Muscle weakness, Neurogenic bladder, Paresthesia, Peripheral axonal neuropathy, Polyhydramnios, Portal hypertension, Reduced tendon reflexes, Skeletal muscle atrophy, Skin ulcer, Slow progression, Spastic paraplegia, Spasticity, Tetraparesis, Tubulointerstitial fibrosis, Urinary bladder sphincter dysfunction, Urinary incontinence
Endothelial	CPM	2.091567068	2.69E-07	Carboxypeptidase	BrainSpLMD|1368;Eurexp|euxassay_012219|cornea, femur, fibula, hindgut, humerus, metatarsus, midgut, naris, olfactory, pelvic girdle, penis, rib, stomach, submandibular gland primordium, tarsus, thymus primordium, tibia, ventricular layer, vibrissa	OMIM|114860
Endothelial	GSTP1	0.86899997	2.72E-07	Enzyme: Glutathione transferase	BrainSpLMD|2950;Eurexp|euxassay_006221|lobe	OMIM|134660
Endothelial	CYB5R3	1.425167219	2.80E-07	Enzyme: Reductase	BrainSpLMD|1727	OMIM|613213;HPO|1727|Autosomal recessive inheritance, Cyanosis, Exertional dyspnea, Global developmental delay, Growth delay, Headache, Hypertonia, Intellectual disability, Methemoglobinemia, Microcephaly, Opisthotonus, Polycythemia, Strabismus
Endothelial	EPHB4	2.302815355	2.90E-07	Receptor tyrosine kinase	BrainSpLMD|2050;Eurexp|euxassay_018945|mesenchyme;BrainSpMouseDev|13624	OMIM|600011
Endothelial	MAP3K11	2.346657112	3.02E-07	Serine/threonine kinase	BrainSpLMD|4296	OMIM|600050
Endothelial	MX1	3.030451652	3.03E-07	GTPase	BrainSpLMD|4599	OMIM|147150
Endothelial	PDZD2	1.066746681	3.15E-07	Unclassified	BrainSpLMD|23037;BrainSpMouseDev|43913	OMIM|610697
Endothelial	ERAP1	1.569591175	3.17E-07	Aminopeptidase	BrainSpLMD|51752;Eurexp|euxassay_002116|thymus primordium	OMIM|606832;HPO|51752|Abdominal pain, Abnormal blistering of the skin, Acne, Arthralgia, Arthritis, Confusion, Fatigue, Fever, Gait disturbance, Gastrointestinal hemorrhage, Hemiparesis, Immunologic hypersensitivity, Meningitis, Migraine, Myalgia, Nausea and vomiting, Oral ulcer, Orchitis, Papule, Photophobia, Recurrent aphthous stomatitis, Subcutaneous nodule, Vasculitis, Venous thrombosis
Endothelial	SETD3	1.245894555	3.27E-07	Enzyme: Methyltransferase	BrainSpLMD|84193	OMIM|615671
Endothelial	GPCPD1	1.548311224	3.27E-07	Enzyme: Phosphodiesterase	BrainSpLMD|56261	OMIM|614124
Endothelial	PARP4	1.44656551	3.30E-07	Enzyme: Ribosyltransferase	BrainSpLMD|143	OMIM|607519
Endothelial	PRR5L	1.554918269	3.32E-07	Unclassified	BrainSpLMD|79899;Eurexp|euxassay_004195|cortex, cranium, dermis, mandible, maxilla, molar, penis	OMIM|611728
Endothelial	NID2	1.408804402	3.36E-07	Extracellular matrix protein	BrainSpLMD|22795	OMIM|605399
Endothelial	MMD	1.32320303	3.38E-07	Integral membrane protein	BrainSpLMD|23531;Eurexp|euxassay_002968|Meckel's cartilage, axial skeleton, bladder, dorsal root ganglion, facial VII, foregut-midgut junction, glossopharyngeal IX, head mesenchyme, hindgut, incisor, limb, midgut, molar, nasal capsule, neural retina, oesophagus, olfactory, pectoral girdle and thoracic body wall, rectum, retina, rib, stomach, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|604467
Endothelial	VSIG10	1.2179169	3.40E-07	Unclassified	BrainSpLMD|54621	
Endothelial	LPP	1.066090879	3.49E-07	Unclassified	BrainSpLMD|4026	OMIM|600700;COSMIC||lipoma, leukaemia
Endothelial	LHFPL2	1.119902953	3.49E-07	Unclassified	BrainSpLMD|10184	OMIM|609718
Endothelial	IER2	1.158977399	3.61E-07	Transcription factor	BrainSpLMD|9592;Eurexp|euxassay_013742|cochlea, incisor, molar, submandibular gland primordium, utricle, vestibular component, vibrissa	
Endothelial	TWIST1	1.657068654	3.62E-07	Transcription factor	BrainSpLMD|7291;Eurexp|euxassay_005335|valve;BrainSpMouseDev|21917	OMIM|601622;HPO|7291|Abnormal heart morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the nasolacrimal system, Absent first metatarsal, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharospasm, Brachycephaly, Brachydactyly, Breast carcinoma, Broad forehead, Broad hallux, Buphthalmos, Cleft of chin, Cleft palate, Clinodactyly of the 5th finger, Convex nasal ridge, Coronal craniosynostosis, Craniosynostosis, Delayed cranial suture closure, Depressed nasal bridge, Dolichocephaly, Duplication of phalanx of hallux, External ear malformation, Facial asymmetry, Finger syndactyly, Flat face, Flat forehead, Frontal bossing, Hallux valgus, Hearing impairment, High forehead, Hyperlordosis, Hypertelorism, Hypoplasia of the maxilla, Increased intracranial pressure, Intellectual disability, moderate, Lambdoidal craniosynostosis, Long nose, Low anterior hairline, Low-set ears, Malar flattening, Microtia, Narrow internal auditory canal, Narrow nose, Narrow palate, Open bite, Oxycephaly, Parietal foramina, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of the distal phalanx of the 3rd finger, Plagiocephaly, Prominent crus of helix, Prominent nasal bridge, Proptosis, Ptosis, Radioulnar synostosis, Scaphocephaly, Shallow orbits, Short stature, Skull asymmetry, Strabismus, Toe syndactyly, Turricephaly, Underdeveloped supraorbital ridges, Variable expressivity, Visual field defect
Endothelial	TMEM258	0.260694726	3.69E-07	Integral membrane protein	BrainSpLMD|746	OMIM|617615
Endothelial	ATOX1	0.92544668	3.74E-07	Chaperone	BrainSpLMD|475	OMIM|602270
Endothelial	MT.TM	0.958493651	3.80E-07			
Endothelial	COQ10B	0.397298525	3.83E-07	Unclassified	BrainSpLMD|80219	
Endothelial	TMEM141	0.660768384	3.92E-07	Unclassified	BrainSpLMD|85014	
Endothelial	CTNNA1	1.038881767	3.92E-07	Cytoskeletal protein	BrainSpLMD|1495;Eurexp|euxassay_018188|embryo	OMIM|116805;HPO|1495|Autosomal dominant inheritance
Endothelial	FBN1	2.301492558	3.96E-07	Extracellular matrix protein	BrainSpLMD|2200	SFARI||Autism, 3 - Suggestive evidence;OMIM|134797;HPO|2200|Abnormal cardiac ventricle morphology, Abnormal echocardiogram, Abnormality of dental morphology, Abnormality of the eyebrow, Abnormality of the iris, Abnormality of the sternum, Adducted thumb, Anteverted nares, Aortic dilatation, Aortic dissection, Aortic regurgitation, Aortic root dilatation, Aortic valve stenosis, Arachnodactyly, Ascending aortic dilation, Ascending aortic dissection, Autosomal dominant inheritance, Blindness, Blue sclerae, Brachycephaly, Brachydactyly, Broad metacarpals, Broad metatarsal, Broad palm, Broad phalanges of the hand, Broad ribs, Broad skull, Bruising susceptibility, Bulbous nose, Cardiomegaly, Cataract, Chest pain, Cognitive impairment, Cone-shaped epiphysis, Congestive heart failure, Coronary artery disease, Craniosynostosis, Crumpled ear, Cutis laxa, Cutis marmorata, Cystic medial necrosis of the aorta, Decreased muscle mass, Decreased nerve conduction velocity, Decreased testicular size, Deep philtrum, Deeply set eye, Delayed skeletal maturation, Dental crowding, Depressed nasal bridge, Descending aortic dissection, Dilatation of ascending aorta, Disproportionate tall stature, Dolichocephaly, Downslanted palpebral fissures, Dural ectasia, Ectopia lentis, Emphysema, Enlarged thorax, Exertional dyspnea, Feeding difficulties, Fifth metacarpal with ulnar notch, Flexion contracture, Full cheeks, Genu recurvatum, Glaucoma, Hammertoe, Heart murmur, Hepatomegaly, High palate, High, narrow palate, Hoarse voice, Hyperextensibility of the finger joints, Hypertelorism, Hypertension, Hypoplasia of the iris, Hypoplasia of the maxilla, Hyporeflexia, Hypoxemia, Incisional hernia, Increased arm span, Increased axial globe length, Intellectual disability, mild, Intrauterine growth retardation, Iridodonesis, Joint hypermobility, Joint stiffness, Kyphoscoliosis, Lack of skin elasticity, Left ventricular failure, Limitation of joint mobility, Lipoatrophy, Long eyelashes, Long face, Long philtrum, Long toe, Low-set ears, Lumbar hyperlordosis, Macrocephaly, Malar flattening, Mandibular prognathia, Medial rotation of the medial malleolus, Megalocornea, Micrognathia, Microspherophakia, Misalignment of teeth, Mitral annular calcification, Mitral regurgitation, Mitral stenosis, Mitral valve prolapse, Motor delay, Muscular hypotonia, Myopia, Narrow face, Narrow mouth, Narrow nose, Narrow palate, Neonatal respiratory distress, Oligohydramnios, Ovoid vertebral bodies, Paroxysmal dyspnea, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pes cavus, Pes planus, Pes valgus, Pneumothorax, Premature birth, Premature osteoarthritis, Prominent forehead, Prominent nasal bridge, Proportionate short stature, Proptosis, Protrusio acetabuli, Pulmonary arterial hypertension, Pulmonary artery dilatation, Pulmonic stenosis, Reduced subcutaneous adipose tissue, Respiratory insufficiency, Retinal detachment, Retrognathia, Round face, Scaphocephaly, Scoliosis, Severe Myopia, Severe short stature, Shallow anterior chamber, Shallow orbits, Short foot, Short long bone, Short metacarpal, Short nose, Short palm, Short phalanx of finger, Short stature, Short thumb, Small for gestational age, Small hand, Smooth philtrum, Spinal canal stenosis, Spondylolisthesis, Stiff skin, Striae distensae, Talipes calcaneovarus, Tall stature, Thick lower lip vermilion, Thickened skin, Thin bony cortex, Thin upper lip vermilion, Toe walking, Tricuspid regurgitation, Tricuspid valve prolapse, Ventricular septal defect, Wide nasal bridge
Endothelial	MYO5C	2.030236573	4.22E-07	Motor protein	BrainSpLMD|55930;Eurexp|euxassay_010683|cochlea, lung, oesophagus, olfactory, pancreas, rectum, stomach, submandibular gland primordium, thyroid, trachea	SFARI||Autism, 4 - Minimal evidence;OMIM|610022
Endothelial	HSPA6	3.003405448	4.23E-07	Heat shock protein	BrainSpLMD|3310	OMIM|140555
Endothelial	RN7SL832P	1.368068883	4.35E-07			
Endothelial	MRPL17	0.804134736	4.35E-07	Ribosomal subunit	BrainSpLMD|63875;Eurexp|euxassay_010706|axial skeleton, clavicle, liver, mandible, maxilla, orbito-sphenoid, rib, submandibular gland primordium, thymus primordium, turbinate bones	OMIM|611830
Endothelial	HSD17B11	1.539837285	4.38E-07	Enzyme: Dehydrogenase	BrainSpLMD|51170;Eurexp|euxassay_012521|epithelium, olfactory	OMIM|612831
Endothelial	CTSO	1.429869616	4.47E-07	Cysteine protease	BrainSpLMD|1519;Eurexp|euxassay_006855|4th ventricle, choroid plexus, ventricular layer;BrainSpMouseDev|86867	OMIM|600550
Endothelial	SMAD7	2.316524072	4.48E-07	Transcription regulatory protein	BrainSpLMD|4092;BrainSpMouseDev|16901	OMIM|602932
Endothelial	ILK	1.535612071	4.51E-07	Serine/threonine kinase	BrainSpLMD|3611	OMIM|602366
Endothelial	PPM1F	1.446203595	4.58E-07	Serine/threonine phosphatase	BrainSpLMD|9647;Eurexp|euxassay_004441|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	
Endothelial	GPX1	1.600431094	4.59E-07	Enzyme: Peroxidase	BrainSpLMD|2876;BrainSpMouseDev|14551	SFARI||Autism, 4 - Minimal evidence;OMIM|138320;HPO|2876|Autosomal recessive inheritance, Compensated hemolytic anemia, Neonatal hyperbilirubinemia
Endothelial	NFATC2	2.022902443	4.78E-07	Transcription factor	BrainSpLMD|4773;Eurexp|euxassay_013856|lip;BrainSpMouseDev|17786	OMIM|600490;COSMIC||Ewing sarcoma
Endothelial	FAM111A	0.550762165	5.00E-07	Unclassified	BrainSpLMD|63901;Eurexp|euxassay_011616|lobe, mandible, maxilla, orbito-sphenoid, thymus primordium, thyroid, ventricular layer	OMIM|615292;HPO|63901|Abnormality of the medullary cavity of the long bones, Anemia, Aniridia, Ankyloglossia, Ascites, Autosomal dominant inheritance, Basal ganglia calcification, Brachydactyly, Congenital cataract, Delayed closure of the anterior fontanelle, Failure to thrive, Flared metaphysis, Global developmental delay, Hydrocephalus, Hypermetropia, Hypocalcemia, Hypoparathyroidism, Hypoplastic spleen, Increased bone mineral density, Macrocephaly, Micropenis, Microphthalmia, Papilledema, Prominent forehead, Retinal calcification, Seizures, Severe short stature, Short stature, Slender long bone, Small for gestational age, Thickened cortex of long bones, Transient hypophosphatemia
Endothelial	RPS4X	0.570373191	5.10E-07	Ribosomal subunit	BrainSpLMD|6191;BrainSpMouseDev|19865	OMIM|312760
Endothelial	ZBTB38	1.254440669	5.24E-07	Transcription regulatory protein		OMIM|612218
Endothelial	ZIC5	1.008934462	5.46E-07	DNA binding protein	BrainSpLMD|85416;BrainSpMouseDev|41618	
Endothelial	CKMT2	0.866428029	5.47E-07	Enzyme: Phosphotransferase	BrainSpLMD|1160	OMIM|123295
Endothelial	MSNP1	0.792150116	5.54E-07			
Endothelial	RNF213	0.501638219	5.55E-07	Unclassified	BrainSpLMD|57674	OMIM|613768;COSMIC||ALCL;HPO|57674|Abnormality of the cerebral vasculature, Intellectual disability, Seizures, Telangiectasia, Ventriculomegaly
Endothelial	GOLPH3	1.140864113	5.68E-07	Transport/cargo protein	BrainSpLMD|64083	OMIM|612207
Endothelial	TDRP	1.18524648	5.71E-07	Unclassified	BrainSpLMD|157695	
Endothelial	TPST2	1.863120517	5.73E-07	Enzyme: Sulphotransferase	BrainSpLMD|8459	OMIM|603126
Endothelial	HEXB	0.88827858	5.75E-07	Enzyme: Hydrolase	BrainSpLMD|3074;Eurexp|euxassay_011735|brain, mesenchyme, spinal cord, sternum	OMIM|606873;HPO|3074|Abnormality of glycosphingolipid metabolism, Ataxia, Blindness, Cardiomegaly, Cherry red spot of the macula, Chronic diarrhea, Coarse facial features, Dysarthria, Episodic abdominal pain, Fasciculations, Hepatosplenomegaly, Hyperhidrosis, Hyperreflexia, Hypohidrosis, Impaired thermal sensitivity, Impotence, Macrocephaly, Macroglossia, Muscle weakness, Orthostatic hypotension, Progressive psychomotor deterioration, Skeletal muscle atrophy, Urinary incontinence
Endothelial	BAMBI	2.529578842	5.78E-07	Unclassified	BrainSpLMD|25805;Eurexp|euxassay_003079|Meckel's cartilage, axial skeleton, basisphenoid bone, bladder, calyces, chondrocranium, clavicle, ductus deferens, exoccipital bone, external, femur, genital tubercle, glossopharyngeal IX, incisor, limb, lip, lung, mesenchyme, molar, nasal capsule, orbito-sphenoid, penis, rib, skin, trigeminal V, turbinate, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|43853	OMIM|604444
Endothelial	STAT6	2.462576562	6.07E-07	Transcription factor	BrainSpLMD|6778;Eurexp|euxassay_019507|bladder, oesophagus, olfactory, submandibular gland primordium, urethra	OMIM|601512;COSMIC||solitary fibrous tumour, meningeal haemangiopericytoma
Endothelial	LTA4H	1.679552752	6.09E-07	Enzyme: Hydrolase	BrainSpLMD|4048	OMIM|151570
Endothelial	AAGAB	2.051219805	6.19E-07	Unclassified	BrainSpLMD|79719;Eurexp|euxassay_012478|dorsal root ganglion, ventricular layer	OMIM|614888;HPO|79719|Abnormality of the skin, Autosomal dominant inheritance, Breast carcinoma, Colon cancer, Heterogeneous, Hodgkin lymphoma, Late onset, Neoplasm of the pancreas, Palmoplantar keratoderma, Renal cell carcinoma, Transitional cell carcinoma of the bladder
Endothelial	MAP3K3	0.650270457	6.43E-07	Serine/threonine kinase	BrainSpLMD|4215	OMIM|602539
Endothelial	FGFR1	0.632226989	6.44E-07	Receptor tyrosine kinase	BrainSpLMD|2260;BrainSpMouseDev|13959	OMIM|136350;COSMIC||MPN, NHL, salivary adenoma, Pfeiffer syndrome, Kallman syndrome;HPO|2260|2-3 toe syndactyly, Abnormal form of the vertebral bodies, Abnormality of body height, Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Abnormality of the clavicle, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Absent septum pellucidum, Agenesis of corpus callosum, Alopecia, Anosmia, Anterior hypopituitarism, Anterior pituitary hypoplasia, Anteverted nares, Anxiety, Aphasia, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Arachnoid cyst, Arnold-Chiari malformation, Atrial septal defect, Autosomal dominant inheritance, Bicoronal synostosis, Bimanual synkinesia, Bone cyst, Bowing of the long bones, Brachycephaly, Brachyturricephaly, Breast hypoplasia, Broad foot, Broad hallux, Broad hallux phalanx, Broad metacarpals, Broad metatarsal, Broad palm, Broad phalanx, Broad thumb, Bronchomalacia, Calcaneonavicular fusion, Capillary hemangiomas, Cartilaginous trachea, Cerebellar hypoplasia, Cerebral calcification, Cerebral cortical atrophy, Choanal atresia, Choanal stenosis, Chordee, Cleft eyelid, Cleft palate, Cleft upper lip, Cloverleaf skull, Corneal opacity, Coronal craniosynostosis, Cortical dysplasia, Craniofacial hyperostosis, Craniosynostosis, Cryptorchidism, Dandy-Walker malformation, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Depressivity, Diabetes insipidus, Downslanted palpebral fissures, Dysphasia, Echolalia, Ectrodactyly, Elbow ankylosis, Encephalocele, Epibulbar dermoid, Epicanthus, Erectile abnormalities, Eunuchoid habitus, Failure to thrive, Failure to thrive in infancy, Female hypogonadism, Finger syndactyly, Frontal bossing, Global developmental delay, Gonadotropin deficiency, Gynecomastia, Hallux varus, Hemiplegia/hemiparesis, Heterogeneous, High forehead, High palate, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hypernatremia, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the frontal bone, Hypoplasia of the iris, Hypoplasia of the maxilla, Hypoplasia of the ovary, Hypoplasia of the uterus, Hypoplastic scapulae, Hypoplastic toenails, Hyposmia, Hypospadias, Hypotelorism, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Incomplete penetrance, Increased female libido, Increased susceptibility to fractures, Inguinal hernia, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Limb undergrowth, Linear hyperpigmentation, Lipodystrophy, Lipoma, Lipomas of the central neryous system, Lobar holoprosencephaly, Long penis, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hemivertebrae, Macrocephaly, Malar flattening, Male hypogonadism, Mandibular prognathia, Meckel diverticulum, Microcephaly, Microdontia, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Multiple lipomas, Multiple unerupted teeth, Muscle stiffness, Mutism, Nasal obstruction, Neonatal hypotonia, Neoplasm of the skeletal system, Nevus flammeus, Non-midline cleft lip, Non-obstructive azoospermia, Nystagmus, Oligodontia, Omphalocele, Osteolysis, Osteopenia, Osteoporosis, Pelvic kidney, Peripheral pulmonary artery stenosis, Platyspondyly, Posteriorly rotated ears, Preauricular skin tag, Primary amenorrhea, Prominent supraorbital ridges, Proptosis, Protruding ear, Pseudoarthrosis, Ptosis, Pulmonary arterial hypertension, Reduced bone mineral density, Reduced number of teeth, Respiratory distress, Respiratory insufficiency, Retinopathy, Rhizomelia, Rigidity, Sclerocornea, Secondary amenorrhea, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Severe short stature, Shallow orbits, Short foot, Short hallux, Short metacarpal, Short metatarsal, Short middle phalanx of toe, Short neck, Short nose, Short palm, Short phalanx of finger, Short stature, Shortening of all middle phalanges of the fingers, Somatic mosaicism, Sparse body hair, Spasticity, Split hand, Sporadic, Strabismus, Subcortical cerebral atrophy, Subcutaneous lipoma, Subcutaneous nodule, Subvalvular aortic stenosis, Syndactyly, Synophrys, Telecanthus, Toe syndactyly, Tricuspid valve prolapse, Trigonocephaly, Unerupted tooth, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide intermamillary distance, Wide nasal bridge, Wide nose, Xanthomatosis
Endothelial	TCF7L1.IT1	1.239432548	6.45E-07			
Endothelial	NFE2L2	0.611501558	6.46E-07	Transcription factor	BrainSpLMD|4780;Eurexp|euxassay_018087|larynx, midgut, rectum, stomach, submandibular gland primordium, thyroid, trachea;BrainSpMouseDev|17791	OMIM|600492;COSMIC||NSCLC, HNSCC
Endothelial	HERC2P2	1.620277374	6.63E-07	-		
Endothelial	SNORA28	0.299873664	6.71E-07			
Endothelial	IPO11	1.2483696	7.07E-07	Transport/cargo protein	BrainSpLMD|51194	OMIM|610889
Endothelial	CCNT1	1.641796356	7.29E-07	Cell cycle control protein	BrainSpLMD|904	OMIM|143055
Endothelial	STARD9	1.862628104	7.33E-07	Unclassified		OMIM|614642
Endothelial	PSEN2	1.114579445	7.45E-07	Integral membrane protein	BrainSpLMD|5664;Eurexp|euxassay_004270|olfactory;BrainSpMouseDev|18928	OMIM|600759;HPO|5664|Alzheimer disease, Autosomal dominant inheritance, Cerebral amyloid angiopathy, Congestive heart failure, Dementia, Dilated cardiomyopathy, Middle age onset, Sleep-wake cycle disturbance, Syncope
Endothelial	TMEM101	1.153620618	7.48E-07	Unclassified	BrainSpLMD|84336	
Endothelial	COMMD10	0.277620964	7.49E-07	Unclassified	BrainSpLMD|51397	OMIM|616704
Endothelial	RPS6KA2	1.297874708	7.50E-07	Serine/threonine kinase	BrainSpLMD|6196;Eurexp|euxassay_010093|cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|601685
Endothelial	NPIPB4	1.678802776	7.51E-07			
Endothelial	PPP1R15B	1.007342037	7.65E-07	Regulatory/other subunit	BrainSpLMD|84919	OMIM|613257;HPO|84919|Abnormal vertebral morphology, Autosomal recessive inheritance, Brisk reflexes, Delayed puberty, Dysarthria, Fine hair, Gait ataxia, Hearing impairment, High pitched voice, Intellectual disability, severe, Intrauterine growth retardation, Kinetic tremor, Kyphoscoliosis, Microcephaly, Oligodontia, Pectus excavatum, Phenotypic variability, Recurrent hypoglycemia, Seizures, Short stature, Small for gestational age, Sparse hair, Spasticity
Endothelial	KBTBD2	1.146773263	7.79E-07	Cytoskeletal associated protein	BrainSpLMD|25948	
Endothelial	SMG1P5	1.506107835	8.04E-07			
Endothelial	PNPO	0.800159062	8.19E-07	Enzyme: Oxidase	BrainSpLMD|55163;Eurexp|euxassay_018614|liver, lobe, mesenchyme	OMIM|603287;HPO|55163|Abnormality of eye movement, Anemia, Autosomal recessive inheritance, Decreased CSF homovanillic acid, Encephalopathy, Failure to thrive, Feeding difficulties in infancy, Global developmental delay, Hypertonia, Hypoglycemia, Increased serum lactate, Metabolic acidosis, Muscular hypotonia of the trunk, Myoclonus, Premature birth, Progressive microcephaly, Seizures, Unsteady gait
Endothelial	DTX3L	0.677263295	8.32E-07	Ubiquitin proteasome system protein	BrainSpLMD|151636	OMIM|613143
Endothelial	DISC1	1.433161964	8.34E-07	Unclassified	BrainSpLMD|27185;BrainSpMouseDev|89267	SFARI||Autism, 3 - Suggestive evidence;OMIM|605210
Endothelial	SLC16A2	1.414550907	8.67E-07	Transport/cargo protein	BrainSpLMD|6567;Eurexp|euxassay_019716|choroid plexus, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lung, mantle layer, mesenchyme, pericardium, pituitary, thyroid, trigeminal V, vertebral axis muscle system, vibrissa;BrainSpMouseDev|20264	OMIM|300095;HPO|6567|Abnormal conjugate eye movement, Abnormality of the neck, Absent speech, Aphasia, Ataxia, Athetosis, Babinski sign, Bilateral single transverse palmar creases, Biparietal narrowing, Bowel incontinence, Clonus, Congenital onset, Delayed CNS myelination, Drooling, Dysarthria, Feeding difficulties in infancy, Flexion contracture, Generalized amyotrophy, Hallux valgus, Hyperreflexia, Hypoplasia of the musculature, Hypoplasia of the zygomatic bone, Hypothyroidism, Inability to walk, Increased thyroid-stimulating hormone level, Intellectual disability, progressive, Intellectual disability, severe, Irritability, Joint stiffness, Leukodystrophy, Macrotia, Microcephaly, Narrow face, Narrow forehead, Neonatal hypotonia, Open mouth, Pectus excavatum, Pes planus, Prominent antihelix, Scoliosis, Severe global developmental delay, Skeletal muscle atrophy, Spastic paraplegia, Spastic tetraplegia, Stahl ear, Underfolded superior helices, Upslanted palpebral fissure, Urinary incontinence, X-linked dominant inheritance
Endothelial	GRB10	0.897918688	8.72E-07	Adapter molecule	BrainSpLMD|2887;Eurexp|euxassay_011372|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|601523
Endothelial	SQSTM1	1.312456124	9.29E-07	Ubiquitin proteasome system protein	BrainSpLMD|8878	OMIM|601530;HPO|8878|Abnormal brain FDG positron emission tomography, Abnormal lower motor neuron morphology, Abnormal pyramidal signs, Abnormality of pelvic girdle bone morphology, Abnormality of the cerebral white matter, Absent Achilles reflex, Aggressive behavior, Amyotrophic lateral sclerosis, Anxiety, Apathy, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone pain, Brain stem compression, Bulbar palsy, Cerebral cortical atrophy, Collectionism, Cranial nerve paralysis, Depressivity, Disinhibition, Dysarthria, Dyscalculia, Dysdiadochokinesis, Dysgraphia, Dyslexia, Dysmetria, Dysphagia, Dysphasia, Dyspnea, Dystonia, EEG with continuous slow activity, EMG: myopathic abnormalities, EMG: myotonic discharges, EMG: positive sharp waves, Echolalia, Elevated alkaline phosphatase, Elevated serum creatine phosphokinase, Emotional blunting, Emotional lability, Facial palsy, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Fatty replacement of skeletal muscle, Foot dorsiflexor weakness, Fractures of the long bones, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait ataxia, Generalized muscle weakness, Heterogeneous, Hip flexor weakness, Hydroxyprolinuria, Hyperorality, Hyperreflexia, Hyporeflexia, Hypothyroidism, Inappropriate behavior, Increased susceptibility to fractures, Increased variability in muscle fiber diameter, Irritability, Lack of insight, Language impairment, Limb ataxia, Limited shoulder movement, Limited wrist extension, Long-tract signs, Loss of speech, Memory impairment, Mental deterioration, Mildly elevated creatine phosphokinase, Muscle cramps, Muscle fiber inclusion bodies, Mutism, Neurodegeneration, Nystagmus, Oculomotor apraxia, Osteolysis, Osteosarcoma, Pain, Paralysis, Paraparesis, Patchy osteosclerosis, Perseveration, Personality changes, Phenotypic variability, Poor speech, Premature loss of teeth, Progressive, Respiratory failure, Restlessness, Restrictive behavior, Rimmed vacuoles, Scapular winging, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Spasticity, Steppage gait, Stereotypy, Tetraparesis, Thickened nuchal skin fold, Tibialis muscle weakness, Tremor, Variable expressivity, Vertebral compression fractures, Vertical supranuclear gaze palsy, Xerostomia
Endothelial	CDKN1C	1.057562708	9.54E-07	Cell cycle control protein	BrainSpLMD|1028	OMIM|600856;HPO|1028|Accelerated skeletal maturation, Adrenal hypoplasia, Adrenocortical carcinoma, Adrenocortical cytomegaly, Autosomal dominant inheritance, Cardiomegaly, Cardiomyopathy, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Decreased testicular size, Delayed skeletal maturation, Depressed nasal bridge, Diastasis recti, Enlarged kidney, Epiphyseal dysplasia, Frontal bossing, Gonadoblastoma, Growth hormone deficiency, Hemihypertrophy, Hepatoblastoma, Hepatomegaly, Hydronephrosis, Hypercalcemia, Hypercalciuria, Hypogonadism, Hypospadias, Intrauterine growth retardation, Large fontanelles, Low-set ears, Macroglossia, Metaphyseal dysplasia, Micromelia, Micropenis, Midface retrusion, Muscular hypotonia, Neonatal hypoglycemia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Omphalocele, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Posterior helix pit, Postnatal growth retardation, Prominent forehead, Prominent metopic ridge, Prominent occiput, Proptosis, Renal cortical cysts, Short nose, Short stature, Vesicoureteral reflux
Endothelial	NPAS2	1.296325763	9.65E-07	Transcription factor	BrainSpLMD|4862;BrainSpMouseDev|17910	SFARI||Autism, 4 - Minimal evidence;OMIM|603347
Endothelial	CDYL	1.079343989	9.70E-07	Transcription regulatory protein	BrainSpLMD|9425	OMIM|603778
Endothelial	AP1S2	0.950671341	9.77E-07	Transport/cargo protein	BrainSpLMD|8905;Eurexp|euxassay_004097|renal/urinary system	SFARI||Autism, No category;OMIM|300629;HPO|8905|Aggressive behavior, Aplasia/Hypoplasia of the cerebellum, Autistic behavior, Cerebral calcification, Cerebral cortical atrophy, Coarse facial features, Cryptorchidism, Gait disturbance, Global developmental delay, High palate, Hydrocephalus, Inguinal hernia, Intellectual disability, moderate, Long face, Macrocephaly, Macrotia, Muscular hypotonia, Poor speech, Scoliosis, Short philtrum, Spastic diplegia, Strabismus, Ventriculomegaly
Endothelial	REST	1.398636022	9.82E-07	Transcription regulatory protein	BrainSpLMD|5978;BrainSpMouseDev|19475	OMIM|600571;HPO|5978|Abdominal pain, Gingival fibromatosis, Gingival overgrowth, Nephroblastoma
Endothelial	RGS5	2.356408602	1.00E-06	GTPase activating protein	BrainSpLMD|8490;Eurexp|euxassay_005268|aorta, brain, ductus deferens, hindgut, lung, mesenchyme, metanephros, midgut, molar, olfactory, palatal shelf, pericardium, stomach, thymus primordium	OMIM|603276
Endothelial	LAMP2	0.635823426	1.04E-06	Adhesion molecule	BrainSpLMD|3920	OMIM|309060;HPO|3920|Arrhythmia, Cardiomegaly, Cardiorespiratory arrest, Cognitive impairment, Dilated cardiomyopathy, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Exercise intolerance, Exercise-induced muscle cramps, Gait disturbance, Generalized amyotrophy, Global developmental delay, Hypertrophic cardiomyopathy, Hypokinesia, Intellectual disability, Muscle flaccidity, Myocardial fibrosis, Myocardial necrosis, Pes cavus, Phenotypic variability, Proximal muscle weakness, Visual impairment, Wolff-Parkinson-White syndrome, X-linked dominant inheritance
Endothelial	NPC2	1.479909288	1.04E-06	Transport/cargo protein	BrainSpLMD|10577;Eurexp|euxassay_001964|cervical, cervico-thoracic, left lung, mantle layer, marginal layer, right lung, stomach, thoracic, trachea, ventral grey horn, ventricular layer	OMIM|601015;HPO|10577|Abnormal cholesterol homeostasis, Ataxia, Autosomal recessive inheritance, Bone-marrow foam cells, Cataplexy, Dementia, Dysarthria, Dysphagia, Dystonia, Fetal ascites, Foam cells in visceral organs and CNS, Generalized hypotonia, Global developmental delay, Hepatomegaly, Heterogeneous, Intellectual disability, Loss of speech, Low cholesterol esterification rates, Neurofibrillary tangles, Onset, Perseveration, Prolonged neonatal jaundice, Psychosis, Respiratory failure, Sea-blue histiocytosis, Seizures, Spasticity, Splenomegaly, Stereotypy, Vertical supranuclear gaze palsy
Endothelial	RP11.466P24.2	0.754731674	1.05E-06			
Endothelial	CHST2	1.829568586	1.08E-06	Enzyme: Sulphotransferase	BrainSpLMD|9435;Eurexp|euxassay_012897|head mesenchyme, incisor, lip, mantle layer, mesenchyme, molar, pancreas, submandibular gland primordium, ventral grey horn, ventricular layer;BrainSpMouseDev|33662	OMIM|603798
Endothelial	C3orf58	0.781564846	1.09E-06	Unclassified	BrainSpLMD|205428	SFARI||Autism, 4 - Minimal evidence;OMIM|612200
Endothelial	EDNRB	1.385632205	1.12E-06	G protein coupled receptor	BrainSpLMD|1910;Eurexp|euxassay_002855|4th ventricle, bladder, choroid plexus, cochlear component, dorsal root ganglion, ductus deferens, facial VII, foregut-midgut junction, glossopharyngeal IX, heart, hindgut, inferior, intrinsic, lateral recess, loop, mantle layer, meninges, mesenchyme, midgut, oesophagus, rectum, stomach, superior, tail, tongue, trigeminal V, turbinate bones, urethra, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vestibular component, vestibulocochlear VIII;BrainSpMouseDev|13396	OMIM|131244;HPO|1910|Abdominal pain, Abnormal auditory evoked potentials, Abnormal macular morphology, Abnormality of vision, Aganglionic megacolon, Albinism, Ataxia, Autonomic dysregulation, Autosomal dominant inheritance, Autosomal recessive inheritance, Blue irides, Constipation, Global developmental delay, Hearing impairment, Heterochromia iridis, Heterogeneous, Hypopigmentation of the fundus, Hypopigmented skin patches, Intestinal obstruction, Large for gestational age, Leukodystrophy, Muscular hypotonia, Nausea and vomiting, Nystagmus, Olfactory lobe agenesis, Polyneuropathy, Premature graying of hair, Prominent nasal bridge, Sensorineural hearing impairment, Spastic paraparesis, Synophrys, Underdeveloped nasal alae, Weight loss, White eyebrow, White eyelashes, White forelock, Wide nasal bridge
Endothelial	FRMD6	0.871390437	1.12E-06	Unclassified	BrainSpLMD|122786;Eurexp|euxassay_002791|basal plate, lung, submandibular gland primordium, thymus primordium, vibrissa	OMIM|614555
Endothelial	CREM	1.393541554	1.16E-06	Transcription factor	BrainSpLMD|1390	OMIM|123812
Endothelial	LINC00998	1.164812376	1.20E-06			
Endothelial	MSX1	1.727660441	1.20E-06	Transcription regulatory protein	BrainSpLMD|4487;BrainSpMouseDev|17468	OMIM|142983;HPO|4487|Agenesis of permanent teeth, Autosomal dominant inheritance, Cleft palate, Cleft upper lip, Concave nail, Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Fine hair, Fragile nails, Hypodontia, Hypoplasia of the maxilla, Hypoplastic fingernail, Hypoplastic toenails, Microdontia, Microdontia of primary teeth, Micrognathia, Nail pits, Oligodontia, Ridged fingernail, Ridged nail, Small nail, Sparse hair, Thin toenail
Endothelial	ESYT2	1.048346462	1.23E-06	Unclassified	BrainSpLMD|57488	OMIM|616691
Endothelial	TMC7	0.587574157	1.23E-06	Integral membrane protein	BrainSpLMD|79905	OMIM|617198
Endothelial	PDCL	0.705232882	1.28E-06	Regulatory/other subunit	BrainSpLMD|5082	OMIM|604421
Endothelial	TMEM123	0.725841344	1.29E-06	Cell surface receptor	BrainSpLMD|114908	OMIM|606356
Endothelial	ALDH9A1	1.399417488	1.30E-06	Enzyme: Dehydrogenase	BrainSpLMD|223	OMIM|602733
Endothelial	GOLIM4	0.748267276	1.38E-06	Integral membrane protein	BrainSpLMD|27333	OMIM|606805
Endothelial	BET1	0.800315708	1.39E-06	Integral membrane protein	BrainSpLMD|10282	OMIM|605456
Endothelial	LRRFIP1	0.714758471	1.40E-06	Transcription regulatory protein	BrainSpLMD|9208	OMIM|603256
Endothelial	SLMO2	0.4439638	1.44E-06			
Endothelial	DUSP22	2.188691757	1.46E-06	Dual specificity phosphatase	BrainSpLMD|56940	SFARI||Autism, No category;OMIM|616778
Endothelial	IL3RA	2.186055735	1.47E-06	Cytokine receptor		OMIM|430000
Endothelial	KTN1	0.660258357	1.52E-06	Anchor protein	BrainSpLMD|3895	OMIM|600381;COSMIC||papillary thyroid
Endothelial	TXNIP	1.643531948	1.58E-06	Cell cycle control protein	BrainSpLMD|10628;Eurexp|euxassay_006657|meninges	OMIM|606599
Endothelial	TMEM230	1.020437971	1.61E-06	Integral membrane protein	BrainSpLMD|29058	OMIM|617019
Endothelial	LDLRAD3	1.177724948	1.63E-06	Unclassified	BrainSpLMD|143458;Eurexp|euxassay_011393|dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, stomach, trigeminal V, vagus X, vestibulocochlear VIII	
Endothelial	BMP2	1.693318013	1.66E-06	Ligand	BrainSpLMD|650;Eurexp|euxassay_013498|metanephros, vibrissa;BrainSpMouseDev|11942	OMIM|112261;HPO|650|2-3 toe syndactyly, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Autosomal dominant inheritance, Bracket epiphysis of the middle phalanx of the 2nd finger, Bracket epiphysis of the middle phalanx of the 5th finger, Broad hallux, Clinodactyly of the 5th finger, Downslanted palpebral fissures, Epicanthus, Global developmental delay, Hallux valgus, Hypertelorism, Hypoplasia of the maxilla, Macrocephaly, Malar flattening, Medially deviated second toe, Narrow mouth, Radial deviation of the 2nd finger, Short 2nd finger, Short foot, Short hallux, Short middle phalanx of the 5th finger, Short stature, Triangular shaped middle phalanx of the 2nd finger, Triangular shaped middle phalanx of the 5th finger, Type A2 brachydactyly, Ulnar deviation of the 2nd finger, Wolff-Parkinson-White syndrome
Endothelial	CALR	1.189701302	1.71E-06	Chaperone	BrainSpLMD|811	OMIM|109091;COSMIC||MPN, MDS;HPO|811|Abnormal platelet morphology, Abnormality of the skeletal system, Acrocyanosis, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Chest pain, Hypertension, Impaired platelet aggregation, Increased megakaryocyte count, Myelofibrosis, Myeloproliferative disorder, Myocardial infarction, Paresthesia, Prolonged bleeding time, Somatic mutation, Splenomegaly, Thrombocytosis, Transient ischemic attack, Venous thrombosis
Endothelial	PIP4K2A	0.841417005	1.73E-06	Lipid Kinase	BrainSpLMD|5305;Eurexp|euxassay_018594|basal plate, dorsal root ganglion, foregut-midgut junction, head mesenchyme, hindgut, incisor, lobe, loop, lumen, mantle layer, medullary stroma, mesenchyme, midgut, olfactory, rectum, stomach, testis, thymus primordium, ventral grey horn, vertebral axis muscle system, vomeronasal organ	OMIM|603140
Endothelial	DNAJB1	1.455148936	1.73E-06	Heat shock protein	BrainSpLMD|3337	OMIM|604572;COSMIC||fibrolamellar hepatocellular carcinoma
Endothelial	TPP1	0.39482096	1.76E-06	Serine protease	BrainSpLMD|1200;Eurexp|euxassay_002620|ventricular layer	OMIM|607998;HPO|1200|Abnormal nervous system electrophysiology, Ataxia, Autosomal recessive inheritance, Cerebral atrophy, Curvilinear intracellular accumulation of autofluorescent lipopigment storage material, Delayed speech and language development, Developmental regression, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigment, Myoclonus, Progressive visual loss, Retinal degeneration, Seizures, Undetectable electroretinogram
Endothelial	ITPR1	1.804085438	1.77E-06	Intracellular ligand gated channel	BrainSpLMD|3708;Eurexp|euxassay_006317|choroid invagination, choroid plexus, roof plate;BrainSpMouseDev|16211	SFARI||Autism, 4 - Minimal evidence;OMIM|147265;HPO|3708|Abnormality of movement, Aniridia, Ataxia, Autosomal recessive inheritance, Cerebellar hypoplasia, Global developmental delay, Hypoplasia of the iris, Intellectual disability, Mask-like facies, Motor delay, Muscular hypotonia, Nystagmus, Postural tremor, Scanning speech, Slurred speech, Visual impairment
Endothelial	PBXIP1	0.369986427	1.78E-06	Transcription regulatory protein	BrainSpLMD|57326;Eurexp|euxassay_012529|choroid invagination, choroid plexus, diaphragm, floor plate, floorplate, midgut, skeletal muscle, stomach, ventricle, ventricular layer;BrainSpMouseDev|86886	
Endothelial	HSP90AB3P	0.701672725	1.81E-06			
Endothelial	ESYT1	1.692748336	1.81E-06	Calcium binding protein	BrainSpLMD|23344;Eurexp|euxassay_011456|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, meninges, neural retina, olfactory, skeletal muscle, thoracic, thymus primordium, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vomeronasal organ	OMIM|616670
Endothelial	CPEB2	0.755284	1.81E-06	RNA binding protein	BrainSpLMD|132864	OMIM|610605
Endothelial	AC005795.1	0.377608701	1.87E-06			
Endothelial	CSNK1D	0.406547563	1.97E-06	Serine/threonine kinase	BrainSpLMD|1453;BrainSpMouseDev|68483	SFARI||Autism, 6 - Evidence does not support role;OMIM|600864;HPO|1453|Autosomal dominant inheritance
Endothelial	CD302	1.164707777	1.98E-06	Cell surface receptor		OMIM|612246
Endothelial	TSNAX	0.716215337	1.98E-06	Transport/cargo protein	BrainSpLMD|7257;Eurexp|euxassay_004475|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	OMIM|602964
Endothelial	2-Sep	0.798261018	2.00E-06			
Endothelial	ATPIF1	0.294090404	2.00E-06			
Endothelial	MYO15B	1.554669363	2.06E-06		BrainSpLMD|80022	
Endothelial	TPI1	0.683811541	2.06E-06	Enzyme: Isomerase	BrainSpLMD|7167	OMIM|190450;HPO|7167|Abnormality of immune system physiology, Autosomal recessive inheritance, Central nervous system degeneration, Cholecystitis, Cholelithiasis, Chronic hemolytic anemia, Congestive heart failure, Diaphragmatic paralysis, Dystonia, Generalized hypotonia, Global developmental delay, Hemolytic anemia, Hyporeflexia, Jaundice, Kyphosis, Muscular hypotonia, Myopathy, Normochromic anemia, Normocytic anemia, Peripheral neuropathy, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Splenomegaly, Tremor, Unsteady gait
Endothelial	TMEM189	1.546814054	2.11E-06	Ubiquitin proteasome system protein	BrainSpLMD|387521	OMIM|610994
Endothelial	NFE2L1	1.260339657	2.12E-06	Transcription factor	BrainSpLMD|4779;BrainSpMouseDev|17790	OMIM|163260
Endothelial	OST4	0.362608723	2.16E-06	-	Eurexp|euxassay_002153|Meckel's cartilage, orbito-sphenoid	
Endothelial	ANXA11	1.840569517	2.17E-06	Calcium binding protein	BrainSpLMD|311;Eurexp|euxassay_018010|calyces, foregut-midgut junction, hindgut, loop, midgut, oesophagus, olfactory, rectum, testis;BrainSpMouseDev|11531	OMIM|602572
Endothelial	CDK11B	1.026848584	2.21E-06	Cell cycle control protein		OMIM|176873
Endothelial	PLAUR	1.109970657	2.23E-06	Cell surface receptor	BrainSpLMD|5329	SFARI||Autism, No category;OMIM|173391
Endothelial	MEF2A	0.56409323	2.27E-06	Transcription regulatory protein	BrainSpLMD|4205;BrainSpMouseDev|17027	OMIM|600660
Endothelial	TLE1	1.109791033	2.29E-06	Transcription regulatory protein	BrainSpLMD|7088;Eurexp|euxassay_017921|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, pituitary, stroma, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|21644	OMIM|600189
Endothelial	UBBP4	0.270768829	2.38E-06			
Endothelial	USP12.AS1	0.690125584	2.41E-06			
Endothelial	CHP1	0.752187402	2.43E-06		BrainSpLMD|11261	OMIM|606988
Endothelial	CYP27A1	0.290106026	2.46E-06	Enzyme: Oxidoreductase	BrainSpLMD|1593	OMIM|606530;HPO|1593|Abnormal pyramidal signs, Abnormality of central somatosensory evoked potentials, Abnormality of cholesterol metabolism, Abnormality of extrapyramidal motor function, Abnormality of the dentate nucleus, Abnormality of the periventricular white matter, Abnormality of vision, Angina pectoris, Ataxia, Autosomal recessive inheritance, Cataract, Cerebellar atrophy, Cerebral atrophy, Cholelithiasis, Delusions, Dementia, Depressivity, Developmental regression, Diarrhea, Dystonia, EEG with generalized slow activity, EMG: axonal abnormality, Hallucinations, Hypercholesterolemia, Hyperreflexia, Intellectual disability, Muscle weakness, Myocardial infarction, Myoclonus, Neurological speech impairment, Optic disc pallor, Osteoporosis, Peripheral neuropathy, Pseudobulbar paralysis, Respiratory insufficiency, Seizures, Spasticity, Tendon xanthomatosis, Tremor, Xanthelasma
Endothelial	DIAPH2	0.597047571	2.48E-06	Ligand	BrainSpLMD|1730	OMIM|300108;HPO|1730|Premature ovarian insufficiency, Secondary amenorrhea, X-linked dominant inheritance
Endothelial	CDK17	0.76880757	2.51E-06	Serine/threonine kinase	BrainSpLMD|5128	OMIM|603440
Endothelial	ELOVL1	1.256667066	2.56E-06	Unclassified	BrainSpLMD|64834	OMIM|611813
Endothelial	ST8SIA4	0.716817031	2.56E-06	Enzyme: Sialyltransferase	BrainSpLMD|7903;Eurexp|euxassay_007776|brain, dorsal root ganglion, left lung, mesenchyme, neural retina, olfactory, organ system, right lung, spinal cord, trigeminal V	OMIM|602547
Endothelial	SDCBP2.AS1	1.2349798	2.56E-06			
Endothelial	DDIT3	1.415176929	2.60E-06	Transcription factor	BrainSpLMD|1649;Eurexp|euxassay_009824|olfactory;BrainSpMouseDev|12978	OMIM|126337;COSMIC||liposarcoma;HPO|1649|Myxoid liposarcoma, Somatic mutation, Subcutaneous nodule
Endothelial	IFRD1	1.440189697	2.63E-06	Regulatory/other subunit	BrainSpLMD|3475;Eurexp|euxassay_003205|axial muscle, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, molar, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|603502
Endothelial	TRIM25	1.075372916	2.66E-06	Transcription factor	BrainSpLMD|7706	OMIM|600453
Endothelial	INTS6	0.476409999	2.68E-06	RNA binding protein	BrainSpLMD|26512	SFARI||Autism, 2 - Strong candidate;OMIM|604331
Endothelial	FDPS	0.778174997	2.70E-06	Enzyme: Prenyltransferase	BrainSpLMD|2224;Eurexp|euxassay_005185|adenohypophysis, adrenal gland, axial skeleton, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, limb, liver, lung, mandible, maxilla, mesenchyme, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, paraxial mesenchyme, rectum, retina, skeletal muscle, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|134629;HPO|2224|Cutaneous photosensitivity, Porokeratosis
Endothelial	RP11.264I13.2	1.677790485	2.75E-06			
Endothelial	AC098614.2	0.278371025	2.75E-06			
Endothelial	ST6GAL1	1.840344426	2.76E-06	Enzyme: Sialyltransferase	BrainSpLMD|6480	OMIM|109675
Endothelial	RPL31P47	1.326551555	2.77E-06			
Endothelial	NUMB	0.723927307	2.78E-06	Unclassified	BrainSpLMD|8650;Eurexp|euxassay_012553|ventricle;BrainSpMouseDev|17989	OMIM|603728
Endothelial	CD200	0.749930644	2.78E-06	Cell surface receptor;Unclassified	BrainSpLMD|4345;Eurexp|euxassay_010522|anterior, aorta, basisphenoid bone, brain, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, mandible, maxilla, neural retina, orbito-sphenoid, radius, rib, scapula, spinal cord, thoracic, tibia, trigeminal V, turbinate bones, ulna, vagus X, vestibulocochlear VIII, vibrissa	OMIM|155970
Endothelial	FTL	1.040030908	2.89E-06	Storage protein	BrainSpLMD|2512	OMIM|134790;HPO|2512|Abnormality of metabolism/homeostasis, Anarthria, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Blepharospasm, Bradykinesia, Cataract, Cavitation of the basal ganglia, Chorea, Choreoathetosis, Congenital nuclear cataract, Decreased serum ferritin, Dementia, Disinhibition, Dysarthria, Dysphagia, Dysphonia, Dystonia, Emotional lability, Gait disturbance, Hyperreflexia, Hypomimic face, Increased serum ferritin, Laryngeal dystonia, Mutism, Neurodegeneration, Optic atrophy, Orofacial dyskinesia, Parkinsonism, Phenotypic variability, Progressive, Retinal degeneration, Rigidity, Spastic diplegia, Spasticity, Tremor, Writer's cramp
Endothelial	MEPCE	2.367038184	2.89E-06	Unclassified	BrainSpLMD|56257	OMIM|611478
Endothelial	SLC1A4	1.343746659	2.91E-06	Transport/cargo protein	BrainSpLMD|6509;Eurexp|euxassay_019712|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, lung, olfactory, spinal cord, thymus primordium, trigeminal V, vomeronasal organ;BrainSpMouseDev|35249	OMIM|600229;HPO|6509|Autosomal recessive inheritance, Babinski sign, Cerebral atrophy, Congenital onset, Generalized hypotonia, Global developmental delay, Hyperactivity, Hyperreflexia, Hypoplasia of the corpus callosum, Inability to walk, Intellectual disability, Irritability, Progressive microcephaly, Spastic tetraplegia
Endothelial	CD164	1.073866934	2.93E-06	Adhesion molecule	Eurexp|euxassay_019262|epithelium, incisor, lung, molar, nucleus pulposus, olfactory, orbito-sphenoid, pancreas, pituitary, skeletal muscle, thymus primordium, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|32917	OMIM|603356;HPO|8763|Autosomal dominant inheritance, Sensorineural hearing impairment, Variable expressivity
Endothelial	SLK	1.270616918	2.93E-06	Serine/threonine kinase	BrainSpLMD|9748;Eurexp|euxassay_012162|facial VII, midgut, molar, oesophagus, oral epithelium, rectum, stomach, thymus primordium, thyroid	OMIM|616563
Endothelial	NDUFA12	0.660840071	2.97E-06	Enzyme: Oxidoreductase	BrainSpLMD|55967;Eurexp|euxassay_005963|embryo	OMIM|614530;HPO|55967|Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
Endothelial	GYG1	1.234048566	3.00E-06	Unclassified	BrainSpLMD|2992;Eurexp|euxassay_006069|atrium, left lung, right lung, ventricle	OMIM|603942;HPO|2992|Autosomal recessive inheritance, Limb-girdle muscle weakness, Muscle weakness, Right bundle branch block, Skeletal muscle atrophy, Slow progression, Variable expressivity, Ventricular arrhythmia
Endothelial	ULBP2	1.550550988	3.02E-06	MHC complex protein	BrainSpLMD|80328	OMIM|605698
Endothelial	RP11.314N13.3	1.621733166	3.03E-06			
Endothelial	TCF7L1	0.591104778	3.06E-06	Transcription regulatory protein	BrainSpLMD|83439;BrainSpMouseDev|21176	OMIM|604652
Endothelial	SEC24A	0.351081565	3.06E-06	Transport/cargo protein	BrainSpLMD|10802	OMIM|607183
Endothelial	HSPH1	1.115008259	3.10E-06	Heat shock protein;Chaperone	BrainSpLMD|10808	OMIM|610703
Endothelial	RSU1	0.8826317	3.16E-06	Unclassified	BrainSpLMD|6251	OMIM|179555
Endothelial	FILIP1	2.478246173	3.17E-06	Unclassified	BrainSpLMD|27145;Eurexp|euxassay_011444|adrenal gland, wall	OMIM|607307
Endothelial	PDIA3P1	0.440434558	3.18E-06			
Endothelial	ACTR3	0.796708543	3.18E-06	Cytoskeletal protein	BrainSpLMD|10096	OMIM|604222
Endothelial	OPA3	0.631042836	3.29E-06	Unclassified	BrainSpLMD|80207	OMIM|606580;HPO|80207|3-Methylglutaconic aciduria, Abnormality of extrapyramidal motor function, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Cataract, Central scotoma, Cerebellar atrophy, Chorea, Choreoathetosis, Cognitive impairment, Dysarthria, Hyperreflexia, Intellectual disability, Muscle cramps, Nystagmus, Optic atrophy, Pain, Paresthesia, Posterior cortical cataract, Postural tremor, Reduced visual acuity, Spastic paraparesis, Spasticity, Tremor, Unsteady gait, Visual impairment
Endothelial	MYLK	1.139240667	3.33E-06	Serine/threonine kinase	BrainSpLMD|4638;BrainSpMouseDev|71754	OMIM|600922;HPO|4638|Abnormality of the iris, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Ascending aortic dissection, Autosomal dominant inheritance, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Exertional dyspnea, Hypertension, Left ventricular failure, Paroxysmal dyspnea
Endothelial	TSHZ1	0.314163258	3.35E-06	Transcription regulatory protein	BrainSpLMD|10194;Eurexp|euxassay_010168|interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, mesenchyme, midgut, olfactory, penis, pharyngo-tympanic tube, stomach;BrainSpMouseDev|74951	OMIM|614427;HPO|10194|Atresia of the external auditory canal, Autosomal dominant inheritance, Conductive hearing impairment, Hyposmia
Endothelial	IER5	0.552969733	3.36E-06	Transcription regulatory protein	BrainSpLMD|51278	OMIM|607177
Endothelial	ATP5E	0.466747883	3.40E-06			
Endothelial	NECAP2	1.199930696	3.47E-06	Unclassified	BrainSpLMD|55707	OMIM|611624
Endothelial	ORMDL2	1.192609952	3.52E-06	Integral membrane protein	BrainSpLMD|29095	OMIM|610074
Endothelial	NPIPB5	1.654279437	3.80E-06			
Endothelial	RP11.386I14.4	1.38185782	3.83E-06			
Endothelial	CLIC4	1.042301386	3.89E-06	Intracellular ligand gated channel	BrainSpLMD|25932	OMIM|606536
Endothelial	WDR26	1.024999758	3.90E-06	Unclassified	BrainSpLMD|80232	SFARI||Autism, No category;OMIM|617424
Endothelial	SLC20A2	1.332783171	3.97E-06	Membrane transport protein	BrainSpLMD|6575	OMIM|158378;HPO|6575|Abnormality of neuronal migration, Adult onset, Athetosis, Autosomal dominant inheritance, Basal ganglia calcification, Bradykinesia, Calcification of the small brain vessels, Cerebral calcification, Chorea, Corneal opacity, Dense calcifications in the cerebellar dentate nucleus, Depressivity, Dysarthria, Dysdiadochokinesis, Dystonia, Gait disturbance, Hepatomegaly, Hyperreflexia, Intrauterine growth retardation, Limb dysmetria, Mask-like facies, Memory impairment, Mental deterioration, Microcephaly, Parkinsonism, Postural instability, Progressive, Psychosis, Rigidity, Seizures, Subcutaneous hemorrhage, Thrombocytopenia, Tremor, Urinary incontinence, Ventriculomegaly
Endothelial	SHISA5	1.70678684	4.02E-06	Integral membrane protein	BrainSpLMD|51246	OMIM|607290
Endothelial	LIMK2	0.951471875	4.03E-06	Serine/threonine kinase	BrainSpLMD|3985;Eurexp|euxassay_005391|dorsal root ganglion, epidermis, epithelium, glossopharyngeal IX, incisor, molar, naris, olfactory, oral cavity, oral epithelium, respiratory, stomach, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|601988
Endothelial	RP11.231C14.4	0.896844092	4.11E-06			
Endothelial	ACTR2	0.5539294	4.20E-06	Cytoskeletal protein	BrainSpLMD|10097	OMIM|604221
Endothelial	LDB2	1.324805859	4.21E-06	Transcription regulatory protein	BrainSpLMD|9079;BrainSpMouseDev|16597	OMIM|603450
Endothelial	HIPK3	0.792693348	4.26E-06	Serine/threonine kinase	BrainSpLMD|10114;Eurexp|euxassay_009195|atrium, diaphragm, footplate, handplate, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, ventricle, vertebral axis muscle system	OMIM|604424
Endothelial	DDX5	0.52369981	4.30E-06	RNA binding protein	BrainSpLMD|1655;BrainSpMouseDev|12987	OMIM|180630;COSMIC||prostate
Endothelial	PDCD10	0.872299888	4.30E-06	Unclassified	BrainSpLMD|11235	OMIM|609118;HPO|11235|Abnormality of the cerebrum, Cerebral hemorrhage, Focal T2 hyperintense brainstem lesion, Focal T2 hypointense brainstem lesion, Headache, Increased intracranial pressure, Meningioma, Neuroma, Paralysis, Scoliosis, Seizures
Endothelial	C1GALT1C1	1.328966353	4.38E-06	Chaperone	BrainSpLMD|29071	OMIM|300611;HPO|29071|Abnormality of erythrocytes, Autoimmunity
Endothelial	TMEM107	2.007946497	4.39E-06	Unclassified	BrainSpLMD|84314;Eurexp|euxassay_005337|choroid plexus, lateral recess, olfactory, pharynx, respiratory	OMIM|616183;HPO|84314|Aplasia/Hypoplasia of the iris, Cataract, Chorioretinal abnormality, Cleft palate, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Encephalocele, Full cheeks, Hypertelorism, Lobar holoprosencephaly, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Oligohydramnios, Optic atrophy, Postaxial foot polydactyly, Postaxial hand polydactyly, Sclerocornea, Sloping forehead, Talipes
Endothelial	CMTM3	0.900043904	4.49E-06	Chemokine	BrainSpLMD|123920	OMIM|607886
Endothelial	EGR1	0.477558521	4.53E-06	Transcription factor	BrainSpLMD|1958;Eurexp|euxassay_008911|mesenchyme;BrainSpMouseDev|13431	OMIM|128990
Endothelial	SAMM50	1.20339396	4.57E-06	Unclassified	BrainSpLMD|25813	OMIM|612058
Endothelial	3-Mar	0.782519814	4.61E-06			
Endothelial	SAMD12	2.168715724	4.67E-06	DNA binding protein	BrainSpLMD|401474	
Endothelial	NXF1	0.501235266	4.78E-06	RNA binding protein	BrainSpLMD|10482	OMIM|602647
Endothelial	IFIT1	4.321806638	4.84E-06	DNA binding protein;RNA binding protein	BrainSpLMD|3434	OMIM|147690
Endothelial	PTAR1	0.396899333	5.13E-06	Unclassified		
Endothelial	AFMID	1.180996588	5.18E-06	Unclassified		
Endothelial	NLRC3	0.872731751	5.23E-06	Unclassified	BrainSpLMD|197358	OMIM|615648
Endothelial	SHC2	0.755477119	5.29E-06	Adapter molecule	Eurexp|euxassay_012092|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, humerus, lung, mantle layer, neural retina, orbito-sphenoid, pelvic girdle, rib, scapula, temporal bone, tibia, trigeminal V, turbinate, vagus X, vault of skull, ventral grey horn, vestibulocochlear VIII	OMIM|605217
Endothelial	C2CD2	2.767795647	5.33E-06	Unclassified	BrainSpLMD|25966	OMIM|617581
Endothelial	MTRNR2L8	1.155012526	5.40E-06			
Endothelial	VAT1	1.039024628	5.42E-06	Transport/cargo protein	BrainSpLMD|10493;BrainSpMouseDev|26694	OMIM|604631
Endothelial	PPIB	1.015927602	5.51E-06	Chaperone	BrainSpLMD|5479;Eurexp|euxassay_000530|basioccipital bone, basisphenoid bone, cranium, nucleus pulposus, orbito-sphenoid, otic capsule, rib, sphenoid	OMIM|123841;HPO|5479|Autosomal recessive inheritance, Blue sclerae, Bowing of limbs due to multiple fractures, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Kyphosis, Multiple prenatal fractures, Pectus carinatum, Pectus excavatum, Recurrent fractures, Scoliosis, Wormian bones
Endothelial	RP11.347C12.1	0.534020145	5.58E-06			
Endothelial	CNN3	0.346760048	5.75E-06	Cytoskeletal associated protein	BrainSpLMD|1266;Eurexp|euxassay_009765|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|602374
Endothelial	COLEC12	1.842352699	5.77E-06	Cell surface receptor	BrainSpLMD|81035;Eurexp|euxassay_010114|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, left lung, meninges, mesenchyme, mesentery, mesothelium, midgut, naris, oesophagus, orbito-sphenoid, otic capsule, pelvic girdle, peritoneal cavity, petrous part, rib, right lung, scapula, sternum, stomach, tibia, trachea, turbinate bones, vault of skull	OMIM|607621
Endothelial	CTSB	0.553733509	5.83E-06	Cysteine protease	BrainSpLMD|1508	OMIM|116810;HPO|1508|Erythema
Endothelial	SNHG3	1.186318259	5.88E-06			OMIM|603238
Endothelial	ETV6	1.461685252	5.89E-06	Transcription factor	BrainSpLMD|2120;Eurexp|euxassay_012303|incisor, molar, olfactory, parotid, submandibular gland primordium, thymus primordium, thyroid;BrainSpMouseDev|13788	OMIM|600618;COSMIC||congenital fibrosarcoma, multiple different leukaemia and lymphoma tumour types including ALL, secretory breast, MDS;HPO|2120|Autosomal dominant inheritance, Bruising susceptibility, Epistaxis, Petechiae, Thrombocytopenia
Endothelial	TMSB4XP8	0.491079751	5.91E-06	Cytoskeletal associated protein		
Endothelial	FRY	1.502341143	5.91E-06	Unclassified	BrainSpLMD|10129;Eurexp|euxassay_016041|axial skeleton, cervical, cervico-thoracic, clavicle, cricoid, dorsal root ganglion, exoccipital bone, facial VII, fibula, glossopharyngeal IX, mantle layer, metatarsus, nasal septum, neural retina, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, rest of mesenchyme, rib, sternum, temporal bone, thoracic, thyroid, tibia, trigeminal V, turbinate, vagus X, vestibulocochlear VIII, vibrissa	OMIM|614818
Endothelial	RP13.735L24.1	2.432833383	6.07E-06			
Endothelial	LDLR	0.801627235	6.09E-06	Cell surface receptor	BrainSpLMD|3949;Eurexp|euxassay_010458|adrenal gland, cervical, cervico-thoracic, clavicle, hindgut, incisor, mandible, maxilla, metanephros, midgut, orbito-sphenoid, otic capsule, rib, submandibular gland primordium, thoracic, turbinate, ventral grey horn	OMIM|606945;HPO|3949|Abnormality of internal carotid artery, Angina pectoris, Aortic atherosclerosis, Autosomal dominant inheritance, Cerebral artery atherosclerosis, Corneal arcus, Coronary atherosclerosis, Dyspnea, Heart murmur, Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia, Hypertension, Increased circulating low-density lipoprotein levels, Left ventricular failure, Myocardial infarction, Myocardial steatosis, Peripheral arterial stenosis, Precocious atherosclerosis, Premature arteriosclerosis, Premature coronary artery disease, Renal artery stenosis, Sudden cardiac death, Xanthelasma
Endothelial	C5orf24	0.653543822	6.10E-06	Unclassified	BrainSpLMD|134553	
Endothelial	C19orf66	1.552835925	6.14E-06	Unclassified	BrainSpLMD|55337	OMIM|616808
Endothelial	TSPAN6	0.904034785	6.18E-06	Cell surface receptor	BrainSpLMD|7105;Eurexp|euxassay_004870|incisor, mandible, maxilla, molar	OMIM|300191
Endothelial	MYO6	1.194172045	6.25E-06	Motor protein	BrainSpLMD|4646	OMIM|600970;HPO|4646|Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment
Endothelial	NOX4	2.498899606	6.26E-06	Enzyme: Oxidase	BrainSpLMD|50507	OMIM|605261
Endothelial	COX14	0.848742147	6.42E-06	Integral membrane protein	BrainSpLMD|84987	OMIM|614478;HPO|84987|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
Endothelial	ZNF600	0.780355005	6.56E-06	Transcription factor	BrainSpLMD|162966	
Endothelial	ERN1	0.935469142	6.58E-06	Serine/threonine kinase	BrainSpLMD|2081;Eurexp|euxassay_011765|medulla, pancreas	OMIM|604033
Endothelial	ROMO1	0.73099942	6.60E-06	Unclassified		
Endothelial	EGLN1	0.93858692	6.61E-06	Ubiquitin proteasome system protein	BrainSpLMD|54583	OMIM|606425;HPO|54583|Autosomal dominant inheritance, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass
Endothelial	PTPRG.AS1	1.731452717	6.68E-06			
Endothelial	KCNC4	1.169505078	6.75E-06	Voltage gated channel	BrainSpLMD|3749;Eurexp|euxassay_004363|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, vagus X, ventral grey horn	OMIM|176265
Endothelial	SNHG5	0.70044	6.81E-06			OMIM|613263
Endothelial	AL353644.10	1.167781893	6.92E-06			
Endothelial	TMEM248	0.796227233	7.26E-06	Unclassified	BrainSpLMD|55069;Eurexp|euxassay_012566|ventricle	
Endothelial	PEA15	0.550735301	7.35E-06	Transport/cargo protein	BrainSpLMD|8682;Eurexp|euxassay_011580|neural retina, ventral grey horn, ventricular layer	OMIM|603434
Endothelial	LRP5	0.836346106	7.37E-06	Integral membrane protein	BrainSpLMD|4041;BrainSpMouseDev|16743	OMIM|603506;HPO|4041|Abdominal distention, Abnormal cortical bone morphology, Abnormal form of the vertebral bodies, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the ribs, Abnormality of the vertebral column, Absent anterior eye chamber, Autosomal dominant inheritance, Autosomal recessive inheritance, Barrel-shaped chest, Blindness, Bone pain, Brachycephaly, Broad forehead, Broad jaw, Cataract, Clavicular sclerosis, Conductive hearing impairment, Cranial hyperostosis, Craniofacial hyperostosis, Craniosynostosis, Dental malocclusion, Diaphyseal thickening, Exudative vitreoretinopathy, Facial palsy, Falciform retinal fold, Flat forehead, Gait disturbance, Generalized hypotonia, Generalized osteosclerosis, Glioma, Growth abnormality, Headache, Hepatomegaly, Heterogeneous, High forehead, Horizontal pendular nystagmus, Hypertelorism, Increased bone mineral density, Increased susceptibility to fractures, Infantile onset, Intellectual disability, mild, Iris atrophy, Joint hypermobility, Kyphoscoliosis, Macrocephaly, Mandibular prognathia, Metacarpal diaphyseal endosteal sclerosis, Metaphyseal widening, Metatarsal diaphyseal endosteal sclerosis, Microcephaly, Microphthalmia, Multiple renal cysts, Osteopenia, Osteopetrosis, Osteoporosis, Pathologic fracture, Peripheral retinal avascularization, Phthisis bulbi, Pigmentary retinal degeneration, Platyspondyly, Polycystic liver disease, Posterior vitreous detachment, Premature birth, Recurrent fractures, Reduced visual acuity, Retinal detachment, Retinal exudate, Retinal neovascularization, Sensorineural hearing impairment, Short stature, Slow progression, Small for gestational age, Subcapsular cataract, Thickened calvaria, Thickened cortex of long bones, Torus palatinus, Tractional retinal detachment, Ventricular septal defect, Vertebral body sclerosis, Vertebral compression fractures, Vitreoretinopathy, Vitreous hemorrhage
Endothelial	C4orf3	0.956654298	7.62E-06	Integral membrane protein	BrainSpLMD|401152	
Endothelial	MCFD2	0.661736837	7.66E-06	Unclassified	BrainSpLMD|90411;Eurexp|euxassay_000692|Meckel's cartilage, chondrocranium, incisor, molar	OMIM|607788;HPO|90411|Autosomal recessive inheritance, Epistaxis, Menorrhagia, Persistent bleeding after trauma, Reduced factor V activity, Reduced factor VIII activity
Endothelial	APP	0.494637861	7.67E-06	Cell surface receptor	BrainSpLMD|351;BrainSpMouseDev|11607	SFARI||Autism, No category;OMIM|104760;HPO|351|Alzheimer disease, Autosomal dominant inheritance, Behavioral abnormality, Cerebellar hemorrhage, Cerebral amyloid angiopathy, Cerebral calcification, Cerebral hemorrhage, Cerebral ischemia, Coma, Dementia, Dysphagia, Febrile seizures, Gait disturbance, Global developmental delay, Headache, Heterogeneous, Intellectual disability, Long-tract signs, Memory impairment, Migraine, Myoclonus, Neurofibrillary tangles, Paresthesia, Parkinsonism, Recurrent cerebral hemorrhage, Seizures, Sensory impairment, Stroke, Tortuous cerebral arteries
Endothelial	MRPL33	0.527997263	7.90E-06	Ribosomal subunit	BrainSpLMD|9553	OMIM|610059
Endothelial	FLOT2	1.45963446	7.97E-06	Adhesion molecule	BrainSpLMD|2319	OMIM|131560
Endothelial	LINC01420	0.890697376	8.11E-06			
Endothelial	RPL23A	0.495020101	8.13E-06	RNA binding protein		OMIM|602326
Endothelial	IMP3	1.033557372	8.16E-06	RNA binding protein	BrainSpLMD|55272	OMIM|612980
Endothelial	PML	1.404054146	8.23E-06	Transcription regulatory protein	BrainSpLMD|5371;BrainSpMouseDev|18617	OMIM|102578;COSMIC||APL, ALL
Endothelial	CD151	0.358079311	8.28E-06	Cell surface receptor	BrainSpLMD|977	OMIM|602243;HPO|977|Autosomal recessive inheritance, Lacrimal duct stenosis, Nail dystrophy, Nephritis, Nephropathy, Pretibial blistering, Reduced beta/alpha synthesis ratio, Sensorineural hearing impairment, Stage 5 chronic kidney disease
Endothelial	GLTP	0.259732542	8.28E-06	Transport/cargo protein	BrainSpLMD|51228;Eurexp|euxassay_005240|anterior, external, thymus primordium	OMIM|608949
Endothelial	KDELR1	0.933201189	8.29E-06	Unclassified	BrainSpLMD|10945	OMIM|131235
Endothelial	STAT5B	1.424502974	8.37E-06	Transcription factor	BrainSpLMD|6777;Eurexp|euxassay_019576|liver, mantle layer, thymus primordium;BrainSpMouseDev|20613	OMIM|604260;COSMIC||large granular lymphocytic leukaemia, skin basal cell, APL, IPEX-like syndrome;HPO|6777|Growth hormone deficiency, Respiratory distress, Severe short stature
Endothelial	LIFR	1.167249963	8.46E-06	Cytokine receptor	BrainSpLMD|3977;Eurexp|euxassay_010649|axial muscle, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, orbito-sphenoid, thymus primordium, thyroid, tongue, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16651	OMIM|151443;COSMIC||salivary adenoma;HPO|3977|Abnormal metaphyseal trabeculation, Abnormality of dental enamel, Abnormality of vision, Absent patellar reflexes, Adducted thumb, Apnea, Asthma, Autosomal recessive inheritance, Blotching pigmentation of the skin, Broad ischia, Camptodactyly of finger, Contracture of the proximal interphalangeal joint of the 5th finger, Dysautonomia, Dysphagia, Elbow flexion contracture, Enlarged joints, Episodic fever, Feeding difficulties, Feeding difficulties in infancy, Femoral bowing, Flared metaphysis, Flexion contracture of toe, Frontal bossing, Generalized hypotonia, Genu valgum, Hoarse voice, Hyperhidrosis, Hypohidrosis, Hypoplastic iliac body, Impaired pain sensation, Intrauterine growth retardation, Knee flexion contracture, Lacrimation abnormality, Low-set ears, Malar flattening, Metaphyseal rarefaction, Metaphyseal widening, Micrognathia, Micromelia, Midface retrusion, Myotonia, Nasal speech, Oligohydramnios, Opacification of the corneal stroma, Osteopenia, Osteoporosis, Paresthesia, Pathologic fracture, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Pursed lips, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Short neck, Short nose, Short palpebral fissure, Short phalanx of finger, Short stature, Short tibia, Single transverse palmar crease, Skeletal dysplasia, Smooth tongue, Square face, Talipes, Talipes equinovarus, Talipes valgus, Thickened cortex of long bones, Thin ribs, Thin skin, Tibial bowing, Trismus, Ulnar deviation of finger, Wide nasal base
Endothelial	LYSMD3	1.045685838	8.55E-06	Unclassified	BrainSpLMD|116068	
Endothelial	ARAP2	0.941125493	8.64E-06	GTPase activating protein	BrainSpLMD|116984	OMIM|606645
Endothelial	MAGI2.AS3	1.031112637	8.81E-06			
Endothelial	SUCLG2	1.811013316	9.13E-06	Enzyme: Ligase	BrainSpLMD|8801;Eurexp|euxassay_018982|hindgut, incisor, liver, lung, mandible, mantle layer, maxilla, metanephros, midgut, molar, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, pituitary, stomach, submandibular gland primordium, thymus primordium, thyroid, urethra, ventricular layer, vertebral axis muscle system, vibrissa	SFARI||Autism, 6 - Evidence does not support role;OMIM|603922
Endothelial	ATG3	0.915836385	9.14E-06	Unclassified	BrainSpLMD|64422	OMIM|609606
Endothelial	PSME2	0.919142416	9.48E-06	Ubiquitin proteasome system protein	BrainSpLMD|5721;Eurexp|euxassay_007332|thymus primordium	OMIM|602161
Endothelial	LIPA	1.563992909	9.78E-06	Enzyme: Lipase	BrainSpLMD|3988	OMIM|613497;HPO|3988|Abdominal distention, Adrenal calcification, Anemia, Arteriosclerosis, Ascites, Autosomal recessive inheritance, Bone-marrow foam cells, Cachexia, Cirrhosis, Death in infancy, Diarrhea, Esophageal varix, Failure to thrive, Global developmental delay, Growth delay, Hepatic failure, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Malnutrition, Nausea and vomiting, Protuberant abdomen, Pulmonary arterial hypertension, Splenomegaly, Steatorrhea, Vacuolated lymphocytes, Vomiting
Endothelial	PFDN5	0.562043264	9.80E-06	Chaperone	BrainSpLMD|5204	OMIM|604899
Endothelial	ANTXR2	1.434710024	9.81E-06	Cytoskeletal associated protein	BrainSpLMD|118429	OMIM|608041;HPO|118429|Abnormal diaphysis morphology, Abnormality of dental morphology, Abnormality of the adrenal glands, Abnormality of the hair, Abnormality of the skull, Aplasia/Hypoplasia of the skin, Aplasia/Hypoplasia of the thymus, Autosomal recessive inheritance, Brachydactyly, Camptodactyly of finger, Chronic diarrhea, Coarse facial features, Death in infancy, Diarrhea, Failure to thrive, Feeding difficulties, Gingival fibromatosis, Gingival overgrowth, Hyperpigmentation of the skin, Immunodeficiency, Joint stiffness, Lymphedema, Macrocephaly, Micromelia, Muscular hypotonia, Osteolysis, Osteomalacia, Osteopenia, Osteoporosis, Papule, Polycystic ovaries, Progressive, Progressive flexion contractures, Recurrent bacterial infections, Recurrent fractures, Recurrent infections, Severe short stature, Short neck, Short palm, Skin ulcer, Steatorrhea, Subcutaneous nodule, Telangiectasia of the skin, Thickened skin, Urticaria, Variable expressivity
Endothelial	WLS	1.668229919	9.83E-06	Integral membrane protein	BrainSpLMD|79971	OMIM|611514
Endothelial	GDPD5	2.399757812	1.01E-05	Unclassified	BrainSpLMD|81544;Eurexp|euxassay_005984|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|609632
Endothelial	GNG5P2	0.286840901	1.05E-05			
Endothelial	SLC24A1	1.831327235	1.06E-05	Ion channel	BrainSpLMD|9187	OMIM|603617;HPO|9187|Abnormality of macular pigmentation, Autosomal recessive inheritance, Congenital stationary night blindness, Nyctalopia, Optic disc hypoplasia, Reduced visual acuity, Severe Myopia
Endothelial	TSPYL2	0.650384606	1.06E-05	Cell cycle control protein	BrainSpLMD|64061;Eurexp|euxassay_004126|brain, dorsal root ganglion, spinal cord	OMIM|300564
Endothelial	OGFRL1	0.977615394	1.06E-05	Unclassified	BrainSpLMD|79627;Eurexp|euxassay_010875|dorsal root ganglion, mantle layer, trigeminal V	
Endothelial	TMEM219	1.020289738	1.08E-05	Unclassified	BrainSpLMD|124446	
Endothelial	CTTNBP2NL	0.603232714	1.08E-05	Unclassified	BrainSpLMD|55917;Eurexp|euxassay_003204|axial muscle, bladder, calyces, hindgut, lobe, midgut, oral epithelium, orbito-sphenoid, rectum, stomach, submandibular gland primordium, urethra, vibrissa	OMIM|615100
Endothelial	ZYX	0.391123241	1.09E-05	Adhesion molecule	BrainSpLMD|7791;Eurexp|euxassay_010280|lobe, mesenchyme, skeletal muscle, vertebral axis muscle system	OMIM|602002
Endothelial	FMNL3	1.207536272	1.11E-05	Unclassified	BrainSpLMD|91010	OMIM|616288
Endothelial	MSRB1	0.82146692	1.12E-05	Unclassified	BrainSpLMD|51734	OMIM|606216
Endothelial	SLC25A44	0.559454358	1.13E-05	Transport/cargo protein	BrainSpLMD|9673	OMIM|610824
Endothelial	ZNF217	1.335770489	1.14E-05	Transcription factor	BrainSpLMD|7764	OMIM|602967
Endothelial	WDFY1	1.538858382	1.16E-05	Unclassified	BrainSpLMD|57590	
Endothelial	DDIT4	0.947276602	1.18E-05	Unclassified	BrainSpLMD|54541	OMIM|607729
Endothelial	TXNDC12	0.96091814	1.19E-05	Enzyme: Reductase	BrainSpLMD|51060	OMIM|609448
Endothelial	LAP3	1.318860738	1.19E-05	Aminopeptidase	BrainSpLMD|51056;Eurexp|euxassay_002166|ventricular layer	OMIM|170250
Endothelial	PTPRK	0.725400786	1.20E-05	Receptor tyrosine phosphatase	BrainSpLMD|5796;Eurexp|euxassay_009627|mantle layer, marginal layer, midgut, stomach, ventral grey horn, vibrissa;BrainSpMouseDev|19035	OMIM|602545;COSMIC||colorectal
Endothelial	ZNRD1	0.542373927	1.22E-05	Transcription factor	BrainSpLMD|30834	OMIM|607525
Endothelial	EGLN3	0.929759261	1.22E-05	Ubiquitin proteasome system protein	BrainSpLMD|112399	OMIM|606426
Endothelial	CASP3	0.50697832	1.23E-05	Cysteine protease	BrainSpLMD|836;Eurexp|euxassay_018739|mantle layer, olfactory, vomeronasal organ;BrainSpMouseDev|12152	OMIM|600636
Endothelial	CDC45	0.398656132	1.24E-05	Cell cycle control protein	BrainSpLMD|8318;Eurexp|euxassay_006791|choroid plexus, marginal layer, ventricular layer	OMIM|603465;HPO|8318|2-3 toe syndactyly, Abnormality of epiphysis morphology, Abnormality of the ribs, Anal atresia, Anal stenosis, Anotia, Aplasia/Hypoplasia of the patella, Aplastic clavicles, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Atrial septal defect, Autosomal recessive inheritance, Bowing of the legs, Camptodactyly of finger, Choanal atresia, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Clubbing, Complete atrioventricular canal defect, Craniosynostosis, Cryptorchidism, Decreased body weight, Delayed skeletal maturation, Duodenal stenosis, Failure to thrive, Feeding difficulties, Global developmental delay, Hearing impairment, High palate, High, narrow palate, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypospadias, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Micropenis, Microtia, Microtia, third degree, Myopia, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Preaxial polydactyly, Progressive microcephaly, Proptosis, Pulmonary hypoplasia, Respiratory distress, Respiratory failure, Retrognathia, Sagittal craniosynostosis, Scoliosis, Severe short stature, Short stature, Slender long bone, Strabismus, Thin eyebrow, Urethral stricture, Ventricular septal defect, Vesicoureteral reflux, Wide anterior fontanel
Endothelial	ARHGEF12	1.098112157	1.27E-05	Guanine nucleotide exchange factor	BrainSpLMD|23365	OMIM|604763;COSMIC||AML
Endothelial	MTMR9LP	1.946836417	1.27E-05		BrainSpLMD|339483	
Endothelial	CTB.119C2.1	0.6233491	1.28E-05			
Endothelial	AC008740.1	0.916453305	1.28E-05			
Endothelial	RNF125	0.642744527	1.28E-05	Ubiquitin proteasome system protein	BrainSpLMD|54941	OMIM|610432;HPO|54941|Anteverted nares, Anxiety, Apnea, Autosomal dominant inheritance, Cerebral cortical atrophy, Cerebral palsy, Clumsiness, Delayed cranial suture closure, Delayed speech and language development, Gait disturbance, Gastroesophageal reflux, Generalized hypotonia, Hydrocephalus, Hypertrichosis, Hypoglycemia, Hypoinsulinemia, Intellectual disability, Keratoconjunctivitis sicca, Large forehead, Macrocephaly, Macroglossia, Mandibular prognathia, Osteopenia, Pneumonia, Raynaud phenomenon, Scoliosis, Seizures, Syncope, Telecanthus, Thick eyebrow, Ventriculomegaly, Wide nose
Endothelial	HERC2P9	1.44654648	1.31E-05			
Endothelial	MANF	0.431879466	1.31E-05	Unclassified	BrainSpLMD|7873	OMIM|601916
Endothelial	NFKB1	1.063449244	1.32E-05	Transcription factor	BrainSpLMD|4790;Eurexp|euxassay_017997|floorplate, naris, stomach, thymus primordium, ventricular layer;BrainSpMouseDev|17800	OMIM|164011;HPO|4790|Anal atresia, Autoimmune thrombocytopenia, Autosomal dominant inheritance, Brachycephaly, Bronchiectasis, Chronic obstructive pulmonary disease, Chronic otitis media, Decreased antibody level in blood, Elevated hepatic transaminases, Hemolytic anemia, Immunodeficiency, Lymphadenopathy, Lymphopenia, Pneumonia, Purpura, Recurrent bronchitis, Recurrent sinopulmonary infections, Recurrent skin infections, Splenomegaly, Variable expressivity
Endothelial	COX5B	0.700215031	1.32E-05	Enzyme: Oxidoreductase	BrainSpLMD|1329;Eurexp|euxassay_005933|embryo	OMIM|123866
Endothelial	RPL17	0.75716173	1.32E-05	Ribosomal subunit	BrainSpLMD|6139	OMIM|603661
Endothelial	TMEM8A	2.077490754	1.34E-05	Integral membrane protein	BrainSpLMD|58986;Eurexp|euxassay_006522|calyces, lung, midgut, olfactory, pyloric region, rectum, renal/urinary system, vagus X, vestibulocochlear VIII	
Endothelial	OTULIN	0.518496643	1.34E-05	Unclassified	BrainSpLMD|90268	OMIM|615712;HPO|90268|Arthralgia, Autosomal recessive inheritance, Failure to thrive, Joint swelling, Leukocytosis, Lipodystrophy, Lymphadenopathy, Myalgia, Neutrophilia
Endothelial	HSPA2	1.335344032	1.34E-05	Heat shock protein	BrainSpLMD|3306;Eurexp|euxassay_003311|basal plate, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, pancreas, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|140560
Endothelial	FAM63A	2.082578905	1.34E-05			
Endothelial	SDCBP	0.791631565	1.38E-05	Adapter molecule	BrainSpLMD|6386;Eurexp|euxassay_008333|naris, olfactory, respiratory	OMIM|602217
Endothelial	UPP1	2.052421364	1.40E-05	Enzyme: Phosphorylase	BrainSpLMD|7378;Eurexp|euxassay_006779|olfactory	OMIM|191730
Endothelial	RHOBTB1	0.721315747	1.41E-05	GTPase	BrainSpLMD|9886	OMIM|607351
Endothelial	FAM91A1	0.992748743	1.45E-05	Unclassified	BrainSpLMD|157769;Eurexp|euxassay_000052|Meckel's cartilage, carpus, clavicle, exoccipital bone, femur, fibula, humerus, intervertebral disc, mesenchyme, metatarsus, pelvic girdle, rib, scapula, tibia, vertebra, vertebral cartilage condensation	
Endothelial	RPS2	0.51480122	1.45E-05	Ribosomal subunit	BrainSpLMD|6187;Eurexp|euxassay_005928|embryo	OMIM|603624
Endothelial	GPBP1L1	0.683447995	1.45E-05	Unclassified	BrainSpLMD|60313	
Endothelial	ADRB2	1.990715573	1.46E-05	G protein coupled receptor	BrainSpLMD|154;Eurexp|euxassay_013681|lobe, naris	SFARI||Autism, 4 - Minimal evidence;OMIM|109690
Endothelial	CDR2	2.810686129	1.48E-05	DNA binding protein	BrainSpLMD|1039;Eurexp|euxassay_009006|left, mantle layer, right	OMIM|117340
Endothelial	GLRX	0.683345095	1.49E-05	Enzyme: Oxidoreductase	BrainSpLMD|2745	OMIM|600443
Endothelial	PLK3	1.264276664	1.53E-05	Serine/threonine kinase	BrainSpLMD|1263	OMIM|602913
Endothelial	RPS2P46	0.352308211	1.54E-05			
Endothelial	RNF19A	0.933159354	1.55E-05	Ubiquitin proteasome system protein	BrainSpLMD|25897	OMIM|607119
Endothelial	ARFGEF2	0.905768714	1.58E-05	Guanine nucleotide exchange factor	BrainSpLMD|10564	OMIM|605371;HPO|10564|Autosomal recessive inheritance, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile onset, Intellectual disability, Intellectual disability, severe, Microcephaly, Periventricular gray matter heterotopia, Poor eye contact, Progressive microcephaly, Seizures, Tetraparesis
Endothelial	SOD1	0.752863535	1.58E-05	Enzyme: Superoxide dismutase	BrainSpLMD|6647	SFARI||Autism, No category;OMIM|147450;HPO|6647|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Degeneration of anterior horn cells, Degeneration of the lateral corticospinal tracts, Depressivity, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Heterogeneous, Hyperreflexia, Muscle cramps, Muscle weakness, Neurodegeneration, Pain, Paralysis, Pseudobulbar paralysis, Respiratory failure, Skeletal muscle atrophy, Sleep apnea, Spasticity, Xerostomia
Endothelial	RAB11A	0.576140778	1.60E-05	GTPase	BrainSpLMD|8766	OMIM|605570
Endothelial	HSPA1B	1.036775376	1.64E-05	Chaperone	BrainSpLMD|3304	OMIM|603012
Endothelial	MRPL34	0.75821771	1.65E-05	Ribosomal subunit	BrainSpLMD|64981	OMIM|611840
Endothelial	DPP8	0.567790483	1.66E-05	Aminopeptidase	BrainSpLMD|54878	OMIM|606819
Endothelial	CHD1	0.25530894	1.68E-05	DNA binding protein	BrainSpLMD|1105	OMIM|602118
Endothelial	SLC12A7	0.541598986	1.68E-05	Membrane transport protein	BrainSpLMD|10723;Eurexp|euxassay_009467|trigeminal V, vestibulocochlear VIII	OMIM|604879
Endothelial	CTD.2666L21.1	2.013134005	1.69E-05			
Endothelial	RP11.758H9.2	0.7004005	1.71E-05			
Endothelial	RP11.758P17.3	1.729731312	1.78E-05			
Endothelial	POFUT2	0.512367221	1.80E-05	Enzyme: Fucosyltransferase	BrainSpLMD|23275	OMIM|610249
Endothelial	MIR616	1.937210319	1.82E-05			OMIM|614489
Endothelial	DAD1	0.774013875	1.83E-05	Adapter molecule	BrainSpLMD|1603;Eurexp|euxassay_012117|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|600243
Endothelial	HNRNPU.AS1	1.149930366	1.84E-05			
Endothelial	PHF11	1.575520835	1.84E-05	DNA binding protein	BrainSpLMD|51131;Eurexp|euxassay_003051|axial muscle, incisor, orbito-sphenoid, submandibular gland primordium, thymus primordium, vibrissa	OMIM|607796
Endothelial	ELMSAN1	0.266959801	1.87E-05	DNA binding protein	BrainSpLMD|91748	
Endothelial	MAP3K8	1.107104218	1.89E-05	Serine/threonine kinase	BrainSpLMD|1326	OMIM|191195;HPO|1326|Alveolar cell carcinoma, Autosomal recessive inheritance
Endothelial	B3GNT2	0.911184382	1.89E-05	Enzyme: Transferase	BrainSpLMD|10678;BrainSpMouseDev|32943	OMIM|605581
Endothelial	CASP7	3.01608273	1.91E-05	Cysteine protease	BrainSpLMD|840;Eurexp|euxassay_006180|choroid invagination, choroid plexus, olfactory, roof plate, thymus primordium	OMIM|601761
Endothelial	ZMPSTE24	1.586464333	1.94E-05	Metallo protease	BrainSpLMD|10269	OMIM|606480;HPO|10269|Abnormal cellular phenotype, Abnormal trabecular bone morphology, Abnormality of the dentition, Abnormality of the fingertips, Abnormality of the neck, Abnormality of the pinna, Absence of pubertal development, Absent eyelashes, Acroosteolysis of distal phalanges (feet), Adrenal hypoplasia, Alopecia, Aminoaciduria, Angina pectoris, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Aplastic clavicles, Arteriosclerosis of small cerebral arteries, Arthrogryposis multiplex congenita, Atrial septal defect, Autosomal recessive inheritance, Bilateral coxa valga, Bird-like facies, Blepharophimosis, Brittle hair, Broad-based gait, Calcinosis, Choanal atresia, Congenital pseudoarthrosis of the clavicle, Convex nasal ridge, Craniofacial disproportion, Cyanosis, Decreased adipose tissue around neck, Decreased calvarial ossification, Decreased fetal movement, Decreased serum estradiol, Decreased skull ossification, Decreased testosterone in males, Delayed cranial suture closure, Delayed eruption of teeth, Dental crowding, Dermal atrophy, Dermal translucency, Downslanted palpebral fissures, Entropion, Epidermal hyperkeratosis, Failure to thrive, Flexion contracture, Generalized hyperkeratosis, Generalized lipodystrophy, Glucose intolerance, Hepatic steatosis, Heterogeneous, High palate, High pitched voice, Hydropic placenta, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypermetropia, Hyperphosphatemia, Hyperpigmentation of the skin, Hypertelorism, Hypertension, Hypodontia, Hypogonadotrophic hypogonadism, Hypohidrosis, Hypoplasia of teeth, Hypoplastic facial bones, Hypoplastic nipples, Hypospadias, Hypotrichosis, Increased anterioposterior diameter of thorax, Infertility, Insulin resistance, Insulin-resistant diabetes mellitus, Intermittent claudication, Intrauterine growth retardation, Joint stiffness, Keratoconjunctivitis sicca, Kyphoscoliosis, Kyphosis, Lack of skin elasticity, Large fontanelles, Lipoatrophy, Loss of facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Loss of truncal subcutaneous adipose tissue, Low-set ears, Macrotia, Metaphyseal widening, Micrognathia, Mottled pigmentation, Multiple joint contractures, Nail dysplasia, Nail dystrophy, Narrow mouth, Narrow nasal ridge, Narrow nasal tip, Nasal speech, Natal tooth, Osteoarthritis, Osteolytic defects of the distal phalanges of the hand, Osteopenia, Osteoporosis, Overtubulated long bones, Ovoid vertebral bodies, Patent ductus arteriosus, Polyhydramnios, Premature birth, Premature coronary artery disease, Premature delivery because of cervical insufficiency or membrane fragility, Premature graying of hair, Premature loss of teeth, Premature rupture of membranes, Progeroid facial appearance, Progressive clavicular acroosteolysis, Prolonged prothrombin time, Prominent forehead, Prominent scalp veins, Prominent superficial blood vessels, Proptosis, Pulmonary hypoplasia, Reticulated skin pigmentation, Rocker bottom foot, Scaling skin, Sensorineural hearing impairment, Short clavicles, Short distal phalanx of finger, Short nail, Short nose, Short palpebral fissure, Short phalanx of finger, Short stature, Short umbilical cord, Skin erosion, Small placenta, Sparse and thin eyebrow, Sparse eyebrow, Sparse eyelashes, Sparse hair, Sparse or absent eyelashes, Stiff skin, Stillbirth, Structural foot deformity, Submucous cleft hard palate, Tapering pointed ends of distal finger phalanges, Telecanthus, Temporomandibular joint ankylosis, Thin bony cortex, Thin clavicles, Thin nail, Thin ribs, Thin skin, Thin vermilion border, Thrombocytosis, Ureteral duplication, Widely patent fontanelles and sutures, Wormian bones
Endothelial	SYNM	2.158253328	1.95E-05	Cytoskeletal protein	BrainSpLMD|23336	OMIM|606087
Endothelial	MT.TK	0.8839417	1.97E-05			
Endothelial	GPX8	1.426272651	1.97E-05	Unclassified	BrainSpLMD|493869;Eurexp|euxassay_003757|alimentary system, brain, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, spinal cord, tail	OMIM|617172
Endothelial	LINC00888	0.883510994	1.97E-05			
Endothelial	RNF139	1.210649475	1.99E-05	Integral membrane protein	BrainSpLMD|11236	OMIM|603046;HPO|11236|Renal cell carcinoma, Sporadic
Endothelial	CAPN2	0.695858597	2.00E-05	Cysteine protease	BrainSpLMD|824;Eurexp|euxassay_015893|floor plate, floorplate, mantle layer	OMIM|114230
Endothelial	ZNF684	0.82959671	2.03E-05	Transcription regulatory protein	BrainSpLMD|127396	
Endothelial	ALDOA	0.399072348	2.03E-05	Enzyme: Lyase;Enzyme: Aldolase	BrainSpLMD|226	OMIM|103850;HPO|226|Autosomal recessive inheritance, Cholecystitis, Cholelithiasis, Delayed puberty, Epicanthus, Jaundice, Low posterior hairline, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Ptosis, Short neck, Short stature, Splenomegaly
Endothelial	OTUD4	0.250819914	2.09E-05	Unclassified	BrainSpLMD|54726	OMIM|611744
Endothelial	RIT1	0.772018232	2.14E-05	GTPase	BrainSpLMD|6016;Eurexp|euxassay_012013|Meckel's cartilage, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, orbito-sphenoid, petrous part, rib, scapula, tibia, turbinate	OMIM|609591;HPO|6016|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of the spleen, Abnormality of the sternum, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Coarse hair, Cryptorchidism, Curly hair, Cystic hygroma, Delayed skeletal maturation, Downslanted palpebral fissures, Dysarthria, Enlarged thorax, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Hepatomegaly, High forehead, High palate, Hyperkeratosis, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadotrophic hypogonadism, Joint hyperflexibility, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Micrognathia, Midface retrusion, Muscle weakness, Muscular hypotonia, Pectus carinatum, Pectus excavatum, Polyhydramnios, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Relative macrocephaly, Scoliosis, Short neck, Short stature, Strabismus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Triangular face, Ventricular septal defect, Webbed neck, Wide intermamillary distance
Endothelial	LMBR1	1.067314064	2.15E-05	Cell surface receptor	BrainSpLMD|64327	OMIM|605522;HPO|64327|1-5 finger complete cutaneous syndactyly, 1-5 finger syndactyly, 2-3 toe syndactyly, 6 metacarpals, Abnormal heart morphology, Abnormality of epiphysis morphology, Abnormality of the face, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the wrist, Absent forearm, Absent hand, Absent metatarsal bone, Absent radius, Absent tibia, Absent toe, Aplasia of metacarpal bones, Aplasia of the phalanges of the hand, Aplasia of the tarsal bones, Aplasia of the ulna, Aplasia/Hypoplasia of the thumb, Autosomal dominant inheritance, Autosomal recessive inheritance, Bowing of the long bones, Broad foot, Camptodactyly of finger, Carpal bone aplasia, Clinodactyly of the 5th finger, Complete duplication of distal phalanx of the thumb, Depressed nasal ridge, Duplication of phalanx of hallux, Duplication of thumb phalanx, Fibular aplasia, Fibular duplication, Finger syndactyly, Foot polydactyly, Hand polydactyly, Increased fibular diameter, Limb duplication, Limitation of joint mobility, Lower limb peromelia, Mirror image polydactyly, Opposable triphalangeal thumb, Patellar aplasia, Polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Preaxial foot polydactyly, Preaxial hand polydactyly, Prominent nose, Short columella, Short foot, Short humerus, Short tibia, Supernumerary metacarpal bones, Syndactyly, Talipes, Tarsal synostosis, Toe syndactyly, Triphalangeal thumb, Underdeveloped nasal alae, Upper limb phocomelia
Endothelial	KDM7A	0.617019883	2.15E-05	Unclassified		
Endothelial	CDC42SE1	1.113386112	2.23E-05	Unclassified	BrainSpLMD|56882	
Endothelial	LSM8	0.598889293	2.24E-05	RNA binding protein	BrainSpLMD|51691	OMIM|607288
Endothelial	SYNJ2	1.319194232	2.25E-05	Lipid phosphatase	BrainSpLMD|8871;Eurexp|euxassay_012284|molar, skeletal muscle, submandibular gland primordium	OMIM|609410
Endothelial	ERO1L	0.30081866	2.28E-05			
Endothelial	ERMP1	1.171282308	2.31E-05	Integral membrane protein	Eurexp|euxassay_012449|fundus region, incisor, molar, naris, olfactory, submandibular gland primordium, urethra	OMIM|611156
Endothelial	EEF1A1	0.523003164	2.36E-05	Transcription regulatory protein	BrainSpLMD|1915	OMIM|130590
Endothelial	PIM2	0.269881341	2.37E-05	Serine/threonine kinase	BrainSpLMD|11040	OMIM|300295
Endothelial	TRMT112	0.661598191	2.39E-05	Unclassified	BrainSpLMD|51504;Eurexp|euxassay_005921|embryo	
Endothelial	EIF3J	0.738714289	2.40E-05	Translation regulatory protein	BrainSpLMD|8669	OMIM|603910
Endothelial	EIF1	0.611128876	2.41E-05	Translation regulatory protein	BrainSpLMD|10209	
Endothelial	SLC25A37	0.872280702	2.42E-05	Transport/cargo protein	BrainSpLMD|51312;Eurexp|euxassay_007768|liver, mesenchyme	OMIM|610387
Endothelial	MKL2	0.368139716	2.45E-05	Transcription factor	BrainSpLMD|57496	SFARI||Autism, 4 - Minimal evidence;OMIM|609463
Endothelial	CSTB	1.018372075	2.47E-05	Protease inhibitor	BrainSpLMD|1476;Eurexp|euxassay_009738|bladder, mandible, maxilla, stomach, thymus primordium	OMIM|601145;HPO|1476|Absence seizures, Ataxia, Autosomal recessive inheritance, Dysarthria, EEG with polyspike wave complexes, Generalized tonic-clonic seizures, Intention tremor, Limb ataxia, Mental deterioration, Morning myoclonic jerks, Myoclonus
Endothelial	RGL2	0.367025982	2.49E-05	GTPase	BrainSpLMD|5863;Eurexp|euxassay_006228|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|602306
Endothelial	PDIA6	1.536751051	2.49E-05	Enzyme: Isomerase	BrainSpLMD|10130	OMIM|611099
Endothelial	DARS	1.14622971	2.51E-05	ATPase	BrainSpLMD|1615	OMIM|603084;HPO|1615|Autosomal recessive inheritance, Babinski sign, CNS hypomyelination, Hyperreflexia, Hypoplasia of the corpus callosum, Infantile onset, Leukoencephalopathy, Motor delay, Muscular hypotonia of the trunk, Nystagmus, Progressive, Spasticity
Endothelial	PLOD2	1.363997523	2.57E-05	Enzyme: Hydroxylase	BrainSpLMD|5352;Eurexp|euxassay_008722|axial skeleton, basisphenoid bone, clavicle, exoccipital bone, mesenchyme, nasal septum, otic capsule, petrous part, rib, sternum, tongue, trachea, turbinate	OMIM|601865;HPO|5352|Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Elbow flexion contracture, Femoral bowing, Flexion contracture, Hydroxyprolinuria, Increased susceptibility to fractures, Inguinal hernia, Joint stiffness, Knee flexion contracture, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes equinovarus, Triangular face, Wormian bones
Endothelial	CYLD	1.052041343	2.57E-05	Ubiquitin proteasome system protein	BrainSpLMD|1540;Eurexp|euxassay_001691|bladder, epidermis, foregut-midgut junction, hindgut, lung, midgut, naris, oesophagus, olfactory, oral epithelium, pituitary, rectum, stomach, urethra, vibrissa	OMIM|605018;COSMIC||cylindroma, cylindroma;HPO|1540|Adult onset, Autosomal dominant inheritance, Milia, Neoplasm, Neoplasm of the skin, Papule, Subcutaneous nodule, Telangiectasia of the skin
Endothelial	DNAJA4	0.954740343	2.58E-05	Unclassified	BrainSpLMD|55466;Eurexp|euxassay_012762|choroid invagination, choroid plexus, liver, roof plate	
Endothelial	CTD.3252C9.4	0.284281613	2.64E-05			
Endothelial	8-Sep	1.982231848	2.72E-05			
Endothelial	PSMC5	0.655234799	2.72E-05	Ubiquitin proteasome system protein	BrainSpLMD|5705	OMIM|601681
Endothelial	TMEM205	0.950041092	2.79E-05	Unclassified	BrainSpLMD|374882	OMIM|613771
Endothelial	MAP2K3	1.307212313	2.81E-05	Serine/threonine kinase	BrainSpLMD|5606	OMIM|602315
Endothelial	ADIPOR2	1.711266738	2.90E-05	Integral membrane protein	BrainSpLMD|79602;Eurexp|euxassay_001439|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X	OMIM|607946
Endothelial	MOB1A	0.892019533	2.95E-05	Unclassified	BrainSpLMD|55233	OMIM|609281
Endothelial	BCL10	1.07098229	2.97E-05	Adapter molecule	BrainSpLMD|8915	OMIM|603517;COSMIC||MALT;HPO|8915|Anemia, Autosomal recessive inheritance, B-cell lymphoma, Constipation, Decreased antibody level in blood, Encephalitis, Fatigue, Fever, Gastric lymphoma, Hyperhidrosis, Immunodeficiency, Infantile onset, Nausea and vomiting, Pulmonary infiltrates, Recurrent infections, Seizures, Weight loss
Endothelial	RAB29	0.766882921	3.00E-05	GTPase	BrainSpLMD|8934	OMIM|603949
Endothelial	AGFG1	1.56376485	3.02E-05	RNA binding protein	BrainSpLMD|3267	OMIM|600862
Endothelial	GABPA	0.520433522	3.03E-05	Transcription factor	BrainSpLMD|2551;BrainSpMouseDev|14166	OMIM|600609
Endothelial	MIR3679	1.04177441	3.03E-05			
Endothelial	RP11.739N20.3	1.421058615	3.04E-05			
Endothelial	AP2S1	0.721656961	3.04E-05	Adapter molecule	BrainSpLMD|1175	OMIM|602242;HPO|1175|Autosomal dominant inheritance, Bone pain, Chondrocalcinosis, Hypercalcemia, Hypermagnesemia, Hypocalciuria, Hypophosphatemia, Multiple lipomas, Osteomalacia, Pancreatitis, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyperparathyroidism
Endothelial	DNAJB9	1.153973838	3.05E-05	Chaperone	BrainSpLMD|4189	OMIM|602634
Endothelial	PCBP2	0.458401805	3.05E-05	RNA binding protein	BrainSpLMD|5094	OMIM|601210
Endothelial	X7SK	0.481899489	3.05E-05			
Endothelial	SKIL	0.792069364	3.06E-05	Unclassified	BrainSpLMD|6498	OMIM|165340
Endothelial	GPX4	1.211203373	3.08E-05	Enzyme: Peroxidase	BrainSpLMD|2879	OMIM|138322;HPO|2879|11 pairs of ribs, Abnormality of the ribs, Abnormality of the scapula, Arrhythmia, Atrial septal defect, Atrioventricular block, Autosomal recessive inheritance, Brachydactyly, Cardiorespiratory arrest, Cerebellar hypoplasia, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped metacarpal epiphyses, Cupped ribs, Delayed epiphyseal ossification, Delayed skeletal maturation, Depressed nasal bridge, Flared iliac wings, Flat acetabular roof, Focal lissencephaly, Generalized hypotonia, Iliac crest serration, Irregular tarsal bones, Large posterior fontanelle, Long fibula, Metaphyseal chondrodysplasia, Metaphyseal cupping, Metaphyseal irregularity, Muscular hypotonia, Narrow chest, Narrow greater sacrosciatic notches, Platyspondyly, Porencephalic cyst, Posteriorly rotated ears, Redundant skin, Rhizomelia, Rhizomelic arm shortening, Short finger, Short long bone, Short metacarpal, Short neck, Short palm, Short phalanx of finger, Short ribs, Short toe, Spondylometaphyseal dysplasia, Talipes equinovarus, Turricephaly, Widened sacrosciatic notch
Endothelial	LRRC8A	0.721860101	3.08E-05	Unclassified;Integral membrane protein	BrainSpLMD|56262	OMIM|608360;HPO|56262|Agammaglobulinemia, Arthritis, Autosomal dominant inheritance, Chronic otitis media, Conjunctivitis, Cough, Diarrhea, Epicanthus, Failure to thrive, Fatigue, Fever, High palate, Hypertelorism, Immunodeficiency, Low-set ears, Osteomyelitis, Recurrent respiratory infections, Recurrent skin infections, Sinusitis, Skin rash
Endothelial	ARF6	0.671687969	3.10E-05	Transport/cargo protein	BrainSpLMD|382;BrainSpMouseDev|11632	OMIM|600464
Endothelial	RAB33B	0.865197792	3.11E-05	GTPase	BrainSpLMD|83452	OMIM|605950;HPO|83452|Autosomal recessive inheritance, Barrel-shaped chest, Broad femoral neck, Broad phalanx, Decreased body weight, Disproportionate short-trunk short stature, Flattened femoral head, Genu valgum, Hypoplasia of the odontoid process, Pectus carinatum, Pes planus, Platyspondyly, Short metacarpal, Short metatarsal, Short neck, Short phalanx of finger
Endothelial	P4HA1	0.379294124	3.12E-05	Enzyme: Hydroxylase	BrainSpLMD|5033;Eurexp|euxassay_000584|Meckel's cartilage, axial skeleton, chondrocranium, incisor, limb, molar, nasal capsule, pectoral girdle and thoracic body wall	OMIM|176710
Endothelial	TNFAIP1	0.659087751	3.20E-05	Unclassified	BrainSpLMD|7126;Eurexp|euxassay_011960|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones, valve, vault of skull	OMIM|191161
Endothelial	MESDC1	0.667245683	3.23E-05			
Endothelial	RP11.25C19.3	0.491587815	3.33E-05			
Endothelial	PLOD3	0.486349802	3.36E-05	Enzyme: Hydroxylase	BrainSpLMD|8985;Eurexp|euxassay_000665|axial skeleton, chondrocranium, incisor, nasal capsule, pectoral girdle and thoracic body wall	OMIM|603066;HPO|8985|Abnormality of the pinna, Anteverted nares, Arterial rupture, Autosomal recessive inheritance, Bruising susceptibility, Cataract, Coarse hair, Decreased palmar creases, Diaphragmatic eventration, Dilatation of the cerebral artery, Downturned corners of mouth, Elbow flexion contracture, Flat face, Global developmental delay, Hearing impairment, Hypoplasia of the capital femoral epiphysis, Intrauterine growth retardation, J-shaped sella turcica, Long philtrum, Low-set ears, Malar flattening, Myopia, Nail dysplasia, Osteopenia, Pathologic fracture, Platyspondyly, Postnatal growth retardation, Scoliosis, Shallow orbits, Short nose, Talipes equinovarus, Thenar muscle atrophy
Endothelial	PIK3C2A	0.842693997	3.38E-05	Lipid Kinase	BrainSpLMD|5286	OMIM|603601
Endothelial	NCK1	0.272690976	3.40E-05	Adapter molecule	BrainSpLMD|4690	OMIM|600508
Endothelial	PDCD4	0.441022697	3.45E-05	Unclassified	BrainSpLMD|27250;Eurexp|euxassay_010730|epidermis, epithelium, floor plate, floorplate, larynx, olfactory, sternum, thymus primordium, urethra, ventricular layer	OMIM|608610
Endothelial	AP3B1	1.815766156	3.54E-05	Adapter molecule	BrainSpLMD|8546	OMIM|603401;HPO|8546|Aberrant melanosome maturation, Acetabular dysplasia, Albinism, Autosomal recessive inheritance, Carious teeth, Coarse facial features, Congenital onset, Fair hair, Hepatomegaly, Hip dysplasia, Intellectual disability, mild, Long philtrum, Low-set ears, Microcephaly, Motor delay, Neutropenia, Nystagmus, Ocular albinism, Periodontitis, Photophobia, Posteriorly rotated ears, Pulmonary fibrosis, Recurrent bacterial infections, Reduced visual acuity, Smooth philtrum, Splenomegaly, Strabismus, Thin upper lip vermilion, Thrombocytopenia, Upslanted palpebral fissure, Visual impairment, Wide nasal bridge
Endothelial	SLC43A3	1.525893887	3.54E-05	Membrane transport protein	BrainSpLMD|29015	
Endothelial	HSPA8	0.692939023	3.59E-05	Heat shock protein	BrainSpLMD|3312	OMIM|600816
Endothelial	SLC5A6	1.692769656	3.63E-05	Membrane transport protein	BrainSpLMD|8884;Eurexp|euxassay_019690|axial muscle, choroid plexus, lung, pectoral girdle and thoracic body wall, pericardium, pituitary, urethra	OMIM|604024
Endothelial	GOLPH3L	0.732402004	3.70E-05	Unclassified	BrainSpLMD|55204	OMIM|612208
Endothelial	P4HB	1.246703225	3.74E-05	Enzyme: Isomerase		OMIM|176790;HPO|5034|Abnormal form of the vertebral bodies, Abnormality of dental enamel, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the voice, Autosomal dominant inheritance, Blue sclerae, Bowing of the long bones, Communicating hydrocephalus, Coronal craniosynostosis, Crumpled long bones, Delayed eruption of teeth, Frontal bossing, High pitched voice, Intrauterine growth retardation, Kyphosis, Microdontia, Micrognathia, Midface retrusion, Muscular hypotonia, Orbital craniosynostosis, Osteopenia, Proptosis, Recurrent fractures, Scoliosis, Shallow orbits, Short stature, Skeletal dysplasia, Turricephaly, Vertebral compression fractures, Wormian bones
Endothelial	RP11.265N6.3	0.406835133	3.75E-05			
Endothelial	SLC39A11	0.990242721	3.80E-05	Membrane transport protein	BrainSpLMD|201266	SFARI||Autism, No category;OMIM|616508
Endothelial	INPPL1	1.386374774	3.83E-05	Lipid phosphatase	BrainSpLMD|3636;Eurexp|euxassay_000229|central nervous system, limb, vertebral axis muscle system	OMIM|600829;HPO|3636|Abnormal vertebral ossification, Abnormality of epiphysis morphology, Abnormality of the fingernails, Abnormality of the metaphysis, Anterior rib cupping, Anteverted nares, Autosomal recessive inheritance, Bell-shaped thorax, Brachydactyly, Cryptorchidism, Delayed skeletal maturation, Depressed nasal bridge, Disproportionate short-limb short stature, Dolichocephaly, Edema, Fibular hypoplasia, Flat acetabular roof, Flat occiput, Frontal bossing, Generalized hypotonia, Hypertelorism, Hypoplastic ilia, Hypoplastic ischia, Hypoplastic pubic bone, Hypoplastic scapulae, Hypoplastic toenails, Hypoplastic vertebral bodies, Increased fibular diameter, Large fontanelles, Lateral clavicle hook, Long philtrum, Lymphedema, Macrocephaly, Malar flattening, Metaphyseal cupping, Micromelia, Muscular hypotonia, Narrow chest, Polyhydramnios, Posterior rib cupping, Protuberant abdomen, Recurrent respiratory infections, Respiratory insufficiency, Rhizomelia, Severe platyspondyly, Severe short stature, Short foot, Short long bone, Short neck, Short nose, Short palm, Short ribs, Squared iliac bones, Tapered finger
Endothelial	PXDC1	0.777893456	3.91E-05	Unclassified	BrainSpLMD|221749	
Endothelial	DCTD	0.635881499	3.92E-05	Enzyme: Deaminase	BrainSpLMD|1635;Eurexp|euxassay_003473|lung, metanephros, midgut, olfactory, orbito-sphenoid, pancreas, respiratory, submandibular gland primordium, thymus primordium, vibrissa	OMIM|607638
Endothelial	MTMR12	0.598820142	3.99E-05	Adapter molecule	BrainSpLMD|54545	OMIM|606501
Endothelial	COL5A1	0.536889377	3.99E-05	Extracellular matrix protein	BrainSpLMD|1289;BrainSpMouseDev|12614	OMIM|120215;HPO|1289|Abnormality of oral frenula, Abnormality of the eyelashes, Aortic dilatation, Aortic dissection, Aortic root dilatation, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Arterial dissection, Arteriovenous fistulas of celiac and mesenteric vessels, Atrophic scars, Autosomal dominant inheritance, Bladder diverticulum, Blue sclerae, Bowel diverticulosis, Bruising susceptibility, Carious teeth, Cigarette-paper scars, Cognitive impairment, Congenital diaphragmatic hernia, Cryptorchidism, Dermal translucency, Ectopia lentis, Epicanthus, Femoral hernia, Flat face, Fragile skin, Gastroesophageal reflux, Gastrointestinal infarctions, Genu recurvatum, Glaucoma, Global developmental delay, Hallux valgus, Hyperextensibility at elbow, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Hyperextensible skin, Hypertelorism, Hypokalemia, Infantile muscular hypotonia, Inguinal hernia, Internal hemorrhage, Irregularly spaced teeth, Joint dislocation, Joint hyperflexibility, Lop ear, Macule, Melanocytic nevus, Mitral valve prolapse, Molluscoid pseudotumors, Myopia, Narrow maxilla, Osteoarthritis, Pectus carinatum, Pectus excavatum, Peripheral arteriovenous fistula, Pes planus, Pneumothorax, Poor wound healing, Premature birth, Premature birth following premature rupture of fetal membranes, Proptosis, Protruding ear, Respiratory insufficiency, Scoliosis, Short stature, Soft skin, Sprengel anomaly, Subcutaneous spheroids, Talipes equinovarus, Telangiectasia of the skin, Telecanthus, Thin skin, Thin vermilion border, Umbilical hernia, Varicose veins
Endothelial	CREB3L2	1.274491506	4.00E-05	Transcription factor	BrainSpLMD|64764;BrainSpMouseDev|83997	OMIM|608834;COSMIC||fibromyxoid sarcoma
Endothelial	UXT	0.499910515	4.01E-05	Transcription regulatory protein	BrainSpLMD|8409	OMIM|300234
Endothelial	BDH2	1.71502979	4.02E-05	Enzyme: Oxidoreductase	BrainSpLMD|56898	
Endothelial	RPS23	0.662628027	4.05E-05	Ribosomal subunit	BrainSpLMD|6228	OMIM|603683;HPO|6228|Abnormality of the pinna, Autistic behavior, Autosomal dominant inheritance, Cleft palate, Conductive hearing impairment, Depressed nasal bridge, Epicanthus, Flat occiput, Generalized hypotonia, High palate, Highly arched eyebrow, Increased number of teeth, Intellectual disability, mild, Long eyelashes, Low-set ears, Microcephaly, Motor delay, Short stature, Single transverse palmar crease, Thick eyebrow
Endothelial	RDH10	1.17561742	4.11E-05	Enzyme: Dehydrogenase	BrainSpLMD|157506;Eurexp|euxassay_005601|bladder, brain, footplate, genital tubercle, handplate, lip, mesothelium, midgut, naris, olfactory, rectum, spinal cord, stomach	OMIM|607599
Endothelial	EVA1C	2.524536925	4.15E-05	Integral membrane protein	BrainSpLMD|59271;Eurexp|euxassay_007192|cochlea, ventricular layer	
Endothelial	NEU1	1.331622283	4.16E-05	Enzyme: Hydrolase	BrainSpLMD|4758;Eurexp|euxassay_003345|loop, midgut	OMIM|608272;HPO|4758|Abnormal form of the vertebral bodies, Aminoaciduria, Ascites, Ataxia, Autosomal recessive inheritance, Bone-marrow foam cells, Cardiomegaly, Cardiomyopathy, Cataract, Cherry red spot of the macula, Coarse facial features, Corneal opacity, Decreased nerve conduction velocity, Delayed skeletal maturation, Dysmetria, Dysostosis multiplex, EEG abnormality, Epiphyseal stippling, Facial edema, Frontal bossing, Gait disturbance, Generalized hypotonia, Hepatomegaly, Hernia, Hydrops fetalis, Hyperkeratosis, Hyperreflexia, Increased urinary O-linked sialopeptides, Inguinal hernia, Intellectual disability, Muscle weakness, Muscular hypotonia, Myoclonus, Neurological speech impairment, Nystagmus, Pectus carinatum, Progressive visual loss, Proteinuria, Retinopathy, Scoliosis, Seizures, Sensorineural hearing impairment, Short stature, Short thorax, Skeletal dysplasia, Skeletal muscle atrophy, Slurred speech, Splenomegaly, Thick lower lip vermilion, Tremor, Urinary excretion of sialylated oligosaccharides, Vacuolated lymphocytes, Vascular skin abnormality, Visual impairment, Wide nasal bridge
Endothelial	TECR	0.292881732	4.17E-05	Enzyme: Reductase	BrainSpLMD|9524;Eurexp|euxassay_004555|cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, marginal layer, neural retina, nucleus pulposus, rib, right lung, stroma, submandibular gland primordium, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610057;HPO|9524|Autosomal recessive inheritance, Delayed speech and language development, Intellectual disability, Narrow palate
Endothelial	NUFIP2	0.501546736	4.18E-05	RNA binding protein	BrainSpLMD|57532	OMIM|609356
Endothelial	PNRC2	0.626333799	4.24E-05	Ligand	Eurexp|euxassay_002876|thymus primordium, ventricular layer	OMIM|611882
Endothelial	RPS14	0.313212744	4.26E-05	Ribosomal subunit	BrainSpLMD|6208	OMIM|130620;HPO|6208|Abnormality of cells of the megakaryocyte lineage, Autosomal dominant contiguous gene syndrome, Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Somatic mutation, Sporadic
Endothelial	SPATS2L	0.824342119	4.31E-05	Unclassified	BrainSpLMD|26010;Eurexp|euxassay_013635|bladder, exoccipital bone, mantle layer, mesenchyme, oesophagus, orbito-sphenoid, penis, pharyngo-tympanic tube, tongue, turbinate, vertebral axis muscle system, vibrissa	OMIM|613817
Endothelial	LAPTM4B	0.684932765	4.35E-05	Unclassified	BrainSpLMD|55353;Eurexp|euxassay_001940|basal plate, choroid plexus, dorsal root ganglion, incisor, lateral recess, mantle layer, submandibular gland primordium, trigeminal V, ventral grey horn, vestibulocochlear VIII;BrainSpMouseDev|76980	OMIM|613296
Endothelial	DSTN	0.418336866	4.40E-05	Cytoskeletal associated protein	BrainSpLMD|11034;Eurexp|euxassay_001919|atrium, bladder, brain, cervico-thoracic, dorsal root ganglion, epidermis, epithelium, glossopharyngeal IX, hindgut, midgut, neural retina, oesophagus, olfactory, oral epithelium, pharyngo-tympanic tube, respiratory, spinal cord, stomach, stroma, submandibular gland primordium, thoracic, thymus primordium, thyroid, trachea, trigeminal V, vagus X, ventricle, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, wall	OMIM|609114
Endothelial	MLEC	0.773580974	4.48E-05	Unclassified	BrainSpLMD|9761;Eurexp|euxassay_016414|clavicle, lung, mandible, maxilla, orbito-sphenoid, submandibular gland primordium, temporal bone, turbinate	OMIM|613802
Endothelial	HSPA5	1.403927417	4.54E-05	Chaperone	BrainSpLMD|3309	OMIM|138120
Endothelial	NDUFB10	0.666621269	4.55E-05	Enzyme: Oxidoreductase	BrainSpLMD|4716	OMIM|603843;HPO|4716|Abnormal mitochondria in muscle tissue
Endothelial	DONSON	0.347205171	4.60E-05	Unclassified	BrainSpLMD|29980	OMIM|611428;HPO|29980|Abnormality of the hand, Autosomal recessive inheritance, Forearm undergrowth, Intrauterine growth retardation, Microcephaly, Micromelia
Endothelial	KIF1C	1.253947899	4.67E-05	Motor protein	BrainSpLMD|10749;Eurexp|euxassay_011014|mandible, maxilla, meninges, midgut, rectum, submandibular gland primordium, vibrissa	OMIM|603060;HPO|10749|Autosomal recessive inheritance, Babinski sign, Distal amyotrophy, Dysarthria, Dysmetria, Fasciculations, Frequent falls, Gait ataxia, Head titubation, Horizontal nystagmus, Hyperreflexia, Progressive, Spastic ataxia, Spasticity
Endothelial	ZNF330	0.354198303	4.67E-05	Unclassified	BrainSpLMD|27309	OMIM|609550
Endothelial	SSR4	0.42483367	4.68E-05	Membrane transport protein	BrainSpLMD|6748;Eurexp|euxassay_002889|Meckel's cartilage, axial skeleton, basisphenoid bone, chondrocranium, exoccipital bone, incisor, lobe, molar, nasal capsule, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, rib, submandibular gland primordium, thymus primordium, turbinate	OMIM|300090;HPO|6748|Abnormal facial shape, Abnormality of upper lip vermillion, Clinodactyly, Congenital onset, Deeply set eye, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hypospadias, Intellectual disability, Joint dislocation, Macrotia, Microcephaly, Micrognathia, Scoliosis, Seizures, Strabismus, Type I transferrin isoform profile, Vomiting, Wide mouth, Widely spaced teeth, X-linked recessive inheritance
Endothelial	CDC26	0.60143683	4.71E-05	Cell cycle control protein	BrainSpLMD|246184	OMIM|614533
Endothelial	FBXO25	1.08725507	4.78E-05	Ubiquitin proteasome system protein	BrainSpLMD|26260;Eurexp|euxassay_004436|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V	OMIM|609098
Endothelial	ARPC3	1.158668086	4.79E-05	Cytoskeletal associated protein		OMIM|604225
Endothelial	GPR126	2.82209273	4.93E-05			
Endothelial	CCT4	0.85783078	4.93E-05	Chaperone	BrainSpLMD|10575	SFARI||Autism, 3 - Suggestive evidence;OMIM|605142
Endothelial	TRIM16	0.383283947	4.98E-05	Cytoskeletal protein	BrainSpLMD|10626	OMIM|609505
Endothelial	CLN8	0.961307663	4.99E-05	Integral membrane protein	BrainSpLMD|2055	SFARI||Autism, 4 - Minimal evidence;OMIM|607837;HPO|2055|Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Clumsiness, Curvilinear intracellular accumulation of autofluorescent lipopigment storage material, Delayed speech and language development, Developmental regression, EEG abnormality, Focal seizures with impairment of consciousness or awareness, Generalized tonic-clonic seizures, Increased neuronal autofluorescent lipopigment, Intellectual disability, Irritability, Mental deterioration, Myoclonus, Progressive visual loss, Psychosis, Restlessness, Seizures, Slow progression
Endothelial	KIAA0355	0.850916197	5.05E-05	Unclassified	BrainSpLMD|9710;Eurexp|euxassay_011009|lung, ovary	
Endothelial	LYPLA1	0.72968079	5.09E-05	Enzyme: Phospholipase	BrainSpLMD|10434	OMIM|605599
Endothelial	FERMT2	0.278916355	5.10E-05	Cytoskeletal protein	BrainSpLMD|10979;Eurexp|euxassay_012610|hindgut, metanephros, midgut, stomach, ventricular layer, wall	OMIM|607746
Endothelial	AC093673.5	1.168141934	5.19E-05			
Endothelial	EIF1AD	0.712731555	5.26E-05	Unclassified	BrainSpLMD|84285	
Endothelial	SP3	1.060971004	5.38E-05	Transcription factor	BrainSpLMD|6670;BrainSpMouseDev|20449	OMIM|601804
Endothelial	TSTA3	1.201373365	5.40E-05	Enzyme: Oxidoreductase	BrainSpLMD|7264;Eurexp|euxassay_007432|embryo	OMIM|137020
Endothelial	IL10RB	1.86136135	5.51E-05	Cytokine receptor	BrainSpLMD|3588	OMIM|123889;HPO|3588|Autosomal recessive inheritance, Enterocolitis, Perianal abscess, Rectal abscess, Rectovaginal fistula
Endothelial	RPL41P1	0.782306023	5.52E-05			
Endothelial	PPT2	1.336311358	5.60E-05	Enzyme: Hydrolase	BrainSpLMD|9374	OMIM|603298
Endothelial	AK2	0.504982796	5.62E-05	Enzyme: Phosphotransferase	BrainSpLMD|204;Eurexp|euxassay_001711|axial muscle, cortex, foregut-midgut junction, hindgut, lobe, midgut, molar, nucleus pulposus, orbito-sphenoid, rectum, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|103020;HPO|204|Abnormality of mitochondrial metabolism, Abnormality of neutrophils, Abnormality of the thymus, Absent cellular immunity, Anemia, Aplasia/Hypoplasia of the thymus, Autosomal recessive inheritance, Cellular immunodeficiency, Chronic otitis media, Congenital agranulocytosis, Decreased antibody level in blood, Diarrhea, Failure to thrive, Fever, Hearing impairment, Leukopenia, Lymphopenia, Malabsorption, Recurrent respiratory infections, Sepsis, Severe combined immunodeficiency, Weight loss
Endothelial	ARAF	0.562158602	5.72E-05	Serine/threonine kinase	BrainSpLMD|369	OMIM|311010;COSMIC||cholangiocarcinoma, lung adenocarcinoma, Langerhans cell histiocytosis
Endothelial	MRFAP1	0.471833657	5.74E-05	Adapter molecule	BrainSpLMD|93621	OMIM|616905
Endothelial	MAFB	0.972778617	5.91E-05	Transcription regulatory protein	BrainSpLMD|9935;Eurexp|euxassay_019539|dorsal root ganglion, glossopharyngeal IX, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lung, mantle layer, metanephros, neural retina, pancreas, trigeminal V, urethra, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16430	OMIM|608968;COSMIC||MM;HPO|9935|Abnormal vertebral segmentation and fusion, Ankle swelling, Anteverted nares, Arthralgia, Autosomal dominant inheritance, Blepharophimosis, Cachexia, Camptodactyly of finger, Carpal osteolysis, Deeply set eye, EMG abnormality, Gait disturbance, Hypertension, Hypoplasia of the maxilla, Impaired ocular abduction, Impaired ocular adduction, Limitation of joint mobility, Low posterior hairline, Metacarpal osteolysis, Metatarsal osteolysis, Micrognathia, Nephropathy, Oculomotor nerve palsy, Osteolysis involving tarsal bones, Osteopenia, Pes cavus, Proptosis, Proteinuria, Renal insufficiency, Sensorineural hearing impairment, Short palpebral fissure, Slender long bone, Strabismus, Triangular face, Ulnar deviation of the hand, Wrist swelling
Endothelial	STIM2	1.330011726	5.95E-05	Adhesion molecule	BrainSpLMD|57620	OMIM|610841
Endothelial	C11orf31	0.529268469	5.95E-05			
Endothelial	BTBD3	0.471318848	5.95E-05	Unclassified	BrainSpLMD|22903;Eurexp|euxassay_006662|adenohypophysis, anterior, axial skeleton, cartilaginous ring, cervical, cervico-thoracic, clavicle, diaphragm, epithelium, glossopharyngeal IX, lip, mantle layer, marginal layer, mesenchyme, oral epithelium, pectoralis major, pectoralis minor, phalanx, posterior, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|615566
Endothelial	KIAA0141	0.364928245	6.12E-05	Unclassified	BrainSpLMD|9812	OMIM|615741
Endothelial	ARL2	1.862157381	6.23E-05	GTPase		OMIM|601175
Endothelial	SLC44A2	0.630570488	6.29E-05	Integral membrane protein	BrainSpLMD|57153	OMIM|606106
Endothelial	PDCD6	1.605534889	6.34E-05	Calcium binding protein		OMIM|601057
Endothelial	FAM114A1	1.001203968	6.35E-05	Unclassified	BrainSpLMD|92689;Eurexp|euxassay_002429|Meckel's cartilage, cranium	
Endothelial	KLHL3	1.026512987	6.36E-05	Cytoskeletal associated protein	BrainSpLMD|26249	OMIM|605775;HPO|26249|Autosomal dominant inheritance, Autosomal recessive inheritance, Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia, Hypertension, Pseudohypoaldosteronism
Endothelial	ARPC1A	0.398556636	6.41E-05	Cytoskeletal protein	BrainSpLMD|10552	OMIM|604220
Endothelial	ZNF720	0.635794202	6.45E-05	DNA binding protein	BrainSpLMD|124411	
Endothelial	TAGLN2P1	0.330033103	6.52E-05			
Endothelial	HIST1H3A	2.83510885	6.64E-05	DNA binding protein	BrainSpLMD|8350	OMIM|602810
Endothelial	COPA	0.432029071	6.65E-05	Transport/cargo protein	BrainSpLMD|1314;Eurexp|euxassay_003303|clavicle, mandible, maxilla, rib	OMIM|601924
Endothelial	RPL10	0.451413049	6.68E-05	Ribosomal subunit	BrainSpLMD|6134;Eurexp|euxassay_015677|embryo	SFARI||Autism, 4 - Minimal evidence;OMIM|312173;COSMIC||T-ALL;HPO|6134|Abnormal facial shape, Ankle contracture, Branchial cyst, Camptodactyly, Cryptorchidism, Dental crowding, Finger syndactyly, Gastroesophageal reflux, Hypospadias, Knee flexion contracture, Laryngomalacia, Mandibular prognathia, Microcephaly, Muscular hypotonia, Protruding ear, Pulmonary artery stenosis, Recurrent infections, Sacral lipoma, Seizures, Self-injurious behavior, Sensorineural hearing impairment, Severe postnatal growth retardation, Single transverse palmar crease, Tapered finger, Thin upper lip vermilion
Endothelial	SNX9	0.762808239	6.69E-05	Adapter molecule	BrainSpLMD|51429;Eurexp|euxassay_012283|molar	OMIM|605952
Endothelial	RFTN2	0.608910499	6.86E-05	Unclassified	BrainSpLMD|130132	
Endothelial	RRN3P3	0.370602087	6.93E-05			
Endothelial	DERA	0.815178026	7.00E-05	Enzyme: Lyase	BrainSpLMD|51071	
Endothelial	RPS27	0.298866155	7.01E-05	Ribosomal subunit		OMIM|603702;HPO|6232|Abnormality of skin pigmentation, Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Anemia, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Macrocytic anemia, Migraine, Pallor
Endothelial	MACF1	0.39924499	7.06E-05	Cytoskeletal associated protein	BrainSpLMD|23499;Eurexp|euxassay_011134|brain, diaphragm, extraembryonic component, facial VII, footplate, glossopharyngeal IX, handplate, left lung, metanephros, oesophagus, paraxial mesenchyme, rest of mesenchyme, right lung, skeletal muscle, spinal cord, trigeminal V, vagus X, vertebral axis muscle system, vibrissa	OMIM|608271
Endothelial	VPS13A	0.486714967	7.08E-05	Transport/cargo protein	BrainSpLMD|23230;Eurexp|euxassay_008591|thymus primordium	OMIM|605978;HPO|23230|Abnormal bleeding, Abnormal urinary color, Abnormality of vision, Acanthocytosis, Aggressive behavior, Anxiety, Areflexia, Ataxia, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Caudate atrophy, Cerebral cortical atrophy, Chorea, Death in early adulthood, Developmental regression, Difficulty in tongue movements, Disinhibition, Distal upper limb muscle weakness, Drooling, Dysarthria, Dysgraphia, Dysphagia, Dystonia, EMG abnormality, Elevated serum creatine phosphokinase, Fatigue, Gait disturbance, Hyporeflexia, Limb muscle weakness, Memory impairment, Mood changes, Muscle fiber atrophy, Muscular hypotonia, Myopathy, Orofacial dyskinesia, Pallor, Parkinsonism, Peripheral neuropathy, Personality changes, Pes cavus, Progressive, Progressive choreoathetosis, Progressive distal muscular atrophy, Protruding tongue, Psychosis, Seizures, Self-mutilation of tongue and lips due to involuntary movements, Sensory neuropathy, Skeletal muscle atrophy, Tics, Tremor, Ventriculomegaly
Endothelial	NDUFAF3	0.901373898	7.08E-05	Unclassified	BrainSpLMD|25915;Eurexp|euxassay_006731|olfactory	OMIM|612911;HPO|25915|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
Endothelial	PIGT	1.841571155	7.11E-05	Enzyme: Aminotransferase	BrainSpLMD|51604	OMIM|610272;HPO|51604|Abdominal pain, Abnormality of the dentition, Arthralgia, Autosomal dominant inheritance, Autosomal recessive inheritance, Brachycephaly, Cerebellar hypoplasia, Cerebral atrophy, Deep philtrum, Delayed skeletal maturation, Depressed nasal bridge, Diarrhea, Downturned corners of mouth, Dyspnea, EEG abnormality, Fatigue, Generalized hypotonia, Global developmental delay, Headache, Hemolytic anemia, High forehead, High palate, Hypercalciuria, Hypermetropia, Hypoplasia of the ulna, Infantile onset, Inverted nipples, Large for gestational age, Long philtrum, Macrocephaly, Narrow forehead, Nephrocalcinosis, Nystagmus, Open mouth, Osteopenia, Osteoporosis, Paroxysmal nocturnal hemoglobinuria, Patent ductus arteriosus, Pectus excavatum, Renal cyst, Restrictive cardiomyopathy, Scoliosis, Seizures, Somatic mutation, Strabismus, Ureteral stenosis, Urticaria, Visual impairment
Endothelial	HDLBP	0.871645621	7.27E-05	Transport/cargo protein;RNA binding protein	BrainSpLMD|3069	OMIM|142695
Endothelial	LINC00984	1.113424926	7.31E-05			
Endothelial	SMARCA2	1.353050225	7.36E-05	Transcription factor	BrainSpLMD|6595;Eurexp|euxassay_000790|cerebral cortex, mesenchyme	SFARI||Autism, No category;OMIM|600014;HPO|6595|Abnormal hair pattern, Abnormality of the metacarpal bones, Absence seizures, Absent eyebrow, Absent speech, Aggressive behavior, Alopecia, Anteverted nares, Aphasia, Autosomal dominant inheritance, Blepharophimosis, Brachydactyly, Broad distal phalanx of finger, Broad philtrum, Clubbing of toes, Cryptorchidism, Curly eyelashes, Dysphasia, Echolalia, Eczema, Epileptic spasms, Everted lower lip vermilion, Excessive wrinkled skin, Failure to thrive, Global developmental delay, High, narrow palate, Highly arched eyebrow, Hypotrichosis, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint dislocation, Long eyelashes, Long philtrum, Low anterior hairline, Microcephaly, Mutism, Narrow nasal bridge, Poor speech, Prominent interphalangeal joints, Sandal gap, Scoliosis, Seizures, Severe short stature, Short metacarpal, Short metatarsal, Short palm, Short palpebral fissure, Short phalanx of finger, Smooth philtrum, Sparse scalp hair, Specific learning disability, Status epilepticus, Thick lower lip vermilion, Thick nasal alae, Thin vermilion border, Triangular face, Wide intermamillary distance, Wide mouth, Wide nasal base
Endothelial	ACSL3	0.758697806	7.43E-05	Enzyme: Ligase	BrainSpLMD|2181;Eurexp|euxassay_006620|embryo	OMIM|602371;COSMIC||prostate
Endothelial	FEZ2	0.872063808	7.45E-05	Unclassified	BrainSpLMD|9637	OMIM|604826
Endothelial	BPGM	0.598820384	7.54E-05	Enzyme: Mutase	BrainSpLMD|669;Eurexp|euxassay_007323|liver	OMIM|613896;HPO|669|Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Cholecystitis, Cholelithiasis, Jaundice, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Splenomegaly
Endothelial	SAR1A	0.37365135	7.56E-05	GTPase	BrainSpLMD|56681;Eurexp|euxassay_004471|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|607691
Endothelial	PICALM	1.052553612	7.61E-05	Transport/cargo protein	BrainSpLMD|8301	OMIM|603025;COSMIC||T-ALL, AML
Endothelial	GSTM1	2.50672896	7.67E-05	Enzyme: Glutathione transferase	BrainSpLMD|2944	SFARI||Autism, 4 - Minimal evidence;OMIM|138350
Endothelial	TMSB4XP1	0.593937901	7.84E-05	-	BrainSpLMD|7115	
Endothelial	TMEM223	0.626170962	7.91E-05	Unclassified		
Endothelial	RELA	1.50636303	8.01E-05	Transcription factor	BrainSpLMD|5970;Eurexp|euxassay_000778|axial skeleton, diaphragm, foregut-midgut junction, hindgut, incisor, limb, midgut, molar, nasal capsule, tongue, vertebral axis muscle system, vibrissa;BrainSpMouseDev|19460	OMIM|164014
Endothelial	QKI	0.305984596	8.15E-05	RNA binding protein	BrainSpLMD|9444;Eurexp|euxassay_012259|diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, lens, lung, mandible, mantle layer, marginal layer, maxilla, meninges, midgut, neural retina, orbito-sphenoid, petrous part, skeletal muscle, stomach, submandibular gland primordium, turbinate, vault of skull, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|609590;COSMIC||angiocentric glioma, colorectal cancer
Endothelial	MT.TA	0.72976978	8.16E-05			
Endothelial	DDX58	0.601413993	8.19E-05	RNA helicase	BrainSpLMD|23586;Eurexp|euxassay_009569|calyces, olfactory, ovary, stomach, submandibular gland primordium, thymus primordium	OMIM|609631;HPO|23586|Autosomal dominant inheritance, Glaucoma, Hyperkeratosis
Endothelial	LRRC55	0.591603186	8.21E-05	Unclassified	BrainSpLMD|219527	OMIM|615213
Endothelial	SLU7	0.528540821	8.24E-05	Unclassified	BrainSpLMD|10569	OMIM|605974
Endothelial	PIGS	0.684166054	8.28E-05	Anchor protein	BrainSpLMD|94005	OMIM|610271
Endothelial	XPC	0.863153863	8.37E-05	DNA binding protein	BrainSpLMD|7508;Eurexp|euxassay_007481|embryo	SFARI||Autism, No category;OMIM|613208;COSMIC||skin basal cell, skin squamous cell, melanoma;HPO|7508|Abnormality of the dentition, Arthralgia, Autosomal recessive inheritance, Basal cell carcinoma, Cataract, Childhood onset, Cognitive impairment, Conjunctival telangiectasia, Conjunctivitis, Cryptorchidism, Cutaneous melanoma, Cutaneous photosensitivity, Defective DNA repair after ultraviolet radiation damage, Dermal atrophy, Developmental regression, Dry skin, EEG abnormality, Ectropion, Entropion, Erythema, Failure to thrive, Fatigue, Fever, Freckling, Hyperkeratosis, Hypermelanotic macule, Hypogonadism, Hypopigmentation of the skin, Hypopigmented skin patches, Intellectual disability, progressive, Keratitis, Melanoma, Optic atrophy, Papilloma, Photophobia, Poikiloderma, Sensorineural hearing impairment, Squamous cell carcinoma of the skin, Strabismus, Telangiectasia, Telangiectasia of the skin, Thin skin
Endothelial	CTSA	1.675517944	8.52E-05	Serine protease	BrainSpLMD|5476	OMIM|613111;HPO|5476|Abnormal vertebral morphology, Autosomal recessive inheritance, Cherry red spot of the macula, Coarse facial features, Conjunctival telangiectasia, Corneal opacity, Decreased beta-galactosidase activity, Dysostosis multiplex, Hearing impairment, Hemangioma, Intellectual disability, Opacification of the corneal stroma, Seizures, Severe short stature, Skeletal dysplasia
Endothelial	GATAD2A	1.14290305	8.64E-05	Transcription regulatory protein	BrainSpLMD|54815;BrainSpMouseDev|87820	OMIM|614997
Endothelial	FAM105A	0.516302807	8.72E-05	Unclassified	BrainSpLMD|54491;Eurexp|euxassay_012367|mesenchyme	
Endothelial	KLHL20	1.57898565	8.74E-05	Cytoskeletal associated protein	BrainSpLMD|27252;Eurexp|euxassay_005048|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thymus primordium, trigeminal V, vagus X	OMIM|617679
Endothelial	RAB27A	0.623406233	8.80E-05	GTPase	BrainSpLMD|5873;Eurexp|euxassay_004818|adenohypophysis, cervical, cervico-thoracic, lip, medulla, thoracic, thymus primordium	OMIM|603868;HPO|5873|Abnormality of the cerebellum, Accumulation of melanosomes in melanocytes, Autosomal recessive inheritance, Death in childhood, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Hypopigmentation of hair, Hypopigmentation of the skin, Immunodeficiency, Infantile onset, Jaundice, Lymphadenopathy, Melanin pigment aggregation in hair shafts, Neutropenia, Pancytopenia, Partial albinism, Premature graying of hair, Recurrent bacterial infections, Reduced delayed hypersensitivity, Seizures, Silver-gray hair, Spasticity, Splenomegaly
Endothelial	FBXO7	0.607826667	8.82E-05	Ubiquitin proteasome system protein	BrainSpLMD|25793;Eurexp|euxassay_000818|dorsal root ganglion, gall bladder, liver, trigeminal V, vagus X	OMIM|605648;HPO|25793|Abnormality of extrapyramidal motor function, Autosomal recessive inheritance, Babinski sign, Bradykinesia, Dysarthria, Dystonia, Hyperreflexia, Hypomimic face, Lower limb spasticity, Parkinsonism with favorable response to dopaminergic medication, Postural instability, Rigidity, Scissor gait, Slow progression, Slow saccadic eye movements, Talipes equinovarus, Tremor, Young adult onset
Endothelial	DNAJC21	0.845236492	8.96E-05	DNA binding protein	BrainSpLMD|134218	OMIM|617048;HPO|134218|Abnormality of skin pigmentation, Abnormality of the metaphysis, Anemia, Autosomal recessive inheritance, Bone marrow hypocellularity, Delayed skeletal maturation, Eczema, Exocrine pancreatic insufficiency, Failure to thrive, Generalized hypotonia, Global developmental delay, Hyperkeratosis, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Malabsorption, Neutropenia, Osteopenia, Pancytopenia, Recurrent infections, Short stature, Thrombocytopenia
Endothelial	ARFIP1	1.317242562	9.09E-05	Unclassified	BrainSpLMD|27236	OMIM|605928
Endothelial	PSMB4	0.765391092	9.18E-05	Ubiquitin proteasome system protein	BrainSpLMD|5692	OMIM|602177
Endothelial	TMEM14C	0.546156469	9.27E-05	Integral membrane protein	BrainSpLMD|51522;Eurexp|euxassay_000161|basal plate, biceps, brachialis, cerebral cortex, deltoid, dorsal root ganglion, erector spinae, external oblique, facial VII, floorplate, genioglossus, glossopharyngeal IX, gluteus maximus, hamstring, hyoglossus, ilio-psoas, infraspinatus, inner ear, intrinsic, labyrinth, lateral wall, latissimus dorsi, mantle layer, marginal layer, masseter, midbrain, middle ear, myelohyoid, naso-lacrimal duct, neural retina, otic capsule, palatoglossus, pectoralis major, pectoralis minor, quadratus lumborum, quadriceps, rectus abdominis, retina, roof plate, serratus anterior, skeletal muscle, spinal cord, styloglossus, sublingual gland primordium, submandibular gland primordium, subscapularis, supraspinatus, tegmentum, telencephalon, teres major, thymus primordium, transverse component, transversus abdominis, trapezius, triceps, trigeminal V, vagus X, ventricular layer, vertical component, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|615318
Endothelial	ERVK3.1	1.019117996	9.35E-05			
Endothelial	RCAN1	1.27752816	9.40E-05	Unclassified	BrainSpLMD|1827	OMIM|602917
Endothelial	LCAT	1.432017862	9.54E-05	Enzyme: Acyltransferase	BrainSpLMD|3931;Eurexp|euxassay_018623|liver, ventricle	OMIM|606967;HPO|3931|Autosomal recessive inheritance, Corneal opacity, Decreased circulating high-density lipoprotein levels, Hemolytic anemia, Hypertriglyceridemia, Increased circulating low-density lipoprotein levels, Increased circulating very-low-density lipoprotein levels, Normochromic anemia, Opacification of the corneal stroma, Proteinuria, Renal insufficiency
Endothelial	RNF13	0.641268614	9.61E-05	Ubiquitin proteasome system protein	BrainSpLMD|11342;Eurexp|euxassay_010064|ventricular layer	OMIM|609247
Endothelial	TUBD1	0.258428593	9.67E-05	Cytoskeletal protein	BrainSpLMD|51174	OMIM|607344
Endothelial	FKBP14	0.468428984	9.85E-05	Enzyme: Isomerase	BrainSpLMD|55033;Eurexp|euxassay_003765|Meckel's cartilage, basisphenoid bone, clavicle, incisor, molar, orbito-sphenoid, rib, turbinate	OMIM|614505;HPO|55033|Atrophic scars, Autosomal recessive inheritance, Bruising susceptibility, Easy fatigability, Elevated serum creatine phosphokinase, Follicular hyperkeratosis, Hernia, High-frequency sensorineural hearing impairment, Hyperextensible skin, Joint hypermobility, Kyphoscoliosis, Motor delay, Muscular hypotonia, Myopathy, Myopia, Osteopenia, Pes planus, Phenotypic variability, Poor head control, Sensorineural hearing impairment, Severe muscular hypotonia, Skeletal muscle atrophy, Soft skin
Endothelial	WHAMM	1.433931858	9.86E-05	Unclassified		OMIM|612393
Endothelial	CCNY	1.346610544	9.89E-05	Unclassified	BrainSpLMD|219771	OMIM|612786
Endothelial	CRK	0.645642536	9.91E-05	Adapter molecule	BrainSpLMD|1398	OMIM|164762
Endothelial	TCFL5	0.530009594	9.95E-05	Transcription factor	BrainSpLMD|10732;BrainSpMouseDev|93209	OMIM|604745
Endothelial	SRI	0.587626308	0.000100066	Calcium binding protein	BrainSpLMD|6717	OMIM|182520
Endothelial	BIN1	0.608801003	0.000100531	Adapter molecule	BrainSpLMD|274;Eurexp|euxassay_008004|diaphragm, mesenchyme, rest of mesenchyme, shoulder joint primordium, skeletal muscle, tongue, vertebral axis muscle system	SFARI||Autism, No category;OMIM|601248;HPO|274|Areflexia, Autosomal recessive inheritance, Axial muscle weakness, Centrally nucleated skeletal muscle fibers, Distal muscle weakness, Dysarthria, Dysphonia, EMG: myopathic abnormalities, Facial palsy, Feeding difficulties in infancy, Flexion contracture, Generalized amyotrophy, Gowers sign, Hyperlordosis, Kyphosis, Motor delay, Neonatal hypotonia, Onset, Ophthalmoplegia, Ptosis, Scoliosis, Waddling gait
Endothelial	PRKAB1	1.254498345	0.00010126	Regulatory/other subunit	BrainSpLMD|5564	OMIM|602740
Endothelial	MAP4K3	1.682952477	0.000104158	Serine/threonine kinase	BrainSpLMD|8491	OMIM|604921
Endothelial	SEPN1	0.418462138	0.000104692			
Endothelial	MERTK	0.724035768	0.00010652	Receptor tyrosine kinase	BrainSpLMD|10461;BrainSpMouseDev|17058	OMIM|604705;HPO|10461|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Macular atrophy, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Peripheral retinal atrophy, Photophobia, Progressive night blindness, Progressive visual loss, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
Endothelial	TOB2	0.718639128	0.000106522	Cell cycle control protein	BrainSpLMD|10766;Eurexp|euxassay_002023|Meckel's cartilage, orbito-sphenoid	OMIM|607396
Endothelial	ADAM19	0.807559546	0.000108329	Metallo protease	BrainSpLMD|8728;Eurexp|euxassay_002478|bladder, mantle layer;BrainSpMouseDev|11280	OMIM|603640
Endothelial	NAALAD2	0.635641748	0.000110318	Enzyme: Hydrolase	BrainSpLMD|10003	OMIM|611636
Endothelial	CALU	0.47474918	0.000110918	Calcium binding protein	BrainSpLMD|813	OMIM|603420
Endothelial	PLTP	1.210874461	0.000112845	Transport/cargo protein	BrainSpLMD|5360	OMIM|172425
Endothelial	LMAN2	0.551334073	0.000113508	Transport/cargo protein	BrainSpLMD|10960	OMIM|609551
Endothelial	BECN1	0.834186867	0.000113533	Adapter molecule	BrainSpLMD|8678;Eurexp|euxassay_007144|embryo	OMIM|604378
Endothelial	KDELR2	0.723084603	0.000113677	Transport/cargo protein	BrainSpLMD|11014;Eurexp|euxassay_004155|axial skeleton, cervical region, clavicle, cranium, femur, fibula, footplate, handplate, humerus, leg, lumbar region, mandible, orbito-sphenoid, otic capsule, palatal shelf, radius, rib, sacral region, sternum, thoracic region, tibia, turbinate bones, ulna	OMIM|609024
Endothelial	CHMP2A	1.514693711	0.000114984	Transport/cargo protein	BrainSpLMD|27243;Eurexp|euxassay_001955|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, olfactory, pancreas, rectum, spinal cord, thoracic, thymus primordium, trigeminal V, urethra, vibrissa	OMIM|610893
Endothelial	OSBPL10	0.547208932	0.000116621	Transport/cargo protein	BrainSpLMD|114884;Eurexp|euxassay_008182|dorsal root ganglion, glossopharyngeal IX, mantle layer, testis, trigeminal V, ventral grey horn	OMIM|606738
Endothelial	CNKSR3	0.658791708	0.000117249	Unclassified	BrainSpLMD|154043	OMIM|617476
Endothelial	AKAP12	0.701482946	0.000117601	Anchor protein	BrainSpLMD|9590	OMIM|604698
Endothelial	OSTM1	0.818273239	0.000118867	Unclassified	BrainSpLMD|28962	OMIM|607649;HPO|28962|Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Decreased osteoclast count, Hydrocephalus, Osteopetrosis, Stillbirth
Endothelial	FAM120A	0.772752464	0.000118982	Unclassified	BrainSpLMD|23196	OMIM|612265
Endothelial	PSMA7	0.539800102	0.000119743	Ubiquitin proteasome system protein	BrainSpLMD|5688	OMIM|606607
Endothelial	PRKAA1	0.537760969	0.00011984	Serine/threonine kinase	BrainSpLMD|5562	OMIM|602739
Endothelial	PABPC1P3	1.079032136	0.00011988			
Endothelial	NLRC5	1.551326996	0.000119881	Unclassified	BrainSpLMD|84166	OMIM|613537
Endothelial	MALT1	1.080580149	0.000120143	Enzyme: Hydrolase	BrainSpLMD|10892;Eurexp|euxassay_013774|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|604860;COSMIC||MALT;HPO|10892|Anemia, Autosomal recessive inheritance, B-cell lymphoma, Constipation, Fatigue, Fever, Growth delay, Hyperhidrosis, Immunodeficiency, Nausea and vomiting, Pulmonary infiltrates, Recurrent bacterial infections, Recurrent viral infections, Weight loss
Endothelial	RPS26P43	1.208093772	0.000121856			
Endothelial	C8orf4	1.044098591	0.000122181			
Endothelial	STAT2	0.673892491	0.000122674	Transcription factor	BrainSpLMD|6773	OMIM|600556;HPO|6773|Autosomal recessive inheritance, Variable expressivity
Endothelial	CDKN2AIP	1.046520885	0.000124138	RNA binding protein	BrainSpLMD|55602	OMIM|615914
Endothelial	REL	1.123157378	0.000124334	Transcription factor	BrainSpLMD|5966	OMIM|164910;COSMIC||Hodgkin lymphoma
Endothelial	TUSC3	0.734766865	0.000124848	Integral membrane protein	BrainSpLMD|7991;Eurexp|euxassay_012104|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, peripheral nervous system, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|601385;HPO|7991|Autosomal recessive inheritance, Intellectual disability
Endothelial	IKBKB	1.019975717	0.000125487	Serine/threonine kinase	BrainSpLMD|3551	OMIM|603258;COSMIC||SMZL, Immunodeficiency 15;HPO|3551|Agammaglobulinemia, Autosomal recessive inheritance, Chronic diarrhea, Failure to thrive, Immunodeficiency, Infantile onset, Respiratory tract infection
Endothelial	BCKDK	0.390060774	0.00012704	Enzyme: Phosphotransferase	BrainSpLMD|10295	SFARI||Autism, 2 - Strong candidate;OMIM|614901;HPO|10295|Abnormality of branched chain family amino acid metabolism, Autism, Intellectual disability, Seizures
Endothelial	LAMTOR5	0.317316757	0.000129339	Unclassified	BrainSpLMD|10542	OMIM|608521
Endothelial	RPL23AP7	0.696627096	0.000129731			
Endothelial	ITPR2	0.490267409	0.000131935	Transport/cargo protein	BrainSpLMD|3709;Eurexp|euxassay_013833|mantle layer	OMIM|600144;HPO|3709|Anhidrosis, Autosomal recessive inheritance, Generalized anhidrosis, Heat intolerance
Endothelial	FRMD4B	0.443996014	0.000132709	Unclassified		OMIM|617467
Endothelial	TSPAN12	2.377788835	0.000132853	Integral membrane protein	BrainSpLMD|23554	OMIM|613138;HPO|23554|Autosomal dominant inheritance, Exudative vitreoretinopathy, Pigmentary retinal degeneration
Endothelial	BFAR	1.225803617	0.000133174	Regulatory/other subunit	BrainSpLMD|51283	
Endothelial	C19orf10	0.649051167	0.000136577			
Endothelial	GMDS	0.993716763	0.000138872	Enzyme: Dehydratase	BrainSpLMD|2762;Eurexp|euxassay_003883|Meckel's cartilage, clavicle, hindgut, midgut, rectum, rib, stomach, submandibular gland primordium, trachea, turbinate bones	OMIM|602884
Endothelial	SORBS3	0.649912633	0.000139068	Adhesion molecule	BrainSpLMD|10174;Eurexp|euxassay_004300|ventricle	OMIM|610795
Endothelial	ATF7IP2	0.835513739	0.000140001	Unclassified	BrainSpLMD|80063	OMIM|613645
Endothelial	CHMP5	1.074727935	0.000141109	Transport/cargo protein	BrainSpLMD|51510	OMIM|610900
Endothelial	PARVA	1.800083908	0.000141985	Cytoskeletal associated protein	BrainSpLMD|55742	OMIM|608120
Endothelial	CNIH4	0.411576903	0.000143987	Unclassified	BrainSpLMD|29097	OMIM|617483
Endothelial	DECR1	1.373898937	0.000145567	Enzyme: Reductase	BrainSpLMD|1666	OMIM|222745
Endothelial	NCOA7	1.83997751	0.000150352	Transcription regulatory protein	BrainSpLMD|135112	OMIM|609752
Endothelial	TCF7L2	0.344909233	0.000151775	Transcription factor	BrainSpLMD|6934;Eurexp|euxassay_019472|lip, mantle layer, mesenchyme, midgut, pancreas, phalanx, skeletal muscle, sternum, stomach, trachea, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|21177	SFARI||Autism, 3 - Suggestive evidence;OMIM|602228;COSMIC||colorectal
Endothelial	NUAK1	1.064079932	0.00015182	Enzyme: Phosphotransferase	BrainSpLMD|9891;Eurexp|euxassay_010978|aorta, axial skeleton, clavicle, dorsal root ganglion, incisor, mandible, mantle layer, maxilla, metanephros, molar, neural retina, olfactory, orbito-sphenoid, trigeminal V, vibrissa, vomeronasal organ	SFARI||Autism, 3 - Suggestive evidence;OMIM|608130
Endothelial	RPL5P1	0.302586865	0.00015688			
Endothelial	SLC20A1	0.270750514	0.000158379	Membrane transport protein	BrainSpLMD|6574;Eurexp|euxassay_009182|brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, liver, marginal layer, metanephros, midgut, primitive seminiferous tubules, spinal cord, submandibular gland primordium, thoracic, trigeminal V, vagus X	OMIM|137570
Endothelial	SLC35A4	0.605872013	0.000161099	Membrane transport protein	BrainSpLMD|113829;Eurexp|euxassay_004834|axial muscle, cranium, ventricular layer	
Endothelial	ZFYVE21	0.802854345	0.00016166	Transport/cargo protein	BrainSpLMD|79038;Eurexp|euxassay_011588|thymus primordium, thyroid	OMIM|613504
Endothelial	KDSR	0.834513464	0.000169664	Secreted polypeptide	BrainSpLMD|2531	OMIM|136440;COSMIC||B-NHL;HPO|2531|Abnormal blistering of the skin, Alopecia, Autosomal recessive inheritance, Cataract, Cutaneous photosensitivity, Diabetes mellitus, Dry skin, Epidermal acanthosis, Erythema, Glaucoma, Hypermelanotic macule, Microcephaly, Palmoplantar keratoderma, Patchy palmoplantar keratoderma, Short stature, Skin plaque, Skin rash, Weight loss
Endothelial	CNPY3	0.709088173	0.000169785	Unclassified	BrainSpLMD|10695;Eurexp|euxassay_013821|mantle layer	OMIM|610774
Endothelial	EIF2B2	1.267369604	0.000170929	Translation regulatory protein	BrainSpLMD|8892;Eurexp|euxassay_000019|dorsal root ganglion, ganglion, vibrissa	OMIM|606454;HPO|8892|Autosomal recessive inheritance, CNS demyelination, Cerebral hypomyelination, Cessation of head growth, Decreased circulating progesterone, Delusions, Developmental regression, Dysarthria, Emotional lability, Generalized hypotonia, Juvenile onset, Lethargy, Leukoencephalopathy, Macrocephaly, Memory impairment, Optic atrophy, Personality changes, Premature ovarian insufficiency, Primary gonadal insufficiency, Secondary amenorrhea, Seizures, Spasticity, Unsteady gait
Endothelial	SMCHD1	0.9151632	0.000171949	Unclassified	BrainSpLMD|23347;Eurexp|euxassay_008416|embryo	OMIM|614982;HPO|23347|Abdominal wall muscle weakness, Abnormality of the eyelashes, Abnormality of the midface, Abnormality of the retinal vasculature, Absent nares, Amblyopia, Anophthalmia, Anosmia, Aplasia of the nose, Autosomal dominant inheritance, Beevor's sign, Blindness, Cataract, Choanal atresia, Cleft palate, Coloboma, Cryptorchidism, Digenic inheritance, EMG abnormality, Elevated serum creatine phosphokinase, Facial palsy, Failure of eruption of permanent teeth, Foot dorsiflexor weakness, Gynecomastia, High palate, Hyperlordosis, Hypertelorism, Hypogonadism, Hypoplasia of penis, Hypoplasia of the olfactory bulb, Hyposmia, Inguinal hernia, Iris coloboma, Mask-like facies, Micropenis, Microphthalmia, Midface retrusion, Misalignment of teeth, Palpebral edema, Pelvic girdle muscle weakness, Primary amenorrhea, Scapulohumeral muscular dystrophy, Sensorineural hearing impairment, Single naris, Skeletal muscle atrophy, Visual loss
Endothelial	CHST12	1.384240868	0.000173024	Enzyme: Sulphotransferase	BrainSpLMD|55501;Eurexp|euxassay_007324|clavicle, loop, mesenchyme, naris, turbinate bones	OMIM|610129
Endothelial	PRR13	1.016741407	0.000176627	Unclassified	BrainSpLMD|54458;Eurexp|euxassay_008170|embryo	OMIM|610459
Endothelial	NXN	0.409161121	0.000181906	Enzyme: Oxidoreductase	BrainSpLMD|64359;Eurexp|euxassay_003834|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, organ system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|612895
Endothelial	PCBD1	1.5072594	0.000184671	Enzyme: Dehydratase	BrainSpLMD|5092;Eurexp|euxassay_001612|calyces, cervical, cervico-thoracic, foregut-midgut junction, hindgut, lobe, lung, midgut, pancreas, pelvis, stomach, vagus X;BrainSpMouseDev|12960	OMIM|126090;HPO|5092|Autosomal recessive inheritance, Generalized hypotonia, Hyperphenylalaninemia, Hypertonia, Motor delay, Transient hyperphenylalaninemia, Tremor
Endothelial	TXN2	0.28781705	0.000185062	Enzyme: Oxidoreductase	BrainSpLMD|25828	OMIM|609063;HPO|25828|Autosomal recessive inheritance, Axonal degeneration, Cerebellar atrophy, Congenital onset, Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex III, Delayed CNS myelination, Dystonia, Feeding difficulties, Generalized hypotonia, Global brain atrophy, Global developmental delay, Increased CSF lactate, Increased CSF protein, Increased serum lactate, Infantile onset, Microcephaly, Optic atrophy, Optic neuropathy, Peripheral neuropathy, Progressive, Retinopathy, Seizures, Spasticity, Subependymal cysts
Endothelial	TMEM64	0.797188033	0.000185639	Integral membrane protein	Eurexp|euxassay_003576|head mesenchyme, testis, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	
Endothelial	TAF1C	1.229396166	0.000186036	Transcription factor	BrainSpLMD|9013	SFARI||Autism, No category;OMIM|604905
Endothelial	RBM17	0.622487042	0.00019002	RNA binding protein	BrainSpLMD|84991	OMIM|606935
Endothelial	WDR61	0.379780786	0.000191331	Unclassified	BrainSpLMD|80349	OMIM|609540
Endothelial	SIPA1L2	0.55252411	0.000193419	GTPase activating protein	BrainSpLMD|57568;Eurexp|euxassay_006320|mantle layer, marginal layer, thymus primordium, ventricular layer;BrainSpMouseDev|89268	OMIM|611609
Endothelial	CRY1	0.631120271	0.000194977	Translation regulatory protein	BrainSpLMD|1407	OMIM|601933
Endothelial	GSTK1	1.002021586	0.000196023	Enzyme: Glutathione transferase	BrainSpLMD|373156	OMIM|602321
Endothelial	AKAP17A	0.304883121	0.000198219	Integral membrane protein		OMIM|465000
Endothelial	TIMM13	0.512397661	0.000199092	Transport/cargo protein	BrainSpLMD|26517	OMIM|607383
Endothelial	PLEKHB2	0.648117779	0.000206474	Unclassified	BrainSpLMD|55041	
Endothelial	GSTO1	0.918452806	0.000207899	Enzyme: Glutathione transferase	BrainSpLMD|9446;Eurexp|euxassay_018672|midgut, oesophagus, stomach	OMIM|605482
Endothelial	GALNT1	0.273417935	0.000208322	Enzyme: Galactosyltransferase	BrainSpLMD|2589;Eurexp|euxassay_004959|4th ventricle, clavicle, incisor, liver, lung, mandible, maxilla, metanephros, orbito-sphenoid, palatal shelf, retina, thymus primordium, trachea, ventricular layer	OMIM|602273
Endothelial	GCLM	1.210801314	0.000209536	Enzyme: Ligase	BrainSpLMD|2730;Eurexp|euxassay_018515|left, right	OMIM|601176
Endothelial	MRPL20	0.561236353	0.000209833	Ribosomal subunit	Eurexp|euxassay_006751|axial muscle, bladder, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, incisor, liver, lung, mandible, maxilla, metanephros, molar, orbito-sphenoid, pancreas, submandibular gland primordium, thoracic, trigeminal V, vagus X, vibrissa	OMIM|611833
Endothelial	FAM118A	1.252228708	0.000212991	Unclassified	BrainSpLMD|55007;Eurexp|euxassay_004603|marginal layer	
Endothelial	SLC25A3	0.590243547	0.000216515	Transport/cargo protein	BrainSpLMD|5250	OMIM|600370;HPO|5250|Abnormal mitochondrial shape, Abnormality of the mitochondrion, Autosomal recessive inheritance, Cyanosis, Failure to thrive, Hypertrophic cardiomyopathy, Increased serum lactate, Lactic acidosis, Low-output congestive heart failure, Metabolic acidosis, Muscular hypotonia, Myopathy, Respiratory insufficiency
Endothelial	RPL41	0.372949133	0.000220264	Unclassified	BrainSpLMD|6171	OMIM|613315
Endothelial	IER3IP1	0.28684283	0.000220783	Unclassified	BrainSpLMD|51124;Eurexp|euxassay_011577|brain, clavicle, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, left lung, metanephros, olfactory, retina, right lung, spinal cord, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|609382;HPO|51124|Anteverted nares, Autosomal recessive inheritance, Brisk reflexes, Congenital onset, Cortical gyral simplification, Delayed myelination, Diabetes mellitus, Feeding difficulties, Full cheeks, Generalized myoclonic seizures, Global developmental delay, High palate, Hypoplasia of the corpus callosum, Hypsarrhythmia, Intellectual disability, profound, Jaundice, Microcephaly, Muscular hypotonia of the trunk, Narrow forehead, Neonatal hypotonia, Ptosis, Recurrent respiratory infections, Tented upper lip vermilion
Endothelial	NPIPB9	0.52761967	0.000222014			
Endothelial	USP12	0.975534507	0.000222075	Ubiquitin proteasome system protein	BrainSpLMD|219333	OMIM|603091
Endothelial	NDUFS7	1.656124656	0.000224154	Enzyme: Oxidoreductase	BrainSpLMD|374291	OMIM|601825;HPO|374291|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
Endothelial	CYTH3	1.066086277	0.000228582	Guanine nucleotide exchange factor	BrainSpLMD|9265	OMIM|605081
Endothelial	HCG11	2.923639356	0.000230528			
Endothelial	NSUN6	0.592878515	0.000238313	Unclassified	BrainSpLMD|221078	OMIM|617199
Endothelial	TIMM10B	0.446488882	0.000238317	Membrane transport protein	BrainSpLMD|26515	OMIM|607388
Endothelial	ATP6V1E1	1.017448548	0.000248645	ATPase	BrainSpLMD|529;Eurexp|euxassay_018854|adrenal gland, basal plate, calyces, cochlear component, dorsal root ganglion, facial VII, inferior, superior, testis, trigeminal V, vagus X, vestibular component	OMIM|108746;HPO|529|Abnormal apolipoprotein level, Abnormal isoelectric focusing of serum transferrin, Abnormal subcutaneous fat tissue distribution, Aortic regurgitation, Atrial septal defect, Autosomal recessive inheritance, Bilateral cryptorchidism, Broad columella, Broad nasal tip, Carious teeth, Cerebellar hypoplasia, Coarse hair, Congenital hip dislocation, Dandy-Walker malformation, Decreased body weight, Decreased muscle mass, Delayed closure of the anterior fontanelle, Delayed speech and language development, Dementia, Dental crowding, Disproportionate tall stature, Downslanted palpebral fissures, Entropion, Excessive wrinkled skin, Failure to thrive, Feeding difficulties, Fragmented elastic fibers in the dermis, Generalized hypotonia, Generalized joint laxity, Global developmental delay, Hand clenching, High palate, Hip dysplasia, Hypertelorism, Infantile muscular hypotonia, Inguinal hernia, Intellectual disability, profound, Intrauterine growth retardation, Joint laxity, Knee flexion contracture, Kyphoscoliosis, Laryngomalacia, Lipodystrophy, Lissencephaly, Long philtrum, Low-set ears, Malar flattening, Mitral valve prolapse, Motor delay, Narrow naris, Nystagmus, Pachygyria, Pes planus, Polymicrogyria, Poor speech, Postnatal growth retardation, Progressive microcephaly, Prominent nasolabial fold, Prominent veins on trunk, Psychomotor deterioration, Reduced subcutaneous adipose tissue, Redundant neck skin, Seizures, Severe Myopia, Short nose, Short stature, Smooth philtrum, Sparse hair, Spasticity, Strabismus, Subretinal pigment epithelium hemorrhage, Talipes equinovarus, Thick cerebral cortex, Thick hair, Tricuspid regurgitation
Endothelial	KIF5B	0.816236774	0.000249328	Motor protein	BrainSpLMD|3799;Eurexp|euxassay_019750|olfactory	OMIM|602809;COSMIC||NSCLC, Spitzoid tumour
Endothelial	DDX21	0.584387944	0.000257405	ATPase	BrainSpLMD|9188;Eurexp|euxassay_005701|embryo	OMIM|606357
Endothelial	CTNNB1	0.977057454	0.000258329	Adhesion molecule	BrainSpLMD|1499;BrainSpMouseDev|12172	SFARI||Autism, 3 - Suggestive evidence;OMIM|116806;COSMIC||colorectal, ovarian, hepatoblastoma, pleomorphic salivary gland adenoma, other tumour types;HPO|1499|Abdominal pain, Abnormal hypothalamus morphology, Abnormal visual field test, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Autosomal dominant inheritance, Autosomal recessive inheritance, Bitemporal hemianopia, Breast carcinoma, Central adrenal insufficiency, Central diabetes insipidus, Cerebral calcification, Desmoid tumors, Dysgerminoma, Elevated alpha-fetoprotein, Enlarged pituitary gland, Epigastric pain, Excessive daytime somnolence, Fatigue, Generalized hypotonia, Global developmental delay, Headache, Hepatic fibrosis, Hepatic necrosis, Hepatocellular carcinoma, Hepatomegaly, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hypogonadotrophic hypogonadism, Hypoplasia of the corpus callosum, Incomplete penetrance, Infantile onset, Intellectual disability, Intestinal polyposis, Intracranial cystic lesion, Long philtrum, Malabsorption, Medulloblastoma, Microcephaly, Micronodular cirrhosis, Myalgia, Nausea and vomiting, Neoplasm of the anterior pituitary, Neoplasm of the stomach, Neurological speech impairment, Obesity, Ovarian papillary adenocarcinoma, Papilledema, Pilomatrixoma, Pituitary hypothyroidism, Portal vein thrombosis, Progressive visual field defects, Prolactin excess, Renal cell carcinoma, Slow decrease in visual acuity, Somatic mutation, Spastic diplegia, Strabismus, Subacute progressive viral hepatitis, Subcutaneous nodule, Thin upper lip vermilion, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Vomiting
Endothelial	CHIC2	0.498280259	0.000258706	Integral membrane protein	BrainSpLMD|26511	OMIM|604332;COSMIC||AML
Endothelial	FUBP3	0.862777957	0.00025955	Transcription factor	BrainSpLMD|8939;Eurexp|euxassay_019536|dorsal root ganglion, incisor, lung, metanephros, molar, submandibular gland primordium, ventral grey horn, vibrissa	OMIM|603536
Endothelial	TAF1B	1.006079198	0.000261414	Transcription factor	BrainSpLMD|9014	OMIM|604904
Endothelial	NUP210L	0.304802855	0.000262482	Unclassified	BrainSpLMD|91181	
Endothelial	COMMD2	0.512684484	0.000264043	Unclassified	BrainSpLMD|51122	OMIM|616699
Endothelial	TXNDC9	0.879465878	0.000266089	Unclassified;Cell cycle control protein	BrainSpLMD|10190	OMIM|612564
Endothelial	SS18	0.435241763	0.000266212	Transcription regulatory protein	BrainSpLMD|6760	OMIM|600192;COSMIC||synovial sarcoma
Endothelial	GRAMD1A	0.429499718	0.000266223	Unclassified	BrainSpLMD|57655;Eurexp|euxassay_002830|lobe, skeleton, vibrissa	
Endothelial	ANKRD40	0.680103315	0.000267947	Unclassified	BrainSpLMD|91369	
Endothelial	PREX1	0.3976107	0.000279974	Guanine nucleotide exchange factor	BrainSpLMD|57580;Eurexp|euxassay_007998|femur, humerus, mandible, mantle layer, marginal layer, maxilla, orbito-sphenoid, palatal shelf, rib, ventricular layer	SFARI||Autism, 3 - Suggestive evidence;OMIM|606905
Endothelial	MT.ND5	0.354132554	0.000281459			
Endothelial	MSL3	0.441888585	0.000282539	Transcription factor	BrainSpLMD|10943	OMIM|300609
Endothelial	CNTLN	0.455560176	0.000287516	Unclassified	BrainSpLMD|54875	OMIM|611870
Endothelial	CGRRF1	1.307766469	0.000288747	Cell cycle control protein	BrainSpLMD|10668	OMIM|606138
Endothelial	SNX8	1.981027247	0.000292093	Transport/cargo protein	BrainSpLMD|29886	OMIM|614905
Endothelial	CHCHD5	0.329271003	0.000296437	Unclassified	BrainSpLMD|84269;Eurexp|euxassay_002823|orbito-sphenoid, turbinate	OMIM|616978
Endothelial	OAZ1	0.597036975	0.000297282	Unclassified	BrainSpLMD|4946	OMIM|601579
Endothelial	SVIL	0.483753355	0.000298889	Cytoskeletal associated protein	BrainSpLMD|6840;Eurexp|euxassay_011675|epidermis, exoccipital bone, meninges, midgut, pharyngo-tympanic tube, skeletal muscle, stomach, vibrissa	OMIM|604126
Endothelial	TAF1D	0.422675627	0.000299017	Unclassified	BrainSpLMD|79101	OMIM|612823
Endothelial	BOLA3	1.357352476	0.000300509	Unclassified		OMIM|613183;HPO|388962|Abnormality of extrapyramidal motor function, Autosomal recessive inheritance, Death in infancy, Decreased activity of mitochondrial respiratory chain, Dilated cardiomyopathy, Epileptic encephalopathy, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hypertrophic cardiomyopathy, Infantile onset, Lactic acidosis, Lethargy, Leukodystrophy, Poor head control, Respiratory failure, Seizures, Spasticity, Vomiting
Endothelial	GXYLT1	0.449914707	0.000300521	Unclassified	BrainSpLMD|283464	OMIM|613321
Endothelial	MKNK2	1.393477223	0.000303265	Serine/threonine kinase	BrainSpLMD|2872	OMIM|605069
Endothelial	SPTY2D1	0.273415627	0.000304989	Unclassified	BrainSpLMD|144108	
Endothelial	MRPS28	0.302017894	0.000305235	Ribosomal subunit	BrainSpLMD|28957	OMIM|611990
Endothelial	KIAA1033	0.544586438	0.000312506			
Endothelial	C19orf53	0.544928926	0.000313459	Unclassified	BrainSpLMD|28974	
Endothelial	MEF2D	0.408285201	0.000320748	Transcription regulatory protein	BrainSpLMD|4209;BrainSpMouseDev|17030	OMIM|600663
Endothelial	PIK3C2B	0.548273358	0.00032455	Lipid Kinase	BrainSpLMD|5287	OMIM|602838
Endothelial	CNOT6L	0.251836693	0.000324611	Transcription regulatory protein	BrainSpLMD|246175;Eurexp|euxassay_003596|calyces, vibrissa	
Endothelial	GLS	0.872923309	0.000327876	Enzyme: Deaminase	BrainSpLMD|2744;BrainSpMouseDev|14436	OMIM|138280
Endothelial	DDX18	0.397609369	0.000328056	Transport/cargo protein	BrainSpLMD|8886	OMIM|606355
Endothelial	ZNF554	0.882783812	0.000329584	Transcription regulatory protein	BrainSpLMD|115196	
Endothelial	EVI5	0.731020358	0.000330715	Unclassified	BrainSpLMD|7813;Eurexp|euxassay_001717|cervical, cervico-thoracic, lobe;BrainSpMouseDev|13797	OMIM|602942
Endothelial	DDX3X	0.747802051	0.000332249	RNA helicase	BrainSpLMD|1654	SFARI||Autism, 2 - Strong candidate;OMIM|300160;COSMIC||CLL, medulloblastoma, Mental retardation, X-linked 102;HPO|1654|Generalized hypotonia, Infantile onset, Intellectual disability, X-linked dominant inheritance, X-linked recessive inheritance
Endothelial	RPIA	0.631103367	0.000333132	Enzyme: Isomerase	BrainSpLMD|22934	OMIM|180430;HPO|22934|Abnormality of metabolism/homeostasis, Ataxia, Autosomal recessive inheritance, Global developmental delay, Leukoencephalopathy, Optic atrophy, Polyneuropathy, Seizures, Sensorimotor neuropathy, Spasticity
Endothelial	UBE2D3	0.496932996	0.0003399	Ubiquitin proteasome system protein	BrainSpLMD|7323;Eurexp|euxassay_006830|embryo	OMIM|602963
Endothelial	UQCRQ	0.49599299	0.000341043	Unclassified	BrainSpLMD|27089	OMIM|612080;HPO|27089|Abnormality of extrapyramidal motor function, Absent speech, Ataxia, Athetosis, Autosomal recessive inheritance, Dystonia, Generalized hypotonia, Global developmental delay, Hyperreflexia, Increased serum lactate, Intellectual disability, Intellectual disability, severe
Endothelial	PRSS12	0.885732515	0.000343754	Serine protease	BrainSpLMD|8492;Eurexp|euxassay_015396|head mesenchyme, lower jaw, molar, nasal capsule, upper jaw;BrainSpMouseDev|18905	OMIM|606709;HPO|8492|Autosomal recessive inheritance, Babinski sign, Hyperactive deep tendon reflexes, Intellectual disability, Nystagmus, Strabismus
Endothelial	HSPD1	0.981241875	0.000344373	Heat shock protein	BrainSpLMD|3329;BrainSpMouseDev|15285	OMIM|118190;HPO|3329|Apnea, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Choreoathetosis, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hyperreflexia, Impaired vibration sensation in the lower limbs, Intellectual disability, profound, Leukodystrophy, Lower limb muscle weakness, Lower limb spasticity, Neonatal onset, Nystagmus, Postnatal microcephaly, Progressive, Progressive spasticity, Seizures, Spastic gait, Spastic paraplegia, Strabismus, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
Endothelial	HIST1H2BK	0.622226284	0.000344482	DNA binding protein	BrainSpLMD|85236	OMIM|615045
Endothelial	ZDHHC8	1.377305811	0.000345258	Enzyme: Palmitoyltransferase	BrainSpLMD|29801;Eurexp|euxassay_016524|dorsal root ganglion, mantle layer, olfactory, trigeminal V, ventricular layer	OMIM|608784
Endothelial	CALM1	0.570520004	0.0003472	Calcium binding protein	BrainSpLMD|801	OMIM|114180;HPO|801|Autosomal dominant inheritance, Cardiac arrest, Prolonged QT interval, Sudden death, Syncope, Ventricular tachycardia, Vertigo
Endothelial	RAB7A	0.39580588	0.000355397	GTPase	BrainSpLMD|7879	OMIM|602298;HPO|7879|Areflexia, Autoamputation of foot, Autosomal dominant inheritance, Axonal degeneration/regeneration, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Dystrophic toenail, Foot dorsiflexor weakness, Foot osteomyelitis, Hammertoe, Hyporeflexia, Peripheral axonal atrophy, Pes cavus, Pes planus, Steppage gait
Endothelial	TRAK2	1.491420194	0.00035918	Membrane transport protein	BrainSpLMD|66008;Eurexp|euxassay_005138|liver	OMIM|607334
Endothelial	KAT2A	2.088199735	0.000360404	Transcription regulatory protein	BrainSpLMD|2648;Eurexp|euxassay_012273|cortex, incisor, lung, mantle layer, molar, orbito-sphenoid, sublingual gland primordium, tegmentum, thymus primordium, ventral grey horn, ventricular layer	OMIM|602301
Endothelial	COPS2	0.260970241	0.000365164	Transcription regulatory protein	BrainSpLMD|9318	OMIM|604508
Endothelial	FAM65A	0.711368084	0.000369031			
Endothelial	TRIB1	0.893398114	0.000369901	Dual specificity kinase	BrainSpLMD|10221;Eurexp|euxassay_010583|cortex, mantle layer, molar, submandibular gland primordium, thymus primordium, thyroid, valve, vibrissa	OMIM|609461
Endothelial	PLLP	0.647716026	0.000376409	Integral membrane protein	BrainSpLMD|51090;Eurexp|euxassay_010491|midgut, olfactory, stomach	OMIM|600340
Endothelial	DYNC1LI2	0.637491126	0.000377139	Unclassified	BrainSpLMD|1783	OMIM|611406
Endothelial	DNAJA1	0.358008776	0.000378378	Heat shock protein	BrainSpLMD|3301	OMIM|602837
Endothelial	CCNYL1	1.573375293	0.000379221	Cell cycle control protein	BrainSpLMD|151195	
Endothelial	SRSF8	0.898185089	0.000379941	Transcription regulatory protein		OMIM|603269
Endothelial	TARS	0.427117304	0.000382923	Enzyme: Ligase	BrainSpLMD|6897;Eurexp|euxassay_006234|cortex, left, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|187790
Endothelial	EEF1D	0.444511245	0.000387558	Guanine nucleotide exchange factor	BrainSpLMD|1936	OMIM|130592
Endothelial	BCAR3	1.631113682	0.000392809	Guanine nucleotide exchange factor	BrainSpLMD|8412;Eurexp|euxassay_006211|adenohypophysis, epithelium, mantle layer, marginal layer, submandibular gland primordium, ventricular layer	OMIM|604704
Endothelial	FAM120AOS	0.40593844	0.000396427	Unclassified	BrainSpLMD|158293	
Endothelial	ATP2A2	0.33711888	0.000398196	Membrane transport protein	BrainSpLMD|488	OMIM|108740;HPO|488|Abnormality of the hair, Acrokeratosis, Anal mucosal leukoplakia, Autosomal dominant inheritance, Bipolar affective disorder, Enlargement of parotid gland, Epidermal acanthosis, Hyperkeratosis, Hypermelanotic macule, Intellectual disability, mild, Palmar pits, Palmoplantar keratoderma, Plantar pits, Pruritus, Ridged nail, Schizophrenia, Seizures, Subungual hyperkeratotic fragments
Endothelial	ZNF799	1.072064727	0.000404113	DNA binding protein	BrainSpLMD|90576;Eurexp|euxassay_016472|floorplate	
Endothelial	ATXN1	0.768682537	0.000404903	RNA binding protein	BrainSpLMD|6310;BrainSpMouseDev|20001	OMIM|601556;HPO|6310|Abnormality of extrapyramidal motor function, Adult onset, Areflexia, Autosomal dominant inheritance, Babinski sign, Bulbar palsy, Chorea, Cognitive impairment, Dilated fourth ventricle, Distal amyotrophy, Dorsal column degeneration, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Dysphagia, Gaze-evoked nystagmus, Generalized hypotonia, Genetic anticipation with paternal anticipation bias, Hyperreflexia, Impaired horizontal smooth pursuit, Impaired vibratory sensation, Limb ataxia, Olivopontocerebellar atrophy, Optic atrophy, Optic disc pallor, Progressive cerebellar ataxia, Scanning speech, Slow saccadic eye movements, Spasticity, Spinocerebellar atrophy, Spinocerebellar tract degeneration, Supranuclear ophthalmoplegia, Truncal ataxia, Urinary bladder sphincter dysfunction
Endothelial	LAMP1	1.207813223	0.000409349	Integral membrane protein	BrainSpLMD|3916;Eurexp|euxassay_015957|dorsal root ganglion, floor plate, floorplate, glossopharyngeal IX, mandible, maxilla, neural retina, orbito-sphenoid, sternum, trigeminal V, ventral grey horn, ventricular layer	OMIM|153330
Endothelial	RFXANK	0.614360609	0.000413376	Transcription factor	BrainSpLMD|8625	OMIM|603200;HPO|8625|Agammaglobulinemia, Autosomal dominant inheritance, Autosomal recessive inheritance, Biliary tract abnormality, Chronic lymphocytic meningitis, Chronic mucocutaneous candidiasis, Colitis, Cutaneous anergy, Encephalitis, Failure to thrive, Malabsorption, Neutropenia, Panhypogammaglobulinemia, Protracted diarrhea, Recurrent bacterial infections, Recurrent fungal infections, Recurrent lower respiratory tract infections, Recurrent protozoan infections, Recurrent upper respiratory tract infections, Recurrent urinary tract infections, Recurrent viral infections, Villous atrophy, Viral hepatitis
Endothelial	ITGA2	0.432489474	0.000415717	Cell surface receptor	BrainSpLMD|3673;Eurexp|euxassay_009582|medulla	OMIM|192974;HPO|3673|Autosomal dominant inheritance, Bruising susceptibility, Congenital onset, Thrombocytopenia
Endothelial	ZNF800	0.411938016	0.00041605	DNA binding protein	BrainSpLMD|168850	
Endothelial	RPS7P1	0.282754265	0.000418347			
Endothelial	PIM1	0.429457805	0.000420191	Serine/threonine kinase	BrainSpLMD|5292	OMIM|164960;COSMIC||NHL
Endothelial	ARID3A	0.475939489	0.000421177	Transcription factor	BrainSpLMD|1820	OMIM|603265
Endothelial	RRP12	0.838456884	0.000421534	Unclassified	BrainSpLMD|23223	OMIM|617723
Endothelial	GDI2	0.268427931	0.000423208	Membrane transport protein	BrainSpLMD|2665	OMIM|600767
Endothelial	BZW1	0.556877903	0.000425487	Transcription factor	BrainSpLMD|9689	
Endothelial	MAN2C1	0.309784105	0.00042668	Enzyme: Hydrolase	BrainSpLMD|4123	OMIM|154580
Endothelial	EIF3I	0.980310227	0.000428184	Translation regulatory protein	BrainSpLMD|8668;Eurexp|euxassay_008278|embryo	OMIM|603911
Endothelial	SEPW1	0.665695252	0.000429612			
Endothelial	ZFR	0.348672858	0.000433522	Transcription regulatory protein	BrainSpLMD|51663;Eurexp|euxassay_011649|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|615635
Endothelial	PRNP	0.297414468	0.000434132	Membrane bound ligand	BrainSpLMD|5621;Eurexp|euxassay_007857|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, mantle layer, metanephros, neural retina, olfactory, thoracic, tongue, trachea, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ;BrainSpMouseDev|18885	OMIM|176640;HPO|5621|Abdominal symptom, Adult onset, Aggressive behavior, Akinetic mutism, Anxiety, Apathy, Aphasia, Apnea, Apraxia, Areflexia, Astrocytosis, Ataxia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Babinski sign, Basal ganglia gliosis, Bradykinesia, Central nervous system degeneration, Cerebellar atrophy, Childhood onset, Chorea, Clumsiness, Confusion, Constipation, Deficit in phonologic short-term memory, Delusions, Dementia, Depressivity, Diffuse spongiform leukoencephalopathy, Diplopia, Dysarthria, Dysautonomia, Dysmetria, Dysphagia, EEG with persistent abnormal rhythmic activity, Emotional lability, Encephalopathy, Extrapyramidal muscular rigidity, Fever, Focal T2 hyperintense basal ganglia lesion, Gait ataxia, Gliosis, Global brain atrophy, Hallucinations, Hemiparesis, Hyperhidrosis, Hyperreflexia, Hypersomnia, Impaired smooth pursuit, Incoordination, Insomnia, Irritability, Jaw pain, Limb ataxia, Loss of facial expression, Lower limb muscle weakness, Memory impairment, Muscle weakness, Myoclonus, Neurofibrillary tangles, Neuronal loss in central nervous system, Parkinsonism, Perseveration, Personality changes, Phenotypic variability, Poor visual behavior for age, Progressive cerebellar ataxia, Progressive extrapyramidal muscular rigidity, Progressive forgetfulness, Psychosis, Rapidly progressive, Restlessness, Rigidity, Seizures, Senile plaques, Short attention span, Sleep disturbance, Slurred speech, Spastic dysarthria, Spastic hemiparesis, Spasticity, Specific learning disability, Stroke-like episode, Supranuclear gaze palsy, Tremor, Truncal ataxia, Unsteady gait, Urinary retention, Visual impairment, Weight loss
Endothelial	TBC1D9	1.212032699	0.000434222	Unclassified		
Endothelial	ZDHHC20	0.279939985	0.000435262	Unclassified	BrainSpLMD|253832	
Endothelial	PITPNA	0.534895632	0.000442201	Transport/cargo protein	BrainSpLMD|5306	OMIM|600174
Endothelial	RNF217	1.041333949	0.00044685	Integral membrane protein	BrainSpLMD|154214;Eurexp|euxassay_010804|adrenal gland, mantle layer, vertebral axis muscle system	
Endothelial	SH3BGRL2	0.634313696	0.000449177	Unclassified	BrainSpLMD|83699;BrainSpMouseDev|84435	OMIM|615678
Endothelial	VASH1	0.757225345	0.000449877	Growth inhibitory factor	BrainSpLMD|22846;Eurexp|euxassay_009040|dorsal root ganglion, glossopharyngeal IX, marginal layer, trigeminal V, vagus X	SFARI||Autism, 4 - Minimal evidence;OMIM|609011
Endothelial	SMG1P6	1.568223228	0.000452758			
Endothelial	GOLGB1	0.28291688	0.000453211	Structural protein	BrainSpLMD|2804	OMIM|602500
Endothelial	ARHGAP28	1.11398965	0.000456639	Unclassified;GTPase activating protein	BrainSpLMD|79822	OMIM|610592
Endothelial	YIPF1	1.485708891	0.0004643	Membrane transport protein	BrainSpLMD|54432	OMIM|617521
Endothelial	DENND3	3.691289237	0.000472493	Unclassified	BrainSpLMD|22898	OMIM|617503
Endothelial	RBP1	0.535810513	0.000474875	Transport/cargo protein	BrainSpLMD|5947;Eurexp|euxassay_003315|brain, corpus striatum, forelimb, hindbrain, hindlimb, mantle layer, midgut, olfactory lobe, telencephalon, turbinate bones	OMIM|180260
Endothelial	DDR2	1.650083238	0.000476927	Receptor tyrosine kinase	BrainSpLMD|4921;Eurexp|euxassay_010957|mandible, maxilla, midgut, oesophagus, stomach;BrainSpMouseDev|17981	OMIM|191311;COSMIC||squamous cell carcinoma, NSCLC, Spondylometaepiphyseal dysplasia, short limb-hand type;HPO|4921|Abnormal calcification of the carpal bones, Abnormality of the neck, Anterior rib cupping, Atlantoaxial instability, Autosomal recessive inheritance, Bell-shaped thorax, Bowing of the legs, Broad metacarpals, Broad phalanx, C1-C2 subluxation, Calcification of falx cerebri, Depressed nasal bridge, Disproportionate short-limb short stature, Elbow flexion contracture, Epiphyseal stippling, Flared iliac wings, Flared metaphysis, Frontal bossing, Generalized hypotonia, Global developmental delay, High palate, Hip subluxation, Hypertelorism, Hypoplasia of the odontoid process, Knee flexion contracture, Long fibula, Malar flattening, Metatarsus adductus, Micrognathia, Micromelia, Midface retrusion, Muscular hypotonia, Pectus excavatum, Platyspondyly, Posterior rib cupping, Progressive calcification of costochondral cartilage, Proptosis, Recurrent pneumonia, Restrictive ventilatory defect, Scoliosis, Short long bone, Short metacarpal, Short nose, Short phalanx of finger, Short ribs, Spinal cord compression, Spondyloepimetaphyseal dysplasia, Syringomyelia, Thoracic hypoplasia, Tracheal calcification, Triangular shaped distal phalanges of the hand
Endothelial	CEP68	0.633880436	0.00047994	Unclassified	BrainSpLMD|23177;Eurexp|euxassay_000074|cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, submandibular gland primordium, testis, thymus primordium, trigeminal V, ventricular layer, vibrissa	OMIM|616889
Endothelial	MBD2	1.210916424	0.000487691	Transcription regulatory protein	BrainSpLMD|8932;Eurexp|euxassay_005566|pancreas	OMIM|603547
Endothelial	IMPA1	0.692603493	0.000493515	Enzyme: Phosphatase	BrainSpLMD|3612	OMIM|602064;HPO|3612|Aggressive behavior, Autosomal recessive inheritance, Intellectual disability, Paranoia
Endothelial	CALCOCO2	2.098630657	0.000494288	Unclassified	BrainSpLMD|10241	OMIM|604587
Endothelial	CDK2	0.479228974	0.000499411	Cell cycle control protein	BrainSpLMD|1017	OMIM|116953
Endothelial	KIF9	0.825095603	0.00050091	Unclassified	BrainSpLMD|64147;Eurexp|euxassay_011006|choroid plexus	OMIM|607910
Endothelial	FTSJ2	2.534845883	0.000501892			
Endothelial	SDC3	0.510198225	0.000503778	Cell surface receptor	BrainSpLMD|9672	OMIM|186357
Endothelial	CSNK1G3	0.530789712	0.000513152	Serine/threonine kinase	BrainSpLMD|1456	OMIM|604253
Endothelial	NDUFB5	0.694651995	0.000515467	Enzyme: Oxidoreductase	BrainSpLMD|4711	OMIM|603841
Endothelial	EGR2	2.064305019	0.000520123	Transcription factor	BrainSpLMD|1959;Eurexp|euxassay_000939|vibrissa;BrainSpMouseDev|13432	SFARI||Autism, 5 - Hypothesized but untested;OMIM|129010;HPO|1959|Abnormality of the cranial nerves, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital onset, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Generalized hypotonia, Hammertoe, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Increased CSF protein, Infantile onset, Juvenile onset, Kyphoscoliosis, Motor delay, Neonatal hypotonia, Onion bulb formation, Peripheral hypomyelination, Peripheral neuropathy, Pes cavus, Segmental peripheral demyelination/remyelination, Sensory ataxia, Split hand, Steppage gait, Ulnar claw, Upper limb muscle weakness, Variable expressivity
Endothelial	KLHL4	1.230241778	0.000520536	Cytoskeletal associated protein	BrainSpLMD|56062;Eurexp|euxassay_011076|medullary stroma, ventricle	OMIM|300348
Endothelial	FILIP1L	1.784558981	0.000530874	Unclassified	BrainSpLMD|11259	OMIM|612993
Endothelial	UBE2K	0.297794502	0.000531263	Ubiquitin proteasome system protein	BrainSpLMD|3093	OMIM|602846
Endothelial	KIF13B	0.574830981	0.000539779	Motor protein	BrainSpLMD|23303;Eurexp|euxassay_016533|dorsal root ganglion, glossopharyngeal IX, trigeminal V	SFARI||Autism, No category;OMIM|607350
Endothelial	BLOC1S3	1.094032256	0.000547864	Unclassified	BrainSpLMD|388552	OMIM|609762;HPO|388552|Albinism, Autosomal recessive inheritance, Bruising susceptibility, Ocular albinism, Visual impairment
Endothelial	SNORD99	0.882577609	0.000549618			
Endothelial	EIF2AK2	0.73728044	0.000551535	Serine/threonine kinase	BrainSpLMD|5610	OMIM|176871
Endothelial	PPM1G	0.727874918	0.000558281	Serine/threonine phosphatase	BrainSpLMD|5496	OMIM|605119
Endothelial	SEC13	0.366684936	0.000558332	Transport/cargo protein	BrainSpLMD|6396;Eurexp|euxassay_004833|cranium, mandible, maxilla	OMIM|600152
Endothelial	ACKR3	1.929421374	0.000559216	G protein coupled receptor	BrainSpLMD|57007;Eurexp|euxassay_005213|atrium, calyces, capsule, cortex, mantle layer, marginal layer, medulla, meninges, mesenchyme, oesophagus, stomach, ventricle, ventricular layer	OMIM|610376;COSMIC||lipoma
Endothelial	TSC22D1	0.827083593	0.000560796	Transcription regulatory protein	BrainSpLMD|8848;BrainSpMouseDev|21566	OMIM|607715
Endothelial	ERLIN2	1.065711282	0.000571816	Unclassified	BrainSpLMD|11160	OMIM|611605;HPO|11160|Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Absent speech, Autosomal recessive inheritance, Babinski sign, Dysphagia, Gait disturbance, Gait imbalance, High palate, Hyperreflexia, Kyphosis, Loss of speech, Lower limb muscle weakness, Muscle weakness, Pes cavus, Progressive, Pseudobulbar behavioral symptoms, Scoliosis, Skeletal muscle atrophy, Slow progression, Spastic dysarthria, Spastic gait, Spastic paraplegia, Spastic tetraparesis, Strabismus, Upper limb spasticity
Endothelial	DGAT1	0.600413537	0.000572256	Enzyme: Acyltransferase		OMIM|604900;HPO|8694|Autosomal recessive inheritance, Diarrhea, Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Vomiting
Endothelial	AKAP13	0.257960493	0.00057248	Guanine nucleotide exchange factor	BrainSpLMD|11214	OMIM|604686
Endothelial	PLEKHM2	1.193137334	0.000572519	Unclassified	BrainSpLMD|23207	OMIM|609613
Endothelial	CAP1	0.983222942	0.000573763	Unclassified	BrainSpLMD|10487	
Endothelial	RGL1	0.762120236	0.000580771	Guanine nucleotide exchange factor	BrainSpLMD|23179	OMIM|605667
Endothelial	VRK2	1.810867883	0.000583129	Serine/threonine kinase	BrainSpLMD|7444;Eurexp|euxassay_011671|marginal layer	OMIM|602169
Endothelial	STX12	0.446434972	0.000585498	Membrane transport protein	BrainSpLMD|23673;Eurexp|euxassay_011670|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606892
Endothelial	MTIF3	0.31352589	0.000588409	Translation regulatory protein	BrainSpLMD|219402	
Endothelial	MT.TP	0.882629126	0.000589713			
Endothelial	ABCB9	0.514163623	0.000590117	Membrane transport protein	BrainSpLMD|23457;Eurexp|euxassay_008420|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605453
Endothelial	TAF8	0.981494071	0.000598152	Transcription factor	BrainSpLMD|129685	OMIM|609514
Endothelial	CDK2AP2	0.652306727	0.000599864	Unclassified	BrainSpLMD|10263	
Endothelial	DAB2IP	1.281114065	0.000602834	Unclassified	BrainSpLMD|153090;Eurexp|euxassay_013508|mantle layer, marginal layer	OMIM|609205
Endothelial	TPP2	0.481597679	0.000603667	Aminopeptidase	BrainSpLMD|7174	OMIM|190470;HPO|7174|Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemiparesis, Hepatitis, Lymphadenopathy, Lymphopenia, Moderate global developmental delay, Recurrent otitis media, Respiratory tract infection, Splenomegaly, Stroke, Systemic lupus erythematosus
Endothelial	SLC25A13	0.315458886	0.0006037	Calcium binding protein;Transport/cargo protein	BrainSpLMD|10165;Eurexp|euxassay_006704|adrenal gland, choroid invagination, choroid plexus, cortex, incisor, left lung, liver, midgut, olfactory, orbito-sphenoid, pancreas, rectum, right lung, stomach, submandibular gland primordium, thymus primordium, thyroid, ventricle, ventricular layer, vibrissa	OMIM|603859;HPO|10165|Autosomal recessive inheritance, Cerebral edema, Cirrhosis, Coma, Confusion, Decreased circulating high-density lipoprotein levels, Elevated hepatic transaminases, Elevated plasma citrulline, Failure to thrive, Growth delay, Hepatic steatosis, Hepatocellular carcinoma, Hyperammonemia, Hyperbilirubinemia, Hypercholesterolemia, Hypermethioninemia, Hypertriglyceridemia, Intrahepatic cholestasis, Pancreatitis
Endothelial	SAMD8	0.536545127	0.000604483	Integral membrane protein	BrainSpLMD|142891	OMIM|611575
Endothelial	EXOC8	0.281749761	0.000605884	Transport/cargo protein	BrainSpLMD|149371	OMIM|615283
Endothelial	PDPR	0.74163061	0.000610352		BrainSpLMD|55066	
Endothelial	TTC23	0.871499925	0.000611638	Unclassified	BrainSpLMD|64927	
Endothelial	TCP1	0.258037139	0.000612056	Chaperone	BrainSpLMD|6950	OMIM|186980
Endothelial	STK25	0.84202204	0.000617667	Serine/threonine kinase	BrainSpLMD|10494;Eurexp|euxassay_018643|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, testis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602255
Endothelial	PDLIM2	0.439442747	0.00061923	Adapter molecule	BrainSpLMD|64236	OMIM|609722
Endothelial	CDK9	0.496787889	0.000623435	Serine/threonine kinase	BrainSpLMD|1025	OMIM|603251
Endothelial	TAX1BP1	0.653875077	0.00062489	Transcription factor	BrainSpLMD|8887	OMIM|605326
Endothelial	SERINC3	1.362159131	0.000629003	Integral membrane protein	BrainSpLMD|10955;Eurexp|euxassay_004869|dorsal root ganglion, facial VII, glossopharyngeal IX, left, mandible, maxilla, medulla, orbito-sphenoid, right, testis, thymus primordium, trigeminal V	OMIM|607165
Endothelial	EIF3K	0.455407407	0.000629763	Translation regulatory protein	BrainSpLMD|27335	OMIM|609596
Endothelial	FAM21C	0.704683393	0.000636394			
Endothelial	STX4	1.021589774	0.000653926	Membrane transport protein	BrainSpLMD|6810	OMIM|186591
Endothelial	TMEM256	0.509691112	0.000654967	Integral membrane protein	BrainSpLMD|254863	OMIM|617779
Endothelial	CCNK	1.375657183	0.000658776	Transcription regulatory protein	BrainSpLMD|8812	OMIM|603544
Endothelial	SERTAD2	1.538304745	0.000675929	Transcription regulatory protein	BrainSpLMD|9792;Eurexp|euxassay_004566|olfactory;BrainSpMouseDev|37204	
Endothelial	NEDD8	0.379528927	0.000676525	Ubiquitin proteasome system protein	BrainSpLMD|4738	OMIM|603171
Endothelial	TMA7	0.380521689	0.000678038	Transcription factor		OMIM|615808
Endothelial	REEP5	0.665871277	0.00067915	Integral membrane protein	BrainSpLMD|7905;Eurexp|euxassay_004460|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|125265
Endothelial	F2R	0.843989159	0.000679546	G protein coupled receptor	BrainSpLMD|2149;Eurexp|euxassay_009165|mesenchyme	OMIM|187930
Endothelial	NIP7	0.558868519	0.000684687	RNA binding protein	BrainSpLMD|51388;Eurexp|euxassay_004749|brain, incisor, liver, lung, mesenchyme, metanephros, midgut, molar, olfactory, respiratory, spinal cord, submandibular gland primordium, thymus primordium, vibrissa	
Endothelial	KDM2A	0.830567636	0.000686144	Ubiquitin proteasome system protein	BrainSpLMD|22992	OMIM|605657
Endothelial	DYNC2LI1	1.173200586	0.000694362	Motor protein	BrainSpLMD|51626	OMIM|617083;HPO|51626|Abnormality of oral frenula, Abnormality of oral mucosa, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the fingernails, Abnormality of the heart valves, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Aplasia/Hypoplasia of the lungs, Atrial septal defect, Atrioventricular canal defect, Autosomal recessive inheritance, Brachydactyly, Capitate-hamate fusion, Cone-shaped epiphysis, Conical incisor, Cryptorchidism, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Epispadias, Failure to thrive, Foot polydactyly, Genu valgum, Hand polydactyly, Hepatomegaly, Horizontal ribs, Hypodontia, Hypoplastic toenails, Hypospadias, Intrauterine growth retardation, Low-set ears, Microdontia, Micromelia, Nail dysplasia, Narrow chest, Neonatal short-limb short stature, Polyhydramnios, Postaxial hand polydactyly, Respiratory insufficiency, Short distal phalanx of finger, Short foot, Short ribs, Short stature, Short thorax, Situs inversus totalis, Skeletal dysplasia, Splenomegaly, Strabismus, Ventricular septal defect
Endothelial	PEX13	0.741623185	0.000711727	Integral membrane protein	BrainSpLMD|5194	OMIM|601789;HPO|5194|Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the liver, Abnormality of the palate, Anteverted nares, Apnea, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, CNS hypomyelination, Cataract, Central hypotonia, Chorioretinal abnormality, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Death in infancy, Decreased liver function, Depressed nasal bridge, Developmental regression, Dolichocephaly, EEG abnormality, Elevated hepatic transaminases, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Global developmental delay, Hearing impairment, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypospadias, Infantile muscular hypotonia, Jaundice, Large face, Lissencephaly, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Multiple renal cysts, Muscular hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Polymicrogyria, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Respiratory insufficiency, Respiratory tract infection, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Skeletal dysplasia, Spasticity, Strabismus, Triangular face, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Very long chain fatty acid accumulation, Visual impairment, Visual loss, Wide anterior fontanel, Wide nasal bridge
Endothelial	SKI	1.834007896	0.000714752	Transcription factor	BrainSpLMD|6497	OMIM|164780;COSMIC||melanoma;HPO|6497|Abdominal wall muscle weakness, Abnormality of the pinna, Absent speech, Agenesis of corpus callosum, Anteverted nares, Aortic dilatation, Arachnodactyly, Arnold-Chiari type I malformation, Autism, Autosomal dominant inheritance, Brachycephaly, Brachydactyly, C1-C2 vertebral abnormality, Camptodactyly, Camptodactyly of finger, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Conductive hearing impairment, Constipation, Craniosynostosis, Deeply set eye, Delayed cranial suture closure, Dental malocclusion, Depressed nasal bridge, Depressed nasal ridge, Dislocated radial head, Dolichocephaly, Downslanted palpebral fissures, Dysphagia, EEG abnormality, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Frontal bossing, Gait disturbance, Gastroesophageal reflux, Generalized hypotonia, Genu recurvatum, Global developmental delay, High-grade hypermetropia, Horizontal eyebrow, Hydrocephalus, Hyperextensible skin, Hypertelorism, Hypoplasia of the maxilla, Intellectual disability, Joint contracture of the hand, Joint laxity, Lateral clavicle hook, Long philtrum, Low-set, posteriorly rotated ears, Metaphyseal widening, Metatarsus adductus, Microcephaly, Micrognathia, Midface retrusion, Minimal subcutaneous fat, Mitral valve prolapse, Muscular hypotonia, Myopia, Narrow mouth, Narrow palate, Obstructive sleep apnea, Osteopenia, Pectus carinatum, Pectus excavatum, Pes planus, Pointed chin, Poor speech, Ptosis, Scoliosis, Seizures, Self-injurious behavior, Shallow orbits, Short foot, Sporadic, Stereotypy, Strabismus, Supernumerary ribs, Talipes equinovarus, Telecanthus, Thin ribs, Umbilical hernia, Ventriculomegaly, Wide anterior fontanel, Wide nasal bridge
Endothelial	PACSIN2	0.580166658	0.000717866	Adapter molecule	BrainSpLMD|11252	OMIM|604960
Endothelial	STX16	0.365342701	0.000719393	Transport/cargo protein	BrainSpLMD|8675;Eurexp|euxassay_014483|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vestibulocochlear VIII	OMIM|603666;HPO|8675|Autosomal dominant inheritance, Cataract, Delayed eruption of teeth, Depressed nasal bridge, Elevated circulating parathyroid hormone level, Full cheeks, Hyperphosphatemia, Hypocalcemia, Hypoplasia of dental enamel, Low urinary cyclic AMP response to PTH administration, Nystagmus, Pseudohypoparathyroidism, Round face, Short neck, Short stature, Sporadic
Endothelial	MBD1	0.532515186	0.00071951	Transcription regulatory protein	BrainSpLMD|4152	SFARI||Autism, 4 - Minimal evidence;OMIM|156535
Endothelial	GALM	0.444816302	0.000720461	Enzyme: Epimerase	BrainSpLMD|130589;Eurexp|euxassay_000580|olfactory	OMIM|137030
Endothelial	NEIL1	0.934237796	0.000721656	DNA binding protein	BrainSpLMD|79661	OMIM|608844
Endothelial	GAB1	0.836631138	0.000726052	Adapter molecule	BrainSpLMD|2549	OMIM|604439
Endothelial	NFAT5	1.076811191	0.000726415	Transcription factor	BrainSpLMD|10725;BrainSpMouseDev|33737	OMIM|604708
Endothelial	CTNND1	0.413604909	0.000731076	Adhesion molecule	BrainSpLMD|1500;BrainSpMouseDev|12173	OMIM|601045;COSMIC||large intestine carcinoma
Endothelial	NEBL	0.963064331	0.000733295	Cytoskeletal associated protein	BrainSpLMD|10529	OMIM|605491;HPO|10529|Dilated cardiomyopathy
Endothelial	NUDCD1	0.748607521	0.000753756	Unclassified	BrainSpLMD|84955	OMIM|606109
Endothelial	ARPC3P5	0.465184206	0.000764586			
Endothelial	RAB5A	0.522340226	0.00076585	GTPase	BrainSpLMD|5868	OMIM|179512
Endothelial	MOSPD2	0.281816326	0.000771011	Integral membrane protein	BrainSpLMD|158747;Eurexp|euxassay_014284|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate, vault of skull	
Endothelial	TM9SF3	0.291018726	0.000779245	Membrane transport protein	BrainSpLMD|56889	OMIM|616872
Endothelial	SERPING1	1.504278053	0.000781816	Protease inhibitor	BrainSpLMD|710	OMIM|606860;HPO|710|Abdominal pain, Abnormality of salivation, Abnormality of the larynx, Angioedema, Autoimmunity, Autosomal dominant inheritance, Dermatographic urticaria, Diarrhea, Dysphagia, Edema of the dorsum of hands, Erythema, Facial edema, Intestinal edema, Laryngeal edema, Limbal edema, Nausea, Paresthesia, Peripheral axonal neuropathy, Pharyngeal edema, Systemic lupus erythematosus, Tongue edema, Vomiting
Endothelial	RP11.498C9.15	0.276229062	0.000782161			
Endothelial	TEX264	0.448441502	0.000783931	Secreted polypeptide	BrainSpLMD|51368	
Endothelial	CD83	0.784379402	0.000820097	Unclassified	BrainSpLMD|9308	OMIM|604534
Endothelial	ACVR1	2.000528449	0.000825151	Receptor serine/threonine kinase	BrainSpLMD|90;Eurexp|euxassay_001869|vibrissa;BrainSpMouseDev|11265	OMIM|102576;COSMIC||DIPG, Fibrodysplasia ossificans progressiva;HPO|90|Abnormal vertebral morphology, Abnormality of the first metatarsal bone, Alopecia, Aplasia/Hypoplasia of the phalanges of the hallux, Autosomal dominant inheritance, Broad femoral neck, Clinodactyly of the 5th finger, Conductive hearing impairment, Ectopic ossification in ligament tissue, Ectopic ossification in muscle tissue, Ectopic ossification in tendon tissue, Hallux valgus, Hearing impairment, Limitation of joint mobility, Metaphyseal widening, Progressive cervical vertebral spine fusion, Respiratory failure, Respiratory insufficiency, Scoliosis, Sensorineural hearing impairment, Short 1st metacarpal, Short hallux, Small cervical vertebral bodies, Spinal rigidity, Subcutaneous nodule, Widely spaced teeth
Endothelial	HIST1H2AC	0.688759905	0.000831547	DNA binding protein	BrainSpLMD|8334	OMIM|602794
Endothelial	TYW3	0.864747141	0.000831586	Unclassified	BrainSpLMD|127253	OMIM|611245
Endothelial	MFHAS1	0.914950998	0.00083661	Unclassified	BrainSpLMD|9258;Eurexp|euxassay_014051|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vibrissa	OMIM|605352
Endothelial	ZNHIT6	0.296420564	0.000866044	Unclassified	BrainSpLMD|54680	
Endothelial	NDUFC1	0.376674338	0.000885452	Unclassified	BrainSpLMD|4717	OMIM|603844
Endothelial	DNAJC17	1.259067283	0.000886664	Unclassified	BrainSpLMD|55192	OMIM|616844
Endothelial	PSMB5	0.560858556	0.000894618	Ubiquitin proteasome system protein	BrainSpLMD|5693;Eurexp|euxassay_005692|embryo	OMIM|600306
Endothelial	EMC8	0.608846442	0.000896049	Unclassified	BrainSpLMD|10328;Eurexp|euxassay_000557|associated mesenchyme, brain, incisor, tooth, ventricular layer	OMIM|604886
Endothelial	RCBTB2	0.528079016	0.000896412	Guanine nucleotide exchange factor	BrainSpLMD|1102	OMIM|603524
Endothelial	AGTRAP	1.749017861	0.000902583	Unclassified	BrainSpLMD|57085	OMIM|608729
Endothelial	OXSR1	1.016580976	0.000904646	Serine/threonine kinase	BrainSpLMD|9943	OMIM|604046
Endothelial	STAT1	1.086173478	0.000909082	Transcription factor	BrainSpLMD|6772;Eurexp|euxassay_004660|axial muscle, mantle layer, skeletal muscle, thymus primordium;BrainSpMouseDev|20608	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600555;HPO|6772|Arterial calcification, Autoimmune hemolytic anemia, Autosomal dominant inheritance, Autosomal recessive inheritance, B lymphocytopenia, Bronchiectasis, Carotid artery dilatation, Chronic mucocutaneous candidiasis, Delayed puberty, Delayed skeletal maturation, Diarrhea, Dilatation of the cerebral artery, Eczema, Enterocolitis, Functional abnormality of the bladder, Generalized osteoporosis, Hepatosplenomegaly, Herpes simplex encephalitis, Immune dysregulation, Immunodeficiency, Incomplete penetrance, Lymphopenia, Osteopenia, Phenotypic variability, Primary hypothyroidism, Recurrent mycobacterial infections, Recurrent respiratory infections, Recurrent upper respiratory tract infections, Renal artery stenosis, Renovascular hypertension, Short stature, Susceptibility to herpesvirus, Thyroiditis, Type I diabetes mellitus, Villous atrophy
Endothelial	DUSP7	1.42420383	0.000912541	Dual specificity phosphatase	BrainSpLMD|1849	OMIM|602749
Endothelial	TWSG1	0.303611959	0.000914435	Secreted polypeptide	BrainSpLMD|57045	OMIM|605049
Endothelial	ARPC2	0.785467583	0.000915809	Cytoskeletal associated protein	BrainSpLMD|10109	OMIM|604224
Endothelial	RP11.16E18.3	0.75422451	0.000916332			
Endothelial	PABPC1	0.638330124	0.000918674	RNA binding protein	Eurexp|euxassay_005676|embryo	OMIM|604679;COSMIC||HNSCC, biliary tract carcinoma
Endothelial	EEF1B2	0.27510889	0.000927293	Translation regulatory protein	BrainSpLMD|1933	OMIM|600655
Endothelial	UFC1	0.951914069	0.0009309	Unclassified	BrainSpLMD|51506;Eurexp|euxassay_000654|chondrocranium	OMIM|610554
Endothelial	CPNE5	1.217341035	0.000931095	Transport/cargo protein	BrainSpLMD|57699	OMIM|604209
Endothelial	PRSS23	0.83702018	0.000933814	Serine protease	BrainSpLMD|11098;Eurexp|euxassay_007251|axial skeleton, incisor, metanephros, physiological umbilical hernia, turbinate bones	
Endothelial	KLF11	0.342241181	0.00093631	Transcription factor	BrainSpLMD|8462	OMIM|603301;HPO|8462|Autosomal dominant inheritance, Maturity-onset diabetes of the young, Type II diabetes mellitus
Endothelial	DACH1	0.906652909	0.000947584	Transcription regulatory protein	BrainSpLMD|1602;Eurexp|euxassay_012739|associated mesenchyme, bladder, calyces, cortex, dermis, dorsal root ganglion, facial VII, left lung, mantle layer, meninges, midgut, olfactory, oral region, pelvis, penis, retina, right lung, stomach, thymus primordium, trigeminal V, ureter, urethra, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|12914	OMIM|603803
Endothelial	AURKAIP1	1.720753509	0.000955971	Enzyme regulator;Cell cycle control protein		OMIM|609183
Endothelial	CST3	0.279783079	0.000957399	Protease inhibitor	BrainSpLMD|1471;Eurexp|euxassay_004853|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|12793	OMIM|604312;HPO|1471|Autosomal dominant inheritance, Cerebral amyloid angiopathy, Cerebral hemorrhage, Dementia, Generalized amyloid deposition, Intracranial hemorrhage, Stroke
Endothelial	PELI1	0.573236241	0.000961171	Adapter molecule	BrainSpLMD|57162;Eurexp|euxassay_011663|cortex, forebrain, hindbrain, incisor, lung, marginal layer, midbrain, molar, neural retina, olfactory, spinal cord, submandibular gland primordium, thymus primordium, vibrissa, vomeronasal organ	OMIM|614797
Endothelial	PCCA	0.997850166	0.000965545	Enzyme: Carboxylase	BrainSpLMD|5095;Eurexp|euxassay_018934|marginal layer, nucleus pulposus, orbito-sphenoid, submandibular gland primordium, ventricular layer, vibrissa	SFARI||Autism, No category;OMIM|232000;HPO|5095|Abnormality of immune system physiology, Acute encephalopathy, Anemia, Apnea, Arrhythmia, Autosomal recessive inheritance, Cardiomyopathy, Cerebral atrophy, Coma, Constipation, Dehydration, Dystonia, Eczema, Failure to thrive, Feeding difficulties in infancy, Global developmental delay, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Hyperglycinuria, Hypoglycemia, Intellectual disability, Lactic acidosis, Lethargy, Limb hypertonia, Metabolic acidosis, Muscular hypotonia of the trunk, Neutropenia, Organic aciduria, Osteoporosis, Pancreatitis, Pancytopenia, Poor appetite, Propionyl-CoA carboxylase deficiency, Seizures, Short stature, Tachypnea, Thrombocytopenia, Vomiting
Endothelial	TMED10	0.652778941	0.000967269	Integral membrane protein	BrainSpLMD|10972	OMIM|605406
Endothelial	ERGIC3	0.951359719	0.000983287	Unclassified	BrainSpLMD|51614	OMIM|616971
Endothelial	LTN1	0.721698305	0.000996507	Ubiquitin proteasome system protein	BrainSpLMD|26046	OMIM|613083
Endothelial	PSMB6	0.456888501	0.001010733	Ubiquitin proteasome system protein	BrainSpLMD|5694	OMIM|600307
Endothelial	ETFA	0.819083575	0.001016488	Membrane transport protein	BrainSpLMD|2108;Eurexp|euxassay_002051|thymus primordium, ventricular layer	OMIM|608053;HPO|2108|Abnormal facial shape, Abnormality of the genital system, Abnormality of the pinna, Autosomal recessive inheritance, Congenital cataract, Defective dehydrogenation of isovaleryl CoA and butyryl CoA, Depressed nasal bridge, Electron transfer flavoprotein-ubiquinone oxidoreductase defect, Ethylmalonic aciduria, Generalized aminoaciduria, Gliosis, Glutaric acidemia, Glutaric aciduria, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, High forehead, Hypoglycemia, Hypoglycemic coma, Jaundice, Macrocephaly, Muscle weakness, Muscular hypotonia, Nausea, Neonatal death, Pachygyria, Polycystic kidney dysplasia, Proximal tubulopathy, Pulmonary hypoplasia, Renal cortical cysts, Respiratory distress, Telecanthus, Vomiting, Wide anterior fontanel
Endothelial	CHMP2B	0.734530355	0.001023661	Transport/cargo protein	BrainSpLMD|25978;Eurexp|euxassay_017077|dorsal grey horn, intermediate grey horn, mantle layer, ventral grey horn, ventricular layer, vibrissa	OMIM|609512;HPO|25978|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Adult onset, Aggressive behavior, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apathy, Apraxia, Areflexia, Astrocytosis, Autosomal dominant inheritance, Babinski sign, Bulbar signs, Cerebral cortical atrophy, Collectionism, Depressivity, Disinhibition, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphagia, Dysphasia, Dyspnea, Dystonia, EEG with continuous slow activity, Echolalia, Emotional blunting, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontal release signs, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait disturbance, Generalized muscle weakness, Grammar-specific speech disorder, Hyperorality, Hyperreflexia, Hyporeflexia, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Muscle cramps, Mutism, Myoclonus, Neurodegeneration, Neuronal loss in central nervous system, Orofacial dyskinesia, Pain, Paralysis, Perseveration, Personality changes, Poor speech, Rapidly progressive, Respiratory failure, Respiratory insufficiency due to muscle weakness, Restlessness, Restrictive behavior, Rigidity, Skeletal muscle atrophy, Spasticity, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold, Urinary incontinence, Xerostomia
Endothelial	NDUFB3	0.776752842	0.001027024	Enzyme: Oxidoreductase	BrainSpLMD|4709	OMIM|603839;HPO|4709|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
Endothelial	MBD6	0.469048631	0.001031067	DNA binding protein	BrainSpLMD|114785	SFARI||Autism, No category
Endothelial	EIF3G	0.334085297	0.001032413	Translation regulatory protein	BrainSpLMD|8666	SFARI||Autism, 4 - Minimal evidence;OMIM|603913
Endothelial	GSTO2	0.774873857	0.001039407	Enzyme: Glutathione transferase	BrainSpLMD|119391	OMIM|612314
Endothelial	TMF1	0.441318985	0.001040402	Transcription factor	BrainSpLMD|7110;Eurexp|euxassay_016101|mandible, maxilla	OMIM|601126
Endothelial	CTC.499B15.6	0.824786253	0.001064898			
Endothelial	NT5DC1	0.817614804	0.001071201	Unclassified	BrainSpLMD|221294	
Endothelial	FLCN	0.885640864	0.00107157	Unclassified	BrainSpLMD|201163	OMIM|607273;COSMIC||renal, fibrofolliculomas, trichodiscomas;HPO|201163|Abnormal renal morphology, Abnormality of abdomen morphology, Abnormality of retinal pigmentation, Abnormality of the cardiovascular system, Abnormality of the hair, Abnormality of the pleura, Autism, Autosomal dominant inheritance, Broad forehead, Delayed myelination, Dental crowding, Dental malocclusion, Downslanted palpebral fissures, Dysphasia, EEG abnormality, Echolalia, Emphysema, Expressive language delay, Failure to thrive, Feeding difficulties in infancy, Fibrofolliculoma, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hearing impairment, Hereditary nonpolyposis colorectal carcinoma, High palate, Hyperactivity, Hypermetropia, Hypertelorism, Hypocholesterolemia, Hypoplasia of the corpus callosum, Incomplete penetrance, Intellectual disability, mild, Language impairment, Mandibular prognathia, Microcephaly, Micrognathia, Multiple lipomas, Neoplasm of the stomach, Oral-pharyngeal dysphagia, Papule, Patent foramen ovale, Phenotypic variability, Pneumothorax, Poor eye contact, Prominent nasal tip, Pulmonary sequestration, Receptive language delay, Renal cell carcinoma, Renal cyst, Scoliosis, Seizures, Short stature, Skin tags, Sleep apnea, Small for gestational age, Smooth philtrum, Spontaneous pneumothorax, Sporadic, Stereotypy, Transitional cell carcinoma of the bladder, Triangular face, Trigonocephaly, Uterine leiomyosarcoma, Wide mouth
Endothelial	C18orf21	1.089493779	0.001087417	Unclassified	BrainSpLMD|83608	
Endothelial	UQCC2	0.421274162	0.00109344	Unclassified	BrainSpLMD|84300;Eurexp|euxassay_000835|basal plate, epidermal component, facial VII, submandibular gland primordium, trigeminal V, ventricular layer	OMIM|614461;HPO|84300|Aggressive behavior, Autosomal recessive inheritance, Cryptorchidism, Depressed nasal bridge, Epicanthus, Global developmental delay, Hyperactivity, Infantile onset, Intrauterine growth retardation, Metabolic acidosis, Neonatal hypotonia, Poor speech, Postaxial polydactyly, Proximal renal tubular acidosis, Seizures, Synophrys, Upslanted palpebral fissure
Endothelial	ABCA1	0.818676691	0.001106748	Transport/cargo protein	BrainSpLMD|19;Eurexp|euxassay_009354|brain, spinal cord, ventricular layer	OMIM|600046;HPO|19|Abdominal pain, Abnormality of the liver, Accelerated atherosclerosis, Anemia, Autosomal dominant inheritance, Autosomal recessive inheritance, Blurred vision, Chronic noninfectious lymphadenopathy, Corneal opacity, Coronary artery stenosis, Decreased circulating high-density lipoprotein levels, Distal amyotrophy, Distal muscle weakness, Dry skin, EMG abnormality, Ectropion, Facial diplegia, Hemiplegia/hemiparesis, Hepatomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Hyporeflexia, Impaired pain sensation, Impaired temperature sensation, Left ventricular hypertrophy, Lymphadenopathy, Myocardial infarction, Nail dysplasia, Nail dystrophy, Opacification of the corneal stroma, Orange discoloured tonsils, Peripheral axonal neuropathy, Peripheral demyelination, Progressive peripheral neuropathy, Splenomegaly, Visual impairment, Xanthomatosis
Endothelial	AC018738.2	0.327993081	0.001107397			
Endothelial	NHP2L1	0.429769982	0.001107475			
Endothelial	ANAPC16	0.625309444	0.001122929	Unclassified	BrainSpLMD|119504	OMIM|613427
Endothelial	SCAF11	0.545637327	0.001127989	RNA binding protein	BrainSpLMD|9169;Eurexp|euxassay_014100|ventricle, ventricular layer	OMIM|603668
Endothelial	CLK1	0.282809867	0.001128888	Dual specificity kinase	BrainSpLMD|1195	OMIM|601951
Endothelial	NEDD4	1.248347327	0.001141638	Ubiquitin proteasome system protein	BrainSpLMD|4734;Eurexp|euxassay_018441|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|602278
Endothelial	TRAF5	0.777667135	0.001142521	Adapter molecule	BrainSpLMD|7188;Eurexp|euxassay_011407|skeletal muscle, wall	OMIM|602356
Endothelial	RAP1A	0.737400697	0.001147756	GTPase	BrainSpLMD|5906	OMIM|179520;HPO|5906|Abnormal dermatoglyphics, Abnormality of the cardiac septa, Butterfly vertebrae, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Conductive hearing impairment, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Hemivertebrae, High palate, Highly arched eyebrow, Hydrocephalus, Hypodontia, Joint hyperflexibility, Long eyelashes, Macrotia, Microcephaly, Microdontia, Muscular hypotonia, Protruding ear, Ptosis, Recurrent infections, Scoliosis, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Sparse lateral eyebrow, Strabismus, Ventriculomegaly, Widely spaced teeth
Endothelial	FAM118B	1.301033415	0.001148482	Unclassified	BrainSpLMD|79607;Eurexp|euxassay_000543|central nervous system	OMIM|616587
Endothelial	EPB41L2	0.998578918	0.001157334	Cytoskeletal protein	BrainSpLMD|2037;Eurexp|euxassay_010082|calyces, clavicle, femur, fibula, fundus region, lens, lung, mandible, maxilla, meninges, olfactory, orbito-sphenoid, pelvis, rib, roof plate, tibia, ureter	OMIM|603237
Endothelial	RP11.153M3.1	0.912784385	0.001167305			
Endothelial	SAP18	1.050668634	0.001168131	Transcription regulatory protein	BrainSpLMD|10284	OMIM|602949
Endothelial	MRPS10	0.733524633	0.001187566	Ribosomal subunit	BrainSpLMD|55173	OMIM|611976
Endothelial	CCDC80	0.507411131	0.001205269	Unclassified	BrainSpLMD|151887	OMIM|608298
Endothelial	FBRS	1.09331951	0.001233409	Cytokine	BrainSpLMD|64319	OMIM|608601
Endothelial	TP53I3	1.198433967	0.001237643	Cell cycle control protein	BrainSpLMD|9540	OMIM|605171
Endothelial	SERBP1	0.316040851	0.001251041	RNA binding protein	BrainSpLMD|26135	OMIM|607378
Endothelial	GULP1	0.727509514	0.00125543	Adapter molecule	BrainSpLMD|51454	OMIM|608165
Endothelial	BBS9	0.493829291	0.001268492	Unclassified	BrainSpLMD|27241;Eurexp|euxassay_003475|3rd ventricle, 4th ventricle, adenohypophysis, cervical, cervico-thoracic, choroid invagination, choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, naris, neural retina, olfactory, pharyngo-tympanic tube, respiratory, stroma, thoracic, trigeminal V, vagus X	OMIM|607968;HPO|27241|Abnormal electroretinogram, Autosomal recessive inheritance, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Multicystic kidney dysplasia, Nystagmus, Obesity, Pigmentary retinopathy, Polydactyly, Postaxial hand polydactyly, Rod-cone dystrophy, Short stature, Variable expressivity
Endothelial	AC000089.3	0.381195587	0.001272701			
Endothelial	PDK1	0.719454573	0.001273603	Enzyme: Phosphotransferase	BrainSpLMD|5163;Eurexp|euxassay_018748|axial skeleton, foregut-midgut junction, hindgut, incisor, mesenchyme, midgut, molar, orbito-sphenoid, rectum, stomach, thymus primordium, turbinate, urethra, ventricular layer, vibrissa	OMIM|602524
Endothelial	APLP2	1.003319789	0.001274232	Integral membrane protein	BrainSpLMD|334;Eurexp|euxassay_004667|axial muscle, fundus region, submandibular gland primordium, urethra, ventral grey horn, vibrissa	OMIM|104776
Endothelial	LAMTOR4	0.349448175	0.001310495	Unclassified		
Endothelial	CSNK1A1	0.295518508	0.001313151	Serine/threonine kinase	BrainSpLMD|1452;BrainSpMouseDev|60339	OMIM|600505
Endothelial	RP4.706A16.3	0.497717857	0.00131902			
Endothelial	PSMC1	0.470723414	0.001327826	Ubiquitin proteasome system protein		OMIM|602706
Endothelial	NOSIP	1.331414293	0.001328024	Transport/cargo protein	BrainSpLMD|51070	OMIM|616759
Endothelial	SRGAP2C	1.066962898	0.001334089			OMIM|614704
Endothelial	SNHG12	0.523987447	0.001335137	Unclassified		
Endothelial	RP4.592A1.2	0.267572189	0.001352345			
Endothelial	ACTR8	0.874311076	0.001369442	Cytoskeletal protein	BrainSpLMD|93973	
Endothelial	GGCX	0.550310944	0.001378129	Enzyme: Carboxylase	BrainSpLMD|2677	OMIM|137167;HPO|2677|Abnormal bleeding, Abnormality of coagulation, Abnormality of the optic nerve, Absent retinal pigment epithelium, Angioid streaks of the retina, Atherosclerosis, Attenuation of retinal blood vessels, Autosomal recessive inheritance, Bruising susceptibility, Cutis laxa, Epiphyseal stippling, Epistaxis, Increased number of skin folds, Joint hemorrhage, Nyctalopia, Papule, Prolonged partial thromboplastin time, Reduced factor IX activity, Reduced factor VII activity, Reduced factor X activity, Reduced prothrombin activity, Redundant skin, Rod-cone dystrophy, Short distal phalanx of finger, Short nose, Strabismus
Endothelial	ADAMTS4	1.215942664	0.001400262	Metallo protease	BrainSpLMD|9507;Eurexp|euxassay_004320|vibrissa	OMIM|603876
Endothelial	ETHE1	0.685328292	0.001401295	Unclassified	BrainSpLMD|23474	OMIM|608451;HPO|23474|Abnormality of extrapyramidal motor function, Abnormality of the retinal vasculature, Ataxia, Autosomal recessive inheritance, Chronic diarrhea, Cytochrome C oxidase-negative muscle fibers, Developmental regression, Encephalopathy, Ethylmalonic aciduria, Failure to thrive, Focal T2 hyperintense basal ganglia lesion, Generalized hypotonia, Global developmental delay, Intellectual disability, Lactic acidosis, Petechiae, Seizures
Endothelial	STRN	1.031005971	0.001420913	Unclassified	BrainSpLMD|6801	OMIM|614765;COSMIC||anaplastic thyroid, papillary thyroid, lung
Endothelial	SCARB2	0.466892318	0.001427503	Cell surface receptor	BrainSpLMD|950;Eurexp|euxassay_009131|embryo	OMIM|602257;HPO|950|Abdominal pain, Anemia, Anorexia, Aseptic necrosis, Autosomal recessive inheritance, Bone pain, Bruising susceptibility, Cerebellar atrophy, Delayed puberty, Delayed skeletal maturation, Dysarthria, Dysphagia, EEG with polyspike wave complexes, Focal segmental glomerulosclerosis, Gait ataxia, Generalized seizures, Gingival bleeding, Hepatomegaly, Hypersplenism, Increased bone mineral density, Intention tremor, Kyphosis, Limb ataxia, Morning myoclonic jerks, Myoclonus, Nephropathy, Nephrotic syndrome, Osteolysis, Osteopenia, Pancytopenia, Postural tremor, Proteinuria, Rapidly progressive, Renal insufficiency, Splenomegaly, Thrombocytopenia
Endothelial	PPP4R1L	1.181549389	0.001433212	-		
Endothelial	KXD1	0.538465799	0.001439126	Unclassified	BrainSpLMD|79036	OMIM|615178
Endothelial	RP11.325O24.5	0.826580314	0.001452455			
Endothelial	TCEB1	0.377752612	0.001467775			
Endothelial	PPP1R10	0.547794256	0.001481561	Serine/threonine phosphatase	BrainSpLMD|5514	OMIM|603771
Endothelial	TXN	0.337849259	0.001505973	Enzyme: Reductase	Eurexp|euxassay_000861|basal plate, skeleton, submandibular gland primordium	OMIM|187700
Endothelial	COX20	0.335346545	0.001518401	Unclassified	BrainSpLMD|116228	OMIM|614698;HPO|116228|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
Endothelial	SP1	0.961920749	0.001522418	Transcription factor	BrainSpLMD|6667	OMIM|189906
Endothelial	RP11.420K8.1	0.289377699	0.001526094			
Endothelial	SORT1	0.883797296	0.001550778	Cell surface receptor	BrainSpLMD|6272;BrainSpMouseDev|20423	OMIM|602458
Endothelial	PPID	0.898318402	0.001552559	Enzyme: Isomerase	BrainSpLMD|5481;Eurexp|euxassay_005718|embryo	OMIM|601753
Endothelial	DPY19L4	1.354113738	0.001555336	Unclassified	BrainSpLMD|286148	OMIM|613895
Endothelial	ZNF281	0.601783281	0.001555937	Transcription regulatory protein	BrainSpLMD|23528;Eurexp|euxassay_007265|fundus region, lung, urethra, vertebral axis muscle system	
Endothelial	MAPKAPK5.AS1	0.42968919	0.00155999			
Endothelial	DNTTIP2	0.294165203	0.001575529	DNA binding protein	BrainSpLMD|30836	OMIM|611199
Endothelial	RPL7A	0.595326219	0.00158444	Ribosomal subunit	Eurexp|euxassay_005917|embryo	OMIM|185640
Endothelial	RAPGEF2	0.644330903	0.00158651	Guanine nucleotide exchange factor	BrainSpLMD|9693;Eurexp|euxassay_014449|olfactory	OMIM|609530
Endothelial	RP11.3P17.3	0.453486319	0.001590435			
Endothelial	RPLP1	0.778485438	0.001611895	Ribosomal subunit		OMIM|180520
Endothelial	MTRF1L	0.614370511	0.001622063	Translation regulatory protein	BrainSpLMD|54516	OMIM|613542
Endothelial	MAGED2	1.12176688	0.001633179	Unclassified	BrainSpLMD|10916	OMIM|300470;HPO|10916|Fetal polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Hyponatremia, Increased circulating renin level, Medullary nephrocalcinosis, Polyhydramnios, Polyuria, Premature birth, X-linked recessive inheritance
Endothelial	SAP30BP	0.550713098	0.001642533	Transcription regulatory protein	BrainSpLMD|29115;Eurexp|euxassay_003056|submandibular gland primordium	OMIM|610218
Endothelial	LMBRD1	0.713374259	0.001647007	Integral membrane protein	BrainSpLMD|55788	OMIM|612625;HPO|55788|Ataxia, Autosomal recessive inheritance, Cystathioninemia, Cystathioninuria, Decreased adenosylcobalamin, Decreased methionine synthase activity, Decreased methylcobalamin, Developmental regression, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Glossitis, High palate, Homocystinuria, Hyperhomocystinemia, Incoordination, Infantile onset, Lethargy, Low-set ears, Megaloblastic anemia, Megaloblastic bone marrow, Methylmalonic acidemia, Methylmalonic aciduria, Microtia, Muscular hypotonia, Neutropenia, Pancytopenia, Psychosis, Seizures, Skin rash, Stomatitis, Thin upper lip vermilion, Thrombocytopenia
Endothelial	MRPL51	0.344201713	0.001664788	Ribosomal subunit	BrainSpLMD|51258	OMIM|611855
Endothelial	UHMK1	0.475925642	0.001683858	RNA binding protein	BrainSpLMD|127933	OMIM|608849
Endothelial	ALAS1	0.273058417	0.001684018	Enzyme: Synthase	BrainSpLMD|211;Eurexp|euxassay_009192|liver, medulla	OMIM|125290
Endothelial	RPL36	0.291985426	0.001691217	Ribosomal subunit	BrainSpLMD|25873	
Endothelial	PLP2	0.872661491	0.001694081	Ion channel	BrainSpLMD|5355;Eurexp|euxassay_004091|Meckel's cartilage, cranium, fundus, stomach	OMIM|300112
Endothelial	PBDC1	0.376204576	0.001699065	Unclassified	BrainSpLMD|51260	
Endothelial	CHCHD1	0.569440321	0.001713244	Unclassified	BrainSpLMD|118487;Eurexp|euxassay_007424|embryo	OMIM|608842
Endothelial	EYA3	0.548810579	0.001714251	Tyrosine phosphatase	BrainSpLMD|2140	OMIM|601655
Endothelial	PRDX1	0.287693285	0.001726311	Enzyme: Peroxidase	BrainSpLMD|5052	OMIM|176763
Endothelial	NOLC1	0.338113112	0.0017386	Transcription factor	BrainSpLMD|9221	OMIM|602394
Endothelial	PRDX3	0.361350697	0.001743543	Enzyme: Peroxidase	BrainSpLMD|10935;Eurexp|euxassay_006583|adrenal gland, liver, ovary, thymus primordium, thyroid	OMIM|604769
Endothelial	RP11.16F15.2	0.690841459	0.001746955			
Endothelial	EXOC2	0.698549735	0.001807924	Membrane transport protein	BrainSpLMD|55770	OMIM|615329
Endothelial	AGPAT1	0.562603433	0.001807943	Enzyme: Acyltransferase	BrainSpLMD|10554	OMIM|603099
Endothelial	BRE	1.272101649	0.001824105			
Endothelial	TMEM30A	0.579762038	0.001845435	Integral membrane protein	BrainSpLMD|55754	OMIM|611028
Endothelial	SLC12A2	1.380231681	0.00184731	Membrane transport protein	BrainSpLMD|6558;Eurexp|euxassay_008837|cortex, incisor, left lung, midgut, olfactory, pharyngo-tympanic tube, rectum, right lung, stomach, submandibular gland primordium;BrainSpMouseDev|20258	OMIM|600840
Endothelial	GPX7	0.669803483	0.001861631	Enzyme: Peroxidase	BrainSpLMD|2882;Eurexp|euxassay_018909|alimentary system, alveolar sulcus, anterior, arachnoid mater, associated mesenchyme, axial skeleton, central nervous system, cerebral cortex, cervical region, choroid invagination, choroid plexus, clavicle, dermal component, dermis, duodenum, dura mater, embryo, epidermal component, epidermis, epithelium, external, foregut, foregut-midgut junction, fundus, gut, hindgut, intervertebral disc, intrinsic, lip, lower jaw, lumbar region, mandible, masseter, meninges, mesenchyme, midgut, naris, nasal cavity, nose, nucleus pulposus, olfactory, palatal shelf, pectoral girdle and thoracic body wall, physiological umbilical hernia, pia mater, pineal primordium, respiratory, rest of midgut, rest of skin, rib, rostral part, scapula, skeleton, stomach, temporal bone, thoracic region, transverse component, turbinate bones, upper jaw, vertebral axis muscle system, vertebral cartilage condensation, vertical component, vibrissa, visceral organ	OMIM|615784
Endothelial	CTSL	0.98400478	0.001872764	Cysteine protease	BrainSpLMD|1514	OMIM|116880
Endothelial	COPZ1	0.443381835	0.001873331	Transport/cargo protein	BrainSpLMD|22818	OMIM|615472
Endothelial	TIPARP	0.378344607	0.001873405	DNA binding protein	BrainSpLMD|25976	OMIM|612480
Endothelial	MT.TL1	0.636195649	0.001889013			
Endothelial	HSPE1	0.593769472	0.001892556	Heat shock protein	BrainSpLMD|3336	OMIM|600141
Endothelial	HSP90B2P	1.771890277	0.001896689			
Endothelial	SMYD3	1.363423788	0.001925364	Enzyme: Methyltransferase	BrainSpLMD|64754	OMIM|608783
Endothelial	TXNRD1	0.291323568	0.001930426	Enzyme: Oxidoreductase	BrainSpLMD|7296;Eurexp|euxassay_018922|axial muscle, clavicle, dorsal root ganglion, incisor, liver, lung, mandible, mantle layer, maxilla, molar, neural retina, olfactory, pancreas, pharyngo-tympanic tube, rib, submandibular gland primordium, thymus primordium, thyroid, ventral grey horn, ventricular layer, vibrissa	OMIM|601112
Endothelial	MCTS1	0.684980017	0.001932213	Cell cycle control protein	BrainSpLMD|28985	OMIM|300587
Endothelial	URB1	0.752123282	0.00194298	Unclassified		OMIM|608865
Endothelial	MTPN	0.946505687	0.00194759	Cell cycle control protein		OMIM|606484
Endothelial	CXXC5	0.607177855	0.001949045	DNA binding protein	BrainSpLMD|51523	OMIM|612752
Endothelial	NDUFS8	0.415456454	0.001978522	Enzyme: Oxidoreductase	BrainSpLMD|4728	OMIM|602141;HPO|4728|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
Endothelial	CREBRF	0.655785972	0.001978707	DNA binding protein	BrainSpLMD|153222	OMIM|617109
Endothelial	PPP2R1B	0.562828849	0.001979253	Regulatory/other subunit;Serine/threonine phosphatase	BrainSpLMD|5519;Eurexp|euxassay_012306|incisor, mantle layer, molar, submandibular gland primordium, thymus primordium	SFARI||Autism, 4 - Minimal evidence;OMIM|603113;HPO|5519|Alveolar cell carcinoma, Autosomal recessive inheritance
Endothelial	C1orf198	1.211950449	0.001997677	Unclassified	BrainSpLMD|84886;Eurexp|euxassay_016413|dorsal root ganglion, neural retina, ventral grey horn, ventricular layer	
Endothelial	TFG	0.283568955	0.002016645	Enzyme regulator	BrainSpLMD|10342	OMIM|602498;COSMIC||papillary thyroid, ALCL, NSCLC, extraskeletal myxoid chondrosarcoma;HPO|10342|Abnormal myelination, Abnormality of peripheral nerve conduction, Abnormality of the Achilles tendon, Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Difficulty climbing stairs, Difficulty standing, Distal lower limb amyotrophy, Distal sensory impairment, Fasciculations, Gait disturbance, Gliosis, Hyperlipidemia, Hyperreflexia, Inability to walk, Mildly elevated creatine phosphokinase, Motor polyneuropathy, Optic atrophy, Peripheral neuropathy, Proximal amyotrophy, Proximal muscle weakness, Sensorimotor neuropathy, Sensory neuropathy, Slow progression, Spastic paraplegia, Tetraplegia, Visual loss
Endothelial	UPF2	0.889449129	0.002020047	RNA binding protein	BrainSpLMD|26019	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605529
Endothelial	SHQ1	1.193795664	0.002022943	Unclassified	BrainSpLMD|55164;Eurexp|euxassay_012345|olfactory, submandibular gland primordium, ventricular layer	OMIM|613663
Endothelial	PIBF1	0.294283396	0.002027503	Transcription factor	BrainSpLMD|10464;Eurexp|euxassay_002784|oesophagus	OMIM|607532
Endothelial	ATP5I	0.27770964	0.002042366			
Endothelial	EMC3	1.632279231	0.002055883	Integral membrane protein	BrainSpLMD|55831	
Endothelial	VAMP4	0.604243602	0.002096238	Membrane transport protein	BrainSpLMD|8674	OMIM|606909
Endothelial	ATF6	0.948770485	0.002096963	Transcription factor	BrainSpLMD|22926;BrainSpMouseDev|86447	OMIM|605537;HPO|22926|Abnormal electroretinogram, Autosomal recessive inheritance, Dyschromatopsia, Exotropia, Hypermetropia, Pendular nystagmus, Photophobia, Visual impairment
Endothelial	NPTN	0.52752498	0.002109185	Immunoglobulin	BrainSpLMD|27020	OMIM|612820
Endothelial	SNORD100	1.279170492	0.002111183			
Endothelial	ARPC4	0.504774048	0.002117444	Cytoskeletal associated protein	Eurexp|euxassay_002361|dorsal root ganglion	OMIM|604226
Endothelial	HSPD1P1	0.75240326	0.002119395			
Endothelial	RP11.267J23.4	0.478866045	0.002128706			
Endothelial	NXT1	0.976684017	0.002132097	Transport/cargo protein	BrainSpLMD|29107;Eurexp|euxassay_001534|cortex, dorsal root ganglion, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|605811
Endothelial	RPP38	0.935151876	0.002132828	Ribonucleoprotein	BrainSpLMD|10557	OMIM|606116
Endothelial	BTBD1	0.621996032	0.002157	Unclassified	BrainSpLMD|53339	OMIM|608530
Endothelial	GANAB	0.924826001	0.002163576	Enzyme: Hydrolase	BrainSpLMD|23193	OMIM|104160;HPO|23193|Autosomal dominant inheritance, Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia, Variable expressivity
Endothelial	C10orf32	0.392931694	0.002170653			
Endothelial	ARL5A	0.752716638	0.002196684	GTPase	Eurexp|euxassay_002854|basal plate, cochlear component, dorsal root ganglion, facial VII, glossopharyngeal IX, inferior, lobe, superior, trigeminal V, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|608960
Endothelial	PTGES3	0.457986712	0.002197775	Chaperone		OMIM|607061
Endothelial	SUPT6H	1.167691775	0.002219682	Transcription factor	BrainSpLMD|6830	OMIM|601333
Endothelial	RP11.297L17.6	0.440504534	0.002220347			
Endothelial	SPAG7	0.253927985	0.002234055	Unclassified	BrainSpLMD|9552	OMIM|610056
Endothelial	SIKE1	1.319519744	0.002234625	Unclassified	BrainSpLMD|80143;Eurexp|euxassay_012757|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, ventricle, vestibulocochlear VIII	OMIM|611656
Endothelial	UBE2L6	0.286014005	0.002235608	Ubiquitin proteasome system protein	BrainSpLMD|9246;Eurexp|euxassay_013712|liver	OMIM|603890
Endothelial	RPL3P4	0.602241367	0.002240164			
Endothelial	ARL15	0.701117656	0.002266908	GTPase	BrainSpLMD|54622	
Endothelial	SLC41A1	1.344459195	0.002267628	Membrane transport protein	BrainSpLMD|254428;Eurexp|euxassay_012144|meninges, ventricular layer	OMIM|610801
Endothelial	DDX49	1.688285064	0.002272727	RNA helicase	BrainSpLMD|54555	
Endothelial	TAF13	0.544837312	0.002275626	Transcription factor	BrainSpLMD|6884;Eurexp|euxassay_001598|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, submandibular gland primordium, trigeminal V, vagus X;BrainSpMouseDev|63900	OMIM|600774;HPO|6884|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Delayed puberty, Delayed skeletal maturation, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Small for gestational age, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vesicoureteral reflux
Endothelial	NIPSNAP3A	0.27311548	0.002279358	Transport/cargo protein	BrainSpLMD|25934	OMIM|608871
Endothelial	PDLIM5	0.474485672	0.002290253	Adapter molecule	BrainSpLMD|10611;Eurexp|euxassay_011640|alar columns, axial skeleton, bladder, choroid plexus, clavicle, dorsal grey horn, floor plate, floorplate, mesenchyme, metanephros, midgut, oesophagus, stomach, submandibular gland primordium, trachea, urethra, ventral grey horn, ventricular layer	OMIM|605904
Endothelial	ARMCX6	1.683538287	0.002304632	Unclassified	BrainSpLMD|54470	
Endothelial	C21orf91	1.336307229	0.00234598	Unclassified	BrainSpLMD|54149;Eurexp|euxassay_005119|cranial muscle, footplate, incisor, lip, marginal layer, molar, thymus primordium, ventricular layer, vibrissa	
Endothelial	TEAD1	1.119290926	0.00234652	Transcription factor	BrainSpLMD|7003;BrainSpMouseDev|21437	OMIM|189967;HPO|7003|Astigmatism, Autosomal dominant inheritance, Myopia, Peripapillary chorioretinal atrophy, Slow progression
Endothelial	TNS3	0.567364691	0.002362597	Integral membrane protein;Cell surface receptor	BrainSpLMD|64759;Eurexp|euxassay_014013|axial skeleton, ductus deferens, exoccipital bone, mandible, maxilla, mesenchyme, nasal septum, orbito-sphenoid, spleen primordium, trachea, turbinate, vibrissa	OMIM|606825
Endothelial	RP11.69L16.5	0.575720303	0.002373127			
Endothelial	ASXL1	0.643387969	0.00238127	Transcription regulatory protein	BrainSpLMD|171023	OMIM|612990;COSMIC||MDS, CMML, Bohring-Opitz syndrome;HPO|171023|Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Abnormality of the optic nerve, Abnormality of the pancreas, Accessory oral frenulum, Agenesis of corpus callosum, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Biparietal narrowing, Broad alveolar ridges, Broad palm, Camptodactyly, Camptodactyly of finger, Cerebral cortical atrophy, Cleft palate, Cleft upper lip, Convex nasal ridge, Dandy-Walker malformation, Death in infancy, Deep palmar crease, Deep plantar creases, Delayed peripheral myelination, Dislocated radial head, Elbow dislocation, Facial hemangioma, Failure to thrive, Feeding difficulties, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Heterotopia, Hirsutism, Hyperechogenic pancreas, Hypertelorism, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, profound, Intellectual disability, severe, Intestinal malrotation, Intrauterine growth retardation, Limitation of joint mobility, Long face, Low anterior hairline, Low-set ears, Mesomelic/rhizomelic limb shortening, Microcephaly, Micrognathia, Myelodysplasia, Myopia, Narrow chest, Narrow forehead, Narrow palate, Nevus flammeus, Nevus flammeus of the forehead, Overlapping toe, Platyspondyly, Polyhydramnios, Posteriorly rotated ears, Prominent forehead, Prominent metopic ridge, Proptosis, Retinopathy, Retrognathia, Sacral dimple, Seizures, Short thorax, Short toe, Somatic mutation, Strabismus, Supernumerary nipple, Syndactyly, Synophrys, Tapered finger, Thick hair, Trigonocephaly, Ulnar deviation of finger, Ulnar deviation of the wrist, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Vesicoureteral reflux, Wide intermamillary distance, Wide nasal bridge
Endothelial	TMEM135	0.941790317	0.002403772	Unclassified	BrainSpLMD|65084	OMIM|616360
Endothelial	MRPS7	0.404786044	0.002419874	Ribosomal subunit	BrainSpLMD|51081	OMIM|611974
Endothelial	TECRP1	0.372494288	0.002466199			
Endothelial	TNFRSF21	1.197077411	0.002466239	Cell surface receptor	BrainSpLMD|27242;Eurexp|euxassay_012361|anterior, brain, calyces, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, lip, meninges, mesenchyme, olfactory, pelvis, posterior, right lung, spinal cord, stomach, trigeminal V, ureter, utricle, vagus X, vestibulocochlear VIII	OMIM|605732
Endothelial	GGNBP2	0.850255836	0.002502788	DNA binding protein	BrainSpLMD|79893	OMIM|612275
Endothelial	KBTBD3	0.53452897	0.002524512	Unclassified	BrainSpLMD|143879	
Endothelial	TGFBRAP1	0.36441674	0.002596814	Chaperone	BrainSpLMD|9392	OMIM|606237
Endothelial	ABCA5	0.984458815	0.002599781	Membrane transport protein	BrainSpLMD|23461	OMIM|612503;HPO|23461|Coarse facial features, Delayed eruption of teeth, EEG abnormality, Generalized hirsutism, Gingival fibromatosis, Gingival overgrowth
Endothelial	CTNNAL1	0.327297786	0.002612192	Unclassified	BrainSpLMD|8727	OMIM|604785
Endothelial	ZFPM2	1.08539874	0.002631249	Transcription regulatory protein	BrainSpLMD|23414;Eurexp|euxassay_009941|mantle layer;BrainSpMouseDev|22519	OMIM|603693;HPO|23414|Abnormal nasal morphology, Abnormal sex determination, Abnormality of the labia, Abnormality of the scrotum, Ambiguous genitalia, Autosomal dominant inheritance, Azoospermia, Brachydactyly, Broad forehead, Clinodactyly of the 5th finger, Clitoral hypertrophy, Congenital diaphragmatic hernia, Cryptorchidism, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Dolichocephaly, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,XY karyotype, Fused labia minora, Gonadal dysgenesis, Gynecomastia, Hypergonadotropic hypogonadism, Hypoplasia of the vagina, Hypospadias, Intrauterine growth retardation, Male infertility, Micropenis, Osteoporosis, Preauricular pit, Primary amenorrhea, Proptosis, Sex reversal, Sparse axillary hair, Sparse pubic hair, Streak ovary, Tetralogy of Fallot, Thin vermilion border, Underdeveloped supraorbital ridges, Urogenital sinus anomaly, Vanishing testis
Endothelial	TBPL1	0.349467671	0.002647365	Transcription factor	BrainSpLMD|9519;Eurexp|euxassay_019419|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|605521
Endothelial	STX6	1.484191039	0.002675944	Membrane transport protein	BrainSpLMD|10228	OMIM|603944
Endothelial	ECH1	0.292078253	0.00268611	Enzyme: Hydratase	BrainSpLMD|1891	OMIM|600696
Endothelial	LAMTOR2	1.118096323	0.002695393	Unclassified	BrainSpLMD|28956	OMIM|610389;HPO|28956|Autosomal recessive inheritance, Coarse facial features, Hypopigmentation of hair, Hypopigmentation of the skin, IgM deficiency, Immunodeficiency, Neutropenia, Partial albinism, Recurrent bronchopulmonary infections, Short stature
Endothelial	MPDZ	0.652039308	0.002721062	Cell junction protein	BrainSpLMD|8777;Eurexp|euxassay_012184|marginal layer, neural retina, olfactory, ventricular layer	OMIM|603785;HPO|8777|Autosomal recessive inheritance, Communicating hydrocephalus, Congenital onset, Cortical gyral simplification, Intellectual disability, Macrocephaly, Seizures
Endothelial	ARF4	0.3365089	0.00273053	Transport/cargo protein	BrainSpLMD|378;Eurexp|euxassay_000003|arm, associated mesenchyme, axial skeleton, basal columns, clavicle, dermal component, diaphragm, dorsal root ganglion, duodenum, epidermal component, epithelium, facial VII, femur, floor plate, floorplate, foregut, forelimb, frontal bone primordium, glandular mucous membrane, hindlimb, hypoglossal XII, intervertebral disc, leg, limb, lower jaw, mandible, medullary raphe, mesenchyme, nasal capsule, nasal cavity, nasal septum, neural retina, nose, oculomotor III, olfactory, oral epithelium, oral region, pectoral girdle and thoracic body wall, petrous part, pons, skeleton, spinal cord, stomach, stroma, submandibular gland primordium, tibia, trigeminal V, turbinate bones, vagus X, vertebral cartilage condensation, vibrissa	OMIM|601177
Endothelial	TBC1D15	0.485998367	0.002736418	GTPase activating protein	BrainSpLMD|64786	OMIM|612662
Endothelial	TSPAN18	1.040002725	0.002738242	Integral membrane protein	BrainSpLMD|90139;Eurexp|euxassay_002400|ventricular layer	
Endothelial	NCKAP1	0.634250809	0.002796473	Integral membrane protein	BrainSpLMD|10787;Eurexp|euxassay_009378|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|30368	SFARI||Autism, 2 - Strong candidate;OMIM|604891
Endothelial	EFR3A	1.057574288	0.002804223	Unclassified		SFARI||Autism, 3 - Suggestive evidence;OMIM|611798
Endothelial	EEF1A1P5	0.557572674	0.002827997			
Endothelial	CNRIP1	0.672484743	0.00283015	Unclassified	BrainSpLMD|25927	
Endothelial	PHYH	0.279832606	0.002830661	Enzyme: Hydroxylase	BrainSpLMD|5264;Eurexp|euxassay_004803|adenohypophysis, dorsal root ganglion, glossopharyngeal IX, left, left lung, loop, right, right lung, stomach, submandibular gland primordium, trigeminal V, vagus X, ventricle	OMIM|602026;HPO|5264|Abnormal pyramidal signs, Abnormality of epiphysis morphology, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Anosmia, Arrhythmia, Ataxia, Autosomal recessive inheritance, Cardiomegaly, Cardiomyopathy, Cataract, Congestive heart failure, Developmental regression, Dry skin, Elevated levels of phytanic acid, Hammertoe, Hemiplegia/hemiparesis, Hyporeflexia, Ichthyosis, Increased CSF protein, Intellectual disability, severe, Limb muscle weakness, Miosis, Multiple epiphyseal dysplasia, Muscular hypotonia, Nail dysplasia, Nyctalopia, Nystagmus, Peripheral neuropathy, Pes cavus, Ptosis, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Sensorimotor neuropathy, Sensorineural hearing impairment, Sensory impairment, Short fourth metatarsal, Short metacarpal, Skeletal dysplasia, Skeletal muscle atrophy, Splenomegaly, Visual impairment
Endothelial	SLC43A2	0.335173915	0.002841555	Transport/cargo protein	BrainSpLMD|124935;Eurexp|euxassay_019695|cervical, cervico-thoracic, dorsal root ganglion, ductus deferens, facial VII, glossopharyngeal IX, lung, medulla, metanephros, neural retina, olfactory, pancreas, thoracic, trigeminal V, urethra, vagus X, ventricular layer, vomeronasal organ	OMIM|610791
Endothelial	ABT1	0.3246336	0.002843787	Transcription factor	BrainSpLMD|29777;Eurexp|euxassay_007592|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|29936	
Endothelial	RPL27	0.298992169	0.002879884	Ribosomal subunit		OMIM|607526;HPO|6155|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Anemia, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Macrocytic anemia, Migraine, Pallor, Pulmonic stenosis
Endothelial	DIS3	0.613638101	0.002880628	RNA binding protein	BrainSpLMD|22894;Eurexp|euxassay_001502|cortex, thymus primordium, ventricular layer	OMIM|607533
Endothelial	BAZ2A	0.805956551	0.002946035	Transcription regulatory protein	BrainSpLMD|11176	OMIM|605682
Endothelial	G3BP1	0.603715913	0.002953268	RNA binding protein;Ribonuclease	BrainSpLMD|10146	OMIM|608431
Endothelial	NKAP	0.468166816	0.002955246	Unclassified	BrainSpLMD|79576	OMIM|300766
Endothelial	ZBTB11	0.30570018	0.002959258	DNA binding protein	BrainSpLMD|27107	
Endothelial	DCP2	0.324112094	0.003027973	RNA binding protein	BrainSpLMD|167227	OMIM|609844
Endothelial	WARS	0.298847356	0.003039186	Enzyme: Ligase	BrainSpLMD|7453	OMIM|191050
Endothelial	UFM1	0.438968045	0.003047356	Unclassified	BrainSpLMD|51569	OMIM|610553
Endothelial	C1orf85	0.900161308	0.003084136			
Endothelial	MLX	1.271607546	0.003084414	Transcription regulatory protein;Transcription factor	BrainSpLMD|6945;BrainSpMouseDev|21189	OMIM|602976;HPO|6945|Abnormal pattern of respiration, Abnormality of the aortic valve, Anemia, Anorexia, Arthritis, Chest pain, Dilatation, Dilatation of the ascending aorta, Fatigue, Fever, Gangrene, Hyperhidrosis, Hypertensive crisis, Hypertrophic cardiomyopathy, Inflammatory abnormality of the eye, Migraine, Muscle weakness, Myalgia, Myocardial infarction, Pulmonary arterial hypertension, Seizures, Skin ulcer, Subcutaneous nodule, Vasculitis, Weight loss
Endothelial	GRHPR	1.015954826	0.003092056	Enzyme: Reductase	BrainSpLMD|9380;Eurexp|euxassay_000601|adrenal gland	OMIM|604296;HPO|9380|Aminoaciduria, Autosomal recessive inheritance, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Variable expressivity
Endothelial	JAGN1	0.307353949	0.003128037	Integral membrane protein	BrainSpLMD|84522;Eurexp|euxassay_001570|basisphenoid bone, dorsal root ganglion, orbito-sphenoid, submandibular gland primordium, turbinate	OMIM|616012;HPO|84522|Autosomal recessive inheritance, Neutropenia, Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections
Endothelial	ARF3	0.936257659	0.003130473	G protein	BrainSpLMD|377	OMIM|103190
Endothelial	ZDHHC3	1.493486363	0.003131382	Integral membrane protein	BrainSpLMD|51304	OMIM|617150
Endothelial	SNRPA1	0.895898391	0.003134204	Ribonucleoprotein	BrainSpLMD|6627;Eurexp|euxassay_002737|adrenal gland, calyces, dorsal root ganglion, lobe, oesophagus, olfactory, submandibular gland primordium, thymus primordium	OMIM|603521
Endothelial	PFN1P1	0.436009589	0.00315159			
Endothelial	METTL23	0.59599351	0.003187297	Unclassified		OMIM|615262;HPO|124512|Autosomal recessive inheritance, Cognitive impairment, Global developmental delay, Infantile onset, Intellectual disability, Variable expressivity
Endothelial	ENO1	0.450131022	0.003195406	Enzyme: Hydratase	BrainSpLMD|2023	OMIM|172430
Endothelial	SEC24D	0.575004748	0.003204906	Transport/cargo protein	BrainSpLMD|9871;Eurexp|euxassay_010979|marginal layer	OMIM|607186;HPO|9871|Abnormal form of the vertebral bodies, Abnormality of dental enamel, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the voice, Autosomal recessive inheritance, Blue sclerae, Bowing of the long bones, Communicating hydrocephalus, Coronal craniosynostosis, Crumpled long bones, Delayed eruption of teeth, Downslanted palpebral fissures, Frontal bossing, High palate, High pitched voice, Hydrocephalus, Hypertelorism, Intrauterine growth retardation, Kyphosis, Lambdoidal craniosynostosis, Macrocephaly, Micrognathia, Microretrognathia, Midface retrusion, Muscular hypotonia, Oligohydramnios, Osteopenia, Pectus excavatum, Platyspondyly, Postnatal growth retardation, Proptosis, Recurrent fractures, Scoliosis, Short stature, Skeletal dysplasia, Thin ribs, Triangular face, Turricephaly, Wormian bones
Endothelial	C21orf59	0.83209033	0.003235155	Unclassified	BrainSpLMD|56683;Eurexp|euxassay_006908|cerebral cortex, choroid invagination, choroid plexus, olfactory, roof plate	OMIM|615494;HPO|56683|Autosomal recessive inheritance, Bronchiectasis, Chronic bronchitis, Ciliary dyskinesia, Infertility, Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Reduced sperm motility, Respiratory insufficiency due to defective ciliary clearance, Rhinitis, Sinusitis, Situs inversus totalis
Endothelial	RPL23AP82	0.28820012	0.003264739		BrainSpLMD|284942	
Endothelial	HSD17B10	0.781802986	0.003278954	Enzyme: Dehydrogenase	BrainSpLMD|3028	OMIM|300256;HPO|3028|Abnormality of movement, Aggressive behavior, Agitation, Arachnodactyly, Behavioral abnormality, Broad-based gait, Cerebral cortical atrophy, Choreoathetosis, Delayed speech and language development, Developmental regression, Dysarthria, Generalized hypotonia, Global developmental delay, Hallucinations, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Infantile axial hypotonia, Infantile onset, Intellectual disability, Lactic acidosis, Lumbar hyperlordosis, Metabolic acidosis, Motor delay, Nystagmus, Optic atrophy, Phenotypic variability, Progressive neurologic deterioration, Psychosis, Retinal degeneration, Seizures, Sensorineural hearing impairment, Spastic tetraplegia, Spasticity, Visual loss, X-linked dominant inheritance, X-linked recessive inheritance
Endothelial	RWDD2B	0.91335536	0.003329841	Unclassified;Enzyme: Phosphatase	BrainSpLMD|10069	
Endothelial	AUP1	0.906578944	0.003340973	Unclassified	BrainSpLMD|550	OMIM|602434
Endothelial	ZNFX1	0.262568736	0.003343132	Transcription regulatory protein	BrainSpLMD|57169	
Endothelial	ARHGEF7	0.328316026	0.00335326	Guanine nucleotide exchange factor	BrainSpLMD|8874	OMIM|605477
Endothelial	YIF1B	0.665739224	0.003360254	Integral membrane protein	BrainSpLMD|90522	
Endothelial	NBEAL1	0.31124078	0.003368483	Unclassified	BrainSpLMD|65065	OMIM|609816
Endothelial	WDR83OS	0.474844704	0.003413865	Integral membrane protein	BrainSpLMD|51398	
Endothelial	VKORC1	0.438735814	0.00342339	Enzyme: Reductase;Coagulation factor	BrainSpLMD|79001;Eurexp|euxassay_000753|Meckel's cartilage, chondrocranium, incisor, molar	OMIM|608547;HPO|79001|Abnormal bleeding, Abnormality of blood and blood-forming tissues, Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Autosomal recessive inheritance, Reduced factor IX activity, Reduced factor VII activity, Reduced factor X activity, Reduced prothrombin activity
Endothelial	GCC2	0.408189953	0.00346072	Structural protein	BrainSpLMD|9648	OMIM|612711
Endothelial	DISP1	1.260512188	0.00353172	Integral membrane protein	Eurexp|euxassay_015897|phalanx	OMIM|607502
Endothelial	LYRM5	0.875693328	0.003564137			
Endothelial	COX17	0.493557493	0.003605873	Chaperone		OMIM|604813
Endothelial	ACTB	0.556314493	0.00367757	Cytoskeletal protein	BrainSpLMD|60;BrainSpMouseDev|11250	OMIM|102630;HPO|60|Abnormality of metabolism/homeostasis, Achalasia, Agenesis of corpus callosum, Anteverted nares, Aortic valve stenosis, Aphasia, Autosomal dominant inheritance, Autosomal recessive inheritance, Bicuspid aortic valve, Blindness, Cataract, Cerebral cortical hemiatrophy, Chorioretinal coloboma, Cleft palate, Cleft upper lip, Coarse facial features, Cryptorchidism, Death in early adulthood, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Dysphagia, Dysphasia, Echolalia, Epicanthus, Euryblepharon, Externally rotated hips, Failure to thrive, Feeding difficulties, Full cheeks, Generalized dystonia, Generalized hypotonia, Global developmental delay, Growth delay, Heterochromia iridis, High forehead, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplastic scapulae, Immunodeficiency, Intellectual disability, Intellectual disability, mild, Iris coloboma, Joint stiffness, Kyphoscoliosis, Kyphosis, Large fontanelles, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Macroglossia, Macrogyria, Mental deterioration, Microcephaly, Micrognathia, Micromelia, Micropenis, Mild global developmental delay, Mutism, Oral cleft, Osteochondrosis, Overfolded helix, Pachygyria, Patent ductus arteriosus, Pointed chin, Polymicrogyria, Postnatal growth retardation, Prominent epicanthal folds, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Scoliosis, Seizures, Sensorineural hearing impairment, Short columella, Short neck, Short nose, Short stature, Skeletal dysplasia, Small for gestational age, Specific learning disability, Subcortical cerebral atrophy, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Trigonocephaly, Wide mouth, Wide nasal bridge, Wide nose
Endothelial	TMSB10	0.568509455	0.003704276	Cytoskeletal associated protein	BrainSpLMD|9168	OMIM|188399
Endothelial	TIMM10	0.252463506	0.00372416	Chaperone	BrainSpLMD|26519	OMIM|602251
Endothelial	KLF3	1.113467456	0.003778501	Transcription regulatory protein	BrainSpLMD|51274	OMIM|609392
Endothelial	RP3.375P9.2	0.527407902	0.003782767			
Endothelial	RPL9P7	0.664021825	0.003834263			
Endothelial	TNIP1	0.504459012	0.003837428	Anchor protein	BrainSpLMD|10318;Eurexp|euxassay_004808|thymus primordium	OMIM|607714
Endothelial	ALKBH5	1.024246431	0.003902758	Unclassified	BrainSpLMD|54890	OMIM|613303
Endothelial	SOCS2	1.692126262	0.004025558	Adapter molecule	BrainSpLMD|8835	OMIM|605117
Endothelial	RANBP2	0.524705327	0.004050941	Transport/cargo protein	BrainSpLMD|5903;Eurexp|euxassay_016512|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|601181;COSMIC||inflammatory myofibroblastic tumour
Endothelial	TSC22D2	0.466654345	0.004074559	Unclassified	BrainSpLMD|9819	OMIM|617724
Endothelial	RAI14	0.462201512	0.004081764	Unclassified	BrainSpLMD|26064;Eurexp|euxassay_015953|axial muscle, clavicle, floor plate, floorplate, incisor, lung, mandible, maxilla, metanephros, orbito-sphenoid, palatal shelf, penis, physiological umbilical hernia, rib, roof plate, turbinate, ventricular layer	OMIM|606586
Endothelial	NDUFB9	0.651074838	0.004093406	Enzyme: Oxidoreductase	BrainSpLMD|4715	OMIM|601445;HPO|4715|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
Endothelial	RP11.2B6.2	0.873305472	0.004118762			
Endothelial	SLC10A1	1.641093365	0.004119081	Membrane transport protein	BrainSpLMD|6554	OMIM|182396
Endothelial	AC007969.5	0.309399118	0.004130548			
Endothelial	RP2	0.389322797	0.004144618	Structural protein	BrainSpLMD|6102;Eurexp|euxassay_014375|lung, olfactory	OMIM|300757;HPO|6102|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Blindness, Cataract, Chorioretinal degeneration, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Myopia, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge, X-linked inheritance
Endothelial	C9orf3	2.334857137	0.004148963	Aminopeptidase	BrainSpLMD|84909	
Endothelial	SELM	1.153205521	0.004182387			
Endothelial	PLEKHA3	0.30863181	0.004195865	Adapter molecule	BrainSpLMD|65977;Eurexp|euxassay_007085|incisor, mandible, maxilla, orbito-sphenoid, rib, submandibular gland primordium, ventricular layer	OMIM|607774
Endothelial	CALM2P2	1.209021881	0.004222892			
Endothelial	SH3D19	1.418144412	0.00422608	Unclassified	Eurexp|euxassay_012615|choroid plexus, hindgut, metanephros, midgut, olfactory, stomach	OMIM|608674
Endothelial	CLDND1	0.736026928	0.004255168	Unclassified	BrainSpLMD|56650;Eurexp|euxassay_006238|embryo	
Endothelial	MYEOV2	0.392483263	0.004265997			
Endothelial	RP11.803B1.8	0.832551577	0.004296226			
Endothelial	GGPS1	0.572546	0.004324822	Enzyme: Prenyltransferase	BrainSpLMD|9453	OMIM|606982
Endothelial	HECW2	0.963418373	0.004340548	Ubiquitin proteasome system protein		SFARI||Autism, 3 - Suggestive evidence;OMIM|617245;HPO|57520|Abnormal facial shape, Autosomal dominant inheritance, Bulbous nose, Cerebral atrophy, Depressed nasal bridge, EEG abnormality, Epicanthus, Intellectual disability, Macrotia, Midface retrusion, Nasogastric tube feeding, Nystagmus, Recurrent hand flapping, Seizures, Self-injurious behavior, Sparse eyebrow, Telecanthus, Thick eyebrow, Thick lower lip vermilion, Wide mouth
Endothelial	TCEAL8	0.744978612	0.004347178	Unclassified	BrainSpLMD|90843	
Endothelial	NFU1	0.58445706	0.004361137	Unclassified	BrainSpLMD|27247	OMIM|608100;HPO|27247|Autosomal recessive inheritance, Decreased activity of mitochondrial respiratory chain, Failure to thrive, Feeding difficulties, Global developmental delay, Lactic acidosis, Lethargy, Muscle weakness, Pulmonary arterial hypertension, Respiratory failure
Endothelial	ANXA7	1.54778185	0.004397071	Calcium binding protein	BrainSpLMD|310	OMIM|186360
Endothelial	ZNF823	0.496261789	0.004428881	Transcription factor		
Endothelial	SPCS2P4	0.364779466	0.004490405			
Endothelial	NBR1	1.136835422	0.004496121	Unclassified	BrainSpLMD|4077	OMIM|166945
Endothelial	GBA2	0.370782577	0.004524913	Enzyme: Glucosidase	BrainSpLMD|57704;Eurexp|euxassay_000053|cerebellum, cerebral cortex, corpus striatum, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, lateral wall, mantle layer, marginal layer, neural retina, rest of alar plate, tegmentum, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|609471;HPO|57704|Ankle clonus, Autosomal recessive inheritance, Babinski sign, Cataract, Cerebellar atrophy, Cerebral atrophy, Dysarthria, Hypoplasia of the corpus callosum, Jerky ocular pursuit movements, Knee clonus, Limb dysmetria, Lower limb muscle weakness, Nystagmus, Pes cavus, Progressive, Slow progression, Spastic gait, Spastic paraplegia, Upper limb spasticity, Urinary incontinence
Endothelial	GLCE	0.282598812	0.004532852	Enzyme: Epimerase	BrainSpLMD|26035;Eurexp|euxassay_014583|lip	OMIM|612134
Endothelial	NSMCE1	0.451448976	0.004547348	Unclassified	BrainSpLMD|197370	OMIM|617263
Endothelial	CTD.2647L4.4	0.731687698	0.004648469			
Endothelial	SNX17	0.798146376	0.004649705	Adapter molecule	BrainSpLMD|9784	OMIM|605963
Endothelial	RP1.278E11.3	0.303725423	0.004653088			
Endothelial	ARHGEF6	1.212065157	0.00466043	Guanine nucleotide exchange factor	BrainSpLMD|9459	OMIM|300267;HPO|9459|Intellectual disability, X-linked recessive inheritance
Endothelial	DPH6	1.62658197	0.004675267	Unclassified	BrainSpLMD|89978	
Endothelial	TRIM69	0.949444699	0.004719087	Cell cycle control protein	BrainSpLMD|140691	OMIM|616017
Endothelial	15-Sep	0.519029575	0.004732569			
Endothelial	CLTC	0.3527911	0.004746226	Structural protein	BrainSpLMD|1213	OMIM|118955;COSMIC||ALCL, renal
Endothelial	AC068522.4	0.294417087	0.004841397			
Endothelial	UBE2J1	0.539453075	0.004936229	Ubiquitin proteasome system protein	BrainSpLMD|51465;Eurexp|euxassay_012405|clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mandible, mantle layer, neural retina, olfactory, orbito-sphenoid, trigeminal V, vagus X	OMIM|616175
Endothelial	MAPK1	0.40916081	0.004950732	Serine/threonine kinase	BrainSpLMD|5594	SFARI||Autism, 5 - Hypothesized but untested;OMIM|176948;COSMIC||CLL, ovarian mixed germ cell tumour, cervical carcinoma;HPO|5594|Abnormality of earlobe, Absent fingernail, Absent toenail, Clinodactyly of the 5th finger, Deeply set eye, Global developmental delay, Highly arched eyebrow, Intellectual disability, Intrauterine growth retardation, Language impairment, Microcephaly, Neoplasm, Pes planus, Pointed chin, Premature birth, Short stature, Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Underdeveloped nasal alae
Endothelial	EEF1A1P6	0.515713162	0.004956656			
Endothelial	SH3BGRL	0.349262524	0.004963712	Unclassified	BrainSpLMD|6451	OMIM|300190
Endothelial	S1PR2	0.273716178	0.004977162	G protein coupled receptor	BrainSpLMD|9294;Eurexp|euxassay_006718|bladder, incisor, molar	OMIM|605111;HPO|9294|Autosomal recessive inheritance, Infantile onset, Sensorineural hearing impairment
Endothelial	SYNJ2BP	0.390548251	0.00501017	Integral membrane protein	BrainSpLMD|55333	OMIM|609411
Endothelial	ATF7	0.645734374	0.005042133	Transcription factor	BrainSpLMD|11016	OMIM|606371
Endothelial	CHORDC1	0.654208358	0.005059271	Unclassified	BrainSpLMD|26973;Eurexp|euxassay_005070|brain, olfactory, trigeminal V, vomeronasal organ	OMIM|604353
Endothelial	PIAS2	0.289814671	0.005104585	Transcription regulatory protein	BrainSpLMD|9063	OMIM|603567
Endothelial	HSPE1P2	0.287661428	0.005186329			
Endothelial	AC107081.5	0.295747351	0.00522874			
Endothelial	FAM134A	0.627043355	0.005242458			
Endothelial	C14orf159	1.772975583	0.005263707			
Endothelial	TM9SF2	0.40324821	0.005285709	Integral membrane protein	BrainSpLMD|9375;Eurexp|euxassay_008168|basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, left, midgut, orbito-sphenoid, otic capsule, petrous part, rib, right, turbinate	OMIM|604678
Endothelial	UBL5	0.303958339	0.005324452	Ubiquitin proteasome system protein	BrainSpLMD|59286	OMIM|606849
Endothelial	SLC25A24	0.513071943	0.005327462	Transport/cargo protein	BrainSpLMD|29957	SFARI||Autism, 5 - Hypothesized but untested;OMIM|608744
Endothelial	SRGAP2	0.295520747	0.005380123	GTPase activating protein	Eurexp|euxassay_013988|dorsal grey horn, mantle layer, ventricle, ventricular layer	OMIM|606524
Endothelial	PPP2CB	0.731085302	0.005410045	Serine/threonine phosphatase	BrainSpLMD|5516	OMIM|176916
Endothelial	DYRK1A	0.987223327	0.005436672	Serine/threonine kinase	BrainSpLMD|1859	SFARI||Autism, 1 - High confidence;OMIM|600855;HPO|1859|Ataxia, Autism, Autosomal dominant inheritance, Bulbous nose, Cerebral cortical atrophy, Deeply set eye, Delayed speech and language development, Failure to thrive in infancy, Febrile seizures, Gait disturbance, Generalized hypotonia, Hallux valgus, Hyperactivity, Hypotelorism, Intellectual disability, severe, Intrauterine growth retardation, Macrotia, Microcephaly, Micrognathia, Narrow forehead, Severe global developmental delay, Small for gestational age, Thickened helices
Endothelial	MYNN	0.71605707	0.005489641	Transcription factor	BrainSpLMD|55892;Eurexp|euxassay_007036|embryo	OMIM|606042
Endothelial	EIF3LP3	0.710925948	0.00556836			
Endothelial	HEY1	0.82493601	0.005573651	Transcription factor	BrainSpLMD|23462;Eurexp|euxassay_005307|calyces, mandible, maxilla, olfactory, orbito-sphenoid, pituitary, respiratory, thymus primordium, ventricular layer;BrainSpMouseDev|14989	OMIM|602953;COSMIC||mesenchymal chondrosarcoma
Endothelial	MTCH1	1.369748198	0.005597605	Unclassified	BrainSpLMD|23787;Eurexp|euxassay_007787|choroid invagination, choroid plexus, marginal layer, roof plate, thyroid	OMIM|610449
Endothelial	SNRPC	0.379568224	0.005733332	Ribonucleoprotein	BrainSpLMD|6631	OMIM|603522
Endothelial	BTF3	0.324840691	0.005747623	Transcription factor	BrainSpLMD|689;Eurexp|euxassay_019495|clavicle, hindgut, incisor, liver, lung, metanephros, midgut, molar, oesophagus, pancreas, pharyngo-tympanic tube, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa;BrainSpMouseDev|85373	OMIM|602542
Endothelial	TSR2	0.98580088	0.005822079	Unclassified	BrainSpLMD|90121	OMIM|300945;HPO|90121|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Cleft palate, Conductive hearing impairment, Delayed puberty, Downslanted palpebral fissures, Fatigue, Macrocytic anemia, Micrognathia, Microtia, Midface retrusion, Migraine, Pallor, X-linked recessive inheritance
Endothelial	C17orf85	0.443767643	0.005826212			
Endothelial	MAN2A1	0.788456343	0.005896942	Enzyme: Glycosidase	BrainSpLMD|4124	OMIM|154582
Endothelial	MRPL22	0.319289755	0.005918815	Ribosomal subunit	BrainSpLMD|29093	OMIM|611835
Endothelial	PCF11	0.314190076	0.005929908	RNA binding protein	BrainSpLMD|51585	OMIM|608876
Endothelial	PPP1CA	0.49227512	0.005931932	Serine/threonine phosphatase	BrainSpLMD|5499	OMIM|176875
Endothelial	JAK2	0.76568426	0.005964587	Tyrosine kinase	BrainSpLMD|3717;Eurexp|euxassay_018794|brain, calyces, clavicle, dorsal root ganglion, facial VII, femur, glossopharyngeal IX, lobe, mandible, maxilla, neural retina, orbito-sphenoid, pelvis, rib, spinal cord, submandibular gland primordium, thymus primordium, thyroid, trachea, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|147796;COSMIC||ALL, AML, MPN, CML;HPO|3717|Abdominal pain, Abnormal bleeding, Abnormal platelet morphology, Acute leukemia, Amaurosis fugax, Angina pectoris, Arterial thrombosis, Arthralgia, Ascites, Autosomal dominant inheritance, Bruising susceptibility, Budd-Chiari syndrome, Cerebral hemorrhage, Cerebral ischemia, Chest pain, Cirrhosis, Elevated hepatic transaminases, Epistaxis, Esophageal varix, Exertional dyspnea, Fatigue, Fever, Gastrointestinal hemorrhage, Gingival bleeding, Headache, Hepatomegaly, Hyperhidrosis, Hypertension, Increased hematocrit, Increased hemoglobin, Increased megakaryocyte count, Increased red blood cell mass, Leukocytosis, Myelodysplasia, Myelofibrosis, Myeloproliferative disorder, Myocardial infarction, Paresthesia, Peripheral arterial stenosis, Peripheral thrombosis, Plethora, Portal hypertension, Prolonged bleeding time, Pruritus, Respiratory insufficiency, Somatic mutation, Splenomegaly, Sporadic, Thrombocytopenia, Thrombocytosis, Thromboembolism, Tinnitus, Transient ischemic attack, Venous thrombosis, Vertigo, Weight loss
Endothelial	RIMKLB	1.505950842	0.006060779	Unclassified	BrainSpLMD|57494;Eurexp|euxassay_010437|brain, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, incisor, molar, neural retina, phalanx, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|614054
Endothelial	NUTM2A.AS1	0.766600954	0.006145061			
Endothelial	PSAP	0.426039648	0.006145441	Integral membrane protein	BrainSpLMD|5660	OMIM|176801;HPO|5660|Abnormality of eye movement, Abnormality of glycosphingolipid metabolism, Abnormality of the periventricular white matter, Anemia, Autosomal recessive inheritance, Babinski sign, CNS demyelination, Central apnea, Cerebral dysmyelination, Congenital onset, Death in childhood, Death in infancy, Decreased nerve conduction velocity, Developmental regression, Dysarthria, Dysphagia, Dystonia, Erlenmeyer flask deformity of the femurs, Fasciculations, Feeding difficulties, Gait ataxia, Generalized clonic seizures, Generalized hypotonia, Generalized tonic-clonic seizures, Global brain atrophy, Global developmental delay, Hepatomegaly, Hepatosplenomegaly, Hyperkinesis, Hyperreflexia, Hypertonia, Hypoplasia of the corpus callosum, Hyporeflexia, Increased CSF protein, Increased cerebral lipofuscin, Infantile onset, Loss of speech, Mental deterioration, Muscle weakness, Muscular hypotonia, Myoclonus, Neuronal loss in central nervous system, Osteopenia, Peripheral demyelination, Polyneuropathy, Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Seizures, Spastic tetraparesis, Splenomegaly, Thrombocytopenia, Urinary incontinence, Variable expressivity
Endothelial	SLC37A3	0.939926181	0.006156879	Membrane transport protein	BrainSpLMD|84255	
Endothelial	JDP2	0.92842784	0.006189948	Transcription factor	BrainSpLMD|122953;Eurexp|euxassay_016441|axial skeleton, dorsal root ganglion, facial VII, femur, glossopharyngeal IX, humerus, mandible, mantle layer, maxilla, neural retina, phalanx, scapula, trigeminal V, vagus X, ventral grey horn;BrainSpMouseDev|57385	OMIM|608657
Endothelial	RNF167	0.725003667	0.006276258	Ubiquitin proteasome system protein	BrainSpLMD|26001	OMIM|610431
Endothelial	ASXL2	0.528072443	0.006309551	DNA binding protein	BrainSpLMD|55252;Eurexp|euxassay_009229|ventricular layer, vibrissa	OMIM|612991;COSMIC||melanoma, CCRCC, AML;HPO|55252|Atrial septal defect, Autosomal dominant inheritance, Broad nasal tip, Deep palmar crease, Delayed speech and language development, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Highly arched eyebrow, Hypertelorism, Infantile onset, Intellectual disability, Kyphosis, Long face, Low-set ears, Macrocephaly, Phenotypic variability, Posteriorly rotated ears, Proptosis, Ptosis, Retrognathia, Scoliosis, Ventriculomegaly
Endothelial	KIT	0.306466955	0.006339641	Receptor tyrosine kinase	BrainSpLMD|3815;BrainSpMouseDev|16363	SFARI||Autism, No category;OMIM|164920;COSMIC||GIST, AML, TGCT, mastocytosis, mucosal melanoma, GIST, epithelioma, Piebald trait;HPO|3815|Abnormal blistering of the skin, Abnormality of metabolism/homeostasis, Abnormality of the ear, Absent pigmentation of the ventral chest, Acute myeloid leukemia, Aganglionic megacolon, Autosomal dominant inheritance, Chronic myelogenous leukemia, Chronic myelomonocytic leukemia, Constipation, Cryptorchidism, Cutaneous mastocytosis, Dysphagia, Eosinophilia, Erythema, Erythroderma, Fatigue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Gonadal dysgenesis, Heterochromia iridis, Hypermelanotic macule, Hyperpigmentation of the skin, Hypopigmented skin patches, Intestinal obstruction, Large hands, Macule, Mastocytosis, Myelodysplasia, Nausea and vomiting, Neoplasm, Neoplasm of the stomach, Neurofibromas, Partial albinism, Piebaldism, Profuse pigmented skin lesions, Pruritus, Sarcoma, Somatic mutation, Sporadic, Subcutaneous nodule, Telangiectasia macularis eruptiva perstans, Teratoma, Thickened skin, Urticaria, White eyebrow, White eyelashes, White forelock
Endothelial	DRAM2	0.43178868	0.006345269	Unclassified	BrainSpLMD|128338;Eurexp|euxassay_012617|dorsal grey horn	OMIM|613360;HPO|128338|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal recessive inheritance, Macular atrophy, Nyctalopia, Photophobia, Reduced visual acuity
Endothelial	GTF2A2	0.528443084	0.006351438	Transcription factor	BrainSpLMD|2958	OMIM|600519
Endothelial	SRA1	0.702612597	0.006365724	Unclassified	BrainSpLMD|10011	OMIM|603819;HPO|10011|Autosomal dominant inheritance, Autosomal recessive inheritance, Cryptorchidism, Decreased testicular size, Gynecomastia, Hypogonadotrophic hypogonadism, Micropenis, Primary amenorrhea, Sparse axillary hair, Sparse pubic hair
Endothelial	GLUD1	0.428525325	0.00644429	Enzyme: Dehydrogenase	BrainSpLMD|2746	OMIM|138130;HPO|2746|Asymptomatic hyperammonemia, Autosomal dominant inheritance, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability
Endothelial	EIF5	0.263965967	0.006447599	Translation regulatory protein;GTPase activating protein	BrainSpLMD|1983	OMIM|601710
Endothelial	ATP6AP2	0.747005974	0.006496958	Cell surface receptor	BrainSpLMD|10159	OMIM|300556;HPO|10159|Action tremor, Agraphesthesia, Astereognosia, Autosomal recessive inheritance, Babinski sign, Bradykinesia, Cerebellar atrophy, Cerebral atrophy, Cogwheel rigidity, Delayed speech and language development, Gait disturbance, Generalized tonic-clonic seizures, Hypomimic face, Hypoplasia of the corpus callosum, Hyporeflexia, Infantile onset, Intellectual disability, Motor delay, Parkinsonism, Resting tremor, Slow progression, Variable expressivity, X-linked recessive inheritance
Endothelial	KDM6A	0.530477035	0.006511396	Unclassified	BrainSpLMD|7403	SFARI||Autism, 2 - Strong candidate;OMIM|300128;COSMIC||renal cell carcinoma, bladder carcinoma, oesophageal SCC, MM, medulloblastoma, T-ALL, other tumour types, Kabuki syndrome;HPO|7403|Abnormal dermatoglyphics, Abnormal vertebral morphology, Abnormality of the breast, Abnormality of the cardiac septa, Abnormality of the dentition, Anal atresia, Anal stenosis, Anoperineal fistula, Atrial septal defect, Autoimmune thrombocytopenia, Autosomal dominant inheritance, Behavioral abnormality, Blue sclerae, Broad nasal tip, Butterfly vertebrae, Cafe-au-lait spot, Central hypotonia, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Conductive hearing impairment, Congenital hip dislocation, Congenital hypothyroidism, Crossed fused renal ectopia, Cryptorchidism, Decreased body weight, Dental malocclusion, Depressed nasal tip, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Generalized hypotonia, Generalized joint laxity, Global developmental delay, Hearing impairment, Hemivertebrae, Hemolytic anemia, High palate, Highly arched eyebrow, Hirsutism, Hydrocephalus, Hypodontia, Intellectual disability, Intestinal malrotation, Joint hyperflexibility, Joint hypermobility, Long eyelashes, Long palpebral fissure, Macrotia, Malabsorption, Microcephaly, Microdontia, Micropenis, Muscular hypotonia, Neonatal hypoglycemia, Posteriorly rotated ears, Postnatal growth retardation, Preauricular pit, Premature thelarche, Prominent eyelashes, Prominent fingertip pads, Protruding ear, Ptosis, Recurrent aspiration pneumonia, Recurrent infections, Recurrent otitis media, Scoliosis, Seizures, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Sparse and thin eyebrow, Sparse lateral eyebrow, Strabismus, Ureteropelvic junction obstruction, Ventricular septal defect, Ventriculomegaly, Wide nasal bridge, Widely spaced teeth, X-linked dominant inheritance
Endothelial	TOMM22	0.636206595	0.006517303	Membrane transport protein	BrainSpLMD|56993	OMIM|607046
Endothelial	MT.TQ	0.364309432	0.006543978			
Endothelial	RLF	0.544183352	0.006570337	Transcription factor	BrainSpLMD|6018	OMIM|180610
Endothelial	RP11.112J1.1	0.283264642	0.006604814			
Endothelial	PDIA4	0.486328486	0.006733375	Chaperone	BrainSpLMD|9601;Eurexp|euxassay_000803|basal plate, telencephalon, ventricular layer	
Endothelial	FTH1P23	0.336785169	0.006824153			
Endothelial	PDCL3	0.356175591	0.006827927	Unclassified	BrainSpLMD|79031	OMIM|611678
Endothelial	RCBTB1	1.109187868	0.006830009	Unclassified	BrainSpLMD|55213	OMIM|607867;HPO|55213|Autosomal recessive inheritance, Pulmonary fibrosis, Reduced visual acuity, Retinal dystrophy
Endothelial	RIPK1	1.642567758	0.00687177	Serine/threonine kinase	BrainSpLMD|8737	OMIM|603453
Endothelial	PKM	0.680556325	0.006913213	Enzyme: Phosphotransferase	BrainSpLMD|5315	OMIM|179050
Endothelial	SLC18B1	1.487764628	0.007002587	Unclassified	BrainSpLMD|116843	OMIM|613361
Endothelial	RPL41P5	0.57569248	0.007024459			
Endothelial	NDST1	0.759398421	0.007059674	Enzyme: Deacetylase	BrainSpLMD|3340	OMIM|600853;HPO|3340|Aggressive behavior, Agitation, Autosomal recessive inheritance, Generalized hypotonia, Global developmental delay, Growth delay, Intellectual disability, Poor speech, Sleep disturbance
Endothelial	RPS26P47	0.294563051	0.007136585			
Endothelial	FAM162A	1.111902999	0.007160527	Unclassified	BrainSpLMD|26355	OMIM|608017
Endothelial	SAE1	1.178382497	0.007183753	Enzyme: Ligase	BrainSpLMD|10055;Eurexp|euxassay_005976|embryo	SFARI||Autism, No category;OMIM|613294
Endothelial	PRRG3	0.307295155	0.007224282	Integral membrane protein	BrainSpLMD|79057	OMIM|300685
Endothelial	PIGA	0.70307084	0.007233591	Enzyme: Glycosyltransferase	BrainSpLMD|5277	OMIM|311770;HPO|5277|Abnormality of skin morphology, Abnormality of the pons, Absent septum pellucidum, Absent speech, Anteverted nares, Atrial septal defect, Birth length greater than 97th percentile, Bone marrow hypocellularity, Central hypotonia, Cerebellar hypoplasia, Cerebral cortical atrophy, Coarse facial features, Cortical visual impairment, Death in infancy, Delayed myelination, Depressed nasal bridge, Developmental regression, Downturned corners of mouth, Epileptic encephalopathy, Flexion contracture, Generalized myoclonic seizures, Gingival overgrowth, Hearing impairment, Hemolytic anemia, High palate, Hypercoagulability, Hyperreflexia, Hypertelorism, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile spasms, Large fontanelles, Large for gestational age, Macrocephaly, Malar flattening, Microdontia, Micrognathia, Micropenis, Muscular hypotonia of the trunk, Myoclonus, Narrow mouth, Neuronal loss in central nervous system, Olfactory lobe agenesis, Overfolded helix, Overgrowth, Paroxysmal nocturnal hemoglobinuria, Postnatal microcephaly, Prominent occiput, Short neck, Small nail, Somatic mutation, Thromboembolism, Triangular mouth, Upslanted palpebral fissure, Variable expressivity, Widely spaced teeth, X-linked recessive inheritance
Endothelial	CDC27	0.813803978	0.007418754	Cell cycle control protein	BrainSpLMD|996	OMIM|116946
Endothelial	ANAPC13	0.309694207	0.007461509	Unclassified	BrainSpLMD|25847	OMIM|614484
Endothelial	HADHB	0.844331153	0.007487674	Enzyme: Dehydrogenase	BrainSpLMD|3032	OMIM|143450;HPO|3032|Abnormality of the amniotic fluid, Autosomal recessive inheritance, Congestive heart failure, Dilated cardiomyopathy, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Generalized muscle weakness, Global developmental delay, Hydrops fetalis, Hyperammonemia, Hypoketotic hypoglycemia, Lactic acidosis, Myalgia, Myoglobinuria, Peripheral neuropathy, Prenatal maternal abnormality, Respiratory failure, Rhabdomyolysis, Small for gestational age
Endothelial	LGALSL	0.944977906	0.007491907		BrainSpLMD|29094;Eurexp|euxassay_002315|dorsal root ganglion, pectoral girdle and thoracic body wall, rib, submandibular gland primordium	
Endothelial	DUSP3	0.348059447	0.007525154	Dual specificity phosphatase	BrainSpLMD|1845;Eurexp|euxassay_001212|glossopharyngeal IX, vagus X	OMIM|600183
Endothelial	ZNF407	1.50830216	0.007717691	DNA binding protein	BrainSpLMD|55628	SFARI||Autism, No category;OMIM|615894
Endothelial	FAXDC2	0.26331235	0.007769977	Integral membrane protein	BrainSpLMD|10826	
Endothelial	CINP	1.700746667	0.007951157	Unclassified	BrainSpLMD|51550;Eurexp|euxassay_005320|axial muscle, dorsal root ganglion, glossopharyngeal IX, incisor, mantle layer, submandibular gland primordium, trigeminal V	OMIM|613362
Endothelial	NAA10	1.427909354	0.007956109	Enzyme: Acyltransferase	BrainSpLMD|8260;Eurexp|euxassay_002781|submandibular gland primordium	OMIM|300013;HPO|8260|Abnormal palmar dermatoglyphics, Abnormality of dental morphology, Abnormality of the dentition, Abnormality of the nares, Abnormality of the pinna, Aganglionic megacolon, Agenesis of maxillary lateral incisor, Aggressive behavior, Anal atresia, Anophthalmia, Atrial septal defect, Bicuspid aortic valve, Blindness, Broad hallux, Camptodactyly, Camptodactyly of finger, Cerebral atrophy, Chorioretinal coloboma, Ciliary body coloboma, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Coarse facial features, Complete duplication of thumb phalanx, Congenital onset, Cryptorchidism, Deep philtrum, Delayed cranial suture closure, Dental crowding, Depressed nasal bridge, Down-sloping shoulders, Downslanted palpebral fissures, Epicanthus, Everted upper lip vermilion, External ear malformation, Facial wrinkling, Finger syndactyly, Generalized hypotonia, Glaucoma, Global developmental delay, Growth delay, Hearing impairment, High palate, High, narrow palate, Hydronephrosis, Hydroureter, Hypertonia, Hypospadias, Inguinal hernia, Intellectual disability, Iris coloboma, Joint contracture of the hand, Kyphoscoliosis, Long eyelashes, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Macrotia, Microcephaly, Microcornea, Microphthalmia, Microretrognathia, Minimal subcutaneous fat, Motor delay, Narrow chest, Optic nerve coloboma, Oral cleft, Overfolded helix, Pectus excavatum, Postnatal growth retardation, Prominent forehead, Proptosis, Ptosis, Pulmonary artery stenosis, Pyloric stenosis, Radial deviation of finger, Rectal prolapse, Recurrent infections, Recurrent otitis media, Redundant skin, Renal hypoplasia, Renal hypoplasia/aplasia, Seizures, Self-mutilation, Short clavicles, Short columella, Short stature, Sparse and thin eyebrow, Spastic diplegia, Stereotypy, Supraventricular tachycardia, Syndactyly, Thick upper lip vermilion, Thin upper lip vermilion, Torsade de pointes, Underdeveloped nasal alae, Variable expressivity, Ventricular extrasystoles, Ventricular septal defect, Ventricular tachycardia, Webbed neck, Wide nasal bridge, X-linked dominant inheritance, X-linked inheritance, X-linked recessive inheritance
Endothelial	CTB.89H12.4	0.602471389	0.008163348			
Endothelial	GOSR2	0.653234323	0.008205404	Membrane transport protein	BrainSpLMD|9570	OMIM|604027;HPO|9570|Absence seizures, Areflexia, Ataxia, Atonic seizures, Autosomal recessive inheritance, Difficulty walking, Dysarthria, Elevated serum creatine phosphokinase, Myoclonus, Progressive, Scoliosis, Tremor
Endothelial	PFKL	1.431135521	0.008262205	Enzyme: Phosphotransferase	BrainSpLMD|5211;Eurexp|euxassay_017900|axial skeleton, basioccipital bone, clavicle, hindgut, incisor, left ventricle, loop, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pituitary, rectum, rib, right ventricle, stomach, submandibular gland primordium, temporal bone, thymus primordium, trachea, vertebral axis muscle system, vibrissa	OMIM|171860
Endothelial	SUPT7L	0.810119324	0.008282925	Transcription regulatory protein	BrainSpLMD|9913	OMIM|612762
Endothelial	EIF6	0.712314546	0.008307192	Translation regulatory protein	BrainSpLMD|3692	OMIM|602912
Endothelial	H2AFZ	0.355918183	0.00837007	DNA binding protein	BrainSpLMD|3015	OMIM|142763
Endothelial	NAA30	1.593708111	0.008496662	Enzyme: Transferase		
Endothelial	PPP1CC	0.311434919	0.008509171	Serine/threonine phosphatase	BrainSpLMD|5501	OMIM|176914
Endothelial	CHD1L	0.413585989	0.008519094	DNA binding protein	BrainSpLMD|9557	OMIM|613039
Endothelial	STX8	0.260168601	0.008533467	Membrane transport protein	BrainSpLMD|9482	OMIM|604203
Endothelial	SPPL2A	0.525005313	0.008550592		BrainSpLMD|84888;Eurexp|euxassay_010397|clavicle, mandible, maxilla, orbito-sphenoid, rib, thymus primordium	OMIM|608238
Endothelial	PGM2	0.511312764	0.008571621	Enzyme: Phosphotransferase	BrainSpLMD|55276	OMIM|172000
Endothelial	METTL17	0.47625017	0.008733485	Unclassified	BrainSpLMD|64745	OMIM|616091
Endothelial	SLC25A39	1.240425032	0.008737372	Ion channel	BrainSpLMD|51629;Eurexp|euxassay_019719|adrenal gland, autonomic, axial muscle, cranial, dorsal root ganglion, facial VII, glossopharyngeal IX, gut, hypogastric plexus, incisor, liver, lobe, lumen, mandibular division, maxillary division, metanephros, midgut, molar, nerve plexus, nucleus pulposus, oculomotor III, ophthalmic division, optic II, pancreas, pectoral girdle and thoracic body wall, pelvic girdle, physiological umbilical hernia, renal/urinary system, rib, scapula, skeleton, spleen primordium, submandibular gland primordium, sympathetic, testis, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|610820
Endothelial	IL33	1.096173651	0.008773336	Unclassified	Eurexp|euxassay_011591|capsule, cortex, endolymphatic duct, lip, mesentery, midgut, olfactory, skeletal muscle, utricle	OMIM|608678
Endothelial	AP000254.8	0.781547777	0.008851099			
Endothelial	AIDA	0.266099437	0.008886596	Unclassified	BrainSpLMD|64853;Eurexp|euxassay_007099|embryo	OMIM|612375
Endothelial	NDUFB8	0.333468873	0.00895232	Enzyme: Oxidoreductase	BrainSpLMD|4714	OMIM|602140
Endothelial	TCF25	0.500883235	0.008994059	Unclassified	BrainSpLMD|22980;Eurexp|euxassay_011485|cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mandible, mantle layer, maxilla, molar, neural retina, orbito-sphenoid, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, vault of skull, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42698	OMIM|612326
Endothelial	CKLF	0.311930071	0.009147565	Chemokine	BrainSpLMD|51192	OMIM|616074
Endothelial	UGCG	0.504518131	0.00917123	Enzyme: Glycosyltransferase	BrainSpLMD|7357	OMIM|602874
Endothelial	SIRT1	0.580417652	0.00919763	Enzyme: Deacetylase	BrainSpLMD|23411	OMIM|604479
Endothelial	MGST3	0.345732351	0.009203414	Enzyme: Glutathione transferase	BrainSpLMD|4259;Eurexp|euxassay_015092|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, neural retina, olfactory, spinal cord, stomach, stroma, thoracic, trigeminal V, urethra, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42290	OMIM|604564
Endothelial	FBXO38	0.997557065	0.009330073	Transcription regulatory protein		OMIM|608533;HPO|81545|Autosomal dominant inheritance, Difficulty running, Difficulty walking, EMG: chronic denervation signs, Fasciculations, Lower limb amyotrophy, Lower limb muscle weakness, Muscle cramps, Slow progression, Spinal muscular atrophy, Triceps weakness, Variable expressivity, Weakness of the intrinsic hand muscles
Endothelial	CDC42	0.419559462	0.009626655	GTPase	BrainSpLMD|998;BrainSpMouseDev|12325	OMIM|116952
Endothelial	ATXN2L	0.84591615	0.009629746	Unclassified	BrainSpLMD|11273	OMIM|607931
Endothelial	USP6NL	1.120082517	0.00968607	GTPase activating protein	BrainSpLMD|9712	OMIM|605405
Endothelial	POLR3GL	0.764144095	0.009699914	Unclassified	BrainSpLMD|84265	OMIM|617457
Endothelial	KCMF1	0.867642906	0.009742771	Ubiquitin proteasome system protein	BrainSpLMD|56888	OMIM|614719
Endothelial	DNAJB14	0.531070513	0.009776149	Chaperone	BrainSpLMD|79982	OMIM|617487
Endothelial	C5orf45	1.533872838	0.009787287			
Endothelial	SDHD	0.749447194	0.009800429	Enzyme: Dehydrogenase	BrainSpLMD|6392	OMIM|602690;COSMIC||paraganglioma, pheochromocytoma;HPO|6392|Abdominal pain, Abnormal mitochondria in muscle tissue, Abnormality of mitochondrial metabolism, Abnormality of the penis, Adenoma sebaceum, Adult onset, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Breast carcinoma, Cafe-au-lait spot, Cavernous hemangioma, Cerebral hemorrhage, Chemodectoma, Cognitive impairment, Colorectal polyposis, Conductive hearing impairment, Congenital cataract, Congestive heart failure, Conjunctival hamartoma, Cranial nerve paralysis, Decreased activity of mitochondrial complex II, Developmental regression, Dilated cardiomyopathy, Dysphagia, Dystonia, Elevated circulating catecholamine level, Elevated urinary norepinephrine, Episodic hypertension, Episodic paroxysmal anxiety, Exercise intolerance, Flexion contracture, Furrowed tongue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Generalized hyperkeratosis, Global developmental delay, Glomus jugular tumor, Glomus tympanicum paraganglioma, Goiter, Hamartomatous polyposis, Hearing impairment, Hemangioma, Hoarse voice, Hypercalcemia, Hyperhidrosis, Hyperreflexia, Hypertension associated with pheochromocytoma, Hypertensive retinopathy, Hypertrophic cardiomyopathy, Increased intramyocellular lipid droplets, Increased serum lactate, Infantile onset, Intellectual disability, Intestinal carcinoid, Intestinal obstruction, Left ventricular noncompaction, Leukoencephalopathy, Lipoma, Loss of voice, Macrocephaly, Macroglossia, Macule, Melanocytic nevus, Meningioma, Mucosal telangiectasiae, Muscle weakness, Myoclonus, Neonatal hypotonia, Neoplasm, Neoplasm of the gastrointestinal tract, Neoplasm of the thyroid gland, Nystagmus, Ophthalmoplegia, Optic atrophy, Palmoplantar keratoderma, Palpitations, Papilloma, Papule, Paraganglioma, Phenotypic variability, Pheochromocytoma, Pigmentary retinopathy, Positive regitine blocking test, Progressive leukoencephalopathy, Proteinuria, Ptosis, Pulsatile tinnitus, Ragged-red muscle fibers, Recurrent paroxysmal headache, Renal artery stenosis, Renal cell carcinoma, Seizures, Short stature, Spasticity, Stress/infection-induced lactic acidosis, Subcutaneous nodule, Tachycardia, Tinnitus, Uterine leiomyoma, Vagal paraganglioma, Visual impairment, Vocal cord paralysis, Weight loss
Endothelial	PPP3CC	0.452849844	0.009892302	Serine/threonine phosphatase;ATPase	BrainSpLMD|5533	OMIM|114107
Endothelial	DCUN1D3	0.310654863	0.009924319	Unclassified	BrainSpLMD|123879;BrainSpMouseDev|87722	OMIM|616167
Endothelial	PFDN1	0.417265565	0.009946695	Chaperone	BrainSpLMD|5201	OMIM|604897
Endothelial	INSIG1	0.853972396	0.009963874	Integral membrane protein	BrainSpLMD|3638;Eurexp|euxassay_011040|cervical, cervico-thoracic, glossopharyngeal IX, hindgut, incisor, lobe, mandible, maxilla, mesenchyme, midgut, neural retina, rectum, stomach, thoracic, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|602055
Endothelial	STK40	0.893332583	0.009975685	Serine/threonine kinase	BrainSpLMD|83931;Eurexp|euxassay_004092|epidermis, incisor, molar, oesophagus, oral epithelium, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, vibrissa	OMIM|609437
Mural	RGS5	6.215053433	0	GTPase activating protein	BrainSpLMD|8490;Eurexp|euxassay_005268|aorta, brain, ductus deferens, hindgut, lung, mesenchyme, metanephros, midgut, molar, olfactory, palatal shelf, pericardium, stomach, thymus primordium	OMIM|603276
Mural	ITIH5	5.95753615	0	Protease inhibitor	BrainSpLMD|80760;Eurexp|euxassay_013596|bladder, carpus, cranial muscle, diaphragm, extrinsic ocular muscle, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, meninges, mesenchyme, nasal septum, oesophagus, rest of mesenchyme, saccule, stomach, valve, vibrissa	OMIM|609783
Mural	HIGD1B	5.86715586	0	Integral membrane protein	BrainSpLMD|51751	
Mural	COL4A1	5.767860326	0	Extracellular matrix protein	BrainSpLMD|1282;Eurexp|euxassay_017239|choroid plexus, mesenchyme, testis;BrainSpMouseDev|12609	OMIM|120130;HPO|1282|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Absent septum pellucidum, Agenesis of corpus callosum, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Autosomal dominant inheritance, Babinski sign, Blurred vision, Cerebellar atrophy, Cerebellar hypoplasia, Chorioretinal dysplasia, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Dilatation of the cerebral artery, Elevated serum creatine phosphokinase, Exotropia, Facial paralysis, Glaucoma, Global developmental delay, Hematuria, Hemiparesis, Hemiplegia, Hemolytic anemia, Hydrocephalus, Hypopigmentation of the fundus, Hypoplasia of penis, Hyporeflexia, Intellectual disability, Ischemic stroke, Leukoencephalopathy, Limb dystonia, Lissencephaly, Macrocephaly, Macrogyria, Metatarsus valgus, Microphthalmia, Migraine with aura, Muscle cramps, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Nephropathy, Optic atrophy, Pachygyria, Polymicrogyria, Porencephalic cyst, Posterior leukoencephalopathy, Raynaud phenomenon, Renal cyst, Renal insufficiency, Retinal arteriolar tortuosity, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Retinal hemorrhage, Schizencephaly, Scotoma, Seizures, Skeletal muscle atrophy, Spasticity, Specific learning disability, Supraventricular arrhythmia, Tetraparesis, Variable expressivity, Visual field defect, Visual loss
Mural	ABCC9	5.696706438	0	Ion channel	BrainSpLMD|10060	OMIM|601439;HPO|10060|Abnormality of the hand, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Anteverted nares, Autosomal dominant inheritance, Bicuspid aortic valve, Blepharophimosis, Broad first metatarsal, Broad hallux, Broad hallux phalanx, Broad ribs, Bulbous nose, Cardiomegaly, Coarse facial features, Congenital hypertrophy of left ventricle, Congenital, generalized hypertrichosis, Coxa valga, Craniofacial hyperostosis, Cuboid-shaped vertebral bodies, Curly eyelashes, Deep plantar creases, Delayed skeletal maturation, Depressed nasal bridge, Dilated cardiomyopathy, Epicanthus, Erlenmeyer flask deformity of the femurs, Everted lower lip vermilion, Furrowed tongue, Generalized hirsutism, Gingival overgrowth, Highly arched eyebrow, Hypertelorism, Hypoplastic ischiopubic rami, Intellectual disability, mild, Joint hyperflexibility, Large for gestational age, Large hands, Large sella turcica, Long eyelashes, Long nose, Long philtrum, Low anterior hairline, Low posterior hairline, Lymphedema, Macrocephaly, Macroglossia, Metaphyseal widening, Micrognathia, Narrow chest, Osteoporosis, Ovoid vertebral bodies, Palpebral edema, Paroxysmal atrial fibrillation, Patent ductus arteriosus, Pericardial effusion, Platyspondyly, Prominent forehead, Prominent supraorbital ridges, Short distal phalanx of finger, Short hallux, Short neck, Skeletal dysplasia, Sloping forehead, Synophrys, Thick eyebrow, Thick lower lip vermilion, Thick nasal alae, Thick upper lip vermilion, Thick vermilion border, Thickened skin, Umbilical hernia, Wide mouth, Wide nasal bridge, Widened posterior fossa
Mural	ITGA1	5.695182317	0	Cell surface receptor	BrainSpLMD|3672	OMIM|192968
Mural	SLC6A12	5.585552969	0	Transport/cargo protein	BrainSpLMD|6539	OMIM|603080
Mural	MIR4435.1HG	5.40763669	0			
Mural	SLC38A11	5.402648975	0	Transport/cargo protein	BrainSpLMD|151258	OMIM|616526
Mural	TBX18	5.395790336	0	Transcription factor	Eurexp|euxassay_000121|dermal component, epidermal component, inner canthus, inner ear, labyrinth, lip, mesenchyme, otic capsule, penis, perioptic mesenchyme, upper, urethra, vault of skull, vestibular component, vibrissa;BrainSpMouseDev|52206	OMIM|604613;HPO|9096|Abnormality of eye movement, Autosomal dominant inheritance, Bradykinesia, Cerebellar atrophy, Chorea, Congenital megaureter, Cystic renal dysplasia, Dementia, Depressivity, Flank pain, Gait ataxia, Gliosis, Hydronephrosis, Hydroureter, Hyperreflexia, Multicystic kidney dysplasia, Nephrotic syndrome, Neuronal loss in central nervous system, Personality changes, Phenotypic variability, Renal dysplasia, Renal hypoplasia, Renal sarcoma, Seizures, Ureteropelvic junction obstruction
Mural	OLFML2A	5.325630586	0	Unclassified	BrainSpLMD|169611	OMIM|615899
Mural	FZD10	5.32272817	0	G protein coupled receptor	BrainSpLMD|11211;BrainSpMouseDev|60546	OMIM|606147
Mural	FOXF2	5.317341984	0	Transcription regulatory protein	BrainSpLMD|2295;Eurexp|euxassay_019593|axial skeleton, bladder, hindgut, larynx, lung, midgut, oesophagus, palatal shelf, penis, phalanx, saccule, stomach, tongue, urethra;BrainSpMouseDev|14015	OMIM|603250
Mural	ABCA9	5.210967512	0	Integral membrane protein	BrainSpLMD|10350;Eurexp|euxassay_009386|meninges, mesenchyme, paraxial mesenchyme	OMIM|612507
Mural	CD248	5.172458943	0	Integral membrane protein	BrainSpLMD|57124;Eurexp|euxassay_012090|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, otic capsule, pelvic girdle, radius, rib, scapula, tarsus, temporal bone, tibia, turbinate	OMIM|606064
Mural	EDNRA	5.170697016	0	G protein coupled receptor	BrainSpLMD|1909	OMIM|131243;HPO|1909|Autosomal dominant inheritance, Cleft palate, Conductive hearing impairment, Cupped ear, Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Facial asymmetry, Hypoplasia of the maxilla, Low-set ears, Mandibulofacial dysostosis, Micrognathia, Protruding ear, Sparse and thin eyebrow, Sparse eyelashes, Stenosis of the external auditory canal, Trismus, Wide nasal bridge
Mural	ENPEP	5.113900776	0	Aminopeptidase	BrainSpLMD|2028;Eurexp|euxassay_010473|cochlea, lung, metanephros, physiological umbilical hernia, rectum	OMIM|138297
Mural	COL4A2	5.104097692	0	Extracellular matrix protein	BrainSpLMD|1284;BrainSpMouseDev|12610	OMIM|120090;HPO|1284|Autosomal dominant inheritance, Global developmental delay, Hemiplegia, Incomplete penetrance, Intracranial hemorrhage, Porencephalic cyst, Seizures, Spasticity, Variable expressivity, Ventriculomegaly
Mural	BGN	5.081369276	0	Extracellular matrix protein	BrainSpLMD|633	OMIM|301870;HPO|633|Anterior wedging of T11, Anterior wedging of T12, Bifid uvula, Brachydactyly, Broad long bone diaphyses, Broad metacarpals, Broad phalanx, Cone-shaped epiphyses fused within their metaphyses, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped metacarpal epiphyses, Coxa valga, Delayed ossification of carpal bones, Disproportionate short-trunk short stature, Downslanted palpebral fissures, Flared iliac wings, Flat acetabular roof, Frontal bossing, Hypertelorism, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Joint hypermobility, Kyphosis, Limited elbow extension, Long fibula, Long ulna, Lumbar hyperlordosis, Malar flattening, Metaphyseal irregularity, Mitral regurgitation, Narrow pelvis bone, Pectus carinatum, Platyspondyly, Posterior rib cupping, Prominent styloid process of ulna, Proptosis, Radial deviation of the hand, Short clavicles, Short foot, Short long bone, Short metacarpal, Short palm, Short phalanx of finger, Spondyloepimetaphyseal dysplasia, X-linked inheritance, X-linked recessive inheritance
Mural	LAMC3	5.020521562	0	Structural protein	BrainSpLMD|10319;Eurexp|euxassay_011060|meninges, vibrissa	SFARI||Autism, 5 - Hypothesized but untested;OMIM|604349;HPO|10319|Autosomal recessive inheritance, EEG abnormality, Visual loss
Mural	KCNJ8	4.981078911	0	Inward rectifier channel	BrainSpLMD|3764	OMIM|600935;HPO|3764|Abnormality of the metaphysis, Anteverted nares, Broad hallux phalanx, Broad ribs, Cardiomegaly, Coarse facial features, Coxa valga, Cuboid-shaped vertebral bodies, Curly eyelashes, Deep plantar creases, Delayed skeletal maturation, Epicanthus, Generalized hirsutism, Intellectual disability, mild, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Macrocephaly, Narrow chest, Osteoporosis, Ovoid vertebral bodies, Patent ductus arteriosus, Platyspondyly, Prominent supraorbital ridges, Short distal phalanx of finger, Short hallux, Short neck, Skeletal dysplasia, Thick eyebrow, Thick vermilion border, Umbilical hernia, Wide mouth, Wide nasal bridge
Mural	KCNE4	4.946504148	0	Voltage gated channel	BrainSpLMD|23704	OMIM|607775
Mural	CSPG4	4.891558857	0	Integral membrane protein	BrainSpLMD|1464;Eurexp|euxassay_009576|axial skeleton, basioccipital bone, basisphenoid bone, carpus, cartilaginous ring, clavicle, cricoid, femur, fibula, laryngeal, lip, orbito-sphenoid, otic capsule, petrous part, phalanx, rib, sternum, thyroid, tibia, turbinate bones, vault of skull	OMIM|601172
Mural	FN1	4.886981251	0	Extracellular matrix protein	BrainSpLMD|2335;Eurexp|euxassay_001464|axial skeleton, stomach, ventricular layer;BrainSpMouseDev|14045	OMIM|135600;HPO|2335|Autosomal dominant inheritance, Edema of the lower limbs, Generalized distal tubular acidosis, Glomerulopathy, Hypertension, Hypoalbuminemia, Mesangial abnormality, Microscopic hematuria, Nephrotic syndrome, Proteinuria, Renal cell carcinoma, Renal insufficiency, Slow progression, Stage 5 chronic kidney disease
Mural	PRELP	4.871041817	0	Anchor protein	BrainSpLMD|5549	OMIM|601914
Mural	NDUFA4L2	4.84622893	0	Enzyme: Oxidoreductase	BrainSpLMD|56901	
Mural	SULT1E1	4.744859671	0	Enzyme: Sulphotransferase	BrainSpLMD|6783;Eurexp|euxassay_009963|olfactory	OMIM|600043
Mural	RASL12	4.716114115	0	GTPase	BrainSpLMD|51285	
Mural	PDGFRB	4.707198398	0	Receptor tyrosine kinase	BrainSpLMD|5159;BrainSpMouseDev|18362	OMIM|173410;COSMIC||MPN, AML, CMML, CML;HPO|5159|Abnormality of connective tissue, Abnormality of neuronal migration, Abnormality of the hair, Abnormality of the metaphysis, Abnormality of the musculature, Abnormality of the skull, Abnormality of the thorax, Adult onset, Athetosis, Autosomal dominant inheritance, Basal ganglia calcification, Bone cyst, Brachydactyly, Bradykinesia, Calcification of the small brain vessels, Cerebral calcification, Chondrocalcinosis, Chorea, Corneal opacity, Delayed cranial suture closure, Delayed eruption of teeth, Delayed skeletal maturation, Dense calcifications in the cerebellar dentate nucleus, Depressivity, Downslanted palpebral fissures, Dysarthria, Dysdiadochokinesis, Dystonia, Eosinophilia, Fibroma, Fragile skin, Gait disturbance, Gingival fibromatosis, Growth abnormality, Hepatomegaly, Hyperextensible skin, Hyperkeratosis, Hypermetropia, Hyperreflexia, Hypoplasia of the maxilla, Increased thyroid-stimulating hormone level, Intrauterine growth retardation, Limb dysmetria, Lipoatrophy, Long foot, Malignant eosinophil proliferation, Mask-like facies, Memory impairment, Mental deterioration, Microcephaly, Micrognathia, Midface retrusion, Myeloproliferative disorder, Narrow nose, Neoplasm of the lung, Neoplasm of the skin, Osteolytic defects of the phalanges of the hand, Osteopenia, Overgrowth, Parkinsonism, Pointed chin, Postural instability, Progressive, Progressive neurologic deterioration, Prominent forehead, Prominent nasal bridge, Prominent supraorbital ridges, Proptosis, Psychosis, Ptosis, Rigidity, Seizures, Sensorineural hearing impairment, Slender long bone, Sparse hair, Subcutaneous hemorrhage, Subcutaneous nodule, Thin calvarium, Thin skin, Thin upper lip vermilion, Thin vermilion border, Thoracolumbar scoliosis, Thrombocytopenia, Tremor, Urinary incontinence, Ventriculomegaly, Wide nasal bridge
Mural	HEYL	4.667002659	0	Transcription regulatory protein	BrainSpLMD|26508;BrainSpMouseDev|35481	OMIM|609034
Mural	CCDC3	4.657818595	0	Unclassified	BrainSpLMD|83643;Eurexp|euxassay_009735|epithelium, floor plate, floorplate, mantle layer, mesenchyme, naso-lacrimal duct, olfactory	
Mural	KCNK3	4.631715555	0	Ion channel	BrainSpLMD|3777	OMIM|603220;HPO|3777|Autosomal dominant inheritance, Incomplete penetrance, Increased pulmonary vascular resistance, Progressive, Pulmonary arterial hypertension
Mural	IFITM1	4.582287168	0	Unclassified	BrainSpLMD|8519;Eurexp|euxassay_004013|bladder, lip, midgut, olfactory, pharynx, rectum, respiratory, stomach, thymus primordium	OMIM|604456
Mural	LRRC32	4.570892845	0	Unclassified		OMIM|137207
Mural	NID1	4.495816145	0	Extracellular matrix protein	BrainSpLMD|4811;Eurexp|euxassay_009707|cervical region, diaphragm, dorsal grey horn, extrinsic ocular muscle, lens, maxillary division, meninges, turbinate bones, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|131390
Mural	ETS1	4.411477727	0	Transcription factor	BrainSpLMD|2113;BrainSpMouseDev|23624	OMIM|164720
Mural	AFAP1L2	4.366305879	0	Adapter molecule	BrainSpLMD|84632;Eurexp|euxassay_003397|dorsal root ganglion, glossopharyngeal IX, hindgut, loop, marginal layer, medullary stroma, midgut, oesophagus, rectum, stomach, trigeminal V, ventricular layer, vestibulocochlear VIII	OMIM|612420
Mural	VAMP5	4.349825211	0	Membrane transport protein	BrainSpLMD|10791	OMIM|607029
Mural	LAMA4	4.337159364	0	Adhesion molecule	BrainSpLMD|3910;Eurexp|euxassay_013553|lip, nasal cavity	OMIM|600133;HPO|3910|Autosomal dominant inheritance, Dilated cardiomyopathy
Mural	UNC5B	4.33361654	0	Cell surface receptor	BrainSpLMD|219699;Eurexp|euxassay_002869|basal plate, calyces, cerebral cortex, cervical, cervico-thoracic, dorsal grey horn, dorsal root ganglion, facial VII, inferior, lip, mantle layer, marginal layer, mesenchyme, olfactory, olfactory cortex, penis, superior, thoracic, tongue, trigeminal V, vagus X, ventricular layer;BrainSpMouseDev|71614	OMIM|607870
Mural	LINC00152	4.302650771	0			
Mural	ADAMTS4	4.284019416	0	Metallo protease	BrainSpLMD|9507;Eurexp|euxassay_004320|vibrissa	OMIM|603876
Mural	PDE7B	4.272801665	0	Enzyme: Phosphodiesterase	BrainSpLMD|27115	OMIM|604645
Mural	LAMA2	4.248994652	0	Extracellular matrix protein	BrainSpLMD|3908	OMIM|156225;HPO|3908|Abnormal brainstem MRI signal intensity, Abnormal cortical gyration, Abnormality of the temporomandibular joint, Areflexia, Aspiration, Astrocytosis, Autosomal recessive inheritance, Cerebral edema, Chewing difficulties, Congenital muscular dystrophy, Congenital onset, Elevated serum creatine phosphokinase, Facial palsy, Feeding difficulties in infancy, Flexion contracture, Gastroesophageal reflux, Generalized hypotonia, Highly elevated creatine phosphokinase, Hypointensity of cerebral white matter on MRI, Hypokinesia, Inability to walk, Increased connective tissue, Intellectual disability, Kyphoscoliosis, Macroglossia, Motor delay, Muscle fiber atrophy, Muscular dystrophy, Myositis, Recurrent lower respiratory tract infections, Respiratory failure, Respiratory insufficiency due to muscle weakness, Seizures, Weak cry
Mural	CDH6	4.245617302	0	Adhesion molecule	BrainSpLMD|1004;BrainSpMouseDev|12348	OMIM|603007
Mural	COLEC12	4.229923767	0	Cell surface receptor	BrainSpLMD|81035;Eurexp|euxassay_010114|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, left lung, meninges, mesenchyme, mesentery, mesothelium, midgut, naris, oesophagus, orbito-sphenoid, otic capsule, pelvic girdle, peritoneal cavity, petrous part, rib, right lung, scapula, sternum, stomach, tibia, trachea, turbinate bones, vault of skull	OMIM|607621
Mural	NODAL	4.190911216	0	Cytokine	BrainSpLMD|4838;BrainSpMouseDev|17886	OMIM|601265;HPO|4838|Abdominal situs inversus, Abnormality of the respiratory system, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Dextrocardia, Intrauterine growth retardation, Transposition of the great arteries, Ventricular septal defect
Mural	ITGA4	4.180835934	0	Cell surface receptor	BrainSpLMD|3676;Eurexp|euxassay_018018|adenohypophysis, fundus region, left lung, mantle layer, right lung, urethra, ventral grey horn, ventricle;BrainSpMouseDev|16174	SFARI||Autism, 5 - Hypothesized but untested;OMIM|192975
Mural	NOTCH3	4.166385909	0	Cell surface receptor	BrainSpLMD|4854;BrainSpMouseDev|17898	OMIM|600276;HPO|4854|Abnormal electroretinogram, Abnormal form of the vertebral bodies, Abnormality of the hair, Abnormality of the metaphysis, Abnormality of the middle ear ossicles, Abnormality of the musculature, Abnormality of the rib cage, Abnormality of the skin, Abnormality of the skull, Abnormality of the thorax, Abnormality of visual evoked potentials, Adult onset, Amaurosis fugax, Aphasia, Arachnoid cyst, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Autosomal dominant inheritance, Biconcave vertebral bodies, Bone cyst, Cerebral cortical atrophy, Cerebral ischemia, Chondrocalcinosis, Coarse hair, Coma, Conductive hearing impairment, Confusion, Cranial nerve paralysis, Craniofacial hyperostosis, Cryptorchidism, Dementia, Dental crowding, Depressivity, Developmental regression, Dolichocephaly, Downslanted palpebral fissures, Dural ectasia, EEG abnormality, Elevated serum creatine phosphokinase, Fever, Gait disturbance, Generalized hypotonia, Gingival fibromatosis, Hemiplegia, High palate, High, narrow palate, Hypertelorism, Impaired pain sensation, Inguinal hernia, Joint hyperflexibility, Joint hypermobility, Kyphosis, Leukoencephalopathy, Long philtrum, Low posterior hairline, Low-set ears, Malar flattening, Memory impairment, Meningocele, Micrognathia, Migraine, Motor delay, Narrow face, Neoplasm of the lung, Neoplasm of the skin, Nonarteritic anterior ischemic optic neuropathy, Patent ductus arteriosus, Pectus excavatum, Platybasia, Posteriorly rotated ears, Prominent metopic ridge, Pseudobulbar paralysis, Ptosis, Recurrent subcortical infarcts, Retinal arteriolar tortuosity, Sclerosis of skull base, Scoliosis, Seizures, Sensory neuropathy, Short nasal bridge, Short neck, Short stature, Smooth philtrum, Spasticity, Stroke, Subcortical dementia, Subcutaneous nodule, Syringomyelia, Umbilical hernia, Urinary incontinence, Varicose veins, Vertebral fusion, Visual impairment, Wormian bones
Mural	PCDH18	4.091840517	0	Adhesion molecule	BrainSpLMD|54510;BrainSpMouseDev|49014	OMIM|608287
Mural	COBLL1	4.053751148	0	Unclassified	BrainSpLMD|22837;Eurexp|euxassay_012201|adrenal gland, fundus, hindgut, metanephros, midgut, stomach, submandibular gland primordium, testis, thymus primordium, vibrissa	OMIM|610318
Mural	DLC1	4.051233505	0	GTPase activating protein	BrainSpLMD|10395;Eurexp|euxassay_013403|axial skeleton, mandible, mantle layer, roof plate, trigeminal V, ventricular layer	OMIM|604258;HPO|10395|Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma
Mural	SEMA5A	4.034475572	0	Unclassified	BrainSpLMD|9037;BrainSpMouseDev|20119	SFARI||Autism, 3 - Suggestive evidence;OMIM|609297;HPO|9037|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
Mural	RBMS1	3.963214073	0	DNA binding protein	BrainSpLMD|5937	OMIM|602310
Mural	EBF1	3.902265802	0	Transcription factor	BrainSpLMD|1879;BrainSpMouseDev|13369	OMIM|164343;COSMIC||lipoma
Mural	FRZB	3.863569444	0	Integral membrane protein	BrainSpLMD|2487;Eurexp|euxassay_018108|Meckel's cartilage, adrenal gland, aorta, chondrocranium, clavicle, cortex, dorsal grey horn, epithelium, incisor, intermediate grey horn, mandible, marginal layer, maxilla, mitral valve, molar, orbito-sphenoid, penis, petrous part, rib, spleen primordium, sternum, testis, tricuspid valve, ventricular layer;BrainSpMouseDev|20141	OMIM|605083
Mural	EPAS1	3.769952515	0	Transcription factor	BrainSpLMD|2034;Eurexp|euxassay_003082|adrenal gland, calyces, embryo, limb, vertebral axis muscle system;BrainSpMouseDev|13597	OMIM|603349;COSMIC||paraganglioma, pheochromocytoma, central nervous system hemangioblastomas, type 3 familial erythrocytosis;HPO|2034|Autosomal dominant inheritance, Increased hematocrit, Increased hemoglobin
Mural	IFITM3	3.768512895	0	Integral membrane protein	BrainSpLMD|10410;Eurexp|euxassay_004558|pancreas, submandibular gland primordium, thymus primordium	OMIM|605579
Mural	GPER1	3.764619369	0	G protein coupled receptor	BrainSpLMD|2852	OMIM|601805
Mural	GPR116	3.762112243	0			
Mural	TNS1	3.74211591	0	Adhesion molecule	BrainSpLMD|7145	OMIM|600076
Mural	ZIC1	3.687059681	0	Transcription factor	BrainSpLMD|7545;Eurexp|euxassay_010449|dorsal grey horn, mantle layer, marginal layer, meninges, neural retina, ventricular layer;BrainSpMouseDev|22528	OMIM|600470;HPO|7545|Agenesis of corpus callosum, Arnold-Chiari malformation, Autosomal dominant inheritance, Brachycephaly, Broad forehead, Cerebellar atrophy, Coronal craniosynostosis, Craniosynostosis, Facial asymmetry, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hypertelorism, Increased intracranial pressure, Intellectual disability, moderate, Intellectual disability, severe, Oxycephaly, Papilledema, Plagiocephaly, Proptosis, Sagittal craniosynostosis, Strabismus, Underdeveloped supraorbital ridges, Visual field defect
Mural	GNG11	3.678449773	0	G protein	BrainSpLMD|2791	OMIM|604390
Mural	ATP1A2	3.659255738	0	ATPase	BrainSpLMD|477;Eurexp|euxassay_001505|brain, cervical, cervico-thoracic, cochlea, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mesenchyme, naris, neural retina, spinal cord, stroma, thoracic, tongue, trigeminal V, turbinate bones, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|62830	OMIM|182340;HPO|477|Abnormality of movement, Aphasia, Apraxia, Ataxia, Autosomal dominant inheritance, Blurred vision, Choreoathetosis, Coma, Confusion, Diplopia, Drowsiness, Dysarthria, Dysphasia, Dystonia, Episodic ataxia, Episodic hemiplegia, Episodic quadriplegia, Fever, Generalized tonic-clonic seizures, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Heterogeneous, Incomplete penetrance, Intellectual disability, Mental deterioration, Migraine with aura, Nystagmus, Seizures, Transient unilateral blurring of vision, Vertigo
Mural	COX7A1	3.641411807	0	Enzyme: Oxidoreductase	BrainSpLMD|1346	OMIM|123995
Mural	ARHGAP42	3.608633521	0			OMIM|615936
Mural	ARHGDIB	3.57263119	0	Adapter molecule	BrainSpLMD|397;Eurexp|euxassay_002360|brain, dorsal root ganglion, spinal cord, thymus primordium, trigeminal V	OMIM|602843
Mural	ARHGAP29	3.570998385	0	GTPase activating protein	BrainSpLMD|9411;Eurexp|euxassay_002013|meninges, oral epithelium	OMIM|610496
Mural	CYTH3	3.559425171	0	Guanine nucleotide exchange factor	BrainSpLMD|9265	OMIM|605081
Mural	MCAM	3.521853784	0	Adhesion molecule	BrainSpLMD|4162	OMIM|155735
Mural	GGT5	3.496681789	0	Enzyme: Transferase	BrainSpLMD|2687	OMIM|137168
Mural	IGFBP7	3.48318173	0	Adhesion molecule	BrainSpLMD|3490;BrainSpMouseDev|29552	OMIM|602867;HPO|3490|Autosomal recessive inheritance, Exudative retinal detachment, Pulmonic stenosis, Retinal arterial macroaneurysms
Mural	TFPI	3.453094895	0	Protease inhibitor	BrainSpLMD|7035;Eurexp|euxassay_012616|meninges	OMIM|152310
Mural	SLC12A2	3.43990107	0	Membrane transport protein	BrainSpLMD|6558;Eurexp|euxassay_008837|cortex, incisor, left lung, midgut, olfactory, pharyngo-tympanic tube, rectum, right lung, stomach, submandibular gland primordium;BrainSpMouseDev|20258	OMIM|600840
Mural	LAMC1	3.397950856	0	Extracellular matrix protein	BrainSpLMD|3915	OMIM|150290
Mural	RBMS3	3.318111319	0	RNA binding protein	BrainSpLMD|27303	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605786
Mural	RNF152	3.315558613	0	Ubiquitin proteasome system protein	BrainSpLMD|220441	OMIM|616512
Mural	PDE8B	3.2723777	0	Enzyme: Phosphodiesterase	BrainSpLMD|8622;Eurexp|euxassay_003225|adrenal gland, anterior, calyces, dermis, dorsal grey horn, mesenchyme, pancreas, posterior, skin, turbinate bones, ventral grey horn	OMIM|603390;HPO|8622|Adrenal hyperplasia, Autosomal dominant inheritance, Bradykinesia, Degeneration of the striatum, Diabetes mellitus, Dysarthria, Dysdiadochokinesis, Dysphagia, Fatigue, Gait disturbance, Hypertension, Hypogonadism, Hypokinesia, Increased circulating cortisol level, Increased susceptibility to fractures, Lower limb hyperreflexia, Muscle weakness, Osteoporosis, Pigmented micronodular adrenocortical disease, Rigidity, Short stature, Skeletal muscle atrophy, Slender build, Slow progression, Striae distensae, Symmetric lesions of the basal ganglia, Thin skin
Mural	PEAR1	3.248097971	0	Integral membrane protein		OMIM|610278
Mural	SLC2A3	3.214392344	0	Membrane transport protein	BrainSpLMD|6515	OMIM|138170;HPO|6515|Abnormality of movement, Abnormality of the voice, Behavioral abnormality, Cerebral cortical atrophy, Dementia, Developmental regression, EEG abnormality, Spasticity
Mural	SPARCL1	3.191792884	0	Secreted polypeptide	BrainSpLMD|8404	SFARI||Autism, 3 - Suggestive evidence;OMIM|606041
Mural	S100A11	3.184143509	0	Calcium binding protein	BrainSpLMD|6282	OMIM|603114
Mural	SLC12A7	3.167662883	0	Membrane transport protein	BrainSpLMD|10723;Eurexp|euxassay_009467|trigeminal V, vestibulocochlear VIII	OMIM|604879
Mural	CALD1	3.16074798	0	Cytoskeletal associated protein	BrainSpLMD|800	OMIM|114213
Mural	UACA	3.158287899	0	Unclassified	BrainSpLMD|55075	OMIM|612516
Mural	MYH9	3.157209803	0	Structural protein	BrainSpLMD|4627;Eurexp|euxassay_009371|cornea, hindgut, lung, metanephros, midgut, molar, naris, olfactory, pharyngo-tympanic tube, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trachea, vibrissa;BrainSpMouseDev|17653	OMIM|160775;COSMIC||ALCL, Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome;HPO|4627|Abnormal thrombosis, Abnormality of the eye, Abnormality of the urinary system, Autosomal dominant inheritance, Bruising susceptibility, Cataract, Congenital cataract, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Hematuria, High-frequency hearing impairment, High-frequency sensorineural hearing impairment, Hypertension, Juvenile onset, Leukocyte inclusion bodies, Macrothrombocytopenia, Menorrhagia, Microscopic hematuria, Myocardial infarction, Nephritis, Neutrophil inclusion bodies, Progressive sensorineural hearing impairment, Prolonged bleeding time, Proteinuria, Stage 5 chronic kidney disease, Thrombocytopenia
Mural	MYOF	3.132649049	0	Integral membrane protein	BrainSpLMD|26509	OMIM|604603
Mural	NR2F2	3.067912894	0	Nuclear receptor	BrainSpLMD|7026;Eurexp|euxassay_018442|cortex, ductus deferens, extrinsic ocular muscle, incisor, lip, lung, mantle layer, metanephros, metatarsus, molar, oesophagus, stomach, submandibular gland primordium, tongue, trachea, trigeminal V, turbinate bones, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|11606	OMIM|107773;HPO|7026|Aortic valve stenosis, Atrioventricular canal defect, Autosomal dominant inheritance, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect
Mural	LHFP	3.052329679	0			
Mural	TJP1	2.986063201	0	Cell junction protein	BrainSpLMD|7082;Eurexp|euxassay_018809|brain, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, left lung, meninges, metanephros, right lung, spinal cord, trigeminal V	OMIM|601009
Mural	LGALS1	2.96074409	0	Ligand	BrainSpLMD|3956;Eurexp|euxassay_004032|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|16623	OMIM|150570
Mural	OLFML3	2.914550234	0	Extracellular matrix protein	BrainSpLMD|56944;Eurexp|euxassay_000583|Meckel's cartilage, calyces, chondrocranium, foregut-midgut junction, hindgut, incisor, midgut, molar, pelvis, skeleton, stomach	OMIM|610088
Mural	SPARC	2.852617156	0	Secreted polypeptide	BrainSpLMD|6678;BrainSpMouseDev|20454	OMIM|182120;HPO|6678|Autosomal recessive inheritance, Decreased muscle mass, Delayed speech and language development, Motor delay, Muscle weakness, Muscular hypotonia, Osteoporosis, Scoliosis, Short stature, Soft skin, Thin metacarpal cortices, Vertebral compression fractures
Mural	AXL	2.75857279	0	Receptor tyrosine kinase	BrainSpLMD|558;Eurexp|euxassay_001756|cardiovascular system, gland, head mesenchyme, integumental system, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|26110	OMIM|109135;HPO|558|Autosomal dominant inheritance, Autosomal recessive inheritance, Cryptorchidism, Decreased testicular size, Gynecomastia, Hypogonadotrophic hypogonadism, Micropenis, Primary amenorrhea, Sparse axillary hair, Sparse pubic hair
Mural	PLXDC1	2.757140565	0	Cell surface receptor	BrainSpLMD|57125	OMIM|606826
Mural	B2M	2.723680771	0	MHC complex protein	BrainSpLMD|567	OMIM|109700;COSMIC||DLBCL, melanoma, colorectal adenocarcinoma, Immunodeficiency 43;HPO|567|Autonomic bladder dysfunction, Autonomic dysregulation, Autosomal dominant inheritance, Autosomal recessive inheritance, Bowel incontinence, Bronchiectasis, Cholestasis, Chronic constipation, Chronic diarrhea, Edema, Gastrointestinal dysmotility, Gastrointestinal hemorrhage, Generalized amyloid deposition, Hematuria, Hepatomegaly, Hypertension, Hypoalbuminemia, Hypoplasia of the ulna, Hypoproteinemia, IgG deficiency, Intermittent diarrhea, Keratoconjunctivitis sicca, Malabsorption, Nephropathy, Nephrotic syndrome, Orthostatic hypotension due to autonomic dysfunction, Proteinuria, Radial bowing, Recurrent respiratory infections, Skin rash, Splenomegaly, Variable expressivity, Vertigo, Weight loss, Xerostomia
Mural	MYO1B	2.550535003	0	Motor protein	BrainSpLMD|4430;Eurexp|euxassay_006192|mantle layer, olfactory, ventricular layer	OMIM|606537
Mural	ESAM	2.378062883	0	Immunoglobulin	BrainSpLMD|90952;Eurexp|euxassay_012134|embryo	OMIM|614281
Mural	DCN	2.352075929	0	Extracellular matrix protein	BrainSpLMD|1634;BrainSpMouseDev|12959	OMIM|125255;HPO|1634|Autosomal dominant inheritance, Congenital corneal dystrophy, Increased corneal thickness, Progressive visual loss
Mural	A2M	2.297443604	0	Protease inhibitor	BrainSpLMD|2;Eurexp|euxassay_008556|adrenal gland, choroid plexus, lobe, lung, meninges, mesenchyme, neural retina, ventricular layer, vibrissa;BrainSpMouseDev|87409	OMIM|103950;HPO|2|Autosomal dominant inheritance
Mural	PTEN	2.263593728	0	Lipid phosphatase	BrainSpLMD|5728;BrainSpMouseDev|18974	SFARI||Autism, 1 - High confidence;OMIM|601728;COSMIC||glioma, prostate, endometrial, harmartoma, glioma, prostate, endometrial;HPO|5728|Abnormal form of the vertebral bodies, Abnormal heart morphology, Abnormal lung lobation, Abnormal subcutaneous fat tissue distribution, Abnormal vertebral morphology, Abnormality of metabolism/homeostasis, Abnormality of the eye, Abnormality of the fallopian tube, Abnormality of the large intestine, Abnormality of the parathyroid gland, Abnormality of the penis, Abnormality of the pupil, Abnormality of the vasculature, Abnormally prominent line of Schwalbe, Absent thumb, Acanthosis nigricans, Acrokeratosis, Adenoma sebaceum, Adult onset, Amblyopia, Anal atresia, Angioid streaks of the retina, Angiokeratoma, Aqueductal stenosis, Arteriovenous malformation, Asymmetry of the thorax, Ataxia, Atypical nevi in non-sun exposed areas, Atypical nevus, Autism, Autosomal dominant inheritance, Autosomal recessive inheritance, Biparietal narrowing, Birth length greater than 97th percentile, Breast carcinoma, Broad forehead, Bronchogenic cyst, Cachexia, Cafe-au-lait spot, Calvarial hyperostosis, Capillary hemangiomas, Cataract, Cavernous hemangioma, Cognitive impairment, Colonic diverticula, Colorectal polyposis, Communicating hydrocephalus, Conjunctival hamartoma, Cranial nerve paralysis, Cutaneous melanoma, Decreased muscle mass, Delayed gross motor development, Delayed speech and language development, Depressed nasal bridge, Disproportionate tall stature, Dolichocephaly, Downslanted palpebral fissures, Endometrial carcinoma, Enlarged cerebellum, Epibulbar dermoid, Epidermal nevus, Excessive wrinkled skin, Exostoses, Fibroadenoma of the breast, Finger syndactyly, Follicular thyroid carcinoma, Frontal bossing, Furrowed tongue, Generalized hyperkeratosis, Generalized hypotonia, Genu recurvatum, Global developmental delay, Goiter, Gynecomastia, Hamartomatous polyposis, Hand polydactyly, Hashimoto thyroiditis, Headache, Hearing impairment, Hemangioma, Hematochezia, Heterochromia iridis, High palate, Hydrocele testis, Hydrocephalus, Hyperostosis, Hypertelorism, Hyperthyroidism, Hypoglycemia, Hypoplasia of the maxilla, Hypothyroidism, Increased intracranial pressure, Intellectual disability, Intellectual disability, mild, Intention tremor, Intestinal polyposis, Intraocular melanoma, Intussusception, Irregular hyperpigmentation, Joint hypermobility, Juvenile onset, Kyphosis, Lipoma, Long penis, Long philtrum, Lower limb asymmetry, Lymphangioma, Lymphedema, Macrocephaly, Macrodactyly, Macroglossia, Macrotia, Macule, Mandibular prognathia, Melanocytic nevus, Meningioma, Micrognathia, Mucosal telangiectasiae, Multiple cafe-au-lait spots, Multiple lipomas, Myopathy, Myopia, Narrow mouth, Nausea and vomiting, Neoplasm of the breast, Neoplasm of the thyroid gland, Nevus, Non-medullary thyroid carcinoma, Numerous nevi, Obesity, Open bite, Ovarian cyst, Ovarian neoplasm, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Papilloma, Papule, Pectus excavatum, Polymicrogyria, Postnatal growth retardation, Postnatal macrocephaly, Primary peritoneal carcinoma, Progressive macrocephaly, Pseudopapilledema, Pulmonary embolism, Radial club hand, Reduced bone mineral density, Renal hypoplasia, Respiratory failure, Retinal detachment, Round face, Scoliosis, Seizures, Shagreen patch, Short nose, Short stature, Skeletal dysplasia, Skin tags, Squamous cell carcinoma, Stillbirth, Strabismus, Subcutaneous hemorrhage, Subcutaneous lipoma, Subcutaneous nodule, Supernumerary nipple, Thick corpus callosum, Thrombophlebitis, Thyroid adenoma, Thyroiditis, Transitional cell carcinoma of the bladder, Trichilemmoma, Upper limb asymmetry, Varicocele, Vascular skin abnormality, Venous insufficiency, Visceral angiomatosis
Mural	FSTL1	2.132864337	0	Protease inhibitor	Eurexp|euxassay_003685|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail;BrainSpMouseDev|14090	OMIM|605547
Mural	PTN	2.021398451	0	Cytokine	BrainSpLMD|5764	OMIM|162095
Mural	LUM	1.171191207	0	Extracellular matrix protein	BrainSpLMD|4060;Eurexp|euxassay_001718|bladder, clavicle, cochlea, dermis, diaphragm, fundus region, head mesenchyme, hindgut, meninges, midgut, rib, skeletal muscle, stomach, vertebral axis muscle system	OMIM|600616
Mural	COL3A1	1.033288461	0	Extracellular matrix protein	BrainSpLMD|1281;Eurexp|euxassay_004670|alimentary system, cardiovascular system, gland, integumental system, meninges, renal/urinary system, reproductive system, respiratory system;BrainSpMouseDev|12608	OMIM|120180;COSMIC||lipoblastoma;HPO|1281|Abnormality of oral frenula, Abnormality of the eyelashes, Abnormality of the urinary system, Absent earlobe, Alopecia of scalp, Aortic dissection, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Arterial dissection, Arteriovenous fistulas of celiac and mesenteric vessels, Autosomal dominant inheritance, Bladder diverticulum, Bruising susceptibility, Carious teeth, Cigarette-paper scars, Cognitive impairment, Convex nasal ridge, Cryptorchidism, Dermal translucency, Dilatation of the cerebral artery, Epicanthus, Excessive wrinkled skin, Fine hair, Flat face, Foot acroosteolysis, Fragile skin, Gastrointestinal infarctions, Glaucoma, Global developmental delay, Hemoptysis, Hyperextensible skin, Hypermobility of distal interphalangeal joints, Hypertelorism, Hypokalemia, Inguinal hernia, Intellectual disability, Internal hemorrhage, Irregular hyperpigmentation, Joint dislocation, Joint hyperflexibility, Joint hypermobility, Joint laxity, Keratoconus, Lipoatrophy, Macule, Melanocytic nevus, Micrognathia, Mitral valve prolapse, Molluscoid pseudotumors, Osteoarthritis, Osteolytic defects of the phalanges of the hand, Pectus excavatum, Periodontitis, Peripheral arteriovenous fistula, Pneumothorax, Premature birth, Premature delivery because of cervical insufficiency or membrane fragility, Premature loss of teeth, Proptosis, Protruding ear, Respiratory insufficiency, Scoliosis, Short foot, Short stature, Small hand, Soft skin, Spontaneous pneumothorax, Sprengel anomaly, Striae distensae, Talipes equinovarus, Telangiectasia of the skin, Telecanthus, Thin skin, Thin vermilion border, Uterine prolapse, Varicose veins
Mural	COL1A2	0.809496406	0	Extracellular matrix protein	BrainSpLMD|1278;Eurexp|euxassay_004456|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, renal/urinary system, reproductive system, respiratory system, skeleton, tail, vertebral axis muscle system	OMIM|120160;HPO|1278|Abnormality of pelvic girdle bone morphology, Abnormality of the nervous system, Abnormality of the thorax, Absent ossification of calvaria, Aortic regurgitation, Atrophic scars, Autosomal dominant inheritance, Autosomal recessive inheritance, Basilar impression, Beaded ribs, Biconcave flattened vertebrae, Biconcave vertebral bodies, Blue sclerae, Bowing of limbs due to multiple fractures, Breech presentation, Broad long bones, Bruising susceptibility, Calcaneovalgus deformity, Congenital bilateral hip dislocation, Congestive heart failure, Convex nasal ridge, Crumpled long bones, Decreased calvarial ossification, Delayed gross motor development, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Excessive wrinkled skin, Femoral bowing present at birth, straightening with time, Frontal bossing, Gastroesophageal reflux, Generalized hypotonia, Genu recurvatum, Hearing impairment, Hernia, Hyperextensible skin, Increased susceptibility to fractures, Inguinal hernia, Joint hyperflexibility, Joint laxity, Kyphosis, Large fontanelles, Malar flattening, Micrognathia, Midface retrusion, Mild short stature, Mitral regurgitation, Mitral valve prolapse, Multiple prenatal fractures, Muscle weakness, Neonatal short-limb short stature, Nonimmune hydrops fetalis, Osteopenia, Otosclerosis, Pectus excavatum, Pes planus, Platybasia, Platyspondyly, Poor wound healing, Premature birth, Premature osteoarthritis, Protrusio acetabuli, Pulmonary arterial hypertension, Pulmonary insufficiency, Recurrent fractures, Reduced bone mineral density, Respiratory insufficiency, Scoliosis, Severe generalized osteoporosis, Short stature, Slender long bone, Small for gestational age, Soft skin, Subcutaneous hemorrhage, Thin skin, Tibial bowing, Triangular face, Wide anterior fontanel, Wormian bones
Mural	ANPEP	4.385373697	1.11E-16	Metallo protease	BrainSpLMD|290;Eurexp|euxassay_004850|calyces, cortex, hindgut, left, loop, mandible, maxilla, meninges, mesenchyme, midgut, rectum, right, stomach	OMIM|151530
Mural	MGLL	2.796567605	1.11E-16	Enzyme: Lipase	BrainSpLMD|11343;Eurexp|euxassay_002003|Meckel's cartilage, dorsal grey horn, dorsal root ganglion, foregut-midgut junction, hindgut, lobe, mantle layer, marginal layer, midgut, oesophagus, pancreas, stomach, ventricular layer, vibrissa	OMIM|609699
Mural	GJC1	2.613806448	1.11E-16	Transport/cargo protein	BrainSpLMD|10052;Eurexp|euxassay_012257|cortex, incisor, mantle layer, trachea, ventricular layer	OMIM|608655
Mural	GUCY1A2	2.270289692	1.11E-16	Guanylate cyclase	BrainSpLMD|2977	SFARI||Autism, 4 - Minimal evidence;OMIM|601244
Mural	RP11.10C8.2	3.673148207	3.33E-16			
Mural	CD300A	3.405490096	3.33E-16	Immunoglobulin	BrainSpLMD|11314	OMIM|606790
Mural	S1PR3	3.391670367	8.88E-16	G protein coupled receptor		OMIM|601965
Mural	APLNR	2.001276149	9.99E-16	G protein coupled receptor	BrainSpLMD|187	OMIM|600052
Mural	CD9	3.398857133	1.11E-15	Unclassified	BrainSpLMD|928;Eurexp|euxassay_001933|axial skeleton, bladder, calyces, cervical, cervico-thoracic, foregut-midgut junction, hindgut, lung, midgut, nucleus pulposus, oesophagus, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, rectum, stomach, submandibular gland primordium, thoracic, thymus primordium, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|12312	OMIM|143030
Mural	LPP	2.370575703	1.55E-15	Unclassified	BrainSpLMD|4026	OMIM|600700;COSMIC||lipoma, leukaemia
Mural	PLOD1	2.794141972	1.67E-15	Enzyme: Hydroxylase	BrainSpLMD|5351;Eurexp|euxassay_002758|axial skeleton, brain, clavicle, femur, humerus, intervertebral disc, lumbar region, mesenchyme, nasal septum, otic capsule, rib, sacral region, skeleton, thoracic region, trachea, turbinate bones, ventricular layer, vertebral cartilage condensation	OMIM|153454;HPO|5351|Abnormality of metabolism/homeostasis, Abnormality of the hip bone, Aortic dissection, Arachnodactyly, Arterial dissection, Arterial rupture, Atypical scarring of skin, Autosomal recessive inheritance, Bladder diverticulum, Blindness, Blue sclerae, Bruising susceptibility, Congestive heart failure, Decreased fetal movement, Decreased pulmonary function, Dental crowding, Depressed nasal bridge, Disproportionate tall stature, Epicanthus, Gait disturbance, Gastrointestinal hemorrhage, Generalized hypotonia, Generalized joint laxity, Glaucoma, Hyperextensible skin, Inguinal hernia, Joint dislocation, Joint hyperflexibility, Joint laxity, Keratoconus, Kyphosis, Microcornea, Mitral valve prolapse, Molluscoid pseudotumors, Motor delay, Myopia, Neonatal hypotonia, Osteoporosis, Palmoplantar cutis laxa, Pes planus, Premature rupture of membranes, Progressive congenital scoliosis, Recurrent pneumonia, Respiratory insufficiency, Retinal detachment, Retinopathy, Scoliosis, Soft skin, Spontaneous rupture of the globe, Subcutaneous hemorrhage, Talipes equinovarus, Tall stature, Thin skin, Visual impairment
Mural	KANK2	3.047746706	2.33E-15	Structural protein	BrainSpLMD|25959	OMIM|614610;HPO|25959|Autosomal recessive inheritance, Palmoplantar keratoderma, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Sparse scalp hair, Woolly hair, Woolly scalp hair
Mural	SERPINH1	2.310293175	3.00E-15	Heat shock protein	BrainSpLMD|871	OMIM|600943;HPO|871|Autosomal recessive inheritance, Blue sclerae, Broad ribs, Chronic lung disease, Dentinogenesis imperfecta, Generalized hypotonia, Generalized joint laxity, Genu valgum, High forehead, High pitched voice, Inguinal hernia, Joint laxity, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Narrow chest, Narrow forehead, Nephrolithiasis, Osteopenia, Platyspondyly, Prominent forehead, Pyloric stenosis, Relative macrocephaly, Scoliosis, Shallow orbits, Short stature, Thin ribs, Triangular face, Vertebral compression fractures
Mural	SPRY1	2.525862871	3.11E-15	Unclassified	BrainSpLMD|10252	OMIM|602465
Mural	DNAJB4	2.355561743	5.22E-15	Heat shock protein	BrainSpLMD|11080	OMIM|611327
Mural	CCDC102B	3.977335183	6.11E-15	Unclassified	BrainSpLMD|79839	
Mural	AMOTL1	2.38413316	6.22E-15	Cell junction protein	BrainSpLMD|154810;BrainSpMouseDev|51564	OMIM|614657
Mural	COL18A1	3.278989562	6.44E-15	Extracellular matrix protein	BrainSpLMD|80781;Eurexp|euxassay_003864|adenohypophysis, bladder, brain, cochlea, cornea, epidermis, genital tubercle, heart, incisor, lung, meninges, mesenchyme, metanephros, molar, naris, olfactory, pharyngo-tympanic tube, respiratory, retina, spinal cord, thymus primordium, tongue, urethra, urethral groove;BrainSpMouseDev|12605	OMIM|120328;HPO|80781|Abnormality of the vitreous humor, Ataxia, Autosomal recessive inheritance, Band keratopathy, Calvarial skull defect, Cerebellar atrophy, Cerebral atrophy, Congenital cataract, Hydrocephalus, Macular degeneration, Macular hypoplasia, Myopia, Nystagmus, Occipital encephalocele, Phenotypic variability, Phthisis bulbi, Polymicrogyria, Progressive visual loss, Retinal detachment, Seizures, Severe Myopia, Ventriculomegaly, Visual loss, Vitreoretinal degeneration
Mural	ADAM12	3.13163395	6.55E-15	Metallo protease	BrainSpLMD|8038;Eurexp|euxassay_007599|associated mesenchyme, axial skeleton, bladder, clavicle, diaphragm, femur, fibula, humerus, mandible, maxilla, meninges, mesenchyme, mesentery, metanephros, nasal septum, orbito-sphenoid, peritoneal cavity, radius, rest of mesenchyme, rib, tibia, turbinate bones, ulna, vascular element, vault of skull	OMIM|602714
Mural	GUCY1B3	2.817337602	7.11E-15			
Mural	STOM	2.748783961	7.22E-15	Integral membrane protein	BrainSpLMD|2040;Eurexp|euxassay_005540|bladder, hindgut, left, midgut, rectum, right, wall	OMIM|133090;HPO|2040|Autosomal dominant inheritance, Hemolytic anemia, Hepatomegaly, Hyperbilirubinemia, Increased intracellular sodium, Increased red cell osmotic fragility, Jaundice, Reticulocytosis, Splenomegaly, Stomatocytosis
Mural	MIR143HG	3.222487177	7.66E-15			
Mural	PALD1	3.08851303	9.44E-15	Unclassified	BrainSpLMD|27143;Eurexp|euxassay_007695|brain, incisor, mandible, maxilla, molar, palatal shelf, spinal cord, ventricular layer, vibrissa	OMIM|614656
Mural	AVPR1A	4.865100571	9.77E-15	G protein coupled receptor	BrainSpLMD|552;Eurexp|euxassay_010604|lip;BrainSpMouseDev|33433	SFARI||Autism, 3 - Suggestive evidence;OMIM|600821
Mural	FOXC1	3.076419388	9.77E-15	Transcription factor	BrainSpLMD|2296;Eurexp|euxassay_012742|meninges, mesenchyme, nasal cavity, nasal septum, otic capsule, submandibular gland primordium, turbinate bones;BrainSpMouseDev|17069	OMIM|601090;HPO|2296|Abnormal iris vasculature, Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Aniridia, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the macula, Atrial septal defect, Autosomal dominant inheritance, Axenfeld anomaly, Cataract, Cerebellar vermis hypoplasia, Concave nasal ridge, Ectopia pupillae, Everted lower lip vermilion, Glaucoma, Hearing impairment, Heterogeneous, Hypertelorism, Hypodontia, Hypoplasia of the iris, Hypoplastic iris stroma, Malar flattening, Microdontia, Midface retrusion, Nystagmus, Patent ductus arteriosus, Peters anomaly, Posterior embryotoxon, Proptosis, Rieger anomaly, Sensorineural hearing impairment, Visual loss
Mural	ZFP36L1	1.787665793	1.51E-14	Transcription factor	BrainSpLMD|677;Eurexp|euxassay_007310|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|11978	OMIM|601064
Mural	PDZD2	3.130827057	1.52E-14	Unclassified	BrainSpLMD|23037;BrainSpMouseDev|43913	OMIM|610697
Mural	ITPR1	3.08509393	1.69E-14	Intracellular ligand gated channel	BrainSpLMD|3708;Eurexp|euxassay_006317|choroid invagination, choroid plexus, roof plate;BrainSpMouseDev|16211	SFARI||Autism, 4 - Minimal evidence;OMIM|147265;HPO|3708|Abnormality of movement, Aniridia, Ataxia, Autosomal recessive inheritance, Cerebellar hypoplasia, Global developmental delay, Hypoplasia of the iris, Intellectual disability, Mask-like facies, Motor delay, Muscular hypotonia, Nystagmus, Postural tremor, Scanning speech, Slurred speech, Visual impairment
Mural	ARHGAP26	3.012914074	1.78E-14	GTPase activating protein	BrainSpLMD|23092;Eurexp|euxassay_016565|mantle layer, olfactory	OMIM|605370;COSMIC||AML, MDS;HPO|23092|Autosomal dominant inheritance, Juvenile myelomonocytic leukemia, Somatic mutation
Mural	RP11.71N10.1	2.269992422	2.01E-14			
Mural	CERKL	3.524252402	2.36E-14	Lipid Kinase	BrainSpLMD|375298	OMIM|608381;HPO|375298|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Attenuation of retinal blood vessels, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Undetectable light- and dark-adapted electroretinogram, Visual impairment, Wide nasal bridge
Mural	CFH	4.409112624	2.40E-14	Regulatory/other subunit	BrainSpLMD|3075;Eurexp|euxassay_008425|bladder, clavicle, cortex, femur, fibula, humerus, mandible, mantle layer, maxilla, medulla, medullary stroma, meninges, mesenchyme, orbito-sphenoid, rib, scapula, thymus primordium, tibia, trabeculae carneae	OMIM|134370;HPO|3075|Autosomal dominant inheritance, Autosomal recessive inheritance, Chronic kidney disease, Decreased serum complement factor H, Depletion of components of the alternative complement pathway, Glomerular subendothelial electron-dense deposits, Hematuria, Juvenile onset, Phenotypic variability, Progressive visual loss, Recurrent bacterial infections, Thickening of the glomerular basement membrane
Mural	SPATS2L	1.948209469	2.94E-14	Unclassified	BrainSpLMD|26010;Eurexp|euxassay_013635|bladder, exoccipital bone, mantle layer, mesenchyme, oesophagus, orbito-sphenoid, penis, pharyngo-tympanic tube, tongue, turbinate, vertebral axis muscle system, vibrissa	OMIM|613817
Mural	EPB41L2	2.778602496	3.53E-14	Cytoskeletal protein	BrainSpLMD|2037;Eurexp|euxassay_010082|calyces, clavicle, femur, fibula, fundus region, lens, lung, mandible, maxilla, meninges, olfactory, orbito-sphenoid, pelvis, rib, roof plate, tibia, ureter	OMIM|603237
Mural	TMEM204	3.53328404	3.75E-14	Cell junction protein;Unclassified	BrainSpLMD|79652	OMIM|611002
Mural	RP11.588K22.2	3.111576744	3.76E-14			
Mural	TNS3	2.731465018	5.37E-14	Integral membrane protein;Cell surface receptor	BrainSpLMD|64759;Eurexp|euxassay_014013|axial skeleton, ductus deferens, exoccipital bone, mandible, maxilla, mesenchyme, nasal septum, orbito-sphenoid, spleen primordium, trachea, turbinate, vibrissa	OMIM|606825
Mural	JUNB	2.53071025	5.70E-14	Transcription factor	BrainSpLMD|3726	OMIM|165161
Mural	AGRN	1.712014947	6.29E-14	Extracellular matrix protein		OMIM|103320;HPO|375790|Autosomal recessive inheritance, Easy fatigability, Facial palsy, Narrow chest, Proximal muscle weakness, Ptosis, Variable expressivity
Mural	CHST2	3.539864621	7.37E-14	Enzyme: Sulphotransferase	BrainSpLMD|9435;Eurexp|euxassay_012897|head mesenchyme, incisor, lip, mantle layer, mesenchyme, molar, pancreas, submandibular gland primordium, ventral grey horn, ventricular layer;BrainSpMouseDev|33662	OMIM|603798
Mural	HEY2	3.749393643	9.46E-14	Transcription factor	BrainSpLMD|23493;Eurexp|euxassay_008923|aorta, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, rest of skin, trigeminal V, vagus X, ventricle, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|14990	OMIM|604674
Mural	STARD13	3.338541264	9.58E-14	GTPase activating protein	BrainSpLMD|90627	OMIM|609866
Mural	CPE	1.812114551	1.02E-13	Carboxypeptidase	BrainSpLMD|1363	OMIM|114855
Mural	PAPSS2	3.760535309	1.29E-13	Enzyme: Ligase	BrainSpLMD|9060;Eurexp|euxassay_005940|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, digit 1, digit 2, digit 3, digit 4, digit 5, exoccipital bone, femur, fibula, footplate, handplate, humerus, hyoid bone, naris, nasal septum, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones, valve, vault of skull	OMIM|603005;HPO|9060|Acne, Autosomal recessive inheritance, Bowing of the legs, Brachydactyly, Hirsutism, Irregular vertebral endplates, Kyphoscoliosis, Lower limb undergrowth, Lumbar scoliosis, Platyspondyly, Premature pubarche, Secondary amenorrhea, Short stature, Spondyloepimetaphyseal dysplasia
Mural	PDE8A	3.162886179	1.50E-13	Enzyme: Phosphodiesterase	BrainSpLMD|5151;Eurexp|euxassay_001451|axial skeleton, cranium, pectoral girdle and thoracic body wall, turbinate bones	OMIM|602972
Mural	SLC30A10	2.885116058	2.62E-13	Transport/cargo protein	BrainSpLMD|55532	OMIM|611146;HPO|55532|Autosomal recessive inheritance, Bradykinesia, Cirrhosis, Decreased liver function, Dysarthria, Dystonia, Elevated hepatic transaminases, Hepatomegaly, Increased total iron binding capacity, Parkinsonism, Polycythemia, Poor fine motor coordination, Postural instability, Rigidity, Tremor, Variable expressivity
Mural	ZEB1	2.253636221	2.94E-13	Transcription factor	BrainSpLMD|6935;Eurexp|euxassay_015398|central nervous system, meninges, vertebral axis muscle system;BrainSpMouseDev|21178	OMIM|189909;COSMIC||CCRCC, melanoma;HPO|6935|Autosomal dominant inheritance, Corneal dystrophy, Corneal guttata
Mural	C16orf80	2.036283752	3.06E-13			
Mural	ARHGAP26.IT1	3.382485572	3.30E-13			
Mural	FRMD6	3.2828324	3.36E-13	Unclassified	BrainSpLMD|122786;Eurexp|euxassay_002791|basal plate, lung, submandibular gland primordium, thymus primordium, vibrissa	OMIM|614555
Mural	TBXA2R	2.828150699	3.73E-13	G protein coupled receptor	BrainSpLMD|6915	OMIM|188070
Mural	CDH11	2.539877	3.84E-13	Cell junction protein	BrainSpLMD|1009;BrainSpMouseDev|12337	SFARI||Autism, No category;OMIM|600023;COSMIC||aneurysmal bone cyst
Mural	4-Sep	3.064942294	4.36E-13			
Mural	MXRA5	3.648499384	5.40E-13	Unclassified	BrainSpLMD|25878	OMIM|300938
Mural	MYLK	3.548742025	6.24E-13	Serine/threonine kinase	BrainSpLMD|4638;BrainSpMouseDev|71754	OMIM|600922;HPO|4638|Abnormality of the iris, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Ascending aortic dissection, Autosomal dominant inheritance, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Exertional dyspnea, Hypertension, Left ventricular failure, Paroxysmal dyspnea
Mural	IFITM2	3.031508804	8.39E-13	Integral membrane protein	BrainSpLMD|10581;Eurexp|euxassay_003572|mantle layer, thymus primordium	OMIM|605578
Mural	SASH1	3.128306733	1.29E-12	Adapter molecule	BrainSpLMD|23328	OMIM|607955
Mural	ADAMTS9	3.441950609	1.30E-12	Metallo protease	BrainSpLMD|56999	OMIM|605421
Mural	JAG1	2.633579269	1.71E-12	Cell surface receptor	BrainSpLMD|182;Eurexp|euxassay_015945|aorta, epidermis, extrinsic ocular muscle, intermediate grey horn, lens, mantle layer, metanephros, pharyngo-tympanic tube, pineal primordium, ventricular layer, vestibular component;BrainSpMouseDev|16222	OMIM|601920;HPO|182|Abnormal nasal morphology, Abnormality of the ribs, Areflexia, Atrial septal defect, Autosomal dominant inheritance, Axenfeld anomaly, Band keratopathy, Brachydactyly, Broad forehead, Butterfly vertebral arch, Cataract, Chorioretinal atrophy, Cirrhosis, Clinodactyly of the 5th finger, Coarctation of aorta, Cryptorchidism, Deeply set eye, Depressed nasal bridge, Dolichocephaly, Elevated hepatic transaminases, Exocrine pancreatic insufficiency, Failure to thrive, Hemivertebrae, Hepatocellular carcinoma, Hypercholesterolemia, Hypertelorism, Hypertriglyceridemia, Hypoplasia of the ulna, Incomplete penetrance, Infantile onset, Intrauterine growth retardation, Long nose, Macrotia, Microcornea, Multiple small medullary renal cysts, Myopia, Papillary thyroid carcinoma, Peripheral pulmonary artery stenosis, Pigmentary retinal deposits, Posterior embryotoxon, Preauricular pit, Prolonged neonatal jaundice, Proptosis, Reduced number of intrahepatic bile ducts, Renal dysplasia, Renal hypoplasia, Renal tubular acidosis, Short distal phalanx of finger, Specific learning disability, Strabismus, Stroke, Tetralogy of Fallot, Thin vermilion border, Triangular face, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Vesicoureteral reflux
Mural	MYL12A	2.037354026	1.84E-12	Calcium binding protein	BrainSpLMD|10627	
Mural	PLAT	3.232892719	1.86E-12	Serine protease	BrainSpLMD|5327	OMIM|173370;HPO|5327|Autosomal dominant inheritance, Hypercoagulability, Recurrent deep vein thrombosis
Mural	LAMB1	2.690238702	2.03E-12	Extracellular matrix protein	BrainSpLMD|3912;Eurexp|euxassay_011018|cochlea, incisor, lung, meninges, metanephros, midgut, molar, pharyngo-tympanic tube, renal/urinary system, sublingual gland primordium, submandibular gland primordium, vibrissa;BrainSpMouseDev|16549	SFARI||Autism, 3 - Suggestive evidence;OMIM|150240;HPO|3912|Abnormality of the cerebral white matter, Autosomal recessive inheritance, Cerebellar hypoplasia, Generalized hypotonia, Gray matter heterotopias, Hydrocephalus, Hypoplasia of the brainstem, Intellectual disability, Leukoencephalopathy, Macrocephaly, Muscular hypotonia, Occipital encephalocele, Porencephalic cyst, Progressive, Seizures, Severe global developmental delay, Spastic paraplegia, Type II lissencephaly, Variable expressivity
Mural	CYSLTR2	5.098515227	2.41E-12	G protein coupled receptor	BrainSpLMD|57105	OMIM|605666;COSMIC||uveal melanoma;HPO|57105|Choroidal melanoma, Ciliary body melanoma, Iris melanoma, Retinal detachment, Visual loss
Mural	RAPGEF4	3.221645928	2.97E-12	Guanine nucleotide exchange factor	BrainSpLMD|11069;Eurexp|euxassay_017162|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	SFARI||Autism, 4 - Minimal evidence;OMIM|606058
Mural	KIAA0247	2.074143384	3.16E-12			
Mural	SPECC1	2.09803735	3.21E-12	Unclassified	BrainSpLMD|92521;Eurexp|euxassay_013924|aorta, liver, molar, ventricular layer	OMIM|608793;COSMIC||JMML
Mural	GUCY1A3	2.41514202	3.23E-12			
Mural	FAM20A	3.11497559	3.89E-12	Secreted polypeptide	BrainSpLMD|54757	OMIM|611062;HPO|54757|Abnormality of calcium-phosphate metabolism, Amelogenesis imperfecta, Autosomal recessive inheritance, Dagger-shaped pulp calcifications, Delayed eruption of permanent teeth, Delayed eruption of teeth, Enuresis, Gingival fibromatosis, Gingival overgrowth, Impaired renal concentrating ability, Intellectual disability, Nephrocalcinosis, Nephropathy, Overgrowth, Polyuria, Pulp stones, Renal insufficiency, Subcutaneous nodule, Yellow-brown discoloration of the teeth
Mural	SYTL2	2.883510912	4.04E-12	Unclassified	BrainSpLMD|54843	OMIM|612880
Mural	VCL	2.55096518	4.58E-12	Cytoskeletal associated protein	BrainSpLMD|7414	OMIM|193065;HPO|7414|Autosomal dominant inheritance, Congestive heart failure, Dilated cardiomyopathy, Dyspnea, Endocardial fibrosis, Hypertrophic cardiomyopathy
Mural	CTSK	2.580503951	4.63E-12	Cysteine protease	BrainSpLMD|1513	OMIM|601105;HPO|1513|Abnormal pelvis bone ossification, Abnormal vertebral morphology, Abnormality of dental morphology, Abnormality of epiphysis morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the fingernails, Abnormality of the thorax, Absent frontal sinuses, Autosomal recessive inheritance, Blue sclerae, Bone pain, Brachycephaly, Brachydactyly, Carious teeth, Delayed eruption of permanent teeth, Delayed eruption of primary teeth, Delayed eruption of teeth, Frontal bossing, High forehead, Hypodontia, Increased bone mineral density, Malar flattening, Micrognathia, Midface retrusion, Narrow palate, Osteolysis, Osteolytic defects of the distal phalanges of the hand, Persistence of primary teeth, Persistent open anterior fontanelle, Prominent nose, Prominent occiput, Proptosis, Recurrent fractures, Ridged nail, Scoliosis, Short distal phalanx of finger, Short stature, Short toe, Skeletal dysplasia, Spondylolisthesis, Spondylolysis, Wormian bones
Mural	EGR1	1.107866671	4.67E-12	Transcription factor	BrainSpLMD|1958;Eurexp|euxassay_008911|mesenchyme;BrainSpMouseDev|13431	OMIM|128990
Mural	F2R	1.833212655	4.72E-12	G protein coupled receptor	BrainSpLMD|2149;Eurexp|euxassay_009165|mesenchyme	OMIM|187930
Mural	TXNIP	2.114489338	9.97E-12	Cell cycle control protein	BrainSpLMD|10628;Eurexp|euxassay_006657|meninges	OMIM|606599
Mural	EPB41L1	1.346299419	1.09E-11	Cytoskeletal associated protein	BrainSpLMD|2036;Eurexp|euxassay_016807|arm, cortex, cranium, dermis, glossopharyngeal IX, head mesenchyme, hindgut, incisor, left lung, leg, loop, lumen, mandible, mantle layer, marginal layer, maxilla, mesenchyme, midgut, phalanx, right lung, stomach, trachea, trigeminal V, ventral grey horn, vertebral axis muscle system	OMIM|602879;HPO|2036|Autosomal dominant inheritance
Mural	RBMS1P1	2.365482542	1.25E-11			
Mural	IGF2	2.782634518	1.30E-11	Growth factor;Ligand	BrainSpLMD|3481;Eurexp|euxassay_007184|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, heart, lung, metanephros, midgut, neural retina, olfactory, respiratory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|15775	OMIM|147470;HPO|3481|Abnormality of the cardiovascular system, Abnormality of the dentition, Abnormality of the foot, Abnormality of the ureter, Accelerated skeletal maturation, Adrenocortical carcinoma, Adrenocortical cytomegaly, Asymmetry of the thorax, Autosomal dominant inheritance, Blue sclerae, Cafe-au-lait spot, Cardiomegaly, Cardiomyopathy, Clinodactyly of the 5th finger, Coarse facial features, Congenital posterior urethral valve, Craniofacial disproportion, Craniopharyngioma, Cryptorchidism, Dandy-Walker malformation, Decreased body weight, Delayed cranial suture closure, Delayed skeletal maturation, Diastasis recti, Downturned corners of mouth, Enlarged kidney, Facial asymmetry, Fasting hypoglycemia, Feeding difficulties in infancy, Frontal bossing, Generalized hypotonia, Global developmental delay, Gonadoblastoma, Growth hormone deficiency, Hemihypertrophy, Hepatoblastoma, Hepatocellular carcinoma, Hepatomegaly, Heterogeneous, Hypospadias, Intellectual disability, mild, Intrauterine growth retardation, Large fontanelles, Low-set ears, Macroglossia, Melanocytic nevus, Micrognathia, Midface retrusion, Motor delay, Neonatal hypoglycemia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Omphalocele, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Posterior helix pit, Prominent forehead, Prominent metopic ridge, Prominent occiput, Proptosis, Relative macrocephaly, Renal cortical cysts, Scoliosis, Short distal phalanx of the 5th finger, Short middle phalanx of the 5th finger, Short stature, Small for gestational age, Somatic mutation, Sporadic, Syndactyly, Testicular seminoma, Triangular face, Vesicoureteral reflux, X-linked recessive inheritance
Mural	LAMB2	1.829510969	1.47E-11	Extracellular matrix protein	BrainSpLMD|3913	OMIM|150325;HPO|3913|Areflexia, Autosomal recessive inheritance, Blindness, Diffuse mesangial sclerosis, Edema, Generalized hypotonia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Hypoproteinemia, Myopia, Neonatal onset, Nephrotic syndrome, Nystagmus, Posterior lenticonus, Proteinuria, Stage 5 chronic kidney disease, Strabismus
Mural	SH2B3	3.357910434	1.70E-11	Adapter molecule	BrainSpLMD|10019;Eurexp|euxassay_003586|molar	OMIM|605093;COSMIC||MPN, sAML, erythrocytosis, B-ALL, Coeliac disease type 13, diabetes mellitus, insulin-dependent,;HPO|10019|Abnormal platelet morphology, Abnormality of the skeletal system, Acrocyanosis, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Cerebral hemorrhage, Chest pain, Exertional dyspnea, Fatigue, Headache, Hypertension, Impaired platelet aggregation, Increased hematocrit, Increased hemoglobin, Increased megakaryocyte count, Increased red blood cell mass, Myelofibrosis, Myeloproliferative disorder, Myocardial infarction, Paresthesia, Peripheral thrombosis, Plethora, Prolonged bleeding time, Somatic mutation, Splenomegaly, Thrombocytosis, Transient ischemic attack, Venous thrombosis, Vertigo
Mural	COL5A2	1.835536118	1.82E-11	Extracellular matrix protein	BrainSpLMD|1290;BrainSpMouseDev|12615	OMIM|120190;HPO|1290|Aortic dilatation, Aortic root dilatation, Atrophic scars, Autosomal dominant inheritance, Blue sclerae, Bowel diverticulosis, Bruising susceptibility, Cigarette-paper scars, Congenital diaphragmatic hernia, Ectopia lentis, Epicanthus, Femoral hernia, Fragile skin, Gastroesophageal reflux, Genu recurvatum, Hallux valgus, Hyperextensibility at elbow, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Hyperextensible skin, Infantile muscular hypotonia, Inguinal hernia, Irregularly spaced teeth, Joint dislocation, Joint hyperflexibility, Lop ear, Mitral valve prolapse, Molluscoid pseudotumors, Myopia, Narrow maxilla, Osteoarthritis, Pectus carinatum, Pectus excavatum, Pes planus, Poor wound healing, Premature birth following premature rupture of fetal membranes, Scoliosis, Short stature, Soft skin, Subcutaneous spheroids, Thin skin, Umbilical hernia, Varicose veins
Mural	RHOC	2.150960735	1.85E-11	GTPase	BrainSpLMD|389	OMIM|165380
Mural	PAG1	2.02364192	2.10E-11	Adapter molecule	BrainSpLMD|55824	OMIM|605767
Mural	CPED1	2.864645065	2.15E-11	Unclassified	BrainSpLMD|79974;Eurexp|euxassay_009303|capsule, dermis, ear, footplate, handplate, head mesenchyme, left lung, meninges, mesenchyme, midgut, right lung, stomach, vibrissa	
Mural	ARHGAP15	3.496119857	2.25E-11	GTPase	BrainSpLMD|55843	SFARI||Autism, 6 - Evidence does not support role;OMIM|610578
Mural	EHD2	3.532154366	2.26E-11	Unclassified	BrainSpLMD|30846	OMIM|605890
Mural	TWIST1	1.565982828	3.11E-11	Transcription factor	BrainSpLMD|7291;Eurexp|euxassay_005335|valve;BrainSpMouseDev|21917	OMIM|601622;HPO|7291|Abnormal heart morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the nasolacrimal system, Absent first metatarsal, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharospasm, Brachycephaly, Brachydactyly, Breast carcinoma, Broad forehead, Broad hallux, Buphthalmos, Cleft of chin, Cleft palate, Clinodactyly of the 5th finger, Convex nasal ridge, Coronal craniosynostosis, Craniosynostosis, Delayed cranial suture closure, Depressed nasal bridge, Dolichocephaly, Duplication of phalanx of hallux, External ear malformation, Facial asymmetry, Finger syndactyly, Flat face, Flat forehead, Frontal bossing, Hallux valgus, Hearing impairment, High forehead, Hyperlordosis, Hypertelorism, Hypoplasia of the maxilla, Increased intracranial pressure, Intellectual disability, moderate, Lambdoidal craniosynostosis, Long nose, Low anterior hairline, Low-set ears, Malar flattening, Microtia, Narrow internal auditory canal, Narrow nose, Narrow palate, Open bite, Oxycephaly, Parietal foramina, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of the distal phalanx of the 3rd finger, Plagiocephaly, Prominent crus of helix, Prominent nasal bridge, Proptosis, Ptosis, Radioulnar synostosis, Scaphocephaly, Shallow orbits, Short stature, Skull asymmetry, Strabismus, Toe syndactyly, Turricephaly, Underdeveloped supraorbital ridges, Variable expressivity, Visual field defect
Mural	RHOJ	3.17048991	3.29E-11	GTPase	BrainSpLMD|57381;Eurexp|euxassay_002084|alimentary system, cavities and their linings, gland, integumental system, limb, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, tail, vertebral axis muscle system	OMIM|607653
Mural	GNG12	2.116670777	3.43E-11	G protein	BrainSpLMD|55970;Eurexp|euxassay_002072|ventricular layer	OMIM|615405
Mural	PRKG1	3.634733062	5.02E-11	Serine/threonine kinase	BrainSpLMD|5592;Eurexp|euxassay_009525|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, hindgut, mantle layer, midgut, stomach, trigeminal V, turbinate bones, ventral grey horn, vestibulocochlear VIII	OMIM|176894;HPO|5592|Abnormality of the iris, Aortic regurgitation, Ascending aortic dissection, Autosomal dominant inheritance, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Dilatation of the thoracic aorta, Exertional dyspnea, Hypertension, Left ventricular failure, Paroxysmal dyspnea
Mural	ADA	2.875948022	5.35E-11	Enzyme: Deaminase	BrainSpLMD|100;Eurexp|euxassay_018615|olfactory, thymus primordium	SFARI||Autism, 3 - Suggestive evidence;OMIM|608958;HPO|100|Abnormality of lymphocytes, Abnormality of pelvic girdle bone morphology, Absent specific antibody response, Alopecia, Anterior rib cupping, Aplasia of the thymus, Aplasia/Hypoplasia of the eyebrow, Asthma, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Autosomal recessive inheritance, B lymphocytopenia, B-cell lymphoma, Chronic diarrhea, Desquamation of skin soon after birth, Diarrhea, Diffuse mesangial sclerosis, Dry skin, Edema, Eosinophilia, Erythroderma, Failure to thrive, Fever, Hepatomegaly, IgA deficiency, IgM deficiency, Immunoglobulin IgG2 deficiency, Increased IgE level, Lymphadenopathy, Platyspondyly, Pneumonia, Pruritus, Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Reduced red cell adenosine deaminase activity, Severe B lymphocytopenia, Severe combined immunodeficiency, Sinusitis, Somatic mosaicism, Splenomegaly, Thickened skin
Mural	PMEPA1	1.871945489	6.65E-11	Integral membrane protein	BrainSpLMD|56937	OMIM|606564
Mural	SMOC2	2.046132183	7.89E-11	Calcium binding protein	BrainSpLMD|64094;BrainSpMouseDev|40707	OMIM|607223;HPO|64094|Autosomal dominant inheritance, Autosomal recessive inheritance, Dentinogenesis imperfecta limited to primary teeth, Obliteration of the pulp chamber, Periapical bone loss
Mural	EMCN	3.396538424	8.03E-11	Unclassified	BrainSpLMD|51705;Eurexp|euxassay_012119|embryo	OMIM|608350
Mural	F3	1.838785556	8.95E-11	Coagulation factor	BrainSpLMD|2152;Eurexp|euxassay_009157|axial muscle, calyces, epithelium, larynx, left lung, midgut, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, pyloric region, rectum, right lung, ventricular layer, vibrissa	OMIM|134390
Mural	SLC9A1	3.255503383	9.35E-11	Membrane transport protein	BrainSpLMD|6548;Eurexp|euxassay_019740|foregut-midgut junction, hindgut, midgut, stomach	OMIM|107310;HPO|6548|Action tremor, Autosomal recessive inheritance, Dysarthria, Dysdiadochokinesis, Dysmetria, Gait ataxia, Limb ataxia, Motor delay, Progressive
Mural	ECE1	2.993863692	9.41E-11	Metallo protease	BrainSpLMD|1889;Eurexp|euxassay_017226|cornea, larynx, naris, oesophagus, olfactory, oral epithelium, pharyngo-tympanic tube, pituitary, submandibular gland primordium, thyroid, trachea, vibrissa	OMIM|600423;HPO|1889|Abdominal pain, Aganglionic megacolon, Agitation, Atrial septal defect, Autosomal dominant inheritance, Bulbous nose, Constipation, Contractures of the interphalangeal joint of the thumb, Cupped ear, Dysautonomia, Hyperconvex nail, Hypertension, Intestinal obstruction, Micropenis, Nausea and vomiting, Patent ductus arteriosus, Posteriorly rotated ears, Prominent nasal bridge, Short nose, Status epilepticus, Tachycardia, Tapered finger, Ventricular septal defect, Weight loss
Mural	APOLD1	2.59189408	9.47E-11	Unclassified	BrainSpLMD|81575;Eurexp|euxassay_014175|ventricle	OMIM|612456
Mural	FOSB	2.01220678	9.84E-11	Transcription factor	BrainSpLMD|2354	OMIM|164772
Mural	MTUS1	2.479479315	1.09E-10	Growth inhibitory factor	BrainSpLMD|57509	OMIM|609589
Mural	C11orf96	2.21876236	1.10E-10	Unclassified		
Mural	ACVRL1	3.370223307	1.30E-10	Receptor serine/threonine kinase	BrainSpLMD|94;Eurexp|euxassay_004915|embryo;BrainSpMouseDev|11270	OMIM|601284;HPO|94|Anemia, Autosomal dominant inheritance, Brain abscess, Cavernous hemangioma, Cerebral arteriovenous malformation, Cerebral hemorrhage, Cholecystitis, Choriocapillaris atrophy, Cirrhosis, Clubbing, Conjunctival telangiectasia, Cyanosis, Dyspnea, Epistaxis, Fingerpad telangiectases, Gastrointestinal angiodysplasia, Gastrointestinal arteriovenous malformation, Gastrointestinal telangiectasia, Hematemesis, Hematochezia, Hepatic arteriovenous malformation, Heterogeneous, Hypertension, Ischemic stroke, Lip telangiectasia, Melena, Microcytic anemia, Migraine, Nail bed telangiectasia, Nasal mucosa telangiectasia, Palate telangiectasia, Polycythemia, Portal hypertension, Pulmonary arterial hypertension, Pulmonary arteriovenous malformation, Right-to-left shunt, Seizures, Spinal arteriovenous malformation, Spontaneous hematomas, Spontaneous, recurrent epistaxis, Subarachnoid hemorrhage, Telangiectasia of the skin, Tongue telangiectasia, Transient ischemic attack, Visceral angiomatosis
Mural	CU639417.1	2.281478649	1.34E-10			
Mural	MYL9	2.406131379	1.43E-10	Unclassified	BrainSpLMD|10398;Eurexp|euxassay_010121|atrium, bladder, cardiovascular system, left lung, liver, midgut, nasal cavity, oesophagus, right lung, stomach, ventricle	OMIM|609905
Mural	FKBP9	1.674029988	1.65E-10	Chaperone	BrainSpLMD|11328;Eurexp|euxassay_007465|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, metatarsus, nasal septum, nucleus pulposus, orbito-sphenoid, otic capsule, phalanx, radius, rib, sternum, temporal bone, thyroid, tibia, turbinate, ulna, vault of skull	OMIM|616257;COSMIC||glioma
Mural	CCDC80	2.480548685	2.20E-10	Unclassified	BrainSpLMD|151887	OMIM|608298
Mural	GPR133	3.94955632	2.47E-10			
Mural	MRVI1	4.606496745	2.54E-10	Unclassified	BrainSpLMD|10335;Eurexp|euxassay_014224|hindgut, lobe, midgut, oesophagus, stomach, wall	OMIM|604673
Mural	ADCY4	4.608802001	2.57E-10	Adenylate cyclase	BrainSpLMD|196883	OMIM|600292
Mural	PHACTR2	2.237277151	2.94E-10	Enzyme regulator	BrainSpLMD|9749;Eurexp|euxassay_007706|alimentary system, cardiovascular system, cavities and their linings, choroid invagination, choroid plexus, gland, integumental system, limb, mesenchyme, renal/urinary system, reproductive system, respiratory system, roof plate, sensory organ, tail, ventricular layer, vertebral axis muscle system	OMIM|608724
Mural	AC007319.1	2.668556885	3.26E-10			
Mural	P2RY14	2.949933966	3.29E-10	G protein coupled receptor	BrainSpLMD|9934	OMIM|610116
Mural	PMP22	2.805310277	3.40E-10	Integral membrane protein	BrainSpLMD|5376	OMIM|601097;HPO|5376|Abnormality of the immune system, Acute demyelinating polyneuropathy, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Childhood onset, Cold-induced muscle cramps, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Gait ataxia, Gait disturbance, Generalized hypotonia, Hammertoe, Hearing impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Increased CSF protein, Infantile onset, Insidious onset, Juvenile onset, Kyphoscoliosis, Motor delay, Muscle weakness, Myelin outfoldings, Onion bulb formation, Paresthesia, Pes cavus, Scoliosis, Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Sensory ataxia, Slow progression, Split hand, Steppage gait, Talipes calcaneovalgus, Ulnar claw, Upper limb postural tremor, Variable expressivity, Vocal cord paralysis
Mural	TPM4	1.681644307	3.79E-10	Cytoskeletal protein		OMIM|600317;COSMIC||ALCL
Mural	RBPMS	2.47978559	3.82E-10	RNA binding protein	BrainSpLMD|11030;Eurexp|euxassay_000586|foregut-midgut junction, hindgut, midgut, neural retina, oesophagus, stomach	OMIM|601558
Mural	PTPRK	2.495770231	4.54E-10	Receptor tyrosine phosphatase	BrainSpLMD|5796;Eurexp|euxassay_009627|mantle layer, marginal layer, midgut, stomach, ventral grey horn, vibrissa;BrainSpMouseDev|19035	OMIM|602545;COSMIC||colorectal
Mural	SERPING1	2.541328449	6.38E-10	Protease inhibitor	BrainSpLMD|710	OMIM|606860;HPO|710|Abdominal pain, Abnormality of salivation, Abnormality of the larynx, Angioedema, Autoimmunity, Autosomal dominant inheritance, Dermatographic urticaria, Diarrhea, Dysphagia, Edema of the dorsum of hands, Erythema, Facial edema, Intestinal edema, Laryngeal edema, Limbal edema, Nausea, Paresthesia, Peripheral axonal neuropathy, Pharyngeal edema, Systemic lupus erythematosus, Tongue edema, Vomiting
Mural	PLCE1	1.908564398	6.38E-10	Guanine nucleotide exchange factor	BrainSpLMD|51196;Eurexp|euxassay_014545|floor plate, floorplate	OMIM|608414;HPO|51196|Autosomal recessive inheritance, Childhood onset, Diffuse mesangial sclerosis, Edema, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Progressive, Proteinuria, Stage 5 chronic kidney disease
Mural	NOSTRIN	3.149165583	6.70E-10	Unclassified	BrainSpLMD|115677	OMIM|607496
Mural	HLA.B	1.958008733	8.17E-10			
Mural	CTD.2031P19.4	1.64890488	9.21E-10			
Mural	TAGLN	3.098650602	1.05E-09	Cytoskeletal associated protein	BrainSpLMD|6876;Eurexp|euxassay_002411|aorta, bladder, body-wall mesenchyme, cranium, diaphragm, hindgut, lung, mesenchyme, midgut, oesophagus, rectum, stomach, tongue, wall	OMIM|600818
Mural	ITPRIPL2	3.273757106	1.17E-09	Unclassified		
Mural	PLCL1	2.264450461	1.30E-09	Unclassified	BrainSpLMD|5334;Eurexp|euxassay_013151|floorplate, mantle layer, ventral grey horn, vibrissa	OMIM|600597
Mural	CETP	2.875819222	1.51E-09	Transport/cargo protein	BrainSpLMD|1071	OMIM|118470;HPO|1071|Autosomal dominant inheritance, Hypercholesterolemia, Hyperlipidemia, Hypotriglyceridemia, Increased circulating high-density lipoprotein levels
Mural	7-Sep	1.140062485	1.56E-09			
Mural	TMEM74B	3.436713714	1.56E-09	Unclassified	BrainSpLMD|55321	
Mural	HTRA3	2.83053092	1.68E-09	Serine protease	BrainSpLMD|94031	OMIM|608785
Mural	HES1	1.84669435	1.70E-09	Transcription factor	BrainSpLMD|3280;Eurexp|euxassay_019489|epithelium, floor plate, floorplate, hindgut, incisor, larynx, lung, metanephros, metatarsus, midgut, molar, neural retina, oesophagus, olfactory, oral epithelium, pancreas, phalanx, pharyngo-tympanic tube, skeleton, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|14981	OMIM|139605
Mural	ID3	2.561534816	1.70E-09	Transcription regulatory protein	BrainSpLMD|3399;BrainSpMouseDev|15676	OMIM|600277;COSMIC||Burkitt lymphoma
Mural	GMFG	2.660893965	1.79E-09	Growth factor	BrainSpLMD|9535;Eurexp|euxassay_004389|thymus primordium	OMIM|604104
Mural	PPFIBP1	1.812417909	2.03E-09	Anchor protein	BrainSpLMD|8496;BrainSpMouseDev|43376	OMIM|603141;COSMIC||Spitzoid tumour, inflammatory myofibroblastic tumour
Mural	NT5DC2	2.210652545	2.14E-09	Unclassified	BrainSpLMD|64943;Eurexp|euxassay_009884|axial muscle, bladder, choroid plexus, cortex, lung, mandible, mantle layer, maxilla, neural retina, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, thyroid, turbinate bones, vault of skull, ventricular layer	
Mural	COL9A1	2.66251823	2.44E-09	Extracellular matrix protein	BrainSpLMD|1297;Eurexp|euxassay_011520|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, hyoid bone, mandible, maxilla, metacarpus, metatarsus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, radius, rib, scapula, sternum, submandibular gland primordium, temporal bone, thyroid, tibia, trachea, turbinate, ulna, vault of skull;BrainSpMouseDev|12622	OMIM|120210;HPO|1297|Abnormality of epiphysis morphology, Abnormality of the knee, Amblyopia, Arthralgia, Arthralgia of the hip, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Childhood onset, Cleft palate, Degenerative vitreoretinopathy, Epiphyseal dysplasia, Flat capital femoral epiphysis, Flat distal femoral epiphysis, Flat face, Gait disturbance, Genu valgum, Hip dysplasia, Irregular distal femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Limitation of joint mobility, Malar flattening, Micrognathia, Micromelia, Multiple epiphyseal dysplasia, Myopia, Osteoarthritis, Platyspondyly, Retinal detachment, Schmorl's node, Sensorineural hearing impairment, Severe Myopia, Short stature, Small epiphyses, Vitreoretinal degeneration
Mural	APOL2	2.495656558	2.74E-09	Integral membrane protein;Transport/cargo protein	BrainSpLMD|23780;Eurexp|euxassay_010310|liver	OMIM|607252
Mural	BCHE	2.543321333	2.90E-09	Enzyme: Esterase	BrainSpLMD|590;BrainSpMouseDev|11824	OMIM|177400
Mural	RHOB	1.653312903	2.91E-09	GTPase	BrainSpLMD|388;Eurexp|euxassay_016450|floor plate, floorplate, mantle layer, marginal layer	OMIM|165370
Mural	PLAC9	2.312464404	2.99E-09	Unclassified	Eurexp|euxassay_006803|axial skeleton, bladder, choroid plexus, ductus deferens, mesenchyme, oesophagus, sternum, stomach, submandibular gland primordium, trachea, ventricular layer	OMIM|612857
Mural	WWTR1	1.992012846	3.25E-09	Transcription regulatory protein	BrainSpLMD|25937;Eurexp|euxassay_000592|limb, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|61234	OMIM|607392;COSMIC||epithelioid haemangioendothelioma
Mural	VMP1	2.492146805	3.36E-09	Integral membrane protein	BrainSpLMD|81671	OMIM|611753
Mural	NEAT1	1.196358976	3.39E-09			OMIM|612769
Mural	SYNM	3.75692943	3.50E-09	Cytoskeletal protein	BrainSpLMD|23336	OMIM|606087
Mural	EPS8	1.914130273	3.57E-09	Adapter molecule	BrainSpLMD|2059;Eurexp|euxassay_004434|adrenal gland, lung, mantle layer, marginal layer, mesenchyme, metanephros, midgut, nasal septum, pancreas, rectum, testis, thymus primordium, turbinate bones	SFARI||Autism, No category;OMIM|600206;HPO|2059|Autosomal recessive inheritance, Congenital onset, Profound hearing impairment
Mural	COL6A1	1.406857668	3.67E-09	Extracellular matrix protein	BrainSpLMD|1291;BrainSpMouseDev|12616	OMIM|120220;HPO|1291|Abnormality of the cardiovascular system, Abnormality of the palate, Adducted thumb, Ankle contracture, Autosomal dominant inheritance, Autosomal recessive inheritance, Cachexia, Camptodactyly of finger, Congenital muscular dystrophy, Congenital muscular torticollis, Decreased fetal movement, Diaphragmatic weakness, Distal muscle weakness, EMG abnormality, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated serum creatine phosphokinase, Esotropia, Facial palsy, Failure to thrive, Feeding difficulties in infancy, Flexion contracture, Follicular hyperkeratosis, Frequent falls, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, High palate, Hip dislocation, Hyperextensibility at wrists, Hyperhidrosis, Increased endomysial connective tissue, Increased laxity of ankles, Increased laxity of fingers, Increased variability in muscle fiber diameter, Infantile onset, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphosis, Limb-girdle muscle weakness, Long toe, Micrognathia, Mildly elevated creatine phosphokinase, Motor delay, Muscle fiber necrosis, Myopathy, Neonatal hypotonia, Nocturnal hypoventilation, Pes valgus, Progressive, Protruding ear, Proximal muscle weakness, Recurrent lower respiratory tract infections, Respiratory failure, Respiratory insufficiency due to muscle weakness, Round face, Scoliosis, Short neck, Skeletal muscle atrophy, Slender build, Slender finger, Slow progression, Spinal rigidity, Talipes equinovarus, Torticollis, Type 1 muscle fiber predominance, Variable expressivity
Mural	DDR2	2.364970309	4.17E-09	Receptor tyrosine kinase	BrainSpLMD|4921;Eurexp|euxassay_010957|mandible, maxilla, midgut, oesophagus, stomach;BrainSpMouseDev|17981	OMIM|191311;COSMIC||squamous cell carcinoma, NSCLC, Spondylometaepiphyseal dysplasia, short limb-hand type;HPO|4921|Abnormal calcification of the carpal bones, Abnormality of the neck, Anterior rib cupping, Atlantoaxial instability, Autosomal recessive inheritance, Bell-shaped thorax, Bowing of the legs, Broad metacarpals, Broad phalanx, C1-C2 subluxation, Calcification of falx cerebri, Depressed nasal bridge, Disproportionate short-limb short stature, Elbow flexion contracture, Epiphyseal stippling, Flared iliac wings, Flared metaphysis, Frontal bossing, Generalized hypotonia, Global developmental delay, High palate, Hip subluxation, Hypertelorism, Hypoplasia of the odontoid process, Knee flexion contracture, Long fibula, Malar flattening, Metatarsus adductus, Micrognathia, Micromelia, Midface retrusion, Muscular hypotonia, Pectus excavatum, Platyspondyly, Posterior rib cupping, Progressive calcification of costochondral cartilage, Proptosis, Recurrent pneumonia, Restrictive ventilatory defect, Scoliosis, Short long bone, Short metacarpal, Short nose, Short phalanx of finger, Short ribs, Spinal cord compression, Spondyloepimetaphyseal dysplasia, Syringomyelia, Thoracic hypoplasia, Tracheal calcification, Triangular shaped distal phalanges of the hand
Mural	CD63	1.495763316	4.22E-09	Integral membrane protein	BrainSpLMD|967	OMIM|155740
Mural	PRKCB	2.06096478	4.22E-09	Serine/threonine kinase	BrainSpLMD|5579;BrainSpMouseDev|18515	SFARI||Autism, 3 - Suggestive evidence;OMIM|176970;COSMIC||adult T-cell lymphoma-leukaemia
Mural	DYNLT3	2.187508885	4.45E-09	Unclassified	BrainSpLMD|6990;Eurexp|euxassay_011403|choroid plexus, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, mantle layer, naris, olfactory, pituitary, rectum, submandibular gland primordium, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, vibrissa	OMIM|300302
Mural	CD99	1.714294377	5.28E-09	Unclassified		OMIM|450000
Mural	SLC6A1	1.682602294	5.47E-09	Membrane transport protein	BrainSpLMD|6529;Eurexp|euxassay_018302|brain, glossopharyngeal IX, marginal layer, neural retina, spinal cord, vestibulocochlear VIII;BrainSpMouseDev|87401	SFARI||Autism, 2 - Strong candidate;OMIM|137165;HPO|6529|Abnormal brain FDG positron emission tomography, Absence seizures, Ataxia, Atonic seizures, Autosomal dominant inheritance, Developmental regression, Dysarthria, EEG with abnormally slow frequencies, EEG with spike-wave complexes (>3.5 Hz), Epileptic encephalopathy, Eyelid myoclonus, Intellectual disability, Mental deterioration, Myoclonic atonic seizures, Status epilepticus
Mural	CPPED1	2.795302765	6.32E-09	Unclassified	BrainSpLMD|55313	OMIM|615603
Mural	GRM3	2.643584474	7.07E-09	G protein coupled receptor	BrainSpLMD|2913;BrainSpMouseDev|72231	OMIM|601115;COSMIC||melanoma, oral SCC
Mural	GSN	1.255026528	7.23E-09	Cytoskeletal protein	BrainSpLMD|2934	SFARI||Autism, No category;OMIM|137350;HPO|2934|Abnormality of abdomen morphology, Adult onset, Autosomal dominant inheritance, Bulbar palsy, Cardiac amyloidosis, Cardiomyopathy, Cutis laxa, Generalized amyloid deposition, Lattice corneal dystrophy, Nephrotic syndrome, Polyneuropathy, Renal insufficiency
Mural	SNORD114.26	2.709094749	7.96E-09			
Mural	FAM46A	2.378223455	9.39E-09	Unclassified	BrainSpLMD|55603;Eurexp|euxassay_008026|clavicle, fibula, mandible, maxilla, orbito-sphenoid, rib, tibia	OMIM|611357
Mural	MGP	2.775480165	1.04E-08	Extracellular matrix protein	BrainSpLMD|4256	OMIM|154870;HPO|4256|Autosomal recessive inheritance, Calcification of cartilage, Calcification of the auricular cartilage, Cartilaginous ossification of larynx, Cartilaginous ossification of nose, Cerebral calcification, Chronic sinusitis, Costal cartilage calcification, Deep philtrum, Depressed nasal bridge, Epiphyseal stippling, Global developmental delay, Growth abnormality, Hearing impairment, Intellectual disability, mild, Long face, Macrotia, Malar flattening, Midface retrusion, Nasal speech, Peripheral pulmonary artery stenosis, Premature fusion of phalangeal epiphyses, Pulmonary arterial hypertension, Pulmonary artery hypoplasia, Pulmonary artery stenosis, Pulmonic stenosis, Recurrent bronchitis, Recurrent otitis media, Recurrent sinusitis, Seizures, Short distal phalanx of finger, Short hallux, Short thumb, Sloping forehead, Spontaneous abortion, Tracheal atresia, Underdeveloped nasal alae, Ventricular septal defect, Wide nose
Mural	PON2	1.466546154	1.10E-08	Enzyme: Esterase	BrainSpLMD|5445	OMIM|602447;HPO|5445|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
Mural	TGFBR2	3.038430503	1.15E-08	Receptor serine/threonine kinase	BrainSpLMD|7048;BrainSpMouseDev|21572	OMIM|190182;COSMIC||head and neck, colorectal, colorectal, Loeys-Dietz syndrome 2;HPO|7048|Abdominal pain, Abnormality of the iris, Abnormality of the sternum, Abnormality of the voice, Anxiety, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Arachnodactyly, Arterial dissection, Arterial tortuosity, Ascending aortic dissection, Attention deficit hyperactivity disorder, Atypical scarring of skin, Autosomal dominant inheritance, Bifid uvula, Blue sclerae, Brachydactyly, Camptodactyly, Camptodactyly of finger, Cardiomegaly, Chest pain, Clinodactyly of the 5th toe, Colon cancer, Constipation, Coronary artery disease, Cough, Craniosynostosis, Cutis marmorata, Cystic medial necrosis of the aorta, Death in early adulthood, Death in infancy, Depressivity, Dermal translucency, Descending aortic dissection, Dilatation of ascending aorta, Esophageal carcinoma, Exertional dyspnea, Exotropia, Fatigue, Feeding difficulties in infancy, Gastrointestinal hemorrhage, Generalized arterial tortuosity, Glioblastoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, High palate, Hypertelorism, Hypertension, Hypertonia, Increased intracranial pressure, Irritability, Joint contracture of the hand, Joint laxity, Left ventricular failure, Malabsorption, Malar flattening, Micrognathia, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Oral cleft, Paroxysmal dyspnea, Patent ductus arteriosus, Pes planus, Proptosis, Pulmonary artery aneurysm, Retrognathia, Scoliosis, Seizures, Squamous cell carcinoma, Striae distensae, Talipes equinovarus, Tall stature, Uterine rupture, Weight loss
Mural	11-Sep	0.963020179	1.29E-08			
Mural	DOCK6	1.910711409	1.35E-08	Guanine nucleotide exchange factor	BrainSpLMD|57572	OMIM|614194;HPO|57572|Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aplasia cutis congenita, Autosomal recessive inheritance, Brachydactyly, Bulbous nose, Calvarial skull defect, Cataract, Cutis marmorata, Depressed nasal bridge, Failure to thrive, Finger syndactyly, Generalized hypotonia, Global developmental delay, Hydrocephalus, Hypertelorism, Low anterior hairline, Low-set ears, Microcephaly, Micrognathia, Microphthalmia, Narrow palpebral fissure, Oligohydramnios, Pulmonary artery atresia, Seizures, Short distal phalanx of finger, Single transverse palmar crease, Small nail, Sparse hair, Split hand, Strabismus, Talipes, Tetralogy of Fallot
Mural	FAM114A1	1.938512024	1.41E-08	Unclassified	BrainSpLMD|92689;Eurexp|euxassay_002429|Meckel's cartilage, cranium	
Mural	ITM2C	2.023320247	1.73E-08	Integral membrane protein	BrainSpLMD|81618	OMIM|609554
Mural	RFTN1	3.316077096	1.76E-08	Integral membrane protein	BrainSpLMD|23180;Eurexp|euxassay_004681|dorsal grey horn, mantle layer, marginal layer	
Mural	TLN1	1.793615366	1.84E-08	Cytoskeletal associated protein	BrainSpLMD|7094;Eurexp|euxassay_011794|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	OMIM|186745
Mural	LIMS1	1.739297784	1.86E-08	Adapter molecule	BrainSpLMD|3987;Eurexp|euxassay_003410|4th ventricle, bladder, gut, heart, incisor, liver, liver and biliary system, lung, metanephros, molar, stomach, submandibular gland primordium, tongue, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|74984	OMIM|602567
Mural	ITM2B	1.341523802	2.08E-08	Integral membrane protein	BrainSpLMD|9445	OMIM|603904;HPO|9445|Ataxia, Autosomal dominant inheritance, Cerebral amyloid angiopathy, Dementia, Hearing impairment, Hypertonia, Intention tremor, Neurofibrillary tangles, Optic disc pallor, Photophobia, Posterior polar cataract, Progressive neurologic deterioration, Psychosis, Retinal dystrophy, Rigidity, Spasticity, Tremor
Mural	PLA2R1	2.264245789	2.62E-08	Integral membrane protein	BrainSpLMD|22925;Eurexp|euxassay_002883|olfactory	OMIM|604939
Mural	CAV1	0.461095913	2.75E-08	Structural protein	BrainSpLMD|857	OMIM|601047;HPO|857|Abnormality of skin pigmentation, Abnormality of the face, Absence of subcutaneous fat, Acanthosis nigricans, Accelerated skeletal maturation, Arthralgia, Arthritis, Autoimmunity, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Bone cyst, Broad foot, Carious teeth, Clonus, Congenital cataract, Decreased adipose tissue around neck, Diabetes mellitus, Distal sensory impairment, Dysmetria, Dyspareunia, Dysphagia, Dyspnea, Flexion contracture, Gait ataxia, Gastroesophageal reflux, Generalized hirsutism, Glucose intolerance, Growth hormone excess, Hepatic failure, Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Hirsutism, Hypercholesterolemia, Hyperhidrosis, Hyperinsulinemia, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Hypocalcemia, Hypopigmented skin patches, Incomplete penetrance, Increased pulmonary vascular resistance, Insulin resistance, Intellectual disability, Lack of facial subcutaneous fat, Large hands, Lipoatrophy, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Lower limb muscle weakness, Malabsorption, Mandibular prognathia, Mucosal telangiectasiae, Muscle weakness, Narrow foramen obturatorium, Nausea and vomiting, Nystagmus, Oliguria, Orthostatic hypotension, Osteolysis, Pancreatitis, Pigmentary retinopathy, Precocious puberty, Prominent supraorbital ridges, Pulmonary arterial hypertension, Pulmonary fibrosis, Pulmonary infiltrates, Reduced subcutaneous adipose tissue, Short stature, Skeletal muscle hypertrophy, Skin ulcer, Telangiectasia of the skin, Variable expressivity, Xerostomia
Mural	SLC20A2	2.432455455	2.76E-08	Membrane transport protein	BrainSpLMD|6575	OMIM|158378;HPO|6575|Abnormality of neuronal migration, Adult onset, Athetosis, Autosomal dominant inheritance, Basal ganglia calcification, Bradykinesia, Calcification of the small brain vessels, Cerebral calcification, Chorea, Corneal opacity, Dense calcifications in the cerebellar dentate nucleus, Depressivity, Dysarthria, Dysdiadochokinesis, Dystonia, Gait disturbance, Hepatomegaly, Hyperreflexia, Intrauterine growth retardation, Limb dysmetria, Mask-like facies, Memory impairment, Mental deterioration, Microcephaly, Parkinsonism, Postural instability, Progressive, Psychosis, Rigidity, Seizures, Subcutaneous hemorrhage, Thrombocytopenia, Tremor, Urinary incontinence, Ventriculomegaly
Mural	HLA.E	1.863889014	2.81E-08			
Mural	GOLIM4	1.218431072	2.84E-08	Integral membrane protein	BrainSpLMD|27333	OMIM|606805
Mural	ARHGEF12	1.792913936	3.17E-08	Guanine nucleotide exchange factor	BrainSpLMD|23365	OMIM|604763;COSMIC||AML
Mural	SLC40A1	2.589930934	3.20E-08	Transport/cargo protein	BrainSpLMD|30061;Eurexp|euxassay_003910|bladder, brain, cervical region, footplate, handplate, liver, lumbar region, lung, mesenchyme, metanephros, midgut, rectum, renal/urinary system, rib, sacral region, spinal cord, thoracic region, vibrissa;BrainSpMouseDev|33240	OMIM|604653;HPO|30061|Abdominal pain, Arrhythmia, Arthralgia, Autosomal dominant inheritance, Cardiomyopathy, Cataract, Fatigue, Generalized hyperpigmentation, Glucose intolerance, Hepatic steatosis, Impotence, Increased serum ferritin, Joint dislocation, Joint swelling, Limitation of joint mobility, Osteoarthritis
Mural	FKBP1A	1.254538533	3.24E-08	Enzyme: Isomerase	BrainSpLMD|2280;Eurexp|euxassay_003477|Meckel's cartilage, incisor, lip, mantle layer, molar, orbito-sphenoid, ventral grey horn, ventricular layer	OMIM|186945
Mural	CA2	2.068369948	3.37E-08	Enzyme: Carbonic anhydrase	BrainSpLMD|760;Eurexp|euxassay_018564|Meckel's cartilage, bladder, choroid plexus, cochlear duct, fundus region, incisor, lateral recess, lobe, lumen, lung, molar, rectum;BrainSpMouseDev|12134	OMIM|611492;HPO|760|Abnormality of dental morphology, Abnormality of epiphysis morphology, Abnormality of the renal tubule, Anemia, Aseptic necrosis, Autosomal recessive inheritance, Basal ganglia calcification, Bone pain, Carious teeth, Cerebral calcification, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, Distal renal tubular acidosis, Elevated serum acid phosphatase, Extramedullary hematopoiesis, Failure to thrive, Genu valgum, Global developmental delay, Hepatomegaly, Hepatosplenomegaly, Intellectual disability, Mandibular prognathia, Optic nerve compression, Osteopetrosis, Periodic hypokalemic paresis, Peripheral neuropathy, Recurrent fractures, Reduced bone mineral density, Short stature, Splenomegaly, Thrombocytopenia, Visual loss
Mural	C10orf11	1.893601848	3.58E-08			
Mural	PKIG	1.986508628	3.62E-08	Enzyme regulator;Regulatory/other subunit	BrainSpLMD|11142;Eurexp|euxassay_010432|tongue, vertebral axis muscle system	OMIM|604932
Mural	CXXC5	1.934292583	3.68E-08	DNA binding protein	BrainSpLMD|51523	OMIM|612752
Mural	REEP3	1.108314111	4.44E-08	Unclassified	BrainSpLMD|221035;Eurexp|euxassay_004457|digit 1, digit 2, digit 3, digit 4, digit 5, footplate, handplate, lower leg, trigeminal V, valve, ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|609348
Mural	CCM2L	1.825230318	4.90E-08	Unclassified	BrainSpLMD|140706	
Mural	THY1	1.587997946	5.27E-08	Unclassified	BrainSpLMD|7070;Eurexp|euxassay_018968|anterior, calyces, dermis, femur, fibula, humerus, incisor, mantle layer, metanephros, pelvic girdle, pelvis, renal/urinary system, scapula, sublingual gland primordium, thymus primordium, tibia, ureter, ventral grey horn, vibrissa	OMIM|188230
Mural	ARHGEF17	1.885281633	6.04E-08	Guanine nucleotide exchange factor	BrainSpLMD|9828	OMIM|617043
Mural	ENG	1.713268713	6.12E-08	Cell surface receptor	BrainSpLMD|2022;BrainSpMouseDev|13583	OMIM|131195;HPO|2022|Anemia, Arteriovenous fistulas of celiac and mesenteric vessels, Autosomal dominant inheritance, Brain abscess, Cavernous hemangioma, Cerebral arteriovenous malformation, Cerebral hemorrhage, Cholecystitis, Cirrhosis, Clubbing, Conjunctival telangiectasia, Cyanosis, Dilatation of celiac artery, Dilatation of mesenteric artery, Dyspnea, Epistaxis, Fingerpad telangiectases, Gastrointestinal angiodysplasia, Gastrointestinal arteriovenous malformation, Gastrointestinal telangiectasia, Hematemesis, Hematochezia, Hepatic arteriovenous malformation, Heterogeneous, High-output congestive heart failure, Ischemic stroke, Lip telangiectasia, Melena, Microcytic anemia, Migraine, Nail bed telangiectasia, Nasal mucosa telangiectasia, Palate telangiectasia, Polycythemia, Portal hypertension, Pulmonary arteriovenous malformation, Right-to-left shunt, Seizures, Spinal arteriovenous malformation, Spontaneous hematomas, Spontaneous, recurrent epistaxis, Subarachnoid hemorrhage, Telangiectasia of the skin, Tongue telangiectasia, Transient ischemic attack, Venous varicosities of celiac and mesenteric vessels, Visceral angiomatosis
Mural	RP11.598F7.6	2.60837923	6.69E-08			
Mural	MEF2C	0.347945335	6.78E-08	Transcription regulatory protein	BrainSpLMD|4208;Eurexp|euxassay_018172|axial skeleton, clavicle, diaphragm, dorsal grey horn, glossopharyngeal IX, incisor, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metatarsus, orbito-sphenoid, phalanx, rest of mesenchyme, rib, skeletal muscle, trigeminal V, vault of skull, vertebral axis muscle system, vibrissa;BrainSpMouseDev|17029	SFARI||Autism, 4 - Minimal evidence;OMIM|600662;HPO|4208|Anteverted nares, Autistic behavior, Autosomal dominant inheritance, Broad forehead, Delayed speech and language development, Depressed nasal bridge, Downturned corners of mouth, Generalized hypotonia, High forehead, Hypertelorism, Hypoplasia of the corpus callosum, Inability to walk, Intellectual disability, severe, Low-set ears, Motor delay, Muscular hypotonia, Poor eye contact, Seizures, Short chin, Short nose, Short philtrum, Sporadic, Stereotypy, Upslanted palpebral fissure, Ventriculomegaly
Mural	OLFML1	2.71804185	7.53E-08	Unclassified	BrainSpLMD|283298	
Mural	TPT1	1.103682656	7.58E-08	Calcium binding protein	BrainSpLMD|7178	OMIM|600763
Mural	FRK	3.5784631	8.51E-08	Tyrosine kinase	BrainSpLMD|2444;Eurexp|euxassay_003660|adenohypophysis, axial skeleton, bladder, calyces, cornea, hindlimb, limb, lung, mandible, midgut, naris, olfactory, palatal shelf, pelvis, pharyngo-tympanic tube, rectum, respiratory, stomach, tongue, trachea, urethra, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|606573
Mural	APOBEC3C	1.60763705	8.86E-08	Enzyme: Deaminase	BrainSpLMD|27350	OMIM|607750
Mural	WLS	1.825857447	9.82E-08	Integral membrane protein	BrainSpLMD|79971	OMIM|611514
Mural	ECM1	3.997696058	1.04E-07	Extracellular matrix protein	BrainSpLMD|1893	OMIM|602201;HPO|1893|Abnormal blistering of the skin, Abnormality of the gingiva, Abnormality of the skin, Acne, Aggressive behavior, Alopecia of scalp, Autosomal recessive inheritance, Bilateral intracranial calcifications, Dysphagia, Dystonia, Hallucinations, High palate, Hoarse voice, Hyperkeratosis, Memory impairment, Microglossia, Papule, Paranoia, Patchy alopecia, Pustule, Recurrent respiratory infections, Scarring, Seizures, Subcutaneous nodule, Thick lower lip vermilion, Tongue nodules, Verrucae
Mural	ENDOD1	3.611701352	1.06E-07	Unclassified	BrainSpLMD|23052	
Mural	ADAM33	3.329478557	1.08E-07	Metallo protease	BrainSpLMD|80332	OMIM|607114
Mural	TMOD3	1.488071008	1.15E-07	Cytoskeletal associated protein	BrainSpLMD|29766;Eurexp|euxassay_005515|clavicle, mandible, maxilla, orbito-sphenoid, rib	OMIM|605112
Mural	FBN1	2.641972059	1.17E-07	Extracellular matrix protein	BrainSpLMD|2200	SFARI||Autism, 3 - Suggestive evidence;OMIM|134797;HPO|2200|Abnormal cardiac ventricle morphology, Abnormal echocardiogram, Abnormality of dental morphology, Abnormality of the eyebrow, Abnormality of the iris, Abnormality of the sternum, Adducted thumb, Anteverted nares, Aortic dilatation, Aortic dissection, Aortic regurgitation, Aortic root dilatation, Aortic valve stenosis, Arachnodactyly, Ascending aortic dilation, Ascending aortic dissection, Autosomal dominant inheritance, Blindness, Blue sclerae, Brachycephaly, Brachydactyly, Broad metacarpals, Broad metatarsal, Broad palm, Broad phalanges of the hand, Broad ribs, Broad skull, Bruising susceptibility, Bulbous nose, Cardiomegaly, Cataract, Chest pain, Cognitive impairment, Cone-shaped epiphysis, Congestive heart failure, Coronary artery disease, Craniosynostosis, Crumpled ear, Cutis laxa, Cutis marmorata, Cystic medial necrosis of the aorta, Decreased muscle mass, Decreased nerve conduction velocity, Decreased testicular size, Deep philtrum, Deeply set eye, Delayed skeletal maturation, Dental crowding, Depressed nasal bridge, Descending aortic dissection, Dilatation of ascending aorta, Disproportionate tall stature, Dolichocephaly, Downslanted palpebral fissures, Dural ectasia, Ectopia lentis, Emphysema, Enlarged thorax, Exertional dyspnea, Feeding difficulties, Fifth metacarpal with ulnar notch, Flexion contracture, Full cheeks, Genu recurvatum, Glaucoma, Hammertoe, Heart murmur, Hepatomegaly, High palate, High, narrow palate, Hoarse voice, Hyperextensibility of the finger joints, Hypertelorism, Hypertension, Hypoplasia of the iris, Hypoplasia of the maxilla, Hyporeflexia, Hypoxemia, Incisional hernia, Increased arm span, Increased axial globe length, Intellectual disability, mild, Intrauterine growth retardation, Iridodonesis, Joint hypermobility, Joint stiffness, Kyphoscoliosis, Lack of skin elasticity, Left ventricular failure, Limitation of joint mobility, Lipoatrophy, Long eyelashes, Long face, Long philtrum, Long toe, Low-set ears, Lumbar hyperlordosis, Macrocephaly, Malar flattening, Mandibular prognathia, Medial rotation of the medial malleolus, Megalocornea, Micrognathia, Microspherophakia, Misalignment of teeth, Mitral annular calcification, Mitral regurgitation, Mitral stenosis, Mitral valve prolapse, Motor delay, Muscular hypotonia, Myopia, Narrow face, Narrow mouth, Narrow nose, Narrow palate, Neonatal respiratory distress, Oligohydramnios, Ovoid vertebral bodies, Paroxysmal dyspnea, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pes cavus, Pes planus, Pes valgus, Pneumothorax, Premature birth, Premature osteoarthritis, Prominent forehead, Prominent nasal bridge, Proportionate short stature, Proptosis, Protrusio acetabuli, Pulmonary arterial hypertension, Pulmonary artery dilatation, Pulmonic stenosis, Reduced subcutaneous adipose tissue, Respiratory insufficiency, Retinal detachment, Retrognathia, Round face, Scaphocephaly, Scoliosis, Severe Myopia, Severe short stature, Shallow anterior chamber, Shallow orbits, Short foot, Short long bone, Short metacarpal, Short nose, Short palm, Short phalanx of finger, Short stature, Short thumb, Small for gestational age, Small hand, Smooth philtrum, Spinal canal stenosis, Spondylolisthesis, Stiff skin, Striae distensae, Talipes calcaneovarus, Tall stature, Thick lower lip vermilion, Thickened skin, Thin bony cortex, Thin upper lip vermilion, Toe walking, Tricuspid regurgitation, Tricuspid valve prolapse, Ventricular septal defect, Wide nasal bridge
Mural	ZC3HAV1	2.028385626	1.17E-07	-	BrainSpLMD|56829;Eurexp|euxassay_012472|lobe, thymus primordium	OMIM|607312
Mural	INPP4B	3.741498121	1.20E-07	Enzyme: Phosphotransferase	BrainSpLMD|8821;Eurexp|euxassay_012070|mantle layer, mesenchyme, penis, skeletal muscle, vertebral axis muscle system;BrainSpMouseDev|87845	OMIM|607494
Mural	ANXA1	2.285569808	1.22E-07	Calcium binding protein	BrainSpLMD|301;Eurexp|euxassay_004813|clavicle, epidermis, fundus region, left lung, mandible, oesophagus, oral epithelium, rib, right lung, stomach, submandibular gland primordium, thyroid, trachea, urethra, ventricular layer, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|151690
Mural	ITPR2	1.222554341	1.26E-07	Transport/cargo protein	BrainSpLMD|3709;Eurexp|euxassay_013833|mantle layer	OMIM|600144;HPO|3709|Anhidrosis, Autosomal recessive inheritance, Generalized anhidrosis, Heat intolerance
Mural	ITGA11	3.514829635	1.28E-07	Adhesion molecule	BrainSpLMD|22801;Eurexp|euxassay_008538|axial skeleton, clavicle, femur, humerus, mandible, maxilla, meninges, mesenchyme, paraxial mesenchyme, pelvic girdle, rib, scapula, thymus primordium	OMIM|604789
Mural	TBX15	2.216311684	1.33E-07	Transcription factor	Eurexp|euxassay_000953|dermis, diaphragm, mesenchyme, skeleton;BrainSpMouseDev|21145	OMIM|604127;HPO|6913|2-3 toe syndactyly, 4-5 toe syndactyly, Abnormal facial shape, Abnormality of the joint spaces of the elbow, Abnormality of the pinna, Abnormality of the skull base, Absent proximal finger flexion creases, Alveolar ridge overgrowth, Ambiguous genitalia, female, Ambiguous genitalia, male, Anterior rounding of vertebral bodies, Autosomal recessive inheritance, Bell-shaped thorax, Blepharophimosis, Brachydactyly, Camptodactyly, Cleft palate, Clinodactyly of the 5th finger, Congenital hip dislocation, Deeply set eye, Dislocated radial head, Elbow flexion contracture, Facial hirsutism, Fibular aplasia, Frontal bossing, Hearing impairment, Humeroradial synostosis, Hydranencephaly, Hydrocephalus, Hydronephrosis, Hypertelorism, Hypoplastic ilia, Hypoplastic iliac wing, Hypoplastic ischia, Hypoplastic pubic bone, Hypoplastic scapulae, Joint contracture of the hand, Long clavicles, Low posterior hairline, Low-set ears, Macrocephaly, Mesomelia, Mesomelic leg shortening, Microcornea, Microglossia, Micrognathia, Microphthalmia, Microtia, first degree, Prominent protruding coccyx, Redundant neck skin, Rhizomelia, Short femur, Short neck, Short palpebral fissure, Short stature, Stenosis of the external auditory canal, Strabismus, Talipes equinovarus, Toe syndactyly, Wrist flexion contracture
Mural	UTRN	1.131280705	1.34E-07	Anchor protein	BrainSpLMD|7402;Eurexp|euxassay_013991|bladder, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, primitive seminiferous tubules, rectum, stomach, trigeminal V, urethra	SFARI||Autism, No category;OMIM|128240
Mural	CEBPB	1.787797587	1.46E-07	Transcription factor	BrainSpLMD|1051;Eurexp|euxassay_019532|medulla, submandibular gland primordium	OMIM|189965
Mural	CLIC1	2.074845469	1.53E-07	Intracellular ligand gated channel	BrainSpLMD|1192	OMIM|602872
Mural	RP11.467L13.5	0.720978696	1.58E-07			
Mural	ANGPT2	1.042890068	1.59E-07	Ligand	BrainSpLMD|285;Eurexp|euxassay_010627|aorta, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5;BrainSpMouseDev|11388	OMIM|601922
Mural	CPM	3.222532334	1.59E-07	Carboxypeptidase	BrainSpLMD|1368;Eurexp|euxassay_012219|cornea, femur, fibula, hindgut, humerus, metatarsus, midgut, naris, olfactory, pelvic girdle, penis, rib, stomach, submandibular gland primordium, tarsus, thymus primordium, tibia, ventricular layer, vibrissa	OMIM|114860
Mural	ADORA2B	3.156604224	1.65E-07	G protein coupled receptor	BrainSpLMD|136	OMIM|600446
Mural	SNRK	1.128880682	1.67E-07	Serine/threonine kinase	BrainSpLMD|54861	OMIM|612760
Mural	SIK1	2.066229387	1.78E-07	Serine/threonine kinase	BrainSpLMD|150094;Eurexp|euxassay_006258|diaphragm, epidermis, head mesenchyme, mantle layer, marginal layer, mesenchyme, naris, oesophagus, olfactory, pharyngo-tympanic tube, respiratory, skeletal muscle, thymus primordium, trachea, urethra, vertebral axis muscle system	SFARI||Autism, No category;OMIM|605705;HPO|150094|Abnormality of skin morphology, Absent speech, Autosomal dominant inheritance, Developmental regression, Dysphagia, Epileptic encephalopathy, Eyelid myoclonias, Feeding difficulties, Focal tonic seizures, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Hyperreflexia, Hypsarrhythmia, Infantile spasms, Lethargy, Muscular hypotonia, Myoclonus, Poor suck, Recurrent respiratory infections, Respiratory distress
Mural	PDE5A	2.008882276	1.86E-07	Enzyme: Phosphodiesterase	BrainSpLMD|8654;BrainSpMouseDev|88926	OMIM|603310
Mural	KITLG	0.984889816	1.88E-07	Growth factor	BrainSpLMD|4254;Eurexp|euxassay_003584|dorsal root ganglion, glomeruli, mantle layer, marginal layer, naris, neural retina, olfactory, olfactory cortex, stroma, thymus primordium, trachea, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|17080	OMIM|184745;HPO|4254|Autosomal dominant inheritance, Cafe-au-lait spot, Heterochromia iridis, Hyperkeratosis, Hypopigmented skin patches, Infantile onset, Multiple lentigines, Premature graying of hair, Progressive hyperpigmentation, Sensorineural hearing impairment, White forelock
Mural	ATP1B2	1.062196666	1.91E-07	ATPase	BrainSpLMD|482;Eurexp|euxassay_011653|lobe, pituitary, ventral grey horn, ventricular layer;BrainSpMouseDev|11718	OMIM|182331
Mural	TIMP1	2.159943627	1.97E-07	Extracellular matrix protein	BrainSpLMD|7076;Eurexp|euxassay_000782|Meckel's cartilage, axial skeleton, chondrocranium, molar	OMIM|305370
Mural	HLA.A	1.791420952	2.03E-07			
Mural	CD40	2.940700783	2.03E-07	Cell surface receptor	BrainSpLMD|958	OMIM|109535;HPO|958|Absence of lymph node germinal center, Autosomal recessive inheritance, IgA deficiency, IgE deficiency, IgG deficiency, Immunodeficiency, Impaired Ig class switch recombination, Impaired memory B-cell generation, Increased IgM level, Neutropenia, Recurrent bacterial infections
Mural	LINC00984	0.421568019	2.05E-07			
Mural	TRPC6	2.687780837	2.06E-07	Ion channel	BrainSpLMD|7225;Eurexp|euxassay_007416|left, right;BrainSpMouseDev|21825	SFARI||Autism, 3 - Suggestive evidence;OMIM|603652;HPO|7225|Chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria
Mural	SNTB1	3.125260747	2.14E-07	Adapter molecule	BrainSpLMD|6641;BrainSpMouseDev|20411	OMIM|600026
Mural	PARD3	1.93525458	2.20E-07	Adapter molecule	BrainSpLMD|56288;BrainSpMouseDev|60394	OMIM|606745
Mural	COX8A	1.360416372	2.23E-07	Enzyme: Oxidoreductase	BrainSpLMD|1351	OMIM|123870
Mural	CD2AP	2.189885164	2.26E-07	Adapter molecule	BrainSpLMD|23607;Eurexp|euxassay_018806|mandible, maxilla, submandibular gland primordium, vibrissa	OMIM|604241;HPO|23607|Focal segmental glomerulosclerosis, Hematuria, Hypertension, Proteinuria, Renal insufficiency
Mural	SLC25A5	1.61581972	2.28E-07	Integral membrane protein		OMIM|300150
Mural	KLF9	3.496250108	2.49E-07	Transcription factor	BrainSpLMD|687;Eurexp|euxassay_012054|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, otic capsule, pelvic girdle, rib, temporal bone, tibia, turbinate	OMIM|602902
Mural	MT.ND5	0.69873097	2.74E-07			
Mural	KCNMB1	2.905596846	2.91E-07	Unclassified	BrainSpLMD|3779;Eurexp|euxassay_011986|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, rib, scapula, tarsus, tibia, turbinate bones, vault of skull	OMIM|603951
Mural	NBL1	1.330166885	3.18E-07	Secreted polypeptide	BrainSpLMD|4681	OMIM|600613
Mural	MYADM	1.555452193	3.34E-07	Unclassified	BrainSpLMD|91663;Eurexp|euxassay_004288|femur, footplate, forelimb, hindlimb, mesenchyme, tail	OMIM|609959
Mural	LDHB	0.366817088	3.61E-07	Enzyme: Dehydrogenase	BrainSpLMD|3945	OMIM|150100
Mural	ATL3	1.809158674	3.72E-07	Unclassified	BrainSpLMD|25923;Eurexp|euxassay_001705|orbito-sphenoid, ventricular layer	OMIM|609369;HPO|25923|Autosomal dominant inheritance, Hallux valgus, Hyperkeratosis, Hyporeflexia of lower limbs, Osteolytic defects of the phalanges of the hand, Osteomyelitis, Sensory axonal neuropathy
Mural	SMTN	1.635093554	3.78E-07	Cytoskeletal associated protein	BrainSpLMD|6525;Eurexp|euxassay_002787|alimentary system, hindgut, limb, midgut, oesophagus, rectum, stomach, vertebral axis muscle system, wall	OMIM|602127
Mural	GGT1	4.175899085	3.84E-07	Enzyme: Transferase	BrainSpLMD|2678;Eurexp|euxassay_010561|glomeruli, metanephros	OMIM|612346;HPO|2678|Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Intellectual disability
Mural	FOS	1.365985494	3.85E-07	Transcription factor	BrainSpLMD|2353;Eurexp|euxassay_012634|mandible, maxilla;BrainSpMouseDev|14058	OMIM|164810;HPO|2353|Abnormality of skin pigmentation, Acanthosis nigricans, Accelerated skeletal maturation, Bone cyst, Broad foot, Diabetes mellitus, Generalized hirsutism, Growth hormone excess, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hyperinsulinemia, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Insulin resistance, Intellectual disability, Large hands, Lipoatrophy, Mandibular prognathia, Precocious puberty, Prominent supraorbital ridges, Skeletal muscle hypertrophy
Mural	RCSD1	2.436761115	3.92E-07	Unclassified	BrainSpLMD|92241;Eurexp|euxassay_003001|calyces, chondrocranium, foregut-midgut junction, glomeruli, hindgut, meninges, midgut, oesophagus, pelvis, rectum, stomach, thymus primordium	OMIM|610579
Mural	RGS16	2.030668129	4.11E-07	GTPase activating protein	BrainSpLMD|6004;Eurexp|euxassay_006229|diaphragm, dorsal grey horn, lip, mantle layer, marginal layer, mesenchyme, neural retina, skeletal muscle, ventricular layer, vertebral axis muscle system	OMIM|602514
Mural	IKBKE	2.811545985	4.20E-07	Serine/threonine kinase	BrainSpLMD|9641;Eurexp|euxassay_018519|4th ventricle, choroid invagination, mesenchyme, naris, otic capsule, rib, submandibular gland primordium, thymus primordium, turbinate bones	OMIM|605048
Mural	FLT1	2.404804162	4.33E-07	Receptor tyrosine kinase	BrainSpLMD|2321;Eurexp|euxassay_010387|embryo;BrainSpMouseDev|14031	SFARI||Autism, 5 - Hypothesized but untested;OMIM|165070
Mural	SPTBN1	1.189586496	4.36E-07	Cytoskeletal protein	BrainSpLMD|6711	OMIM|182790
Mural	MT.CO2	0.795326059	4.54E-07			
Mural	SYNPO2	2.767865948	4.65E-07	Unclassified		
Mural	RREB1	2.086024878	4.70E-07	Transcription factor	BrainSpLMD|6239;Eurexp|euxassay_007568|mantle layer;BrainSpMouseDev|44592	OMIM|602209;HPO|6239|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
Mural	PLS3	0.776294818	4.74E-07	Structural protein	BrainSpLMD|5358	OMIM|300131;HPO|5358|Osteopenia, Osteoporosis, Vertebral compression fractures, X-linked dominant inheritance
Mural	LINC01091	2.859422734	4.96E-07			
Mural	TNFRSF21	2.159930701	5.07E-07	Cell surface receptor	BrainSpLMD|27242;Eurexp|euxassay_012361|anterior, brain, calyces, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, lip, meninges, mesenchyme, olfactory, pelvis, posterior, right lung, spinal cord, stomach, trigeminal V, ureter, utricle, vagus X, vestibulocochlear VIII	OMIM|605732
Mural	AC093616.4	3.140109091	5.52E-07			
Mural	TRPC3	2.899100912	5.65E-07	Ion channel	BrainSpLMD|7222	OMIM|602345;HPO|7222|Adult onset, Autosomal dominant inheritance, Cerebellar atrophy, Progressive, Unsteady gait
Mural	HSPA2	2.574261532	5.73E-07	Heat shock protein	BrainSpLMD|3306;Eurexp|euxassay_003311|basal plate, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, pancreas, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|140560
Mural	PPM1H	3.054525949	5.83E-07	Unclassified;Enzyme: Phosphatase	BrainSpLMD|57460;Eurexp|euxassay_001457|cervical, cervico-thoracic, dorsal root ganglion, lobe, thoracic, thymus primordium, trigeminal V	OMIM|616016
Mural	MTATP6P1	1.059528965	6.08E-07			
Mural	ARHGAP6	2.736610269	6.09E-07	GTPase activating protein	BrainSpLMD|395	OMIM|300118
Mural	TENC1	0.882501517	6.68E-07			
Mural	ITGA10	2.72194869	6.77E-07	Cell surface receptor	BrainSpLMD|8515;Eurexp|euxassay_011003|Meckel's cartilage, basioccipital bone, basisphenoid bone, cervical region, femur, fibula, hip, humerus, lumbar region, mandible, maxilla, nasal septum, orbito-sphenoid, otic capsule, petrous part, pituitary, rib, sacral region, scapula, tarsus, thoracic region, tibia, turbinate	OMIM|604042
Mural	AKAP12	1.354283846	7.52E-07	Anchor protein	BrainSpLMD|9590	OMIM|604698
Mural	PRSS23	1.14893758	7.66E-07	Serine protease	BrainSpLMD|11098;Eurexp|euxassay_007251|axial skeleton, incisor, metanephros, physiological umbilical hernia, turbinate bones	
Mural	RPLP1	1.04268604	8.03E-07	Ribosomal subunit		OMIM|180520
Mural	ECH1	1.42156586	8.79E-07	Enzyme: Hydratase	BrainSpLMD|1891	OMIM|600696
Mural	7-Mar	0.584061373	9.07E-07			
Mural	SSR3	1.441578404	9.17E-07	Membrane transport protein	BrainSpLMD|6747	OMIM|606213
Mural	ATP8B1	1.947275884	9.30E-07	ATPase	BrainSpLMD|5205	OMIM|602397;HPO|5205|Abnormal liver function tests during pregnancy, Autosomal dominant inheritance, Autosomal recessive inheritance, Cirrhosis, Conjugated hyperbilirubinemia, Diarrhea, Failure to thrive, Fat malabsorption, Fetal distress, Hearing impairment, Hepatomegaly, Increased serum bile acid concentration, Increased serum bile acid concentration during pregnancy, Infantile onset, Intermittent jaundice, Intrahepatic cholestasis, Intrahepatic cholestasis with episodic jaundice, Jaundice, Pancreatitis, Premature birth, Pruritus, Severe short stature, Splenomegaly
Mural	DGKH	1.868625203	9.47E-07	Lipid Kinase	BrainSpLMD|160851;Eurexp|euxassay_009546|dorsal root ganglion, glossopharyngeal IX, neural retina, trigeminal V, vagus X	OMIM|604071
Mural	RP11.529H20.3	0.768545934	9.50E-07			
Mural	SERPINE1	2.527471531	9.56E-07	Protease inhibitor	BrainSpLMD|5054;Eurexp|euxassay_012476|aorta	SFARI||Autism, No category;OMIM|173360;HPO|5054|Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital onset, Menorrhagia
Mural	TUBAP2	0.5361238	9.77E-07			
Mural	PPIB	1.500057141	9.80E-07	Chaperone	BrainSpLMD|5479;Eurexp|euxassay_000530|basioccipital bone, basisphenoid bone, cranium, nucleus pulposus, orbito-sphenoid, otic capsule, rib, sphenoid	OMIM|123841;HPO|5479|Autosomal recessive inheritance, Blue sclerae, Bowing of limbs due to multiple fractures, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Kyphosis, Multiple prenatal fractures, Pectus carinatum, Pectus excavatum, Recurrent fractures, Scoliosis, Wormian bones
Mural	MSX1	1.716265227	9.86E-07	Transcription regulatory protein	BrainSpLMD|4487;BrainSpMouseDev|17468	OMIM|142983;HPO|4487|Agenesis of permanent teeth, Autosomal dominant inheritance, Cleft palate, Cleft upper lip, Concave nail, Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Fine hair, Fragile nails, Hypodontia, Hypoplasia of the maxilla, Hypoplastic fingernail, Hypoplastic toenails, Microdontia, Microdontia of primary teeth, Micrognathia, Nail pits, Oligodontia, Ridged fingernail, Ridged nail, Small nail, Sparse hair, Thin toenail
Mural	FOXP1	0.854882503	1.02E-06	Transcription factor	BrainSpLMD|27086;Eurexp|euxassay_012052|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, handplate, humerus, mantle layer, mesenchyme, metatarsus, nasal septum, orbito-sphenoid, pelvic girdle, rib, scapula, temporal bone, tibia, turbinate;BrainSpMouseDev|72814	SFARI||Autism, 2 - Strong candidate;OMIM|605515;COSMIC||ALL;HPO|27086|Aggressive behavior, Anemia, Autosomal dominant inheritance, B-cell lymphoma, Broad nasal tip, Constipation, Delayed gross motor development, Delayed speech and language development, Downslanted palpebral fissures, Fatigue, Fever, Generalized hypotonia, Hyperactivity, Hyperhidrosis, Hypertelorism, Intellectual disability, Macrocephaly, Nausea and vomiting, Nystagmus, Open mouth, Prominent forehead, Pulmonary infiltrates, Retrognathia, Short nose, Stereotypy, Strabismus, Weight loss
Mural	ARHGAP10	2.993749543	1.05E-06	GTPase activating protein	BrainSpLMD|79658	OMIM|609746
Mural	ST3GAL5	1.58785234	1.12E-06	Enzyme: Sialyltransferase	BrainSpLMD|8869	OMIM|604402;HPO|8869|Absent speech, Autosomal recessive inheritance, Choreoathetosis, Cortical visual impairment, Developmental regression, Developmental stagnation at onset of seizures, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Generalized tonic-clonic seizures, Global brain atrophy, Global developmental delay, Hypermelanotic macule, Hyporeflexia of upper limbs, Irritability, Lower limb hyperreflexia, Myoclonus, Optic atrophy, Status epilepticus, Visual loss, Vomiting
Mural	PRRX1	2.180611811	1.17E-06	Transcription regulatory protein	BrainSpLMD|5396;Eurexp|euxassay_014259|associated mesenchyme, mesenchyme, metatarsus, nasal septum, penis, pharyngo-tympanic tube;BrainSpMouseDev|18696	OMIM|167420;COSMIC||AML;HPO|5396|Abnormality of the cranial nerves, Abnormality of the eye, Absent nares, Agenesis of corpus callosum, Aglossia, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the eyebrow, Autosomal dominant inheritance, Autosomal recessive inheritance, Cleft palate, Conductive hearing impairment, Cyclopia, Downslanted palpebral fissures, Holoprosencephaly, Hypoplasia of penis, Hypoplasia of the epiglottis, Laryngeal hypoplasia, Low-set, posteriorly rotated ears, Mandibular aplasia, Microglossia, Micrognathia, Narrow internal auditory canal, Narrow mouth, Phenotypic variability, Polyhydramnios, Respiratory distress, Situs inversus totalis, Synotia, Tracheomalacia
Mural	PTGS2	3.266299337	1.17E-06	Enzyme: Synthase	BrainSpLMD|5743;BrainSpMouseDev|18988	SFARI||Autism, 4 - Minimal evidence;OMIM|600262
Mural	GPC5	2.956500749	1.18E-06	Cell surface receptor	BrainSpLMD|2262;Eurexp|euxassay_011731|footplate, mantle layer, marginal layer	OMIM|602446
Mural	TNKS1BP1	2.134235712	1.24E-06	Unclassified	BrainSpLMD|85456	OMIM|607104
Mural	CAV2	3.138696682	1.38E-06	Integral membrane protein	BrainSpLMD|858	OMIM|601048
Mural	PLTP	2.090197621	1.58E-06	Transport/cargo protein	BrainSpLMD|5360	OMIM|172425
Mural	SERPINB9	1.191833657	1.61E-06	Protease inhibitor	BrainSpLMD|5272	OMIM|601799
Mural	PELO	2.131216482	1.77E-06	Cell cycle control protein	Eurexp|euxassay_002572|orbito-sphenoid	OMIM|605757
Mural	LGALS3BP	2.866037743	1.88E-06	Extracellular matrix protein	BrainSpLMD|3959;Eurexp|euxassay_002816|axial muscle, choroid plexus, foregut-midgut junction, hindgut, integumental system, lateral recess, lobe, midgut, pancreas, rectum, renal/urinary system, stomach, thymus primordium	OMIM|600626
Mural	SERF2	1.264497029	1.89E-06	RNA binding protein	BrainSpLMD|10169;Eurexp|euxassay_007238|cranium	OMIM|605054
Mural	TRIM38	2.27732667	1.97E-06	Ubiquitin proteasome system protein	BrainSpLMD|10475	
Mural	RALB	1.972832424	2.04E-06	GTPase	BrainSpLMD|5899	OMIM|179551
Mural	TSC22D3	1.388510196	2.06E-06	Transcription regulatory protein	BrainSpLMD|1831;Eurexp|euxassay_000517|facial bones primordia, optic foramen, orbital fissure, orbito-sphenoid, otic capsule, turbinate, vestibular component;BrainSpMouseDev|14381	OMIM|300506
Mural	ADAMTS1	2.798758024	2.11E-06	Metallo protease	BrainSpLMD|9510;Eurexp|euxassay_004197|clavicle, cranium, mandible, maxilla, rib	OMIM|605174
Mural	HLA.C	1.833869842	2.12E-06			
Mural	ALDOA	1.194587661	2.13E-06	Enzyme: Lyase;Enzyme: Aldolase	BrainSpLMD|226	OMIM|103850;HPO|226|Autosomal recessive inheritance, Cholecystitis, Cholelithiasis, Delayed puberty, Epicanthus, Jaundice, Low posterior hairline, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Ptosis, Short neck, Short stature, Splenomegaly
Mural	NR3C1	1.805157222	2.18E-06	Nuclear receptor;Transcription factor	BrainSpLMD|2908;BrainSpMouseDev|14591	OMIM|138040;HPO|2908|Abnormal serum testosterone level, Acne, Adrenal hyperplasia, Autosomal dominant inheritance, Decreased circulating aldosterone level, Fatigue, Hirsutism, Hypertension, Hypoglycemia, Hypokalemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased urinary cortisol level, Metabolic alkalosis, Oligomenorrhea
Mural	LPL	2.134526952	2.30E-06	Enzyme: Lipase	BrainSpLMD|4023;Eurexp|euxassay_004410|anterior, atrium, choroid plexus, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, liver, mantle layer, marginal layer, mesenchyme, olfactory, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, ventricle;BrainSpMouseDev|16726	SFARI||Autism, No category;OMIM|609708;HPO|4023|Autosomal dominant inheritance, Autosomal recessive inheritance, Episodic abdominal pain, Eruptive xanthomas, Hepatosplenomegaly, Hypercholesterolemia, Increased circulating chylomicron levels, Increased circulating low-density lipoprotein levels, Increased circulating very-low-density lipoprotein levels, Jaundice, Lactescent serum, Lipemia retinalis, Myocardial infarction, Nausea, Pancreatitis, Splenomegaly, Vomiting
Mural	SLC9A3R1	3.142937517	2.49E-06	Membrane bound ligand	BrainSpLMD|9368;Eurexp|euxassay_012152|calyces, epithelium, incisor, liver, marginal layer, mesothelium, midgut, molar, olfactory, pharyngo-tympanic tube, pituitary, rectum, stomach, thymus primordium, trigeminal V, urogenital mesentery, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|26686	OMIM|604990;HPO|9368|Autosomal dominant inheritance, Hyperphosphaturia, Hypophosphatemia, Increased susceptibility to fractures, Nephrolithiasis, Osteopenia, Osteoporosis, Renal phosphate wasting
Mural	SERINC3	1.626587633	2.53E-06	Integral membrane protein	BrainSpLMD|10955;Eurexp|euxassay_004869|dorsal root ganglion, facial VII, glossopharyngeal IX, left, mandible, maxilla, medulla, orbito-sphenoid, right, testis, thymus primordium, trigeminal V	OMIM|607165
Mural	RP11.488L18.10	1.474194341	2.64E-06			
Mural	MT.ATP8	0.844661104	2.71E-06			
Mural	ERO1L	0.803027607	2.73E-06			
Mural	ALX4	2.640117687	2.90E-06	Transcription factor	BrainSpLMD|60529;Eurexp|euxassay_012265|extrinsic ocular muscle, eye, mandible, meninges, penis, roof plate, submandibular gland primordium, turbinate bones, vibrissa;BrainSpMouseDev|11482	OMIM|605420;HPO|60529|Agenesis of cerebellar vermis, Agenesis of corpus callosum, Alopecia, Anteverted nares, Aplasia cutis congenita of scalp, Autosomal dominant inheritance, Autosomal recessive inheritance, Bifid nasal tip, Bifid nose, Brachycephaly, Broad nasal tip, Broad philtrum, Calvarial skull defect, Cerebellar vermis hypoplasia, Conical tooth, Coronal craniosynostosis, Craniosynostosis, Cryptorchidism, Decreased skull ossification, Depressed nasal bridge, Depressed nasal ridge, Depressed nasal tip, Dolichocephaly, Downturned corners of mouth, Encephalocele, Epicanthus, Exostoses, Fine hair, Frontal bossing, Global developmental delay, Hypertelorism, Hypogonadism, Hypoplasia of the corpus callosum, Intellectual disability, mild, Intellectual disability, moderate, Intrauterine growth retardation, Low-set ears, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Nystagmus, Oligohydramnios, Parietal foramina, Prominent nasal bridge, Scrotal hypoplasia, Seizures, Short palpebral fissure, Short philtrum, Sparse and thin eyebrow, Sparse eyelashes, Strabismus, Symmetrical, oval parietal bone defects, Telecanthus, Underdeveloped nasal alae, Upslanted palpebral fissure, Variable expressivity, Wide nasal bridge
Mural	SPRY4	3.029244293	2.93E-06	Unclassified	BrainSpLMD|81848;Eurexp|euxassay_005250|brain, cervical, cervico-thoracic, cortex, diaphragm, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, incisor, lung, mesenchyme, metanephros, midgut, molar, naris, naso-lacrimal duct, rectum, spinal cord, stomach, thoracic, tongue, trigeminal V, turbinate bones, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|607984;HPO|81848|Abnormality of body height, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Anosmia, Anterior hypopituitarism, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Depressivity, Erectile abnormalities, Eunuchoid habitus, Female hypogonadism, Gynecomastia, Hypogonadotrophic hypogonadism, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Increased female libido, Male hypogonadism, Micropenis, Non-obstructive azoospermia, Osteopenia, Osteoporosis, Primary amenorrhea, Reduced bone mineral density, Secondary amenorrhea, Sparse axillary hair, Sparse body hair, Sparse pubic hair, Wide intermamillary distance
Mural	MT2A	1.809231158	3.05E-06	Unclassified	Eurexp|euxassay_004529|left, oesophagus, pancreas, pharyngo-tympanic tube, right, stomach, submandibular gland primordium, thyroid, vibrissa	OMIM|156360
Mural	HBEGF	2.325573938	3.18E-06	Growth factor	BrainSpLMD|1839;BrainSpMouseDev|14976	OMIM|126150
Mural	CALU	1.310921032	3.23E-06	Calcium binding protein	BrainSpLMD|813	OMIM|603420
Mural	TGFB1I1	1.3406683	3.57E-06	Transcription regulatory protein	BrainSpLMD|7041	OMIM|602353
Mural	NTM	1.508669519	3.59E-06	Adhesion molecule	BrainSpLMD|50863;Eurexp|euxassay_012548|axial skeleton, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, meninges, mesenchyme, neural retina, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|87964	OMIM|607938
Mural	AC133106.2	3.273916583	3.86E-06			
Mural	LINGO1	1.837019553	4.00E-06	Unclassified	BrainSpLMD|84894	OMIM|609791
Mural	ANXA2	0.974236779	4.02E-06	Calcium binding protein	BrainSpLMD|302;Eurexp|euxassay_013682|basal plate, mantle layer, ventral grey horn;BrainSpMouseDev|12091	OMIM|151740
Mural	GAPDH	0.598113499	4.20E-06	Enzyme: Dehydrogenase		OMIM|138400
Mural	CTTN	0.780815956	4.29E-06	Cytoskeletal associated protein	BrainSpLMD|2017	OMIM|164765
Mural	ITGB1	1.463212426	4.32E-06	Cell surface receptor	BrainSpLMD|3688;Eurexp|euxassay_010970|aorta, bladder, clavicle, floor plate, floorplate, lung, mandible, maxilla, midgut, oesophagus, orbito-sphenoid, rib, stomach, submandibular gland primordium;BrainSpMouseDev|16185	OMIM|135630
Mural	STK3	1.899377771	4.46E-06	Serine/threonine kinase	BrainSpLMD|6788	OMIM|605030
Mural	TES	2.251589568	4.73E-06	Secreted polypeptide	BrainSpLMD|26136;Eurexp|euxassay_004840|adenohypophysis, brain, dorsal root ganglion, extrinsic ocular muscle, facial VII, hindgut, humerus, incisor, left lung, loop, medullary stroma, midgut, molar, neural retina, oesophagus, pituitary, rectum, right lung, spinal cord, stomach, stroma, submandibular gland primordium, thymus primordium, trachea, trigeminal V, vagus X, vibrissa	OMIM|606085
Mural	NUPR1	1.244854686	4.76E-06	DNA binding protein	BrainSpLMD|26471;Eurexp|euxassay_002170|Meckel's cartilage, incisor, molar, orbito-sphenoid, pancreas	OMIM|614812
Mural	PRKAR1A	1.230310148	4.89E-06	Serine/threonine kinase	BrainSpLMD|5573;Eurexp|euxassay_001469|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V	OMIM|188830;COSMIC||papillary thyroid, myxoma, endocrine, papillary thyroid;HPO|5573|Abnormal form of the vertebral bodies, Abnormal prolactin level, Abnormality of circulating adrenocorticotropin level, Abnormality of female external genitalia, Abnormality of immune system physiology, Abnormality of the eye, Abnormality of the nail, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Adrenal hyperplasia, Agitation, Anteverted nares, Anxiety, Autism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bacterial endocarditis, Blue irides, Blue nevus, Brachycephaly, Brachydactyly, Broad nasal tip, Broad palm, Bruising susceptibility, Calvarial hyperostosis, Cardiac myxoma, Cerebral venous thrombosis, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Congenital craniofacial dysostosis, Congenital hypothyroidism, Congestive heart failure, Cryptorchidism, Decreased circulating ACTH level, Delayed eruption of teeth, Delayed speech and language development, Dental malocclusion, Depressed nasal bridge, Depressed nasal ridge, Depressivity, Diabetes mellitus, Dislocated radial head, Disproportionate short-limb short stature, Easy fatigability, Elevated calcitonin, Elevated circulating parathyroid hormone level, Enlarged polycystic ovaries, Epicanthus, Epiphyseal stippling, Exertional dyspnea, Fatigue, Freckling, Global developmental delay, Growth hormone deficiency, Growth hormone excess, Hearing impairment, Heart murmur, Heterogeneous, Hirsutism, Hydrocephalus, Hyperactivity, Hyperphosphatemia, Hypertelorism, Hypertension, Hypocalcemia, Hypodontia, Hypogonadism, Hypoplasia of the maxilla, Hypoplasia of the nasal bone, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic vertebral bodies, Hypospadias, Increased circulating cortisol level, Increased intracranial pressure, Increased susceptibility to fractures, Increased urinary cortisol level, Intellectual disability, Intrauterine growth retardation, Kyphosis, Long hallux, Malar flattening, Mandibular prognathia, Melanocytic nevus, Menstrual irregularities, Mental deterioration, Micromelia, Midface retrusion, Mild postnatal growth retardation, Mild short stature, Mood changes, Multiple lentigines, Muscle weakness, Myxoid subcutaneous tumors, Narrow vertebral interpedicular distance, Neonatal epiphyseal stippling, Nevus, Non-medullary thyroid carcinoma, Obesity, Onset, Open mouth, Optic atrophy, Osteopenia, Osteoporosis, Papillary thyroid carcinoma, Paradoxical increased cortisol secretion on dexamethasone suppression test, Peripheral Schwannoma, Peripheral neuropathy, Pheochromocytoma, Pigmented micronodular adrenocortical disease, Pituitary adenoma, Pituitary growth hormone cell adenoma, Primary hypercorticolism, Profuse pigmented skin lesions, Pseudohypoparathyroidism, Psychosis, Pulmonic valve myxoma, Red hair, Round face, Schwannoma, Scoliosis, Short metacarpal, Short metatarsal, Short nose, Short palm, Short phalanx of finger, Short stature, Short toe, Skeletal muscle atrophy, Slender build, Specific learning disability, Spinal canal stenosis, Strabismus, Striae distensae, Thin skin, Thyroid adenoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Truncal obesity, Vestibular Schwannoma, Wide nasal bridge
Mural	ARPC2	1.027756039	4.90E-06	Cytoskeletal associated protein	BrainSpLMD|10109	OMIM|604224
Mural	SBDS	1.559323989	5.02E-06	Unclassified	BrainSpLMD|51119	OMIM|607444;COSMIC||AML, MDS;HPO|51119|Abnormality of the metaphysis, Acute myeloid leukemia, Anemia, Autosomal recessive inheritance, Coxa vara, Delayed skeletal maturation, Eczema, Elevated hepatic transaminases, Enlargement of the costochondral junction, Exocrine pancreatic insufficiency, Failure to thrive, Generalized hypotonia, Global developmental delay, Hepatomegaly, Ichthyosis, Intellectual disability, Intellectual disability, mild, Irregular ossification at anterior rib ends, Malabsorption, Metaphyseal chondrodysplasia, Metaphyseal sclerosis, Metaphyseal widening, Myelodysplasia, Myocardial necrosis, Narrow chest, Narrow sacroiliac notch, Neonatal respiratory distress, Nephrocalcinosis, Neutropenia, Osteopenia, Ovoid vertebral bodies, Pancytopenia, Persistence of hemoglobin F, Proximal femoral epiphysiolysis, Recurrent infections, Short stature, Small for gestational age, Specific learning disability, Steatorrhea, Thrombocytopenia
Mural	YAP1	0.415656752	5.15E-06	Transcription regulatory protein	BrainSpLMD|10413	OMIM|606608;HPO|10413|Autosomal dominant inheritance, Bilateral cleft lip and palate, Chorioretinal coloboma, Hematuria, Intellectual disability, Iris coloboma, Microphthalmia, Sensorineural hearing impairment
Mural	RASGRP2	2.500905608	5.20E-06	Guanine nucleotide exchange factor	BrainSpLMD|10235	OMIM|605577;HPO|10235|Autosomal recessive inheritance, Epistaxis, Infantile onset, Prolonged bleeding time
Mural	SDHD	1.671417686	5.31E-06	Enzyme: Dehydrogenase	BrainSpLMD|6392	OMIM|602690;COSMIC||paraganglioma, pheochromocytoma;HPO|6392|Abdominal pain, Abnormal mitochondria in muscle tissue, Abnormality of mitochondrial metabolism, Abnormality of the penis, Adenoma sebaceum, Adult onset, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Breast carcinoma, Cafe-au-lait spot, Cavernous hemangioma, Cerebral hemorrhage, Chemodectoma, Cognitive impairment, Colorectal polyposis, Conductive hearing impairment, Congenital cataract, Congestive heart failure, Conjunctival hamartoma, Cranial nerve paralysis, Decreased activity of mitochondrial complex II, Developmental regression, Dilated cardiomyopathy, Dysphagia, Dystonia, Elevated circulating catecholamine level, Elevated urinary norepinephrine, Episodic hypertension, Episodic paroxysmal anxiety, Exercise intolerance, Flexion contracture, Furrowed tongue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Generalized hyperkeratosis, Global developmental delay, Glomus jugular tumor, Glomus tympanicum paraganglioma, Goiter, Hamartomatous polyposis, Hearing impairment, Hemangioma, Hoarse voice, Hypercalcemia, Hyperhidrosis, Hyperreflexia, Hypertension associated with pheochromocytoma, Hypertensive retinopathy, Hypertrophic cardiomyopathy, Increased intramyocellular lipid droplets, Increased serum lactate, Infantile onset, Intellectual disability, Intestinal carcinoid, Intestinal obstruction, Left ventricular noncompaction, Leukoencephalopathy, Lipoma, Loss of voice, Macrocephaly, Macroglossia, Macule, Melanocytic nevus, Meningioma, Mucosal telangiectasiae, Muscle weakness, Myoclonus, Neonatal hypotonia, Neoplasm, Neoplasm of the gastrointestinal tract, Neoplasm of the thyroid gland, Nystagmus, Ophthalmoplegia, Optic atrophy, Palmoplantar keratoderma, Palpitations, Papilloma, Papule, Paraganglioma, Phenotypic variability, Pheochromocytoma, Pigmentary retinopathy, Positive regitine blocking test, Progressive leukoencephalopathy, Proteinuria, Ptosis, Pulsatile tinnitus, Ragged-red muscle fibers, Recurrent paroxysmal headache, Renal artery stenosis, Renal cell carcinoma, Seizures, Short stature, Spasticity, Stress/infection-induced lactic acidosis, Subcutaneous nodule, Tachycardia, Tinnitus, Uterine leiomyoma, Vagal paraganglioma, Visual impairment, Vocal cord paralysis, Weight loss
Mural	WDR1	1.142816028	5.34E-06	Unclassified	BrainSpLMD|9948	OMIM|604734
Mural	TMEM109	2.794934116	5.46E-06	Unclassified	BrainSpLMD|79073	
Mural	PEAK1	1.610026096	5.67E-06	Tyrosine kinase		OMIM|614248
Mural	RSU1	1.472192344	5.89E-06	Unclassified	BrainSpLMD|6251	OMIM|179555
Mural	FNDC3B	1.278011232	5.91E-06	Integral membrane protein	BrainSpLMD|64778	OMIM|611909
Mural	PCBP3	3.037606859	6.34E-06	RNA binding protein	BrainSpLMD|54039;Eurexp|euxassay_017876|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, midgut, neural retina, olfactory cortex, pineal primordium, stomach, thoracic, tongue, trigeminal V, vagus X, ventral grey horn, ventricle, vestibulocochlear VIII	OMIM|608502
Mural	NCK2	1.892601024	6.63E-06	Adapter molecule	BrainSpLMD|8440;BrainSpMouseDev|17741	OMIM|604930
Mural	PTPRG	2.056169755	6.75E-06	Receptor tyrosine phosphatase	BrainSpLMD|5793	OMIM|176886
Mural	GRM8	2.502335352	6.86E-06	G protein coupled receptor	BrainSpLMD|2918;Eurexp|euxassay_002446|dorsal root ganglion, mantle layer;BrainSpMouseDev|14599	SFARI||Autism, 6 - Evidence does not support role;OMIM|601116
Mural	RP11.40C11.2	3.227742247	6.87E-06			
Mural	RFXANK	2.577154457	6.92E-06	Transcription factor	BrainSpLMD|8625	OMIM|603200;HPO|8625|Agammaglobulinemia, Autosomal dominant inheritance, Autosomal recessive inheritance, Biliary tract abnormality, Chronic lymphocytic meningitis, Chronic mucocutaneous candidiasis, Colitis, Cutaneous anergy, Encephalitis, Failure to thrive, Malabsorption, Neutropenia, Panhypogammaglobulinemia, Protracted diarrhea, Recurrent bacterial infections, Recurrent fungal infections, Recurrent lower respiratory tract infections, Recurrent protozoan infections, Recurrent upper respiratory tract infections, Recurrent urinary tract infections, Recurrent viral infections, Villous atrophy, Viral hepatitis
Mural	ABCA8	3.003692769	6.92E-06	Membrane transport protein	BrainSpLMD|10351	OMIM|612505
Mural	OAF	2.361603755	6.94E-06	Unclassified	BrainSpLMD|220323	
Mural	CYSTM1	1.936299837	7.30E-06	Unclassified	BrainSpLMD|84418	
Mural	ZAK	0.880603944	7.53E-06			
Mural	TOB1	0.758659008	7.74E-06	Adapter molecule	BrainSpLMD|10140	OMIM|605523
Mural	ADAP2	1.403922267	8.06E-06	GTPase activating protein	BrainSpLMD|55803	OMIM|608635
Mural	MYL6	1.192280807	8.17E-06	Cytoskeletal protein	BrainSpLMD|4637	OMIM|609931
Mural	IRF2	2.325982012	8.20E-06	Transcription factor	BrainSpLMD|3660;BrainSpMouseDev|16136	OMIM|147576
Mural	PDE3A	2.786092951	8.34E-06	Enzyme: Phosphodiesterase	BrainSpLMD|5139;Eurexp|euxassay_018678|aorta, basioccipital bone, bladder, cranium, lip, liver, mantle layer, medullary stroma, mesenchyme, midgut, naris, rectum, stomach, turbinate bones, urethra, ventricular layer, vibrissa	OMIM|123805;HPO|5139|Autosomal dominant inheritance, Brachydactyly, Hypertension, Short metacarpal, Short phalanx of finger, Short stature
Mural	ANXA5	1.055256444	8.37E-06	Calcium binding protein	BrainSpLMD|308;Eurexp|euxassay_002158|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, meninges, renal/urinary system, reproductive system, respiratory system, tail	OMIM|131230
Mural	DKK3	1.40786157	8.45E-06	Ligand	BrainSpLMD|27122;Eurexp|euxassay_018106|aorta, axial skeleton, femur, humerus, mesenchyme, neural retina, rib, ventricular layer;BrainSpMouseDev|30269	OMIM|605416
Mural	SLC29A1	1.677599862	8.63E-06	Membrane transport protein	BrainSpLMD|2030;Eurexp|euxassay_019687|liver, lobe, phalanx, testis, thymus primordium, tongue, vertebral axis muscle system	OMIM|602193
Mural	ARHGAP24	2.007806177	8.78E-06	GTPase activating protein	BrainSpLMD|83478;Eurexp|euxassay_003218|Meckel's cartilage, axial skeleton, basal plate, calyces, choroid plexus, cranium, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral recess, lobe, molar, orbito-sphenoid, pons, rib, trigeminal V, turbinate bones, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	SFARI||Autism, 5 - Hypothesized but untested;OMIM|610586
Mural	ITPRIP	2.90945931	9.89E-06	Unclassified	BrainSpLMD|85450	
Mural	PPIAP6	0.823961759	1.01E-05			
Mural	SNAI2	1.883582466	1.01E-05	Transcription factor	BrainSpLMD|6591;Eurexp|euxassay_018890|excretory component, hindgut, loop, midgut, rectum, stomach	OMIM|602150;HPO|6591|Abnormality of the ear, Absent pigmentation of the ventral chest, Aganglionic megacolon, Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital sensorineural hearing impairment, Heterochromia iridis, Heterogeneous, Hypopigmented skin patches, Macule, Neoplasm, Partial albinism, Piebaldism, Premature graying of hair, Sensorineural hearing impairment, Telecanthus, White eyebrow, White eyelashes, White forelock
Mural	SFTA1P	2.882215197	1.03E-05			
Mural	SLCO1C1	1.317905096	1.06E-05	Membrane transport protein	BrainSpLMD|53919;Eurexp|euxassay_007061|4th ventricle, choroid plexus, forebrain, hindbrain, meninges, midbrain, spinal cord, ventricular layer	OMIM|613389
Mural	ZMYM6NB	2.226538082	1.07E-05			
Mural	LAPTM4A	1.079118187	1.09E-05	Membrane transport protein	BrainSpLMD|9741	
Mural	NBPF14	0.589824258	1.11E-05	Unclassified		OMIM|614003
Mural	ANXA2P2	0.824046782	1.13E-05		BrainSpLMD|304	
Mural	MT.ATP6	0.806207805	1.23E-05			
Mural	LPAR6	0.852449983	1.23E-05	G protein coupled receptor	BrainSpLMD|10161	OMIM|609239;HPO|10161|Alopecia, Autosomal dominant inheritance, Autosomal recessive inheritance, Brittle hair, Coarse hair, Fair hair, Fine hair, Hypopigmentation of hair, Hypotrichosis, Hypotrichosis of the scalp, Slow-growing hair, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Woolly hair
Mural	APBB2	1.599687887	1.24E-05	Adapter molecule	BrainSpLMD|323;Eurexp|euxassay_007659|corpus striatum, mantle layer, nasal septum, neural retina, turbinate bones, ventral grey horn	OMIM|602710
Mural	ISG15	1.344834737	1.25E-05	Cytokine	BrainSpLMD|9636	OMIM|147571;HPO|9636|Autosomal recessive inheritance, Immunodeficiency, Recurrent mycobacterial infections
Mural	PLOD2	2.416401569	1.28E-05	Enzyme: Hydroxylase	BrainSpLMD|5352;Eurexp|euxassay_008722|axial skeleton, basisphenoid bone, clavicle, exoccipital bone, mesenchyme, nasal septum, otic capsule, petrous part, rib, sternum, tongue, trachea, turbinate	OMIM|601865;HPO|5352|Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Elbow flexion contracture, Femoral bowing, Flexion contracture, Hydroxyprolinuria, Increased susceptibility to fractures, Inguinal hernia, Joint stiffness, Knee flexion contracture, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes equinovarus, Triangular face, Wormian bones
Mural	SEL1L	0.939925644	1.30E-05	Integral membrane protein	BrainSpLMD|6400;BrainSpMouseDev|20101	OMIM|602329
Mural	ARPC4	1.037669062	1.34E-05	Cytoskeletal associated protein	Eurexp|euxassay_002361|dorsal root ganglion	OMIM|604226
Mural	ZFP36	0.590230902	1.38E-05	RNA binding protein	BrainSpLMD|7538	OMIM|190700
Mural	SPRED2	2.103755973	1.43E-05	Unclassified	BrainSpLMD|200734	OMIM|609292
Mural	MMP14	1.160895059	1.52E-05	Metallo protease	BrainSpLMD|4323;Eurexp|euxassay_018541|head mesenchyme, mantle layer, rib	OMIM|600754;HPO|4323|Arthropathy, Coarse facial features, Corneal opacity, Generalized osteoporosis, Gingival overgrowth, Osteolysis involving bones of the feet, Osteolysis involving bones of the upper limbs
Mural	VSTM4	3.65949204	1.57E-05	Integral membrane protein;Unclassified	BrainSpLMD|196740	
Mural	ELK4	2.36837035	1.57E-05	Transcription factor	BrainSpLMD|2005;BrainSpMouseDev|13492	OMIM|600246;COSMIC||prostate
Mural	DOCK10	0.971557676	1.65E-05	Unclassified	BrainSpLMD|55619;Eurexp|euxassay_011695|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thymus primordium, thyroid, trigeminal V, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|611518
Mural	YBX3	2.612493851	1.68E-05	DNA binding protein	BrainSpLMD|8531	OMIM|603437
Mural	MSRB3	2.978037703	1.69E-05	Enzyme: Reductase	BrainSpLMD|253827;Eurexp|euxassay_000090|Meckel's cartilage, axial skeleton, bladder, chondrocranium, clavicle, cochlea, dorsal root ganglion, facial bones primordia, fibula, frontal bone primordium, heart, hindlimb, hip, hyoid bone, inner ear, labyrinth, leg, lower jaw, lower leg, lung, mandible, maxilla, mesenchyme, nucleus pulposus, otic capsule, palatal shelf, pelvic girdle, premaxilla, primary palate, rib, sacral region, scapula, shoulder, skeleton, submandibular gland primordium, tibia, trigeminal V, turbinate, turbinate bones, upper jaw, valve, vault of skull, ventricle, vertebra, vestibular component	OMIM|613719;HPO|253827|Autosomal recessive inheritance, Hearing impairment
Mural	DNAJC3	1.016100565	1.71E-05	Translation regulatory protein	BrainSpLMD|5611	OMIM|601184;HPO|5611|Atrophy/Degeneration affecting the brainstem, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Sensorineural hearing impairment, Short stature, Type I diabetes mellitus
Mural	AB019441.29	0.946621948	1.78E-05			
Mural	IFIT2	2.315286951	1.80E-05	Cytoskeletal associated protein	BrainSpLMD|3433;Eurexp|euxassay_018460|mantle layer, ventricular layer, vertebral axis muscle system	OMIM|147040
Mural	PDZD11	0.83490289	1.80E-05	Unclassified	BrainSpLMD|51248	OMIM|300632
Mural	PPP1R15A	0.303317086	1.95E-05	Cell cycle control protein	BrainSpLMD|23645	OMIM|611048
Mural	MT.CYB	0.538313222	1.97E-05			
Mural	RP13.143G15.4	2.954744312	2.00E-05			
Mural	GSTK1	1.530263221	2.18E-05	Enzyme: Glutathione transferase	BrainSpLMD|373156	OMIM|602321
Mural	ADCY9	2.037074313	2.45E-05	Adenylate cyclase	BrainSpLMD|115;BrainSpMouseDev|11302	OMIM|603302
Mural	COL5A3	2.026744451	2.46E-05	Extracellular matrix protein	BrainSpLMD|50509	OMIM|120216
Mural	ATP6V1A	0.397073429	2.50E-05	Transport/cargo protein	BrainSpLMD|523;Eurexp|euxassay_004518|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|607027;HPO|523|Abnormal apolipoprotein level, Abnormal isoelectric focusing of serum transferrin, Abnormal subcutaneous fat tissue distribution, Broad nasal tip, Carious teeth, Cerebellar hypoplasia, Coarse hair, Congenital hip dislocation, Dandy-Walker malformation, Decreased muscle mass, Delayed closure of the anterior fontanelle, Delayed speech and language development, Dementia, Downslanted palpebral fissures, Excessive wrinkled skin, Failure to thrive, Feeding difficulties, Fragmented elastic fibers in the dermis, Generalized joint laxity, Global developmental delay, High palate, Hypertelorism, Infantile muscular hypotonia, Inguinal hernia, Intellectual disability, profound, Intrauterine growth retardation, Lipodystrophy, Lissencephaly, Long philtrum, Low-set ears, Malar flattening, Motor delay, Pachygyria, Polymicrogyria, Poor speech, Postnatal growth retardation, Progressive microcephaly, Prominent nasolabial fold, Prominent veins on trunk, Psychomotor deterioration, Redundant neck skin, Seizures, Severe Myopia, Short nose, Short stature, Smooth philtrum, Sparse hair, Spasticity, Strabismus, Subretinal pigment epithelium hemorrhage, Thick cerebral cortex, Thick hair
Mural	IGF2R	2.108287402	2.56E-05	Cell surface receptor	BrainSpLMD|3482;Eurexp|euxassay_001742|cardiovascular system, choroid plexus, gland, integumental system, sensory organ, visceral organ	OMIM|147280;HPO|3482|Autosomal dominant inheritance, Hepatocellular carcinoma, Heterogeneous, Micronodular cirrhosis, Somatic mutation, Subacute progressive viral hepatitis
Mural	ABCA10	2.275529085	2.56E-05	Membrane transport protein	BrainSpLMD|10349	SFARI||Autism, 4 - Minimal evidence;OMIM|612508
Mural	CMTM6	1.183893894	2.71E-05	Integral membrane protein	BrainSpLMD|54918	OMIM|607889
Mural	PLSCR4	1.631795642	2.84E-05	Transport/cargo protein	BrainSpLMD|57088;Eurexp|euxassay_010505|oesophagus	OMIM|607612
Mural	ISYNA1	1.207800189	2.97E-05	Enzyme: Isomerase	BrainSpLMD|51477	OMIM|611670
Mural	AEBP1	2.455950755	2.98E-05	Transcription regulatory protein	BrainSpLMD|165	OMIM|602981
Mural	KLF10	1.454968402	3.21E-05	Transcription factor	BrainSpLMD|7071	OMIM|601878
Mural	MTM1	2.86436906	3.23E-05	Lipid phosphatase	BrainSpLMD|4534	OMIM|300415;HPO|4534|Arachnodactyly, Areflexia, Atrioventricular block, Birth length greater than 97th percentile, Cavernous hemangioma, Cryptorchidism, Decreased fetal movement, Decreased liver function, Diaphragmatic eventration, EMG abnormality, External ophthalmoplegia, Facial palsy, Flexion contracture, Gait disturbance, Generalized muscle weakness, Head tremor, High palate, Hydrocephalus, Hypokinesia, Long face, Macrocephaly, Mask-like facies, Muscular hypotonia, Narrow face, Neck muscle weakness, Neonatal respiratory distress, Polyhydramnios, Ptosis, Pyloric stenosis, Respiratory failure requiring assisted ventilation, Scoliosis, Seizures, Severe muscular hypotonia, Skeletal muscle atrophy, Slender toe, X-linked recessive inheritance
Mural	TTYH2	1.967376659	3.26E-05	Unclassified	BrainSpLMD|94015;Eurexp|euxassay_010129|brain, meninges, mesenchyme, spinal cord, ventricular layer	OMIM|608855
Mural	RP11.386J22.3	1.501309602	3.30E-05			
Mural	TMC4	1.267553578	3.35E-05	Integral membrane protein	BrainSpLMD|147798	OMIM|617181
Mural	TSPAN12	2.999792623	3.48E-05	Integral membrane protein	BrainSpLMD|23554	OMIM|613138;HPO|23554|Autosomal dominant inheritance, Exudative vitreoretinopathy, Pigmentary retinal degeneration
Mural	S1PR2	1.600701962	3.58E-05	G protein coupled receptor	BrainSpLMD|9294;Eurexp|euxassay_006718|bladder, incisor, molar	OMIM|605111;HPO|9294|Autosomal recessive inheritance, Infantile onset, Sensorineural hearing impairment
Mural	ACSL3	0.98053206	3.60E-05	Enzyme: Ligase	BrainSpLMD|2181;Eurexp|euxassay_006620|embryo	OMIM|602371;COSMIC||prostate
Mural	BTG2	1.340394602	3.69E-05	Cell cycle control protein	BrainSpLMD|7832;Eurexp|euxassay_000263|alar plate, diencephalon, epithelium, hindbrain, liver, lung, metencephalon, midbrain, neural retina, oesophagus, oral epithelium, spinal cord, stomach, telencephalon, ventricular layer	OMIM|601597
Mural	ABCA6	3.175766692	3.87E-05	Membrane transport protein	BrainSpLMD|23460	OMIM|612504
Mural	C4orf3	1.341544599	3.95E-05	Integral membrane protein	BrainSpLMD|401152	
Mural	SVEP1	0.997951815	4.00E-05	Adhesion molecule	Eurexp|euxassay_013843|bladder, ductus deferens, hindgut, lip, midgut, oesophagus, stomach, turbinate bones	OMIM|611691
Mural	SH2D3C	1.515879998	4.03E-05	Adapter molecule	BrainSpLMD|10044	OMIM|604722
Mural	P4HA1	1.528048426	4.10E-05	Enzyme: Hydroxylase	BrainSpLMD|5033;Eurexp|euxassay_000584|Meckel's cartilage, axial skeleton, chondrocranium, incisor, limb, molar, nasal capsule, pectoral girdle and thoracic body wall	OMIM|176710
Mural	ZIC2	1.652481878	4.25E-05	Transcription regulatory protein	BrainSpLMD|7546;BrainSpMouseDev|22529	OMIM|603073;HPO|7546|Abnormal facial shape, Autosomal dominant inheritance, Global developmental delay, Holoprosencephaly, Hydrocephalus, Intellectual disability, Microcephaly, Synophrys, Trigonocephaly
Mural	IL6ST	1.317993514	4.27E-05	Cytokine receptor	BrainSpLMD|3572;BrainSpMouseDev|15968	OMIM|600694;COSMIC||hepatocellular carcinoma
Mural	UST	2.003525924	4.32E-05	Enzyme: Sulphotransferase	BrainSpLMD|10090	OMIM|610752
Mural	RNU6.748P	2.479245349	4.59E-05			
Mural	MEG3	1.106489605	4.61E-05			OMIM|605636
Mural	GEM	2.132617378	4.77E-05	G protein	BrainSpLMD|2669;Eurexp|euxassay_003192|adrenal gland, clavicle, dorsal grey horn, incisor, molar, oesophagus, testis, ventricular layer, vibrissa	OMIM|600164
Mural	CD4	3.430484673	4.79E-05	T cell antigen receptor	BrainSpLMD|920	OMIM|186940;HPO|920|Abnormal T cell morphology
Mural	AP2M1	0.878816073	4.89E-05	Adapter molecule	BrainSpLMD|1173	OMIM|601024
Mural	HAAO	2.437020263	4.91E-05	Enzyme: Oxygenase	BrainSpLMD|23498	OMIM|604521
Mural	RAC1	0.779122184	4.92E-05	GTPase	BrainSpLMD|5879;BrainSpMouseDev|19116	OMIM|602048;COSMIC||melanoma, carcinoma
Mural	MRC2	1.258521492	4.99E-05	Cell surface receptor	BrainSpLMD|9902;Eurexp|euxassay_009360|mandible, maxilla, meninges, mesenchyme, temporal bone	OMIM|612264
Mural	ATF3	1.648013426	5.00E-05	Transcription regulatory protein	BrainSpLMD|467;Eurexp|euxassay_006681|femur, humerus, ventricle;BrainSpMouseDev|11697	OMIM|603148
Mural	EIF4A1	1.093887452	5.13E-05	Translation regulatory protein	BrainSpLMD|1973	OMIM|602641
Mural	TRIB2	1.624309115	5.35E-05	Serine/threonine kinase	BrainSpLMD|28951;BrainSpMouseDev|85202	OMIM|609462
Mural	C17orf58	0.926392413	5.40E-05	Unclassified	BrainSpLMD|284018;Eurexp|euxassay_007581|olfactory, ventricular layer	
Mural	CDK14	1.175383942	5.40E-05	Serine/threonine kinase	BrainSpLMD|5218;Eurexp|euxassay_007197|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, oesophagus, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|610679
Mural	TMSB4X	0.564880631	5.50E-05	Cytoskeletal associated protein		OMIM|300159
Mural	NDUFA1	1.196988317	5.57E-05	Enzyme: Oxidoreductase	BrainSpLMD|4694;Eurexp|euxassay_003059|facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|300078;HPO|4694|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
Mural	FRMD8	2.077321677	5.77E-05	Cytoskeletal associated protein	BrainSpLMD|83786;Eurexp|euxassay_012085|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, otic capsule, pelvic girdle, rib, scapula, temporal bone, tibia, turbinate	
Mural	NFKBIZ	1.415916319	5.96E-05	Transcription regulatory protein	BrainSpLMD|64332	OMIM|608004
Mural	FKBP10	1.745605454	6.03E-05	Unclassified	BrainSpLMD|60681	OMIM|607063;HPO|60681|Abnormality of the skin, Ankle contracture, Aplasia/Hypoplasia of the patella, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Biconcave vertebral bodies, Blue sclerae, Brachycephaly, Coxa vara, Dentinogenesis imperfecta, Elbow flexion contracture, Elevated alkaline phosphatase, Gait disturbance, Hip contracture, Increased susceptibility to fractures, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Protrusio acetabuli, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes, Talipes equinovarus, Triangular face, Vertebral compression fractures, Vertebral wedging, Wormian bones
Mural	FKBP9P1	1.297661341	6.14E-05	Calcium binding protein		
Mural	KLF6	1.121447328	6.60E-05	Transcription factor	BrainSpLMD|1316;Eurexp|euxassay_018886|mantle layer, marginal layer;BrainSpMouseDev|23602	OMIM|602053;COSMIC||prostate, glioma;HPO|1316|Autosomal dominant inheritance, Prostate cancer, Somatic mutation, Stomach cancer
Mural	MEG8	1.576982447	7.06E-05			OMIM|613648
Mural	LEPROT	0.948119976	7.06E-05	Integral membrane protein		OMIM|613461
Mural	TNFRSF1A	0.277688215	7.20E-05	Cell surface receptor	BrainSpLMD|7132	OMIM|191190;HPO|7132|Abdominal pain, Amyloidosis, Arthralgia, Arthritis, Autosomal dominant inheritance, Conjunctival hyperemia, Constipation, Diarrhea, Edema, Elevated C-reactive protein level, Elevated erythrocyte sedimentation rate, Episodic fever, Erysipelas, Erythema, Hepatic amyloidosis, Intestinal obstruction, Leukocytosis, Lymphadenopathy, Muscle stiffness, Myalgia, Orchitis, Pericarditis, Periorbital edema, Pleuritis, Skin rash, Splenomegaly, Vomiting
Mural	SP140L	1.699905976	7.24E-05	Unclassified	BrainSpLMD|93349	OMIM|617747
Mural	GRAMD3	1.86813077	7.49E-05			
Mural	KDELR2	0.712034546	7.70E-05	Transport/cargo protein	BrainSpLMD|11014;Eurexp|euxassay_004155|axial skeleton, cervical region, clavicle, cranium, femur, fibula, footplate, handplate, humerus, leg, lumbar region, mandible, orbito-sphenoid, otic capsule, palatal shelf, radius, rib, sacral region, sternum, thoracic region, tibia, turbinate bones, ulna	OMIM|609024
Mural	RAPGEF5	2.344797657	7.98E-05	Guanine nucleotide exchange factor	BrainSpLMD|9771;BrainSpMouseDev|85296	OMIM|609527
Mural	TCEAL8	1.754983962	8.06E-05	Unclassified	BrainSpLMD|90843	
Mural	COX6C	0.863873604	8.38E-05	Regulatory/other subunit	BrainSpLMD|1345	OMIM|124090;COSMIC||uterine leiomyoma
Mural	HSPA1A	0.966644261	8.45E-05	Chaperone	BrainSpLMD|3303;Eurexp|euxassay_005687|adrenal gland, testis, vibrissa	OMIM|140550
Mural	CPT1A	1.999558553	8.47E-05	Enzyme: Palmitoyltransferase	BrainSpLMD|1374;Eurexp|euxassay_017982|adrenal gland, bladder, choroid plexus, dorsal root ganglion, glossopharyngeal IX, hindgut, intermediate grey horn, mantle layer, meninges, metanephros, midgut, pancreas, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|600528;HPO|1374|Arrhythmia, Autosomal recessive inheritance, Behavioral abnormality, Cardiomegaly, Coma, Diarrhea, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Fatigue, Feeding difficulties in infancy, Generalized hypotonia, Hemiplegia/hemiparesis, Hepatic failure, Hepatic steatosis, Hepatomegaly, Hyperammonemia, Hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Loss of consciousness, Muscular hypotonia, Neurological speech impairment, Prenatal maternal abnormality, Recurrent encephalopathy, Reduced tendon reflexes, Renal tubular acidosis, Seizures, Skeletal muscle atrophy, Transient hyperlipidemia
Mural	EML4	1.630203265	8.80E-05	Structural protein	BrainSpLMD|27436	OMIM|607442;COSMIC||NSCLC
Mural	LDHA	0.819888268	8.83E-05	Enzyme: Dehydrogenase	BrainSpLMD|3939	OMIM|150000;HPO|3939|Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise intolerance, Increased serum lactate, Increased serum pyruvate, Juvenile onset, Muscle cramps, Muscle stiffness, Myalgia, Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Rigidity
Mural	FAT1	1.848083882	8.91E-05	Adhesion molecule	BrainSpLMD|2195;Eurexp|euxassay_013462|axial skeleton, lung, mandible, maxilla, mesenchyme, rest of mesenchyme, sternum, submandibular gland primordium, vibrissa;BrainSpMouseDev|13884	SFARI||Autism, No category;OMIM|600976;COSMIC||oral squamous cell, chemorefractory CLL, head and neck, pancreatic acinar cell carcinoma, pancreatic
Mural	ATP6V0E1	1.588726897	8.96E-05	ATPase	BrainSpLMD|8992;Eurexp|euxassay_002321|Meckel's cartilage, basisphenoid bone, orbito-sphenoid, turbinate	OMIM|603931
Mural	VAMP8	3.1615449	8.99E-05	Membrane transport protein	BrainSpLMD|8673	OMIM|603177
Mural	MSN	1.91934134	9.27E-05	Cytoskeletal protein	BrainSpLMD|4478;Eurexp|euxassay_009365|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, organ system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	SFARI||Autism, 5 - Hypothesized but untested;OMIM|309845;COSMIC||ALCL;HPO|4478|Decreased antibody level in blood, Eczema, Lymphopenia, Recurrent respiratory infections, Recurrent urinary tract infections, X-linked recessive inheritance
Mural	IFRD1	1.540716281	9.69E-05	Regulatory/other subunit	BrainSpLMD|3475;Eurexp|euxassay_003205|axial muscle, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, molar, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|603502
Mural	C9orf47	3.234621408	9.73E-05	Unclassified	BrainSpLMD|286223	
Mural	AGTRAP	2.842155987	9.76E-05	Unclassified	BrainSpLMD|57085	OMIM|608729
Mural	CD59	1.240821375	0.000100354	Cell surface receptor	BrainSpLMD|966;Eurexp|euxassay_012059|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, brain, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, orbito-sphenoid, pelvic girdle, rib, scapula, spinal cord, temporal bone, tibia, trigeminal V, turbinate, vagus X, vestibulocochlear VIII;BrainSpMouseDev|12294	OMIM|107271;HPO|966|Areflexia, Autosomal recessive inheritance, Generalized hypotonia, Hemolytic anemia, Increased CSF protein, Infantile onset, Limb muscle weakness, Paroxysmal nocturnal hemoglobinuria, Skeletal muscle atrophy
Mural	FERMT2	1.793061081	0.00010414	Cytoskeletal protein	BrainSpLMD|10979;Eurexp|euxassay_012610|hindgut, metanephros, midgut, stomach, ventricular layer, wall	OMIM|607746
Mural	ROCK2	0.992462927	0.00010482	Serine/threonine kinase	BrainSpLMD|9475;BrainSpMouseDev|19641	OMIM|604002
Mural	SLC43A3	1.144227226	0.000105197	Membrane transport protein	BrainSpLMD|29015	
Mural	CD44	3.213529999	0.000109222	Cell surface receptor	BrainSpLMD|960;Eurexp|euxassay_011897|axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, orbito-sphenoid, petrous part, scapula, tibia, turbinate;BrainSpMouseDev|12290	SFARI||Autism, 5 - Hypothesized but untested;OMIM|107269
Mural	PSME1	1.311741398	0.00011673	Ubiquitin proteasome system protein	BrainSpLMD|5720	OMIM|600654
Mural	CD81	0.792353492	0.000117761	Enzyme: Oxidase	BrainSpLMD|975;Eurexp|euxassay_012630|choroid plexus, mantle layer, stomach, ventral grey horn, ventricular layer	OMIM|186845;HPO|975|Anal atresia, Autoimmune thrombocytopenia, Autosomal recessive inheritance, Brachycephaly, Bronchiectasis, Chronic otitis media, Decreased antibody level in blood, Elevated hepatic transaminases, Hemolytic anemia, Immunodeficiency, Lymphadenopathy, Lymphopenia, Pneumonia, Purpura, Recurrent bacterial infections, Recurrent bronchitis, Recurrent respiratory infections, Splenomegaly
Mural	PLEKHH2	1.697501981	0.000119166	Cytoskeletal protein	BrainSpLMD|130271	OMIM|612723
Mural	PRDM1	0.991459918	0.000126375	Transcription factor	BrainSpLMD|639;Eurexp|euxassay_009010|hindgut, midgut, vibrissa	OMIM|603423;COSMIC||DLBCL
Mural	ASNA1	1.422358321	0.000126726	ATPase	BrainSpLMD|439;Eurexp|euxassay_005141|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lung, metanephros, molar, olfactory, retina, spinal cord, submandibular gland primordium, thoracic, thymus primordium, tongue, trachea, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|601913
Mural	CTNNB1	0.707081253	0.000127894	Adhesion molecule	BrainSpLMD|1499;BrainSpMouseDev|12172	SFARI||Autism, 3 - Suggestive evidence;OMIM|116806;COSMIC||colorectal, ovarian, hepatoblastoma, pleomorphic salivary gland adenoma, other tumour types;HPO|1499|Abdominal pain, Abnormal hypothalamus morphology, Abnormal visual field test, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Autosomal dominant inheritance, Autosomal recessive inheritance, Bitemporal hemianopia, Breast carcinoma, Central adrenal insufficiency, Central diabetes insipidus, Cerebral calcification, Desmoid tumors, Dysgerminoma, Elevated alpha-fetoprotein, Enlarged pituitary gland, Epigastric pain, Excessive daytime somnolence, Fatigue, Generalized hypotonia, Global developmental delay, Headache, Hepatic fibrosis, Hepatic necrosis, Hepatocellular carcinoma, Hepatomegaly, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hypogonadotrophic hypogonadism, Hypoplasia of the corpus callosum, Incomplete penetrance, Infantile onset, Intellectual disability, Intestinal polyposis, Intracranial cystic lesion, Long philtrum, Malabsorption, Medulloblastoma, Microcephaly, Micronodular cirrhosis, Myalgia, Nausea and vomiting, Neoplasm of the anterior pituitary, Neoplasm of the stomach, Neurological speech impairment, Obesity, Ovarian papillary adenocarcinoma, Papilledema, Pilomatrixoma, Pituitary hypothyroidism, Portal vein thrombosis, Progressive visual field defects, Prolactin excess, Renal cell carcinoma, Slow decrease in visual acuity, Somatic mutation, Spastic diplegia, Strabismus, Subacute progressive viral hepatitis, Subcutaneous nodule, Thin upper lip vermilion, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Vomiting
Mural	RPS7	1.091731265	0.000128551	Ribosomal subunit		OMIM|603658;HPO|6201|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Cleft palate, Delayed puberty, Fatigue, Hypertelorism, Macrocytic anemia, Migraine, Neutropenia, Pallor, Short nose, Short stature, Thick upper lip vermilion, Wide nasal bridge
Mural	GPRC5C	2.431185565	0.000129983	G protein coupled receptor	BrainSpLMD|55890	OMIM|605949
Mural	MYL12B	1.057783593	0.000133795	Cytoskeletal protein		OMIM|609211
Mural	KIRREL	1.304547618	0.000136382			
Mural	PIEZO2	2.495544211	0.000140578	Unclassified	BrainSpLMD|63895	OMIM|613629;HPO|63895|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the rib cage, Abnormality of the sternum, Absent palmar crease, Absent phalangeal crease, Agenesis of corpus callosum, Anteverted nares, Aplasia/Hypoplasia involving the skeletal musculature, Arachnodactyly, Areflexia, Arthrogryposis multiplex congenita, Astigmatism, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Bifid uvula, Bilateral talipes equinovarus, Blepharophimosis, Broad-based gait, Camptodactyly, Camptodactyly of finger, Camptodactyly of toe, Cerebellar hypoplasia, Cleft palate, Clinodactyly, Congenital contracture, Congenital finger flexion contractures, Congenital hip dislocation, Cryptorchidism, Cutaneous finger syndactyly, Dandy-Walker malformation, Decreased facial expression, Decreased hip abduction, Decreased muscle mass, Decreased palmar creases, Deeply set eye, Deviation of finger, Dextrocardia, Dimple chin, Distal arthrogryposis, Down-sloping shoulders, Duane anomaly, Dysarthria, Epicanthus, Facial asymmetry, Failure to thrive, Feeding difficulties, Firm muscles, Fixed facial expression, Generalized hypotonia, Global developmental delay, High palate, High, narrow palate, Hip dysplasia, Hypertelorism, Hypoplasia of the brainstem, Hypospadias, Inability to walk, Inferior vermis hypoplasia, Inguinal hernia, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Joint stiffness, Keratoconus, Keratoglobus, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Limited wrist extension, Long nose, Long philtrum, Low-set ears, Lumbar hyperlordosis, Macrotia, Mask-like facies, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Motor delay, Muscular dystrophy, Muscular hypotonia, Myopathic facies, Narrow mouth, Ophthalmoplegia, Optic atrophy, Overlapping toe, Pectus carinatum, Pectus excavatum, Pes planus, Poor head control, Posteriorly rotated ears, Postnatal growth retardation, Primitive reflex, Progressive, Protruding ear, Ptosis, Pulmonary hypoplasia, Pyloric stenosis, Radioulnar synostosis, Renal hypoplasia, Respiratory insufficiency, Restrictive ventilatory defect, Retrognathia, Scoliosis, Seizures, Sensory ataxia, Sensory axonal neuropathy, Severe short stature, Short neck, Short palpebral fissure, Short phalanx of finger, Short stature, Single transverse palmar crease, Skeletal muscle atrophy, Specific learning disability, Strabismus, Submucous cleft hard palate, Talipes, Talipes equinovarus, Thin upper lip vermilion, Thoracolumbar scoliosis, Triangular face, Ulnar deviation of the hand or of fingers of the hand, Visual impairment, Wide anterior fontanel, Wide nasal bridge, Zollinger-Ellison syndrome
Mural	TIMP2	1.938503387	0.000144575	Extracellular matrix protein	BrainSpLMD|7077	OMIM|188825
Mural	C3orf58	1.238977304	0.000147628	Unclassified	BrainSpLMD|205428	SFARI||Autism, 4 - Minimal evidence;OMIM|612200
Mural	NOP10	1.485302758	0.000148058	Ribonucleoprotein	BrainSpLMD|55505	OMIM|606471;HPO|55505|Abnormal blistering of the skin, Abnormality of coagulation, Abnormality of female internal genitalia, Abnormality of neutrophils, Abnormality of the fingernails, Abnormality of the pharynx, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic anemia, Aplastic/hypoplastic toenail, Autosomal recessive inheritance, Bone marrow hypocellularity, Carious teeth, Cellular immunodeficiency, Esophageal stenosis, Esophageal stricture, Global developmental delay, Hepatic fibrosis, Hyperhidrosis, Hypermelanotic macule, Hyperpigmentation of the skin, Hypodontia, Hypopigmented skin patches, Increased lacrimation, Intellectual disability, Intrauterine growth retardation, Malabsorption, Microcephaly, Microdontia, Nail dysplasia, Nail dystrophy, Nasolacrimal duct obstruction, Oral leukoplakia, Osteoporosis, Periodontitis, Phenotypic variability, Pterygium of nails, Pulmonary fibrosis, Recurrent fractures, Recurrent respiratory infections, Rough bone trabeculation, Short stature, Skin ulcer, Small nail, Sparse eyelashes, Sparse hair, Sparse scalp hair, Taurodontia, Telangiectasia of the skin, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis
Mural	CSRNP1	2.039796677	0.000149693	Unclassified	BrainSpLMD|64651	OMIM|606458
Mural	CRTAP	1.653392418	0.000152623	Unclassified	BrainSpLMD|10491	OMIM|605497;HPO|10491|Absent pulmonary artery, Autosomal recessive inheritance, Blue sclerae, Bowing of the legs, Breech presentation, Coxa vara, Crumpled long bones, Death in infancy, Decreased calvarial ossification, Delayed cranial suture closure, Externally rotated/abducted legs, Hydronephrosis, Hypoplastic pulmonary veins, Long philtrum, Micromelia, Multiple prenatal fractures, Multiple rib fractures, Narrow chest, Osteopenia, Pectus excavatum, Proptosis, Protrusio acetabuli, Recurrent fractures, Rhizomelia, Round face, Scoliosis, Vertebral compression fractures, Wide anterior fontanel, Wide cranial sutures, Wormian bones
Mural	DOCK5	1.715376547	0.000156424	Unclassified	BrainSpLMD|80005;Eurexp|euxassay_014244|cortex	OMIM|616904
Mural	PIK3CD	1.896379593	0.000160495	Lipid Kinase	BrainSpLMD|5293;Eurexp|euxassay_012716|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602839;HPO|5293|Autosomal dominant inheritance, Bronchiectasis, Cellulitis, Decreased antibody level in blood, Immunodeficiency, Lymphadenopathy, Recurrent ear infections, Recurrent sinopulmonary infections, Splenomegaly
Mural	TACC1	1.020787122	0.000162107	Cell cycle control protein	BrainSpLMD|6867	OMIM|605301
Mural	ZFHX3	0.579586523	0.000162263	DNA binding protein	BrainSpLMD|463;Eurexp|euxassay_016590|axial skeleton, cervical, cervico-thoracic, cornea, dorsal root ganglion, exoccipital bone, facial VII, glossopharyngeal IX, head mesenchyme, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, mesenchyme, metatarsus, neural retina, orbito-sphenoid, penis, thoracic, trigeminal V, turbinate, vagus X, vault of skull, ventral grey horn;BrainSpMouseDev|11693	OMIM|104155;COSMIC||endometrial, gastric, prostate
Mural	RBP1	1.168744152	0.000164046	Transport/cargo protein	BrainSpLMD|5947;Eurexp|euxassay_003315|brain, corpus striatum, forelimb, hindbrain, hindlimb, mantle layer, midgut, olfactory lobe, telencephalon, turbinate bones	OMIM|180260
Mural	PSMB8	1.177645255	0.000164851	Ubiquitin proteasome system protein	BrainSpLMD|5696;Eurexp|euxassay_013665|thymus primordium	OMIM|177046;HPO|5696|Abnormality of the Leydig cells, Adipose tissue loss, Arthralgia, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Basal ganglia calcification, Bone pain, Camptodactyly of finger, Cardiomegaly, Clubbing of fingers, Clubbing of toes, Congestive heart failure, Conjunctivitis, Elbow flexion contracture, Elevated erythrocyte sedimentation rate, Elevated hepatic transaminases, Episcleritis, Episodic fever, Erythema, Erythema nodosum, Failure to thrive, Finger swelling, Flexion contracture of toe, Hepatomegaly, Hyperhidrosis, Hyperostosis, Hyperpigmentation of the skin, Hypertriglyceridemia, Increased antibody level in blood, Intellectual disability, mild, Joint stiffness, Large eyes, Lipoatrophy, Lipodystrophy, Long fingers, Lymphadenopathy, Macroglossia, Macrotia, Microcytic anemia, Muscle weakness, Osteopenia, Panniculitis, Prominent nose, Skeletal muscle atrophy, Skin rash, Splenomegaly, Subcutaneous nodule, Thick lower lip vermilion
Mural	COQ10B	1.56461539	0.000165567	Unclassified	BrainSpLMD|80219	
Mural	MT.RNR1	1.117719873	0.000165872			
Mural	SP100	2.016436032	0.000171778	Transcription regulatory protein	BrainSpLMD|6672	OMIM|604585
Mural	PARVA	1.73205869	0.000175747	Cytoskeletal associated protein	BrainSpLMD|55742	OMIM|608120
Mural	ZIC4	2.124319653	0.000177798	DNA binding protein	BrainSpLMD|84107;BrainSpMouseDev|22531	OMIM|608948
Mural	ASAP2	1.999998415	0.000178434	GTPase activating protein	BrainSpLMD|8853	OMIM|603817
Mural	NR2F2.AS1	1.822226598	0.00018358			
Mural	PPP1R12A	0.89498573	0.000184022	Regulatory/other subunit	BrainSpLMD|4659	OMIM|602021
Mural	NINJ1	1.455569159	0.00018623	Adhesion molecule	BrainSpLMD|4814;Eurexp|euxassay_009199|cardiovascular system, cavities and their linings, central nervous system, gland, integumental system, limb, marginal layer, meninges, mesenchyme, organ system, peripheral nervous system, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|602062
Mural	PCOLCE	1.879501185	0.000187774	Extracellular matrix protein	BrainSpLMD|5118	OMIM|600270
Mural	SEPT7P6	0.606550877	0.000191743			
Mural	SSFA2	0.721158102	0.000192251	Unclassified	BrainSpLMD|6744	OMIM|118990
Mural	LATS2	2.202203463	0.000192342	Serine/threonine kinase	BrainSpLMD|26524	OMIM|604861
Mural	LMO2	2.905815741	0.000193394	Transcription factor	BrainSpLMD|4005;Eurexp|euxassay_002567|lobe, neural retina, stroma;BrainSpMouseDev|16679	OMIM|180385;COSMIC||T-ALL
Mural	FARP1	1.17727396	0.000210699	Guanine nucleotide exchange factor	BrainSpLMD|10160	OMIM|602654
Mural	NDUFB2	1.071458988	0.000219255	Enzyme: Oxidoreductase	BrainSpLMD|4708;Eurexp|euxassay_008721|basisphenoid bone, exoccipital bone, petrous part, rib	OMIM|603838
Mural	TAF13	0.704248831	0.000221588	Transcription factor	BrainSpLMD|6884;Eurexp|euxassay_001598|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, submandibular gland primordium, trigeminal V, vagus X;BrainSpMouseDev|63900	OMIM|600774;HPO|6884|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Delayed puberty, Delayed skeletal maturation, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Small for gestational age, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vesicoureteral reflux
Mural	CALR	1.102245045	0.000226279	Chaperone	BrainSpLMD|811	OMIM|109091;COSMIC||MPN, MDS;HPO|811|Abnormal platelet morphology, Abnormality of the skeletal system, Acrocyanosis, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Chest pain, Hypertension, Impaired platelet aggregation, Increased megakaryocyte count, Myelofibrosis, Myeloproliferative disorder, Myocardial infarction, Paresthesia, Prolonged bleeding time, Somatic mutation, Splenomegaly, Thrombocytosis, Transient ischemic attack, Venous thrombosis
Mural	DDIT3	1.378079817	0.000231561	Transcription factor	BrainSpLMD|1649;Eurexp|euxassay_009824|olfactory;BrainSpMouseDev|12978	OMIM|126337;COSMIC||liposarcoma;HPO|1649|Myxoid liposarcoma, Somatic mutation, Subcutaneous nodule
Mural	TANC1	0.889172547	0.000236201	Unclassified	Eurexp|euxassay_012462|mandible, maxilla, metanephros, ventricular layer	OMIM|611397
Mural	FYCO1	2.245860756	0.000238288	Unclassified	BrainSpLMD|79443	OMIM|607182;HPO|79443|Autosomal recessive inheritance, Cataract
Mural	ARHGEF7	0.870539296	0.000246713	Guanine nucleotide exchange factor	BrainSpLMD|8874	OMIM|605477
Mural	KLHDC8B	2.079328169	0.000250754	Cytoskeletal associated protein	BrainSpLMD|200942	OMIM|613169
Mural	NR4A1	1.464712456	0.000268314	Nuclear receptor	BrainSpLMD|3164;Eurexp|euxassay_007083|adrenal gland, clavicle, mandible, peripheral nervous system, submandibular gland primordium, testis, vibrissa;BrainSpMouseDev|15145	OMIM|139139
Mural	RHOA	0.970849926	0.000274021	GTPase	BrainSpLMD|387;BrainSpMouseDev|11635	OMIM|165390;COSMIC||diffuse gastric, T cell lymphomas, paediatric Burkitt lymphoma
Mural	POMP	1.156900475	0.000275212	Unclassified	BrainSpLMD|51371;Eurexp|euxassay_002063|thymus primordium	OMIM|613386;HPO|51371|Amniotic constriction ring, Autosomal recessive inheritance, Congenital nonbullous ichthyosiform erythroderma, Honeycomb palmoplantar keratoderma, Hyperconvex nail, Ichthyosis, Linear arrays of macular hyperkeratoses in flexural areas, Nail dystrophy, Palmoplantar keratoderma, Parakeratosis
Mural	NDUFAF3	2.222409516	0.000279191	Unclassified	BrainSpLMD|25915;Eurexp|euxassay_006731|olfactory	OMIM|612911;HPO|25915|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
Mural	SLC38A2	0.888273532	0.000279222	Transport/cargo protein	BrainSpLMD|54407;Eurexp|euxassay_019685|adrenal gland, clavicle, incisor, lung, meninges, metanephros, molar, neural retina, phalanx, submandibular gland primordium, turbinate bones, vibrissa	OMIM|605180
Mural	FMNL3	2.027011107	0.000279972	Unclassified	BrainSpLMD|91010	OMIM|616288
Mural	KDELR1	0.87629432	0.000279993	Unclassified	BrainSpLMD|10945	OMIM|131235
Mural	RPL21P120	0.675978749	0.000280324			
Mural	RHBDL2	2.096909082	0.00029276	Serine protease	BrainSpLMD|54933;Eurexp|euxassay_010755|clavicle, femur, fibula, mandible, maxilla, orbito-sphenoid, rib, tibia	OMIM|608962
Mural	RPL41	0.784735604	0.000295657	Unclassified	BrainSpLMD|6171	OMIM|613315
Mural	KLF4	1.898762227	0.000306223	Transcription regulatory protein	BrainSpLMD|9314;Eurexp|euxassay_005264|arm, bladder, clavicle, cranium, extraembryonic component, femur, fibula, footplate, forelimb, handplate, hindlimb, lower leg, mandible, maxilla, molar, oesophagus, orbito-sphenoid, palatal shelf, penis, rest of mesenchyme, rib, tibia, vertebral axis muscle system, vibrissa;BrainSpMouseDev|16373	OMIM|602253;COSMIC||meningioma
Mural	POLR2L	0.947733318	0.000319196	RNA polymerase	BrainSpLMD|5441;Eurexp|euxassay_019574|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, liver, lung, midgut, nucleus pulposus, oesophagus, pancreas, stomach, submandibular gland primordium, testis, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|601189
Mural	PPFIBP2	2.402539908	0.000323254	Anchor protein	BrainSpLMD|8495;Eurexp|euxassay_007827|4th ventricle, choroid plexus, clavicle, epithelium, femur, fibula, fundus region, humerus, mandible, maxilla, orbito-sphenoid, palatal shelf, radius, rib, tibia	OMIM|603142
Mural	NDUFB3	1.004209076	0.000325546	Enzyme: Oxidoreductase	BrainSpLMD|4709	OMIM|603839;HPO|4709|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
Mural	2-Sep	0.999404394	0.000328154			
Mural	EOGT	2.644246556	0.000328707	Enzyme: Glycosyltransferase	BrainSpLMD|285203;Eurexp|euxassay_007775|aorta, embryo, left lung, mantle layer, meninges, right lung	OMIM|614789;HPO|285203|Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aplasia cutis congenita, Autosomal recessive inheritance, Brachydactyly, Calvarial skull defect, Cataract, Cutis marmorata, Failure to thrive, Finger syndactyly, Hydrocephalus, Hypoplastic toenails, Microphthalmia, Phenotypic variability, Pulmonary artery atresia, Short distal phalanx of finger, Sparse hair, Split hand, Strabismus, Talipes, Tetralogy of Fallot, Toenail dysplasia
Mural	DECR1	1.571727757	0.000331528	Enzyme: Reductase	BrainSpLMD|1666	OMIM|222745
Mural	SERINC5	0.530970097	0.000340111	Unclassified	BrainSpLMD|256987;Eurexp|euxassay_011506|anterior, clavicle, floor plate, floorplate, incisor, mantle layer, marginal layer, molar, phalanx, thyroid, ventricular layer, vibrissa	OMIM|614551
Mural	OST4	0.692980396	0.000357278	-	Eurexp|euxassay_002153|Meckel's cartilage, orbito-sphenoid	
Mural	KLF2	1.71843628	0.000359792	Transcription factor	BrainSpLMD|10365;Eurexp|euxassay_019501|Meckel's cartilage, axial skeleton, clavicle, endocardial tissue, incisor, mandible, maxilla, mesenchyme, metatarsus, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, rib, turbinate, valve;BrainSpMouseDev|16371	OMIM|602016
Mural	CALCRL	2.612647981	0.000371625	G protein coupled receptor	BrainSpLMD|10203	OMIM|114190
Mural	AP2S1	1.679513023	0.000371692	Adapter molecule	BrainSpLMD|1175	OMIM|602242;HPO|1175|Autosomal dominant inheritance, Bone pain, Chondrocalcinosis, Hypercalcemia, Hypermagnesemia, Hypocalciuria, Hypophosphatemia, Multiple lipomas, Osteomalacia, Pancreatitis, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyperparathyroidism
Mural	EFEMP2	2.733847326	0.000387685	Extracellular matrix protein	BrainSpLMD|30008	OMIM|604633;HPO|30008|Abnormality of the pinna, Aortic aneurysm, Aortic dilatation, Arachnodactyly, Arterial fibromuscular dysplasia, Arterial stenosis, Arterial tortuosity, Atelectasis, Autosomal recessive inheritance, Bladder diverticulum, Bulbous nose, Congenital diaphragmatic hernia, Cutis laxa, Delayed cranial suture closure, Downslanted palpebral fissures, Emphysema, Full cheeks, Generalized arterial tortuosity, Generalized hypotonia, High palate, Hypertelorism, Ileus, Inguinal hernia, Joint hyperflexibility, Joint hypermobility, Low-set ears, Microcephaly, Micrognathia, Narrow palpebral fissure, Pectus excavatum, Premature skin wrinkling, Prominence of the premaxilla, Prominent forehead, Proptosis, Ptosis, Pulmonary artery aneurysm, Pulmonary artery dilatation, Pulmonary insufficiency, Recurrent urinary tract infections, Redundant skin, Renal diverticulum, Soft skin
Mural	ATP1B3	1.260711417	0.00038994	ATPase	BrainSpLMD|483	OMIM|601867
Mural	DPPA4	1.305201956	0.000403206	Unclassified	BrainSpLMD|55211;Eurexp|euxassay_006817|olfactory, ovary, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vomeronasal organ	OMIM|614125
Mural	SCN4B	1.433145424	0.000414595	Voltage gated channel	BrainSpLMD|6330;BrainSpMouseDev|124782	OMIM|608256;HPO|6330|Atrioventricular block, Autosomal dominant inheritance, Prolonged QT interval, Sudden cardiac death, T-wave alternans
Mural	CADM4	1.790389834	0.000415641	Unclassified	BrainSpLMD|199731	OMIM|609744
Mural	TSPAN7	1.215885428	0.000416352	Cell surface receptor	BrainSpLMD|7102;Eurexp|euxassay_015336|bladder, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, pancreas, thoracic, trigeminal V, vagus X, ventricular layer, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|300096;HPO|7102|Intellectual disability, Intellectual disability, mild, X-linked recessive inheritance
Mural	TMEM173	1.964678357	0.000426751	Unclassified	BrainSpLMD|340061	OMIM|612374;HPO|340061|Anemia, Autosomal dominant inheritance, Cutis marmorata, Elevated erythrocyte sedimentation rate, Erythema, Failure to thrive, Fever, Follicular hyperplasia, Growth delay, Increased antibody level in blood, Interstitial pulmonary abnormality, Leukopenia, Malar rash, Nail dystrophy, Neonatal onset, Pustule, Recurrent respiratory infections, Telangiectasia, Thrombocytosis, Variable expressivity
Mural	CRIP2	0.998953241	0.000428906	Adapter molecule	BrainSpLMD|1397;Eurexp|euxassay_002192|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X, ventricle	OMIM|601183
Mural	UBB	0.654906537	0.000430715	Ubiquitin proteasome system protein	BrainSpLMD|7314	OMIM|191339;HPO|7314|Anterior open-bite malocclusion, Autosomal dominant inheritance, Cleft palate, Gingival overgrowth, Intellectual disability, profound, Micrognathia, Overbite, Seizures
Mural	PAWR	1.75879934	0.000432704	Transcription regulatory protein	BrainSpLMD|5074;Eurexp|euxassay_014184|bladder, floor plate, floorplate, left lung, neural retina, olfactory, right lung, submandibular gland primordium, urethra, ventricular layer;BrainSpMouseDev|77498	OMIM|601936
Mural	CACNB2	1.113677387	0.00043924	Voltage gated channel	BrainSpLMD|783;Eurexp|euxassay_008283|epithalamus, marginal layer, ventricular layer	SFARI||Autism, 3 - Suggestive evidence;OMIM|600003;HPO|783|Atrial fibrillation, Autosomal dominant inheritance, Shortened QT interval, Syncope
Mural	IFI6	0.736269107	0.000439266	Unclassified	BrainSpLMD|2537	OMIM|147572
Mural	TMEM18	1.369451746	0.000441786	Integral membrane protein	BrainSpLMD|129787;Eurexp|euxassay_003177|lower jaw, submandibular gland primordium	OMIM|613220
Mural	MAGED2	1.099641231	0.000463665	Unclassified	BrainSpLMD|10916	OMIM|300470;HPO|10916|Fetal polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Hyponatremia, Increased circulating renin level, Medullary nephrocalcinosis, Polyhydramnios, Polyuria, Premature birth, X-linked recessive inheritance
Mural	RBM6	0.415745	0.000473124	RNA binding protein	BrainSpLMD|10180	OMIM|606886
Mural	SULT1C4	1.601060915	0.000474041	Enzyme: Sulphotransferase	BrainSpLMD|27233	OMIM|608357
Mural	TAPBP	1.652528601	0.000479104	Chaperone	BrainSpLMD|6892;Eurexp|euxassay_009813|dorsal root ganglion, facial VII, glossopharyngeal IX, thymus primordium, trigeminal V, ventral grey horn	OMIM|601962;HPO|6892|Autosomal recessive inheritance, Bronchiectasis, Bronchiolitis, Chronic otitis media, Chronic sinusitis, Ectopia lentis, Emphysema, Nasal polyposis, Recurrent bronchitis, Skin ulcer
Mural	TRIM5	1.848522893	0.000510173	Ubiquitin proteasome system protein	BrainSpLMD|85363	OMIM|608487
Mural	KTN1	1.033489217	0.000522976	Anchor protein	BrainSpLMD|3895	OMIM|600381;COSMIC||papillary thyroid
Mural	RAB3D	0.728526257	0.000525087	GTPase	BrainSpLMD|9545;Eurexp|euxassay_004414|cerebral cortex, dorsal root ganglion, epidermis, facial VII, glossopharyngeal IX, mantle layer, trigeminal V	OMIM|604350
Mural	DR1	1.35816412	0.00052755	Transcription regulatory protein	BrainSpLMD|1810	OMIM|601482
Mural	STARD9	0.59833747	0.000529309	Unclassified		OMIM|614642
Mural	SVIL	0.858896644	0.000535347	Cytoskeletal associated protein	BrainSpLMD|6840;Eurexp|euxassay_011675|epidermis, exoccipital bone, meninges, midgut, pharyngo-tympanic tube, skeletal muscle, stomach, vibrissa	OMIM|604126
Mural	ESYT2	0.458237029	0.000538207	Unclassified	BrainSpLMD|57488	OMIM|616691
Mural	ANXA11	2.144288704	0.00055741	Calcium binding protein	BrainSpLMD|311;Eurexp|euxassay_018010|calyces, foregut-midgut junction, hindgut, loop, midgut, oesophagus, olfactory, rectum, testis;BrainSpMouseDev|11531	OMIM|602572
Mural	MAP3K1	0.718693635	0.0005668	Serine/threonine kinase	Eurexp|euxassay_011095|calyces, incisor, larynx, mantle layer, molar, naris, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, renal/urinary system, sublingual gland primordium, submandibular gland primordium, thyroid, vibrissa	OMIM|600982;COSMIC||luminal A breast, 46, XY sex reversal 6;HPO|4214|Abnormal sex determination, Abnormality of the labia, Abnormality of the scrotum, Ambiguous genitalia, Autosomal dominant inheritance, Azoospermia, Chordee, Clitoral hypertrophy, Cryptorchidism, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Dysgerminoma, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,XY karyotype, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hypergonadotropic hypogonadism, Hypogonadotrophic hypogonadism, Hypoplasia of the vagina, Hypospadias, Male infertility, Male pseudohermaphroditism, Micropenis, Osteoporosis, Polycystic ovaries, Primary amenorrhea, Sex reversal, Sparse axillary hair, Sparse pubic hair, Streak ovary, Testicular dysgenesis, Urogenital sinus anomaly, Vanishing testis
Mural	SESN3	1.651499195	0.000566823	Cell cycle control protein	BrainSpLMD|143686	OMIM|607768
Mural	LBH	0.930379934	0.000571827	Transcription regulatory protein	BrainSpLMD|81606;BrainSpMouseDev|53729	OMIM|611763
Mural	AAED1	1.264547082	0.000577135	Unclassified		
Mural	MT.CO3	0.312591689	0.000582276			
Mural	CAP1	1.357892161	0.000598103	Unclassified	BrainSpLMD|10487	
Mural	MANF	1.425213402	0.000600662	Unclassified	BrainSpLMD|7873	OMIM|601916
Mural	PROS1	0.902976795	0.000605927	Coagulation factor	BrainSpLMD|5627;Eurexp|euxassay_009526|frenulum, incisor, liver, molar;BrainSpMouseDev|18891	OMIM|176880;HPO|5627|Arterial thrombosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cerebral hemorrhage, Cerebral venous thrombosis, Deep venous thrombosis, Disseminated intravascular coagulation, Hypercoagulability, Pulmonary embolism, Purpura, Reduced protein S activity, Retinopathy, Superficial thrombophlebitis, Thin skin, Thrombophlebitis, Warfarin-induced skin necrosis
Mural	PDLIM1	1.817906957	0.0006182	Unclassified	BrainSpLMD|9124;Eurexp|euxassay_000772|embryo, epithelium, laryngeal, oesophagus, olfactory, oral epithelium, pharyngo-tympanic tube, pharynx, thymus primordium, urethra;BrainSpMouseDev|33425	OMIM|605900
Mural	TMSB4XP1	0.817233001	0.000620054	-	BrainSpLMD|7115	
Mural	TPM2	2.154820231	0.000623035	Cytoskeletal protein	BrainSpLMD|7169	OMIM|190990;HPO|7169|Abnormality of the ear, Abnormality of the hip bone, Absent phalangeal crease, Adducted thumb, Aplasia/Hypoplasia of the radius, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bulbar palsy, Calcaneovalgus deformity, Camptodactyly, Camptodactyly of finger, Centrally nucleated skeletal muscle fibers, Childhood onset, Congenital onset, Decreased fetal movement, Difficulty walking, Dilated cardiomyopathy, Distal arthrogryposis, Downslanted palpebral fissures, Dysphagia, Elbow flexion contracture, Facial diplegia, Facial palsy, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Generalized muscle weakness, Gowers sign, Heterogeneous, High palate, Hyporeflexia, Joint stiffness, Kyphoscoliosis, Limb muscle weakness, Long face, Long philtrum, Lumbar hyperlordosis, Mandibular prognathia, Metatarsus adductus, Micrognathia, Motor delay, Muscular hypotonia, Myopathic facies, Myopathy, Narrow face, Narrow mouth, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Overlapping fingers, Pectus excavatum, Prominent nasolabial fold, Protruding ear, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Reduced tendon reflexes, Reduced vital capacity, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Rocker bottom foot, Round ear, Scapular winging, Scoliosis, Short neck, Short stature, Skeletal muscle atrophy, Talipes, Talipes equinovarus, Tarsal synostosis, Triangular face, Type 1 fibers relatively smaller than type 2 fibers, Type 1 muscle fiber predominance, Ulnar deviation of finger, Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the wrist, Variable expressivity, Vertebral segmentation defect, Waddling gait, Weak cry, Webbed neck, Wide nasal bridge
Mural	ASAH1	1.220970197	0.000640513	Enzyme: Hydrolase	BrainSpLMD|427;Eurexp|euxassay_004481|lung	OMIM|613468;HPO|427|Areflexia, Arthralgia, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Cherry red spot of the macula, Decreased muscle mass, Degeneration of anterior horn cells, Dementia, Difficulty walking, EEG abnormality, EMG abnormality, Facial palsy, Failure to thrive, Frequent falls, Gait disturbance, Generalized myoclonic seizures, Gowers sign, Hepatomegaly, Hoarse cry, Intellectual disability, Irritability, Joint stiffness, Joint swelling, Juvenile onset, Kyphosis, Laryngomalacia, Lipogranulomatosis, Motor delay, Myoclonus, Neurological speech impairment, Nystagmus, Oral-pharyngeal dysphagia, Osteoporosis, Periarticular subcutaneous nodules, Progressive, Progressive distal muscular atrophy, Recurrent respiratory infections, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scoliosis, Short stature, Spinal muscular atrophy, Splenomegaly, Tongue fasciculations, Tremor, Variable expressivity
Mural	ETV6	1.235482599	0.000642173	Transcription factor	BrainSpLMD|2120;Eurexp|euxassay_012303|incisor, molar, olfactory, parotid, submandibular gland primordium, thymus primordium, thyroid;BrainSpMouseDev|13788	OMIM|600618;COSMIC||congenital fibrosarcoma, multiple different leukaemia and lymphoma tumour types including ALL, secretory breast, MDS;HPO|2120|Autosomal dominant inheritance, Bruising susceptibility, Epistaxis, Petechiae, Thrombocytopenia
Mural	JMJD1C	0.602004526	0.000655579	Transcription regulatory protein	BrainSpLMD|221037;Eurexp|euxassay_008985|mantle layer, ventricular layer;BrainSpMouseDev|72988	SFARI||Autism, 4 - Minimal evidence;OMIM|604503;HPO|221037|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
Mural	ASPN	1.042178383	0.000660755	Extracellular matrix protein	BrainSpLMD|54829	OMIM|608135
Mural	PHLDA1	1.237465831	0.000666741	Transcription factor	BrainSpLMD|22822;Eurexp|euxassay_008411|anterior, axial skeleton, bladder, cartilaginous ring, cornea, diaphragm, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, hepatic duct, hindgut, incisor, inner ear, left lung, liver, mantle layer, medulla, meninges, metanephros, midgut, molar, naso-lacrimal duct, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, right lung, skeletal muscle, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, tongue, trigeminal V, ureter, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|605335
Mural	ADD3	1.540522148	0.000678613	Cytoskeletal associated protein	BrainSpLMD|120;Eurexp|euxassay_002919|chondrocranium, epithelium, glandular mucous membrane, lumen, mantle layer, pancreas, ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|601568;HPO|120|Abnormal pyramidal signs, Autosomal recessive inheritance, Cognitive impairment, Dysphagia, Exotropia, Global developmental delay, Infantile onset, Microcephaly, Nystagmus, Poor speech, Spastic diplegia, Spastic tetraplegia, Supranuclear gaze palsy, Variable expressivity
Mural	KIAA0907	0.266855773	0.000700702			
Mural	GMDS	1.433003262	0.000704801	Enzyme: Dehydratase	BrainSpLMD|2762;Eurexp|euxassay_003883|Meckel's cartilage, clavicle, hindgut, midgut, rectum, rib, stomach, submandibular gland primordium, trachea, turbinate bones	OMIM|602884
Mural	PARP8	1.619641015	0.000709991	Unclassified	BrainSpLMD|79668;Eurexp|euxassay_003449|adenohypophysis, bladder, central nervous system, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, heart, hindlimb, incisor, intervertebral disc, limb, liver, lung, metanephros, midgut, molar, neural retina, oesophagus, olfactory, penis, respiratory, stomach, stroma, thymus primordium, tongue, trachea, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, visceral organ	
Mural	SIDT2	2.053386286	0.000713113	Unclassified	BrainSpLMD|51092;Eurexp|euxassay_002887|submandibular gland primordium, vibrissa	OMIM|617551
Mural	SNORD113.3	2.14265683	0.000717781			
Mural	LIMA1	1.084206363	0.000726678	Cytoskeletal protein	BrainSpLMD|51474	OMIM|608364
Mural	DAG1	2.143743581	0.000728484	Adhesion molecule	BrainSpLMD|1605	OMIM|128239;HPO|1605|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Absent septum pellucidum, Absent speech, Agenesis of corpus callosum, Ankle contracture, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Autosomal recessive inheritance, Buphthalmos, Cataract, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral calcification, Chorioretinal dysplasia, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Delayed speech and language development, Elevated serum creatine phosphokinase, Generalized hypotonia, Glaucoma, Global developmental delay, Gowers sign, Hydrocephalus, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hyporeflexia, Infantile onset, Intellectual disability, Leukodystrophy, Limb-girdle muscle weakness, Lissencephaly, Lumbar hyperlordosis, Macrocephaly, Macrogyria, Metatarsus valgus, Microphthalmia, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Myopia, Optic atrophy, Pachygyria, Polymicrogyria, Poor head control, Respiratory failure, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Skeletal muscle atrophy, Specific learning disability, Variable expressivity, Ventriculomegaly
Mural	CAPZA1	0.650780475	0.000744177	Structural protein	BrainSpLMD|829;Eurexp|euxassay_000273|head mesenchyme, lung	OMIM|601580
Mural	DDX6	0.280045829	0.000780485	RNA binding protein	BrainSpLMD|1656	OMIM|600326;COSMIC||B-NHL
Mural	ATP5G3	0.796884089	0.000792436			
Mural	LIN7A	1.152532917	0.0007964	Adapter molecule	BrainSpLMD|8825;Eurexp|euxassay_011082|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lung, mantle layer, neural retina, penis, pharyngo-tympanic tube, thoracic, trigeminal V, vagus X, ventral grey horn	OMIM|603380
Mural	CEBPD	1.494530263	0.00081964	Transcription factor	BrainSpLMD|1052;BrainSpMouseDev|12394	OMIM|116898
Mural	PXDN	1.194181487	0.000834078	Enzyme: Peroxidase		SFARI||Autism, No category;OMIM|605158;HPO|7837|Abnormality of the outer ear, Autosomal recessive inheritance, Sclerocornea
Mural	ACTN4	1.257688388	0.000843735	Cytoskeletal protein	BrainSpLMD|81	SFARI||Autism, No category;OMIM|604638;HPO|81|Anemia, Autosomal dominant inheritance, Edema, Focal segmental glomerulosclerosis, Hyperlipidemia, Hypertension, Hypoalbuminemia, Incomplete penetrance, Proteinuria, Slow progression, Variable expressivity
Mural	CNP	0.591948703	0.000843983	Enzyme: Phosphodiesterase	BrainSpLMD|1267;BrainSpMouseDev|12582	OMIM|123830
Mural	MRPL36	0.909816103	0.000849077	Ribosomal subunit		OMIM|611842
Mural	PSMD1	0.609360121	0.00085581	Ubiquitin proteasome system protein	BrainSpLMD|5707;Eurexp|euxassay_016545|dorsal root ganglion, lung, mantle layer, olfactory, thymus primordium, ventral grey horn	
Mural	DCTD	2.070266718	0.00088622	Enzyme: Deaminase	BrainSpLMD|1635;Eurexp|euxassay_003473|lung, metanephros, midgut, olfactory, orbito-sphenoid, pancreas, respiratory, submandibular gland primordium, thymus primordium, vibrissa	OMIM|607638
Mural	LHPP	1.92381696	0.000889007	Unclassified	BrainSpLMD|64077	OMIM|617231
Mural	COLGALT1	1.234876962	0.000894251	Unclassified	BrainSpLMD|79709	OMIM|617531
Mural	UBC	0.26257795	0.00090817	Ubiquitin proteasome system protein	BrainSpLMD|7316	OMIM|191340
Mural	MYO1C	0.55345641	0.000911152	Motor protein	BrainSpLMD|4641	OMIM|606538
Mural	ZNF37A	0.874758667	0.000919648	DNA binding protein	BrainSpLMD|7587	OMIM|616085
Mural	SYDE1	1.557341658	0.000921596	GTPase activating protein	BrainSpLMD|85360	OMIM|617377
Mural	OXR1	1.401314788	0.000939252	Unclassified	BrainSpLMD|55074	OMIM|605609
Mural	TECRP1	1.061305575	0.000975542			
Mural	RORA	1.083644037	0.001003894	Nuclear receptor	BrainSpLMD|6095;Eurexp|euxassay_018175|anterior, dorsal grey horn, external, mantle layer, medulla, thymus primordium, vibrissa;BrainSpMouseDev|19646	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600825
Mural	PFDN5	0.518090246	0.001019958	Chaperone	BrainSpLMD|5204	OMIM|604899
Mural	BAG3	1.49608568	0.001027015	Adapter molecule	BrainSpLMD|9531	OMIM|603883;HPO|9531|Autosomal dominant inheritance, Axonal loss, Congestive heart failure, Demyelinating peripheral neuropathy, Diaphragmatic paralysis, Dilated cardiomyopathy, Distal sensory impairment, EMG: myopathic abnormalities, Easy fatigability, Elevated serum creatine phosphokinase, Facial palsy, Generalized amyotrophy, Hypertrophic cardiomyopathy, Hyporeflexia, Knee flexion contracture, Muscular dystrophy, Myofibrillar myopathy, Nasal speech, Pes cavus, Rapidly progressive, Respiratory insufficiency, Scoliosis, Spinal rigidity
Mural	RPS14	0.254632166	0.001038789	Ribosomal subunit	BrainSpLMD|6208	OMIM|130620;HPO|6208|Abnormality of cells of the megakaryocyte lineage, Autosomal dominant contiguous gene syndrome, Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Somatic mutation, Sporadic
Mural	CTSL	0.537399196	0.00104193	Cysteine protease	BrainSpLMD|1514	OMIM|116880
Mural	CHP1	0.826191265	0.001070482		BrainSpLMD|11261	OMIM|606988
Mural	LPHN2	0.844978412	0.001081068			
Mural	RP11.1018J11.1	0.531284333	0.001093177			
Mural	SNHG23	1.242257852	0.001093711			
Mural	MRPL33	0.813901355	0.001103653	Ribosomal subunit	BrainSpLMD|9553	OMIM|610059
Mural	TLCD2	1.893444887	0.001116982			
Mural	STT3B	0.926595776	0.001128757	Integral membrane protein	BrainSpLMD|201595	OMIM|608605;HPO|201595|Abnormal glycosylation, Autosomal recessive inheritance, Cerebellar atrophy, Congenital onset, Cryptorchidism, Death in childhood, Decreased liver function, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Microcephaly, Micropenis, Optic atrophy, Respiratory distress, Scrotal hypoplasia, Seizures, Thrombocytopenia
Mural	HNMT	1.109766633	0.001133382	Enzyme: Methyltransferase	BrainSpLMD|3176	OMIM|605238;HPO|3176|Autosomal recessive inheritance, Delayed speech and language development, Global developmental delay, Infantile onset, Intellectual disability, Intellectual disability, severe, Microcephaly
Mural	COX7B	0.653578849	0.001148637	Enzyme: Oxidase	BrainSpLMD|1349	OMIM|300885;HPO|1349|Abnormal facial shape, Abnormality of retinal pigmentation, Abnormality of the cardiac septa, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Anophthalmia, Aplasia cutis congenita, Arrhythmia, Congenital diaphragmatic hernia, Dermal atrophy, Dilated cardiomyopathy, Erythema, Global developmental delay, Hyperpigmentation of the skin, Hypertelorism, Hypertrophic cardiomyopathy, Hypopigmented skin patches, Mandibular aplasia, Microcephaly, Micrognathia, Microphthalmia, Midface retrusion, Retrognathia, Sclerocornea, Severe short stature, Short chin, Short stature, Vitritis, Wide nasal bridge, Wide nose, X-linked dominant inheritance
Mural	VAPA	0.278362632	0.001148751	Membrane transport protein	BrainSpLMD|9218	OMIM|605703
Mural	GLS	1.170870306	0.001150709	Enzyme: Deaminase	BrainSpLMD|2744;BrainSpMouseDev|14436	OMIM|138280
Mural	SERTAD1	1.811114172	0.001169072	Cell cycle control protein	BrainSpLMD|29950	
Mural	CHRAC1	0.692419661	0.001188439	DNA binding protein	BrainSpLMD|54108	OMIM|607268
Mural	SLC1A3	0.460970174	0.001191108	Transport/cargo protein	BrainSpLMD|6507;Eurexp|euxassay_001899|mantle layer, thymus primordium, tongue, ventral grey horn, ventricular layer;BrainSpMouseDev|20274	OMIM|600111;HPO|6507|Autosomal dominant inheritance, Cerebellar hypoplasia, Diplopia, Dysarthria, Episodic ataxia, Generalized hypotonia, Hemiparesis, Hemiplegia, Migraine, Motor delay, Nausea, Phonophobia, Photophobia, Seizures, Slurred speech, Truncal ataxia, Vertigo, Vomiting
Mural	CDC42BPA	0.647018184	0.001191125	Serine/threonine kinase	BrainSpLMD|8476	OMIM|603412
Mural	RPL23	0.506046	0.001196777	Ribosomal subunit	BrainSpLMD|9349	OMIM|603662
Mural	DOCK1	1.57562701	0.001204864	Guanine nucleotide exchange factor	BrainSpLMD|1793	SFARI||Autism, 4 - Minimal evidence;OMIM|601403
Mural	SLC2A14	1.857891788	0.001210037	Transport/cargo protein	BrainSpLMD|144195	OMIM|611039
Mural	TECR	0.893753407	0.001237007	Enzyme: Reductase	BrainSpLMD|9524;Eurexp|euxassay_004555|cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, marginal layer, neural retina, nucleus pulposus, rib, right lung, stroma, submandibular gland primordium, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610057;HPO|9524|Autosomal recessive inheritance, Delayed speech and language development, Intellectual disability, Narrow palate
Mural	SELK	0.620466536	0.001285383			
Mural	ETS2	1.461126979	0.001309224	Transcription factor	BrainSpLMD|2114;Eurexp|euxassay_011879|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, nasal septum, orbito-sphenoid, otic capsule, petrous part, rib, scapula, tibia, turbinate, vault of skull;BrainSpMouseDev|23625	OMIM|164740
Mural	FCGRT	0.904249834	0.001313045	Cell surface receptor	BrainSpLMD|2217;Eurexp|euxassay_011956|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones	OMIM|601437
Mural	LRIG1	1.295793457	0.001333069	Cell surface receptor	BrainSpLMD|26018	OMIM|608868
Mural	NDUFA11	0.855679152	0.001368733	Enzyme: Oxidoreductase	BrainSpLMD|126328	OMIM|612638;HPO|126328|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
Mural	ELOVL1	2.52052933	0.001382717	Unclassified	BrainSpLMD|64834	OMIM|611813
Mural	HSPA5	1.498950174	0.00139124	Chaperone	BrainSpLMD|3309	OMIM|138120
Mural	MAFF	0.717492042	0.001394024	Transcription factor	BrainSpLMD|23764	OMIM|604877
Mural	FUT11	1.174924287	0.001414829	Enzyme: Fucosyltransferase		OMIM|616932
Mural	RP11.274E7.2	0.779586887	0.001418325			
Mural	SGCE	1.577744979	0.001463611	Extracellular matrix protein	BrainSpLMD|8910	OMIM|604149;HPO|8910|Agoraphobia, Anxiety, Autosomal dominant inheritance, Depressivity, Incomplete penetrance, Juvenile onset, Myoclonus, Obsessive-compulsive behavior, Torticollis, Tremor, Writer's cramp
Mural	JAK1	0.554337281	0.001475973	Tyrosine kinase	BrainSpLMD|3716;Eurexp|euxassay_003142|basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, thymus primordium, trigeminal V, vagus X, ventral grey horn	OMIM|147795;COSMIC||ALL
Mural	TPCN1	1.891187681	0.001483475	Voltage gated channel	BrainSpLMD|53373	OMIM|609666
Mural	RAP1GDS1	0.319740061	0.001511441	Guanine nucleotide exchange factor	BrainSpLMD|5910;Eurexp|euxassay_003801|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, penis, trigeminal V, ventral grey horn	OMIM|179502;COSMIC||T-ALL
Mural	MIR22HG	1.994105834	0.001514507		BrainSpLMD|84981	
Mural	RPS6	0.49413023	0.0015201	Ribosomal subunit	BrainSpLMD|6194	OMIM|180460
Mural	PFN1	1.132835933	0.001525902	Cytoskeletal associated protein	BrainSpLMD|5216	OMIM|176610;HPO|5216|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dysarthria, Dysphagia, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Muscle weakness, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
Mural	JUND	0.643286227	0.001530316	Transcription factor	BrainSpLMD|3727;BrainSpMouseDev|16251	OMIM|165162
Mural	UBE2Z	0.80473553	0.001586883	Ubiquitin proteasome system protein	BrainSpLMD|65264	OMIM|611362
Mural	KLHL23	1.346994193	0.001597625	Cytoskeletal associated protein	BrainSpLMD|151230;Eurexp|euxassay_008410|embryo	
Mural	RPS7P1	0.835307501	0.001603622			
Mural	DAD1	0.936995452	0.00162544	Adapter molecule	BrainSpLMD|1603;Eurexp|euxassay_012117|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|600243
Mural	FEM1B	1.501128813	0.001629153	Unclassified	BrainSpLMD|10116	OMIM|613539
Mural	SGIP1	0.761886595	0.001648078	Unclassified	BrainSpLMD|84251;Eurexp|euxassay_001827|brain, spinal cord, trigeminal V	OMIM|611540
Mural	DMD	1.351670953	0.001711321	Structural protein	BrainSpLMD|1756;Eurexp|euxassay_010997|incisor, lateral wall, mantle layer, molar, ventricular layer, vibrissa	SFARI||Autism, No category;OMIM|300377;HPO|1756|Abnormal urinary color, Adult onset, Arrhythmia, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Childhood onset, Cognitive impairment, Congestive heart failure, Delayed speech and language development, Difficulty climbing stairs, Difficulty walking, Dilated cardiomyopathy, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Exercise intolerance, Falls, Fatigue, Flexion contracture, Generalized hypotonia, Global developmental delay, Gowers sign, Hyperlordosis, Hyporeflexia, Hypoventilation, Intellectual disability, Intellectual disability, mild, Motor delay, Muscle cramps, Muscle weakness, Muscular dystrophy, Myalgia, Myoglobinuria, Progressive muscle weakness, Proximal muscle weakness, Respiratory failure, Respiratory insufficiency, Scoliosis, Skeletal muscle atrophy, Specific learning disability, Waddling gait, X-linked inheritance, X-linked recessive inheritance
Mural	UQCRH	0.370005628	0.001728865	Enzyme: Reductase	Eurexp|euxassay_006525|anterior, axial skeleton, bladder, brain, cortex, epidermis, epithelium, external, footplate, handplate, incisor, inner ear, integumental system, left lung, liver, metanephros, midgut, molar, naso-lacrimal duct, olfactory, pancreas, paraxial mesenchyme, pharyngo-tympanic tube, posterior, rectum, renal/urinary system, rest of mesenchyme, rest of skin, retina, right lung, skeletal muscle, spinal cord, stomach, submandibular gland primordium, thymus primordium, trachea, urethra, vertebral axis muscle system, vibrissa	OMIM|613844
Mural	COL27A1	0.702683779	0.001747774	Extracellular matrix protein	BrainSpLMD|85301;Eurexp|euxassay_016233|Meckel's cartilage, axial skeleton, clavicle, cricoid, exoccipital bone, femur, fibula, hyoid bone, lung, mesenchyme, metatarsus, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, rib, sternum, temporal bone, thyroid, tibia, trachea, turbinate, vibrissa	OMIM|608461;HPO|85301|Autosomal recessive inheritance, Dislocated radial head, Hypertelorism, Prominent forehead, Scoliosis, Short stature, Wide nasal bridge
Mural	NDUFA2	0.871193821	0.001771921	Enzyme: Oxidoreductase	BrainSpLMD|4695	OMIM|602137;HPO|4695|Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
Mural	TMEM179B	1.903296696	0.001782116	Integral membrane protein	BrainSpLMD|374395	
Mural	ALG9	1.159142714	0.001797364	Enzyme: Transferase	BrainSpLMD|79796	OMIM|606941;HPO|79796|Abnormal heart morphology, Abnormal lung lobation, Autosomal recessive inheritance, Brachycephaly, Cognitive impairment, Congenital diaphragmatic hernia, Congenital onset, Convex nasal ridge, Delayed CNS myelination, Esotropia, Failure to thrive, Flexion contracture, Generalized hypotonia, Global brain atrophy, Global developmental delay, Hepatic failure, Hepatosplenomegaly, Hypertelorism, Inverted nipples, Large fleshy ears, Low-set ears, Microcephaly, Micrognathia, Muscular hypotonia, Pericardial effusion, Periportal fibrosis, Polycystic kidney dysplasia, Posteriorly rotated ears, Pulmonary hypoplasia, Retrognathia, Seizures, Short long bone, Short neck, Skeletal dysplasia, Smooth philtrum, Telecanthus, Ulnar deviation of the hand, Underdeveloped nasal alae
Mural	RPL35P1	0.631901203	0.001803729			
Mural	SPCS1	0.982275174	0.001825034	Unclassified	BrainSpLMD|28972;Eurexp|euxassay_008166|mandible, maxilla	OMIM|610358
Mural	ENTPD1	0.587445551	0.001832766	Enzyme: Hydrolase	BrainSpLMD|953	OMIM|601752;HPO|953|Aggressive behavior, Autosomal recessive inheritance, Delayed puberty, Dysarthria, Gait disturbance, Intellectual disability, Intellectual disability, moderate, Skeletal muscle atrophy
Mural	NEK7	0.343615939	0.001839584	Serine/threonine kinase	BrainSpLMD|140609;Eurexp|euxassay_018629|mantle layer, olfactory;BrainSpMouseDev|37685	OMIM|606848
Mural	AP3B1	1.776160113	0.001849291	Adapter molecule	BrainSpLMD|8546	OMIM|603401;HPO|8546|Aberrant melanosome maturation, Acetabular dysplasia, Albinism, Autosomal recessive inheritance, Carious teeth, Coarse facial features, Congenital onset, Fair hair, Hepatomegaly, Hip dysplasia, Intellectual disability, mild, Long philtrum, Low-set ears, Microcephaly, Motor delay, Neutropenia, Nystagmus, Ocular albinism, Periodontitis, Photophobia, Posteriorly rotated ears, Pulmonary fibrosis, Recurrent bacterial infections, Reduced visual acuity, Smooth philtrum, Splenomegaly, Strabismus, Thin upper lip vermilion, Thrombocytopenia, Upslanted palpebral fissure, Visual impairment, Wide nasal bridge
Mural	XYLT2	1.407960475	0.00186424	Enzyme: Transferase	BrainSpLMD|64132;Eurexp|euxassay_005092|dorsal root ganglion, trigeminal V, ventricular layer	OMIM|608125;HPO|64132|Abnormality of the eyebrow, Abnormality of the intervertebral disk, Amblyopia, Aplasia/Hypoplasia of the lens, Atrial septal defect, Autosomal recessive inheritance, Cataract, Disproportionate short-trunk short stature, Facial hypotonia, Hypertelorism, Iris hypopigmentation, Long fingers, Long toe, Low posterior hairline, Low-set ears, Microphthalmia, Mitral valve prolapse, Muscle weakness, Nystagmus, Osteopenia, Osteoporosis, Pes planus, Platyspondyly, Posteriorly rotated ears, Retinal detachment, Sensorineural hearing impairment, Shield chest, Short neck, Thoracic kyphosis, Ventricular septal defect, Vertebral compression fractures, Visual loss, Webbed neck
Mural	C1orf54	2.40476682	0.001886219	Unclassified	BrainSpLMD|79630	
Mural	RP11.380G5.2	0.830042106	0.001919045			
Mural	ILK	1.389828191	0.001960604	Serine/threonine kinase	BrainSpLMD|3611	OMIM|602366
Mural	CNN3	0.410641006	0.001969996	Cytoskeletal associated protein	BrainSpLMD|1266;Eurexp|euxassay_009765|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|602374
Mural	ITGB5	1.129603587	0.00199849	Adhesion molecule	BrainSpLMD|3693	OMIM|147561
Mural	UQCR11	0.659710403	0.002002811	Enzyme: Reductase	BrainSpLMD|10975	OMIM|609711
Mural	JUN	0.682669489	0.00201695	Transcription factor	BrainSpLMD|3725;Eurexp|euxassay_017995|mantle layer, metacarpus, metatarsus, olfactory, phalanx, ventral grey horn, ventricular layer;BrainSpMouseDev|16249	OMIM|165160;COSMIC||sarcoma
Mural	RPL10A	0.592771363	0.002026986	Ribosomal subunit		OMIM|615660
Mural	IFIT3	2.988439968	0.002090572	Unclassified	BrainSpLMD|3437;BrainSpMouseDev|15732	OMIM|604650
Mural	MTO1	2.148380252	0.002100923	Unclassified	BrainSpLMD|25821	OMIM|614667;HPO|25821|Arrhythmia, Autosomal recessive inheritance, Cognitive impairment, Congenital onset, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hypertrophic cardiomyopathy, Hypoglycemia, Increased serum lactate, Lactic acidosis, Metabolic acidosis, Poor speech, Small for gestational age
Mural	TNFAIP8	1.507365552	0.002142468	Unclassified	BrainSpLMD|25816;Eurexp|euxassay_009284|axial skeleton, choroid plexus, cricoid, nasal septum, pectoral girdle and thoracic body wall, submandibular gland primordium, thymus primordium, thyroid, trachea, turbinate bones, ventricular layer	OMIM|612111
Mural	JAM3	0.88759788	0.002168269	Adhesion molecule	BrainSpLMD|83700;Eurexp|euxassay_000180|cerebral cortex, chondrocranium, diaphragm, head mesenchyme, limb, mantle layer, mesenchyme, tongue, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|58180	OMIM|606871;HPO|83700|Autosomal recessive inheritance, Cataract, Congenital onset, Global developmental delay, Hepatomegaly, Hyperreflexia, Postnatal microcephaly, Seizures, Spasticity, Ventriculomegaly
Mural	SH3PXD2A	0.810561454	0.002210323	Adapter molecule	BrainSpLMD|9644;Eurexp|euxassay_012261|clavicle, meninges, mesenchyme, skeletal muscle, ventricular layer	
Mural	SRSF3	0.546516896	0.002212673	RNA binding protein	BrainSpLMD|6428	OMIM|603364;COSMIC||follicular lymphoma
Mural	SYPL1	1.937884	0.002222787	Integral membrane protein	BrainSpLMD|6856;Eurexp|euxassay_005903|embryo	OMIM|616665
Mural	ANKRD40	0.665407943	0.002231763	Unclassified	BrainSpLMD|91369	
Mural	CDR2L	0.526282457	0.002231879	Unclassified	BrainSpLMD|30850	
Mural	MBNL3	2.898320048	0.002243924	RNA binding protein	BrainSpLMD|55796	OMIM|300413
Mural	PXDC1	1.49564251	0.00224489	Unclassified	BrainSpLMD|221749	
Mural	GCNT2	1.163172922	0.002334247	Enzyme: Glucosaminyltransferase	BrainSpLMD|2651;Eurexp|euxassay_005635|cervical, cervico-thoracic, dorsal root ganglion, olfactory, trigeminal V	OMIM|600429;HPO|2651|Autosomal dominant inheritance, Autosomal recessive inheritance, Blood group antigen abnormality, Congenital cataract
Mural	CTDSP1	2.398984613	0.002335986	Enzyme: Phosphatase	BrainSpLMD|58190	OMIM|605323
Mural	FAM32A	0.954458682	0.002346776	Unclassified	BrainSpLMD|26017	OMIM|614554
Mural	HSPA14	1.215967044	0.002417057	Chaperone	BrainSpLMD|51182	OMIM|610369
Mural	HERC2P9	0.687223657	0.002460009			
Mural	ST5	0.939052098	0.00246639	Unclassified	BrainSpLMD|6764	OMIM|140750
Mural	RP11.16E23.4	1.085178679	0.002520077			
Mural	MT.ND2	0.463514614	0.002690286			
Mural	CHMP5	0.690909093	0.002708799	Transport/cargo protein	BrainSpLMD|51510	OMIM|610900
Mural	PPM1B	0.551911647	0.002744435	Serine/threonine phosphatase	BrainSpLMD|5495	OMIM|603770;HPO|5495|Cystinuria, Depressed nasal bridge, Failure to thrive, Frontal bossing, Global developmental delay, Growth delay, Hypocalcemia, Hypogonadism, Intellectual disability, moderate, Lactic acidosis, Long eyelashes, Low-set, posteriorly rotated ears, Mitochondrial respiratory chain defects, Muscular hypotonia, Nasal speech, Nephrolithiasis, Seizures
Mural	RNF213	1.698454038	0.002756316	Unclassified	BrainSpLMD|57674	OMIM|613768;COSMIC||ALCL;HPO|57674|Abnormality of the cerebral vasculature, Intellectual disability, Seizures, Telangiectasia, Ventriculomegaly
Mural	HIF1A	0.35473617	0.002764836	Transcription factor	BrainSpLMD|3091;BrainSpMouseDev|15027	OMIM|603348;COSMIC||endometrioid carcinoma, glioblastoma, colorectal, renal, lung, pancreatic
Mural	SETX	0.821899185	0.002798517	DNA helicase	BrainSpLMD|23064	OMIM|608465;HPO|23064|Abnormal lower motor neuron morphology, Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Amyotrophic lateral sclerosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Axonal degeneration, Babinski sign, Decreased motor nerve conduction velocity, Degeneration of anterior horn cells, Difficulty walking, Diffuse axonal swelling, Distal muscle weakness, Elevated serum creatine phosphokinase, Gaze-evoked nystagmus, Hyperreflexia, Impaired distal vibration sensation, Increased antibody level in blood, Limb ataxia, Pallor of dorsal columns of the spinal cord, Pes cavus, Polyneuropathy, Pontocerebellar atrophy, Progressive, Progressive gait ataxia, Saccadic smooth pursuit, Slow progression, Variable expressivity
Mural	UBE2E2	2.146006486	0.002843653	Ubiquitin proteasome system protein	BrainSpLMD|7325	OMIM|602163
Mural	EMP2	1.162281029	0.002860292	Cell cycle control protein	BrainSpLMD|2013;Eurexp|euxassay_013721|bladder, epithelium, incisor, larynx, left lung, mantle layer, marginal layer, midgut, molar, pharyngo-tympanic tube, rectum, right lung, skeletal muscle, stomach, thymus primordium, trachea, urethra, ventricular layer, vibrissa	OMIM|602334;HPO|2013|Autosomal recessive inheritance, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome
Mural	CAMK2D	1.466664961	0.002866086	Serine/threonine kinase	BrainSpLMD|817;Eurexp|euxassay_010500|facial VII, glossopharyngeal IX, mantle layer, mesenchyme, olfactory, trigeminal V, vagus X, ventricle, ventricular layer	OMIM|607708
Mural	TIPARP	1.286359677	0.00289237	DNA binding protein	BrainSpLMD|25976	OMIM|612480
Mural	TMEM50A	0.960584207	0.002915859	Integral membrane protein		OMIM|605348
Mural	TPI1P1	0.694950518	0.002917693			
Mural	POLR2G	0.771331533	0.002957665	RNA polymerase	BrainSpLMD|5436	OMIM|602013
Mural	PSMB6	1.052999338	0.002963448	Ubiquitin proteasome system protein	BrainSpLMD|5694	OMIM|600307
Mural	ADAM19	1.294308054	0.00297712	Metallo protease	BrainSpLMD|8728;Eurexp|euxassay_002478|bladder, mantle layer;BrainSpMouseDev|11280	OMIM|603640
Mural	PIP4K2A	0.768401065	0.003071847	Lipid Kinase	BrainSpLMD|5305;Eurexp|euxassay_018594|basal plate, dorsal root ganglion, foregut-midgut junction, head mesenchyme, hindgut, incisor, lobe, loop, lumen, mantle layer, medullary stroma, mesenchyme, midgut, olfactory, rectum, stomach, testis, thymus primordium, ventral grey horn, vertebral axis muscle system, vomeronasal organ	OMIM|603140
Mural	SGPL1	0.808877404	0.003117169	Enzyme: Lyase	BrainSpLMD|8879;Eurexp|euxassay_009987|mantle layer, mesenchyme, metanephros, olfactory, renal/urinary system, thymus primordium	OMIM|603729
Mural	NR4A3	1.293029413	0.00316439	Nuclear receptor	BrainSpLMD|8013;Eurexp|euxassay_016920|floorplate, marginal layer;BrainSpMouseDev|17891	OMIM|600542;COSMIC||extraskeletal myxoid chondrosarcoma;HPO|8013|Chondrosarcoma, Somatic mutation
Mural	UQCRQ	0.997501796	0.00320254	Unclassified	BrainSpLMD|27089	OMIM|612080;HPO|27089|Abnormality of extrapyramidal motor function, Absent speech, Ataxia, Athetosis, Autosomal recessive inheritance, Dystonia, Generalized hypotonia, Global developmental delay, Hyperreflexia, Increased serum lactate, Intellectual disability, Intellectual disability, severe
Mural	DENND5A	0.810154247	0.003228875	Unclassified	BrainSpLMD|23258	OMIM|617278
Mural	CTSB	0.348743357	0.00328061	Cysteine protease	BrainSpLMD|1508	OMIM|116810;HPO|1508|Erythema
Mural	LINC00998	1.178394009	0.003316941			
Mural	TMSB4XP8	0.584502329	0.003319209	Cytoskeletal associated protein		
Mural	RAB21	0.916204736	0.003336012	GTPase	BrainSpLMD|23011;Eurexp|euxassay_010091|dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, neural retina, thymus primordium, trigeminal V, vagus X	OMIM|612398
Mural	NFKBIA	0.473277706	0.003352247	Transcription regulatory protein	BrainSpLMD|4792;Eurexp|euxassay_009409|anterior, mandible, maxilla, molar, naris, thymus primordium;BrainSpMouseDev|17802	OMIM|164008;HPO|4792|Anhidrosis, Anhidrotic ectodermal dysplasia, Aplasia of the sweat glands, Autosomal dominant inheritance, Concave nasal ridge, Conical tooth, Frontal bossing, Heat intolerance, Hypodontia, Hypohidrosis, Infantile onset, Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Sparse hair
Mural	ITGB1P1	1.190830118	0.003357239			
Mural	STAM2	0.677063821	0.003380837	Adapter molecule	BrainSpLMD|10254;Eurexp|euxassay_016355|cornea, epidermis, incisor, molar, urethra, vibrissa	OMIM|606244
Mural	CALCOCO2	0.834379556	0.003435251	Unclassified	BrainSpLMD|10241	OMIM|604587
Mural	COMT	1.449416045	0.003445708	Enzyme: Acyltransferase	BrainSpLMD|1312;Eurexp|euxassay_018193|basal columns, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, mantle layer, thymus primordium, trigeminal V, vagus X;BrainSpMouseDev|12629	OMIM|116790;HPO|1312|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
Mural	CWC15	1.053130209	0.003450263	Unclassified	BrainSpLMD|51503	
Mural	MT.ND6	0.336020698	0.003497219			
Mural	M6PR	1.528158734	0.003567411	Integral membrane protein	BrainSpLMD|4074	OMIM|154540
Mural	SLC3A2	0.538579574	0.003586657	Membrane transport protein	BrainSpLMD|6520;Eurexp|euxassay_007752|incisor, liver, mantle layer, meninges, midgut, molar, submandibular gland primordium, thymus primordium, vibrissa	OMIM|158070
Mural	DNAJB1	0.32342886	0.003612097	Heat shock protein	BrainSpLMD|3337	OMIM|604572;COSMIC||fibrolamellar hepatocellular carcinoma
Mural	OSTC	1.150783093	0.00364245	Integral membrane protein	BrainSpLMD|58505;Eurexp|euxassay_003969|Meckel's cartilage, clavicle, cranium, rib, turbinate	
Mural	FOSL2	1.089089324	0.00368979	Transcription factor	BrainSpLMD|2355;Eurexp|euxassay_018136|adrenal gland, axial skeleton, calyces, clavicle, ductus deferens, fundus, hindgut, intervertebral disc, mandible, mantle layer, marginal layer, maxilla, midgut, pelvis, testis, urethra, vertebral cartilage condensation, vibrissa;BrainSpMouseDev|14061	OMIM|601575
Mural	EDIL3	1.119836243	0.003690562	Extracellular matrix protein	BrainSpLMD|10085	OMIM|606018
Mural	TLE1	1.234078378	0.003804817	Transcription regulatory protein	BrainSpLMD|7088;Eurexp|euxassay_017921|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, pituitary, stroma, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|21644	OMIM|600189
Mural	SAP18	0.426388107	0.003809465	Transcription regulatory protein	BrainSpLMD|10284	OMIM|602949
Mural	TBRG1	1.024329707	0.003829214	DNA binding protein	BrainSpLMD|84897;Eurexp|euxassay_001972|Meckel's cartilage, basisphenoid bone, frontal bone primordium, incisor, molar, orbito-sphenoid, turbinate	OMIM|610614
Mural	PABPC1	0.775726672	0.003857287	RNA binding protein	Eurexp|euxassay_005676|embryo	OMIM|604679;COSMIC||HNSCC, biliary tract carcinoma
Mural	TMEM263	0.767560238	0.003949567	Integral membrane protein	BrainSpLMD|90488	
Mural	MT.TM	0.791881702	0.00405728			
Mural	IFI16	1.530024393	0.004102307	Transcription regulatory protein	BrainSpLMD|3428;Eurexp|euxassay_019604|Meckel's cartilage, adrenal gland, axial skeleton, exoccipital bone, femur, fibula, hip, humerus, mesenchyme, nasal septum, orbito-sphenoid, otic capsule, radius, rib, scapula, temporal bone, thymus primordium, tibia, turbinate, ulna	OMIM|147586
Mural	WIPI2	0.546573819	0.004123875	Unclassified	BrainSpLMD|26100;Eurexp|euxassay_003259|dorsal root ganglion, epidermal component, facial VII, inferior, submandibular gland primordium, superior, trigeminal V, vagus X, ventricular layer	OMIM|609225
Mural	MT.ND3	0.669892164	0.004199711			
Mural	DOPEY2	1.130534346	0.004223812	Unclassified	BrainSpLMD|9980	OMIM|604803
Mural	FKBP1C	1.157864204	0.004286157			
Mural	HSPB1	0.86597765	0.004333959	Chaperone	BrainSpLMD|3315	OMIM|602195;HPO|3315|Adult onset, Areflexia, Areflexia of lower limbs, Autosomal dominant inheritance, Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Difficulty walking, Distal amyotrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Distal sensory impairment, EMG: chronic denervation signs, EMG: neuropathic changes, Fasciculations, Foot dorsiflexor weakness, Heterogeneous, Hyporeflexia, Hyporeflexia of lower limbs, Impaired pain sensation, Impaired temperature sensation, Limb fasciculations, Lower limb muscle weakness, Muscle cramps, Paresis of extensor muscles of the big toe, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Reduced tendon reflexes, Slow progression, Split hand, Steppage gait, Talipes equinovarus, Ulnar claw, Upper limb amyotrophy
Mural	YWHAZP2	0.585134787	0.004339882			
Mural	ARHGAP1	0.830040007	0.004344209	GTPase activating protein	BrainSpLMD|392	OMIM|602732
Mural	RPLP2	0.805239668	0.004368349	Ribosomal subunit		OMIM|180530
Mural	C1orf52	1.168090581	0.004413151	Unclassified	BrainSpLMD|148423	
Mural	COX6B1	0.797285401	0.004440635	Enzyme: Oxidoreductase	BrainSpLMD|1340	OMIM|124089;HPO|1340|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
Mural	NAGA	1.076532224	0.004459625	Enzyme: Glycosidase	BrainSpLMD|4668;Eurexp|euxassay_018778|choroid invagination, choroid plexus, clavicle, femur, humerus, mandible, maxilla, orbito-sphenoid, rib, roof plate	OMIM|104170;HPO|4668|Abnormal pyramidal signs, Abnormality of brainstem morphology, Abnormality of extrapyramidal motor function, Abnormality of the eye, Adult onset, Aminoaciduria, Angiokeratoma corporis diffusum, Autism, Autosomal recessive inheritance, Axonal degeneration, Cardiomegaly, Cataract, Cerebral atrophy, Coarse facial features, Cognitive impairment, Cortical visual impairment, Depressed nasal bridge, Developmental regression, Distal muscle weakness, Distal sensory impairment, Distal sensory impairment of all modalities, Dry skin, Generalized amyotrophy, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hepatomegaly, Hyperkeratosis, Hyperreflexia, Hypertrophic cardiomyopathy, Increased urinary O-linked sialopeptides, Infantile onset, Intellectual disability, Intellectual disability, mild, Intellectual disability, severe, Lip telangiectasia, Lymphedema, Muscle weakness, Muscular hypotonia, Myoclonus, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Osteopenia, Papule, Peripheral axonal neuropathy, Peripheral neuropathy, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus, Subcutaneous nodule, Telangiectasia of the oral mucosa, Telangiectasia of the skin, Thick lower lip vermilion, Thick vermilion border, Tinnitus, Vertigo, White mater abnormalities in the posterior periventricular region
Mural	MAP4K3	0.814036354	0.004478428	Serine/threonine kinase	BrainSpLMD|8491	OMIM|604921
Mural	C19orf70	0.322832512	0.004642664	Unclassified	BrainSpLMD|125988	OMIM|616658;HPO|125988|3-Methylglutaconic aciduria, Ataxia, Choreoathetosis, Dysarthria, Intellectual disability, Nystagmus, Spastic paraparesis, Visual impairment
Mural	HSP90B1	0.964922419	0.004659628	Heat shock protein	BrainSpLMD|7184;Eurexp|euxassay_000099|body-wall mesenchyme, dermis, epidermis, nucleus pulposus	OMIM|191175
Mural	WDR41	0.580794916	0.004756908	Unclassified	BrainSpLMD|55255	OMIM|617502
Mural	TPI1	0.723692257	0.004770497	Enzyme: Isomerase	BrainSpLMD|7167	OMIM|190450;HPO|7167|Abnormality of immune system physiology, Autosomal recessive inheritance, Central nervous system degeneration, Cholecystitis, Cholelithiasis, Chronic hemolytic anemia, Congestive heart failure, Diaphragmatic paralysis, Dystonia, Generalized hypotonia, Global developmental delay, Hemolytic anemia, Hyporeflexia, Jaundice, Kyphosis, Muscular hypotonia, Myopathy, Normochromic anemia, Normocytic anemia, Peripheral neuropathy, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Splenomegaly, Tremor, Unsteady gait
Mural	MYO15B	2.004191813	0.0048847		BrainSpLMD|80022	
Mural	AGFG1	1.012370758	0.004973535	RNA binding protein	BrainSpLMD|3267	OMIM|600862
Mural	KIAA1109	1.358235426	0.005163007	Unclassified	BrainSpLMD|84162	OMIM|611565
Mural	RP11.3P17.3	0.605505262	0.005230244			
Mural	PID1	0.649779572	0.005270915	Unclassified	BrainSpLMD|55022	OMIM|612930
Mural	SLU7	0.661473588	0.005322886	Unclassified	BrainSpLMD|10569	OMIM|605974
Mural	RRBP1	2.130816392	0.005426811	Integral membrane protein	BrainSpLMD|6238	OMIM|601418
Mural	C18orf54	0.617749424	0.005518317	Unclassified		OMIM|613258
Mural	DYRK2	1.213781121	0.005532751	Tyrosine kinase	BrainSpLMD|8445;Eurexp|euxassay_016272|mantle layer	OMIM|603496
Mural	MIR3916	1.638864083	0.005533186			
Mural	EIF4A2	0.435409247	0.005536783	Translation regulatory protein	BrainSpLMD|1974	OMIM|601102;COSMIC||NHL
Mural	PHF2	1.703641283	0.005567994	Transcription regulatory protein	BrainSpLMD|5253	SFARI||Autism, 3 - Suggestive evidence;OMIM|604351
Mural	SH3BGRL	0.930517635	0.005579867	Unclassified	BrainSpLMD|6451	OMIM|300190
Mural	EEF1D	0.357573047	0.005617485	Guanine nucleotide exchange factor	BrainSpLMD|1936	OMIM|130592
Mural	RPL26L1	0.713982581	0.005632272	Unclassified		
Mural	PCCA	0.970212562	0.005643285	Enzyme: Carboxylase	BrainSpLMD|5095;Eurexp|euxassay_018934|marginal layer, nucleus pulposus, orbito-sphenoid, submandibular gland primordium, ventricular layer, vibrissa	SFARI||Autism, No category;OMIM|232000;HPO|5095|Abnormality of immune system physiology, Acute encephalopathy, Anemia, Apnea, Arrhythmia, Autosomal recessive inheritance, Cardiomyopathy, Cerebral atrophy, Coma, Constipation, Dehydration, Dystonia, Eczema, Failure to thrive, Feeding difficulties in infancy, Global developmental delay, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Hyperglycinuria, Hypoglycemia, Intellectual disability, Lactic acidosis, Lethargy, Limb hypertonia, Metabolic acidosis, Muscular hypotonia of the trunk, Neutropenia, Organic aciduria, Osteoporosis, Pancreatitis, Pancytopenia, Poor appetite, Propionyl-CoA carboxylase deficiency, Seizures, Short stature, Tachypnea, Thrombocytopenia, Vomiting
Mural	GLO1	0.527667597	0.005712255	Enzyme: Lyase	BrainSpLMD|2739	SFARI||Autism, 4 - Minimal evidence;OMIM|138750
Mural	DUSP5	1.354000363	0.005743574	Dual specificity phosphatase	BrainSpLMD|1847;Eurexp|euxassay_013720|cortex, epithelium, left lung, mantle layer, marginal layer, molar, right lung, thymus primordium, ventricle	OMIM|603069
Mural	ARPC1B	0.385942619	0.005771019	Cytoskeletal associated protein	BrainSpLMD|10095	OMIM|604223
Mural	SYNE1	0.98282418	0.005807242	Unclassified	BrainSpLMD|23345	SFARI||Autism, 4 - Minimal evidence;OMIM|608441;HPO|23345|Adult onset, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Childhood onset, Dysarthria, Dysmetria, Elevated serum creatine phosphokinase, Gait ataxia, Left ventricular septal hypertrophy, Limb ataxia, Muscular dystrophy, Neck muscle weakness, Nystagmus, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Slow progression
Mural	REST	1.278973729	0.005818714	Transcription regulatory protein	BrainSpLMD|5978;BrainSpMouseDev|19475	OMIM|600571;HPO|5978|Abdominal pain, Gingival fibromatosis, Gingival overgrowth, Nephroblastoma
Mural	DPM3	1.385422126	0.005883051	Enzyme: Synthase	BrainSpLMD|54344	OMIM|605951;HPO|54344|Autosomal recessive inheritance, Dilated cardiomyopathy, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Increased variability in muscle fiber diameter, Muscle weakness, Rimmed vacuoles, Type I transferrin isoform profile, Waddling gait
Mural	BHLHE40	1.028531518	0.006003851	Transcription factor	BrainSpLMD|8553;BrainSpMouseDev|20655	OMIM|604256
Mural	SSR4	0.976617694	0.006086712	Membrane transport protein	BrainSpLMD|6748;Eurexp|euxassay_002889|Meckel's cartilage, axial skeleton, basisphenoid bone, chondrocranium, exoccipital bone, incisor, lobe, molar, nasal capsule, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, rib, submandibular gland primordium, thymus primordium, turbinate	OMIM|300090;HPO|6748|Abnormal facial shape, Abnormality of upper lip vermillion, Clinodactyly, Congenital onset, Deeply set eye, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hypospadias, Intellectual disability, Joint dislocation, Macrotia, Microcephaly, Micrognathia, Scoliosis, Seizures, Strabismus, Type I transferrin isoform profile, Vomiting, Wide mouth, Widely spaced teeth, X-linked recessive inheritance
Mural	MRPL24	0.390914687	0.006093693	Ribosomal subunit	BrainSpLMD|79590;Eurexp|euxassay_003446|adenohypophysis, incisor, oesophagus, olfactory, pancreas, respiratory, submandibular gland primordium, testis, thymus primordium, thyroid, vibrissa	OMIM|611836
Mural	DISC1	2.36645022	0.006133255	Unclassified	BrainSpLMD|27185;BrainSpMouseDev|89267	SFARI||Autism, 3 - Suggestive evidence;OMIM|605210
Mural	HERPUD2	0.331060838	0.006174466	Unclassified	BrainSpLMD|64224	
Mural	PARP14	1.71402021	0.006219426	Unclassified	BrainSpLMD|54625	OMIM|610028
Mural	ATP6V1G1	0.576770894	0.006320118	Transport/cargo protein	BrainSpLMD|9550;Eurexp|euxassay_006208|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, stroma, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|607296
Mural	CACNB4	1.714700481	0.00636524	Voltage gated channel	BrainSpLMD|785;Eurexp|euxassay_010369|marginal layer	OMIM|601949;HPO|785|Autosomal dominant inheritance, Dysarthria, Episodic ataxia, Gaze-evoked nystagmus, Incomplete penetrance, Vertigo
Mural	MKL2	1.569553556	0.006399419	Transcription factor	BrainSpLMD|57496	SFARI||Autism, 4 - Minimal evidence;OMIM|609463
Mural	AC116366.6	0.423151841	0.006435558			
Mural	CAST	1.93471577	0.006494932	Protease inhibitor	BrainSpLMD|831	OMIM|114090;HPO|831|Angular cheilitis, Autosomal recessive inheritance, Epidermal acanthosis, Leukonychia, Palmoplantar keratoderma, Scaling skin
Mural	SOD1	0.385390315	0.006500393	Enzyme: Superoxide dismutase	BrainSpLMD|6647	SFARI||Autism, No category;OMIM|147450;HPO|6647|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Degeneration of anterior horn cells, Degeneration of the lateral corticospinal tracts, Depressivity, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Heterogeneous, Hyperreflexia, Muscle cramps, Muscle weakness, Neurodegeneration, Pain, Paralysis, Pseudobulbar paralysis, Respiratory failure, Skeletal muscle atrophy, Sleep apnea, Spasticity, Xerostomia
Mural	HSPA12A	1.444486187	0.006508222	Heat shock protein	BrainSpLMD|259217	OMIM|610701
Mural	PSME2	2.239976424	0.006572505	Ubiquitin proteasome system protein	BrainSpLMD|5721;Eurexp|euxassay_007332|thymus primordium	OMIM|602161
Mural	ZBTB38	0.322992091	0.006586588	Transcription regulatory protein		OMIM|612218
Mural	BMP1	1.98441746	0.006592358	Metallo protease	BrainSpLMD|649;BrainSpMouseDev|11939	OMIM|112264;HPO|649|Autosomal recessive inheritance, Platyspondyly, Skeletal muscle atrophy, Triangular face
Mural	ATP5G2P4	0.70912193	0.006632159			
Mural	GPM6B	0.269529532	0.006707328	Integral membrane protein	BrainSpLMD|2824;Eurexp|euxassay_011476|intermediate grey horn, mantle layer, marginal layer, ventral grey horn, ventricular layer	OMIM|300051
Mural	EDEM1	0.453587986	0.006796165	Unclassified	BrainSpLMD|9695	OMIM|607673
Mural	SLK	1.110288207	0.006820434	Serine/threonine kinase	BrainSpLMD|9748;Eurexp|euxassay_012162|facial VII, midgut, molar, oesophagus, oral epithelium, rectum, stomach, thymus primordium, thyroid	OMIM|616563
Mural	REL	2.155260308	0.006960002	Transcription factor	BrainSpLMD|5966	OMIM|164910;COSMIC||Hodgkin lymphoma
Mural	HBP1	0.967218166	0.006968497	Transcription factor	BrainSpLMD|26959;BrainSpMouseDev|49230	OMIM|616714
Mural	NAA16	0.456991193	0.007024748	Unclassified	BrainSpLMD|79612	
Mural	COL5A1	0.262554931	0.007135806	Extracellular matrix protein	BrainSpLMD|1289;BrainSpMouseDev|12614	OMIM|120215;HPO|1289|Abnormality of oral frenula, Abnormality of the eyelashes, Aortic dilatation, Aortic dissection, Aortic root dilatation, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Arterial dissection, Arteriovenous fistulas of celiac and mesenteric vessels, Atrophic scars, Autosomal dominant inheritance, Bladder diverticulum, Blue sclerae, Bowel diverticulosis, Bruising susceptibility, Carious teeth, Cigarette-paper scars, Cognitive impairment, Congenital diaphragmatic hernia, Cryptorchidism, Dermal translucency, Ectopia lentis, Epicanthus, Femoral hernia, Flat face, Fragile skin, Gastroesophageal reflux, Gastrointestinal infarctions, Genu recurvatum, Glaucoma, Global developmental delay, Hallux valgus, Hyperextensibility at elbow, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Hyperextensible skin, Hypertelorism, Hypokalemia, Infantile muscular hypotonia, Inguinal hernia, Internal hemorrhage, Irregularly spaced teeth, Joint dislocation, Joint hyperflexibility, Lop ear, Macule, Melanocytic nevus, Mitral valve prolapse, Molluscoid pseudotumors, Myopia, Narrow maxilla, Osteoarthritis, Pectus carinatum, Pectus excavatum, Peripheral arteriovenous fistula, Pes planus, Pneumothorax, Poor wound healing, Premature birth, Premature birth following premature rupture of fetal membranes, Proptosis, Protruding ear, Respiratory insufficiency, Scoliosis, Short stature, Soft skin, Sprengel anomaly, Subcutaneous spheroids, Talipes equinovarus, Telangiectasia of the skin, Telecanthus, Thin skin, Thin vermilion border, Umbilical hernia, Varicose veins
Mural	MTND4P12	0.851792817	0.007219577			
Mural	COX6A1	0.541701588	0.007318293	Enzyme: Oxidoreductase		OMIM|602072;HPO|1337|Areflexia, Autosomal recessive inheritance, Distal sensory impairment, Foot dorsiflexor weakness, Hyporeflexia, Onion bulb formation, Pes cavus, Slow progression, Steppage gait
Mural	LMNA	0.30570273	0.007359676	Structural protein	BrainSpLMD|4000;Eurexp|euxassay_000214|atrio-ventricular cushion tissue, mesenchyme, rest of skin	OMIM|150330;COSMIC||Spitzoid tumour, Muscular dystrophy, dilated cardiomyopathy, familial partial lipodystrophy, and others;HPO|4000|Abnormal atrioventricular conduction, Abnormal cellular phenotype, Abnormal electrophysiology of sinoatrial node origin, Abnormal hair whorl, Abnormal trabecular bone morphology, Abnormality of circulating leptin level, Abnormality of retinal pigmentation, Abnormality of the Achilles tendon, Abnormality of the cerebral vasculature, Abnormality of the eyebrow, Abnormality of the foot, Abnormality of the intrahepatic bile duct, Abnormality of the nail, Abnormality of the pinna, Abnormality of the pulmonary artery, Abnormality of the testis, Abnormality of the voice, Absence of pubertal development, Absence of subcutaneous fat, Absent eyebrow, Absent eyelashes, Acanthosis nigricans, Accelerated atherosclerosis, Achilles tendon contracture, Acroosteolysis of distal phalanges (feet), Acute pancreatitis, Adipose tissue loss, Adrenal hypoplasia, Advanced eruption of teeth, Alopecia, Alopecia universalis, Aminoaciduria, Angina pectoris, Aortic atherosclerosis, Aortic root dilatation, Aortic valve calcification, Aortic valve stenosis, Aplasia of the middle phalanx of the hand, Aplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Aplastic clavicles, Areflexia, Arrhythmia, Arteriosclerosis of small cerebral arteries, Arthrogryposis multiplex congenita, Atherosclerosis, Atrial fibrillation, Atrial flutter, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Axial muscle weakness, Axonal degeneration/regeneration, Basal cell carcinoma, Bilateral coxa valga, Bird-like facies, Blepharophimosis, Brachydactyly, Bradycardia, Broad-based gait, Calcinosis, Calf muscle hypertrophy, Choanal atresia, Chondrocalcinosis, Clinodactyly, Congenital muscular dystrophy, Congenital pseudoarthrosis of the clavicle, Congestive heart failure, Convex nasal ridge, Coronary artery disease, Coronary atherosclerosis, Craniofacial disproportion, Cyanosis, Decreased adiponectin level, Decreased calvarial ossification, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Decreased circulating high-density lipoprotein levels, Decreased fertility, Decreased fetal movement, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Decreased serum estradiol, Decreased serum leptin, Decreased skull ossification, Decreased testosterone in males, Delayed cranial suture closure, Delayed eruption of teeth, Delayed puberty, Dental crowding, Dermal atrophy, Dermal translucency, Diabetes mellitus, Difficulty climbing stairs, Difficulty walking, Dilated cardiomyopathy, Distal amyotrophy, Distal lower limb amyotrophy, Distal muscle weakness, Distal sensory impairment, Down-sloping shoulders, Downslanted palpebral fissures, EMG abnormality, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated serum creatine phosphokinase, Emphysema, Enlarged peripheral nerve, Entropion, Epidermal hyperkeratosis, Failure to thrive, Fasting hyperinsulinemia, Feeding difficulties, Flexion contracture, Foot dorsiflexor weakness, Fragile nails, Full cheeks, Gait disturbance, Generalized amyotrophy, Generalized hyperkeratosis, Generalized lipodystrophy, Generalized osteoporosis, Global developmental delay, Glucose intolerance, Glycosuria, Growth delay, Hepatic steatosis, Hepatomegaly, Heterogeneous, High palate, High pitched voice, Hirsutism, Hydropic placenta, Hypercholesterolemia, Hyperglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hyperkeratosis, Hyperlipidemia, Hyperlordosis, Hypermetropia, Hyperphosphatemia, Hypertelorism, Hypertension, Hypertriglyceridemia, Hypodontia, Hypogonadism, Hypogonadotrophic hypogonadism, Hypohidrosis, Hypoplasia of teeth, Hypoplastic facial bones, Hypoplastic nipples, Hyporeflexia, Hypospadias, Hypotrichosis, Increased adipose tissue around the neck, Increased anterioposterior diameter of thorax, Increased facial adipose tissue, Increased intraabdominal fat, Increased intramuscular fat, Infertility, Insulin resistance, Insulin-resistant diabetes mellitus, Intermittent claudication, Intervertebral disc degeneration, Intracranial hemorrhage, Intrauterine growth retardation, Joint stiffness, Juvenile onset, Keratoconjunctivitis sicca, Kyphoscoliosis, Kyphosis, Labial pseudohypertrophy, Lack of skin elasticity, Large fontanelles, Laryngomalacia, Limb muscle weakness, Limb-girdle muscle weakness, Limb-girdle muscular dystrophy, Limitation of joint mobility, Lipoatrophy, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Loss of truncal subcutaneous adipose tissue, Low-set ears, Macrotia, Malar flattening, Meningioma, Metaphyseal widening, Micrognathia, Midface retrusion, Mildly elevated creatine phosphokinase, Minimal subcutaneous fat, Mitral regurgitation, Mitral valve calcification, Motor delay, Mottled pigmentation, Multiple joint contractures, Muscle hypertrophy of the lower extremities, Muscular dystrophy, Muscular hypotonia, Myalgia, Myocardial infarction, Myopathy, Nail dysplasia, Narrow face, Narrow mouth, Narrow nasal ridge, Narrow nasal tip, Nasal speech, Natal tooth, Neck muscle weakness, Neoplasm of the breast, Neoplasm of the lung, Neoplasm of the oral cavity, Neoplasm of the skin, Neoplasm of the small intestine, Neoplasm of the thyroid gland, Onion bulb formation, Onset, Osteoarthritis, Osteolysis, Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the phalanges of the hand, Osteopenia, Osteoporosis, Osteosarcoma, Ovarian neoplasm, Overtubulated long bones, Ovoid vertebral bodies, Papillary renal cell carcinoma, Patchy hypo- and hyperpigmentation, Patent ductus arteriosus, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Pericardial effusion, Peripheral arterial stenosis, Peripheral axonal atrophy, Peroneal muscle atrophy, Peroneal muscle weakness, Pes cavus, Pes planus, Pili torti, Polycystic ovaries, Polyhydramnios, Poor head control, Postnatal growth retardation, Precocious atherosclerosis, Precocious puberty, Premature arteriosclerosis, Premature birth, Premature coronary artery disease, Premature delivery because of cervical insufficiency or membrane fragility, Premature graying of hair, Premature loss of teeth, Premature ovarian insufficiency, Premature rupture of membranes, Premature skin wrinkling, Primary atrial arrhythmia, Progeroid facial appearance, Progressive, Progressive clavicular acroosteolysis, Prolonged prothrombin time, Prominent forehead, Prominent scalp veins, Prominent superficial blood vessels, Prominent superficial veins, Proptosis, Proximal muscle weakness, Proximal upper limb muscle hypertrophy, Ptosis, Pulmonary carcinoid tumor, Pulmonary hypoplasia, Reduced subcutaneous adipose tissue, Renal neoplasm, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Restricted neck movement due to contractures, Reticulated skin pigmentation, Retinal degeneration, Retrognathia, Rocker bottom foot, Round face, Scaling skin, Scapular winging, Scleroderma, Sclerosis of hand bone, Secondary amenorrhea, Sensorineural hearing impairment, Severe muscular hypotonia, Short clavicles, Short distal phalanx of finger, Short nail, Short palm, Short palpebral fissure, Short stature, Short umbilical cord, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Skin erosion, Skin ulcer, Slow progression, Small placenta, Sparse and thin eyebrow, Sparse body hair, Sparse eyebrow, Sparse eyelashes, Sparse hair, Sparse or absent eyelashes, Sparse scalp hair, Spinal rigidity, Squamous cell carcinoma of the skin, Steppage gait, Stiff skin, Stillbirth, Structural foot deformity, Subcutaneous calcification, Submucous cleft hard palate, Sudden cardiac death, Supraventricular arrhythmia, Syndactyly, Talipes, Tapering pointed ends of distal finger phalanges, Telangiectasia of the skin, Telecanthus, Temporomandibular joint ankylosis, Thin bony cortex, Thin clavicles, Thin nail, Thin ribs, Thin skin, Thin vermilion border, Thrombocytosis, Type II diabetes mellitus, Upper limb muscle weakness, Ureteral duplication, Variable expressivity, Ventricular arrhythmia, Ventricular hypertrophy, White forelock, Wide nasal bridge, Widely patent fontanelles and sutures, Wormian bones, X-linked inheritance, Xanthomatosis
Mural	STAT3	1.197406603	0.007380072	Transcription factor	BrainSpLMD|6774;Eurexp|euxassay_004868|axial skeleton, choroid invagination, dorsal grey horn, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mantle layer, mesenchyme, metatarsus, phalanx, thymus primordium, trigeminal V, ventral grey horn, ventricular layer;BrainSpMouseDev|20610	OMIM|102582;COSMIC||T-cell large granular lymphocytic leukaemia, paediatric large granular lymphocytic leukaemia, IPEX-like syndrome;HPO|6774|Abnormal heart morphology, Abnormality of the hair, Arthrogryposis multiplex congenita, Atelectasis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Autosomal dominant inheritance, Bilateral ptosis, Celiac disease, Chronic otitis media, Cleft palate, Coarse facial features, Contractures of the joints of the lower limbs, Cough, Decreased antibody level in blood, Deeply set eye, Dehydration, Delayed eruption of teeth, Downturned corners of mouth, Dystrophic fingernails, Eczema, Eczematoid dermatitis, Eosinophilia, Failure to thrive, Frontal bossing, Generalized abnormality of skin, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Gingivitis, Global developmental delay, Glycosuria, High palate, Hyperglycemia, Hypertelorism, Hypovolemia, Increased IgE level, Infantile onset, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Ketonuria, Microalbuminuria, Motor delay, Neonatal insulin-dependent diabetes mellitus, Osteopenia, Papule, Paronychia, Persistence of primary teeth, Prominent forehead, Prominent metopic ridge, Pruritus, Recurrent Staphylococcus aureus infections, Recurrent fractures, Recurrent fungal infections, Recurrent respiratory infections, Recurrent sinopulmonary infections, Reduced pancreatic beta cells, Retinopathy, Scoliosis, Short stature, Skin rash, Skin ulcer, Weight loss, Wide nasal bridge, Wide nose
Mural	NUMB	0.254476366	0.007440065	Unclassified	BrainSpLMD|8650;Eurexp|euxassay_012553|ventricle;BrainSpMouseDev|17989	OMIM|603728
Mural	HADHB	1.740493793	0.00747388	Enzyme: Dehydrogenase	BrainSpLMD|3032	OMIM|143450;HPO|3032|Abnormality of the amniotic fluid, Autosomal recessive inheritance, Congestive heart failure, Dilated cardiomyopathy, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Generalized muscle weakness, Global developmental delay, Hydrops fetalis, Hyperammonemia, Hypoketotic hypoglycemia, Lactic acidosis, Myalgia, Myoglobinuria, Peripheral neuropathy, Prenatal maternal abnormality, Respiratory failure, Rhabdomyolysis, Small for gestational age
Mural	MAP2K1	1.563127414	0.007508675	Dual specificity kinase	BrainSpLMD|5604	OMIM|176872;COSMIC||NSCLC, melanoma, colorectal, Cardiofaciocutaneous syndrome;HPO|5604|Abnormal bleeding, Abnormality of the palpebral fissures, Abnormality of the ulna, Abnormality of vision, Amegakaryocytic thrombocytopenia, Anteverted nares, Aplasia/Hypoplasia of the eyebrow, Atrial septal defect, Autosomal dominant inheritance, Biparietal narrowing, Brachydactyly, Brittle hair, Cavernous hemangioma, Clinodactyly, Coarctation of aorta, Coarse facial features, Cryptorchidism, Cubitus valgus, Curly hair, Cystic hygroma, Deep palmar crease, Dental malocclusion, Depressed nasal bridge, Downslanted palpebral fissures, Dry skin, Dystrophic fingernails, EEG abnormality, Epicanthus, Excessive wrinkled skin, Failure to thrive, Failure to thrive in infancy, Feeding difficulties in infancy, Fine hair, Frontal bossing, Full cheeks, Generalized hyperpigmentation, Global developmental delay, Heat intolerance, Heterogeneous, High forehead, High palate, High, narrow palate, Hyperextensible skin, Hyperhidrosis, Hyperkeratosis pilaris, Hypertelorism, Hypertrophic cardiomyopathy, Hypoplasia of the zygomatic bone, Ichthyosis, Intellectual disability, Kyphoscoliosis, Long face, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set, posteriorly rotated ears, Lymphedema, Macrocephaly, Macrotia, Male infertility, Micrognathia, Multiple cafe-au-lait spots, Multiple lentigines, Muscular hypotonia, Myopia, Neurofibrosarcoma, Nystagmus, Palmoplantar keratoderma, Patent ductus arteriosus, Pectus excavatum, Pectus excavatum of inferior sternum, Postnatal growth retardation, Premature birth, Ptosis, Pulmonic stenosis, Radial deviation of finger, Reduced bone mineral density, Reduced factor XII activity, Reduced factor XIII activity, Scoliosis, Seizures, Sensorineural hearing impairment, Shield chest, Short neck, Short nose, Short stature, Slow-growing hair, Sparse hair, Sparse or absent eyelashes, Strabismus, Superior pectus carinatum, Synovitis, Thickened helices, Triangular face, Underdeveloped supraorbital ridges, Ventricular septal defect, Webbed neck, Wide mouth
Mural	ETF1	0.937504307	0.007535921	Translation regulatory protein	BrainSpLMD|2107	OMIM|600285
Mural	NCKIPSD	1.422884312	0.007564495	Adapter molecule	BrainSpLMD|51517	OMIM|606671;COSMIC||ALL
Mural	TBPL1	0.557757483	0.007588308	Transcription factor	BrainSpLMD|9519;Eurexp|euxassay_019419|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|605521
Mural	TMF1	0.28736673	0.007677332	Transcription factor	BrainSpLMD|7110;Eurexp|euxassay_016101|mandible, maxilla	OMIM|601126
Mural	DENND2A	1.431260856	0.007689363	Unclassified		
Mural	TSPYL2	1.811945396	0.007917301	Cell cycle control protein	BrainSpLMD|64061;Eurexp|euxassay_004126|brain, dorsal root ganglion, spinal cord	OMIM|300564
Mural	FAM212B	1.590983608	0.008007037	Unclassified	BrainSpLMD|55924;Eurexp|euxassay_002765|mantle layer, marginal layer, ventral grey horn, ventricular layer	
Mural	ARSG	1.446722101	0.008007148	Enzyme: Sulphatase	BrainSpLMD|22901;Eurexp|euxassay_007487|4th ventricle, choroid fissure, choroid plexus, ventricular layer	OMIM|610008
Mural	CTD.3252C9.4	1.679778665	0.008033877			
Mural	RPS12	0.27015805	0.008086402	Ribosomal subunit	BrainSpMouseDev|19805	OMIM|603660
Mural	PRICKLE2	0.810271853	0.008127967	Unclassified	BrainSpLMD|166336	SFARI||Autism, 3 - Suggestive evidence;OMIM|608501
Mural	CTBP2	0.86619886	0.008212981	Adapter molecule;Transcription regulatory protein	BrainSpLMD|1488;Eurexp|euxassay_012486|eyelid, incisor, lung, marginal layer, metanephros, midgut, molar, pancreas, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|12800	OMIM|602619
Mural	TWISTNB	0.920880024	0.008275267	Transcription factor	BrainSpLMD|221830	OMIM|608312
Mural	LRRFIP2	0.516090663	0.008488104	Unclassified	BrainSpLMD|9209;Eurexp|euxassay_012383|mandible, maxilla, orbito-sphenoid	OMIM|614043
Mural	KIAA0319L	0.998755915	0.008620436	Integral membrane protein	BrainSpLMD|79932;Eurexp|euxassay_005035|adenohypophysis, brain, dorsal root ganglion, glossopharyngeal IX, hindgut, loop, midgut, olfactory, rectum, respiratory, spinal cord, stomach, trigeminal V, vestibulocochlear VIII	OMIM|613535;HPO|79932|Autoimmunity, Dysphagia, Gastroesophageal reflux, Hypopigmented skin patches, Mucosal telangiectasiae, Narrow foramen obturatorium, Nausea and vomiting, Skin ulcer, Telangiectasia of the skin
Mural	AIFM1	1.718837059	0.008790852	Enzyme: Oxidoreductase	BrainSpLMD|9131	OMIM|300169;HPO|9131|Abnormal middle ear reflexes, Abnormal speech discrimination, Abnormality of the striatum, Areflexia, Decreased nerve conduction velocity, Delayed speech and language development, Developmental regression, Distal muscle weakness, Distal sensory impairment, Generalized hypotonia, Generalized muscle weakness, Hearing impairment, Hypokinesia, Impaired pain sensation, Increased CSF lactate, Increased connective tissue, Increased serum lactate, Increased serum pyruvate, Increased variability in muscle fiber diameter, Intellectual disability, Irritability, Kyphosis, Moderate global developmental delay, Pes cavus, Respiratory distress, Respiratory insufficiency, Scoliosis, Sensorimotor neuropathy, Sensory axonal neuropathy, Sensory neuropathy, Severe muscular hypotonia, Skeletal muscle atrophy, Tinnitus, Tongue fasciculations, Unsteady gait, X-linked recessive inheritance
Mural	RPL13	0.338025672	0.008851208	Ribonucleoprotein	BrainSpLMD|6137	OMIM|113703
Mural	CHCHD5	1.863629487	0.008905035	Unclassified	BrainSpLMD|84269;Eurexp|euxassay_002823|orbito-sphenoid, turbinate	OMIM|616978
Mural	ZFP36L2	1.310548907	0.008977833	Transcription factor	BrainSpLMD|678	OMIM|612053
Mural	RPS5	0.349649758	0.009068527	Ribosomal subunit		OMIM|603630
Mural	SRPR	1.126692256	0.009111381			
Mural	RPL13A	0.32797699	0.009122583	Ribosomal subunit		
Mural	USMG5	0.408708868	0.009124235			
Mural	EVI5	1.182443181	0.009346494	Unclassified	BrainSpLMD|7813;Eurexp|euxassay_001717|cervical, cervico-thoracic, lobe;BrainSpMouseDev|13797	OMIM|602942
Mural	RP11.632C17__A.1	1.33473599	0.009369852			
Mural	PSME2P2	0.864853424	0.009381739			
Mural	CACNA1C	1.582794052	0.009439109	Voltage gated channel	BrainSpLMD|775	SFARI||Autism, No category;OMIM|114205;HPO|775|Atrial fibrillation, Autosomal dominant inheritance, Cutaneous syndactyly, Depressed nasal bridge, Global developmental delay, J wave, Microdontia, Prolonged QT interval, Recurrent infections, Round face, Shortened QT interval, Sudden cardiac death, Sudden death, Syncope, Thin upper lip vermilion, Ventricular arrhythmia
Mural	ARL1	1.711511046	0.009442664	GTPase	BrainSpLMD|400	OMIM|603425
Mural	C14orf119	1.499514748	0.009528172	Unclassified		
Mural	LGMN	0.395193762	0.009706972	Cysteine protease	BrainSpLMD|5641;Eurexp|euxassay_011126|choroid invagination, choroid plexus, corpus striatum, embryo, floor plate, floorplate, mandible, maxilla, pituitary, roof plate;BrainSpMouseDev|18904	OMIM|602620
Mural	RPL23A	0.459373501	0.009737663	RNA binding protein		OMIM|602326
Mural	RPS3AP6	0.279852676	0.009770825			
Mural	MEF2A	0.284950612	0.009835195	Transcription regulatory protein	BrainSpLMD|4205;BrainSpMouseDev|17027	OMIM|600660
Mural	PEX2	1.237470406	0.009961811	Integral membrane protein	BrainSpLMD|5828;Eurexp|euxassay_006584|embryo	OMIM|170993;HPO|5828|Abnormal heart morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the helix, Abnormality of the liver, Abnormality of the palate, Anteverted nares, Areflexia, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, Brushfield spots, Camptodactyly, Cataract, Cerebellar atrophy, Chorioretinal abnormality, Cleft palate, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Cubitus valgus, Death in infancy, Decreased liver function, Depressed nasal bridge, Developmental regression, Difficulty running, Dolichocephaly, Dysarthria, Dysmetria, EEG abnormality, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Generalized neonatal hypotonia, Global developmental delay, Hepatic failure, Hepatomegaly, Hepatosplenomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypertelorism, Hyporeflexia, Hypospadias, Intellectual disability, Intrahepatic biliary dysgenesis, Intrauterine growth retardation, Jaundice, Large fontanelles, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrogyria, Malabsorption, Metatarsus adductus, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Muscular hypotonia, Neonatal hypotonia, Nyctalopia, Nystagmus, Oculomotor apraxia, Opacification of the corneal stroma, Optic atrophy, Optic nerve dysplasia, Palpebral edema, Pigmentary retinopathy, Polymicrogyria, Poor suck, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Renal cortical microcysts, Renal cyst, Respiratory insufficiency, Rod-cone dystrophy, Round face, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Single transverse palmar crease, Skeletal dysplasia, Slow progression, Slow saccadic eye movements, Spasticity, Splenomegaly, Stippled chondral calcification, Strabismus, Talipes equinovarus, Tremor, Underdeveloped supraorbital ridges, Unsteady gait, Upslanted palpebral fissure, Variable expressivity, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
Glyc	FAR2P1	3.402063757	0			
Glyc	RP11.344E13.3	3.266320205	0			
Glyc	PKIB	3.062124637	0	Enzyme regulator	BrainSpLMD|5570	OMIM|606914
Glyc	PDK1	2.374338969	0	Enzyme: Phosphotransferase	BrainSpLMD|5163;Eurexp|euxassay_018748|axial skeleton, foregut-midgut junction, hindgut, incisor, mesenchyme, midgut, molar, orbito-sphenoid, rectum, stomach, thymus primordium, turbinate, urethra, ventricular layer, vibrissa	OMIM|602524
Glyc	BNIP3	2.332034876	0	Unclassified	BrainSpLMD|664;Eurexp|euxassay_004164|axial skeleton, clavicle, epithelium, mesenchyme, midgut, olfactory, stomach, ventricle	OMIM|603293
Glyc	NIPAL3	1.761432503	0	Unclassified	BrainSpLMD|57185;Eurexp|euxassay_001516|bladder, brain, calyces, cervical, cervico-thoracic, dorsal root ganglion, epithelium, foregut-midgut junction, glossopharyngeal IX, hindgut, lobe, lumen, lung, midgut, nucleus pulposus, oesophagus, olfactory, oral epithelium, pelvis, spinal cord, stomach, thoracic, trigeminal V, vagus X	
Glyc	ALDOA	1.637365652	0	Enzyme: Lyase;Enzyme: Aldolase	BrainSpLMD|226	OMIM|103850;HPO|226|Autosomal recessive inheritance, Cholecystitis, Cholelithiasis, Delayed puberty, Epicanthus, Jaundice, Low posterior hairline, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Ptosis, Short neck, Short stature, Splenomegaly
Glyc	GOLT1B	1.457501214	0	Unclassified	BrainSpLMD|51026;Eurexp|euxassay_004588|orbito-sphenoid	OMIM|615078
Glyc	ENO2	1.393409762	0	Enzyme: Hydratase	BrainSpLMD|2026;Eurexp|euxassay_018457|dorsal root ganglion, facial VII, mantle layer, trigeminal V, vagus X, ventral grey horn	OMIM|131360
Glyc	STC1	1.354400222	1.11E-16	Calcium binding protein	BrainSpLMD|6781;Eurexp|euxassay_003067|axial skeleton, calyces, cervical, cervico-thoracic, cortex, dorsal grey horn, genital tubercle, head mesenchyme, limb, mesenchyme, pelvis, tail, testis, thoracic, tongue, vertebral axis muscle system	OMIM|601185
Glyc	FAM162A	2.028068534	3.33E-16	Unclassified	BrainSpLMD|26355	OMIM|608017
Glyc	VEGFA	1.829133417	2.78E-15	Growth factor	BrainSpLMD|7422;BrainSpMouseDev|22096	OMIM|192240
Glyc	MIR7.3HG	3.064459807	5.33E-15			
Glyc	TXNIP	1.41675872	5.44E-15	Cell cycle control protein	BrainSpLMD|10628;Eurexp|euxassay_006657|meninges	OMIM|606599
Glyc	SRP54	1.128125016	8.66E-15	RNA binding protein	BrainSpLMD|6729;Eurexp|euxassay_013249|embryo	OMIM|604857
Glyc	CDKN1A	2.365463317	4.73E-14	Cell cycle control protein	BrainSpLMD|1026	OMIM|116899;COSMIC||bladder cancer;HPO|1026|Adrenocortical adenoma, Angiofibromas, Diarrhea, Elevated circulating parathyroid hormone level, Episodic abdominal pain, Esophagitis, Fasting hyperinsulinemia, Growth hormone excess, Hypercalcemia, Hyperinsulinemic hypoglycemia, Hyperparathyroidism, Insulinoma, Parathyroid adenoma, Parathyroid hyperplasia, Peptic ulcer, Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary prolactin cell adenoma, Subcutaneous lipoma, Thyroid adenoma, Zollinger-Ellison syndrome
Glyc	SCD	1.394306967	5.56E-14	Enzyme: Oxidoreductase	BrainSpLMD|6319;Eurexp|euxassay_012236|adrenal gland, axial skeleton, basal columns, cervico-thoracic, clavicle, dorsal root ganglion, ductus deferens, embryo, facial VII, glossopharyngeal IX, hindgut, incisor, larynx, lens, lobe, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, neural retina, nucleus pulposus, orbito-sphenoid, otic capsule, pancreas, petrous part, pharyngo-tympanic tube, pituitary, rectum, rib, skeletal muscle, stomach, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, turbinate, urethra, vagus X, vault of skull, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|604031
Glyc	HK2	2.073559309	8.75E-14	Enzyme: Phosphotransferase	BrainSpLMD|3099	OMIM|601125
Glyc	PGAM1	0.88121396	9.73E-14	Enzyme: Mutase		OMIM|172250
Glyc	TPI1	1.167651278	1.78E-13	Enzyme: Isomerase	BrainSpLMD|7167	OMIM|190450;HPO|7167|Abnormality of immune system physiology, Autosomal recessive inheritance, Central nervous system degeneration, Cholecystitis, Cholelithiasis, Chronic hemolytic anemia, Congestive heart failure, Diaphragmatic paralysis, Dystonia, Generalized hypotonia, Global developmental delay, Hemolytic anemia, Hyporeflexia, Jaundice, Kyphosis, Muscular hypotonia, Myopathy, Normochromic anemia, Normocytic anemia, Peripheral neuropathy, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Splenomegaly, Tremor, Unsteady gait
Glyc	PGK1	1.566555629	4.70E-13	Enzyme: Phosphotransferase	BrainSpLMD|5230;Eurexp|euxassay_018885|cerebral cortex, clavicle, diaphragm, dorsal root ganglion, facial VII, heart, incisor, lung, mandible, mantle layer, marginal layer, mesenchyme, metanephros, nasal cavity, nasal septum, nucleus pulposus, peripheral nervous system, physiological umbilical hernia, renal/urinary system, salivary gland, stomach, submandibular gland primordium, thymus primordium, tooth, trigeminal V, turbinate bones, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|311800;HPO|5230|Ataxia, Delayed speech and language development, Emotional lability, Exercise intolerance, Exercise-induced muscle cramps, Exercise-induced myoglobinuria, Intellectual disability, Migraine, Phenotypic variability, Reticulocytosis, Rhabdomyolysis, Seizures, X-linked recessive inheritance
Glyc	PCDHB2	0.827474888	4.91E-13	Adhesion molecule	BrainSpLMD|56133	OMIM|606328
Glyc	GPI	1.549604154	8.02E-13	Enzyme: Isomerase	BrainSpLMD|2821	OMIM|172400;HPO|2821|Ataxia, Autosomal recessive inheritance, Cholecystitis, Decreased glucosephosphate isomerase activity, Impaired neutrophil bactericidal activity, Intellectual disability, Jaundice, Muscle weakness, Nonspherocytic hemolytic anemia, Pigment gallstones, Sensory ataxia, Splenomegaly, Spontaneous hemolytic crises
Glyc	ARF1	1.123759608	3.84E-12	GTPase	BrainSpLMD|375	OMIM|103180
Glyc	OAZ1	0.848347846	4.56E-12	Unclassified	BrainSpLMD|4946	OMIM|601579
Glyc	RAB3A	1.723499018	4.96E-12	GTPase	BrainSpLMD|5864;BrainSpMouseDev|19102	OMIM|179490
Glyc	ENO1	1.575075466	6.04E-12	Enzyme: Hydratase	BrainSpLMD|2023	OMIM|172430
Glyc	SCG2	1.726483542	6.75E-12	Secreted polypeptide	BrainSpLMD|7857;Eurexp|euxassay_018265|adrenal gland, dorsal grey horn, mantle layer, marginal layer, olfactory, pancreas, pituitary, ventral grey horn;BrainSpMouseDev|20017	OMIM|118930
Glyc	PTPRN	2.070625618	9.92E-12	Receptor tyrosine phosphatase	BrainSpLMD|5798;Eurexp|euxassay_009628|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, ventral grey horn	OMIM|601773
Glyc	TPI1P1	0.920174789	1.33E-11			
Glyc	ZNF213.AS1	1.502925477	1.73E-11			
Glyc	DONSON	1.606192448	2.09E-11	Unclassified	BrainSpLMD|29980	OMIM|611428;HPO|29980|Abnormality of the hand, Autosomal recessive inheritance, Forearm undergrowth, Intrauterine growth retardation, Microcephaly, Micromelia
Glyc	KIAA0907	0.324795082	2.83E-11			
Glyc	FUT11	2.636451048	2.99E-11	Enzyme: Fucosyltransferase		OMIM|616932
Glyc	COG3	0.877443589	3.24E-11	Transport/cargo protein	BrainSpLMD|83548	OMIM|606975
Glyc	RP13.487P22.1	1.756857505	3.31E-11			
Glyc	SLC2A3	0.821942765	3.44E-11	Membrane transport protein	BrainSpLMD|6515	OMIM|138170;HPO|6515|Abnormality of movement, Abnormality of the voice, Behavioral abnormality, Cerebral cortical atrophy, Dementia, Developmental regression, EEG abnormality, Spasticity
Glyc	CNN2	1.452135127	3.52E-11	Cytoskeletal associated protein	BrainSpLMD|1265	OMIM|602373
Glyc	TUBAP2	0.396547481	3.55E-11			
Glyc	SNRPN	0.746599224	3.94E-11	Ribonucleoprotein	BrainSpLMD|6638;Eurexp|euxassay_015728|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, hindgut, incisor, midbrain, midgut, neural retina, olfactory, penis, respiratory, spinal cord, stomach, stroma, submandibular gland primordium, telencephalon, testis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	SFARI||Autism, 5 - Hypothesized but untested;OMIM|182279;HPO|6638|Abdominal obesity, Almond-shaped palpebral fissure, Attention deficit hyperactivity disorder, Autism, Childhood onset, Clinodactyly, Clitoral hypoplasia, Cutaneous photosensitivity, Decreased fetal movement, Decreased muscle mass, Delayed puberty, Delayed speech and language development, Dolichocephaly, Downturned corners of mouth, EEG abnormality, Failure to thrive in infancy, Generalized hypopigmentation, Generalized hypotonia, Global developmental delay, Growth hormone deficiency, Heterogeneous, Hyperinsulinemia, Hypermetropia, Hypogonadotrophic hypogonadism, Hypoplastic labia minora, Hypoventilation, Impaired ability to form peer relationships, Impaired pain sensation, Impaired use of nonverbal behaviors, Increased serum serotonin, Infertility, Inflexible adherence to routines or rituals, Intellectual disability, Kyphosis, Lack of spontaneous play, Micropenis, Motor delay, Multifactorial inheritance, Narrow forehead, Narrow nasal bridge, Narrow palm, Nasal speech, Obesity, Oligomenorrhea, Polyphagia, Poor gross motor coordination, Poor suck, Recurrent respiratory infections, Restrictive behavior, Scoliosis, Seizures, Short foot, Short palm, Short stature, Sleep apnea, Small hand, Specific learning disability, Sporadic, Stereotypy, Thin upper lip vermilion, Ventriculomegaly
Glyc	FGF14	1.375135361	4.20E-11	Growth factor	BrainSpLMD|2259;BrainSpMouseDev|13946	OMIM|601515;HPO|2259|Autosomal dominant inheritance, Dysmetric saccades, Head tremor, Heterogeneous, Impaired smooth pursuit, Intellectual disability, mild, Memory impairment, Sensory axonal neuropathy, Slow progression, Strabismus, Truncal ataxia
Glyc	PPP2R2C	2.642881743	5.41E-11	Serine/threonine phosphatase	BrainSpLMD|5522	OMIM|605997
Glyc	DAP3	0.598694425	5.82E-11	Ribosomal subunit	BrainSpLMD|7818	OMIM|602074
Glyc	KIAA1467	1.136717162	5.83E-11			
Glyc	PSMD10	1.092335231	6.18E-11	Regulatory/other subunit	BrainSpLMD|5716	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300880
Glyc	VWA5A	2.190674396	6.33E-11	Unclassified	BrainSpLMD|4013	OMIM|602929
Glyc	FICD	0.947244211	7.84E-11	Unclassified	BrainSpLMD|11153	
Glyc	PDE5A	0.250683822	1.06E-10	Enzyme: Phosphodiesterase	BrainSpLMD|8654;BrainSpMouseDev|88926	OMIM|603310
Glyc	TMSB4XP4	2.034171594	1.14E-10	-		
Glyc	DDIT4	2.471155507	1.21E-10	Unclassified	BrainSpLMD|54541	OMIM|607729
Glyc	FDFT1	1.1979978	1.50E-10	Enzyme: Synthase	BrainSpLMD|2222;Eurexp|euxassay_005703|calyces, cerebral cortex, cervical, cervico-thoracic, cochlear component, dorsal root ganglion, epithelium, facial VII, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, inferior, inner ear, lens, loop, mantle layer, mesenteric artery, midgut, molar, nucleus pulposus, retina, skeleton, stomach, superior, tegmentum, thoracic, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|184420
Glyc	ATP6V1A	0.64031847	1.51E-10	Transport/cargo protein	BrainSpLMD|523;Eurexp|euxassay_004518|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|607027;HPO|523|Abnormal apolipoprotein level, Abnormal isoelectric focusing of serum transferrin, Abnormal subcutaneous fat tissue distribution, Broad nasal tip, Carious teeth, Cerebellar hypoplasia, Coarse hair, Congenital hip dislocation, Dandy-Walker malformation, Decreased muscle mass, Delayed closure of the anterior fontanelle, Delayed speech and language development, Dementia, Downslanted palpebral fissures, Excessive wrinkled skin, Failure to thrive, Feeding difficulties, Fragmented elastic fibers in the dermis, Generalized joint laxity, Global developmental delay, High palate, Hypertelorism, Infantile muscular hypotonia, Inguinal hernia, Intellectual disability, profound, Intrauterine growth retardation, Lipodystrophy, Lissencephaly, Long philtrum, Low-set ears, Malar flattening, Motor delay, Pachygyria, Polymicrogyria, Poor speech, Postnatal growth retardation, Progressive microcephaly, Prominent nasolabial fold, Prominent veins on trunk, Psychomotor deterioration, Redundant neck skin, Seizures, Severe Myopia, Short nose, Short stature, Smooth philtrum, Sparse hair, Spasticity, Strabismus, Subretinal pigment epithelium hemorrhage, Thick cerebral cortex, Thick hair
Glyc	WDR54	1.392587047	1.88E-10	Unclassified	BrainSpLMD|84058;Eurexp|euxassay_007433|embryo	
Glyc	GOSR2	1.330994023	2.84E-10	Membrane transport protein	BrainSpLMD|9570	OMIM|604027;HPO|9570|Absence seizures, Areflexia, Ataxia, Atonic seizures, Autosomal recessive inheritance, Difficulty walking, Dysarthria, Elevated serum creatine phosphokinase, Myoclonus, Progressive, Scoliosis, Tremor
Glyc	SPINT2	1.407600304	3.07E-10	Protease inhibitor	BrainSpLMD|10653;Eurexp|euxassay_010770|bladder, calyces, choroid invagination, choroid plexus, cochlea, cornea, ductus deferens, ear, epidermis, epithelium, incisor, larynx, left lung, mantle layer, metanephros, midgut, molar, olfactory, oral epithelium, pancreas, pelvis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, respiratory, right lung, roof plate, stomach, submandibular gland primordium, thymus primordium, thyroid, urethra, utricle, ventricle, vibrissa, vomeronasal organ;BrainSpMouseDev|20495	OMIM|605124;HPO|10653|Abdominal distention, Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Choanal atresia, Corneal erosion, Hypertelorism, Polyhydramnios, Secretory diarrhea
Glyc	CTA.29F11.1	1.036930955	3.53E-10			
Glyc	TMEM59L	1.220587423	4.23E-10	Unclassified	BrainSpLMD|25789;Eurexp|euxassay_000050|nerve fibre layer, nervous system, telencephalon, trigeminal V	OMIM|617096
Glyc	FSIP2	2.051090205	5.39E-10		BrainSpLMD|401024	OMIM|615796
Glyc	RP11.434H6.7	0.99345147	8.43E-10			
Glyc	CELF4	1.040235277	8.55E-10	RNA binding protein	BrainSpLMD|56853;Eurexp|euxassay_009241|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|612679
Glyc	NAP1L3	0.858143263	8.82E-10	Unclassified	BrainSpLMD|4675;Eurexp|euxassay_002914|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|300117
Glyc	PFKFB4	1.513436182	9.31E-10	Enzyme: Phosphatase	BrainSpLMD|5210	OMIM|605320
Glyc	AC010226.4	2.462244814	1.08E-09			
Glyc	ETFB	1.207792388	1.17E-09	Enzyme: Oxidoreductase	BrainSpLMD|2109	SFARI||Autism, 3 - Suggestive evidence;OMIM|130410;HPO|2109|Abnormal facial shape, Abnormality of the genital system, Abnormality of the pinna, Autosomal recessive inheritance, Congenital cataract, Defective dehydrogenation of isovaleryl CoA and butyryl CoA, Depressed nasal bridge, Electron transfer flavoprotein-ubiquinone oxidoreductase defect, Ethylmalonic aciduria, Generalized aminoaciduria, Gliosis, Glutaric acidemia, Glutaric aciduria, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, High forehead, Hypoglycemia, Hypoglycemic coma, Jaundice, Macrocephaly, Muscle weakness, Muscular hypotonia, Nausea, Neonatal death, Pachygyria, Polycystic kidney dysplasia, Proximal tubulopathy, Pulmonary hypoplasia, Renal cortical cysts, Respiratory distress, Telecanthus, Vomiting, Wide anterior fontanel
Glyc	C1orf43	1.028265646	1.18E-09	Unclassified	BrainSpLMD|25912	OMIM|617428
Glyc	NDUFS2	0.576033906	1.25E-09	Enzyme: Oxidoreductase	BrainSpLMD|4720	OMIM|602985;HPO|4720|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Blurred vision, Central scotoma, Centrocecal scotoma, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Mitochondrial respiratory chain defects, Muscle weakness, Nystagmus, Optic atrophy, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Retinal telangiectasia, Retinal vascular tortuosity, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Slow decrease in visual acuity, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
Glyc	ZNF226	0.444876459	1.34E-09	Transcription factor	BrainSpLMD|7769	
Glyc	GABRG2	1.182510804	1.43E-09	Extracellular ligand gated channel	BrainSpLMD|2566;Eurexp|euxassay_014944|brain, central nervous system, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, spinal cord, stroma, telencephalon, thoracic, trigeminal V, vagus X;BrainSpMouseDev|14182	OMIM|137164;HPO|2566|Absence seizures, Ataxia, Atonic seizures, Autosomal dominant inheritance, Cutaneous photosensitivity, EEG abnormality, Febrile seizures, Focal clonic seizures, Focal seizures, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Muscular hypotonia, Neurodevelopmental delay, Obtundation status, Pschomotor retardation, Tremor, Variable expressivity
Glyc	NAA25	0.74874079	1.55E-09	Unclassified	BrainSpLMD|80018	OMIM|612755
Glyc	SLC38A1	0.316394433	1.57E-09	Membrane transport protein	BrainSpLMD|81539;Eurexp|euxassay_019706|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, stomach, submandibular gland primordium, testis, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|608490
Glyc	HSPA5	0.801649353	1.67E-09	Chaperone	BrainSpLMD|3309	OMIM|138120
Glyc	GOLGA2	1.027754561	1.69E-09	Structural protein	BrainSpLMD|2801;Eurexp|euxassay_010595|clavicle, mandible, maxilla, rib	OMIM|602580
Glyc	SEC61A1	2.070569966	1.85E-09	Integral membrane protein	BrainSpLMD|29927;Eurexp|euxassay_004866|clavicle, cranium, incisor, mandible, maxilla, rib, vibrissa	OMIM|609213;HPO|29927|Anemia, Autosomal dominant inheritance, Chronic kidney disease, Cognitive impairment, Focal segmental glomerulosclerosis, Gout, Intrauterine growth retardation, Nephropathy, Neutropenia, Progressive, Renal cyst, Short stature
Glyc	SLITRK5	0.661872774	1.87E-09	Integral membrane protein	BrainSpLMD|26050	SFARI||Autism, No category;OMIM|609680
Glyc	NEBL	1.815830118	1.97E-09	Cytoskeletal associated protein	BrainSpLMD|10529	OMIM|605491;HPO|10529|Dilated cardiomyopathy
Glyc	TRMT11	0.440143695	2.42E-09	Unclassified	BrainSpLMD|60487;Eurexp|euxassay_012365|submandibular gland primordium	
Glyc	NECAP1	0.917050686	2.75E-09	Unclassified	BrainSpLMD|25977	OMIM|611623;HPO|25977|Autosomal recessive inheritance, Decreased fetal movement, Epileptic encephalopathy, Feeding difficulties, Generalized hypotonia, Global developmental delay, Muscular hypotonia of the trunk
Glyc	ZNF204P	1.551671129	2.82E-09		BrainSpLMD|7754	OMIM|603282
Glyc	DICER1.AS1	1.365021647	2.85E-09			
Glyc	CNEP1R1	0.57191767	2.92E-09	Integral membrane protein	BrainSpLMD|255919	OMIM|616869
Glyc	ZRANB2	0.54709992	3.01E-09	RNA binding protein	BrainSpLMD|9406	OMIM|604347
Glyc	DAAM1	0.723721967	3.08E-09	Unclassified	BrainSpLMD|23002;BrainSpMouseDev|84026	OMIM|606626
Glyc	SRPRB	1.138270399	3.13E-09	GTPase	BrainSpLMD|58477;Eurexp|euxassay_010365|basioccipital bone, clavicle, femur, humerus, mandible, maxilla, naris, orbito-sphenoid, rib, sternum, tibia, turbinate bones	OMIM|616883
Glyc	GOLGA4	0.883949236	3.20E-09	Transport/cargo protein	BrainSpLMD|2803	OMIM|602509
Glyc	PRKCB	2.161238694	3.25E-09	Serine/threonine kinase	BrainSpLMD|5579;BrainSpMouseDev|18515	SFARI||Autism, 3 - Suggestive evidence;OMIM|176970;COSMIC||adult T-cell lymphoma-leukaemia
Glyc	GAN	0.810229088	3.63E-09	Cytoskeletal associated protein	BrainSpLMD|8139	SFARI||Autism, No category;OMIM|605379;HPO|8139|Abnormal hand morphology, Abnormal pyramidal signs, Abnormality of the Achilles tendon, Abnormality of the cerebellum, Abnormality of the hand, Areflexia, Areflexia of lower limbs, Autosomal recessive inheritance, CNS hypomyelination, Curly hair, Decreased number of peripheral myelinated nerve fibers, Difficulty walking, Diffuse axonal swelling, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Facial palsy, Generalized hypotonia, Hyperreflexia, Hyporeflexia of lower limbs, Intellectual disability, Joint hypermobility, Juvenile onset, Morphological abnormality of the pyramidal tract, Motor axonal neuropathy, Nystagmus, Pes cavus, Pes planus, Phenotypic variability, Pili canaliculi, Proximal muscle weakness, Scoliosis, Sensory axonal neuropathy, Slow progression, Spastic paraplegia, Spasticity, Steppage gait, Talipes equinovarus, Unsteady gait, Woolly hair
Glyc	MAML3	1.77842303	3.70E-09	DNA binding protein	BrainSpLMD|55534	OMIM|608991
Glyc	SEC23IP	0.546283013	6.06E-09	Transport/cargo protein	BrainSpLMD|11196	
Glyc	RAB33A	0.69491842	7.23E-09	GTPase	BrainSpLMD|9363	OMIM|300333
Glyc	PRDX5	0.857222497	7.54E-09	Enzyme: Oxidoreductase	BrainSpLMD|25824	OMIM|606583
Glyc	STARD4	1.198569419	9.13E-09	Unclassified	BrainSpLMD|134429;Eurexp|euxassay_008767|hindgut, midgut, rectum	OMIM|607049
Glyc	C10orf35	0.765997711	9.36E-09			
Glyc	GOLGA3	1.064369734	1.07E-08	Structural protein	BrainSpLMD|2802	OMIM|602581
Glyc	SLC3A1	1.627840191	1.09E-08	Transport/cargo protein	BrainSpLMD|6519	OMIM|104614;HPO|6519|Abnormality of the nervous system, Argininuria, Autosomal dominant inheritance, Autosomal recessive inheritance, Cystinuria, Decreased fetal movement, Depressed nasal bridge, Dolichocephaly, Epicanthus, Failure to thrive, Fatigue, Frontal bossing, Global developmental delay, Growth delay, Hyperlysinuria, Hypocalcemia, Hypogonadism, Intellectual disability, moderate, Lactic acidosis, Long eyelashes, Low-set, posteriorly rotated ears, Mitochondrial respiratory chain defects, Muscular hypotonia, Nasal speech, Nephrolithiasis, Ornithinuria, Polyphagia, Ptosis, Recurrent urinary tract infections, Renal insufficiency, Retrognathia, Seizures, Variable expressivity
Glyc	C1orf52	0.837519433	1.09E-08	Unclassified	BrainSpLMD|148423	
Glyc	ZNF330	1.189003206	1.24E-08	Unclassified	BrainSpLMD|27309	OMIM|609550
Glyc	INSIG2	1.569231755	1.31E-08	Unclassified	BrainSpLMD|51141;Eurexp|euxassay_008853|corpus striatum, mandible, maxilla	OMIM|608660
Glyc	PKM	1.031950321	1.38E-08	Enzyme: Phosphotransferase	BrainSpLMD|5315	OMIM|179050
Glyc	ATAD1	0.682115496	1.51E-08	ATPase	BrainSpLMD|84896;Eurexp|euxassay_001713|brain, cervico-thoracic, cortex, dorsal root ganglion, glossopharyngeal IX, spinal cord, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614452
Glyc	GAL3ST4	1.397854466	1.61E-08	Enzyme: Sulphotransferase	BrainSpLMD|79690	OMIM|608235
Glyc	GAPVD1	0.406264898	1.71E-08	Unclassified	BrainSpLMD|26130;Eurexp|euxassay_000318|central nervous system, dorsal root ganglion, facial VII, glossopharyngeal IX, inner ear, metanephros, nervous system, nucleus pulposus, spinal cord, telencephalon, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611714
Glyc	CNTNAP2	0.780501204	1.73E-08	Adhesion molecule	BrainSpLMD|26047;Eurexp|euxassay_011473|facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V	SFARI||Autism, 2 - Strong candidate;OMIM|604569;COSMIC||glioma, melanoma;HPO|26047|Cortical dysplasia, Delayed gross motor development, Hyperactivity, Impaired social interactions, Intellectual disability, Progressive language deterioration, Reduced tendon reflexes, Seizures
Glyc	GP1BA	0.796327735	1.91E-08	Cell surface receptor	BrainSpLMD|2811	OMIM|606672;HPO|2811|Abnormal bleeding, Abnormality of abdomen morphology, Autosomal dominant inheritance, Autosomal recessive inheritance, Bruising susceptibility, Epistaxis, Gingival bleeding, Hemolytic anemia, Increased mean platelet volume, Intermittent thrombocytopenia, Menorrhagia, Petechiae, Prolonged bleeding after dental extraction, Prolonged bleeding time, Purpura, Splenomegaly, Stomatocytosis, Thrombocytopenia
Glyc	HM13	1.411142368	1.94E-08	Protease	BrainSpLMD|81502	OMIM|607106
Glyc	ERO1L	0.978653975	1.98E-08			
Glyc	FASTKD2	0.768459897	2.16E-08	Unclassified	BrainSpLMD|22868;Eurexp|euxassay_008173|adrenal gland, cortex, hindgut, lobe, lung, midgut, pancreas, rectum, submandibular gland primordium, testis, thymus primordium, urethra, ventricle, vibrissa	OMIM|612322;HPO|22868|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
Glyc	CLEC4A	1.851080293	2.51E-08	Cell surface receptor	BrainSpLMD|50856	OMIM|605306
Glyc	PJA2	1.00810456	2.54E-08	Ubiquitin proteasome system protein	BrainSpLMD|9867;Eurexp|euxassay_000283|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	
Glyc	DNAJB9	0.953399853	2.56E-08	Chaperone	BrainSpLMD|4189	OMIM|602634
Glyc	ACSL4	0.99799278	2.57E-08	Enzyme: Ligase	BrainSpLMD|2182;Eurexp|euxassay_018901|adrenal gland, basal plate, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, ductus deferens, facial VII, glossopharyngeal IX, hindbrain, liver, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midbrain, midgut, neural retina, nuclear layer, olfactory, pancreas, skeletal muscle, spinal cord, stomach, telencephalon, thoracic, thymus primordium, trigeminal V, vagus X, ventral grey horn, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|300157;HPO|2182|Abnormality of the hair, Anteverted nares, Anxiety, Depressed nasal bridge, Downslanted palpebral fissures, Elliptocytosis, Glomerulopathy, Hearing impairment, Hyperreflexia, Intellectual disability, Intellectual disability, severe, Malar flattening, Microscopic hematuria, Muscular hypotonia, Proteinuria, Renal insufficiency, Tapered finger, Thick vermilion border, Thin vermilion border, X-linked dominant inheritance, X-linked inheritance
Glyc	MT.TP	1.03883079	2.68E-08			
Glyc	MTHFD2	1.286071657	2.77E-08	Enzyme: Dehydrogenase	BrainSpLMD|10797	OMIM|604887
Glyc	PNMAL1	1.098576791	2.95E-08			
Glyc	IER3IP1	0.9291144	3.07E-08	Unclassified	BrainSpLMD|51124;Eurexp|euxassay_011577|brain, clavicle, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, left lung, metanephros, olfactory, retina, right lung, spinal cord, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|609382;HPO|51124|Anteverted nares, Autosomal recessive inheritance, Brisk reflexes, Congenital onset, Cortical gyral simplification, Delayed myelination, Diabetes mellitus, Feeding difficulties, Full cheeks, Generalized myoclonic seizures, Global developmental delay, High palate, Hypoplasia of the corpus callosum, Hypsarrhythmia, Intellectual disability, profound, Jaundice, Microcephaly, Muscular hypotonia of the trunk, Narrow forehead, Neonatal hypotonia, Ptosis, Recurrent respiratory infections, Tented upper lip vermilion
Glyc	MIAT	1.045249711	3.14E-08			OMIM|611082
Glyc	COPB1	0.883537796	3.67E-08	Transport/cargo protein	BrainSpLMD|1315;Eurexp|euxassay_012132|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, rib, tibia, turbinate bones, vault of skull	OMIM|600959
Glyc	RP11.490H24.5	0.351539173	3.95E-08			
Glyc	SLC6A15	1.129880691	4.01E-08	Membrane transport protein	BrainSpLMD|55117;Eurexp|euxassay_012147|choroid invagination, choroid plexus, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, midgut, olfactory, roof plate, stomach, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|607971
Glyc	SGK494	0.55601477	4.58E-08			
Glyc	EIF4H	0.645105268	4.59E-08	Translation regulatory protein	BrainSpLMD|7458	OMIM|603431
Glyc	SLC25A36	0.98957968	4.65E-08	Transport/cargo protein	BrainSpLMD|55186	OMIM|616149
Glyc	RMND5A	1.188366293	4.70E-08	Cytoskeletal protein		
Glyc	SEC11C	0.947137618	4.74E-08	Aminopeptidase	BrainSpLMD|90701;Eurexp|euxassay_003588|clavicle, olfactory, orbito-sphenoid, submandibular gland primordium, thymus primordium, trachea	
Glyc	AC138035.2	0.789059288	4.79E-08			
Glyc	SEC31A	0.806790315	4.85E-08	Transport/cargo protein	BrainSpLMD|22872	OMIM|610257
Glyc	KDELR2	1.39675858	4.87E-08	Transport/cargo protein	BrainSpLMD|11014;Eurexp|euxassay_004155|axial skeleton, cervical region, clavicle, cranium, femur, fibula, footplate, handplate, humerus, leg, lumbar region, mandible, orbito-sphenoid, otic capsule, palatal shelf, radius, rib, sacral region, sternum, thoracic region, tibia, turbinate bones, ulna	OMIM|609024
Glyc	HIATL1	1.46497434	4.95E-08			
Glyc	TBP	1.047592252	5.00E-08	Transcription factor	BrainSpLMD|6908	OMIM|600075;HPO|6908|Abnormal pyramidal signs, Aggressive behavior, Apraxia, Ataxia, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, Behavioral abnormality, Blepharospasm, Bradykinesia, Broad-based gait, Cerebellar Purkinje layer atrophy, Cerebellar atrophy, Chorea, Confusion, Depressivity, Diffuse cerebral atrophy, Dysarthria, Dysmetria, Dysphagia, Dystonia, Frontal lobe dementia, Frontal release signs, Gait ataxia, Gait disturbance, Gaze-evoked nystagmus, Generalized cerebral atrophy/hypoplasia, Gliosis, Hallucinations, Impaired pursuit initiation and maintenance, Intention tremor, Lack of insight, Limb ataxia, Mental deterioration, Mutism, Myoclonus, Neuronal loss in central nervous system, Paranoia, Parkinsonism, Positive Romberg sign, Progressive, Rigidity, Seizures, Spasticity, Torticollis, Urinary incontinence, Writer's cramp
Glyc	RP4.717I23.3	1.032818628	5.15E-08			
Glyc	SENP5	0.858673658	5.21E-08	Protease	BrainSpLMD|205564;Eurexp|euxassay_002886|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X	OMIM|612845
Glyc	FBXO44	0.76543675	5.41E-08	Ubiquitin proteasome system protein	BrainSpLMD|93611	OMIM|609111
Glyc	CTB.119C2.1	0.527260495	5.69E-08			
Glyc	LINC00969	1.054644176	5.76E-08			
Glyc	TMEM263	0.666510844	5.95E-08	Integral membrane protein	BrainSpLMD|90488	
Glyc	UFM1	0.636438122	5.96E-08	Unclassified	BrainSpLMD|51569	OMIM|610553
Glyc	PARD6B	1.001719443	6.03E-08	Adapter molecule	BrainSpLMD|84612	OMIM|608975
Glyc	GUK1	1.121945845	6.16E-08	Enzyme: Phosphotransferase	BrainSpLMD|2987	OMIM|139270
Glyc	TMEM50B	0.580631946	6.35E-08	Integral membrane protein	BrainSpLMD|757;Eurexp|euxassay_012115|Meckel's cartilage, arytenoid, axial skeleton, basioccipital bone, basisphenoid bone, carpus, cricoid, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, hyoid bone, mantle layer, marginal layer, metacarpus, naris, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rest of mesenchyme, rib, scapula, sternum, submandibular gland primordium, thyroid, tibia, trigeminal V, turbinate bones, ulna, vagus X, vault of skull, ventricular layer, vestibulocochlear VIII	
Glyc	ZMAT3	1.714087622	6.68E-08	DNA binding protein	BrainSpLMD|64393	OMIM|606452
Glyc	KDELR1	1.312159469	6.78E-08	Unclassified	BrainSpLMD|10945	OMIM|131235
Glyc	VDAC1	0.928287976	7.24E-08	Voltage gated channel	BrainSpLMD|7416	OMIM|604492
Glyc	RP11.499P20.2	0.766826854	7.72E-08			
Glyc	SLC9A6	1.311767286	8.37E-08	Transport/cargo protein	BrainSpLMD|10479;Eurexp|euxassay_012153|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	SFARI||Autism, No category;OMIM|300231;HPO|10479|Abnormality of the foot, Absent speech, Adducted thumb, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Autism, Bowel incontinence, Cachexia, Cerebellar atrophy, Cerebral cortical atrophy, Conspicuously happy disposition, Decreased body weight, Developmental regression, Drooling, Dysphagia, Dystonia, Feeding difficulties in infancy, Flexion contracture, Gait ataxia, Gastroesophageal reflux, Generalized hypotonia, Generalized seizures, Global developmental delay, Happy demeanor, Hyperkinesis, Inappropriate laughter, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Long face, Long nose, Loss of ability to walk in first decade, Macrotia, Mandibular prognathia, Microcephaly, Mutism, Narrow chest, Narrow face, Neuronal loss in central nervous system, Nystagmus, Open mouth, Ophthalmoplegia, Pectus excavatum, Photosensitive tonic-clonic seizures, Severe global developmental delay, Skeletal muscle atrophy, Sleep disturbance, Slender finger, Stereotypy, Strabismus, Thick eyebrow, Truncal ataxia, Urinary incontinence, Ventriculomegaly, X-linked dominant inheritance
Glyc	METTL5	0.819144321	8.72E-08	Unclassified	BrainSpLMD|29081	
Glyc	RUFY3	0.251276286	8.97E-08	Unclassified	BrainSpLMD|22902	OMIM|611194
Glyc	RAB1A	0.465967389	1.00E-07	GTPase	BrainSpLMD|5861	OMIM|179508
Glyc	PFKP	1.604407745	1.02E-07	Enzyme: Phosphotransferase	BrainSpLMD|5214;Eurexp|euxassay_018981|aorta, atrium, axial skeleton, brain, cervical, cervico-thoracic, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, incisor, mantle layer, midgut, molar, neural retina, spinal cord, stomach, thoracic, trigeminal V, vagus X, ventral grey horn, ventricle, vestibulocochlear VIII, vibrissa	OMIM|171840
Glyc	KRT10	1.200332799	1.03E-07	Structural protein	BrainSpLMD|3858;Eurexp|euxassay_011016|epidermis, epithelium, fundus region, incisor, larynx, molar, naris, oesophagus, olfactory, oral epithelium, pharyngo-tympanic tube, rectum, stomach, submandibular gland primordium, thymus primordium, trachea, urethra, vibrissa	OMIM|148080;HPO|3858|Abnormal blistering of the skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital bullous ichthyosiform erythroderma, Cutaneous photosensitivity, Epidermal acanthosis, Erythema, Erythroderma, Palmoplantar hyperkeratosis, Poor appetite, Scaling skin, Weight loss
Glyc	NR6A1	2.098615047	1.06E-07	Nuclear receptor	BrainSpLMD|2649;BrainSpMouseDev|14312	OMIM|602778
Glyc	ZNF160	1.132969613	1.08E-07	DNA binding protein	BrainSpLMD|90338	OMIM|600398
Glyc	COQ10B	0.997332358	1.09E-07	Unclassified	BrainSpLMD|80219	
Glyc	NRP2	1.565464287	1.09E-07	Cell surface receptor	BrainSpLMD|8828;Eurexp|euxassay_009620|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V;BrainSpMouseDev|17954	SFARI||Autism, 4 - Minimal evidence;OMIM|602070
Glyc	STX1A	2.259099008	1.17E-07	Membrane transport protein	BrainSpLMD|6804;BrainSpMouseDev|20669	SFARI||Autism, No category;OMIM|186590;HPO|6804|Biliary cirrhosis, Decreased antibody level in blood, Exocrine pancreatic insufficiency, Immunodeficiency, Malabsorption, Pulmonary fibrosis, Recurrent respiratory infections
Glyc	MYO6	1.052923871	1.21E-07	Motor protein	BrainSpLMD|4646	OMIM|600970;HPO|4646|Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment
Glyc	XPOT	0.850394974	1.21E-07	Transport/cargo protein	BrainSpLMD|11260	OMIM|603180
Glyc	CTC.444N24.11	0.288352858	1.27E-07			
Glyc	DNHD1	1.293885715	1.41E-07	Unclassified	BrainSpLMD|144132	OMIM|617277
Glyc	PDRG1	0.847581718	1.58E-07	Transcription regulatory protein	BrainSpLMD|81572	OMIM|610789
Glyc	DNAJC25	1.128076423	1.62E-07	Unclassified	BrainSpLMD|548645	
Glyc	MRPL39	0.787296776	1.69E-07	Ribosomal subunit	BrainSpLMD|54148	OMIM|611845
Glyc	SUMF2	1.271497207	1.74E-07	Unclassified	BrainSpLMD|25870	OMIM|607940
Glyc	COPB2	0.832985265	1.74E-07	Transport/cargo protein	BrainSpLMD|9276;Eurexp|euxassay_003332|cervical, cervico-thoracic, glomeruli, incisor, left, marginal layer, olfactory, right, submandibular gland primordium, testis, thoracic, thymus primordium, ventricular layer, vibrissa	OMIM|606990
Glyc	ACTR1B	1.63882536	1.76E-07	Cytoskeletal protein	BrainSpLMD|10120;Eurexp|euxassay_014307|olfactory, vomeronasal organ	OMIM|605144
Glyc	ZNF333	0.506982861	1.76E-07	DNA binding protein	BrainSpLMD|84449	OMIM|611811
Glyc	CEP290	0.368213501	1.78E-07		BrainSpLMD|80184	SFARI||Autism, No category;OMIM|610142;HPO|80184|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the nervous system, Abnormality of the optic disc, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar vermis, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Atrial septal defect, Autistic behavior, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Blindness, Cataract, Central apnea, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cleft palate, Congenital blindness, Congenital hepatic fibrosis, Cryptorchidism, Dandy-Walker malformation, Depressed nasal ridge, Encephalocele, Episodic tachypnea, Full cheeks, Generalized hypotonia, Global developmental delay, Hemiplegia/hemiparesis, Hypertelorism, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the ovary, Hyposmia, Impaired renal concentrating ability, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Keratoconus, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nephropathy, Nystagmus, Obesity, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Pigmentary retinopathy, Postaxial foot polydactyly, Postaxial hand polydactyly, Premature ovarian insufficiency, Progressive visual loss, Ptosis, Reduced visual acuity, Renal cortical cysts, Renal cyst, Retinal coloboma, Retinal dystrophy, Rod-cone dystrophy, Sclerocornea, Seizures, Severe visual impairment, Short stature, Sloping forehead, Stage 5 chronic kidney disease, Tachypnea, Talipes, Tapetoretinal degeneration, Thickened superior cerebellar peduncle, Ventricular septal defect, Visual impairment
Glyc	KCNQ1OT1	0.74356702	2.01E-07			OMIM|604115;HPO|10984|Abnormality of the dentition, Accelerated skeletal maturation, Adrenocortical carcinoma, Adrenocortical cytomegaly, Asymmetry of the thorax, Autosomal dominant inheritance, Cardiomegaly, Cardiomyopathy, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Diastasis recti, Enlarged kidney, Facial asymmetry, Gonadoblastoma, Hemihypertrophy, Hepatoblastoma, Hepatomegaly, Intellectual disability, mild, Large fontanelles, Macroglossia, Midface retrusion, Neonatal hypoglycemia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Omphalocele, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Posterior helix pit, Prominent metopic ridge, Prominent occiput, Proptosis, Renal cortical cysts, Scoliosis, Vesicoureteral reflux
Glyc	CLCC1	0.564713192	2.03E-07	Ion channel	BrainSpLMD|23155	OMIM|617539
Glyc	RNF7	1.0349803	2.05E-07	Enzyme: Ligase	BrainSpLMD|9616	OMIM|603863
Glyc	PI4KA	0.744163049	2.10E-07	Lipid Kinase	BrainSpLMD|5297	OMIM|600286;HPO|5297|Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Cerebellar dysplasia, Cerebellar hypoplasia, Congenital onset, Dolichocephaly, Externally rotated hips, Micrognathia, Overlapping fingers, Talipes equinovarus
Glyc	DNAJC6	1.027002644	2.13E-07	Chaperone	BrainSpLMD|9829;Eurexp|euxassay_006348|cervical, cervico-thoracic, dorsal root ganglion, epithelium, facial VII, genital tubercle, glossopharyngeal IX, mantle layer, marginal layer, midgut, neural retina, olfactory, stomach, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608375;HPO|9829|Abnormal pyramidal signs, Akinesia, Autosomal recessive inheritance, Bradykinesia, Brain atrophy, Cognitive impairment, Dysarthria, Dystonia, Fatigue, Gait ataxia, Hallucinations, Hypomimic face, Hyporeflexia, Inability to walk, Intellectual disability, Leg muscle stiffness, Parkinsonism, Pes cavus, Postural instability, Rapidly progressive, Resting tremor, Rigidity, Scoliosis, Seizures, Short stepped shuffling gait, Shuffling gait, Slow progression, Slowed slurred speech, Spasticity, Tremor, Weak voice
Glyc	USO1	0.496342618	2.26E-07	Transport/cargo protein	BrainSpLMD|8615	OMIM|603344
Glyc	RLF	0.668149844	2.26E-07	Transcription factor	BrainSpLMD|6018	OMIM|180610
Glyc	ZNF483	1.429189824	2.42E-07	Transcription regulatory protein	BrainSpLMD|158399	
Glyc	TRAPPC6B	0.939503034	2.47E-07	Unclassified	BrainSpLMD|122553;Eurexp|euxassay_006829|cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|610397
Glyc	TUBG1	0.51454246	2.54E-07	Cytoskeletal protein	BrainSpLMD|7283	OMIM|191135;HPO|7283|Autosomal dominant inheritance, Cortical dysplasia, Global developmental delay, Microcephaly, Seizures, Variable expressivity
Glyc	SFXN1	0.829372927	2.56E-07	Transport/cargo protein	BrainSpLMD|94081;Eurexp|euxassay_006928|embryo	OMIM|615569
Glyc	FAM157C	0.885104248	2.57E-07			
Glyc	MAP9	0.8537343	2.58E-07	Unclassified	BrainSpLMD|79884	OMIM|610070
Glyc	PPA2	0.298504758	2.71E-07	Enzyme: Phosphatase	BrainSpLMD|27068	OMIM|609988;HPO|27068|Autosomal recessive inheritance, Bradycardia, Congestive heart failure, Myocardial fibrosis, Myocarditis
Glyc	EIF2S2P4	0.916329171	2.97E-07			
Glyc	MAP3K9	1.198267579	3.03E-07	Serine/threonine kinase	BrainSpLMD|4293	OMIM|600136
Glyc	HSDL1	0.75856205	3.07E-07	Enzyme: Dehydrogenase	BrainSpLMD|83693	
Glyc	NUP210L	1.452290657	3.22E-07	Unclassified	BrainSpLMD|91181	
Glyc	EXOSC3	1.324958391	3.42E-07	Ribonuclease	BrainSpLMD|51010	OMIM|606489;HPO|51010|Abnormality of the foot, Absent speech, Autosomal recessive inheritance, Cerebellar atrophy, Cerebellar cyst, Cerebral atrophy, Congenital onset, Feeding difficulties, Flexion contracture, Generalized hypotonia, Global developmental delay, Growth delay, Hip dislocation, Hyperreflexia, Muscular hypotonia of the trunk, Nystagmus, Oculomotor apraxia, Poor head control, Progressive microcephaly, Respiratory insufficiency, Skeletal muscle atrophy, Spasticity, Strabismus, Tongue atrophy, Tongue fasciculations, Variable expressivity
Glyc	RP4.669L17.10	0.637019146	3.49E-07			
Glyc	ZNF382	0.969747183	3.85E-07	Transcription regulatory protein	BrainSpLMD|84911	OMIM|609516
Glyc	GUCY1B3	1.466516851	3.87E-07			
Glyc	ST3GAL5	1.291362945	3.95E-07	Enzyme: Sialyltransferase	BrainSpLMD|8869	OMIM|604402;HPO|8869|Absent speech, Autosomal recessive inheritance, Choreoathetosis, Cortical visual impairment, Developmental regression, Developmental stagnation at onset of seizures, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Generalized tonic-clonic seizures, Global brain atrophy, Global developmental delay, Hypermelanotic macule, Hyporeflexia of upper limbs, Irritability, Lower limb hyperreflexia, Myoclonus, Optic atrophy, Status epilepticus, Visual loss, Vomiting
Glyc	OLFM1	0.368551433	4.09E-07	Unclassified	BrainSpLMD|10439;Eurexp|euxassay_003026|axial skeleton, cervical, cervico-thoracic, diaphragm, diencephalon, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, hindbrain, incisor, limb, mantle layer, marginal layer, midbrain, molar, neural retina, nucleus pulposus, olfactory, pectoral girdle and thoracic body wall, spinal cord, stroma, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|605366
Glyc	PEG3	1.430407692	4.61E-07	Transcription factor	BrainSpLMD|5178	OMIM|601483
Glyc	P4HA1	1.459863417	4.94E-07	Enzyme: Hydroxylase	BrainSpLMD|5033;Eurexp|euxassay_000584|Meckel's cartilage, axial skeleton, chondrocranium, incisor, limb, molar, nasal capsule, pectoral girdle and thoracic body wall	OMIM|176710
Glyc	C18orf25	0.707680991	5.11E-07	Unclassified	BrainSpLMD|147339	
Glyc	MT.ND1	0.526598054	5.43E-07			
Glyc	BSG	1.074333223	5.49E-07	Cell surface receptor	BrainSpLMD|682	OMIM|109480
Glyc	HIF3A	0.940395834	5.78E-07	Transcription factor	BrainSpLMD|64344;BrainSpMouseDev|32897	OMIM|609976
Glyc	ZRSR2	1.542891375	5.83E-07	RNA binding protein	BrainSpLMD|8233	OMIM|300028;COSMIC||MDS, CLL
Glyc	TTC17	0.867631446	6.22E-07	Unclassified	BrainSpLMD|55761	
Glyc	RAB3B	1.529681625	6.31E-07	GTPase	BrainSpLMD|5865;BrainSpMouseDev|45749	OMIM|179510
Glyc	CCDC82	0.629601551	6.34E-07	Unclassified	BrainSpLMD|79780	
Glyc	UBA6	0.332111706	6.42E-07	Ubiquitin proteasome system protein	BrainSpLMD|55236	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611361
Glyc	MDH1	0.85742022	6.43E-07	Enzyme: Dehydrogenase	BrainSpLMD|4190	OMIM|154200
Glyc	C11orf1	1.192907023	6.46E-07	Unclassified	BrainSpLMD|64776	
Glyc	LPIN1	0.940355786	6.82E-07	Unclassified	BrainSpLMD|23175;Eurexp|euxassay_013747|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, incisor, liver, mantle layer, marginal layer, molar, olfactory, spinal cord, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|605518;HPO|23175|Acute kidney injury, Acute rhabdomyolysis, Areflexia, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Fever, Hyperkalemia, Hyporeflexia, Muscle weakness, Myalgia, Myoglobinuria
Glyc	IARS	0.542687477	6.86E-07	Enzyme: Ligase	BrainSpLMD|3376;Eurexp|euxassay_001939|Meckel's cartilage, cervical, cervico-thoracic, cortex, dorsal root ganglion, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	OMIM|600709;HPO|3376|Autosomal recessive inheritance, Congenital onset, Failure to thrive, Generalized hypotonia, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Microcephaly, Postnatal growth retardation, Variable expressivity
Glyc	PREPL	0.836718566	6.93E-07	Serine protease	BrainSpLMD|9581;Eurexp|euxassay_004469|bladder, brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, retina, spinal cord, thoracic, tongue, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII	OMIM|609557;HPO|9581|Autosomal recessive inheritance, Congenital onset, Cystinuria, Decreased fetal movement, Depressed nasal bridge, Dolichocephaly, Epicanthus, Failure to thrive, Fatigue, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, Growth delay, Growth hormone deficiency, Hypocalcemia, Hypogonadism, Intellectual disability, moderate, Lactic acidosis, Long eyelashes, Low-set, posteriorly rotated ears, Mitochondrial respiratory chain defects, Motor delay, Muscular hypotonia, Nasal speech, Nephrolithiasis, Polyphagia, Ptosis, Retrognathia, Seizures, Short stature, Tented upper lip vermilion
Glyc	TRMT1L	0.607743268	7.05E-07	DNA binding protein	BrainSpLMD|81627	OMIM|611673
Glyc	XPNPEP3	0.814922222	7.10E-07	Unclassified	BrainSpLMD|63929	OMIM|613553;HPO|63929|Autosomal recessive inheritance, Kinetic tremor, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Tubular atrophy, Tubular basement membrane disintegration
Glyc	KPNA6	0.415443151	7.55E-07	Adapter molecule	BrainSpLMD|23633	OMIM|610563
Glyc	DACT3	1.983942554	7.70E-07	Unclassified	BrainSpLMD|147906	OMIM|611112
Glyc	TM9SF2	0.488597911	7.89E-07	Integral membrane protein	BrainSpLMD|9375;Eurexp|euxassay_008168|basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, left, midgut, orbito-sphenoid, otic capsule, petrous part, rib, right, turbinate	OMIM|604678
Glyc	RP11.887P2.3	0.562662018	8.26E-07			
Glyc	NAPG	0.68316315	8.69E-07	Membrane transport protein	BrainSpLMD|8774	OMIM|603216
Glyc	SCAMP1	0.627035574	8.70E-07	Membrane transport protein	BrainSpLMD|9522	OMIM|606911
Glyc	EBP	1.517228053	8.97E-07	Enzyme: Isomerase	BrainSpLMD|10682;Eurexp|euxassay_010690|lobe, mandible, maxilla, orbito-sphenoid	OMIM|300205;HPO|10682|2-3 toe syndactyly, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the pinna, Abnormality of the thorax, Alopecia, Aortic valve stenosis, Bilateral talipes equinovarus, Cataract, Concave nasal ridge, Congenital ichthyosiform erythroderma, Congenital onset, Cryptorchidism, Dandy-Walker malformation, Downslanted palpebral fissures, Edema, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol, Epicanthus, Epiphyseal stippling, Erythema, Erythroderma, Failure to thrive, Flat face, Frontal bossing, Generalized hypotonia, Glaucoma, Global developmental delay, Hearing impairment, Hemiatrophy, Hemivertebrae, High palate, Hydrocephalus, Hydronephrosis, Hyperactivity, Ichthyosis, Intellectual disability, Intellectual disability, moderate, Joint dislocation, Kyphosis, Long fingers, Low-set ears, Malar flattening, Microphthalmia, Microretrognathia, Midface retrusion, Nystagmus, Optic atrophy, Overlapping fingers, Overlapping toe, Patellar dislocation, Phenotypic variability, Polydactyly, Polyhydramnios, Postnatal growth retardation, Prominent nasal bridge, Ptosis, Punctate vertebral calcifications, Scarring alopecia of scalp, Scoliosis, Seizures, Short neck, Short stature, Sparse and thin eyebrow, Sparse eyelashes, Stippled calcification in carpal bones, Tarsal stippling, Tracheal calcification, Tracheal stenosis, Variable expressivity, X-linked dominant inheritance, X-linked recessive inheritance
Glyc	HAX1	0.683057971	9.10E-07	Unclassified	BrainSpLMD|10456	OMIM|605998;HPO|10456|Autosomal recessive inheritance, Infantile onset, Leukemia, Myelodysplasia, Neutropenia, Recurrent bacterial infections
Glyc	HERC4	0.375687491	9.53E-07	Ubiquitin proteasome system protein	BrainSpLMD|26091	OMIM|609248
Glyc	MSMO1	0.672171486	9.67E-07	Unclassified	BrainSpLMD|6307;Eurexp|euxassay_000744|Meckel's cartilage, adrenal gland, calyces, chondrocranium, dorsal root ganglion, facial VII, foregut-midgut junction, hindgut, incisor, inferior, lobe, mesenchyme, midgut, molar, olfactory, stomach, superior, testis, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|607545;HPO|6307|Arthralgia, Autosomal recessive inheritance, Blepharitis, Congenital cataract, Decreased circulating low-density lipoprotein levels, Delayed puberty, Delayed skeletal maturation, Failure to thrive, Global developmental delay, Hypocholesterolemia, Ichthyosis, Intellectual disability, mild, Microcephaly, Psoriasiform dermatitis, Short stature
Glyc	TFCP2	0.398222592	9.69E-07	Transcription factor	BrainSpLMD|7024;BrainSpMouseDev|21183	OMIM|189889
Glyc	SCOC	0.511068014	1.06E-06	Unclassified	BrainSpLMD|60592;Eurexp|euxassay_002885|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X	
Glyc	MORF4L2	0.618724998	1.18E-06	Transcription regulatory protein	BrainSpLMD|9643;Eurexp|euxassay_007035|embryo	OMIM|300409
Glyc	GOLPH3L	1.190836799	1.21E-06	Unclassified	BrainSpLMD|55204	OMIM|612208
Glyc	RP11.33B1.1	0.464028312	1.23E-06			
Glyc	NRBF2	0.715647296	1.25E-06	Transcription regulatory protein	BrainSpLMD|29982	OMIM|616477
Glyc	MRPL42	0.458390871	1.25E-06	Ribosomal subunit	BrainSpLMD|28977	OMIM|611847
Glyc	FAM63B	0.506134746	1.39E-06			
Glyc	TIMM10B	1.130730608	1.50E-06	Membrane transport protein	BrainSpLMD|26515	OMIM|607388
Glyc	YIPF5	0.71673231	1.50E-06	Unclassified	BrainSpLMD|81555;Eurexp|euxassay_002709|Meckel's cartilage, orbito-sphenoid	OMIM|611483
Glyc	EPS15	0.759008958	1.53E-06	Calcium binding protein	BrainSpLMD|2060;Eurexp|euxassay_005655|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|600051;COSMIC||ALL
Glyc	EPM2AIP1	0.506947655	1.56E-06	Unclassified	BrainSpLMD|9852	OMIM|607911
Glyc	SNAP25	0.828645137	1.65E-06	Membrane transport protein	BrainSpLMD|6616;Eurexp|euxassay_015720|cervical, cervico-thoracic, dorsal root ganglion, extrinsic ocular muscle, facial VII, forebrain, glossopharyngeal IX, hindbrain, lip, midbrain, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|600322;HPO|6616|Areflexia, Ataxia, Autosomal dominant inheritance, Congenital onset, Decreased fetal movement, Difficulty walking, Dysarthria, Easy fatigability, Flexion contracture, Global developmental delay, Muscle weakness, Poor speech, Ptosis, Respiratory insufficiency
Glyc	ALG13	1.211553769	1.66E-06	Unclassified	BrainSpLMD|79868	OMIM|300776;HPO|79868|Abnormality of extrapyramidal motor function, Anteverted nares, Cerebral atrophy, Delayed myelination, Generalized hypotonia, Global developmental delay, Hepatomegaly, Horizontal nystagmus, Hypertelorism, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, Intellectual disability, severe, Long philtrum, Low-set ears, Microcephaly, Optic atrophy, Poor eye contact, Recurrent infections, Seizures, Type I transferrin isoform profile, X-linked dominant inheritance, X-linked recessive inheritance
Glyc	TENM1	0.732731204	1.69E-06	Integral membrane protein	BrainSpLMD|10178	OMIM|300588
Glyc	SLC30A7	0.660780593	1.70E-06	Membrane transport protein	BrainSpLMD|148867	OMIM|611149
Glyc	PCLO	0.286162632	1.74E-06	Cytoskeletal protein	BrainSpLMD|27445;Eurexp|euxassay_009714|brain, cervical, cervico-thoracic, olfactory, spinal cord, thoracic;BrainSpMouseDev|26621	OMIM|604918;HPO|27445|Autosomal recessive inheritance, Brachycephaly, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy, Congenital onset, Decreased body weight, Depressed nasal bridge, Downturned corners of mouth, Full cheeks, Global developmental delay, Hearing impairment, High palate, High, narrow palate, Hyperreflexia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Long palpebral fissure, Long philtrum, Low-set ears, Macrotia, Muscular hypotonia of the trunk, Neonatal hypotonia, Optic atrophy, Poor head control, Progressive, Progressive microcephaly, Proptosis, Seizures, Short stature, Spasticity
Glyc	SRA1	0.709410766	1.74E-06	Unclassified	BrainSpLMD|10011	OMIM|603819;HPO|10011|Autosomal dominant inheritance, Autosomal recessive inheritance, Cryptorchidism, Decreased testicular size, Gynecomastia, Hypogonadotrophic hypogonadism, Micropenis, Primary amenorrhea, Sparse axillary hair, Sparse pubic hair
Glyc	RN7SK	2.401665048	1.80E-06			OMIM|606515
Glyc	SSR1	0.687245275	1.84E-06	Membrane transport protein	BrainSpLMD|6745;Eurexp|euxassay_011321|basioccipital bone, basisphenoid bone, cartilaginous ring, clavicle, cricoid, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, metacarpus, molar, naris, orbito-sphenoid, otic capsule, pancreas, paraxial mesenchyme, pelvic girdle, petrous part, radius, scapula, submandibular gland primordium, thyroid, tibia, turbinate bones, ulna, vault of skull	OMIM|600868
Glyc	SCN2A	1.118810604	1.84E-06	Voltage gated channel	BrainSpLMD|6326	SFARI||Autism, 1 - High confidence;OMIM|182390;HPO|6326|Abnormality of skin morphology, Abnormality of vision, Ataxia, Autosomal dominant inheritance, Choreoathetosis, Cutaneous photosensitivity, Cyanosis, Deeply set eye, Developmental regression, Dialeptic seizures, Dysesthesia, Dyskinesia, EEG abnormality, Epileptic encephalopathy, Febrile seizures, Focal clonic seizures, Focal seizures, Focal seizures, afebril, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Generalized tonic-clonic seizures with focal onset, Global developmental delay, Hypertonia, Hypsarrhythmia, Infantile onset, Infantile spasms, Muscular hypotonia, Myoclonus, Neurodevelopmental delay, Normal interictal EEG, Obtundation status, Pschomotor retardation, Reduced consciousness/confusion, Seizures, Spastic tetraplegia, Status epilepticus, Tremor, Variable expressivity
Glyc	NSF	1.373042108	1.85E-06	ATPase	BrainSpLMD|4905;Eurexp|euxassay_004886|brain, dorsal root ganglion, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vibrissa	OMIM|601633
Glyc	IMP4	0.457537373	1.86E-06	RNA binding protein	BrainSpLMD|92856;Eurexp|euxassay_003515|axial muscle, submandibular gland primordium, thymus primordium, vibrissa	OMIM|612981
Glyc	COX14	1.182400038	1.89E-06	Integral membrane protein	BrainSpLMD|84987	OMIM|614478;HPO|84987|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
Glyc	ADRBK2	0.409758246	1.92E-06			
Glyc	C5orf22	0.559466373	1.93E-06	Unclassified	BrainSpLMD|55322	
Glyc	ZC3H15	0.655926966	2.07E-06	DNA binding protein	BrainSpLMD|55854	
Glyc	RP11.395L14.17	0.855471133	2.10E-06			
Glyc	APOOL	0.567584407	2.14E-06	Unclassified	BrainSpLMD|139322	OMIM|300955
Glyc	NMT1	1.259766641	2.33E-06	Enzyme: Acyltransferase;Unclassified	BrainSpLMD|4836	OMIM|160993
Glyc	SETD5	0.77261372	2.39E-06	Unclassified	BrainSpLMD|55209	SFARI||Autism, 1 - High confidence;OMIM|615743;HPO|55209|Abnormally low-pitched voice, Anteverted nares, Anxiety, Astigmatism, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Clinodactyly of the 5th finger, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Downturned corners of mouth, Drooling, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hyperlordosis, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphosis, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phthisis bulbi, Premature birth, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Scoliosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Strabismus, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Upslanted palpebral fissure, Vesicoureteral reflux, Widely spaced teeth
Glyc	KLC1	1.283209595	2.42E-06	Motor protein	BrainSpLMD|3831;Eurexp|euxassay_009774|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|600025
Glyc	TXLNG	0.600478465	2.44E-06	Unclassified	BrainSpLMD|55787	OMIM|300677
Glyc	VDAC3	0.889341051	2.62E-06	Voltage gated channel	BrainSpLMD|7419;Eurexp|euxassay_007065|embryo	OMIM|610029
Glyc	TOMM20	0.473890457	2.64E-06	Membrane transport protein	BrainSpLMD|9804	SFARI||Autism, 5 - Hypothesized but untested;OMIM|601848
Glyc	FSD1	0.840753883	2.75E-06	Unclassified	BrainSpLMD|79187;Eurexp|euxassay_005186|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|609828
Glyc	PDIA6	1.224865309	2.77E-06	Enzyme: Isomerase	BrainSpLMD|10130	OMIM|611099
Glyc	CRYZL1	0.596584539	2.85E-06	Enzyme: Oxidoreductase	BrainSpLMD|9946	OMIM|603920
Glyc	ARF4	0.878163701	2.90E-06	Transport/cargo protein	BrainSpLMD|378;Eurexp|euxassay_000003|arm, associated mesenchyme, axial skeleton, basal columns, clavicle, dermal component, diaphragm, dorsal root ganglion, duodenum, epidermal component, epithelium, facial VII, femur, floor plate, floorplate, foregut, forelimb, frontal bone primordium, glandular mucous membrane, hindlimb, hypoglossal XII, intervertebral disc, leg, limb, lower jaw, mandible, medullary raphe, mesenchyme, nasal capsule, nasal cavity, nasal septum, neural retina, nose, oculomotor III, olfactory, oral epithelium, oral region, pectoral girdle and thoracic body wall, petrous part, pons, skeleton, spinal cord, stomach, stroma, submandibular gland primordium, tibia, trigeminal V, turbinate bones, vagus X, vertebral cartilage condensation, vibrissa	OMIM|601177
Glyc	CCNG1	1.071570487	2.96E-06	Cell cycle control protein	BrainSpLMD|900;Eurexp|euxassay_011875|trigeminal V;BrainSpMouseDev|12235	OMIM|601578
Glyc	GPALPP1	0.537986635	3.13E-06	Unclassified	BrainSpLMD|55425	
Glyc	ATP6V1D	0.4017533	3.14E-06	ATPase	BrainSpLMD|51382;Eurexp|euxassay_003760|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, stroma, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|609398
Glyc	NEAT1	1.134906401	3.21E-06			OMIM|612769
Glyc	SMAD9	0.762684531	3.26E-06	Transcription factor;Unclassified	BrainSpLMD|4093;BrainSpMouseDev|35279	OMIM|603295;HPO|4093|Autosomal dominant inheritance, Incomplete penetrance, Increased pulmonary vascular resistance, Progressive, Pulmonary arterial hypertension
Glyc	THUMPD3.AS1	0.833256209	3.28E-06			
Glyc	ELMOD3	0.271589147	3.39E-06	Unclassified	BrainSpLMD|84173;Eurexp|euxassay_003113|olfactory	OMIM|615427;HPO|84173|Autosomal recessive inheritance, Hearing impairment
Glyc	UBR2	0.620318345	3.40E-06	Ubiquitin proteasome system protein	BrainSpLMD|23304	OMIM|609134
Glyc	TMED8	0.325189578	3.44E-06	Unclassified	BrainSpLMD|283578	
Glyc	GUCY1A3	1.456263551	3.48E-06			
Glyc	PRUNE2	0.9963181	3.53E-06	Unclassified	BrainSpLMD|158471;Eurexp|euxassay_011113|diaphragm, dorsal root ganglion, facial VII, floor plate, floorplate, footplate, glossopharyngeal IX, handplate, mantle layer, marginal layer, medulla, midgut, neural retina, oesophagus, olfactory, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, stomach, tegmentum, thymus primordium, trigeminal V, vagus X, ventral grey horn, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|610691
Glyc	RPS7P11	0.503265535	3.58E-06			
Glyc	NHP2L1	1.029417696	3.68E-06			
Glyc	RAB3C	0.866634608	3.69E-06	GTPase	BrainSpLMD|115827;Eurexp|euxassay_009433|brain, dorsal root ganglion, olfactory, spinal cord	OMIM|612829
Glyc	ODF2	1.209475985	3.69E-06	Motor protein	BrainSpLMD|4957	OMIM|602015
Glyc	SNRPA1	0.445823631	3.70E-06	Ribonucleoprotein	BrainSpLMD|6627;Eurexp|euxassay_002737|adrenal gland, calyces, dorsal root ganglion, lobe, oesophagus, olfactory, submandibular gland primordium, thymus primordium	OMIM|603521
Glyc	CLCN6	1.101249906	3.73E-06	Voltage gated channel	BrainSpLMD|1185;Eurexp|euxassay_008300|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602726
Glyc	TUSC2	0.396731718	3.78E-06	Unclassified	BrainSpLMD|11334	OMIM|607052
Glyc	C2orf69	0.630865449	3.81E-06	Unclassified	BrainSpLMD|205327;Eurexp|euxassay_007579|mandible, maxilla, orbito-sphenoid	
Glyc	SNX10	0.639190616	4.18E-06	Transport/cargo protein	BrainSpLMD|29887	OMIM|614780;HPO|29887|Abnormal blistering of the skin, Abnormality of epiphysis morphology, Abnormality of hair texture, Abnormality of temperature regulation, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of visual evoked potentials, Anemia, Autosomal recessive inheritance, Bone pain, Bowing of the long bones, Chronic rhinitis, Craniosynostosis, Delayed eruption of teeth, Facial palsy, Failure to thrive, Feeding difficulties, Frontal bossing, Growth delay, Hearing impairment, Hepatomegaly, Hydrocephalus, Lymphadenopathy, Macrocephaly, Narrow chest, Nystagmus, Opsoclonus, Optic atrophy, Optic nerve compression, Osteopetrosis, Otitis media, Pallor, Premature loss of primary teeth, Recurrent fractures, Recurrent respiratory infections, Reduced bone mineral density, Splenomegaly, Thrombocytopenia, Tremor, Visual impairment
Glyc	PSMA5	1.092971433	4.36E-06	Ubiquitin proteasome system protein	BrainSpLMD|5686	OMIM|176844
Glyc	PDXDC1	0.562401524	4.50E-06	Enzyme: Decarboxylase		OMIM|614244
Glyc	ANXA7	0.673054169	4.82E-06	Calcium binding protein	BrainSpLMD|310	OMIM|186360
Glyc	CREB3	1.680170355	4.89E-06	Transcription factor	BrainSpLMD|10488;Eurexp|euxassay_004843|clavicle, dorsal root ganglion, glossopharyngeal IX, mandible, maxilla, medulla, orbito-sphenoid, rib, trigeminal V;BrainSpMouseDev|12696	OMIM|606443
Glyc	OPCML	0.883502539	4.92E-06	Adhesion molecule	BrainSpLMD|4978;Eurexp|euxassay_011103|dorsal root ganglion, epithalamus, facial VII, glossopharyngeal IX, mantle layer, marginal layer, tongue, trigeminal V	OMIM|600632
Glyc	DNAJC24	0.484260089	5.14E-06	Heat shock protein	BrainSpLMD|120526	OMIM|611072
Glyc	IDH3A	0.885614405	5.14E-06	Enzyme: Dehydrogenase	BrainSpLMD|3419;Eurexp|euxassay_010648|glossopharyngeal IX, lobe, mandible, midgut, orbito-sphenoid, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, ventral grey horn, ventricle, vibrissa	OMIM|601149
Glyc	BTAF1	0.786422888	5.20E-06	Transcription regulatory protein	BrainSpLMD|9044	SFARI||Autism, 6 - Evidence does not support role;OMIM|605191
Glyc	ZNF721	0.653616548	5.20E-06	DNA binding protein	BrainSpLMD|170960	
Glyc	RP11.347C12.1	1.13163351	5.34E-06			
Glyc	MAN1A2	0.74515826	5.51E-06	Enzyme: Hydrolase	BrainSpLMD|10905	OMIM|604345
Glyc	PWAR6	0.450198703	5.56E-06			
Glyc	HPRT1	0.497811141	5.58E-06	Enzyme: Ribosyltransferase	BrainSpLMD|3251;Eurexp|euxassay_015575|Meckel's cartilage, dorsal root ganglion, facial VII, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, oesophagus, orbito-sphenoid, pancreas, rectum, stomach, submandibular gland primordium, thymus primordium, trigeminal V, urethra, ventral grey horn, vibrissa	OMIM|308000;HPO|3251|Abnormality of extrapyramidal motor function, Abnormality of movement, Anemia, Behavioral abnormality, Choreoathetosis, Dysarthria, Dysphagia, Dystonia, Generalized hypotonia, Gout, Hematuria, Hemiplegia/hemiparesis, Hyperreflexia, Hyperuricosuria, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Megaloblastic anemia, Motor delay, Nephrolithiasis, Opisthotonus, Podagra, Renal insufficiency, Short stature, Spasticity, Testicular atrophy, Vomiting, X-linked recessive inheritance
Glyc	COPG2	1.050876742	5.64E-06	Transport/cargo protein	BrainSpMouseDev|33453	OMIM|604355
Glyc	NRSN1	0.640760266	5.88E-06	Integral membrane protein	BrainSpLMD|140767;Eurexp|euxassay_005168|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, nerve, olfactory lobe, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|616630
Glyc	CUTA	0.396973891	5.95E-06	Unclassified	BrainSpLMD|51596	OMIM|616953
Glyc	ENY2	0.312143114	6.15E-06	Transcription factor	BrainSpLMD|56943;Eurexp|euxassay_006635|ventricular layer	
Glyc	GABRB2	0.694172606	6.17E-06	Integral membrane protein	BrainSpLMD|2561;Eurexp|euxassay_014215|mantle layer;BrainSpMouseDev|14177	OMIM|600232
Glyc	UNC13A	0.949395426	6.22E-06	Calcium binding protein	Eurexp|euxassay_014553|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|609894;HPO|23025|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
Glyc	SCAI	0.600148747	6.24E-06	Unclassified	BrainSpLMD|286205;Eurexp|euxassay_018813|olfactory	
Glyc	SNAPC1	0.833995523	6.25E-06	Transcription regulatory protein	BrainSpLMD|6617	OMIM|600591
Glyc	ZNF274	0.496887717	6.42E-06	Transcription regulatory protein	BrainSpLMD|10782	OMIM|605467
Glyc	RP11.544A12.4	0.639821507	6.64E-06			
Glyc	CBWD5	0.792344764	6.69E-06	Unclassified		
Glyc	PMS2P1	1.154172535	6.73E-06			OMIM|605038
Glyc	EPT1	0.7467749	6.84E-06			
Glyc	RNF152	1.16067046	6.85E-06	Ubiquitin proteasome system protein	BrainSpLMD|220441	OMIM|616512
Glyc	PBX3	0.396232486	6.92E-06	Transcription factor	BrainSpLMD|5090;Eurexp|euxassay_002571|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, pharyngo-tympanic tube, spinal cord;BrainSpMouseDev|18282	OMIM|176312
Glyc	FABP3	1.783895125	7.10E-06	Transport/cargo protein	BrainSpLMD|2170;Eurexp|euxassay_003367|Meckel's cartilage, cranium, incisor, lateral recess, molar, orbito-sphenoid, ventral grey horn, ventricle	SFARI||Autism, 5 - Hypothesized but untested;OMIM|134651
Glyc	RPP21	0.780327652	7.20E-06	Ribonuclease	BrainSpLMD|79897	OMIM|612524
Glyc	PSMA7	0.40187532	7.44E-06	Ubiquitin proteasome system protein	BrainSpLMD|5688	OMIM|606607
Glyc	ZBTB43	0.9045432	7.44E-06	Transcription regulatory protein	BrainSpLMD|23099	
Glyc	PIBF1	0.534434328	7.54E-06	Transcription factor	BrainSpLMD|10464;Eurexp|euxassay_002784|oesophagus	OMIM|607532
Glyc	COX7A2L	0.513743296	7.67E-06	Enzyme: Oxidase	BrainSpLMD|9167	OMIM|605771
Glyc	API5	0.477643529	7.78E-06	Unclassified	BrainSpLMD|8539;Eurexp|euxassay_007141|embryo	OMIM|609774
Glyc	PCBP1.AS1	0.745046511	7.89E-06			
Glyc	NPRL2	1.184596426	8.08E-06	Unclassified	BrainSpLMD|10641	OMIM|607072;HPO|10641|Autosomal dominant inheritance, Incomplete penetrance
Glyc	AACS	1.241046126	8.15E-06	Enzyme: Ligase	BrainSpLMD|65985;Eurexp|euxassay_005036|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, stroma, thymus primordium, trigeminal V, vagus X	OMIM|614364
Glyc	SAFB2	0.771840037	8.59E-06	Unclassified	BrainSpLMD|9667	OMIM|608066
Glyc	ANKZF1	0.793162599	8.59E-06	Unclassified	BrainSpLMD|55139	OMIM|617541
Glyc	EIF1	0.695728926	8.60E-06	Translation regulatory protein	BrainSpLMD|10209	
Glyc	TARBP1	0.266006104	8.97E-06	RNA binding protein	BrainSpLMD|6894	OMIM|605052
Glyc	GAS5	0.433571797	9.09E-06			OMIM|608280
Glyc	MAGEE1	0.83767146	9.48E-06	Unclassified	BrainSpLMD|57692	OMIM|300759
Glyc	SERINC1	0.307241705	9.48E-06	Integral membrane protein	BrainSpLMD|57515;Eurexp|euxassay_003005|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614548
Glyc	POLR1D	0.628406385	9.51E-06	RNA polymerase	BrainSpLMD|51082;Eurexp|euxassay_002352|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|19781	OMIM|613715;HPO|51082|Abnormality of bone mineral density, Absent eyelashes, Autosomal dominant inheritance, Choanal atresia, Choanal stenosis, Cleft eyelid, Cleft palate, Conductive hearing impairment, Downslanted palpebral fissures, Frontal bossing, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Iris coloboma, Low anterior hairline, Malar flattening, Micrognathia, Microtia, Midface retrusion, Narrow internal auditory canal, Open bite, Reduced number of teeth, Retrognathia, Short face, Skeletal dysplasia, Strabismus, Visual impairment, Wide nasal bridge
Glyc	P4HB	0.980531709	9.53E-06	Enzyme: Isomerase		OMIM|176790;HPO|5034|Abnormal form of the vertebral bodies, Abnormality of dental enamel, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the voice, Autosomal dominant inheritance, Blue sclerae, Bowing of the long bones, Communicating hydrocephalus, Coronal craniosynostosis, Crumpled long bones, Delayed eruption of teeth, Frontal bossing, High pitched voice, Intrauterine growth retardation, Kyphosis, Microdontia, Micrognathia, Midface retrusion, Muscular hypotonia, Orbital craniosynostosis, Osteopenia, Proptosis, Recurrent fractures, Scoliosis, Shallow orbits, Short stature, Skeletal dysplasia, Turricephaly, Vertebral compression fractures, Wormian bones
Glyc	PDXK	1.233768886	9.60E-06	Enzyme: Phosphotransferase	BrainSpLMD|8566;Eurexp|euxassay_018332|clavicle, cortex, hindgut, incisor, lobe, lung, mandible, maxilla, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, rectum, submandibular gland primordium, thymus primordium, thyroid, urethra, ventricular layer, vibrissa, vomeronasal organ	OMIM|179020
Glyc	FAM206A	0.964205563	9.67E-06	Unclassified	BrainSpLMD|54942	
Glyc	FAM92A1	0.459969675	9.96E-06			
Glyc	OLA1	0.380756958	1.00E-05	Unclassified	BrainSpLMD|29789	OMIM|611175
Glyc	ZFHX3	0.421717793	1.04E-05	DNA binding protein	BrainSpLMD|463;Eurexp|euxassay_016590|axial skeleton, cervical, cervico-thoracic, cornea, dorsal root ganglion, exoccipital bone, facial VII, glossopharyngeal IX, head mesenchyme, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, mesenchyme, metatarsus, neural retina, orbito-sphenoid, penis, thoracic, trigeminal V, turbinate, vagus X, vault of skull, ventral grey horn;BrainSpMouseDev|11693	OMIM|104155;COSMIC||endometrial, gastric, prostate
Glyc	MZT1	0.604827642	1.10E-05	Unclassified		OMIM|613448
Glyc	CYP51A1	1.645859082	1.13E-05	Unclassified	BrainSpLMD|1595;Eurexp|euxassay_010645|adrenal gland, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, mandible, maxilla, molar, neural retina, spinal cord, testis, thoracic, trigeminal V, vibrissa	OMIM|601637
Glyc	RP11.358L22.3	0.321036938	1.16E-05			
Glyc	FBXO22	0.45233054	1.20E-05	Ubiquitin proteasome system protein	BrainSpLMD|26263	OMIM|609096
Glyc	MRPS11	0.691054874	1.21E-05	Ribosomal subunit	BrainSpLMD|64963	OMIM|611977
Glyc	RPL5P4	1.052314269	1.21E-05			
Glyc	TFIP11	0.376238183	1.23E-05	Extracellular matrix protein	BrainSpLMD|24144;Eurexp|euxassay_005104|brain, cervical, cervico-thoracic, dorsal root ganglion, incisor, metanephros, molar, naris, nasal septum, olfactory, respiratory, retina, spinal cord, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|612747
Glyc	BEX2	0.368997985	1.24E-05	Unclassified	BrainSpLMD|84707;Eurexp|euxassay_006276|bladder, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, lumen, mesenchyme, skeletal muscle, thoracic, trigeminal V, vertebral axis muscle system	OMIM|300691
Glyc	GTF2B	0.616160635	1.25E-05	Transcription factor	BrainSpLMD|2959;Eurexp|euxassay_008180|testis	OMIM|189963
Glyc	GHITM	0.842408685	1.26E-05	Integral membrane protein	BrainSpLMD|27069;Eurexp|euxassay_004837|dorsal root ganglion, facial VII, glossopharyngeal IX, left, mantle layer, medulla, right, submandibular gland primordium, thymus primordium, trigeminal V	
Glyc	TMEM14B	0.938436097	1.27E-05	Integral membrane protein	BrainSpLMD|81853	
Glyc	SLC39A7	1.035627352	1.30E-05	Membrane transport protein	BrainSpLMD|7922	OMIM|601416
Glyc	MRPS18B	0.57258764	1.31E-05	Ribosomal subunit	BrainSpLMD|28973	OMIM|611982
Glyc	CDK7	0.340249342	1.34E-05	Serine/threonine kinase	BrainSpLMD|1022	OMIM|601955
Glyc	TTC19	0.866515533	1.34E-05	Unclassified	BrainSpLMD|54902;Eurexp|euxassay_002848|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	OMIM|613814;HPO|54902|Aggressive behavior, Anxiety, Apraxia, Autosomal recessive inheritance, Axonal degeneration, Bradykinesia, Cerebellar atrophy, Cerebral atrophy, Cognitive impairment, Depressivity, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysphonia, Dystonia, Hallucinations, Incoordination, Muscle weakness, Neurodegeneration, Nystagmus, Obsessive-compulsive behavior, Olivopontocerebellar atrophy, Phenotypic variability, Psychosis, Skeletal muscle atrophy, Spastic paraparesis, Tremor
Glyc	ATP6V1G2	0.963533424	1.34E-05	ATPase	Eurexp|euxassay_002941|basal plate, facial VII, glossopharyngeal IX, lateral wall, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|606853
Glyc	ARFGEF2	0.286604419	1.44E-05	Guanine nucleotide exchange factor	BrainSpLMD|10564	OMIM|605371;HPO|10564|Autosomal recessive inheritance, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile onset, Intellectual disability, Intellectual disability, severe, Microcephaly, Periventricular gray matter heterotopia, Poor eye contact, Progressive microcephaly, Seizures, Tetraparesis
Glyc	SNX27	0.98021236	1.45E-05	Transport/cargo protein	BrainSpLMD|81609	OMIM|611541
Glyc	CBX6	0.720544202	1.45E-05	DNA binding protein	BrainSpLMD|23466	OMIM|617438
Glyc	PJA1	0.464209809	1.46E-05	Ubiquitin proteasome system protein	BrainSpLMD|64219	OMIM|300420
Glyc	MRPL32	0.356977689	1.47E-05	Ribosomal subunit	BrainSpLMD|64983	OMIM|611839
Glyc	YIF1A	1.326967587	1.47E-05	Integral membrane protein	BrainSpLMD|10897	OMIM|611484
Glyc	NUPL1	0.499855692	1.51E-05			
Glyc	IGFBP5	0.760505669	1.53E-05	Adhesion molecule	BrainSpLMD|3488;Eurexp|euxassay_001623|limb, tail, vertebral axis muscle system;BrainSpMouseDev|15784	OMIM|146734
Glyc	AMPD2	1.441883536	1.54E-05	Enzyme: Deaminase	BrainSpLMD|271	OMIM|102771;HPO|271|Abnormality of the periventricular white matter, Abnormality of the pinna, Autosomal recessive inheritance, Cerebral cortical atrophy, Clonus, Cortical visual impairment, Downslanted palpebral fissures, Facial hypotonia, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Macroglossia, Microcephaly, Midface retrusion, Muscular hypotonia of the trunk, Narrow forehead, Optic atrophy, Peripheral axonal neuropathy, Progressive microcephaly, Scissor gait, Seizures, Short upper lip, Spastic paraplegia, Spasticity, Ventriculomegaly
Glyc	CNOT6L	0.494333536	1.55E-05	Transcription regulatory protein	BrainSpLMD|246175;Eurexp|euxassay_003596|calyces, vibrissa	
Glyc	ERP29	0.604589369	1.55E-05	Chaperone	BrainSpLMD|10961;Eurexp|euxassay_001731|Meckel's cartilage	OMIM|602287
Glyc	HBS1L	0.26701985	1.56E-05	Translation regulatory protein	BrainSpLMD|10767	OMIM|612450
Glyc	ZFYVE1	1.664839454	1.57E-05	Unclassified	BrainSpLMD|53349	OMIM|605471
Glyc	ATPIF1	0.892363994	1.60E-05			
Glyc	HMGCS1	0.588237745	1.64E-05	Enzyme: Synthase	BrainSpLMD|3157	OMIM|142940
Glyc	GPIHBP1	0.695942211	1.66E-05	Unclassified	BrainSpLMD|338328	OMIM|612757;HPO|338328|Acute pancreatitis, Autosomal recessive inheritance, Episodic abdominal pain, Eruptive xanthomas, Failure to thrive, Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Hyperlipoproteinemia, Hypertriglyceridemia, Increased circulating chylomicron levels, Lipemia retinalis, Recurrent pancreatitis, Splenomegaly
Glyc	UBLCP1	0.313105235	1.68E-05	Enzyme: Phosphatase	BrainSpLMD|134510	OMIM|609867
Glyc	ILF3.AS1	0.682652307	1.77E-05			
Glyc	HMGCR	0.869064347	1.84E-05	Enzyme: Reductase	BrainSpLMD|3156;Eurexp|euxassay_004330|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nucleus pulposus, spinal cord, thoracic, trigeminal V, vagus X	OMIM|142910
Glyc	TERF2IP	0.520274457	1.84E-05	DNA binding protein;Cell cycle control protein	BrainSpLMD|54386	OMIM|605061;HPO|54386|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus
Glyc	HILPDA	1.290037893	1.89E-05	Integral membrane protein	BrainSpLMD|29923	
Glyc	ATPAF1	0.798605805	1.90E-05	Chaperone		OMIM|608917
Glyc	ABCA5	0.789993275	1.92E-05	Membrane transport protein	BrainSpLMD|23461	OMIM|612503;HPO|23461|Coarse facial features, Delayed eruption of teeth, EEG abnormality, Generalized hirsutism, Gingival fibromatosis, Gingival overgrowth
Glyc	NDRG4	1.150142058	1.92E-05	Enzyme: Hydrolase;Cell cycle control protein	BrainSpLMD|65009;Eurexp|euxassay_015917|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mantle layer, neural retina, trigeminal V, ventral grey horn, vestibulocochlear VIII	OMIM|614463
Glyc	SEC22B	0.343994445	1.93E-05	Integral membrane protein	BrainSpLMD|9554	OMIM|604029
Glyc	MCFD2	0.757138419	1.96E-05	Unclassified	BrainSpLMD|90411;Eurexp|euxassay_000692|Meckel's cartilage, chondrocranium, incisor, molar	OMIM|607788;HPO|90411|Autosomal recessive inheritance, Epistaxis, Menorrhagia, Persistent bleeding after trauma, Reduced factor V activity, Reduced factor VIII activity
Glyc	C12orf76	1.180512393	1.98E-05	Unclassified	BrainSpLMD|400073	
Glyc	LDHA	1.32799256	2.00E-05	Enzyme: Dehydrogenase	BrainSpLMD|3939	OMIM|150000;HPO|3939|Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise intolerance, Increased serum lactate, Increased serum pyruvate, Juvenile onset, Muscle cramps, Muscle stiffness, Myalgia, Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Rigidity
Glyc	DSCR3	0.468268714	2.00E-05	Unclassified	BrainSpLMD|10311	OMIM|605298
Glyc	UNC50	0.79095183	2.06E-05	RNA binding protein	BrainSpLMD|25972	
Glyc	TMEM106B	0.496544047	2.11E-05	Unclassified	BrainSpLMD|54664	OMIM|613413;HPO|54664|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Aggressive behavior, Alexia, Anxiety, Apraxia, Collectionism, Depressivity, Disinhibition, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, EEG with continuous slow activity, Echolalia, Emotional blunting, Frontotemporal cerebral atrophy, Frontotemporal dementia, Grammar-specific speech disorder, Hyperorality, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Perseveration, Personality changes, Poor speech, Restlessness, Restrictive behavior, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold
Glyc	BCAS2	0.900708296	2.15E-05	Cell cycle control protein	Eurexp|euxassay_001997|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, submandibular gland primordium, trigeminal V	OMIM|605783
Glyc	LCLAT1	0.254894844	2.15E-05	Enzyme: Acyltransferase	BrainSpLMD|253558	OMIM|614241
Glyc	SDHC	1.626290851	2.21E-05	Enzyme: Dehydrogenase	BrainSpLMD|6391	OMIM|602413;COSMIC||paraganglioma, pheochromocytoma;HPO|6391|Abdominal pain, Abnormality of the penis, Adenoma sebaceum, Adrenal pheochromocytoma, Adult onset, Ataxia, Autosomal dominant inheritance, Breast carcinoma, Cavernous hemangioma, Chemodectoma, Cognitive impairment, Colorectal polyposis, Conjunctival hamartoma, Constipation, Cranial nerve paralysis, Dysphagia, Elevated circulating catecholamine level, Episodic paroxysmal anxiety, Extraadrenal pheochromocytoma, Fatigue, Furrowed tongue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Generalized hyperkeratosis, Global developmental delay, Glomus jugular tumor, Goiter, Hamartomatous polyposis, Hearing impairment, Hoarse voice, Hyperhidrosis, Hyperpigmentation of the skin, Hypertension associated with pheochromocytoma, Intellectual disability, Intestinal obstruction, Large hands, Lipoma, Loss of voice, Macrocephaly, Macroglossia, Macule, Melanocytic nevus, Meningioma, Mucosal telangiectasiae, Nausea and vomiting, Neoplasm of the gastrointestinal tract, Neoplasm of the stomach, Neurofibromas, Palmoplantar keratoderma, Palpitations, Papilloma, Papule, Paraganglioma, Pulsatile tinnitus, Recurrent paroxysmal headache, Sarcoma, Sporadic, Subcutaneous nodule, Tachycardia, Tinnitus, Urticaria, Vocal cord paralysis, Weight loss
Glyc	STOX2	0.553842585	2.23E-05	Unclassified	Eurexp|euxassay_008526|ventricular layer	OMIM|617359
Glyc	POLE3	1.100802673	2.24E-05	DNA binding protein	BrainSpLMD|54107	OMIM|607267
Glyc	TTC33	0.590739119	2.24E-05	Unclassified	BrainSpLMD|23548;Eurexp|euxassay_001924|brain, dorsal root ganglion, glossopharyngeal IX, olfactory, spinal cord, trigeminal V	
Glyc	SBDSP1	0.852226977	2.25E-05			
Glyc	ZZEF1	0.435858567	2.26E-05	Unclassified	BrainSpLMD|23140	
Glyc	GOLGA8B	0.263675566	2.27E-05	Unclassified	BrainSpLMD|440270	OMIM|609619
Glyc	MARS	0.844825663	2.28E-05	Enzyme: Ligase	BrainSpLMD|4141	OMIM|156560;HPO|4141|Alveolar proteinosis, Aminoaciduria, Anemia, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Clubbing, Cough, Decreased liver function, Distal sensory impairment, Dyspnea, Elevated hepatic transaminases, Failure to thrive, Foot dorsiflexor weakness, Hepatic steatosis, Hepatomegaly, Hypothyroidism, Interstitial pulmonary abnormality, Peripheral axonal neuropathy, Progressive, Respiratory insufficiency, Slow progression, Steppage gait, Variable expressivity
Glyc	EIF2S2	0.974719376	2.33E-05	Translation regulatory protein	BrainSpLMD|8894	OMIM|603908
Glyc	PEX13	0.647806275	2.38E-05	Integral membrane protein	BrainSpLMD|5194	OMIM|601789;HPO|5194|Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the liver, Abnormality of the palate, Anteverted nares, Apnea, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, CNS hypomyelination, Cataract, Central hypotonia, Chorioretinal abnormality, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Death in infancy, Decreased liver function, Depressed nasal bridge, Developmental regression, Dolichocephaly, EEG abnormality, Elevated hepatic transaminases, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Global developmental delay, Hearing impairment, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypospadias, Infantile muscular hypotonia, Jaundice, Large face, Lissencephaly, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Multiple renal cysts, Muscular hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Polymicrogyria, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Respiratory insufficiency, Respiratory tract infection, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Skeletal dysplasia, Spasticity, Strabismus, Triangular face, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Very long chain fatty acid accumulation, Visual impairment, Visual loss, Wide anterior fontanel, Wide nasal bridge
Glyc	ANKRD46	0.834191807	2.39E-05	Integral membrane protein	BrainSpLMD|157567;Eurexp|euxassay_007253|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	
Glyc	RPN1	0.732468536	2.44E-05	Ubiquitin proteasome system protein	BrainSpLMD|6184;Eurexp|euxassay_003116|chondrocranium	OMIM|180470;COSMIC||AML
Glyc	WDR75	0.965353716	2.49E-05	Unclassified	BrainSpLMD|84128	
Glyc	RP11.785H5.1	1.279432029	2.53E-05			
Glyc	TMED3	1.210937919	2.55E-05	Integral membrane protein	BrainSpLMD|23423;Eurexp|euxassay_003152|Meckel's cartilage, axial skeleton, basisphenoid bone, chondrocranium, clavicle, cranium, exoccipital bone, incisor, molar, nasal capsule, nasal septum, orbito-sphenoid, otic capsule, pancreas, rib, turbinate, turbinate bones;BrainSpMouseDev|41954	
Glyc	G3BP2	0.371923573	2.55E-05	Unclassified	BrainSpLMD|9908	
Glyc	SEZ6L2	0.631845494	2.58E-05	Integral membrane protein	BrainSpLMD|26470;Eurexp|euxassay_006780|adenohypophysis, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, medulla, midgut, neural retina, olfactory, skeletal muscle, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|616667
Glyc	RBM33	0.376646518	2.64E-05	RNA binding protein	BrainSpLMD|155435;Eurexp|euxassay_008530|embryo	
Glyc	PLD3	0.959595756	2.67E-05	Enzyme: Phospholipase	BrainSpLMD|23646	OMIM|615698
Glyc	WWP1	0.265141314	2.67E-05	Ubiquitin proteasome system protein	BrainSpLMD|11059	OMIM|602307
Glyc	ISCA1	1.097291503	2.82E-05	Unclassified	BrainSpLMD|81689;Eurexp|euxassay_006863|4th ventricle, choroid plexus, left, right	OMIM|611006
Glyc	RPL5P1	1.07825551	2.89E-05			
Glyc	KIF1A	0.78418316	2.89E-05	Motor protein	BrainSpLMD|547;Eurexp|euxassay_016778|alar plate, basal plate, cerebellum, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601255;HPO|547|Abnormal cortical bone morphology, Abnormality of epiphysis morphology, Abnormality of eye movement, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of the ankles, Abnormality of the eye, Abnormality of the hip bone, Abnormality of the knee, Abnormality of the palate, Abnormality of upper lip, Acral ulceration leading to autoamputation of digits, Anhidrosis, Ankle clonus, Anteverted nares, Areflexia, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Biparietal narrowing, Cerebellar atrophy, Cerebral cortical atrophy, Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Decreased taste sensation, Drowsiness, Dysmetria, Dystrophic fingernails, Dystrophic toenail, Edema of the lower limbs, Epicanthus, Episodic hyperhidrosis, External ear malformation, Feeding difficulties, Feeding difficulties in infancy, Foot acroosteolysis, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hydrocephalus, Hyperhidrosis, Hyperlordosis, Hyperreflexia, Hyporeflexia, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, severe, Limitation of joint mobility, Lower limb amyotrophy, Lower limb muscle weakness, Lower limb spasticity, Macrotia, Malar flattening, Microcephaly, Midface retrusion, Open mouth, Optic atrophy, Osteolytic defects of the phalanges of the hand, Painless fractures due to injury, Palpebral edema, Paronychia, Peripheral axonal neuropathy, Peripheral edema, Peripheral neuropathy, Porencephalic cyst, Progressive, Recurrent respiratory infections, Reduced bone mineral density, Severe muscular hypotonia, Short nose, Skeletal muscle atrophy, Slow progression, Spastic gait, Spastic paraplegia, Tapered finger, Urinary bladder sphincter dysfunction, Variable expressivity, Ventriculomegaly, Visual loss, Wormian bones
Glyc	EPB41L1	0.678243942	2.93E-05	Cytoskeletal associated protein	BrainSpLMD|2036;Eurexp|euxassay_016807|arm, cortex, cranium, dermis, glossopharyngeal IX, head mesenchyme, hindgut, incisor, left lung, leg, loop, lumen, mandible, mantle layer, marginal layer, maxilla, mesenchyme, midgut, phalanx, right lung, stomach, trachea, trigeminal V, ventral grey horn, vertebral axis muscle system	OMIM|602879;HPO|2036|Autosomal dominant inheritance
Glyc	PCMT1	0.525724494	2.96E-05	Enzyme: Methyltransferase	BrainSpLMD|5110	OMIM|176851
Glyc	CISD1	0.684894778	2.97E-05	Unclassified	BrainSpLMD|55847;Eurexp|euxassay_003163|chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, lobe, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611932
Glyc	YTHDF1	1.052741485	2.99E-05	Unclassified	BrainSpLMD|54915	OMIM|616529
Glyc	CCDC47	0.307281073	3.04E-05	Unclassified	BrainSpLMD|57003;Eurexp|euxassay_000833|submandibular gland primordium	
Glyc	NARS2	0.809898035	3.08E-05	Enzyme: Ligase	BrainSpLMD|79731	OMIM|612803;HPO|79731|Agenesis of corpus callosum, Autosomal recessive inheritance, Cortical visual impairment, Elevated serum creatine phosphokinase, Facial palsy, Feeding difficulties, Focal segmental glomerulosclerosis, Generalized hypotonia, Gliosis, Increased serum lactate, Microcephaly, Muscular hypotonia, Myopathy, Neurodegeneration, Neuronal loss in central nervous system, Nystagmus, Optic atrophy, Phenotypic variability, Proximal muscle weakness, Ptosis, Skeletal muscle atrophy, Spasticity
Glyc	GOLGA8A	1.429131092	3.12E-05	Unclassified	BrainSpLMD|23015	OMIM|616180
Glyc	NAPB	1.193503172	3.15E-05	Unclassified	BrainSpLMD|63908;Eurexp|euxassay_010086|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, spinal cord, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611270
Glyc	SGIP1	0.344472521	3.16E-05	Unclassified	BrainSpLMD|84251;Eurexp|euxassay_001827|brain, spinal cord, trigeminal V	OMIM|611540
Glyc	HYOU1	0.808153725	3.17E-05	Chaperone	BrainSpLMD|10525	OMIM|601746
Glyc	RASA4	0.59658165	3.22E-05	GTPase activating protein	BrainSpLMD|10156	OMIM|607943
Glyc	TVP23B	0.884951718	3.24E-05	Integral membrane protein	BrainSpLMD|51030;Eurexp|euxassay_019263|lung	
Glyc	OSBP	0.309069389	3.30E-05	Transport/cargo protein	BrainSpLMD|5007	OMIM|167040
Glyc	FRY	0.71178195	3.46E-05	Unclassified	BrainSpLMD|10129;Eurexp|euxassay_016041|axial skeleton, cervical, cervico-thoracic, clavicle, cricoid, dorsal root ganglion, exoccipital bone, facial VII, fibula, glossopharyngeal IX, mantle layer, metatarsus, nasal septum, neural retina, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, rest of mesenchyme, rib, sternum, temporal bone, thoracic, thyroid, tibia, trigeminal V, turbinate, vagus X, vestibulocochlear VIII, vibrissa	OMIM|614818
Glyc	VIMP	0.882077833	3.47E-05			
Glyc	WASH7P	1.057003769	3.48E-05			
Glyc	TMEM66	0.535150829	3.52E-05			
Glyc	POLR2B	0.257156723	3.54E-05	RNA polymerase	BrainSpLMD|5431;Eurexp|euxassay_019551|incisor, liver, lung, metanephros, midgut, molar, neural retina, olfactory, pancreas, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|87230	OMIM|180661
Glyc	RP11.809C9.2	0.650186159	3.62E-05			
Glyc	FAM96B	0.712717465	3.64E-05	Unclassified	BrainSpLMD|51647	OMIM|614778
Glyc	C6orf48	0.319902794	3.66E-05	Unclassified	BrainSpLMD|50854	OMIM|605447
Glyc	IFT57	0.781282984	3.67E-05	Unclassified	BrainSpLMD|55081	OMIM|606621
Glyc	CCT4	0.64742144	3.69E-05	Chaperone	BrainSpLMD|10575	SFARI||Autism, 3 - Suggestive evidence;OMIM|605142
Glyc	JPX	0.274136657	3.71E-05		BrainSpLMD|554203	OMIM|300832
Glyc	BUD31	0.625016984	3.72E-05	Transcription regulatory protein	BrainSpLMD|8896	OMIM|603477
Glyc	RIOK3	0.627966847	3.72E-05	Cell cycle control protein	BrainSpLMD|8780;Eurexp|euxassay_018808|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|603579
Glyc	OXR1	0.616905398	3.74E-05	Unclassified	BrainSpLMD|55074	OMIM|605609
Glyc	TSPAN7	0.518752224	3.82E-05	Cell surface receptor	BrainSpLMD|7102;Eurexp|euxassay_015336|bladder, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, pancreas, thoracic, trigeminal V, vagus X, ventricular layer, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|300096;HPO|7102|Intellectual disability, Intellectual disability, mild, X-linked recessive inheritance
Glyc	VPS53	0.636387339	3.85E-05	Unclassified	BrainSpLMD|55275	OMIM|615850;HPO|55275|Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Flexion contracture, Global developmental delay, Hypoplasia of the corpus callosum, Infantile onset, Intellectual disability, Intellectual disability, profound, Irritability, Microcephaly, Neonatal hypotonia, Opisthotonus, Osteoporosis, Progressive, Progressive microcephaly, Scoliosis, Seizures, Short stature, Spastic tetraplegia
Glyc	ACBD3	0.626929831	3.93E-05	Transport/cargo protein	BrainSpLMD|64746	OMIM|606809
Glyc	SCP2	0.486266992	4.03E-05	Membrane transport protein	BrainSpLMD|6342	SFARI||Autism, 4 - Minimal evidence;OMIM|184755;HPO|6342|Abnormal motor neuron morphology, Abnormality of saccadic eye movements, Abnormality of thalamus morphology, Autosomal recessive inheritance, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Hyposmia, Intention tremor, Leukoencephalopathy, Peripheral neuropathy, Torticollis
Glyc	ACVR2A	0.744552485	4.06E-05	Receptor serine/threonine kinase	BrainSpLMD|92;BrainSpMouseDev|11268	OMIM|102581;COSMIC||large intestine carcinoma, stomach carcinoma, pancreatic carcinoma, biliary tract, oesophagus
Glyc	PAQR3	0.281996382	4.10E-05	Integral membrane protein	BrainSpLMD|152559	OMIM|614577
Glyc	FYTTD1	0.573445791	4.37E-05	Unclassified	BrainSpLMD|84248;Eurexp|euxassay_000220|central nervous system, epidermal component, epithelium, liver, mesenchyme, olfactory	OMIM|616933
Glyc	MRPL50	1.873396457	4.40E-05	Ribosomal subunit	BrainSpLMD|54534	OMIM|611854
Glyc	CARS	1.723541165	4.48E-05	Enzyme: Ligase	BrainSpLMD|833	OMIM|123859;COSMIC||ALCL
Glyc	ANAPC13	0.433888714	4.51E-05	Unclassified	BrainSpLMD|25847	OMIM|614484
Glyc	SLC25A12	0.536869586	4.54E-05	Transport/cargo protein	BrainSpLMD|8604	SFARI||Autism, 4 - Minimal evidence;OMIM|603667;HPO|8604|Absent speech, Autosomal recessive inheritance, Cerebral hypomyelination, Epileptic encephalopathy, Global developmental delay, Hyperreflexia, Infantile onset, Poor eye contact, Seizures, Severe muscular hypotonia, Spasticity
Glyc	LYSMD3	0.848085969	4.57E-05	Unclassified	BrainSpLMD|116068	
Glyc	STRAP	0.643956934	4.59E-05	Cell cycle control protein	BrainSpLMD|11171;Eurexp|euxassay_009444|cervical, cervico-thoracic, clavicle, cortex, dorsal root ganglion, facial VII, incisor, lung, mantle layer, molar, neural retina, olfactory, pancreas, submandibular gland primordium, thymus primordium, trigeminal V, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|605986
Glyc	SDHAP1	0.539682348	4.87E-05			
Glyc	ARL6IP5	0.47043265	4.91E-05	Unclassified	BrainSpLMD|10550	OMIM|605709
Glyc	SIKE1	1.20656616	4.98E-05	Unclassified	BrainSpLMD|80143;Eurexp|euxassay_012757|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, ventricle, vestibulocochlear VIII	OMIM|611656
Glyc	LINC00662	0.579494606	4.99E-05			
Glyc	ATM	0.420143486	5.06E-05	Serine/threonine kinase	BrainSpLMD|472	OMIM|607585;COSMIC||T-PLL, leukaemia, lymphoma, medulloblastoma, glioma;HPO|472|Abnormal spermatogenesis, Abnormality of bone marrow cell morphology, Abnormality of chromosome stability, Abnormality of the hair, Anorexia, Aplasia/Hypoplasia of the thymus, Ataxia, Autosomal recessive inheritance, B-cell lymphoma, Bronchiectasis, Cafe-au-lait spot, Cellular immunodeficiency, Choreoathetosis, Conjunctival telangiectasia, Decreased antibody level in blood, Decreased number of CD4+ T cells, Defective B cell differentiation, Delayed puberty, Diabetes mellitus, Dysarthria, Dystonia, Elevated alpha-fetoprotein, Elevated hepatic transaminases, Fatigue, Female hypogonadism, Fever, Gait disturbance, Glucose intolerance, Hodgkin lymphoma, Hypopigmentation of hair, Hypoplasia of the thymus, IgA deficiency, Immunoglobulin IgG2 deficiency, Leukemia, Lymphadenopathy, Lymphopenia, Mucosal telangiectasiae, Myoclonus, Neoplasm, Non-Hodgkin lymphoma, Nystagmus, Polycystic ovaries, Premature graying of hair, Recurrent bronchitis, Recurrent respiratory infections, Reduced tendon reflexes, Seizures, Short stature, Sinusitis, Skeletal muscle atrophy, Spasticity, Splenomegaly, Strabismus, Telangiectasia of the skin, Tremor, Weight loss
Glyc	CYB5B	0.615843638	5.16E-05	Transport/cargo protein	BrainSpLMD|80777;Eurexp|euxassay_010042|adrenal gland, axial muscle, cortex, lung, mandible, maxilla, midgut, neural retina, orbito-sphenoid, pancreas, wall	OMIM|611964
Glyc	RP11.203B9.4	0.896399465	5.19E-05			
Glyc	KDM3A	1.145007606	5.29E-05	Unclassified	BrainSpLMD|55818	OMIM|611512
Glyc	SBNO1	0.483230624	5.30E-05	Unclassified	BrainSpLMD|55206	OMIM|614274
Glyc	DDX27	0.849570115	5.66E-05	RNA helicase	BrainSpLMD|55661	OMIM|616621
Glyc	IKBKAP	0.365046303	5.66E-05			
Glyc	CTSL	0.704415127	5.74E-05	Cysteine protease	BrainSpLMD|1514	OMIM|116880
Glyc	TMF1	0.754783278	5.82E-05	Transcription factor	BrainSpLMD|7110;Eurexp|euxassay_016101|mandible, maxilla	OMIM|601126
Glyc	VAMP2	0.480136566	5.84E-05	Membrane transport protein	BrainSpLMD|6844	OMIM|185881
Glyc	PSMG3	0.876076932	5.85E-05	Unclassified	BrainSpLMD|84262	OMIM|617528
Glyc	LARP1B	0.780063916	6.02E-05	RNA binding protein	BrainSpLMD|55132	
Glyc	ELOVL6	0.510146244	6.18E-05	Unclassified	BrainSpLMD|79071;Eurexp|euxassay_007796|embryo	OMIM|611546
Glyc	CCDC115	0.940758254	6.27E-05	Unclassified	BrainSpLMD|84317	OMIM|613734;HPO|84317|Autosomal recessive inheritance, Cholestatic liver disease, Cirrhosis, Copper accumulation in liver, Hepatomegaly, Infantile onset, Prolonged neonatal jaundice, Skeletal muscle atrophy, Splenomegaly
Glyc	AGTPBP1	0.969775886	6.32E-05	Carboxypeptidase	BrainSpLMD|23287;Eurexp|euxassay_007611|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn	OMIM|606830
Glyc	ZNF714	0.657010358	6.37E-05	DNA binding protein	BrainSpLMD|148206	
Glyc	NUDT21	0.973393804	6.39E-05	RNA binding protein	BrainSpLMD|11051	OMIM|604978
Glyc	TKT	1.173664894	6.45E-05	Enzyme: Transketolase	BrainSpLMD|7086	OMIM|606781;HPO|7086|Autosomal recessive inheritance, Intellectual disability, Patent ductus arteriosus, Patent foramen ovale, Proportionate short stature, Self-injurious behavior, Stereotypy, Ventricular septal defect
Glyc	IDE	1.161247842	6.58E-05	Metallo protease	BrainSpLMD|3416;Eurexp|euxassay_018673|bladder, clavicle, cortex, dorsal root ganglion, epithelium, glossopharyngeal IX, incisor, left lung, liver, mandible, maxilla, medulla, midgut, molar, oesophagus, olfactory, pancreas, rectum, rib, right lung, spleen primordium, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|146680
Glyc	TERF1	0.292195283	6.71E-05	DNA binding protein	BrainSpLMD|7013	OMIM|600951
Glyc	LDHB	0.535717647	6.80E-05	Enzyme: Dehydrogenase	BrainSpLMD|3945	OMIM|150100
Glyc	NEGR1	0.44925763	6.84E-05	Unclassified	BrainSpLMD|257194	OMIM|613173
Glyc	FBXO38	0.327493676	6.96E-05	Transcription regulatory protein		OMIM|608533;HPO|81545|Autosomal dominant inheritance, Difficulty running, Difficulty walking, EMG: chronic denervation signs, Fasciculations, Lower limb amyotrophy, Lower limb muscle weakness, Muscle cramps, Slow progression, Spinal muscular atrophy, Triceps weakness, Variable expressivity, Weakness of the intrinsic hand muscles
Glyc	SUCO	0.7033991	7.06E-05	Integral membrane protein	BrainSpLMD|51430	
Glyc	FDPS	0.86417083	7.09E-05	Enzyme: Prenyltransferase	BrainSpLMD|2224;Eurexp|euxassay_005185|adenohypophysis, adrenal gland, axial skeleton, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, limb, liver, lung, mandible, maxilla, mesenchyme, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, paraxial mesenchyme, rectum, retina, skeletal muscle, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|134629;HPO|2224|Cutaneous photosensitivity, Porokeratosis
Glyc	COX18	0.99097546	7.15E-05	Transport/cargo protein;Unclassified	BrainSpLMD|285521	OMIM|610428
Glyc	AIMP2	1.01396216	7.20E-05	Translation regulatory protein	BrainSpLMD|7965;Eurexp|euxassay_001962|basal plate, dorsal root ganglion, head mesenchyme, incisor, molar, olfactory, orbito-sphenoid, submandibular gland primordium, thymus primordium, vertebral axis muscle system, vibrissa	OMIM|600859
Glyc	SRPR	1.576013932	7.34E-05			
Glyc	ATXN2L	0.929328576	7.45E-05	Unclassified	BrainSpLMD|11273	OMIM|607931
Glyc	LTN1	0.460877134	7.53E-05	Ubiquitin proteasome system protein	BrainSpLMD|26046	OMIM|613083
Glyc	DCUN1D2	1.389377279	7.64E-05	Unclassified	BrainSpLMD|55208	
Glyc	ZNF410	0.957602021	7.73E-05	Transcription factor	BrainSpLMD|57862	
Glyc	MALAT1	0.506312916	7.73E-05		BrainSpLMD|378938	OMIM|607924;COSMIC||renal cell carcinoma (childhood epithelioid), lung
Glyc	ZCCHC6	0.538968607	7.80E-05	DNA binding protein	BrainSpLMD|79670;Eurexp|euxassay_014361|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, carpus, clavicle, femur, fibula, footplate, humerus, hyoid bone, metacarpus, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|613467
Glyc	CACNB4	0.316886579	7.84E-05	Voltage gated channel	BrainSpLMD|785;Eurexp|euxassay_010369|marginal layer	OMIM|601949;HPO|785|Autosomal dominant inheritance, Dysarthria, Episodic ataxia, Gaze-evoked nystagmus, Incomplete penetrance, Vertigo
Glyc	C12orf73	0.389019462	8.05E-05	Unclassified		
Glyc	SNX2	0.737253739	8.06E-05	Transport/cargo protein	BrainSpLMD|6643	OMIM|605929
Glyc	ZNF143	0.862650037	8.12E-05	DNA binding protein	BrainSpLMD|7702	OMIM|603433
Glyc	MLX	0.956699359	8.16E-05	Transcription regulatory protein;Transcription factor	BrainSpLMD|6945;BrainSpMouseDev|21189	OMIM|602976;HPO|6945|Abnormal pattern of respiration, Abnormality of the aortic valve, Anemia, Anorexia, Arthritis, Chest pain, Dilatation, Dilatation of the ascending aorta, Fatigue, Fever, Gangrene, Hyperhidrosis, Hypertensive crisis, Hypertrophic cardiomyopathy, Inflammatory abnormality of the eye, Migraine, Muscle weakness, Myalgia, Myocardial infarction, Pulmonary arterial hypertension, Seizures, Skin ulcer, Subcutaneous nodule, Vasculitis, Weight loss
Glyc	H2AFZ	0.43491206	8.18E-05	DNA binding protein	BrainSpLMD|3015	OMIM|142763
Glyc	MICU2	0.462180967	8.20E-05	Serine/threonine kinase	BrainSpLMD|221154	OMIM|610632
Glyc	RP11.16E23.4	0.560104267	8.22E-05			
Glyc	SLX4IP	0.71469739	8.23E-05	Unclassified		OMIM|615958
Glyc	CDKN2D	0.303871227	8.23E-05	Cell cycle control protein	BrainSpLMD|1032;Eurexp|euxassay_006695|dorsal root ganglion, facial VII, glossopharyngeal IX, left, mantle layer, right, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|600927;HPO|1032|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus
Glyc	UBAP2L	0.518477296	8.26E-05	Unclassified	BrainSpLMD|9898	OMIM|616472
Glyc	CTD.2349P21.10	0.868770232	8.38E-05			
Glyc	RP11.423H2.1	0.884811429	8.57E-05			
Glyc	ACP1	0.630455226	8.65E-05	Enzyme: Acid phosphatase	BrainSpLMD|52;Eurexp|euxassay_003011|calyces, chondrocranium, incisor, lobe, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|171500
Glyc	GNAL	0.740347732	8.75E-05	G protein	BrainSpLMD|2774;Eurexp|euxassay_009060|dorsal root ganglion, mantle layer, trigeminal V	OMIM|139312;HPO|2774|Autosomal dominant inheritance, Laryngeal dystonia, Limb dystonia, Lingual dystonia, Torticollis
Glyc	BAG5	0.843215808	8.75E-05	Unclassified	BrainSpLMD|9529	OMIM|603885
Glyc	CBWD3	0.425703617	8.86E-05		BrainSpLMD|445571	OMIM|611080
Glyc	NPM1	0.485349399	9.11E-05	Chaperone	BrainSpLMD|4869;Eurexp|euxassay_005708|embryo	OMIM|164040;COSMIC||NHL, APL, AML
Glyc	FAM216A	1.15898096	9.20E-05	Unclassified	BrainSpLMD|29902;Eurexp|euxassay_006178|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, incisor, olfactory, retina, spinal cord, thoracic, trigeminal V	
Glyc	KIAA1244	0.814650271	9.33E-05			
Glyc	ATP6AP2	0.597519081	9.34E-05	Cell surface receptor	BrainSpLMD|10159	OMIM|300556;HPO|10159|Action tremor, Agraphesthesia, Astereognosia, Autosomal recessive inheritance, Babinski sign, Bradykinesia, Cerebellar atrophy, Cerebral atrophy, Cogwheel rigidity, Delayed speech and language development, Gait disturbance, Generalized tonic-clonic seizures, Hypomimic face, Hypoplasia of the corpus callosum, Hyporeflexia, Infantile onset, Intellectual disability, Motor delay, Parkinsonism, Resting tremor, Slow progression, Variable expressivity, X-linked recessive inheritance
Glyc	STXBP1	0.699857117	9.35E-05	Transport/cargo protein	BrainSpLMD|6812	SFARI||Autism, 3 - Suggestive evidence;OMIM|602926;HPO|6812|Absent speech, Ataxia, Autosomal dominant inheritance, Cerebral atrophy, Cerebral hypomyelination, Cutaneous photosensitivity, Developmental regression, EEG abnormality, EEG with burst suppression, Epileptic encephalopathy, Epileptic spasms, Febrile seizures, Focal clonic seizures, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic seizures, Generalized tonic-clonic seizures, Hypoplasia of the corpus callosum, Hypsarrhythmia, Impaired horizontal smooth pursuit, Infantile encephalopathy, Intellectual disability, severe, Muscular hypotonia, Neonatal onset, Neurodevelopmental delay, Obtundation status, Pschomotor retardation, Severe global developmental delay, Spastic paraplegia, Spastic tetraplegia, Status epilepticus, Tremor, Variable expressivity
Glyc	FOXRED1	0.667047685	9.42E-05	Unclassified	BrainSpLMD|55572	OMIM|613622;HPO|55572|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, CNS demyelination, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Dysarthria, Dystonia, Emotional lability, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Gliosis, Global developmental delay, Growth delay, Hepatic failure, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Phenotypic variability, Pigmentary retinopathy, Progressive, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
Glyc	DGKE	0.993460708	9.53E-05	Enzyme: Phosphotransferase	BrainSpLMD|8526	OMIM|601440;HPO|8526|Acute kidney injury, Autosomal recessive inheritance, Nephrotic syndrome, Progressive, Proteinuria, Thickening of the glomerular basement membrane
Glyc	TMEM251	0.354629626	9.58E-05	Unclassified		
Glyc	GPR107	0.455741787	9.62E-05	G protein coupled receptor	BrainSpLMD|57720	
Glyc	ARL2	0.681369023	9.78E-05	GTPase		OMIM|601175
Glyc	BCAT1	0.592839273	9.90E-05	Enzyme: Aminotransferase	BrainSpLMD|586;Eurexp|euxassay_010499|brain, clavicle, facial VII, incisor, mandible, nasal septum, neural retina, orbito-sphenoid, rib, spinal cord, tongue, trigeminal V, turbinate bones;BrainSpMouseDev|11821	OMIM|113520
Glyc	CCDC25	0.281105935	9.91E-05	Unclassified	BrainSpLMD|55246	
Glyc	RP11.484D2.4	1.081596185	9.92E-05			
Glyc	LINC00632	0.699005872	9.98E-05			
Glyc	IDI1	0.337635444	0.000101286	Enzyme: Isomerase	BrainSpLMD|3422;Eurexp|euxassay_011601|adrenal gland, cervical, cervico-thoracic, clavicle, cortex, dorsal root ganglion, glossopharyngeal IX, hindgut, incisor, lobe, mandible, mantle layer, maxilla, midgut, molar, neural retina, olfactory, orbito-sphenoid, pancreas, rectum, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ	OMIM|604055
Glyc	VPS25	0.72443118	0.000103742	Transport/cargo protein	BrainSpLMD|84313	OMIM|610907
Glyc	ARL1	1.304442797	0.000104013	GTPase	BrainSpLMD|400	OMIM|603425
Glyc	NUBP2	0.924668315	0.000106948	Unclassified	BrainSpLMD|10101	OMIM|610779
Glyc	PAK3	0.513178755	0.000107656	Serine/threonine kinase	BrainSpLMD|5063	OMIM|300142;HPO|5063|Aggressive behavior, Agitation, Anteverted nares, Anxiety, Delayed gross motor development, Delayed speech and language development, Drooling, Flat face, High palate, Hyperactivity, Intellectual disability, Macrotia, Microcephaly, Open mouth, Psychosis, Seizures, Short attention span, Short nose, Thin upper lip vermilion, Variable expressivity, X-linked recessive inheritance
Glyc	PEX11B	0.762692998	0.000108075	Integral membrane protein	BrainSpLMD|8799	OMIM|603867;HPO|8799|Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the liver, Abnormality of the palate, Anteverted nares, Areflexia, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, Cataract, Chorioretinal abnormality, Clitoral hypertrophy, Cognitive impairment, Congenital cataract, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Death in infancy, Depressed nasal bridge, Developmental regression, Dolichocephaly, Dry skin, EEG abnormality, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Global developmental delay, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydrocele testis, Hydronephrosis, Hyperreflexia, Hypospadias, Intellectual disability, mild, Jaundice, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Migraine, Multicystic kidney dysplasia, Muscle weakness, Muscular hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Polymicrogyria, Polyneuropathy, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive hearing impairment, Progressive muscle weakness, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Respiratory insufficiency, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Skeletal dysplasia, Spasticity, Strabismus, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Urinary incontinence, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
Glyc	TFB2M	1.254404074	0.00010818	Transcription factor	BrainSpLMD|64216;Eurexp|euxassay_007769|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|15053	OMIM|607055
Glyc	HDAC6	1.254289343	0.000109913	Enzyme: Deacetylase	BrainSpLMD|10013;Eurexp|euxassay_013594|cortex, left lung, marginal layer, pancreas, right lung, thyroid;BrainSpMouseDev|14961	SFARI||Autism, No category;OMIM|300272;HPO|10013|Abnormality of the calcaneus, Death in infancy, Decreased skull ossification, Depressed nasal ridge, Distal shortening of limbs, Frontal bossing, Hydrocephalus, Hypoplasia of the calcaneus, Hypoplastic iliac wing, Intellectual disability, mild, Intrauterine growth retardation, Low-set ears, Macrocephaly, Metaphyseal chondrodysplasia, Metaphyseal cupping of metacarpals, Metaphyseal cupping of proximal phalanges, Microphthalmia, Platyspondyly, Rhizomelia, Short foot, Short nose, Short palm, Short stature, Thin ribs, X-linked dominant inheritance
Glyc	SMG1P5	0.355234096	0.000110077			
Glyc	PRPF3	0.690202371	0.000111136	RNA binding protein	BrainSpLMD|9129	OMIM|607301;HPO|9129|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone dystrophy, Scotoma, Sensorineural hearing impairment, Wide nasal bridge
Glyc	PARP2	0.436281783	0.000112516	DNA binding protein;Enzyme: Ribosyltransferase	BrainSpLMD|10038	OMIM|607725
Glyc	SERINC3	0.298443699	0.000114293	Integral membrane protein	BrainSpLMD|10955;Eurexp|euxassay_004869|dorsal root ganglion, facial VII, glossopharyngeal IX, left, mandible, maxilla, medulla, orbito-sphenoid, right, testis, thymus primordium, trigeminal V	OMIM|607165
Glyc	ZNF12	0.794634697	0.000115437	DNA binding protein	BrainSpLMD|7559	OMIM|194536
Glyc	WDR43	0.624822153	0.00011583	Unclassified	Eurexp|euxassay_006414|axial muscle, clavicle, cortex, incisor, midgut, molar, submandibular gland primordium, thymus primordium, vibrissa	OMIM|616195
Glyc	TRMT112	0.566743828	0.000117318	Unclassified	BrainSpLMD|51504;Eurexp|euxassay_005921|embryo	
Glyc	EDEM3	0.274027264	0.000117743	Enzyme: Hydrolase	BrainSpLMD|80267	OMIM|610214
Glyc	SEC23B	0.682194965	0.000118559	Transport/cargo protein	BrainSpLMD|10483	OMIM|610512;HPO|10483|Abnormality of the penis, Adenoma sebaceum, Anemia of inadequate production, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast carcinoma, Cavernous hemangioma, Cholelithiasis, Cognitive impairment, Colorectal polyposis, Conjunctival hamartoma, Ductal carcinoma in situ, Endopolyploidy on chromosome studies of bone marrow, Furrowed tongue, Generalized hyperkeratosis, Global developmental delay, Goiter, Hamartomatous polyposis, Hashimoto thyroiditis, Hemangioma, Intellectual disability, Intestinal polyposis, Jaundice, Lipoma, Macrocephaly, Macroglossia, Macule, Melanocytic nevus, Meningioma, Mucosal telangiectasiae, Palmoplantar keratoderma, Papilloma, Papule, Reduced activity of N-acetylglucosaminyltransferase II, Reticulocytosis, Splenomegaly, Subcutaneous nodule, Trichilemmoma
Glyc	SHISA5	0.317183761	0.000118733	Integral membrane protein	BrainSpLMD|51246	OMIM|607290
Glyc	KDM5A	0.333994787	0.000118936	Transcription regulatory protein	BrainSpLMD|5927;Eurexp|euxassay_011985|epithelium, oral epithelium, submandibular gland primordium, vibrissa	OMIM|180202;COSMIC||AML
Glyc	SSR3	0.317188177	0.000122424	Membrane transport protein	BrainSpLMD|6747	OMIM|606213
Glyc	LINC00116	0.560177983	0.000124979			
Glyc	LRIG2	0.709272726	0.000127776	Cell surface receptor	BrainSpLMD|9860	OMIM|608869;HPO|9860|Autosomal recessive inheritance, Constipation, Cryptorchidism, Enuresis, Hydronephrosis, Recurrent urinary tract infections, Renal insufficiency, Urethral obstruction, Urinary incontinence, Urinary urgency, Vesicoureteral reflux
Glyc	HERPUD1	0.440389743	0.000128011	Integral membrane protein	BrainSpLMD|9709;Eurexp|euxassay_005097|clavicle, mandible, maxilla, olfactory, orbito-sphenoid	OMIM|608070;COSMIC||prostate
Glyc	MPC2	0.457116392	0.00012878	Unclassified	BrainSpLMD|25874	OMIM|614737
Glyc	FASTKD3	0.923513348	0.000130757	Unclassified	BrainSpLMD|79072	OMIM|617530
Glyc	SLC25A4	0.523131951	0.000130767	Transport/cargo protein	BrainSpLMD|291	OMIM|103220;HPO|291|Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Congenital onset, Cytochrome C oxidase-negative muscle fibers, EMG: myopathic abnormalities, Exercise intolerance, Facial palsy, Generalized hypotonia, Generalized muscle weakness, Heterogeneous, Hypertrophic cardiomyopathy, Hyporeflexia, Lactic acidosis, Multiple mitochondrial DNA deletions, Myalgia, Myopathy, Myopia, Nystagmus, Progressive, Progressive external ophthalmoplegia, Ptosis, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Slow progression, Strabismus, Subsarcolemmal accumulations of abnormally shaped mitochondria
Glyc	FAM177A1	0.473077859	0.000130803	Unclassified	BrainSpLMD|283635	
Glyc	ZNF25	0.286060042	0.000131747	Transcription factor	BrainSpLMD|219749	OMIM|194528
Glyc	DUSP8	0.281564071	0.0001319	Dual specificity phosphatase	BrainSpLMD|1850	OMIM|602038
Glyc	CEP57	0.568201224	0.000133525	Transport/cargo protein	BrainSpLMD|9702;Eurexp|euxassay_006338|ventricular layer	OMIM|607951;HPO|9702|Abnormality of vision, Aortic regurgitation, Ascites, Atrial septal defect, Autosomal recessive inheritance, Cataract, Clinodactyly, Coarctation of aorta, Corneal opacity, Dandy-Walker malformation, Epicanthus, Generalized hypotonia, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Intrauterine growth retardation, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Phenotypic variability, Polyhydramnios, Short stature, Small for gestational age, Subvalvular aortic stenosis, Triangular face, Ventricular septal defect
Glyc	ATP8B2	0.884033671	0.000136324	ATPase	BrainSpLMD|57198;Eurexp|euxassay_007731|axial skeleton, basioccipital bone, basisphenoid bone, bladder, clavicle, footplate, handplate, mandible, mantle layer, maxilla, mesenchyme, nasal septum, orbito-sphenoid, otic capsule, paraxial mesenchyme, pelvic girdle, petrous part, primitive seminiferous tubules, rib, sternum, turbinate bones, vault of skull, ventral grey horn	OMIM|605867
Glyc	RNMT	0.422804914	0.000136628	RNA methyltransferase	BrainSpLMD|8731;Eurexp|euxassay_013666|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mandible, maxilla, metanephros, molar, testis, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|603514
Glyc	SNCA	1.146564132	0.000137572	Chaperone	BrainSpLMD|6622;BrainSpMouseDev|20379	OMIM|163890;HPO|6622|Autosomal dominant inheritance, Bradykinesia, Delusions, Dementia, Depressivity, Dysarthria, Dysautonomia, Dysphagia, Dystonia, Fluctuations in consciousness, Hallucinations, Hypokinesia, Insidious onset, Lewy bodies, Mental deterioration, Middle age onset, Myoclonus, Orthostatic hypotension, Paranoia, Parkinsonism, Postural instability, Progressive, Rapidly progressive, Resting tremor, Rigidity, Shuffling gait, Sleep disturbance, Urinary urgency, Visual hallucinations, Weight loss
Glyc	MED28	0.648462261	0.000138899	Transcription regulatory protein	BrainSpLMD|80306	OMIM|610311
Glyc	ZFAS1	0.460855375	0.000139001			
Glyc	FHL1	0.771081537	0.000143556	Unclassified	BrainSpLMD|2273;Eurexp|euxassay_018418|bladder, brain, diaphragm, dorsal root ganglion, head mesenchyme, limb, penis, rectum, spinal cord, tongue, vertebral axis muscle system	OMIM|300163;HPO|2273|Adult onset, Areflexia, Arrhythmia, Back pain, Elevated serum creatine phosphokinase, Flexion contracture, Foot dorsiflexor weakness, Frequent falls, Hyperlordosis, Hypertrophic cardiomyopathy, Hyporeflexia, Increased variability in muscle fiber diameter, Kyphosis, Lower limb muscle weakness, Myofibrillar myopathy, Progressive, Proximal muscle weakness, Rapidly progressive, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Rimmed vacuoles, Scapular winging, Scapuloperoneal myopathy, Scapuloperoneal weakness, Scoliosis, Short neck, Skeletal muscle atrophy, Spinal rigidity, Steppage gait, Waddling gait, X-linked dominant inheritance, X-linked inheritance, X-linked recessive inheritance
Glyc	DYNC2LI1	0.426619863	0.000144085	Motor protein	BrainSpLMD|51626	OMIM|617083;HPO|51626|Abnormality of oral frenula, Abnormality of oral mucosa, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the fingernails, Abnormality of the heart valves, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Aplasia/Hypoplasia of the lungs, Atrial septal defect, Atrioventricular canal defect, Autosomal recessive inheritance, Brachydactyly, Capitate-hamate fusion, Cone-shaped epiphysis, Conical incisor, Cryptorchidism, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Epispadias, Failure to thrive, Foot polydactyly, Genu valgum, Hand polydactyly, Hepatomegaly, Horizontal ribs, Hypodontia, Hypoplastic toenails, Hypospadias, Intrauterine growth retardation, Low-set ears, Microdontia, Micromelia, Nail dysplasia, Narrow chest, Neonatal short-limb short stature, Polyhydramnios, Postaxial hand polydactyly, Respiratory insufficiency, Short distal phalanx of finger, Short foot, Short ribs, Short stature, Short thorax, Situs inversus totalis, Skeletal dysplasia, Splenomegaly, Strabismus, Ventricular septal defect
Glyc	SNAP47	1.456443197	0.000144963	Unclassified	BrainSpLMD|116841	
Glyc	GPX4	0.861247932	0.000149683	Enzyme: Peroxidase	BrainSpLMD|2879	OMIM|138322;HPO|2879|11 pairs of ribs, Abnormality of the ribs, Abnormality of the scapula, Arrhythmia, Atrial septal defect, Atrioventricular block, Autosomal recessive inheritance, Brachydactyly, Cardiorespiratory arrest, Cerebellar hypoplasia, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped metacarpal epiphyses, Cupped ribs, Delayed epiphyseal ossification, Delayed skeletal maturation, Depressed nasal bridge, Flared iliac wings, Flat acetabular roof, Focal lissencephaly, Generalized hypotonia, Iliac crest serration, Irregular tarsal bones, Large posterior fontanelle, Long fibula, Metaphyseal chondrodysplasia, Metaphyseal cupping, Metaphyseal irregularity, Muscular hypotonia, Narrow chest, Narrow greater sacrosciatic notches, Platyspondyly, Porencephalic cyst, Posteriorly rotated ears, Redundant skin, Rhizomelia, Rhizomelic arm shortening, Short finger, Short long bone, Short metacarpal, Short neck, Short palm, Short phalanx of finger, Short ribs, Short toe, Spondylometaphyseal dysplasia, Talipes equinovarus, Turricephaly, Widened sacrosciatic notch
Glyc	ZIC2	1.032017717	0.000150007	Transcription regulatory protein	BrainSpLMD|7546;BrainSpMouseDev|22529	OMIM|603073;HPO|7546|Abnormal facial shape, Autosomal dominant inheritance, Global developmental delay, Holoprosencephaly, Hydrocephalus, Intellectual disability, Microcephaly, Synophrys, Trigonocephaly
Glyc	SEC63	0.469202026	0.000150675	Transport/cargo protein	BrainSpLMD|11231	OMIM|608648;HPO|11231|Abdominal distention, Abnormality of the cardiovascular system, Abnormality of the nervous system, Adult onset, Ascites, Autosomal dominant inheritance, Back pain, Hepatic cysts, Hepatomegaly, Increased total bilirubin, Multiple renal cysts, Polycystic liver disease, Renal cyst
Glyc	LINC00657	0.777021968	0.000151287			
Glyc	MAK	0.615132763	0.000152443	Serine/threonine kinase	BrainSpLMD|4117	OMIM|154235;HPO|4117|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Visual field defect, Wide nasal bridge
Glyc	LRPPRC	0.642959531	0.000153592	RNA binding protein	BrainSpLMD|10128	SFARI||Autism, No category;OMIM|607544;HPO|10128|Anteverted nares, Ataxia, Autosomal recessive inheritance, CNS demyelination, Delayed speech and language development, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Highly arched eyebrow, Hirsutism, Hyperglycemia, Hypertelorism, Hypoglycemia, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased serum lactate, Infantile onset, Lactic acidosis, Low anterior hairline, Malar flattening, Microvesicular hepatic steatosis, Midface retrusion, Peripheral demyelination, Prominent forehead, Strabismus, Tachypnea, Tremor, Wide nasal bridge
Glyc	BNIP3L	0.604539224	0.000155487	Cell cycle control protein	BrainSpLMD|665;Eurexp|euxassay_002684|thymus primordium	OMIM|605368
Glyc	EGLN3	1.382416712	0.000158129	Ubiquitin proteasome system protein	BrainSpLMD|112399	OMIM|606426
Glyc	KIAA1958	0.522377134	0.000159468	Unclassified	Eurexp|euxassay_000143|neural retina	OMIM|617390
Glyc	BLOC1S2	0.68827339	0.000160934	Unclassified	BrainSpLMD|282991	OMIM|609768
Glyc	SSB	0.451452963	0.000164179	RNA binding protein	BrainSpLMD|6741	OMIM|109090
Glyc	ORC3	0.663696678	0.000164785	DNA binding protein	BrainSpLMD|23595	OMIM|604972
Glyc	ZNF586	1.118122904	0.000165906	Transcription regulatory protein	BrainSpLMD|54807	
Glyc	DRAM2	0.627167167	0.000167023	Unclassified	BrainSpLMD|128338;Eurexp|euxassay_012617|dorsal grey horn	OMIM|613360;HPO|128338|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal recessive inheritance, Macular atrophy, Nyctalopia, Photophobia, Reduced visual acuity
Glyc	PHPT1	0.689889026	0.000168304	Enzyme: Phosphatase	BrainSpLMD|29085	OMIM|610167
Glyc	ZC3H6	0.441683851	0.000168774	DNA binding protein	BrainSpLMD|376940	
Glyc	NSA2	0.31165132	0.000170892	Unclassified		OMIM|612497
Glyc	POU2F2	0.704072247	0.000173412	Transcription factor	BrainSpLMD|5452;Eurexp|euxassay_019622|mantle layer;BrainSpMouseDev|18750	OMIM|164176
Glyc	HSPA13	0.542499077	0.000175197	Chaperone	BrainSpLMD|6782	OMIM|601100
Glyc	ERCC5	0.811130917	0.000179159	DNA repair protein	BrainSpLMD|2073	OMIM|133530;COSMIC||skin basal cell, skin squamous cell, melanoma;HPO|2073|Abnormal nasal morphology, Abnormality of amino acid metabolism, Abnormality of immune system physiology, Abnormality of the dentition, Aplasia/Hypoplasia of the cerebellum, Arteriosclerosis, Arthralgia, Arthrogryposis multiplex congenita, Ataxia, Autosomal recessive inheritance, Basal cell carcinoma, Cachexia, Camptodactyly of finger, Cataract, Cerebral calcification, Cerebral cortical atrophy, Cognitive impairment, Confusion, Conjunctival telangiectasia, Cryptorchidism, Cutaneous photosensitivity, Death in infancy, Decreased fetal movement, Defective DNA repair after ultraviolet radiation damage, Demyelinating peripheral neuropathy, Dermal atrophy, Developmental regression, Diplopia, Dry skin, Dysarthria, EEG abnormality, Edema, Erythema, Everted lower lip vermilion, Failure to thrive, Fatigue, Feeding difficulties in infancy, Fever, Freckling, Global developmental delay, Hearing impairment, Hydrocephalus, Hyperkeratosis, Hypermelanotic macule, Hypertonia, Hypogonadism, Hypopigmented skin patches, Intellectual disability, Intellectual disability, progressive, Intrauterine growth retardation, Joint stiffness, Keratitis, Low-set ears, Melanoma, Microcephaly, Micrognathia, Microphthalmia, Muscular hypotonia, Numerous pigmented freckles, Nystagmus, Optic atrophy, Papilloma, Poikiloderma, Prematurely aged appearance, Prominent metopic ridge, Reduced tendon reflexes, Retinopathy, Rocker bottom foot, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Short neck, Short stature, Skin rash, Spasticity, Squamous cell carcinoma of the skin, Strabismus, Talipes equinovarus, Telangiectasia of the skin, Thin skin, Urticaria, Variable expressivity, Visual impairment, Wide nasal bridge
Glyc	USP33	0.251724657	0.000181545	Ubiquitin proteasome system protein	BrainSpLMD|23032	OMIM|615146
Glyc	KXD1	0.858397342	0.00018338	Unclassified	BrainSpLMD|79036	OMIM|615178
Glyc	MEA1	0.88360645	0.000188131	Unclassified	BrainSpLMD|4201	OMIM|143170
Glyc	TAX1BP1	0.421374905	0.000189022	Transcription factor	BrainSpLMD|8887	OMIM|605326
Glyc	TMEM30A	0.693890498	0.000190839	Integral membrane protein	BrainSpLMD|55754	OMIM|611028
Glyc	ZNF506	0.588971066	0.000191123	Transcription factor	BrainSpLMD|440515	
Glyc	DAD1	0.542369879	0.000192542	Adapter molecule	BrainSpLMD|1603;Eurexp|euxassay_012117|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|600243
Glyc	GAPDH	0.837288172	0.000196473	Enzyme: Dehydrogenase		OMIM|138400
Glyc	KPNA5	0.561575417	0.000196756	Transport/cargo protein	BrainSpLMD|3841	OMIM|604545
Glyc	THAP5	0.286514135	0.000198106	DNA binding protein	BrainSpLMD|168451	OMIM|612534
Glyc	SV2A	0.493902234	0.000200878	Integral membrane protein	BrainSpLMD|9900	OMIM|185860
Glyc	TMEM175	0.453653132	0.000200995	Unclassified	BrainSpLMD|84286	OMIM|616660
Glyc	RBMX2	1.508196672	0.000202003	RNA binding protein	BrainSpLMD|51634	
Glyc	PAPOLA	0.591087394	0.000204111	RNA binding protein	BrainSpLMD|10914	OMIM|605553
Glyc	RP11.1114A5.4	0.543253742	0.000205882			
Glyc	IFT20	0.314121598	0.000207232	Unclassified	BrainSpLMD|90410	OMIM|614394
Glyc	USP14	0.6421879	0.000210471	Ubiquitin proteasome system protein	BrainSpLMD|9097;Eurexp|euxassay_002729|axial muscle, basal plate, dorsal root ganglion, marginal layer, trigeminal V	OMIM|607274
Glyc	CREBRF	0.570293531	0.000215073	DNA binding protein	BrainSpLMD|153222	OMIM|617109
Glyc	SREK1IP1	0.678860628	0.00021626	Regulatory/other subunit	BrainSpLMD|285672	
Glyc	SNHG3	0.472785325	0.000218033			OMIM|603238
Glyc	CPNE1	0.455196172	0.000218329	Transport/cargo protein	BrainSpLMD|8904	OMIM|604205
Glyc	ZCCHC7	0.446065338	0.000218991	DNA binding protein	BrainSpLMD|84186;Eurexp|euxassay_017848|mantle layer	
Glyc	BLOC1S3	0.771905786	0.000219077	Unclassified	BrainSpLMD|388552	OMIM|609762;HPO|388552|Albinism, Autosomal recessive inheritance, Bruising susceptibility, Ocular albinism, Visual impairment
Glyc	NEK5	1.111228131	0.000221457	Serine/threonine kinase	BrainSpLMD|341676;Eurexp|euxassay_011536|choroid invagination, choroid plexus, roof plate	OMIM|616731
Glyc	PNMA2	0.491471436	0.000230313	Unclassified	BrainSpLMD|10687;Eurexp|euxassay_005514|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|603970
Glyc	LYSMD1	0.756937107	0.000231862	Unclassified	BrainSpLMD|388695	
Glyc	SPTY2D1	1.494986177	0.000235723	Unclassified	BrainSpLMD|144108	
Glyc	CCDC30	0.76503514	0.000236458	Cytoskeletal protein	BrainSpLMD|728621;Eurexp|euxassay_014067|choroid plexus, pancreas	
Glyc	EXD2	1.263496152	0.000238922	DNA exonuclease	BrainSpLMD|55218;Eurexp|euxassay_004316|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|616940
Glyc	MED10	0.975569863	0.00023973	Transcription regulatory protein	BrainSpLMD|84246	OMIM|612382
Glyc	ZCCHC11	0.355355434	0.000245478	DNA binding protein	BrainSpLMD|23318	OMIM|613692
Glyc	ALKBH5	0.675088291	0.000247018	Unclassified	BrainSpLMD|54890	OMIM|613303
Glyc	GNAI3	0.401949658	0.000249464	G protein	BrainSpLMD|2773	OMIM|139370;HPO|2773|Anterior open-bite malocclusion, Apnea, Autosomal dominant inheritance, Chewing difficulties, Cleft at the superior portion of the pinna, Cleft palate, Cupped ear, Dental crowding, Dental malocclusion, Hypoplastic superior helix, Low-set ears, Macrocephaly, Mandibular condyle aplasia, Mandibular condyle hypoplasia, Overfolding of the superior helices, Postauricular skin tag, Posteriorly rotated ears, Preauricular skin tag, Round face, Snoring, Speech articulation difficulties
Glyc	GDPD1	0.469472347	0.000252325	Enzyme: Catalase	BrainSpLMD|284161;Eurexp|euxassay_009145|bladder, brain, calyces, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, medulla, midgut, molar, olfactory, rectum, retina, spinal cord, stomach, submandibular gland primordium, thoracic, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|616317
Glyc	MTHFR	0.594351751	0.000252469	Enzyme: Oxidoreductase	BrainSpLMD|4524	SFARI||Autism, 4 - Minimal evidence;OMIM|607093;HPO|4524|Anencephaly, Autosomal recessive inheritance, Behavioral abnormality, Gait disturbance, Global developmental delay, Homocystinuria, Hyperhomocystinemia, Incoordination, Microcephaly, Muscle weakness, Paresthesia, Primary adrenal insufficiency, Seizures, Stroke
Glyc	NFAT5	0.326978392	0.000252786	Transcription factor	BrainSpLMD|10725;BrainSpMouseDev|33737	OMIM|604708
Glyc	C1orf174	0.502189512	0.00025337	Unclassified	BrainSpLMD|339448	
Glyc	CDK11A	0.426054856	0.000254874		BrainSpLMD|728642	OMIM|116951
Glyc	BBS4	0.502360884	0.000259399	Unclassified	BrainSpLMD|585	SFARI||Autism, No category;OMIM|600374;HPO|585|Abnormal electroretinogram, Asthma, Ataxia, Autosomal recessive inheritance, Biliary tract abnormality, Brachydactyly, Broad foot, Congenital primary aphakia, Cryptorchidism, Decreased testicular size, Delayed speech and language development, Dental crowding, Diabetes mellitus, External genital hypoplasia, Foot polydactyly, Gait imbalance, Global developmental delay, Hepatic fibrosis, High, narrow palate, Hirsutism, Hypertension, Hypodontia, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Left ventricular hypertrophy, Multicystic kidney dysplasia, Nephrogenic diabetes insipidus, Neurological speech impairment, Nyctalopia, Nystagmus, Obesity, Pigmentary retinopathy, Polydactyly, Poor coordination, Postaxial hand polydactyly, Radial deviation of finger, Renal cyst, Retinal degeneration, Rod-cone dystrophy, Short foot, Short stature, Specific learning disability, Strabismus, Syndactyly
Glyc	COPA	0.696860267	0.000265433	Transport/cargo protein	BrainSpLMD|1314;Eurexp|euxassay_003303|clavicle, mandible, maxilla, rib	OMIM|601924
Glyc	ACBD5	0.466262677	0.000265748	Unclassified	BrainSpLMD|91452;Eurexp|euxassay_004319|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|616618
Glyc	PDXDC2P	0.741462331	0.000266201			
Glyc	TIPRL	0.531995899	0.000267585	Unclassified	BrainSpLMD|261726	OMIM|611807
Glyc	KIN	0.308798589	0.000269967	DNA binding protein	BrainSpLMD|22944;Eurexp|euxassay_006539|embryo	OMIM|601720
Glyc	OXCT1	0.432918286	0.000270243	Enzyme: CoA transferase	BrainSpLMD|5019	OMIM|601424;HPO|5019|Autosomal recessive inheritance, Episodic ketoacidosis, Ketonuria, Tachypnea, Vomiting
Glyc	UVSSA	0.828654782	0.000270311	Unclassified	BrainSpLMD|57654	OMIM|614632;HPO|57654|Autosomal recessive inheritance, Cutaneous photosensitivity, Dry skin, Freckling, Increased cellular sensitivity to UV light, Infantile onset, Telangiectasia
Glyc	CHD2	0.356755535	0.000270417	DNA binding protein	BrainSpLMD|1106	SFARI||Autism, 2 - Strong candidate;OMIM|602119;COSMIC||melanoma, large intestine, CLL, monoclonal B lymphocytosis;HPO|1106|Abnormal brain FDG positron emission tomography, Abnormality of brainstem morphology, Absence seizures, Aggressive behavior, Ataxia, Atonic seizures, Atypical absence seizures, Autistic behavior, Autosomal dominant inheritance, Developmental regression, Dysarthria, EEG abnormality, EEG with abnormally slow frequencies, EEG with focal sharp slow waves, EEG with spike-wave complexes (>3.5 Hz), Encephalopathy, Epileptic encephalopathy, Falls, Febrile seizures, Generalized myoclonic seizures, Generalized tonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Hyperactivity, Intellectual disability, Mental deterioration, Myoclonic atonic seizures, Myoclonus, Personality disorder, Status epilepticus
Glyc	MTF1	0.789304311	0.000271077	Transcription factor	BrainSpMouseDev|17531	SFARI||Autism, 4 - Minimal evidence;OMIM|600172
Glyc	ZBTB8OS	0.731394786	0.000271346	Unclassified	BrainSpLMD|339487	OMIM|615891
Glyc	TRAPPC11	0.80124001	0.000272374	Unclassified	BrainSpLMD|60684	OMIM|614138;HPO|60684|Achalasia, Adrenal insufficiency, Ataxia, Athetosis, Autosomal recessive inheritance, Cataract, Chorea, Difficulty walking, Dystonia, Elevated serum creatine phosphokinase, Generalized hyperpigmentation, Generalized hypotonia, Global developmental delay, Gowers sign, Hip dysplasia, Hyperlordosis, Inability to walk, Intellectual disability, Limb-girdle muscular dystrophy, Microcephaly, Muscle cramps, Myalgia, Myopia, Palmoplantar keratoderma, Phenotypic variability, Poor speech, Scoliosis, Seizures, Short stature, Strabismus, Tremor, Visual impairment, Waddling gait
Glyc	PEG10	0.927444638	0.000272409	Cell cycle control protein	BrainSpLMD|23089;BrainSpMouseDev|81989	OMIM|609810
Glyc	CBLL1	0.753813764	0.000273269	Ubiquitin proteasome system protein	BrainSpLMD|79872;Eurexp|euxassay_012773|ventricle	OMIM|606872
Glyc	KIAA1143	0.643406724	0.000277639	Unclassified		
Glyc	SNX4	0.342214014	0.000281214	Transport/cargo protein	BrainSpLMD|8723	OMIM|605931
Glyc	GORASP2	1.140233322	0.000281525	Transport/cargo protein	BrainSpLMD|26003	OMIM|608693
Glyc	BLCAP	0.606415191	0.000282087	Integral membrane protein	BrainSpLMD|10904;Eurexp|euxassay_005827|brain, spinal cord	OMIM|613110
Glyc	MAP3K7	0.873665063	0.000284138	Serine/threonine kinase	BrainSpLMD|6885;BrainSpMouseDev|26157	OMIM|602614;HPO|6885|Abnormal form of the vertebral bodies, Abnormality of dental morphology, Abnormality of the dentition, Abnormality of the metaphysis, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Anteverted nares, Autosomal dominant inheritance, Bicuspid aortic valve, Bowing of the long bones, Brachydactyly, Broad nasal tip, Camptodactyly, Camptodactyly of finger, Carpal synostosis, Conductive hearing impairment, Cone-shaped epiphysis, Congenital hip dislocation, Congenital sensorineural hearing impairment, Craniofacial hyperostosis, Decreased testicular size, Deep philtrum, Delayed skeletal maturation, Depressed nasal bridge, Dislocated radial head, Downslanted palpebral fissures, Elbow dislocation, Failure to thrive, Freckling, Full cheeks, Fused cervical vertebrae, Gastroesophageal reflux, High palate, Hip contracture, Hypertelorism, Hypoplasia of the musculature, Irregular metacarpals, Joint laxity, Joint stiffness, Long fingers, Long metacarpals, Long philtrum, Micrognathia, Mitral regurgitation, Patent ductus arteriosus, Patent foramen ovale, Pointed chin, Posterior vertebral hypoplasia, Posteriorly rotated ears, Prominent supraorbital ridges, Pseudoepiphyses, Pulmonic stenosis, Recurrent otitis media, Reduced number of teeth, Rib fusion, Scoliosis, Sensorineural hearing impairment, Short distal phalanx of hallux, Short distal phalanx of the thumb, Short foot, Short metacarpal, Short metatarsal, Short philtrum, Short stature, Strabismus, Subglottic stenosis, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Telecanthus, Thick eyebrow, Tracheal stenosis, Ulnar deviation of finger, Ulnar deviation of the hand, Upslanted palpebral fissure, Vesicoureteral reflux, Wide nasal bridge
Glyc	NAPA	0.615023146	0.000284378	Adapter molecule	BrainSpLMD|8775	OMIM|603215
Glyc	TBC1D15	0.447497644	0.000284831	GTPase activating protein	BrainSpLMD|64786	OMIM|612662
Glyc	HOMER2	0.278080854	0.00028539	Unclassified	BrainSpLMD|9455;Eurexp|euxassay_009975|dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, mantle layer, marginal layer, olfactory, right lung, trigeminal V, vagus X, ventral grey horn, vomeronasal organ	OMIM|604799;HPO|9455|Autosomal dominant inheritance
Glyc	COPG1	0.675049722	0.000285806	Transport/cargo protein	BrainSpLMD|22820;Eurexp|euxassay_010470|clavicle, mandible, maxilla, orbito-sphenoid, rib, turbinate	OMIM|615525
Glyc	PAIP2B	0.618515684	0.000290637	Translation regulatory protein	Eurexp|euxassay_007045|embryo	OMIM|611018
Glyc	PAX6	0.301742055	0.000292474	Transcription factor	BrainSpLMD|5080;BrainSpMouseDev|18274	SFARI||Autism, No category;OMIM|607108;HPO|5080|Abnormal best corrected visual acuity test, Abnormality of movement, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the vagina, Abnormality of vision, Amblyopia, Aniridia, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the macula, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Cerebellar hypoplasia, Chorioretinal coloboma, Congenital glaucoma, Congenital nystagmus, Contiguous gene syndrome, Corneal opacity, Cryptorchidism, Displacement of the external urethral meatus, EEG abnormality, Everted lower lip vermilion, Generalized hyperpigmentation, Glaucoma, Global developmental delay, Hearing abnormality, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Hypoplasia of the iris, Hypospadias, Intellectual disability, Keratitis, Mask-like facies, Microcephaly, Micrognathia, Motor delay, Muscular hypotonia, Nephroblastoma, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Optic disc hypoplasia, Optic nerve aplasia, Optic nerve coloboma, Optic nerve hypoplasia, Peripheral vitreous opacities, Peters anomaly, Postural tremor, Presenile cataracts, Pseudopapilledema, Ptosis, Reduced visual acuity, Retinal detachment, Scanning speech, Short stature, Slurred speech, Somatic mutation, Strabismus, Streak ovary, Visual impairment, Visual loss
Glyc	ANGEL2	0.810749319	0.000295553	Unclassified	BrainSpLMD|90806	
Glyc	GSTM3	0.446966587	0.000299031	Enzyme: Glutathione transferase	BrainSpLMD|2947;Eurexp|euxassay_018935|atrio-ventricular canal, axial muscle, basioccipital bone, basisphenoid bone, brain, central nervous system, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, labyrinth, lens, liver, mantle layer, nasal septum, neural retina, nucleus pulposus, olfactory, orbito-sphenoid, otic capsule, renal/urinary system, sphenoid, spinal cord, testis, trigeminal V, turbinate bones, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|138390
Glyc	ATP1A3	2.050869295	0.00029922	Transport/cargo protein	BrainSpLMD|478	SFARI||Autism, No category;OMIM|182350;HPO|478|Anxiety, Areflexia, Ataxia, Autosomal dominant inheritance, Blindness, Bradykinesia, Choreoathetosis, Depressivity, Drooling, Dysarthria, Dysmetria, Dysphagia, Dystonia, Emotional lability, Episodic ataxia, Episodic generalized hypotonia, Episodic quadriplegia, Gait ataxia, Global developmental delay, Hemiparesis, Hemiplegia, Hypomimic face, Incomplete penetrance, Intellectual disability, Mental deterioration, Muscle weakness, Mutism, Nystagmus, Optic atrophy, Parkinsonism, Pes cavus, Postural instability, Progressive sensorineural hearing impairment, Progressive visual loss, Status epilepticus, Torticollis, Truncal ataxia, Unsteady gait, Young adult onset
Glyc	CDC5L	0.35078321	0.000301479	Cell cycle control protein	BrainSpLMD|988	OMIM|602868
Glyc	HSPA9	0.519645624	0.000305777	Chaperone	BrainSpLMD|3313	OMIM|600548;HPO|3313|Agenesis of corpus callosum, Atopic dermatitis, Autosomal dominant inheritance, Autosomal recessive inheritance, Brachycephaly, Coronal cleft vertebrae, Dysplasia of the femoral head, Epiphyseal dysplasia, High palate, Highly arched eyebrow, Hypodontia, Midface retrusion, Oligohydramnios, Patent foramen ovale, Recurrent urinary tract infections, Renal hypoplasia, Severe short stature, Short neck, Short nose, Sideroblastic anemia, Sparse hair
Glyc	CISD2	0.577617931	0.000309043	Unclassified	BrainSpLMD|493856	OMIM|611507;HPO|493856|Abnormal bleeding, Abnormality of mesentery morphology, Ataxia, Autosomal recessive inheritance, Depressivity, Diabetes insipidus, Diabetes mellitus, Dysarthria, Dysuria, Feeding difficulties in infancy, Impaired collagen-induced platelet aggregation, Nephropathy, Nystagmus, Optic atrophy, Optic neuropathy, Polydipsia, Recurrent urinary tract infections, Seizures, Sensorineural hearing impairment
Glyc	CUL2	1.187067225	0.000310741	Ubiquitin proteasome system protein	BrainSpLMD|8453;Eurexp|euxassay_002364|cervical, cervico-thoracic, dorsal root ganglion, thoracic, trigeminal V	OMIM|603135
Glyc	THAP9.AS1	0.546954653	0.000312222			
Glyc	SEC61G	0.739541651	0.000313974	Transport/cargo protein	BrainSpLMD|23480	OMIM|609215
Glyc	SMG5	0.75134281	0.000316424	Unclassified	BrainSpLMD|23381	OMIM|610962
Glyc	DEAF1	1.549804146	0.000317101	Transcription regulatory protein	BrainSpLMD|10522;Eurexp|euxassay_012020|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, hip, humerus, nasal septum, orbito-sphenoid, otic capsule, radius, rib, scapula, temporal bone, tibia, turbinate, ulna;BrainSpMouseDev|33299	SFARI||Autism, 2 - Strong candidate;OMIM|602635;HPO|10522|Abnormal form of the vertebral bodies, Abnormality of cardiovascular system morphology, Abnormality of the tracheobronchial system, Absent speech, Aggressive behavior, Agitation, Anteverted nares, Anxiety, Aplasia/Hypoplasia of the corpus callosum, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Brachycephaly, Brachydactyly, Broad forehead, Chronic otitis media, Clinodactyly of the 5th finger, Conductive hearing impairment, Constipation, Corticospinal tract hypoplasia, Decreased fetal movement, Deeply set eye, Delayed eruption of primary teeth, Delayed speech and language development, Depressed nasal bridge, Dyskinesia, EEG abnormality, Failure to thrive in infancy, Feeding difficulties in infancy, Frontal bossing, Gait disturbance, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hoarse voice, Horizontal eyebrow, Hyperacusis, Hypercholesterolemia, Hypertelorism, Hypertriglyceridemia, Hyporeflexia, Impaired pain sensation, Infantile onset, Intellectual disability, Involuntary movements, Large face, Mandibular prognathia, Microcornea, Micrognathia, Midface retrusion, Mood swings, Muscular hypotonia, Myopia, Neurological speech impairment, Obesity, Open mouth, Pes planus, Poor eye contact, Recurrent infections, Scoliosis, Self-injurious behavior, Short nose, Short philtrum, Short stature, Sleep disturbance, Status epilepticus, Stereotypy, Strabismus, Synophrys, Taurodontia, Tented upper lip vermilion, Thick lower lip vermilion, Toe syndactyly, Upslanted palpebral fissure, Ventriculomegaly, Wide nasal bridge
Glyc	PDPR	1.052025473	0.000324431		BrainSpLMD|55066	
Glyc	SURF4	1.149364788	0.000328969	Membrane transport protein		OMIM|185660
Glyc	BBIP1	0.400847946	0.000338745			OMIM|613605;HPO|92482|Abnormal electroretinogram, Autosomal recessive inheritance, Brachydactyly, Cataract, Cognitive impairment, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Multicystic kidney dysplasia, Nystagmus, Obesity, Pigmentary retinopathy, Postaxial hand polydactyly, Renal insufficiency, Rod-cone dystrophy, Short stature
Glyc	CCDC104	0.600291911	0.000346769			
Glyc	LUC7L3	0.278563555	0.000349537	Transcription regulatory protein	BrainSpLMD|51747	OMIM|609434
Glyc	SLC39A9	0.783451372	0.000353649	Membrane transport protein	BrainSpLMD|55334	
Glyc	PRKAR2B	0.412317896	0.000355921	Serine/threonine kinase	BrainSpLMD|5577;Eurexp|euxassay_012279|adrenal gland, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, lobe, midbrain, neural retina, skeletal muscle, spinal cord, submandibular gland primordium, telencephalon, testis, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|176912
Glyc	MCTS1	0.301945561	0.000356002	Cell cycle control protein	BrainSpLMD|28985	OMIM|300587
Glyc	SEC61A2	0.279542483	0.00035937	Integral membrane protein	BrainSpLMD|55176	
Glyc	RHBDD2	0.701897976	0.000364829	Integral membrane protein	BrainSpLMD|57414	OMIM|615203
Glyc	PRR4	0.289857831	0.000371908	Unclassified	BrainSpLMD|11272	OMIM|605359
Glyc	SNRPGP10	0.847303748	0.000374849			
Glyc	COX17	0.383822794	0.000376907	Chaperone		OMIM|604813
Glyc	TMEM9	0.72965714	0.000376961	Integral membrane protein	BrainSpLMD|252839;Eurexp|euxassay_003611|choroid plexus, incisor, lateral recess, molar	OMIM|616877
Glyc	POLR3E	0.886247592	0.000377916	RNA polymerase	BrainSpLMD|55718;Eurexp|euxassay_003027|calyces, chondrocranium, foregut-midgut junction, hindgut, midgut, stomach, submandibular gland primordium	
Glyc	ATP1B1	0.517036785	0.00038333	ATPase	BrainSpLMD|481;Eurexp|euxassay_014734|adenohypophysis, alar columns, atrium, autonomic, basal columns, basal plate, body, calyces, cardiac muscle, cerebellum, cerebral cortex, choroid plexus, collecting ducts, corpus striatum, cortex, cortical region, diencephalic part of interventricular foramen, dorsal root ganglion, duodenum, endocardial cushion tissue, endocardial tissue, epithalamus, epithelium, excretory component, extraembryonic component, facial VII, forebrain, fundus, ganglion, gastro-oesophageal junction, glossopharyngeal IX, head, heart, hindbrain, hindgut, hypogastric plexus, hypothalamus, infundibulum, interventricular groove, intraventricular portion, laryngeal, lateral wall, lower, lumen, lung, mantle layer, marginal layer, median eminence, medulla oblongata, medullary tubules, metanephros, midbrain, midgut, nasal septum, neurohypophysis, olfactory, pancreas, pars anterior, pars intermedia, pars nervosa, pars tuberalis, pericardium, physiological umbilical hernia, pituitary, pons, pyloric antrum, pyloric region, respiratory, respiratory system, respiratory tract, rest of alar plate, rostral part, stomach, sulcus limitans, sympathetic, tail, tegmentum, telencephalon, testis, thalamus, thoracic, trigeminal V, turbinate bones, upper, vagus X, ventricular layer, vestibulocochlear VIII, visceral organ	OMIM|182330
Glyc	PDCD10	0.609174049	0.000384736	Unclassified	BrainSpLMD|11235	OMIM|609118;HPO|11235|Abnormality of the cerebrum, Cerebral hemorrhage, Focal T2 hyperintense brainstem lesion, Focal T2 hypointense brainstem lesion, Headache, Increased intracranial pressure, Meningioma, Neuroma, Paralysis, Scoliosis, Seizures
Glyc	MED31	0.26174939	0.000392449	Transcription regulatory protein	BrainSpLMD|51003	
Glyc	RAB22A	0.510211757	0.000393923	GTPase	BrainSpLMD|57403	OMIM|612966
Glyc	AC018720.10	1.193750244	0.000395228			
Glyc	FRRS1L	0.764136102	0.000400232	Integral membrane protein		OMIM|604574;HPO|23732|Absent speech, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Developmental regression, Epileptic encephalopathy, Gait disturbance, Generalized hypotonia, Global developmental delay, Intellectual disability, Myoclonus, Rigidity, Spasticity
Glyc	AGAP10	0.919696777	0.000401743			
Glyc	AIMP1	0.272394768	0.000404035	Cytokine	BrainSpLMD|9255	OMIM|603605;HPO|9255|Abnormal pyramidal signs, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Coarse facial features, Corpus callosum atrophy, Death in infancy, Diffuse cerebral sclerosis, EEG abnormality, Failure to thrive, Global brain atrophy, Global developmental delay, Kyphoscoliosis, Leukodystrophy, Microcephaly, Muscular hypotonia of the trunk, Premature birth, Progressive, Progressive flexion contractures, Projectile vomiting, Seizures, Spastic paraparesis, Sudanophilic leukodystrophy, Visual impairment
Glyc	KANTR	1.000880943	0.000409336			
Glyc	MAK16	0.723959393	0.000410963	RNA binding protein	BrainSpLMD|84549;Eurexp|euxassay_000636|Meckel's cartilage, calyces, chondrocranium, incisor, lobe, molar, submandibular gland primordium, thymus primordium, vibrissa	
Glyc	RP11.231C14.4	0.849843626	0.000416253			
Glyc	COG6	0.508959034	0.000418783	Structural protein	BrainSpLMD|57511	OMIM|606977;HPO|57511|Autosomal recessive inheritance, Carious teeth, Congenital onset, Death in infancy, Delayed speech and language development, Failure to thrive, Global developmental delay, Hypohidrosis, Hypoplasia of dental enamel, Intellectual disability, Loss of consciousness, Microcephaly, Palmoplantar hyperkeratosis, Seizures, Type II transferrin isoform profile
Glyc	SAR1B	0.614156761	0.00042554	GTPase	BrainSpLMD|51128;Eurexp|euxassay_005974|embryo	OMIM|607690;HPO|51128|Abdominal distention, Abnormality of blood and blood-forming tissues, Abnormality of the eye, Abnormality of vitamin metabolism, Autosomal recessive inheritance, Decreased circulating low-density lipoprotein levels, Diarrhea, Elevated hepatic transaminases, Failure to thrive, Growth delay, Hypoalbuminemia, Hypocholesterolemia, Impaired vibratory sensation, Increased hepatocellular lipid droplets, Infantile onset, Intellectual disability, Malnutrition, Reduced tendon reflexes, Retinopathy, Steatorrhea, Vomiting
Glyc	SLIT1	1.306011349	0.000434135	Ligand	BrainSpLMD|6585;BrainSpMouseDev|20324	OMIM|603742
Glyc	NPIPB11	1.425753973	0.000435211			
Glyc	CDKL1	1.201782677	0.000435941	Serine/threonine kinase	BrainSpLMD|8814;Eurexp|euxassay_009028|calyces, mantle layer	OMIM|603441
Glyc	TMED2	0.270156967	0.000439414	Transport/cargo protein	BrainSpLMD|10959	
Glyc	ZNF814	0.630823527	0.000439435	DNA binding protein		
Glyc	TM2D3	0.6736824	0.000454314	Integral membrane protein	BrainSpLMD|80213	OMIM|610014
Glyc	CBWD7	0.379004511	0.00045444			
Glyc	OSBPL2	0.954486501	0.000455484	Transport/cargo protein	BrainSpLMD|9885	OMIM|606731;HPO|9885|Autosomal dominant inheritance, Phenotypic variability, Sensorineural hearing impairment, Tinnitus
Glyc	KPNA1	0.61727648	0.000465476	Transport/cargo protein	BrainSpLMD|3836;Eurexp|euxassay_004798|adenohypophysis, adrenal gland, bladder, choroid invagination, conjunctival sac, epidermis, epithelium, inner ear, liver, lung, metanephros, midgut, naso-lacrimal duct, olfactory, pancreas, pericardium, pharyngo-tympanic tube, rectum, respiratory, stomach, submandibular gland primordium, thyroid, trachea, trigeminal V, urethra, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|600686
Glyc	ATP5G1	0.385945927	0.000466844			
Glyc	COPS7B	0.733507109	0.000468035	Unclassified	BrainSpLMD|64708;Eurexp|euxassay_011995|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, cervical region, femur, fibula, humerus, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones	OMIM|616010
Glyc	SEC22A	0.666471195	0.000474899	Transport/cargo protein	BrainSpLMD|26984	OMIM|612442
Glyc	SEC13	0.755550296	0.000475863	Transport/cargo protein	BrainSpLMD|6396;Eurexp|euxassay_004833|cranium, mandible, maxilla	OMIM|600152
Glyc	C12orf5	0.863771594	0.00047735			
Glyc	TTC32	0.959592626	0.000479059	Unclassified		
Glyc	MED7	0.325587643	0.000479122	Transcription factor	BrainSpLMD|9443	OMIM|605045
Glyc	ZNF331	1.049259775	0.000481969	DNA binding protein	BrainSpLMD|55422	OMIM|606043;COSMIC||follicular thyroid adenoma
Glyc	GTF2H2	0.301498631	0.000483672	Transcription factor	Eurexp|euxassay_019537|incisor, liver, lung, metanephros, midgut, pancreas, submandibular gland primordium, thymus primordium, vibrissa	OMIM|601748
Glyc	ARHGEF9	0.626033326	0.00048701	Guanine nucleotide exchange factor		SFARI||Autism, 4 - Minimal evidence;OMIM|300429;HPO|23229|Congenital onset, Epileptic encephalopathy, Exaggerated startle response, Hypertonia, Intellectual disability, progressive, Intellectual disability, severe, Seizures, X-linked recessive inheritance
Glyc	RP11.53O19.3	0.572058195	0.000487602			
Glyc	USP36	0.48416076	0.000497013	Ubiquitin proteasome system protein	BrainSpLMD|57602	OMIM|612543
Glyc	C11orf30	0.872067759	0.000497789			SFARI||Autism, 3 - Suggestive evidence
Glyc	TRIM16L	1.252476379	0.00049954	Unclassified		
Glyc	PPFIBP1	1.05789676	0.000511353	Anchor protein	BrainSpLMD|8496;BrainSpMouseDev|43376	OMIM|603141;COSMIC||Spitzoid tumour, inflammatory myofibroblastic tumour
Glyc	STAG3L4	0.941343069	0.000513785	Unclassified	BrainSpLMD|64940	
Glyc	ARHGEF10	0.455584595	0.000514052	Guanine nucleotide exchange factor	BrainSpLMD|9639	OMIM|608136;HPO|9639|Adult onset, Autosomal dominant inheritance, Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination
Glyc	EIF2B1	1.205496351	0.000515884	Translation regulatory protein	BrainSpLMD|1967;Eurexp|euxassay_000005|anterior epithelium, cerebral cortex, cervico-thoracic, chondrocranium, cortical region, dermis, dorsal root ganglion, epithelium, facial VII, frontal bone primordium, ganglion, glossopharyngeal IX, inferior, inter-parietal bone primordium, left lung, liver, lobe, lung, male, mantle layer, marginal layer, medulla oblongata, midbrain, middle, nucleus polposus, olfactory lobe, parietal bone, petrous part, physiological umbilical hernia, pineal primordium, squamous part, submandibular gland primordium, telencephalon, temporal bone, thoracic, tooth, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|606686;HPO|1967|Autosomal recessive inheritance, CNS demyelination, Cerebral hypomyelination, Cessation of head growth, Decreased circulating progesterone, Delusions, Developmental regression, Dysarthria, Emotional lability, Generalized hypotonia, Juvenile onset, Lethargy, Leukoencephalopathy, Macrocephaly, Memory impairment, Optic atrophy, Personality changes, Premature ovarian insufficiency, Primary gonadal insufficiency, Secondary amenorrhea, Seizures, Spasticity, Unsteady gait
Glyc	AC002056.3	0.487476165	0.000516745			
Glyc	SPTLC1	0.685898719	0.000521281	Enzyme: Palmitoyltransferase	BrainSpLMD|10558	OMIM|605712;HPO|10558|Abnormality of the skin, Areflexia, Autoamputation of foot, Autosomal dominant inheritance, Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Distal muscle weakness, Distal sensory impairment, Distal sensory loss of all modalities, Foot osteomyelitis, Hyporeflexia, Pes cavus, Sensorineural hearing impairment, Skeletal muscle atrophy
Glyc	NFASC	0.882862046	0.000523917	Adhesion molecule	BrainSpLMD|23114;Eurexp|euxassay_009740|brain, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|92672	OMIM|609145
Glyc	C22orf39	1.842365227	0.00052657	Unclassified	BrainSpLMD|128977	
Glyc	PRNP	1.247279547	0.000541072	Membrane bound ligand	BrainSpLMD|5621;Eurexp|euxassay_007857|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, mantle layer, metanephros, neural retina, olfactory, thoracic, tongue, trachea, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ;BrainSpMouseDev|18885	OMIM|176640;HPO|5621|Abdominal symptom, Adult onset, Aggressive behavior, Akinetic mutism, Anxiety, Apathy, Aphasia, Apnea, Apraxia, Areflexia, Astrocytosis, Ataxia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Babinski sign, Basal ganglia gliosis, Bradykinesia, Central nervous system degeneration, Cerebellar atrophy, Childhood onset, Chorea, Clumsiness, Confusion, Constipation, Deficit in phonologic short-term memory, Delusions, Dementia, Depressivity, Diffuse spongiform leukoencephalopathy, Diplopia, Dysarthria, Dysautonomia, Dysmetria, Dysphagia, EEG with persistent abnormal rhythmic activity, Emotional lability, Encephalopathy, Extrapyramidal muscular rigidity, Fever, Focal T2 hyperintense basal ganglia lesion, Gait ataxia, Gliosis, Global brain atrophy, Hallucinations, Hemiparesis, Hyperhidrosis, Hyperreflexia, Hypersomnia, Impaired smooth pursuit, Incoordination, Insomnia, Irritability, Jaw pain, Limb ataxia, Loss of facial expression, Lower limb muscle weakness, Memory impairment, Muscle weakness, Myoclonus, Neurofibrillary tangles, Neuronal loss in central nervous system, Parkinsonism, Perseveration, Personality changes, Phenotypic variability, Poor visual behavior for age, Progressive cerebellar ataxia, Progressive extrapyramidal muscular rigidity, Progressive forgetfulness, Psychosis, Rapidly progressive, Restlessness, Rigidity, Seizures, Senile plaques, Short attention span, Sleep disturbance, Slurred speech, Spastic dysarthria, Spastic hemiparesis, Spasticity, Specific learning disability, Stroke-like episode, Supranuclear gaze palsy, Tremor, Truncal ataxia, Unsteady gait, Urinary retention, Visual impairment, Weight loss
Glyc	GSK3B	0.436119369	0.000553639	Serine/threonine kinase	BrainSpLMD|2932;Eurexp|euxassay_004227|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, retina, spinal cord, thoracic, trigeminal V;BrainSpMouseDev|35917	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605004
Glyc	ATP5B	0.373259817	0.000555218			
Glyc	MTR	1.00602154	0.000559967	Enzyme: Methyltransferase	BrainSpLMD|4548	SFARI||Autism, 5 - Hypothesized but untested;OMIM|156570;HPO|4548|Autosomal recessive inheritance, Cerebral atrophy, Decreased methionine synthase activity, Decreased methylcobalamin, Failure to thrive, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Homocystinuria, Hyperhomocystinemia, Hypomethioninemia, Infantile onset, Intellectual disability, Megaloblastic anemia, Poor coordination, Seizures
Glyc	TAF12	0.815120449	0.000562273	Transcription factor	BrainSpLMD|6883	OMIM|600773
Glyc	KLHDC10	0.822575516	0.000563641	Unclassified	BrainSpLMD|23008	OMIM|615152
Glyc	DKFZP667B1610	0.757179915	0.00056606			
Glyc	RNF167	0.775061706	0.000570136	Ubiquitin proteasome system protein	BrainSpLMD|26001	OMIM|610431
Glyc	WASH3P	0.907969512	0.000572079	-	BrainSpLMD|374666	
Glyc	NME7	0.549657653	0.000585195	Enzyme: Phosphotransferase	BrainSpLMD|29922;Eurexp|euxassay_003414|4th ventricle, incisor, lung, metanephros, molar, olfactory, oral cavity, oral epithelium, oral region, pancreas, pharyngo-tympanic tube, respiratory, submandibular gland primordium, tongue, ventricular layer, vibrissa	OMIM|613465
Glyc	PDPK1	0.830311527	0.000594263	Serine/threonine kinase	BrainSpLMD|5170;Eurexp|euxassay_001988|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605213
Glyc	AKAP17A	0.526669471	0.000595376	Integral membrane protein		OMIM|465000
Glyc	TUB	0.641820371	0.00060012	Transcription regulatory protein	BrainSpLMD|7275	OMIM|601197;HPO|7275|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Astigmatism, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Myopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal dystrophy, Sensorineural hearing impairment, Visual impairment, Wide nasal bridge
Glyc	HNRNPH2	0.29312275	0.000600956	Ribonucleoprotein	BrainSpLMD|3188	SFARI||Autism, 4 - Minimal evidence;OMIM|300610;HPO|3188|Aggressive behavior, Anxiety, Ataxia, Autistic behavior, Constipation, Developmental regression, Epicanthus, Failure to thrive, Feeding difficulties, Gait disturbance, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, High palate, Hyperlordosis, Hypertelorism, Hypertonia, Hypotelorism, Intellectual disability, Joint laxity, Micrognathia, Obsessive-compulsive behavior, Pes planus, Scoliosis, Seizures, Short palpebral fissure, Short philtrum, Short stature, Thick vermilion border, Underdeveloped nasal alae, Wide mouth, X-linked dominant inheritance
Glyc	NDUFV3	0.623606286	0.000601448	Enzyme: Oxidoreductase	BrainSpLMD|4731;Eurexp|euxassay_003892|dorsal root ganglion, glossopharyngeal IX, trigeminal V	OMIM|602184
Glyc	ANKRD27	1.054796939	0.000602067	Unclassified	BrainSpLMD|84079	
Glyc	NQO2	0.43496091	0.000603823	Enzyme: Oxidoreductase	BrainSpLMD|4835;Eurexp|euxassay_018917|adenohypophysis	OMIM|160998
Glyc	RNU2.1	0.372077537	0.000609896			
Glyc	DHDDS	0.441441748	0.000617909	Enzyme: Prenyltransferase	BrainSpLMD|79947	OMIM|608172;HPO|79947|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
Glyc	SEC22C	0.561017671	0.000617971	Integral membrane protein	BrainSpLMD|9117	OMIM|604028
Glyc	NBPF1	0.848609754	0.000621482	Unclassified		OMIM|610501
Glyc	GPHN	0.822477936	0.000624439	Anchor protein;Unclassified	BrainSpLMD|10243;Eurexp|euxassay_000272|marginal layer, ventral grey horn	SFARI||Autism, 3 - Suggestive evidence;OMIM|603930;COSMIC||AL;HPO|10243|Apnea, Aspiration, Autosomal dominant inheritance, Autosomal recessive inheritance, Exaggerated startle response, Feeding difficulties, Frequent falls, Generalized tonic-clonic seizures, Hip dislocation, Hyperreflexia, Hypertonia, Hypokinesia, Infantile onset, Inguinal hernia, Molybdenum cofactor deficiency, Muscular hypotonia of the trunk, Myoclonus, Polymicrogyria, Poor eye contact, Poor head control, Seizures, Spontaneous abortion, Umbilical hernia
Glyc	AMZ2	0.50413056	0.000625115	Metallo protease	BrainSpLMD|51321	OMIM|615169
Glyc	UBE4A	0.333216581	0.000631088	Ubiquitin proteasome system protein	BrainSpLMD|9354;Eurexp|euxassay_003317|basal plate, cervical, cervico-thoracic, dorsal root ganglion, epidermal component, facial VII, floor plate, glossopharyngeal IX, mantle layer, thoracic, thymus primordium, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa	OMIM|603753
Glyc	CABIN1	0.330782087	0.000633579	Transcription regulatory protein	BrainSpLMD|23523	OMIM|604251
Glyc	NOP58	0.388729379	0.000641897	RNA binding protein	BrainSpLMD|51602	OMIM|616742
Glyc	ASAH1	0.300438423	0.000655453	Enzyme: Hydrolase	BrainSpLMD|427;Eurexp|euxassay_004481|lung	OMIM|613468;HPO|427|Areflexia, Arthralgia, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Cherry red spot of the macula, Decreased muscle mass, Degeneration of anterior horn cells, Dementia, Difficulty walking, EEG abnormality, EMG abnormality, Facial palsy, Failure to thrive, Frequent falls, Gait disturbance, Generalized myoclonic seizures, Gowers sign, Hepatomegaly, Hoarse cry, Intellectual disability, Irritability, Joint stiffness, Joint swelling, Juvenile onset, Kyphosis, Laryngomalacia, Lipogranulomatosis, Motor delay, Myoclonus, Neurological speech impairment, Nystagmus, Oral-pharyngeal dysphagia, Osteoporosis, Periarticular subcutaneous nodules, Progressive, Progressive distal muscular atrophy, Recurrent respiratory infections, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scoliosis, Short stature, Spinal muscular atrophy, Splenomegaly, Tongue fasciculations, Tremor, Variable expressivity
Glyc	DRAP1	0.575481326	0.000660881	Transcription regulatory protein	BrainSpLMD|10589;BrainSpMouseDev|42399	OMIM|602289
Glyc	ANKRA2	0.79061739	0.000662863	Unclassified	BrainSpLMD|57763	OMIM|605787
Glyc	RARS	0.62511526	0.000663891	Enzyme: Ligase	BrainSpLMD|5917	OMIM|107820;HPO|5917|Abnormality of extrapyramidal motor function, Autosomal recessive inheritance, Dysarthria, Dysmetria, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Intellectual disability, Intention tremor, Leukodystrophy, Microcephaly, Nystagmus, Variable expressivity
Glyc	EIF3FP3	0.820293199	0.000664609			
Glyc	DOPEY1	0.639011051	0.000666116	Unclassified	BrainSpLMD|23033	OMIM|616823
Glyc	RP11.83A24.2	1.061779752	0.000683534			
Glyc	CCNB1IP1	0.490895143	0.000692533	Cell cycle control protein	BrainSpLMD|57820	OMIM|608249;COSMIC||leiomyoma
Glyc	CDC42	0.289920445	0.000706823	GTPase	BrainSpLMD|998;BrainSpMouseDev|12325	OMIM|116952
Glyc	FUBP3	1.569999998	0.000712727	Transcription factor	BrainSpLMD|8939;Eurexp|euxassay_019536|dorsal root ganglion, incisor, lung, metanephros, molar, submandibular gland primordium, ventral grey horn, vibrissa	OMIM|603536
Glyc	SUCLA2	0.778910346	0.000717896	Enzyme: Synthase	BrainSpLMD|8803;Eurexp|euxassay_018605|dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, right lung, trigeminal V, vagus X	OMIM|603921;HPO|8803|Abnormal electroretinogram, Abnormality of the basal ganglia, Abnormality of visual evoked potentials, Aminoaciduria, Ataxia, Athetosis, Autosomal recessive inheritance, Behavioral abnormality, Cachexia, Cerebral atrophy, Cerebral calcification, Decreased activity of mitochondrial respiratory chain, Decreased nerve conduction velocity, Delayed gross motor development, Dystonia, Elevated serum creatine phosphokinase, Facial diplegia, Failure to thrive, Feeding difficulties in infancy, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hyporeflexia, Infantile onset, Intellectual disability, progressive, Irritability, Lactic acidosis, Loss of ability to walk in early childhood, Methylmalonic acidemia, Methylmalonic aciduria, Microcephaly, Ophthalmoplegia, Peripheral neuropathy, Progressive encephalopathy, Ptosis, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment, Short stature, Skeletal muscle atrophy, Spasticity, Strabismus, Ventriculomegaly, Visual impairment
Glyc	SUB1P3	0.442024008	0.000734799			
Glyc	LATS1	0.317509653	0.00073766	Serine/threonine kinase	BrainSpLMD|9113	OMIM|603473
Glyc	TOP3A	0.622992563	0.000749299	Enzyme: Topoisomerase	BrainSpLMD|7156	OMIM|601243
Glyc	RABGGTB	0.428206115	0.000750316	Enzyme: Prenyltransferase	BrainSpLMD|5876	OMIM|179080
Glyc	GAP43	0.580714817	0.000751681	Growth factor	BrainSpLMD|2596;Eurexp|euxassay_002973|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, midgut, nasal capsule, olfactory, rectum, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|14208	SFARI||Autism, 5 - Hypothesized but untested;OMIM|162060
Glyc	RPS27L	0.484380934	0.000751795	Unclassified	BrainSpLMD|51065;Eurexp|euxassay_013950|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, pancreas, primitive seminiferous tubules, rest of mesenchyme, right lung, skeletal muscle, submandibular gland primordium, thymus primordium, tongue, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|612055
Glyc	CCT6P3	0.667464123	0.000772014			
Glyc	SLC35E1	0.694960482	0.000775323	Membrane transport protein	BrainSpLMD|79939;Eurexp|euxassay_015962|clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, inner ear, mandible, mantle layer, maxilla, orbito-sphenoid, otic capsule, rib, sternum, submandibular gland primordium, trigeminal V, turbinate, vagus X, vault of skull, ventral grey horn, vibrissa	
Glyc	ADAT1	1.64181559	0.000775397	Enzyme: Deaminase	BrainSpLMD|23536	OMIM|604230
Glyc	SEC23A	0.58718695	0.000776077	Transport/cargo protein	BrainSpLMD|10484;Eurexp|euxassay_010377|clavicle, mandible, maxilla, orbito-sphenoid, rib, turbinate bones	OMIM|610511;HPO|10484|Anteverted nares, Autosomal recessive inheritance, Brittle hair, Capillary hemangiomas, Carious teeth, Coarse hair, Cryptorchidism, Decreased skull ossification, Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Forehead hyperpigmentation, Frontal bossing, High iliac wings, Hyperpigmentation of the skin, Hypertelorism, Hypoplasia of teeth, Hypoplasia of the maxilla, Joint laxity, Large fontanelles, Long philtrum, Macrocephaly, Malar flattening, Microdontia, Midface retrusion, Narrow chest, Narrow iliac wings, Pes planus, Posterior Y-sutural cataract, Posterior wedging of vertebral bodies, Premature loss of teeth, Prominent nasal bridge, Prominent supraorbital ridges, Punctate cataract, Scoliosis, Short stature, Skeletal dysplasia, Smooth philtrum, Sparse hair, Sutural cataract, Thin upper lip vermilion, Thin vermilion border, Wide anterior fontanel, Wide mouth, Wide nasal bridge, Wide nose
Glyc	INA	0.520991117	0.000779273	Cytoskeletal protein	BrainSpLMD|9118;Eurexp|euxassay_012424|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|605338
Glyc	SRRD	0.596326239	0.000795412	Unclassified	BrainSpLMD|402055	OMIM|602254
Glyc	DDX21	0.678159824	0.000796199	ATPase	BrainSpLMD|9188;Eurexp|euxassay_005701|embryo	OMIM|606357
Glyc	ZADH2	0.607420274	0.000802874	Enzyme: Dehydrogenase	BrainSpLMD|284273	
Glyc	C19orf10	0.363205879	0.000807856			
Glyc	TUBG2	0.285053998	0.000808346	Cytoskeletal associated protein	BrainSpLMD|27175;Eurexp|euxassay_003153|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, marginal layer, molar, olfactory, submandibular gland primordium, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|605785
Glyc	DNAJC2	0.733555756	0.000813876	Chaperone	BrainSpLMD|27000	OMIM|605502
Glyc	C12orf10	0.723607241	0.000819327	Unclassified	BrainSpLMD|60314	OMIM|611366
Glyc	STAG3	0.451651995	0.000843219	Unclassified	BrainSpLMD|10734	OMIM|608489;HPO|10734|Autosomal recessive inheritance, Increased circulating gonadotropin level, Premature ovarian insufficiency, Primary amenorrhea
Glyc	C4orf29	1.053978647	0.000846249			
Glyc	LPPR2	1.221990348	0.000865277			
Glyc	TP53BP1	0.485316726	0.000877595	Transcription regulatory protein	BrainSpLMD|7158;Eurexp|euxassay_012562|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|605230
Glyc	PSMC1P1	0.524817524	0.000882505			
Glyc	PSMD8	0.829603683	0.000889153	Ubiquitin proteasome system protein	BrainSpLMD|5714;Eurexp|euxassay_006093|epidermis, naris, nose, urethra, vibrissa	
Glyc	NHP2	0.606493533	0.00088985	Ribonucleoprotein	Eurexp|euxassay_002168|axial muscle, orbito-sphenoid	OMIM|606470;HPO|55651|Abnormal blistering of the skin, Abnormality of coagulation, Abnormality of female internal genitalia, Abnormality of neutrophils, Abnormality of the fingernails, Abnormality of the pharynx, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic anemia, Aplastic/hypoplastic toenail, Autosomal recessive inheritance, Bone marrow hypocellularity, Carious teeth, Cellular immunodeficiency, Cirrhosis, Esophageal stenosis, Esophageal stricture, Global developmental delay, Growth delay, Hepatic fibrosis, Hyperhidrosis, Hypermelanotic macule, Hyperpigmentation of the skin, Hypodontia, Hypopigmented skin patches, Increased lacrimation, Intellectual disability, Intrauterine growth retardation, Malabsorption, Microcephaly, Microdontia, Nail dysplasia, Nail dystrophy, Nasolacrimal duct obstruction, Oral leukoplakia, Osteoporosis, Pancytopenia, Periodontitis, Phenotypic variability, Pterygium of nails, Pulmonary fibrosis, Recurrent fractures, Recurrent respiratory infections, Reticulated skin pigmentation, Rough bone trabeculation, Short stature, Skin ulcer, Small nail, Sparse eyelashes, Sparse hair, Sparse scalp hair, Taurodontia, Telangiectasia of the skin, Testicular atrophy, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis
Glyc	RAD17	0.70192012	0.000890087	Cell cycle control protein	BrainSpLMD|5884	OMIM|603139
Glyc	MORN4	0.724945646	0.000890817	Unclassified	BrainSpLMD|118812;Eurexp|euxassay_007046|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|617736
Glyc	BOD1L1	0.666547457	0.000892292	Unclassified	BrainSpLMD|259282	OMIM|616746
Glyc	ATG4B	0.622352852	0.000898348	Cysteine protease		OMIM|611338
Glyc	DDX24	0.393736611	0.000899931	Transport/cargo protein	BrainSpLMD|57062	OMIM|606181
Glyc	SLC25A46	0.871146233	0.000904919	Transport/cargo protein	BrainSpLMD|91137;Eurexp|euxassay_000535|Meckel's cartilage, basisphenoid bone, central nervous system, dorsal root ganglion, ear, facial VII, facial bones primordia, glossopharyngeal IX, labyrinth, mandible, molar, nervous system, orbito-sphenoid, otic capsule, premaxilla, spinal cord, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII	OMIM|610826;HPO|91137|Anteverted nares, Autosomal recessive inheritance, Bulbous nose, Distal sensory impairment, Flexion contracture, Generalized hypotonia, Global developmental delay, Hyporeflexia, Inverted nipples, Muscular hypotonia, Narrow forehead, Narrow palate, Optic atrophy, Pes cavus, Progressive visual loss, Steppage gait, Tapered finger, Tented upper lip vermilion, Variable expressivity
Glyc	GLG1	0.408783581	0.000905844	Integral membrane protein	BrainSpLMD|2734	OMIM|600753
Glyc	WDR74	0.417467505	0.000907314	Unclassified	BrainSpLMD|54663	
Glyc	ABR	0.295681259	0.000914482	GTPase activating protein	BrainSpLMD|29;Eurexp|euxassay_008421|brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, mesenchyme, mesothelium, midgut, naso-lacrimal duct, olfactory, peritoneal cavity, rib, right lung, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|600365
Glyc	AKAP8L	0.553383684	0.000927428	DNA binding protein	BrainSpLMD|26993	OMIM|609475
Glyc	FKBP11	0.542035962	0.000934725	Enzyme: Isomerase	BrainSpLMD|51303;Eurexp|euxassay_008734|basioccipital bone, clavicle, exoccipital bone, incisor, left, mandible, maxilla, orbito-sphenoid, otic capsule, petrous part, rib, right, temporal bone, temporo-mandibular joint primordium, turbinate	OMIM|610571
Glyc	MTPAP	0.551279393	0.000947462	RNA polymerase	BrainSpLMD|55149;Eurexp|euxassay_002898|lobe	OMIM|613669;HPO|55149|Autosomal recessive inheritance, Babinski sign, Delayed speech and language development, Dysarthria, Hyporeflexia, Nystagmus, Optic atrophy, Slow progression, Spastic ataxia, Spastic paraparesis
Glyc	ZBTB21	0.651798134	0.000957298	Transcription regulatory protein	BrainSpLMD|49854	OMIM|616485
Glyc	RTCB	0.352320138	0.000961127	Unclassified	BrainSpLMD|51493	OMIM|613901
Glyc	PGM2L1	0.424791137	0.000967064	Enzyme: Mutase	BrainSpLMD|283209;Eurexp|euxassay_012530|brain, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611610
Glyc	CCDC174	0.301792402	0.000986067	Unclassified	BrainSpLMD|51244	OMIM|616735;HPO|51244|Autosomal recessive inheritance, Cryptorchidism, Decreased fetal movement, Delayed speech and language development, Dilation of lateral ventricles, Global developmental delay, Hypoplasia of the corpus callosum, Long face, Myopathic facies, Myopathy, Neonatal hypotonia, Open mouth, Respiratory insufficiency due to muscle weakness, Severe muscular hypotonia, Strabismus, Ventricular septal defect
Glyc	SEPT7P9	1.136323566	0.000986272			
Glyc	ZNF589	0.724164597	0.001002945	DNA binding protein	BrainSpLMD|51385	OMIM|616702
Glyc	LIPA	0.476720479	0.001025609	Enzyme: Lipase	BrainSpLMD|3988	OMIM|613497;HPO|3988|Abdominal distention, Adrenal calcification, Anemia, Arteriosclerosis, Ascites, Autosomal recessive inheritance, Bone-marrow foam cells, Cachexia, Cirrhosis, Death in infancy, Diarrhea, Esophageal varix, Failure to thrive, Global developmental delay, Growth delay, Hepatic failure, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Malnutrition, Nausea and vomiting, Protuberant abdomen, Pulmonary arterial hypertension, Splenomegaly, Steatorrhea, Vacuolated lymphocytes, Vomiting
Glyc	TMEM128	0.833344486	0.001042434	Integral membrane protein	BrainSpLMD|85013	
Glyc	DHCR7	2.094120998	0.001046478	Enzyme: Reductase	BrainSpLMD|1717;Eurexp|euxassay_015508|adrenal gland, neural retina, stroma	SFARI||Autism, No category;OMIM|602858;HPO|1717|2-3 toe syndactyly, Abnormal dermatoglyphics, Abnormal lung lobation, Abnormality of dental morphology, Abnormality of the larynx, Abnormality of the metacarpal bones, Aganglionic megacolon, Aggressive behavior, Ambiguous genitalia, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Atrial septal defect, Atrioventricular canal defect, Attention deficit hyperactivity disorder, Autism, Autosomal recessive inheritance, Bicornuate uterus, Bifid scrotum, Biparietal narrowing, Breech presentation, Broad alveolar ridges, Cataract, Cholestatic liver disease, Cleft palate, Clitoral hypertrophy, Coarctation of aorta, Constipation, Cryptorchidism, Cutaneous photosensitivity, Cutis marmorata, Dandy-Walker malformation, Decreased fetal movement, Dental crowding, Depressed nasal bridge, Eczema, Elevated 7-dehydrocholesterol, Epicanthus, Epiphyseal stippling, Excessive daytime somnolence, Facial capillary hemangioma, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Gastrointestinal dysmotility, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hammertoe, Hearing impairment, Hip dislocation, Hip subluxation, Holoprosencephaly, Hydrocephalus, Hydronephrosis, Hyperactivity, Hypertelorism, Hypertonia, Hypocholesterolemia, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Hypospadias, Increased nuchal translucency, Intellectual disability, Intestinal malrotation, Intrauterine growth retardation, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Metatarsus adductus, Microcephaly, Microglossia, Micrognathia, Micromelia, Micropenis, Muscular hypotonia, Narrow forehead, Nystagmus, Overlapping toe, Patent ductus arteriosus, Periventricular gray matter heterotopia, Polyhydramnios, Poor suck, Postaxial foot polydactyly, Postaxial hand polydactyly, Posteriorly rotated ears, Precocious puberty, Premature birth, Proximal placement of thumb, Ptosis, Pulmonary hypoplasia, Pyloric stenosis, Recurrent infections, Recurrent otitis media, Renal agenesis, Renal cyst, Renal hypoplasia, Scrotal hypoplasia, Seizures, Self-injurious behavior, Self-mutilation, Septate vagina, Severe photosensitivity, Short neck, Short stature, Short thumb, Short toe, Sleep-wake cycle disturbance, Strabismus, Talipes calcaneovalgus, Tracheal stenosis, Ureteropelvic junction obstruction, Ventricular septal defect, Ventriculomegaly, Vomiting, Wide intermamillary distance, Wide mouth, Wide nasal bridge
Glyc	VDAC1P1	0.555223688	0.001062001			
Glyc	FAM200B	0.423183025	0.001062819	-		
Glyc	PDHX	0.716232558	0.001070051	Enzyme: Dehydrogenase	BrainSpLMD|8050	OMIM|608769;HPO|8050|Abnormality of eye movement, Ataxia, Autosomal recessive inheritance, Congenital onset, Decreased activity of the pyruvate dehydrogenase complex, Dystonia, Epicanthus, Global developmental delay, High palate, Hyperalaninemia, Hypertelorism, Increased serum pyruvate, Intellectual disability, Lactic acidosis, Metabolic acidosis, Microcephaly, Neonatal hypotonia, Optic atrophy, Partial agenesis of the corpus callosum, Pectus excavatum, Poor fine motor coordination, Poor gross motor coordination, Seizures, Spastic paraplegia, Spastic tetraplegia, Subependymal cysts, Trigonocephaly, Unsteady gait, Variable expressivity
Glyc	ITCH	0.479694639	0.001076145	Ubiquitin proteasome system protein	BrainSpLMD|83737;Eurexp|euxassay_009772|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|606409;HPO|83737|Abnormal facial shape, Autoimmunity, Autosomal recessive inheritance, Camptodactyly, Clinodactyly, Dolichocephaly, Frontal bossing, Global developmental delay, Hepatomegaly, Low-set ears, Posteriorly rotated ears, Prominent occiput, Proptosis, Relative macrocephaly, Short chin, Splenomegaly
Glyc	SCML1	0.445806195	0.001099281	Transcription regulatory protein	BrainSpLMD|6322	OMIM|300227
Glyc	PAFAH1B1	0.626234571	0.001099716	Enzyme: Hydrolase	Eurexp|euxassay_017952|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, skeleton, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|18238	SFARI||Autism, 5 - Hypothesized but untested;OMIM|601545;HPO|5048|Abnormality of the cardiovascular system, Abnormality of the cerebral white matter, Abnormality of upper lip, Anteverted nares, Cerebellar hypoplasia, Cerebral cortical atrophy, Downslanted palpebral fissures, EEG abnormality, Epicanthus, Frontal bossing, Global developmental delay, Growth delay, Heterotopia, High forehead, Hypertelorism, Hypoplasia of the brainstem, Intellectual disability, Lissencephaly, Low-set ears, Muscular hypotonia, Muscular hypotonia of the trunk, Narrow mouth, Pachygyria, Polyhydramnios, Postnatal microcephaly, Seizures, Short neck, Short nose, Spastic tetraparesis, Sporadic, Variable expressivity, Ventriculomegaly, Wide nose
Glyc	KATNAL1	0.53187406	0.00111469	ATPase	BrainSpLMD|84056	SFARI||Autism, 4 - Minimal evidence;OMIM|614764
Glyc	KIAA1715	0.557125324	0.001117953			
Glyc	NR2C1	0.677809691	0.001125313	Nuclear receptor	BrainSpLMD|7181;BrainSpMouseDev|21782	OMIM|601529
Glyc	ARFGAP3	0.740936648	0.001126923	GTPase activating protein	BrainSpLMD|26286	OMIM|612439
Glyc	HSF2	0.497673768	0.001133773	Heat shock protein	BrainSpLMD|3298	OMIM|140581
Glyc	MRPL10	1.001167566	0.001138317	RNA binding protein	BrainSpLMD|124995	OMIM|611825
Glyc	GNL3	0.451632272	0.001140786	Cell cycle control protein	BrainSpLMD|26354;Eurexp|euxassay_006219|cortex, incisor, left, left lung, mandible, marginal layer, maxilla, midgut, molar, neural retina, orbito-sphenoid, palatal shelf, right, right lung, submandibular gland primordium, testis, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|608011
Glyc	FGF13	0.851614133	0.001151403	Growth factor	BrainSpLMD|2258	OMIM|300070
Glyc	IGFBP2	0.589189253	0.001160526	Secreted polypeptide	BrainSpLMD|3485;BrainSpMouseDev|15781	OMIM|146731
Glyc	TIMM23B	0.318320762	0.001163937		Eurexp|euxassay_002670|basal plate, incisor, molar, orbito-sphenoid, submandibular gland primordium, ventral grey horn, ventricular layer	
Glyc	CSNK2A3	0.409762805	0.001167912			
Glyc	EIF4A3	0.462953949	0.001170503	Unclassified	BrainSpLMD|9775;Eurexp|euxassay_003305|submandibular gland primordium, testis, vibrissa	OMIM|608546;HPO|9775|Abnormality of the aryepiglottic fold, Abnormality of the voice, Agenesis of mandibular central incisor, Aplasia of the epiglottis, Autosomal recessive inheritance, Bifid uvula, Cleft lower alveolar ridge, Cleft mandible, Clinodactyly of the 5th finger, Feeding difficulties, Global developmental delay, High palate, Hypoplasia of the radius, Low-set ears, Microretrognathia, Narrow mouth, Pierre-Robin sequence, Prominent nose, Protruding ear, Proximal placement of thumb, Radial deviation of the hand, Short metacarpal, Short phalanx of finger, Short stature, Short thumb, Talipes equinovarus, Tibial deviation of toes
Glyc	TMEM39A	1.15507465	0.001174882	Unclassified	BrainSpLMD|55254;Eurexp|euxassay_005679|embryo	
Glyc	EXOC1	0.254309232	0.001181072	Transport/cargo protein	BrainSpLMD|55763	OMIM|607879
Glyc	AFF1	0.301026394	0.001201645	Transcription factor	BrainSpLMD|4299	OMIM|159557;COSMIC||AL
Glyc	GPR89B	0.874394472	0.001207982	G protein coupled receptor		OMIM|612806
Glyc	PSMD1	0.523806387	0.001215123	Ubiquitin proteasome system protein	BrainSpLMD|5707;Eurexp|euxassay_016545|dorsal root ganglion, lung, mantle layer, olfactory, thymus primordium, ventral grey horn	
Glyc	NDUFA4	0.373381051	0.001217051	Enzyme: Oxidoreductase	BrainSpLMD|4697;Eurexp|euxassay_003412|adenohypophysis, adrenal gland, bladder, brain, dorsal root ganglion, facial VII, glossopharyngeal IX, heart, incisor, liver, lung, metanephros, midgut, molar, neural retina, olfactory, orbito-sphenoid, pancreas, respiratory, segmental spinal nerve, spinal cord, stomach, stroma, submandibular gland primordium, thymus primordium, tongue, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|603833
Glyc	HK1	1.549822634	0.001221566	Enzyme: Sugar phosphotransferase	BrainSpLMD|3098	OMIM|142600;HPO|3098|Abnormality of the foot, Abnormality of the hand, Autosomal dominant inheritance, Autosomal recessive inheritance, Axonal regeneration, Cholecystitis, Cholelithiasis, Congenital onset, Constriction of peripheral visual field, Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers, Difficulty walking, Distal muscle weakness, Hyperbilirubinemia, Hyporeflexia, Jaundice, Macular atrophy, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Nyctalopia, Optic disc pallor, Peripheral hypomyelination, Peripheral neuropathy, Photophobia, Progressive, Reduced visual acuity, Reticulocytosis, Splenomegaly
Glyc	DIS3	0.750817459	0.001222824	RNA binding protein	BrainSpLMD|22894;Eurexp|euxassay_001502|cortex, thymus primordium, ventricular layer	OMIM|607533
Glyc	KIAA1429	1.053362902	0.001235246			
Glyc	SLC25A37	0.659797565	0.001254994	Transport/cargo protein	BrainSpLMD|51312;Eurexp|euxassay_007768|liver, mesenchyme	OMIM|610387
Glyc	NCBP1	0.521487508	0.001266223	RNA binding protein	BrainSpLMD|4686	OMIM|600469
Glyc	POLR2C	0.747501367	0.001276928	Transcription regulatory protein	BrainSpLMD|5432	OMIM|180663
Glyc	PIK3C2A	0.254953377	0.001277244	Lipid Kinase	BrainSpLMD|5286	OMIM|603601
Glyc	ZFHX4	0.317026351	0.001281196	Transcription factor	BrainSpLMD|79776;Eurexp|euxassay_005820|epidermis, mantle layer, nasal septum, urethra;BrainSpMouseDev|56662	OMIM|606940;HPO|79776|Autosomal dominant inheritance, Congenital ptosis
Glyc	NOL8	0.326327532	0.001281404	RNA binding protein	BrainSpLMD|55035	OMIM|611534
Glyc	ZDHHC9	0.403033234	0.001286368	Integral membrane protein	BrainSpLMD|51114	OMIM|300646;HPO|51114|Aplasia/Hypoplasia of the corpus callosum, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Disproportionate tall stature, High forehead, High palate, Hypoplasia of the maxilla, Intellectual disability, Joint contracture of the 5th finger, Joint hyperflexibility, Macrocephaly, Macroorchidism, Micrognathia, Muscular hypotonia, Narrow face, Nasal speech, Neurological speech impairment, Pectus carinatum, Pectus excavatum, Pes planus, Prominent nasal bridge, Protruding ear, Scoliosis, Short philtrum, Strabismus, X-linked inheritance
Glyc	SNRPB2	0.481613265	0.001298788	Ribonucleoprotein	BrainSpLMD|6629;Eurexp|euxassay_003430|submandibular gland primordium, vibrissa	OMIM|603520
Glyc	NUCB2	0.76833121	0.001300738	Calcium binding protein	BrainSpLMD|4925;BrainSpMouseDev|32802	OMIM|608020
Glyc	KLHL28	0.298504854	0.001302816	Unclassified	BrainSpLMD|54813;Eurexp|euxassay_002559|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, stroma, trigeminal V, vestibulocochlear VIII	
Glyc	ZNF550	0.791207181	0.001311488	DNA binding protein	BrainSpLMD|162972	
Glyc	HSPA4L	1.242952355	0.001320072	Heat shock protein	BrainSpLMD|22824;Eurexp|euxassay_006441|cervico-thoracic, diencephalon, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, hindbrain, left, mantle layer, mesenchyme, midbrain, midgut, neural retina, olfactory, pituitary, posterior, right, skeletal muscle, spinal cord, thoracic, thymus primordium, trachea, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	
Glyc	CLOCK	0.399684412	0.001321154	Transcription factor	BrainSpLMD|9575;BrainSpMouseDev|12537	OMIM|601851
Glyc	HNRNPC	0.253817974	0.001344413	RNA binding protein		OMIM|164020
Glyc	MRPS33	1.132387063	0.001344576	Ribosomal subunit	BrainSpLMD|51650	OMIM|611993
Glyc	GNG3	0.703959498	0.001354637	G protein	BrainSpLMD|2785;Eurexp|euxassay_010359|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608941
Glyc	FLVCR1	0.69706567	0.001398694	Transport/cargo protein	BrainSpLMD|28982	OMIM|609144;HPO|28982|Achalasia, Areflexia, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Broad-based gait, Camptodactyly, Childhood onset, Decreased sensory nerve conduction velocity, Distal muscle weakness, Impaired vibration sensation in the lower limbs, Joint contracture of the hand, Nyctalopia, Optic atrophy, Positive Romberg sign, Recurrent urinary tract infections, Ring scotoma, Rod-cone dystrophy, Scoliosis, Scotoma, Sensory ataxia, Skeletal muscle atrophy, Slow progression, Undetectable electroretinogram, Urinary incontinence
Glyc	GGA2	0.976476588	0.001403537	Transport/cargo protein	BrainSpLMD|23062	OMIM|606005
Glyc	LRPAP1	0.934707022	0.00144446	Chaperone	BrainSpLMD|4043;Eurexp|euxassay_013971|calyces, choroid invagination, choroid plexus, floor plate, floorplate, mantle layer, marginal layer, olfactory, roof plate, stomach	OMIM|104225;HPO|4043|Autosomal recessive inheritance, Increased axial globe length, Reduced visual acuity, Severe Myopia, Visual impairment
Glyc	ZNF234	0.841702397	0.001445594	Transcription factor	BrainSpLMD|10780	OMIM|604750
Glyc	CBY1	1.09943104	0.001452655	Unclassified	BrainSpLMD|25776;Eurexp|euxassay_010516|olfactory	OMIM|607757
Glyc	HINFP	0.341858503	0.001456067	Transcription regulatory protein	BrainSpLMD|25988	OMIM|607099
Glyc	SARS	0.348926229	0.001484405	Enzyme: Ligase	BrainSpLMD|6301;Eurexp|euxassay_012234|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, orbito-sphenoid, submandibular gland primordium, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|607529
Glyc	ABCF1	0.253907235	0.001491044	Translation regulatory protein	BrainSpLMD|23;Eurexp|euxassay_007589|embryo	OMIM|603429
Glyc	AC007318.5	0.643706254	0.001500763			
Glyc	ERP44	0.321470397	0.001503452	Unclassified	BrainSpLMD|23071;Eurexp|euxassay_001975|Meckel's cartilage, incisor, molar, orbito-sphenoid	OMIM|609170
Glyc	CENPT	0.804204938	0.001508797	Unclassified	BrainSpLMD|80152	OMIM|611510
Glyc	BNIP2	0.567366598	0.00151596	GTPase activating protein	BrainSpLMD|663	OMIM|603292
Glyc	GFPT1	0.674335667	0.001538094	Enzyme: Aminotransferase	BrainSpLMD|2673	OMIM|138292;HPO|2673|Abnormality of the immune system, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Decreased fetal movement, Decreased muscle mass, Decreased size of nerve terminals, Dental malocclusion, Dysarthria, Dysphagia, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, Easy fatigability, Facial palsy, Fatigable weakness, Feeding difficulties, Generalized hypotonia, Gowers sign, High palate, Infantile onset, Juvenile onset, Long face, Mandibular prognathia, Mildly elevated creatine phosphokinase, Motor delay, Muscle cramps, Muscular hypotonia, Neck muscle weakness, Nonprogressive, Ophthalmoparesis, Proximal amyotrophy, Ptosis, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Strabismus, Type 2 muscle fiber atrophy, Variable expressivity, Waddling gait, Weak cry
Glyc	LIN7C	0.263682973	0.001542276	Unclassified	BrainSpLMD|55327	OMIM|612332
Glyc	NCOA7	0.561773024	0.00155005	Transcription regulatory protein	BrainSpLMD|135112	OMIM|609752
Glyc	PMM1	0.692085722	0.001555483	Enzyme: Mutase	BrainSpLMD|5372;Eurexp|euxassay_011907|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X	OMIM|601786
Glyc	AC005154.6	0.711104106	0.001560198			
Glyc	CCNL2	0.368224838	0.00156821	Cell cycle control protein	BrainSpLMD|81669	OMIM|613482
Glyc	UBR3	0.258461352	0.001578219	Unclassified	BrainSpLMD|130507;Eurexp|euxassay_007551|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613831
Glyc	PLCXD1	1.399195097	0.00158704	Enzyme: Phospholipase		OMIM|300974
Glyc	SECISBP2L	0.324654893	0.001590218	Unclassified	BrainSpLMD|9728	OMIM|615756
Glyc	XKR4	0.791803287	0.001591324	Integral membrane protein		
Glyc	GPR85	0.500794724	0.001594007	G protein coupled receptor	BrainSpLMD|54329;Eurexp|euxassay_005306|axial skeleton, brain, glossopharyngeal IX, neural retina, skeletal muscle, spinal cord, stroma, trachea, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|605188
Glyc	KDM5B	0.262868469	0.001596274	Transcription regulatory protein	BrainSpLMD|10765;BrainSpMouseDev|51446	SFARI||Autism, 2 - Strong candidate;OMIM|605393
Glyc	SDF2	0.35377442	0.001604133	Secreted polypeptide	BrainSpLMD|6388	OMIM|602934
Glyc	NACA	0.255917246	0.001609508	Chaperone	BrainSpLMD|4666	OMIM|601234;COSMIC||NHL
Glyc	MIA3	0.589908033	0.001611811	Unclassified	Eurexp|euxassay_011320|olfactory, vomeronasal organ	OMIM|613455
Glyc	ZNF280B	0.936897745	0.001628493	Transcription regulatory protein	BrainSpLMD|140883	
Glyc	AGGF1	1.028015232	0.001644373	Growth factor	BrainSpLMD|55109;Eurexp|euxassay_005113|embryo	OMIM|608464;HPO|55109|Cellulitis, Gastrointestinal hemorrhage, Hemangioma, Lower limb asymmetry, Pulmonary embolism, Tall stature, Upper limb asymmetry, Venous insufficiency, Venous thrombosis
Glyc	CA5B	0.268271513	0.001650899	Enzyme: Carbonic anhydrase	BrainSpLMD|11238;Eurexp|euxassay_018506|floor plate	OMIM|300230
Glyc	SAR1A	0.27171152	0.001654693	GTPase	BrainSpLMD|56681;Eurexp|euxassay_004471|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|607691
Glyc	NUDT9	0.890485792	0.001690619	Enzyme: Phosphatase	BrainSpLMD|53343	OMIM|606022
Glyc	LSM7	0.561441298	0.001706621	RNA binding protein	BrainSpLMD|51690	OMIM|607287
Glyc	MLF2	0.641982119	0.001718941	Unclassified	BrainSpLMD|8079	OMIM|601401
Glyc	MAPKAPK5	0.977407361	0.001742322	Serine/threonine kinase	BrainSpLMD|8550	OMIM|606723
Glyc	ZFC3H1	0.946422325	0.001763131	Unclassified	BrainSpLMD|196441	
Glyc	SLC11A2	0.305425261	0.001796163	Transport/cargo protein	BrainSpLMD|4891	OMIM|600523;HPO|4891|Abnormality of metabolism/homeostasis, Abnormality of the liver, Anemia, Autosomal recessive inheritance, Decreased mean corpuscular volume
Glyc	CCDC66	0.253986364	0.001824449	Unclassified	Eurexp|euxassay_000144|dorsal root ganglion, lung, metanephros, nucleus pulposus, spinal cord, trigeminal V, vagus X, ventricular layer, vibrissa	
Glyc	MGEA5	0.428365396	0.0018256	Enzyme: Hydrolase	BrainSpLMD|10724	OMIM|604039
Glyc	UBC	0.548949674	0.001826033	Ubiquitin proteasome system protein	BrainSpLMD|7316	OMIM|191340
Glyc	ADIPOR1	0.397090759	0.001841278	Integral membrane protein	BrainSpLMD|51094	OMIM|607945
Glyc	AKIRIN1	0.483475322	0.001861373	Unclassified	BrainSpLMD|79647;Eurexp|euxassay_003462|Meckel's cartilage, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, left lung, mantle layer, molar, oesophagus, olfactory, orbito-sphenoid, right lung, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|615164
Glyc	NTRK2	1.363380107	0.001862938	Receptor tyrosine kinase	BrainSpLMD|4915;BrainSpMouseDev|17979	OMIM|600456;HPO|4915|Autosomal dominant inheritance, Facial asymmetry, Obesity, Polyphagia, Severe global developmental delay, Stereotypy
Glyc	PHF6	0.344228061	0.001871656	Transcription regulatory protein	BrainSpLMD|84295;Eurexp|euxassay_005159|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, eyelid, glossopharyngeal IX, limb, liver, lung, metanephros, naris, olfactory, penis, respiratory, retina, spinal cord, submandibular gland primordium, tail, thoracic, thymus primordium, trachea, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|300414;COSMIC||ETP ALL, Boerjeson-Forssman-Lehmann syndrome;HPO|84295|Blepharophimosis, Broad foot, Camptodactyly of toe, Cervical spinal canal stenosis, Coarse facial features, Cryptorchidism, Decreased testicular size, Deeply set eye, Delayed puberty, EEG abnormality, Feeding difficulties in infancy, Generalized hypotonia, Gynecomastia, Hypogonadism, Hypoplasia of penis, Hypoplasia of the prostate, Intellectual disability, Intellectual disability, severe, Kyphosis, Large earlobe, Macrotia, Microcephaly, Micropenis, Muscular hypotonia, Nystagmus, Obesity, Prominent supraorbital ridges, Ptosis, Scheuermann-like vertebral changes, Scoliosis, Scrotal hypoplasia, Seizures, Short stature, Short toe, Shortening of all distal phalanges of the fingers, Shortening of all middle phalanges of the fingers, Sparse hair, Tapered finger, Thick eyebrow, Thickened calvaria, Truncal obesity, Visual impairment, Widely spaced toes, X-linked recessive inheritance
Glyc	TNRC6C	0.449691619	0.001872875	RNA binding protein	BrainSpLMD|57690	OMIM|610741
Glyc	DTNA	0.279448201	0.001899809	Unclassified	BrainSpLMD|1837;Eurexp|euxassay_010455|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|601239;HPO|1837|Atrial fibrillation, Autosomal dominant inheritance, Congestive heart failure, Hypoplastic left heart, Left ventricular hypertrophy, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Patent ductus arteriosus, Sudden cardiac death, Ventricular arrhythmia, Ventricular septal defect
Glyc	FAM13C	0.844843192	0.001910314	Unclassified	BrainSpLMD|220965;Eurexp|euxassay_002764|epithelium, marginal layer, olfactory, ventricular layer	
Glyc	PSMC2	0.606862718	0.001928721	Ubiquitin proteasome system protein	BrainSpLMD|5701	OMIM|154365
Glyc	GNAZ	0.27536593	0.001956603	G protein	BrainSpLMD|2781;Eurexp|euxassay_001214|dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|139160
Glyc	DDB1	0.618826227	0.001959878	DNA binding protein	BrainSpLMD|1642	OMIM|600045
Glyc	ST13P6	0.663185416	0.001960465			
Glyc	PRR13	0.542225149	0.001966802	Unclassified	BrainSpLMD|54458;Eurexp|euxassay_008170|embryo	OMIM|610459
Glyc	TCERG1	0.265996931	0.001970938	Transcription factor	BrainSpLMD|10915	OMIM|605409
Glyc	MMD	0.588677417	0.002011418	Integral membrane protein	BrainSpLMD|23531;Eurexp|euxassay_002968|Meckel's cartilage, axial skeleton, bladder, dorsal root ganglion, facial VII, foregut-midgut junction, glossopharyngeal IX, head mesenchyme, hindgut, incisor, limb, midgut, molar, nasal capsule, neural retina, oesophagus, olfactory, pectoral girdle and thoracic body wall, rectum, retina, rib, stomach, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|604467
Glyc	ANO10	1.528228351	0.002014563	Integral membrane protein	BrainSpLMD|55129	OMIM|613726;HPO|55129|Autosomal recessive inheritance, Cerebellar atrophy, Dysarthria, Dysmetria, Fasciculations, Gait ataxia, Hypermetric saccades, Hyperreflexia, Limb ataxia, Nystagmus, Pes cavus, Truncal ataxia
Glyc	ELOVL4	0.734478505	0.00201627	Unclassified	BrainSpLMD|6785	OMIM|605512;HPO|6785|Abnormality of color vision, Abnormality of macular pigmentation, Abnormality of the choroid, Abnormality of the fovea, Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Central scotoma, Dry skin, Dysarthria, Dysdiadochokinesis, Gait disturbance, Hypohidrosis, Hyporeflexia, Macular degeneration, Macule, Nyctalopia, Nystagmus, Papule, Paroxysmal involuntary eye movements, Progressive cerebellar ataxia, Reduced visual acuity, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Retinal thinning, Urticaria, Yellow/white lesions of the macula
Glyc	TM9SF3	0.332645432	0.002028463	Membrane transport protein	BrainSpLMD|56889	OMIM|616872
Glyc	EIF3M	0.583192207	0.002043939	Unclassified	BrainSpLMD|10480	OMIM|609641
Glyc	ABAT	0.262100804	0.002060647	Enzyme: Aminotransferase	BrainSpLMD|18;Eurexp|euxassay_001907|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, thymus primordium, trigeminal V, ventricular layer;BrainSpMouseDev|92603	SFARI||Autism, 4 - Minimal evidence;OMIM|137150;HPO|18|Agenesis of corpus callosum, Autosomal recessive inheritance, Cerebellar hypoplasia, Death in childhood, Downslanted palpebral fissures, Global developmental delay, High-pitched cry, Hyperreflexia, Lethargy, Leukodystrophy, Posterior fossa cyst, Retrognathia, Seizures, Severe muscular hypotonia, Tall stature
Glyc	TSEN2	0.333385996	0.002072979	Ribonuclease	BrainSpLMD|80746	OMIM|608753;HPO|80746|Autosomal recessive inheritance, Babinski sign, Cerebellar hypoplasia, Chorea, Clonus, Congenital onset, Dystonia, Extrapyramidal dyskinesia, Feeding difficulties, Generalized hypotonia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Limb hypertonia, Microcephaly, Muscular hypotonia of the trunk, Opisthotonus, Progressive microcephaly, Seizures, Sloping forehead
Glyc	NAT10	1.28656883	0.002080651	Enzyme: Acyltransferase	BrainSpLMD|55226;Eurexp|euxassay_000086|clavicle, cranial muscle, deltoid, dorsal root ganglion, ethmoid bone primordium, frontal bone primordium, incisor, latissimus dorsi, liver, lung, masseter, mesenchyme, metanephros, pancreas, pectoral girdle and thoracic body wall, pelvic girdle, physiological umbilical hernia, skeletal muscle, submandibular gland primordium, testis, thymus primordium, trapezius, turbinate bones, vertebral axis muscle system, vibrissa	OMIM|609221
Glyc	PDCD6	0.44255777	0.002082417	Calcium binding protein		OMIM|601057
Glyc	CLTC	0.432810872	0.002102931	Structural protein	BrainSpLMD|1213	OMIM|118955;COSMIC||ALCL, renal
Glyc	MUT	0.360649102	0.002114094	Enzyme: Mutase	BrainSpLMD|4594	OMIM|609058;HPO|4594|Abnormality of the globus pallidus, Anorexia, Autosomal recessive inheritance, Cardiomyopathy, Coma, Dehydration, Delayed CNS myelination, Dysarthria, Dystonia, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Growth delay, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Immunodeficiency, Intellectual disability, Lethargy, Leukopenia, Metabolic ketoacidosis, Methylmalonic acidemia, Methylmalonic aciduria, Muscular hypotonia, Nausea and vomiting, Pancreatitis, Respiratory distress, Splenomegaly, Stage 5 chronic kidney disease, Thrombocytopenia, Tubulointerstitial nephritis, Vomiting
Glyc	NFE2L2	0.634228694	0.002136258	Transcription factor	BrainSpLMD|4780;Eurexp|euxassay_018087|larynx, midgut, rectum, stomach, submandibular gland primordium, thyroid, trachea;BrainSpMouseDev|17791	OMIM|600492;COSMIC||NSCLC, HNSCC
Glyc	CS	0.325532845	0.002143613	Enzyme: Acyltransferase	BrainSpLMD|1431	OMIM|118950
Glyc	RAD54L2	0.406121024	0.002151969	DNA binding protein	BrainSpLMD|23132	
Glyc	OLA1P1	0.356352847	0.002175172			
Glyc	EMC7	0.558337243	0.00217667	Unclassified	BrainSpLMD|56851	
Glyc	RP4.635E18.8	0.873532125	0.002180623			
Glyc	METAP1	0.309306318	0.002194669	Aminopeptidase	BrainSpLMD|23173	OMIM|610151
Glyc	ALYREF	0.291352128	0.00220472	Chaperone	BrainSpLMD|10189	OMIM|604171
Glyc	CACNA1A	0.706944079	0.002206654	Voltage gated channel	BrainSpLMD|773;Eurexp|euxassay_006343|brain, central nervous system, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|12071	SFARI||Autism, No category;OMIM|601011;HPO|773|Abnormal vestibulo-ocular reflex, Abnormality of movement, Agitation, Anxiety, Ataxia, Athetosis, Auditory hallucinations, Autosomal dominant inheritance, Cerebellar atrophy, Cerebellar vermis atrophy, Coma, Confusion, Diplopia, Downbeat nystagmus, Drowsiness, Dysarthria, Dyscalculia, Dysphagia, Dysphasia, Dystonia, EEG abnormality, Epileptic encephalopathy, Episodic ataxia, Esotropia, Fever, Flexion contracture, Gaze-evoked nystagmus, Generalized hypotonia, Genetic anticipation, Global developmental delay, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Heterogeneous, Hyperreflexia, Hypertonia, Impaired smooth pursuit, Incomplete penetrance, Migraine, Migraine with aura, Muscle weakness, Myotonia, Nystagmus, Paresthesia, Progressive, Progressive cerebellar ataxia, Psychosis, Saccadic smooth pursuit, Seizures, Sensory neuropathy, Tinnitus, Transient unilateral blurring of vision, Tremor, Vertigo, Vestibular dysfunction, Visual hallucinations
Glyc	SGTA	0.358072388	0.002209776	Chaperone	BrainSpLMD|6449	OMIM|603419
Glyc	ENOPH1	0.638312008	0.002212246	Unclassified	BrainSpLMD|58478;Eurexp|euxassay_003092|submandibular gland primordium	
Glyc	TBC1D23	0.426843662	0.002213475	Unclassified	BrainSpLMD|55773	OMIM|617687
Glyc	OSTC	0.271627069	0.002215224	Integral membrane protein	BrainSpLMD|58505;Eurexp|euxassay_003969|Meckel's cartilage, clavicle, cranium, rib, turbinate	
Glyc	NUDCD3	0.905582636	0.002222238	Unclassified	BrainSpLMD|23386	OMIM|610296
Glyc	TIMM17A	0.365424009	0.002245128	Enzyme: Translocase	BrainSpLMD|10440	OMIM|605057
Glyc	RPL15	0.312390178	0.002257495	Ribosomal subunit	BrainSpLMD|6138	OMIM|604174;HPO|6138|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Elevated red cell adenosine deaminase activity, Fatigue, Macrocytic anemia, Migraine, Normochromic anemia, Pallor, Reticulocytopenia, Triphalangeal thumb, Ventricular septal defect
Glyc	RNF20	0.366630656	0.002272088	Ubiquitin proteasome system protein	BrainSpLMD|56254	OMIM|607699
Glyc	HACL1	0.672311007	0.00231663	Enzyme: Lyase	BrainSpLMD|26061;Eurexp|euxassay_009209|4th ventricle, calyces, choroid fissure, choroid plexus, ventricular layer	OMIM|604300
Glyc	ZNF585A	0.785385492	0.002358986	Unclassified	BrainSpLMD|199704	
Glyc	CNST	0.347147945	0.002368422	Unclassified	BrainSpLMD|163882	OMIM|613439
Glyc	CWF19L1	0.813359575	0.002386172	Unclassified	BrainSpLMD|55280	OMIM|616120;HPO|55280|Autosomal recessive inheritance, Dysarthria, Dysmetria, Generalized hypotonia, Global developmental delay, Infantile onset, Intellectual disability, Nonprogressive, Slow progression, Tremor, Truncal ataxia, Unsteady gait
Glyc	G6PC3	1.177292278	0.00238904	Enzyme: Phosphatase	BrainSpLMD|92579;Eurexp|euxassay_000619|olfactory, ventricular layer	OMIM|611045;HPO|92579|Anemia, Atrial septal defect, Autosomal recessive inheritance, Broad thumb, Cleft palate, Clinodactyly, Cryptorchidism, Erythroid hypoplasia, Failure to thrive, Growth delay, Hearing impairment, Hepatomegaly, High palate, Hypoplasia of the thymus, Lymphopenia, Microcephaly, Mitral regurgitation, Monocytosis, Neutropenia, Patent ductus arteriosus, Pectus carinatum, Phenotypic variability, Pulmonary arterial hypertension, Pulmonic stenosis, Recurrent bacterial infections, Recurrent respiratory infections, Respiratory insufficiency, Sepsis, Single transverse palmar crease, Splenomegaly, Thrombocytopenia, Varicose veins, Wide nasal bridge
Glyc	MDH2	0.290269619	0.002396755	Enzyme: Dehydrogenase	BrainSpLMD|4191;BrainSpMouseDev|17216	OMIM|154100;HPO|4191|Absent speech, Autosomal recessive inheritance, Cerebellar atrophy, Constipation, Delayed myelination, Epileptic encephalopathy, Failure to thrive, Feeding difficulties, Global developmental delay, Hypoplasia of the corpus callosum, Inability to walk, Increased CSF lactate, Increased serum lactate, Poor head control, Seizures, Skeletal muscle atrophy, Strabismus
Glyc	GLOD4	1.084247821	0.002399019	Unclassified	BrainSpLMD|51031	
Glyc	IMMP1L	0.399908837	0.002430766	Protease	BrainSpLMD|196294	OMIM|612323
Glyc	STMN4	0.459430961	0.002432996	Unclassified	BrainSpLMD|81551	
Glyc	CDK5RAP3	1.064077079	0.002435662	Cell cycle control protein	BrainSpLMD|80279	OMIM|608202
Glyc	DYM	0.465976706	0.002460609	Integral membrane protein	BrainSpLMD|54808	OMIM|607461;HPO|54808|Abnormality of epiphysis morphology, Abnormality of the ilium, Abnormality of the metaphysis, Abnormality of the wrist, Atlantoaxial instability, Autosomal recessive inheritance, Barrel-shaped chest, Beaking of vertebral bodies, Broad foot, Broad palm, Camptodactyly, Carpal bone hypoplasia, Coarse facial features, Cone-shaped epiphyses of the phalanges of the hand, Deformed sella turcica, Delayed femoral head ossification, Disproportionate short-trunk short stature, Dolichocephaly, Enlargement of the costochondral junction, Flat acetabular roof, Flat glenoid fossa, Genu valgum, Genu varum, Global developmental delay, Hip dislocation, Hyperlordosis, Hypoplasia of the odontoid process, Hypoplastic acetabulae, Hypoplastic facial bones, Hypoplastic iliac wing, Hypoplastic scapulae, Iliac crest serration, Intellectual disability, Irregular epiphyses, Joint stiffness, Kyphosis, Lumbar hyperlordosis, Mandibular prognathia, Metaphyseal irregularity, Microcephaly, Micromelia, Multicentric femoral head ossification, Multicentric ossification of proximal femoral epiphyses, Multicentric ossification of proximal humeral epiphyses, Narrow greater sacrosciatic notches, Neurological speech impairment, Pectus carinatum, Platyspondyly, Postnatal growth retardation, Prominent sternum, Rhizomelia, Scoliosis, Severe global developmental delay, Shield chest, Short metacarpal, Short metatarsal, Short neck, Short phalanx of finger, Short thorax, Skeletal dysplasia, Sloping forehead, Spinal canal stenosis, Thickened calvaria, Thoracic kyphosis, Waddling gait, Wide pubic symphysis
Glyc	CA5BP1	0.486241664	0.002467608			
Glyc	SAT2	0.457644692	0.002473014	Enzyme: Acyltransferase	BrainSpLMD|112483	OMIM|611463
Glyc	CEBPZ	0.333061222	0.002507723	Transcription regulatory protein	BrainSpLMD|10153;Eurexp|euxassay_014370|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, metatarsus, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, sternum, tibia, turbinate bones, ulna, vault of skull	OMIM|612828
Glyc	RMDN3	0.844175168	0.002516942	Cell cycle control protein	BrainSpLMD|55177	OMIM|611873
Glyc	SLC4A8	0.474968052	0.002524221	Membrane transport protein	BrainSpLMD|9498;Eurexp|euxassay_002110|adrenal gland, brain, calyces, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, pelvis, spinal cord, stroma, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|605024
Glyc	OSGEPL1	0.456694815	0.002539671	Protease	BrainSpLMD|64172	
Glyc	RAPGEF6	0.664540763	0.002544114	Guanine nucleotide exchange factor	BrainSpLMD|51735;Eurexp|euxassay_014450|cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|610499
Glyc	ADK	0.541095982	0.002575034	Enzyme: Phosphotransferase	BrainSpLMD|132;Eurexp|euxassay_001699|Meckel's cartilage, basisphenoid bone, bladder, cortex, exoccipital bone, foregut-midgut junction, hindgut, lobe, lung, midgut, molar, nucleus pulposus, oesophagus, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, rectum, rib, stomach, submandibular gland primordium, thymus primordium, vault of skull, ventricular layer, vertebra	SFARI||Autism, 4 - Minimal evidence;OMIM|102750;HPO|132|Autosomal recessive inheritance, Cerebral atrophy, Cholestasis, Decreased liver function, Delayed speech and language development, Elevated hepatic transaminases, Failure to thrive, Frontal bossing, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Hypertelorism, Infantile onset, Macrocephaly, Narrow foot, Poor speech, Portal fibrosis, Progressive, Seizures, Skeletal muscle atrophy
Glyc	UPF2	0.334906728	0.002587191	RNA binding protein	BrainSpLMD|26019	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605529
Glyc	GALNT11	0.631153542	0.002641877	Enzyme: Galactosyltransferase	BrainSpLMD|63917	OMIM|615130
Glyc	NDUFS7	0.537798745	0.002649642	Enzyme: Oxidoreductase	BrainSpLMD|374291	OMIM|601825;HPO|374291|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
Glyc	ZNF397	0.492309904	0.002678287	Transcription regulatory protein	BrainSpLMD|84307	OMIM|609601
Glyc	MT.TN	0.612742763	0.002681858			
Glyc	FBXL2	0.89179738	0.002698999	Ubiquitin proteasome system protein	BrainSpLMD|25827;Eurexp|euxassay_015900|dorsal root ganglion, glossopharyngeal IX, trigeminal V	OMIM|605652
Glyc	CCNT1	1.027790087	0.002707122	Cell cycle control protein	BrainSpLMD|904	OMIM|143055
Glyc	XPNPEP1	0.294562412	0.002742959	Aminopeptidase	BrainSpLMD|7511	OMIM|602443
Glyc	BTRC	0.54412685	0.002766361	Ubiquitin proteasome system protein	BrainSpLMD|8945;Eurexp|euxassay_018549|brain, dorsal root ganglion, glossopharyngeal IX, spinal cord, trigeminal V;BrainSpMouseDev|12019	OMIM|603482;HPO|8945|Finger syndactyly, Oligodactyly
Glyc	NBPF9	0.9132148	0.002780141	Unclassified		OMIM|613999
Glyc	AARS	1.1038189	0.002780338	Enzyme: Ligase	BrainSpLMD|16	OMIM|601065;HPO|16|Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Blepharospasm, CNS hypomyelination, Cerebral atrophy, Chorea, Congenital onset, Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment, Epileptic encephalopathy, Failure to thrive, Foot dorsiflexor weakness, Generalized hypotonia, Global developmental delay, Hammertoe, Hip dislocation, Intrauterine growth retardation, Microcephaly, Nystagmus, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Sensorineural hearing impairment, Short stature, Skeletal muscle atrophy, Spasticity, Variable expressivity
Glyc	BET1	0.5886616	0.002786143	Integral membrane protein	BrainSpLMD|10282	OMIM|605456
Glyc	ARPC3	0.506811784	0.002791156	Cytoskeletal associated protein		OMIM|604225
Glyc	PXK	0.415457206	0.002839374	Serine/threonine kinase	BrainSpLMD|54899;Eurexp|euxassay_001792|hindbrain, mantle layer, marginal layer, midbrain, spinal cord	OMIM|611450
Glyc	COPE	0.454149218	0.002876696	Transport/cargo protein	BrainSpLMD|11316	OMIM|606942
Glyc	RB1	0.567476743	0.002899532	Transcription regulatory protein	BrainSpLMD|5925;Eurexp|euxassay_005526|olfactory, tongue, vertebral axis muscle system, vibrissa;BrainSpMouseDev|19408	OMIM|614041;COSMIC||retinoblastoma, sarcoma, breast, small cell lung carcinoma, retinoblastoma, sarcoma, breast, small cell lung carcinoma;HPO|5925|Abnormal dermatoglyphics, Abnormal lactate dehydrogenase activity, Abnormality of cardiovascular system morphology, Abnormality of metabolism/homeostasis, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphysis, Autosomal dominant inheritance, Brachydactyly, Cataract, Cleft palate, Clinodactyly of the 5th finger, Elevated alkaline phosphatase, Epicanthus, Ewing's sarcoma, Finger syndactyly, Hypertelorism, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Joint swelling, Leukemia, Leukocoria, Low-set ears, Lymphoma, Microcephaly, Micrognathia, Microphthalmia, Muscular hypotonia, Neoplasm of the lung, Osteolysis, Osteosarcoma, Pain, Pinealoma, Prominent nasal bridge, Protruding ear, Ptosis, Retinal calcification, Retinoblastoma, Short neck, Short stature, Somatic mutation, Sporadic, Thickened helices, Transitional cell carcinoma of the bladder, Trigonocephaly, Vitreous hemorrhage, Wide nasal bridge
Glyc	GNL1	0.38828656	0.002927378	Unclassified	BrainSpLMD|2794	OMIM|143024
Glyc	DNM1	0.743385176	0.002935171	GTPase	BrainSpLMD|1759	OMIM|602377;HPO|1759|Abnormality of brainstem morphology, Absent speech, Aggressive behavior, Atonic seizures, Atypical absence seizures, Autistic behavior, Autosomal dominant inheritance, Developmental regression, Difficulty walking, EEG with focal sharp slow waves, Encephalopathy, Epileptic encephalopathy, Falls, Generalized hypotonia, Generalized tonic seizures, Generalized tonic-clonic seizures, Hyperactivity, Inability to walk, Intellectual disability, Mental deterioration, Myoclonus, Personality disorder, Seizures
Glyc	YARS	1.026143193	0.002937473	Enzyme: Ligase	BrainSpLMD|8565	OMIM|603623;HPO|8565|Abnormality of the foot, Autosomal dominant inheritance, Axonal regeneration, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Upper limb muscle weakness
Glyc	TMEM192	1.02956688	0.002938074	Integral membrane protein	BrainSpLMD|201931	
Glyc	CPSF2	0.270802594	0.00294211	RNA binding protein	BrainSpLMD|53981	OMIM|606028
Glyc	LRIF1	0.903334372	0.002944985	Unclassified	BrainSpLMD|55791	OMIM|615354
Glyc	FAM134C	1.262964493	0.003011364			
Glyc	CCT6P1	0.476194548	0.00307802			
Glyc	EED	0.571400451	0.003135208	Transcription regulatory protein	BrainSpLMD|8726;Eurexp|euxassay_017307|excretory component, liver, lung, thymus primordium, turbinate bones, ventricular layer;BrainSpMouseDev|13404	OMIM|605984;COSMIC||malignant peripheral nerve sheath tumours, MDS and related, lung adenocarcinoma;HPO|8726|Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Accelerated skeletal maturation, Broad foot, Broad forehead, Broad thumb, Camptodactyly of finger, Deep philtrum, Deep-set nails, Feeding difficulties in infancy, Fine hair, Global developmental delay, Hoarse voice, Hypertelorism, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Joint stiffness, Large hands, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Micrognathia, Redundant skin, Retrognathia, Round face, Spasticity, Tall stature, Thin nail
Glyc	RPS7	0.655893932	0.003143846	Ribosomal subunit		OMIM|603658;HPO|6201|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Cleft palate, Delayed puberty, Fatigue, Hypertelorism, Macrocytic anemia, Migraine, Neutropenia, Pallor, Short nose, Short stature, Thick upper lip vermilion, Wide nasal bridge
Glyc	RRAGC	0.609592293	0.003144264	G protein	BrainSpLMD|64121	OMIM|608267
Glyc	CLDN12	0.889959073	0.003163519	Cell junction protein	BrainSpLMD|9069	OMIM|611232
Glyc	ZNF546	0.633239335	0.003183154	DNA binding protein	BrainSpLMD|339327	
Glyc	ZFYVE20	0.697117047	0.003185338			
Glyc	PLEKHB2	0.502382713	0.003260998	Unclassified	BrainSpLMD|55041	
Glyc	ARMCX4	0.764718734	0.003274442			
Glyc	PPP2CB	0.524334178	0.003313469	Serine/threonine phosphatase	BrainSpLMD|5516	OMIM|176916
Glyc	INTS4	0.476641312	0.00331822	Transcription regulatory protein	BrainSpLMD|92105;Eurexp|euxassay_002731|axial muscle, basal plate, marginal layer, submandibular gland primordium, ventricular layer	OMIM|611348
Glyc	SNHG1	0.551107479	0.003330083			OMIM|603222
Glyc	MED23	0.282991693	0.003359835	Transcription regulatory protein	BrainSpLMD|9439;Eurexp|euxassay_005743|embryo	OMIM|605042;HPO|9439|Autosomal recessive inheritance, Intellectual disability
Glyc	ANAPC5	0.277011589	0.003360359	Cell cycle control protein	BrainSpLMD|51433	OMIM|606948
Glyc	FAM219A	0.936239536	0.00337249	Unclassified	BrainSpLMD|203259	
Glyc	SYNJ2BP	0.765266066	0.003373262	Integral membrane protein	BrainSpLMD|55333	OMIM|609411
Glyc	FAU	0.421815721	0.00340306	Ubiquitin proteasome system protein	BrainSpLMD|2197	OMIM|134690
Glyc	RAB6B	0.848269178	0.003424737	GTPase	BrainSpLMD|51560;Eurexp|euxassay_005421|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, respiratory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|615852
Glyc	PPP1R2	0.673974544	0.0034254	Cell cycle control protein	BrainSpLMD|5504;Eurexp|euxassay_009514|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, trigeminal V, vagus X	OMIM|601792
Glyc	PRPF38A	0.449108224	0.00344832	Unclassified	BrainSpLMD|84950;Eurexp|euxassay_001967|incisor, submandibular gland primordium, vibrissa	OMIM|617031
Glyc	PPP1R7	0.583657895	0.003481587	Serine/threonine phosphatase	BrainSpLMD|5510	OMIM|602877
Glyc	ZC3H14	0.556480361	0.003488383	RNA binding protein	BrainSpLMD|79882	OMIM|613279;HPO|79882|Autosomal recessive inheritance, Intellectual disability
Glyc	GDI2	0.292513616	0.003491203	Membrane transport protein	BrainSpLMD|2665	OMIM|600767
Glyc	CXADR	0.299487408	0.003508645	Cell surface receptor	BrainSpLMD|1525;Eurexp|euxassay_012371|bladder, cochlea, cortex, endolymphatic duct, epidermis, epithelium, facial VII, glossopharyngeal IX, incisor, larynx, left lung, mantle layer, marginal layer, meninges, mesothelium, metanephros, midgut, molar, neural retina, olfactory, oral epithelium, pancreas, pharyngo-tympanic tube, primitive seminiferous tubules, rectum, right lung, stomach, trachea, trigeminal V, urogenital mesentery, utricle, vagus X, vestibulocochlear VIII, vibrissa	OMIM|602621
Glyc	RP11.345J4.5	0.448995063	0.003554076			
Glyc	BMS1	0.40440647	0.003573956	Unclassified	BrainSpLMD|9790	OMIM|611448;HPO|9790|Aplasia cutis congenita over the scalp vertex, Autosomal dominant inheritance, Autosomal recessive inheritance, Calvarial skull defect, Congenital localized absence of skin, Skin ulcer, Spinal dysraphism
Glyc	EIF1AD	0.739387041	0.00359781	Unclassified	BrainSpLMD|84285	
Glyc	PLAA	1.257698177	0.003624902	Adapter molecule	BrainSpLMD|9373	OMIM|603873
Glyc	ELP2	0.407280764	0.00362503	Adapter molecule	BrainSpLMD|55250	OMIM|616054;HPO|55250|Aggressive behavior, Autosomal recessive inheritance, Choreoathetosis, Congenital onset, Progressive
Glyc	DGKD	0.814500395	0.003669699	Enzyme: Phosphotransferase	BrainSpLMD|8527	OMIM|601826
Glyc	MEIS1	0.633606771	0.003709055	Transcription factor	BrainSpLMD|4211;Eurexp|euxassay_010373|cornea, epithelium, hindgut, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, respiratory, sublingual gland primordium, submandibular gland primordium, trachea, ventricular layer, vibrissa;BrainSpMouseDev|17037	OMIM|601739
Glyc	ZBTB41	0.361018725	0.003735417	DNA binding protein	BrainSpLMD|360023	
Glyc	PRKAA2	0.402520906	0.003757898	Serine/threonine kinase	BrainSpLMD|5563;Eurexp|euxassay_006001|left lung, right lung, ventricle	OMIM|600497
Glyc	LINS	0.29577028	0.003761315			
Glyc	TNPO3	0.827352899	0.003771881	Nuclear receptor	BrainSpLMD|23534	OMIM|610032;HPO|23534|Abnormality of lipid metabolism, Abnormality of the intrahepatic bile duct, Abnormality of the thyroid gland, Antinuclear antibody positivity, Biliary cirrhosis, Cirrhosis, Conjugated hyperbilirubinemia, Dermatographic urticaria, Elevated alkaline phosphatase, Hepatic failure, Hepatic fibrosis, Hepatocellular carcinoma, Hyperpigmentation of the skin, Increased IgM level, Jaundice, Onychomycosis, Orthostatic hypotension, Portal hypertension, Pruritus
Glyc	NBR1	0.54258177	0.003786594	Unclassified	BrainSpLMD|4077	OMIM|166945
Glyc	SLC4A10	0.514254997	0.003817343	Membrane transport protein	BrainSpLMD|57282;Eurexp|euxassay_019732|choroid plexus, olfactory lobe	SFARI||Autism, 4 - Minimal evidence;OMIM|605556
Glyc	TXNDC9	0.540282828	0.003821652	Unclassified;Cell cycle control protein	BrainSpLMD|10190	OMIM|612564
Glyc	MOSPD2	1.147844418	0.003822385	Integral membrane protein	BrainSpLMD|158747;Eurexp|euxassay_014284|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate, vault of skull	
Glyc	RNF4	0.470842203	0.003854683	Transcription regulatory protein	BrainSpLMD|6047	OMIM|602850
Glyc	SAMM50	0.252468111	0.003857793	Unclassified	BrainSpLMD|25813	OMIM|612058
Glyc	TRAPPC1	0.569575823	0.003860301	Transport/cargo protein	BrainSpLMD|58485	OMIM|610969
Glyc	TM2D2	0.582444389	0.00387119	Integral membrane protein	BrainSpLMD|83877	OMIM|610081
Glyc	C15orf40	1.078156507	0.003891981	Unclassified	BrainSpLMD|123207	
Glyc	CBR4	0.311305613	0.00390324	Unclassified	BrainSpLMD|84869	
Glyc	CHMP2B	0.412480281	0.003947586	Transport/cargo protein	BrainSpLMD|25978;Eurexp|euxassay_017077|dorsal grey horn, intermediate grey horn, mantle layer, ventral grey horn, ventricular layer, vibrissa	OMIM|609512;HPO|25978|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Adult onset, Aggressive behavior, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apathy, Apraxia, Areflexia, Astrocytosis, Autosomal dominant inheritance, Babinski sign, Bulbar signs, Cerebral cortical atrophy, Collectionism, Depressivity, Disinhibition, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphagia, Dysphasia, Dyspnea, Dystonia, EEG with continuous slow activity, Echolalia, Emotional blunting, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontal release signs, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait disturbance, Generalized muscle weakness, Grammar-specific speech disorder, Hyperorality, Hyperreflexia, Hyporeflexia, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Muscle cramps, Mutism, Myoclonus, Neurodegeneration, Neuronal loss in central nervous system, Orofacial dyskinesia, Pain, Paralysis, Perseveration, Personality changes, Poor speech, Rapidly progressive, Respiratory failure, Respiratory insufficiency due to muscle weakness, Restlessness, Restrictive behavior, Rigidity, Skeletal muscle atrophy, Spasticity, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold, Urinary incontinence, Xerostomia
Glyc	WDR45B	0.596511723	0.003993635	Unclassified	BrainSpLMD|56270	OMIM|609226
Glyc	SEPHS2	1.47266623	0.003993701	Enzyme: Synthase	BrainSpLMD|22928;Eurexp|euxassay_002088|foregut-midgut junction, hindgut, lobe, midgut, rectum, stomach, thymus primordium	OMIM|606218
Glyc	TBRG1	0.623212219	0.004006325	DNA binding protein	BrainSpLMD|84897;Eurexp|euxassay_001972|Meckel's cartilage, basisphenoid bone, frontal bone primordium, incisor, molar, orbito-sphenoid, turbinate	OMIM|610614
Glyc	SQSTM1	0.30458502	0.004010489	Ubiquitin proteasome system protein	BrainSpLMD|8878	OMIM|601530;HPO|8878|Abnormal brain FDG positron emission tomography, Abnormal lower motor neuron morphology, Abnormal pyramidal signs, Abnormality of pelvic girdle bone morphology, Abnormality of the cerebral white matter, Absent Achilles reflex, Aggressive behavior, Amyotrophic lateral sclerosis, Anxiety, Apathy, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone pain, Brain stem compression, Bulbar palsy, Cerebral cortical atrophy, Collectionism, Cranial nerve paralysis, Depressivity, Disinhibition, Dysarthria, Dyscalculia, Dysdiadochokinesis, Dysgraphia, Dyslexia, Dysmetria, Dysphagia, Dysphasia, Dyspnea, Dystonia, EEG with continuous slow activity, EMG: myopathic abnormalities, EMG: myotonic discharges, EMG: positive sharp waves, Echolalia, Elevated alkaline phosphatase, Elevated serum creatine phosphokinase, Emotional blunting, Emotional lability, Facial palsy, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Fatty replacement of skeletal muscle, Foot dorsiflexor weakness, Fractures of the long bones, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait ataxia, Generalized muscle weakness, Heterogeneous, Hip flexor weakness, Hydroxyprolinuria, Hyperorality, Hyperreflexia, Hyporeflexia, Hypothyroidism, Inappropriate behavior, Increased susceptibility to fractures, Increased variability in muscle fiber diameter, Irritability, Lack of insight, Language impairment, Limb ataxia, Limited shoulder movement, Limited wrist extension, Long-tract signs, Loss of speech, Memory impairment, Mental deterioration, Mildly elevated creatine phosphokinase, Muscle cramps, Muscle fiber inclusion bodies, Mutism, Neurodegeneration, Nystagmus, Oculomotor apraxia, Osteolysis, Osteosarcoma, Pain, Paralysis, Paraparesis, Patchy osteosclerosis, Perseveration, Personality changes, Phenotypic variability, Poor speech, Premature loss of teeth, Progressive, Respiratory failure, Restlessness, Restrictive behavior, Rimmed vacuoles, Scapular winging, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Spasticity, Steppage gait, Stereotypy, Tetraparesis, Thickened nuchal skin fold, Tibialis muscle weakness, Tremor, Variable expressivity, Vertebral compression fractures, Vertical supranuclear gaze palsy, Xerostomia
Glyc	FGFR1OP	1.263444312	0.004052147	Unclassified	BrainSpLMD|11116	OMIM|605392;COSMIC||MPN, NHL
Glyc	TXNL1	0.365085579	0.004064984	Enzyme: Oxidoreductase	BrainSpLMD|9352	OMIM|603049
Glyc	STRIP1	0.500782346	0.004109948	Unclassified	BrainSpLMD|85369;Eurexp|euxassay_002357|brain, dorsal root ganglion, facial VII, ganglion, glossopharyngeal IX, spinal cord, trigeminal V, vestibulocochlear VIII	
Glyc	CCNC	0.452546064	0.004116143	Cell cycle control protein	BrainSpLMD|892	OMIM|123838;COSMIC||T-ALL
Glyc	NDUFA2	0.67776214	0.004160387	Enzyme: Oxidoreductase	BrainSpLMD|4695	OMIM|602137;HPO|4695|Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
Glyc	VPS8	0.453676933	0.00417007	Unclassified	BrainSpLMD|23355;Eurexp|euxassay_012588|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vagus X	
Glyc	SMAP1	0.523096043	0.004171967	Integral membrane protein	BrainSpLMD|60682	OMIM|611372
Glyc	ATP5SL	0.643558493	0.004213642			
Glyc	RP11.156E6.1	0.630340737	0.00428189			
Glyc	KLHL12	0.370373294	0.004365873	Unclassified	BrainSpLMD|59349	OMIM|614522
Glyc	ARPC2	0.5368486	0.004381959	Cytoskeletal associated protein	BrainSpLMD|10109	OMIM|604224
Glyc	NPIPP1	0.826964439	0.004414828			
Glyc	LTA4H	0.387919782	0.004418272	Enzyme: Hydrolase	BrainSpLMD|4048	OMIM|151570
Glyc	PRRT2	0.313343108	0.004425755	Integral membrane protein	BrainSpLMD|112476	OMIM|614386;HPO|112476|Abnormality of movement, Abnormality of the face, Abnormality of vision, Absence seizures, Ataxia, Autosomal dominant inheritance, Choreoathetosis, Deeply set eye, Dysesthesia, Dyskinesia, Focal seizures, Generalized seizures, Hemiplegia/hemiparesis, Hyperactive deep tendon reflexes, Hypertonia, Incomplete penetrance, Migraine, Muscular hypotonia, Myoclonus, Normal interictal EEG, Nystagmus, Orofacial dyskinesia, Paresthesia, Paroxysmal choreoathetosis, Paroxysmal dyskinesia, Paroxysmal dystonia, Reduced consciousness/confusion, Seizures, Torsion dystonia
Glyc	STYX	0.91659805	0.004446324	Unclassified	BrainSpLMD|6815;Eurexp|euxassay_007130|embryo	OMIM|615814
Glyc	SNHG6	0.272469284	0.004497054			OMIM|612215
Glyc	GPBP1L1	0.40616	0.004608597	Unclassified	BrainSpLMD|60313	
Glyc	ASXL1	1.269055271	0.004661005	Transcription regulatory protein	BrainSpLMD|171023	OMIM|612990;COSMIC||MDS, CMML, Bohring-Opitz syndrome;HPO|171023|Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Abnormality of the optic nerve, Abnormality of the pancreas, Accessory oral frenulum, Agenesis of corpus callosum, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Biparietal narrowing, Broad alveolar ridges, Broad palm, Camptodactyly, Camptodactyly of finger, Cerebral cortical atrophy, Cleft palate, Cleft upper lip, Convex nasal ridge, Dandy-Walker malformation, Death in infancy, Deep palmar crease, Deep plantar creases, Delayed peripheral myelination, Dislocated radial head, Elbow dislocation, Facial hemangioma, Failure to thrive, Feeding difficulties, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Heterotopia, Hirsutism, Hyperechogenic pancreas, Hypertelorism, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, profound, Intellectual disability, severe, Intestinal malrotation, Intrauterine growth retardation, Limitation of joint mobility, Long face, Low anterior hairline, Low-set ears, Mesomelic/rhizomelic limb shortening, Microcephaly, Micrognathia, Myelodysplasia, Myopia, Narrow chest, Narrow forehead, Narrow palate, Nevus flammeus, Nevus flammeus of the forehead, Overlapping toe, Platyspondyly, Polyhydramnios, Posteriorly rotated ears, Prominent forehead, Prominent metopic ridge, Proptosis, Retinopathy, Retrognathia, Sacral dimple, Seizures, Short thorax, Short toe, Somatic mutation, Strabismus, Supernumerary nipple, Syndactyly, Synophrys, Tapered finger, Thick hair, Trigonocephaly, Ulnar deviation of finger, Ulnar deviation of the wrist, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Vesicoureteral reflux, Wide intermamillary distance, Wide nasal bridge
Glyc	ZFAND1	0.309424487	0.004685365	Unclassified	BrainSpLMD|79752	
Glyc	PRMT5	0.483436783	0.004703239	Enzyme: Methyltransferase	BrainSpLMD|10419	OMIM|604045
Glyc	BPGM	0.657371183	0.004746781	Enzyme: Mutase	BrainSpLMD|669;Eurexp|euxassay_007323|liver	OMIM|613896;HPO|669|Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Cholecystitis, Cholelithiasis, Jaundice, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Splenomegaly
Glyc	DDX41	0.520344683	0.004783584	RNA helicase	Eurexp|euxassay_000473|pancreas, testis	OMIM|608170
Glyc	TMEM205	0.611386972	0.00484977	Unclassified	BrainSpLMD|374882	OMIM|613771
Glyc	TARS2	0.741620947	0.004922071	Enzyme: Ligase	BrainSpLMD|80222	OMIM|612805;HPO|80222|Autosomal recessive inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hypoplasia of the corpus callosum, Increased serum lactate, Limb hypertonia, Muscular hypotonia of the trunk
Glyc	UBE2D3	0.333115553	0.004960857	Ubiquitin proteasome system protein	BrainSpLMD|7323;Eurexp|euxassay_006830|embryo	OMIM|602963
Glyc	APBB1	0.336574896	0.004995893	Adapter molecule	BrainSpLMD|322;Eurexp|euxassay_018324|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|602709
Glyc	POLR2A	0.354104595	0.005028388	RNA polymerase	BrainSpLMD|5430	OMIM|180660
Glyc	SSR4	0.336217323	0.005033673	Membrane transport protein	BrainSpLMD|6748;Eurexp|euxassay_002889|Meckel's cartilage, axial skeleton, basisphenoid bone, chondrocranium, exoccipital bone, incisor, lobe, molar, nasal capsule, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, rib, submandibular gland primordium, thymus primordium, turbinate	OMIM|300090;HPO|6748|Abnormal facial shape, Abnormality of upper lip vermillion, Clinodactyly, Congenital onset, Deeply set eye, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hypospadias, Intellectual disability, Joint dislocation, Macrotia, Microcephaly, Micrognathia, Scoliosis, Seizures, Strabismus, Type I transferrin isoform profile, Vomiting, Wide mouth, Widely spaced teeth, X-linked recessive inheritance
Glyc	RPL18	0.502684451	0.005080765	Ribosomal subunit	BrainSpLMD|6141	OMIM|604179
Glyc	SSBP1	0.489095667	0.005092272	DNA binding protein	BrainSpLMD|6742;Eurexp|euxassay_001696|cortex, oesophagus, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|600439
Glyc	KIF5A	0.290545918	0.005092512	Motor protein	BrainSpLMD|3798;Eurexp|euxassay_018169|Meckel's cartilage, axial skeleton, basioccipital bone, brain, cervical, cervico-thoracic, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, olfactory, orbito-sphenoid, pelvic girdle, radius, rib, scapula, spinal cord, temporal bone, thoracic, tibia, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|602821;HPO|3798|Ankle clonus, Athetosis, Autosomal dominant inheritance, Babinski sign, Chorea, Congenital onset, Cortical visual impairment, Delayed myelination, Developmental stagnation, Distal sensory impairment, Dysphagia, Feeding difficulties, Generalized hypotonia, Hyperreflexia, Impaired vibration sensation in the lower limbs, Knee clonus, Lower limb muscle weakness, Microcephaly, Nystagmus, Pes cavus, Phenotypic variability, Progressive, Progressive leukoencephalopathy, Ptosis, Scoliosis, Spastic gait, Spastic paraplegia, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
Glyc	HKR1	0.639395175	0.005120953	Transcription regulatory protein	BrainSpLMD|284459	OMIM|165250
Glyc	CDC40	0.462164749	0.005126645	Transcription regulatory protein	BrainSpLMD|51362;Eurexp|euxassay_012662|choroid plexus, floorplate, olfactory	OMIM|605585
Glyc	AZI2	0.566956398	0.005129948	Unclassified	BrainSpLMD|64343	OMIM|609916
Glyc	UQCRC2	0.41963424	0.005133824	Enzyme: Reductase	BrainSpLMD|7385;Eurexp|euxassay_018923|aorta, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, vibrissa	OMIM|191329;HPO|7385|Autosomal recessive inheritance, Hyperammonemia, Hypoglycemia, Increased serum lactate, Increased serum pyruvate, Metabolic acidosis
Glyc	NDUFB4	0.681651296	0.005135508	Enzyme: Oxidoreductase		OMIM|603840
Glyc	CEP44	0.893063873	0.005137569	Unclassified	BrainSpLMD|80817	
Glyc	CDK16	0.257286671	0.005147009	Serine/threonine kinase	BrainSpLMD|5127;Eurexp|euxassay_018526|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|311550
Glyc	DNAJC3	0.77092557	0.005148432	Translation regulatory protein	BrainSpLMD|5611	OMIM|601184;HPO|5611|Atrophy/Degeneration affecting the brainstem, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Sensorineural hearing impairment, Short stature, Type I diabetes mellitus
Glyc	ZDBF2	0.688003325	0.00518189	Unclassified	Eurexp|euxassay_011111|diaphragm, footplate, handplate, mantle layer, paraxial mesenchyme, pituitary, rest of mesenchyme, skeletal muscle, vertebral axis muscle system	OMIM|617059
Glyc	NUP214	0.862322182	0.005207669	Transport/cargo protein	BrainSpLMD|8021	OMIM|114350;COSMIC||AML, T-ALL;HPO|8021|Acute lymphoblastic leukemia, Polygenic inheritance
Glyc	TAF1D	0.446829341	0.005325822	Unclassified	BrainSpLMD|79101	OMIM|612823
Glyc	GS1.124K5.11	0.686926364	0.005347141			
Glyc	DPH3	0.368081539	0.005363694	Unclassified	BrainSpLMD|285381	OMIM|608959
Glyc	MEIS3	1.195145166	0.005372679	Transcription regulatory protein	BrainSpLMD|56917;BrainSpMouseDev|17304	
Glyc	JARID2	0.554002965	0.005392632	DNA binding protein	BrainSpLMD|3720	SFARI||Autism, No category;OMIM|601594
Glyc	GSPT2	1.345860946	0.005404173	Cell cycle control protein	BrainSpLMD|23708	OMIM|300418
Glyc	CCT5	0.559470778	0.005454167	Chaperone	BrainSpLMD|22948	OMIM|610150;HPO|22948|Abnormality of the foot, Acral ulceration and osteomyelitis leading to autoamputation of digits, Atrophy of the spinal cord, Autosomal recessive inheritance, Babinski sign, Clonus, Decreased circulating low-density lipoprotein levels, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment, Distal sensory loss of all modalities, Hypocholesterolemia, Infantile onset, Juvenile onset, Peripheral axonal neuropathy, Spastic gait, Spastic paraplegia
Glyc	MRPS22	0.628658024	0.0055216	Ribosomal subunit	BrainSpLMD|56945	OMIM|605810;HPO|56945|Abnormality of the amniotic fluid, Abnormality of the renal tubule, Antenatal onset, Ascites, Autosomal recessive inheritance, Congenital onset, Death in infancy, Delayed myelination, Edema, Generalized hypotonia, Growth delay, Hypertrophic cardiomyopathy, Hypoplasia of the corpus callosum, Increased serum lactate, Leukoencephalopathy, Low-set ears, Metabolic acidosis, Microcephaly, Muscular hypotonia of the trunk, Posteriorly rotated ears, Redundant neck skin, Retrognathia, Seizures, Spastic tetraplegia
Glyc	PRPF6	0.372625385	0.005536883	Adapter molecule	BrainSpLMD|24148	OMIM|613979;HPO|24148|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Reduced visual acuity, Rod-cone dystrophy, Sensorineural hearing impairment, Visual impairment, Wide nasal bridge
Glyc	ATP6V0D1	0.258021688	0.005541056	ATPase	BrainSpLMD|9114;Eurexp|euxassay_000642|dorsal root ganglion, facial VII, inferior, superior, trigeminal V, vagus X	OMIM|607028
Glyc	NARS	0.821722834	0.005547327	Enzyme: Ligase	BrainSpLMD|4677	OMIM|108410
Glyc	PRPF8	0.345851911	0.005567935	RNA binding protein	BrainSpLMD|10594	OMIM|607300;HPO|10594|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypopigmentation of the fundus, Hypoplasia of penis, Incomplete penetrance, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Retinal degeneration, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
Glyc	TM9SF4	0.335296959	0.005605925	Integral membrane protein	BrainSpLMD|9777	OMIM|617727
Glyc	VPS37A	0.427638123	0.005633386	Growth inhibitory factor	BrainSpLMD|137492	OMIM|609927;HPO|137492|Autosomal recessive inheritance, Clonus, Cognitive impairment, Delayed speech and language development, Gait disturbance, Global developmental delay, Hypertrichosis, Kyphosis, Spastic paraplegia
Glyc	MPLKIP	0.631274893	0.005668704	Unclassified	BrainSpLMD|136647	OMIM|609188;HPO|136647|Autosomal recessive inheritance, Brittle hair, Concave nail, Decreased fertility, Global developmental delay, Growth delay, Intellectual disability, Macrotia, Microcephaly, Small nail, Sparse hair, Trichorrhexis nodosa
Glyc	PGAM5	0.827114984	0.005697329	Enzyme: Mutase	BrainSpLMD|192111	OMIM|614939
Glyc	RNF114	0.556822801	0.005703856	Ubiquitin proteasome system protein	BrainSpLMD|55905	OMIM|612451
Glyc	TCEA2	0.491646806	0.005708035	Transcription factor	BrainSpLMD|6919	OMIM|604784
Glyc	OAT	0.276351405	0.005708069	Enzyme: Aminotransferase	BrainSpLMD|4942	OMIM|613349;HPO|4942|Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Blindness, Chorioretinal atrophy, EMG abnormality, Myopia, Nyctalopia, Posterior subcapsular cataract, Proximal muscle weakness
Glyc	NFXL1	1.3140952	0.005757044	Transcription factor	BrainSpLMD|152518;BrainSpMouseDev|65148	
Glyc	NDUFB7	0.726422748	0.005806176	Adhesion molecule	BrainSpLMD|4713	OMIM|603842
Glyc	HNRNPCP2	0.420920165	0.005812399			
Glyc	PNN	0.440677827	0.00586333	Adhesion molecule	BrainSpLMD|5411;BrainSpMouseDev|18712	OMIM|603154
Glyc	WBP11	0.355724901	0.005870758	RNA binding protein	BrainSpLMD|51729	
Glyc	SLC35F1	0.345475626	0.005898642	Integral membrane protein	Eurexp|euxassay_019705|dorsal root ganglion, embryo, glossopharyngeal IX, intermediate grey horn, mantle layer, rest of cerebellum, trigeminal V, ventral grey horn, ventricular layer	
Glyc	HDLBP	0.600175353	0.005903087	Transport/cargo protein;RNA binding protein	BrainSpLMD|3069	OMIM|142695
Glyc	RPRD1A	0.520469429	0.005904003	Unclassified	BrainSpLMD|55197;Eurexp|euxassay_001211|calyces, dorsal root ganglion, submandibular gland primordium	OMIM|610347
Glyc	DERL2	0.465495706	0.005917496	Integral membrane protein	BrainSpLMD|51009	OMIM|610304
Glyc	C5orf45	0.912326343	0.005923897			
Glyc	MRPL49	0.796871763	0.005933266	Ribosomal subunit	BrainSpLMD|740	OMIM|606866
Glyc	ZNHIT3	1.038666713	0.005941455	Transcription regulatory protein	BrainSpLMD|9326;Eurexp|euxassay_019512|liver, pancreas, submandibular gland primordium, thymus primordium, vibrissa	OMIM|604500;HPO|9326|Abnormality of eye movement, Abnormality of movement, Abnormality of the hand, Abnormality of the palate, Abnormality of upper lip, Anteverted nares, Atrophy/Degeneration affecting the brainstem, Autosomal recessive inheritance, Biparietal narrowing, Cerebellar atrophy, Cerebral cortical atrophy, Developmental stagnation, Drowsiness, Edema, Edema of the lower limbs, Epicanthus, External ear malformation, Feeding difficulties, Feeding difficulties in infancy, Full cheeks, Gingival overgrowth, Global developmental delay, Hydrocephalus, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile encephalopathy, Infantile spasms, Intellectual disability, profound, Intellectual disability, severe, Limitation of joint mobility, Macrotia, Malar flattening, Microcephaly, Midface retrusion, Myoclonus, Narrow forehead, Neuronal loss in central nervous system, Open mouth, Optic atrophy, Pachygyria, Palpebral edema, Peripheral dysmyelination, Peripheral edema, Polymicrogyria, Porencephalic cyst, Progressive microcephaly, Recurrent respiratory infections, Retrognathia, Seizures, Severe muscular hypotonia, Short nose, Tapered finger, Tented upper lip vermilion, Undetectable visual evoked potentials, Ventriculomegaly, Visual loss
Glyc	PPP2CA	0.861296846	0.005961686	Serine/threonine phosphatase	BrainSpLMD|5515	OMIM|176915
Glyc	KBTBD2	0.693355904	0.005970953	Cytoskeletal associated protein	BrainSpLMD|25948	
Glyc	ZNF22	0.337175794	0.005994708	DNA binding protein	BrainSpLMD|7570;Eurexp|euxassay_004421|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|194529
Glyc	EVI5	0.757119505	0.006127003	Unclassified	BrainSpLMD|7813;Eurexp|euxassay_001717|cervical, cervico-thoracic, lobe;BrainSpMouseDev|13797	OMIM|602942
Glyc	GLYR1	0.397523144	0.006259593	Enzyme: Dehydrogenase	BrainSpLMD|84656	OMIM|610660
Glyc	UQCRH	0.569155482	0.006267602	Enzyme: Reductase	Eurexp|euxassay_006525|anterior, axial skeleton, bladder, brain, cortex, epidermis, epithelium, external, footplate, handplate, incisor, inner ear, integumental system, left lung, liver, metanephros, midgut, molar, naso-lacrimal duct, olfactory, pancreas, paraxial mesenchyme, pharyngo-tympanic tube, posterior, rectum, renal/urinary system, rest of mesenchyme, rest of skin, retina, right lung, skeletal muscle, spinal cord, stomach, submandibular gland primordium, thymus primordium, trachea, urethra, vertebral axis muscle system, vibrissa	OMIM|613844
Glyc	DNAH14	0.800994859	0.006313743	Motor protein	BrainSpLMD|127602	OMIM|603341
Glyc	SDAD1	0.691804435	0.006316463	Unclassified	BrainSpLMD|55153	
Glyc	CAMKV	0.639633576	0.006318612	Unclassified	BrainSpLMD|79012;Eurexp|euxassay_007008|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, phalanx, spinal cord	OMIM|614993
Glyc	DCAF12	0.856411585	0.006329563	Unclassified	BrainSpLMD|25853	
Glyc	DNAL1	0.932802893	0.006361052	Unclassified	BrainSpLMD|83544	OMIM|610062;HPO|83544|Abnormal ciliary motility, Absent outer dynein arms, Autosomal recessive inheritance, Bronchiectasis, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Congenital onset, Recurrent respiratory infections, Situs inversus totalis
Glyc	SLC48A1	0.566674312	0.006428755	Transport/cargo protein	BrainSpLMD|55652	OMIM|612187
Glyc	TTC14	0.521525485	0.006480208	Unclassified	BrainSpLMD|151613	
Glyc	GIGYF2	0.459060672	0.006488347	Unclassified	BrainSpLMD|26058	SFARI||Autism, 2 - Strong candidate;OMIM|612003
Glyc	GOLGB1	0.862423634	0.006529825	Structural protein	BrainSpLMD|2804	OMIM|602500
Glyc	TMCO1	0.411538602	0.006567127	Integral membrane protein	BrainSpLMD|54499;Eurexp|euxassay_010558|clavicle, mandible, maxilla, rib	OMIM|614123;HPO|54499|Bifid ribs, Brachycephaly, Broad philtrum, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Coarse hair, Downslanted palpebral fissures, Epicanthus, Hemivertebrae, Hernia, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Low posterior hairline, Low-set, posteriorly rotated ears, Macrocephaly, Midface retrusion, Narrow chest, Polyhydramnios, Rib fusion, Scoliosis, Short neck, Short nose, Short stature, Sprengel anomaly, Strabismus, Synophrys, Thick eyebrow, Ventriculomegaly, Wide mouth, Wide nose
Glyc	BTBD10	0.753845893	0.006592384	Transcription regulatory protein	BrainSpLMD|84280	OMIM|615933
Glyc	PDZD4	0.470624422	0.006610968	Unclassified	BrainSpLMD|57595;Eurexp|euxassay_015182|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, primitive seminiferous tubules, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300634
Glyc	PPIG	0.621355567	0.006618818	Enzyme: Isomerase	BrainSpLMD|9360	OMIM|606093
Glyc	ERGIC3	0.699577819	0.00664831	Unclassified	BrainSpLMD|51614	OMIM|616971
Glyc	PROSC	0.823238485	0.006685874			
Glyc	MSANTD4	0.361878412	0.006693104	Unclassified	BrainSpLMD|84437;Eurexp|euxassay_009273|embryo	
Glyc	CCDC92	0.443027342	0.006743065	Unclassified	BrainSpLMD|80212;Eurexp|euxassay_002486|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, thoracic, trigeminal V, ventral grey horn, vestibulocochlear VIII	
Glyc	RRNAD1	1.455391715	0.006748026	Unclassified	BrainSpLMD|51093	
Glyc	SDK2	0.516632158	0.006764323	Adhesion molecule	BrainSpLMD|54549;Eurexp|euxassay_009454|clavicle, femur, mantle layer, tongue, ventral grey horn, ventricular layer	OMIM|607217
Glyc	GNL2	0.294784295	0.006786157	GTPase	BrainSpLMD|29889;Eurexp|euxassay_001872|cervical, cervico-thoracic, cortex, dorsal root ganglion, thymus primordium, vibrissa	OMIM|609365
Glyc	POLR2K	0.332973644	0.006836741	Transcription regulatory protein	BrainSpLMD|5440;Eurexp|euxassay_019504|incisor, liver, lung, molar, olfactory, submandibular gland primordium, thymus primordium, vibrissa, vomeronasal organ	OMIM|606033
Glyc	SUPT5H	0.377934206	0.007043494	Transcription factor	BrainSpLMD|6829;Eurexp|euxassay_004056|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|20686	OMIM|602102
Glyc	ZRANB1	0.769216973	0.007071332	Transcription regulatory protein	BrainSpLMD|54764	OMIM|611749
Glyc	RP11.701H24.3	0.658073139	0.007083768			
Glyc	ATG12	0.363017785	0.007091683	Unclassified	BrainSpLMD|9140;Eurexp|euxassay_005505|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X	OMIM|609608
Glyc	FOXK1	0.693754788	0.007142227	Transcription factor	Eurexp|euxassay_010907|floor plate, floorplate, mantle layer;BrainSpMouseDev|17193	OMIM|616302
Glyc	TADA1	0.30450052	0.007228077	DNA binding protein	BrainSpLMD|117143	OMIM|612763
Glyc	PPP2R1A	0.670092413	0.007284275	Serine/threonine phosphatase	BrainSpLMD|5518;Eurexp|euxassay_002761|dorsal root ganglion, facial VII, glossopharyngeal IX, inferior, nucleus pulposus, superior, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII	OMIM|605983;COSMIC||clear cell ovarian carcinoma;HPO|5518|Abnormal hair whorl, Anteverted nares, Autosomal dominant inheritance, Broad hallux, Congenital visual impairment, Delayed gross motor development, Delayed myelination, Deviation of the 5th finger, Downslanted palpebral fissures, Facial asymmetry, Facial hypotonia, Generalized hypotonia, Global developmental delay, Hydrocephalus, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Joint hypermobility, Open mouth, Pectus excavatum, Plagiocephaly, Prominent metopic ridge, Seizures, Tented upper lip vermilion, Ventriculomegaly
Glyc	CHCHD6	0.796943519	0.007311851	Unclassified	BrainSpLMD|84303	OMIM|615634
Glyc	AMN1	0.33078044	0.007339464	Unclassified	BrainSpLMD|196394	
Glyc	TMEM245	0.825304892	0.007414118	Integral membrane protein	BrainSpLMD|23731;Eurexp|euxassay_000141|dorsal root ganglion, trigeminal V, vagus X, vestibulocochlear VIII	
Glyc	PTPRG	0.836836281	0.007564459	Receptor tyrosine phosphatase	BrainSpLMD|5793	OMIM|176886
Glyc	UBN2	0.483063004	0.007580799	Unclassified		SFARI||Autism, 2 - Strong candidate;OMIM|613841
Glyc	ADRM1	0.537795793	0.007582135	Adhesion molecule;Cell surface receptor	BrainSpLMD|11047;Eurexp|euxassay_011943|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|610650
Glyc	ZNF766	0.369555885	0.007633787	DNA binding protein		
Glyc	RPL36AL	0.672810225	0.007690616	Ribosomal subunit	BrainSpLMD|6166	OMIM|180469
Glyc	RP11.446E9.1	0.587265738	0.007704761			
Glyc	SUMO2P17	0.737589275	0.00776821			
Glyc	UTP6	0.754937172	0.007870294	Unclassified	BrainSpLMD|55813	
Glyc	DGCR2	0.993684343	0.007923849	Adhesion molecule	BrainSpLMD|9993	OMIM|600594;HPO|9993|Abnormality of the ear, Abnormality of the endocrine system, Abnormality of the hand, Aggressive behavior, Autosomal dominant inheritance, Blepharophimosis, Bulbous nose, Cleft palate, Hypocalcemia, Inguinal hernia, Intellectual disability, Microcephaly, Mood swings, Muscular hypotonia, Nasal speech, Open mouth, Paranoia, Pierre-Robin sequence, Posterior embryotoxon, Recurrent infections, Retinal vascular tortuosity, Retrognathia, Right aortic arch with mirror image branching, Short stature, Specific learning disability, Tetralogy of Fallot, Umbilical hernia, Underdeveloped nasal alae, Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Ventricular septal defect
Glyc	ENSA	0.491057581	0.007926277	Ligand	BrainSpLMD|2029	OMIM|603061
Glyc	HS6ST1	0.302045396	0.007942468	Enzyme: Sulphotransferase	Eurexp|euxassay_006185|bladder, brain, calyces, cochlea, dorsal root ganglion, epithelium, facial VII, ganglion, glossopharyngeal IX, incisor, left lung, liver, marginal layer, midgut, molar, neural retina, olfactory, oral epithelium, pancreas, paraxial mesenchyme, pelvis, pharyngo-tympanic tube, primitive seminiferous tubules, rectum, rest of mesenchyme, retina, right lung, skeletal muscle, spinal cord, stomach, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, ureter, urethra, utricle, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|604846;HPO|9394|Abnormality of body height, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Anosmia, Anterior hypopituitarism, Anxiety, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Depressivity, Erectile abnormalities, Eunuchoid habitus, Female hypogonadism, Gynecomastia, Hypogonadotrophic hypogonadism, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Increased female libido, Male hypogonadism, Micropenis, Non-obstructive azoospermia, Osteopenia, Osteoporosis, Primary amenorrhea, Reduced bone mineral density, Secondary amenorrhea, Sparse body hair, Wide intermamillary distance
Glyc	SNRPD1	0.496315467	0.007964863	RNA binding protein	BrainSpLMD|6632	OMIM|601063
Glyc	CCDC90B	0.421213335	0.007980238	Unclassified	BrainSpLMD|60492	
Glyc	TPST1	0.682629963	0.008038814	Enzyme: Sulphotransferase	BrainSpLMD|8460	OMIM|603125
Glyc	YWHAZ	0.291905105	0.008089618	Adapter molecule	BrainSpLMD|7534	OMIM|601288
Glyc	TRIM28	0.512727522	0.008208509	Transcription regulatory protein	BrainSpLMD|10155;BrainSpMouseDev|21608	OMIM|601742
Glyc	ZNF791	0.648920824	0.008245143	Transcription regulatory protein		
Glyc	CAMLG	0.760724468	0.008319707	Membrane bound ligand	BrainSpLMD|819;Eurexp|euxassay_001896|dorsal root ganglion, trigeminal V	OMIM|601118
Glyc	KRTCAP2	1.267905334	0.008329853	Unclassified	BrainSpLMD|200185	
Glyc	RP11.90H3.1	0.305444332	0.008395767			
Glyc	LINC00493	0.27735587	0.008499742			
Glyc	WASF3	0.350138242	0.00860093	Cytoskeletal associated protein	BrainSpLMD|10810;Eurexp|euxassay_003179|adrenal gland, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, spinal cord, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|605068
Glyc	ANKS1A	0.97774383	0.008734939	Adapter molecule	BrainSpLMD|23294;Eurexp|euxassay_005066|mantle layer, oculomotor III, olfactory, trochlear IV, ventral grey horn, ventricular layer	OMIM|608994
Glyc	GNB5	0.263815481	0.008743828	G protein	BrainSpLMD|10681	OMIM|604447;HPO|10681|Abnormal electroretinogram, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Bradycardia, Delayed speech and language development, Generalized hypotonia, Global developmental delay, Intellectual disability, Nystagmus, Retinal degeneration, Sick sinus syndrome
Glyc	MAP1LC3B	0.645778417	0.008793593	Unclassified	BrainSpLMD|81631	OMIM|609604
Glyc	GRB10	0.995566325	0.008806555	Adapter molecule	BrainSpLMD|2887;Eurexp|euxassay_011372|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|601523
Glyc	ZDHHC6	0.405704382	0.008812371	Integral membrane protein	BrainSpLMD|64429	
Glyc	VTI1B	0.7819681	0.009016428	Unclassified	BrainSpLMD|10490;Eurexp|euxassay_009816|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	OMIM|603207
Glyc	CDON	0.585865451	0.009040994	Cell surface receptor	BrainSpLMD|50937;BrainSpMouseDev|37081	OMIM|608707;HPO|50937|Agenesis of corpus callosum, Autosomal dominant inheritance, Cleft lip, Cleft palate, Delayed puberty, Ectopic posterior pituitary, Failure to thrive, Global developmental delay, Holoprosencephaly, Hypoglycemia, Hypoplasia of penis, Hypotelorism, Hypothyroidism, Microcephaly, Polysplenia, Proptosis, Short stature, Sporadic, Synophrys, Thick eyebrow, Variable expressivity
Glyc	LRCH2	0.266506236	0.009128176	Unclassified	BrainSpLMD|57631;Eurexp|euxassay_013951|anterior abdominal wall, bladder, brain, cortex, extrinsic, metanephros, spinal cord	
Glyc	COIL	0.297633571	0.009239419	RNA binding protein	BrainSpLMD|8161;Eurexp|euxassay_013629|dorsal grey horn, mantle layer	OMIM|600272
Glyc	FOXK2	0.437310143	0.009311071	Transcription factor;DNA binding protein	BrainSpLMD|3607;BrainSpMouseDev|44679	OMIM|147685
Glyc	ZNHIT1	0.340293639	0.009360475	Unclassified	BrainSpLMD|10467	
Glyc	MAP3K2	0.252258166	0.009524797	Serine/threonine kinase	BrainSpLMD|10746	OMIM|609487
Glyc	MAPK6	0.350267306	0.009568629	Serine/threonine kinase	BrainSpLMD|5597	OMIM|602904
Glyc	PRMT1	0.63078419	0.009684427	Enzyme: Methyltransferase	BrainSpLMD|3276;Eurexp|euxassay_017432|cardiovascular system, chondrocranium, cortex, dorsal root ganglion, incisor, integumental system, left lung, lumen, pancreas, right lung, skin, submandibular gland primordium, thymus primordium, vertebral axis muscle system, vibrissa, visceral organ	OMIM|602950
Glyc	CMPK1	0.473823096	0.00970064	Enzyme: Phosphotransferase	BrainSpLMD|51727	OMIM|191710
Glyc	SSU72	0.300186503	0.009899973	Unclassified	BrainSpLMD|29101	OMIM|617680
Glyc	EIF3F	0.412819968	0.009921519	Translation regulatory protein		OMIM|603914
U1	COL1A1	5.288053887	0	Extracellular matrix protein	BrainSpLMD|1277;BrainSpMouseDev|12625	OMIM|120150;COSMIC||DFSP, aneurysmal bone cyst, Osteogenesis imperfecta;HPO|1277|Abnormality of pelvic girdle bone morphology, Abnormality of the nervous system, Abnormality of the thorax, Absent ossification of calvaria, Aortic dilatation, Aortic root dilatation, Atrophic scars, Autosomal dominant inheritance, Autosomal recessive inheritance, Basilar impression, Beaded ribs, Behavioral abnormality, Biconcave flattened vertebrae, Biconcave vertebral bodies, Blue sclerae, Bowel diverticulosis, Bowing of limbs due to multiple fractures, Breech presentation, Broad long bones, Bruising susceptibility, Calvarial hyperostosis, Cellulitis, Cigarette-paper scars, Congenital bilateral hip dislocation, Congenital diaphragmatic hernia, Congestive heart failure, Convex nasal ridge, Cortical irregularity, Crumpled long bones, Decreased calvarial ossification, Delayed gross motor development, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Ectopia lentis, Epicanthus, Erythema, Femoral bowing, Femoral bowing present at birth, straightening with time, Femoral hernia, Fever, Fibrosarcoma, Fragile skin, Frontal bossing, Gastroesophageal reflux, Generalized hypotonia, Genu recurvatum, Growth abnormality, Hallux valgus, Hearing impairment, Hyperesthesia, Hyperextensibility at elbow, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Hyperextensible skin, Increased susceptibility to fractures, Infantile muscular hypotonia, Inguinal hernia, Irregularly spaced teeth, Joint dislocation, Joint hyperflexibility, Joint hypermobility, Joint laxity, Kyphosis, Large fontanelles, Lop ear, Malar flattening, Micrognathia, Midface retrusion, Mild short stature, Mitral valve prolapse, Molluscoid pseudotumors, Multiple prenatal fractures, Muscle weakness, Myopia, Narrow maxilla, Neonatal short-limb short stature, Neoplasm of the skin, Nonimmune hydrops fetalis, Osteoarthritis, Osteopenia, Otosclerosis, Pectus carinatum, Pectus excavatum, Periosteal thickening of long tubular bones, Pes planus, Platybasia, Platyspondyly, Poor wound healing, Premature birth, Premature birth following premature rupture of fetal membranes, Premature osteoarthritis, Protrusio acetabuli, Pulmonary arterial hypertension, Pulmonary insufficiency, Recurrent fractures, Reduced bone mineral density, Respiratory insufficiency, Scoliosis, Severe generalized osteoporosis, Short stature, Skin ulcer, Slender long bone, Small for gestational age, Soft skin, Subcutaneous nodule, Subcutaneous spheroids, Thickened skin, Thin skin, Tibial bowing, Triangular face, Umbilical hernia, Varicose veins, Wide anterior fontanel, Wormian bones
U1	ASPN	5.265444518	0	Extracellular matrix protein	BrainSpLMD|54829	OMIM|608135
U1	EGFL6	5.118184445	0	Secreted polypeptide	BrainSpLMD|25975;Eurexp|euxassay_002381|dermis, epidermis, lip	OMIM|300239
U1	COL3A1	5.11604675	0	Extracellular matrix protein	BrainSpLMD|1281;Eurexp|euxassay_004670|alimentary system, cardiovascular system, gland, integumental system, meninges, renal/urinary system, reproductive system, respiratory system;BrainSpMouseDev|12608	OMIM|120180;COSMIC||lipoblastoma;HPO|1281|Abnormality of oral frenula, Abnormality of the eyelashes, Abnormality of the urinary system, Absent earlobe, Alopecia of scalp, Aortic dissection, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Arterial dissection, Arteriovenous fistulas of celiac and mesenteric vessels, Autosomal dominant inheritance, Bladder diverticulum, Bruising susceptibility, Carious teeth, Cigarette-paper scars, Cognitive impairment, Convex nasal ridge, Cryptorchidism, Dermal translucency, Dilatation of the cerebral artery, Epicanthus, Excessive wrinkled skin, Fine hair, Flat face, Foot acroosteolysis, Fragile skin, Gastrointestinal infarctions, Glaucoma, Global developmental delay, Hemoptysis, Hyperextensible skin, Hypermobility of distal interphalangeal joints, Hypertelorism, Hypokalemia, Inguinal hernia, Intellectual disability, Internal hemorrhage, Irregular hyperpigmentation, Joint dislocation, Joint hyperflexibility, Joint hypermobility, Joint laxity, Keratoconus, Lipoatrophy, Macule, Melanocytic nevus, Micrognathia, Mitral valve prolapse, Molluscoid pseudotumors, Osteoarthritis, Osteolytic defects of the phalanges of the hand, Pectus excavatum, Periodontitis, Peripheral arteriovenous fistula, Pneumothorax, Premature birth, Premature delivery because of cervical insufficiency or membrane fragility, Premature loss of teeth, Proptosis, Protruding ear, Respiratory insufficiency, Scoliosis, Short foot, Short stature, Small hand, Soft skin, Spontaneous pneumothorax, Sprengel anomaly, Striae distensae, Talipes equinovarus, Telangiectasia of the skin, Telecanthus, Thin skin, Thin vermilion border, Uterine prolapse, Varicose veins
U1	COL1A2	5.071751774	0	Extracellular matrix protein	BrainSpLMD|1278;Eurexp|euxassay_004456|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, renal/urinary system, reproductive system, respiratory system, skeleton, tail, vertebral axis muscle system	OMIM|120160;HPO|1278|Abnormality of pelvic girdle bone morphology, Abnormality of the nervous system, Abnormality of the thorax, Absent ossification of calvaria, Aortic regurgitation, Atrophic scars, Autosomal dominant inheritance, Autosomal recessive inheritance, Basilar impression, Beaded ribs, Biconcave flattened vertebrae, Biconcave vertebral bodies, Blue sclerae, Bowing of limbs due to multiple fractures, Breech presentation, Broad long bones, Bruising susceptibility, Calcaneovalgus deformity, Congenital bilateral hip dislocation, Congestive heart failure, Convex nasal ridge, Crumpled long bones, Decreased calvarial ossification, Delayed gross motor development, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Excessive wrinkled skin, Femoral bowing present at birth, straightening with time, Frontal bossing, Gastroesophageal reflux, Generalized hypotonia, Genu recurvatum, Hearing impairment, Hernia, Hyperextensible skin, Increased susceptibility to fractures, Inguinal hernia, Joint hyperflexibility, Joint laxity, Kyphosis, Large fontanelles, Malar flattening, Micrognathia, Midface retrusion, Mild short stature, Mitral regurgitation, Mitral valve prolapse, Multiple prenatal fractures, Muscle weakness, Neonatal short-limb short stature, Nonimmune hydrops fetalis, Osteopenia, Otosclerosis, Pectus excavatum, Pes planus, Platybasia, Platyspondyly, Poor wound healing, Premature birth, Premature osteoarthritis, Protrusio acetabuli, Pulmonary arterial hypertension, Pulmonary insufficiency, Recurrent fractures, Reduced bone mineral density, Respiratory insufficiency, Scoliosis, Severe generalized osteoporosis, Short stature, Slender long bone, Small for gestational age, Soft skin, Subcutaneous hemorrhage, Thin skin, Tibial bowing, Triangular face, Wide anterior fontanel, Wormian bones
U1	COL6A3	5.025412855	0	Extracellular matrix protein	BrainSpLMD|1293	OMIM|120250;HPO|1293|Abnormality of the cardiovascular system, Abnormality of the palate, Adducted thumb, Ankle contracture, Autosomal dominant inheritance, Autosomal recessive inheritance, Cachexia, Camptodactyly of finger, Congenital muscular dystrophy, Congenital muscular torticollis, Decreased fetal movement, Diaphragmatic weakness, Distal muscle weakness, EMG abnormality, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated serum creatine phosphokinase, Esotropia, Facial palsy, Failure to thrive, Feeding difficulties in infancy, Flexion contracture, Follicular hyperkeratosis, Frequent falls, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, High palate, Hip dislocation, Hyperextensibility at wrists, Hyperhidrosis, Increased endomysial connective tissue, Increased laxity of ankles, Increased laxity of fingers, Increased variability in muscle fiber diameter, Infantile onset, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphosis, Laryngeal dystonia, Limb-girdle muscle weakness, Long toe, Micrognathia, Mildly elevated creatine phosphokinase, Motor delay, Muscle fiber necrosis, Myopathy, Neonatal hypotonia, Nocturnal hypoventilation, Oromandibular dystonia, Pes valgus, Postural tremor, Progressive, Protruding ear, Proximal muscle weakness, Recurrent lower respiratory tract infections, Respiratory failure, Respiratory insufficiency due to muscle weakness, Round face, Scoliosis, Short neck, Skeletal muscle atrophy, Slender build, Slender finger, Slow progression, Spinal rigidity, Talipes equinovarus, Torticollis, Type 1 muscle fiber predominance, Variable expressivity, Writer's cramp
U1	LUM	4.850502622	0	Extracellular matrix protein	BrainSpLMD|4060;Eurexp|euxassay_001718|bladder, clavicle, cochlea, dermis, diaphragm, fundus region, head mesenchyme, hindgut, meninges, midgut, rib, skeletal muscle, stomach, vertebral axis muscle system	OMIM|600616
U1	PDGFRL	4.794942837	0	Cell surface receptor	BrainSpLMD|5157;Eurexp|euxassay_001625|Meckel's cartilage, axial muscle, limb, palatal shelf, penis, physiological umbilical hernia, rib, tail	OMIM|604584;HPO|5157|Autosomal dominant inheritance, Hepatocellular carcinoma, Heterogeneous, Micronodular cirrhosis, Somatic mutation, Subacute progressive viral hepatitis
U1	FMOD	4.696882806	0	Extracellular matrix protein	BrainSpLMD|2331;Eurexp|euxassay_010525|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, diaphragm, femur, fibula, handplate, humerus, hyoid bone, left lung, lower jaw, mandible, meninges, mesenchyme, mesothelium, metatarsus, molar, naris, nasal septum, orbito-sphenoid, paraxial mesenchyme, pericardium, petrous part, phalanx, radius, rib, right lung, roof plate, scapula, tibia, ulna, upper jaw, valve, vault of skull	OMIM|600245
U1	C1S	4.687174558	0	Complement protein	BrainSpLMD|716;Eurexp|euxassay_003047|calyces, chondrocranium, lobe	OMIM|120580;HPO|716|Abnormality of complement system, Agenesis of permanent teeth, Atrophic scars, Atrophy of alveolar ridges, Autosomal dominant inheritance, Bruising susceptibility, Fragile skin, Gingival overgrowth, Hashimoto thyroiditis, Hepatitis, Hyperextensible skin, Hypermelanotic macule, Joint hyperflexibility, Joint hypermobility, Microdontia, Neoplasm, Periodontitis, Short stature, Systemic lupus erythematosus
U1	RUNX2	4.67338765	0	Transcription factor	BrainSpLMD|860;Eurexp|euxassay_019459|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, metatarsus, orbito-sphenoid, palatal shelf, pelvic girdle, phalanx, rib, scapula, tibia, turbinate, vault of skull, vibrissa;BrainSpMouseDev|12178	OMIM|600211;HPO|860|Abnormal facility in opposing the shoulders, Abnormality of dental enamel, Abnormality of the metacarpal bones, Abnormality of the ribs, Abnormality of the sacrum, Absent frontal sinuses, Absent paranasal sinuses, Aplastic clavicles, Autosomal dominant inheritance, Brachydactyly, Carious teeth, Cervical ribs, Chronic otitis media, Cleft palate, Cone-shaped epiphyses of the phalanges of the hand, Convex nasal ridge, Coxa vara, Decreased skull ossification, Delayed eruption of permanent teeth, Delayed eruption of primary teeth, Delayed eruption of teeth, Delayed pubic bone ossification, Depressed nasal bridge, Dimple chin, Down-sloping shoulders, Flared metaphysis, Frontal bossing, Hearing impairment, High palate, High, narrow palate, Hypertelorism, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hypoplastic frontal sinuses, Hypoplastic iliac wing, Hypoplastic inferior ilia, Hypoplastic scapulae, Increased bone mineral density, Increased number of teeth, Increased susceptibility to fractures, Kyphosis, Large fontanelles, Large foramen magnum, Long second metacarpal, Malar flattening, Mandibular prognathia, Metaphyseal dysplasia, Micrognathia, Midface retrusion, Moderately short stature, Multiple small vertebral fractures, Narrow chest, Narrow palate, Neonatal respiratory distress, Open bite, Osteoporosis, Osteoporosis of vertebrae, Parietal bossing, Persistent open anterior fontanelle, Platyspondyly, Premature loss of teeth, Recurrent respiratory infections, Scoliosis, Short 5th metacarpal, Short clavicles, Short face, Short femoral neck, Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Short philtrum, Short ribs, Short stature, Sinusitis, Skeletal dysplasia, Sloping forehead, Spina bifida occulta, Spondylolisthesis, Spondylolysis, Syringomyelia, Thickened calvaria, Thin vermilion border, Wide pubic symphysis, Wormian bones
U1	DCN	4.666998471	0	Extracellular matrix protein	BrainSpLMD|1634;BrainSpMouseDev|12959	OMIM|125255;HPO|1634|Autosomal dominant inheritance, Congenital corneal dystrophy, Increased corneal thickness, Progressive visual loss
U1	ISLR	4.625429427	0	Adhesion molecule	BrainSpLMD|3671;Eurexp|euxassay_002017|alimentary system, cavities and their linings, gland, integumental system, limb, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, vertebral axis muscle system	OMIM|602059
U1	COL5A2	4.621000348	0	Extracellular matrix protein	BrainSpLMD|1290;BrainSpMouseDev|12615	OMIM|120190;HPO|1290|Aortic dilatation, Aortic root dilatation, Atrophic scars, Autosomal dominant inheritance, Blue sclerae, Bowel diverticulosis, Bruising susceptibility, Cigarette-paper scars, Congenital diaphragmatic hernia, Ectopia lentis, Epicanthus, Femoral hernia, Fragile skin, Gastroesophageal reflux, Genu recurvatum, Hallux valgus, Hyperextensibility at elbow, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Hyperextensible skin, Infantile muscular hypotonia, Inguinal hernia, Irregularly spaced teeth, Joint dislocation, Joint hyperflexibility, Lop ear, Mitral valve prolapse, Molluscoid pseudotumors, Myopia, Narrow maxilla, Osteoarthritis, Pectus carinatum, Pectus excavatum, Pes planus, Poor wound healing, Premature birth following premature rupture of fetal membranes, Scoliosis, Short stature, Soft skin, Subcutaneous spheroids, Thin skin, Umbilical hernia, Varicose veins
U1	MGP	4.612045952	0	Extracellular matrix protein	BrainSpLMD|4256	OMIM|154870;HPO|4256|Autosomal recessive inheritance, Calcification of cartilage, Calcification of the auricular cartilage, Cartilaginous ossification of larynx, Cartilaginous ossification of nose, Cerebral calcification, Chronic sinusitis, Costal cartilage calcification, Deep philtrum, Depressed nasal bridge, Epiphyseal stippling, Global developmental delay, Growth abnormality, Hearing impairment, Intellectual disability, mild, Long face, Macrotia, Malar flattening, Midface retrusion, Nasal speech, Peripheral pulmonary artery stenosis, Premature fusion of phalangeal epiphyses, Pulmonary arterial hypertension, Pulmonary artery hypoplasia, Pulmonary artery stenosis, Pulmonic stenosis, Recurrent bronchitis, Recurrent otitis media, Recurrent sinusitis, Seizures, Short distal phalanx of finger, Short hallux, Short thumb, Sloping forehead, Spontaneous abortion, Tracheal atresia, Underdeveloped nasal alae, Ventricular septal defect, Wide nose
U1	COL12A1	4.599085726	0	Extracellular matrix protein	BrainSpLMD|1303;BrainSpMouseDev|12599	OMIM|120320;HPO|1303|Abnormality of the palate, Adducted thumb, Areflexia, Cachexia, Camptodactyly of finger, Congenital muscular dystrophy, Decreased fetal movement, Diaphragmatic weakness, EMG abnormality, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated serum creatine phosphokinase, Esotropia, Facial palsy, Flexion contracture, Frequent falls, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, High palate, Hip dislocation, Hyperextensibility at wrists, Increased endomysial connective tissue, Increased laxity of fingers, Increased variability in muscle fiber diameter, Joint hypermobility, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Long toe, Micrognathia, Motor delay, Muscle weakness, Muscular hypotonia, Myopathy, Pes valgus, Respiratory failure, Respiratory insufficiency, Scoliosis, Short neck, Slender finger, Spinal rigidity, Torticollis
U1	COL14A1	4.579192603	0	Extracellular matrix protein	BrainSpLMD|7373;Eurexp|euxassay_001452|chondrocranium, foregut-midgut junction, head mesenchyme, hindgut, limb, midgut, orbito-sphenoid, paraxial mesenchyme, pectoral girdle and thoracic body wall, stomach, turbinate, vertebral axis muscle system, vibrissa;BrainSpMouseDev|12601	OMIM|120324;HPO|7373|Breast carcinoma, Colon cancer, Hodgkin lymphoma, Neoplasm of the pancreas, Palmoplantar keratoderma, Renal cell carcinoma, Transitional cell carcinoma of the bladder
U1	BNC2	4.537540734	0	Transcription factor	BrainSpLMD|54796;Eurexp|euxassay_016203|facial VII, mantle layer	OMIM|608669
U1	PCOLCE	4.500527422	0	Extracellular matrix protein	BrainSpLMD|5118	OMIM|600270
U1	COL5A1	4.463820715	0	Extracellular matrix protein	BrainSpLMD|1289;BrainSpMouseDev|12614	OMIM|120215;HPO|1289|Abnormality of oral frenula, Abnormality of the eyelashes, Aortic dilatation, Aortic dissection, Aortic root dilatation, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Arterial dissection, Arteriovenous fistulas of celiac and mesenteric vessels, Atrophic scars, Autosomal dominant inheritance, Bladder diverticulum, Blue sclerae, Bowel diverticulosis, Bruising susceptibility, Carious teeth, Cigarette-paper scars, Cognitive impairment, Congenital diaphragmatic hernia, Cryptorchidism, Dermal translucency, Ectopia lentis, Epicanthus, Femoral hernia, Flat face, Fragile skin, Gastroesophageal reflux, Gastrointestinal infarctions, Genu recurvatum, Glaucoma, Global developmental delay, Hallux valgus, Hyperextensibility at elbow, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Hyperextensible skin, Hypertelorism, Hypokalemia, Infantile muscular hypotonia, Inguinal hernia, Internal hemorrhage, Irregularly spaced teeth, Joint dislocation, Joint hyperflexibility, Lop ear, Macule, Melanocytic nevus, Mitral valve prolapse, Molluscoid pseudotumors, Myopia, Narrow maxilla, Osteoarthritis, Pectus carinatum, Pectus excavatum, Peripheral arteriovenous fistula, Pes planus, Pneumothorax, Poor wound healing, Premature birth, Premature birth following premature rupture of fetal membranes, Proptosis, Protruding ear, Respiratory insufficiency, Scoliosis, Short stature, Soft skin, Sprengel anomaly, Subcutaneous spheroids, Talipes equinovarus, Telangiectasia of the skin, Telecanthus, Thin skin, Thin vermilion border, Umbilical hernia, Varicose veins
U1	SMOC2	4.458950154	0	Calcium binding protein	BrainSpLMD|64094;BrainSpMouseDev|40707	OMIM|607223;HPO|64094|Autosomal dominant inheritance, Autosomal recessive inheritance, Dentinogenesis imperfecta limited to primary teeth, Obliteration of the pulp chamber, Periapical bone loss
U1	OGN	4.423533136	0	Growth factor	BrainSpLMD|4969;Eurexp|euxassay_002859|4th ventricle, body-wall mesenchyme, choroid plexus, diaphragm, foregut-midgut junction, hindgut, intervertebral disc, lateral recess, lip, loop, mandible, mesenchyme, midgut, nasal septum, otic capsule, premaxilla, rectum, rib, skeletal muscle, stomach, turbinate bones, vertebral axis muscle system, vertebral cartilage condensation	OMIM|602383
U1	IGF2	4.399025708	0	Growth factor;Ligand	BrainSpLMD|3481;Eurexp|euxassay_007184|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, heart, lung, metanephros, midgut, neural retina, olfactory, respiratory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|15775	OMIM|147470;HPO|3481|Abnormality of the cardiovascular system, Abnormality of the dentition, Abnormality of the foot, Abnormality of the ureter, Accelerated skeletal maturation, Adrenocortical carcinoma, Adrenocortical cytomegaly, Asymmetry of the thorax, Autosomal dominant inheritance, Blue sclerae, Cafe-au-lait spot, Cardiomegaly, Cardiomyopathy, Clinodactyly of the 5th finger, Coarse facial features, Congenital posterior urethral valve, Craniofacial disproportion, Craniopharyngioma, Cryptorchidism, Dandy-Walker malformation, Decreased body weight, Delayed cranial suture closure, Delayed skeletal maturation, Diastasis recti, Downturned corners of mouth, Enlarged kidney, Facial asymmetry, Fasting hypoglycemia, Feeding difficulties in infancy, Frontal bossing, Generalized hypotonia, Global developmental delay, Gonadoblastoma, Growth hormone deficiency, Hemihypertrophy, Hepatoblastoma, Hepatocellular carcinoma, Hepatomegaly, Heterogeneous, Hypospadias, Intellectual disability, mild, Intrauterine growth retardation, Large fontanelles, Low-set ears, Macroglossia, Melanocytic nevus, Micrognathia, Midface retrusion, Motor delay, Neonatal hypoglycemia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Omphalocele, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Posterior helix pit, Prominent forehead, Prominent metopic ridge, Prominent occiput, Proptosis, Relative macrocephaly, Renal cortical cysts, Scoliosis, Short distal phalanx of the 5th finger, Short middle phalanx of the 5th finger, Short stature, Small for gestational age, Somatic mutation, Sporadic, Syndactyly, Testicular seminoma, Triangular face, Vesicoureteral reflux, X-linked recessive inheritance
U1	KERA	4.317748867	0	Extracellular matrix protein	BrainSpLMD|11081;Eurexp|euxassay_011025|extrinsic ocular muscle, lip, marginal layer, mesenchyme, nasal septum, palatal shelf, skeletal muscle, submandibular gland primordium	OMIM|603288;HPO|11081|Autosomal recessive inheritance, Corneal arcus, Decreased corneal thickness, Flat cornea, Hypermetropia
U1	PRRX1	4.19848254	0	Transcription regulatory protein	BrainSpLMD|5396;Eurexp|euxassay_014259|associated mesenchyme, mesenchyme, metatarsus, nasal septum, penis, pharyngo-tympanic tube;BrainSpMouseDev|18696	OMIM|167420;COSMIC||AML;HPO|5396|Abnormality of the cranial nerves, Abnormality of the eye, Absent nares, Agenesis of corpus callosum, Aglossia, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the eyebrow, Autosomal dominant inheritance, Autosomal recessive inheritance, Cleft palate, Conductive hearing impairment, Cyclopia, Downslanted palpebral fissures, Holoprosencephaly, Hypoplasia of penis, Hypoplasia of the epiglottis, Laryngeal hypoplasia, Low-set, posteriorly rotated ears, Mandibular aplasia, Microglossia, Micrognathia, Narrow internal auditory canal, Narrow mouth, Phenotypic variability, Polyhydramnios, Respiratory distress, Situs inversus totalis, Synotia, Tracheomalacia
U1	COL8A2	4.186957479	0	Extracellular matrix protein	BrainSpLMD|1296	OMIM|120252;HPO|1296|Autosomal dominant inheritance, Corneal degeneration, Corneal dystrophy, Corneal guttata, Corneal opacity, Corneal stromal edema, Descemet Membrane Folds
U1	SRPX	4.174265623	0	Unclassified	BrainSpLMD|8406;Eurexp|euxassay_003802|axial skeleton, cranium, intervertebral disc, otic capsule, turbinate, turbinate bones, vertebral cartilage condensation	OMIM|300187
U1	MFAP4	4.162479511	0	Extracellular matrix protein	BrainSpLMD|4239;BrainSpMouseDev|52134	OMIM|600596
U1	COL21A1	4.136764507	0	Extracellular matrix protein	BrainSpLMD|81578	OMIM|610002
U1	KDELR3	4.10848897	0	Transport/cargo protein	BrainSpLMD|11015;Eurexp|euxassay_006187|bladder, clavicle, mandible, maxilla, mesenchyme, midgut, naris, nasal septum, oesophagus, orbito-sphenoid, otic capsule, petrous part, rib, stomach, thyroid, turbinate bones, vault of skull	
U1	PRDM6	4.098874291	0	Transcription regulatory protein		OMIM|616982;HPO|93166|Autosomal dominant inheritance, Patent ductus arteriosus
U1	THBS2	4.089038822	0	Extracellular matrix protein	BrainSpLMD|7058	OMIM|188061
U1	SPARC	4.072562598	0	Secreted polypeptide	BrainSpLMD|6678;BrainSpMouseDev|20454	OMIM|182120;HPO|6678|Autosomal recessive inheritance, Decreased muscle mass, Delayed speech and language development, Motor delay, Muscle weakness, Muscular hypotonia, Osteoporosis, Scoliosis, Short stature, Soft skin, Thin metacarpal cortices, Vertebral compression fractures
U1	HMCN1	4.016845802	0	Extracellular matrix protein	BrainSpLMD|83872	OMIM|608548
U1	DAB2	4.000100859	0	Adapter molecule	BrainSpLMD|1601	OMIM|601236
U1	DKK2	3.991590675	0	Ligand	BrainSpLMD|27123;BrainSpMouseDev|36090	OMIM|605415
U1	TGFBI	3.989530162	0	Ligand	BrainSpLMD|7045;Eurexp|euxassay_011706|associated mesenchyme, axial skeleton, basioccipital bone, basisphenoid bone, capsule, cartilaginous ring, clavicle, femur, fibula, head mesenchyme, humerus, inner ear, left lung, metatarsus, midgut, naris, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, rectum, renal/urinary system, rib, right lung, scapula, skeletal muscle, sternum, stomach, tarsus, tibia, trigeminal V, turbinate bones, valve, vault of skull, ventricle, vibrissa	OMIM|601692;HPO|7045|Autosomal dominant inheritance, Cataract, Corneal dystrophy, Corneal erosion, Corneal scarring, Granular corneal dystrophy, Juvenile epithelial corneal dystrophy, Lattice corneal dystrophy, Map-dot-fingerprint corneal dystrophy, Nodular corneal dystrophy, Opacification of the corneal stroma, Photophobia, Progressive visual loss, Punctate corneal dystrophy, Recurrent corneal erosions, Reduced visual acuity, Strabismus, Visual impairment
U1	OLFML1	3.962892654	0	Unclassified	BrainSpLMD|283298	
U1	PRSS35	3.954138079	0	Protease	BrainSpLMD|167681	
U1	ABCA8	3.921144007	0	Membrane transport protein	BrainSpLMD|10351	OMIM|612505
U1	SRPX2	3.881197655	0	Secreted polypeptide	BrainSpLMD|27286;Eurexp|euxassay_004774|Meckel's cartilage, arm, clavicle, incisor, leg, lip, mandible, maxilla, midgut, orbito-sphenoid, peritoneal cavity, rib, stomach, tail, testis, tongue, vertebral axis muscle system	OMIM|300642;HPO|27286|Autosomal dominant inheritance, Focal seizures, Frontoparietal polymicrogyria, Intellectual disability, mild, Speech apraxia
U1	PPIC	3.851492379	0	Chaperone	BrainSpLMD|5480	OMIM|123842
U1	MMP2	3.84833049	0	Metallo protease	BrainSpLMD|4313	OMIM|120360;HPO|4313|Abnormality of the ear, Abnormality of the thorax, Ankle contracture, Ankylosis of feet small joints, Antinuclear antibody positivity, Arthralgia, Autosomal recessive inheritance, Brachycephaly, Broad metatarsal, Bulbous nose, C1-C2 subluxation, Camptodactyly of toe, Carpal osteolysis, Coarse facial features, Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Distal tapering of metatarsals, Frontal bossing, Gait disturbance, Gingival overgrowth, Hip contracture, Hirsutism, Hypermelanotic macule, Hypertelorism, Hypoplasia of the maxilla, Infantile onset, Interphalangeal joint contracture of finger, Interphalangeal joint erosions, Juvenile onset, Kyphoscoliosis, Metacarpal osteolysis, Metaphyseal widening, Metatarsal osteolysis, Micrognathia, Narrow nasal bridge, Osteolysis involving tarsal bones, Osteopenia, Osteoporosis, Peripheral opacification of the cornea, Pes cavus, Pes planus, Proptosis, Protrusio acetabuli, Sclerotic cranial sutures, Short stature, Split hand, Subcutaneous nodule, Thickened skin, Thin metacarpal cortices, Thin metatarsal cortices, Vertebral compression fractures, Widened metacarpal shaft, Wrist flexion contracture
U1	CORIN	3.814397797	0	Serine protease	BrainSpLMD|10699;Eurexp|euxassay_011008|floor plate, floorplate, lip	OMIM|605236;HPO|10699|Autosomal dominant inheritance, Eclampsia, Preeclampsia
U1	FMO1	3.804973294	0	Enzyme: Oxygenase	BrainSpLMD|2326;BrainSpMouseDev|14038	OMIM|136130
U1	FIBIN	3.79927063	0	Unclassified	BrainSpLMD|387758;Eurexp|euxassay_012586|anterior abdominal wall, axial skeleton, cervical region, cranial muscle, diaphragm, extrinsic ocular muscle, lip, lumbar region, mesenchyme, metatarsus, naris, palatal shelf, phalanx, sacral region, sternum, tarsus, thoracic region, tongue, trachea, vibrissa	OMIM|617085
U1	MME	3.762375242	0	Metallo protease	BrainSpLMD|4311	OMIM|120520;HPO|4311|Adult onset, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Distal amyotrophy, Distal sensory impairment, Dysarthria, Foot dorsiflexor weakness, Gait ataxia, Hyporeflexia, Limb ataxia, Pes cavus, Slow progression, Tremor, Unsteady gait
U1	CCDC80	3.748158218	0	Unclassified	BrainSpLMD|151887	OMIM|608298
U1	GXYLT2	3.704919334	0	Enzyme: Transferase	Eurexp|euxassay_004176|aorta, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, orbito-sphenoid, petrous part, radius, rib, skeletal muscle, tibia, ulna	OMIM|613322
U1	TBX15	3.702802895	0	Transcription factor	Eurexp|euxassay_000953|dermis, diaphragm, mesenchyme, skeleton;BrainSpMouseDev|21145	OMIM|604127;HPO|6913|2-3 toe syndactyly, 4-5 toe syndactyly, Abnormal facial shape, Abnormality of the joint spaces of the elbow, Abnormality of the pinna, Abnormality of the skull base, Absent proximal finger flexion creases, Alveolar ridge overgrowth, Ambiguous genitalia, female, Ambiguous genitalia, male, Anterior rounding of vertebral bodies, Autosomal recessive inheritance, Bell-shaped thorax, Blepharophimosis, Brachydactyly, Camptodactyly, Cleft palate, Clinodactyly of the 5th finger, Congenital hip dislocation, Deeply set eye, Dislocated radial head, Elbow flexion contracture, Facial hirsutism, Fibular aplasia, Frontal bossing, Hearing impairment, Humeroradial synostosis, Hydranencephaly, Hydrocephalus, Hydronephrosis, Hypertelorism, Hypoplastic ilia, Hypoplastic iliac wing, Hypoplastic ischia, Hypoplastic pubic bone, Hypoplastic scapulae, Joint contracture of the hand, Long clavicles, Low posterior hairline, Low-set ears, Macrocephaly, Mesomelia, Mesomelic leg shortening, Microcornea, Microglossia, Micrognathia, Microphthalmia, Microtia, first degree, Prominent protruding coccyx, Redundant neck skin, Rhizomelia, Short femur, Short neck, Short palpebral fissure, Short stature, Stenosis of the external auditory canal, Strabismus, Talipes equinovarus, Toe syndactyly, Wrist flexion contracture
U1	SGCD	3.670490621	0	Adhesion molecule	BrainSpLMD|6444;Eurexp|euxassay_009461|mandible, maxilla;BrainSpMouseDev|23803	OMIM|601411;HPO|6444|Autosomal dominant inheritance, Autosomal recessive inheritance, Calf muscle hypertrophy, Difficulty walking, Dilated cardiomyopathy, Elevated serum creatine phosphokinase, Gowers sign, Muscular dystrophy, Proximal amyotrophy, Proximal muscle weakness, Reduced systolic function, Scapular winging, Ventricular hypertrophy
U1	GLT8D2	3.645826088	0	Enzyme: Transferase	BrainSpLMD|83468	
U1	CYP1B1	3.623923573	0	Enzyme: Oxidoreductase	BrainSpLMD|1545	OMIM|601771;HPO|1545|Abnormality of Descemet's membrane, Autosomal recessive inheritance, Buphthalmos, Congenital glaucoma, Corneal neovascularization, Corneal opacity, Glaucoma, Heterogeneous, Increased intraocular pressure, Late onset congenital glaucoma, Nevus flammeus, Peters anomaly, Posterior synechiae of the anterior chamber, Primary congenital glaucoma, Retinal detachment
U1	CYBRD1	3.609097615	0	Enzyme: Oxidoreductase	BrainSpLMD|79901;Eurexp|euxassay_009953|ventricular layer	OMIM|605745
U1	OLFML3	3.597813826	0	Extracellular matrix protein	BrainSpLMD|56944;Eurexp|euxassay_000583|Meckel's cartilage, calyces, chondrocranium, foregut-midgut junction, hindgut, incisor, midgut, molar, pelvis, skeleton, stomach	OMIM|610088
U1	ASS1	3.592272912	0	Enzyme: Ligase		SFARI||Autism, 5 - Hypothesized but untested;OMIM|603470;HPO|445|Ataxia, Autosomal recessive inheritance, Cerebral edema, Cirrhosis, Coma, Episodic ammonia intoxication, Failure to thrive, Global developmental delay, Hepatomegaly, Hyperammonemia, Hyperglutaminemia, Hypoargininemia, Intellectual disability, Irritability, Lethargy, Neonatal onset, Oroticaciduria, Phenotypic variability, Protein avoidance, Respiratory alkalosis, Seizures, Vomiting
U1	FAM46A	3.585250091	0	Unclassified	BrainSpLMD|55603;Eurexp|euxassay_008026|clavicle, fibula, mandible, maxilla, orbito-sphenoid, rib, tibia	OMIM|611357
U1	DDR2	3.582313118	0	Receptor tyrosine kinase	BrainSpLMD|4921;Eurexp|euxassay_010957|mandible, maxilla, midgut, oesophagus, stomach;BrainSpMouseDev|17981	OMIM|191311;COSMIC||squamous cell carcinoma, NSCLC, Spondylometaepiphyseal dysplasia, short limb-hand type;HPO|4921|Abnormal calcification of the carpal bones, Abnormality of the neck, Anterior rib cupping, Atlantoaxial instability, Autosomal recessive inheritance, Bell-shaped thorax, Bowing of the legs, Broad metacarpals, Broad phalanx, C1-C2 subluxation, Calcification of falx cerebri, Depressed nasal bridge, Disproportionate short-limb short stature, Elbow flexion contracture, Epiphyseal stippling, Flared iliac wings, Flared metaphysis, Frontal bossing, Generalized hypotonia, Global developmental delay, High palate, Hip subluxation, Hypertelorism, Hypoplasia of the odontoid process, Knee flexion contracture, Long fibula, Malar flattening, Metatarsus adductus, Micrognathia, Micromelia, Midface retrusion, Muscular hypotonia, Pectus excavatum, Platyspondyly, Posterior rib cupping, Progressive calcification of costochondral cartilage, Proptosis, Recurrent pneumonia, Restrictive ventilatory defect, Scoliosis, Short long bone, Short metacarpal, Short nose, Short phalanx of finger, Short ribs, Spinal cord compression, Spondyloepimetaphyseal dysplasia, Syringomyelia, Thoracic hypoplasia, Tracheal calcification, Triangular shaped distal phalanges of the hand
U1	EMP1	3.576174869	0	Cell cycle control protein	BrainSpLMD|2012	OMIM|602333
U1	H19	3.575690044	0			OMIM|103280;HPO|283120|Abdominal pain, Abnormality of the cardiovascular system, Abnormality of the dentition, Abnormality of the foot, Abnormality of the ureter, Accelerated skeletal maturation, Adrenocortical carcinoma, Adrenocortical cytomegaly, Asymmetry of the thorax, Autosomal dominant inheritance, Blue sclerae, Cafe-au-lait spot, Cardiomegaly, Cardiomyopathy, Clinodactyly of the 5th finger, Coarse facial features, Congenital posterior urethral valve, Craniofacial disproportion, Craniopharyngioma, Cryptorchidism, Dandy-Walker malformation, Delayed cranial suture closure, Delayed skeletal maturation, Diastasis recti, Downturned corners of mouth, Enlarged kidney, Facial asymmetry, Fasting hypoglycemia, Frontal bossing, Global developmental delay, Gonadoblastoma, Growth hormone deficiency, Hemihypertrophy, Hepatoblastoma, Hepatocellular carcinoma, Hepatomegaly, Heterogeneous, Hypospadias, Intellectual disability, mild, Intrauterine growth retardation, Large fontanelles, Macroglossia, Micrognathia, Midface retrusion, Neonatal hypoglycemia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Omphalocele, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Posterior helix pit, Prominent metopic ridge, Prominent occiput, Proptosis, Renal cortical cysts, Scoliosis, Short distal phalanx of the 5th finger, Short middle phalanx of the 5th finger, Small for gestational age, Somatic mutation, Sporadic, Syndactyly, Testicular seminoma, Triangular face, Vesicoureteral reflux
U1	GDF10	3.574028334	0	Growth factor	BrainSpLMD|2662;Eurexp|euxassay_002299|axial skeleton, body-wall mesenchyme, cranium, diaphragm, dorsal grey horn, epidermis, femur, head mesenchyme, hip, humerus, lip, lower leg, marginal layer, mesenchyme, metatarsus, nasal septum, otic capsule, rib, tongue, trachea, turbinate bones, upper leg, ventricular layer;BrainSpMouseDev|14336	OMIM|601361
U1	SFRP2	3.565000322	0	Secreted polypeptide	BrainSpLMD|6423;BrainSpMouseDev|20082	OMIM|604157
U1	BICC1	3.564497614	0	RNA binding protein	BrainSpLMD|80114	OMIM|614295
U1	ANXA1	3.56183053	0	Calcium binding protein	BrainSpLMD|301;Eurexp|euxassay_004813|clavicle, epidermis, fundus region, left lung, mandible, oesophagus, oral epithelium, rib, right lung, stomach, submandibular gland primordium, thyroid, trachea, urethra, ventricular layer, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|151690
U1	FBLN2	3.559124188	0	Extracellular matrix protein	BrainSpLMD|2199;Eurexp|euxassay_011955|axial skeleton, basioccipital bone, basisphenoid bone, diaphragm, footplate, handplate, mantle layer, meninges, mesenchyme, mesentery, mesothelium, midgut, naris, nasal septum, orbito-sphenoid, otic capsule, petrous part, phalanx, rib, turbinate bones, urogenital mesentery, valve, vault of skull	OMIM|135821;COSMIC||breast cancer, colorectal adenocarcinoma
U1	AHNAK	3.557631661	0	Unclassified	BrainSpLMD|79026	OMIM|103390
U1	ADAMTS2	3.536946004	0	Metallo protease	BrainSpLMD|9509	OMIM|604539;HPO|9509|Abnormality of primary molar morphology, Abnormality of subcutaneous fat tissue, Aphasia, Autosomal recessive inheritance, Avascular necrosis of the capital femoral epiphysis, Blepharochalasis, Blue sclerae, Bruising susceptibility, Coxa valga, Coxa vara, Delayed closure of the anterior fontanelle, Depressed nasal bridge, Downslanted palpebral fissures, Dysphasia, Echolalia, Epicanthus, Esophagitis, Everted lower lip vermilion, Excessive wrinkled skin, Femoral hernia, Fragile skin, Frontal open bite, Gastroesophageal reflux, Gingival bleeding, Gingival hyperkeratosis, Gingival overgrowth, Hiatus hernia, Hip dislocation, Hip dysplasia, Hirsutism, Hyperextensible skin, Hypodontia, Inguinal hernia, Joint hyperflexibility, Joint laxity, Joint stiffness, Micrognathia, Micromelia, Motor delay, Muscular hypotonia, Mutism, Myopia, Osteomalacia, Osteopenia, Osteoporosis, Premature birth, Premature rupture of membranes, Prolonged bleeding time, Recurrent mandibular subluxations, Redundant skin, Retrognathia, Rickets, Scarring, Scoliosis, Severe short stature, Short phalanx of finger, Short stature, Short toe, Soft, doughy skin, Spontaneous neonatal pneumothorax, Thick vermilion border, Thin skin, Umbilical hernia, Wide anterior fontanel
U1	CTSK	3.526312864	0	Cysteine protease	BrainSpLMD|1513	OMIM|601105;HPO|1513|Abnormal pelvis bone ossification, Abnormal vertebral morphology, Abnormality of dental morphology, Abnormality of epiphysis morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the fingernails, Abnormality of the thorax, Absent frontal sinuses, Autosomal recessive inheritance, Blue sclerae, Bone pain, Brachycephaly, Brachydactyly, Carious teeth, Delayed eruption of permanent teeth, Delayed eruption of primary teeth, Delayed eruption of teeth, Frontal bossing, High forehead, Hypodontia, Increased bone mineral density, Malar flattening, Micrognathia, Midface retrusion, Narrow palate, Osteolysis, Osteolytic defects of the distal phalanges of the hand, Persistence of primary teeth, Persistent open anterior fontanelle, Prominent nose, Prominent occiput, Proptosis, Recurrent fractures, Ridged nail, Scoliosis, Short distal phalanx of finger, Short stature, Short toe, Skeletal dysplasia, Spondylolisthesis, Spondylolysis, Wormian bones
U1	SEMA3D	3.514304755	0	Integral membrane protein	BrainSpLMD|223117;Eurexp|euxassay_013219|clavicle, cornea, diaphragm, ductus deferens, ear, incisor, mandible, maxilla, mesenchyme, naris, nasal septum, oesophagus, pericardial cavity, peritoneal cavity, pleural cavity, submandibular gland primordium, thyroid, trachea, urethra;BrainSpMouseDev|72311	OMIM|609907;HPO|223117|Abdominal pain, Aganglionic megacolon, Constipation, Intestinal obstruction, Nausea and vomiting, Weight loss
U1	COL24A1	3.479631642	0	Extracellular matrix protein	BrainSpLMD|255631;Eurexp|euxassay_016385|clavicle, femur, humerus, mandible, maxilla, orbito-sphenoid, rib, scapula;BrainSpMouseDev|47196	OMIM|610025
U1	NID2	3.479534859	0	Extracellular matrix protein	BrainSpLMD|22795	OMIM|605399
U1	S100A4	3.476071205	0	Calcium binding protein	Eurexp|euxassay_007749|choroid invagination, choroid plexus, mesenchyme, roof plate, thymus primordium	OMIM|114210
U1	GPC3	3.453160142	0	Integral membrane protein	BrainSpLMD|2719;Eurexp|euxassay_001524|cardiovascular system, choroid plexus, gland, integumental system, lateral recess, skeleton, tail, visceral organ;BrainSpMouseDev|14510	OMIM|300037;COSMIC||Wilms tumour;HPO|2719|2-3 finger syndactyly, Abdominal pain, Abnormal lung lobation, Abnormality of the helix, Abnormality of the ribs, Accelerated skeletal maturation, Agenesis of corpus callosum, Anteverted nares, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Birth length greater than 97th percentile, Broad foot, Broad palm, Broad secondary alveolar ridge, Broad thumb, Broad toe, Bundle branch block, Camptodactyly of finger, Cardiomyopathy, Cerebellar vermis hypoplasia, Cervical ribs, Cleft palate, Clinodactyly of the 5th finger, Coarse facial features, Congenital diaphragmatic hernia, Cryptorchidism, Death in infancy, Dental malocclusion, Depressed nasal bridge, Diastasis recti, Downslanted palpebral fissures, Duplication of renal pelvis, Enlarged kidney, Epicanthus, Finger syndactyly, Flared iliac wings, Generalized hypotonia, Hearing impairment, Hepatomegaly, Heterogeneous, High, narrow palate, Hydrocephalus, Hydronephrosis, Hydroureter, Hypertelorism, Hypoglycemia, Hypospadias, Increased IgE level, Inguinal hernia, Intestinal malrotation, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Mandibular prognathia, Meckel diverticulum, Multicystic kidney dysplasia, Nail dysplasia, Narrow sacroiliac notch, Nephroblastoma, Neurological speech impairment, Omphalocele, Pancreatic islet-cell hyperplasia, Patent ductus arteriosus, Pectus excavatum, Polyhydramnios, Polysplenia, Postaxial hand polydactyly, Posterior helix pit, Preauricular pit, Preauricular skin tag, Prolonged QT interval, Pulmonic stenosis, Renal cyst, Scoliosis, Short 2nd finger, Short distal phalanx of finger, Short foot, Short neck, Short nose, Short palm, Short sacroiliac notch, Short toe, Six lumbar vertebrae, Small nail, Somatic mutation, Splenomegaly, Submucous cleft lip, Supernumerary nipple, Talipes equinovarus, Tall stature, Toe syndactyly, Transposition of the great arteries, Two carpal ossification centers present at birth, Umbilical hernia, Ureteral duplication, Ventricular septal defect, Vertebral fusion, Vertebral segmentation defect, Webbed neck, Wide mouth, Wide nasal bridge, X-linked recessive inheritance
U1	EYA4	3.448048777	0	Transcription regulatory protein	BrainSpLMD|2070;BrainSpMouseDev|13828	OMIM|603550;HPO|2070|Abnormal cardiac ventricular function, Autosomal dominant inheritance, Congestive heart failure, Dilated cardiomyopathy, Hearing impairment, Recurrent infections of the middle ear, Sensorineural hearing impairment, Sudden cardiac death
U1	HBG2	3.445761502	0	Transport/cargo protein		OMIM|142250;HPO|3048|Abnormal bone structure, Anemia, Autosomal dominant inheritance, Congenital onset, Cyanosis, Hepatomegaly, Methemoglobinemia, Pallor, Persistence of hemoglobin F, Splenomegaly
U1	SSPN	3.440438168	0	Integral membrane protein	BrainSpLMD|8082	OMIM|601599
U1	ACAN	3.439768698	0	Extracellular matrix protein	BrainSpLMD|176;Eurexp|euxassay_000376|axial skeleton, cranium, nasal capsule, pectoral girdle and thoracic body wall	OMIM|155760;HPO|176|Abnormality of epiphysis morphology, Abnormality of the nail, Absent nasal bridge, Autosomal dominant inheritance, Autosomal recessive inheritance, Barrel-shaped chest, Brachydactyly, Broad thumb, Delayed skeletal maturation, Developmental stagnation, Exostoses, Flat capital femoral epiphysis, Functional respiratory abnormality, Genu valgum, Genu varum, Growth abnormality, Hoarse voice, Joint laxity, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Mandibular prognathia, Mesomelia, Micromelia, Midface retrusion, Osteoarthritis, Osteochondritis Dissecans, Platyspondyly, Proportionate short stature, Relative macrocephaly, Rhizomelia, Short neck, Short stature, Short thorax, Short thumb, Spondyloepimetaphyseal dysplasia, Spondyloepiphyseal dysplasia, Waddling gait
U1	P4HA2	3.437548705	0	Enzyme: Hydroxylase	BrainSpLMD|8974;Eurexp|euxassay_003346|Meckel's cartilage, axial skeleton, clavicle, molar, orbito-sphenoid, pectoral girdle and thoracic body wall, rib, turbinate	SFARI||Autism, 3 - Suggestive evidence;OMIM|600608;HPO|8974|Autosomal dominant inheritance, Severe Myopia
U1	SLC6A4	3.434304474	0	Transport/cargo protein	BrainSpLMD|6532;Eurexp|euxassay_019733|lobe, mantle layer;BrainSpMouseDev|15342	SFARI||Autism, 4 - Minimal evidence;OMIM|182138
U1	ADAMTS1	3.422386901	0	Metallo protease	BrainSpLMD|9510;Eurexp|euxassay_004197|clavicle, cranium, mandible, maxilla, rib	OMIM|605174
U1	RP11.38H17.1	3.405254834	0			
U1	S100A10	3.391380275	0	Calcium binding protein	BrainSpLMD|6281;Eurexp|euxassay_018301|bladder, cranium, diaphragm, dorsal root ganglion, epidermis, facial VII, glossopharyngeal IX, incisor, lip, mandible, mantle layer, meninges, metanephros, midgut, molar, neural retina, oesophagus, palatal shelf, pectoral girdle and thoracic body wall, rib, roof plate, stomach, submandibular gland primordium, thymus primordium, trigeminal V, turbinate bones, vagus X, ventral grey horn, vertebral axis muscle system, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|19957	OMIM|114085
U1	PROS1	3.381371747	0	Coagulation factor	BrainSpLMD|5627;Eurexp|euxassay_009526|frenulum, incisor, liver, molar;BrainSpMouseDev|18891	OMIM|176880;HPO|5627|Arterial thrombosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cerebral hemorrhage, Cerebral venous thrombosis, Deep venous thrombosis, Disseminated intravascular coagulation, Hypercoagulability, Pulmonary embolism, Purpura, Reduced protein S activity, Retinopathy, Superficial thrombophlebitis, Thin skin, Thrombophlebitis, Warfarin-induced skin necrosis
U1	FBN1	3.370611142	0	Extracellular matrix protein	BrainSpLMD|2200	SFARI||Autism, 3 - Suggestive evidence;OMIM|134797;HPO|2200|Abnormal cardiac ventricle morphology, Abnormal echocardiogram, Abnormality of dental morphology, Abnormality of the eyebrow, Abnormality of the iris, Abnormality of the sternum, Adducted thumb, Anteverted nares, Aortic dilatation, Aortic dissection, Aortic regurgitation, Aortic root dilatation, Aortic valve stenosis, Arachnodactyly, Ascending aortic dilation, Ascending aortic dissection, Autosomal dominant inheritance, Blindness, Blue sclerae, Brachycephaly, Brachydactyly, Broad metacarpals, Broad metatarsal, Broad palm, Broad phalanges of the hand, Broad ribs, Broad skull, Bruising susceptibility, Bulbous nose, Cardiomegaly, Cataract, Chest pain, Cognitive impairment, Cone-shaped epiphysis, Congestive heart failure, Coronary artery disease, Craniosynostosis, Crumpled ear, Cutis laxa, Cutis marmorata, Cystic medial necrosis of the aorta, Decreased muscle mass, Decreased nerve conduction velocity, Decreased testicular size, Deep philtrum, Deeply set eye, Delayed skeletal maturation, Dental crowding, Depressed nasal bridge, Descending aortic dissection, Dilatation of ascending aorta, Disproportionate tall stature, Dolichocephaly, Downslanted palpebral fissures, Dural ectasia, Ectopia lentis, Emphysema, Enlarged thorax, Exertional dyspnea, Feeding difficulties, Fifth metacarpal with ulnar notch, Flexion contracture, Full cheeks, Genu recurvatum, Glaucoma, Hammertoe, Heart murmur, Hepatomegaly, High palate, High, narrow palate, Hoarse voice, Hyperextensibility of the finger joints, Hypertelorism, Hypertension, Hypoplasia of the iris, Hypoplasia of the maxilla, Hyporeflexia, Hypoxemia, Incisional hernia, Increased arm span, Increased axial globe length, Intellectual disability, mild, Intrauterine growth retardation, Iridodonesis, Joint hypermobility, Joint stiffness, Kyphoscoliosis, Lack of skin elasticity, Left ventricular failure, Limitation of joint mobility, Lipoatrophy, Long eyelashes, Long face, Long philtrum, Long toe, Low-set ears, Lumbar hyperlordosis, Macrocephaly, Malar flattening, Mandibular prognathia, Medial rotation of the medial malleolus, Megalocornea, Micrognathia, Microspherophakia, Misalignment of teeth, Mitral annular calcification, Mitral regurgitation, Mitral stenosis, Mitral valve prolapse, Motor delay, Muscular hypotonia, Myopia, Narrow face, Narrow mouth, Narrow nose, Narrow palate, Neonatal respiratory distress, Oligohydramnios, Ovoid vertebral bodies, Paroxysmal dyspnea, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pes cavus, Pes planus, Pes valgus, Pneumothorax, Premature birth, Premature osteoarthritis, Prominent forehead, Prominent nasal bridge, Proportionate short stature, Proptosis, Protrusio acetabuli, Pulmonary arterial hypertension, Pulmonary artery dilatation, Pulmonic stenosis, Reduced subcutaneous adipose tissue, Respiratory insufficiency, Retinal detachment, Retrognathia, Round face, Scaphocephaly, Scoliosis, Severe Myopia, Severe short stature, Shallow anterior chamber, Shallow orbits, Short foot, Short long bone, Short metacarpal, Short nose, Short palm, Short phalanx of finger, Short stature, Short thumb, Small for gestational age, Small hand, Smooth philtrum, Spinal canal stenosis, Spondylolisthesis, Stiff skin, Striae distensae, Talipes calcaneovarus, Tall stature, Thick lower lip vermilion, Thickened skin, Thin bony cortex, Thin upper lip vermilion, Toe walking, Tricuspid regurgitation, Tricuspid valve prolapse, Ventricular septal defect, Wide nasal bridge
U1	COL16A1	3.36920737	0	Extracellular matrix protein	BrainSpLMD|1307;Eurexp|euxassay_004359|trunk mesenchyme;BrainSpMouseDev|71746	OMIM|120326
U1	FGFBP2	3.355112942	0	Secreted polypeptide	BrainSpLMD|83888	OMIM|607713
U1	ALCAM	3.350786142	0	Adhesion molecule	BrainSpLMD|214;Eurexp|euxassay_003463|bladder, dorsal root ganglion, epithelium, extrinsic ocular muscle, lung, mantle layer, mesenchyme, nucleus pulposus, saccule, stomach, submandibular gland primordium, trachea, urethra, ventricular layer, vibrissa;BrainSpMouseDev|11445	OMIM|601662
U1	CYTL1	3.331677276	0	Cytokine	BrainSpLMD|54360;Eurexp|euxassay_008467|Meckel's cartilage, aorta, arytenoid, axial skeleton, basioccipital bone, basisphenoid bone, carpus, cartilaginous ring, clavicle, cricoid, femur, fibula, humerus, hyoid bone, metacarpus, metatarsus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, rib, scapula, thyroid, tibia, turbinate bones	OMIM|607930
U1	AC133106.2	3.330539207	0			
U1	CFH	3.328406041	0	Regulatory/other subunit	BrainSpLMD|3075;Eurexp|euxassay_008425|bladder, clavicle, cortex, femur, fibula, humerus, mandible, mantle layer, maxilla, medulla, medullary stroma, meninges, mesenchyme, orbito-sphenoid, rib, scapula, thymus primordium, tibia, trabeculae carneae	OMIM|134370;HPO|3075|Autosomal dominant inheritance, Autosomal recessive inheritance, Chronic kidney disease, Decreased serum complement factor H, Depletion of components of the alternative complement pathway, Glomerular subendothelial electron-dense deposits, Hematuria, Juvenile onset, Phenotypic variability, Progressive visual loss, Recurrent bacterial infections, Thickening of the glomerular basement membrane
U1	GAS2	3.323541491	0	Cytoskeletal associated protein	BrainSpLMD|2620;Eurexp|euxassay_000440|genital tubercle, skeleton, tongue	SFARI||Autism, 4 - Minimal evidence;OMIM|602835
U1	AQP1	3.318164527	0	Water channel	BrainSpLMD|358;Eurexp|euxassay_002187|Meckel's cartilage, axial skeleton, choroid plexus, clavicle, ductus deferens, exoccipital bone, humerus, lip, lobe, mandible, mesenchyme, nasal septum, orbito-sphenoid, pelvic girdle, phalanx, rib, thyroid, tongue, turbinate, valve, vault of skull, vibrissa	OMIM|107776
U1	GHR	3.307388389	0	Cell surface receptor	BrainSpLMD|2690	OMIM|600946;HPO|2690|Abnormal facial shape, Abnormal joint morphology, Abnormality of metabolism/homeostasis, Abnormality of the elbow, Aplasia/Hypoplasia involving the nose, Autosomal recessive inheritance, Brachydactyly, Decreased serum insulin-like growth factor 1, Delayed eruption of teeth, Delayed menarche, Delayed puberty, Delayed skeletal maturation, High forehead, High pitched voice, Hypoglycemia, Hypoplasia of penis, Hypoplastic nasal bridge, Microdontia, Micrognathia, Motor delay, Reduced number of teeth, Severe short stature, Short long bone, Short stature, Short toe, Small face, Truncal obesity, Underdeveloped supraorbital ridges
U1	MSX2	3.302149487	0	Transcription factor	BrainSpLMD|4488;Eurexp|euxassay_019605|adrenal gland, incisor, molar, penis, vibrissa;BrainSpMouseDev|17469	OMIM|123101;HPO|4488|Aplasia cutis congenita of scalp, Autosomal dominant inheritance, Bicoronal synostosis, Brachyturricephaly, Cleft palate, Cleft upper lip, Dermoid cyst, Encephalocele, Frontal bossing, Headache, Heterogeneous, Macrocephaly, Microtia, Parietal foramina, Seizures, Short clavicles, Symmetrical, oval parietal bone defects, Trigonocephaly, Unicoronal synostosis, Widely patent fontanelles and sutures
U1	LOX	3.26616886	0	Enzyme: Oxidase	BrainSpLMD|4015	OMIM|153455;HPO|4015|Abnormality of the iris, Aortic regurgitation, Ascending aortic dissection, Autosomal dominant inheritance, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Exertional dyspnea, Hypertension, Left ventricular failure, Paroxysmal dyspnea
U1	GPX8	3.253863853	0	Unclassified	BrainSpLMD|493869;Eurexp|euxassay_003757|alimentary system, brain, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, spinal cord, tail	OMIM|617172
U1	SOSTDC1	3.249311294	0	Unclassified	BrainSpLMD|25928;Eurexp|euxassay_001643|bladder, calyces, cervico-thoracic, choroid plexus, dorsal root ganglion, epidermis, facial VII, glossopharyngeal IX, head mesenchyme, incisor, lateral recess, lip, mesenchyme, nucleus pulposus, oesophagus, olfactory, oral epithelium, pelvis, penis, pharyngo-tympanic tube, submandibular gland primordium, testis, thoracic, tongue, trachea, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|41885	OMIM|609675
U1	MYOF	3.23753761	0	Integral membrane protein	BrainSpLMD|26509	OMIM|604603
U1	MKX	3.221019723	0	Transcription factor	BrainSpLMD|283078;BrainSpMouseDev|84230	OMIM|601332
U1	SLIT3	3.219489431	0	Ligand	BrainSpLMD|6586;BrainSpMouseDev|20326	SFARI||Autism, No category;OMIM|603745
U1	IL11RA	3.196459858	0	Cytokine receptor	BrainSpLMD|3590;Eurexp|euxassay_004461|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, liver and biliary system, nervous system, renal/urinary system, reproductive system, respiratory system, skeleton, tail, vertebral axis muscle system, visceral organ	OMIM|600939;HPO|3590|Autosomal recessive inheritance, Coronal craniosynostosis, Delayed eruption of teeth, Hypoplasia of the maxilla, Papilledema, Sagittal craniosynostosis
U1	CRISPLD2	3.191382471	0	Unclassified	BrainSpLMD|83716;Eurexp|euxassay_006369|bladder, midgut, oesophagus, rectum, stomach, submandibular gland primordium	OMIM|612434
U1	LGALS1	3.188157815	0	Ligand	BrainSpLMD|3956;Eurexp|euxassay_004032|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|16623	OMIM|150570
U1	PRELP	3.18429468	0	Anchor protein	BrainSpLMD|5549	OMIM|601914
U1	FBN2	3.169863962	0	Structural protein	BrainSpLMD|2201;Eurexp|euxassay_008110|lung, mesenchyme	OMIM|612570;HPO|2201|Abnormally folded helix, Adducted thumb, Aortic root dilatation, Arachnodactyly, Arthrogryposis multiplex congenita, Atrial septal defect, Autosomal dominant inheritance, Bicuspid aortic valve, Brachycephaly, Calf muscle hypoplasia, Camptodactyly of finger, Congenital kyphoscoliosis, Crumpled ear, Disproportionate tall stature, Distal arthrogryposis, Ectopia lentis, Frontal bossing, High palate, Joint stiffness, Macular degeneration, Metatarsus adductus, Mitral regurgitation, Mitral valve prolapse, Motor delay, Myopia, Osteopenia, Patellar dislocation, Patellar subluxation, Patent ductus arteriosus, Pectus carinatum, Reduced visual acuity, Scaphocephaly, Short neck, Slender build, Ulnar deviation of finger, Ventricular septal defect, Visual impairment
U1	RBMS1	3.162666263	0	DNA binding protein	BrainSpLMD|5937	OMIM|602310
U1	TIMP1	3.149259823	0	Extracellular matrix protein	BrainSpLMD|7076;Eurexp|euxassay_000782|Meckel's cartilage, axial skeleton, chondrocranium, molar	OMIM|305370
U1	MXRA5	3.140256333	0	Unclassified	BrainSpLMD|25878	OMIM|300938
U1	SNHG18	3.104910531	0			
U1	NR3C1	3.095947455	0	Nuclear receptor;Transcription factor	BrainSpLMD|2908;BrainSpMouseDev|14591	OMIM|138040;HPO|2908|Abnormal serum testosterone level, Acne, Adrenal hyperplasia, Autosomal dominant inheritance, Decreased circulating aldosterone level, Fatigue, Hirsutism, Hypertension, Hypoglycemia, Hypokalemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased urinary cortisol level, Metabolic alkalosis, Oligomenorrhea
U1	PTRF	3.091678806	0			
U1	FBLN5	3.053792414	0	Extracellular matrix protein	BrainSpLMD|10516;Eurexp|euxassay_002515|aorta, body-wall mesenchyme, cervical region, clavicle, cranium, diaphragm, head mesenchyme, leg, lip, lumbar region, mandible, maxilla, mesenchyme, oesophagus, premaxilla, rib, sacral region, thoracic region, tongue, vibrissa	OMIM|604580;HPO|10516|Abnormality of the face, Aortic aneurysm, Arachnodactyly, Arterial fibromuscular dysplasia, Arterial stenosis, Atelectasis, Autosomal dominant inheritance, Autosomal recessive inheritance, Bladder diverticulum, Bowel diverticulosis, Choroidal neovascularization, Congenital diaphragmatic hernia, Cutis laxa, Delayed cranial suture closure, Dilatation of ascending aorta, Distal sensory impairment, Drusen, Emphysema, Full cheeks, Heterogeneous, Hypertelorism, Ileus, Inguinal hernia, Joint hyperflexibility, Joint laxity, Microcephaly, Mitral regurgitation, Oligohydramnios, Overgrowth, Pectus excavatum, Pes cavus, Premature skin wrinkling, Ptosis, Recurrent respiratory infections, Recurrent urinary tract infections, Redundant skin, Renal diverticulum, Scoliosis, Supravalvular aortic stenosis, Umbilical hernia, Vascular tortuosity
U1	SLC7A2	3.051850158	0	Membrane transport protein	BrainSpLMD|6542;Eurexp|euxassay_019684|adrenal gland, lens, mandible, maxilla, ovary, trachea, turbinate bones	OMIM|601872
U1	ELN	3.051515688	0	Extracellular matrix protein	BrainSpLMD|2006;Eurexp|euxassay_004329|aorta, exoccipital bone, extrinsic ocular muscle, femur, fibula, humerus, lip, lung, mandible, maxillary division, mesenchyme, nasal septum, orbito-sphenoid, palatal shelf, pelvic girdle, physiological umbilical hernia, rest of mesencyme, rib, scapula, skeletal muscle, tibia, trachea, turbinate bones, valve, vault of skull, ventricular layer, vibrissa	OMIM|130160;COSMIC||B-ALL, Supravalvular Aortic Stenosis, Cutis laxa, Williams-Beuren Syndrome;HPO|2006|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the face, Abnormality of the fingernails, Abnormality of the iris, Abnormality of the neck, Anxiety, Aortic regurgitation, Arrhythmia, Arthralgia, Ascending aortic dissection, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bicuspid aortic valve, Bladder diverticulum, Blepharophimosis, Blue irides, Bowel diverticulosis, Broad forehead, Broad nasal tip, Cardiomegaly, Cerebral ischemia, Chest pain, Chronic constipation, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Coronary artery disease, Coronary artery stenosis, Cutis laxa, Cutis marmorata, Cystic medial necrosis of the aorta, Dental malocclusion, Depressed nasal bridge, Depressivity, Descending aortic dissection, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Emphysema, Enuresis, Epicanthus, Everted lower lip vermilion, Exertional dyspnea, Failure to thrive in infancy, Feeding difficulties in infancy, Flexion contracture, Full cheeks, Gait imbalance, Gastroesophageal reflux, Generalized hypotonia, Genu valgum, Glucose intolerance, Hallux valgus, Heterogeneous, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypertelorism, Hypertension, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Impaired visuospatial constructive cognition, Incoordination, Inguinal hernia, Insomnia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Joint stiffness, Kyphoscoliosis, Kyphosis, Large earlobe, Left ventricular failure, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Medial flaring of the eyebrow, Microcephaly, Microdontia, Micrognathia, Midface retrusion, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Narrow forehead, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Obsessive-compulsive trait, Open bite, Open mouth, Osteopenia, Osteoporosis, Overfriendliness, Paroxysmal dyspnea, Pelvic kidney, Periorbital edema, Periorbital fullness, Peripheral arterial stenosis, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Poor coordination, Premature graying of hair, Premature skin wrinkling, Prematurely aged appearance, Proteinuria, Protruding ear, Pulmonary artery stenosis, Pulmonic stenosis, Rectal prolapse, Recurrent otitis media, Recurrent urinary tract infections, Redundant skin, Renal hypoplasia, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Small nail, Soft skin, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Urethral stenosis, Vesicoureteral reflux, Visual impairment, Wide mouth, Wide nasal bridge
U1	TGFBR3	3.049233667	0	Cell surface receptor	BrainSpLMD|7049;Eurexp|euxassay_015312|atrium, brachial plexus, calyces, choroid invagination, choroid plexus, meninges, mesenchyme, ventricle;BrainSpMouseDev|21573	OMIM|600742
U1	FRZB	3.038028338	0	Integral membrane protein	BrainSpLMD|2487;Eurexp|euxassay_018108|Meckel's cartilage, adrenal gland, aorta, chondrocranium, clavicle, cortex, dorsal grey horn, epithelium, incisor, intermediate grey horn, mandible, marginal layer, maxilla, mitral valve, molar, orbito-sphenoid, penis, petrous part, rib, spleen primordium, sternum, testis, tricuspid valve, ventricular layer;BrainSpMouseDev|20141	OMIM|605083
U1	RRBP1	3.033996645	0	Integral membrane protein	BrainSpLMD|6238	OMIM|601418
U1	SERPINF1	3.030717563	0	Serine protease	BrainSpLMD|5176;Eurexp|euxassay_018445|cardiovascular system, gland, integumental system, limb, liver and biliary system, meninges, mesenchyme, reproductive system, skeleton, tail, vertebral axis muscle system, visceral organ	OMIM|172860;HPO|5176|Autosomal recessive inheritance, Beaking of vertebral bodies, Biconcave vertebral bodies, Coxa vara, Increased susceptibility to fractures, Joint laxity, Protrusio acetabuli, Vertebral compression fractures
U1	THSD4	3.009094385	0	Unclassified	BrainSpLMD|79875;Eurexp|euxassay_007983|cricoid, lip, metatarsus, rib, skeleton, tongue	OMIM|614476
U1	FAM114A1	3.003909571	0	Unclassified	BrainSpLMD|92689;Eurexp|euxassay_002429|Meckel's cartilage, cranium	
U1	SEC24D	2.998786385	0	Transport/cargo protein	BrainSpLMD|9871;Eurexp|euxassay_010979|marginal layer	OMIM|607186;HPO|9871|Abnormal form of the vertebral bodies, Abnormality of dental enamel, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the voice, Autosomal recessive inheritance, Blue sclerae, Bowing of the long bones, Communicating hydrocephalus, Coronal craniosynostosis, Crumpled long bones, Delayed eruption of teeth, Downslanted palpebral fissures, Frontal bossing, High palate, High pitched voice, Hydrocephalus, Hypertelorism, Intrauterine growth retardation, Kyphosis, Lambdoidal craniosynostosis, Macrocephaly, Micrognathia, Microretrognathia, Midface retrusion, Muscular hypotonia, Oligohydramnios, Osteopenia, Pectus excavatum, Platyspondyly, Postnatal growth retardation, Proptosis, Recurrent fractures, Scoliosis, Short stature, Skeletal dysplasia, Thin ribs, Triangular face, Turricephaly, Wormian bones
U1	EFEMP2	2.996866377	0	Extracellular matrix protein	BrainSpLMD|30008	OMIM|604633;HPO|30008|Abnormality of the pinna, Aortic aneurysm, Aortic dilatation, Arachnodactyly, Arterial fibromuscular dysplasia, Arterial stenosis, Arterial tortuosity, Atelectasis, Autosomal recessive inheritance, Bladder diverticulum, Bulbous nose, Congenital diaphragmatic hernia, Cutis laxa, Delayed cranial suture closure, Downslanted palpebral fissures, Emphysema, Full cheeks, Generalized arterial tortuosity, Generalized hypotonia, High palate, Hypertelorism, Ileus, Inguinal hernia, Joint hyperflexibility, Joint hypermobility, Low-set ears, Microcephaly, Micrognathia, Narrow palpebral fissure, Pectus excavatum, Premature skin wrinkling, Prominence of the premaxilla, Prominent forehead, Proptosis, Ptosis, Pulmonary artery aneurysm, Pulmonary artery dilatation, Pulmonary insufficiency, Recurrent urinary tract infections, Redundant skin, Renal diverticulum, Soft skin
U1	COL11A1	2.996122503	0	Extracellular matrix protein	BrainSpLMD|1301;Eurexp|euxassay_004200|axial skeleton, clavicle, cranium, femur, fibula, footplate, handplate, humerus, hyoid bone, mandible, nasal septum, otic capsule, palatal shelf, pelvic girdle, radius, rib, sternum, tibia, turbinate bones, ulna;BrainSpMouseDev|12597	OMIM|120280;HPO|1301|Abnormal diaphysis morphology, Abnormal form of the vertebral bodies, Abnormality of the dentition, Abnormality of the metaphysis, Abnormality of the pinna, Abnormality of the vitreous humor, Absent frontal sinuses, Amblyopia, Anterior rib cupping, Anteverted nares, Arachnodactyly, Arthralgia, Arthropathy, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bifid uvula, Brachycephaly, Brachydactyly, Broad ischia, Broad long bones, Broad ribs, Calcification of falx cerebri, Camptodactyly, Cataract, Cerebral calcification, Cleft palate, Clinodactyly of the 5th finger, Congenital cataract, Corneal opacity, Coxa valga, Depressed nasal bridge, Downslanted palpebral fissures, Dumbbell-shaped long bone, Ectopia lentis, Epicanthus, Epiphyseal dysplasia, Esotropia, Femoral bowing, Fibular hypoplasia, Flat face, Frontal bossing, Genu valgum, Glaucoma, Glossoptosis, Hearing abnormality, Hydrops fetalis, Hypertelorism, Hypohidrosis, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hypoplastic fingernail, Hypoplastic frontal sinuses, Hypoplastic ilia, Hypoplastic ischia, Hypoplastic scapulae, Hypoplastic toenails, Hypotrichosis, Irregular distal femoral epiphysis, Irregular proximal tibial epiphyses, Irregular vertebral endplates, Joint contracture of the hand, Joint hyperflexibility, Joint hypermobility, Lens luxation, Long clavicles, Long fingers, Long philtrum, Low-set ears, Macrodontia of permanent maxillary central incisor, Malar flattening, Megalocornea, Meningeal calcification, Micrognathia, Micromelia, Midface retrusion, Myopia, Narrow chest, Narrow greater sacrosciatic notches, Narrow mouth, Omphalocele, Osteoarthritis, Patent foramen ovale, Pierre-Robin sequence, Platyspondyly, Posterior rib cupping, Posterior vertebral hypoplasia, Premature birth, Proptosis, Protuberant abdomen, Radial bowing, Respiratory insufficiency, Retinal detachment, Retinopathy, Rhizomelia, Round face, Sensorineural hearing impairment, Severe Myopia, Short femur, Short foot, Short long bone, Short neck, Short nose, Short palm, Short ribs, Short stature, Small distal femoral epiphysis, Small hand, Small proximal tibial epiphyses, Spondyloepiphyseal dysplasia, Stillbirth, Thick lower lip vermilion, Thick upper lip vermilion, Thickened calvaria, Thin clavicles, Thin ribs, Thoracic hypoplasia, Ulnar bowing, Upper airway obstruction, Visual impairment, Vitreoretinal degeneration, Wide anterior fontanel, Wide nasal bridge, Wide tufts of distal phalanges, Widely patent coronal suture, Widely patent sagittal suture
U1	RDH10	2.994518004	0	Enzyme: Dehydrogenase	BrainSpLMD|157506;Eurexp|euxassay_005601|bladder, brain, footplate, genital tubercle, handplate, lip, mesothelium, midgut, naris, olfactory, rectum, spinal cord, stomach	OMIM|607599
U1	TCEA3	2.975066388	0	Transcription regulatory protein	BrainSpLMD|6920	OMIM|604128
U1	ADAMTS4	2.974388229	0	Metallo protease	BrainSpLMD|9507;Eurexp|euxassay_004320|vibrissa	OMIM|603876
U1	ARHGAP28	2.971205714	0	Unclassified;GTPase activating protein	BrainSpLMD|79822	OMIM|610592
U1	LOXL2	2.942752434	0	Enzyme: Oxidase	BrainSpLMD|4017;BrainSpMouseDev|60979	OMIM|606663
U1	SVEP1	2.923091213	0	Adhesion molecule	Eurexp|euxassay_013843|bladder, ductus deferens, hindgut, lip, midgut, oesophagus, stomach, turbinate bones	OMIM|611691
U1	EDNRA	2.915758992	0	G protein coupled receptor	BrainSpLMD|1909	OMIM|131243;HPO|1909|Autosomal dominant inheritance, Cleft palate, Conductive hearing impairment, Cupped ear, Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Facial asymmetry, Hypoplasia of the maxilla, Low-set ears, Mandibulofacial dysostosis, Micrognathia, Protruding ear, Sparse and thin eyebrow, Sparse eyelashes, Stenosis of the external auditory canal, Trismus, Wide nasal bridge
U1	ENPEP	2.901183627	0	Aminopeptidase	BrainSpLMD|2028;Eurexp|euxassay_010473|cochlea, lung, metanephros, physiological umbilical hernia, rectum	OMIM|138297
U1	CREB3L1	2.900964775	0	Transcription regulatory protein	BrainSpLMD|90993;Eurexp|euxassay_010439|clavicle, femur, fibula, frontal bone primordium, hip, humerus, mandible, maxilla, orbito-sphenoid, rectum, rib, scapula, stomach, tibia, wall;BrainSpMouseDev|26175	OMIM|616215;COSMIC||myxofibrosarcoma
U1	FAM46C	2.889141078	0	Unclassified	BrainSpLMD|54855;Eurexp|euxassay_013491|lens, lobe, pancreas	OMIM|613952;COSMIC||MM
U1	CPED1	2.875275537	0	Unclassified	BrainSpLMD|79974;Eurexp|euxassay_009303|capsule, dermis, ear, footplate, handplate, head mesenchyme, left lung, meninges, mesenchyme, midgut, right lung, stomach, vibrissa	
U1	S100A11	2.873154998	0	Calcium binding protein	BrainSpLMD|6282	OMIM|603114
U1	NFATC1	2.847412832	0	Transcription factor	BrainSpLMD|4772;BrainSpMouseDev|17785	OMIM|600489
U1	CPQ	2.847234015	0		BrainSpLMD|10404	
U1	SULF1	2.837159532	0	Enzyme: Sulphatase	BrainSpLMD|23213	OMIM|610012
U1	TWIST1	2.825070296	0	Transcription factor	BrainSpLMD|7291;Eurexp|euxassay_005335|valve;BrainSpMouseDev|21917	OMIM|601622;HPO|7291|Abnormal heart morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the nasolacrimal system, Absent first metatarsal, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharospasm, Brachycephaly, Brachydactyly, Breast carcinoma, Broad forehead, Broad hallux, Buphthalmos, Cleft of chin, Cleft palate, Clinodactyly of the 5th finger, Convex nasal ridge, Coronal craniosynostosis, Craniosynostosis, Delayed cranial suture closure, Depressed nasal bridge, Dolichocephaly, Duplication of phalanx of hallux, External ear malformation, Facial asymmetry, Finger syndactyly, Flat face, Flat forehead, Frontal bossing, Hallux valgus, Hearing impairment, High forehead, Hyperlordosis, Hypertelorism, Hypoplasia of the maxilla, Increased intracranial pressure, Intellectual disability, moderate, Lambdoidal craniosynostosis, Long nose, Low anterior hairline, Low-set ears, Malar flattening, Microtia, Narrow internal auditory canal, Narrow nose, Narrow palate, Open bite, Oxycephaly, Parietal foramina, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of the distal phalanx of the 3rd finger, Plagiocephaly, Prominent crus of helix, Prominent nasal bridge, Proptosis, Ptosis, Radioulnar synostosis, Scaphocephaly, Shallow orbits, Short stature, Skull asymmetry, Strabismus, Toe syndactyly, Turricephaly, Underdeveloped supraorbital ridges, Variable expressivity, Visual field defect
U1	C1QTNF3	2.803546374	0	Secreted polypeptide	BrainSpLMD|114899;Eurexp|euxassay_001714|axial muscle, limb, lower jaw, molar, nucleus pulposus, pectoral girdle and thoracic body wall, tail, upper jaw, ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|612045
U1	C2orf40	2.795078155	0	Unclassified	BrainSpLMD|84417;Eurexp|euxassay_005368|4th ventricle, choroid plexus, clavicle, cranium, humerus, rib, scapula, trachea, ventricular layer	OMIM|611752
U1	INPP4B	2.792615695	0	Enzyme: Phosphotransferase	BrainSpLMD|8821;Eurexp|euxassay_012070|mantle layer, mesenchyme, penis, skeletal muscle, vertebral axis muscle system;BrainSpMouseDev|87845	OMIM|607494
U1	SNORD114.26	2.773914185	0			
U1	PLOD1	2.75979515	0	Enzyme: Hydroxylase	BrainSpLMD|5351;Eurexp|euxassay_002758|axial skeleton, brain, clavicle, femur, humerus, intervertebral disc, lumbar region, mesenchyme, nasal septum, otic capsule, rib, sacral region, skeleton, thoracic region, trachea, turbinate bones, ventricular layer, vertebral cartilage condensation	OMIM|153454;HPO|5351|Abnormality of metabolism/homeostasis, Abnormality of the hip bone, Aortic dissection, Arachnodactyly, Arterial dissection, Arterial rupture, Atypical scarring of skin, Autosomal recessive inheritance, Bladder diverticulum, Blindness, Blue sclerae, Bruising susceptibility, Congestive heart failure, Decreased fetal movement, Decreased pulmonary function, Dental crowding, Depressed nasal bridge, Disproportionate tall stature, Epicanthus, Gait disturbance, Gastrointestinal hemorrhage, Generalized hypotonia, Generalized joint laxity, Glaucoma, Hyperextensible skin, Inguinal hernia, Joint dislocation, Joint hyperflexibility, Joint laxity, Keratoconus, Kyphosis, Microcornea, Mitral valve prolapse, Molluscoid pseudotumors, Motor delay, Myopia, Neonatal hypotonia, Osteoporosis, Palmoplantar cutis laxa, Pes planus, Premature rupture of membranes, Progressive congenital scoliosis, Recurrent pneumonia, Respiratory insufficiency, Retinal detachment, Retinopathy, Scoliosis, Soft skin, Spontaneous rupture of the globe, Subcutaneous hemorrhage, Talipes equinovarus, Tall stature, Thin skin, Visual impairment
U1	BMP3	2.757751451	0	Ligand	BrainSpLMD|651;Eurexp|euxassay_008763|axial muscle, axial skeleton, cervical, cervico-thoracic, extrinsic ocular muscle, lip, lung, mandible, mantle layer, maxilla, mesenchyme, metanephros, metatarsus, midgut, nasal septum, nucleus pulposus, orbito-sphenoid, palatal shelf, phalanx, pharyngo-tympanic tube, rib, skeletal muscle, stomach, temporal bone, thoracic, turbinate bones, ureter, urethra, vibrissa;BrainSpMouseDev|74232	OMIM|112263
U1	LAMA4	2.757555778	0	Adhesion molecule	BrainSpLMD|3910;Eurexp|euxassay_013553|lip, nasal cavity	OMIM|600133;HPO|3910|Autosomal dominant inheritance, Dilated cardiomyopathy
U1	CD109	2.743155363	0	Unclassified	BrainSpLMD|135228;BrainSpMouseDev|88069	OMIM|608859
U1	CRABP2	2.739110704	0	Transcription regulatory protein	BrainSpLMD|1382;Eurexp|euxassay_004796|arm, axial skeleton, cornea, diaphragm, dorsal root ganglion, epithelium, footplate, handplate, incisor, leg, lip, mantle layer, meninges, mesenchyme, metanephros, molar, neural retina, olfactory, penis, pituitary, retina, saccule, thymus primordium, trigeminal V, ventral grey horn, vertebral axis muscle system, vibrissa	OMIM|180231
U1	DOCK5	2.739046066	0	Unclassified	BrainSpLMD|80005;Eurexp|euxassay_014244|cortex	OMIM|616904
U1	CXCL12	2.735188084	0	Chemokine;Cytokine	BrainSpLMD|6387;Eurexp|euxassay_005766|aorta, axial muscle, bladder, cranial muscle, ductus deferens, extrinsic ocular muscle, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, maxillary division, meninges, mesenchyme, metanephros, penis, physiological umbilical hernia, rest of mesenchyme, rib, testis, tongue, turbinate bones;BrainSpMouseDev|20078	OMIM|600835
U1	COL27A1	2.729831344	0	Extracellular matrix protein	BrainSpLMD|85301;Eurexp|euxassay_016233|Meckel's cartilage, axial skeleton, clavicle, cricoid, exoccipital bone, femur, fibula, hyoid bone, lung, mesenchyme, metatarsus, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, rib, sternum, temporal bone, thyroid, tibia, trachea, turbinate, vibrissa	OMIM|608461;HPO|85301|Autosomal recessive inheritance, Dislocated radial head, Hypertelorism, Prominent forehead, Scoliosis, Short stature, Wide nasal bridge
U1	C1QTNF7	2.726568417	0	Structural protein	BrainSpLMD|114905;Eurexp|euxassay_008792|basioccipital bone, basisphenoid bone, exoccipital bone, fibula, foramen ovale, humerus, orbito-sphenoid, pelvic girdle, petrous part, radius, scapula, tibia, turbinate, ulna	
U1	ANXA2	2.721533209	0	Calcium binding protein	BrainSpLMD|302;Eurexp|euxassay_013682|basal plate, mantle layer, ventral grey horn;BrainSpMouseDev|12091	OMIM|151740
U1	SOCS3	2.706377604	0	Adapter molecule	BrainSpLMD|9021	OMIM|604176
U1	FOXC1	2.68872263	0	Transcription factor	BrainSpLMD|2296;Eurexp|euxassay_012742|meninges, mesenchyme, nasal cavity, nasal septum, otic capsule, submandibular gland primordium, turbinate bones;BrainSpMouseDev|17069	OMIM|601090;HPO|2296|Abnormal iris vasculature, Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Aniridia, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the macula, Atrial septal defect, Autosomal dominant inheritance, Axenfeld anomaly, Cataract, Cerebellar vermis hypoplasia, Concave nasal ridge, Ectopia pupillae, Everted lower lip vermilion, Glaucoma, Hearing impairment, Heterogeneous, Hypertelorism, Hypodontia, Hypoplasia of the iris, Hypoplastic iris stroma, Malar flattening, Microdontia, Midface retrusion, Nystagmus, Patent ductus arteriosus, Peters anomaly, Posterior embryotoxon, Proptosis, Rieger anomaly, Sensorineural hearing impairment, Visual loss
U1	FSTL1	2.685028895	0	Protease inhibitor	Eurexp|euxassay_003685|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail;BrainSpMouseDev|14090	OMIM|605547
U1	FNDC3B	2.676181827	0	Integral membrane protein	BrainSpLMD|64778	OMIM|611909
U1	SCPEP1	2.670642268	0	Carboxypeptidase	BrainSpLMD|59342;BrainSpMouseDev|50458	
U1	PRSS23	2.662396056	0	Serine protease	BrainSpLMD|11098;Eurexp|euxassay_007251|axial skeleton, incisor, metanephros, physiological umbilical hernia, turbinate bones	
U1	CD248	2.661116027	0	Integral membrane protein	BrainSpLMD|57124;Eurexp|euxassay_012090|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, otic capsule, pelvic girdle, radius, rib, scapula, tarsus, temporal bone, tibia, turbinate	OMIM|606064
U1	GSN	2.645947103	0	Cytoskeletal protein	BrainSpLMD|2934	SFARI||Autism, No category;OMIM|137350;HPO|2934|Abnormality of abdomen morphology, Adult onset, Autosomal dominant inheritance, Bulbar palsy, Cardiac amyloidosis, Cardiomyopathy, Cutis laxa, Generalized amyloid deposition, Lattice corneal dystrophy, Nephrotic syndrome, Polyneuropathy, Renal insufficiency
U1	FKBP14	2.644931434	0	Enzyme: Isomerase	BrainSpLMD|55033;Eurexp|euxassay_003765|Meckel's cartilage, basisphenoid bone, clavicle, incisor, molar, orbito-sphenoid, rib, turbinate	OMIM|614505;HPO|55033|Atrophic scars, Autosomal recessive inheritance, Bruising susceptibility, Easy fatigability, Elevated serum creatine phosphokinase, Follicular hyperkeratosis, Hernia, High-frequency sensorineural hearing impairment, Hyperextensible skin, Joint hypermobility, Kyphoscoliosis, Motor delay, Muscular hypotonia, Myopathy, Myopia, Osteopenia, Pes planus, Phenotypic variability, Poor head control, Sensorineural hearing impairment, Severe muscular hypotonia, Skeletal muscle atrophy, Soft skin
U1	FREM1	2.628598932	0	Unclassified	BrainSpLMD|158326;Eurexp|euxassay_016475|mantle layer, olfactory, ventricular layer	OMIM|608944;HPO|158326|Abnormal hair pattern, Abnormality of the 5th toe, Abnormality of the hair, Abnormality of the kidney, Anal stenosis, Anophthalmia, Anteriorly placed anus, Autosomal dominant inheritance, Autosomal recessive inheritance, Bifid nose, Bulbous nose, Cleft eyelid, Hypertelorism, Hypotelorism, Metopic synostosis, Microphthalmia, Nasolacrimal duct obstruction, Omphalocele, Prominent supraorbital ridges, Rectovaginal fistula, Renal agenesis, Short lingual frenulum, Short philtrum, Synophrys, Trigonocephaly, Upper eyelid coloboma, Wide nasal bridge
U1	EHD2	2.626405818	0	Unclassified	BrainSpLMD|30846	OMIM|605890
U1	GJA1	2.620163364	0	Membrane transport protein	BrainSpLMD|2697;BrainSpMouseDev|14385	OMIM|121014;HPO|2697|2-4 toe cutaneous syndactyly, 3-4 toe syndactyly, 4-5 finger syndactyly, Abnormal blistering of the skin, Abnormal cortical bone morphology, Abnormality of dental enamel, Abnormality of dental morphology, Abnormality of the cerebral white matter, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormality of the nasopharynx, Abnormality of the thorax, Absent middle phalanx of 5th finger, Alopecia, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the middle phalanges of the hand, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Basal ganglia calcification, Blepharophimosis, Bony paranasal bossing, Brachycephaly, Broad alveolar ridges, Broad columella, Broad long bones, Camptodactyly of finger, Carious teeth, Cataract, Cerebral calcification, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Club-shaped distal femur, Coarse facial features, Conductive hearing impairment, Congenital alopecia totalis, Congestive heart failure, Cranial hyperostosis, Craniofacial hyperostosis, Cubitus valgus, Curly hair, Cutaneous photosensitivity, Cyanosis, Delayed eruption of permanent teeth, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Depressed nasal bridge, Diabetes mellitus, Downslanted palpebral fissures, Dry hair, Dry skin, Dysarthria, Dystrophic fingernails, Epicanthus, Epidermal acanthosis, Erythema, External ear malformation, Facial hyperostosis, Facial palsy, Failure to thrive, Fifth finger distal phalanx clinodactyly, Fine hair, Finger syndactyly, Fingernail dysplasia, First degree atrioventricular block, Flared metaphysis, Fragile nails, Frontal bossing, Gait disturbance, Generalized hyperkeratosis, Glaucoma, High forehead, High-grade hypermetropia, Hip dislocation, Hyperactive deep tendon reflexes, Hypergranulosis, Hypermelanotic macule, Hyperreflexia, Hypertelorism, Hypoplasia of dental enamel, Hypoplasia of teeth, Hypoplasia of the maxilla, Hypoplastic aortic arch, Hypoplastic left heart, Hypotelorism, Hypotrichosis, Infantile onset, Inlet ventricular septal defect, Intellectual disability, Joint contracture of the 5th finger, Large earlobe, Long nose, Long philtrum, Low-set ears, Macrocephaly, Macrodontia of permanent maxillary central incisor, Mandibular prognathia, Median cleft lip, Metaphyseal dysplasia, Microcephaly, Microcornea, Microdontia, Micrognathia, Microphthalmia, Mild global developmental delay, Mixed hearing impairment, Muscle weakness, Myopia, Nail dysplasia, Narrow mouth, Narrow nasal bridge, Narrow nose, Nasal obstruction, Neurogenic bladder, Optic atrophy, Osteopetrosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Paraparesis, Patchy palmoplantar keratoderma, Patchy sclerosis of finger phalanx, Persistent pupillary membrane, Phenotypic variability, Premature loss of primary teeth, Premature loss of teeth, Primum atrial septal defect, Prominent epicanthal folds, Pulmonary arterial hypertension, Reduced number of teeth, Seizures, Selective tooth agenesis, Short 5th finger, Short foot, Short middle phalanx of the 5th finger, Short nose, Short palpebral fissure, Short stature, Skeletal dysplasia, Skin rash, Slow-growing hair, Small hand, Sparse eyelashes, Sparse hair, Spastic paraparesis, Spasticity, Telecanthus, Tetraparesis, Thin anteverted nares, Thin vermilion border, Toe syndactyly, Underdeveloped nasal alae, Vertebral hyperostosis, Visual impairment, Weight loss, Wide nasal bridge
U1	LAMA2	2.617846902	0	Extracellular matrix protein	BrainSpLMD|3908	OMIM|156225;HPO|3908|Abnormal brainstem MRI signal intensity, Abnormal cortical gyration, Abnormality of the temporomandibular joint, Areflexia, Aspiration, Astrocytosis, Autosomal recessive inheritance, Cerebral edema, Chewing difficulties, Congenital muscular dystrophy, Congenital onset, Elevated serum creatine phosphokinase, Facial palsy, Feeding difficulties in infancy, Flexion contracture, Gastroesophageal reflux, Generalized hypotonia, Highly elevated creatine phosphokinase, Hypointensity of cerebral white matter on MRI, Hypokinesia, Inability to walk, Increased connective tissue, Intellectual disability, Kyphoscoliosis, Macroglossia, Motor delay, Muscle fiber atrophy, Muscular dystrophy, Myositis, Recurrent lower respiratory tract infections, Respiratory failure, Respiratory insufficiency due to muscle weakness, Seizures, Weak cry
U1	MSRB3	2.613035312	0	Enzyme: Reductase	BrainSpLMD|253827;Eurexp|euxassay_000090|Meckel's cartilage, axial skeleton, bladder, chondrocranium, clavicle, cochlea, dorsal root ganglion, facial bones primordia, fibula, frontal bone primordium, heart, hindlimb, hip, hyoid bone, inner ear, labyrinth, leg, lower jaw, lower leg, lung, mandible, maxilla, mesenchyme, nucleus pulposus, otic capsule, palatal shelf, pelvic girdle, premaxilla, primary palate, rib, sacral region, scapula, shoulder, skeleton, submandibular gland primordium, tibia, trigeminal V, turbinate, turbinate bones, upper jaw, valve, vault of skull, ventricle, vertebra, vestibular component	OMIM|613719;HPO|253827|Autosomal recessive inheritance, Hearing impairment
U1	KLF4	2.612087198	0	Transcription regulatory protein	BrainSpLMD|9314;Eurexp|euxassay_005264|arm, bladder, clavicle, cranium, extraembryonic component, femur, fibula, footplate, forelimb, handplate, hindlimb, lower leg, mandible, maxilla, molar, oesophagus, orbito-sphenoid, palatal shelf, penis, rest of mesenchyme, rib, tibia, vertebral axis muscle system, vibrissa;BrainSpMouseDev|16373	OMIM|602253;COSMIC||meningioma
U1	CTHRC1	2.601960572	0	Extracellular matrix protein	BrainSpLMD|115908;Eurexp|euxassay_010954|axial skeleton, basioccipital bone, basisphenoid bone, calyces, carpus, clavicle, cornea, diaphragm, femur, fibula, humerus, hyoid bone, mandible, maxilla, meninges, mesenchyme, metacarpus, metatarsus, midgut, naris, nasal septum, oesophagus, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, stomach, tarsus, thyroid, tibia, tongue, turbinate bones, ulna, valve, vault of skull	OMIM|610635;HPO|115908|Barrett esophagus, Esophageal carcinoma, Somatic mutation
U1	FN1	2.600665489	0	Extracellular matrix protein	BrainSpLMD|2335;Eurexp|euxassay_001464|axial skeleton, stomach, ventricular layer;BrainSpMouseDev|14045	OMIM|135600;HPO|2335|Autosomal dominant inheritance, Edema of the lower limbs, Generalized distal tubular acidosis, Glomerulopathy, Hypertension, Hypoalbuminemia, Mesangial abnormality, Microscopic hematuria, Nephrotic syndrome, Proteinuria, Renal cell carcinoma, Renal insufficiency, Slow progression, Stage 5 chronic kidney disease
U1	ROR1	2.595536871	0	Receptor tyrosine kinase	BrainSpLMD|4919;BrainSpMouseDev|26310	OMIM|602336
U1	AEBP1	2.59149459	0	Transcription regulatory protein	BrainSpLMD|165	OMIM|602981
U1	SIX2	2.586018782	0	Transcription factor	BrainSpLMD|10736;Eurexp|euxassay_019523|dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, neural retina, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20234	OMIM|604994
U1	ITGA5	2.580132221	0	Cell surface receptor	BrainSpLMD|3678;Eurexp|euxassay_010968|axial skeleton, bladder, midgut, oesophagus, rectum, skeletal muscle, stomach	OMIM|135620
U1	CRABP1	2.576100268	0	Transport/cargo protein	BrainSpLMD|1381	OMIM|180230
U1	SNAI2	2.573866038	0	Transcription factor	BrainSpLMD|6591;Eurexp|euxassay_018890|excretory component, hindgut, loop, midgut, rectum, stomach	OMIM|602150;HPO|6591|Abnormality of the ear, Absent pigmentation of the ventral chest, Aganglionic megacolon, Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital sensorineural hearing impairment, Heterochromia iridis, Heterogeneous, Hypopigmented skin patches, Macule, Neoplasm, Partial albinism, Piebaldism, Premature graying of hair, Sensorineural hearing impairment, Telecanthus, White eyebrow, White eyelashes, White forelock
U1	FRMD6	2.566160859	0	Unclassified	BrainSpLMD|122786;Eurexp|euxassay_002791|basal plate, lung, submandibular gland primordium, thymus primordium, vibrissa	OMIM|614555
U1	LPAR1	2.561126817	0	G protein coupled receptor	BrainSpLMD|1902	OMIM|602282
U1	OAF	2.551403329	0	Unclassified	BrainSpLMD|220323	
U1	BGN	2.550477462	0	Extracellular matrix protein	BrainSpLMD|633	OMIM|301870;HPO|633|Anterior wedging of T11, Anterior wedging of T12, Bifid uvula, Brachydactyly, Broad long bone diaphyses, Broad metacarpals, Broad phalanx, Cone-shaped epiphyses fused within their metaphyses, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped metacarpal epiphyses, Coxa valga, Delayed ossification of carpal bones, Disproportionate short-trunk short stature, Downslanted palpebral fissures, Flared iliac wings, Flat acetabular roof, Frontal bossing, Hypertelorism, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Joint hypermobility, Kyphosis, Limited elbow extension, Long fibula, Long ulna, Lumbar hyperlordosis, Malar flattening, Metaphyseal irregularity, Mitral regurgitation, Narrow pelvis bone, Pectus carinatum, Platyspondyly, Posterior rib cupping, Prominent styloid process of ulna, Proptosis, Radial deviation of the hand, Short clavicles, Short foot, Short long bone, Short metacarpal, Short palm, Short phalanx of finger, Spondyloepimetaphyseal dysplasia, X-linked inheritance, X-linked recessive inheritance
U1	MFAP2	2.547079911	0	Extracellular matrix protein	BrainSpLMD|4237;Eurexp|euxassay_002967|skeleton	OMIM|156790
U1	CALCRL	2.53914361	0	G protein coupled receptor	BrainSpLMD|10203	OMIM|114190
U1	RCN3	2.532990253	0	Calcium binding protein	BrainSpLMD|57333	
U1	ADAMTSL1	2.528226394	0	Secreted polypeptide	BrainSpLMD|92949	OMIM|609198
U1	S100A6	2.523528306	0	Calcium binding protein	BrainSpLMD|6277	OMIM|114110
U1	RARG	2.508637414	0	Transcription regulatory protein	BrainSpLMD|5916;Eurexp|euxassay_018429|Meckel's cartilage, axial skeleton, clavicle, cranium, ethmoid bone primordium, exoccipital bone, femur, fibula, footplate, frontal bone primordium, heart, humerus, inter-parietal bone primordium, lung, mandible, mantle layer, maxilla, metatarsus, mitral valve, oesophagus, parietal bone, pelvic girdle, petrous part, rib, right lung, scapula, shoulder joint primordium, sphenoid, stomach, temporal bone, tibia, tricuspid valve, turbinate, vertebra, vertebral cartilage condensation;BrainSpMouseDev|19174	OMIM|180190
U1	ZIC1	2.506443396	0	Transcription factor	BrainSpLMD|7545;Eurexp|euxassay_010449|dorsal grey horn, mantle layer, marginal layer, meninges, neural retina, ventricular layer;BrainSpMouseDev|22528	OMIM|600470;HPO|7545|Agenesis of corpus callosum, Arnold-Chiari malformation, Autosomal dominant inheritance, Brachycephaly, Broad forehead, Cerebellar atrophy, Coronal craniosynostosis, Craniosynostosis, Facial asymmetry, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hypertelorism, Increased intracranial pressure, Intellectual disability, moderate, Intellectual disability, severe, Oxycephaly, Papilledema, Plagiocephaly, Proptosis, Sagittal craniosynostosis, Strabismus, Underdeveloped supraorbital ridges, Visual field defect
U1	CALU	2.506343456	0	Calcium binding protein	BrainSpLMD|813	OMIM|603420
U1	IRF1	2.506233111	0	Transcription regulatory protein	BrainSpLMD|3659;Eurexp|euxassay_003661|midgut, testis, thymus primordium;BrainSpMouseDev|16135	OMIM|147575;HPO|3659|Alveolar cell carcinoma, Autosomal recessive inheritance, Somatic mutation, Stomach cancer
U1	PCDH18	2.505827758	0	Adhesion molecule	BrainSpLMD|54510;BrainSpMouseDev|49014	OMIM|608287
U1	NRP2	2.503044707	0	Cell surface receptor	BrainSpLMD|8828;Eurexp|euxassay_009620|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V;BrainSpMouseDev|17954	SFARI||Autism, 4 - Minimal evidence;OMIM|602070
U1	ANXA2P2	2.495836456	0		BrainSpLMD|304	
U1	NID1	2.488552307	0	Extracellular matrix protein	BrainSpLMD|4811;Eurexp|euxassay_009707|cervical region, diaphragm, dorsal grey horn, extrinsic ocular muscle, lens, maxillary division, meninges, turbinate bones, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|131390
U1	IGFBP4	2.486361953	0	Adhesion molecule	BrainSpLMD|3487;BrainSpMouseDev|15783	OMIM|146733
U1	CDH11	2.473433279	0	Cell junction protein	BrainSpLMD|1009;BrainSpMouseDev|12337	SFARI||Autism, No category;OMIM|600023;COSMIC||aneurysmal bone cyst
U1	ABI3BP	2.468273126	0	Unclassified	BrainSpLMD|25890;Eurexp|euxassay_013992|mesenchyme, olfactory, stomach	OMIM|606279
U1	PYCR1	2.465837654	0	Enzyme: Oxidoreductase	Eurexp|euxassay_006989|axial skeleton, clavicle, mandible, maxilla, nasal septum, orbito-sphenoid, otic capsule, paraxial mesenchyme, petrous part, rib, skeleton, turbinate bones	OMIM|179035;HPO|5831|Agenesis of corpus callosum, Autosomal recessive inheritance, Beaking of vertebral bodies, Biconcave vertebral bodies, Blepharophimosis, Blue sclerae, Bowing of the long bones, Broad forehead, Congenital glaucoma, Congenital hip dislocation, Cryptorchidism, Cutis laxa, Deeply set eye, Delayed speech and language development, Dermal translucency, Downslanted palpebral fissures, Elbow flexion contracture, Excessive wrinkled skin, Failure to thrive, Fine hair, Frontal bossing, Gastroesophageal reflux, Global developmental delay, Hip dislocation, Hydrocephalus, Hyperextensible skin, Hypertelorism, Inguinal hernia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Large fontanelles, Malar flattening, Microcephaly, Midface retrusion, Muscular hypotonia, Narrow nasal ridge, Osteopenia, Osteoporosis, Posteriorly rotated ears, Prominent forehead, Prominent superficial veins, Protruding ear, Recurrent fractures, Redundant skin, Scoliosis, Severe short stature, Sparse hair, Thin skin, Thin vermilion border, Triangular face, Vertebral compression fractures
U1	TMEM119	2.461312742	0	Unclassified	BrainSpLMD|338773;Eurexp|euxassay_004280|axial skeleton, clavicle, cranium, femur, fibula, footplate, handplate, mandible, maxilla, orbito-sphenoid, palatal shelf, rib, tibia, visceral organ;BrainSpMouseDev|87282	
U1	RNF144B	2.461024291	0	Ubiquitin proteasome system protein	BrainSpLMD|255488;Eurexp|euxassay_001593|Meckel's cartilage, basisphenoid bone, bladder, exoccipital bone, frontal bone primordium, incisor, molar, neural retina, oral epithelium, orbito-sphenoid, otic capsule, pectoral girdle and thoracic body wall, rib, tongue, turbinate, vault of skull, ventricular layer, vibrissa	
U1	S1PR2	2.454216706	0	G protein coupled receptor	BrainSpLMD|9294;Eurexp|euxassay_006718|bladder, incisor, molar	OMIM|605111;HPO|9294|Autosomal recessive inheritance, Infantile onset, Sensorineural hearing impairment
U1	ZFP36	2.446125314	0	RNA binding protein	BrainSpLMD|7538	OMIM|190700
U1	LTBP1	2.433198626	0	Extracellular matrix protein	BrainSpLMD|4052	OMIM|150390
U1	MIR22HG	2.42841133	0		BrainSpLMD|84981	
U1	PAPSS2	2.423755253	0	Enzyme: Ligase	BrainSpLMD|9060;Eurexp|euxassay_005940|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, digit 1, digit 2, digit 3, digit 4, digit 5, exoccipital bone, femur, fibula, footplate, handplate, humerus, hyoid bone, naris, nasal septum, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones, valve, vault of skull	OMIM|603005;HPO|9060|Acne, Autosomal recessive inheritance, Bowing of the legs, Brachydactyly, Hirsutism, Irregular vertebral endplates, Kyphoscoliosis, Lower limb undergrowth, Lumbar scoliosis, Platyspondyly, Premature pubarche, Secondary amenorrhea, Short stature, Spondyloepimetaphyseal dysplasia
U1	AC116366.6	2.41079458	0			
U1	DHRS3	2.402523417	0	Enzyme: Dehydrogenase	BrainSpLMD|9249;Eurexp|euxassay_011877|epithelium, fundus region, sublingual gland primordium, urethra, ventricular layer	OMIM|612830
U1	EMP3	2.395636824	0	Integral membrane protein	BrainSpLMD|2014;Eurexp|euxassay_008825|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, mandible, maxilla, meninges, metatarsus, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, tibia, turbinate bones, ulna, vault of skull	OMIM|602335
U1	NUPR1	2.38889146	0	DNA binding protein	BrainSpLMD|26471;Eurexp|euxassay_002170|Meckel's cartilage, incisor, molar, orbito-sphenoid, pancreas	OMIM|614812
U1	PDGFRA	2.385761791	0	Receptor tyrosine kinase	BrainSpLMD|5156;BrainSpMouseDev|18361	OMIM|173490;COSMIC||GIST, idiopathic hypereosinophilic syndrome, paediatric glioblastoma, GIST;HPO|5156|Abnormality of the nervous system, Autosomal dominant inheritance, Constipation, Dysphagia, Endocardial fibrosis, Eosinophilia, Fatigue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Hepatomegaly, Hyperpigmentation of the skin, Intestinal obstruction, Large hands, Myalgia, Myeloproliferative disorder, Nausea and vomiting, Neoplasm of the stomach, Neurofibromas, Pruritus, Pulmonary infiltrates, Restrictive cardiomyopathy, Sarcoma, Somatic mutation, Splenomegaly, Sporadic, Urticaria, Venous thrombosis
U1	ZFHX3	2.382039569	0	DNA binding protein	BrainSpLMD|463;Eurexp|euxassay_016590|axial skeleton, cervical, cervico-thoracic, cornea, dorsal root ganglion, exoccipital bone, facial VII, glossopharyngeal IX, head mesenchyme, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, mesenchyme, metatarsus, neural retina, orbito-sphenoid, penis, thoracic, trigeminal V, turbinate, vagus X, vault of skull, ventral grey horn;BrainSpMouseDev|11693	OMIM|104155;COSMIC||endometrial, gastric, prostate
U1	FOXP2	2.376743319	0	Transcription factor	BrainSpLMD|93986;Eurexp|euxassay_010964|axial skeleton, basal columns, bladder, cochlea, cortex, cranium, ear, extrinsic ocular muscle, femur, floor plate, floorplate, footplate, handplate, hindgut, humerus, lateral wall, leg, lung, mandible, mantle layer, meninges, mesenchyme, metatarsus, midgut, oesophagus, olfactory lobe, orbito-sphenoid, palatal shelf, pelvic girdle, phalanx, rectum, rest of mesenchyme, rib, skeleton, stomach, thyroid, tongue, trachea, turbinate bones, urethra, valve, ventral grey horn;BrainSpMouseDev|76994	SFARI||Autism, 3 - Suggestive evidence;OMIM|605317;HPO|93986|Abnormality of the basal ganglia, Abnormality of the face, Autosomal dominant inheritance, Delayed speech and language development, Incomprehensible speech, Oromotor apraxia
U1	PARVA	2.371454729	0	Cytoskeletal associated protein	BrainSpLMD|55742	OMIM|608120
U1	TLCD2	2.369776518	0			
U1	ADAM33	2.369106543	0	Metallo protease	BrainSpLMD|80332	OMIM|607114
U1	ARHGAP24	2.362916537	0	GTPase activating protein	BrainSpLMD|83478;Eurexp|euxassay_003218|Meckel's cartilage, axial skeleton, basal plate, calyces, choroid plexus, cranium, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral recess, lobe, molar, orbito-sphenoid, pons, rib, trigeminal V, turbinate bones, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	SFARI||Autism, 5 - Hypothesized but untested;OMIM|610586
U1	PDE3A	2.356935386	0	Enzyme: Phosphodiesterase	BrainSpLMD|5139;Eurexp|euxassay_018678|aorta, basioccipital bone, bladder, cranium, lip, liver, mantle layer, medullary stroma, mesenchyme, midgut, naris, rectum, stomach, turbinate bones, urethra, ventricular layer, vibrissa	OMIM|123805;HPO|5139|Autosomal dominant inheritance, Brachydactyly, Hypertension, Short metacarpal, Short phalanx of finger, Short stature
U1	ZIC4	2.356860828	0	DNA binding protein	BrainSpLMD|84107;BrainSpMouseDev|22531	OMIM|608948
U1	PTPN14	2.352473264	0	Tyrosine phosphatase	BrainSpLMD|5784;Eurexp|euxassay_009623|axial skeleton, metanephros, nasal septum, oesophagus, submandibular gland primordium, vibrissa	OMIM|603155;HPO|5784|Autosomal recessive inheritance, Choanal atresia, High palate, Lymphedema, Pericardial effusion
U1	PCSK5	2.350610543	0	Serine protease	BrainSpLMD|5125	OMIM|600488
U1	TPBG	2.34758538	0	Integral membrane protein	BrainSpLMD|7162;Eurexp|euxassay_000218|cortex, drainage component, floorplate, fundus region, lateral wall, mantle layer, pelvis, pineal primordium, roof plate, thalamus, ureter, ventricular layer	OMIM|190920
U1	KCNQ1OT1	2.347487718	0			OMIM|604115;HPO|10984|Abnormality of the dentition, Accelerated skeletal maturation, Adrenocortical carcinoma, Adrenocortical cytomegaly, Asymmetry of the thorax, Autosomal dominant inheritance, Cardiomegaly, Cardiomyopathy, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Diastasis recti, Enlarged kidney, Facial asymmetry, Gonadoblastoma, Hemihypertrophy, Hepatoblastoma, Hepatomegaly, Intellectual disability, mild, Large fontanelles, Macroglossia, Midface retrusion, Neonatal hypoglycemia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Omphalocele, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Posterior helix pit, Prominent metopic ridge, Prominent occiput, Proptosis, Renal cortical cysts, Scoliosis, Vesicoureteral reflux
U1	IFITM3	2.337505309	0	Integral membrane protein	BrainSpLMD|10410;Eurexp|euxassay_004558|pancreas, submandibular gland primordium, thymus primordium	OMIM|605579
U1	ALX4	2.317556182	0	Transcription factor	BrainSpLMD|60529;Eurexp|euxassay_012265|extrinsic ocular muscle, eye, mandible, meninges, penis, roof plate, submandibular gland primordium, turbinate bones, vibrissa;BrainSpMouseDev|11482	OMIM|605420;HPO|60529|Agenesis of cerebellar vermis, Agenesis of corpus callosum, Alopecia, Anteverted nares, Aplasia cutis congenita of scalp, Autosomal dominant inheritance, Autosomal recessive inheritance, Bifid nasal tip, Bifid nose, Brachycephaly, Broad nasal tip, Broad philtrum, Calvarial skull defect, Cerebellar vermis hypoplasia, Conical tooth, Coronal craniosynostosis, Craniosynostosis, Cryptorchidism, Decreased skull ossification, Depressed nasal bridge, Depressed nasal ridge, Depressed nasal tip, Dolichocephaly, Downturned corners of mouth, Encephalocele, Epicanthus, Exostoses, Fine hair, Frontal bossing, Global developmental delay, Hypertelorism, Hypogonadism, Hypoplasia of the corpus callosum, Intellectual disability, mild, Intellectual disability, moderate, Intrauterine growth retardation, Low-set ears, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Nystagmus, Oligohydramnios, Parietal foramina, Prominent nasal bridge, Scrotal hypoplasia, Seizures, Short palpebral fissure, Short philtrum, Sparse and thin eyebrow, Sparse eyelashes, Strabismus, Symmetrical, oval parietal bone defects, Telecanthus, Underdeveloped nasal alae, Upslanted palpebral fissure, Variable expressivity, Wide nasal bridge
U1	KDELC2	2.316327366	0	Unclassified	BrainSpLMD|143888	
U1	COLEC12	2.315402875	0	Cell surface receptor	BrainSpLMD|81035;Eurexp|euxassay_010114|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, left lung, meninges, mesenchyme, mesentery, mesothelium, midgut, naris, oesophagus, orbito-sphenoid, otic capsule, pelvic girdle, peritoneal cavity, petrous part, rib, right lung, scapula, sternum, stomach, tibia, trachea, turbinate bones, vault of skull	OMIM|607621
U1	LEPRE1	2.30913478	0			
U1	CCND1	2.306053909	0	Cell cycle control protein	BrainSpLMD|595;Eurexp|euxassay_002703|calyces, cervical, cervico-thoracic, neural retina, olfactory, orbito-sphenoid, submandibular gland primordium, thoracic, ventricular layer, vibrissa	OMIM|168461;COSMIC||CLL, B-ALL, breast;HPO|595|Abnormality of bone marrow cell morphology, Acute kidney injury, Anemia, Anorexia, B-cell lymphoma, Bone pain, Decreased antibody level in blood, Elevated serum creatinine, Fatigue, Fever, Generalized muscle weakness, Hyperproteinemia, Increased IgG level, Lymphadenopathy, Nephropathy, Nephrotic syndrome, Osteopenia, Pathologic fracture, Splenomegaly, Weight loss
U1	SIX1	2.300953893	0	Transcription factor	BrainSpLMD|6495;Eurexp|euxassay_010410|diaphragm, digit 1, digit 2, digit 3, digit 4, digit 5, footplate, pituitary, thymus primordium, tongue, vertebral axis muscle system;BrainSpMouseDev|20233	OMIM|601205;HPO|6495|Abnormality of the cerebrum, Abnormality of the middle ear ossicles, Abnormality of the renal collecting system, Atresia of the external auditory canal, Autosomal dominant inheritance, Bifid uvula, Branchial cyst, Branchial fistula, Cholesteatoma, Cleft palate, Commissural lip pit, Conductive hearing impairment, Congenital hip dislocation, Dilatated internal auditory canal, Enlarged cochlear aqueduct, Euthyroid goiter, External ear malformation, Gustatory lacrimation, Hearing impairment, Heterogeneous, High palate, Hypoplasia of the cochlea, Incomplete partition of the cochlea type II, Incomplete penetrance, Intestinal malrotation, Lacrimal duct stenosis, Long face, Microdontia, Mixed hearing impairment, Morphological abnormality of the middle ear, Narrow face, Overbite, Polycystic kidney dysplasia, Preauricular pit, Preauricular skin tag, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia, Renal malrotation, Renal steatosis, Sensorineural hearing impairment, Stenosis of the external auditory canal, Variable expressivity, Vesicoureteral reflux
U1	SNORD114.3	2.298878609	0			
U1	RBMS3	2.293404562	0	RNA binding protein	BrainSpLMD|27303	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605786
U1	STAT6	2.2847907	0	Transcription factor	BrainSpLMD|6778;Eurexp|euxassay_019507|bladder, oesophagus, olfactory, submandibular gland primordium, urethra	OMIM|601512;COSMIC||solitary fibrous tumour, meningeal haemangiopericytoma
U1	COPZ2	2.276462994	0	Transport/cargo protein	BrainSpLMD|51226	OMIM|615526
U1	AXL	2.269449129	0	Receptor tyrosine kinase	BrainSpLMD|558;Eurexp|euxassay_001756|cardiovascular system, gland, head mesenchyme, integumental system, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|26110	OMIM|109135;HPO|558|Autosomal dominant inheritance, Autosomal recessive inheritance, Cryptorchidism, Decreased testicular size, Gynecomastia, Hypogonadotrophic hypogonadism, Micropenis, Primary amenorrhea, Sparse axillary hair, Sparse pubic hair
U1	FLNB	2.266774828	0	Cytoskeletal associated protein	BrainSpLMD|2317;Eurexp|euxassay_014002|axial skeleton, clavicle, exoccipital bone, incisor, mandible, maxilla, mesenchyme, metatarsus, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, palatal shelf, phalanx, sternum, submandibular gland primordium, temporal bone, thymus primordium, thyroid, trachea, turbinate, ventricular layer, vibrissa	OMIM|603381;HPO|2317|11 pairs of ribs, Abnormality of femur morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the humerus, Abnormality of the metacarpal bones, Abnormality of the radius, Abnormality of tibia morphology, Absent radius, Accessory carpal bones, Aortic dilatation, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the ulna, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Beaking of vertebral bodies, Bipartite calcaneus, Block vertebrae, Brachydactyly, Broad distal phalanx of finger, Broad face, Broad nasal tip, Broad thumb, Bronchomalacia, C2-C3 subluxation, Carpal synostosis, Cataract, Cervical kyphosis, Cervical segmentation defect, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Club-shaped proximal femur, Clubbing, Conductive hearing impairment, Corneal opacity, Coronal cleft vertebrae, Cryptorchidism, Delayed skeletal maturation, Depressed nasal bridge, Dislocated wrist, Disproportionate short-trunk short stature, Distal tapering femur, Elbow dislocation, Encephalocele, Epiphyseal dysplasia, Fibular aplasia, Finger syndactyly, Flat acetabular roof, Flat face, Frontal bossing, Fused cervical vertebrae, Growth hormone deficiency, Hip dislocation, Hitchhiker thumb, Horizontal sacrum, Hydrops fetalis, Hyperlordosis, Hypertelorism, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Hypoplastic cervical vertebrae, Hypoplastic iliac body, Hypoplastic nasal septum, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Knee dislocation, Large joint dislocations, Laryngeal stenosis, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Mixed hearing impairment, Multinucleated giant chondrocytes in epiphyseal cartilage, Multiple carpal ossification centers, Narrow chest, Neonatal death, Omphalocele, Pectus carinatum, Pectus excavatum, Pes planus, Polyhydramnios, Poorly ossified vertebrae, Preauricular skin tag, Premature birth, Prominent forehead, Prominent occiput, Proptosis, Radial bowing, Rarefaction of retinal pigmentation, Renal cyst, Restrictive ventilatory defect, Rhizomelia, Sandal gap, Scoliosis, Severe short stature, Severe short-limb dwarfism, Shallow orbits, Short distal phalanx of finger, Short femur, Short humerus, Short metacarpal, Short metatarsal, Short nail, Short neck, Short nose, Short stature, Spatulate thumbs, Spina bifida occulta, Spinal cord compression, Spondylolysis, Sporadic, Stillbirth, Talipes equinovalgus, Talipes equinovarus, Tarsal synostosis, Thoracic platyspondyly, Tibial bowing, Tombstone-shaped proximal phalanges, Tracheal stenosis, Tracheomalacia, Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Widened distal phalanges
U1	SELM	2.265960253	0			
U1	DNAJB4	2.265253299	0	Heat shock protein	BrainSpLMD|11080	OMIM|611327
U1	IGFBP5	2.263480535	0	Adhesion molecule	BrainSpLMD|3488;Eurexp|euxassay_001623|limb, tail, vertebral axis muscle system;BrainSpMouseDev|15784	OMIM|146734
U1	DLC1	2.253010319	0	GTPase activating protein	BrainSpLMD|10395;Eurexp|euxassay_013403|axial skeleton, mandible, mantle layer, roof plate, trigeminal V, ventricular layer	OMIM|604258;HPO|10395|Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma
U1	SEMA4A	2.25136404	0	Cell surface receptor	BrainSpLMD|64218;BrainSpMouseDev|20114	OMIM|607292;HPO|64218|Abnormal electroretinogram, Abnormality of color vision, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Cone/cone-rod dystrophy, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Increased lacrimation, Intellectual disability, Keratoconus, Macular degeneration, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Peripheral visual field loss, Photophobia, Progressive night blindness, Progressive visual loss, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
U1	EBF1	2.246966286	0	Transcription factor	BrainSpLMD|1879;BrainSpMouseDev|13369	OMIM|164343;COSMIC||lipoma
U1	AL132709.8	2.242190898	0			
U1	COL2A1	2.239891943	0	Extracellular matrix protein	BrainSpLMD|1280;Eurexp|euxassay_013804|axial skeleton, cartilaginous ring, cricoid, floorplate, hindgut, mesenchyme, metanephros, midgut, nasal septum, oesophagus, otic capsule, phalanx, stomach, thyroid, turbinate bones, valve, ventricular layer;BrainSpMouseDev|12607	OMIM|120140;COSMIC||chondrosarcoma, enchondroma, Spondyloepiphyseal Dysplasia Congenita, Achondrogenesis Type II, Stickler Syndrome, Type I and others;HPO|1280|Abdominal distention, Abnormal cartilage collagen, Abnormal enchondral ossification, Abnormality of epiphysis morphology, Abnormality of fibula morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the abdominal wall, Abnormality of the carpal bones, Abnormality of the dentition, Abnormality of the foot, Abnormality of the metaphysis, Abnormality of the sternum, Abnormality of the vitreous humor, Abnormality of the wrist, Abnormality of ulnar metaphysis, Abnormality of vertebral epiphysis morphology, Absent styloid process of ulna, Absent vertebral body mineralization, Acetabular spurs, Anisospondyly, Anonychia, Anterior rib cupping, Anteverted nares, Aplasia/Hypoplasia of the capital femoral epiphysis, Aplasia/Hypoplasia of the lungs, Arachnodactyly, Arthralgia, Arthropathy, Aseptic necrosis, Asteroid hyalosis, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Avascular necrosis of the capital femoral epiphysis, Barrel-shaped chest, Beaking of vertebral bodies, Blindness, Brachydactyly, Broad forehead, Broad long bones, Broad palm, Broad thumb, Bulbous nose, C1-C2 subluxation, Cartilage destruction, Cataract, Cervical myelopathy, Cleft palate, Club-shaped proximal femur, Coarse facial features, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Coronal cleft vertebrae, Coxa valga, Coxa vara, Cystic hygroma, Decreased cranial base ossification, Delayed calcaneal ossification, Delayed epiphyseal ossification, Delayed gross motor development, Delayed pubic bone ossification, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Disc-like vertebral bodies, Disproportionate short stature, Disproportionate short-limb short stature, Disproportionate short-trunk short stature, Disproportionate tall stature, Dumbbell-shaped long bone, Edema, Enlarged joints, Enlarged thorax, Epiphyseal dysplasia, Exostoses, Femoral hernia, Flared metaphysis, Flat acetabular roof, Flat capital femoral epiphysis, Flat face, Flattened epiphysis, Flattened, squared-off epiphyses of tubular bones, Flexion contracture, Frontal bossing, Gait disturbance, Generalized hypotonia, Generalized joint laxity, Genu valgum, Genu varum, Glaucoma, Glossoptosis, Growth abnormality, Hearing impairment, Heberden's node, Hip contracture, Hip dislocation, Hip osteoarthritis, Horizontal ribs, Hydrops fetalis, Hyperlordosis, Hypertelorism, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Hypoplasia of the ulna, Hypoplastic ilia, Hypoplastic iliac wing, Hypoplastic ischia, Hypoplastic pelvis, Hypoplastic pubic bone, Hypoplastic scapulae, Inguinal hernia, Intervertebral space narrowing, Irregular femoral epiphysis, Irregular vertebral endplates, Joint dislocation, Joint hyperflexibility, Joint stiffness, Knee osteoarthritis, Kyphoscoliosis, Kyphosis, Large tarsal bones, Lethal skeletal dysplasia, Limb undergrowth, Limitation of joint mobility, Limitation of knee mobility, Limited elbow extension, Limited elbow movement, Limited hip movement, Long philtrum, Low-set ears, Lower limb asymmetry, Lumbar hyperlordosis, Lumbar kyphoscoliosis, Macrocephaly, Malar flattening, Metaphyseal cupping, Metaphyseal dappling, Metaphyseal dysplasia, Metaphyseal enchondromatosis, Metaphyseal irregularity, Metaphyseal widening, Micrognathia, Micromelia, Midface retrusion, Mild neurosensory hearing impairment, Mild short stature, Mitral valve prolapse, Mixed hearing impairment, Motor delay, Multiple enchondromatosis, Muscular hypotonia of the trunk, Myopia, Narrow chest, Narrow femoral neck, Narrow greater sacrosciatic notches, Narrow iliac wings, Narrow mouth, Neonatal short-limb short stature, Neonatal short-trunk short stature, Osteoarthritis, Ovoid vertebral bodies, Pectus carinatum, Pectus excavatum, Pes planus, Pierre-Robin sequence, Platyspondyly, Polyhydramnios, Premature osteoarthritis, Pretibial blistering, Prominent forehead, Prominent interphalangeal joints, Proptosis, Protuberant abdomen, Pugilistic facies, Pulmonary hypoplasia, Recurrent fractures, Recurrent otitis media, Recurrent pneumonia, Respiratory distress, Restrictive ventilatory defect, Retinal detachment, Retinal dysplasia, Retinal thinning, Retinopathy, Rhegmatogenous retinal detachment, Rhizomelia, Round face, Schmorl's node, Scoliosis, Sensorineural hearing impairment, Severe limb shortening, Severe platyspondyly, Severe short stature, Short distal phalanx of finger, Short distal phalanx of the 2nd finger, Short distal phalanx of the 3rd finger, Short distal phalanx of the 4th finger, Short distal phalanx of the 5th finger, Short femoral neck, Short femur, Short foot, Short long bone, Short metacarpal, Short metatarsal, Short neck, Short nose, Short palm, Short phalanx of finger, Short ribs, Short stature, Short thorax, Short thumb, Short toe, Short tubular bones of the hand, Shortening of all middle phalanges of the fingers, Shortening of all proximal phalanges of the fingers, Skeletal dysplasia, Skeletal muscle atrophy, Skin erosion, Splayed epiphyses, Spondyloepimetaphyseal dysplasia, Spondyloepiphyseal dysplasia, Spondylometaphyseal dysplasia, Stiff neck, Stillbirth, Submucous cleft soft palate, Talipes equinovarus, Thickened nuchal skin fold, Thin ribs, Thoracic kyphosis, Tracheomalacia, Type E brachydactyly, Umbilical hernia, Vertebral segmentation defect, Vitreoretinal degeneration, Waddling gait
U1	HIF3A	2.23633253	0	Transcription factor	BrainSpLMD|64344;BrainSpMouseDev|32897	OMIM|609976
U1	TMEM45A	2.235650904	0	Unclassified	BrainSpLMD|55076	OMIM|616928
U1	SDC2	2.234921353	0	Adhesion molecule	BrainSpLMD|6383;Eurexp|euxassay_002176|Meckel's cartilage, basioccipital bone, orbito-sphenoid, rib, temporal bone	SFARI||Autism, 4 - Minimal evidence;OMIM|142460
U1	ANXA5	2.226012193	0	Calcium binding protein	BrainSpLMD|308;Eurexp|euxassay_002158|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, meninges, renal/urinary system, reproductive system, respiratory system, tail	OMIM|131230
U1	COL6A2	2.220323646	0	Extracellular matrix protein	BrainSpLMD|1292	OMIM|120240;HPO|1292|Abnormality of the cardiovascular system, Abnormality of the palate, Achilles tendon contracture, Adducted thumb, Ankle contracture, Autosomal dominant inheritance, Autosomal recessive inheritance, Cachexia, Camptodactyly of finger, Congenital muscular dystrophy, Congenital muscular torticollis, Decreased fetal movement, Decreased pulmonary function, Diaphragmatic weakness, Distal muscle weakness, EMG abnormality, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated serum creatine phosphokinase, Esotropia, Facial palsy, Failure to thrive, Feeding difficulties in infancy, Flexion contracture, Follicular hyperkeratosis, Frequent falls, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, High palate, Hip dislocation, Hyperextensibility at wrists, Hyperhidrosis, Increased connective tissue, Increased endomysial connective tissue, Increased laxity of ankles, Increased laxity of fingers, Increased variability in muscle fiber diameter, Infantile onset, Joint laxity, Joint stiffness, Juvenile onset, Knee flexion contracture, Kyphosis, Limb-girdle muscle weakness, Long toe, Lumbar hyperlordosis, Micrognathia, Mildly elevated creatine phosphokinase, Motor delay, Muscle fiber necrosis, Myopathy, Neonatal hypotonia, Nocturnal hypoventilation, Pes valgus, Progressive, Protruding ear, Proximal muscle weakness, Recurrent lower respiratory tract infections, Respiratory failure, Respiratory insufficiency due to muscle weakness, Restricted neck movement due to contractures, Round face, Scoliosis, Short neck, Short stature, Skeletal muscle atrophy, Slender build, Slender finger, Slow progression, Spinal rigidity, Talipes equinovarus, Thoracolumbar scoliosis, Torticollis, Type 1 muscle fiber predominance, Variable expressivity
U1	CD99	2.212798617	0	Unclassified		OMIM|450000
U1	CCL2	2.205126221	0	Chemokine	BrainSpLMD|6347	OMIM|158105
U1	KIAA1217	2.203882157	0	Unclassified	BrainSpLMD|56243;Eurexp|euxassay_002039|ventricular layer	OMIM|617367
U1	PLOD2	2.201017272	0	Enzyme: Hydroxylase	BrainSpLMD|5352;Eurexp|euxassay_008722|axial skeleton, basisphenoid bone, clavicle, exoccipital bone, mesenchyme, nasal septum, otic capsule, petrous part, rib, sternum, tongue, trachea, turbinate	OMIM|601865;HPO|5352|Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Elbow flexion contracture, Femoral bowing, Flexion contracture, Hydroxyprolinuria, Increased susceptibility to fractures, Inguinal hernia, Joint stiffness, Knee flexion contracture, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes equinovarus, Triangular face, Wormian bones
U1	PLSCR4	2.200768573	0	Transport/cargo protein	BrainSpLMD|57088;Eurexp|euxassay_010505|oesophagus	OMIM|607612
U1	CSRNP1	2.197257512	0	Unclassified	BrainSpLMD|64651	OMIM|606458
U1	CNN2	2.196616421	0	Cytoskeletal associated protein	BrainSpLMD|1265	OMIM|602373
U1	S100A13	2.187913383	0	Calcium binding protein	BrainSpLMD|6284	OMIM|601989
U1	MDFIC	2.186451797	0	Unclassified	BrainSpLMD|29969;Eurexp|euxassay_013974|choroid invagination, choroid plexus	OMIM|614511
U1	TENM3	2.180553289	0	Integral membrane protein	BrainSpMouseDev|23716	OMIM|610083;HPO|55714|Autosomal recessive inheritance, Esotropia, Iris coloboma, Microcornea, Microphthalmia, Pendular nystagmus, Reduced visual acuity, Retinal detachment, Visual impairment
U1	TGFB3	2.172706495	0	Growth factor	BrainSpLMD|7043;BrainSpMouseDev|21568	OMIM|190230;HPO|7043|Abnormality of the iris, Aortic regurgitation, Arachnodactyly, Ascending aortic dissection, Autosomal dominant inheritance, Bifid uvula, Bilateral coxa valga, Blue sclerae, Cardiomegaly, Chest pain, Cleft palate, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Decreased muscle mass, Descending aortic dissection, Exertional dyspnea, Exotropia, Heterogeneous, Hiatus hernia, High palate, Hypertelorism, Hypertension, Hyporeflexia, Increased arm span, Inguinal hernia, Joint hypermobility, Kyphoscoliosis, Left ventricular failure, Mitral regurgitation, Paroxysmal dyspnea, Pectus carinatum, Pectus excavatum, Pes planus, Proptosis, Retrognathia, Right ventricular cardiomyopathy, Short stature, Small for gestational age, Sudden cardiac death, Tall stature, Ventricular arrhythmia
U1	THBS1	2.170088155	0	Extracellular matrix protein	BrainSpLMD|7057;Eurexp|euxassay_005711|axial skeleton, clavicle, cranium, footplate, handplate, left lung, lip, liver, mesenchyme, naris, rest of mesenchyme, right lung, sternum, turbinate bones	SFARI||Autism, No category;OMIM|188060
U1	LOXL1	2.154019742	0	Enzyme: Oxidase	BrainSpLMD|4016;BrainSpMouseDev|16719	OMIM|153456
U1	SERTAD1	2.144704076	0	Cell cycle control protein	BrainSpLMD|29950	
U1	PMP22	2.13917883	0	Integral membrane protein	BrainSpLMD|5376	OMIM|601097;HPO|5376|Abnormality of the immune system, Acute demyelinating polyneuropathy, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Childhood onset, Cold-induced muscle cramps, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Gait ataxia, Gait disturbance, Generalized hypotonia, Hammertoe, Hearing impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Increased CSF protein, Infantile onset, Insidious onset, Juvenile onset, Kyphoscoliosis, Motor delay, Muscle weakness, Myelin outfoldings, Onion bulb formation, Paresthesia, Pes cavus, Scoliosis, Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Sensory ataxia, Slow progression, Split hand, Steppage gait, Talipes calcaneovalgus, Ulnar claw, Upper limb postural tremor, Variable expressivity, Vocal cord paralysis
U1	GALNT10	2.13800966	0	Enzyme: Galactosyltransferase	BrainSpLMD|55568	OMIM|608043
U1	P4HB	2.133748634	0	Enzyme: Isomerase		OMIM|176790;HPO|5034|Abnormal form of the vertebral bodies, Abnormality of dental enamel, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the voice, Autosomal dominant inheritance, Blue sclerae, Bowing of the long bones, Communicating hydrocephalus, Coronal craniosynostosis, Crumpled long bones, Delayed eruption of teeth, Frontal bossing, High pitched voice, Intrauterine growth retardation, Kyphosis, Microdontia, Micrognathia, Midface retrusion, Muscular hypotonia, Orbital craniosynostosis, Osteopenia, Proptosis, Recurrent fractures, Scoliosis, Shallow orbits, Short stature, Skeletal dysplasia, Turricephaly, Vertebral compression fractures, Wormian bones
U1	PTN	2.133037055	0	Cytokine	BrainSpLMD|5764	OMIM|162095
U1	PLXDC2	2.131130033	0	Cell surface receptor	BrainSpLMD|84898;Eurexp|euxassay_002573|body-wall mesenchyme, choroid plexus, cochlear duct, diaphragm, epidermis, epithelium, humerus, mantle layer, submandibular gland primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|606827
U1	FCGRT	2.129406464	0	Cell surface receptor	BrainSpLMD|2217;Eurexp|euxassay_011956|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones	OMIM|601437
U1	TNS3	2.115122894	0	Integral membrane protein;Cell surface receptor	BrainSpLMD|64759;Eurexp|euxassay_014013|axial skeleton, ductus deferens, exoccipital bone, mandible, maxilla, mesenchyme, nasal septum, orbito-sphenoid, spleen primordium, trachea, turbinate, vibrissa	OMIM|606825
U1	LAMB2	2.109454158	0	Extracellular matrix protein	BrainSpLMD|3913	OMIM|150325;HPO|3913|Areflexia, Autosomal recessive inheritance, Blindness, Diffuse mesangial sclerosis, Edema, Generalized hypotonia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Hypoproteinemia, Myopia, Neonatal onset, Nephrotic syndrome, Nystagmus, Posterior lenticonus, Proteinuria, Stage 5 chronic kidney disease, Strabismus
U1	TBC1D4	2.105323847	0	GTPase activating protein	BrainSpLMD|9882	OMIM|612465
U1	C1orf54	2.102771853	0	Unclassified	BrainSpLMD|79630	
U1	PLD3	2.089161562	0	Enzyme: Phospholipase	BrainSpLMD|23646	OMIM|615698
U1	SNHG23	2.088166126	0			
U1	HAS2	2.085238713	0	Enzyme: Glycosyltransferase	BrainSpLMD|3037	OMIM|601636
U1	ADD3	2.083514576	0	Cytoskeletal associated protein	BrainSpLMD|120;Eurexp|euxassay_002919|chondrocranium, epithelium, glandular mucous membrane, lumen, mantle layer, pancreas, ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|601568;HPO|120|Abnormal pyramidal signs, Autosomal recessive inheritance, Cognitive impairment, Dysphagia, Exotropia, Global developmental delay, Infantile onset, Microcephaly, Nystagmus, Poor speech, Spastic diplegia, Spastic tetraplegia, Supranuclear gaze palsy, Variable expressivity
U1	MEG8	2.072127284	0			OMIM|613648
U1	SPTY2D1	2.058369479	0	Unclassified	BrainSpLMD|144108	
U1	ZNF521	2.053492461	0	Transcription regulatory protein	BrainSpLMD|25925;BrainSpMouseDev|86218	OMIM|610974;COSMIC||ALL
U1	MATN2	2.04932397	0	Extracellular matrix protein	BrainSpLMD|4147;Eurexp|euxassay_004287|choroid invagination, choroid plexus, meninges, mesenchyme, roof plate	OMIM|602108
U1	ADAMTS9	2.046902901	0	Metallo protease	BrainSpLMD|56999	OMIM|605421
U1	FKBP9	2.040852155	0	Chaperone	BrainSpLMD|11328;Eurexp|euxassay_007465|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, metatarsus, nasal septum, nucleus pulposus, orbito-sphenoid, otic capsule, phalanx, radius, rib, sternum, temporal bone, thyroid, tibia, turbinate, ulna, vault of skull	OMIM|616257;COSMIC||glioma
U1	RARB	2.038420997	0	Nuclear receptor	BrainSpLMD|5915;Eurexp|euxassay_000777|bladder, calyces, dorsal grey horn, foregut-midgut junction, hindgut, incisor, limb, mantle layer, midgut, molar, nasal capsule, oesophagus, olfactory, stomach, urethra;BrainSpMouseDev|85409	OMIM|180220;HPO|5915|Anophthalmia, Autosomal dominant inheritance, Autosomal recessive inheritance, Bicornuate uterus, Broad nasal tip, Congenital diaphragmatic hernia, Micrognathia, Microphthalmia, Pulmonary hypoplasia, Retrognathia, Wide nasal bridge
U1	EPB41L2	2.038238592	0	Cytoskeletal protein	BrainSpLMD|2037;Eurexp|euxassay_010082|calyces, clavicle, femur, fibula, fundus region, lens, lung, mandible, maxilla, meninges, olfactory, orbito-sphenoid, pelvis, rib, roof plate, tibia, ureter	OMIM|603237
U1	SLIT2	2.017796792	0	Ligand	BrainSpLMD|9353;BrainSpMouseDev|20325	OMIM|603746
U1	TULP2	2.006561705	0	Transcription regulatory protein	BrainSpLMD|7288	OMIM|602309
U1	CERCAM	1.99761566	0	Adhesion molecule	BrainSpLMD|51148;Eurexp|euxassay_009013|clavicle, mandible, maxilla, orbito-sphenoid, ventral grey horn, ventricular layer	OMIM|616626
U1	FAT4	1.989090135	0	Adhesion molecule	BrainSpLMD|79633	OMIM|612411;COSMIC||lymphoma, pancreatic, head and neck, melanoma, hepatocellular carcinoma, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2;HPO|79633|Atresia of the external auditory canal, Autosomal recessive inheritance, Bifid scrotum, Blepharophimosis, Clinodactyly, Conductive hearing impairment, Congenital onset, Cryptorchidism, Cutaneous finger syndactyly, Dental malocclusion, Downturned corners of mouth, Epicanthus, Feeding difficulties, Generalized hypotonia, Growth delay, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypospadias, Intellectual disability, Irregular dentition, Joint laxity, Malar flattening, Micrognathia, Micropenis, Microtia, Midface retrusion, Narrow chest, Narrow forehead, Osteopenia, Ptosis, Renal hypoplasia, Sacral dimple, Scoliosis, Sensorineural hearing impairment, Short 4th metacarpal, Short clavicles, Short fourth metatarsal, Short palpebral fissure, Skeletal dysplasia, Talipes equinovarus, Tented upper lip vermilion, Tracheomalacia, Wide anterior fontanel, Wide cranial sutures, Wide nasal bridge
U1	TMEM173	1.981991569	0	Unclassified	BrainSpLMD|340061	OMIM|612374;HPO|340061|Anemia, Autosomal dominant inheritance, Cutis marmorata, Elevated erythrocyte sedimentation rate, Erythema, Failure to thrive, Fever, Follicular hyperplasia, Growth delay, Increased antibody level in blood, Interstitial pulmonary abnormality, Leukopenia, Malar rash, Nail dystrophy, Neonatal onset, Pustule, Recurrent respiratory infections, Telangiectasia, Thrombocytosis, Variable expressivity
U1	ID3	1.979915105	0	Transcription regulatory protein	BrainSpLMD|3399;BrainSpMouseDev|15676	OMIM|600277;COSMIC||Burkitt lymphoma
U1	PRKG1	1.97285841	0	Serine/threonine kinase	BrainSpLMD|5592;Eurexp|euxassay_009525|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, hindgut, mantle layer, midgut, stomach, trigeminal V, turbinate bones, ventral grey horn, vestibulocochlear VIII	OMIM|176894;HPO|5592|Abnormality of the iris, Aortic regurgitation, Ascending aortic dissection, Autosomal dominant inheritance, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Dilatation of the thoracic aorta, Exertional dyspnea, Hypertension, Left ventricular failure, Paroxysmal dyspnea
U1	MBNL2	1.96668341	0	RNA binding protein	BrainSpLMD|10150;Eurexp|euxassay_005986|cerebral cortex, dorsal root ganglion, embryo, forebrain, glossopharyngeal IX, lung, midbrain, oesophagus, trigeminal V, vagus X	OMIM|607327
U1	UAP1	1.963703407	0	Enzyme: Phosphorylase	BrainSpLMD|6675	OMIM|602862
U1	LDHA	1.956436702	0	Enzyme: Dehydrogenase	BrainSpLMD|3939	OMIM|150000;HPO|3939|Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise intolerance, Increased serum lactate, Increased serum pyruvate, Juvenile onset, Muscle cramps, Muscle stiffness, Myalgia, Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Rigidity
U1	SLC7A8	1.947855023	0	Membrane transport protein	BrainSpLMD|23428;Eurexp|euxassay_008218|renal/urinary system	OMIM|604235
U1	ARL1	1.946408516	0	GTPase	BrainSpLMD|400	OMIM|603425
U1	HLA.E	1.945826998	0			
U1	GAS1	1.940824037	0	Cell cycle control protein	BrainSpLMD|2619;BrainSpMouseDev|14227	OMIM|139185
U1	MYC	1.939998539	0	Transcription factor	BrainSpLMD|4609;Eurexp|euxassay_018236|anterior, axial muscle, clavicle, corpus striatum, cortex, external, frontal bone primordium, mandible, marginal layer, maxilla, midgut, nasal septum, orbito-sphenoid, palatal shelf, pancreas, parietal bone, submandibular gland primordium, thymus primordium, vibrissa;BrainSpMouseDev|17636	OMIM|190080;COSMIC||Burkitt lymphoma, amplified in other cancers, B-CLL;HPO|4609|Abnormal lactate dehydrogenase activity, Burkitt lymphoma, Hyperuricemia, Neoplasm of the oral cavity, Sporadic
U1	LAMC1	1.939128394	0	Extracellular matrix protein	BrainSpLMD|3915	OMIM|150290
U1	PDGFRB	1.937303327	0	Receptor tyrosine kinase	BrainSpLMD|5159;BrainSpMouseDev|18362	OMIM|173410;COSMIC||MPN, AML, CMML, CML;HPO|5159|Abnormality of connective tissue, Abnormality of neuronal migration, Abnormality of the hair, Abnormality of the metaphysis, Abnormality of the musculature, Abnormality of the skull, Abnormality of the thorax, Adult onset, Athetosis, Autosomal dominant inheritance, Basal ganglia calcification, Bone cyst, Brachydactyly, Bradykinesia, Calcification of the small brain vessels, Cerebral calcification, Chondrocalcinosis, Chorea, Corneal opacity, Delayed cranial suture closure, Delayed eruption of teeth, Delayed skeletal maturation, Dense calcifications in the cerebellar dentate nucleus, Depressivity, Downslanted palpebral fissures, Dysarthria, Dysdiadochokinesis, Dystonia, Eosinophilia, Fibroma, Fragile skin, Gait disturbance, Gingival fibromatosis, Growth abnormality, Hepatomegaly, Hyperextensible skin, Hyperkeratosis, Hypermetropia, Hyperreflexia, Hypoplasia of the maxilla, Increased thyroid-stimulating hormone level, Intrauterine growth retardation, Limb dysmetria, Lipoatrophy, Long foot, Malignant eosinophil proliferation, Mask-like facies, Memory impairment, Mental deterioration, Microcephaly, Micrognathia, Midface retrusion, Myeloproliferative disorder, Narrow nose, Neoplasm of the lung, Neoplasm of the skin, Osteolytic defects of the phalanges of the hand, Osteopenia, Overgrowth, Parkinsonism, Pointed chin, Postural instability, Progressive, Progressive neurologic deterioration, Prominent forehead, Prominent nasal bridge, Prominent supraorbital ridges, Proptosis, Psychosis, Ptosis, Rigidity, Seizures, Sensorineural hearing impairment, Slender long bone, Sparse hair, Subcutaneous hemorrhage, Subcutaneous nodule, Thin calvarium, Thin skin, Thin upper lip vermilion, Thin vermilion border, Thoracolumbar scoliosis, Thrombocytopenia, Tremor, Urinary incontinence, Ventriculomegaly, Wide nasal bridge
U1	PTGIS	1.934939187	0	Enzyme: Ligase	BrainSpLMD|5740;Eurexp|euxassay_004313|clavicle, diaphragm, mandible, maxilla, mesenchyme, penis, rib, tongue, vertebral axis muscle system	OMIM|601699;HPO|5740|Elevated diastolic blood pressure, Elevated mean arterial pressure, Elevated systolic blood pressure, Multifactorial inheritance
U1	EFNA5	1.916287317	0	Ligand	BrainSpLMD|1946;BrainSpMouseDev|13418	OMIM|601535
U1	LAMB1	1.915683196	0	Extracellular matrix protein	BrainSpLMD|3912;Eurexp|euxassay_011018|cochlea, incisor, lung, meninges, metanephros, midgut, molar, pharyngo-tympanic tube, renal/urinary system, sublingual gland primordium, submandibular gland primordium, vibrissa;BrainSpMouseDev|16549	SFARI||Autism, 3 - Suggestive evidence;OMIM|150240;HPO|3912|Abnormality of the cerebral white matter, Autosomal recessive inheritance, Cerebellar hypoplasia, Generalized hypotonia, Gray matter heterotopias, Hydrocephalus, Hypoplasia of the brainstem, Intellectual disability, Leukoencephalopathy, Macrocephaly, Muscular hypotonia, Occipital encephalocele, Porencephalic cyst, Progressive, Seizures, Severe global developmental delay, Spastic paraplegia, Type II lissencephaly, Variable expressivity
U1	SERPINH1	1.915488651	0	Heat shock protein	BrainSpLMD|871	OMIM|600943;HPO|871|Autosomal recessive inheritance, Blue sclerae, Broad ribs, Chronic lung disease, Dentinogenesis imperfecta, Generalized hypotonia, Generalized joint laxity, Genu valgum, High forehead, High pitched voice, Inguinal hernia, Joint laxity, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Narrow chest, Narrow forehead, Nephrolithiasis, Osteopenia, Platyspondyly, Prominent forehead, Pyloric stenosis, Relative macrocephaly, Scoliosis, Shallow orbits, Short stature, Thin ribs, Triangular face, Vertebral compression fractures
U1	CTD.3252C9.4	1.901750542	0			
U1	HSPG2	1.899571041	0	Extracellular matrix protein	BrainSpLMD|3339	OMIM|142461;HPO|3339|Abnormal vertebral ossification, Abnormality of epiphysis morphology, Abnormality of femoral epiphysis, Abnormality of pelvic girdle bone morphology, Abnormality of the abdominal wall, Abnormality of the eyebrow, Abnormality of the metaphysis, Abnormality of the pharynx, Anisospondyly, Anterior bowing of long bones, Arthrogryposis multiplex congenita, Atrial septal defect, Autosomal recessive inheritance, Blepharophimosis, Blue sclerae, Bowing of the long bones, Calvarial skull defect, Cataract, Cleft palate, Congenital hip dislocation, Coronal cleft vertebrae, Coxa valga, Coxa vara, Cryptorchidism, Decreased testicular size, Delayed skeletal maturation, Depressed nasal ridge, Disproportionate short-limb short stature, EMG abnormality, Elevated aldolase level, Elevated serum creatine phosphokinase, Everted lower lip vermilion, Flat face, Flexion contracture of toe, Full cheeks, Gait disturbance, Generalized hirsutism, Genu valgum, High palate, High pitched voice, Hip contracture, Hip dysplasia, Hyperlordosis, Hypertonia, Hyporeflexia, Inguinal hernia, Intellectual disability, Joint contracture of the hand, Joint stiffness, Kyphoscoliosis, Kyphosis, Long eyelashes in irregular rows, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Malar flattening, Malignant hyperthermia, Mask-like facies, Metaphyseal widening, Metatarsus valgus, Microcornea, Micrognathia, Micromelia, Muscle weakness, Myopathy, Myopia, Myotonia, Narrow chest, Narrow mouth, Neonatal death, Osteoporosis, Overfolded helix, Overgrowth, Pectus carinatum, Pes planus, Platyspondyly, Posteriorly rotated ears, Prominent nasal bridge, Ptosis, Pulmonary hypoplasia, Pursed lips, Respiratory insufficiency, Scoliosis, Short long bone, Short neck, Short stature, Shoulder flexion contracture, Skeletal dysplasia, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Spinal rigidity, Strabismus, Talipes equinovarus, Thoracic hypoplasia, Trismus, Umbilical hernia, Visual impairment, Weak voice, Wide nasal bridge, Wrist flexion contracture
U1	UGDH	1.899220808	0	Enzyme: Dehydrogenase	BrainSpLMD|7358	OMIM|603370
U1	LMNA	1.886304658	0	Structural protein	BrainSpLMD|4000;Eurexp|euxassay_000214|atrio-ventricular cushion tissue, mesenchyme, rest of skin	OMIM|150330;COSMIC||Spitzoid tumour, Muscular dystrophy, dilated cardiomyopathy, familial partial lipodystrophy, and others;HPO|4000|Abnormal atrioventricular conduction, Abnormal cellular phenotype, Abnormal electrophysiology of sinoatrial node origin, Abnormal hair whorl, Abnormal trabecular bone morphology, Abnormality of circulating leptin level, Abnormality of retinal pigmentation, Abnormality of the Achilles tendon, Abnormality of the cerebral vasculature, Abnormality of the eyebrow, Abnormality of the foot, Abnormality of the intrahepatic bile duct, Abnormality of the nail, Abnormality of the pinna, Abnormality of the pulmonary artery, Abnormality of the testis, Abnormality of the voice, Absence of pubertal development, Absence of subcutaneous fat, Absent eyebrow, Absent eyelashes, Acanthosis nigricans, Accelerated atherosclerosis, Achilles tendon contracture, Acroosteolysis of distal phalanges (feet), Acute pancreatitis, Adipose tissue loss, Adrenal hypoplasia, Advanced eruption of teeth, Alopecia, Alopecia universalis, Aminoaciduria, Angina pectoris, Aortic atherosclerosis, Aortic root dilatation, Aortic valve calcification, Aortic valve stenosis, Aplasia of the middle phalanx of the hand, Aplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Aplastic clavicles, Areflexia, Arrhythmia, Arteriosclerosis of small cerebral arteries, Arthrogryposis multiplex congenita, Atherosclerosis, Atrial fibrillation, Atrial flutter, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Axial muscle weakness, Axonal degeneration/regeneration, Basal cell carcinoma, Bilateral coxa valga, Bird-like facies, Blepharophimosis, Brachydactyly, Bradycardia, Broad-based gait, Calcinosis, Calf muscle hypertrophy, Choanal atresia, Chondrocalcinosis, Clinodactyly, Congenital muscular dystrophy, Congenital pseudoarthrosis of the clavicle, Congestive heart failure, Convex nasal ridge, Coronary artery disease, Coronary atherosclerosis, Craniofacial disproportion, Cyanosis, Decreased adiponectin level, Decreased calvarial ossification, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Decreased circulating high-density lipoprotein levels, Decreased fertility, Decreased fetal movement, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Decreased serum estradiol, Decreased serum leptin, Decreased skull ossification, Decreased testosterone in males, Delayed cranial suture closure, Delayed eruption of teeth, Delayed puberty, Dental crowding, Dermal atrophy, Dermal translucency, Diabetes mellitus, Difficulty climbing stairs, Difficulty walking, Dilated cardiomyopathy, Distal amyotrophy, Distal lower limb amyotrophy, Distal muscle weakness, Distal sensory impairment, Down-sloping shoulders, Downslanted palpebral fissures, EMG abnormality, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated serum creatine phosphokinase, Emphysema, Enlarged peripheral nerve, Entropion, Epidermal hyperkeratosis, Failure to thrive, Fasting hyperinsulinemia, Feeding difficulties, Flexion contracture, Foot dorsiflexor weakness, Fragile nails, Full cheeks, Gait disturbance, Generalized amyotrophy, Generalized hyperkeratosis, Generalized lipodystrophy, Generalized osteoporosis, Global developmental delay, Glucose intolerance, Glycosuria, Growth delay, Hepatic steatosis, Hepatomegaly, Heterogeneous, High palate, High pitched voice, Hirsutism, Hydropic placenta, Hypercholesterolemia, Hyperglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hyperkeratosis, Hyperlipidemia, Hyperlordosis, Hypermetropia, Hyperphosphatemia, Hypertelorism, Hypertension, Hypertriglyceridemia, Hypodontia, Hypogonadism, Hypogonadotrophic hypogonadism, Hypohidrosis, Hypoplasia of teeth, Hypoplastic facial bones, Hypoplastic nipples, Hyporeflexia, Hypospadias, Hypotrichosis, Increased adipose tissue around the neck, Increased anterioposterior diameter of thorax, Increased facial adipose tissue, Increased intraabdominal fat, Increased intramuscular fat, Infertility, Insulin resistance, Insulin-resistant diabetes mellitus, Intermittent claudication, Intervertebral disc degeneration, Intracranial hemorrhage, Intrauterine growth retardation, Joint stiffness, Juvenile onset, Keratoconjunctivitis sicca, Kyphoscoliosis, Kyphosis, Labial pseudohypertrophy, Lack of skin elasticity, Large fontanelles, Laryngomalacia, Limb muscle weakness, Limb-girdle muscle weakness, Limb-girdle muscular dystrophy, Limitation of joint mobility, Lipoatrophy, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Loss of truncal subcutaneous adipose tissue, Low-set ears, Macrotia, Malar flattening, Meningioma, Metaphyseal widening, Micrognathia, Midface retrusion, Mildly elevated creatine phosphokinase, Minimal subcutaneous fat, Mitral regurgitation, Mitral valve calcification, Motor delay, Mottled pigmentation, Multiple joint contractures, Muscle hypertrophy of the lower extremities, Muscular dystrophy, Muscular hypotonia, Myalgia, Myocardial infarction, Myopathy, Nail dysplasia, Narrow face, Narrow mouth, Narrow nasal ridge, Narrow nasal tip, Nasal speech, Natal tooth, Neck muscle weakness, Neoplasm of the breast, Neoplasm of the lung, Neoplasm of the oral cavity, Neoplasm of the skin, Neoplasm of the small intestine, Neoplasm of the thyroid gland, Onion bulb formation, Onset, Osteoarthritis, Osteolysis, Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the phalanges of the hand, Osteopenia, Osteoporosis, Osteosarcoma, Ovarian neoplasm, Overtubulated long bones, Ovoid vertebral bodies, Papillary renal cell carcinoma, Patchy hypo- and hyperpigmentation, Patent ductus arteriosus, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Pericardial effusion, Peripheral arterial stenosis, Peripheral axonal atrophy, Peroneal muscle atrophy, Peroneal muscle weakness, Pes cavus, Pes planus, Pili torti, Polycystic ovaries, Polyhydramnios, Poor head control, Postnatal growth retardation, Precocious atherosclerosis, Precocious puberty, Premature arteriosclerosis, Premature birth, Premature coronary artery disease, Premature delivery because of cervical insufficiency or membrane fragility, Premature graying of hair, Premature loss of teeth, Premature ovarian insufficiency, Premature rupture of membranes, Premature skin wrinkling, Primary atrial arrhythmia, Progeroid facial appearance, Progressive, Progressive clavicular acroosteolysis, Prolonged prothrombin time, Prominent forehead, Prominent scalp veins, Prominent superficial blood vessels, Prominent superficial veins, Proptosis, Proximal muscle weakness, Proximal upper limb muscle hypertrophy, Ptosis, Pulmonary carcinoid tumor, Pulmonary hypoplasia, Reduced subcutaneous adipose tissue, Renal neoplasm, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Restricted neck movement due to contractures, Reticulated skin pigmentation, Retinal degeneration, Retrognathia, Rocker bottom foot, Round face, Scaling skin, Scapular winging, Scleroderma, Sclerosis of hand bone, Secondary amenorrhea, Sensorineural hearing impairment, Severe muscular hypotonia, Short clavicles, Short distal phalanx of finger, Short nail, Short palm, Short palpebral fissure, Short stature, Short umbilical cord, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Skin erosion, Skin ulcer, Slow progression, Small placenta, Sparse and thin eyebrow, Sparse body hair, Sparse eyebrow, Sparse eyelashes, Sparse hair, Sparse or absent eyelashes, Sparse scalp hair, Spinal rigidity, Squamous cell carcinoma of the skin, Steppage gait, Stiff skin, Stillbirth, Structural foot deformity, Subcutaneous calcification, Submucous cleft hard palate, Sudden cardiac death, Supraventricular arrhythmia, Syndactyly, Talipes, Tapering pointed ends of distal finger phalanges, Telangiectasia of the skin, Telecanthus, Temporomandibular joint ankylosis, Thin bony cortex, Thin clavicles, Thin nail, Thin ribs, Thin skin, Thin vermilion border, Thrombocytosis, Type II diabetes mellitus, Upper limb muscle weakness, Ureteral duplication, Variable expressivity, Ventricular arrhythmia, Ventricular hypertrophy, White forelock, Wide nasal bridge, Widely patent fontanelles and sutures, Wormian bones, X-linked inheritance, Xanthomatosis
U1	DDX3Y	1.864588538	0	RNA binding protein	BrainSpLMD|8653	OMIM|400010;HPO|8653|Azoospermia, Decreased testicular size, Male infertility, Non-obstructive azoospermia, Oligospermia, Y-linked inheritance
U1	ITM2A	1.862754831	0	Integral membrane protein	BrainSpLMD|9452	OMIM|300222
U1	IL6ST	1.862668021	0	Cytokine receptor	BrainSpLMD|3572;BrainSpMouseDev|15968	OMIM|600694;COSMIC||hepatocellular carcinoma
U1	ITM2C	1.849133713	0	Integral membrane protein	BrainSpLMD|81618	OMIM|609554
U1	MYL12A	1.841806776	0	Calcium binding protein	BrainSpLMD|10627	
U1	SPG20	1.840651042	0			
U1	RNU6.118P	1.831276225	0			
U1	FGFR1	1.820683849	0	Receptor tyrosine kinase	BrainSpLMD|2260;BrainSpMouseDev|13959	OMIM|136350;COSMIC||MPN, NHL, salivary adenoma, Pfeiffer syndrome, Kallman syndrome;HPO|2260|2-3 toe syndactyly, Abnormal form of the vertebral bodies, Abnormality of body height, Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Abnormality of the clavicle, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Absent septum pellucidum, Agenesis of corpus callosum, Alopecia, Anosmia, Anterior hypopituitarism, Anterior pituitary hypoplasia, Anteverted nares, Anxiety, Aphasia, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Arachnoid cyst, Arnold-Chiari malformation, Atrial septal defect, Autosomal dominant inheritance, Bicoronal synostosis, Bimanual synkinesia, Bone cyst, Bowing of the long bones, Brachycephaly, Brachyturricephaly, Breast hypoplasia, Broad foot, Broad hallux, Broad hallux phalanx, Broad metacarpals, Broad metatarsal, Broad palm, Broad phalanx, Broad thumb, Bronchomalacia, Calcaneonavicular fusion, Capillary hemangiomas, Cartilaginous trachea, Cerebellar hypoplasia, Cerebral calcification, Cerebral cortical atrophy, Choanal atresia, Choanal stenosis, Chordee, Cleft eyelid, Cleft palate, Cleft upper lip, Cloverleaf skull, Corneal opacity, Coronal craniosynostosis, Cortical dysplasia, Craniofacial hyperostosis, Craniosynostosis, Cryptorchidism, Dandy-Walker malformation, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Depressivity, Diabetes insipidus, Downslanted palpebral fissures, Dysphasia, Echolalia, Ectrodactyly, Elbow ankylosis, Encephalocele, Epibulbar dermoid, Epicanthus, Erectile abnormalities, Eunuchoid habitus, Failure to thrive, Failure to thrive in infancy, Female hypogonadism, Finger syndactyly, Frontal bossing, Global developmental delay, Gonadotropin deficiency, Gynecomastia, Hallux varus, Hemiplegia/hemiparesis, Heterogeneous, High forehead, High palate, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hypernatremia, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the frontal bone, Hypoplasia of the iris, Hypoplasia of the maxilla, Hypoplasia of the ovary, Hypoplasia of the uterus, Hypoplastic scapulae, Hypoplastic toenails, Hyposmia, Hypospadias, Hypotelorism, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Incomplete penetrance, Increased female libido, Increased susceptibility to fractures, Inguinal hernia, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Limb undergrowth, Linear hyperpigmentation, Lipodystrophy, Lipoma, Lipomas of the central neryous system, Lobar holoprosencephaly, Long penis, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hemivertebrae, Macrocephaly, Malar flattening, Male hypogonadism, Mandibular prognathia, Meckel diverticulum, Microcephaly, Microdontia, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Multiple lipomas, Multiple unerupted teeth, Muscle stiffness, Mutism, Nasal obstruction, Neonatal hypotonia, Neoplasm of the skeletal system, Nevus flammeus, Non-midline cleft lip, Non-obstructive azoospermia, Nystagmus, Oligodontia, Omphalocele, Osteolysis, Osteopenia, Osteoporosis, Pelvic kidney, Peripheral pulmonary artery stenosis, Platyspondyly, Posteriorly rotated ears, Preauricular skin tag, Primary amenorrhea, Prominent supraorbital ridges, Proptosis, Protruding ear, Pseudoarthrosis, Ptosis, Pulmonary arterial hypertension, Reduced bone mineral density, Reduced number of teeth, Respiratory distress, Respiratory insufficiency, Retinopathy, Rhizomelia, Rigidity, Sclerocornea, Secondary amenorrhea, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Severe short stature, Shallow orbits, Short foot, Short hallux, Short metacarpal, Short metatarsal, Short middle phalanx of toe, Short neck, Short nose, Short palm, Short phalanx of finger, Short stature, Shortening of all middle phalanges of the fingers, Somatic mosaicism, Sparse body hair, Spasticity, Split hand, Sporadic, Strabismus, Subcortical cerebral atrophy, Subcutaneous lipoma, Subcutaneous nodule, Subvalvular aortic stenosis, Syndactyly, Synophrys, Telecanthus, Toe syndactyly, Tricuspid valve prolapse, Trigonocephaly, Unerupted tooth, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide intermamillary distance, Wide nasal bridge, Wide nose, Xanthomatosis
U1	TMEM263	1.799103059	0	Integral membrane protein	BrainSpLMD|90488	
U1	BOC	1.796909182	0	Cell surface receptor	BrainSpLMD|91653;Eurexp|euxassay_005272|intermediate grey horn, mantle layer, marginal layer, mesenchyme, trachea, ventricular layer;BrainSpMouseDev|78669	OMIM|608708
U1	INHBA	1.796310096	0	Ligand	BrainSpLMD|3624;Eurexp|euxassay_003294|axial skeleton, cranium, forelimb, hindlimb, incisor, mantle layer, molar, naris, nasopharynx, orbito-sphenoid, penis, pharyngo-tympanic tube, respiratory, rib, skeleton, trachea, vibrissa;BrainSpMouseDev|16096	OMIM|147290
U1	CD164	1.795760662	0	Adhesion molecule	Eurexp|euxassay_019262|epithelium, incisor, lung, molar, nucleus pulposus, olfactory, orbito-sphenoid, pancreas, pituitary, skeletal muscle, thymus primordium, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|32917	OMIM|603356;HPO|8763|Autosomal dominant inheritance, Sensorineural hearing impairment, Variable expressivity
U1	LMAN1	1.794993254	0	Chaperone	BrainSpLMD|3998	OMIM|601567;HPO|3998|Abnormal bleeding, Autosomal recessive inheritance, Reduced factor V activity, Reduced factor VIII activity
U1	JUNB	1.784769104	0	Transcription factor	BrainSpLMD|3726	OMIM|165161
U1	FKBP7	1.781655469	0	Calcium binding protein	BrainSpLMD|51661;Eurexp|euxassay_002949|Meckel's cartilage, axial skeleton, chondrocranium, incisor, molar, orbito-sphenoid, rib	OMIM|607062
U1	ATL3	1.781602614	0	Unclassified	BrainSpLMD|25923;Eurexp|euxassay_001705|orbito-sphenoid, ventricular layer	OMIM|609369;HPO|25923|Autosomal dominant inheritance, Hallux valgus, Hyperkeratosis, Hyporeflexia of lower limbs, Osteolytic defects of the phalanges of the hand, Osteomyelitis, Sensory axonal neuropathy
U1	TSPO	1.779390183	0	Integral membrane protein	BrainSpLMD|706;Eurexp|euxassay_005714|liver	OMIM|109610
U1	TXLNA	1.774466145	0	Unclassified	BrainSpLMD|200081;Eurexp|euxassay_005956|embryo	OMIM|608676
U1	MT.RNR1	1.759542144	0			
U1	VIM	1.756928239	0	Cytoskeletal protein	BrainSpLMD|7431	OMIM|193060;HPO|7431|Autosomal dominant inheritance, Congenital onset, Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract
U1	OSTC	1.751044917	0	Integral membrane protein	BrainSpLMD|58505;Eurexp|euxassay_003969|Meckel's cartilage, clavicle, cranium, rib, turbinate	
U1	GSTM1	1.750303226	0	Enzyme: Glutathione transferase	BrainSpLMD|2944	SFARI||Autism, 4 - Minimal evidence;OMIM|138350
U1	TES	1.741541152	0	Secreted polypeptide	BrainSpLMD|26136;Eurexp|euxassay_004840|adenohypophysis, brain, dorsal root ganglion, extrinsic ocular muscle, facial VII, hindgut, humerus, incisor, left lung, loop, medullary stroma, midgut, molar, neural retina, oesophagus, pituitary, rectum, right lung, spinal cord, stomach, stroma, submandibular gland primordium, thymus primordium, trachea, trigeminal V, vagus X, vibrissa	OMIM|606085
U1	NAMPT	1.739768319	0	Cytokine	BrainSpLMD|10135;Eurexp|euxassay_004817|axial muscle	OMIM|608764
U1	COL6A1	1.737405525	0	Extracellular matrix protein	BrainSpLMD|1291;BrainSpMouseDev|12616	OMIM|120220;HPO|1291|Abnormality of the cardiovascular system, Abnormality of the palate, Adducted thumb, Ankle contracture, Autosomal dominant inheritance, Autosomal recessive inheritance, Cachexia, Camptodactyly of finger, Congenital muscular dystrophy, Congenital muscular torticollis, Decreased fetal movement, Diaphragmatic weakness, Distal muscle weakness, EMG abnormality, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated serum creatine phosphokinase, Esotropia, Facial palsy, Failure to thrive, Feeding difficulties in infancy, Flexion contracture, Follicular hyperkeratosis, Frequent falls, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, High palate, Hip dislocation, Hyperextensibility at wrists, Hyperhidrosis, Increased endomysial connective tissue, Increased laxity of ankles, Increased laxity of fingers, Increased variability in muscle fiber diameter, Infantile onset, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphosis, Limb-girdle muscle weakness, Long toe, Micrognathia, Mildly elevated creatine phosphokinase, Motor delay, Muscle fiber necrosis, Myopathy, Neonatal hypotonia, Nocturnal hypoventilation, Pes valgus, Progressive, Protruding ear, Proximal muscle weakness, Recurrent lower respiratory tract infections, Respiratory failure, Respiratory insufficiency due to muscle weakness, Round face, Scoliosis, Short neck, Skeletal muscle atrophy, Slender build, Slender finger, Slow progression, Spinal rigidity, Talipes equinovarus, Torticollis, Type 1 muscle fiber predominance, Variable expressivity
U1	KDELR2	1.736764792	0	Transport/cargo protein	BrainSpLMD|11014;Eurexp|euxassay_004155|axial skeleton, cervical region, clavicle, cranium, femur, fibula, footplate, handplate, humerus, leg, lumbar region, mandible, orbito-sphenoid, otic capsule, palatal shelf, radius, rib, sacral region, sternum, thoracic region, tibia, turbinate bones, ulna	OMIM|609024
U1	BCAT1	1.730707982	0	Enzyme: Aminotransferase	BrainSpLMD|586;Eurexp|euxassay_010499|brain, clavicle, facial VII, incisor, mandible, nasal septum, neural retina, orbito-sphenoid, rib, spinal cord, tongue, trigeminal V, turbinate bones;BrainSpMouseDev|11821	OMIM|113520
U1	TEAD3	1.72797254	0	Transcription factor	BrainSpLMD|7005;BrainSpMouseDev|21439	OMIM|603170
U1	SERPING1	1.727693076	0	Protease inhibitor	BrainSpLMD|710	OMIM|606860;HPO|710|Abdominal pain, Abnormality of salivation, Abnormality of the larynx, Angioedema, Autoimmunity, Autosomal dominant inheritance, Dermatographic urticaria, Diarrhea, Dysphagia, Edema of the dorsum of hands, Erythema, Facial edema, Intestinal edema, Laryngeal edema, Limbal edema, Nausea, Paresthesia, Peripheral axonal neuropathy, Pharyngeal edema, Systemic lupus erythematosus, Tongue edema, Vomiting
U1	CD63	1.727351447	0	Integral membrane protein	BrainSpLMD|967	OMIM|155740
U1	RREB1	1.725234818	0	Transcription factor	BrainSpLMD|6239;Eurexp|euxassay_007568|mantle layer;BrainSpMouseDev|44592	OMIM|602209;HPO|6239|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
U1	LGALS3	1.715879246	0	Transcription regulatory protein	BrainSpLMD|3958	OMIM|153619
U1	CALD1	1.714753615	0	Cytoskeletal associated protein	BrainSpLMD|800	OMIM|114213
U1	GADD45B	1.711840273	0	Cell cycle control protein	BrainSpLMD|4616;Eurexp|euxassay_014952|Meckel's cartilage, olfactory, orbito-sphenoid	SFARI||Autism, 5 - Hypothesized but untested;OMIM|604948
U1	IGDCC4	1.704470924	0	Cell surface receptor	BrainSpLMD|57722;Eurexp|euxassay_007736|diaphragm, footplate, handplate, mantle layer, mesenchyme, oesophagus, rest of mesenchyme, skeletal muscle, tongue, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|616810
U1	SMAD3	1.703902207	0	Transcription regulatory protein	BrainSpLMD|4088;Eurexp|euxassay_002759|dorsal grey horn, oesophagus, pharyngo-tympanic tube, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|16897	OMIM|603109;COSMIC||colorectal carcinoma, oral squamous cell carcinoma;HPO|4088|Abnormality of the iris, Abnormality of the sternum, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Arachnodactyly, Arterial tortuosity, Ascending aortic dissection, Atrial fibrillation, Autosomal dominant inheritance, Bruising susceptibility, Camptodactyly, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Dental malocclusion, Descending aortic dissection, Dural ectasia, Exertional dyspnea, High palate, Hip osteoarthritis, Hypertelorism, Hypertension, Inguinal hernia, Intervertebral disc degeneration, Joint laxity, Knee osteoarthritis, Left ventricular failure, Left ventricular hypertrophy, Mitral regurgitation, Mitral valve prolapse, Osteochondritis Dissecans, Paroxysmal dyspnea, Pes planus, Protrusio acetabuli, Scoliosis, Spondylolisthesis, Striae distensae, Umbilical hernia, Uterine prolapse
U1	MSX1	1.693000629	0	Transcription regulatory protein	BrainSpLMD|4487;BrainSpMouseDev|17468	OMIM|142983;HPO|4487|Agenesis of permanent teeth, Autosomal dominant inheritance, Cleft palate, Cleft upper lip, Concave nail, Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Fine hair, Fragile nails, Hypodontia, Hypoplasia of the maxilla, Hypoplastic fingernail, Hypoplastic toenails, Microdontia, Microdontia of primary teeth, Micrognathia, Nail pits, Oligodontia, Ridged fingernail, Ridged nail, Small nail, Sparse hair, Thin toenail
U1	DDOST	1.689242546	0	Enzyme: Galactosyltransferase	BrainSpLMD|1650	OMIM|602202;HPO|1650|Abnormality of the coagulation cascade, Accelerated skeletal maturation, Autosomal recessive inheritance, CNS hypomyelination, Constipation, Decreased liver function, Elevated hepatic transaminases, Esotropia, Failure to thrive, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Infantile onset, Neurodevelopmental delay, Neurological speech impairment, Oromotor apraxia, Osteopenia, Recurrent ear infections, Seizures, Short stature, Strabismus, Tremor, Type I transferrin isoform profile
U1	FOXD2	1.68754939	0	Transcription factor	BrainSpLMD|2306;Eurexp|euxassay_019656|ductus deferens, mantle layer, mesenchyme, metanephros, naris, penis, physiological umbilical hernia, vibrissa;BrainSpMouseDev|17070	OMIM|602211
U1	SNORD100	1.680846368	0			
U1	LRRC4C	1.677654087	0	Integral membrane protein	BrainSpLMD|57689	OMIM|608817
U1	B4GALT1	1.662005915	0	Enzyme: Galactosyltransferase	BrainSpLMD|2683	OMIM|137060;HPO|2683|Abnormality of coagulation, Autosomal recessive inheritance, Dandy-Walker malformation, Elevated serum creatine phosphokinase, Generalized hypotonia, Global developmental delay, Hydrocephalus, Macrocephaly, Muscular hypotonia, Myopathy
U1	PPP1R15A	1.65762848	0	Cell cycle control protein	BrainSpLMD|23645	OMIM|611048
U1	ITGA11	1.642535906	0	Adhesion molecule	BrainSpLMD|22801;Eurexp|euxassay_008538|axial skeleton, clavicle, femur, humerus, mandible, maxilla, meninges, mesenchyme, paraxial mesenchyme, pelvic girdle, rib, scapula, thymus primordium	OMIM|604789
U1	IFITM2	1.628776919	0	Integral membrane protein	BrainSpLMD|10581;Eurexp|euxassay_003572|mantle layer, thymus primordium	OMIM|605578
U1	FKBP10	1.613987227	0	Unclassified	BrainSpLMD|60681	OMIM|607063;HPO|60681|Abnormality of the skin, Ankle contracture, Aplasia/Hypoplasia of the patella, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Biconcave vertebral bodies, Blue sclerae, Brachycephaly, Coxa vara, Dentinogenesis imperfecta, Elbow flexion contracture, Elevated alkaline phosphatase, Gait disturbance, Hip contracture, Increased susceptibility to fractures, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Protrusio acetabuli, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes, Talipes equinovarus, Triangular face, Vertebral compression fractures, Vertebral wedging, Wormian bones
U1	MDK	1.611770706	0	Cytokine	BrainSpLMD|4192;Eurexp|euxassay_000525|anal region, gut, head mesenchyme, lung, mesenchyme, metanephros, penis, physiological umbilical hernia, spleen primordium, trunk mesenchyme, ventricular layer	OMIM|162096
U1	TCF7L2	1.610250837	0	Transcription factor	BrainSpLMD|6934;Eurexp|euxassay_019472|lip, mantle layer, mesenchyme, midgut, pancreas, phalanx, skeletal muscle, sternum, stomach, trachea, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|21177	SFARI||Autism, 3 - Suggestive evidence;OMIM|602228;COSMIC||colorectal
U1	PRDX4	1.604811769	0	Enzyme: Peroxidase	BrainSpLMD|10549	OMIM|300927
U1	RAB34	1.602293773	0	GTPase	BrainSpLMD|83871	OMIM|610917
U1	PPIB	1.593996062	0	Chaperone	BrainSpLMD|5479;Eurexp|euxassay_000530|basioccipital bone, basisphenoid bone, cranium, nucleus pulposus, orbito-sphenoid, otic capsule, rib, sphenoid	OMIM|123841;HPO|5479|Autosomal recessive inheritance, Blue sclerae, Bowing of limbs due to multiple fractures, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Kyphosis, Multiple prenatal fractures, Pectus carinatum, Pectus excavatum, Recurrent fractures, Scoliosis, Wormian bones
U1	EXTL2	1.59138058	0	Enzyme: Glycosyltransferase	BrainSpLMD|2135	OMIM|602411
U1	EML4	1.587125568	0	Structural protein	BrainSpLMD|27436	OMIM|607442;COSMIC||NSCLC
U1	MYO1C	1.583988133	0	Motor protein	BrainSpLMD|4641	OMIM|606538
U1	TMED3	1.578589235	0	Integral membrane protein	BrainSpLMD|23423;Eurexp|euxassay_003152|Meckel's cartilage, axial skeleton, basisphenoid bone, chondrocranium, clavicle, cranium, exoccipital bone, incisor, molar, nasal capsule, nasal septum, orbito-sphenoid, otic capsule, pancreas, rib, turbinate, turbinate bones;BrainSpMouseDev|41954	
U1	PHLDB2	1.575569823	0	Cytoskeletal associated protein	BrainSpLMD|90102	OMIM|610298
U1	RGCC	1.565479157	0	Cell cycle control protein	BrainSpLMD|28984;Eurexp|euxassay_007417|dorsal root ganglion, facial VII, glossopharyngeal IX, left, liver, mandible, mantle layer, marginal layer, maxilla, mesenchyme, right, thymus primordium, thyroid, trigeminal V, ventral grey horn, ventricular layer	OMIM|610077
U1	GRN	1.55399047	0	Growth factor	BrainSpLMD|2896	OMIM|138945;HPO|2896|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Aggressive behavior, Agitation, Alexia, Anxiety, Apathy, Aphasia, Apraxia, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral cortical atrophy, Collectionism, Depressivity, Dilation of lateral ventricles, Disinhibition, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, EEG abnormality, EEG with continuous slow activity, Echolalia, Emotional blunting, Frontotemporal cerebral atrophy, Frontotemporal dementia, Generalized myoclonic seizures, Gliosis, Grammar-specific speech disorder, Hallucinations, Hyperorality, Hypersexuality, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Mutism, Neuronal loss in central nervous system, Optic atrophy, Parkinsonism, Perseveration, Personality changes, Polyphagia, Poor speech, Progressive language deterioration, Rapidly progressive, Repetitive compulsive behavior, Restlessness, Restrictive behavior, Retinal dystrophy, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold, Visual impairment
U1	ARF4	1.547335278	0	Transport/cargo protein	BrainSpLMD|378;Eurexp|euxassay_000003|arm, associated mesenchyme, axial skeleton, basal columns, clavicle, dermal component, diaphragm, dorsal root ganglion, duodenum, epidermal component, epithelium, facial VII, femur, floor plate, floorplate, foregut, forelimb, frontal bone primordium, glandular mucous membrane, hindlimb, hypoglossal XII, intervertebral disc, leg, limb, lower jaw, mandible, medullary raphe, mesenchyme, nasal capsule, nasal cavity, nasal septum, neural retina, nose, oculomotor III, olfactory, oral epithelium, oral region, pectoral girdle and thoracic body wall, petrous part, pons, skeleton, spinal cord, stomach, stroma, submandibular gland primordium, tibia, trigeminal V, turbinate bones, vagus X, vertebral cartilage condensation, vibrissa	OMIM|601177
U1	SEC23A	1.536101787	0	Transport/cargo protein	BrainSpLMD|10484;Eurexp|euxassay_010377|clavicle, mandible, maxilla, orbito-sphenoid, rib, turbinate bones	OMIM|610511;HPO|10484|Anteverted nares, Autosomal recessive inheritance, Brittle hair, Capillary hemangiomas, Carious teeth, Coarse hair, Cryptorchidism, Decreased skull ossification, Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Forehead hyperpigmentation, Frontal bossing, High iliac wings, Hyperpigmentation of the skin, Hypertelorism, Hypoplasia of teeth, Hypoplasia of the maxilla, Joint laxity, Large fontanelles, Long philtrum, Macrocephaly, Malar flattening, Microdontia, Midface retrusion, Narrow chest, Narrow iliac wings, Pes planus, Posterior Y-sutural cataract, Posterior wedging of vertebral bodies, Premature loss of teeth, Prominent nasal bridge, Prominent supraorbital ridges, Punctate cataract, Scoliosis, Short stature, Skeletal dysplasia, Smooth philtrum, Sparse hair, Sutural cataract, Thin upper lip vermilion, Thin vermilion border, Wide anterior fontanel, Wide mouth, Wide nasal bridge, Wide nose
U1	FOSB	1.521340521	0	Transcription factor	BrainSpLMD|2354	OMIM|164772
U1	SNHG12	1.519879537	0	Unclassified		
U1	GLT8D1	1.513006047	0	Unclassified;Enzyme: Transferase	BrainSpLMD|55830	
U1	TMEM39A	1.510267496	0	Unclassified	BrainSpLMD|55254;Eurexp|euxassay_005679|embryo	
U1	PCDH7	1.509635473	0	Adhesion molecule	BrainSpLMD|5099;Eurexp|euxassay_009713|bladder, dorsal root ganglion, mantle layer, mesenchyme, olfactory, stomach, trigeminal V, vestibulocochlear VIII	OMIM|602988
U1	PXDN	1.50671875	0	Enzyme: Peroxidase		SFARI||Autism, No category;OMIM|605158;HPO|7837|Abnormality of the outer ear, Autosomal recessive inheritance, Sclerocornea
U1	PLAC9	1.504071229	0	Unclassified	Eurexp|euxassay_006803|axial skeleton, bladder, choroid plexus, ductus deferens, mesenchyme, oesophagus, sternum, stomach, submandibular gland primordium, trachea, ventricular layer	OMIM|612857
U1	SESN3	1.501899568	0	Cell cycle control protein	BrainSpLMD|143686	OMIM|607768
U1	FOSL2	1.490940373	0	Transcription factor	BrainSpLMD|2355;Eurexp|euxassay_018136|adrenal gland, axial skeleton, calyces, clavicle, ductus deferens, fundus, hindgut, intervertebral disc, mandible, mantle layer, marginal layer, maxilla, midgut, pelvis, testis, urethra, vertebral cartilage condensation, vibrissa;BrainSpMouseDev|14061	OMIM|601575
U1	ATF3	1.489477662	0	Transcription regulatory protein	BrainSpLMD|467;Eurexp|euxassay_006681|femur, humerus, ventricle;BrainSpMouseDev|11697	OMIM|603148
U1	MEST	1.488185621	0	Enzyme: Hydrolase	BrainSpLMD|4232;Eurexp|euxassay_003445|atrium, ventricle;BrainSpMouseDev|17063	OMIM|601029
U1	CTD.2031P19.4	1.486441139	0			
U1	SPATS2L	1.485157328	0	Unclassified	BrainSpLMD|26010;Eurexp|euxassay_013635|bladder, exoccipital bone, mantle layer, mesenchyme, oesophagus, orbito-sphenoid, penis, pharyngo-tympanic tube, tongue, turbinate, vertebral axis muscle system, vibrissa	OMIM|613817
U1	FBLN1	1.459813195	0	Extracellular matrix protein	BrainSpLMD|2192;Eurexp|euxassay_011935|bladder, meninges, mesenchyme, midgut, nasal cavity, stomach, valve	OMIM|135820;HPO|2192|Autosomal dominant inheritance, Carpal synostosis, Metacarpal synostosis, Metatarsal synostosis, Polydactyly, Tarsal synostosis, Toe syndactyly
U1	MYL9	1.458707036	0	Unclassified	BrainSpLMD|10398;Eurexp|euxassay_010121|atrium, bladder, cardiovascular system, left lung, liver, midgut, nasal cavity, oesophagus, right lung, stomach, ventricle	OMIM|609905
U1	MEGF6	1.455591897	0	Structural protein	Eurexp|euxassay_011603|axial skeleton, exoccipital bone, head mesenchyme, mesenchyme, pericardial cavity, peritoneal cavity, pharyngo-tympanic tube, pleural cavity, rest of mesenchyme, submandibular gland primordium, temporal bone, tongue, trunk mesenchyme, vibrissa	OMIM|604266
U1	MYADM	1.455268641	0	Unclassified	BrainSpLMD|91663;Eurexp|euxassay_004288|femur, footplate, forelimb, hindlimb, mesenchyme, tail	OMIM|609959
U1	LPP	1.446302898	0	Unclassified	BrainSpLMD|4026	OMIM|600700;COSMIC||lipoma, leukaemia
U1	CDKN1C	1.445894057	0	Cell cycle control protein	BrainSpLMD|1028	OMIM|600856;HPO|1028|Accelerated skeletal maturation, Adrenal hypoplasia, Adrenocortical carcinoma, Adrenocortical cytomegaly, Autosomal dominant inheritance, Cardiomegaly, Cardiomyopathy, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Decreased testicular size, Delayed skeletal maturation, Depressed nasal bridge, Diastasis recti, Enlarged kidney, Epiphyseal dysplasia, Frontal bossing, Gonadoblastoma, Growth hormone deficiency, Hemihypertrophy, Hepatoblastoma, Hepatomegaly, Hydronephrosis, Hypercalcemia, Hypercalciuria, Hypogonadism, Hypospadias, Intrauterine growth retardation, Large fontanelles, Low-set ears, Macroglossia, Metaphyseal dysplasia, Micromelia, Micropenis, Midface retrusion, Muscular hypotonia, Neonatal hypoglycemia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Omphalocele, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Posterior helix pit, Postnatal growth retardation, Prominent forehead, Prominent metopic ridge, Prominent occiput, Proptosis, Renal cortical cysts, Short nose, Short stature, Vesicoureteral reflux
U1	TPM2	1.442567542	0	Cytoskeletal protein	BrainSpLMD|7169	OMIM|190990;HPO|7169|Abnormality of the ear, Abnormality of the hip bone, Absent phalangeal crease, Adducted thumb, Aplasia/Hypoplasia of the radius, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bulbar palsy, Calcaneovalgus deformity, Camptodactyly, Camptodactyly of finger, Centrally nucleated skeletal muscle fibers, Childhood onset, Congenital onset, Decreased fetal movement, Difficulty walking, Dilated cardiomyopathy, Distal arthrogryposis, Downslanted palpebral fissures, Dysphagia, Elbow flexion contracture, Facial diplegia, Facial palsy, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Generalized muscle weakness, Gowers sign, Heterogeneous, High palate, Hyporeflexia, Joint stiffness, Kyphoscoliosis, Limb muscle weakness, Long face, Long philtrum, Lumbar hyperlordosis, Mandibular prognathia, Metatarsus adductus, Micrognathia, Motor delay, Muscular hypotonia, Myopathic facies, Myopathy, Narrow face, Narrow mouth, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Overlapping fingers, Pectus excavatum, Prominent nasolabial fold, Protruding ear, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Reduced tendon reflexes, Reduced vital capacity, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Rocker bottom foot, Round ear, Scapular winging, Scoliosis, Short neck, Short stature, Skeletal muscle atrophy, Talipes, Talipes equinovarus, Tarsal synostosis, Triangular face, Type 1 fibers relatively smaller than type 2 fibers, Type 1 muscle fiber predominance, Ulnar deviation of finger, Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the wrist, Variable expressivity, Vertebral segmentation defect, Waddling gait, Weak cry, Webbed neck, Wide nasal bridge
U1	SMARCA1	1.442352398	0	Transcription regulatory protein	BrainSpLMD|6594;Eurexp|euxassay_015278|floorplate, hindgut, midgut, stomach	OMIM|300012
U1	FOS	1.438294171	0	Transcription factor	BrainSpLMD|2353;Eurexp|euxassay_012634|mandible, maxilla;BrainSpMouseDev|14058	OMIM|164810;HPO|2353|Abnormality of skin pigmentation, Acanthosis nigricans, Accelerated skeletal maturation, Bone cyst, Broad foot, Diabetes mellitus, Generalized hirsutism, Growth hormone excess, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hyperinsulinemia, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Insulin resistance, Intellectual disability, Large hands, Lipoatrophy, Mandibular prognathia, Precocious puberty, Prominent supraorbital ridges, Skeletal muscle hypertrophy
U1	LHFP	1.42922631	0			
U1	NFKBIZ	1.425416464	0	Transcription regulatory protein	BrainSpLMD|64332	OMIM|608004
U1	ATRAID	1.419948304	0	Unclassified	BrainSpLMD|51374	
U1	ZFP36L2	1.419209882	0	Transcription factor	BrainSpLMD|678	OMIM|612053
U1	WNT2B	1.416391733	0	Ligand	BrainSpLMD|7482;BrainSpMouseDev|22171	OMIM|601968
U1	P4HA1	1.413031544	0	Enzyme: Hydroxylase	BrainSpLMD|5033;Eurexp|euxassay_000584|Meckel's cartilage, axial skeleton, chondrocranium, incisor, limb, molar, nasal capsule, pectoral girdle and thoracic body wall	OMIM|176710
U1	SULF2	1.404607683	0	Enzyme: Sulphatase	BrainSpLMD|55959	OMIM|610013
U1	LRPAP1	1.403441335	0	Chaperone	BrainSpLMD|4043;Eurexp|euxassay_013971|calyces, choroid invagination, choroid plexus, floor plate, floorplate, mantle layer, marginal layer, olfactory, roof plate, stomach	OMIM|104225;HPO|4043|Autosomal recessive inheritance, Increased axial globe length, Reduced visual acuity, Severe Myopia, Visual impairment
U1	BACE2	1.398714679	0	Protease	BrainSpLMD|25825	OMIM|605668
U1	UTRN	1.391781957	0	Anchor protein	BrainSpLMD|7402;Eurexp|euxassay_013991|bladder, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, primitive seminiferous tubules, rectum, stomach, trigeminal V, urethra	SFARI||Autism, No category;OMIM|128240
U1	LPHN2	1.385734916	0			
U1	SEC31A	1.378346086	0	Transport/cargo protein	BrainSpLMD|22872	OMIM|610257
U1	CRTAP	1.376175057	0	Unclassified	BrainSpLMD|10491	OMIM|605497;HPO|10491|Absent pulmonary artery, Autosomal recessive inheritance, Blue sclerae, Bowing of the legs, Breech presentation, Coxa vara, Crumpled long bones, Death in infancy, Decreased calvarial ossification, Delayed cranial suture closure, Externally rotated/abducted legs, Hydronephrosis, Hypoplastic pulmonary veins, Long philtrum, Micromelia, Multiple prenatal fractures, Multiple rib fractures, Narrow chest, Osteopenia, Pectus excavatum, Proptosis, Protrusio acetabuli, Recurrent fractures, Rhizomelia, Round face, Scoliosis, Vertebral compression fractures, Wide anterior fontanel, Wide cranial sutures, Wormian bones
U1	SBDS	1.367309124	0	Unclassified	BrainSpLMD|51119	OMIM|607444;COSMIC||AML, MDS;HPO|51119|Abnormality of the metaphysis, Acute myeloid leukemia, Anemia, Autosomal recessive inheritance, Coxa vara, Delayed skeletal maturation, Eczema, Elevated hepatic transaminases, Enlargement of the costochondral junction, Exocrine pancreatic insufficiency, Failure to thrive, Generalized hypotonia, Global developmental delay, Hepatomegaly, Ichthyosis, Intellectual disability, Intellectual disability, mild, Irregular ossification at anterior rib ends, Malabsorption, Metaphyseal chondrodysplasia, Metaphyseal sclerosis, Metaphyseal widening, Myelodysplasia, Myocardial necrosis, Narrow chest, Narrow sacroiliac notch, Neonatal respiratory distress, Nephrocalcinosis, Neutropenia, Osteopenia, Ovoid vertebral bodies, Pancytopenia, Persistence of hemoglobin F, Proximal femoral epiphysiolysis, Recurrent infections, Short stature, Small for gestational age, Specific learning disability, Steatorrhea, Thrombocytopenia
U1	MBNL1	1.366978089	0	RNA binding protein	BrainSpLMD|4154	OMIM|606516
U1	KANK2	1.363656748	0	Structural protein	BrainSpLMD|25959	OMIM|614610;HPO|25959|Autosomal recessive inheritance, Palmoplantar keratoderma, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Sparse scalp hair, Woolly hair, Woolly scalp hair
U1	QPRT	1.363551241	0	Enzyme: Ribosyltransferase	BrainSpLMD|23475;Eurexp|euxassay_004564|calyces, mandible, maxilla	OMIM|606248
U1	SEC13	1.360817999	0	Transport/cargo protein	BrainSpLMD|6396;Eurexp|euxassay_004833|cranium, mandible, maxilla	OMIM|600152
U1	PTGFRN	1.358332817	0	Integral membrane protein	BrainSpLMD|5738;Eurexp|euxassay_007366|axial skeleton, clavicle, floor plate, floorplate, lung, mantle layer, mesenchyme, palatal shelf, penis, sternum, submandibular gland primordium, ventricular layer, vibrissa	OMIM|601204
U1	HDLBP	1.357062112	0	Transport/cargo protein;RNA binding protein	BrainSpLMD|3069	OMIM|142695
U1	LEPREL4	1.355481993	0			
U1	CEBPD	1.333812372	0	Transcription factor	BrainSpLMD|1052;BrainSpMouseDev|12394	OMIM|116898
U1	TARS	1.320879244	0	Enzyme: Ligase	BrainSpLMD|6897;Eurexp|euxassay_006234|cortex, left, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|187790
U1	ZIC2	1.316817884	0	Transcription regulatory protein	BrainSpLMD|7546;BrainSpMouseDev|22529	OMIM|603073;HPO|7546|Abnormal facial shape, Autosomal dominant inheritance, Global developmental delay, Holoprosencephaly, Hydrocephalus, Intellectual disability, Microcephaly, Synophrys, Trigonocephaly
U1	SAMD4A	1.312649342	0	Unclassified	BrainSpLMD|23034	OMIM|610747
U1	ZFP36L1	1.310158649	0	Transcription factor	BrainSpLMD|677;Eurexp|euxassay_007310|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|11978	OMIM|601064
U1	CKAP4	1.305796832	0	Cytoskeletal associated protein	BrainSpLMD|10970	
U1	RHOC	1.300055135	0	GTPase	BrainSpLMD|389	OMIM|165380
U1	LDB2	1.296262431	0	Transcription regulatory protein	BrainSpLMD|9079;BrainSpMouseDev|16597	OMIM|603450
U1	OAT	1.294853857	0	Enzyme: Aminotransferase	BrainSpLMD|4942	OMIM|613349;HPO|4942|Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Blindness, Chorioretinal atrophy, EMG abnormality, Myopia, Nyctalopia, Posterior subcapsular cataract, Proximal muscle weakness
U1	FLRT2	1.286777517	0	Adhesion molecule	BrainSpLMD|23768	OMIM|604807
U1	TPM1	1.276259492	0	Cytoskeletal associated protein	BrainSpLMD|7168;Eurexp|euxassay_009503|atrium, axial skeleton, bladder, choroid plexus, diaphragm, extrinsic ocular muscle, hindgut, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, liver, lung, mantle layer, mesenchyme, metanephros, midgut, nasal septum, skeletal muscle, skin, stomach, ventral grey horn, ventricle, vertebral axis muscle system, vibrissa	OMIM|191010;HPO|7168|Autosomal dominant inheritance, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular tachycardia
U1	SEC22B	1.275459165	0	Integral membrane protein	BrainSpLMD|9554	OMIM|604029
U1	TRAM1	1.262998341	0	Membrane transport protein	BrainSpLMD|23471	OMIM|605190
U1	PEAK1	1.260806482	0	Tyrosine kinase		OMIM|614248
U1	ATP2B4	1.257236582	0	ATPase	BrainSpLMD|493;Eurexp|euxassay_013200|lobe, ventral grey horn	OMIM|108732
U1	PDIA6	1.255992117	0	Enzyme: Isomerase	BrainSpLMD|10130	OMIM|611099
U1	RPL41P1	1.251032779	0			
U1	VCL	1.247793225	0	Cytoskeletal associated protein	BrainSpLMD|7414	OMIM|193065;HPO|7414|Autosomal dominant inheritance, Congestive heart failure, Dilated cardiomyopathy, Dyspnea, Endocardial fibrosis, Hypertrophic cardiomyopathy
U1	FOXP1	1.246504051	0	Transcription factor	BrainSpLMD|27086;Eurexp|euxassay_012052|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, handplate, humerus, mantle layer, mesenchyme, metatarsus, nasal septum, orbito-sphenoid, pelvic girdle, rib, scapula, temporal bone, tibia, turbinate;BrainSpMouseDev|72814	SFARI||Autism, 2 - Strong candidate;OMIM|605515;COSMIC||ALL;HPO|27086|Aggressive behavior, Anemia, Autosomal dominant inheritance, B-cell lymphoma, Broad nasal tip, Constipation, Delayed gross motor development, Delayed speech and language development, Downslanted palpebral fissures, Fatigue, Fever, Generalized hypotonia, Hyperactivity, Hyperhidrosis, Hypertelorism, Intellectual disability, Macrocephaly, Nausea and vomiting, Nystagmus, Open mouth, Prominent forehead, Pulmonary infiltrates, Retrognathia, Short nose, Stereotypy, Strabismus, Weight loss
U1	DNAJC3	1.243556644	0	Translation regulatory protein	BrainSpLMD|5611	OMIM|601184;HPO|5611|Atrophy/Degeneration affecting the brainstem, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Sensorineural hearing impairment, Short stature, Type I diabetes mellitus
U1	CCNL1	1.237755583	0	RNA binding protein	BrainSpLMD|57018	OMIM|613384
U1	SNHG8	1.22816623	0			
U1	HSP90B1	1.227236721	0	Heat shock protein	BrainSpLMD|7184;Eurexp|euxassay_000099|body-wall mesenchyme, dermis, epidermis, nucleus pulposus	OMIM|191175
U1	TNC	1.226668123	0	Adhesion molecule	BrainSpLMD|3371;Eurexp|euxassay_009501|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, cochlea, cochlear duct, diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, fibula, handplate, humerus, lip, lung, mandible, mantle layer, maxilla, maxillary division, mesenchyme, molar, nasal septum, oesophagus, orbito-sphenoid, palatal shelf, pelvic girdle, penis, pharyngo-tympanic tube, rib, scapula, skeletal muscle, sternum, temporal bone, thymus primordium, tibia, tongue, trigeminal V, vault of skull, ventral grey horn, ventricle, ventricular layer, vibrissa;BrainSpMouseDev|21680	OMIM|187380;COSMIC||SCC, melanoma;HPO|3371|Autosomal dominant inheritance, Hearing impairment
U1	RCN1	1.208076276	0	Calcium binding protein	BrainSpLMD|5954;Eurexp|euxassay_006169|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, peripheral nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|19435	OMIM|602735
U1	IFNGR2	1.202467192	0	Cell surface receptor	BrainSpLMD|3460;Eurexp|euxassay_009771|basal columns, dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vagus X	OMIM|147569;HPO|3460|Autosomal recessive inheritance, Immunodeficiency, Recurrent mycobacterial infections
U1	BMP1	1.200141756	0	Metallo protease	BrainSpLMD|649;BrainSpMouseDev|11939	OMIM|112264;HPO|649|Autosomal recessive inheritance, Platyspondyly, Skeletal muscle atrophy, Triangular face
U1	ARSB	1.185043035	0	Enzyme: Sulphatase	BrainSpLMD|411	OMIM|611542;HPO|411|Abnormality of the heart valves, Anterior wedging of L1, Anterior wedging of L2, Autosomal recessive inheritance, Broad ribs, Cardiomyopathy, Cervical myelopathy, Coarse facial features, Constrictive median neuropathy, Depressed nasal bridge, Dermatan sulfate excretion in urine, Disproportionate short-trunk short stature, Dolichocephaly, Dysostosis multiplex, Epiphyseal dysplasia, Flared iliac wings, Genu valgum, Glaucoma, Hearing impairment, Hepatomegaly, Hip dysplasia, Hirsutism, Hydrocephalus, Hypoplasia of the odontoid process, Hypoplastic acetabulae, Hypoplastic iliac wing, Inguinal hernia, Joint stiffness, Lumbar hyperlordosis, Macrocephaly, Macroglossia, Metaphyseal irregularity, Metaphyseal widening, Opacification of the corneal stroma, Ovoid vertebral bodies, Prominent sternum, Recurrent upper respiratory tract infections, Splenomegaly, Split hand, Umbilical hernia
U1	JUN	1.184749418	0	Transcription factor	BrainSpLMD|3725;Eurexp|euxassay_017995|mantle layer, metacarpus, metatarsus, olfactory, phalanx, ventral grey horn, ventricular layer;BrainSpMouseDev|16249	OMIM|165160;COSMIC||sarcoma
U1	SAR1A	1.17980373	0	GTPase	BrainSpLMD|56681;Eurexp|euxassay_004471|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|607691
U1	MAGED2	1.177302845	0	Unclassified	BrainSpLMD|10916	OMIM|300470;HPO|10916|Fetal polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Hyponatremia, Increased circulating renin level, Medullary nephrocalcinosis, Polyhydramnios, Polyuria, Premature birth, X-linked recessive inheritance
U1	YIPF5	1.170572709	0	Unclassified	BrainSpLMD|81555;Eurexp|euxassay_002709|Meckel's cartilage, orbito-sphenoid	OMIM|611483
U1	TRPS1	1.16525087	0	Transcription factor	BrainSpLMD|7227;Eurexp|euxassay_011487|axial skeleton, basioccipital bone, basisphenoid bone, bladder, clavicle, cornea, cricoid, diaphragm, dorsal grey horn, exoccipital bone, femur, humerus, knee, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, rib, skeletal muscle, sternum, stomach, submandibular gland primordium, thyroid, tongue, trachea, ureter, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|58142	OMIM|604386;HPO|7227|Abnormality of the nervous system, Abnormally low-pitched voice, Accelerated bone age after puberty, Aplasia/Hypoplasia of the mandible, Arthralgia, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Bone pain, Bulbous nose, Camptodactyly of finger, Carious teeth, Chin with horizontal crease, Clinodactyly of the 5th finger, Concave nail, Cone-shaped epiphyses of the middle phalanges of the hand, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphyses of the proximal phalanges of the hand, Cone-shaped epiphysis, Coxa magna, Deep philtrum, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Fine hair, Flat capital femoral epiphysis, Fragile nails, Frontal bossing, Generalized hypotonia, High palate, Hyperlordosis, Increased number of teeth, Infantile muscular hypotonia, Intellectual disability, Ivory epiphyses of the distal phalanges of the hand, Joint dislocation, Joint hyperflexibility, Leukonychia, Long philtrum, Long upper lip, Low-set, posteriorly rotated ears, Macrotia, Microdontia, Micrognathia, Multiple long-bone exostoses, Muscular hypotonia, Narrow palate, Osteoarthritis, Osteopenia, Pear-shaped nose, Pectus carinatum, Pes planus, Protruding ear, Recurrent respiratory infections, Redundant skin, Scapular winging, Scoliosis, Short distal phalanx of finger, Short finger, Short foot, Short metacarpal, Short metatarsal, Short palm, Short phalanx of finger, Short stature, Shortening of all phalanges of fingers, Slow-growing hair, Smooth philtrum, Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Sparse lateral eyebrow, Sparse scalp hair, Swelling of proximal interphalangeal joints, Thick eyebrow, Thin eyebrow, Thin nail, Thin upper lip vermilion, Triangular face, Underdeveloped nasal alae
U1	SURF4	1.156679494	0	Membrane transport protein		OMIM|185660
U1	PDIA4	1.140691247	0	Chaperone	BrainSpLMD|9601;Eurexp|euxassay_000803|basal plate, telencephalon, ventricular layer	
U1	CAST	1.133857863	0	Protease inhibitor	BrainSpLMD|831	OMIM|114090;HPO|831|Angular cheilitis, Autosomal recessive inheritance, Epidermal acanthosis, Leukonychia, Palmoplantar keratoderma, Scaling skin
U1	HSPA5	1.132519955	0	Chaperone	BrainSpLMD|3309	OMIM|138120
U1	RBBP7	1.130520149	0	Transcription regulatory protein	BrainSpLMD|5931;Eurexp|euxassay_011608|cranium, midgut, pelvis, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|300825
U1	SYNE1	1.123517801	0	Unclassified	BrainSpLMD|23345	SFARI||Autism, 4 - Minimal evidence;OMIM|608441;HPO|23345|Adult onset, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Childhood onset, Dysarthria, Dysmetria, Elevated serum creatine phosphokinase, Gait ataxia, Left ventricular septal hypertrophy, Limb ataxia, Muscular dystrophy, Neck muscle weakness, Nystagmus, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Slow progression
U1	NUCB1	1.116245426	0	Calcium binding protein		OMIM|601323
U1	RPS12	1.111512682	0	Ribosomal subunit	BrainSpMouseDev|19805	OMIM|603660
U1	SLC25A37	1.107976668	0	Transport/cargo protein	BrainSpLMD|51312;Eurexp|euxassay_007768|liver, mesenchyme	OMIM|610387
U1	GOLIM4	1.095983597	0	Integral membrane protein	BrainSpLMD|27333	OMIM|606805
U1	ZFHX4	1.093354041	0	Transcription factor	BrainSpLMD|79776;Eurexp|euxassay_005820|epidermis, mantle layer, nasal septum, urethra;BrainSpMouseDev|56662	OMIM|606940;HPO|79776|Autosomal dominant inheritance, Congenital ptosis
U1	GSTM2	1.09191992	0	Enzyme: Glutathione transferase	BrainSpLMD|2946;Eurexp|euxassay_010417|mantle layer, olfactory, renal/urinary system, testis	OMIM|138380
U1	MYLIP	1.09135663	0	Ubiquitin proteasome system protein	BrainSpLMD|29116	OMIM|610082
U1	PEAR1	1.074802959	0	Integral membrane protein		OMIM|610278
U1	COLGALT1	1.07077786	0	Unclassified	BrainSpLMD|79709	OMIM|617531
U1	LIMA1	1.067232882	0	Cytoskeletal protein	BrainSpLMD|51474	OMIM|608364
U1	TPT1	1.057133077	0	Calcium binding protein	BrainSpLMD|7178	OMIM|600763
U1	SEMA3A	1.049748868	0	Ligand	BrainSpLMD|10371;BrainSpMouseDev|20109	OMIM|603961;HPO|10371|Abnormality of the voice, Anosmia, Anterior hypopituitarism, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Delayed puberty, Erectile abnormalities, Hypogonadotrophic hypogonadism, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Reduced bone mineral density
U1	B2M	1.046782982	0	MHC complex protein	BrainSpLMD|567	OMIM|109700;COSMIC||DLBCL, melanoma, colorectal adenocarcinoma, Immunodeficiency 43;HPO|567|Autonomic bladder dysfunction, Autonomic dysregulation, Autosomal dominant inheritance, Autosomal recessive inheritance, Bowel incontinence, Bronchiectasis, Cholestasis, Chronic constipation, Chronic diarrhea, Edema, Gastrointestinal dysmotility, Gastrointestinal hemorrhage, Generalized amyloid deposition, Hematuria, Hepatomegaly, Hypertension, Hypoalbuminemia, Hypoplasia of the ulna, Hypoproteinemia, IgG deficiency, Intermittent diarrhea, Keratoconjunctivitis sicca, Malabsorption, Nephropathy, Nephrotic syndrome, Orthostatic hypotension due to autonomic dysfunction, Proteinuria, Radial bowing, Recurrent respiratory infections, Skin rash, Splenomegaly, Variable expressivity, Vertigo, Weight loss, Xerostomia
U1	RFTN2	1.038311955	0	Unclassified	BrainSpLMD|130132	
U1	TCF7L1	1.0366939	0	Transcription regulatory protein	BrainSpLMD|83439;BrainSpMouseDev|21176	OMIM|604652
U1	C19orf10	1.031659437	0			
U1	MT.RNR2	1.02610327	0			
U1	WBP5	1.008774695	0			
U1	RHOA	1.006864112	0	GTPase	BrainSpLMD|387;BrainSpMouseDev|11635	OMIM|165390;COSMIC||diffuse gastric, T cell lymphomas, paediatric Burkitt lymphoma
U1	RPS4Y1	1.006038739	0	Ribosomal subunit	BrainSpLMD|6192;BrainSpMouseDev|19865	OMIM|470000
U1	CD81	0.999474178	0	Enzyme: Oxidase	BrainSpLMD|975;Eurexp|euxassay_012630|choroid plexus, mantle layer, stomach, ventral grey horn, ventricular layer	OMIM|186845;HPO|975|Anal atresia, Autoimmune thrombocytopenia, Autosomal recessive inheritance, Brachycephaly, Bronchiectasis, Chronic otitis media, Decreased antibody level in blood, Elevated hepatic transaminases, Hemolytic anemia, Immunodeficiency, Lymphadenopathy, Lymphopenia, Pneumonia, Purpura, Recurrent bacterial infections, Recurrent bronchitis, Recurrent respiratory infections, Splenomegaly
U1	AC016708.2	0.999347908	0			
U1	RP11.613M5.2	0.998598711	0			
U1	CD47	0.996165597	0	Unclassified	BrainSpLMD|961;Eurexp|euxassay_003895|dorsal root ganglion, floorplate, glossopharyngeal IX, left, lip, mantle layer, marginal layer, olfactory, right, thalamus, thymus primordium, trigeminal V, ventral grey horn;BrainSpMouseDev|16196	OMIM|601028
U1	LAPTM4A	0.994936318	0	Membrane transport protein	BrainSpLMD|9741	
U1	MEG3	0.974522394	0			OMIM|605636
U1	PALLD	0.969349435	0	Unclassified	BrainSpLMD|23022	OMIM|608092
U1	CLINT1	0.961808087	0	Transport/cargo protein	BrainSpLMD|9685;Eurexp|euxassay_011314|basioccipital bone, basisphenoid bone, clavicle, cortex, cricoid, liver, mandible, maxilla, midgut, naris, orbito-sphenoid, otic capsule, petrous part, rectum, rib, sternum, sublingual gland primordium, submandibular gland primordium, temporal bone, thyroid, turbinate bones, valve, vault of skull	OMIM|607265
U1	CDK6	0.940481049	0	Cell cycle control protein	BrainSpLMD|1021	OMIM|603368;COSMIC||ALL;HPO|1021|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Cortical gyral simplification, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
U1	HSPH1	0.936858355	0	Heat shock protein;Chaperone	BrainSpLMD|10808	OMIM|610703
U1	RIN2	0.935153932	0	Guanine nucleotide exchange factor	BrainSpLMD|54453	OMIM|610222;HPO|54453|Abnormality of the sternum, Alopecia, Autosomal recessive inheritance, Bruising susceptibility, Coarse facial features, Cognitive impairment, Cutis laxa, Decreased body weight, Downslanted palpebral fissures, Eclabion, Gingival overgrowth, High palate, High pitched voice, Hirsutism, Hyperextensible skin, Infra-orbital fold, Irregular dentition, Joint hypermobility, Long philtrum, Muscular hypotonia, Palpebral edema, Pes planus, Prolonged bleeding time, Redundant skin, Scoliosis, Short stature, Sparse and thin eyebrow, Sparse hair, Sparse scalp hair, Thick lower lip vermilion, Umbilical hernia, Upper eyelid edema
U1	CLU	0.932212659	0	Complement protein	BrainSpLMD|1191;BrainSpMouseDev|12543	OMIM|185430
U1	EEF1D	0.91692367	0	Guanine nucleotide exchange factor	BrainSpLMD|1936	OMIM|130592
U1	ARHGEF10	0.908324205	0	Guanine nucleotide exchange factor	BrainSpLMD|9639	OMIM|608136;HPO|9639|Adult onset, Autosomal dominant inheritance, Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination
U1	FKBP11	0.908098734	0	Enzyme: Isomerase	BrainSpLMD|51303;Eurexp|euxassay_008734|basioccipital bone, clavicle, exoccipital bone, incisor, left, mandible, maxilla, orbito-sphenoid, otic capsule, petrous part, rib, right, temporal bone, temporo-mandibular joint primordium, turbinate	OMIM|610571
U1	YBX3	0.893898376	0	DNA binding protein	BrainSpLMD|8531	OMIM|603437
U1	EEF1A1P5	0.887956728	0			
U1	DNAJA1	0.879672555	0	Heat shock protein	BrainSpLMD|3301	OMIM|602837
U1	OST4	0.879287123	0	-	Eurexp|euxassay_002153|Meckel's cartilage, orbito-sphenoid	
U1	MRC2	0.874487793	0	Cell surface receptor	BrainSpLMD|9902;Eurexp|euxassay_009360|mandible, maxilla, meninges, mesenchyme, temporal bone	OMIM|612264
U1	LRP1	0.870396571	0	Cell surface receptor	BrainSpLMD|4035;Eurexp|euxassay_011128|mesenchyme, ventricular layer;BrainSpMouseDev|16741	OMIM|107770;HPO|4035|Autosomal recessive inheritance
U1	UBC	0.850261399	0	Ubiquitin proteasome system protein	BrainSpLMD|7316	OMIM|191340
U1	HERPUD1	0.819412947	0	Integral membrane protein	BrainSpLMD|9709;Eurexp|euxassay_005097|clavicle, mandible, maxilla, olfactory, orbito-sphenoid	OMIM|608070;COSMIC||prostate
U1	SERF2	0.816224387	0	RNA binding protein	BrainSpLMD|10169;Eurexp|euxassay_007238|cranium	OMIM|605054
U1	NXF1	0.801909471	0	RNA binding protein	BrainSpLMD|10482	OMIM|602647
U1	EEF1A1	0.798120674	0	Transcription regulatory protein	BrainSpLMD|1915	OMIM|130590
U1	TMEM261	0.788035462	0			
U1	SRPRB	0.782262835	0	GTPase	BrainSpLMD|58477;Eurexp|euxassay_010365|basioccipital bone, clavicle, femur, humerus, mandible, maxilla, naris, orbito-sphenoid, rib, sternum, tibia, turbinate bones	OMIM|616883
U1	TENM2	0.764290325	0	Translation regulatory protein		OMIM|610119
U1	NPM1	0.735880894	0	Chaperone	BrainSpLMD|4869;Eurexp|euxassay_005708|embryo	OMIM|164040;COSMIC||NHL, APL, AML
U1	RP11.3P17.3	0.73328501	0			
U1	CDKN1A	0.729080022	0	Cell cycle control protein	BrainSpLMD|1026	OMIM|116899;COSMIC||bladder cancer;HPO|1026|Adrenocortical adenoma, Angiofibromas, Diarrhea, Elevated circulating parathyroid hormone level, Episodic abdominal pain, Esophagitis, Fasting hyperinsulinemia, Growth hormone excess, Hypercalcemia, Hyperinsulinemic hypoglycemia, Hyperparathyroidism, Insulinoma, Parathyroid adenoma, Parathyroid hyperplasia, Peptic ulcer, Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary prolactin cell adenoma, Subcutaneous lipoma, Thyroid adenoma, Zollinger-Ellison syndrome
U1	RPL23A	0.727930408	0	RNA binding protein		OMIM|602326
U1	NOLC1	0.70511822	0	Transcription factor	BrainSpLMD|9221	OMIM|602394
U1	RPS26P6	0.683675421	0			
U1	KCTD12	0.683179437	0	Ion channel	BrainSpLMD|115207;BrainSpMouseDev|88550	OMIM|610521
U1	SRSF3	0.682348666	0	RNA binding protein	BrainSpLMD|6428	OMIM|603364;COSMIC||follicular lymphoma
U1	RP4.706A16.3	0.673943576	0			
U1	TPI1	0.666955216	0	Enzyme: Isomerase	BrainSpLMD|7167	OMIM|190450;HPO|7167|Abnormality of immune system physiology, Autosomal recessive inheritance, Central nervous system degeneration, Cholecystitis, Cholelithiasis, Chronic hemolytic anemia, Congestive heart failure, Diaphragmatic paralysis, Dystonia, Generalized hypotonia, Global developmental delay, Hemolytic anemia, Hyporeflexia, Jaundice, Kyphosis, Muscular hypotonia, Myopathy, Normochromic anemia, Normocytic anemia, Peripheral neuropathy, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Splenomegaly, Tremor, Unsteady gait
U1	ATF4	0.664800562	0	Transcription factor	BrainSpLMD|468;BrainSpMouseDev|11698	OMIM|604064
U1	RP11.572P18.1	0.660481207	0			
U1	RPL3	0.6572451	0	Ribosomal subunit		OMIM|604163
U1	CYR61	0.652993103	0	Extracellular matrix protein	BrainSpLMD|3491;BrainSpMouseDev|15780	OMIM|602369
U1	CTC.575D19.1	0.652963339	0			
U1	TIMP2	0.639595925	0	Extracellular matrix protein	BrainSpLMD|7077	OMIM|188825
U1	STAT3	0.616612135	0	Transcription factor	BrainSpLMD|6774;Eurexp|euxassay_004868|axial skeleton, choroid invagination, dorsal grey horn, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mantle layer, mesenchyme, metatarsus, phalanx, thymus primordium, trigeminal V, ventral grey horn, ventricular layer;BrainSpMouseDev|20610	OMIM|102582;COSMIC||T-cell large granular lymphocytic leukaemia, paediatric large granular lymphocytic leukaemia, IPEX-like syndrome;HPO|6774|Abnormal heart morphology, Abnormality of the hair, Arthrogryposis multiplex congenita, Atelectasis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Autosomal dominant inheritance, Bilateral ptosis, Celiac disease, Chronic otitis media, Cleft palate, Coarse facial features, Contractures of the joints of the lower limbs, Cough, Decreased antibody level in blood, Deeply set eye, Dehydration, Delayed eruption of teeth, Downturned corners of mouth, Dystrophic fingernails, Eczema, Eczematoid dermatitis, Eosinophilia, Failure to thrive, Frontal bossing, Generalized abnormality of skin, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Gingivitis, Global developmental delay, Glycosuria, High palate, Hyperglycemia, Hypertelorism, Hypovolemia, Increased IgE level, Infantile onset, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Ketonuria, Microalbuminuria, Motor delay, Neonatal insulin-dependent diabetes mellitus, Osteopenia, Papule, Paronychia, Persistence of primary teeth, Prominent forehead, Prominent metopic ridge, Pruritus, Recurrent Staphylococcus aureus infections, Recurrent fractures, Recurrent fungal infections, Recurrent respiratory infections, Recurrent sinopulmonary infections, Reduced pancreatic beta cells, Retinopathy, Scoliosis, Short stature, Skin rash, Skin ulcer, Weight loss, Wide nasal bridge, Wide nose
U1	RPS26	0.600226854	0	Ribosomal subunit	Eurexp|euxassay_007095|embryo	OMIM|603701;HPO|6231|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Infantile onset, Macrocytic anemia, Migraine, Pallor, Reticulocytopenia
U1	RPS3	0.572976973	0	Ribosomal subunit		OMIM|600454
U1	SRSF6	0.563960491	0	RNA binding protein	BrainSpLMD|6431;Eurexp|euxassay_012639|pituitary, ventricular layer, vibrissa	OMIM|601944
U1	MTND1P23	0.552916434	0			
U1	RPS3A	0.546323287	0	Ribosomal subunit		OMIM|180478
U1	EGR1	0.537286729	0	Transcription factor	BrainSpLMD|1958;Eurexp|euxassay_008911|mesenchyme;BrainSpMouseDev|13431	OMIM|128990
U1	EEF1A1P6	0.49382691	0			
U1	MT.CYB	0.485145441	0			
U1	RPS18	0.482888863	0	Ribosomal subunit	BrainSpLMD|6222	OMIM|180473
U1	RPL13A	0.480418465	0	Ribosomal subunit		
U1	RPLP1	0.469712246	0	Ribosomal subunit		OMIM|180520
U1	RPL23	0.419389057	0	Ribosomal subunit	BrainSpLMD|9349	OMIM|603662
U1	RPL15	0.414444012	0	Ribosomal subunit	BrainSpLMD|6138	OMIM|604174;HPO|6138|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Elevated red cell adenosine deaminase activity, Fatigue, Macrocytic anemia, Migraine, Normochromic anemia, Pallor, Reticulocytopenia, Triphalangeal thumb, Ventricular septal defect
U1	AC004057.1	0.399395401	0			
U1	WNT5A	0.369259194	0	Ligand	BrainSpLMD|7474;BrainSpMouseDev|22175	OMIM|164975;HPO|7474|Anteverted nares, Autosomal dominant inheritance, Bifid distal phalanx of toe, Bifid tongue, Brachydactyly, Broad thumb, Broad toe, Clinodactyly, Clinodactyly of the 5th finger, Clitoral hypoplasia, Cryptorchidism, Curly eyelashes, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Downturned corners of mouth, Duplication of the distal phalanx of hand, Epicanthus, Euryblepharon, Flat face, Frontal bossing, Gingival overgrowth, Global developmental delay, Hemivertebrae, High, narrow palate, Hydronephrosis, Hypertelorism, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic labia minora, Inguinal hernia, Intellectual disability, Long eyelashes, Long palpebral fissure, Long philtrum, Macrocephaly, Macroglossia, Malar flattening, Median cleft lip and palate, Mesomelia, Micrognathia, Micromelia, Micropenis, Midface retrusion, Nevus flammeus, Open bite, Pectus excavatum, Posteriorly rotated ears, Prominent forehead, Proptosis, Radial deviation of finger, Renal duplication, Retrognathia, Right ventricular outlet obstruction, Severe short stature, Short hard palate, Short middle phalanx of the 5th finger, Short nose, Short palm, Thin upper lip vermilion, Triangular mouth, Umbilical hernia, Upslanted palpebral fissure, Wide anterior fontanel, Wide nasal bridge, Wide nose
U1	FTL	0.362010246	0	Storage protein	BrainSpLMD|2512	OMIM|134790;HPO|2512|Abnormality of metabolism/homeostasis, Anarthria, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Blepharospasm, Bradykinesia, Cataract, Cavitation of the basal ganglia, Chorea, Choreoathetosis, Congenital nuclear cataract, Decreased serum ferritin, Dementia, Disinhibition, Dysarthria, Dysphagia, Dysphonia, Dystonia, Emotional lability, Gait disturbance, Hyperreflexia, Hypomimic face, Increased serum ferritin, Laryngeal dystonia, Mutism, Neurodegeneration, Optic atrophy, Orofacial dyskinesia, Parkinsonism, Phenotypic variability, Progressive, Retinal degeneration, Rigidity, Spastic diplegia, Spasticity, Tremor, Writer's cramp
U1	RPS6	0.3580441	0	Ribosomal subunit	BrainSpLMD|6194	OMIM|180460
U1	RPL9	0.344761773	0	Ribosomal subunit	BrainSpLMD|6133	OMIM|603686
U1	RPL41	0.299315064	0	Unclassified	BrainSpLMD|6171	OMIM|613315
U1	ITGB5	2.597521996	1.11E-16	Adhesion molecule	BrainSpLMD|3693	OMIM|147561
U1	CACNA1G	1.622687953	1.11E-16	Voltage gated channel	BrainSpLMD|8913;BrainSpMouseDev|12076	SFARI||Autism, 4 - Minimal evidence;OMIM|604065;HPO|8913|Autosomal dominant inheritance, Cerebellar atrophy, Cognitive impairment, Depressivity, Diplopia, Horizontal nystagmus, Loss of Purkinje cells in the cerebellar vermis, Slow progression, Spastic ataxia, Unsteady gait
U1	EMP2	1.426448694	1.11E-16	Cell cycle control protein	BrainSpLMD|2013;Eurexp|euxassay_013721|bladder, epithelium, incisor, larynx, left lung, mantle layer, marginal layer, midgut, molar, pharyngo-tympanic tube, rectum, right lung, skeletal muscle, stomach, thymus primordium, trachea, urethra, ventricular layer, vibrissa	OMIM|602334;HPO|2013|Autosomal recessive inheritance, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome
U1	OMD	1.341883352	1.11E-16	Adhesion molecule	BrainSpLMD|4958	COSMIC||aneurysmal bone cyst
U1	PHACTR2	1.191018066	1.11E-16	Enzyme regulator	BrainSpLMD|9749;Eurexp|euxassay_007706|alimentary system, cardiovascular system, cavities and their linings, choroid invagination, choroid plexus, gland, integumental system, limb, mesenchyme, renal/urinary system, reproductive system, respiratory system, roof plate, sensory organ, tail, ventricular layer, vertebral axis muscle system	OMIM|608724
U1	RP11.592N21.1	1.029760941	1.11E-16			
U1	STAT2	0.686596434	1.11E-16	Transcription factor	BrainSpLMD|6773	OMIM|600556;HPO|6773|Autosomal recessive inheritance, Variable expressivity
U1	EIF1	0.668171907	1.11E-16	Translation regulatory protein	BrainSpLMD|10209	
U1	ID2	0.65505678	1.11E-16	Transcription regulatory protein	BrainSpLMD|3398;BrainSpMouseDev|15675	OMIM|600386
U1	TOB1	0.616286654	1.11E-16	Adapter molecule	BrainSpLMD|10140	OMIM|605523
U1	SSR4	0.500962325	1.11E-16	Membrane transport protein	BrainSpLMD|6748;Eurexp|euxassay_002889|Meckel's cartilage, axial skeleton, basisphenoid bone, chondrocranium, exoccipital bone, incisor, lobe, molar, nasal capsule, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, rib, submandibular gland primordium, thymus primordium, turbinate	OMIM|300090;HPO|6748|Abnormal facial shape, Abnormality of upper lip vermillion, Clinodactyly, Congenital onset, Deeply set eye, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hypospadias, Intellectual disability, Joint dislocation, Macrotia, Microcephaly, Micrognathia, Scoliosis, Seizures, Strabismus, Type I transferrin isoform profile, Vomiting, Wide mouth, Widely spaced teeth, X-linked recessive inheritance
U1	GSTP1	0.459074076	1.11E-16	Enzyme: Glutathione transferase	BrainSpLMD|2950;Eurexp|euxassay_006221|lobe	OMIM|134660
U1	PAQR7	0.442545855	1.11E-16	Cell surface receptor	BrainSpLMD|164091;Eurexp|euxassay_006273|ventricular layer	OMIM|607779
U1	MYL6	0.334366168	1.11E-16	Cytoskeletal protein	BrainSpLMD|4637	OMIM|609931
U1	IGF1	2.006950477	2.22E-16	Growth factor	BrainSpLMD|3479;BrainSpMouseDev|15773	OMIM|147440;HPO|3479|Abnormal facial shape, Abnormality of metabolism/homeostasis, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Clinodactyly, Clinodactyly of the 5th finger, Congenital onset, Congenital sensorineural hearing impairment, Decreased body weight, Delayed eruption of teeth, Delayed skeletal maturation, Failure to thrive, Hyperactivity, Hypogonadism, Insulin resistance, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Microcephaly, Micrognathia, Motor delay, Neonatal hyperbilirubinemia, Osteopenia, Osteoporosis, Prelingual sensorineural hearing impairment, Ptosis, Radial deviation of finger, Sensorineural hearing impairment, Severe intrauterine growth retardation, Severe postnatal growth retardation, Short attention span, Short stature, Small for gestational age, Small placenta
U1	LEPREL2	1.950254021	2.22E-16			
U1	SHISA2	1.483256134	2.22E-16	Integral membrane protein	BrainSpLMD|387914	OMIM|617324
U1	RARRES2	1.285647783	2.22E-16	Cell surface receptor	BrainSpLMD|5919	OMIM|601973
U1	NUCKS1	0.611447541	2.22E-16	DNA binding protein	BrainSpLMD|64710	OMIM|611912
U1	FAM133CP	2.678464994	3.33E-16			
U1	TNS1	2.389071042	3.33E-16	Adhesion molecule	BrainSpLMD|7145	OMIM|600076
U1	EOGT	1.576672028	3.33E-16	Enzyme: Glycosyltransferase	BrainSpLMD|285203;Eurexp|euxassay_007775|aorta, embryo, left lung, mantle layer, meninges, right lung	OMIM|614789;HPO|285203|Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aplasia cutis congenita, Autosomal recessive inheritance, Brachydactyly, Calvarial skull defect, Cataract, Cutis marmorata, Failure to thrive, Finger syndactyly, Hydrocephalus, Hypoplastic toenails, Microphthalmia, Phenotypic variability, Pulmonary artery atresia, Short distal phalanx of finger, Sparse hair, Split hand, Strabismus, Talipes, Tetralogy of Fallot, Toenail dysplasia
U1	PCF11	1.229152688	3.33E-16	RNA binding protein	BrainSpLMD|51585	OMIM|608876
U1	HTRA1	0.404875629	3.33E-16	Serine protease	BrainSpLMD|5654;Eurexp|euxassay_005061|anterior abdominal wall, aorta, axial muscle, axial skeleton, choroid plexus, diaphragm, humerus, incisor, lung, mesenchyme, metatarsus, molar, nucleus pulposus, pancreas, pelvic girdle, pharyngo-tympanic tube, rest of mesenchyme, rest of mesencyme, roof plate, scapula, skeletal muscle, sternum, tongue, trachea, ventricular layer, vibrissa	OMIM|602194;HPO|5654|Abnormality of extrapyramidal motor function, Alopecia, Arteriosclerosis of small cerebral arteries, Ataxia, Autosomal recessive inheritance, Babinski sign, Dementia, Diffuse demyelination of the cerebral white matter, Diffuse white matter abnormalities, Dysarthria, Gait disturbance, Hyperreflexia, Leukoencephalopathy, Low back pain, Progressive encephalopathy, Pseudobulbar signs, Rigidity, Spasticity, Urinary incontinence
U1	CD44	2.144919951	4.44E-16	Cell surface receptor	BrainSpLMD|960;Eurexp|euxassay_011897|axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, orbito-sphenoid, petrous part, scapula, tibia, turbinate;BrainSpMouseDev|12290	SFARI||Autism, 5 - Hypothesized but untested;OMIM|107269
U1	SLC40A1	1.876753241	4.44E-16	Transport/cargo protein	BrainSpLMD|30061;Eurexp|euxassay_003910|bladder, brain, cervical region, footplate, handplate, liver, lumbar region, lung, mesenchyme, metanephros, midgut, rectum, renal/urinary system, rib, sacral region, spinal cord, thoracic region, vibrissa;BrainSpMouseDev|33240	OMIM|604653;HPO|30061|Abdominal pain, Arrhythmia, Arthralgia, Autosomal dominant inheritance, Cardiomyopathy, Cataract, Fatigue, Generalized hyperpigmentation, Glucose intolerance, Hepatic steatosis, Impotence, Increased serum ferritin, Joint dislocation, Joint swelling, Limitation of joint mobility, Osteoarthritis
U1	RECK	1.754227199	4.44E-16	Cell cycle control protein	BrainSpLMD|8434	OMIM|605227
U1	PDCD4	1.280002742	4.44E-16	Unclassified	BrainSpLMD|27250;Eurexp|euxassay_010730|epidermis, epithelium, floor plate, floorplate, larynx, olfactory, sternum, thymus primordium, urethra, ventricular layer	OMIM|608610
U1	PTPN13	1.162716259	4.44E-16	Tyrosine phosphatase	BrainSpLMD|5783	OMIM|600267;COSMIC||lung, NSCLC, gastric, peritoneal carcinomatosis, hepatocellular
U1	MXRA8	1.027706733	4.44E-16	Immunoglobulin	BrainSpLMD|54587;Eurexp|euxassay_006017|4th ventricle, aortic valve, choroid plexus, clavicle, mandible, maxilla, mitral valve, orbito-sphenoid, premaxilla, pulmonary valve, rib, tricuspid valve	OMIM|617293
U1	POLR2L	0.472358294	4.44E-16	RNA polymerase	BrainSpLMD|5441;Eurexp|euxassay_019574|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, liver, lung, midgut, nucleus pulposus, oesophagus, pancreas, stomach, submandibular gland primordium, testis, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|601189
U1	MLF1	0.793008349	5.55E-16	Unclassified	BrainSpLMD|4291;Eurexp|euxassay_009918|choroid invagination, choroid plexus, roof plate	OMIM|601402;COSMIC||AML
U1	PRDM11	1.265295082	6.66E-16	Transcription factor	BrainSpLMD|56981	OMIM|616347
U1	PPRC1	0.920049847	6.66E-16	Transcription regulatory protein	BrainSpLMD|23082	OMIM|617462
U1	PDIA5	1.92124947	7.77E-16	Chaperone	BrainSpLMD|10954;Eurexp|euxassay_010598|clavicle, mandible, maxilla, orbito-sphenoid, rib	OMIM|616942
U1	DCTD	1.739157466	7.77E-16	Enzyme: Deaminase	BrainSpLMD|1635;Eurexp|euxassay_003473|lung, metanephros, midgut, olfactory, orbito-sphenoid, pancreas, respiratory, submandibular gland primordium, thymus primordium, vibrissa	OMIM|607638
U1	NAMPTL	1.33732203	7.77E-16			
U1	ITGB1	1.213820187	7.77E-16	Cell surface receptor	BrainSpLMD|3688;Eurexp|euxassay_010970|aorta, bladder, clavicle, floor plate, floorplate, lung, mandible, maxilla, midgut, oesophagus, orbito-sphenoid, rib, stomach, submandibular gland primordium;BrainSpMouseDev|16185	OMIM|135630
U1	COPA	0.808329974	7.77E-16	Transport/cargo protein	BrainSpLMD|1314;Eurexp|euxassay_003303|clavicle, mandible, maxilla, rib	OMIM|601924
U1	ITM2B	0.625303676	7.77E-16	Integral membrane protein	BrainSpLMD|9445	OMIM|603904;HPO|9445|Ataxia, Autosomal dominant inheritance, Cerebral amyloid angiopathy, Dementia, Hearing impairment, Hypertonia, Intention tremor, Neurofibrillary tangles, Optic disc pallor, Photophobia, Posterior polar cataract, Progressive neurologic deterioration, Psychosis, Retinal dystrophy, Rigidity, Spasticity, Tremor
U1	MCL1	0.605940454	7.77E-16	Chaperone	BrainSpLMD|4170	OMIM|159552
U1	DSE	1.87160335	8.88E-16	Unclassified	BrainSpLMD|29940	OMIM|605942;HPO|29940|Adducted thumb, Arachnodactyly, Autosomal recessive inheritance, Blue sclerae, Brachycephaly, Delayed gross motor development, Dental crowding, Downslanted palpebral fissures, Frontal bossing, Generalized muscle weakness, High palate, Inguinal hernia, Patent foramen ovale, Protruding ear, Talipes equinovarus, Telecanthus
U1	VCAN	1.083907787	9.99E-16	Extracellular matrix protein	BrainSpLMD|1462	OMIM|118661;HPO|1462|Autosomal dominant inheritance, Cataract, Chorioretinal atrophy, Glaucoma, Myopia, Optic atrophy, Optically empty vitreous, Peripheral traction retinal detachment, Retinal pigment epithelial atrophy, Visual field defect, Visual loss, Vitreoretinal degeneration
U1	NUCB2	1.011423214	9.99E-16	Calcium binding protein	BrainSpLMD|4925;BrainSpMouseDev|32802	OMIM|608020
U1	SEMA5A	0.674918624	9.99E-16	Unclassified	BrainSpLMD|9037;BrainSpMouseDev|20119	SFARI||Autism, 3 - Suggestive evidence;OMIM|609297;HPO|9037|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
U1	FGF2	1.742666036	1.11E-15	Growth factor	BrainSpLMD|2247;BrainSpMouseDev|13950	OMIM|134920
U1	WLS	1.148845151	1.22E-15	Integral membrane protein	BrainSpLMD|79971	OMIM|611514
U1	TPI1P1	0.369331435	1.22E-15			
U1	ZCCHC24	2.054274704	1.33E-15	DNA binding protein	BrainSpLMD|219654	
U1	PRDX6	1.106402259	1.44E-15	Enzyme: Peroxidase	BrainSpLMD|9588;Eurexp|euxassay_018727|floor plate, floorplate, hepatic duct, left lung, liver, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, olfactory, pancreas, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|602316
U1	15-Sep	0.785600538	1.55E-15			
U1	PDIA3	0.740471479	1.55E-15	Enzyme: Isomerase		OMIM|602046
U1	NFATC4	1.783310188	1.67E-15	Transcription factor	BrainSpLMD|4776;BrainSpMouseDev|49022	OMIM|602699
U1	STARD13	1.613435732	1.78E-15	GTPase activating protein	BrainSpLMD|90627	OMIM|609866
U1	SLC39A7	1.424345081	1.89E-15	Membrane transport protein	BrainSpLMD|7922	OMIM|601416
U1	PAPPA	1.049013706	1.89E-15	Metallo protease	BrainSpLMD|5069	OMIM|176385
U1	SNHG5	0.63030733	1.89E-15			OMIM|613263
U1	PIEZO2	2.29245879	2.00E-15	Unclassified	BrainSpLMD|63895	OMIM|613629;HPO|63895|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the rib cage, Abnormality of the sternum, Absent palmar crease, Absent phalangeal crease, Agenesis of corpus callosum, Anteverted nares, Aplasia/Hypoplasia involving the skeletal musculature, Arachnodactyly, Areflexia, Arthrogryposis multiplex congenita, Astigmatism, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Bifid uvula, Bilateral talipes equinovarus, Blepharophimosis, Broad-based gait, Camptodactyly, Camptodactyly of finger, Camptodactyly of toe, Cerebellar hypoplasia, Cleft palate, Clinodactyly, Congenital contracture, Congenital finger flexion contractures, Congenital hip dislocation, Cryptorchidism, Cutaneous finger syndactyly, Dandy-Walker malformation, Decreased facial expression, Decreased hip abduction, Decreased muscle mass, Decreased palmar creases, Deeply set eye, Deviation of finger, Dextrocardia, Dimple chin, Distal arthrogryposis, Down-sloping shoulders, Duane anomaly, Dysarthria, Epicanthus, Facial asymmetry, Failure to thrive, Feeding difficulties, Firm muscles, Fixed facial expression, Generalized hypotonia, Global developmental delay, High palate, High, narrow palate, Hip dysplasia, Hypertelorism, Hypoplasia of the brainstem, Hypospadias, Inability to walk, Inferior vermis hypoplasia, Inguinal hernia, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Joint stiffness, Keratoconus, Keratoglobus, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Limited wrist extension, Long nose, Long philtrum, Low-set ears, Lumbar hyperlordosis, Macrotia, Mask-like facies, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Motor delay, Muscular dystrophy, Muscular hypotonia, Myopathic facies, Narrow mouth, Ophthalmoplegia, Optic atrophy, Overlapping toe, Pectus carinatum, Pectus excavatum, Pes planus, Poor head control, Posteriorly rotated ears, Postnatal growth retardation, Primitive reflex, Progressive, Protruding ear, Ptosis, Pulmonary hypoplasia, Pyloric stenosis, Radioulnar synostosis, Renal hypoplasia, Respiratory insufficiency, Restrictive ventilatory defect, Retrognathia, Scoliosis, Seizures, Sensory ataxia, Sensory axonal neuropathy, Severe short stature, Short neck, Short palpebral fissure, Short phalanx of finger, Short stature, Single transverse palmar crease, Skeletal muscle atrophy, Specific learning disability, Strabismus, Submucous cleft hard palate, Talipes, Talipes equinovarus, Thin upper lip vermilion, Thoracolumbar scoliosis, Triangular face, Ulnar deviation of the hand or of fingers of the hand, Visual impairment, Wide anterior fontanel, Wide nasal bridge, Zollinger-Ellison syndrome
U1	FBXO17	0.842599366	2.00E-15	Ubiquitin proteasome system protein	BrainSpLMD|115290	OMIM|609094
U1	PIGT	1.259065897	2.11E-15	Enzyme: Aminotransferase	BrainSpLMD|51604	OMIM|610272;HPO|51604|Abdominal pain, Abnormality of the dentition, Arthralgia, Autosomal dominant inheritance, Autosomal recessive inheritance, Brachycephaly, Cerebellar hypoplasia, Cerebral atrophy, Deep philtrum, Delayed skeletal maturation, Depressed nasal bridge, Diarrhea, Downturned corners of mouth, Dyspnea, EEG abnormality, Fatigue, Generalized hypotonia, Global developmental delay, Headache, Hemolytic anemia, High forehead, High palate, Hypercalciuria, Hypermetropia, Hypoplasia of the ulna, Infantile onset, Inverted nipples, Large for gestational age, Long philtrum, Macrocephaly, Narrow forehead, Nephrocalcinosis, Nystagmus, Open mouth, Osteopenia, Osteoporosis, Paroxysmal nocturnal hemoglobinuria, Patent ductus arteriosus, Pectus excavatum, Renal cyst, Restrictive cardiomyopathy, Scoliosis, Seizures, Somatic mutation, Strabismus, Ureteral stenosis, Urticaria, Visual impairment
U1	COL25A1	1.806842318	2.33E-15	Extracellular matrix protein	BrainSpLMD|84570	OMIM|610004;HPO|84570|Abnormal vertebral segmentation and fusion, Anteverted nares, Autosomal recessive inheritance, Blepharophimosis, Congenital onset, Deeply set eye, Low posterior hairline, Oculomotor nerve palsy, Ptosis, Sensorineural hearing impairment, Short palpebral fissure, Strabismus
U1	RPL8	0.303054037	2.55E-15	Ribosomal subunit	BrainSpLMD|6132;Eurexp|euxassay_006230|left, right	OMIM|604177
U1	SLC38A2	0.94393865	2.78E-15	Transport/cargo protein	BrainSpLMD|54407;Eurexp|euxassay_019685|adrenal gland, clavicle, incisor, lung, meninges, metanephros, molar, neural retina, phalanx, submandibular gland primordium, turbinate bones, vibrissa	OMIM|605180
U1	ETS2	1.808581056	2.89E-15	Transcription factor	BrainSpLMD|2114;Eurexp|euxassay_011879|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, nasal septum, orbito-sphenoid, otic capsule, petrous part, rib, scapula, tibia, turbinate, vault of skull;BrainSpMouseDev|23625	OMIM|164740
U1	RAB33B	1.244652759	2.89E-15	GTPase	BrainSpLMD|83452	OMIM|605950;HPO|83452|Autosomal recessive inheritance, Barrel-shaped chest, Broad femoral neck, Broad phalanx, Decreased body weight, Disproportionate short-trunk short stature, Flattened femoral head, Genu valgum, Hypoplasia of the odontoid process, Pectus carinatum, Pes planus, Platyspondyly, Short metacarpal, Short metatarsal, Short neck, Short phalanx of finger
U1	SPINT2	1.371184761	3.11E-15	Protease inhibitor	BrainSpLMD|10653;Eurexp|euxassay_010770|bladder, calyces, choroid invagination, choroid plexus, cochlea, cornea, ductus deferens, ear, epidermis, epithelium, incisor, larynx, left lung, mantle layer, metanephros, midgut, molar, olfactory, oral epithelium, pancreas, pelvis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, respiratory, right lung, roof plate, stomach, submandibular gland primordium, thymus primordium, thyroid, urethra, utricle, ventricle, vibrissa, vomeronasal organ;BrainSpMouseDev|20495	OMIM|605124;HPO|10653|Abdominal distention, Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Choanal atresia, Corneal erosion, Hypertelorism, Polyhydramnios, Secretory diarrhea
U1	ARL6IP5	0.525768353	3.44E-15	Unclassified	BrainSpLMD|10550	OMIM|605709
U1	NANS	1.470277502	3.55E-15	Enzyme: Synthase	BrainSpLMD|54187;Eurexp|euxassay_012123|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, metatarsus, naris, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rest of skin, rib, scapula, tarsus, tibia, turbinate bones, vault of skull	OMIM|605202;HPO|54187|Abnormality of the pinna, Abnormality of the skin, Ataxia, Autosomal recessive inheritance, Brachycephaly, Carpal bone hypoplasia, Coarse facial features, Epicanthus, Flared metaphysis, Flat acetabular roof, Generalized hypotonia, Hirsutism, Intellectual disability, severe, Irregular epiphyses, Irregular vertebral endplates, Long fibula, Low anterior hairline, Low posterior hairline, Metaphyseal irregularity, Microcephaly, Narrow iliac wings, Nystagmus, Platyspondyly, Posterior scalloping of vertebral bodies, Prominent forehead, Short femoral neck, Short neck, Small epiphyses, Spondyloepimetaphyseal dysplasia, Synophrys, Thick lower lip vermilion, Wide nose
U1	GOLGA2	0.629049691	3.66E-15	Structural protein	BrainSpLMD|2801;Eurexp|euxassay_010595|clavicle, mandible, maxilla, rib	OMIM|602580
U1	PRCP	0.523287015	3.77E-15	Carboxypeptidase	BrainSpLMD|5547;Eurexp|euxassay_006670|axial muscle, basioccipital bone, lobe, lung, mandible, maxilla, meninges, mesenchyme, orbito-sphenoid, rib, skeletal muscle, thymus primordium	OMIM|176785
U1	PCDH9	0.314315039	3.77E-15	Adhesion molecule	BrainSpLMD|5101;Eurexp|euxassay_014258|facial VII, mantle layer, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|603581
U1	ARF1	0.723286312	4.33E-15	GTPase	BrainSpLMD|375	OMIM|103180
U1	TSC22D3	1.850623576	4.77E-15	Transcription regulatory protein	BrainSpLMD|1831;Eurexp|euxassay_000517|facial bones primordia, optic foramen, orbital fissure, orbito-sphenoid, otic capsule, turbinate, vestibular component;BrainSpMouseDev|14381	OMIM|300506
U1	C6orf48	0.504003232	4.88E-15	Unclassified	BrainSpLMD|50854	OMIM|605447
U1	CBX6	0.657511329	5.00E-15	DNA binding protein	BrainSpLMD|23466	OMIM|617438
U1	RPLP0	0.31230141	5.00E-15	Ribosomal subunit	BrainSpLMD|6175	OMIM|180510
U1	UACA	0.933722634	5.33E-15	Unclassified	BrainSpLMD|55075	OMIM|612516
U1	PLSCR1	1.780791237	5.77E-15	Integral membrane protein	BrainSpLMD|5359;Eurexp|euxassay_008744|calyces, hindgut, midgut, pelvis	OMIM|604170
U1	DUSP7	2.024567261	6.11E-15	Dual specificity phosphatase	BrainSpLMD|1849	OMIM|602749
U1	RUNX1	1.688366436	6.11E-15	Transcription factor	BrainSpLMD|861;Eurexp|euxassay_019458|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, cricoid, dorsal root ganglion, epithelium, facial VII, femur, fibula, glossopharyngeal IX, incisor, larynx, mandible, mantle layer, maxilla, metatarsus, molar, olfactory, orbito-sphenoid, pelvic girdle, phalanx, pharyngo-tympanic tube, rib, sternum, stomach, thymus primordium, thyroid, tibia, trachea, trigeminal V, turbinate, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|12179	OMIM|151385;COSMIC||AML, pre B-ALL, T-ALL;HPO|861|Abnormality of basophils, Acute monocytic leukemia, Acute myeloid leukemia, Autosomal dominant inheritance, Bruising susceptibility, Epistaxis, Fatigue, Fever, Impaired platelet aggregation, Leukocytosis, Lymphoma, Myelodysplasia, Myeloproliferative disorder, Neuroblastoma, Poor appetite, Prolonged bleeding time, Splenomegaly, Thrombocytopenia, Thrombocytosis
U1	CD34	1.450509556	6.11E-15	Adhesion molecule	BrainSpLMD|947;Eurexp|euxassay_000612|adrenal gland, calyces, epidermis, epithelium, foregut-midgut junction, hindgut, lower jaw, lung, mesenchyme, midgut, oral epithelium, pharyngo-tympanic tube, testis, tongue, vertebral axis muscle system	OMIM|142230
U1	HM13	1.062948916	6.88E-15	Protease	BrainSpLMD|81502	OMIM|607106
U1	RPL21	0.446725349	6.99E-15	Ribosomal subunit		OMIM|603636;HPO|6144|Alopecia, Aplasia/Hypoplasia of the eyebrow, Autosomal dominant inheritance, Hypotrichosis, Hypotrichosis of the scalp, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Sparse or absent eyelashes
U1	YIF1A	1.401877649	7.55E-15	Integral membrane protein	BrainSpLMD|10897	OMIM|611484
U1	GSTM3	0.85070836	7.66E-15	Enzyme: Glutathione transferase	BrainSpLMD|2947;Eurexp|euxassay_018935|atrio-ventricular canal, axial muscle, basioccipital bone, basisphenoid bone, brain, central nervous system, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, labyrinth, lens, liver, mantle layer, nasal septum, neural retina, nucleus pulposus, olfactory, orbito-sphenoid, otic capsule, renal/urinary system, sphenoid, spinal cord, testis, trigeminal V, turbinate bones, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|138390
U1	UBB	0.473271763	7.77E-15	Ubiquitin proteasome system protein	BrainSpLMD|7314	OMIM|191339;HPO|7314|Anterior open-bite malocclusion, Autosomal dominant inheritance, Cleft palate, Gingival overgrowth, Intellectual disability, profound, Micrognathia, Overbite, Seizures
U1	NFATC2	1.463136531	8.22E-15	Transcription factor	BrainSpLMD|4773;Eurexp|euxassay_013856|lip;BrainSpMouseDev|17786	OMIM|600490;COSMIC||Ewing sarcoma
U1	COPB1	1.003886644	8.44E-15	Transport/cargo protein	BrainSpLMD|1315;Eurexp|euxassay_012132|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, rib, tibia, turbinate bones, vault of skull	OMIM|600959
U1	TAF13	0.918900636	9.33E-15	Transcription factor	BrainSpLMD|6884;Eurexp|euxassay_001598|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, submandibular gland primordium, trigeminal V, vagus X;BrainSpMouseDev|63900	OMIM|600774;HPO|6884|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Delayed puberty, Delayed skeletal maturation, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Small for gestational age, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vesicoureteral reflux
U1	CPXM1	2.118125323	1.01E-14	Unclassified	BrainSpLMD|56265	OMIM|609555
U1	TNFRSF10D	2.80539706	1.03E-14	Cell surface receptor	BrainSpLMD|8793	OMIM|603614
U1	CTB.119C2.1	1.235890254	1.25E-14			
U1	RABAC1	0.701750263	1.63E-14	GTPase activating protein	BrainSpLMD|10567;Eurexp|euxassay_000239|dorsal root ganglion, facial VII, glossopharyngeal IX, medulla oblongata, metencephalon, spinal, spinal cord, trigeminal V, vagus X	OMIM|604925
U1	GOLGA3	1.057544985	1.77E-14	Structural protein	BrainSpLMD|2802	OMIM|602581
U1	SNX2	0.906295749	2.00E-14	Transport/cargo protein	BrainSpLMD|6643	OMIM|605929
U1	SORBS3	0.366299101	2.10E-14	Adhesion molecule	BrainSpLMD|10174;Eurexp|euxassay_004300|ventricle	OMIM|610795
U1	EGFR	0.958419755	2.33E-14	Receptor tyrosine kinase	BrainSpLMD|1956;Eurexp|euxassay_002564|axial skeleton, cervical region, diaphragm, epidermis, intermediate grey horn, lumbar region, mandible, mantle layer, maxilla, mesenchyme, nasal septum, phalanx, pharyngo-tympanic tube, primary palate, rib, sacral region, thoracic region, trachea, turbinate bones, upper arm, ventricular layer, vibrissa;BrainSpMouseDev|13427	OMIM|131550;COSMIC||glioma, NSCLC, NSCLC;HPO|1956|Alveolar cell carcinoma, Autosomal recessive inheritance, Epidermal acanthosis, Failure to thrive, Hypertension, Long eyelashes, Papule, Pustule, Recurrent bronchiolitis, Recurrent pneumonia, Vomiting
U1	PRICKLE2	1.848699729	2.39E-14	Unclassified	BrainSpLMD|166336	SFARI||Autism, 3 - Suggestive evidence;OMIM|608501
U1	PLIN3	1.900199548	2.80E-14	Transport/cargo protein	BrainSpLMD|10226;Eurexp|euxassay_007119|bladder, choroid plexus, metanephros, midgut, nasal septum, nucleus pulposus, skeletal muscle, stomach, turbinate bones, urethra, vascular element	OMIM|602702
U1	SNORD99	0.904319094	2.88E-14			
U1	KDELR1	0.730721723	2.88E-14	Unclassified	BrainSpLMD|10945	OMIM|131235
U1	CD55	1.756726136	3.08E-14	Complement protein	BrainSpLMD|1604;Eurexp|euxassay_009544|aorta, associated mesenchyme, bladder, left lung, liver, mesenchyme, mesentery, metanephros, oesophagus, olfactory, palatal shelf, right lung, stomach, trigeminal V	OMIM|125240;HPO|1604|Abdominal pain, Abnormality of the intestine, Ascites, Autosomal recessive inheritance, Budd-Chiari syndrome, Clubbing, Diarrhea, Edema, Growth delay, Hypoproteinemia, Iron deficiency anemia
U1	NBPF10	1.278740974	3.24E-14			OMIM|614000
U1	KIAA1683	1.613082851	3.28E-14			
U1	UGGT2	1.27159553	3.29E-14	Enzyme: Glycosyltransferase	BrainSpLMD|55757	OMIM|605898
U1	ANXA4	2.39403531	3.32E-14	Calcium binding protein	BrainSpLMD|307;Eurexp|euxassay_000677|foregut-midgut junction, hindgut, lung, midgut, stomach, testis;BrainSpMouseDev|11533	OMIM|106491
U1	WIPF1	1.53512259	3.62E-14	Cytoskeletal associated protein	BrainSpLMD|7456	OMIM|602357;HPO|7456|Abnormal platelet morphology, Abnormality of eosinophils, Autoimmunity, Autosomal recessive inheritance, Bruising susceptibility, Chronic diarrhea, Chronic obstructive pulmonary disease, Chronic otitis media, Decreased number of CD8+ T cells, Dyspnea, Eczema, Fatigue, Fever, Hematemesis, Hematochezia, Hemolytic anemia, Immunodeficiency, Inflammation of the large intestine, Lymphopenia, Microcytic anemia, Petechiae, Prolonged bleeding time, Recurrent infections, Recurrent respiratory infections, Reduced natural killer cell activity, Sinusitis, Specific learning disability, Spontaneous hematomas, Thrombocytopenia
U1	ING1	0.460817943	3.66E-14	Transcription regulatory protein	BrainSpLMD|3621	OMIM|601566;HPO|3621|Autosomal recessive inheritance, Squamous cell carcinoma
U1	FAM127A	0.272850872	3.99E-14			
U1	GOLT1B	1.020622455	4.19E-14	Unclassified	BrainSpLMD|51026;Eurexp|euxassay_004588|orbito-sphenoid	OMIM|615078
U1	EEF1A1P13	0.467307241	4.71E-14			
U1	TRAM2	1.648030169	5.06E-14	Membrane transport protein	BrainSpLMD|9697;Eurexp|euxassay_004974|axial skeleton, hyoid bone, naris, olfactory, petrous part, rib, sternum, turbinate bones	OMIM|608485
U1	RPL5P1	1.616644387	5.12E-14			
U1	SSR1	0.759851457	5.80E-14	Membrane transport protein	BrainSpLMD|6745;Eurexp|euxassay_011321|basioccipital bone, basisphenoid bone, cartilaginous ring, clavicle, cricoid, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, metacarpus, molar, naris, orbito-sphenoid, otic capsule, pancreas, paraxial mesenchyme, pelvic girdle, petrous part, radius, scapula, submandibular gland primordium, thyroid, tibia, turbinate bones, ulna, vault of skull	OMIM|600868
U1	GNL3	0.556804732	6.44E-14	Cell cycle control protein	BrainSpLMD|26354;Eurexp|euxassay_006219|cortex, incisor, left, left lung, mandible, marginal layer, maxilla, midgut, molar, neural retina, orbito-sphenoid, palatal shelf, right, right lung, submandibular gland primordium, testis, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|608011
U1	RPS2P5	0.361560536	6.47E-14			
U1	PDIA3P1	0.522552453	6.99E-14			
U1	TMED10	0.898764907	7.28E-14	Integral membrane protein	BrainSpLMD|10972	OMIM|605406
U1	RAB1A	0.53901502	7.68E-14	GTPase	BrainSpLMD|5861	OMIM|179508
U1	MAGED1	0.754420727	7.90E-14	Cell cycle control protein	BrainSpLMD|9500;Eurexp|euxassay_012384|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system;BrainSpMouseDev|60907	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300224
U1	RPS2	0.273235007	7.92E-14	Ribosomal subunit	BrainSpLMD|6187;Eurexp|euxassay_005928|embryo	OMIM|603624
U1	PLAG1	1.828701586	8.19E-14	Transcription factor	BrainSpLMD|5324	OMIM|603026;COSMIC||salivary adenoma, lipoblastoma;HPO|5324|Autosomal dominant inheritance, Salivary gland neoplasm, Somatic mutation
U1	MCC	1.318746014	8.25E-14	Unclassified;Cell cycle control protein	BrainSpLMD|4163;Eurexp|euxassay_016045|mantle layer, pineal primordium, stomach, submandibular gland primordium, ventricular layer	SFARI||Autism, No category;OMIM|159350
U1	NR4A1	1.512634648	8.27E-14	Nuclear receptor	BrainSpLMD|3164;Eurexp|euxassay_007083|adrenal gland, clavicle, mandible, peripheral nervous system, submandibular gland primordium, testis, vibrissa;BrainSpMouseDev|15145	OMIM|139139
U1	RGS3	2.052384211	8.83E-14	GTPase activating protein	BrainSpLMD|5998	OMIM|602189
U1	TOR1AIP1	1.245968564	8.83E-14	Unclassified	BrainSpLMD|26092	OMIM|614512;HPO|26092|Ankle contracture, Autosomal recessive inheritance, Increased endomysial connective tissue, Slow progression, Spinal rigidity
U1	SGK1	1.36144104	8.90E-14	Serine/threonine kinase	BrainSpLMD|6446;Eurexp|euxassay_010543|adrenal gland, choroid invagination, choroid plexus, left lung, lip, medullary stroma, mesenchyme, right lung, roof plate, vibrissa;BrainSpMouseDev|20156	OMIM|602958;COSMIC||Nodular lymphocyte predominant Hodgkin lymphoma
U1	RP11.742N3.1	0.620399228	9.11E-14			
U1	DOCK10	0.73955641	9.13E-14	Unclassified	BrainSpLMD|55619;Eurexp|euxassay_011695|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thymus primordium, thyroid, trigeminal V, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|611518
U1	PDLIM2	1.217833316	1.00E-13	Adapter molecule	BrainSpLMD|64236	OMIM|609722
U1	CMTM6	1.239078455	1.03E-13	Integral membrane protein	BrainSpLMD|54918	OMIM|607889
U1	ENPP2	2.335899356	1.04E-13	Enzyme: Phosphodiesterase	BrainSpLMD|5168;Eurexp|euxassay_002856|4th ventricle, bladder, calyces, cartilaginous ring, choroid plexus, clavicle, ductus deferens, incisor, laryngeal, larynx, lateral recess, mesenchyme, molar, muscle, oral epithelium, penis, phalanx, skeletal muscle, trachea, ventral grey horn, ventricular layer, vibrissa	OMIM|601060
U1	SEMA3C	1.139191719	1.06E-13	Ligand	BrainSpLMD|10512;BrainSpMouseDev|20111	OMIM|602645;HPO|10512|Abdominal pain, Aganglionic megacolon, Constipation, Intestinal obstruction, Nausea and vomiting, Weight loss
U1	RAB31	1.341323277	1.06E-13	GTPase	BrainSpLMD|11031;Eurexp|euxassay_003248|axial muscle, basal plate, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, submandibular gland primordium, thoracic, trigeminal V, vagus X, vibrissa	OMIM|605694
U1	CHID1	0.880947789	1.13E-13	Transport/cargo protein	BrainSpLMD|66005	OMIM|615692
U1	RPS7	0.292732052	1.18E-13	Ribosomal subunit		OMIM|603658;HPO|6201|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Cleft palate, Delayed puberty, Fatigue, Hypertelorism, Macrocytic anemia, Migraine, Neutropenia, Pallor, Short nose, Short stature, Thick upper lip vermilion, Wide nasal bridge
U1	SPTY2D1.AS1	1.9282433	1.25E-13			
U1	CHORDC1	1.216924894	1.31E-13	Unclassified	BrainSpLMD|26973;Eurexp|euxassay_005070|brain, olfactory, trigeminal V, vomeronasal organ	OMIM|604353
U1	ANAPC13	0.893465435	1.42E-13	Unclassified	BrainSpLMD|25847	OMIM|614484
U1	S100A16	1.30982368	1.46E-13	Calcium binding protein	BrainSpLMD|140576;Eurexp|euxassay_004932|bladder, epidermis, hindgut, lung, medulla, metanephros, midgut, naris, oesophagus, olfactory, rectum, stomach, submandibular gland primordium, thymus primordium, urethra, ventricular layer, vibrissa	OMIM|617437
U1	WASF2	0.424474437	1.53E-13	Cytoskeletal associated protein	BrainSpLMD|10163	OMIM|605875
U1	NYNRIN	0.98003512	1.60E-13	Unclassified	BrainSpLMD|57523	
U1	YAP1	1.243022179	1.62E-13	Transcription regulatory protein	BrainSpLMD|10413	OMIM|606608;HPO|10413|Autosomal dominant inheritance, Bilateral cleft lip and palate, Chorioretinal coloboma, Hematuria, Intellectual disability, Iris coloboma, Microphthalmia, Sensorineural hearing impairment
U1	DAD1	0.436284401	1.85E-13	Adapter molecule	BrainSpLMD|1603;Eurexp|euxassay_012117|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|600243
U1	ARCN1	1.35076777	1.96E-13	Transport/cargo protein	BrainSpLMD|372	OMIM|600820;HPO|372|2-3 toe syndactyly, Accelerated skeletal maturation, Astigmatism, Autosomal dominant inheritance, Cleft palate, Coxa valga, Failure to thrive, Gait ataxia, High palate, Hypospadias, Hypotelorism, Intellectual disability, Intrauterine growth retardation, Metaphyseal widening, Microcephaly, Micrognathia, Micropenis, Motor delay, Myopia, Obstructive sleep apnea, Retrognathia, Rhizomelia, Scaphocephaly, Scrotal hypoplasia, Seizures, Ventricular septal defect
U1	DSTN	0.648180549	1.99E-13	Cytoskeletal associated protein	BrainSpLMD|11034;Eurexp|euxassay_001919|atrium, bladder, brain, cervico-thoracic, dorsal root ganglion, epidermis, epithelium, glossopharyngeal IX, hindgut, midgut, neural retina, oesophagus, olfactory, oral epithelium, pharyngo-tympanic tube, respiratory, spinal cord, stomach, stroma, submandibular gland primordium, thoracic, thymus primordium, thyroid, trachea, trigeminal V, vagus X, ventricle, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, wall	OMIM|609114
U1	TPM4	0.510218728	2.00E-13	Cytoskeletal protein		OMIM|600317;COSMIC||ALCL
U1	2-Sep	0.896942394	2.02E-13			
U1	RPL5	0.378715317	2.08E-13	Ribosomal subunit	BrainSpLMD|6125	OMIM|603634;COSMIC||T-ALL, Diamond-Blackfan anaemia;HPO|6125|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Bifid uvula, Cleft palate, Cleft upper lip, Delayed puberty, Failure to thrive, Fatigue, Growth delay, Hypertelorism, Increased mean corpuscular volume, Macrocytic anemia, Micrognathia, Migraine, Mitral regurgitation, Mitral valve prolapse, Pallor, Patent ductus arteriosus, Persistence of hemoglobin F, Short thumb, Tetralogy of Fallot, Tracheomalacia, Ventricular hypertrophy, Ventricular septal defect
U1	CNTN1	1.7558049	2.20E-13	Adhesion molecule	BrainSpLMD|1272;Eurexp|euxassay_006852|4th ventricle, calyces, choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, marginal layer, maxilla, neural retina, olfactory, pelvis, pituitary, trigeminal V, ureter, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|12588	OMIM|600016;HPO|1272|Akinesia, Arachnodactyly, Areflexia, Autosomal recessive inheritance, Camptodactyly, Death in infancy, Fetal akinesia sequence, High, narrow palate, Hypertelorism, Joint contracture of the hand, Neonatal hypotonia, Oval face, Overlapping fingers, Polyhydramnios, Poor suck, Respiratory insufficiency due to muscle weakness, Scaphocephaly, Small for gestational age
U1	IFI6	0.875076482	2.49E-13	Unclassified	BrainSpLMD|2537	OMIM|147572
U1	DDX21	0.794954369	2.85E-13	ATPase	BrainSpLMD|9188;Eurexp|euxassay_005701|embryo	OMIM|606357
U1	TMBIM6	0.417098311	2.88E-13	Integral membrane protein	BrainSpLMD|7009	OMIM|600748
U1	SLC30A7	1.123239689	2.89E-13	Membrane transport protein	BrainSpLMD|148867	OMIM|611149
U1	FAT1	0.993344158	2.94E-13	Adhesion molecule	BrainSpLMD|2195;Eurexp|euxassay_013462|axial skeleton, lung, mandible, maxilla, mesenchyme, rest of mesenchyme, sternum, submandibular gland primordium, vibrissa;BrainSpMouseDev|13884	SFARI||Autism, No category;OMIM|600976;COSMIC||oral squamous cell, chemorefractory CLL, head and neck, pancreatic acinar cell carcinoma, pancreatic
U1	HAPLN1	2.040615161	3.41E-13	Extracellular matrix protein	BrainSpLMD|1404	OMIM|115435
U1	PTGR1	1.691871557	3.45E-13	Enzyme: Dehydrogenase	BrainSpLMD|22949	OMIM|601274
U1	RPL7A	0.358707404	3.51E-13	Ribosomal subunit	Eurexp|euxassay_005917|embryo	OMIM|185640
U1	CRISPLD1	0.998977042	3.54E-13	Secreted polypeptide	BrainSpLMD|83690;Eurexp|euxassay_010145|axial skeleton, basioccipital bone, basisphenoid bone, cartilaginous ring, clavicle, femur, fibula, humerus, mandible, maxilla, meninges, nasal cavity, orbito-sphenoid, petrous part, phalanx, rib, sternum, tarsus, thyroid, tibia, vault of skull	
U1	TJP1	0.41471962	3.60E-13	Cell junction protein	BrainSpLMD|7082;Eurexp|euxassay_018809|brain, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, left lung, meninges, metanephros, right lung, spinal cord, trigeminal V	OMIM|601009
U1	ARHGAP20	1.642057276	3.71E-13	GTPase activating protein	BrainSpLMD|57569;Eurexp|euxassay_010398|mesenchyme	OMIM|609568
U1	MYLK	1.361349583	3.94E-13	Serine/threonine kinase	BrainSpLMD|4638;BrainSpMouseDev|71754	OMIM|600922;HPO|4638|Abnormality of the iris, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Ascending aortic dissection, Autosomal dominant inheritance, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Exertional dyspnea, Hypertension, Left ventricular failure, Paroxysmal dyspnea
U1	NOTCH2	0.536903361	4.02E-13	Cell surface receptor	BrainSpLMD|4853;Eurexp|euxassay_015406|alimentary system, cardiovascular system, cavities and their linings, choroid plexus, gland, integumental system, limb, marginal layer, meninges, mesenchyme, olfactory, renal/urinary system, reproductive system, respiratory system, skeleton, tail, ventricular layer, vertebral axis muscle system, vomeronasal organ;BrainSpMouseDev|17896	OMIM|600275;COSMIC||marginal zone lymphoma, DLBCL, bladder, Hajdu-Cheney syndrome, serpentine fibula-polycystic kidney syndrome;HPO|4853|Abnormality of the cardiac septa, Abnormality of the fingernails, Absent frontal sinuses, Anteverted nares, Arnold-Chiari malformation, Arthralgia, Atrial septal defect, Autosomal dominant inheritance, Basilar impression, Biconcave vertebral bodies, Bone pain, Brachydactyly, Broad forehead, Cervical instability, Cholestasis, Cholestatic liver disease, Coarse facial features, Conductive hearing impairment, Crowded carpal bones, Cryptorchidism, Decreased skull ossification, Dental malocclusion, Dislocated radial head, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Elongated sella turcica, Epicanthus, Failure to thrive, Foot acroosteolysis, Full cheeks, Generalized hirsutism, Genu valgum, Hearing impairment, Hematuria, High palate, Hirsutism, Hydrocephalus, Hypertelorism, Hypertension, Hypoplastic 5th lumbar vertebrae, Hypospadias, Inguinal hernia, Joint hyperflexibility, Joint laxity, Kyphoscoliosis, Large earlobe, Long eyelashes, Long nose, Long philtrum, Low-set ears, Macrocephaly, Micrognathia, Narrow mouth, Open bite, Osteolysis, Osteolytic defects of the phalanges of the hand, Osteopenia, Osteoporosis, Partial absence of toe, Patent ductus arteriosus, Pathologic fracture, Periodontitis, Peripheral pulmonary artery stenosis, Phenotypic variability, Platybasia, Pointed chin, Posterior embryotoxon, Premature loss of teeth, Prominent occiput, Proteinuria, Pulmonic stenosis, Recurrent fractures, Renal cyst, Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Scoliosis, Short distal phalanx of finger, Short nail, Short neck, Short stature, Short toe, Skeletal dysplasia, Synophrys, Tall lumbar vertebral bodies, Telecanthus, Tetralogy of Fallot, Thick eyebrow, Thin vermilion border, Triangular face, Umbilical hernia, Vertebral compression fractures, Wide nose, Wormian bones
U1	MT.ND5	0.469953286	4.09E-13			
U1	SDCBP	0.473862262	4.51E-13	Adapter molecule	BrainSpLMD|6386;Eurexp|euxassay_008333|naris, olfactory, respiratory	OMIM|602217
U1	CAMK2D	0.89323382	4.66E-13	Serine/threonine kinase	BrainSpLMD|817;Eurexp|euxassay_010500|facial VII, glossopharyngeal IX, mantle layer, mesenchyme, olfactory, trigeminal V, vagus X, ventricle, ventricular layer	OMIM|607708
U1	TANC1	1.357059544	4.76E-13	Unclassified	Eurexp|euxassay_012462|mandible, maxilla, metanephros, ventricular layer	OMIM|611397
U1	CTC.444N24.11	0.857069132	4.77E-13			
U1	PGM3	1.106524337	4.85E-13	Enzyme: Mutase	BrainSpLMD|5238	OMIM|172100;HPO|5238|Allergic rhinitis, Asthma, Ataxia, Autosomal recessive inheritance, Bronchiectasis, Cognitive impairment, Conductive hearing impairment, Cortical myoclonus, Dysarthria, Eczema, Generalized hypotonia, Global developmental delay, High palate, Immunodeficiency, Intellectual disability, Lymphopenia, Neutropenia, Recurrent respiratory infections, Scoliosis, Sensorineural hearing impairment, Sensory impairment, Vasculitis in the skin
U1	TMTC3	0.774379853	4.87E-13	Unclassified	BrainSpLMD|160418	OMIM|617218;HPO|160418|Autosomal recessive inheritance, Global developmental delay, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Infantile onset, Intellectual disability, Muscular hypotonia of the trunk, Optic atrophy, Polymicrogyria, Seizures, Ventriculomegaly
U1	AP3B1	1.298482439	4.96E-13	Adapter molecule	BrainSpLMD|8546	OMIM|603401;HPO|8546|Aberrant melanosome maturation, Acetabular dysplasia, Albinism, Autosomal recessive inheritance, Carious teeth, Coarse facial features, Congenital onset, Fair hair, Hepatomegaly, Hip dysplasia, Intellectual disability, mild, Long philtrum, Low-set ears, Microcephaly, Motor delay, Neutropenia, Nystagmus, Ocular albinism, Periodontitis, Photophobia, Posteriorly rotated ears, Pulmonary fibrosis, Recurrent bacterial infections, Reduced visual acuity, Smooth philtrum, Splenomegaly, Strabismus, Thin upper lip vermilion, Thrombocytopenia, Upslanted palpebral fissure, Visual impairment, Wide nasal bridge
U1	PPP1R15B	0.576186289	5.49E-13	Regulatory/other subunit	BrainSpLMD|84919	OMIM|613257;HPO|84919|Abnormal vertebral morphology, Autosomal recessive inheritance, Brisk reflexes, Delayed puberty, Dysarthria, Fine hair, Gait ataxia, Hearing impairment, High pitched voice, Intellectual disability, severe, Intrauterine growth retardation, Kinetic tremor, Kyphoscoliosis, Microcephaly, Oligodontia, Pectus excavatum, Phenotypic variability, Recurrent hypoglycemia, Seizures, Short stature, Small for gestational age, Sparse hair, Spasticity
U1	NOP58	0.785417626	5.63E-13	RNA binding protein	BrainSpLMD|51602	OMIM|616742
U1	TRIP6	1.516137412	6.06E-13	Transcription regulatory protein	BrainSpLMD|7205	OMIM|602933
U1	APOBEC3C	1.541458204	6.25E-13	Enzyme: Deaminase	BrainSpLMD|27350	OMIM|607750
U1	SIPA1L1	1.26247473	6.30E-13	GTPase activating protein	BrainSpLMD|26037	OMIM|617504
U1	COL9A3	1.221115415	6.66E-13	Extracellular matrix protein	BrainSpLMD|1299;Eurexp|euxassay_002050|axial skeleton, basioccipital bone, basisphenoid bone, choroid plexus, exoccipital bone, lateral recess, leg, mesenchyme, orbito-sphenoid, pectoral girdle and thoracic body wall, rib, submandibular gland primordium, temporal bone, testis, trachea, turbinate;BrainSpMouseDev|12624	OMIM|120270;HPO|1299|Abnormality of epiphysis morphology, Abnormality of the hip joint, Amblyopia, Arthralgia, Astigmatism, Autosomal dominant inheritance, Cataract, Cleft palate, Delayed epiphyseal ossification, Epiphyseal dysplasia, Flat face, Gait disturbance, Genu valgum, Heterogeneous, Hip dysplasia, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Limitation of joint mobility, Malar flattening, Micrognathia, Micromelia, Mild short stature, Mildly elevated creatine phosphokinase, Myopia, Osteoarthritis, Platyspondyly, Proximal muscle weakness, Retinal detachment, Sensorineural hearing impairment, Short metacarpal, Short stature, Small epiphyses, Vitreoretinal degeneration
U1	STK3	1.742325901	6.77E-13	Serine/threonine kinase	BrainSpLMD|6788	OMIM|605030
U1	GEM	1.872728763	6.96E-13	G protein	BrainSpLMD|2669;Eurexp|euxassay_003192|adrenal gland, clavicle, dorsal grey horn, incisor, molar, oesophagus, testis, ventricular layer, vibrissa	OMIM|600164
U1	CAPZA1	0.429819606	7.05E-13	Structural protein	BrainSpLMD|829;Eurexp|euxassay_000273|head mesenchyme, lung	OMIM|601580
U1	PDGFD	1.314790874	7.29E-13	Growth factor	BrainSpLMD|80310;BrainSpMouseDev|47626	OMIM|609673
U1	FAM53C	0.977110995	7.68E-13	Unclassified	BrainSpLMD|51307	OMIM|609372
U1	C4orf3	1.062508712	8.06E-13	Integral membrane protein	BrainSpLMD|401152	
U1	PLAGL1	0.650828657	8.76E-13	Transcription regulatory protein	BrainSpLMD|5325;BrainSpMouseDev|22391	OMIM|603044;HPO|5325|Abnormality of earlobe, Abnormality of the pancreatic islet cells, Arthrogryposis multiplex congenita, Bilateral ptosis, Cardiomegaly, Contractures of the joints of the lower limbs, Cryptorchidism, Dehydration, Downturned corners of mouth, Failure to thrive, Generalized myoclonic seizures, Gingival overgrowth, Global developmental delay, Glycosuria, Hepatomegaly, High palate, Hyperglycemia, Hypoplastic fingernail, Hypovolemia, Intellectual disability, Intrauterine growth retardation, Ketonuria, Labial hypertrophy, Macroglossia, Micrognathia, Motor delay, Neonatal insulin-dependent diabetes mellitus, Neonatal respiratory distress, Oligohydramnios, Postnatal growth retardation, Precocious puberty, Prominent metopic ridge, Prominent nose, Prominent occiput, Retrognathia, Shallow orbits, Small anterior fontanelle, Transient neonatal diabetes mellitus, Umbilical hernia, Ventricular septal defect, Weight loss
U1	CRNDE	0.668923794	8.94E-13			OMIM|615624
U1	RPN2	0.775136615	9.45E-13	Enzyme: Glycosyltransferase	BrainSpLMD|6185;Eurexp|euxassay_018263|embryo	OMIM|180490
U1	NET1	1.750140836	9.70E-13	Guanine nucleotide exchange factor	BrainSpLMD|10276	OMIM|606450
U1	RP11.864N7.2	0.480128892	1.04E-12			
U1	MON2	0.598522307	1.06E-12	Unclassified	BrainSpLMD|23041	OMIM|616822
U1	ATG101	1.873860338	1.08E-12	Unclassified	BrainSpLMD|60673;Eurexp|euxassay_005722|adrenal gland	OMIM|615089
U1	ZNF106	0.830217145	1.08E-12	DNA binding protein	BrainSpLMD|64397;Eurexp|euxassay_010261|skeletal muscle, vertebral axis muscle system	
U1	PRICKLE1	0.896661519	1.17E-12	Nuclear receptor	BrainSpLMD|144165;Eurexp|euxassay_009520|basal columns, ductus deferens, epithelium, incisor, mantle layer, marginal layer, metatarsus, naris, otic capsule, penis, phalanx, pituitary, renal/urinary system, turbinate bones, urethra, valve	SFARI||Autism, 3 - Suggestive evidence;OMIM|608500;HPO|144165|Atonic seizures, Autosomal recessive inheritance, Babinski sign, Dysarthria, Dysmetria, EEG with polyspike wave complexes, Generalized myoclonic seizures, Intention tremor, Limb ataxia, Morning myoclonic jerks, Progressive, Sensory axonal neuropathy, Tremor
U1	ACOT9	1.51514942	1.27E-12	Enzyme: Esterase	BrainSpLMD|23597;Eurexp|euxassay_001726|dorsal root ganglion, trigeminal V, vagus X	OMIM|300862
U1	IFNGR1	0.277390061	1.33E-12	Cytokine receptor	BrainSpLMD|3459;Eurexp|euxassay_002874|Meckel's cartilage, chondrocranium, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, rectum, stomach, thymus primordium	SFARI||Autism, 5 - Hypothesized but untested;OMIM|107470;HPO|3459|Abnormality of abdomen morphology, Abnormality of blood and blood-forming tissues, Autosomal dominant inheritance, Autosomal recessive inheritance, Generalized lymphadenopathy, Immunodeficiency, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteomyelitis
U1	ADAMTSL3	1.207955968	1.35E-12	Metallo protease	BrainSpLMD|57188	OMIM|609199
U1	SNX24	1.023976476	1.41E-12	Transport/cargo protein	BrainSpLMD|28966	
U1	ZIC5	1.490581987	1.44E-12	DNA binding protein	BrainSpLMD|85416;BrainSpMouseDev|41618	
U1	CRYBG3	2.065915109	1.56E-12	Unclassified		
U1	SMAD7	1.4184478	1.63E-12	Transcription regulatory protein	BrainSpLMD|4092;BrainSpMouseDev|16901	OMIM|602932
U1	LY6E	0.278342512	1.66E-12	Unclassified	BrainSpLMD|4061;Eurexp|euxassay_010719|adrenal gland, liver, marginal layer, olfactory, thymus primordium, vertebral axis muscle system	OMIM|601384
U1	SNAP23	0.995184881	1.75E-12	Transport/cargo protein	BrainSpLMD|8773;Eurexp|euxassay_005991|embryo	OMIM|602534
U1	GTF2B	1.212030147	1.92E-12	Transcription factor	BrainSpLMD|2959;Eurexp|euxassay_008180|testis	OMIM|189963
U1	MAGT1	1.792895302	1.96E-12	Unclassified	BrainSpLMD|84061	OMIM|300715;HPO|84061|Decreased T cell activation, Decreased number of CD4+ T cells, Immunodeficiency, Lymphoma, Recurrent viral infections, X-linked inheritance
U1	SMTN	1.13582386	1.97E-12	Cytoskeletal associated protein	BrainSpLMD|6525;Eurexp|euxassay_002787|alimentary system, hindgut, limb, midgut, oesophagus, rectum, stomach, vertebral axis muscle system, wall	OMIM|602127
U1	RPS3AP6	0.403990203	2.17E-12			
U1	BTBD19	1.366833841	2.20E-12			
U1	TOB2	0.545944006	2.30E-12	Cell cycle control protein	BrainSpLMD|10766;Eurexp|euxassay_002023|Meckel's cartilage, orbito-sphenoid	OMIM|607396
U1	LINC00657	0.452217261	2.43E-12			
U1	GSTM5	1.596997152	2.43E-12	Enzyme: Glutathione transferase	BrainSpLMD|2949;Eurexp|euxassay_018918|foregut-midgut junction, liver, lobe, midgut, nucleus pulposus, olfactory, pancreas, renal/urinary system, stomach, testis, thymus primordium, ventral grey horn, ventricular layer	OMIM|138385
U1	UFM1	0.57968176	2.72E-12	Unclassified	BrainSpLMD|51569	OMIM|610553
U1	LEPROT	0.673561806	2.92E-12	Integral membrane protein		OMIM|613461
U1	NEXN	1.257951653	3.42E-12	Cytoskeletal associated protein	BrainSpLMD|91624;Eurexp|euxassay_002009|diaphragm, head mesenchyme, tongue, ventricle, vertebral axis muscle system	OMIM|613121;HPO|91624|Autosomal dominant inheritance, Cardiomyopathy, Dilated cardiomyopathy, Left ventricular hypertrophy
U1	COL4A5	1.106650463	3.74E-12	Extracellular matrix protein	BrainSpLMD|1287;Eurexp|euxassay_015894|bladder, ductus deferens, floorplate, lens, lung, meninges, stomach, sublingual gland primordium, submandibular gland primordium, thyroid, umbilical artery, umbilical vein, urethra, ventricular layer;BrainSpMouseDev|12613	OMIM|303630;HPO|1287|Anterior lenticonus, Congenital cataract, Corneal erosion, Diffuse glomerular basement membrane lamellation, Diffuse leiomyomatosis, Heterogeneous, Hypertension, Hypoparathyroidism, Ichthyosis, Microscopic hematuria, Myopia, Nephritis, Nephrotic syndrome, Progressive, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidney disease, Thickening of the glomerular basement membrane, Thrombocytopenia, X-linked dominant inheritance
U1	CTD.2192J16.15	0.340367066	3.93E-12			
U1	SASH1	1.343675194	4.01E-12	Adapter molecule	BrainSpLMD|23328	OMIM|607955
U1	CMBL	1.081234092	4.40E-12	Unclassified	BrainSpLMD|134147;Eurexp|euxassay_007377|medulla, meninges	OMIM|613379
U1	TEAD1	0.539015693	4.50E-12	Transcription factor	BrainSpLMD|7003;BrainSpMouseDev|21437	OMIM|189967;HPO|7003|Astigmatism, Autosomal dominant inheritance, Myopia, Peripapillary chorioretinal atrophy, Slow progression
U1	COL9A2	0.714419932	5.07E-12	Extracellular matrix protein	BrainSpLMD|1298;Eurexp|euxassay_000512|axial skeleton, cervical region, cranium, lumbar region, mesenchyme, otic capsule, pectoral girdle and thoracic body wall, rib, sacral region, thoracic region, turbinate bones	OMIM|120260;HPO|1298|Abnormality of epiphysis morphology, Amblyopia, Arthralgia, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Childhood onset, Cleft palate, Epiphyseal dysplasia, Flat face, Flattened epiphysis, Gait disturbance, Genu valgum, Genu varum, Heterogeneous, Hip dysplasia, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Knee osteoarthritis, Limitation of joint mobility, Malar flattening, Micrognathia, Micromelia, Mild short stature, Myopia, Osteoarthritis, Platyspondyly, Retinal detachment, Sensorineural hearing impairment, Severe Myopia, Short palm, Short stature, Small epiphyses, Vitreoretinal degeneration, Waddling gait
U1	CUL7	1.973628209	5.31E-12	Ubiquitin proteasome system protein	BrainSpLMD|9820;Eurexp|euxassay_014294|Meckel's cartilage, axial skeleton, clavicle, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate	SFARI||Autism, 3 - Suggestive evidence;OMIM|609577;HPO|9820|Abnormality of dental enamel, Abnormality of the elbow, Abnormality of the metaphysis, Anteverted nares, Autosomal recessive inheritance, Broad forehead, Bulbous nose, Clinodactyly of the 5th finger, Decreased testicular size, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Dolichocephaly, Enlarged thorax, Everted lower lip vermilion, Frontal bossing, Hip dislocation, Horizontal ribs, Hyperlordosis, Hypoplasia of the ulna, Hypoplastic ischia, Hypoplastic pelvis, Hypoplastic pubic bone, Hypospadias, Increased vertebral height, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Long philtrum, Malar flattening, Mandibular prognathia, Micromelia, Midface retrusion, Neonatal respiratory distress, Pectus excavatum, Pes planus, Pointed chin, Postnatal growth retardation, Protruding ear, Rocker bottom foot, Scapular winging, Short 5th finger, Short neck, Short ribs, Short stature, Short thorax, Slender long bone, Small for gestational age, Spina bifida occulta, Thick eyebrow, Thick lower lip vermilion, Thin ribs, Triangular face
U1	GPX7	1.308698329	5.41E-12	Enzyme: Peroxidase	BrainSpLMD|2882;Eurexp|euxassay_018909|alimentary system, alveolar sulcus, anterior, arachnoid mater, associated mesenchyme, axial skeleton, central nervous system, cerebral cortex, cervical region, choroid invagination, choroid plexus, clavicle, dermal component, dermis, duodenum, dura mater, embryo, epidermal component, epidermis, epithelium, external, foregut, foregut-midgut junction, fundus, gut, hindgut, intervertebral disc, intrinsic, lip, lower jaw, lumbar region, mandible, masseter, meninges, mesenchyme, midgut, naris, nasal cavity, nose, nucleus pulposus, olfactory, palatal shelf, pectoral girdle and thoracic body wall, physiological umbilical hernia, pia mater, pineal primordium, respiratory, rest of midgut, rest of skin, rib, rostral part, scapula, skeleton, stomach, temporal bone, thoracic region, transverse component, turbinate bones, upper jaw, vertebral axis muscle system, vertebral cartilage condensation, vertical component, vibrissa, visceral organ	OMIM|615784
U1	NBPF14	0.796986524	5.48E-12	Unclassified		OMIM|614003
U1	UFL1	0.533645843	6.11E-12	Unclassified	BrainSpLMD|23376	OMIM|613372
U1	LATS2	1.671797698	6.18E-12	Serine/threonine kinase	BrainSpLMD|26524	OMIM|604861
U1	MORF4L2	0.839783253	6.20E-12	Transcription regulatory protein	BrainSpLMD|9643;Eurexp|euxassay_007035|embryo	OMIM|300409
U1	ARMCX3	0.692239831	6.26E-12	Unclassified	BrainSpLMD|51566;Eurexp|euxassay_007266|mandible, mantle layer, maxilla, tongue, ventral grey horn	OMIM|300364
U1	SNHG3	1.231847681	6.52E-12			OMIM|603238
U1	CHP1	0.485771724	6.64E-12		BrainSpLMD|11261	OMIM|606988
U1	SEC61B	0.576943771	6.65E-12	Membrane transport protein		OMIM|609214
U1	ARSG	1.512331759	6.68E-12	Enzyme: Sulphatase	BrainSpLMD|22901;Eurexp|euxassay_007487|4th ventricle, choroid fissure, choroid plexus, ventricular layer	OMIM|610008
U1	TPST1	1.771142507	6.81E-12	Enzyme: Sulphotransferase	BrainSpLMD|8460	OMIM|603125
U1	SERTAD4	0.745274525	7.10E-12	Unclassified	BrainSpLMD|56256	
U1	TMF1	0.868413429	7.19E-12	Transcription factor	BrainSpLMD|7110;Eurexp|euxassay_016101|mandible, maxilla	OMIM|601126
U1	ELL2	1.290940237	7.55E-12	Transcription factor	BrainSpLMD|22936	OMIM|601874
U1	LRIG3	0.841356015	7.84E-12	Unclassified	BrainSpLMD|121227	OMIM|608870;COSMIC||NSCLC
U1	USO1	1.085746565	9.09E-12	Transport/cargo protein	BrainSpLMD|8615	OMIM|603344
U1	CTDSP1	1.798242587	9.21E-12	Enzyme: Phosphatase	BrainSpLMD|58190	OMIM|605323
U1	ITGB1P1	1.119746713	9.30E-12			
U1	FHL2	2.096460098	9.31E-12	Adapter molecule	BrainSpLMD|2274	OMIM|602633;HPO|2274|Dilated cardiomyopathy
U1	SSR2	0.426181832	1.01E-11	Transport/cargo protein	BrainSpLMD|6746;Eurexp|euxassay_002335|cranium, orbito-sphenoid	OMIM|600867
U1	PEG3	0.927656976	1.01E-11	Transcription factor	BrainSpLMD|5178	OMIM|601483
U1	IFRD1	0.947460951	1.07E-11	Regulatory/other subunit	BrainSpLMD|3475;Eurexp|euxassay_003205|axial muscle, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, molar, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|603502
U1	SERP1	0.60655732	1.12E-11	Integral membrane protein	BrainSpLMD|27230;Eurexp|euxassay_002193|Meckel's cartilage, incisor, molar, orbito-sphenoid	OMIM|617674
U1	PRRC1	0.920658096	1.20E-11	Unclassified	BrainSpLMD|133619;Eurexp|euxassay_000739|Meckel's cartilage, chondrocranium, olfactory	
U1	ERBB2	2.233240231	1.20E-11	Receptor tyrosine kinase	BrainSpLMD|2064;Eurexp|euxassay_006184|anterior, bladder, diaphragm, epidermis, epithelium, external, eyelid, frenulum, incisor, larynx, midgut, molar, naso-lacrimal duct, olfactory, oral epithelium, paraxial mesenchyme, pharyngo-tympanic tube, posterior, rectum, rest of mesenchyme, skeletal muscle, stomach, submandibular gland primordium, urethra, ventricle, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|13644	OMIM|164870;COSMIC||breast, ovarian, other tumour types, NSCLC, gastric;HPO|2064|Alveolar cell carcinoma, Autosomal dominant inheritance, Autosomal recessive inheritance, Ependymoma, Glioblastoma, Glioblastoma multiforme, Somatic mutation, Stomach cancer
U1	HSPD1	0.290869048	1.23E-11	Heat shock protein	BrainSpLMD|3329;BrainSpMouseDev|15285	OMIM|118190;HPO|3329|Apnea, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Choreoathetosis, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hyperreflexia, Impaired vibration sensation in the lower limbs, Intellectual disability, profound, Leukodystrophy, Lower limb muscle weakness, Lower limb spasticity, Neonatal onset, Nystagmus, Postnatal microcephaly, Progressive, Progressive spasticity, Seizures, Spastic gait, Spastic paraplegia, Strabismus, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
U1	PRPS2	0.976810718	1.35E-11	Enzyme: Ligase	BrainSpLMD|5634	OMIM|311860
U1	ANGPTL2	1.68592137	1.37E-11	Secreted polypeptide	BrainSpLMD|23452;Eurexp|euxassay_007716|aorta, axial skeleton, basioccipital bone, clavicle, diaphragm, footplate, handplate, mandible, maxilla, meninges, mesenchyme, orbito-sphenoid, pelvic girdle, pericardium, rib, sternum, valve, vault of skull;BrainSpMouseDev|26108	OMIM|605001
U1	PLEC	1.40514007	1.40E-11	Anchor protein	BrainSpLMD|5339	OMIM|601282;HPO|5339|Abnormal blistering of the skin, Abnormality of dental enamel, Abnormality of the genitourinary system, Abnormality of the stomach, Alopecia, Anemia, Anonychia, Aphasia, Aplasia cutis congenita, Aplasia of the bladder, Arthrogryposis multiplex congenita, Atrophic scars, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary pterygia, Bruising susceptibility, Carious teeth, Congenital onset, Congenital pyloric atresia, Death in infancy, Deeply set eye, Dehydration, Dermal atrophy, Difficulty climbing stairs, Dysphagia, Dysphasia, Echolalia, Ectropion, Elevated maternal serum alpha-fetoprotein, Elevated serum creatine phosphokinase, Esophageal atresia, Failure to thrive, Flexion contracture, Fragile skin, Generalized muscle weakness, Glomerulosclerosis, Gowers sign, Hydronephrosis, Hyperconvex fingernails, Hypoplasia of dental enamel, Hypoplastic fingernail, Increased connective tissue, Intractable diarrhea, Junctional split, Keratitis, Limitation of joint mobility, Lumbar hyperlordosis, Microtia, Milia, Motor delay, Muscle flaccidity, Muscular dystrophy, Mutism, Myopathy, Nail dysplasia, Nail dystrophy, Neonatal respiratory distress, Oculomotor nerve palsy, Onychogryposis of toenails, Ophthalmoplegia, Oral mucosal blisters, Palmoplantar hyperkeratosis, Papule, Plantar hyperkeratosis, Polyhydramnios, Premature birth, Ptosis, Punctate keratitis, Rapidly progressive, Renal dysplasia, Scarring alopecia of scalp, Sepsis, Short stature, Skeletal muscle atrophy, Skin erosion, Skin fragility with non-scarring blistering, Skin vesicle, Thick nail, Underdeveloped nasal alae, Ureterocele, Urethral stricture
U1	PRKAR1A	0.492345122	1.41E-11	Serine/threonine kinase	BrainSpLMD|5573;Eurexp|euxassay_001469|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V	OMIM|188830;COSMIC||papillary thyroid, myxoma, endocrine, papillary thyroid;HPO|5573|Abnormal form of the vertebral bodies, Abnormal prolactin level, Abnormality of circulating adrenocorticotropin level, Abnormality of female external genitalia, Abnormality of immune system physiology, Abnormality of the eye, Abnormality of the nail, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Adrenal hyperplasia, Agitation, Anteverted nares, Anxiety, Autism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bacterial endocarditis, Blue irides, Blue nevus, Brachycephaly, Brachydactyly, Broad nasal tip, Broad palm, Bruising susceptibility, Calvarial hyperostosis, Cardiac myxoma, Cerebral venous thrombosis, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Congenital craniofacial dysostosis, Congenital hypothyroidism, Congestive heart failure, Cryptorchidism, Decreased circulating ACTH level, Delayed eruption of teeth, Delayed speech and language development, Dental malocclusion, Depressed nasal bridge, Depressed nasal ridge, Depressivity, Diabetes mellitus, Dislocated radial head, Disproportionate short-limb short stature, Easy fatigability, Elevated calcitonin, Elevated circulating parathyroid hormone level, Enlarged polycystic ovaries, Epicanthus, Epiphyseal stippling, Exertional dyspnea, Fatigue, Freckling, Global developmental delay, Growth hormone deficiency, Growth hormone excess, Hearing impairment, Heart murmur, Heterogeneous, Hirsutism, Hydrocephalus, Hyperactivity, Hyperphosphatemia, Hypertelorism, Hypertension, Hypocalcemia, Hypodontia, Hypogonadism, Hypoplasia of the maxilla, Hypoplasia of the nasal bone, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic vertebral bodies, Hypospadias, Increased circulating cortisol level, Increased intracranial pressure, Increased susceptibility to fractures, Increased urinary cortisol level, Intellectual disability, Intrauterine growth retardation, Kyphosis, Long hallux, Malar flattening, Mandibular prognathia, Melanocytic nevus, Menstrual irregularities, Mental deterioration, Micromelia, Midface retrusion, Mild postnatal growth retardation, Mild short stature, Mood changes, Multiple lentigines, Muscle weakness, Myxoid subcutaneous tumors, Narrow vertebral interpedicular distance, Neonatal epiphyseal stippling, Nevus, Non-medullary thyroid carcinoma, Obesity, Onset, Open mouth, Optic atrophy, Osteopenia, Osteoporosis, Papillary thyroid carcinoma, Paradoxical increased cortisol secretion on dexamethasone suppression test, Peripheral Schwannoma, Peripheral neuropathy, Pheochromocytoma, Pigmented micronodular adrenocortical disease, Pituitary adenoma, Pituitary growth hormone cell adenoma, Primary hypercorticolism, Profuse pigmented skin lesions, Pseudohypoparathyroidism, Psychosis, Pulmonic valve myxoma, Red hair, Round face, Schwannoma, Scoliosis, Short metacarpal, Short metatarsal, Short nose, Short palm, Short phalanx of finger, Short stature, Short toe, Skeletal muscle atrophy, Slender build, Specific learning disability, Spinal canal stenosis, Strabismus, Striae distensae, Thin skin, Thyroid adenoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Truncal obesity, Vestibular Schwannoma, Wide nasal bridge
U1	RAB5A	0.66113288	1.41E-11	GTPase	BrainSpLMD|5868	OMIM|179512
U1	SEC24A	1.565262562	1.42E-11	Transport/cargo protein	BrainSpLMD|10802	OMIM|607183
U1	PRDM5	2.147622479	1.44E-11	Transcription factor	BrainSpLMD|11107;BrainSpMouseDev|46620	OMIM|614161;HPO|11107|Abnormality of hair pigmentation, Autosomal recessive inheritance, Blue sclerae, Bruising susceptibility, Conductive hearing impairment, Corneal dystrophy, Corneal scarring, Gait disturbance, Hearing impairment, Hyperextensible skin, Joint hyperflexibility, Keratoconus, Keratoglobus, Myalgia, Myopia, Osteoporosis, Sensorineural hearing impairment, Severe Myopia, Soft skin, Visual loss
U1	RAMP2	0.661516723	1.49E-11	Transport/cargo protein	BrainSpLMD|10266;Eurexp|euxassay_006585|aorta, atrium, axial muscle, bladder, hindgut, lung, meninges, metanephros, midgut, skeletal muscle, stomach, ventricle	OMIM|605154
U1	SLC30A4	1.185339084	1.56E-11	Transport/cargo protein	BrainSpLMD|7782;Eurexp|euxassay_019696|mantle layer	OMIM|602095
U1	FLRT3	1.286106315	1.65E-11	Adhesion molecule	BrainSpLMD|23767;Eurexp|euxassay_006295|axial skeleton, bladder, eyelid, incisor, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, molar, pharyngo-tympanic tube, physiological umbilical hernia, pituitary, submandibular gland primordium, ventricular layer, vibrissa	OMIM|604808;HPO|23767|Abnormality of the voice, Anosmia, Anterior hypopituitarism, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Delayed puberty, Erectile abnormalities, Gynecomastia, Hypogonadotrophic hypogonadism, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Primary amenorrhea, Reduced bone mineral density, Sparse axillary hair, Sparse pubic hair
U1	GNAI3	0.722690343	1.67E-11	G protein	BrainSpLMD|2773	OMIM|139370;HPO|2773|Anterior open-bite malocclusion, Apnea, Autosomal dominant inheritance, Chewing difficulties, Cleft at the superior portion of the pinna, Cleft palate, Cupped ear, Dental crowding, Dental malocclusion, Hypoplastic superior helix, Low-set ears, Macrocephaly, Mandibular condyle aplasia, Mandibular condyle hypoplasia, Overfolding of the superior helices, Postauricular skin tag, Posteriorly rotated ears, Preauricular skin tag, Round face, Snoring, Speech articulation difficulties
U1	PPAP2B	1.044130723	1.70E-11			
U1	SNORD3A	0.536597011	1.88E-11			OMIM|180710
U1	NPM1P27	0.375970139	1.89E-11			
U1	GNB4	0.711229315	2.25E-11	G protein	BrainSpLMD|59345;Eurexp|euxassay_006820|aortic valve, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, mitral valve, neural retina, pulmonary valve, thoracic, tricuspid valve, trigeminal V, vagus X, valve, ventral grey horn;BrainSpMouseDev|14472	OMIM|610863;HPO|59345|Autosomal dominant inheritance, Axonal regeneration, Distal sensory impairment, Hammertoe, Hyporeflexia, Onion bulb formation, Pes cavus, Slow progression, Steppage gait
U1	MGAT1	1.133536954	2.28E-11	Enzyme: Glucosaminyltransferase	BrainSpLMD|4245	OMIM|160995
U1	TBC1D2B	1.513776085	2.92E-11	Transcription regulatory protein	BrainSpLMD|23102	
U1	RCBTB2	0.880617903	3.10E-11	Guanine nucleotide exchange factor	BrainSpLMD|1102	OMIM|603524
U1	DEGS1	0.909542838	3.22E-11	Enzyme: Oxidoreductase	BrainSpLMD|8560;Eurexp|euxassay_002879|dorsal root ganglion, pancreas, ventral grey horn	OMIM|615843
U1	UGCG	0.537801161	3.36E-11	Enzyme: Glycosyltransferase	BrainSpLMD|7357	OMIM|602874
U1	MAFF	1.227906555	3.37E-11	Transcription factor	BrainSpLMD|23764	OMIM|604877
U1	DCBLD2	0.894379121	3.47E-11	Adhesion molecule	BrainSpLMD|131566	OMIM|608698
U1	SVIL	0.740519787	3.55E-11	Cytoskeletal associated protein	BrainSpLMD|6840;Eurexp|euxassay_011675|epidermis, exoccipital bone, meninges, midgut, pharyngo-tympanic tube, skeletal muscle, stomach, vibrissa	OMIM|604126
U1	FERMT2	0.516067523	3.61E-11	Cytoskeletal protein	BrainSpLMD|10979;Eurexp|euxassay_012610|hindgut, metanephros, midgut, stomach, ventricular layer, wall	OMIM|607746
U1	PABPC1	0.651865387	3.85E-11	RNA binding protein	Eurexp|euxassay_005676|embryo	OMIM|604679;COSMIC||HNSCC, biliary tract carcinoma
U1	SNORA33	1.059429233	3.94E-11			
U1	SHC1	2.008522002	3.96E-11	Adapter molecule	BrainSpLMD|6464;BrainSpMouseDev|20179	OMIM|600560
U1	PSMB5	0.373862745	4.09E-11	Ubiquitin proteasome system protein	BrainSpLMD|5693;Eurexp|euxassay_005692|embryo	OMIM|600306
U1	ITGA9	2.58903687	4.28E-11	Cell junction protein	BrainSpLMD|3680;Eurexp|euxassay_011292|excretory component, lung, mantle layer, stomach, submandibular gland primordium, testis, vibrissa	OMIM|603963
U1	RPL30	0.283121613	4.33E-11	Ribosomal subunit	BrainSpLMD|6156	OMIM|180467
U1	RPL10A	0.271904745	4.39E-11	Ribosomal subunit		OMIM|615660
U1	EXT2	1.759924347	4.50E-11	Enzyme: Glycosyltransferase	BrainSpLMD|2132	OMIM|608210;COSMIC||exostoses, osteosarcoma;HPO|2132|Abnormality of femur morphology, Abnormality of the dentition, Abnormality of the humerus, Abnormality of the metaphysis, Abnormality of tibia morphology, Anteverted nares, Aseptic necrosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone pain, Brachycephaly, Broad nasal tip, Cervical myelopathy, Chondrosarcoma, Coarse facial features, Constipation, Coxa vara, Cranial nerve paralysis, Cryptorchidism, Decreased skull ossification, Depressed nasal tip, Downturned corners of mouth, Epicanthus, Exostoses, Failure to thrive, Gastroesophageal reflux, Generalized hypotonia, Genu valgum, Global developmental delay, Hypertelorism, Hypoplasia of the ulna, Infantile onset, Juvenile onset, Macrocephaly, Madelung deformity, Madelung-like forearm deformities, Micrognathia, Micromelia, Micropenis, Multiple exostoses, Muscle weakness, Nystagmus, Overlapping toe, Parietal foramina, Pelvic bone exostoses, Peripheral nerve compression, Poor speech, Prominent nasal bridge, Protuberances at ends of long bones, Radial bowing, Rib exostoses, Scapular exostoses, Scoliosis, Seizures, Short metacarpal, Short philtrum, Short stature, Strabismus, Underdeveloped nasal alae, Ventricular septal defect
U1	COPB2	0.875145076	4.65E-11	Transport/cargo protein	BrainSpLMD|9276;Eurexp|euxassay_003332|cervical, cervico-thoracic, glomeruli, incisor, left, marginal layer, olfactory, right, submandibular gland primordium, testis, thoracic, thymus primordium, ventricular layer, vibrissa	OMIM|606990
U1	NOG	0.842113076	5.57E-11	Secreted polypeptide	BrainSpLMD|9241;Eurexp|euxassay_009618|axial skeleton, mandible, mantle layer, nasal septum, otic capsule, phalanx, rib, sternum, thyroid, turbinate bones, ventral grey horn;BrainSpMouseDev|17888	OMIM|602991;HPO|9241|2-3 toe syndactyly, Abnormal vertebral morphology, Abnormality of the ankles, Absent distal interphalangeal creases, Absent distal phalanges, Absent fingernail, Absent phalangeal crease, Anonychia, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the nails, Aplastic/hypoplastic toenail, Autosomal dominant inheritance, Brachydactyly, Broad hallux, Broad thumb, Camptodactyly of finger, Carpal synostosis, Clinodactyly, Conductive hearing impairment, Congenital stapes ankylosis, Cubitus valgus, Cutaneous finger syndactyly, Cutaneous syndactyly of toes, Dislocated radial head, Elbow ankylosis, Elbow dislocation, Enlargement of the costochondral junction, Finger syndactyly, Fusion of midphalangeal joints, Hypermetropia, Hypoplastic nasal septum, Hypoplastic spinal processes, Long nose, Low hanging columella, Lower limb undergrowth, Metacarpophalangeal synostosis, Narrow face, Pectus excavatum, Progressive conductive hearing impairment, Progressive fusion 2nd-5th pip joints, Proximal placement of thumb, Proximal symphalangism, Proximal symphalangism of hands, Proximal/middle symphalangism of 5th finger, Radial deviation of finger, Sensorineural hearing impairment, Short 1st metacarpal, Short 5th metacarpal, Short distal phalanx of finger, Short distal phalanx of toe, Short finger, Short foot, Short hallux, Short humerus, Short lower limbs, Short philtrum, Short stature, Short sternum, Single transverse palmar crease, Spinal canal stenosis, Stapes ankylosis, Strabismus, Symphalangism affecting the phalanges of the hand, Synostosis of carpal bones, Tarsal synostosis, Thick upper lip vermilion, Thin upper lip vermilion, Toe syndactyly, Type B brachydactyly, Underdeveloped nasal alae, Waddling gait
U1	C8orf59	0.823336227	5.92E-11	Unclassified	BrainSpLMD|401466	
U1	NAV2	0.776345839	6.47E-11	DNA binding protein	BrainSpLMD|89797;Eurexp|euxassay_008549|incisor, mantle layer, marginal layer, molar, neural retina, skeletal muscle, submandibular gland primordium, thymus primordium, ventral grey horn, vertebral axis muscle system, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|607026
U1	KLHL15	1.284769497	6.52E-11	Unclassified		OMIM|300980;HPO|80311|Absent speech, Anteverted nares, Coarse facial features, Cryptorchidism, Global developmental delay, Intellectual disability, Micropenis, Polymicrogyria, Seizures, Ventriculomegaly, Wide mouth, X-linked recessive inheritance
U1	ACKR3	1.458477863	6.69E-11	G protein coupled receptor	BrainSpLMD|57007;Eurexp|euxassay_005213|atrium, calyces, capsule, cortex, mantle layer, marginal layer, medulla, meninges, mesenchyme, oesophagus, stomach, ventricle, ventricular layer	OMIM|610376;COSMIC||lipoma
U1	FGFR2	0.280046075	6.80E-11	Receptor tyrosine kinase	BrainSpLMD|2263;BrainSpMouseDev|13960	OMIM|176943;COSMIC||gastric, NSCLC, endometrial, Crouzon, Pfeiffer, and Apert syndromes;HPO|2263|2-3 finger syndactyly, 2-3 toe syndactyly, Abnormal facial shape, Abnormal heart morphology, Abnormal morphology of the limbic system, Abnormal renal morphology, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the cervical spine, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the palate, Abnormality of the pancreas, Abnormality of the periosteum, Abnormality of the pinna, Abnormality of the ribs, Absence of Stensen duct, Absent first metatarsal, Absent lacrimal punctum, Absent proximal phalanx of thumb, Absent radius, Absent septum pellucidum, Acanthosis nigricans, Acne, Acrobrachycephaly, Agenesis of corpus callosum, Alacrima, Anomalous tracheal cartilage, Anteriorly placed anus, Anteverted nares, Aplasia of the parotid gland, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Arachnodactyly, Arachnoid cyst, Arnold-Chiari malformation, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bicoronal synostosis, Bifid scrotum, Bifid uvula, Bilateral single transverse palmar creases, Bilateral triphalangeal thumbs, Blepharospasm, Brachycephaly, Brachydactyly, Brachyturricephaly, Breast carcinoma, Broad distal hallux, Broad distal phalanx of the thumb, Broad forehead, Broad hallux, Broad hallux phalanx, Broad metatarsal, Broad thumb, Bronchomalacia, Buphthalmos, Calcaneonavicular fusion, Camptodactyly, Camptodactyly of finger, Carious teeth, Cartilaginous trachea, Cerebellar hypoplasia, Cervical C5/C6 vertebrae fusion, Choanal atresia, Choanal stenosis, Chronic otitis media, Cleft of chin, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Cloverleaf skull, Conductive hearing impairment, Congenital stationary night blindness, Conical incisor, Conjunctivitis, Convex nasal ridge, Corneal perforation, Coronal craniosynostosis, Coronal hypospadias, Craniofacial dysostosis, Craniosynostosis, Cryptorchidism, Cupped ear, Cutaneous finger syndactyly, Dacryocystitis, Decreased calvarial ossification, Delayed cranial suture closure, Delayed eruption of primary teeth, Delayed eruption of teeth, Dental crowding, Dental malocclusion, Depressed nasal bridge, Deviation of the thumb, Dolichocephaly, Downslanted palpebral fissures, Dysgerminoma, Ectopic anus, Elbow ankylosis, Esophageal atresia, External ear malformation, Extramedullary hematopoiesis, Facial asymmetry, Feeding difficulties in infancy, Femoral bowing, Finger syndactyly, Flat face, Flat forehead, Frontal bossing, Fused labia minora, Gingival overgrowth, Global developmental delay, Growth abnormality, Hallux valgus, Hallux varus, Hearing abnormality, Hearing impairment, High forehead, High palate, Hirsutism, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hyperextensible skin, Hyperlordosis, Hypertelorism, Hypertension, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the lacrimal puncta, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplasia of the zygomatic bone, Hypoplastic ischia, Hypoplastic labia majora, Hypoplastic lacrimal duct, Incomplete ossification of pubis, Increased intracranial pressure, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Joint stiffness, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Lambdoidal craniosynostosis, Large fontanelles, Laryngomalacia, Limitation of joint mobility, Limited elbow extension, Long nose, Long philtrum, Low anterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Malar flattening, Mandibular prognathia, Megalencephaly, Megalocornea, Melanocytic nevus, Metopic depression, Micrognathia, Microtia, Midface retrusion, Mixed hearing impairment, Morphological abnormality of the semicircular canal, Multiple suture craniosynostosis, Narrow chest, Narrow internal auditory canal, Narrow nose, Narrow palate, Narrow pelvis bone, Nasolacrimal duct obstruction, Natal tooth, Nephrosclerosis, Open bite, Optic atrophy, Osteopenia, Overfolding of the superior helices, Overriding aorta, Oxycephaly, Palmoplantar cutis gyrata, Palmoplantar cutis laxa, Palmoplantar keratoderma, Parietal foramina, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of the distal phalanx of the 3rd finger, Partial duplication of thumb phalanx, Periorbital fullness, Plagiocephaly, Posterior fossa cyst, Preauricular skin furrow, Preaxial polydactyly, Prominent crus of helix, Prominent nasal bridge, Prominent scrotal raphe, Proptosis, Ptosis, Pyloric stenosis, Radial deviation of the 3rd finger, Radioulnar synostosis, Recurrent corneal erosions, Reduced number of teeth, Renal agenesis, Respiratory distress, Rocker bottom foot, Sagittal craniosynostosis, Seizures, Shallow orbits, Short clavicles, Short foot, Short hallux, Short metatarsal, Short middle phalanx of toe, Short nose, Short palm, Short stature, Shortening of all middle phalanges of the fingers, Skull asymmetry, Sleep apnea, Small hand, Small nail, Small thenar eminence, Somatic mutation, Steep acetabular roof, Stenosis of the external auditory canal, Stomach cancer, Strabismus, Subcutaneous nodule, Syndactyly, Synostosis of carpal bones, Telecanthus, Toe syndactyly, Tracheomalacia, Turricephaly, Ulnar bowing, Underdeveloped supraorbital ridges, Upper airway obstruction, Vaginal atresia, Variable expressivity, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide anterior fontanel, Xerostomia
U1	IKBIP	1.214017934	6.81E-11	Unclassified	BrainSpLMD|121457;Eurexp|euxassay_008119|mandible, maxilla, rib	OMIM|609861
U1	OXR1	0.826022683	7.07E-11	Unclassified	BrainSpLMD|55074	OMIM|605609
U1	DAP	0.937869957	7.47E-11	Unclassified	BrainSpLMD|1611;Eurexp|euxassay_008199|clavicle, femur, mandible, maxilla, nucleus pulposus, orbito-sphenoid, pancreas, rib, turbinate	OMIM|600954
U1	TLN1	0.55182027	8.06E-11	Cytoskeletal associated protein	BrainSpLMD|7094;Eurexp|euxassay_011794|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	OMIM|186745
U1	RPL12	0.331843029	8.18E-11	Ribosomal subunit		OMIM|180475
U1	FZD1	2.079615014	8.87E-11	G protein coupled receptor	BrainSpLMD|8321;Eurexp|euxassay_014936|diaphragm, forelimb, hindbrain, hindlimb, lung, medulla oblongata, mesenchyme, metanephros, midgut, spinal cord, stomach, thymus primordium, tongue, vertebral axis muscle system;BrainSpMouseDev|14138	OMIM|603408
U1	STOM	1.007151098	8.89E-11	Integral membrane protein	BrainSpLMD|2040;Eurexp|euxassay_005540|bladder, hindgut, left, midgut, rectum, right, wall	OMIM|133090;HPO|2040|Autosomal dominant inheritance, Hemolytic anemia, Hepatomegaly, Hyperbilirubinemia, Increased intracellular sodium, Increased red cell osmotic fragility, Jaundice, Reticulocytosis, Splenomegaly, Stomatocytosis
U1	TLK1	0.305685425	9.07E-11	Serine/threonine kinase	BrainSpLMD|9874	OMIM|608438
U1	SPOCK3	1.953300461	1.00E-10	Extracellular matrix protein	BrainSpLMD|50859	OMIM|607989
U1	PLOD3	1.781219061	1.02E-10	Enzyme: Hydroxylase	BrainSpLMD|8985;Eurexp|euxassay_000665|axial skeleton, chondrocranium, incisor, nasal capsule, pectoral girdle and thoracic body wall	OMIM|603066;HPO|8985|Abnormality of the pinna, Anteverted nares, Arterial rupture, Autosomal recessive inheritance, Bruising susceptibility, Cataract, Coarse hair, Decreased palmar creases, Diaphragmatic eventration, Dilatation of the cerebral artery, Downturned corners of mouth, Elbow flexion contracture, Flat face, Global developmental delay, Hearing impairment, Hypoplasia of the capital femoral epiphysis, Intrauterine growth retardation, J-shaped sella turcica, Long philtrum, Low-set ears, Malar flattening, Myopia, Nail dysplasia, Osteopenia, Pathologic fracture, Platyspondyly, Postnatal growth retardation, Scoliosis, Shallow orbits, Short nose, Talipes equinovarus, Thenar muscle atrophy
U1	LTBP4	0.603921245	1.03E-10	Extracellular matrix protein	BrainSpLMD|8425	OMIM|604710;HPO|8425|Autosomal recessive inheritance, Bladder diverticulum, Bronchomalacia, Calf muscle hypertrophy, Cardiomyopathy, Cognitive impairment, Cutis laxa, Delayed speech and language development, Elevated serum creatine phosphokinase, Emphysema, Flexion contracture, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hydronephrosis, Hypertelorism, Inguinal hernia, Joint laxity, Laryngomalacia, Long philtrum, Malar flattening, Micrognathia, Midface retrusion, Motor delay, Patent foramen ovale, Periorbital edema, Progressive muscle weakness, Proximal muscle weakness, Pulmonary artery stenosis, Pulmonary hypoplasia, Pyloric stenosis, Rectal prolapse, Respiratory insufficiency, Retrognathia, Sandal gap, Scoliosis, Skeletal muscle atrophy, Sloping forehead, Specific learning disability, Tracheomalacia, Umbilical hernia, Waddling gait, Wide nasal bridge
U1	GNG12	1.203187436	1.06E-10	G protein	BrainSpLMD|55970;Eurexp|euxassay_002072|ventricular layer	OMIM|615405
U1	BET1	0.666597129	1.06E-10	Integral membrane protein	BrainSpLMD|10282	OMIM|605456
U1	TRIM5	1.554854142	1.06E-10	Ubiquitin proteasome system protein	BrainSpLMD|85363	OMIM|608487
U1	AASS	0.472629578	1.12E-10	Enzyme: Oxidoreductase;Enzyme: Synthase	BrainSpLMD|10157	OMIM|605113;HPO|10157|Abnormality of the genitourinary system, Anemia, Autosomal recessive inheritance, Cognitive impairment, Delayed speech and language development, EEG abnormality, Ectopia lentis, Histidinuria, Hyperactivity, Hyperlysinemia, Hyperlysinuria, Infantile onset, Intellectual disability, Intellectual disability, mild, Muscular hypotonia, Phenotypic variability, Seizures, Short attention span, Short stature, Spastic diplegia
U1	SAT1	0.357298941	1.12E-10	Enzyme: Acyltransferase	BrainSpLMD|6303;Eurexp|euxassay_018693|bladder, incisor, metanephros, olfactory, urethra, vibrissa	OMIM|313020;HPO|6303|Blepharitis, Conjunctivitis, Corneal dystrophy, Dry skin, Dystrophic fingernails, Ectropion, Facial erythema, Follicular hyperkeratosis, Folliculitis, Heterogeneous, Keratitis, Nail dysplasia, Palmoplantar keratoderma, Perifollicular fibrosis, Photophobia, Scarring alopecia of scalp, Sparse and thin eyebrow, Sparse eyelashes, X-linked recessive inheritance
U1	MMP14	0.760756686	1.18E-10	Metallo protease	BrainSpLMD|4323;Eurexp|euxassay_018541|head mesenchyme, mantle layer, rib	OMIM|600754;HPO|4323|Arthropathy, Coarse facial features, Corneal opacity, Generalized osteoporosis, Gingival overgrowth, Osteolysis involving bones of the feet, Osteolysis involving bones of the upper limbs
U1	MOB1A	0.840643074	1.29E-10	Unclassified	BrainSpLMD|55233	OMIM|609281
U1	ACTN1	0.36453522	1.30E-10	Cytoskeletal associated protein;Structural protein	BrainSpLMD|87	OMIM|102575;HPO|87|Anisocytosis, Autosomal dominant inheritance, Increased mean platelet volume, Thrombocytopenia
U1	TM9SF2	0.732298685	1.31E-10	Integral membrane protein	BrainSpLMD|9375;Eurexp|euxassay_008168|basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, left, midgut, orbito-sphenoid, otic capsule, petrous part, rib, right, turbinate	OMIM|604678
U1	IFI44L	2.177162358	1.40E-10	Unclassified	BrainSpLMD|10964;Eurexp|euxassay_000516|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, medulla oblongata, mesenchyme, metencephalon, midbrain, olfactory, retina, stroma, sublingual gland primordium, submandibular gland primordium, thoracic, trigeminal V, urethra, vagus X, vestibulocochlear VIII	OMIM|613975
U1	GLS	0.88573815	1.44E-10	Enzyme: Deaminase	BrainSpLMD|2744;BrainSpMouseDev|14436	OMIM|138280
U1	PHPT1	0.2701267	1.50E-10	Enzyme: Phosphatase	BrainSpLMD|29085	OMIM|610167
U1	C14orf119	0.985408097	1.63E-10	Unclassified		
U1	ANTXR1	0.958523712	1.66E-10	Cell surface receptor	BrainSpLMD|84168	OMIM|606410;HPO|84168|Abnormal form of the vertebral bodies, Abnormality of metabolism/homeostasis, Abnormality of pelvic girdle bone morphology, Abnormality of the cerebral vasculature, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the palate, Alopecia, Anteverted nares, Autosomal recessive inheritance, Breast hypoplasia, Broad forehead, Delayed cranial suture closure, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Early balding, Everted lower lip vermilion, Frontal bossing, Glaucoma, Growth delay, High forehead, Hyperextensible skin, Hypertelorism, Hypoplastic nipples, Hypotrichosis, Joint hyperflexibility, Keratoconus, Long philtrum, Low-set ears, Mandibular prognathia, Micrognathia, Midface retrusion, Nystagmus, Optic atrophy, Palpebral edema, Prematurely aged appearance, Prominent scalp veins, Protruding ear, Short stature, Skin tags, Sparse and thin eyebrow, Sparse eyelashes, Thick lower lip vermilion, Thick nasal alae, Tubulointerstitial fibrosis, Umbilical hernia, Underdeveloped supraorbital ridges, Unerupted tooth, Visual impairment, Wide anterior fontanel
U1	PRAF2	0.678276995	1.68E-10	Integral membrane protein	BrainSpLMD|11230;Eurexp|euxassay_001741|dorsal root ganglion, glossopharyngeal IX, trigeminal V	OMIM|300840
U1	GAPDH	0.308714113	1.81E-10	Enzyme: Dehydrogenase		OMIM|138400
U1	ARHGAP1	0.351425444	1.83E-10	GTPase activating protein	BrainSpLMD|392	OMIM|602732
U1	VCAM1	1.654243924	1.88E-10	Adhesion molecule	BrainSpLMD|7412	OMIM|192225
U1	SEC61A1	1.233960923	1.91E-10	Integral membrane protein	BrainSpLMD|29927;Eurexp|euxassay_004866|clavicle, cranium, incisor, mandible, maxilla, rib, vibrissa	OMIM|609213;HPO|29927|Anemia, Autosomal dominant inheritance, Chronic kidney disease, Cognitive impairment, Focal segmental glomerulosclerosis, Gout, Intrauterine growth retardation, Nephropathy, Neutropenia, Progressive, Renal cyst, Short stature
U1	TMEM216	1.099822181	1.98E-10	Unclassified	BrainSpLMD|51259	OMIM|613277;HPO|51259|Abnormal renal physiology, Abnormality of saccadic eye movements, Abnormality of the corpus callosum, Abnormality of the foot, Agenesis of cerebellar vermis, Anencephaly, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autistic behavior, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Blindness, Bowing of the long bones, Brainstem dysplasia, Cataract, Central apnea, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cleft palate, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Depressed nasal ridge, Dolichocephaly, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar peduncle, Encephalocele, Enlarged fossa interpeduncularis, Episodic tachypnea, Esotropia, Failure to thrive, Frontal bossing, Full cheeks, Generalized hypotonia, Global developmental delay, Heterogeneous, High palate, Hydrocephalus, Hypertelorism, Hypoplasia of the brainstem, Hypoplastic male external genitalia, Impaired smooth pursuit, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Meningocele, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nephropathy, Nystagmus, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic nerve coloboma, Phenotypic variability, Polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Ptosis, Renal cyst, Retinal dystrophy, Sclerocornea, Sloping forehead, Tachypnea, Talipes, Thickened superior cerebellar peduncle, Visual impairment
U1	RPLP0P6	0.305753199	2.01E-10			
U1	MID1	0.607916841	2.12E-10	Transcription regulatory protein;Ubiquitin proteasome system protein	BrainSpLMD|4281;Eurexp|euxassay_013835|excretory component, marginal layer, neural retina, ventricular layer;BrainSpMouseDev|17087	OMIM|300552;HPO|4281|Abnormal heart morphology, Abnormality of the nasopharynx, Agenesis of corpus callosum, Anal atresia, Anteverted nares, Aspiration, Cleft palate, Cleft upper lip, Cryptorchidism, Dysphagia, Esophageal atresia, Frontal bossing, Gastroesophageal reflux, Global developmental delay, Heterogeneous, High palate, Hypertelorism, Hypospadias, Posterior pharyngeal cleft, Prominent forehead, Smooth philtrum, Telecanthus, Thin upper lip vermilion, Tracheoesophageal fistula, Wide nasal bridge, Widow's peak, X-linked recessive inheritance
U1	PID1	0.315057812	2.20E-10	Unclassified	BrainSpLMD|55022	OMIM|612930
U1	MTHFD2	1.050894431	2.29E-10	Enzyme: Dehydrogenase	BrainSpLMD|10797	OMIM|604887
U1	B4GALT4	1.175000616	2.40E-10	Enzyme: Galactosyltransferase	BrainSpLMD|8702;Eurexp|euxassay_016198|thyroid	OMIM|604015
U1	PON2	0.413810675	2.47E-10	Enzyme: Esterase	BrainSpLMD|5445	OMIM|602447;HPO|5445|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
U1	PIAS3	1.379078152	2.50E-10	Transcription regulatory protein	BrainSpLMD|10401;Eurexp|euxassay_012427|ventricular layer	OMIM|605987
U1	TCEAL8	0.66127161	2.52E-10	Unclassified	BrainSpLMD|90843	
U1	RSU1	0.90809611	2.52E-10	Unclassified	BrainSpLMD|6251	OMIM|179555
U1	GLB1	1.389787211	2.57E-10	Enzyme: Hydroxylase	BrainSpLMD|2720	OMIM|611458;HPO|2720|Abnormality of blood and blood-forming tissues, Abnormality of the face, Abnormality of the heart valves, Abnormality of the liver, Abnormality of the spleen, Abnormality of the urinary system, Angiokeratoma corporis diffusum, Anterior beaking of lumbar vertebrae, Aortic valve stenosis, Ataxia, Autosomal recessive inheritance, Beaking of vertebral bodies, Carious teeth, Cerebral atrophy, Cerebral degeneration, Cervical myelopathy, Cervical subluxation, Cherry red spot of the macula, Coarse facial features, Congestive heart failure, Constricted iliac wings, Coxa valga, Death in infancy, Decreased beta-galactosidase activity, Depressed nasal ridge, Developmental stagnation, Diffuse cerebral atrophy, Dilated cardiomyopathy, Disproportionate short-trunk short stature, Dystonia, Epiphyseal deformities of tubular bones, Flared iliac wings, Flaring of rib cage, Foam cells, Frontal bossing, Gait disturbance, Generalized myoclonic seizures, Genu valgum, Gingival overgrowth, Grayish enamel, Hearing impairment, Hepatomegaly, Hyperlordosis, Hypertelorism, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoplasia of the odontoid process, Hypoplastic acetabulae, Hypoplastic vertebral bodies, Inguinal hernia, Intellectual disability, Intellectual disability, mild, Intimal thickening in the coronary arteries, Joint laxity, Joint stiffness, Juvenile onset, Keratan sulfate excretion in urine, Kyphosis, Mandibular prognathia, Metaphyseal widening, Opacification of the corneal stroma, Optic atrophy, Osteoporosis, Ovoid vertebral bodies, Platyspondyly, Pointed proximal second through fifth metacarpals, Progressive psychomotor deterioration, Prominent sternum, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Scoliosis, Sea-blue histiocytosis, Severe short stature, Short neck, Short stature, Skeletal muscle atrophy, Slurred speech, Spastic tetraplegia, Splenomegaly, Thickened ribs, Ulnar deviation of the wrist, Vacuolated lymphocytes, Ventriculomegaly, Wide mouth, Widely spaced teeth
U1	ASPH	1.138344469	2.91E-10	Enzyme: Hydroxylase	BrainSpLMD|444	OMIM|600582;HPO|444|Abnormal facial shape, Autosomal recessive inheritance, Convex nasal ridge, Dental malocclusion, Downslanted palpebral fissures, Ectopia lentis, Iris atrophy, Large beaked nose, Prominent nose, Retrognathia
U1	ERRFI1	0.863256741	2.91E-10	Cytoskeletal protein	BrainSpLMD|54206	OMIM|608069
U1	ZFAS1	0.277842304	3.05E-10			
U1	ETF1	0.462972195	3.13E-10	Translation regulatory protein	BrainSpLMD|2107	OMIM|600285
U1	PER1	1.256637416	3.36E-10	Transcription regulatory protein	BrainSpLMD|5187;BrainSpMouseDev|18392	SFARI||Autism, 4 - Minimal evidence;OMIM|602260;COSMIC||AML, CMML
U1	EEF1B2	0.456080267	3.49E-10	Translation regulatory protein	BrainSpLMD|1933	OMIM|600655
U1	THBS3	2.024341405	3.60E-10	Extracellular matrix protein	BrainSpLMD|7059;Eurexp|euxassay_010545|brain, mesenchyme, spinal cord;BrainSpMouseDev|21586	OMIM|188062
U1	RP11.758P17.3	1.207322332	3.69E-10			
U1	RAP1B	0.812010399	3.90E-10	GTPase	BrainSpLMD|5908	OMIM|179530;HPO|5908|Abnormal dermatoglyphics, Abnormality of the cardiac septa, Butterfly vertebrae, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Conductive hearing impairment, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Hemivertebrae, High palate, Highly arched eyebrow, Hydrocephalus, Hypodontia, Joint hyperflexibility, Long eyelashes, Macrotia, Microcephaly, Microdontia, Muscular hypotonia, Protruding ear, Ptosis, Recurrent infections, Scoliosis, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Sparse lateral eyebrow, Strabismus, Ventriculomegaly, Widely spaced teeth
U1	MMP16	0.83926709	4.00E-10	Metallo protease	BrainSpLMD|4325;Eurexp|euxassay_002543|body-wall mesenchyme, cochlear duct, cranium, head mesenchyme, mandible, rib, vibrissa	OMIM|602262
U1	CLIC1	0.548537705	4.11E-10	Intracellular ligand gated channel	BrainSpLMD|1192	OMIM|602872
U1	TMED2	0.756223619	4.52E-10	Transport/cargo protein	BrainSpLMD|10959	
U1	RP13.585F24.1	0.318795414	5.10E-10			
U1	CHPF	0.694242388	5.12E-10	Enzyme: Glycosyltransferase	BrainSpLMD|79586	OMIM|610405
U1	C9orf3	0.760188552	5.66E-10	Aminopeptidase	BrainSpLMD|84909	
U1	TACC1	0.919836086	5.73E-10	Cell cycle control protein	BrainSpLMD|6867	OMIM|605301
U1	RPL24	0.25846843	5.79E-10	Ribosomal subunit		OMIM|604180
U1	PTEN	0.544061021	5.85E-10	Lipid phosphatase	BrainSpLMD|5728;BrainSpMouseDev|18974	SFARI||Autism, 1 - High confidence;OMIM|601728;COSMIC||glioma, prostate, endometrial, harmartoma, glioma, prostate, endometrial;HPO|5728|Abnormal form of the vertebral bodies, Abnormal heart morphology, Abnormal lung lobation, Abnormal subcutaneous fat tissue distribution, Abnormal vertebral morphology, Abnormality of metabolism/homeostasis, Abnormality of the eye, Abnormality of the fallopian tube, Abnormality of the large intestine, Abnormality of the parathyroid gland, Abnormality of the penis, Abnormality of the pupil, Abnormality of the vasculature, Abnormally prominent line of Schwalbe, Absent thumb, Acanthosis nigricans, Acrokeratosis, Adenoma sebaceum, Adult onset, Amblyopia, Anal atresia, Angioid streaks of the retina, Angiokeratoma, Aqueductal stenosis, Arteriovenous malformation, Asymmetry of the thorax, Ataxia, Atypical nevi in non-sun exposed areas, Atypical nevus, Autism, Autosomal dominant inheritance, Autosomal recessive inheritance, Biparietal narrowing, Birth length greater than 97th percentile, Breast carcinoma, Broad forehead, Bronchogenic cyst, Cachexia, Cafe-au-lait spot, Calvarial hyperostosis, Capillary hemangiomas, Cataract, Cavernous hemangioma, Cognitive impairment, Colonic diverticula, Colorectal polyposis, Communicating hydrocephalus, Conjunctival hamartoma, Cranial nerve paralysis, Cutaneous melanoma, Decreased muscle mass, Delayed gross motor development, Delayed speech and language development, Depressed nasal bridge, Disproportionate tall stature, Dolichocephaly, Downslanted palpebral fissures, Endometrial carcinoma, Enlarged cerebellum, Epibulbar dermoid, Epidermal nevus, Excessive wrinkled skin, Exostoses, Fibroadenoma of the breast, Finger syndactyly, Follicular thyroid carcinoma, Frontal bossing, Furrowed tongue, Generalized hyperkeratosis, Generalized hypotonia, Genu recurvatum, Global developmental delay, Goiter, Gynecomastia, Hamartomatous polyposis, Hand polydactyly, Hashimoto thyroiditis, Headache, Hearing impairment, Hemangioma, Hematochezia, Heterochromia iridis, High palate, Hydrocele testis, Hydrocephalus, Hyperostosis, Hypertelorism, Hyperthyroidism, Hypoglycemia, Hypoplasia of the maxilla, Hypothyroidism, Increased intracranial pressure, Intellectual disability, Intellectual disability, mild, Intention tremor, Intestinal polyposis, Intraocular melanoma, Intussusception, Irregular hyperpigmentation, Joint hypermobility, Juvenile onset, Kyphosis, Lipoma, Long penis, Long philtrum, Lower limb asymmetry, Lymphangioma, Lymphedema, Macrocephaly, Macrodactyly, Macroglossia, Macrotia, Macule, Mandibular prognathia, Melanocytic nevus, Meningioma, Micrognathia, Mucosal telangiectasiae, Multiple cafe-au-lait spots, Multiple lipomas, Myopathy, Myopia, Narrow mouth, Nausea and vomiting, Neoplasm of the breast, Neoplasm of the thyroid gland, Nevus, Non-medullary thyroid carcinoma, Numerous nevi, Obesity, Open bite, Ovarian cyst, Ovarian neoplasm, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Papilloma, Papule, Pectus excavatum, Polymicrogyria, Postnatal growth retardation, Postnatal macrocephaly, Primary peritoneal carcinoma, Progressive macrocephaly, Pseudopapilledema, Pulmonary embolism, Radial club hand, Reduced bone mineral density, Renal hypoplasia, Respiratory failure, Retinal detachment, Round face, Scoliosis, Seizures, Shagreen patch, Short nose, Short stature, Skeletal dysplasia, Skin tags, Squamous cell carcinoma, Stillbirth, Strabismus, Subcutaneous hemorrhage, Subcutaneous lipoma, Subcutaneous nodule, Supernumerary nipple, Thick corpus callosum, Thrombophlebitis, Thyroid adenoma, Thyroiditis, Transitional cell carcinoma of the bladder, Trichilemmoma, Upper limb asymmetry, Varicocele, Vascular skin abnormality, Venous insufficiency, Visceral angiomatosis
U1	STT3A	0.852724035	5.93E-10	Integral membrane protein	BrainSpLMD|3703;Eurexp|euxassay_004591|clavicle, mandible, maxilla, orbito-sphenoid, rib, turbinate bones	OMIM|601134;HPO|3703|Abnormal glycosylation, Autosomal recessive inheritance, Cerebellar atrophy, Congenital onset, Cryptorchidism, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Impaired smooth pursuit, Intellectual disability, Microcephaly, Micropenis, Scrotal hypoplasia, Seizures
U1	GDI2	0.509434912	6.06E-10	Membrane transport protein	BrainSpLMD|2665	OMIM|600767
U1	PPP4R2	0.853793775	6.17E-10	Serine/threonine phosphatase	BrainSpLMD|151987	OMIM|613822
U1	RPL28	0.384509565	6.37E-10	Ribosomal subunit	BrainSpLMD|6158	OMIM|603638
U1	RORA	1.245154624	6.38E-10	Nuclear receptor	BrainSpLMD|6095;Eurexp|euxassay_018175|anterior, dorsal grey horn, external, mantle layer, medulla, thymus primordium, vibrissa;BrainSpMouseDev|19646	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600825
U1	NAALAD2	0.792522225	8.01E-10	Enzyme: Hydrolase	BrainSpLMD|10003	OMIM|611636
U1	RPL19	0.295467527	8.19E-10	Ribosomal subunit	BrainSpLMD|6143	OMIM|180466
U1	EIF3J	0.504094993	8.77E-10	Translation regulatory protein	BrainSpLMD|8669	OMIM|603910
U1	AC000089.3	0.266280443	8.81E-10			
U1	PHGDH	0.327184462	9.64E-10	Enzyme: Dehydrogenase	BrainSpLMD|26227	OMIM|606879;HPO|26227|Ablepharon, Abnormality of the philtrum, Absent eyelashes, Absent septum pellucidum, Adducted thumb, Agenesis of corpus callosum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Bifid uterus, Broad foot, Calcaneovalgus deformity, Camptodactyly, Cataract, Cerebellar hypoplasia, Cerebral dysmyelination, Choroid plexus cyst, Cleft palate, Cleft upper lip, Clinodactyly, Congenital cataract, Congenital microcephaly, Cryptorchidism, Dandy-Walker malformation, Decreased fetal movement, Decreased testicular size, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Finger syndactyly, Generalized edema, Growth delay, Hydranencephaly, Hypertelorism, Hypogonadism, Hypsarrhythmia, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Lack of skin elasticity, Large hands, Lissencephaly, Macrogyria, Macrotia, Megaloblastic anemia, Microcephaly, Micrognathia, Micromelia, Microphthalmia, Muscle cramps, Muscular dystrophy, Nystagmus, Opisthotonus, Pachygyria, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Polymicrogyria, Proptosis, Pterygium, Pulmonary hypoplasia, Radial deviation of finger, Renal agenesis, Rocker bottom foot, Seizures, Short neck, Short umbilical cord, Skeletal muscle atrophy, Sloping forehead, Small placenta, Spastic tetraplegia, Spina bifida, Stillbirth, Thick lower lip vermilion, Thick vermilion border, Thrombocytopenia, Toe syndactyly, Transposition of the great arteries, Trismus, Ventricular septal defect, Yellow subcutaneous tissue covered by thin, scaly skin
U1	ANO6	1.643574225	9.65E-10	Integral membrane protein		OMIM|608663;HPO|196527|Abnormal bleeding, Autosomal recessive inheritance, Factor X activation deficiency
U1	SLC25A6	0.367044217	1.01E-09	Transport/cargo protein		OMIM|403000
U1	NAALADL2	1.633369231	1.08E-09	Unclassified	BrainSpLMD|254827;Eurexp|euxassay_016082|bladder, metanephros, oesophagus, olfactory, pancreas, stomach, urethra, vertebral axis muscle system, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|608806
U1	ATP5B	0.252342687	1.08E-09			
U1	SLC39A13	0.443095773	1.11E-09	Membrane transport protein	BrainSpLMD|91252	OMIM|608735;HPO|91252|Abnormality of the metaphysis, Absent palmar crease, Autosomal recessive inheritance, Bifid uvula, Blue sclerae, Broad femoral neck, Bruising susceptibility, Camptodactyly of finger, Cigarette-paper scars, Delayed eruption of teeth, Dental malocclusion, Downslanted palpebral fissures, Failure to thrive, Flat capital femoral epiphysis, High palate, Hyperextensible skin, Hypodontia, Irregular vertebral endplates, Joint laxity, Metaphyseal widening, Moderately short stature, Osteopenia, Pes planus, Platyspondyly, Prominent superficial veins, Proptosis, Short femoral neck, Short metacarpal, Short phalanx of finger, Skeletal dysplasia, Tapered finger, Thenar muscle atrophy, Thin skin, Waddling gait
U1	ZNF70	1.406028543	1.11E-09	Unclassified	BrainSpLMD|7621	OMIM|194544
U1	RPS3AP5	0.483227442	1.12E-09			
U1	RIPK1	1.75035125	1.13E-09	Serine/threonine kinase	BrainSpLMD|8737	OMIM|603453
U1	TM9SF3	0.711434843	1.15E-09	Membrane transport protein	BrainSpLMD|56889	OMIM|616872
U1	RBM3	0.54984681	1.18E-09	RNA binding protein	BrainSpLMD|5935	OMIM|300027
U1	TSPYL2	0.839991503	1.22E-09	Cell cycle control protein	BrainSpLMD|64061;Eurexp|euxassay_004126|brain, dorsal root ganglion, spinal cord	OMIM|300564
U1	IMPDH2	0.812497331	1.31E-09	Enzyme: Dehydrogenase	BrainSpLMD|3615	OMIM|146691
U1	EMC1	1.400290799	1.39E-09	Unclassified	BrainSpLMD|23065	OMIM|616846;HPO|23065|Anal atresia, Astigmatism, Autosomal recessive inheritance, Cortical visual impairment, Esotropia, Generalized hypotonia, Hypermetropia, Hypoplasia of the corpus callosum, Intellectual disability, Laryngotracheomalacia, Myopia, Optic atrophy, Progressive
U1	BDH2	1.432092686	1.41E-09	Enzyme: Oxidoreductase	BrainSpLMD|56898	
U1	SNX18	1.367152741	1.48E-09	Transport/cargo protein	BrainSpLMD|112574;Eurexp|euxassay_012165|bladder, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, metanephros, trigeminal V, vestibulocochlear VIII	
U1	ANXA6	1.189961306	1.50E-09	Calcium binding protein	BrainSpLMD|309	OMIM|114070
U1	C14orf166	0.497890447	1.52E-09			
U1	EVI5	0.848598663	1.60E-09	Unclassified	BrainSpLMD|7813;Eurexp|euxassay_001717|cervical, cervico-thoracic, lobe;BrainSpMouseDev|13797	OMIM|602942
U1	IQGAP1	0.839691568	1.72E-09	GTPase activating protein	BrainSpLMD|8826;Eurexp|euxassay_010153|choroid plexus, epithelium, hindgut, lung, mandible, metanephros, midgut, oral epithelium, orbito-sphenoid, vibrissa	OMIM|603379
U1	C1DP1	0.583814487	1.72E-09			
U1	PDXDC2P	0.795835434	1.85E-09			
U1	DACT3	0.414142396	1.86E-09	Unclassified	BrainSpLMD|147906	OMIM|611112
U1	RPL17P50	1.135483238	2.12E-09			
U1	AKAP12	0.553134158	2.22E-09	Anchor protein	BrainSpLMD|9590	OMIM|604698
U1	AAMDC	1.220164861	2.32E-09	Unclassified	BrainSpLMD|28971	
U1	HSCB	0.875841297	2.43E-09	Chaperone	BrainSpLMD|150274	OMIM|608142
U1	RPS9	0.464015559	2.48E-09	Ribosomal subunit		OMIM|603631
U1	RAB13	0.969753402	2.55E-09	GTPase	Eurexp|euxassay_003494|meninges, metencephalon, olfactory lobe	OMIM|602672
U1	NUFIP2	0.3911516	2.61E-09	RNA binding protein	BrainSpLMD|57532	OMIM|609356
U1	TUBB6	1.310755063	2.79E-09	Cytoskeletal protein	BrainSpLMD|84617;Eurexp|euxassay_015347|cervical, cervico-thoracic, cochlear component, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, inferior, medulla oblongata, metencephalon, midbrain, neural retina, nucleus pulposus, olfactory, spinal cord, stroma, superior, telencephalon, thoracic, tongue, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII	OMIM|615103
U1	ADK	0.703105821	3.05E-09	Enzyme: Phosphotransferase	BrainSpLMD|132;Eurexp|euxassay_001699|Meckel's cartilage, basisphenoid bone, bladder, cortex, exoccipital bone, foregut-midgut junction, hindgut, lobe, lung, midgut, molar, nucleus pulposus, oesophagus, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, rectum, rib, stomach, submandibular gland primordium, thymus primordium, vault of skull, ventricular layer, vertebra	SFARI||Autism, 4 - Minimal evidence;OMIM|102750;HPO|132|Autosomal recessive inheritance, Cerebral atrophy, Cholestasis, Decreased liver function, Delayed speech and language development, Elevated hepatic transaminases, Failure to thrive, Frontal bossing, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Hypertelorism, Infantile onset, Macrocephaly, Narrow foot, Poor speech, Portal fibrosis, Progressive, Seizures, Skeletal muscle atrophy
U1	SYNGR1	0.584366934	3.06E-09	Integral membrane protein	BrainSpLMD|9145	OMIM|603925
U1	LIX1	0.857459676	3.22E-09	Unclassified	BrainSpLMD|167410	OMIM|610466
U1	GNB2L1	0.344098276	3.25E-09			
U1	PPAP2A	1.17797269	3.30E-09			
U1	CTNNB1	0.388763135	3.37E-09	Adhesion molecule	BrainSpLMD|1499;BrainSpMouseDev|12172	SFARI||Autism, 3 - Suggestive evidence;OMIM|116806;COSMIC||colorectal, ovarian, hepatoblastoma, pleomorphic salivary gland adenoma, other tumour types;HPO|1499|Abdominal pain, Abnormal hypothalamus morphology, Abnormal visual field test, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Autosomal dominant inheritance, Autosomal recessive inheritance, Bitemporal hemianopia, Breast carcinoma, Central adrenal insufficiency, Central diabetes insipidus, Cerebral calcification, Desmoid tumors, Dysgerminoma, Elevated alpha-fetoprotein, Enlarged pituitary gland, Epigastric pain, Excessive daytime somnolence, Fatigue, Generalized hypotonia, Global developmental delay, Headache, Hepatic fibrosis, Hepatic necrosis, Hepatocellular carcinoma, Hepatomegaly, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hypogonadotrophic hypogonadism, Hypoplasia of the corpus callosum, Incomplete penetrance, Infantile onset, Intellectual disability, Intestinal polyposis, Intracranial cystic lesion, Long philtrum, Malabsorption, Medulloblastoma, Microcephaly, Micronodular cirrhosis, Myalgia, Nausea and vomiting, Neoplasm of the anterior pituitary, Neoplasm of the stomach, Neurological speech impairment, Obesity, Ovarian papillary adenocarcinoma, Papilledema, Pilomatrixoma, Pituitary hypothyroidism, Portal vein thrombosis, Progressive visual field defects, Prolactin excess, Renal cell carcinoma, Slow decrease in visual acuity, Somatic mutation, Spastic diplegia, Strabismus, Subacute progressive viral hepatitis, Subcutaneous nodule, Thin upper lip vermilion, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Vomiting
U1	BTG2	0.87198836	3.43E-09	Cell cycle control protein	BrainSpLMD|7832;Eurexp|euxassay_000263|alar plate, diencephalon, epithelium, hindbrain, liver, lung, metencephalon, midbrain, neural retina, oesophagus, oral epithelium, spinal cord, stomach, telencephalon, ventricular layer	OMIM|601597
U1	ARID5B	1.025832689	3.56E-09	DNA binding protein	Eurexp|euxassay_016566|mantle layer;BrainSpMouseDev|47212	OMIM|608538
U1	LHFPL2	1.642282709	3.83E-09	Unclassified	BrainSpLMD|10184	OMIM|609718
U1	RPL5P9	0.507621803	3.88E-09			
U1	CHSY1	0.91797181	3.92E-09	Enzyme: Glycosyltransferase	BrainSpLMD|22856	OMIM|608183;HPO|22856|Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Brachydactyly, Carpal synostosis, Clinodactyly, Deep philtrum, Diastema, Highly arched eyebrow, Hitchhiker thumb, Microdontia, Short metacarpal, Short metatarsal, Syndactyly, Synophrys, Talon cusp, Tarsal synostosis
U1	ATP10D	1.160095019	4.29E-09	ATPase	BrainSpLMD|57205	
U1	SLC2A3	0.715775651	4.32E-09	Membrane transport protein	BrainSpLMD|6515	OMIM|138170;HPO|6515|Abnormality of movement, Abnormality of the voice, Behavioral abnormality, Cerebral cortical atrophy, Dementia, Developmental regression, EEG abnormality, Spasticity
U1	GNG11	0.560214978	4.36E-09	G protein	BrainSpLMD|2791	OMIM|604390
U1	RPL3P4	0.399616559	4.40E-09			
U1	BCLAF1	0.529122886	4.42E-09	Transcription factor	BrainSpLMD|9774	OMIM|612588;COSMIC||melanoma, SCC
U1	SKI	1.218246924	4.84E-09	Transcription factor	BrainSpLMD|6497	OMIM|164780;COSMIC||melanoma;HPO|6497|Abdominal wall muscle weakness, Abnormality of the pinna, Absent speech, Agenesis of corpus callosum, Anteverted nares, Aortic dilatation, Arachnodactyly, Arnold-Chiari type I malformation, Autism, Autosomal dominant inheritance, Brachycephaly, Brachydactyly, C1-C2 vertebral abnormality, Camptodactyly, Camptodactyly of finger, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Conductive hearing impairment, Constipation, Craniosynostosis, Deeply set eye, Delayed cranial suture closure, Dental malocclusion, Depressed nasal bridge, Depressed nasal ridge, Dislocated radial head, Dolichocephaly, Downslanted palpebral fissures, Dysphagia, EEG abnormality, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Frontal bossing, Gait disturbance, Gastroesophageal reflux, Generalized hypotonia, Genu recurvatum, Global developmental delay, High-grade hypermetropia, Horizontal eyebrow, Hydrocephalus, Hyperextensible skin, Hypertelorism, Hypoplasia of the maxilla, Intellectual disability, Joint contracture of the hand, Joint laxity, Lateral clavicle hook, Long philtrum, Low-set, posteriorly rotated ears, Metaphyseal widening, Metatarsus adductus, Microcephaly, Micrognathia, Midface retrusion, Minimal subcutaneous fat, Mitral valve prolapse, Muscular hypotonia, Myopia, Narrow mouth, Narrow palate, Obstructive sleep apnea, Osteopenia, Pectus carinatum, Pectus excavatum, Pes planus, Pointed chin, Poor speech, Ptosis, Scoliosis, Seizures, Self-injurious behavior, Shallow orbits, Short foot, Sporadic, Stereotypy, Strabismus, Supernumerary ribs, Talipes equinovarus, Telecanthus, Thin ribs, Umbilical hernia, Ventriculomegaly, Wide anterior fontanel, Wide nasal bridge
U1	MTMR11	1.136906338	5.24E-09	Lipid phosphatase	BrainSpLMD|10903	
U1	GABARAP	0.60198115	5.65E-09	Unclassified	BrainSpLMD|11337	OMIM|605125
U1	GNAS	0.400293024	5.91E-09	G protein	BrainSpLMD|2778	SFARI||Autism, No category;OMIM|139320;COSMIC||pituitary adenoma, pancreatic intraductal papillary mucinous neoplasm, fibrous dysplasia, McCune-Albright syndrome, pseudohypoparathyroidism, type IA;HPO|2778|Abnormality of the musculature, Abnormality of the skin, Adult onset, Agitation, Anxiety, Autosomal dominant inheritance, Basal ganglia calcification, Blindness, Bone pain, Brachydactyly, Broad 1st metacarpal, Bruising susceptibility, Cardiomyopathy, Cataract, Choroid plexus calcification, Coarse facial features, Cognitive impairment, Constrictive median neuropathy, Craniofacial hyperostosis, Decreased circulating ACTH level, Delayed eruption of teeth, Depressed nasal bridge, Depressivity, Diabetes mellitus, Ectopic calcification, Ectopic ossification, Ectopic ossification in muscle tissue, Elevated circulating parathyroid hormone level, Facial asymmetry, Failure to thrive, Fatigue, Fibrous dysplasia of the bones, Full cheeks, Galactorrhea, Generalized hirsutism, Generalized hyperpigmentation, Growth delay, Growth hormone deficiency, Growth hormone excess, Hearing impairment, Hyperparathyroidism, Hyperphosphatemia, Hypertension, Hyperthyroidism, Hypocalcemia, Hypocalcemic tetany, Hypogonadism, Hypophosphatemia, Hypoplasia of dental enamel, Hypothyroidism, Increased bone mineral density, Increased circulating cortisol level, Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}, Infantile onset, Intellectual disability, Intestinal polyposis, Juvenile onset, Kyphosis, Large cafe-au-lait macules with irregular margins, Left ventricular hypertrophy, Limitation of joint mobility, Low urinary cyclic AMP response to PTH administration, Macronodular adrenal hyperplasia, Menometrorrhagia, Menstrual irregularities, Mental deterioration, Mood changes, Multiple cafe-au-lait spots, Muscle weakness, Neoplasm, Nephrolithiasis, Nystagmus, Obesity, Osteoma, Osteopenia, Osteoporosis, Pathologic fracture, Phenotypic variability, Pituitary adenoma, Pituitary growth hormone cell adenoma, Pituitary prolactin cell adenoma, Pituitary resistance to thyroid hormone, Polyostotic fibrous dysplasia, Polyphagia, Precocious puberty, Primary hypercorticolism, Progressive, Prolactin excess, Prolactinoma, Pseudohypoparathyroidism, Psychosis, Recurrent fractures, Reduced bone mineral density, Round face, Seizures, Short 4th metacarpal, Short 5th metacarpal, Short fifth metatarsal, Short finger, Short metacarpal, Short metatarsal, Short neck, Short stature, Short toe, Skeletal dysplasia, Skeletal muscle atrophy, Somatic mosaicism, Somatic mutation, Sporadic, Striae distensae, Subcutaneous nodule, Thickened calvaria, Thin skin, Truncal obesity, Variable expressivity
U1	SRPR	1.012553028	6.02E-09			
U1	SOCS5	1.739617409	6.02E-09	Unclassified	BrainSpLMD|9655	OMIM|607094
U1	DDIT3	0.715073335	6.04E-09	Transcription factor	BrainSpLMD|1649;Eurexp|euxassay_009824|olfactory;BrainSpMouseDev|12978	OMIM|126337;COSMIC||liposarcoma;HPO|1649|Myxoid liposarcoma, Somatic mutation, Subcutaneous nodule
U1	ALDH18A1	0.970647203	6.18E-09	Enzyme: Phosphotransferase;Enzyme: Ligase;Enzyme: Reductase	BrainSpLMD|5832;Eurexp|euxassay_007071|embryo	OMIM|138250;HPO|5832|Abnormal facial shape, Abnormal upper motor neuron morphology, Abnormality of pelvic girdle bone morphology, Adducted thumb, Athetosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Bowel diverticulosis, Brachycephaly, Brisk reflexes, Broad forehead, Carpal bone hypoplasia, Cataract, Congenital cataract, Congenital hip dislocation, Corneal arcus, Corneal opacity, Cutis laxa, Delayed cranial suture closure, Delayed skeletal maturation, Dysarthria, Dysfunction of lateral corticospinal tracts, Failure to thrive, Feeding difficulties, Frontal bossing, Full cheeks, Gait disturbance, Gastroesophageal reflux, Generalized amyotrophy, Generalized hypotonia, Genetic anticipation, Global developmental delay, Hernia, Hiatus hernia, Hip dislocation, Hyperextensible skin, Hyperreflexia, Hypertelorism, Hypotelorism, Inguinal hernia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Large fontanelles, Low-set ears, Lower limb muscle weakness, Lower limb spasticity, Macrotia, Microcephaly, Motor polyneuropathy, Myopia, Narrow mouth, Narrow nasal ridge, Pectus excavatum, Pes cavus, Premature skin wrinkling, Progressive, Prominent forehead, Prominent superficial blood vessels, Protruding ear, Redundant skin, Scoliosis, Seizures, Severe short stature, Short stature, Skeletal muscle atrophy, Slow progression, Sparse hair, Spastic paraplegia, Specific learning disability, Sporadic, Strabismus, Talipes equinovarus, Thin skin, Triangular face, Umbilical hernia, Urinary retention, Vomiting, Wide cranial sutures, Wormian bones
U1	CDK2	0.866568646	6.22E-09	Cell cycle control protein	BrainSpLMD|1017	OMIM|116953
U1	SDHD	0.941802769	6.36E-09	Enzyme: Dehydrogenase	BrainSpLMD|6392	OMIM|602690;COSMIC||paraganglioma, pheochromocytoma;HPO|6392|Abdominal pain, Abnormal mitochondria in muscle tissue, Abnormality of mitochondrial metabolism, Abnormality of the penis, Adenoma sebaceum, Adult onset, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Breast carcinoma, Cafe-au-lait spot, Cavernous hemangioma, Cerebral hemorrhage, Chemodectoma, Cognitive impairment, Colorectal polyposis, Conductive hearing impairment, Congenital cataract, Congestive heart failure, Conjunctival hamartoma, Cranial nerve paralysis, Decreased activity of mitochondrial complex II, Developmental regression, Dilated cardiomyopathy, Dysphagia, Dystonia, Elevated circulating catecholamine level, Elevated urinary norepinephrine, Episodic hypertension, Episodic paroxysmal anxiety, Exercise intolerance, Flexion contracture, Furrowed tongue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Generalized hyperkeratosis, Global developmental delay, Glomus jugular tumor, Glomus tympanicum paraganglioma, Goiter, Hamartomatous polyposis, Hearing impairment, Hemangioma, Hoarse voice, Hypercalcemia, Hyperhidrosis, Hyperreflexia, Hypertension associated with pheochromocytoma, Hypertensive retinopathy, Hypertrophic cardiomyopathy, Increased intramyocellular lipid droplets, Increased serum lactate, Infantile onset, Intellectual disability, Intestinal carcinoid, Intestinal obstruction, Left ventricular noncompaction, Leukoencephalopathy, Lipoma, Loss of voice, Macrocephaly, Macroglossia, Macule, Melanocytic nevus, Meningioma, Mucosal telangiectasiae, Muscle weakness, Myoclonus, Neonatal hypotonia, Neoplasm, Neoplasm of the gastrointestinal tract, Neoplasm of the thyroid gland, Nystagmus, Ophthalmoplegia, Optic atrophy, Palmoplantar keratoderma, Palpitations, Papilloma, Papule, Paraganglioma, Phenotypic variability, Pheochromocytoma, Pigmentary retinopathy, Positive regitine blocking test, Progressive leukoencephalopathy, Proteinuria, Ptosis, Pulsatile tinnitus, Ragged-red muscle fibers, Recurrent paroxysmal headache, Renal artery stenosis, Renal cell carcinoma, Seizures, Short stature, Spasticity, Stress/infection-induced lactic acidosis, Subcutaneous nodule, Tachycardia, Tinnitus, Uterine leiomyoma, Vagal paraganglioma, Visual impairment, Vocal cord paralysis, Weight loss
U1	SH3PXD2A	1.077358955	6.85E-09	Adapter molecule	BrainSpLMD|9644;Eurexp|euxassay_012261|clavicle, meninges, mesenchyme, skeletal muscle, ventricular layer	
U1	ARMCX2	1.381907828	6.99E-09	Unclassified	BrainSpLMD|9823	OMIM|300363
U1	UBE2A	1.096645701	7.14E-09	Ubiquitin proteasome system protein	BrainSpLMD|7319;Eurexp|euxassay_018835|hypothalamus, mantle layer	OMIM|312180;HPO|7319|Abnormal hair whorl, Aggressive behavior, Almond-shaped palpebral fissure, Broad face, Broad hallux, Broad neck, Deeply set eye, Depressed nasal bridge, Downturned corners of mouth, Dry skin, Echolalia, Hirsutism, Hypointensity of cerebral white matter on MRI, Increased body weight, Intellectual disability, Low posterior hairline, Macrocephaly, Malar flattening, Micropenis, Midface retrusion, Nail dysplasia, Nail dystrophy, Pes planus, Poor speech, Prominent supraorbital ridges, Regional abnormality of skin, Seizures, Short foot, Short neck, Synophrys, Thin vermilion border, Upslanted palpebral fissure, Wide intermamillary distance, Wide mouth, X-linked recessive inheritance
U1	SPCS1	0.521033181	7.49E-09	Unclassified	BrainSpLMD|28972;Eurexp|euxassay_008166|mandible, maxilla	OMIM|610358
U1	KLF10	1.109908651	8.07E-09	Transcription factor	BrainSpLMD|7071	OMIM|601878
U1	INSIG2	1.342816727	8.34E-09	Unclassified	BrainSpLMD|51141;Eurexp|euxassay_008853|corpus striatum, mandible, maxilla	OMIM|608660
U1	RPL9P7	0.379966644	8.54E-09			
U1	TMEM98	0.910151283	8.97E-09	Integral membrane protein	BrainSpLMD|26022	OMIM|615949;HPO|26022|Abnormality of the choroid, Autosomal dominant inheritance, Glaucoma, High-grade hypermetropia, Microphthalmia, Strabismus
U1	ETV3	0.562822094	9.16E-09	Transcription factor	BrainSpLMD|2117;BrainSpMouseDev|26794	OMIM|164873
U1	SON	0.351452033	9.24E-09	Transcription factor	BrainSpLMD|6651;Eurexp|euxassay_007178|adrenal gland, cervical, cervico-thoracic, dorsal root ganglion, floorplate, glossopharyngeal IX, heart, mantle layer, medulla oblongata, metencephalon, oesophagus, olfactory lobe, thoracic, trigeminal V, vagus X, ventricular layer	OMIM|182465;HPO|6651|Abnormality of the dentition, Abnormality of the ribs, Arachnoid cyst, Autosomal dominant inheritance, Cerebellar hypoplasia, Cleft palate, Cortical visual impairment, Craniosynostosis, Deeply set eye, Depressed nasal bridge, Developmental regression, Downslanted palpebral fissures, Facial asymmetry, Failure to thrive, Feeding difficulties, Flexion contracture, Frontal bossing, Generalized hypotonia, Global developmental delay, Hemivertebrae, High palate, Horseshoe kidney, Hypermetropia, Hypoplasia of the corpus callosum, Intellectual disability, Joint hypermobility, Kyphosis, Low-set ears, Narrow mouth, Optic atrophy, Scoliosis, Short foot, Short philtrum, Short stature, Small hand, Strabismus, Thin upper lip vermilion, Ventriculomegaly, Wide nasal bridge
U1	SOX6	0.295334805	9.26E-09	Transcription factor	BrainSpLMD|55553;BrainSpMouseDev|20441	OMIM|607257
U1	CNPY2	0.373140359	9.54E-09	Integral membrane protein	BrainSpLMD|10330	OMIM|605861
U1	GFPT1	0.651147933	9.73E-09	Enzyme: Aminotransferase	BrainSpLMD|2673	OMIM|138292;HPO|2673|Abnormality of the immune system, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Decreased fetal movement, Decreased muscle mass, Decreased size of nerve terminals, Dental malocclusion, Dysarthria, Dysphagia, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, Easy fatigability, Facial palsy, Fatigable weakness, Feeding difficulties, Generalized hypotonia, Gowers sign, High palate, Infantile onset, Juvenile onset, Long face, Mandibular prognathia, Mildly elevated creatine phosphokinase, Motor delay, Muscle cramps, Muscular hypotonia, Neck muscle weakness, Nonprogressive, Ophthalmoparesis, Proximal amyotrophy, Ptosis, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Strabismus, Type 2 muscle fiber atrophy, Variable expressivity, Waddling gait, Weak cry
U1	AP3S1	0.36136568	9.84E-09	Adapter molecule	BrainSpLMD|1176	OMIM|601507
U1	HIATL1	0.390705169	1.01E-08			
U1	C1orf85	1.582990255	1.03E-08			
U1	TBC1D23	0.660079924	1.06E-08	Unclassified	BrainSpLMD|55773	OMIM|617687
U1	SCFD1	0.639584777	1.07E-08	Membrane transport protein	BrainSpLMD|23256;Eurexp|euxassay_014266|vertebral axis muscle system	
U1	CACNA1C	0.344272537	1.15E-08	Voltage gated channel	BrainSpLMD|775	SFARI||Autism, No category;OMIM|114205;HPO|775|Atrial fibrillation, Autosomal dominant inheritance, Cutaneous syndactyly, Depressed nasal bridge, Global developmental delay, J wave, Microdontia, Prolonged QT interval, Recurrent infections, Round face, Shortened QT interval, Sudden cardiac death, Sudden death, Syncope, Thin upper lip vermilion, Ventricular arrhythmia
U1	TMEM14C	0.359977932	1.15E-08	Integral membrane protein	BrainSpLMD|51522;Eurexp|euxassay_000161|basal plate, biceps, brachialis, cerebral cortex, deltoid, dorsal root ganglion, erector spinae, external oblique, facial VII, floorplate, genioglossus, glossopharyngeal IX, gluteus maximus, hamstring, hyoglossus, ilio-psoas, infraspinatus, inner ear, intrinsic, labyrinth, lateral wall, latissimus dorsi, mantle layer, marginal layer, masseter, midbrain, middle ear, myelohyoid, naso-lacrimal duct, neural retina, otic capsule, palatoglossus, pectoralis major, pectoralis minor, quadratus lumborum, quadriceps, rectus abdominis, retina, roof plate, serratus anterior, skeletal muscle, spinal cord, styloglossus, sublingual gland primordium, submandibular gland primordium, subscapularis, supraspinatus, tegmentum, telencephalon, teres major, thymus primordium, transverse component, transversus abdominis, trapezius, triceps, trigeminal V, vagus X, ventricular layer, vertical component, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|615318
U1	DNM3OS	0.265916416	1.15E-08			
U1	BCAS2	0.252298361	1.16E-08	Cell cycle control protein	Eurexp|euxassay_001997|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, submandibular gland primordium, trigeminal V	OMIM|605783
U1	ZC3HAV1	1.261339732	1.17E-08	-	BrainSpLMD|56829;Eurexp|euxassay_012472|lobe, thymus primordium	OMIM|607312
U1	NMD3	0.753854197	1.17E-08	Unclassified	BrainSpLMD|51068	OMIM|611021
U1	HEXIM1	0.575621267	1.24E-08	Transcription factor	BrainSpLMD|10614	OMIM|607328
U1	RNH1	1.469820991	1.25E-08	Translation regulatory protein	BrainSpLMD|6050;Eurexp|euxassay_004536|bladder, pancreas	OMIM|173320
U1	ALDH1L2	0.608309792	1.26E-08	Enzyme: Dehydrogenase		OMIM|613584
U1	ILK	0.797027004	1.47E-08	Serine/threonine kinase	BrainSpLMD|3611	OMIM|602366
U1	SNTB2	1.105283797	1.64E-08	Adapter molecule	BrainSpLMD|6645	OMIM|600027
U1	PTPRG	0.678279653	1.65E-08	Receptor tyrosine phosphatase	BrainSpLMD|5793	OMIM|176886
U1	RNU4ATAC	1.293832311	1.66E-08			OMIM|601428;HPO|100151683|11 pairs of ribs, Abnormal form of the vertebral bodies, Abnormal vertebral ossification, Abnormality of calcium-phosphate metabolism, Abnormality of the intervertebral disk, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the pinna, Abnormality of the pubic bone, Abnormality of the tragus, Absence seizures, Absent knee epiphyses, Agenesis of cerebellar vermis, Agenesis of corpus callosum, Alopecia, Aplasia/hypoplasia of the femur, Aplastic clavicles, Atrial septal defect, Autosomal recessive inheritance, Biconvex vertebral bodies, Bifid femur, Bifid uvula, Bilateral single transverse palmar creases, Bowed humerus, Brachydactyly, Broad distal phalanx of finger, Bulbous nose, Cleft vertebral arch, Clinodactyly of the 5th finger, Coarctation of aorta, Cryptorchidism, Delayed skeletal maturation, Disproportionate short stature, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Dry skin, Dyspnea, Elbow dislocation, Elbow flexion contracture, Enlarged metaphyses, Eosinophilia, Epileptic spasms, Failure to thrive, Femoral bowing, Generalized hypotonia, Glaucoma, Global developmental delay, Hepatomegaly, Heterotopia, Hip contracture, Hip dislocation, Hydronephrosis, Hydroureter, Hyperkeratosis, Hypoplasia of the frontal lobes, Hypoplastic ilia, Hypotrichosis, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Irregular femoral epiphysis, Irregular vertebral endplates, Knee flexion contracture, Large hands, Large iliac wings, Long clavicles, Long foot, Long nose, Long palpebral fissure, Loss of eyelashes, Low-set ears, Lymphadenopathy, Malar flattening, Microcephaly, Micrognathia, Micromelia, Micropenis, Microtia, Muscle stiffness, Oligohydramnios, Osteomalacia, Osteopenia, Osteoporosis, Pachygyria, Platyspondyly, Posteriorly rotated ears, Premature birth, Prolonged neonatal jaundice, Prominent nose, Prominent occiput, Proptosis, Recurrent otitis media, Recurrent pneumonia, Renal cyst, Renal hypoplasia, Respiratory failure, Retrognathia, Rickets, Rigidity, Seizures, Severe short stature, Short femur, Short humerus, Short metacarpal, Short neck, Short palm, Short stature, Short toe, Shoulder flexion contracture, Single transverse palmar crease, Sloping forehead, Small anterior fontanelle, Sparse and thin eyebrow, Sparse eyelashes, Sparse scalp hair, Spasticity, Specific learning disability, Splenomegaly, Spondyloepiphyseal dysplasia, Status epilepticus, Stillbirth, Submucous cleft hard palate, Tetralogy of Fallot, Thick vermilion border, Thickened nuchal skin fold, Thin eyebrow, Underdeveloped nasal alae
U1	FBXL7	0.705126877	1.68E-08	Ubiquitin proteasome system protein	BrainSpLMD|23194	OMIM|605656
U1	YTHDF3	0.563292623	1.69E-08	Unclassified	BrainSpLMD|253943	
U1	TENC1	1.777364368	1.70E-08			
U1	SIL1	1.808851957	1.76E-08	Chaperone	BrainSpLMD|64374;Eurexp|euxassay_015237|chondrocranium, pancreas, testis, ventricular layer	OMIM|608005;HPO|64374|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Abnormality of finger, Abnormality of the cerebellar vermis, Abnormality of the metacarpal bones, Aplasia/Hypoplasia involving the skeletal musculature, Ataxia, Autosomal recessive inheritance, Avascular necrosis of the capital femoral epiphysis, Brachydactyly, Cataract, Centrally nucleated skeletal muscle fibers, Cerebellar cortical atrophy, Cerebellar hypoplasia, Congenital cataract, Coxa valga, Cubitus valgus, Dysarthria, Dyskinesia, Dysphonia, Elevated serum creatine phosphokinase, External genital hypoplasia, Failure to thrive, Flexion contracture, Gait ataxia, Generalized hypotonia, Global developmental delay, Hip dislocation, Hip dysplasia, Hypergonadotropic hypogonadism, Hypogonadism, Infantile onset, Intellectual disability, Kyphosis, Limb ataxia, Metatarsus valgus, Microcephaly, Muscle flaccidity, Muscle stiffness, Muscular dystrophy, Muscular hypotonia, Myopathy, Nystagmus, Pectus carinatum, Pes planus, Progressive muscle weakness, Rigidity, Scoliosis, Severe short stature, Short metacarpal, Short metatarsal, Short palm, Short stature, Skeletal muscle atrophy, Spasticity, Specific learning disability, Strabismus
U1	NXT1	1.246712802	1.76E-08	Transport/cargo protein	BrainSpLMD|29107;Eurexp|euxassay_001534|cortex, dorsal root ganglion, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|605811
U1	LINC00854	1.251715648	1.82E-08			
U1	DIS3	0.667002455	1.84E-08	RNA binding protein	BrainSpLMD|22894;Eurexp|euxassay_001502|cortex, thymus primordium, ventricular layer	OMIM|607533
U1	TCTN3	0.926739521	1.87E-08	Integral membrane protein	BrainSpLMD|26123;Eurexp|euxassay_011590|choroid invagination, choroid plexus, olfactory, roof plate	OMIM|613847;HPO|26123|Abnormality of eye movement, Abnormality of oral frenula, Abnormality of the gingiva, Abnormality of the tongue, Absent testis, Accessory oral frenulum, Aplasia/Hypoplasia of the tibia, Autosomal recessive inheritance, Bifid uvula, Brachydactyly, Camptodactyly, Camptodactyly of finger, Cerebral atrophy, Cerebral cortical hemiatrophy, Choanal atresia, Cleft palate, Clinodactyly, Conductive hearing impairment, Decreased testicular size, Depressed nasal ridge, Epicanthus, Failure to thrive, Feeding difficulties, Finger syndactyly, Foot polydactyly, Genu varum, Global developmental delay, Hamartoma, Hamartoma of tongue, Hand polydactyly, High palate, High, narrow palate, Horseshoe kidney, Hypertelorism, Intellectual disability, Intrauterine growth retardation, Joint dislocation, Joint laxity, Kyphoscoliosis, Laryngomalacia, Lobulated tongue, Low-set ears, Median cleft lip, Microcephaly, Micrognathia, Micromelia, Microtia, third degree, Molar tooth sign on MRI, Monorchism, Oligohydramnios, Oral synechia, Pectus excavatum, Phenotypic variability, Polydactyly, Porencephalic cyst, Postaxial hand polydactyly, Posteriorly rotated ears, Preaxial hand polydactyly, Proptosis, Recurrent respiratory infections, Retrognathia, Severe short stature, Short finger, Short nose, Short stature, Short tibia, Specific learning disability, Split hand, Subcortical cerebral atrophy, Submucous cleft hard palate, Toe syndactyly, Tongue nodules, Ventricular septal defect, Wide nose
U1	TWF1	0.999823864	1.89E-08	Tyrosine kinase	BrainSpLMD|5756;Eurexp|euxassay_018637|olfactory	OMIM|610932
U1	CTNNA1	0.621112505	1.91E-08	Cytoskeletal protein	BrainSpLMD|1495;Eurexp|euxassay_018188|embryo	OMIM|116805;HPO|1495|Autosomal dominant inheritance
U1	TGFBR1	0.603741922	1.92E-08	Receptor serine/threonine kinase	BrainSpLMD|7046;Eurexp|euxassay_018304|olfactory, vomeronasal organ;BrainSpMouseDev|21571	OMIM|190181;HPO|7046|Abnormality of the iris, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Arachnodactyly, Arterial dissection, Arterial tortuosity, Ascending aortic dissection, Atypical scarring of skin, Bifid uvula, Blue sclerae, Camptodactyly of finger, Cardiomegaly, Chest pain, Coronary artery disease, Craniosynostosis, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Exertional dyspnea, High palate, Hypertelorism, Hypertension, Left ventricular failure, Malar flattening, Micrognathia, Oral cleft, Paroxysmal dyspnea, Patent ductus arteriosus, Pes planus, Scoliosis, Striae distensae, Tall stature, Uterine rupture
U1	IFT20	0.625777759	1.99E-08	Unclassified	BrainSpLMD|90410	OMIM|614394
U1	LRRC59	1.20844945	2.02E-08	Unclassified	BrainSpLMD|55379	OMIM|614854
U1	HELB	1.126721254	2.03E-08	DNA helicase	BrainSpLMD|92797	OMIM|614539
U1	KLF6	0.516059683	2.06E-08	Transcription factor	BrainSpLMD|1316;Eurexp|euxassay_018886|mantle layer, marginal layer;BrainSpMouseDev|23602	OMIM|602053;COSMIC||prostate, glioma;HPO|1316|Autosomal dominant inheritance, Prostate cancer, Somatic mutation, Stomach cancer
U1	YIF1B	0.553049059	2.08E-08	Integral membrane protein	BrainSpLMD|90522	
U1	RER1	1.073991504	2.10E-08	Integral membrane protein	BrainSpLMD|11079	
U1	CSRP2	0.34643072	2.11E-08	Adapter molecule	BrainSpLMD|1466;Eurexp|euxassay_016538|aorta, bladder, dorsal grey horn, hindgut, intermediate grey horn, mantle layer, midgut, neural retina, orbito-sphenoid, pancreas, skeletal muscle, stomach, temporal bone, turbinate, vault of skull	OMIM|601871
U1	SNHG16	0.940936138	2.13E-08			
U1	ENO1	0.37212193	2.14E-08	Enzyme: Hydratase	BrainSpLMD|2023	OMIM|172430
U1	TBC1D15	0.907766719	2.19E-08	GTPase activating protein	BrainSpLMD|64786	OMIM|612662
U1	EIF3FP3	0.861331943	2.40E-08			
U1	SPAG7	0.794828559	2.44E-08	Unclassified	BrainSpLMD|9552	OMIM|610056
U1	CCDC47	0.618223535	2.51E-08	Unclassified	BrainSpLMD|57003;Eurexp|euxassay_000833|submandibular gland primordium	
U1	SGCE	0.908310964	2.51E-08	Extracellular matrix protein	BrainSpLMD|8910	OMIM|604149;HPO|8910|Agoraphobia, Anxiety, Autosomal dominant inheritance, Depressivity, Incomplete penetrance, Juvenile onset, Myoclonus, Obsessive-compulsive behavior, Torticollis, Tremor, Writer's cramp
U1	CH17.449C21.1	0.272705788	2.58E-08			
U1	TRO	0.936336063	2.61E-08	Integral membrane protein	BrainSpLMD|7216	OMIM|300132
U1	ZNF460	0.31480647	2.66E-08	Transcription factor	BrainSpLMD|10794	OMIM|604755
U1	ANAPC16	0.273246537	2.80E-08	Unclassified	BrainSpLMD|119504	OMIM|613427
U1	DOCK1	1.216901099	2.81E-08	Guanine nucleotide exchange factor	BrainSpLMD|1793	SFARI||Autism, 4 - Minimal evidence;OMIM|601403
U1	WWTR1	0.666098912	2.85E-08	Transcription regulatory protein	BrainSpLMD|25937;Eurexp|euxassay_000592|limb, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|61234	OMIM|607392;COSMIC||epithelioid haemangioendothelioma
U1	NPC2	0.385771774	3.05E-08	Transport/cargo protein	BrainSpLMD|10577;Eurexp|euxassay_001964|cervical, cervico-thoracic, left lung, mantle layer, marginal layer, right lung, stomach, thoracic, trachea, ventral grey horn, ventricular layer	OMIM|601015;HPO|10577|Abnormal cholesterol homeostasis, Ataxia, Autosomal recessive inheritance, Bone-marrow foam cells, Cataplexy, Dementia, Dysarthria, Dysphagia, Dystonia, Fetal ascites, Foam cells in visceral organs and CNS, Generalized hypotonia, Global developmental delay, Hepatomegaly, Heterogeneous, Intellectual disability, Loss of speech, Low cholesterol esterification rates, Neurofibrillary tangles, Onset, Perseveration, Prolonged neonatal jaundice, Psychosis, Respiratory failure, Sea-blue histiocytosis, Seizures, Spasticity, Splenomegaly, Stereotypy, Vertical supranuclear gaze palsy
U1	PRDX3	0.320410578	3.08E-08	Enzyme: Peroxidase	BrainSpLMD|10935;Eurexp|euxassay_006583|adrenal gland, liver, ovary, thymus primordium, thyroid	OMIM|604769
U1	GLG1	0.497999186	3.36E-08	Integral membrane protein	BrainSpLMD|2734	OMIM|600753
U1	PDXK	0.469635452	3.43E-08	Enzyme: Phosphotransferase	BrainSpLMD|8566;Eurexp|euxassay_018332|clavicle, cortex, hindgut, incisor, lobe, lung, mandible, maxilla, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, rectum, submandibular gland primordium, thymus primordium, thyroid, urethra, ventricular layer, vibrissa, vomeronasal organ	OMIM|179020
U1	DDX3X	0.485335077	3.45E-08	RNA helicase	BrainSpLMD|1654	SFARI||Autism, 2 - Strong candidate;OMIM|300160;COSMIC||CLL, medulloblastoma, Mental retardation, X-linked 102;HPO|1654|Generalized hypotonia, Infantile onset, Intellectual disability, X-linked dominant inheritance, X-linked recessive inheritance
U1	UGP2	0.516919703	3.77E-08	Enzyme: Nucleotidyltransferase	BrainSpLMD|7360;Eurexp|euxassay_006932|calyces, cortex, stomach	OMIM|191760
U1	MAN2A1	0.949341402	3.79E-08	Enzyme: Glycosidase	BrainSpLMD|4124	OMIM|154582
U1	NDUFA11	0.294457073	3.85E-08	Enzyme: Oxidoreductase	BrainSpLMD|126328	OMIM|612638;HPO|126328|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
U1	EIF4A3	0.58546083	4.04E-08	Unclassified	BrainSpLMD|9775;Eurexp|euxassay_003305|submandibular gland primordium, testis, vibrissa	OMIM|608546;HPO|9775|Abnormality of the aryepiglottic fold, Abnormality of the voice, Agenesis of mandibular central incisor, Aplasia of the epiglottis, Autosomal recessive inheritance, Bifid uvula, Cleft lower alveolar ridge, Cleft mandible, Clinodactyly of the 5th finger, Feeding difficulties, Global developmental delay, High palate, Hypoplasia of the radius, Low-set ears, Microretrognathia, Narrow mouth, Pierre-Robin sequence, Prominent nose, Protruding ear, Proximal placement of thumb, Radial deviation of the hand, Short metacarpal, Short phalanx of finger, Short stature, Short thumb, Talipes equinovarus, Tibial deviation of toes
U1	HDAC9	0.649143598	4.13E-08	Transcription regulatory protein	BrainSpLMD|9734	OMIM|606543
U1	QARS	0.701034769	4.16E-08	Enzyme: Ligase	BrainSpLMD|5859	OMIM|603727;HPO|5859|Autosomal recessive inheritance, CNS hypomyelination, Cerebellar vermis atrophy, Cerebral atrophy, Epicanthus, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Hypotelorism, Low-set ears, Narrow forehead, Posteriorly rotated ears, Progressive, Progressive microcephaly, Sloping forehead, Status epilepticus, Ventriculomegaly
U1	SSR3	0.77521365	4.30E-08	Membrane transport protein	BrainSpLMD|6747	OMIM|606213
U1	HNMT	1.518891359	4.51E-08	Enzyme: Methyltransferase	BrainSpLMD|3176	OMIM|605238;HPO|3176|Autosomal recessive inheritance, Delayed speech and language development, Global developmental delay, Infantile onset, Intellectual disability, Intellectual disability, severe, Microcephaly
U1	FLNA	0.522238404	4.52E-08	Anchor protein;Structural protein	BrainSpLMD|2316	OMIM|300017;COSMIC||phyllodes tumour of the breast;HPO|2316|Abdominal distention, Abnormal bleeding, Abnormal facial shape, Abnormal foot bone ossification, Abnormal form of the vertebral bodies, Abnormal hand bone ossification, Abnormal vertebral segmentation and fusion, Abnormality of dental morphology, Abnormality of metabolism/homeostasis, Abnormality of neuronal migration, Abnormality of oral frenula, Abnormality of skin pigmentation, Abnormality of the cardiac septa, Abnormality of the coagulation cascade, Abnormality of the fifth metatarsal bone, Abnormality of the heart valves, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the pinna, Abnormality of the ribs, Absent frontal sinuses, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Accessory carpal bones, Ankle contracture, Anodontia, Antegonial notching of mandible, Anterior concavity of thoracic vertebrae, Anteriorly placed odontoid process, Aortic regurgitation, Arachnodactyly, Bicuspid aortic valve, Bipartite calcaneus, Bowing of the long bones, Brachydactyly, Broad distal phalanx of the thumb, Broad face, Broad forehead, Broad hallux, Broad phalanges of the hand, Broad thumb, Bulbous tips of toes, Camptodactyly of finger, Camptodactyly of toe, Capitate-hamate fusion, Cerebellar hypoplasia, Cleft palate, Coarse facial features, Coarse hair, Coat hanger sign of ribs, Cognitive impairment, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Congenital hip dislocation, Congestive heart failure, Constipation, Cor pulmonale, Coxa valga, Craniofacial hyperostosis, Cryptorchidism, Delayed closure of the anterior fontanelle, Delayed cranial suture closure, Delayed eruption of teeth, Delayed speech and language development, Dental malocclusion, Depressed nasal bridge, Dislocated radial head, Downslanted palpebral fissures, Elbow dislocation, Elbow flexion contracture, Failure to thrive, Feeding difficulties in infancy, Femoral bowing, Fibroma, Fibular aplasia, Flared iliac wings, Flared metaphysis, Flat face, Focal seizures, Frontal bossing, Frontal hirsutism, Fused cervical vertebrae, Gait disturbance, Gastroesophageal reflux, Genu valgum, Global developmental delay, Glossoptosis, Hearing impairment, Hernia, Heterotopia, High palate, Hip dislocation, Hirsutism, Hoarse voice, Hydrocephalus, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplasia of the musculature, Hypoplastic frontal sinuses, Hypoplastic ilia, Hypoplastic scapulae, Hypospadias, Hypotrichosis, Increased bone mineral density, Increased density of long bone diaphyses, Increased mean platelet volume, Increased size of the mandible, Infantile onset, Intellectual disability, Intellectual disability, mild, Intestinal hypoplasia, Intestinal malrotation, Intestinal pseudo-obstruction, Iris coloboma, Irregular metacarpals, Joint hypermobility, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Large fontanelles, Large foramen magnum, Large forehead, Lateral femoral bowing, Limitation of joint mobility, Limited elbow extension, Limited knee flexion, Lipoatrophy, Localized skin lesion, Long fingers, Long foot, Long metacarpals, Long neck, Long phalanx of finger, Low-set ears, Macrotia, Malar flattening, Micrognathia, Midface retrusion, Misalignment of teeth, Mitral regurgitation, Mitral valve prolapse, Motor delay, Multiple impacted teeth, Multiple joint contractures, Nail dysplasia, Nail dystrophy, Narrow chest, Narrow mouth, Neonatal hypotonia, Nonossified fifth metatarsal, Obtuse angle of mandible, Oligodontia, Omphalocele, Osteolytic defects of the phalanges of the hand, Overlapping fingers, Partial fusion of carpals, Partial fusion of tarsals, Patent ductus arteriosus, Pectus excavatum, Periventricular gray matter heterotopia, Persistence of primary teeth, Pes planus, Pierre-Robin sequence, Platyspondyly, Pointed chin, Postaxial hand polydactyly, Posterior vertebral hypoplasia, Posteriorly rotated ears, Postnatal growth retardation, Prominent forehead, Prominent occiput, Prominent supraorbital ridges, Proptosis, Proximal placement of thumb, Ptosis, Pulmonary arterial hypertension, Pulmonary hypoplasia, Pyloric stenosis, Radial bowing, Radial deviation of the 2nd finger, Recurrent otitis media, Recurrent respiratory infections, Reduced number of teeth, Respiratory failure, Rocker bottom foot, Rudimentary fibula, Sandal gap, Scapular winging, Sclerosis of skull base, Scoliosis, Seizures, Selective tooth agenesis, Sensorineural hearing impairment, Short 3rd metacarpal, Short 4th metacarpal, Short 5th metacarpal, Short chin, Short chordae tendineae of the mitral valve, Short chordae tendineae of the tricuspid valve, Short clavicles, Short distal phalanx of finger, Short distal phalanx of hallux, Short distal phalanx of the thumb, Short hallux, Short humerus, Short metacarpal, Short metatarsal, Short nose, Short palm, Short ribs, Short stature, Short thumb, Short toe, Skeletal dysplasia, Skeletal muscle atrophy, Small face, Smooth philtrum, Spondylolysis, Stillbirth, Strabismus, Stridor, Stroke, Synostosis of carpal bones, Talipes equinovarus, Thick skull base, Thickened calvaria, Thin skin, Thrombocytopenia, Tibial bowing, Toe clinodactyly, Toe syndactyly, Tricuspid regurgitation, Tricuspid valve prolapse, Ulnar bowing, Ulnar deviation of finger, Underdeveloped superior crus of antihelix, Undulate clavicles, Ureteral obstruction, Ureteral stenosis, Vertical clivus, Vomiting, Wide anterior fontanel, Wide nasal bridge, Wormian bones, Wrist flexion contracture, X-linked dominant inheritance, X-linked inheritance, X-linked recessive inheritance
U1	AC010468.1	0.28308894	4.53E-08			
U1	CTGF	0.8904578	4.64E-08	Extracellular matrix protein	BrainSpLMD|1490;Eurexp|euxassay_004838|alimentary system, aorta, arch of aorta, axial skeleton, basioccipital bone, basisphenoid bone, bladder, cardiac muscle, carotid artery, cartilage, clavicle, cortex, cricoid, descending, dorsal aorta, exoccipital bone, fibula, humerus, incisor, laryngeal, larynx, lung, meninges, mesenchyme, metanephros, metatarsus, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, palatal shelf, pelvic girdle, petrous part, phalanx, pharyngo-tympanic tube, pulmonary artery, pulmonary trunk, respiratory tract, rib, scapula, skeletal muscle, skeleton, sternum, stomach, temporal bone, thoracic aorta, thyroid, tibia, trachea, tubo-tympanic recess, turbinate bones, umbilical artery, vault of skull, ventricle, ventricular layer, vomeronasal organ;BrainSpMouseDev|13996	OMIM|121009;HPO|1490|Arthralgia, Arthritis, Autoimmunity, Carious teeth, Dyspareunia, Dysphagia, Dyspnea, Flexion contracture, Gastroesophageal reflux, Hypopigmented skin patches, Malabsorption, Mucosal telangiectasiae, Muscle weakness, Narrow foramen obturatorium, Nausea and vomiting, Oliguria, Osteolysis, Pulmonary fibrosis, Pulmonary infiltrates, Skin ulcer, Telangiectasia of the skin, Xerostomia
U1	GPC6	0.529884949	5.10E-08	Growth factor	BrainSpLMD|10082	SFARI||Autism, 4 - Minimal evidence;OMIM|604404;HPO|10082|Anterolateral radial head dislocation, Atrial septal defect, Autosomal recessive inheritance, Axillary pterygia, Blepharophimosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Fibular hypoplasia, Flat face, Frontal bossing, Hemangioma, Hypoplastic distal humeri, Increased fibular diameter, Limited elbow extension, Limited elbow flexion, Limited elbow flexion/extension, Limited hip movement, Limited knee extension, Limited knee flexion, Limited knee flexion/extension, Long philtrum, Malar flattening, Micrognathia, Popliteal pterygium, Pulmonary artery stenosis, Rhizomelia, Short humerus, Short neck, Short nose, Short tibia, Umbilical hernia, Ventricular septal defect, Wide nasal bridge
U1	RPS2P46	0.310734365	5.27E-08			
U1	TBL1X	1.044909967	5.29E-08	Cell cycle control protein	BrainSpLMD|6907	SFARI||Autism, 4 - Minimal evidence;OMIM|300196
U1	OSTF1	0.950324836	5.30E-08	Adapter molecule	BrainSpLMD|26578;BrainSpMouseDev|20172	OMIM|610180
U1	PARD3	1.304692859	5.69E-08	Adapter molecule	BrainSpLMD|56288;BrainSpMouseDev|60394	OMIM|606745
U1	LIPA	0.943908645	6.26E-08	Enzyme: Lipase	BrainSpLMD|3988	OMIM|613497;HPO|3988|Abdominal distention, Adrenal calcification, Anemia, Arteriosclerosis, Ascites, Autosomal recessive inheritance, Bone-marrow foam cells, Cachexia, Cirrhosis, Death in infancy, Diarrhea, Esophageal varix, Failure to thrive, Global developmental delay, Growth delay, Hepatic failure, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Malnutrition, Nausea and vomiting, Protuberant abdomen, Pulmonary arterial hypertension, Splenomegaly, Steatorrhea, Vacuolated lymphocytes, Vomiting
U1	KIAA0247	0.445960963	6.56E-08			
U1	KIRREL	1.348307111	6.62E-08			
U1	ERLEC1	1.039451307	6.70E-08	Unclassified	BrainSpLMD|27248;Eurexp|euxassay_004847|mandible, maxilla, orbito-sphenoid, rib	OMIM|611229
U1	C1D	0.790486192	6.70E-08	Transcription regulatory protein		OMIM|606997
U1	CDV3	0.30410384	6.70E-08	Unclassified	BrainSpLMD|55573	
U1	MORC4	1.588303641	6.80E-08	Unclassified	BrainSpLMD|79710	OMIM|300970
U1	EDIL3	1.384484849	7.01E-08	Extracellular matrix protein	BrainSpLMD|10085	OMIM|606018
U1	IARS	0.785483137	7.76E-08	Enzyme: Ligase	BrainSpLMD|3376;Eurexp|euxassay_001939|Meckel's cartilage, cervical, cervico-thoracic, cortex, dorsal root ganglion, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	OMIM|600709;HPO|3376|Autosomal recessive inheritance, Congenital onset, Failure to thrive, Generalized hypotonia, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Microcephaly, Postnatal growth retardation, Variable expressivity
U1	RNF217	1.021450487	7.93E-08	Integral membrane protein	BrainSpLMD|154214;Eurexp|euxassay_010804|adrenal gland, mantle layer, vertebral axis muscle system	
U1	ADAM9	1.331785032	8.10E-08	Metallo protease	BrainSpLMD|8754	OMIM|602713;HPO|8754|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal recessive inheritance, Cone/cone-rod dystrophy, Nyctalopia, Photophobia, Visual impairment
U1	MSN	0.515611014	8.25E-08	Cytoskeletal protein	BrainSpLMD|4478;Eurexp|euxassay_009365|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, organ system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	SFARI||Autism, 5 - Hypothesized but untested;OMIM|309845;COSMIC||ALCL;HPO|4478|Decreased antibody level in blood, Eczema, Lymphopenia, Recurrent respiratory infections, Recurrent urinary tract infections, X-linked recessive inheritance
U1	MORF4	0.421140461	8.37E-08	Transcription factor		OMIM|116960
U1	TFG	0.54530825	8.41E-08	Enzyme regulator	BrainSpLMD|10342	OMIM|602498;COSMIC||papillary thyroid, ALCL, NSCLC, extraskeletal myxoid chondrosarcoma;HPO|10342|Abnormal myelination, Abnormality of peripheral nerve conduction, Abnormality of the Achilles tendon, Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Difficulty climbing stairs, Difficulty standing, Distal lower limb amyotrophy, Distal sensory impairment, Fasciculations, Gait disturbance, Gliosis, Hyperlipidemia, Hyperreflexia, Inability to walk, Mildly elevated creatine phosphokinase, Motor polyneuropathy, Optic atrophy, Peripheral neuropathy, Proximal amyotrophy, Proximal muscle weakness, Sensorimotor neuropathy, Sensory neuropathy, Slow progression, Spastic paraplegia, Tetraplegia, Visual loss
U1	ZNF410	1.411238548	8.41E-08	Transcription factor	BrainSpLMD|57862	
U1	GAS5	0.510861285	8.70E-08			OMIM|608280
U1	NCL	0.268818672	8.82E-08	RNA binding protein	BrainSpLMD|4691;Eurexp|euxassay_007121|embryo	OMIM|164035
U1	FOXK1	0.438336972	8.93E-08	Transcription factor	Eurexp|euxassay_010907|floor plate, floorplate, mantle layer;BrainSpMouseDev|17193	OMIM|616302
U1	DKK3	0.694609623	9.05E-08	Ligand	BrainSpLMD|27122;Eurexp|euxassay_018106|aorta, axial skeleton, femur, humerus, mesenchyme, neural retina, rib, ventricular layer;BrainSpMouseDev|30269	OMIM|605416
U1	SDHDP6	1.25359022	9.32E-08			
U1	BAG3	0.542091489	9.51E-08	Adapter molecule	BrainSpLMD|9531	OMIM|603883;HPO|9531|Autosomal dominant inheritance, Axonal loss, Congestive heart failure, Demyelinating peripheral neuropathy, Diaphragmatic paralysis, Dilated cardiomyopathy, Distal sensory impairment, EMG: myopathic abnormalities, Easy fatigability, Elevated serum creatine phosphokinase, Facial palsy, Generalized amyotrophy, Hypertrophic cardiomyopathy, Hyporeflexia, Knee flexion contracture, Muscular dystrophy, Myofibrillar myopathy, Nasal speech, Pes cavus, Rapidly progressive, Respiratory insufficiency, Scoliosis, Spinal rigidity
U1	TAF1D	0.595824956	1.11E-07	Unclassified	BrainSpLMD|79101	OMIM|612823
U1	RPS3AP26	0.254563114	1.13E-07			
U1	LPIN2	0.762521833	1.22E-07	Unclassified	BrainSpLMD|9663	OMIM|605519;HPO|9663|Abnormality of bone marrow cell morphology, Acne, Arthralgia, Autosomal recessive inheritance, Bone pain, Cachexia, Chronic recurrent multifocal osteomyelitis, Congenital hypoplastic anemia, Edema, Failure to thrive, Fever, Flexion contracture, Growth delay, Headache, Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Inflammatory abnormality of the skin, Leukocytosis, Metaphyseal irregularity, Myalgia, Osteomyelitis, Papule, Pustule, Splenomegaly, Synovitis
U1	COQ10B	1.225391103	1.30E-07	Unclassified	BrainSpLMD|80219	
U1	CHMP2B	0.591690846	1.35E-07	Transport/cargo protein	BrainSpLMD|25978;Eurexp|euxassay_017077|dorsal grey horn, intermediate grey horn, mantle layer, ventral grey horn, ventricular layer, vibrissa	OMIM|609512;HPO|25978|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Adult onset, Aggressive behavior, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apathy, Apraxia, Areflexia, Astrocytosis, Autosomal dominant inheritance, Babinski sign, Bulbar signs, Cerebral cortical atrophy, Collectionism, Depressivity, Disinhibition, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphagia, Dysphasia, Dyspnea, Dystonia, EEG with continuous slow activity, Echolalia, Emotional blunting, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontal release signs, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait disturbance, Generalized muscle weakness, Grammar-specific speech disorder, Hyperorality, Hyperreflexia, Hyporeflexia, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Muscle cramps, Mutism, Myoclonus, Neurodegeneration, Neuronal loss in central nervous system, Orofacial dyskinesia, Pain, Paralysis, Perseveration, Personality changes, Poor speech, Rapidly progressive, Respiratory failure, Respiratory insufficiency due to muscle weakness, Restlessness, Restrictive behavior, Rigidity, Skeletal muscle atrophy, Spasticity, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold, Urinary incontinence, Xerostomia
U1	CTSB	0.650766568	1.36E-07	Cysteine protease	BrainSpLMD|1508	OMIM|116810;HPO|1508|Erythema
U1	TCF12	0.759069761	1.37E-07	Transcription factor	BrainSpLMD|6938;BrainSpMouseDev|21167	OMIM|600480;COSMIC||extraskeletal myxoid chondrosarcoma;HPO|6938|Autosomal dominant inheritance, Brachycephaly, Broad forehead, Craniosynostosis, Facial asymmetry, Frontal bossing, Hearing impairment, Increased intracranial pressure, Plagiocephaly, Proptosis, Strabismus, Underdeveloped supraorbital ridges, Visual field defect
U1	NLGN4Y	1.100948405	1.42E-07	Adhesion molecule	BrainSpLMD|22829	SFARI||Autism, 4 - Minimal evidence;OMIM|400028
U1	TMEM2	0.46558852	1.44E-07	Integral membrane protein	BrainSpLMD|23670	OMIM|605835
U1	IER2	0.5623283	1.51E-07	Transcription factor	BrainSpLMD|9592;Eurexp|euxassay_013742|cochlea, incisor, molar, submandibular gland primordium, utricle, vestibular component, vibrissa	
U1	KXD1	0.799941644	1.53E-07	Unclassified	BrainSpLMD|79036	OMIM|615178
U1	CPT1A	1.295935244	1.78E-07	Enzyme: Palmitoyltransferase	BrainSpLMD|1374;Eurexp|euxassay_017982|adrenal gland, bladder, choroid plexus, dorsal root ganglion, glossopharyngeal IX, hindgut, intermediate grey horn, mantle layer, meninges, metanephros, midgut, pancreas, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|600528;HPO|1374|Arrhythmia, Autosomal recessive inheritance, Behavioral abnormality, Cardiomegaly, Coma, Diarrhea, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Fatigue, Feeding difficulties in infancy, Generalized hypotonia, Hemiplegia/hemiparesis, Hepatic failure, Hepatic steatosis, Hepatomegaly, Hyperammonemia, Hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Loss of consciousness, Muscular hypotonia, Neurological speech impairment, Prenatal maternal abnormality, Recurrent encephalopathy, Reduced tendon reflexes, Renal tubular acidosis, Seizures, Skeletal muscle atrophy, Transient hyperlipidemia
U1	ELMSAN1	0.410605798	1.84E-07	DNA binding protein	BrainSpLMD|91748	
U1	SLC35B3	0.979539254	1.88E-07	Membrane transport protein	BrainSpLMD|51000	OMIM|610845
U1	VIMP	0.958161997	1.90E-07			
U1	LAMP2	0.694194328	1.95E-07	Adhesion molecule	BrainSpLMD|3920	OMIM|309060;HPO|3920|Arrhythmia, Cardiomegaly, Cardiorespiratory arrest, Cognitive impairment, Dilated cardiomyopathy, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Exercise intolerance, Exercise-induced muscle cramps, Gait disturbance, Generalized amyotrophy, Global developmental delay, Hypertrophic cardiomyopathy, Hypokinesia, Intellectual disability, Muscle flaccidity, Myocardial fibrosis, Myocardial necrosis, Pes cavus, Phenotypic variability, Proximal muscle weakness, Visual impairment, Wolff-Parkinson-White syndrome, X-linked dominant inheritance
U1	SMC5	0.321847258	1.96E-07	Unclassified	BrainSpLMD|23137	OMIM|609386
U1	SIKE1	0.753642778	1.98E-07	Unclassified	BrainSpLMD|80143;Eurexp|euxassay_012757|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, ventricle, vestibulocochlear VIII	OMIM|611656
U1	CNTN4	0.357123672	1.98E-07	Adhesion molecule	BrainSpLMD|152330	SFARI||Autism, 2 - Strong candidate;OMIM|607280;HPO|152330|Atrioventricular canal defect, Brachycephaly, Cleft palate, Cognitive impairment, Cryptorchidism, Downturned corners of mouth, Epicanthus, Hearing impairment, High palate, Hypertelorism, Intrauterine growth retardation, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscular hypotonia, Postaxial hand polydactyly, Ptosis, Short stature, Telecanthus
U1	PTBP1	0.777903666	2.00E-07	Ribonucleoprotein	BrainSpLMD|5725	OMIM|600693
U1	SREK1	0.508677622	2.03E-07	RNA binding protein	BrainSpLMD|140890	OMIM|609268
U1	UTP11L	0.264371758	2.08E-07			
U1	SCP2	0.368833112	2.09E-07	Membrane transport protein	BrainSpLMD|6342	SFARI||Autism, 4 - Minimal evidence;OMIM|184755;HPO|6342|Abnormal motor neuron morphology, Abnormality of saccadic eye movements, Abnormality of thalamus morphology, Autosomal recessive inheritance, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Hyposmia, Intention tremor, Leukoencephalopathy, Peripheral neuropathy, Torticollis
U1	LRP10	1.167695657	2.11E-07	Cell surface receptor	BrainSpLMD|26020	OMIM|609921
U1	ZFYVE21	0.767482652	2.15E-07	Transport/cargo protein	BrainSpLMD|79038;Eurexp|euxassay_011588|thymus primordium, thyroid	OMIM|613504
U1	EIF3E	0.277119091	2.20E-07	Translation regulatory protein	BrainSpLMD|3646	OMIM|602210;COSMIC||colorectal
U1	AMD1	0.524272107	2.20E-07	Enzyme: Decarboxylase	BrainSpLMD|262;Eurexp|euxassay_002401|axial muscle, orbito-sphenoid	OMIM|180980
U1	MTR	0.251121855	2.39E-07	Enzyme: Methyltransferase	BrainSpLMD|4548	SFARI||Autism, 5 - Hypothesized but untested;OMIM|156570;HPO|4548|Autosomal recessive inheritance, Cerebral atrophy, Decreased methionine synthase activity, Decreased methylcobalamin, Failure to thrive, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Homocystinuria, Hyperhomocystinemia, Hypomethioninemia, Infantile onset, Intellectual disability, Megaloblastic anemia, Poor coordination, Seizures
U1	PENK	2.378382958	2.40E-07	Peptide hormone	BrainSpLMD|5179;BrainSpMouseDev|18385	OMIM|131330
U1	DPAGT1	0.988997342	2.42E-07	Enzyme: Glycosyltransferase	BrainSpLMD|1798	OMIM|191350;HPO|1798|Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Clinodactyly of the 5th finger, Congenital onset, Exotropia, Generalized hypotonia, Global developmental delay, Hyperreflexia, Intellectual disability, Inverted nipples, Microcephaly, Micrognathia, Motor delay, Muscular hypotonia, Nystagmus, Proximal muscle weakness, Ptosis, Scoliosis, Seizures, Single transverse palmar crease, Skin dimples, Slow progression, Type I transferrin isoform profile, Variable expressivity
U1	GUK1	0.883945698	2.52E-07	Enzyme: Phosphotransferase	BrainSpLMD|2987	OMIM|139270
U1	KLF3	1.022071305	2.66E-07	Transcription regulatory protein	BrainSpLMD|51274	OMIM|609392
U1	WWC2	1.16900242	2.75E-07	Unclassified	BrainSpLMD|80014	
U1	SLC35F2	0.70366698	2.76E-07	Membrane transport protein	BrainSpLMD|54733;Eurexp|euxassay_003909|genital tubercle, incisor, lateral wall, lung, mantle layer, metanephros, midgut, molar, naris, olfactory lobe, palatal shelf, pancreas, rectum, respiratory, submandibular gland primordium, thymus primordium, turbinate bones	
U1	TRMT112	0.3386121	2.82E-07	Unclassified	BrainSpLMD|51504;Eurexp|euxassay_005921|embryo	
U1	MYH10	0.633556202	2.89E-07	Structural protein	BrainSpLMD|4628;Eurexp|euxassay_009369|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system;BrainSpMouseDev|53419	OMIM|160776
U1	GNL2	0.957234152	2.93E-07	GTPase	BrainSpLMD|29889;Eurexp|euxassay_001872|cervical, cervico-thoracic, cortex, dorsal root ganglion, thymus primordium, vibrissa	OMIM|609365
U1	REST	0.581079267	2.98E-07	Transcription regulatory protein	BrainSpLMD|5978;BrainSpMouseDev|19475	OMIM|600571;HPO|5978|Abdominal pain, Gingival fibromatosis, Gingival overgrowth, Nephroblastoma
U1	FGD6	1.374617548	3.01E-07	Unclassified	BrainSpLMD|55785	OMIM|613520
U1	ATP6V0E1	0.485551499	3.06E-07	ATPase	BrainSpLMD|8992;Eurexp|euxassay_002321|Meckel's cartilage, basisphenoid bone, orbito-sphenoid, turbinate	OMIM|603931
U1	TOX	0.445280481	3.07E-07	DNA binding protein	BrainSpLMD|9760;Eurexp|euxassay_006612|axial skeleton, cervical, cervico-thoracic, clavicle, cricoid, diencephalon, exoccipital bone, femur, hindbrain, inner ear, lip, lung, mandible, mantle layer, mesenchyme, metanephros, metatarsus, midbrain, nasal septum, neural retina, orbito-sphenoid, pelvic girdle, penis, phalanx, rib, scapula, stomach, telencephalon, thoracic, thymus primordium, thyroid, turbinate, vault of skull, vibrissa, vomeronasal organ;BrainSpMouseDev|89963	OMIM|606863
U1	EIF4G1	0.636874568	3.18E-07	Translation regulatory protein	BrainSpLMD|1981	OMIM|600495
U1	TRIB2	0.26697823	3.26E-07	Serine/threonine kinase	BrainSpLMD|28951;BrainSpMouseDev|85202	OMIM|609462
U1	GTF2F1	0.458585394	3.26E-07	Transcription factor	BrainSpLMD|2962	OMIM|189968
U1	TWISTNB	0.407111985	3.26E-07	Transcription factor	BrainSpLMD|221830	OMIM|608312
U1	APP	0.266788355	3.32E-07	Cell surface receptor	BrainSpLMD|351;BrainSpMouseDev|11607	SFARI||Autism, No category;OMIM|104760;HPO|351|Alzheimer disease, Autosomal dominant inheritance, Behavioral abnormality, Cerebellar hemorrhage, Cerebral amyloid angiopathy, Cerebral calcification, Cerebral hemorrhage, Cerebral ischemia, Coma, Dementia, Dysphagia, Febrile seizures, Gait disturbance, Global developmental delay, Headache, Heterogeneous, Intellectual disability, Long-tract signs, Memory impairment, Migraine, Myoclonus, Neurofibrillary tangles, Paresthesia, Parkinsonism, Recurrent cerebral hemorrhage, Seizures, Sensory impairment, Stroke, Tortuous cerebral arteries
U1	DNAJC10	0.811792073	3.47E-07	Unclassified	BrainSpLMD|54431	OMIM|607987
U1	RPL41P5	0.517138412	3.48E-07			
U1	ISOC1	0.674367007	3.62E-07	Unclassified	BrainSpLMD|51015;BrainSpMouseDev|42150	
U1	SEPP1	0.743960082	3.75E-07			
U1	SCAMP2	0.953225175	3.97E-07	Membrane transport protein	BrainSpLMD|10066	OMIM|606912
U1	SND1	0.570535107	4.00E-07	Transcription regulatory protein	BrainSpLMD|27044	SFARI||Autism, 4 - Minimal evidence;OMIM|602181;COSMIC||pancreas acinar carcinoma
U1	CCNYL1	1.407877337	4.33E-07	Cell cycle control protein	BrainSpLMD|151195	
U1	DYNC2H1	0.537577434	4.67E-07	Motor protein	Eurexp|euxassay_014017|olfactory, ventricular layer	OMIM|603297;HPO|79659|Abdominal distention, Abnormal pelvis bone ossification, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Brachydactyly, Cleft upper lip, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypoplasia of penis, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Narrow chest, Postaxial hand polydactyly, Renal hypoplasia, Respiratory insufficiency, Short foot, Short palm, Short ribs, Short thorax, Skeletal dysplasia, Urethrovaginal fistula, Uterus didelphys, Wide nose
U1	DZIP1	0.783472026	4.78E-07	Unclassified	BrainSpLMD|22873;Eurexp|euxassay_006918|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, organ system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|608671
U1	PDZD2	0.965509027	4.87E-07	Unclassified	BrainSpLMD|23037;BrainSpMouseDev|43913	OMIM|610697
U1	PCDHGC3	1.138444247	5.16E-07	Unclassified		OMIM|603627
U1	PRDM2	0.943023026	5.22E-07	Transcription regulatory protein	BrainSpLMD|7799	OMIM|601196;COSMIC||glioma, colon adenocarcinoma, gastric carcinoma, ovarian carcinoma, HNSCC
U1	STAG1	0.949386129	5.23E-07	Cell cycle control protein	BrainSpLMD|10274	SFARI||Autism, No category;OMIM|604358;COSMIC||colorectal cancer, AML
U1	ERGIC3	0.429376463	5.34E-07	Unclassified	BrainSpLMD|51614	OMIM|616971
U1	PKIG	0.687782052	5.47E-07	Enzyme regulator;Regulatory/other subunit	BrainSpLMD|11142;Eurexp|euxassay_010432|tongue, vertebral axis muscle system	OMIM|604932
U1	SMAD5	0.429452616	5.53E-07	Transcription regulatory protein	BrainSpLMD|4090;Eurexp|euxassay_019553|incisor, lung, mantle layer, metanephros, molar, saccule, spleen primordium, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|16899	OMIM|603110
U1	TMEM43	1.066657458	5.63E-07	Integral membrane protein	BrainSpLMD|79188	OMIM|612048;HPO|79188|Adult onset, Atrial fibrillation, Autosomal dominant inheritance, Bradycardia, Chest pain, Congestive heart failure, Muscular dystrophy, Neck muscle weakness, Palpitations, Prolonged QRS complex, Proximal amyotrophy, Proximal muscle weakness, Right ventricular cardiomyopathy, Slow progression, Sudden cardiac death, Ventricular extrasystoles, Ventricular tachycardia
U1	KDM5D	0.436161575	5.93E-07	MHC complex protein		OMIM|426000;HPO|8284|Azoospermia, Y-linked inheritance
U1	REXO2	0.964273476	6.21E-07	Ribonuclease	BrainSpLMD|25996	OMIM|607149
U1	TPR	0.363639266	6.21E-07	Unclassified	BrainSpLMD|7175;Eurexp|euxassay_012642|cortex, incisor, lobe, molar, olfactory, testis, thymus primordium, ventricular layer, vibrissa	OMIM|189940;COSMIC||papillary thyroid, NSCLC
U1	PEG10	0.312999888	6.36E-07	Cell cycle control protein	BrainSpLMD|23089;BrainSpMouseDev|81989	OMIM|609810
U1	MESDC2	0.388695361	6.66E-07			
U1	TCP1	0.561863982	6.74E-07	Chaperone	BrainSpLMD|6950	OMIM|186980
U1	IER3IP1	0.814452724	6.88E-07	Unclassified	BrainSpLMD|51124;Eurexp|euxassay_011577|brain, clavicle, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, left lung, metanephros, olfactory, retina, right lung, spinal cord, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|609382;HPO|51124|Anteverted nares, Autosomal recessive inheritance, Brisk reflexes, Congenital onset, Cortical gyral simplification, Delayed myelination, Diabetes mellitus, Feeding difficulties, Full cheeks, Generalized myoclonic seizures, Global developmental delay, High palate, Hypoplasia of the corpus callosum, Hypsarrhythmia, Intellectual disability, profound, Jaundice, Microcephaly, Muscular hypotonia of the trunk, Narrow forehead, Neonatal hypotonia, Ptosis, Recurrent respiratory infections, Tented upper lip vermilion
U1	SNX3	0.31400746	6.98E-07	Transport/cargo protein	BrainSpLMD|8724;Eurexp|euxassay_015289|nucleus pulposus, thymus primordium, ventricular layer	OMIM|605930
U1	CRIM1	0.374350231	7.32E-07	Integral membrane protein	BrainSpLMD|51232;Eurexp|euxassay_014038|lens, mantle layer, physiological umbilical hernia, ventral grey horn, vibrissa	OMIM|606189
U1	ITGB1BP1	0.773380442	7.34E-07	Adapter molecule	BrainSpLMD|9270;Eurexp|euxassay_006800|left lung, right lung	OMIM|607153
U1	CDC26	0.272385337	7.42E-07	Cell cycle control protein	BrainSpLMD|246184	OMIM|614533
U1	MT.CO1	0.34953662	7.57E-07			
U1	UFC1	0.367139707	7.63E-07	Unclassified	BrainSpLMD|51506;Eurexp|euxassay_000654|chondrocranium	OMIM|610554
U1	ELF1	0.660467572	7.68E-07	Transcription factor	BrainSpLMD|1997;Eurexp|euxassay_019460|bladder, epidermis, epithelium, hindgut, incisor, larynx, liver, lung, metanephros, midgut, oesophagus, olfactory, oral epithelium, pancreas, pharyngo-tympanic tube, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, vibrissa;BrainSpMouseDev|13487	OMIM|189973
U1	SLC25A3	0.452437509	7.83E-07	Transport/cargo protein	BrainSpLMD|5250	OMIM|600370;HPO|5250|Abnormal mitochondrial shape, Abnormality of the mitochondrion, Autosomal recessive inheritance, Cyanosis, Failure to thrive, Hypertrophic cardiomyopathy, Increased serum lactate, Lactic acidosis, Low-output congestive heart failure, Metabolic acidosis, Muscular hypotonia, Myopathy, Respiratory insufficiency
U1	SLC31A1	0.698829477	8.09E-07	Transport/cargo protein	BrainSpLMD|1317;Eurexp|euxassay_004933|cervical, cervico-thoracic, choroid invagination, choroid plexus, incisor, medulla, roof plate, thoracic	OMIM|603085
U1	GORASP2	0.522684408	8.78E-07	Transport/cargo protein	BrainSpLMD|26003	OMIM|608693
U1	TSPYL5	0.482232079	8.92E-07	Unclassified	BrainSpLMD|85453	OMIM|614721
U1	SRSF2	0.281147307	1.00E-06	Ribonucleoprotein	BrainSpLMD|6427	OMIM|600813;COSMIC||MDS, CLL
U1	ARFGAP1	0.658205115	1.01E-06	GTPase activating protein	BrainSpLMD|55738;Eurexp|euxassay_000537|axial skeleton, basioccipital bone, basisphenoid bone, cranium, frontal bone primordium, inner ear, inter-parietal bone primordium, labyrinth, mandible, mesenchyme, optic foramen, orbito-sphenoid, otic capsule, parietal bone	OMIM|608377
U1	BRD2	0.448860354	1.02E-06	Transcription regulatory protein	BrainSpLMD|6046;Eurexp|euxassay_012809|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mandible, mantle layer, maxilla, orbito-sphenoid, submandibular gland primordium, trigeminal V, vagus X	OMIM|601540
U1	PDLIM7	0.723728345	1.04E-06	Adapter molecule		OMIM|605903
U1	TMEM167A	0.730630987	1.08E-06	Integral membrane protein	BrainSpLMD|153339	
U1	LRP11	1.321598735	1.09E-06	Cell surface receptor	BrainSpLMD|84918;Eurexp|euxassay_007470|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	
U1	RP11.466P24.2	0.605814802	1.13E-06			
U1	TNFRSF1A	0.426458138	1.14E-06	Cell surface receptor	BrainSpLMD|7132	OMIM|191190;HPO|7132|Abdominal pain, Amyloidosis, Arthralgia, Arthritis, Autosomal dominant inheritance, Conjunctival hyperemia, Constipation, Diarrhea, Edema, Elevated C-reactive protein level, Elevated erythrocyte sedimentation rate, Episodic fever, Erysipelas, Erythema, Hepatic amyloidosis, Intestinal obstruction, Leukocytosis, Lymphadenopathy, Muscle stiffness, Myalgia, Orchitis, Pericarditis, Periorbital edema, Pleuritis, Skin rash, Splenomegaly, Vomiting
U1	TXLNGY	1.190093252	1.14E-06	Unclassified		OMIM|400031
U1	YPEL5	0.381224146	1.23E-06	Unclassified	BrainSpLMD|51646	OMIM|609726
U1	RP11.16E23.4	0.910787328	1.27E-06			
U1	AMOT	0.932130132	1.27E-06	Unclassified	BrainSpLMD|154796	OMIM|300410
U1	MTERFD3	0.561770427	1.34E-06			
U1	MRFAP1	0.290711432	1.36E-06	Adapter molecule	BrainSpLMD|93621	OMIM|616905
U1	RP11.305M3.2	0.334533854	1.45E-06			
U1	WSB1	0.406289119	1.47E-06	Unclassified	BrainSpLMD|26118;Eurexp|euxassay_005031|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610091
U1	POLR2K	0.252778364	1.48E-06	Transcription regulatory protein	BrainSpLMD|5440;Eurexp|euxassay_019504|incisor, liver, lung, molar, olfactory, submandibular gland primordium, thymus primordium, vibrissa, vomeronasal organ	OMIM|606033
U1	MYO10	0.585973859	1.48E-06	Motor protein	BrainSpLMD|4651;Eurexp|euxassay_009373|mantle layer, marginal layer, thymus primordium, trigeminal V, ventricular layer	OMIM|601481
U1	PPWD1	0.472191833	1.49E-06	Unclassified	BrainSpLMD|23398	
U1	ERLIN1	0.735692347	1.51E-06	Unclassified	BrainSpLMD|10613	OMIM|611604;HPO|10613|Autosomal recessive inheritance, Clonus, Difficulty walking, Lower limb spasticity, Progressive, Spastic gait, Tip-toe gait
U1	SDK2	0.510209022	1.51E-06	Adhesion molecule	BrainSpLMD|54549;Eurexp|euxassay_009454|clavicle, femur, mantle layer, tongue, ventral grey horn, ventricular layer	OMIM|607217
U1	SYPL1	1.252739545	1.51E-06	Integral membrane protein	BrainSpLMD|6856;Eurexp|euxassay_005903|embryo	OMIM|616665
U1	RBM39	0.411893347	1.53E-06	RNA binding protein;Transcription regulatory protein	BrainSpLMD|9584	OMIM|604739
U1	ARFGAP3	0.726561264	1.57E-06	GTPase activating protein	BrainSpLMD|26286	OMIM|612439
U1	RPL13P12	0.393705525	1.61E-06			
U1	BMPR1A	0.383117763	1.62E-06	Receptor serine/threonine kinase	BrainSpLMD|657;BrainSpMouseDev|11952	OMIM|601299;COSMIC||gastrointestinal polyps;HPO|657|Abdominal pain, Adenomatous colonic polyposis, Anemia, Autosomal dominant inheritance, Colon cancer, Failure to thrive, Hyperplastic colonic polyposis, Hypoalbuminemia, Hypokalemia, Juvenile colonic polyposis, Multiple gastric polyps
U1	CNPY4	0.693767293	1.64E-06	Unclassified	BrainSpLMD|245812	OMIM|610047
U1	YME1L1	0.268334312	1.65E-06	Metallo protease	BrainSpLMD|10730	OMIM|607472;HPO|10730|Amblyopia, Autosomal recessive inheritance, Brain atrophy, Cerebellar hypoplasia, Dysmetria, Facial diplegia, Global developmental delay, Hyperactivity, Hyperkinesis, Hypermetropia, Infantile onset, Intellectual disability, Leukoencephalopathy, Macrocephaly, Macrotia, Microcephaly, Midface retrusion, Myopia, Optic atrophy, Short stature, Strabismus, Visual impairment
U1	POLR2E	0.367579496	1.69E-06	RNA polymerase	BrainSpLMD|5434;Eurexp|euxassay_011641|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|180664
U1	RP11.734J24.1	0.253407805	1.70E-06			
U1	FZD7	0.349245137	1.72E-06	G protein coupled receptor	BrainSpLMD|8324;BrainSpMouseDev|14145	OMIM|603410
U1	NBN	0.752679854	1.77E-06	DNA repair protein	BrainSpLMD|4683	OMIM|602667;COSMIC||NHL, glioma, medulloblastoma, rhabdomyosarcoma;HPO|4683|Abnormal hair quantity, Abnormality of chromosome stability, Abnormality of the fallopian tube, Acute lymphoblastic leukemia, Anal atresia, Anal stenosis, Aplastic anemia, Attention deficit hyperactivity disorder, Autoimmune hemolytic anemia, Autosomal recessive inheritance, B lymphocytopenia, Bone marrow hypocellularity, Breast carcinoma, Bronchiectasis, Cachexia, Cafe-au-lait spot, Choanal atresia, Chronic diarrhea, Cleft palate, Cleft upper lip, Convex nasal ridge, Decrease in T cell count, Deep philtrum, Depressed nasal bridge, Diarrhea, Dysgammaglobulinemia, Glioma, Hearing abnormality, Hydronephrosis, Hyperactivity, Intellectual disability, Intrauterine growth retardation, Long nose, Low anterior hairline, Lymphoma, Macrotia, Malar prominence, Mastoiditis, Medulloblastoma, Mental deterioration, Microcephaly, Micrognathia, Neurodegeneration, Otitis media, Ovarian neoplasm, Pollakisuria, Polygenic inheritance, Premature ovarian insufficiency, Primary peritoneal carcinoma, Progressive vitiligo, Prominent nasal bridge, Prominent nose, Recurrent bronchitis, Recurrent infection of the gastrointestinal tract, Recurrent pneumonia, Recurrent sinopulmonary infections, Recurrent urinary tract infections, Retrognathia, Rhabdomyosarcoma, Short neck, Short stature, Sinusitis, Sloping forehead, Thrombocytopenia, Upslanted palpebral fissure
U1	XXYLT1	0.484556478	1.82E-06	Unclassified	BrainSpLMD|152002	OMIM|614552
U1	RARS2	0.430190296	1.82E-06	Enzyme: Synthase	BrainSpLMD|57038;Eurexp|euxassay_012458|pituitary, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|611524;HPO|57038|Absent speech, Apnea, Atrophy/Degeneration affecting the brainstem, Autosomal recessive inheritance, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy, Congenital onset, Death in childhood, Deeply set eye, Failure to thrive, Generalized hypotonia, Global developmental delay, Hyperreflexia, Increased CSF lactate, Increased serum lactate, Lower limb spasticity, Narrow forehead, Narrow palate, Poor head control, Poor suck, Progressive, Progressive microcephaly, Prominent nasal bridge, Seizures, Upper limb spasticity, Variable expressivity
U1	FAM162A	0.819870736	1.88E-06	Unclassified	BrainSpLMD|26355	OMIM|608017
U1	GRHPR	0.801975147	1.89E-06	Enzyme: Reductase	BrainSpLMD|9380;Eurexp|euxassay_000601|adrenal gland	OMIM|604296;HPO|9380|Aminoaciduria, Autosomal recessive inheritance, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Variable expressivity
U1	ARFIP1	0.41034578	1.91E-06	Unclassified	BrainSpLMD|27236	OMIM|605928
U1	C11orf24	0.716647349	1.93E-06	Unclassified	BrainSpLMD|53838;Eurexp|euxassay_001949|Meckel's cartilage, basioccipital bone, basisphenoid bone, brain, cervical, cervico-thoracic, cortex, facial VII, glossopharyngeal IX, head mesenchyme, incisor, molar, orbito-sphenoid, spinal cord, submandibular gland primordium, thoracic, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|610880
U1	COPG1	0.797796861	1.96E-06	Transport/cargo protein	BrainSpLMD|22820;Eurexp|euxassay_010470|clavicle, mandible, maxilla, orbito-sphenoid, rib, turbinate	OMIM|615525
U1	SH3D19	0.886942133	1.96E-06	Unclassified	Eurexp|euxassay_012615|choroid plexus, hindgut, metanephros, midgut, olfactory, stomach	OMIM|608674
U1	C16orf80	0.402312485	1.98E-06			
U1	DR1	0.986593057	2.00E-06	Transcription regulatory protein	BrainSpLMD|1810	OMIM|601482
U1	MRPL51	0.295876375	2.01E-06	Ribosomal subunit	BrainSpLMD|51258	OMIM|611855
U1	THY1	0.66740126	2.01E-06	Unclassified	BrainSpLMD|7070;Eurexp|euxassay_018968|anterior, calyces, dermis, femur, fibula, humerus, incisor, mantle layer, metanephros, pelvic girdle, pelvis, renal/urinary system, scapula, sublingual gland primordium, thymus primordium, tibia, ureter, ventral grey horn, vibrissa	OMIM|188230
U1	MLEC	0.41041229	2.11E-06	Unclassified	BrainSpLMD|9761;Eurexp|euxassay_016414|clavicle, lung, mandible, maxilla, orbito-sphenoid, submandibular gland primordium, temporal bone, turbinate	OMIM|613802
U1	CETN2	0.390132964	2.30E-06	Calcium binding protein	BrainSpLMD|1069;Eurexp|euxassay_015485|choroid plexus, lateral recess	OMIM|300006
U1	NEDD8	0.326746232	2.32E-06	Ubiquitin proteasome system protein	BrainSpLMD|4738	OMIM|603171
U1	LETM2	0.293288385	2.34E-06	Unclassified	BrainSpLMD|137994	
U1	UTY	0.263546468	2.39E-06	Unclassified	BrainSpLMD|7404	OMIM|400009
U1	TIMM23	0.254200311	2.41E-06			OMIM|605034
U1	FKBP2	0.521837213	2.45E-06	Enzyme: Isomerase	BrainSpLMD|2286	OMIM|186946
U1	VTI1B	0.326505282	2.59E-06	Unclassified	BrainSpLMD|10490;Eurexp|euxassay_009816|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	OMIM|603207
U1	COPS3	0.717993661	2.63E-06	Transcription regulatory protein	BrainSpLMD|8533	OMIM|604665
U1	PAPPA2	1.091550548	2.88E-06	Metallo protease	BrainSpLMD|60676;Eurexp|euxassay_019547|adrenal gland, clavicle, dorsal root ganglion, glossopharyngeal IX, incisor, mandible, mantle layer, molar, trigeminal V;BrainSpMouseDev|23603	
U1	PSMD8	0.418955088	2.88E-06	Ubiquitin proteasome system protein	BrainSpLMD|5714;Eurexp|euxassay_006093|epidermis, naris, nose, urethra, vibrissa	
U1	RIOK2	0.938766189	3.17E-06	Unclassified	BrainSpLMD|55781	OMIM|617754
U1	LAP3	0.506345007	3.33E-06	Aminopeptidase	BrainSpLMD|51056;Eurexp|euxassay_002166|ventricular layer	OMIM|170250
U1	SS18	0.683340222	3.35E-06	Transcription regulatory protein	BrainSpLMD|6760	OMIM|600192;COSMIC||synovial sarcoma
U1	KIF13A	1.004993945	3.40E-06	Motor protein	BrainSpLMD|63971;Eurexp|euxassay_011388|anterior, bladder, dorsal root ganglion, external, facial VII, incisor, left lung, mantle layer, molar, naso-lacrimal duct, oral epithelium, pharyngo-tympanic tube, right lung, submandibular gland primordium, urethra	OMIM|605433
U1	UBE2D3	0.407951114	3.46E-06	Ubiquitin proteasome system protein	BrainSpLMD|7323;Eurexp|euxassay_006830|embryo	OMIM|602963
U1	ZEB1	0.616268115	3.49E-06	Transcription factor	BrainSpLMD|6935;Eurexp|euxassay_015398|central nervous system, meninges, vertebral axis muscle system;BrainSpMouseDev|21178	OMIM|189909;COSMIC||CCRCC, melanoma;HPO|6935|Autosomal dominant inheritance, Corneal dystrophy, Corneal guttata
U1	C1orf123	0.474830293	3.51E-06	Unclassified		
U1	CMC1	0.865054749	3.58E-06	Unclassified	BrainSpLMD|152100	OMIM|615166
U1	TBC1D32	0.841198837	3.70E-06	Unclassified	BrainSpLMD|221322	OMIM|615867
U1	PMEPA1	0.891086928	3.72E-06	Integral membrane protein	BrainSpLMD|56937	OMIM|606564
U1	RAB18	0.437689944	3.73E-06	GTPase	BrainSpLMD|22931	OMIM|602207;HPO|22931|Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Ankle clonus, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Blepharophimosis, Brachycephaly, Cataract, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Clitoral hypoplasia, Congenital cataract, Cortical visual impairment, Cryptorchidism, Decreased testicular size, Delayed puberty, Downturned corners of mouth, Flexion contracture, Generalized hirsutism, Global developmental delay, High palate, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplastic labia minora, Intellectual disability, profound, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphoscoliosis, Kyphosis, Lissencephaly, Low anterior hairline, Low-set, posteriorly rotated ears, Macrotia, Microcephaly, Microcornea, Micrognathia, Micropenis, Microphthalmia, Muscular hypotonia, Muscular hypotonia of the trunk, Narrow palate, Nystagmus, Optic atrophy, Pachygyria, Polymicrogyria, Postnatal growth retardation, Postnatal microcephaly, Scoliosis, Scrotal hypoplasia, Seizures, Shallow anterior chamber, Short nose, Short philtrum, Short stature, Spastic tetraplegia, Spasticity, Ventriculomegaly, Wide nasal bridge
U1	OS9	0.427410614	4.02E-06	Unclassified	BrainSpLMD|10956;Eurexp|euxassay_003123|Meckel's cartilage, cervical, cervico-thoracic, chondrocranium, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, lobe, molar, orbito-sphenoid, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|609677
U1	STX5	1.448401839	4.10E-06	Transport/cargo protein	BrainSpLMD|6811	OMIM|603189
U1	PTCD1	1.162849737	4.12E-06	Unclassified	BrainSpLMD|26024	OMIM|614774
U1	PEX2	0.866402091	4.17E-06	Integral membrane protein	BrainSpLMD|5828;Eurexp|euxassay_006584|embryo	OMIM|170993;HPO|5828|Abnormal heart morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the helix, Abnormality of the liver, Abnormality of the palate, Anteverted nares, Areflexia, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, Brushfield spots, Camptodactyly, Cataract, Cerebellar atrophy, Chorioretinal abnormality, Cleft palate, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Cubitus valgus, Death in infancy, Decreased liver function, Depressed nasal bridge, Developmental regression, Difficulty running, Dolichocephaly, Dysarthria, Dysmetria, EEG abnormality, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Generalized neonatal hypotonia, Global developmental delay, Hepatic failure, Hepatomegaly, Hepatosplenomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypertelorism, Hyporeflexia, Hypospadias, Intellectual disability, Intrahepatic biliary dysgenesis, Intrauterine growth retardation, Jaundice, Large fontanelles, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrogyria, Malabsorption, Metatarsus adductus, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Muscular hypotonia, Neonatal hypotonia, Nyctalopia, Nystagmus, Oculomotor apraxia, Opacification of the corneal stroma, Optic atrophy, Optic nerve dysplasia, Palpebral edema, Pigmentary retinopathy, Polymicrogyria, Poor suck, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Renal cortical microcysts, Renal cyst, Respiratory insufficiency, Rod-cone dystrophy, Round face, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Single transverse palmar crease, Skeletal dysplasia, Slow progression, Slow saccadic eye movements, Spasticity, Splenomegaly, Stippled chondral calcification, Strabismus, Talipes equinovarus, Tremor, Underdeveloped supraorbital ridges, Unsteady gait, Upslanted palpebral fissure, Variable expressivity, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
U1	EIF2D	1.599348068	4.42E-06	Cell surface receptor	BrainSpLMD|1939	OMIM|613709
U1	MBIP	0.272399372	4.91E-06	Unclassified	BrainSpLMD|51562;Eurexp|euxassay_005376|lung	OMIM|609431
U1	SFT2D1	0.314183539	4.92E-06	Integral membrane protein	BrainSpLMD|113402	
U1	APLP2	0.650859387	5.01E-06	Integral membrane protein	BrainSpLMD|334;Eurexp|euxassay_004667|axial muscle, fundus region, submandibular gland primordium, urethra, ventral grey horn, vibrissa	OMIM|104776
U1	SKIL	0.567209787	5.04E-06	Unclassified	BrainSpLMD|6498	OMIM|165340
U1	ZNF395	0.536235502	5.05E-06	Transcription regulatory protein	BrainSpLMD|55893	OMIM|609494
U1	NOL10	0.33532899	5.81E-06	Unclassified	BrainSpLMD|79954	OMIM|616197
U1	RPL5P34	0.61974469	5.94E-06			
U1	TWF1P1	0.670824853	6.05E-06			
U1	COPE	0.629034816	6.30E-06	Transport/cargo protein	BrainSpLMD|11316	OMIM|606942
U1	SDF2	0.714926172	6.46E-06	Secreted polypeptide	BrainSpLMD|6388	OMIM|602934
U1	ETFA	0.525059818	6.65E-06	Membrane transport protein	BrainSpLMD|2108;Eurexp|euxassay_002051|thymus primordium, ventricular layer	OMIM|608053;HPO|2108|Abnormal facial shape, Abnormality of the genital system, Abnormality of the pinna, Autosomal recessive inheritance, Congenital cataract, Defective dehydrogenation of isovaleryl CoA and butyryl CoA, Depressed nasal bridge, Electron transfer flavoprotein-ubiquinone oxidoreductase defect, Ethylmalonic aciduria, Generalized aminoaciduria, Gliosis, Glutaric acidemia, Glutaric aciduria, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, High forehead, Hypoglycemia, Hypoglycemic coma, Jaundice, Macrocephaly, Muscle weakness, Muscular hypotonia, Nausea, Neonatal death, Pachygyria, Polycystic kidney dysplasia, Proximal tubulopathy, Pulmonary hypoplasia, Renal cortical cysts, Respiratory distress, Telecanthus, Vomiting, Wide anterior fontanel
U1	LRRN3	1.60571664	6.74E-06	Integral membrane protein	BrainSpLMD|54674;Eurexp|euxassay_015911|cervical, cervico-thoracic, ear, facial VII, glossopharyngeal IX, lip, mantle layer, marginal layer, medulla, neural retina, olfactory, pituitary, stomach, thoracic, trachea, trigeminal V, ventral grey horn, vestibular component, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16751	
U1	SPRED1	0.275657541	6.78E-06	Unclassified	BrainSpLMD|161742	OMIM|609291;HPO|161742|Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Axillary freckling, Cafe-au-lait spot, Downslanted palpebral fissures, Epicanthus, Generalized hypotonia, High, narrow palate, Hypertelorism, Low posterior hairline, Low-set, posteriorly rotated ears, Macrocephaly, Micrognathia, Multiple lipomas, Neurofibromas, Ptosis, Short neck, Specific learning disability, Triangular face
U1	HDDC2	0.61488997	6.80E-06	Unclassified	BrainSpLMD|51020	
U1	NME1.NME2	1.237900558	6.81E-06			
U1	APRT	0.541055986	6.89E-06	Enzyme: Ribosyltransferase	BrainSpLMD|353;Eurexp|euxassay_001689|Meckel's cartilage, axial muscle, olfactory, orbito-sphenoid, vault of skull	OMIM|102600;HPO|353|Autosomal recessive inheritance, Hematuria, Nephrolithiasis, Renal insufficiency
U1	GPR180	0.374260498	7.18E-06	G protein coupled receptor	BrainSpLMD|160897	OMIM|607787
U1	POLR2G	0.353427377	7.36E-06	RNA polymerase	BrainSpLMD|5436	OMIM|602013
U1	RPSAP58	0.374466495	7.72E-06		BrainSpLMD|388524	
U1	SIGMAR1	0.356302527	7.76E-06	Integral membrane protein	BrainSpLMD|10280	OMIM|601978;HPO|10280|Abnormal lower motor neuron morphology, Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Amyotrophic lateral sclerosis, Autosomal recessive inheritance, Babinski sign, Decreased motor nerve conduction velocity, Decreased muscle mass, Distal amyotrophy, Distal muscle weakness, Dysarthria, EMG abnormality, Foot dorsiflexor weakness, Gait disturbance, Hammertoe, Hyperreflexia, Hyporeflexia, Pes cavus, Progressive, Pseudobulbar behavioral symptoms, Slow progression, Spasticity, Spinal muscular atrophy
U1	GTF2H2C	0.540177123	7.83E-06	Unclassified		
U1	CNIH1	0.343333677	8.03E-06	Integral membrane protein	BrainSpLMD|10175	OMIM|611287
U1	HEXA	0.847708278	8.30E-06	Enzyme: Hydrolase	BrainSpLMD|3073;Eurexp|euxassay_009883|mandible, maxilla	OMIM|606869;HPO|3073|Apathy, Aspiration, Autosomal recessive inheritance, Blindness, Cherry red spot of the macula, Dementia, Exaggerated startle response, GM2-ganglioside accumulation, Generalized hypotonia, Infantile onset, Muscular hypotonia, Poor head control, Psychomotor deterioration, Seizures
U1	NBPF1	0.535414325	8.35E-06	Unclassified		OMIM|610501
U1	C5orf15	0.568274503	8.44E-06	Unclassified	BrainSpLMD|56951	
U1	PABPC4	0.50035693	8.60E-06	RNA binding protein	BrainSpLMD|8761;Eurexp|euxassay_006543|embryo	OMIM|603407
U1	SLC25A32	0.953399819	8.64E-06	Membrane transport protein	BrainSpLMD|81034;Eurexp|euxassay_019723|floorplate	OMIM|610815;HPO|81034|Autosomal recessive inheritance, Exercise intolerance, Ragged-red muscle fibers
U1	GPR107	0.757722083	8.68E-06	G protein coupled receptor	BrainSpLMD|57720	
U1	TMEM248	0.823076037	8.91E-06	Unclassified	BrainSpLMD|55069;Eurexp|euxassay_012566|ventricle	
U1	MBTPS1	0.423393018	9.05E-06	Protease	BrainSpLMD|8720	OMIM|603355
U1	EXT1	1.304848195	9.14E-06	Enzyme: Glycosyltransferase	BrainSpLMD|2131;Eurexp|euxassay_003308|axial skeleton, extrinsic ocular muscle, incisor, lung, marginal layer, mesenchyme, midgut, molar, pelvic girdle, penis, skeletal muscle, skin, sternum, stomach, submandibular gland primordium, trachea, turbinate bones, urethra, valve, ventral grey horn, ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|608177;COSMIC||exostoses, osteosarcoma;HPO|2131|Abnormality of femur morphology, Abnormality of the dentition, Abnormality of the foot, Abnormality of the humerus, Abnormality of the metaphysis, Abnormality of tibia morphology, Anteverted nares, Aplasia/Hypoplasia of the mandible, Aseptic necrosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone pain, Bulbous nose, Cervical myelopathy, Chondrosarcoma, Cone-shaped epiphyses of the phalanges of the hand, Coxa vara, Cranial nerve paralysis, Deep philtrum, Delayed skeletal maturation, Failure to thrive, Genu valgum, Hypoplasia of the ulna, Intellectual disability, Joint dislocation, Joint hyperflexibility, Juvenile onset, Long philtrum, Low-set, posteriorly rotated ears, Madelung deformity, Madelung-like forearm deformities, Micromelia, Multiple exostoses, Multiple long-bone exostoses, Muscle weakness, Pelvic bone exostoses, Peripheral nerve compression, Protruding ear, Protuberances at ends of long bones, Radial bowing, Redundant skin, Rib exostoses, Scapular exostoses, Short metacarpal, Short stature, Sparse scalp hair, Thick eyebrow, Thin upper lip vermilion
U1	SUMO1P3	0.893450922	1.01E-05		BrainSpLMD|474338	
U1	CMTR2	0.997252818	1.04E-05	Unclassified	BrainSpLMD|55783	OMIM|616190
U1	TYW3	0.330362005	1.05E-05	Unclassified	BrainSpLMD|127253	OMIM|611245
U1	INTS6	0.771454319	1.09E-05	RNA binding protein	BrainSpLMD|26512	SFARI||Autism, 2 - Strong candidate;OMIM|604331
U1	BSG	0.433007047	1.10E-05	Cell surface receptor	BrainSpLMD|682	OMIM|109480
U1	CCNK	1.191162724	1.13E-05	Transcription regulatory protein	BrainSpLMD|8812	OMIM|603544
U1	CALR	0.637333214	1.13E-05	Chaperone	BrainSpLMD|811	OMIM|109091;COSMIC||MPN, MDS;HPO|811|Abnormal platelet morphology, Abnormality of the skeletal system, Acrocyanosis, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Chest pain, Hypertension, Impaired platelet aggregation, Increased megakaryocyte count, Myelofibrosis, Myeloproliferative disorder, Myocardial infarction, Paresthesia, Prolonged bleeding time, Somatic mutation, Splenomegaly, Thrombocytosis, Transient ischemic attack, Venous thrombosis
U1	JAK1	0.424291813	1.14E-05	Tyrosine kinase	BrainSpLMD|3716;Eurexp|euxassay_003142|basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, thymus primordium, trigeminal V, vagus X, ventral grey horn	OMIM|147795;COSMIC||ALL
U1	UXS1	1.079006151	1.14E-05	Enzyme: Decarboxylase	BrainSpLMD|80146	OMIM|609749
U1	COPS7A	0.492770868	1.14E-05	Transcription regulatory protein	BrainSpLMD|50813;Eurexp|euxassay_006494|submandibular gland primordium, ventricular layer, vibrissa	OMIM|616009
U1	GARS	0.608054915	1.18E-05	Enzyme: Ligase	BrainSpLMD|2617	OMIM|600287;HPO|2617|Autosomal dominant inheritance, Cold-induced hand cramps, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, First dorsal interossei muscle atrophy, First dorsal interossei muscle weakness, Hammertoe, Hyporeflexia, Onset, Pes cavus, Scoliosis, Slow progression, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness
U1	YIPF3	0.753453031	1.23E-05	Integral membrane protein	BrainSpLMD|25844	OMIM|609775
U1	NF2	0.336421161	1.25E-05	Cytoskeletal associated protein	BrainSpLMD|4771	OMIM|607379;COSMIC||meningioma, acoustic neuroma, renal, meningioma, acoustic neuroma;HPO|4771|Abnormality of the skin, Abnormality of the vertebral column, Adult onset, Ataxia, Autosomal dominant inheritance, Cataract, Epiretinal membrane, Incomplete penetrance, Meningioma, Migraine, Peripheral neuropathy, Schwannoma, Sensorineural hearing impairment, Somatic mutation, Spinal cord tumor, Tinnitus, Variable expressivity, Vertigo
U1	SENP2	0.361917128	1.26E-05	Ubiquitin proteasome system protein	BrainSpLMD|59343	OMIM|608261
U1	TMEM159	0.320032228	1.32E-05	Unclassified	BrainSpLMD|57146	OMIM|611304
U1	ANAPC5	0.411996244	1.33E-05	Cell cycle control protein	BrainSpLMD|51433	OMIM|606948
U1	ATOX1	0.531022229	1.39E-05	Chaperone	BrainSpLMD|475	OMIM|602270
U1	HIST1H2BK	0.526446148	1.45E-05	DNA binding protein	BrainSpLMD|85236	OMIM|615045
U1	ST7.OT4	0.637819094	1.46E-05			
U1	DDX5	0.364285034	1.46E-05	RNA binding protein	BrainSpLMD|1655;BrainSpMouseDev|12987	OMIM|180630;COSMIC||prostate
U1	NFAT5	0.397448896	1.47E-05	Transcription factor	BrainSpLMD|10725;BrainSpMouseDev|33737	OMIM|604708
U1	JAM3	0.406688833	1.48E-05	Adhesion molecule	BrainSpLMD|83700;Eurexp|euxassay_000180|cerebral cortex, chondrocranium, diaphragm, head mesenchyme, limb, mantle layer, mesenchyme, tongue, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|58180	OMIM|606871;HPO|83700|Autosomal recessive inheritance, Cataract, Congenital onset, Global developmental delay, Hepatomegaly, Hyperreflexia, Postnatal microcephaly, Seizures, Spasticity, Ventriculomegaly
U1	OXCT1	0.743956955	1.48E-05	Enzyme: CoA transferase	BrainSpLMD|5019	OMIM|601424;HPO|5019|Autosomal recessive inheritance, Episodic ketoacidosis, Ketonuria, Tachypnea, Vomiting
U1	TMEM87A	0.406280655	1.49E-05	Integral membrane protein	BrainSpLMD|25963	
U1	YES1	0.582844431	1.49E-05	Tyrosine kinase	BrainSpLMD|7525	OMIM|164880
U1	UNC50	1.047206037	1.54E-05	RNA binding protein	BrainSpLMD|25972	
U1	VKORC1	0.559156835	1.58E-05	Enzyme: Reductase;Coagulation factor	BrainSpLMD|79001;Eurexp|euxassay_000753|Meckel's cartilage, chondrocranium, incisor, molar	OMIM|608547;HPO|79001|Abnormal bleeding, Abnormality of blood and blood-forming tissues, Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Autosomal recessive inheritance, Reduced factor IX activity, Reduced factor VII activity, Reduced factor X activity, Reduced prothrombin activity
U1	10-Sep	0.627134408	1.59E-05			
U1	ARL5B	0.851758239	1.63E-05	GTPase	BrainSpLMD|221079	OMIM|608909
U1	SERBP1P1	0.331439725	1.65E-05			
U1	GK5	1.561902049	1.72E-05	Unclassified	BrainSpLMD|256356;Eurexp|euxassay_001871|olfactory, submandibular gland primordium	
U1	RHOBTB3	0.370683611	1.72E-05	GTPase	BrainSpLMD|22836;Eurexp|euxassay_004272|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|607353
U1	PIGK	0.90903277	1.75E-05	Cysteine protease	BrainSpLMD|10026	OMIM|605087
U1	PNO1	0.987111742	1.84E-05	Unclassified	BrainSpLMD|56902;Eurexp|euxassay_003781|axial muscle, fundus region, hindgut, left lung, mantle layer, midgut, oesophagus, orbito-sphenoid, rectum, right lung, stomach, submandibular gland primordium, thymus primordium, urethra	
U1	DCHS1	0.292147907	1.92E-05	Adhesion molecule	BrainSpLMD|8642	OMIM|603057;HPO|8642|Age-dependent penetrance, Anal atresia, Anteriorly placed anus, Atresia of the external auditory canal, Autosomal dominant inheritance, Autosomal recessive inheritance, Blepharophimosis, Clinodactyly, Conductive hearing impairment, Congenital onset, Cortical gyral simplification, Cutaneous finger syndactyly, Dental malocclusion, Downturned corners of mouth, Epicanthus, Feeding difficulties, Generalized hypotonia, Growth delay, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypospadias, Intellectual disability, Irregular dentition, Joint laxity, Malar flattening, Micrognathia, Microtia, Midface retrusion, Mitral regurgitation, Mitral valve prolapse, Narrow chest, Narrow forehead, Osteopenia, Pachygyria, Ptosis, Renal hypoplasia, Sacral dimple, Scoliosis, Sensorineural hearing impairment, Short 4th metacarpal, Short clavicles, Short fourth metatarsal, Short palpebral fissure, Skeletal dysplasia, Talipes equinovarus, Tented upper lip vermilion, Tracheomalacia, Wide anterior fontanel, Wide cranial sutures, Wide nasal bridge
U1	APTX	0.31365545	1.92E-05	DNA repair protein	BrainSpLMD|54840	OMIM|606350;HPO|54840|Adult onset, Areflexia, Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cognitive impairment, Decreased number of large peripheral myelinated nerve fibers, Dementia, Distal amyotrophy, Distal sensory impairment, Dysarthria, Dystonia, Gait ataxia, Gait disturbance, Gaze-evoked nystagmus, Hypercholesterolemia, Hypoalbuminemia, Hypometric saccades, Hyporeflexia, Juvenile onset, Limb ataxia, Medial flaring of the eyebrow, Muscle weakness, Oculomotor apraxia, Peripheral axonal degeneration, Peripheral neuropathy, Pes cavus, Progressive external ophthalmoplegia, Scoliosis, Tremor, Truncal ataxia
U1	RABEPK	0.463858248	1.99E-05	Transport/cargo protein	BrainSpLMD|10244	OMIM|605962
U1	TWSG1	0.541431174	2.00E-05	Secreted polypeptide	BrainSpLMD|57045	OMIM|605049
U1	MPZL1	0.456687655	2.06E-05	Unclassified	BrainSpLMD|9019	OMIM|604376
U1	SLC35C2	0.44460923	2.12E-05	Membrane transport protein	BrainSpLMD|51006	
U1	TMED7	0.960843191	2.18E-05	Unclassified		
U1	ZNF436	1.44066529	2.29E-05	DNA binding protein	BrainSpLMD|80818;Eurexp|euxassay_011962|dorsal root ganglion, mantle layer, trigeminal V, vagus X;BrainSpMouseDev|22461	OMIM|611703
U1	MRPL17	0.582195574	2.31E-05	Ribosomal subunit	BrainSpLMD|63875;Eurexp|euxassay_010706|axial skeleton, clavicle, liver, mandible, maxilla, orbito-sphenoid, rib, submandibular gland primordium, thymus primordium, turbinate bones	OMIM|611830
U1	GAB1	0.617980782	2.46E-05	Adapter molecule	BrainSpLMD|2549	OMIM|604439
U1	GANAB	0.408671438	2.60E-05	Enzyme: Hydrolase	BrainSpLMD|23193	OMIM|104160;HPO|23193|Autosomal dominant inheritance, Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia, Variable expressivity
U1	C3orf58	0.350265675	2.64E-05	Unclassified	BrainSpLMD|205428	SFARI||Autism, 4 - Minimal evidence;OMIM|612200
U1	LRRC42	0.647485259	2.69E-05	Unclassified	BrainSpLMD|115353;Eurexp|euxassay_000277|Meckel's cartilage, cranium, dorsal root ganglion, molar, ventral grey horn	
U1	RP11.490H24.5	0.528432414	2.71E-05			
U1	NDEL1	1.08979793	2.76E-05	Cell cycle control protein	BrainSpLMD|81565;Eurexp|euxassay_012621|clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, olfactory, orbito-sphenoid, trigeminal V, ventral grey horn, vomeronasal organ;BrainSpMouseDev|57675	OMIM|607538
U1	NADK2	0.337092898	2.81E-05	Unclassified	BrainSpLMD|133686	OMIM|615787;HPO|133686|Autosomal recessive inheritance, Cerebral atrophy, Choreoathetosis, Cortical visual impairment, Death in infancy, Decreased plasma free carnitine, Dystonia, Encephalopathy, Failure to thrive, Global developmental delay, Hyperlysinemia, Leukodystrophy, Microcephaly, Muscular hypotonia, Neonatal hypotonia, Nystagmus, Seizures, Spasticity, Tetraplegia, Ventriculomegaly
U1	SERPINB6	0.907349911	2.81E-05	Protease inhibitor	BrainSpLMD|5269;Eurexp|euxassay_012500|adrenal gland, aorta, diaphragm, dorsal root ganglion, epithelium, eyelid, facial VII, glossopharyngeal IX, hindgut, incisor, left lung, mantle layer, mesenchyme, midgut, naris, naso-lacrimal duct, ovary, rectum, right lung, submandibular gland primordium, testis, thymus primordium, trachea, trigeminal V, umbilical artery, vagus X, ventral grey horn	OMIM|173321;HPO|5269|Autosomal recessive inheritance, Progressive hearing impairment
U1	CASC10	0.573786218	2.88E-05	Unclassified		
U1	DLG1	0.376501131	2.90E-05	Cell junction protein	BrainSpLMD|1739;Eurexp|euxassay_005262|adrenal gland, lung	SFARI||Autism, No category;OMIM|601014
U1	ISYNA1	1.132383329	3.11E-05	Enzyme: Isomerase	BrainSpLMD|51477	OMIM|611670
U1	SIRT1	0.699967627	3.26E-05	Enzyme: Deacetylase	BrainSpLMD|23411	OMIM|604479
U1	MKNK1	0.764722218	3.38E-05	Serine/threonine kinase	Eurexp|euxassay_018735|lobe, pancreas, thymus primordium	OMIM|606724
U1	SCAF11	0.422374668	3.41E-05	RNA binding protein	BrainSpLMD|9169;Eurexp|euxassay_014100|ventricle, ventricular layer	OMIM|603668
U1	RLIM	0.819686181	3.46E-05	Transcription regulatory protein	BrainSpLMD|51132;Eurexp|euxassay_006673|embryo	SFARI||Autism, No category;OMIM|300379;HPO|51132|Behavioral abnormality, Broad forehead, Cryptorchidism, Feeding difficulties, Fine hair, Global developmental delay, Hypertelorism, Intellectual disability, Microcephaly, Micrognathia, Poor speech, Prominent nose, Wide nasal bridge, X-linked recessive inheritance
U1	CTA.228A9.3	0.611996782	3.78E-05			
U1	PLXNA3	0.894748824	3.82E-05	Cytoskeletal associated protein	BrainSpLMD|55558;BrainSpMouseDev|18610	SFARI||Autism, 4 - Minimal evidence;OMIM|300022
U1	GLO1	0.521870451	4.09E-05	Enzyme: Lyase	BrainSpLMD|2739	SFARI||Autism, 4 - Minimal evidence;OMIM|138750
U1	AZI2	0.556929236	4.30E-05	Unclassified	BrainSpLMD|64343	OMIM|609916
U1	TSPAN31	1.178914184	4.80E-05	Cell cycle control protein	BrainSpLMD|6302;BrainSpMouseDev|42968	OMIM|181035
U1	SENP5	0.2577175	4.82E-05	Protease	BrainSpLMD|205564;Eurexp|euxassay_002886|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X	OMIM|612845
U1	GNG10	0.720098099	4.89E-05	GTPase	Eurexp|euxassay_003816|alimentary system, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|604389
U1	PGRMC1	0.639576781	4.94E-05	Cell surface receptor	BrainSpLMD|10857;Eurexp|euxassay_018260|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X	OMIM|300435
U1	RIOK1	0.553634017	5.01E-05	Unclassified	BrainSpLMD|83732	OMIM|617753
U1	IMPACT	0.474736316	5.16E-05	Unclassified	BrainSpLMD|55364	OMIM|615319
U1	CCS	0.689093865	5.19E-05	Chaperone	BrainSpLMD|9973	OMIM|603864
U1	MYBBP1A	0.349891721	5.51E-05	Transcription regulatory protein	BrainSpLMD|10514;Eurexp|euxassay_019545|axial muscle, clavicle, hindgut, incisor, liver, lung, mandible, marginal layer, maxilla, metanephros, midgut, molar, olfactory, orbito-sphenoid, pancreas, stomach, submandibular gland primordium, testis, thymus primordium, urethra, ventricular layer, vibrissa;BrainSpMouseDev|18199	OMIM|604885
U1	DNAJB9	1.05667057	5.93E-05	Chaperone	BrainSpLMD|4189	OMIM|602634
U1	HMOX2	0.271249078	6.03E-05	Enzyme: Oxygenase	BrainSpLMD|3163;Eurexp|euxassay_003408|dorsal root ganglion, glossopharyngeal IX, incisor, lung, molar, olfactory, orbito-sphenoid, respiratory, submandibular gland primordium, thymus primordium, trigeminal V	OMIM|141251
U1	CCDC6	0.753784826	6.28E-05	Unclassified;Cell cycle control protein	BrainSpLMD|8030	OMIM|601985;COSMIC||papillary thyroid, CML, NSCLC;HPO|8030|Autosomal dominant inheritance, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma
U1	VCP	0.563727729	6.38E-05	ATPase	BrainSpLMD|7415	OMIM|601023;HPO|7415|Abnormal brain FDG positron emission tomography, Abnormal nerve conduction velocity, Abnormality of pelvic girdle bone morphology, Abnormality of the cerebral white matter, Absent Achilles reflex, Aggressive behavior, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apraxia, Arthralgia, Autosomal dominant inheritance, Babinski sign, Back pain, Collectionism, Depressivity, Difficulty climbing stairs, Disinhibition, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, Dyspnea, Dystonia, EEG with continuous slow activity, EMG: neuropathic changes, Echolalia, Elevated alkaline phosphatase, Elevated alkaline phosphatase of bone origin, Elevated serum creatine phosphokinase, Emotional blunting, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontal cortical atrophy, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait disturbance, Gait imbalance, Generalized muscle weakness, Grammar-specific speech disorder, Hammertoe, Hip pain, Hyperorality, Impaired vibration sensation in the lower limbs, Inappropriate behavior, Irritability, Lack of insight, Limb fasciculations, Limb muscle weakness, Loss of speech, Lower limb hyperreflexia, Lumbar hyperlordosis, Memory impairment, Muscle cramps, Muscle weakness, Myopathy, Neurodegeneration, Pain, Paralysis, Pelvic girdle amyotrophy, Pelvic girdle muscle atrophy, Pelvic girdle muscle weakness, Perseveration, Personality changes, Pes cavus, Poor speech, Progressive, Proximal muscle weakness, Respiratory failure, Restlessness, Restrictive behavior, Rimmed vacuoles, Scapular winging, Shoulder girdle muscle atrophy, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Spastic gait, Spastic paraplegia, Spasticity, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold, Tongue fasciculations, Variable expressivity, Xerostomia
U1	FAM206A	0.852793218	6.56E-05	Unclassified	BrainSpLMD|54942	
U1	SLC10A1	0.930618181	6.59E-05	Membrane transport protein	BrainSpLMD|6554	OMIM|182396
U1	APPBP2	0.275800845	6.63E-05	Adapter molecule	BrainSpLMD|10513	OMIM|605324
U1	EIF3J.AS1	0.782345303	6.72E-05			
U1	EEF1A1P19	1.446902471	6.83E-05			
U1	CPNE8	0.569564285	6.85E-05	Unclassified	BrainSpLMD|144402	
U1	TIMM23B	1.141519009	6.92E-05		Eurexp|euxassay_002670|basal plate, incisor, molar, orbito-sphenoid, submandibular gland primordium, ventral grey horn, ventricular layer	
U1	METAP2	0.461113786	7.30E-05	Translation regulatory protein	BrainSpLMD|10988	OMIM|601870
U1	TMEM168	0.782345608	7.40E-05	Unclassified	BrainSpLMD|64418;Eurexp|euxassay_008135|ventricle	
U1	AHCY	0.547261116	7.59E-05	Enzyme: Hydrolase	BrainSpLMD|191;Eurexp|euxassay_008402|embryo	OMIM|180960;HPO|191|Abnormal facial shape, Abnormality of the dentition, Autosomal recessive inheritance, Cardiomyopathy, Failure to thrive, Global developmental delay, Hypermethioninemia, Intellectual disability, Motor delay
U1	PSMD4	0.414393175	7.74E-05	Ubiquitin proteasome system protein	BrainSpLMD|5710	OMIM|601648
U1	RAP2C	0.653237193	7.79E-05	GTPase	BrainSpLMD|57826	
U1	MXD1	0.255459719	7.90E-05	Transcription regulatory protein	BrainSpLMD|4084;BrainSpMouseDev|16889	OMIM|600021
U1	UTP20	0.306130773	8.56E-05	Unclassified	BrainSpLMD|27340	OMIM|612822
U1	PDGFA	0.345257623	9.00E-05	Growth factor	Eurexp|euxassay_004036|anterior, axial skeleton, calyces, choroid invagination, choroid plexus, conjunctival sac, diaphragm, epidermis, epithelium, external, footplate, handplate, incisor, left lung, midgut, molar, naso-lacrimal duct, olfactory, oral epithelium, orbito-sphenoid, paraxial mesenchyme, pharyngo-tympanic tube, posterior, primitive seminiferous tubules, rest of mesenchyme, right lung, roof plate, skeletal muscle, stomach, submandibular gland primordium, thymus primordium, trachea, urethra, vertebral axis muscle system, vibrissa, vomeronasal organ;BrainSpMouseDev|18356	OMIM|173430
U1	GTF2H2	0.816706997	9.11E-05	Transcription factor	Eurexp|euxassay_019537|incisor, liver, lung, metanephros, midgut, pancreas, submandibular gland primordium, thymus primordium, vibrissa	OMIM|601748
U1	ZBTB10	0.699425241	9.20E-05	Transcription regulatory protein	BrainSpLMD|65986	
U1	CREB3	0.776179496	9.28E-05	Transcription factor	BrainSpLMD|10488;Eurexp|euxassay_004843|clavicle, dorsal root ganglion, glossopharyngeal IX, mandible, maxilla, medulla, orbito-sphenoid, rib, trigeminal V;BrainSpMouseDev|12696	OMIM|606443
U1	NRBF2	0.627209294	9.33E-05	Transcription regulatory protein	BrainSpLMD|29982	OMIM|616477
U1	IBA57	0.390133656	9.34E-05	Unclassified		OMIM|615316;HPO|200205|Abnormality of mitochondrial metabolism, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Babinski sign, Cerebral atrophy, Congenital onset, Distal sensory impairment, Encephalopathy, High palate, Hypoplasia of the corpus callosum, Intrauterine growth retardation, Lactic acidosis, Metabolic acidosis, Microcephaly, Optic atrophy, Peripheral axonal neuropathy, Polyhydramnios, Polymicrogyria, Retrognathia, Severe muscular hypotonia, Slow progression, Spastic paraplegia, Visual field defect, Visual impairment, Wide intermamillary distance
U1	RPN1	0.657305614	9.68E-05	Ubiquitin proteasome system protein	BrainSpLMD|6184;Eurexp|euxassay_003116|chondrocranium	OMIM|180470;COSMIC||AML
U1	SLITRK1	0.465372447	9.70E-05	Integral membrane protein	BrainSpLMD|114798;Eurexp|euxassay_012158|axial skeleton, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, rib, skeletal muscle, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|52805	OMIM|609678;HPO|114798|Aggressive behavior, Alopecia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Echolalia, Hair-pulling, Motor tics, Multifactorial inheritance, Obsessive-compulsive behavior, Phonic tics, Self-mutilation, Sleep disturbance
U1	BFAR	0.361177857	9.88E-05	Regulatory/other subunit	BrainSpLMD|51283	
U1	SRSF5	0.454906	9.94E-05	RNA binding protein	BrainSpLMD|6430	OMIM|600914
U1	ELOVL5	0.750621444	0.000100669	Unclassified	BrainSpLMD|60481	OMIM|611805;HPO|60481|Autosomal dominant inheritance, Cerebellar atrophy, Dysarthria, Gait ataxia, Limb ataxia, Nystagmus, Slow progression, Slow saccadic eye movements
U1	PTS	0.291081566	0.000105115	Enzyme: Synthase	BrainSpLMD|5805	OMIM|612719;HPO|5805|Ataxia, Autosomal recessive inheritance, Bradykinesia, Choreoathetosis, Dysphagia, Dystonia, Episodic fever, Excessive daytime somnolence, Excessive salivation, Global developmental delay, Hyperphenylalaninemia, Hyperreflexia, Infantile onset, Intellectual disability, progressive, Irritability, Microcephaly, Muscular hypotonia, Muscular hypotonia of the trunk, Opisthotonus, Parkinsonism, Poor suck, Progressive neurologic deterioration, Rigidity, Seizures, Small for gestational age, Tremor
U1	SRP54	0.29672726	0.000112993	RNA binding protein	BrainSpLMD|6729;Eurexp|euxassay_013249|embryo	OMIM|604857
U1	TPM3	0.528019826	0.000113652	Cytoskeletal associated protein;Structural protein	BrainSpLMD|7170	OMIM|191030;COSMIC||papillary thyroid, ALCL, NSCLC, Spitzoid tumour;HPO|7170|Autosomal dominant inheritance, Autosomal recessive inheritance, Bulbar palsy, Centrally nucleated skeletal muscle fibers, Congenital onset, Decreased fetal movement, Dilated cardiomyopathy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Dysphagia, EMG: myopathic abnormalities, Facial diplegia, Facial palsy, Failure to thrive, Feeding difficulties, Flexion contracture, Generalized muscle weakness, Heterogeneous, High palate, Juvenile onset, Long face, Lumbar hyperlordosis, Motor delay, Muscular hypotonia, Myopathy, Narrow face, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Pectus excavatum, Pes cavus, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Reduced tendon reflexes, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scoliosis, Shoulder girdle muscle atrophy, Type 1 fibers relatively smaller than type 2 fibers, Variable expressivity, Weak cry
U1	SAV1	0.658044645	0.000118334	Transcription regulatory protein	BrainSpLMD|60485	OMIM|607203
U1	ZNF264	0.593352183	0.000121018	Transcription regulatory protein	BrainSpLMD|9422	OMIM|604668
U1	SNCAIP	0.310480445	0.000121309	Unclassified	BrainSpLMD|9627	OMIM|603779;HPO|9627|Bradykinesia, Constipation, Dementia, Depressivity, Dysarthria, Dysphagia, Dystonia, Insidious onset, Lewy bodies, Mask-like facies, Neuronal loss in central nervous system, Parkinsonism, Personality changes, Postural instability, Progressive, Resting tremor, Rigidity, Short stepped shuffling gait, Sleep disturbance, Sporadic, Substantia nigra gliosis, Urinary urgency, Weak voice
U1	TAF12	0.954999127	0.000126093	Transcription factor	BrainSpLMD|6883	OMIM|600773
U1	SCUBE3	0.790499371	0.000126378	Cell surface receptor	BrainSpLMD|222663	OMIM|614708
U1	EIF3I	0.459967811	0.000136735	Translation regulatory protein	BrainSpLMD|8668;Eurexp|euxassay_008278|embryo	OMIM|603911
U1	TMEM67	0.371491969	0.000138882	Unclassified	BrainSpLMD|91147	OMIM|609884;HPO|91147|Anemia, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Blindness, Breathing dysregulation, Cataract, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cirrhosis, Cleft palate, Coloboma, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Elevated hepatic transaminases, Elongated superior cerebellar peduncle, Encephalocele, Enlarged fossa interpeduncularis, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Heterogeneous, Hyperreflexia, Hypertelorism, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intrahepatic biliary atresia, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Multiple small medullary renal cysts, Muscular hypotonia, Nephronophthisis, Nephropathy, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic nerve coloboma, Polydactyly, Polydipsia, Polyuria, Portal hypertension, Postaxial foot polydactyly, Postaxial hand polydactyly, Ptosis, Renal corticomedullary cysts, Renal insufficiency, Retinal degeneration, Round face, Sclerocornea, Sloping forehead, Spasticity, Splenomegaly, Stage 5 chronic kidney disease, Talipes, Thickened superior cerebellar peduncle, Tubular atrophy, Tubular basement membrane disintegration, Visual impairment, Wide mouth
U1	STX18	0.871285726	0.000139376	Membrane transport protein	BrainSpLMD|53407;Eurexp|euxassay_003103|incisor, limb, molar, skin	OMIM|606046
U1	ANXA7	0.53177245	0.000145142	Calcium binding protein	BrainSpLMD|310	OMIM|186360
U1	EIF3L	0.316464825	0.000145567	Translation regulatory protein	BrainSpLMD|51386;Eurexp|euxassay_001532|thymus primordium	
U1	WASF3	0.474547094	0.000147232	Cytoskeletal associated protein	BrainSpLMD|10810;Eurexp|euxassay_003179|adrenal gland, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, spinal cord, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|605068
U1	PPP1CC	0.442298832	0.000152232	Serine/threonine phosphatase	BrainSpLMD|5501	OMIM|176914
U1	LMAN2	0.624903449	0.00015449	Transport/cargo protein	BrainSpLMD|10960	OMIM|609551
U1	HNRNPA1P7	0.42878297	0.000159993			
U1	NASP	0.30207278	0.000160563	Cell cycle control protein	BrainSpLMD|4678;Eurexp|euxassay_016401|marginal layer, metanephros, ventricular layer	OMIM|603185
U1	YARS	0.485093374	0.000162729	Enzyme: Ligase	BrainSpLMD|8565	OMIM|603623;HPO|8565|Abnormality of the foot, Autosomal dominant inheritance, Axonal regeneration, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Upper limb muscle weakness
U1	GCLM	1.004753464	0.000166535	Enzyme: Ligase	BrainSpLMD|2730;Eurexp|euxassay_018515|left, right	OMIM|601176
U1	PMM2	0.292538386	0.000166628	Enzyme: Mutase	BrainSpLMD|5373	OMIM|601785;HPO|5373|Abnormal subcutaneous fat tissue distribution, Abnormality of the amniotic fluid, Ataxia, Autosomal recessive inheritance, Cardiomyopathy, Depressed nasal bridge, Diarrhea, Elevated hepatic transaminases, Esotropia, Failure to thrive, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism, Hypoalbuminemia, Hypocholesterolemia, Hyporeflexia, Hypothyroidism, IgA deficiency, IgG deficiency, Inverted nipples, Kyphosis, Macrotia, Microcephaly, Muscle weakness, Nephrotic syndrome, Nonimmune hydrops fetalis, Nystagmus, Olivopontocerebellar hypoplasia, Osteopenia, Pericardial effusion, Polyneuropathy, Premature ovarian insufficiency, Prolonged partial thromboplastin time, Prolonged prothrombin time, Prominent forehead, Proteinuria, Proximal tubulopathy, Reduced antithrombin III activity, Reduced factor XI activity, Renal cyst, Rod-cone dystrophy, Seizures, Stroke-like episode, Thin upper lip vermilion, Thrombocytosis, Type I transferrin isoform profile, Vomiting
U1	PKP4	0.410559019	0.000167171	Cell junction protein	BrainSpLMD|8502	OMIM|604276
U1	POLG2	0.832682282	0.000167849	DNA polymerase	BrainSpLMD|11232	OMIM|604983;HPO|11232|Adult onset, Arrhythmia, Autosomal dominant inheritance, Cytochrome C oxidase-negative muscle fibers, Elevated serum creatine phosphokinase, Exercise intolerance, Facial palsy, Glucose intolerance, Increased serum lactate, Limb muscle weakness, Multiple mitochondrial DNA deletions, Myalgia, Progressive, Progressive external ophthalmoplegia, Progressive muscle weakness, Ptosis, Variable expressivity
U1	MAGI2.AS3	0.324907162	0.00017146			
U1	MAP3K1	0.663792121	0.00017264	Serine/threonine kinase	Eurexp|euxassay_011095|calyces, incisor, larynx, mantle layer, molar, naris, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, renal/urinary system, sublingual gland primordium, submandibular gland primordium, thyroid, vibrissa	OMIM|600982;COSMIC||luminal A breast, 46, XY sex reversal 6;HPO|4214|Abnormal sex determination, Abnormality of the labia, Abnormality of the scrotum, Ambiguous genitalia, Autosomal dominant inheritance, Azoospermia, Chordee, Clitoral hypertrophy, Cryptorchidism, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Dysgerminoma, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,XY karyotype, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hypergonadotropic hypogonadism, Hypogonadotrophic hypogonadism, Hypoplasia of the vagina, Hypospadias, Male infertility, Male pseudohermaphroditism, Micropenis, Osteoporosis, Polycystic ovaries, Primary amenorrhea, Sex reversal, Sparse axillary hair, Sparse pubic hair, Streak ovary, Testicular dysgenesis, Urogenital sinus anomaly, Vanishing testis
U1	CLIC4	0.445986618	0.000173381	Intracellular ligand gated channel	BrainSpLMD|25932	OMIM|606536
U1	MAML2	1.403609456	0.000174399	Transcription regulatory protein	BrainSpLMD|84441	OMIM|607537;COSMIC||salivary gland mucoepidermoid
U1	NELL2	0.69653457	0.000175497	Calcium binding protein	BrainSpLMD|4753;Eurexp|euxassay_010538|axial skeleton, brachial plexus, dorsal root ganglion, footplate, handplate, head mesenchyme, incisor, mantle layer, marginal layer, mesenchyme, mesentery, molar, neural retina, olfactory, paraxial mesenchyme, perioptic mesenchyme, peritoneal cavity, rib, ventricular layer	OMIM|602320
U1	HMBS	0.916041201	0.000177481	Enzyme: Synthase	BrainSpLMD|3145;Eurexp|euxassay_002165|lobe	OMIM|609806;HPO|3145|Abdominal pain, Abnormal urinary color, Acute episodes of neuropathic symptoms, Anorexia, Anxiety, Arrhythmia, Autosomal dominant inheritance, Constipation, Depressivity, Diarrhea, Dysuria, Elevated urinary delta-aminolevulinic acid, Hepatocellular carcinoma, Hyperhidrosis, Hypertension, Hypertensive crisis, Insomnia, Muscle weakness, Myalgia, Nausea, Nausea and vomiting, Paralytic ileus, Paresthesia, Psychotic episodes, Respiratory paralysis, Seizures, Tachycardia, Urinary incontinence, Urinary retention, Vomiting
U1	ASCC3	0.971551791	0.000198417	Unclassified	BrainSpLMD|10973	OMIM|614217
U1	LINC00998	0.557531163	0.000200955			
U1	TRIQK	0.362807578	0.000201586			
U1	RWDD2B	0.702912105	0.000214624	Unclassified;Enzyme: Phosphatase	BrainSpLMD|10069	
U1	COG6	0.362446561	0.000214761	Structural protein	BrainSpLMD|57511	OMIM|606977;HPO|57511|Autosomal recessive inheritance, Carious teeth, Congenital onset, Death in infancy, Delayed speech and language development, Failure to thrive, Global developmental delay, Hypohidrosis, Hypoplasia of dental enamel, Intellectual disability, Loss of consciousness, Microcephaly, Palmoplantar hyperkeratosis, Seizures, Type II transferrin isoform profile
U1	BUD31	0.569440325	0.00021902	Transcription regulatory protein	BrainSpLMD|8896	OMIM|603477
U1	EPS8	0.305546696	0.000219403	Adapter molecule	BrainSpLMD|2059;Eurexp|euxassay_004434|adrenal gland, lung, mantle layer, marginal layer, mesenchyme, metanephros, midgut, nasal septum, pancreas, rectum, testis, thymus primordium, turbinate bones	SFARI||Autism, No category;OMIM|600206;HPO|2059|Autosomal recessive inheritance, Congenital onset, Profound hearing impairment
U1	ATP1A1	0.598032517	0.000219569	ATPase	BrainSpLMD|476;BrainSpMouseDev|11714	OMIM|182310;COSMIC||adrenal aldosterone producing adenoma
U1	POLD2	0.399923541	0.00022105	DNA polymerase	BrainSpLMD|5425	OMIM|600815
U1	ATP6AP2	0.448577837	0.000228815	Cell surface receptor	BrainSpLMD|10159	OMIM|300556;HPO|10159|Action tremor, Agraphesthesia, Astereognosia, Autosomal recessive inheritance, Babinski sign, Bradykinesia, Cerebellar atrophy, Cerebral atrophy, Cogwheel rigidity, Delayed speech and language development, Gait disturbance, Generalized tonic-clonic seizures, Hypomimic face, Hypoplasia of the corpus callosum, Hyporeflexia, Infantile onset, Intellectual disability, Motor delay, Parkinsonism, Resting tremor, Slow progression, Variable expressivity, X-linked recessive inheritance
U1	GALNT11	0.281515919	0.000245746	Enzyme: Galactosyltransferase	BrainSpLMD|63917	OMIM|615130
U1	GOLPH3	0.326213388	0.000248231	Transport/cargo protein	BrainSpLMD|64083	OMIM|612207
U1	GALC	0.538170062	0.000253954	Enzyme: Hydrolase	BrainSpLMD|2581	OMIM|606890;HPO|2581|Abnormal flash visual evoked potentials, Autoimmune thrombocytopenia, Autosomal recessive inheritance, Blindness, CNS demyelination, Decerebrate rigidity, Decreased nerve conduction velocity, Developmental regression, Diffuse cerebral atrophy, EEG abnormality, Episodic fever, Failure to thrive, Hearing impairment, Hydrocephalus, Hyperactive deep tendon reflexes, Hypertonia, Increased CSF protein, Motor deterioration, Muscular hypotonia, Neurodegeneration, Nystagmus, Optic atrophy, Peripheral demyelination, Progressive spasticity, Seizures, Sensorimotor neuropathy, Vomiting
U1	LRRC41	0.446056251	0.000258546	Adapter molecule	BrainSpLMD|10489	
U1	C16orf72	0.252629545	0.000258699	Unclassified	BrainSpLMD|29035	
U1	DESI2	0.479224258	0.000259189	Unclassified	BrainSpLMD|51029	OMIM|614638
U1	TMEM9	0.437666643	0.000261193	Integral membrane protein	BrainSpLMD|252839;Eurexp|euxassay_003611|choroid plexus, incisor, lateral recess, molar	OMIM|616877
U1	RP11.778D9.4	0.497151618	0.000280152			
U1	FAM120A	0.596456851	0.000280194	Unclassified	BrainSpLMD|23196	OMIM|612265
U1	FUT11	0.560999236	0.000281112	Enzyme: Fucosyltransferase		OMIM|616932
U1	LITAF	0.260607431	0.000288414	Transcription factor	BrainSpLMD|9516;Eurexp|euxassay_013657|axial skeleton, incisor, molar, submandibular gland primordium, urethra, ventricular layer, vestibular component, vibrissa	OMIM|603795;HPO|9516|Autosomal dominant inheritance, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Juvenile onset, Onion bulb formation, Pes cavus, Segmental peripheral demyelination/remyelination
U1	XPNPEP1	0.774632477	0.000295239	Aminopeptidase	BrainSpLMD|7511	OMIM|602443
U1	MED29	0.758983726	0.000301611	Transcription regulatory protein	BrainSpLMD|55588	OMIM|612914
U1	GALM	0.727110383	0.000302889	Enzyme: Epimerase	BrainSpLMD|130589;Eurexp|euxassay_000580|olfactory	OMIM|137030
U1	SH3PXD2B	1.228264123	0.00030632	Unclassified	BrainSpLMD|285590;Eurexp|euxassay_014164|clavicle, mandible, mantle layer, maxilla, orbito-sphenoid, palatal shelf	OMIM|613293;HPO|285590|Abnormality of the metacarpal bones, Acne, Anterior concavity of thoracic vertebrae, Aseptic necrosis, Autosomal recessive inheritance, Beaking of vertebral bodies, Bowing of the long bones, Brachydactyly, Broad clavicles, Broad forehead, Broad nasal tip, Buphthalmos, Camptodactyly of finger, Clinodactyly of the 5th finger, Coarse facial features, Cortical irregularity, Deeply set eye, Delayed cranial suture closure, Delayed eruption of teeth, Dental malocclusion, Depressed nasal bridge, Downslanted palpebral fissures, Flared metaphysis, Flat occiput, Full cheeks, Genu recurvatum, Gingival overgrowth, Growth delay, High forehead, High palate, Hip dysplasia, Hypertelorism, Joint stiffness, Kyphosis, Large eyes, Low-set ears, Mandibular prognathia, Metatarsus adductus, Micrognathia, Mitral valve prolapse, Osteolysis, Osteopenia, Osteoporosis, Pectus excavatum, Premature loss of teeth, Prominent coccyx, Prominent forehead, Proptosis, Protruding ear, Scoliosis, Short long bone, Short phalanx of finger, Short philtrum, Talipes equinovarus, Thick vermilion border, Thickened skin, Wide anterior fontanel, Wide mouth, Wide nasal bridge, Wormian bones
U1	COPS6	0.398839743	0.000308291	Cell cycle control protein	BrainSpLMD|10980	OMIM|614729
U1	KLF3.AS1	0.886085364	0.000308526			
U1	DPY19L3	0.334788695	0.00031452	Unclassified	BrainSpLMD|147991	OMIM|613894
U1	TFDP1	0.57457447	0.000331387	Transcription factor	BrainSpLMD|7027;BrainSpMouseDev|21540	OMIM|189902
U1	HSD17B10	0.608424548	0.000337389	Enzyme: Dehydrogenase	BrainSpLMD|3028	OMIM|300256;HPO|3028|Abnormality of movement, Aggressive behavior, Agitation, Arachnodactyly, Behavioral abnormality, Broad-based gait, Cerebral cortical atrophy, Choreoathetosis, Delayed speech and language development, Developmental regression, Dysarthria, Generalized hypotonia, Global developmental delay, Hallucinations, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Infantile axial hypotonia, Infantile onset, Intellectual disability, Lactic acidosis, Lumbar hyperlordosis, Metabolic acidosis, Motor delay, Nystagmus, Optic atrophy, Phenotypic variability, Progressive neurologic deterioration, Psychosis, Retinal degeneration, Seizures, Sensorineural hearing impairment, Spastic tetraplegia, Spasticity, Visual loss, X-linked dominant inheritance, X-linked recessive inheritance
U1	RP11.351I24.3	0.277383649	0.000347801			
U1	USP16	0.271012741	0.000349967	Ubiquitin proteasome system protein	BrainSpLMD|10600	OMIM|604735
U1	TMEM230	0.468637035	0.000356209	Integral membrane protein	BrainSpLMD|29058	OMIM|617019
U1	MIA3	0.497142133	0.000358871	Unclassified	Eurexp|euxassay_011320|olfactory, vomeronasal organ	OMIM|613455
U1	ACTR10	0.310057409	0.000366194	Cytoskeletal associated protein	BrainSpLMD|55860	
U1	ALG11	0.5513697	0.000375402	Unclassified	BrainSpLMD|440138	OMIM|613666;HPO|440138|Absent speech, Autosomal recessive inheritance, Feeding difficulties, Global developmental delay, Infantile onset, Neonatal hypotonia, Opisthotonus, Seizures, Strabismus, Temperature instability, Type I transferrin isoform profile, Vomiting
U1	TMEM208	0.627442971	0.000388554	Integral membrane protein	BrainSpLMD|29100	
U1	NCOA3	0.631359955	0.000393501	Transcription regulatory protein	BrainSpLMD|8202;BrainSpMouseDev|17746	OMIM|601937
U1	BBS9	0.661544384	0.000400726	Unclassified	BrainSpLMD|27241;Eurexp|euxassay_003475|3rd ventricle, 4th ventricle, adenohypophysis, cervical, cervico-thoracic, choroid invagination, choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, naris, neural retina, olfactory, pharyngo-tympanic tube, respiratory, stroma, thoracic, trigeminal V, vagus X	OMIM|607968;HPO|27241|Abnormal electroretinogram, Autosomal recessive inheritance, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Multicystic kidney dysplasia, Nystagmus, Obesity, Pigmentary retinopathy, Polydactyly, Postaxial hand polydactyly, Rod-cone dystrophy, Short stature, Variable expressivity
U1	SNX9	0.493567593	0.000404662	Adapter molecule	BrainSpLMD|51429;Eurexp|euxassay_012283|molar	OMIM|605952
U1	WDR1	0.330564557	0.000436309	Unclassified	BrainSpLMD|9948	OMIM|604734
U1	ITGAV	0.284533089	0.000488258	Cell surface receptor	BrainSpLMD|3685;Eurexp|euxassay_009584|brain, calyces, incisor, mandible, maxilla, mesenchyme, midgut, molar, spinal cord, stomach, submandibular gland primordium, ventricular layer;BrainSpMouseDev|16183	OMIM|193210;COSMIC||large intestine carcinoma
U1	ANKRD44	0.441936488	0.000491838	Unclassified	BrainSpLMD|91526	
U1	TM9SF4	0.320876324	0.000495093	Integral membrane protein	BrainSpLMD|9777	OMIM|617727
U1	CUL3	0.541216188	0.000518479	Ubiquitin proteasome system protein	BrainSpLMD|8452	SFARI||Autism, 1 - High confidence;OMIM|603136;COSMIC||lung cancer;HPO|8452|Autosomal dominant inheritance, Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia, Hypertension, Metabolic acidosis, Pseudohypoaldosteronism
U1	GSTK1	0.599898757	0.000532806	Enzyme: Glutathione transferase	BrainSpLMD|373156	OMIM|602321
U1	PDXDC1	0.465695821	0.00053592	Enzyme: Decarboxylase		OMIM|614244
U1	NCAM2	0.304782735	0.000538051	Adhesion molecule	BrainSpLMD|4685;BrainSpMouseDev|17735	OMIM|602040
U1	EIF2A	0.30318341	0.000573407	Translation regulatory protein	BrainSpLMD|83939	OMIM|609234
U1	ZNF706	0.31285464	0.000582506	DNA binding protein	BrainSpLMD|51123	
U1	RNU1.27P	0.260005048	0.000587938			
U1	LSM14A	0.549714548	0.000590481	Unclassified	BrainSpLMD|26065	OMIM|610677;COSMIC||Spitzoid tumour
U1	PNRC2	0.718680245	0.000614434	Ligand	Eurexp|euxassay_002876|thymus primordium, ventricular layer	OMIM|611882
U1	OSER1	0.461345524	0.000616156	Unclassified	BrainSpLMD|51526	
U1	TRNAU1AP	0.679554316	0.000629413	RNA binding protein	BrainSpLMD|54952;Eurexp|euxassay_006810|embryo	
U1	HADHA	0.265158817	0.00063262	Enzyme: Dehydrogenase	BrainSpLMD|3030	OMIM|600890;HPO|3030|Abnormality of the amniotic fluid, Autosomal recessive inheritance, Cardiomyopathy, Congestive heart failure, Decreased activity of 3-hydroxyacyl-CoA dehydrogenase, Dilated cardiomyopathy, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Generalized muscle weakness, Global developmental delay, Hepatomegaly, Hydrops fetalis, Hyperammonemia, Hypoglycemia, Hypoketotic hypoglycemia, Lactic acidosis, Muscular hypotonia, Myalgia, Myoglobinuria, Peripheral neuropathy, Pigmentary retinopathy, Prenatal maternal abnormality, Respiratory failure, Rhabdomyolysis, Small for gestational age, Sudden death
U1	RNF7	0.36171598	0.000638786	Enzyme: Ligase	BrainSpLMD|9616	OMIM|603863
U1	ATF7	0.568343075	0.000641923	Transcription factor	BrainSpLMD|11016	OMIM|606371
U1	THOC7	0.526625974	0.000642642	Unclassified	BrainSpLMD|80145;Eurexp|euxassay_012036|submandibular gland primordium, ventricular layer, vibrissa	OMIM|611965
U1	MRPL3	0.411025394	0.000660228	Ribosomal subunit	BrainSpLMD|11222	OMIM|607118;HPO|11222|Autosomal recessive inheritance, Dyspnea, Elevated hepatic transaminases, Failure to thrive, Feeding difficulties, Global developmental delay, Hepatomegaly, Hyperalaninemia, Hypertrophic cardiomyopathy, Increased serum lactate
U1	RHOQ	0.488367732	0.000689287	GTPase		OMIM|605857
U1	PSMA1	0.600936658	0.000739149	Protease	BrainSpLMD|5682;Eurexp|euxassay_013664|clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, mandible, metanephros, midgut, molar, naris, neural retina, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, submandibular gland primordium, testis, thymus primordium, thyroid, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|602854
U1	SLC39A11	0.940890865	0.000741993	Membrane transport protein	BrainSpLMD|201266	SFARI||Autism, No category;OMIM|616508
U1	NBEAL1	0.75898293	0.000838215	Unclassified	BrainSpLMD|65065	OMIM|609816
U1	NT5DC3	0.747624951	0.00084572	Unclassified	BrainSpLMD|51559	OMIM|611076
U1	NECAB1	0.358983124	0.000866175	Calcium binding protein	BrainSpLMD|64168;Eurexp|euxassay_005971|embryo	
U1	FLCN	0.498448768	0.00087237	Unclassified	BrainSpLMD|201163	OMIM|607273;COSMIC||renal, fibrofolliculomas, trichodiscomas;HPO|201163|Abnormal renal morphology, Abnormality of abdomen morphology, Abnormality of retinal pigmentation, Abnormality of the cardiovascular system, Abnormality of the hair, Abnormality of the pleura, Autism, Autosomal dominant inheritance, Broad forehead, Delayed myelination, Dental crowding, Dental malocclusion, Downslanted palpebral fissures, Dysphasia, EEG abnormality, Echolalia, Emphysema, Expressive language delay, Failure to thrive, Feeding difficulties in infancy, Fibrofolliculoma, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hearing impairment, Hereditary nonpolyposis colorectal carcinoma, High palate, Hyperactivity, Hypermetropia, Hypertelorism, Hypocholesterolemia, Hypoplasia of the corpus callosum, Incomplete penetrance, Intellectual disability, mild, Language impairment, Mandibular prognathia, Microcephaly, Micrognathia, Multiple lipomas, Neoplasm of the stomach, Oral-pharyngeal dysphagia, Papule, Patent foramen ovale, Phenotypic variability, Pneumothorax, Poor eye contact, Prominent nasal tip, Pulmonary sequestration, Receptive language delay, Renal cell carcinoma, Renal cyst, Scoliosis, Seizures, Short stature, Skin tags, Sleep apnea, Small for gestational age, Smooth philtrum, Spontaneous pneumothorax, Sporadic, Stereotypy, Transitional cell carcinoma of the bladder, Triangular face, Trigonocephaly, Uterine leiomyosarcoma, Wide mouth
U1	WDR61	0.292894955	0.000886049	Unclassified	BrainSpLMD|80349	OMIM|609540
U1	CHURC1	0.391512147	0.000892698	Transcription regulatory protein	BrainSpLMD|91612;Eurexp|euxassay_011573|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|84269	OMIM|608577
U1	LDLR	0.257781738	0.00089286	Cell surface receptor	BrainSpLMD|3949;Eurexp|euxassay_010458|adrenal gland, cervical, cervico-thoracic, clavicle, hindgut, incisor, mandible, maxilla, metanephros, midgut, orbito-sphenoid, otic capsule, rib, submandibular gland primordium, thoracic, turbinate, ventral grey horn	OMIM|606945;HPO|3949|Abnormality of internal carotid artery, Angina pectoris, Aortic atherosclerosis, Autosomal dominant inheritance, Cerebral artery atherosclerosis, Corneal arcus, Coronary atherosclerosis, Dyspnea, Heart murmur, Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia, Hypertension, Increased circulating low-density lipoprotein levels, Left ventricular failure, Myocardial infarction, Myocardial steatosis, Peripheral arterial stenosis, Precocious atherosclerosis, Premature arteriosclerosis, Premature coronary artery disease, Renal artery stenosis, Sudden cardiac death, Xanthelasma
U1	RSRP1	0.396068536	0.000953048	Unclassified	BrainSpLMD|57035	
U1	GABPB2	0.346835216	0.000996771	Unclassified	BrainSpLMD|126626	
U1	TTN	0.528350528	0.001069627	Structural protein;Enzyme: Phosphotransferase	BrainSpLMD|7273;Eurexp|euxassay_012439|atrium, diaphragm, extrinsic ocular muscle, footplate, mesenchyme, rest of mesenchyme, skeletal muscle, tarsus, ventricle, vertebral axis muscle system	SFARI||Autism, 4 - Minimal evidence;OMIM|188840;HPO|7273|Adult onset, Arrhythmia, Autosomal dominant inheritance, Autosomal recessive inheritance, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Childhood onset, Congenital onset, Diaphragmatic weakness, Dilated cardiomyopathy, Distal muscle weakness, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Facial palsy, Flexion contracture, Foot dorsiflexor weakness, Generalized muscle weakness, Hypertrophic cardiomyopathy, Incomplete penetrance, Infantile onset, Motor delay, Muscular dystrophy, Myopathy, Neck flexor weakness, Proximal muscle weakness, Ptosis, Rimmed vacuoles, Scoliosis, Slow progression, Steppage gait, Sudden death
U1	SH3BGRL	0.276848219	0.001079555	Unclassified	BrainSpLMD|6451	OMIM|300190
U1	TXN2	0.423428799	0.001137807	Enzyme: Oxidoreductase	BrainSpLMD|25828	OMIM|609063;HPO|25828|Autosomal recessive inheritance, Axonal degeneration, Cerebellar atrophy, Congenital onset, Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex III, Delayed CNS myelination, Dystonia, Feeding difficulties, Generalized hypotonia, Global brain atrophy, Global developmental delay, Increased CSF lactate, Increased CSF protein, Increased serum lactate, Infantile onset, Microcephaly, Optic atrophy, Optic neuropathy, Peripheral neuropathy, Progressive, Retinopathy, Seizures, Spasticity, Subependymal cysts
U1	SF3B1	0.277392654	0.001164518	RNA binding protein	BrainSpLMD|23451	OMIM|605590;COSMIC||myelodysplastic syndrome;HPO|23451|Choroidal melanoma, Ciliary body melanoma, Iris melanoma, Myelodysplasia, Retinal detachment, Somatic mutation, Visual loss
U1	ARL2	0.763723541	0.001166392	GTPase		OMIM|601175
U1	MRPS15	0.597374047	0.001180578	Ribosomal subunit	BrainSpLMD|64960;Eurexp|euxassay_002880|basal plate, dorsal root ganglion, submandibular gland primordium, trigeminal V	OMIM|611979
U1	ERLIN2	0.585094486	0.001186414	Unclassified	BrainSpLMD|11160	OMIM|611605;HPO|11160|Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Absent speech, Autosomal recessive inheritance, Babinski sign, Dysphagia, Gait disturbance, Gait imbalance, High palate, Hyperreflexia, Kyphosis, Loss of speech, Lower limb muscle weakness, Muscle weakness, Pes cavus, Progressive, Pseudobulbar behavioral symptoms, Scoliosis, Skeletal muscle atrophy, Slow progression, Spastic dysarthria, Spastic gait, Spastic paraplegia, Spastic tetraparesis, Strabismus, Upper limb spasticity
U1	EIF3LP2	0.290687785	0.001227252			
U1	SEL1L	0.388223622	0.001240479	Integral membrane protein	BrainSpLMD|6400;BrainSpMouseDev|20101	OMIM|602329
U1	PAPSS1	0.579495688	0.001245417	Enzyme: Synthase	BrainSpLMD|9061	OMIM|603262
U1	SRP19	0.28533255	0.001253214	RNA binding protein	BrainSpLMD|6728	OMIM|182175
U1	HIAT1	0.636920594	0.001259592			
U1	HEATR5A	1.121765551	0.001305957	Unclassified	BrainSpLMD|25938;Eurexp|euxassay_011074|glossopharyngeal IX, mantle layer, neural retina, trigeminal V, ventricle	
U1	PPP2CA	0.364830678	0.001317181	Serine/threonine phosphatase	BrainSpLMD|5515	OMIM|176915
U1	IFT57	0.988461651	0.001331761	Unclassified	BrainSpLMD|55081	OMIM|606621
U1	PHB	0.539747423	0.001362434	Adapter molecule	BrainSpLMD|5245	SFARI||Autism, 3 - Suggestive evidence;OMIM|176705
U1	PTPN11	0.436925067	0.001393277	Tyrosine phosphatase	BrainSpLMD|5781	SFARI||Autism, 4 - Minimal evidence;OMIM|176876;COSMIC||JMML, AML, MDS, Noonan Syndrome;HPO|5781|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal joint morphology, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of the pulmonary artery, Abnormality of the spleen, Amegakaryocytic thrombocytopenia, Aplasia of the ovary, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Atrioventricular canal defect, Autosomal dominant inheritance, Bowing of the long bones, Brachydactyly, Bundle branch block, Cafe-au-lait spot, Cleft palate, Clinodactyly, Coarctation of aorta, Coarse hair, Cryptorchidism, Cubitus valgus, Cystic hygroma, Decreased fertility, Delayed menarche, Delayed puberty, Delayed skeletal maturation, Dental malocclusion, Depressed nasal ridge, Downslanted palpebral fissures, Dysarthria, Enlarged thorax, Epicanthus, Failure to thrive in infancy, Feeding difficulties in infancy, Freckling, Hepatomegaly, Heterogeneous, High forehead, High palate, High, narrow palate, Hyperextensible skin, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadotrophic hypogonadism, Hypoplasia of the ovary, Hyposmia, Hypospadias, Intellectual disability, mild, Intrauterine growth retardation, Joint hyperflexibility, Juvenile myelomonocytic leukemia, Kyphoscoliosis, Limited elbow movement, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Lymphedema, Male infertility, Mandibular prognathia, Melanocytic nevus, Micrognathia, Micropenis, Midface retrusion, Missing ribs, Mitral valve prolapse, Multiple digital exostoses, Multiple enchondromatosis, Multiple lentigines, Muscle weakness, Muscular hypotonia, Myopia, Neurofibrosarcoma, Parietal bossing, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pectus excavatum of inferior sternum, Posteriorly rotated ears, Postnatal growth retardation, Proptosis, Protruding ear, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Radial deviation of finger, Reduced factor XII activity, Reduced factor XIII activity, Scapular winging, Scoliosis, Sensorineural hearing impairment, Severe sensorineural hearing impairment, Shield chest, Short neck, Short stature, Somatic mutation, Spina bifida occulta, Sprengel anomaly, Strabismus, Subvalvular aortic stenosis, Superior pectus carinatum, Synovitis, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Third degree atrioventricular block, Triangular face, Unilateral renal agenesis, Ventricular septal defect, Webbed neck, Wide intermamillary distance, Wide nasal bridge
U1	DNAJC21	0.716514363	0.001549649	DNA binding protein	BrainSpLMD|134218	OMIM|617048;HPO|134218|Abnormality of skin pigmentation, Abnormality of the metaphysis, Anemia, Autosomal recessive inheritance, Bone marrow hypocellularity, Delayed skeletal maturation, Eczema, Exocrine pancreatic insufficiency, Failure to thrive, Generalized hypotonia, Global developmental delay, Hyperkeratosis, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Malabsorption, Neutropenia, Osteopenia, Pancytopenia, Recurrent infections, Short stature, Thrombocytopenia
U1	RBM7	0.457055081	0.001593305	RNA binding protein	BrainSpLMD|10179	OMIM|612413
U1	GGCX	0.954508168	0.001599994	Enzyme: Carboxylase	BrainSpLMD|2677	OMIM|137167;HPO|2677|Abnormal bleeding, Abnormality of coagulation, Abnormality of the optic nerve, Absent retinal pigment epithelium, Angioid streaks of the retina, Atherosclerosis, Attenuation of retinal blood vessels, Autosomal recessive inheritance, Bruising susceptibility, Cutis laxa, Epiphyseal stippling, Epistaxis, Increased number of skin folds, Joint hemorrhage, Nyctalopia, Papule, Prolonged partial thromboplastin time, Reduced factor IX activity, Reduced factor VII activity, Reduced factor X activity, Reduced prothrombin activity, Redundant skin, Rod-cone dystrophy, Short distal phalanx of finger, Short nose, Strabismus
U1	COG7	0.886229952	0.001609733	Structural protein	BrainSpLMD|91949	OMIM|606978;HPO|91949|Abnormality of immune system physiology, Hypertrophic cardiomyopathy, Muscular hypotonia
U1	WBP11	0.328188059	0.00162394	RNA binding protein	BrainSpLMD|51729	
U1	HBP1	0.611191132	0.001654683	Transcription factor	BrainSpLMD|26959;BrainSpMouseDev|49230	OMIM|616714
U1	SUMF2	0.786414111	0.001681799	Unclassified	BrainSpLMD|25870	OMIM|607940
U1	HECTD2	0.594155372	0.001774946	Ubiquitin proteasome system protein	BrainSpLMD|143279	
U1	VPS54	0.327910647	0.001783567	Transport/cargo protein	BrainSpLMD|51542	OMIM|614633
U1	ADSL	0.289791711	0.001851103	Enzyme: Lyase	BrainSpLMD|158	SFARI||Autism, No category;OMIM|608222;HPO|158|Abnormal facial shape, Absent speech, Aggressive behavior, Anteverted nares, Autism, Autosomal recessive inheritance, Brachycephaly, Brisk reflexes, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Cerebral hypomyelination, Delayed speech and language development, Flat occiput, Gait ataxia, Generalized hypotonia, Global developmental delay, Growth delay, Hyperactivity, Hypointensity of cerebral white matter on MRI, Inability to walk, Inappropriate laughter, Infantile onset, Intellectual disability, Long philtrum, Low-set ears, Microcephaly, Myoclonus, Nystagmus, Opisthotonus, Poor eye contact, Prominent metopic ridge, Seizures, Self-mutilation, Severe global developmental delay, Short nose, Skeletal muscle atrophy, Smooth philtrum, Strabismus, Thin upper lip vermilion, Wide mouth
U1	RAI14	0.350481071	0.001898298	Unclassified	BrainSpLMD|26064;Eurexp|euxassay_015953|axial muscle, clavicle, floor plate, floorplate, incisor, lung, mandible, maxilla, metanephros, orbito-sphenoid, palatal shelf, penis, physiological umbilical hernia, rib, roof plate, turbinate, ventricular layer	OMIM|606586
U1	PSMD7	0.476193926	0.001922337	Ubiquitin proteasome system protein	BrainSpLMD|5713	OMIM|157970
U1	SLC39A9	0.411197491	0.001932438	Membrane transport protein	BrainSpLMD|55334	
U1	CLDND1	0.281258293	0.001957627	Unclassified	BrainSpLMD|56650;Eurexp|euxassay_006238|embryo	
U1	INTS3	0.833100513	0.001970337	Unclassified	BrainSpLMD|65123;Eurexp|euxassay_006847|embryo	OMIM|611347
U1	HECA	0.375950226	0.002000297	Unclassified	BrainSpLMD|51696	OMIM|607977
U1	ZNHIT6	0.472417293	0.002024555	Unclassified	BrainSpLMD|54680	
U1	MED8	0.490324936	0.002058016	Transcription regulatory protein	BrainSpLMD|112950	OMIM|607956
U1	ATXN1L	1.053059091	0.002152061	Unclassified		OMIM|614301
U1	HAX1	0.254149408	0.002158749	Unclassified	BrainSpLMD|10456	OMIM|605998;HPO|10456|Autosomal recessive inheritance, Infantile onset, Leukemia, Myelodysplasia, Neutropenia, Recurrent bacterial infections
U1	TUG1	0.29202302	0.002188538		BrainSpLMD|55000	OMIM|614971
U1	SRBD1	0.880304057	0.002226746	Unclassified	BrainSpLMD|55133;Eurexp|euxassay_009989|olfactory, thymus primordium	
U1	MED31	0.709638815	0.002236678	Transcription regulatory protein	BrainSpLMD|51003	
U1	ANKRD17	0.390739895	0.002242038	Unclassified	BrainSpLMD|26057	OMIM|615929
U1	TFRC	0.309195537	0.002312393	Membrane transport protein	BrainSpLMD|7037;Eurexp|euxassay_005557|left, left lung, meninges, midgut, right, right lung, stomach, submandibular gland primordium	OMIM|190010;COSMIC||NHL;HPO|7037|Autosomal recessive inheritance, Decreased antibody level in blood, Neutropenia
U1	EBNA1BP2	0.429649672	0.002341399	Unclassified	BrainSpLMD|10969	OMIM|614443
U1	CEP112	0.776943157	0.002359081	Unclassified	BrainSpLMD|201134	
U1	ZNF140	0.679618888	0.002494341	DNA binding protein	BrainSpLMD|7699	OMIM|604082
U1	ZFYVE16	0.721084685	0.002510477	Membrane transport protein	BrainSpLMD|9765	OMIM|608880
U1	PLEKHJ1	0.28537983	0.002655607	Guanine nucleotide exchange factor	BrainSpLMD|55111	
U1	MOSPD2	0.739836727	0.002661081	Integral membrane protein	BrainSpLMD|158747;Eurexp|euxassay_014284|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate, vault of skull	
U1	SBDSP1	0.66775004	0.002678681			
U1	MTMR2	0.575109332	0.002792544	Enzyme: Phosphatase	BrainSpLMD|8898	OMIM|603557;HPO|8898|Abnormal auditory evoked potentials, Autosomal recessive inheritance, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Facial palsy, Heterogeneous, Irregular myelin loops, Motor delay, Proximal muscle weakness, Scoliosis, Talipes equinovarus
U1	MAP4	0.251315627	0.00281576	Cytoskeletal associated protein	BrainSpLMD|4134	OMIM|157132
U1	ATXN2L	0.482196214	0.002944173	Unclassified	BrainSpLMD|11273	OMIM|607931
U1	ACAA2	0.271440483	0.003060337	Enzyme: Acyltransferase	BrainSpLMD|10449;Eurexp|euxassay_018546|bladder, choroid invagination, choroid plexus, epidermis, epithelium, liver, oral epithelium, roof plate, vibrissa	OMIM|604770
U1	EXOSC1	0.556758901	0.003132285	Ribonuclease	BrainSpLMD|51013;Eurexp|euxassay_003018|submandibular gland primordium	OMIM|606493
U1	PAF1	0.568252443	0.003185128	Unclassified	BrainSpLMD|54623	OMIM|610506
U1	C16orf62	0.458147002	0.003334599	Unclassified	BrainSpLMD|57020	
U1	SNX1	0.681000272	0.003410944	Transport/cargo protein	BrainSpLMD|6642	OMIM|601272
U1	STK17B	0.325171239	0.003441384	Serine/threonine kinase	BrainSpLMD|9262	OMIM|604727
U1	EMC2	0.914544565	0.003956389	Unclassified	BrainSpLMD|9694	OMIM|607722
U1	RUFY1	0.392465356	0.003974005	Ubiquitin proteasome system protein	BrainSpLMD|80230	OMIM|610327
U1	WBP1L	0.591404809	0.004034161	Integral membrane protein	BrainSpLMD|54838;Eurexp|euxassay_007077|cortex	OMIM|611129
U1	CA12	0.472584487	0.004150185	Enzyme: Carbonic anhydrase	BrainSpLMD|771;Eurexp|euxassay_018906|choroid plexus, clavicle, epithelium, incisor, molar, nasal septum, olfactory, oral epithelium, submandibular gland primordium, vibrissa	OMIM|603263;HPO|771|Autosomal dominant inheritance, Autosomal recessive inheritance, Dehydration, Failure to thrive, Feeding difficulties, Hyperkalemia, Hyponatremia, Infantile onset
U1	IGF2R	0.944855616	0.004171482	Cell surface receptor	BrainSpLMD|3482;Eurexp|euxassay_001742|cardiovascular system, choroid plexus, gland, integumental system, sensory organ, visceral organ	OMIM|147280;HPO|3482|Autosomal dominant inheritance, Hepatocellular carcinoma, Heterogeneous, Micronodular cirrhosis, Somatic mutation, Subacute progressive viral hepatitis
U1	CCDC25	0.8652348	0.004212542	Unclassified	BrainSpLMD|55246	
U1	TMEM106C	0.516358037	0.004387749	Unclassified	BrainSpLMD|79022	
U1	PDK1	0.603476399	0.004467219	Enzyme: Phosphotransferase	BrainSpLMD|5163;Eurexp|euxassay_018748|axial skeleton, foregut-midgut junction, hindgut, incisor, mesenchyme, midgut, molar, orbito-sphenoid, rectum, stomach, thymus primordium, turbinate, urethra, ventricular layer, vibrissa	OMIM|602524
U1	CDC73	0.269529803	0.004556743	Unclassified	BrainSpLMD|79577	OMIM|607393;COSMIC||parathyroid adenoma, parathyroid adenoma, multiple ossifying jaw fibroma;HPO|79577|Autosomal dominant inheritance, Chondrocalcinosis, Dysphagia, Elevated circulating parathyroid hormone level, Fatigue, Fibroma, Generalized osteoporosis, Hoarse voice, Hypercalcemia, Hypercalciuria, Hyperparathyroidism, Hyperphosphaturia, Hypophosphatemia, Infantile hypercalcemia, Nephrocalcinosis, Nephrolithiasis, Osteopenia, Osteoporosis, Parathyroid adenoma, Parathyroid carcinoma, Polydipsia, Primary hyperparathyroidism, Shortened QT interval, Somatic mutation, Uterine leiomyoma, Weight loss
U1	MPP6	0.596368071	0.004615502	Unclassified	BrainSpLMD|51678	SFARI||Autism, No category;OMIM|606959
U1	OSBPL2	0.284616521	0.004625261	Transport/cargo protein	BrainSpLMD|9885	OMIM|606731;HPO|9885|Autosomal dominant inheritance, Phenotypic variability, Sensorineural hearing impairment, Tinnitus
U1	NAA50	0.84202419	0.004733762	Enzyme: Acyltransferase	BrainSpLMD|80218	OMIM|610834
U1	NDUFA10	0.263401068	0.004751497	Enzyme: Oxidoreductase	BrainSpLMD|4705	OMIM|603835;HPO|4705|Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
U1	SUMO3	0.289726097	0.004825718	Ubiquitin proteasome system protein	BrainSpLMD|6612	OMIM|602231
U1	MAEA	1.404404729	0.004944882	Adhesion molecule	BrainSpLMD|10296	OMIM|606801
U1	ICE1	0.376437337	0.004969406	Unclassified		
U1	LINC01278	0.402418595	0.005067819			
U1	SERPINE2	0.479598835	0.005256485	Protease inhibitor	BrainSpLMD|5270;Eurexp|euxassay_007870|axial skeleton, dorsal root ganglion, glossopharyngeal IX, incisor, lip, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metatarsus, nasal septum, penis, phalanx, skeletal muscle, sternum, thymus primordium, trigeminal V, turbinate bones, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|177010
U1	MEIS1	0.274441706	0.005339627	Transcription factor	BrainSpLMD|4211;Eurexp|euxassay_010373|cornea, epithelium, hindgut, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, respiratory, sublingual gland primordium, submandibular gland primordium, trachea, ventricular layer, vibrissa;BrainSpMouseDev|17037	OMIM|601739
U1	RECQL	0.47402531	0.005475169	DNA helicase	BrainSpLMD|5965	OMIM|600537
U1	LNPEP	0.3856805	0.005522258	Aminopeptidase	BrainSpLMD|4012	OMIM|151300
U1	AC093690.1	0.868352879	0.005867949			
U1	NCK1	0.35745379	0.006012798	Adapter molecule	BrainSpLMD|4690	OMIM|600508
U1	ACOT13	0.682999329	0.006045867	Enzyme: Hydrolase	BrainSpLMD|55856;Eurexp|euxassay_002960|chondrocranium, hindgut, midgut	OMIM|615652
U1	POLR2C	1.116338131	0.00605941	Transcription regulatory protein	BrainSpLMD|5432	OMIM|180663
U1	EIF5B	0.521519574	0.006146865	Translation regulatory protein	BrainSpLMD|9669	OMIM|606086
U1	ALG14	0.500384836	0.006186862	Unclassified	BrainSpLMD|199857	OMIM|612866;HPO|199857|Autosomal recessive inheritance, Frequent falls
U1	EGLN1	0.353782997	0.006305136	Ubiquitin proteasome system protein	BrainSpLMD|54583	OMIM|606425;HPO|54583|Autosomal dominant inheritance, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass
U1	DDX19A	0.651267743	0.006760832	Unclassified	Eurexp|euxassay_006953|embryo	
U1	INTS10	0.533693737	0.006821939	Unclassified	BrainSpLMD|55174;Eurexp|euxassay_001760|mantle layer, marginal layer	OMIM|611353
U1	ANKRD50	0.360802794	0.006844038	Unclassified	BrainSpLMD|57182	
U1	MAST4	0.701761101	0.006864676	Unclassified	BrainSpLMD|375449;Eurexp|euxassay_011099|mantle layer, marginal layer, thymus primordium, ventral grey horn	
U1	RP11.159D12.2	0.431121558	0.006919758			
U1	COPS2	0.300833245	0.006948794	Transcription regulatory protein	BrainSpLMD|9318	OMIM|604508
U1	BLZF1	0.437804292	0.007170108	Transcription regulatory protein	BrainSpLMD|8548	OMIM|608692
U1	GALT	0.677022033	0.007234705	Enzyme: Nucleotidyltransferase	BrainSpLMD|2592	OMIM|606999;HPO|2592|Abnormal bleeding, Abnormality of the ovary, Aminoaciduria, Autosomal recessive inheritance, Cataract, Cirrhosis, Decreased fertility in females, Decreased liver function, Diarrhea, Failure to thrive, Feeding difficulties, Galactosuria, Hemolytic anemia, Hepatic failure, Hepatomegaly, Hyperchloremic metabolic acidosis, Hypergalactosemia, Hypergonadotropic hypogonadism, Hypoglycemia, Impairment of galactose metabolism, Intellectual disability, Jaundice, Metabolic acidosis, Nausea and vomiting, Osteoporosis, Premature ovarian insufficiency, Speech apraxia, Speech articulation difficulties, Vomiting, Weight loss
U1	BLOC1S1	0.360553335	0.007303573	Enzyme: Acyltransferase	BrainSpLMD|2647	OMIM|601444
U1	GNE	0.547196442	0.007326978	Enzyme: Epimerase	BrainSpLMD|10020;Eurexp|euxassay_018552|lumen, rectum, submandibular gland primordium	OMIM|603824;HPO|10020|2-3 toe syndactyly, Abnormality of metabolism/homeostasis, Abnormality of the mitochondrion, Absent Achilles reflex, Adult onset, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Cholelithiasis, Coarse facial features, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal muscle weakness, Dysostosis multiplex, EMG: myopathic abnormalities, EMG: myotonic discharges, EMG: positive sharp waves, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Epicanthus, Episodic abdominal pain, Expressive language delay, Fatty replacement of skeletal muscle, Foot dorsiflexor weakness, Frontal bossing, Gait disturbance, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hepatosplenomegaly, High palate, High, narrow palate, Hip flexor weakness, Hoarse voice, Hyperkinesis, Hypertelorism, Hypoplastic nipples, Hypothyroidism, Increased variability in muscle fiber diameter, Inguinal hernia, Intellectual disability, mild, Joint hypermobility, Limb-girdle muscle atrophy, Limb-girdle muscle weakness, Limited shoulder movement, Limited wrist extension, Long hallux, Long philtrum, Low posterior hairline, Low-set ears, Memory impairment, Mildly elevated creatine phosphokinase, Muscle fiber inclusion bodies, Periorbital fullness, Prolonged partial thromboplastin time, Prolonged prothrombin time, Prominent forehead, Protuberant abdomen, Proximal muscle weakness, Rimmed vacuoles, Scoliosis, Seizures, Shoulder girdle muscle weakness, Sleep apnea, Smooth philtrum, Spinal deformities, Splenomegaly, Steppage gait, Synophrys, Thin upper lip vermilion, Thoracic hypoplasia, Tibialis muscle weakness, Upper airway obstruction, Wide nasal bridge
U1	ZNF516	0.286166436	0.007775703	DNA binding protein	BrainSpLMD|9658;Eurexp|euxassay_019569|metanephros, olfactory, pituitary, testis, ventricular layer, vomeronasal organ;BrainSpMouseDev|108583	OMIM|615114
U1	NDRG1	0.763260574	0.008043923	Unclassified	BrainSpLMD|10397;Eurexp|euxassay_004423|anterior, dorsal root ganglion, external, mandible, marginal layer, meninges, mesenchyme, midgut, naris, nasal septum, olfactory, palatal shelf, pyloric region, rectum, upper jaw	OMIM|605262;COSMIC||prostate;HPO|10397|Abnormal auditory evoked potentials, Abnormality of the hand, Abnormality of visual evoked potentials, Areflexia, Autosomal recessive inheritance, Axonal loss, Decreased nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Gait disturbance, Hearing impairment, Hyporeflexia, Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material, Juvenile onset, Onion bulb formation, Segmental peripheral demyelination/remyelination, Talipes cavus equinovarus
U1	METTL15	0.465296764	0.008408732	Enzyme: Methyltransferase	BrainSpLMD|196074	
U1	NPAS3	0.289557731	0.008697069	Transcription factor	BrainSpLMD|64067;Eurexp|euxassay_009424|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|27131	OMIM|609430
U1	PSMD5	0.560937645	0.008712021	Ubiquitin proteasome system protein	BrainSpLMD|5711	OMIM|604452
U1	HGSNAT	0.684727964	0.008995538	Transport/cargo protein	BrainSpLMD|138050	OMIM|610453;HPO|138050|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Asymmetric septal hypertrophy, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Cellular metachromasia, Coarse facial features, Coarse hair, Conductive hearing impairment, Constriction of peripheral visual field, Dense calvaria, Diarrhea, Dolichocephaly, Dysostosis multiplex, Dysphagia, Everted lower lip vermilion, Glaucoma, Growth abnormality, Hearing impairment, Heparan sulfate excretion in urine, Hepatomegaly, Hernia, Hirsutism, Hyperactivity, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Joint stiffness, Keratoconus, Kyphoscoliosis, Loss of speech, Motor delay, Motor deterioration, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Ovoid thoracolumbar vertebrae, Photophobia, Progressive night blindness, Recurrent upper respiratory tract infections, Retinal atrophy, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Sleep disturbance, Splenomegaly, Synophrys, Thickened ribs, Variable expressivity, Wide nasal bridge
U1	PSME4	0.302655125	0.00936472	Ubiquitin proteasome system protein	BrainSpLMD|23198;Eurexp|euxassay_009612|dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, maxilla, neural retina, olfactory, orbito-sphenoid, submandibular gland primordium, trigeminal V	OMIM|607705
Microglia	CCL3L3	6.554232755	0	Cytokine		OMIM|609468
Microglia	RGS1	6.466601481	0	GTPase activating protein	BrainSpLMD|5996	OMIM|600323
Microglia	CCL4	6.435353371	0	Chemokine	BrainSpLMD|6351	OMIM|182284
Microglia	C3	6.391333932	0	Complement protein	BrainSpLMD|718;Eurexp|euxassay_001854|lobe	OMIM|120700;HPO|718|Autosomal recessive inheritance, Decreased serum complement C3, Nephrotic syndrome, Recurrent bacterial infections, Renal insufficiency
Microglia	CCL3	6.372811917	0	Cytokine		OMIM|182283
Microglia	PLEK	6.270551166	0	Calcium binding protein	BrainSpLMD|5341	OMIM|173570
Microglia	FOLR2	6.127940676	0	Cell surface receptor	BrainSpLMD|2350	OMIM|136425
Microglia	ITGAX	6.059614636	0	Cell surface receptor	BrainSpLMD|3687	OMIM|151510
Microglia	SPP1	6.033398516	0	Adhesion molecule	BrainSpLMD|6696;Eurexp|euxassay_009250|pancreas, pectoral girdle and thoracic body wall;BrainSpMouseDev|20512	OMIM|166490
Microglia	CSF3R	6.002571894	0	Cytokine receptor	BrainSpLMD|1441	OMIM|138971;COSMIC||aCML, CNL, leukaemia lymphoma and MDS associated with severe congenital neutropenia, CMML, de novo AML, MDS, Kostmann syndrome, severe congenital neutropenia;HPO|1441|Autosomal dominant inheritance, Autosomal recessive inheritance, Elevated leukocyte alkaline phosphatase, Hepatosplenomegaly, Myelodysplasia, Neutropenia, Neutrophilia, Recurrent infections, Thickened calvaria
Microglia	BIN2	5.89750891	0	Adapter molecule	BrainSpLMD|51411;Eurexp|euxassay_014160|liver, thymus primordium	OMIM|605936
Microglia	CCL4L1	5.878606347	0	Chemokine		OMIM|603782
Microglia	DHRS9	5.843366418	0	Enzyme: Dehydrogenase	BrainSpLMD|10170	OMIM|612131
Microglia	CD74	5.836903725	0	MHC complex protein	BrainSpLMD|972;Eurexp|euxassay_001797|thymus primordium	OMIM|142790;COSMIC||NSCLC
Microglia	CD69	5.828623833	0	Cell surface receptor	BrainSpLMD|969	OMIM|107273
Microglia	IL1B	5.807410156	0	Cytokine	BrainSpLMD|3553	OMIM|147720
Microglia	CX3CR1	5.772650799	0	G protein coupled receptor	BrainSpLMD|1524;Eurexp|euxassay_006632|embryo	SFARI||Autism, 4 - Minimal evidence;OMIM|601470
Microglia	OLR1	5.769491637	0	Cell surface receptor	BrainSpLMD|4973	OMIM|602601
Microglia	CH25H	5.768216686	0	Enzyme: Hydroxylase	BrainSpLMD|9023	OMIM|604551
Microglia	FCGR2A	5.759801483	0	Cell surface receptor	BrainSpLMD|2212	OMIM|146790
Microglia	ADORA3	5.75674707	0	G protein coupled receptor	BrainSpLMD|140	SFARI||Autism, No category;OMIM|600445
Microglia	LAPTM5	5.747012813	0	Integral membrane protein	BrainSpLMD|7805	OMIM|601476
Microglia	P2RY12	5.745786746	0	G protein coupled receptor	BrainSpLMD|64805	OMIM|600515;HPO|64805|Autosomal recessive inheritance, Bruising susceptibility, Epistaxis, Impaired ADP-induced platelet aggregation, Persistent bleeding after trauma, Prolonged bleeding after surgery
Microglia	IRF8	5.719666408	0	Transcription factor	BrainSpLMD|3394	OMIM|601565;HPO|3394|Abnormality of immune system physiology, Autosomal dominant inheritance, Autosomal recessive inheritance, Failure to thrive, Fever, Immunodeficiency, Infantile onset, Lymphadenopathy, Recurrent infections
Microglia	CD84	5.686963318	0	Unclassified	BrainSpLMD|8832	OMIM|604513
Microglia	CXCL8	5.686458389	0	Cytokine	BrainSpLMD|3576	OMIM|146930
Microglia	CLEC7A	5.674225761	0	Cell surface receptor	BrainSpLMD|64581;Eurexp|euxassay_002996|hindgut, limb, midgut, stomach, ventral grey horn, vertebral axis muscle system;BrainSpMouseDev|35923	OMIM|606264;HPO|64581|Abnormal toenail morphology, Abnormality of the fingernails, Abnormality of the vagina, Autosomal recessive inheritance, Broad nail, Cheilitis, Dyspareunia, Erythema, Hyperkeratosis, Onychomycosis, Papule, Recurrent vulvovaginal candidiasis, Skin rash, Skin ulcer
Microglia	CSF1R	5.669944948	0	Receptor tyrosine kinase	BrainSpLMD|1436;Eurexp|euxassay_005275|embryo;BrainSpMouseDev|12761	OMIM|164770;COSMIC||MDS, CML, AML, hemangioblastoma, CCRCC, diffuse leukoencephalopathy with spheroids;HPO|1436|Abnormality of the cerebral white matter, Adult onset, Apraxia, Autosomal dominant inheritance, Bradykinesia, CNS demyelination, Depressivity, Frontal lobe dementia, Gliosis, Hyperreflexia, Leukoencephalopathy, Memory impairment, Mutism, Neuronal loss in central nervous system, Postural instability, Rapidly progressive, Rigidity, Shuffling gait, Spasticity
Microglia	TMEM52B	5.637863401	0	Unclassified	BrainSpLMD|120939;Eurexp|euxassay_012221|metanephros	
Microglia	CD36	5.56311742	0	Cell surface receptor	BrainSpLMD|948;Eurexp|euxassay_012019|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, orbito-sphenoid, radius, rib, scapula, temporal bone, tibia, turbinate, ulna	OMIM|173510;HPO|948|Abnormality of the endocrine system, Autosomal dominant inheritance, Autosomal recessive inheritance, Giant platelets, Prolonged bleeding time, Thrombocytopenia
Microglia	HMOX1	5.541623187	0	Enzyme: Oxygenase	BrainSpLMD|3162;Eurexp|euxassay_007745|brain, ganglion, liver, meninges, mesenchyme, spinal cord	OMIM|141250;HPO|3162|Autosomal recessive inheritance, Growth delay, Hematuria, Hemolytic anemia, Hepatomegaly, Proteinuria
Microglia	SAMSN1	5.516791557	0	Adapter molecule	BrainSpLMD|64092	OMIM|607978
Microglia	TLR4	5.491895013	0	Cell surface receptor	BrainSpLMD|7099	OMIM|603030;HPO|7099|Abdominal pain, Abnormal blistering of the skin, Acne, Arthralgia, Arthritis, Confusion, Fatigue, Fever, Gait disturbance, Gastrointestinal hemorrhage, Hemiparesis, Immunologic hypersensitivity, Meningitis, Migraine, Myalgia, Nausea and vomiting, Oral ulcer, Orchitis, Papule, Photophobia, Recurrent aphthous stomatitis, Subcutaneous nodule, Vasculitis, Venous thrombosis
Microglia	C1QB	5.491387423	0	Complement protein	BrainSpLMD|713;BrainSpMouseDev|12045	OMIM|120570;HPO|713|Autosomal recessive inheritance, Decreased serum complement factor I, Recurrent infections
Microglia	CSF2RA	5.482247302	0	Cytokine receptor		OMIM|425000
Microglia	CD53	5.436722716	0	T cell antigen receptor	BrainSpLMD|963;Eurexp|euxassay_008611|thymus primordium	OMIM|151525
Microglia	VSIG4	5.423678262	0	Complement receptor	BrainSpLMD|11326	SFARI||Autism, 4 - Minimal evidence;OMIM|300353
Microglia	BHLHE41	5.408265435	0	Transcription factor	BrainSpLMD|79365;Eurexp|euxassay_019485|adrenal gland, olfactory, palatal shelf, vibrissa;BrainSpMouseDev|55198	OMIM|606200
Microglia	C3AR1	5.386936249	0	G protein coupled receptor	BrainSpLMD|719	OMIM|605246
Microglia	LCP2	5.379311504	0	Adapter molecule	BrainSpLMD|3937;Eurexp|euxassay_003585|thymus primordium	OMIM|601603
Microglia	TREM2	5.374142319	0	Cell surface receptor	BrainSpLMD|54209;Eurexp|euxassay_006762|body-wall mesenchyme, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mesenchyme	OMIM|605086;HPO|54209|Abnormal brain FDG positron emission tomography, Abnormal upper motor neuron morphology, Abnormality of adipose tissue, Abnormality of epiphysis morphology, Abnormality of the cerebral white matter, Abnormality of the foot, Abnormality of the hand, Aggressive behavior, Agnosia, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apraxia, Arthralgia, Autosomal recessive inheritance, Axonal loss, Babinski sign, Basal ganglia calcification, Bone cyst, Bone pain, Caudate atrophy, Cerebral atrophy, Cerebral calcification, Cerebral cortical atrophy, Chorea, Collectionism, Depressivity, Developmental regression, Disinhibition, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, Dyspnea, EEG abnormality, EEG with continuous slow activity, Echolalia, Emotional blunting, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontal lobe dementia, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait disturbance, Generalized muscle weakness, Gliosis, Grammar-specific speech disorder, Hyperorality, Hypoplasia of the corpus callosum, Inappropriate behavior, Irritability, Lack of insight, Leukoencephalopathy, Limitation of joint mobility, Loss of speech, Memory impairment, Muscle cramps, Myoclonus, Neurodegeneration, Neurological speech impairment, Oculomotor apraxia, Pain, Paralysis, Pathologic fracture, Peripheral demyelination, Perseveration, Personality changes, Poor speech, Primitive reflex, Reduced bone mineral density, Respiratory failure, Restlessness, Restrictive behavior, Seizures, Skeletal dysplasia, Skeletal muscle atrophy, Spasticity, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold, Urinary incontinence, Ventriculomegaly, Xerostomia
Microglia	LY86	5.355305647	0	Adapter molecule	BrainSpLMD|9450;Eurexp|euxassay_011090|fibula, tibia	OMIM|605241
Microglia	CD83	5.354533219	0	Unclassified	BrainSpLMD|9308	OMIM|604534
Microglia	ATP8B4	5.348636664	0	ATPase	BrainSpLMD|79895	OMIM|609123
Microglia	FYB	5.34405554	0			
Microglia	IL6R	5.320748673	0	Cytokine receptor	BrainSpLMD|3570	OMIM|147880
Microglia	TAGAP	5.318092542	0	GTPase activating protein	BrainSpLMD|117289	OMIM|609667
Microglia	PTAFR	5.317921048	0	G protein coupled receptor	BrainSpLMD|5724	OMIM|173393
Microglia	MS4A7	5.30104978	0	Integral membrane protein	Eurexp|euxassay_012608|body-wall mesenchyme, mesenchyme	OMIM|606502
Microglia	CYTH4	5.280787844	0	Guanine nucleotide exchange factor	BrainSpLMD|27128	OMIM|606514
Microglia	ADAP2	5.243728293	0	GTPase activating protein	BrainSpLMD|55803	OMIM|608635
Microglia	ADAM28	5.243562366	0	Metallo protease	BrainSpLMD|10863;Eurexp|euxassay_005826|oesophagus, olfactory, respiratory, thymus primordium, trachea	OMIM|606188
Microglia	TYROBP	5.189246624	0	Cell surface receptor	BrainSpLMD|7305;Eurexp|euxassay_005681|embryo	OMIM|604142;HPO|7305|Abnormal upper motor neuron morphology, Abnormality of adipose tissue, Abnormality of epiphysis morphology, Abnormality of the foot, Abnormality of the hand, Aggressive behavior, Agnosia, Apraxia, Arthralgia, Autosomal recessive inheritance, Axonal loss, Babinski sign, Basal ganglia calcification, Bone cyst, Bone pain, Caudate atrophy, Cerebral atrophy, Cerebral calcification, Cerebral cortical atrophy, Chorea, Developmental regression, Disinhibition, EEG abnormality, Frontal lobe dementia, Gait disturbance, Gliosis, Hypoplasia of the corpus callosum, Irritability, Lack of insight, Leukoencephalopathy, Limitation of joint mobility, Memory impairment, Myoclonus, Neurological speech impairment, Oculomotor apraxia, Pathologic fracture, Peripheral demyelination, Personality changes, Primitive reflex, Reduced bone mineral density, Seizures, Skeletal dysplasia, Spasticity, Urinary incontinence, Ventriculomegaly
Microglia	ITGB2	5.182097758	0	Adhesion molecule	BrainSpLMD|3689	OMIM|600065;HPO|3689|Autosomal recessive inheritance, Gingivitis, Leukocytosis, Periodontitis, Rectal abscess, Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections
Microglia	FCER1G	5.165120478	0	Cell surface receptor	BrainSpLMD|2207	OMIM|147139
Microglia	MSR1	5.164581287	0	Cell surface receptor	BrainSpLMD|4481;Eurexp|euxassay_006507|embryo	SFARI||Autism, 4 - Minimal evidence;OMIM|153622;HPO|4481|Autosomal dominant inheritance, Barrett esophagus, Esophageal carcinoma, Prostate cancer, Somatic mutation
Microglia	APBB1IP	5.16435931	0	Adapter molecule	BrainSpLMD|54518;Eurexp|euxassay_003656|adenohypophysis, liver, molar, thymus primordium	OMIM|609036
Microglia	C5AR1	5.162281843	0	G protein coupled receptor	BrainSpLMD|728	OMIM|113995
Microglia	HAVCR2	5.150805515	0	Cell surface receptor	BrainSpLMD|84868	OMIM|606652
Microglia	C1QC	5.138081829	0	Complement protein	BrainSpLMD|714	OMIM|120575;HPO|714|Autosomal recessive inheritance, Decreased serum complement factor I, Recurrent infections
Microglia	RGS10	5.137451394	0	GTPase activating protein	BrainSpLMD|6001;BrainSpMouseDev|43708	OMIM|602856
Microglia	FCGR1A	5.122075982	0	Cell surface receptor	BrainSpLMD|2209	OMIM|146760
Microglia	BLNK	5.050884775	0	Adapter molecule	BrainSpLMD|29760;Eurexp|euxassay_002437|foregut-midgut junction, hindgut, midgut, olfactory	OMIM|604515;HPO|29760|Agammaglobulinemia, Arthritis, Autosomal recessive inheritance, Chronic otitis media, Chronic sinusitis, Conjunctivitis, Cough, Diarrhea, Failure to thrive, Fatigue, Fever, Immunodeficiency, Infantile onset, Neutropenia, Osteomyelitis, Recurrent bacterial infections, Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory infections, Recurrent skin infections, Sinusitis, Skin rash
Microglia	RHBDF2	5.043128834	0	Integral membrane protein	BrainSpLMD|79651	OMIM|614404;HPO|79651|Abnormality of the large intestine, Abnormality of the mediastinum, Abnormality of the mouth, Ascites, Autosomal dominant inheritance, Diffuse palmoplantar hyperkeratosis, Dysphagia, Esophageal carcinoma, Esophageal neoplasm, Gastroesophageal reflux, Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Palmoplantar keratoderma, Parakeratosis, Poor appetite, Poor suck, Weight loss
Microglia	SELPLG	5.029212527	0	Ligand	BrainSpLMD|6404;Eurexp|euxassay_004234|thymus primordium;BrainSpMouseDev|20108	OMIM|600738
Microglia	LCP1	5.02159651	0	Calcium binding protein	BrainSpLMD|3936;Eurexp|euxassay_007746|embryo, thymus primordium	OMIM|153430;COSMIC||NHL
Microglia	PTPRC	5.00789098	0	Receptor tyrosine phosphatase	BrainSpLMD|5788;Eurexp|euxassay_007819|embryo, thymus primordium;BrainSpMouseDev|19027	SFARI||Autism, No category;OMIM|151460;COSMIC||T-ALL;HPO|5788|Autosomal recessive inheritance, Decrease in T cell count, Diarrhea, Eczema, Failure to thrive secondary to recurrent infections, Hepatomegaly, Lymphadenopathy, Oral ulcer, Otitis media, Recurrent opportunistic infections, Severe combined immunodeficiency, Splenomegaly
Microglia	HCLS1	4.972729429	0	Unclassified	BrainSpLMD|3059;Eurexp|euxassay_006086|thymus primordium	OMIM|601306
Microglia	TLR7	4.958674546	0	Cell surface receptor	BrainSpLMD|51284	OMIM|300365
Microglia	P2RY13	4.957196188	0	G protein coupled receptor	BrainSpLMD|53829	OMIM|606380
Microglia	DOCK8	4.94632387	0	Guanine nucleotide exchange factor	BrainSpLMD|81704;Eurexp|euxassay_013103|thymus primordium	SFARI||Autism, 3 - Suggestive evidence;OMIM|611432;HPO|81704|Asthma, Atopic dermatitis, Autosomal dominant inheritance, Autosomal recessive inheritance, B lymphocytopenia, Cerebral vasculitis, Chronic otitis media, Decrease in T cell count, Delayed speech and language development, Eczema, Eosinophilia, Global developmental delay, Hemiplegia, Increased IgE level, Infantile onset, Intellectual disability, Neoplasm, Onychomycosis, Pneumonia, Recurrent bacterial infections, Recurrent bacterial skin infections, Recurrent candida infections, Recurrent fungal infections, Recurrent sinopulmonary infections, Recurrent sinusitis, Recurrent viral infections, Severe viral infections, Skin ulcer, Subarachnoid hemorrhage, Verrucae
Microglia	NLRP3	4.935587053	0	Unclassified	BrainSpLMD|114548	OMIM|606416;HPO|114548|Abdominal pain, Abnormality of neutrophils, Abnormality of the skin, Abnormality of thrombocytes, Anemia, Arthralgia, Arthritis, Autosomal dominant inheritance, Brachydactyly, Broad foot, Conjunctivitis, Cranial nerve paralysis, Delayed closure of the anterior fontanelle, Dysesthesia, Edema, Elevated C-reactive protein level, Elevated erythrocyte sedimentation rate, Episcleritis, Episodic fever, Erythema, Fatigue, Fever, Frontal bossing, Growth delay, Headache, Hearing impairment, Hepatomegaly, Hyperhidrosis, Increased intracranial pressure, Infantile onset, Joint dislocation, Leukocytosis, Lymphadenopathy, Macrocephaly, Meningitis, Migraine, Myalgia, Nausea and vomiting, Nephropathy, Nephrotic syndrome, Papule, Progressive sensorineural hearing impairment, Proptosis, Pruritus, Pseudopapilledema, Recurrent aphthous stomatitis, Renal amyloidosis, Renal insufficiency, Sensorineural hearing impairment, Skeletal dysplasia, Skin rash, Splenomegaly, Urticaria, Uveitis
Microglia	RNASE1	4.930264382	0	RNA binding protein;Ribonuclease	BrainSpLMD|6035	OMIM|180440
Microglia	C1QA	4.928863652	0	Complement protein	BrainSpLMD|712;BrainSpMouseDev|12044	OMIM|120550;HPO|712|Autosomal recessive inheritance, Decreased serum complement factor I, Recurrent infections
Microglia	ARHGAP25	4.910572002	0	GTPase activating protein	BrainSpLMD|9938;Eurexp|euxassay_007720|pharyngo-tympanic tube, vibrissa;BrainSpMouseDev|87385	OMIM|610587
Microglia	FCGR1B	4.890233941	0			OMIM|601502
Microglia	FPR1	4.863646411	0	G protein coupled receptor	BrainSpLMD|2357	OMIM|136537
Microglia	C10orf54	4.839529643	0			
Microglia	CD4	4.830978779	0	T cell antigen receptor	BrainSpLMD|920	OMIM|186940;HPO|920|Abnormal T cell morphology
Microglia	STAB1	4.824205587	0	Cell surface receptor	BrainSpLMD|23166;Eurexp|euxassay_011669|embryo	OMIM|608560
Microglia	CYBB	4.823854736	0	Enzyme: Oxidase	BrainSpLMD|1536;Eurexp|euxassay_018820|liver	OMIM|300481;HPO|1536|Abnormality of neutrophils, Absence of bactericidal oxidative 'respiratory burst' in phagocytes, Cellulitis, Chronic obstructive pulmonary disease, Cutaneous photosensitivity, Decreased activity of NADPH oxidase, Deficiency or absence of cytochrome b(-245), Discoid lupus rash, Eczematoid dermatitis, Fever, Granulomatosis, Hepatomegaly, Hypermelanotic macule, Juvenile onset, Liver abscess, Lymphadenitis, Lymphadenopathy, Malabsorption, Mediastinal lymphadenopathy, Negative nitroblue tetrazolium reduction test, Osteomyelitis, Otitis media, Pyloric stenosis, Rectal abscess, Recurrent Aspergillus infections, Recurrent Burkholderia cepacia infections, Recurrent E. coli infections, Recurrent Klebsiella infections, Recurrent Serratia marcescens infections, Recurrent Staphylococcus aureus infections, Recurrent bacterial skin infections, Recurrent mycobacterial infections, Recurrent pneumonia, Recurrent respiratory infections, Severe recurrent varicella, Sinusitis, Splenomegaly, Tracheoesophageal fistula, X-linked recessive inheritance
Microglia	PTGER4	4.820424113	0	G protein coupled receptor	BrainSpLMD|5734;Eurexp|euxassay_011300|valve	OMIM|601586
Microglia	SRGN	4.805956792	0	Extracellular matrix protein	BrainSpLMD|5552;Eurexp|euxassay_003087|dorsal grey horn, liver, lobe, mantle layer, thymus primordium	OMIM|177040
Microglia	BCL2A1	4.797872956	0	Adapter molecule	BrainSpLMD|597;Eurexp|euxassay_010322|clavicle, left lung, mandible, maxilla, right lung, thymus primordium, ventricle	OMIM|601056
Microglia	GPR183	4.79642322	0	G protein coupled receptor	BrainSpLMD|1880	OMIM|605741
Microglia	LAT2	4.790100173	0	Adapter molecule	BrainSpLMD|7462	OMIM|605719
Microglia	HSPA7	4.771051807	0			OMIM|140556
Microglia	HPGDS	4.763404615	0	Enzyme: Synthase	BrainSpLMD|27306	OMIM|602598
Microglia	CCL5	4.761012947	0	Chemokine	BrainSpLMD|6352	OMIM|187011
Microglia	SIGLEC8	4.704148313	0	Adhesion molecule	BrainSpLMD|27181	OMIM|605639
Microglia	FGD2	4.697944865	0	Guanine nucleotide exchange factor	BrainSpLMD|221472	OMIM|605091
Microglia	ITGAM	4.678940934	0	Cell surface receptor	BrainSpLMD|3684;BrainSpMouseDev|16182	OMIM|120980
Microglia	PTGS1	4.673813469	0	Enzyme: Oxygenase	BrainSpLMD|5742;Eurexp|euxassay_004892|cornea, left, nucleus pulposus, oesophagus, right	OMIM|176805
Microglia	CSF1	4.672553582	0	Cytokine	BrainSpLMD|1435;BrainSpMouseDev|12760	OMIM|120420
Microglia	INPP5D	4.660489419	0	Lipid phosphatase;Cytoskeletal associated protein	BrainSpLMD|3635;Eurexp|euxassay_011053|mandible, maxilla, rib	OMIM|601582
Microglia	NCKAP1L	4.64807241	0	Integral membrane protein	BrainSpLMD|3071	OMIM|141180
Microglia	NCF4	4.645643381	0	Regulatory/other subunit;Enzyme: Oxidase	BrainSpLMD|4689	OMIM|601488;HPO|4689|Abnormality of neutrophils, Autosomal recessive inheritance, Chronic obstructive pulmonary disease, Cutaneous photosensitivity, Diarrhea, Fever, Hepatomegaly, Hypermelanotic macule, Malabsorption, Mediastinal lymphadenopathy, Otitis media, Perioral eczema, Pyloric stenosis, Recurrent aphthous stomatitis, Recurrent respiratory infections, Recurrent sinusitis, Sinusitis, Tracheoesophageal fistula
Microglia	PTPN6	4.640913376	0	Tyrosine phosphatase	BrainSpLMD|5777;Eurexp|euxassay_006645|embryo, thymus primordium	OMIM|176883;COSMIC||DLBCL
Microglia	ALOX5AP	4.618317028	0	Integral membrane protein	BrainSpLMD|241;Eurexp|euxassay_017220|left, right, thymus primordium	SFARI||Autism, 5 - Hypothesized but untested;OMIM|603700
Microglia	CCR1	4.600804073	0	Cell surface receptor	BrainSpLMD|1230	OMIM|601159;HPO|1230|Abdominal pain, Abnormal blistering of the skin, Acne, Arthralgia, Arthritis, Confusion, Fatigue, Fever, Gait disturbance, Gastrointestinal hemorrhage, Hemiparesis, Immunologic hypersensitivity, Meningitis, Migraine, Myalgia, Nausea and vomiting, Oral ulcer, Orchitis, Papule, Photophobia, Recurrent aphthous stomatitis, Subcutaneous nodule, Vasculitis, Venous thrombosis
Microglia	TAL1	4.594416609	0	Transcription factor	BrainSpLMD|6886;Eurexp|euxassay_007171|left, mantle layer, right, ventral grey horn;BrainSpMouseDev|21110	OMIM|187040;COSMIC||lymphoblastic leukaemia/biphasic;HPO|6886|Acute lymphoblastic leukemia, Polygenic inheritance
Microglia	SLC2A5	4.592582511	0	Membrane transport protein	BrainSpLMD|6518	OMIM|138230
Microglia	KLHL6	4.582475767	0	Cytoskeletal associated protein	BrainSpLMD|89857;Eurexp|euxassay_011427|thymus primordium	OMIM|614214
Microglia	IGSF6	4.582450188	0	Immunoglobulin	BrainSpLMD|10261	OMIM|606222
Microglia	TMEM144	4.578740527	0	Membrane transport protein	BrainSpLMD|55314	
Microglia	SIGLEC10	4.571839668	0	Immunoglobulin;Adhesion molecule	BrainSpLMD|89790;Eurexp|euxassay_009151|thymus primordium	OMIM|606091
Microglia	AF127936.5	4.547912135	0			
Microglia	CXCL16	4.540875328	0	Adhesion molecule	BrainSpLMD|58191;Eurexp|euxassay_011494|meninges	OMIM|605398
Microglia	CD86	4.537972263	0	Cell surface receptor	BrainSpLMD|942	OMIM|601020
Microglia	SLCO2B1	4.53708953	0	Membrane transport protein	BrainSpLMD|11309	OMIM|604988
Microglia	DUSP2	4.534471717	0	Dual specificity phosphatase	BrainSpLMD|1844	OMIM|603068
Microglia	SCIN	4.533994361	0	Cytoskeletal associated protein	BrainSpLMD|85477	OMIM|613416
Microglia	LPCAT2	4.528964421	0	Unclassified	BrainSpLMD|54947	OMIM|612040
Microglia	PLAUR	4.522991262	0	Cell surface receptor	BrainSpLMD|5329	SFARI||Autism, No category;OMIM|173391
Microglia	IL1A	4.520614051	0	Cytokine	BrainSpLMD|3552	OMIM|147760
Microglia	FCGR3A	4.516345513	0	Cell surface receptor	BrainSpLMD|2214	OMIM|146740;HPO|2214|Autosomal recessive inheritance, Immunodeficiency, Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Sinusitis
Microglia	AOAH	4.507062067	0	Enzyme: Hydrolase	BrainSpLMD|313	OMIM|102593
Microglia	PRDM1	4.506893156	0	Transcription factor	BrainSpLMD|639;Eurexp|euxassay_009010|hindgut, midgut, vibrissa	OMIM|603423;COSMIC||DLBCL
Microglia	AC006129.2	4.498100785	0			
Microglia	RBM47	4.476264824	0	RNA binding protein	BrainSpLMD|54502;Eurexp|euxassay_004545|Meckel's cartilage, adrenal gland, bladder, calyces, choroid plexus, foregut-midgut junction, hindgut, lateral recess, loop, lung, midgut, olfactory, pancreas, pelvis, rectum, respiratory, stomach, submandibular gland primordium, thymus primordium, urethra	
Microglia	CD14	4.475411995	0	Cell surface receptor	BrainSpLMD|929	OMIM|158120
Microglia	PARVG	4.437801536	0	Cytoskeletal associated protein	BrainSpLMD|64098;Eurexp|euxassay_018533|liver, mesenchyme, thymus primordium	OMIM|608122
Microglia	MNDA	4.42836567	0	Transcription factor	BrainSpLMD|4332	OMIM|159553
Microglia	GPR34	4.420358175	0	G protein coupled receptor	BrainSpLMD|2857	OMIM|300241
Microglia	ACY3	4.418209201	0	Enzyme: Hydrolase	BrainSpLMD|91703;Eurexp|euxassay_011489|excretory component	OMIM|614413
Microglia	PIK3R5	4.407279337	0	Enzyme regulator	BrainSpLMD|23533	OMIM|611317;HPO|23533|Areflexia, Autosomal recessive inheritance, Cerebellar atrophy, Distal sensory impairment, Dysarthria, Dysmetria, Frequent falls, Hyporeflexia, Nystagmus, Oculomotor apraxia, Progressive, Slow saccadic eye movements
Microglia	CD37	4.403806766	0	Unclassified	BrainSpLMD|951;Eurexp|euxassay_013869|thymus primordium	OMIM|151523
Microglia	PLVAP	4.392456623	0	Unclassified	BrainSpLMD|83483;Eurexp|euxassay_005747|embryo	OMIM|607647
Microglia	SYK	4.390776406	0	Tyrosine kinase	BrainSpLMD|6850	OMIM|600085;COSMIC||MDS, peripheral T-cell lymphoma
Microglia	AC006129.1	4.374657084	0			
Microglia	SERPINB9	4.373719783	0	Protease inhibitor	BrainSpLMD|5272	OMIM|601799
Microglia	HCK	4.372319215	0	Tyrosine kinase	BrainSpLMD|3055;Eurexp|euxassay_009826|basioccipital bone, basisphenoid bone, clavicle, femur, fibula, hip, humerus, mandible, maxilla, rib, tibia, vibrissa	OMIM|142370
Microglia	AIF1	4.288993074	0	Adapter molecule	BrainSpLMD|199	OMIM|601833
Microglia	IL10RA	4.260259476	0	Cell surface receptor	BrainSpLMD|3587	OMIM|146933;HPO|3587|Autosomal recessive inheritance, Enterocolitis, Hematochezia, Perianal abscess, Pyoderma
Microglia	TNFRSF1B	4.23879038	0	Cell surface receptor	BrainSpLMD|7133	OMIM|191191;HPO|7133|Abnormality of lymphocytes, Alopecia, Cutaneous T-cell lymphoma, Dry skin, Eczema, Erythema, Erythroderma, Hepatomegaly, Hypopigmented skin patches, Immunodeficiency, Irregular hyperpigmentation, Lichenification, Lymphadenopathy, Nail dystrophy, Neoplasm of the skin, Palmoplantar keratoderma, Poikiloderma, Pruritus, Skin plaque, Skin rash, Splenomegaly
Microglia	DOCK2	4.23859776	0	Unclassified	BrainSpLMD|1794	OMIM|603122;HPO|1794|Autosomal recessive inheritance, Congenital onset, Immunodeficiency
Microglia	NPL	4.237613901	0	Unclassified	BrainSpLMD|80896	OMIM|611412
Microglia	NEAT1	4.205964358	0			OMIM|612769
Microglia	PIK3AP1	4.189719464	0	Adapter molecule	BrainSpLMD|118788	OMIM|607942
Microglia	CTSH	4.188059039	0	Cysteine protease	BrainSpLMD|1512	OMIM|116820;HPO|1512|Abnormal rapid eye movement sleep, Abnormality of vision, Cataplexy, Excessive daytime sleepiness, Hallucinations, Transient global amnesia
Microglia	MERTK	4.186219759	0	Receptor tyrosine kinase	BrainSpLMD|10461;BrainSpMouseDev|17058	OMIM|604705;HPO|10461|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Macular atrophy, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Peripheral retinal atrophy, Photophobia, Progressive night blindness, Progressive visual loss, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
Microglia	FCGR1C	4.17313015	0			
Microglia	LRMP	4.172170772	0	Integral membrane protein	BrainSpLMD|4033;Eurexp|euxassay_006089|liver, thymus primordium;BrainSpMouseDev|16740	OMIM|602003
Microglia	PCED1B.AS1	4.152302623	0			
Microglia	CD97	4.146882708	0			
Microglia	PDK4	4.141572171	0	Enzyme: Phosphotransferase	BrainSpLMD|5166	OMIM|602527
Microglia	CD300A	4.131702379	0	Immunoglobulin	BrainSpLMD|11314	OMIM|606790
Microglia	ITGAL	4.127157952	0	Cell surface receptor	BrainSpLMD|3683;Eurexp|euxassay_009583|thymus primordium	OMIM|153370
Microglia	IFI30	4.122376604	0	Enzyme: Reductase	BrainSpLMD|10437;Eurexp|euxassay_001635|foregut-midgut junction, hindgut, liver, lobe, midgut, oesophagus, orbito-sphenoid, stomach, submandibular gland primordium, thymus primordium	OMIM|604664
Microglia	CXorf21	4.12107432	0	Unclassified	BrainSpLMD|80231	
Microglia	SIGLEC14	4.110093329	0	Cell surface receptor		
Microglia	LINC00996	4.082175019	0			
Microglia	LRRK1	4.078639398	0	Dual specificity kinase	BrainSpLMD|79705	OMIM|610986
Microglia	CTSS	4.071067997	0	Cysteine protease	BrainSpLMD|1520;Eurexp|euxassay_004030|embryo;BrainSpMouseDev|12821	OMIM|116845
Microglia	KLHL6.AS1	4.068337924	0			
Microglia	SP100	4.064230613	0	Transcription regulatory protein	BrainSpLMD|6672	OMIM|604585
Microglia	MAP2K3	4.051089154	0	Serine/threonine kinase	BrainSpLMD|5606	OMIM|602315
Microglia	SLC11A1	4.047531089	0	Transport/cargo protein	BrainSpLMD|6556	OMIM|600266;HPO|6556|Abnormality of lung morphology, Cough, Fatigue, Fever, Weight loss
Microglia	TMEM156	4.045996919	0	Unclassified	BrainSpLMD|80008	
Microglia	MILR1	4.034948087	0	Unclassified		
Microglia	NCF2	4.033116326	0	Enzyme: Oxidase	BrainSpLMD|4688;Eurexp|euxassay_006090|thymus primordium	OMIM|608515;HPO|4688|Abnormality of neutrophils, Absence of bactericidal oxidative 'respiratory burst' in phagocytes, Autosomal recessive inheritance, Cellulitis, Chronic obstructive pulmonary disease, Cutaneous photosensitivity, Decreased activity of NADPH oxidase, Discoid lupus rash, Eczematoid dermatitis, Fever, Granulomatosis, Hepatomegaly, Hypermelanotic macule, Juvenile onset, Liver abscess, Lymphadenitis, Lymphadenopathy, Malabsorption, Mediastinal lymphadenopathy, Negative nitroblue tetrazolium reduction test, Osteomyelitis, Otitis media, Pyloric stenosis, Rectal abscess, Recurrent Aspergillus infections, Recurrent Burkholderia cepacia infections, Recurrent E. coli infections, Recurrent Klebsiella infections, Recurrent Serratia marcescens infections, Recurrent Staphylococcus aureus infections, Recurrent bacterial skin infections, Recurrent pneumonia, Recurrent respiratory infections, Sinusitis, Splenomegaly, Tracheoesophageal fistula
Microglia	TLR1	4.027239122	0	Cell surface receptor	BrainSpLMD|7096	OMIM|601194
Microglia	TRIM38	4.025054594	0	Ubiquitin proteasome system protein	BrainSpLMD|10475	
Microglia	TLR10	4.023991982	0	Cell surface receptor	BrainSpLMD|81793	OMIM|606270
Microglia	PLAU	4.019275517	0	Serine protease	BrainSpLMD|5328	OMIM|191840;HPO|5328|Autosomal dominant inheritance, Bruising susceptibility, Epistaxis, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Menorrhagia, Thrombocytopenia
Microglia	ELF1	4.017773718	0	Transcription factor	BrainSpLMD|1997;Eurexp|euxassay_019460|bladder, epidermis, epithelium, hindgut, incisor, larynx, liver, lung, metanephros, midgut, oesophagus, olfactory, oral epithelium, pancreas, pharyngo-tympanic tube, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, vibrissa;BrainSpMouseDev|13487	OMIM|189973
Microglia	A2M	4.01231535	0	Protease inhibitor	BrainSpLMD|2;Eurexp|euxassay_008556|adrenal gland, choroid plexus, lobe, lung, meninges, mesenchyme, neural retina, ventricular layer, vibrissa;BrainSpMouseDev|87409	OMIM|103950;HPO|2|Autosomal dominant inheritance
Microglia	CDKN1A	4.000450914	0	Cell cycle control protein	BrainSpLMD|1026	OMIM|116899;COSMIC||bladder cancer;HPO|1026|Adrenocortical adenoma, Angiofibromas, Diarrhea, Elevated circulating parathyroid hormone level, Episodic abdominal pain, Esophagitis, Fasting hyperinsulinemia, Growth hormone excess, Hypercalcemia, Hyperinsulinemic hypoglycemia, Hyperparathyroidism, Insulinoma, Parathyroid adenoma, Parathyroid hyperplasia, Peptic ulcer, Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary prolactin cell adenoma, Subcutaneous lipoma, Thyroid adenoma, Zollinger-Ellison syndrome
Microglia	APOC1	3.984336653	0	Transport/cargo protein	BrainSpLMD|341	OMIM|107710
Microglia	MPEG1	3.955931675	0	Unclassified	Eurexp|euxassay_009358|embryo;BrainSpMouseDev|17244	OMIM|610390
Microglia	LGMN	3.949969321	0	Cysteine protease	BrainSpLMD|5641;Eurexp|euxassay_011126|choroid invagination, choroid plexus, corpus striatum, embryo, floor plate, floorplate, mandible, maxilla, pituitary, roof plate;BrainSpMouseDev|18904	OMIM|602620
Microglia	FCGRT	3.917172624	0	Cell surface receptor	BrainSpLMD|2217;Eurexp|euxassay_011956|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones	OMIM|601437
Microglia	ICAM1	3.914247908	0	Adhesion molecule	BrainSpLMD|3383;Eurexp|euxassay_006087|left lung, right lung, thymus primordium	OMIM|147840
Microglia	IKZF1	3.9087734	0	Transcription factor	BrainSpLMD|10320;Eurexp|euxassay_019500|liver, mantle layer, thymus primordium;BrainSpMouseDev|22535	OMIM|603023;COSMIC||ALL, DLBCL;HPO|10320|Abnormal blistering of the skin, Abnormality of neutrophils, Acantholysis, Autosomal dominant inheritance, B lymphocytopenia, Decreased antibody level in blood, Diarrhea, Dysphagia, Erythema, Excessive salivation, Fatigue, Fever, Incomplete penetrance, Macule, Nausea and vomiting, Recurrent bacterial infections, Weight loss
Microglia	CPVL	3.879841457	0	Carboxypeptidase	BrainSpLMD|54504	OMIM|609780
Microglia	GADD45B	3.852031319	0	Cell cycle control protein	BrainSpLMD|4616;Eurexp|euxassay_014952|Meckel's cartilage, olfactory, orbito-sphenoid	SFARI||Autism, 5 - Hypothesized but untested;OMIM|604948
Microglia	LPAR6	3.849484752	0	G protein coupled receptor	BrainSpLMD|10161	OMIM|609239;HPO|10161|Alopecia, Autosomal dominant inheritance, Autosomal recessive inheritance, Brittle hair, Coarse hair, Fair hair, Fine hair, Hypopigmentation of hair, Hypotrichosis, Hypotrichosis of the scalp, Slow-growing hair, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Woolly hair
Microglia	RNA5SP151	3.838407055	0			
Microglia	KLF2	3.82330907	0	Transcription factor	BrainSpLMD|10365;Eurexp|euxassay_019501|Meckel's cartilage, axial skeleton, clavicle, endocardial tissue, incisor, mandible, maxilla, mesenchyme, metatarsus, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, rib, turbinate, valve;BrainSpMouseDev|16371	OMIM|602016
Microglia	BAG3	3.821546771	0	Adapter molecule	BrainSpLMD|9531	OMIM|603883;HPO|9531|Autosomal dominant inheritance, Axonal loss, Congestive heart failure, Demyelinating peripheral neuropathy, Diaphragmatic paralysis, Dilated cardiomyopathy, Distal sensory impairment, EMG: myopathic abnormalities, Easy fatigability, Elevated serum creatine phosphokinase, Facial palsy, Generalized amyotrophy, Hypertrophic cardiomyopathy, Hyporeflexia, Knee flexion contracture, Muscular dystrophy, Myofibrillar myopathy, Nasal speech, Pes cavus, Rapidly progressive, Respiratory insufficiency, Scoliosis, Spinal rigidity
Microglia	HSPA6	3.816690894	0	Heat shock protein	BrainSpLMD|3310	OMIM|140555
Microglia	PIK3CG	3.812472873	0	Lipid Kinase	BrainSpLMD|5294	SFARI||Autism, 4 - Minimal evidence;OMIM|601232
Microglia	RP11.733O18.1	3.809720309	0			
Microglia	EVI2B	3.809520075	0	Integral membrane protein	BrainSpLMD|2124	OMIM|158381
Microglia	ETS2	3.79338245	0	Transcription factor	BrainSpLMD|2114;Eurexp|euxassay_011879|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, nasal septum, orbito-sphenoid, otic capsule, petrous part, rib, scapula, tibia, turbinate, vault of skull;BrainSpMouseDev|23625	OMIM|164740
Microglia	IRAK2	3.782768165	0	Serine/threonine kinase	BrainSpLMD|3656;Eurexp|euxassay_013743|left lung, right lung	OMIM|603304
Microglia	SGK1	3.782197327	0	Serine/threonine kinase	BrainSpLMD|6446;Eurexp|euxassay_010543|adrenal gland, choroid invagination, choroid plexus, left lung, lip, medullary stroma, mesenchyme, right lung, roof plate, vibrissa;BrainSpMouseDev|20156	OMIM|602958;COSMIC||Nodular lymphocyte predominant Hodgkin lymphoma
Microglia	MAP3K5	3.780381058	0	Serine/threonine kinase	BrainSpLMD|4217;Eurexp|euxassay_018579|bladder, clavicle, lens, mantle layer, naris, olfactory, thymus primordium, thyroid, trigeminal V, vibrissa	OMIM|602448
Microglia	UBA7	3.727806983	0	Ubiquitin proteasome system protein	BrainSpLMD|7318;Eurexp|euxassay_000752|lobe, thymus primordium	OMIM|191325
Microglia	NFKBIA	3.71088179	0	Transcription regulatory protein	BrainSpLMD|4792;Eurexp|euxassay_009409|anterior, mandible, maxilla, molar, naris, thymus primordium;BrainSpMouseDev|17802	OMIM|164008;HPO|4792|Anhidrosis, Anhidrotic ectodermal dysplasia, Aplasia of the sweat glands, Autosomal dominant inheritance, Concave nasal ridge, Conical tooth, Frontal bossing, Heat intolerance, Hypodontia, Hypohidrosis, Infantile onset, Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Sparse hair
Microglia	ARHGDIB	3.698287562	0	Adapter molecule	BrainSpLMD|397;Eurexp|euxassay_002360|brain, dorsal root ganglion, spinal cord, thymus primordium, trigeminal V	OMIM|602843
Microglia	EHD4	3.674255011	0	Calcium binding protein	BrainSpLMD|30844;Eurexp|euxassay_011878|Meckel's cartilage, axial skeleton, femur, fibula, hip, humerus, rib, scapula, tibia	OMIM|605892
Microglia	RYR1	3.651219864	0	Intracellular ligand gated channel	BrainSpLMD|6261;Eurexp|euxassay_007404|diaphragm, mantle layer, mesenchyme, rest of mesenchyme, skeletal muscle, vertebral axis muscle system	OMIM|180901;HPO|6261|Abnormality of the coagulation cascade, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Axial muscle weakness, Bulbar palsy, Centrally nucleated skeletal muscle fibers, Congenital hip dislocation, Congenital onset, Decreased fetal movement, Difficulty running, Dilated cardiomyopathy, Dysphagia, Elevated serum creatine phosphokinase, Exercise-induced myalgia, External ophthalmoplegia, Facial palsy, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Fever, Flexion contracture, Generalized muscle weakness, Heterogeneous, High palate, Hydrops fetalis, Hyperkalemia, Hyperphosphatemia, Hypotension, Increased connective tissue, Increased variability in muscle fiber diameter, Infantile onset, Joint laxity, Kyphoscoliosis, Long face, Lumbar hyperlordosis, Malignant hyperthermia, Mixed respiratory and metabolic acidosis, Motor delay, Muscular dystrophy, Muscular hypotonia, Myoglobinuria, Myopathic facies, Myopathy, Narrow face, Nemaline bodies, Neonatal hypotonia, Neonatal onset, Nonprogressive, Pes planus, Phenotypic variability, Polyhydramnios, Proximal muscle weakness, Ptosis, Pulmonary hypoplasia, Recurrent respiratory infections, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Rhabdomyolysis, Rigidity, Scoliosis, Skeletal muscle atrophy, Slow progression, Tachycardia, Type 1 and type 2 muscle fiber minicore regions, Type 1 fibers relatively smaller than type 2 fibers, Type 1 muscle fiber predominance, Variable expressivity, Weak cry
Microglia	GMFG	3.649576165	0	Growth factor	BrainSpLMD|9535;Eurexp|euxassay_004389|thymus primordium	OMIM|604104
Microglia	CASP1	3.64598327	0	Cysteine protease	BrainSpLMD|834	OMIM|147678
Microglia	RNVU1.15	3.636999932	0			
Microglia	MYO1F	3.630331299	0	Motor protein	BrainSpLMD|4542;Eurexp|euxassay_005689|embryo	OMIM|601480
Microglia	SLC15A3	3.628681303	0	Membrane transport protein	BrainSpLMD|51296;Eurexp|euxassay_019702|lobe	OMIM|610408
Microglia	NFKBIZ	3.628333437	0	Transcription regulatory protein	BrainSpLMD|64332	OMIM|608004
Microglia	CTSC	3.624176415	0	Cysteine protease	BrainSpLMD|1075	OMIM|602365;HPO|1075|Abnormality of the fingernails, Abnormality of the skin, Arachnodactyly, Atrophy of alveolar ridges, Autosomal recessive inheritance, Cerebral calcification, Choroid plexus calcification, Chronic furunculosis, Congenital palmoplantar keratosis, Gingival recession, Gingivitis, Heterogeneous, Nail dystrophy, Osteolytic defects of the phalanges of the hand, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Pes planus, Premature loss of primary teeth, Premature loss of teeth, Pustule, Recurrent bacterial skin infections, Recurrent cutaneous abscess formation, Recurrent respiratory infections, Reduced number of teeth, Severe periodontitis, Tapering pointed ends of distal finger phalanges, Thick nail
Microglia	FMN1	3.616895662	0	Cell junction protein		OMIM|136535
Microglia	SYNGR2	3.615158583	0	Integral membrane protein	BrainSpLMD|9144	OMIM|603926
Microglia	KBTBD8	3.613394368	0	Transcription regulatory protein	BrainSpLMD|84541	OMIM|616607
Microglia	ADRB2	3.607655316	0	G protein coupled receptor	BrainSpLMD|154;Eurexp|euxassay_013681|lobe, naris	SFARI||Autism, 4 - Minimal evidence;OMIM|109690
Microglia	SLFN11	3.603849833	0	Cell cycle control protein	BrainSpLMD|91607	OMIM|614953
Microglia	CASP10	3.595088467	0	Cysteine protease	BrainSpLMD|843	OMIM|601762;HPO|843|Antineutrophil antibody positivity, Antinuclear antibody positivity, Antiphospholipid antibody positivity, Autoimmune hemolytic anemia, Autoimmune neutropenia, Autoimmune thrombocytopenia, Autosomal dominant inheritance, Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Decreased lymphocyte apoptosis, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Eosinophilia, Follicular hyperplasia, Hepatomegaly, Increase in B cell number, Increased IgA level, Increased IgG level, Increased IgM level, Increased proportion of HLA DR+ and CD57+ T cells, Iron deficiency anemia, Juvenile onset, Lymphoma, Malar rash, Nephritis, Nephrotic syndrome, Platelet antibody positive, Reduced delayed hypersensitivity, Rheumatoid factor positive, Smooth muscle antibody positivity, Somatic mutation, Splenomegaly, Stomach cancer, Urticaria, Vasculitis
Microglia	IL13RA1	3.593933025	0	Cytokine receptor	BrainSpLMD|3597;Eurexp|euxassay_007297|aorta, left lung, mesentery, metanephros, midgut, pituitary, right lung;BrainSpMouseDev|15937	OMIM|300119
Microglia	AC006129.4	3.588965585	0			
Microglia	C1orf162	3.583427567	0	Unclassified	BrainSpLMD|128346	
Microglia	NFKBID	3.583128171	0	Unclassified	BrainSpLMD|84807	
Microglia	OTUD1	3.555721927	0	Unclassified		OMIM|612022
Microglia	VAMP8	3.547121555	0	Membrane transport protein	BrainSpLMD|8673	OMIM|603177
Microglia	S100A11	3.546766247	0	Calcium binding protein	BrainSpLMD|6282	OMIM|603114
Microglia	NINJ1	3.537797056	0	Adhesion molecule	BrainSpLMD|4814;Eurexp|euxassay_009199|cardiovascular system, cavities and their linings, central nervous system, gland, integumental system, limb, marginal layer, meninges, mesenchyme, organ system, peripheral nervous system, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|602062
Microglia	BTBD19	3.512779998	0			
Microglia	SH2B3	3.508679364	0	Adapter molecule	BrainSpLMD|10019;Eurexp|euxassay_003586|molar	OMIM|605093;COSMIC||MPN, sAML, erythrocytosis, B-ALL, Coeliac disease type 13, diabetes mellitus, insulin-dependent,;HPO|10019|Abnormal platelet morphology, Abnormality of the skeletal system, Acrocyanosis, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Cerebral hemorrhage, Chest pain, Exertional dyspnea, Fatigue, Headache, Hypertension, Impaired platelet aggregation, Increased hematocrit, Increased hemoglobin, Increased megakaryocyte count, Increased red blood cell mass, Myelofibrosis, Myeloproliferative disorder, Myocardial infarction, Paresthesia, Peripheral thrombosis, Plethora, Prolonged bleeding time, Somatic mutation, Splenomegaly, Thrombocytosis, Transient ischemic attack, Venous thrombosis, Vertigo
Microglia	P2RX4	3.507680611	0	Cell surface receptor	BrainSpLMD|5025;Eurexp|euxassay_001944|nasal septum, orbito-sphenoid, turbinate, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|18205	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600846
Microglia	EVI2A	3.479246515	0	Integral membrane protein	BrainSpLMD|2123;Eurexp|euxassay_018478|thymus primordium	OMIM|158380
Microglia	TNF	3.455079054	0	Ligand	BrainSpLMD|7124	OMIM|191160
Microglia	RELB	3.45207957	0	Transcription factor	BrainSpLMD|5971;Eurexp|euxassay_004415|axial skeleton	OMIM|604758
Microglia	TEX14	3.448729998	0	Dual specificity kinase	BrainSpLMD|56155	OMIM|605792
Microglia	RNASET2	3.446763128	0	Ribonuclease	BrainSpLMD|8635;Eurexp|euxassay_018690|adrenal gland, choroid plexus, floor plate, floorplate, mandible, metanephros, orbito-sphenoid, ovary, pancreas, roof plate, thymus primordium, thyroid, vibrissa	OMIM|612944;HPO|8635|Autosomal recessive inheritance, Focal white matter lesions, Poor speech, Slow progression
Microglia	SH3TC1	3.437084045	0	Unclassified	BrainSpLMD|54436;Eurexp|euxassay_013707|meninges, mesenchyme	
Microglia	KIAA0226L	3.435393698	0			
Microglia	SKAP2	3.427480007	0	Adapter molecule	BrainSpLMD|8935	OMIM|605215
Microglia	GAB3	3.427448067	0	Unclassified	BrainSpLMD|139716	OMIM|300482
Microglia	RUNX1	3.415029894	0	Transcription factor	BrainSpLMD|861;Eurexp|euxassay_019458|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, cricoid, dorsal root ganglion, epithelium, facial VII, femur, fibula, glossopharyngeal IX, incisor, larynx, mandible, mantle layer, maxilla, metatarsus, molar, olfactory, orbito-sphenoid, pelvic girdle, phalanx, pharyngo-tympanic tube, rib, sternum, stomach, thymus primordium, thyroid, tibia, trachea, trigeminal V, turbinate, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|12179	OMIM|151385;COSMIC||AML, pre B-ALL, T-ALL;HPO|861|Abnormality of basophils, Acute monocytic leukemia, Acute myeloid leukemia, Autosomal dominant inheritance, Bruising susceptibility, Epistaxis, Fatigue, Fever, Impaired platelet aggregation, Leukocytosis, Lymphoma, Myelodysplasia, Myeloproliferative disorder, Neuroblastoma, Poor appetite, Prolonged bleeding time, Splenomegaly, Thrombocytopenia, Thrombocytosis
Microglia	IL1RAP	3.414822323	0	Cell surface receptor	BrainSpLMD|3556;Eurexp|euxassay_003867|calyces, choroid plexus, lateral recess, ventral grey horn	OMIM|602626
Microglia	RPS6KA1	3.40406719	0	Serine/threonine kinase	BrainSpLMD|6195	OMIM|601684
Microglia	CEBPD	3.389318526	0	Transcription factor	BrainSpLMD|1052;BrainSpMouseDev|12394	OMIM|116898
Microglia	ZFP36	3.384590291	0	RNA binding protein	BrainSpLMD|7538	OMIM|190700
Microglia	P2RX7	3.382462089	0	Extracellular ligand gated channel	BrainSpLMD|5027;BrainSpMouseDev|18206	OMIM|602566
Microglia	LYN	3.377402997	0	Tyrosine kinase	BrainSpLMD|4067	OMIM|165120
Microglia	PLCB2	3.370409135	0	GTPase activating protein	BrainSpLMD|5330	OMIM|604114
Microglia	SLC7A8	3.368385207	0	Membrane transport protein	BrainSpLMD|23428;Eurexp|euxassay_008218|renal/urinary system	OMIM|604235
Microglia	LGALS9	3.353066204	0	Chemokine;Adhesion molecule		OMIM|601879
Microglia	RASSF5	3.351412056	0	Unclassified	BrainSpLMD|83593;Eurexp|euxassay_009651|thymus primordium	SFARI||Autism, No category;OMIM|607020
Microglia	STAT6	3.349378433	0	Transcription factor	BrainSpLMD|6778;Eurexp|euxassay_019507|bladder, oesophagus, olfactory, submandibular gland primordium, urethra	OMIM|601512;COSMIC||solitary fibrous tumour, meningeal haemangiopericytoma
Microglia	LY96	3.333090037	0	Ligand	BrainSpLMD|23643	OMIM|605243
Microglia	SLC7A7	3.330884933	0	Transport/cargo protein	BrainSpLMD|9056	SFARI||Autism, 4 - Minimal evidence;OMIM|603593;HPO|9056|Alveolar proteinosis, Aminoaciduria, Anemia, Autosomal recessive inheritance, Cutis laxa, Delayed skeletal maturation, Diarrhea, Failure to thrive, Fine hair, Generalized hypotonia, Hemophagocytosis, Hepatomegaly, Hyperammonemia, Hyperextensible skin, Increased serum ferritin, Infantile onset, Leukopenia, Malnutrition, Muscle weakness, Nausea, Oroticaciduria, Osteoporosis, Pancreatitis, Phenotypic variability, Pulmonary hemorrhage, Recurrent fractures, Respiratory insufficiency, Short stature, Skeletal muscle atrophy, Sparse hair, Splenomegaly, Stage 5 chronic kidney disease, Thrombocytopenia, Truncal obesity, Vomiting
Microglia	LPAR5	3.329342256	0	G protein coupled receptor	BrainSpLMD|57121	OMIM|606926
Microglia	ALOX5	3.326660881	0	Enzyme: Lipase	BrainSpLMD|240	OMIM|152390
Microglia	MIR616	3.32375676	0			OMIM|614489
Microglia	IL17RA	3.315187718	0	Cytokine receptor	BrainSpLMD|23765;Eurexp|euxassay_011739|thymus primordium	OMIM|605461;HPO|23765|Abnormal toenail morphology, Abnormality of the fingernails, Abnormality of the vagina, Autosomal recessive inheritance, Broad nail, Cheilitis, Chronic mucocutaneous candidiasis, Dyspareunia, Erythema, Hyperkeratosis, Papule, Skin rash, Skin ulcer
Microglia	LILRB4	3.311408244	0	Cell surface receptor	BrainSpLMD|11006	OMIM|604821
Microglia	TNFAIP3	3.309885462	0	Transcription regulatory protein	BrainSpLMD|7128	OMIM|191163;COSMIC||marginal zone B-cell lymphomas, Hodgkin lymphoma, PMBL;HPO|7128|Autosomal dominant inheritance
Microglia	MFSD1	3.309086942	0	Integral membrane protein	BrainSpLMD|64747	
Microglia	DNAJA4	3.307116735	0	Unclassified	BrainSpLMD|55466;Eurexp|euxassay_012762|choroid invagination, choroid plexus, liver, roof plate	
Microglia	LAIR1	3.295008517	0	Immunoglobulin;Cell surface receptor	BrainSpLMD|3903	OMIM|602992
Microglia	PRKCD	3.292335113	0	Serine/threonine kinase	BrainSpLMD|5580;Eurexp|euxassay_000773|basal plate, cochlear component, dorsal root ganglion, inferior, superior, trigeminal V, vestibular component;BrainSpMouseDev|18517	OMIM|176977;HPO|5580|Anal atresia, Arthralgia, Autoimmune thrombocytopenia, Autosomal recessive inheritance, Brachycephaly, Bronchiectasis, Chronic otitis media, Decreased antibody level in blood, Elevated hepatic transaminases, Hemolytic anemia, Hepatomegaly, Immunodeficiency, Infantile onset, Lymphadenopathy, Lymphopenia, Membranous nephropathy, Nephrotic syndrome, Pneumonia, Purpura, Recurrent bronchitis, Recurrent infections, Splenomegaly
Microglia	TMEM173	3.291840458	0	Unclassified	BrainSpLMD|340061	OMIM|612374;HPO|340061|Anemia, Autosomal dominant inheritance, Cutis marmorata, Elevated erythrocyte sedimentation rate, Erythema, Failure to thrive, Fever, Follicular hyperplasia, Growth delay, Increased antibody level in blood, Interstitial pulmonary abnormality, Leukopenia, Malar rash, Nail dystrophy, Neonatal onset, Pustule, Recurrent respiratory infections, Telangiectasia, Thrombocytosis, Variable expressivity
Microglia	CEBPB	3.285969466	0	Transcription factor	BrainSpLMD|1051;Eurexp|euxassay_019532|medulla, submandibular gland primordium	OMIM|189965
Microglia	WDFY4	3.269182511	0	Unclassified	BrainSpLMD|57705	OMIM|613316
Microglia	ARHGAP30	3.267853759	0	GTPase activating protein	BrainSpLMD|257106	OMIM|614264
Microglia	GSN	3.25693808	0	Cytoskeletal protein	BrainSpLMD|2934	SFARI||Autism, No category;OMIM|137350;HPO|2934|Abnormality of abdomen morphology, Adult onset, Autosomal dominant inheritance, Bulbar palsy, Cardiac amyloidosis, Cardiomyopathy, Cutis laxa, Generalized amyloid deposition, Lattice corneal dystrophy, Nephrotic syndrome, Polyneuropathy, Renal insufficiency
Microglia	HLA.B	3.252286174	0			
Microglia	RNU1.27P	3.250526985	0			
Microglia	PALD1	3.249019953	0	Unclassified	BrainSpLMD|27143;Eurexp|euxassay_007695|brain, incisor, mandible, maxilla, molar, palatal shelf, spinal cord, ventricular layer, vibrissa	OMIM|614656
Microglia	B4GALT1	3.240989881	0	Enzyme: Galactosyltransferase	BrainSpLMD|2683	OMIM|137060;HPO|2683|Abnormality of coagulation, Autosomal recessive inheritance, Dandy-Walker malformation, Elevated serum creatine phosphokinase, Generalized hypotonia, Global developmental delay, Hydrocephalus, Macrocephaly, Muscular hypotonia, Myopathy
Microglia	ARPC1B	3.239393812	0	Cytoskeletal associated protein	BrainSpLMD|10095	OMIM|604223
Microglia	CTSB	3.238136695	0	Cysteine protease	BrainSpLMD|1508	OMIM|116810;HPO|1508|Erythema
Microglia	HTRA1	3.233304073	0	Serine protease	BrainSpLMD|5654;Eurexp|euxassay_005061|anterior abdominal wall, aorta, axial muscle, axial skeleton, choroid plexus, diaphragm, humerus, incisor, lung, mesenchyme, metatarsus, molar, nucleus pulposus, pancreas, pelvic girdle, pharyngo-tympanic tube, rest of mesenchyme, rest of mesencyme, roof plate, scapula, skeletal muscle, sternum, tongue, trachea, ventricular layer, vibrissa	OMIM|602194;HPO|5654|Abnormality of extrapyramidal motor function, Alopecia, Arteriosclerosis of small cerebral arteries, Ataxia, Autosomal recessive inheritance, Babinski sign, Dementia, Diffuse demyelination of the cerebral white matter, Diffuse white matter abnormalities, Dysarthria, Gait disturbance, Hyperreflexia, Leukoencephalopathy, Low back pain, Progressive encephalopathy, Pseudobulbar signs, Rigidity, Spasticity, Urinary incontinence
Microglia	BIN1	3.226631478	0	Adapter molecule	BrainSpLMD|274;Eurexp|euxassay_008004|diaphragm, mesenchyme, rest of mesenchyme, shoulder joint primordium, skeletal muscle, tongue, vertebral axis muscle system	SFARI||Autism, No category;OMIM|601248;HPO|274|Areflexia, Autosomal recessive inheritance, Axial muscle weakness, Centrally nucleated skeletal muscle fibers, Distal muscle weakness, Dysarthria, Dysphonia, EMG: myopathic abnormalities, Facial palsy, Feeding difficulties in infancy, Flexion contracture, Generalized amyotrophy, Gowers sign, Hyperlordosis, Kyphosis, Motor delay, Neonatal hypotonia, Onset, Ophthalmoplegia, Ptosis, Scoliosis, Waddling gait
Microglia	FLI1	3.22295779	0	Transcription factor	BrainSpLMD|2313;Eurexp|euxassay_019453|liver;BrainSpMouseDev|14024	OMIM|193067;COSMIC||Ewing sarcoma;HPO|2313|Abnormal form of the vertebral bodies, Abnormality of the cardiovascular system, Anteverted nares, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Attention deficit hyperactivity disorder, Bone marrow hypocellularity, Broad columella, Broad hallux phalanx, Constipation, Cryptorchidism, Downslanted palpebral fissures, Epicanthus, Facial asymmetry, Feeding difficulties in infancy, Finger syndactyly, Frontal bossing, Global developmental delay, High forehead, Hypertelorism, Intellectual disability, Long hallux, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Microcornea, Missing ribs, Pes planus, Premature birth, Ptosis, Recurrent respiratory infections, Short neck, Short nose, Short stature, Short toe, Smooth philtrum, Strabismus, Thrombocytopenia, Toe clinodactyly, Toe syndactyly, Ventricular septal defect, Ventriculomegaly
Microglia	TMC8	3.218800524	0	Integral membrane protein	BrainSpLMD|147138	OMIM|605829;HPO|147138|Abnormality of metabolism/homeostasis, Basal cell carcinoma, Hypopigmented skin patches, Multiple cafe-au-lait spots, Papule, Pustule, Recurrent skin infections, Seborrheic dermatitis, Skin plaque, Verrucae
Microglia	CCL2	3.218184135	0	Chemokine	BrainSpLMD|6347	OMIM|158105
Microglia	SFMBT2	3.202836212	0	Unclassified		OMIM|615392
Microglia	TYMP	3.196032263	0	Growth factor	BrainSpLMD|1890	OMIM|131222;HPO|1890|Abdominal pain, Areflexia, Autosomal recessive inheritance, Cachexia, Constipation, Cytochrome C oxidase-negative muscle fibers, Death in early adulthood, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Gastrointestinal dysmotility, Gastroparesis, Hypointensity of cerebral white matter on MRI, Intermittent diarrhea, Lactic acidosis, Leukoencephalopathy, Malabsorption, Malnutrition, Mitochondrial myopathy, Multiple mitochondrial DNA deletions, Progressive, Progressive external ophthalmoplegia, Ptosis, Ragged-red muscle fibers, Sensorineural hearing impairment, Subsarcolemmal accumulations of abnormally shaped mitochondria, Vomiting
Microglia	SLC9A9	3.187446515	0	Membrane transport protein	BrainSpLMD|285195;Eurexp|euxassay_014481|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|109037	SFARI||Autism, 4 - Minimal evidence;OMIM|608396
Microglia	OSTF1	3.171283906	0	Adapter molecule	BrainSpLMD|26578;BrainSpMouseDev|20172	OMIM|610180
Microglia	PMAIP1	3.16334034	0	Unclassified	BrainSpLMD|5366	OMIM|604959
Microglia	SOD2	3.158489211	0	Enzyme: Superoxide dismutase	BrainSpLMD|6648;Eurexp|euxassay_018920|axial muscle, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mandible, mantle layer, marginal layer, maxilla, neural retina, orbito-sphenoid, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, ventricle, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|147460
Microglia	CSRNP1	3.144696071	0	Unclassified	BrainSpLMD|64651	OMIM|606458
Microglia	DDIT3	3.116837778	0	Transcription factor	BrainSpLMD|1649;Eurexp|euxassay_009824|olfactory;BrainSpMouseDev|12978	OMIM|126337;COSMIC||liposarcoma;HPO|1649|Myxoid liposarcoma, Somatic mutation, Subcutaneous nodule
Microglia	MYLIP	3.116784192	0	Ubiquitin proteasome system protein	BrainSpLMD|29116	OMIM|610082
Microglia	RILPL2	3.111206791	0	Unclassified		OMIM|614093
Microglia	IPCEF1	3.105811092	0	Unclassified	BrainSpLMD|26034	
Microglia	RASGRP3	3.094051903	0	Guanine nucleotide exchange factor	BrainSpLMD|25780;Eurexp|euxassay_006926|thymus primordium	OMIM|609531
Microglia	SQSTM1	3.092175675	0	Ubiquitin proteasome system protein	BrainSpLMD|8878	OMIM|601530;HPO|8878|Abnormal brain FDG positron emission tomography, Abnormal lower motor neuron morphology, Abnormal pyramidal signs, Abnormality of pelvic girdle bone morphology, Abnormality of the cerebral white matter, Absent Achilles reflex, Aggressive behavior, Amyotrophic lateral sclerosis, Anxiety, Apathy, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone pain, Brain stem compression, Bulbar palsy, Cerebral cortical atrophy, Collectionism, Cranial nerve paralysis, Depressivity, Disinhibition, Dysarthria, Dyscalculia, Dysdiadochokinesis, Dysgraphia, Dyslexia, Dysmetria, Dysphagia, Dysphasia, Dyspnea, Dystonia, EEG with continuous slow activity, EMG: myopathic abnormalities, EMG: myotonic discharges, EMG: positive sharp waves, Echolalia, Elevated alkaline phosphatase, Elevated serum creatine phosphokinase, Emotional blunting, Emotional lability, Facial palsy, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Fatty replacement of skeletal muscle, Foot dorsiflexor weakness, Fractures of the long bones, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait ataxia, Generalized muscle weakness, Heterogeneous, Hip flexor weakness, Hydroxyprolinuria, Hyperorality, Hyperreflexia, Hyporeflexia, Hypothyroidism, Inappropriate behavior, Increased susceptibility to fractures, Increased variability in muscle fiber diameter, Irritability, Lack of insight, Language impairment, Limb ataxia, Limited shoulder movement, Limited wrist extension, Long-tract signs, Loss of speech, Memory impairment, Mental deterioration, Mildly elevated creatine phosphokinase, Muscle cramps, Muscle fiber inclusion bodies, Mutism, Neurodegeneration, Nystagmus, Oculomotor apraxia, Osteolysis, Osteosarcoma, Pain, Paralysis, Paraparesis, Patchy osteosclerosis, Perseveration, Personality changes, Phenotypic variability, Poor speech, Premature loss of teeth, Progressive, Respiratory failure, Restlessness, Restrictive behavior, Rimmed vacuoles, Scapular winging, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Spasticity, Steppage gait, Stereotypy, Tetraparesis, Thickened nuchal skin fold, Tibialis muscle weakness, Tremor, Variable expressivity, Vertebral compression fractures, Vertical supranuclear gaze palsy, Xerostomia
Microglia	NABP1	3.086990913	0	DNA binding protein;RNA binding protein	BrainSpLMD|64859	OMIM|612103
Microglia	MKNK1	3.081899909	0	Serine/threonine kinase	Eurexp|euxassay_018735|lobe, pancreas, thymus primordium	OMIM|606724
Microglia	LINC00936	3.07207097	0			
Microglia	NR4A1	3.069641956	0	Nuclear receptor	BrainSpLMD|3164;Eurexp|euxassay_007083|adrenal gland, clavicle, mandible, peripheral nervous system, submandibular gland primordium, testis, vibrissa;BrainSpMouseDev|15145	OMIM|139139
Microglia	OLFML3	3.061855978	0	Extracellular matrix protein	BrainSpLMD|56944;Eurexp|euxassay_000583|Meckel's cartilage, calyces, chondrocranium, foregut-midgut junction, hindgut, incisor, midgut, molar, pelvis, skeleton, stomach	OMIM|610088
Microglia	LINC.PINT	3.060589426	0			
Microglia	FAM105A	3.050972861	0	Unclassified	BrainSpLMD|54491;Eurexp|euxassay_012367|mesenchyme	
Microglia	DENND3	3.043914567	0	Unclassified	BrainSpLMD|22898	OMIM|617503
Microglia	EGR3	3.040914584	0	Transcription factor	BrainSpLMD|1960;Eurexp|euxassay_010934|incisor, molar, vibrissa;BrainSpMouseDev|13433	OMIM|602419
Microglia	SAT1	3.035488109	0	Enzyme: Acyltransferase	BrainSpLMD|6303;Eurexp|euxassay_018693|bladder, incisor, metanephros, olfactory, urethra, vibrissa	OMIM|313020;HPO|6303|Blepharitis, Conjunctivitis, Corneal dystrophy, Dry skin, Dystrophic fingernails, Ectropion, Facial erythema, Follicular hyperkeratosis, Folliculitis, Heterogeneous, Keratitis, Nail dysplasia, Palmoplantar keratoderma, Perifollicular fibrosis, Photophobia, Scarring alopecia of scalp, Sparse and thin eyebrow, Sparse eyelashes, X-linked recessive inheritance
Microglia	CTD.3252C9.4	3.029850028	0			
Microglia	TULP2	3.022272491	0	Transcription regulatory protein	BrainSpLMD|7288	OMIM|602309
Microglia	SCPEP1	2.999967671	0	Carboxypeptidase	BrainSpLMD|59342;BrainSpMouseDev|50458	
Microglia	NFKB1	2.99462901	0	Transcription factor	BrainSpLMD|4790;Eurexp|euxassay_017997|floorplate, naris, stomach, thymus primordium, ventricular layer;BrainSpMouseDev|17800	OMIM|164011;HPO|4790|Anal atresia, Autoimmune thrombocytopenia, Autosomal dominant inheritance, Brachycephaly, Bronchiectasis, Chronic obstructive pulmonary disease, Chronic otitis media, Decreased antibody level in blood, Elevated hepatic transaminases, Hemolytic anemia, Immunodeficiency, Lymphadenopathy, Lymphopenia, Pneumonia, Purpura, Recurrent bronchitis, Recurrent sinopulmonary infections, Recurrent skin infections, Splenomegaly, Variable expressivity
Microglia	EGR2	2.98811341	0	Transcription factor	BrainSpLMD|1959;Eurexp|euxassay_000939|vibrissa;BrainSpMouseDev|13432	SFARI||Autism, 5 - Hypothesized but untested;OMIM|129010;HPO|1959|Abnormality of the cranial nerves, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital onset, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Generalized hypotonia, Hammertoe, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Increased CSF protein, Infantile onset, Juvenile onset, Kyphoscoliosis, Motor delay, Neonatal hypotonia, Onion bulb formation, Peripheral hypomyelination, Peripheral neuropathy, Pes cavus, Segmental peripheral demyelination/remyelination, Sensory ataxia, Split hand, Steppage gait, Ulnar claw, Upper limb muscle weakness, Variable expressivity
Microglia	MYOF	2.961105113	0	Integral membrane protein	BrainSpLMD|26509	OMIM|604603
Microglia	FTL	2.951773518	0	Storage protein	BrainSpLMD|2512	OMIM|134790;HPO|2512|Abnormality of metabolism/homeostasis, Anarthria, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Blepharospasm, Bradykinesia, Cataract, Cavitation of the basal ganglia, Chorea, Choreoathetosis, Congenital nuclear cataract, Decreased serum ferritin, Dementia, Disinhibition, Dysarthria, Dysphagia, Dysphonia, Dystonia, Emotional lability, Gait disturbance, Hyperreflexia, Hypomimic face, Increased serum ferritin, Laryngeal dystonia, Mutism, Neurodegeneration, Optic atrophy, Orofacial dyskinesia, Parkinsonism, Phenotypic variability, Progressive, Retinal degeneration, Rigidity, Spastic diplegia, Spasticity, Tremor, Writer's cramp
Microglia	IFNGR1	2.932402553	0	Cytokine receptor	BrainSpLMD|3459;Eurexp|euxassay_002874|Meckel's cartilage, chondrocranium, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, rectum, stomach, thymus primordium	SFARI||Autism, 5 - Hypothesized but untested;OMIM|107470;HPO|3459|Abnormality of abdomen morphology, Abnormality of blood and blood-forming tissues, Autosomal dominant inheritance, Autosomal recessive inheritance, Generalized lymphadenopathy, Immunodeficiency, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteomyelitis
Microglia	PLA2G15	2.924266274	0	Enzyme: Phospholipase	BrainSpLMD|23659	OMIM|609362
Microglia	HLA.E	2.917774893	0			
Microglia	MED12L	2.913464776	0	Unclassified	BrainSpLMD|116931	OMIM|611318
Microglia	ATF3	2.904062479	0	Transcription regulatory protein	BrainSpLMD|467;Eurexp|euxassay_006681|femur, humerus, ventricle;BrainSpMouseDev|11697	OMIM|603148
Microglia	USP53	2.901961131	0	Ubiquitin proteasome system protein	BrainSpLMD|54532;Eurexp|euxassay_014191|incisor, molar, olfactory, submandibular gland primordium	OMIM|617431
Microglia	MGAT4A	2.891336321	0	Enzyme: Glucosaminyltransferase	BrainSpLMD|11320	OMIM|604623
Microglia	WIPF1	2.889863837	0	Cytoskeletal associated protein	BrainSpLMD|7456	OMIM|602357;HPO|7456|Abnormal platelet morphology, Abnormality of eosinophils, Autoimmunity, Autosomal recessive inheritance, Bruising susceptibility, Chronic diarrhea, Chronic obstructive pulmonary disease, Chronic otitis media, Decreased number of CD8+ T cells, Dyspnea, Eczema, Fatigue, Fever, Hematemesis, Hematochezia, Hemolytic anemia, Immunodeficiency, Inflammation of the large intestine, Lymphopenia, Microcytic anemia, Petechiae, Prolonged bleeding time, Recurrent infections, Recurrent respiratory infections, Reduced natural killer cell activity, Sinusitis, Specific learning disability, Spontaneous hematomas, Thrombocytopenia
Microglia	ARID5A	2.883833151	0	DNA binding protein;Transcription regulatory protein	BrainSpLMD|10865;Eurexp|euxassay_019589|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, ventral grey horn, vestibulocochlear VIII	OMIM|611583
Microglia	DUSP1	2.88252927	0	Dual specificity phosphatase	BrainSpLMD|1843;Eurexp|euxassay_018571|brain, clavicle, femur, glossopharyngeal IX, mesenchyme, neural retina, nucleus pulposus, olfactory, rib, spinal cord, tongue, trigeminal V, vagus X	OMIM|600714
Microglia	PLD1	2.87422881	0	Enzyme: Phosphodiesterase	BrainSpLMD|5337	OMIM|602382;HPO|5337|Arteria lusoria, Autosomal recessive inheritance, Edema, Hydronephrosis, Hydrops fetalis, Hydroureter, Inguinal hernia, Mitral stenosis, Mitral valve prolapse, Patent foramen ovale, Tricuspid regurgitation, Tricuspid valve prolapse, Urethral diverticulum
Microglia	DOCK10	2.873829186	0	Unclassified	BrainSpLMD|55619;Eurexp|euxassay_011695|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thymus primordium, thyroid, trigeminal V, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|611518
Microglia	B3GNT5	2.873095135	0	Enzyme: Galactosyltransferase	BrainSpLMD|84002	OMIM|615333
Microglia	UCP2	2.872997408	0	Transport/cargo protein	BrainSpLMD|7351;Eurexp|euxassay_010584|liver, olfactory, vibrissa, vomeronasal organ	OMIM|601693;HPO|7351|Abnormality of fatty-acid metabolism, Coma, Diarrhea, Hepatomegaly, Hyperhidrosis, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Neonatal hypoglycemia, Pallor, Pancreatic islet-cell hyperplasia, Progressive neurologic deterioration, Tachycardia, Vomiting
Microglia	GRN	2.871891089	0	Growth factor	BrainSpLMD|2896	OMIM|138945;HPO|2896|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Aggressive behavior, Agitation, Alexia, Anxiety, Apathy, Aphasia, Apraxia, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral cortical atrophy, Collectionism, Depressivity, Dilation of lateral ventricles, Disinhibition, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, EEG abnormality, EEG with continuous slow activity, Echolalia, Emotional blunting, Frontotemporal cerebral atrophy, Frontotemporal dementia, Generalized myoclonic seizures, Gliosis, Grammar-specific speech disorder, Hallucinations, Hyperorality, Hypersexuality, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Mutism, Neuronal loss in central nervous system, Optic atrophy, Parkinsonism, Perseveration, Personality changes, Polyphagia, Poor speech, Progressive language deterioration, Rapidly progressive, Repetitive compulsive behavior, Restlessness, Restrictive behavior, Retinal dystrophy, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold, Visual impairment
Microglia	RASSF4	2.865549906	0	Unclassified	BrainSpLMD|83937;Eurexp|euxassay_006256|dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, respiratory, trigeminal V, ventral grey horn, ventricular layer	OMIM|610559
Microglia	APOBEC3C	2.845464937	0	Enzyme: Deaminase	BrainSpLMD|27350	OMIM|607750
Microglia	CREG1	2.837638863	0	Secreted polypeptide	BrainSpLMD|8804;Eurexp|euxassay_003469|liver	
Microglia	MITF	2.830758427	0	Transcription factor	BrainSpLMD|4286;Eurexp|euxassay_019482|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, olfactory, spinal cord, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|17111	OMIM|156845;COSMIC||melanoma, Waardenburg syndrome type 2, Tietz syndrome;HPO|4286|Abnormality of the hair, Abnormality of the lymphatic system, Albinism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Blue irides, Coloboma, Congenital sensorineural hearing impairment, Dry skin, Freckling, Frontal bossing, Generalized hypopigmentation, Generalized hypotonia, Giant melanosomes in melanocytes, Heterochromia iridis, Heterogeneous, Hypermetropia, Hypopigmentation of the fundus, Hypopigmentation of the skin, Hypopigmented skin patches, Hypoplasia of the fovea, Hypoplastic iris stroma, Macrocephaly, Melanoma, Micrognathia, Multiple lentigines, Nevus, Nystagmus, Ocular albinism, Optic nerve dysplasia, Osteopetrosis, Partial albinism, Photophobia, Posteriorly rotated ears, Preauricular pit, Premature graying of hair, Reduced visual acuity, Sensorineural hearing impairment, Shallow orbits, Strabismus, Synophrys, Underdeveloped nasal alae, Variable expressivity, Vestibular hypofunction, Visual impairment, White eyebrow, White eyelashes, White forelock, Wide nasal bridge, X-linked inheritance
Microglia	NPC2	2.826944579	0	Transport/cargo protein	BrainSpLMD|10577;Eurexp|euxassay_001964|cervical, cervico-thoracic, left lung, mantle layer, marginal layer, right lung, stomach, thoracic, trachea, ventral grey horn, ventricular layer	OMIM|601015;HPO|10577|Abnormal cholesterol homeostasis, Ataxia, Autosomal recessive inheritance, Bone-marrow foam cells, Cataplexy, Dementia, Dysarthria, Dysphagia, Dystonia, Fetal ascites, Foam cells in visceral organs and CNS, Generalized hypotonia, Global developmental delay, Hepatomegaly, Heterogeneous, Intellectual disability, Loss of speech, Low cholesterol esterification rates, Neurofibrillary tangles, Onset, Perseveration, Prolonged neonatal jaundice, Psychosis, Respiratory failure, Sea-blue histiocytosis, Seizures, Spasticity, Splenomegaly, Stereotypy, Vertical supranuclear gaze palsy
Microglia	ARHGAP27	2.824633466	0	GTPase activating protein	BrainSpLMD|201176;Eurexp|euxassay_011913|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones	OMIM|610591
Microglia	PTPRE	2.819814405	0	Receptor tyrosine phosphatase	BrainSpLMD|5791	OMIM|600926
Microglia	PDGFA	2.810171896	0	Growth factor	Eurexp|euxassay_004036|anterior, axial skeleton, calyces, choroid invagination, choroid plexus, conjunctival sac, diaphragm, epidermis, epithelium, external, footplate, handplate, incisor, left lung, midgut, molar, naso-lacrimal duct, olfactory, oral epithelium, orbito-sphenoid, paraxial mesenchyme, pharyngo-tympanic tube, posterior, primitive seminiferous tubules, rest of mesenchyme, right lung, roof plate, skeletal muscle, stomach, submandibular gland primordium, thymus primordium, trachea, urethra, vertebral axis muscle system, vibrissa, vomeronasal organ;BrainSpMouseDev|18356	OMIM|173430
Microglia	ARHGAP4	2.808219074	0	GTPase activating protein	BrainSpLMD|393	OMIM|300023
Microglia	IER5	2.800719058	0	Transcription regulatory protein	BrainSpLMD|51278	OMIM|607177
Microglia	MAFB	2.800275322	0	Transcription regulatory protein	BrainSpLMD|9935;Eurexp|euxassay_019539|dorsal root ganglion, glossopharyngeal IX, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lung, mantle layer, metanephros, neural retina, pancreas, trigeminal V, urethra, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16430	OMIM|608968;COSMIC||MM;HPO|9935|Abnormal vertebral segmentation and fusion, Ankle swelling, Anteverted nares, Arthralgia, Autosomal dominant inheritance, Blepharophimosis, Cachexia, Camptodactyly of finger, Carpal osteolysis, Deeply set eye, EMG abnormality, Gait disturbance, Hypertension, Hypoplasia of the maxilla, Impaired ocular abduction, Impaired ocular adduction, Limitation of joint mobility, Low posterior hairline, Metacarpal osteolysis, Metatarsal osteolysis, Micrognathia, Nephropathy, Oculomotor nerve palsy, Osteolysis involving tarsal bones, Osteopenia, Pes cavus, Proptosis, Proteinuria, Renal insufficiency, Sensorineural hearing impairment, Short palpebral fissure, Slender long bone, Strabismus, Triangular face, Ulnar deviation of the hand, Wrist swelling
Microglia	USP2	2.795112712	0	Ubiquitin proteasome system protein	BrainSpLMD|9099	OMIM|604725
Microglia	LINC00152	2.790803504	0			
Microglia	AP1B1	2.789770854	0	Transport/cargo protein	BrainSpLMD|162	OMIM|600157
Microglia	PLXDC2	2.788169826	0	Cell surface receptor	BrainSpLMD|84898;Eurexp|euxassay_002573|body-wall mesenchyme, choroid plexus, cochlear duct, diaphragm, epidermis, epithelium, humerus, mantle layer, submandibular gland primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|606827
Microglia	IFI16	2.769641113	0	Transcription regulatory protein	BrainSpLMD|3428;Eurexp|euxassay_019604|Meckel's cartilage, adrenal gland, axial skeleton, exoccipital bone, femur, fibula, hip, humerus, mesenchyme, nasal septum, orbito-sphenoid, otic capsule, radius, rib, scapula, temporal bone, thymus primordium, tibia, turbinate, ulna	OMIM|147586
Microglia	JUNB	2.763284974	0	Transcription factor	BrainSpLMD|3726	OMIM|165161
Microglia	MMRN1	2.761221928	0	Secreted polypeptide	BrainSpLMD|22915;Eurexp|euxassay_009396|associated mesenchyme, lateral wall, meninges, mesenchyme	OMIM|601456
Microglia	DNASE2	2.746175134	0	Deoxyribonuclease	BrainSpLMD|1777;Eurexp|euxassay_018821|olfactory, vibrissa	OMIM|126350
Microglia	SERPINF1	2.726858241	0	Serine protease	BrainSpLMD|5176;Eurexp|euxassay_018445|cardiovascular system, gland, integumental system, limb, liver and biliary system, meninges, mesenchyme, reproductive system, skeleton, tail, vertebral axis muscle system, visceral organ	OMIM|172860;HPO|5176|Autosomal recessive inheritance, Beaking of vertebral bodies, Biconcave vertebral bodies, Coxa vara, Increased susceptibility to fractures, Joint laxity, Protrusio acetabuli, Vertebral compression fractures
Microglia	RP11.480C22.1	2.724205442	0			
Microglia	FTLP3	2.718462389	0			
Microglia	CTSL	2.718223939	0	Cysteine protease	BrainSpLMD|1514	OMIM|116880
Microglia	GAS6	2.708055974	0	Growth factor	BrainSpLMD|2621;Eurexp|euxassay_002796|calyces, choroid plexus, clavicle, epithelium, fundus region, hindlimb, lateral recess, limb, metencephalon, midgut, pelvis, rectum, stomach, telencephalon, testis, thymus primordium, vertebral axis muscle system, vibrissa	OMIM|600441
Microglia	PLA2G16	2.707268852	0	Unclassified	BrainSpLMD|11145	OMIM|613867
Microglia	NEU1	2.690796217	0	Enzyme: Hydrolase	BrainSpLMD|4758;Eurexp|euxassay_003345|loop, midgut	OMIM|608272;HPO|4758|Abnormal form of the vertebral bodies, Aminoaciduria, Ascites, Ataxia, Autosomal recessive inheritance, Bone-marrow foam cells, Cardiomegaly, Cardiomyopathy, Cataract, Cherry red spot of the macula, Coarse facial features, Corneal opacity, Decreased nerve conduction velocity, Delayed skeletal maturation, Dysmetria, Dysostosis multiplex, EEG abnormality, Epiphyseal stippling, Facial edema, Frontal bossing, Gait disturbance, Generalized hypotonia, Hepatomegaly, Hernia, Hydrops fetalis, Hyperkeratosis, Hyperreflexia, Increased urinary O-linked sialopeptides, Inguinal hernia, Intellectual disability, Muscle weakness, Muscular hypotonia, Myoclonus, Neurological speech impairment, Nystagmus, Pectus carinatum, Progressive visual loss, Proteinuria, Retinopathy, Scoliosis, Seizures, Sensorineural hearing impairment, Short stature, Short thorax, Skeletal dysplasia, Skeletal muscle atrophy, Slurred speech, Splenomegaly, Thick lower lip vermilion, Tremor, Urinary excretion of sialylated oligosaccharides, Vacuolated lymphocytes, Vascular skin abnormality, Visual impairment, Wide nasal bridge
Microglia	FOSB	2.689215205	0	Transcription factor	BrainSpLMD|2354	OMIM|164772
Microglia	LHFPL2	2.686294992	0	Unclassified	BrainSpLMD|10184	OMIM|609718
Microglia	TBXAS1	2.685149617	0	Enzyme: Synthase	BrainSpLMD|6916	OMIM|274180;HPO|6916|Abnormal cortical bone morphology, Abnormal form of the vertebral bodies, Abnormality of femur morphology, Abnormality of immune system physiology, Abnormality of pelvic girdle bone morphology, Abnormality of the metaphysis, Abnormality of tibia morphology, Anemia, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone marrow hypocellularity, Bowing of the long bones, Bruising susceptibility, Craniofacial hyperostosis, Diaphyseal dysplasia, Diaphyseal thickening, Epistaxis, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Phenotypic variability, Prolonged bleeding time, Refractory anemia, Thrombocytopenia
Microglia	HK2	2.683930507	0	Enzyme: Phosphotransferase	BrainSpLMD|3099	OMIM|601125
Microglia	ARRB2	2.682442286	0	Adapter molecule	BrainSpLMD|409;Eurexp|euxassay_000309|dorsal root ganglion, retina	OMIM|107941
Microglia	LIPA	2.674294185	0	Enzyme: Lipase	BrainSpLMD|3988	OMIM|613497;HPO|3988|Abdominal distention, Adrenal calcification, Anemia, Arteriosclerosis, Ascites, Autosomal recessive inheritance, Bone-marrow foam cells, Cachexia, Cirrhosis, Death in infancy, Diarrhea, Esophageal varix, Failure to thrive, Global developmental delay, Growth delay, Hepatic failure, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Malnutrition, Nausea and vomiting, Protuberant abdomen, Pulmonary arterial hypertension, Splenomegaly, Steatorrhea, Vacuolated lymphocytes, Vomiting
Microglia	WDR91	2.655269721	0	Unclassified	BrainSpLMD|29062	OMIM|616303
Microglia	VASP	2.652852414	0	Cytoskeletal associated protein	BrainSpLMD|7408;BrainSpMouseDev|22080	OMIM|601703
Microglia	IL16	2.652510854	0	Cytokine	BrainSpLMD|3603;Eurexp|euxassay_005661|axial skeleton, cartilage, cartilaginous ring, clavicle, dorsal root ganglion, epidermal component, incisor, larynx, limb, mesenchyme, molar, pectoral girdle and thoracic body wall, pharynx, thymus primordium, trachea, vibrissa;BrainSpMouseDev|15943	SFARI||Autism, No category;OMIM|603035
Microglia	RP11.386I14.4	2.634392098	0			
Microglia	PLIN2	2.624790262	0	Storage protein	BrainSpLMD|123	OMIM|103195
Microglia	GIMAP4	2.609829866	0	GTPase	BrainSpLMD|55303	OMIM|608087
Microglia	IER2	2.605612432	0	Transcription factor	BrainSpLMD|9592;Eurexp|euxassay_013742|cochlea, incisor, molar, submandibular gland primordium, utricle, vestibular component, vibrissa	
Microglia	ARHGAP26	2.602188593	0	GTPase activating protein	BrainSpLMD|23092;Eurexp|euxassay_016565|mantle layer, olfactory	OMIM|605370;COSMIC||AML, MDS;HPO|23092|Autosomal dominant inheritance, Juvenile myelomonocytic leukemia, Somatic mutation
Microglia	RGS2	2.598232962	0	GTPase activating protein	BrainSpLMD|5997;Eurexp|euxassay_012997|adrenal gland, floor plate, floorplate, mantle layer, pineal primordium, pituitary	OMIM|600861
Microglia	HSPA1B	2.593728629	0	Chaperone	BrainSpLMD|3304	OMIM|603012
Microglia	RNF135	2.589276909	0	Unclassified	BrainSpLMD|84282	SFARI||Autism, 4 - Minimal evidence;OMIM|611358;HPO|84282|Abnormal facial shape, Autosomal dominant inheritance, Broad forehead, Broad nasal tip, Downslanted palpebral fissures, Large for gestational age, Long philtrum, Macrocephaly, Overgrowth, Thick lower lip vermilion, Thin upper lip vermilion
Microglia	RREB1	2.586838271	0	Transcription factor	BrainSpLMD|6239;Eurexp|euxassay_007568|mantle layer;BrainSpMouseDev|44592	OMIM|602209;HPO|6239|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
Microglia	GLIPR1	2.585085435	0	Unclassified	BrainSpLMD|11010	OMIM|602692
Microglia	IGF1	2.581953439	0	Growth factor	BrainSpLMD|3479;BrainSpMouseDev|15773	OMIM|147440;HPO|3479|Abnormal facial shape, Abnormality of metabolism/homeostasis, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Clinodactyly, Clinodactyly of the 5th finger, Congenital onset, Congenital sensorineural hearing impairment, Decreased body weight, Delayed eruption of teeth, Delayed skeletal maturation, Failure to thrive, Hyperactivity, Hypogonadism, Insulin resistance, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Microcephaly, Micrognathia, Motor delay, Neonatal hyperbilirubinemia, Osteopenia, Osteoporosis, Prelingual sensorineural hearing impairment, Ptosis, Radial deviation of finger, Sensorineural hearing impairment, Severe intrauterine growth retardation, Severe postnatal growth retardation, Short attention span, Short stature, Small for gestational age, Small placenta
Microglia	PPP1R15A	2.578965029	0	Cell cycle control protein	BrainSpLMD|23645	OMIM|611048
Microglia	APOE	2.56735246	0	Transport/cargo protein	BrainSpLMD|348;Eurexp|euxassay_003949|choroid plexus, left, right;BrainSpMouseDev|11603	OMIM|107741;HPO|348|Abnormality of the eye, Absent axillary hair, Alzheimer disease, Atheromatosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Blepharitis, Cerebral amyloid angiopathy, Cirrhosis, Corneal arcus, Decreased circulating high-density lipoprotein levels, Dementia, Diabetes mellitus, Edema, Glomerulopathy, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Increased circulating low-density lipoprotein levels, Late onset, Long-tract signs, Mediastinal lymphadenopathy, Mesangial hypercellularity, Middle age onset, Neurofibrillary tangles, Obesity, Parkinsonism, Petechiae, Proteinuria, Pulmonary infiltrates, Renal insufficiency, Sea-blue histiocytosis, Sleep-wake cycle disturbance, Splenomegaly, Subcutaneous nodule, Tendon xanthomatosis, Thrombocytopenia, Xanthelasma
Microglia	SIRPA	2.566492427	0	Cell surface receptor	BrainSpLMD|140885;Eurexp|euxassay_013621|embryo, floor plate, floorplate, mantle layer, marginal layer	OMIM|602461;COSMIC||HNSCC, colorectal cancer, Lung SCC
Microglia	PLSCR1	2.562625423	0	Integral membrane protein	BrainSpLMD|5359;Eurexp|euxassay_008744|calyces, hindgut, midgut, pelvis	OMIM|604170
Microglia	TSC22D3	2.562515739	0	Transcription regulatory protein	BrainSpLMD|1831;Eurexp|euxassay_000517|facial bones primordia, optic foramen, orbital fissure, orbito-sphenoid, otic capsule, turbinate, vestibular component;BrainSpMouseDev|14381	OMIM|300506
Microglia	MIR6723	2.558839425	0			
Microglia	MAP3K8	2.55874322	0	Serine/threonine kinase	BrainSpLMD|1326	OMIM|191195;HPO|1326|Alveolar cell carcinoma, Autosomal recessive inheritance
Microglia	B2M	2.558434154	0	MHC complex protein	BrainSpLMD|567	OMIM|109700;COSMIC||DLBCL, melanoma, colorectal adenocarcinoma, Immunodeficiency 43;HPO|567|Autonomic bladder dysfunction, Autonomic dysregulation, Autosomal dominant inheritance, Autosomal recessive inheritance, Bowel incontinence, Bronchiectasis, Cholestasis, Chronic constipation, Chronic diarrhea, Edema, Gastrointestinal dysmotility, Gastrointestinal hemorrhage, Generalized amyloid deposition, Hematuria, Hepatomegaly, Hypertension, Hypoalbuminemia, Hypoplasia of the ulna, Hypoproteinemia, IgG deficiency, Intermittent diarrhea, Keratoconjunctivitis sicca, Malabsorption, Nephropathy, Nephrotic syndrome, Orthostatic hypotension due to autonomic dysfunction, Proteinuria, Radial bowing, Recurrent respiratory infections, Skin rash, Splenomegaly, Variable expressivity, Vertigo, Weight loss, Xerostomia
Microglia	NR4A2	2.539096248	0	Nuclear receptor	BrainSpLMD|4929;BrainSpMouseDev|17994	OMIM|601828;HPO|4929|Bradykinesia, Constipation, Dementia, Depressivity, Dysarthria, Dysphagia, Dystonia, Insidious onset, Lewy bodies, Mask-like facies, Neuronal loss in central nervous system, Parkinsonism, Personality changes, Postural instability, Progressive, Resting tremor, Rigidity, Short stepped shuffling gait, Sleep disturbance, Sporadic, Substantia nigra gliosis, Urinary urgency, Weak voice
Microglia	RIN2	2.522262409	0	Guanine nucleotide exchange factor	BrainSpLMD|54453	OMIM|610222;HPO|54453|Abnormality of the sternum, Alopecia, Autosomal recessive inheritance, Bruising susceptibility, Coarse facial features, Cognitive impairment, Cutis laxa, Decreased body weight, Downslanted palpebral fissures, Eclabion, Gingival overgrowth, High palate, High pitched voice, Hirsutism, Hyperextensible skin, Infra-orbital fold, Irregular dentition, Joint hypermobility, Long philtrum, Muscular hypotonia, Palpebral edema, Pes planus, Prolonged bleeding time, Redundant skin, Scoliosis, Short stature, Sparse and thin eyebrow, Sparse hair, Sparse scalp hair, Thick lower lip vermilion, Umbilical hernia, Upper eyelid edema
Microglia	HSPA1A	2.518679658	0	Chaperone	BrainSpLMD|3303;Eurexp|euxassay_005687|adrenal gland, testis, vibrissa	OMIM|140550
Microglia	KCTD12	2.517877697	0	Ion channel	BrainSpLMD|115207;BrainSpMouseDev|88550	OMIM|610521
Microglia	TPP1	2.49942721	0	Serine protease	BrainSpLMD|1200;Eurexp|euxassay_002620|ventricular layer	OMIM|607998;HPO|1200|Abnormal nervous system electrophysiology, Ataxia, Autosomal recessive inheritance, Cerebral atrophy, Curvilinear intracellular accumulation of autofluorescent lipopigment storage material, Delayed speech and language development, Developmental regression, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigment, Myoclonus, Progressive visual loss, Retinal degeneration, Seizures, Undetectable electroretinogram
Microglia	CPED1	2.499051153	0	Unclassified	BrainSpLMD|79974;Eurexp|euxassay_009303|capsule, dermis, ear, footplate, handplate, head mesenchyme, left lung, meninges, mesenchyme, midgut, right lung, stomach, vibrissa	
Microglia	ITM2B	2.496663096	0	Integral membrane protein	BrainSpLMD|9445	OMIM|603904;HPO|9445|Ataxia, Autosomal dominant inheritance, Cerebral amyloid angiopathy, Dementia, Hearing impairment, Hypertonia, Intention tremor, Neurofibrillary tangles, Optic disc pallor, Photophobia, Posterior polar cataract, Progressive neurologic deterioration, Psychosis, Retinal dystrophy, Rigidity, Spasticity, Tremor
Microglia	CREM	2.494017078	0	Transcription factor	BrainSpLMD|1390	OMIM|123812
Microglia	RHOB	2.492268787	0	GTPase	BrainSpLMD|388;Eurexp|euxassay_016450|floor plate, floorplate, mantle layer, marginal layer	OMIM|165370
Microglia	KLF6	2.488300221	0	Transcription factor	BrainSpLMD|1316;Eurexp|euxassay_018886|mantle layer, marginal layer;BrainSpMouseDev|23602	OMIM|602053;COSMIC||prostate, glioma;HPO|1316|Autosomal dominant inheritance, Prostate cancer, Somatic mutation, Stomach cancer
Microglia	CNPY3	2.484819107	0	Unclassified	BrainSpLMD|10695;Eurexp|euxassay_013821|mantle layer	OMIM|610774
Microglia	KLF4	2.476269427	0	Transcription regulatory protein	BrainSpLMD|9314;Eurexp|euxassay_005264|arm, bladder, clavicle, cranium, extraembryonic component, femur, fibula, footplate, forelimb, handplate, hindlimb, lower leg, mandible, maxilla, molar, oesophagus, orbito-sphenoid, palatal shelf, penis, rest of mesenchyme, rib, tibia, vertebral axis muscle system, vibrissa;BrainSpMouseDev|16373	OMIM|602253;COSMIC||meningioma
Microglia	ARID3A	2.460073173	0	Transcription factor	BrainSpLMD|1820	OMIM|603265
Microglia	MAFF	2.459185196	0	Transcription factor	BrainSpLMD|23764	OMIM|604877
Microglia	GM2A	2.452679056	0	Transport/cargo protein	BrainSpLMD|2760;Eurexp|euxassay_012796|cortex, floor plate, floorplate, ovary, thymus primordium, ventricular layer	OMIM|613109;HPO|2760|Abnormal involuntary eye movements, Abnormal pyramidal signs, Anxiety, Apathy, Aspiration, Autosomal recessive inheritance, Blindness, Cerebral atrophy, Cherry red spot of the macula, Chorea, Cognitive impairment, Dementia, Developmental regression, Dystonia, Exaggerated startle response, GM2-ganglioside accumulation, Generalized hypotonia, Glabellar reflex, Global developmental delay, Hyperacusis, Hyperreflexia, Inappropriate behavior, Infantile axial hypotonia, Loss of speech, Muscular hypotonia of the trunk, Neurodegeneration, Paralysis, Poor head control, Postnatal growth retardation, Primitive reflex, Progressive spastic quadriplegia, Seizures, Short stature, Spastic tetraparesis, Variable expressivity
Microglia	RNU6.946P	2.450501326	0			
Microglia	MGST2	2.436126494	0	Enzyme: Glutathione transferase	BrainSpLMD|4258	OMIM|601733
Microglia	CTD.2006C1.2	2.434823939	0			
Microglia	GAL3ST4	2.423837795	0	Enzyme: Sulphotransferase	BrainSpLMD|79690	OMIM|608235
Microglia	SAMHD1	2.412994748	0	GTPase	BrainSpLMD|25939;Eurexp|euxassay_010565|left lung, right lung, thymus primordium	OMIM|606754;HPO|25939|Arrhinencephaly, Arthropathy, Autosomal dominant inheritance, Autosomal recessive inheritance, Basal ganglia calcification, Chilblain lesions, Cleft eyelid, Cutaneous photosensitivity, Deep white matter hypodensities, Dry skin, Feeding difficulties in infancy, Flexion contracture, Global developmental delay, Hemiplegia/hemiparesis, Intellectual disability, profound, Irritability, Leukodystrophy, Leukoencephalopathy, Muscular hypotonia of the trunk, Porencephalic cyst, Scaling skin, Spasticity, Thrombocytopenia, Variable expressivity
Microglia	REL	2.402746204	0	Transcription factor	BrainSpLMD|5966	OMIM|164910;COSMIC||Hodgkin lymphoma
Microglia	RIN3	2.401790453	0	GTPase activating protein	BrainSpLMD|79890	OMIM|610223
Microglia	GNG7	2.379126159	0	G protein	BrainSpLMD|2788;Eurexp|euxassay_002997|mantle layer, marginal layer	OMIM|604430
Microglia	OGFRL1	2.378113777	0	Unclassified	BrainSpLMD|79627;Eurexp|euxassay_010875|dorsal root ganglion, mantle layer, trigeminal V	
Microglia	SNORD99	2.369861315	0			
Microglia	MT.TV	2.364628552	0			
Microglia	PLEKHA2	2.360053803	0		Eurexp|euxassay_003375|Meckel's cartilage, clavicle, dorsal root ganglion, facial VII, frontal bone primordium, glossopharyngeal IX, incisor, orbito-sphenoid, palatal shelf, testis, thymus primordium, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ	OMIM|607773
Microglia	AAED1	2.354062676	0	Unclassified		
Microglia	ITPR2	2.34147875	0	Transport/cargo protein	BrainSpLMD|3709;Eurexp|euxassay_013833|mantle layer	OMIM|600144;HPO|3709|Anhidrosis, Autosomal recessive inheritance, Generalized anhidrosis, Heat intolerance
Microglia	STK10	2.336292904	0	Serine/threonine kinase	BrainSpLMD|6793;Eurexp|euxassay_011746|brain, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, left lung, metanephros, olfactory, right lung, skeletal muscle, spinal cord, trigeminal V, vagus X, ventricle, vertebral axis muscle system, vestibulocochlear VIII	OMIM|603919
Microglia	MANBA	2.32741766	0	Enzyme: Glycosidase	BrainSpLMD|4126	OMIM|609489;HPO|4126|Abnormal facial shape, Abnormality of metabolism/homeostasis, Aggressive behavior, Angiokeratoma, Autosomal recessive inheritance, Generalized hypotonia, Hearing impairment, Hyperactivity, Hypoplasia of the abdominal wall musculature, Increased urinary disaccharide excretion, Intellectual disability, Muscular hypotonia, Neurological speech impairment, Recurrent infections, Recurrent respiratory infections, Seizures, Tortuosity of conjunctival vessels
Microglia	GPX1	2.313467981	0	Enzyme: Peroxidase	BrainSpLMD|2876;BrainSpMouseDev|14551	SFARI||Autism, 4 - Minimal evidence;OMIM|138320;HPO|2876|Autosomal recessive inheritance, Compensated hemolytic anemia, Neonatal hyperbilirubinemia
Microglia	NANS	2.29859706	0	Enzyme: Synthase	BrainSpLMD|54187;Eurexp|euxassay_012123|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, metatarsus, naris, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rest of skin, rib, scapula, tarsus, tibia, turbinate bones, vault of skull	OMIM|605202;HPO|54187|Abnormality of the pinna, Abnormality of the skin, Ataxia, Autosomal recessive inheritance, Brachycephaly, Carpal bone hypoplasia, Coarse facial features, Epicanthus, Flared metaphysis, Flat acetabular roof, Generalized hypotonia, Hirsutism, Intellectual disability, severe, Irregular epiphyses, Irregular vertebral endplates, Long fibula, Low anterior hairline, Low posterior hairline, Metaphyseal irregularity, Microcephaly, Narrow iliac wings, Nystagmus, Platyspondyly, Posterior scalloping of vertebral bodies, Prominent forehead, Short femoral neck, Short neck, Small epiphyses, Spondyloepimetaphyseal dysplasia, Synophrys, Thick lower lip vermilion, Wide nose
Microglia	IFRD1	2.296188144	0	Regulatory/other subunit	BrainSpLMD|3475;Eurexp|euxassay_003205|axial muscle, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, molar, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|603502
Microglia	MPP1	2.282020418	0	Structural protein		OMIM|305360
Microglia	CYFIP1	2.275691836	0	Unclassified	BrainSpLMD|23191;Eurexp|euxassay_000633|incisor	SFARI||Autism, No category;OMIM|606322
Microglia	GNB4	2.269700269	0	G protein	BrainSpLMD|59345;Eurexp|euxassay_006820|aortic valve, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, mitral valve, neural retina, pulmonary valve, thoracic, tricuspid valve, trigeminal V, vagus X, valve, ventral grey horn;BrainSpMouseDev|14472	OMIM|610863;HPO|59345|Autosomal dominant inheritance, Axonal regeneration, Distal sensory impairment, Hammertoe, Hyporeflexia, Onion bulb formation, Pes cavus, Slow progression, Steppage gait
Microglia	USP36	2.243207963	0	Ubiquitin proteasome system protein	BrainSpLMD|57602	OMIM|612543
Microglia	ITGB2.AS1	2.242841502	0			
Microglia	TLN1	2.214310151	0	Cytoskeletal associated protein	BrainSpLMD|7094;Eurexp|euxassay_011794|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	OMIM|186745
Microglia	COTL1	2.210121096	0	Unclassified	BrainSpLMD|23406;Eurexp|euxassay_010951|cortex, embryo, epithelium, lens, mantle layer, marginal layer, midgut, neural retina, olfactory, stomach, thymus primordium, trachea, ventricular layer;BrainSpMouseDev|47883	OMIM|606748
Microglia	TGFBR2	2.210044332	0	Receptor serine/threonine kinase	BrainSpLMD|7048;BrainSpMouseDev|21572	OMIM|190182;COSMIC||head and neck, colorectal, colorectal, Loeys-Dietz syndrome 2;HPO|7048|Abdominal pain, Abnormality of the iris, Abnormality of the sternum, Abnormality of the voice, Anxiety, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Arachnodactyly, Arterial dissection, Arterial tortuosity, Ascending aortic dissection, Attention deficit hyperactivity disorder, Atypical scarring of skin, Autosomal dominant inheritance, Bifid uvula, Blue sclerae, Brachydactyly, Camptodactyly, Camptodactyly of finger, Cardiomegaly, Chest pain, Clinodactyly of the 5th toe, Colon cancer, Constipation, Coronary artery disease, Cough, Craniosynostosis, Cutis marmorata, Cystic medial necrosis of the aorta, Death in early adulthood, Death in infancy, Depressivity, Dermal translucency, Descending aortic dissection, Dilatation of ascending aorta, Esophageal carcinoma, Exertional dyspnea, Exotropia, Fatigue, Feeding difficulties in infancy, Gastrointestinal hemorrhage, Generalized arterial tortuosity, Glioblastoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, High palate, Hypertelorism, Hypertension, Hypertonia, Increased intracranial pressure, Irritability, Joint contracture of the hand, Joint laxity, Left ventricular failure, Malabsorption, Malar flattening, Micrognathia, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Oral cleft, Paroxysmal dyspnea, Patent ductus arteriosus, Pes planus, Proptosis, Pulmonary artery aneurysm, Retrognathia, Scoliosis, Seizures, Squamous cell carcinoma, Striae distensae, Talipes equinovarus, Tall stature, Uterine rupture, Weight loss
Microglia	RP5.998N21.4	2.208365771	0			
Microglia	ATF5	2.207571981	0	Transcription factor	BrainSpLMD|22809;Eurexp|euxassay_019493|axial muscle, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, lung, mantle layer, medulla, neural retina, olfactory, submandibular gland primordium, trigeminal V, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|71668	OMIM|606398
Microglia	RNF213	2.202980058	0	Unclassified	BrainSpLMD|57674	OMIM|613768;COSMIC||ALCL;HPO|57674|Abnormality of the cerebral vasculature, Intellectual disability, Seizures, Telangiectasia, Ventriculomegaly
Microglia	ASAH1	2.202706879	0	Enzyme: Hydrolase	BrainSpLMD|427;Eurexp|euxassay_004481|lung	OMIM|613468;HPO|427|Areflexia, Arthralgia, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Cherry red spot of the macula, Decreased muscle mass, Degeneration of anterior horn cells, Dementia, Difficulty walking, EEG abnormality, EMG abnormality, Facial palsy, Failure to thrive, Frequent falls, Gait disturbance, Generalized myoclonic seizures, Gowers sign, Hepatomegaly, Hoarse cry, Intellectual disability, Irritability, Joint stiffness, Joint swelling, Juvenile onset, Kyphosis, Laryngomalacia, Lipogranulomatosis, Motor delay, Myoclonus, Neurological speech impairment, Nystagmus, Oral-pharyngeal dysphagia, Osteoporosis, Periarticular subcutaneous nodules, Progressive, Progressive distal muscular atrophy, Recurrent respiratory infections, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scoliosis, Short stature, Spinal muscular atrophy, Splenomegaly, Tongue fasciculations, Tremor, Variable expressivity
Microglia	SLC2A3	2.18937733	0	Membrane transport protein	BrainSpLMD|6515	OMIM|138170;HPO|6515|Abnormality of movement, Abnormality of the voice, Behavioral abnormality, Cerebral cortical atrophy, Dementia, Developmental regression, EEG abnormality, Spasticity
Microglia	FMNL3	2.181669525	0	Unclassified	BrainSpLMD|91010	OMIM|616288
Microglia	BTG2	2.165304155	0	Cell cycle control protein	BrainSpLMD|7832;Eurexp|euxassay_000263|alar plate, diencephalon, epithelium, hindbrain, liver, lung, metencephalon, midbrain, neural retina, oesophagus, oral epithelium, spinal cord, stomach, telencephalon, ventricular layer	OMIM|601597
Microglia	TRIB1	2.159252012	0	Dual specificity kinase	BrainSpLMD|10221;Eurexp|euxassay_010583|cortex, mantle layer, molar, submandibular gland primordium, thymus primordium, thyroid, valve, vibrissa	OMIM|609461
Microglia	KLF10	2.127163251	0	Transcription factor	BrainSpLMD|7071	OMIM|601878
Microglia	IL6ST	2.123061086	0	Cytokine receptor	BrainSpLMD|3572;BrainSpMouseDev|15968	OMIM|600694;COSMIC||hepatocellular carcinoma
Microglia	ST6GAL1	2.111409014	0	Enzyme: Sialyltransferase	BrainSpLMD|6480	OMIM|109675
Microglia	NAMPT	2.101286235	0	Cytokine	BrainSpLMD|10135;Eurexp|euxassay_004817|axial muscle	OMIM|608764
Microglia	HSPH1	2.089356022	0	Heat shock protein;Chaperone	BrainSpLMD|10808	OMIM|610703
Microglia	CAPZB	2.084162426	0	Cytoskeletal protein	BrainSpLMD|832;Eurexp|euxassay_011596|thymus primordium, thyroid	OMIM|601572
Microglia	SERPINB6	2.071248679	0	Protease inhibitor	BrainSpLMD|5269;Eurexp|euxassay_012500|adrenal gland, aorta, diaphragm, dorsal root ganglion, epithelium, eyelid, facial VII, glossopharyngeal IX, hindgut, incisor, left lung, mantle layer, mesenchyme, midgut, naris, naso-lacrimal duct, ovary, rectum, right lung, submandibular gland primordium, testis, thymus primordium, trachea, trigeminal V, umbilical artery, vagus X, ventral grey horn	OMIM|173321;HPO|5269|Autosomal recessive inheritance, Progressive hearing impairment
Microglia	GLUL	2.048113809	0	Enzyme: Aminotransferase	BrainSpLMD|2752;BrainSpMouseDev|14421	OMIM|138290;HPO|2752|Apnea, Autosomal recessive inheritance, Bradycardia, Brain atrophy, CNS hypomyelination, Depressed nasal bridge, Encephalopathy, Generalized hypotonia, Hyperammonemia, Hyperreflexia, Hypoplasia of the corpus callosum, Low-set ears, Periventricular cysts, Respiratory insufficiency, Seizures, Severe global developmental delay, Skin rash, Subependymal cysts, Ventriculomegaly, Wide nasal bridge
Microglia	LIMS1	2.046898905	0	Adapter molecule	BrainSpLMD|3987;Eurexp|euxassay_003410|4th ventricle, bladder, gut, heart, incisor, liver, liver and biliary system, lung, metanephros, molar, stomach, submandibular gland primordium, tongue, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|74984	OMIM|602567
Microglia	ZFP36L2	2.034916147	0	Transcription factor	BrainSpLMD|678	OMIM|612053
Microglia	ZFP36L1	2.034800564	0	Transcription factor	BrainSpLMD|677;Eurexp|euxassay_007310|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|11978	OMIM|601064
Microglia	MTND1P23	2.021249164	0			
Microglia	LST1	1.939733911	0	Cell surface receptor	BrainSpLMD|7940	OMIM|109170
Microglia	MCL1	1.932640945	0	Chaperone	BrainSpLMD|4170	OMIM|159552
Microglia	RNF149	1.917131289	0	Ubiquitin proteasome system protein	BrainSpLMD|284996	
Microglia	JUN	1.897982089	0	Transcription factor	BrainSpLMD|3725;Eurexp|euxassay_017995|mantle layer, metacarpus, metatarsus, olfactory, phalanx, ventral grey horn, ventricular layer;BrainSpMouseDev|16249	OMIM|165160;COSMIC||sarcoma
Microglia	LILRB1	1.876250324	0	Immunoglobulin	BrainSpLMD|10859	OMIM|604811
Microglia	ANXA5	1.866427571	0	Calcium binding protein	BrainSpLMD|308;Eurexp|euxassay_002158|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, meninges, renal/urinary system, reproductive system, respiratory system, tail	OMIM|131230
Microglia	TLN2	1.832399198	0	Cytoskeletal associated protein	BrainSpLMD|83660	OMIM|607349
Microglia	DNAJB1	1.824678835	0	Heat shock protein	BrainSpLMD|3337	OMIM|604572;COSMIC||fibrolamellar hepatocellular carcinoma
Microglia	NXF1	1.81906973	0	RNA binding protein	BrainSpLMD|10482	OMIM|602647
Microglia	IER3	1.809206305	0	Unclassified	BrainSpLMD|8870	OMIM|602996
Microglia	SWAP70	1.804318108	0	Guanine nucleotide exchange factor	BrainSpLMD|23075	OMIM|604762
Microglia	SUMO2P17	1.801627489	0			
Microglia	CTSD	1.772974186	0	Aspartic protease	BrainSpLMD|1509;Eurexp|euxassay_000816|embryo	OMIM|116840;HPO|1509|Abnormality of metabolism/homeostasis, Apnea, Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Congenital onset, Increased neuronal autofluorescent lipopigment, Intellectual disability, progressive, Intellectual disability, severe, Low-set ears, Mental deterioration, Microcephaly, Neuronal loss in central nervous system, Premature closure of fontanelles, Respiratory failure, Retinal atrophy, Rigidity, Rod-cone dystrophy, Sloping forehead, Spasticity, Status epilepticus, Visual loss, Wide nasal bridge
Microglia	AKAP13	1.752745851	0	Guanine nucleotide exchange factor	BrainSpLMD|11214	OMIM|604686
Microglia	MAF	1.744635389	0	Transcription factor	BrainSpLMD|4094;Eurexp|euxassay_015869|choroid plexus, dorsal grey horn, facial VII, incisor, lens, mandible, mantle layer, maxilla, metanephros, molar, nasal septum, rib, trigeminal V, ventricular layer;BrainSpMouseDev|16902	OMIM|177075;COSMIC||MM;HPO|4094|Autosomal dominant inheritance, Brachycephaly, Broad eyebrow, Broad philtrum, Cataract, Cerulean cataract, Congenital cataract, Cortical pulverulent cataract, Depressed nasal bridge, Flat face, High forehead, Hypertelorism, Intellectual disability, Iris coloboma, Long philtrum, Low-set ears, Malar flattening, Microcornea, Midface retrusion, Myopia, Narrow mouth, Ptosis, Radioulnar synostosis, Seizures, Sensorineural hearing impairment, Short nose, Short stature, Smooth philtrum, Thin upper lip vermilion, Wide nasal bridge
Microglia	DAB2	1.682514783	0	Adapter molecule	BrainSpLMD|1601	OMIM|601236
Microglia	IFITM2	1.657678065	0	Integral membrane protein	BrainSpLMD|10581;Eurexp|euxassay_003572|mantle layer, thymus primordium	OMIM|605578
Microglia	ABI1	1.638317122	0	Adapter molecule	BrainSpLMD|10006	OMIM|603050;COSMIC||AML
Microglia	LGMNP1	1.573336436	0			
Microglia	RASSF3	1.498163587	0	Unclassified	BrainSpLMD|283349;Eurexp|euxassay_002334|mesenchyme, tongue	OMIM|607019
Microglia	FTH1P8	1.486224443	0			
Microglia	SORL1	1.479528508	0	Integral membrane protein	BrainSpLMD|6653;Eurexp|euxassay_012191|bladder, calyces, epithelium, left lung, mantle layer, midgut, olfactory, pelvis, rectum, right lung, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, ureter, ventricular layer;BrainSpMouseDev|20422	OMIM|602005
Microglia	HSPD1P1	1.469219395	0			
Microglia	EGR1	1.441400386	0	Transcription factor	BrainSpLMD|1958;Eurexp|euxassay_008911|mesenchyme;BrainSpMouseDev|13431	OMIM|128990
Microglia	RNU2.1	1.426716986	0			
Microglia	FTH1P7	1.400989657	0			
Microglia	DOCK4	1.398444678	0	GTPase activating protein	BrainSpLMD|9732	SFARI||Autism, No category;OMIM|607679
Microglia	UBC	1.367922167	0	Ubiquitin proteasome system protein	BrainSpLMD|7316	OMIM|191340
Microglia	HSP90AA1	1.347096213	0	Chaperone	BrainSpLMD|3320;Eurexp|euxassay_010007|cervical, cervico-thoracic, choroid plexus, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, mandible, mantle layer, midgut, molar, neural retina, olfactory, pancreas, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, vagus X, ventral grey horn, ventricular layer, vomeronasal organ	OMIM|140571;COSMIC||NHL
Microglia	FTH1P2	1.333619435	0			
Microglia	MTRNR2L8	1.330542862	0			
Microglia	FTH1P10	1.311211719	0			
Microglia	DHRS3	1.302060708	0	Enzyme: Dehydrogenase	BrainSpLMD|9249;Eurexp|euxassay_011877|epithelium, fundus region, sublingual gland primordium, urethra, ventricular layer	OMIM|612830
Microglia	RP11.1033A18.1	1.295333282	0			
Microglia	HLA.C	1.241903963	0			
Microglia	U1	1.227549538	0			
Microglia	FTH1P20	1.178690213	0			
Microglia	PABPC1	1.176193763	0	RNA binding protein	Eurexp|euxassay_005676|embryo	OMIM|604679;COSMIC||HNSCC, biliary tract carcinoma
Microglia	CD68	1.164684144	0	Integral membrane protein	BrainSpLMD|968;Eurexp|euxassay_010548|mesenchyme	OMIM|153634
Microglia	RP11.16F15.2	0.908648584	0			
Microglia	TMSB4XP8	0.820989054	0	Cytoskeletal associated protein		
Microglia	MEF2C	0.481846492	0	Transcription regulatory protein	BrainSpLMD|4208;Eurexp|euxassay_018172|axial skeleton, clavicle, diaphragm, dorsal grey horn, glossopharyngeal IX, incisor, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metatarsus, orbito-sphenoid, phalanx, rest of mesenchyme, rib, skeletal muscle, trigeminal V, vault of skull, vertebral axis muscle system, vibrissa;BrainSpMouseDev|17029	SFARI||Autism, 4 - Minimal evidence;OMIM|600662;HPO|4208|Anteverted nares, Autistic behavior, Autosomal dominant inheritance, Broad forehead, Delayed speech and language development, Depressed nasal bridge, Downturned corners of mouth, Generalized hypotonia, High forehead, Hypertelorism, Hypoplasia of the corpus callosum, Inability to walk, Intellectual disability, severe, Low-set ears, Motor delay, Muscular hypotonia, Poor eye contact, Seizures, Short chin, Short nose, Short philtrum, Sporadic, Stereotypy, Upslanted palpebral fissure, Ventriculomegaly
Microglia	FTLP2	0.441772185	0			
Microglia	Metazoa_SRP	0.34532117	0			
Microglia	TNFAIP2	3.285013032	1.11E-16	Unclassified	BrainSpLMD|7127;Eurexp|euxassay_011806|cochlea, naris, olfactory, saccule	OMIM|603300
Microglia	RP11.737O24.3	2.486434365	1.11E-16			
Microglia	NR4A3	2.363602798	1.11E-16	Nuclear receptor	BrainSpLMD|8013;Eurexp|euxassay_016920|floorplate, marginal layer;BrainSpMouseDev|17891	OMIM|600542;COSMIC||extraskeletal myxoid chondrosarcoma;HPO|8013|Chondrosarcoma, Somatic mutation
Microglia	HSPB1	2.323234412	1.11E-16	Chaperone	BrainSpLMD|3315	OMIM|602195;HPO|3315|Adult onset, Areflexia, Areflexia of lower limbs, Autosomal dominant inheritance, Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Difficulty walking, Distal amyotrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Distal sensory impairment, EMG: chronic denervation signs, EMG: neuropathic changes, Fasciculations, Foot dorsiflexor weakness, Heterogeneous, Hyporeflexia, Hyporeflexia of lower limbs, Impaired pain sensation, Impaired temperature sensation, Limb fasciculations, Lower limb muscle weakness, Muscle cramps, Paresis of extensor muscles of the big toe, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Reduced tendon reflexes, Slow progression, Split hand, Steppage gait, Talipes equinovarus, Ulnar claw, Upper limb amyotrophy
Microglia	PNRC1	2.146902849	1.11E-16	Unclassified	BrainSpLMD|10957	OMIM|606714
Microglia	MBP	2.07276315	1.11E-16	Structural protein	BrainSpLMD|4155;Eurexp|euxassay_015084|basal columns, brachial plexus, dorsal root ganglion, glossopharyngeal IX, left lung, mantle layer, mesenchyme, oesophagus, right lung, trigeminal V, vagus X;BrainSpMouseDev|16965	OMIM|159430
Microglia	LPXN	2.063549947	1.11E-16	Adapter molecule	BrainSpLMD|9404	OMIM|605390
Microglia	CD63	1.654453721	1.11E-16	Integral membrane protein	BrainSpLMD|967	OMIM|155740
Microglia	FOS	1.558169238	1.11E-16	Transcription factor	BrainSpLMD|2353;Eurexp|euxassay_012634|mandible, maxilla;BrainSpMouseDev|14058	OMIM|164810;HPO|2353|Abnormality of skin pigmentation, Acanthosis nigricans, Accelerated skeletal maturation, Bone cyst, Broad foot, Diabetes mellitus, Generalized hirsutism, Growth hormone excess, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hyperinsulinemia, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Insulin resistance, Intellectual disability, Large hands, Lipoatrophy, Mandibular prognathia, Precocious puberty, Prominent supraorbital ridges, Skeletal muscle hypertrophy
Microglia	TMSB4X	0.990485417	1.11E-16	Cytoskeletal associated protein		OMIM|300159
Microglia	EEF1A1P6	0.44226083	1.11E-16			
Microglia	BEST1	2.965367603	2.22E-16	Membrane transport protein	BrainSpLMD|7439	OMIM|607854;HPO|7439|Abnormal electroretinogram, Abnormality of chorioretinal pigmentation, Abnormality of color vision, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Attenuation of retinal blood vessels, Atypical scarring of skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cataract, Choroideremia, Conductive hearing impairment, Cystoid macular degeneration, Decreased light- and dark-adapted electroretinogram amplitude, Glaucoma, Hyperinsulinemia, Hypermetropia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Iris hypopigmentation, Keratoconus, Macular dystrophy, Metamorphopsia, Microcornea, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Pigmentary retinopathy, Progressive night blindness, Pulverulent cataract, Reduced visual acuity, Retinal arteriolar constriction, Retinal arteriolar occlusion, Retinal detachment, Retinal flecks, Retinal pigment epithelial atrophy, Rod-cone dystrophy, Sensorineural hearing impairment, Strabismus, Visual field defect, Visual impairment, Vitelliform-like macular lesions, Vitreous hemorrhage, Wide nasal bridge
Microglia	PTPRJ	2.644663854	2.22E-16	Receptor tyrosine phosphatase	BrainSpLMD|5795;Eurexp|euxassay_009431|calyces, pelvis	OMIM|600925
Microglia	CCNL1	1.802530664	2.22E-16	RNA binding protein	BrainSpLMD|57018	OMIM|613384
Microglia	NFATC2	1.672602379	2.22E-16	Transcription factor	BrainSpLMD|4773;Eurexp|euxassay_013856|lip;BrainSpMouseDev|17786	OMIM|600490;COSMIC||Ewing sarcoma
Microglia	MAP1LC3B	1.989218046	3.33E-16	Unclassified	BrainSpLMD|81631	OMIM|609604
Microglia	MEF2A	1.662045423	3.33E-16	Transcription regulatory protein	BrainSpLMD|4205;BrainSpMouseDev|17027	OMIM|600660
Microglia	HLA.A	1.262565283	3.33E-16			
Microglia	RNF144B	3.025868528	4.44E-16	Ubiquitin proteasome system protein	BrainSpLMD|255488;Eurexp|euxassay_001593|Meckel's cartilage, basisphenoid bone, bladder, exoccipital bone, frontal bone primordium, incisor, molar, neural retina, oral epithelium, orbito-sphenoid, otic capsule, pectoral girdle and thoracic body wall, rib, tongue, turbinate, vault of skull, ventricular layer, vibrissa	
Microglia	DAGLB	2.102613296	4.44E-16	Enzyme: Lipase	BrainSpLMD|221955;Eurexp|euxassay_004046|brain, liver, spinal cord	OMIM|614016
Microglia	C12orf75	1.882519583	4.44E-16	Integral membrane protein	BrainSpLMD|387882	
Microglia	HSPD1	1.732488666	4.44E-16	Heat shock protein	BrainSpLMD|3329;BrainSpMouseDev|15285	OMIM|118190;HPO|3329|Apnea, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Choreoathetosis, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hyperreflexia, Impaired vibration sensation in the lower limbs, Intellectual disability, profound, Leukodystrophy, Lower limb muscle weakness, Lower limb spasticity, Neonatal onset, Nystagmus, Postnatal microcephaly, Progressive, Progressive spasticity, Seizures, Spastic gait, Spastic paraplegia, Strabismus, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
Microglia	TPT1	1.113217213	4.44E-16	Calcium binding protein	BrainSpLMD|7178	OMIM|600763
Microglia	CAPG	2.89423577	7.77E-16	Cytoskeletal associated protein	BrainSpLMD|822;Eurexp|euxassay_014310|epithelium, incisor, mandible, maxilla, molar, oral epithelium, pharyngo-tympanic tube	OMIM|153615
Microglia	ZFHX3	1.525373964	7.77E-16	DNA binding protein	BrainSpLMD|463;Eurexp|euxassay_016590|axial skeleton, cervical, cervico-thoracic, cornea, dorsal root ganglion, exoccipital bone, facial VII, glossopharyngeal IX, head mesenchyme, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, mesenchyme, metatarsus, neural retina, orbito-sphenoid, penis, thoracic, trigeminal V, turbinate, vagus X, vault of skull, ventral grey horn;BrainSpMouseDev|11693	OMIM|104155;COSMIC||endometrial, gastric, prostate
Microglia	EPB41L2	1.509665883	7.77E-16	Cytoskeletal protein	BrainSpLMD|2037;Eurexp|euxassay_010082|calyces, clavicle, femur, fibula, fundus region, lens, lung, mandible, maxilla, meninges, olfactory, orbito-sphenoid, pelvis, rib, roof plate, tibia, ureter	OMIM|603237
Microglia	LAP3	1.848387913	8.88E-16	Aminopeptidase	BrainSpLMD|51056;Eurexp|euxassay_002166|ventricular layer	OMIM|170250
Microglia	ZNF267	2.80312464	9.99E-16	Transcription factor	BrainSpLMD|10308	OMIM|604752
Microglia	NFKBIE	2.507414472	9.99E-16	Transcription regulatory protein	BrainSpLMD|4794;BrainSpMouseDev|17804	OMIM|604548;COSMIC||CLL, desmoplastic melanoma
Microglia	SERPINB1	2.362043499	9.99E-16	Protease inhibitor	BrainSpLMD|1992;Eurexp|euxassay_014473|3rd ventricle, 4th ventricle, choroid plexus, dermis, diencephalon, dorsal grey horn, epithalamus, foregut-midgut junction, hindgut, incisor, liver, lobe, loop, mantle layer, meninges, mesenchyme, midgut, naris, nervous system, pancreas, rectum, thymus primordium, tongue, ventricular layer, wall;BrainSpMouseDev|42065	OMIM|130135
Microglia	SERTAD1	2.386266383	1.11E-15	Cell cycle control protein	BrainSpLMD|29950	
Microglia	SLC29A1	2.741483224	1.33E-15	Membrane transport protein	BrainSpLMD|2030;Eurexp|euxassay_019687|liver, lobe, phalanx, testis, thymus primordium, tongue, vertebral axis muscle system	OMIM|602193
Microglia	ELK3	1.606639936	1.89E-15	Transcription factor	BrainSpLMD|2004;Eurexp|euxassay_019463|mesenchyme;BrainSpMouseDev|13491	OMIM|600247
Microglia	ZFAND2A	2.451853542	2.33E-15	RNA binding protein	BrainSpLMD|90637	OMIM|610699
Microglia	AC017104.2	3.139048192	3.00E-15			
Microglia	RPL5P34	1.639943421	3.00E-15			
Microglia	HEXA	2.039706033	3.77E-15	Enzyme: Hydrolase	BrainSpLMD|3073;Eurexp|euxassay_009883|mandible, maxilla	OMIM|606869;HPO|3073|Apathy, Aspiration, Autosomal recessive inheritance, Blindness, Cherry red spot of the macula, Dementia, Exaggerated startle response, GM2-ganglioside accumulation, Generalized hypotonia, Infantile onset, Muscular hypotonia, Poor head control, Psychomotor deterioration, Seizures
Microglia	RHOG	2.545814714	4.00E-15	GTPase	BrainSpLMD|391	OMIM|179505
Microglia	MKNK2	2.648440454	4.33E-15	Serine/threonine kinase	BrainSpLMD|2872	OMIM|605069
Microglia	WASF2	2.135400215	4.33E-15	Cytoskeletal associated protein	BrainSpLMD|10163	OMIM|605875
Microglia	CTD.2031P19.4	1.293195903	5.00E-15			
Microglia	SOCS6	1.352602127	6.66E-15	Adapter molecule	BrainSpLMD|9306;Eurexp|euxassay_007334|alveolar sulcus, incisor, mantle layer, molar	OMIM|605118
Microglia	PSAP	1.597251717	9.44E-15	Integral membrane protein	BrainSpLMD|5660	OMIM|176801;HPO|5660|Abnormality of eye movement, Abnormality of glycosphingolipid metabolism, Abnormality of the periventricular white matter, Anemia, Autosomal recessive inheritance, Babinski sign, CNS demyelination, Central apnea, Cerebral dysmyelination, Congenital onset, Death in childhood, Death in infancy, Decreased nerve conduction velocity, Developmental regression, Dysarthria, Dysphagia, Dystonia, Erlenmeyer flask deformity of the femurs, Fasciculations, Feeding difficulties, Gait ataxia, Generalized clonic seizures, Generalized hypotonia, Generalized tonic-clonic seizures, Global brain atrophy, Global developmental delay, Hepatomegaly, Hepatosplenomegaly, Hyperkinesis, Hyperreflexia, Hypertonia, Hypoplasia of the corpus callosum, Hyporeflexia, Increased CSF protein, Increased cerebral lipofuscin, Infantile onset, Loss of speech, Mental deterioration, Muscle weakness, Muscular hypotonia, Myoclonus, Neuronal loss in central nervous system, Osteopenia, Peripheral demyelination, Polyneuropathy, Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Seizures, Spastic tetraparesis, Splenomegaly, Thrombocytopenia, Urinary incontinence, Variable expressivity
Microglia	HVCN1	2.862582333	1.11E-14	Voltage gated channel;Integral membrane protein	BrainSpLMD|84329	OMIM|611227
Microglia	GNAI2	2.030717568	1.22E-14	GTPase;G protein	BrainSpLMD|2771;Eurexp|euxassay_018077|submandibular gland primordium, ventricular layer, vibrissa	OMIM|139360;HPO|2771|Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Paroxysmal ventricular tachycardia, Sudden cardiac death
Microglia	SNHG12	2.428902686	1.24E-14	Unclassified		
Microglia	CAST	1.548085134	1.77E-14	Protease inhibitor	BrainSpLMD|831	OMIM|114090;HPO|831|Angular cheilitis, Autosomal recessive inheritance, Epidermal acanthosis, Leukonychia, Palmoplantar keratoderma, Scaling skin
Microglia	SUMO1P3	2.642580065	2.02E-14		BrainSpLMD|474338	
Microglia	PER1	2.111121413	2.07E-14	Transcription regulatory protein	BrainSpLMD|5187;BrainSpMouseDev|18392	SFARI||Autism, 4 - Minimal evidence;OMIM|602260;COSMIC||AML, CMML
Microglia	TOR3A	2.313435587	2.16E-14	Chaperone	BrainSpLMD|64222;Eurexp|euxassay_002672|choroid plexus	OMIM|607555
Microglia	PIK3R1	1.854127196	2.49E-14	Adapter molecule	BrainSpLMD|5295;Eurexp|euxassay_003253|incisor, lobe, ventricular layer, vibrissa;BrainSpMouseDev|18473	OMIM|171833;COSMIC||glioblastoma, ovarian, colorectal;HPO|5295|Abnormality of dental enamel, Abnormality of the immune system, Abnormality of the pupil, Agammaglobulinemia, Alopecia, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Birth length less than 3rd percentile, Cataract, Chronic otitis media, Clinodactyly, Conjunctivitis, Cough, Decreased antibody level in blood, Deeply set eye, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Dental malocclusion, Diabetes mellitus, Diarrhea, Dimple chin, Downturned corners of mouth, Enlarged epiphyses, Excessive wrinkled skin, Failure to thrive, Fatigue, Fever, Frontal bossing, Glaucoma, Glucose intolerance, Hyperglycemia, Hypodontia, Hypoplasia of the iris, Hypotrichosis, Immunodeficiency, Infantile onset, Inguinal hernia, Insulin resistance, Insulin-resistant diabetes mellitus, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Lipoatrophy, Lipodystrophy, Macrotia, Megalocornea, Microdontia, Micrognathia, Midface retrusion, Myopia, Neurological speech impairment, Neutropenia, Osteomyelitis, Poor appetite, Premature skin wrinkling, Prominent forehead, Radial deviation of finger, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent skin infections, Rieger anomaly, Sensorineural hearing impairment, Severe short stature, Sinusitis, Skin rash, Small for gestational age, Telecanthus, Thin skin, Triangular face, Underdeveloped nasal alae, Weight loss, Wide nasal bridge
Microglia	NAMPTL	1.980135117	2.92E-14			
Microglia	MT.RNR1	0.665714094	3.02E-14			
Microglia	MYO15B	2.818095181	3.06E-14		BrainSpLMD|80022	
Microglia	ETF1	1.328321385	3.63E-14	Translation regulatory protein	BrainSpLMD|2107	OMIM|600285
Microglia	IL3RA	2.780567849	3.69E-14	Cytokine receptor		OMIM|430000
Microglia	ZC3HAV1	2.019086101	4.10E-14	-	BrainSpLMD|56829;Eurexp|euxassay_012472|lobe, thymus primordium	OMIM|607312
Microglia	ELL2	1.934403197	4.17E-14	Transcription factor	BrainSpLMD|22936	OMIM|601874
Microglia	PPIF	2.446745343	4.29E-14	Enzyme: Isomerase	BrainSpLMD|10105	OMIM|604486
Microglia	MYH9	2.295624555	4.74E-14	Structural protein	BrainSpLMD|4627;Eurexp|euxassay_009371|cornea, hindgut, lung, metanephros, midgut, molar, naris, olfactory, pharyngo-tympanic tube, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trachea, vibrissa;BrainSpMouseDev|17653	OMIM|160775;COSMIC||ALCL, Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome;HPO|4627|Abnormal thrombosis, Abnormality of the eye, Abnormality of the urinary system, Autosomal dominant inheritance, Bruising susceptibility, Cataract, Congenital cataract, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Hematuria, High-frequency hearing impairment, High-frequency sensorineural hearing impairment, Hypertension, Juvenile onset, Leukocyte inclusion bodies, Macrothrombocytopenia, Menorrhagia, Microscopic hematuria, Myocardial infarction, Nephritis, Neutrophil inclusion bodies, Progressive sensorineural hearing impairment, Prolonged bleeding time, Proteinuria, Stage 5 chronic kidney disease, Thrombocytopenia
Microglia	SNORD3A	1.509231027	5.01E-14			OMIM|180710
Microglia	SLC25A33	2.131879306	5.38E-14	Unclassified	BrainSpLMD|84275	OMIM|610816
Microglia	SERF2	1.155688267	5.98E-14	RNA binding protein	BrainSpLMD|10169;Eurexp|euxassay_007238|cranium	OMIM|605054
Microglia	CD81	2.313514162	6.02E-14	Enzyme: Oxidase	BrainSpLMD|975;Eurexp|euxassay_012630|choroid plexus, mantle layer, stomach, ventral grey horn, ventricular layer	OMIM|186845;HPO|975|Anal atresia, Autoimmune thrombocytopenia, Autosomal recessive inheritance, Brachycephaly, Bronchiectasis, Chronic otitis media, Decreased antibody level in blood, Elevated hepatic transaminases, Hemolytic anemia, Immunodeficiency, Lymphadenopathy, Lymphopenia, Pneumonia, Purpura, Recurrent bacterial infections, Recurrent bronchitis, Recurrent respiratory infections, Splenomegaly
Microglia	NAGA	2.617317869	6.17E-14	Enzyme: Glycosidase	BrainSpLMD|4668;Eurexp|euxassay_018778|choroid invagination, choroid plexus, clavicle, femur, humerus, mandible, maxilla, orbito-sphenoid, rib, roof plate	OMIM|104170;HPO|4668|Abnormal pyramidal signs, Abnormality of brainstem morphology, Abnormality of extrapyramidal motor function, Abnormality of the eye, Adult onset, Aminoaciduria, Angiokeratoma corporis diffusum, Autism, Autosomal recessive inheritance, Axonal degeneration, Cardiomegaly, Cataract, Cerebral atrophy, Coarse facial features, Cognitive impairment, Cortical visual impairment, Depressed nasal bridge, Developmental regression, Distal muscle weakness, Distal sensory impairment, Distal sensory impairment of all modalities, Dry skin, Generalized amyotrophy, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hepatomegaly, Hyperkeratosis, Hyperreflexia, Hypertrophic cardiomyopathy, Increased urinary O-linked sialopeptides, Infantile onset, Intellectual disability, Intellectual disability, mild, Intellectual disability, severe, Lip telangiectasia, Lymphedema, Muscle weakness, Muscular hypotonia, Myoclonus, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Osteopenia, Papule, Peripheral axonal neuropathy, Peripheral neuropathy, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus, Subcutaneous nodule, Telangiectasia of the oral mucosa, Telangiectasia of the skin, Thick lower lip vermilion, Thick vermilion border, Tinnitus, Vertigo, White mater abnormalities in the posterior periventricular region
Microglia	RP11.734J24.1	0.489177929	7.13E-14			
Microglia	ABCC4	2.417506039	8.18E-14	Transport/cargo protein	BrainSpLMD|10257	OMIM|605250
Microglia	HERPUD1	1.699431172	9.15E-14	Integral membrane protein	BrainSpLMD|9709;Eurexp|euxassay_005097|clavicle, mandible, maxilla, olfactory, orbito-sphenoid	OMIM|608070;COSMIC||prostate
Microglia	ID2	1.455322816	9.70E-14	Transcription regulatory protein	BrainSpLMD|3398;BrainSpMouseDev|15675	OMIM|600386
Microglia	CD55	2.065650949	1.14E-13	Complement protein	BrainSpLMD|1604;Eurexp|euxassay_009544|aorta, associated mesenchyme, bladder, left lung, liver, mesenchyme, mesentery, metanephros, oesophagus, olfactory, palatal shelf, right lung, stomach, trigeminal V	OMIM|125240;HPO|1604|Abdominal pain, Abnormality of the intestine, Ascites, Autosomal recessive inheritance, Budd-Chiari syndrome, Clubbing, Diarrhea, Edema, Growth delay, Hypoproteinemia, Iron deficiency anemia
Microglia	SNHG5	1.497882711	1.31E-13			OMIM|613263
Microglia	AXL	1.815717725	1.38E-13	Receptor tyrosine kinase	BrainSpLMD|558;Eurexp|euxassay_001756|cardiovascular system, gland, head mesenchyme, integumental system, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|26110	OMIM|109135;HPO|558|Autosomal dominant inheritance, Autosomal recessive inheritance, Cryptorchidism, Decreased testicular size, Gynecomastia, Hypogonadotrophic hypogonadism, Micropenis, Primary amenorrhea, Sparse axillary hair, Sparse pubic hair
Microglia	HSPA5	1.638067874	1.44E-13	Chaperone	BrainSpLMD|3309	OMIM|138120
Microglia	VMP1	2.055975627	1.50E-13	Integral membrane protein	BrainSpLMD|81671	OMIM|611753
Microglia	CALR	1.560645927	1.57E-13	Chaperone	BrainSpLMD|811	OMIM|109091;COSMIC||MPN, MDS;HPO|811|Abnormal platelet morphology, Abnormality of the skeletal system, Acrocyanosis, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Chest pain, Hypertension, Impaired platelet aggregation, Increased megakaryocyte count, Myelofibrosis, Myeloproliferative disorder, Myocardial infarction, Paresthesia, Prolonged bleeding time, Somatic mutation, Splenomegaly, Thrombocytosis, Transient ischemic attack, Venous thrombosis
Microglia	C5orf45	2.655934345	1.57E-13			
Microglia	GYPC	3.309228843	1.65E-13	Integral membrane protein	BrainSpLMD|2995;Eurexp|euxassay_015555|brain, lobe	OMIM|110750
Microglia	RNU2.63P	3.252548701	1.87E-13			
Microglia	CECR1	1.178454564	1.97E-13			
Microglia	ENPP2	2.262542224	2.15E-13	Enzyme: Phosphodiesterase	BrainSpLMD|5168;Eurexp|euxassay_002856|4th ventricle, bladder, calyces, cartilaginous ring, choroid plexus, clavicle, ductus deferens, incisor, laryngeal, larynx, lateral recess, mesenchyme, molar, muscle, oral epithelium, penis, phalanx, skeletal muscle, trachea, ventral grey horn, ventricular layer, vibrissa	OMIM|601060
Microglia	EIF5	1.096391402	2.41E-13	Translation regulatory protein;GTPase activating protein	BrainSpLMD|1983	OMIM|601710
Microglia	RPL31P47	2.727859808	3.45E-13			
Microglia	PNP	2.291376036	3.65E-13	Enzyme: Phosphorylase	BrainSpLMD|4860;Eurexp|euxassay_003605|anterior, cortex, left, retina, right, thymus primordium, thyroid, vibrissa	OMIM|164050;HPO|4860|Abnormality of B cell physiology, Ataxia, Autoimmune hemolytic anemia, Autoimmune neutropenia, Autoimmune thrombocytopenia, Autosomal recessive inheritance, Behavioral abnormality, Cerebral vasculitis, Failure to thrive, Generalized hypotonia, Hypouricemia, Impaired T cell function, Intellectual disability, Lymph node hypoplasia, Lymphoma, Lymphopenia, Motor delay, Otitis media, Pneumonia, Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent urinary tract infections, Recurrent viral infections, Sinusitis, Spastic diplegia, Splenomegaly, Tetraparesis, Tremor
Microglia	CLIC1	1.776575572	3.94E-13	Intracellular ligand gated channel	BrainSpLMD|1192	OMIM|602872
Microglia	TACC1	1.363670278	4.19E-13	Cell cycle control protein	BrainSpLMD|6867	OMIM|605301
Microglia	PRR13	2.137531682	4.28E-13	Unclassified	BrainSpLMD|54458;Eurexp|euxassay_008170|embryo	OMIM|610459
Microglia	LYST	1.664217468	4.39E-13	Adapter molecule	BrainSpLMD|1130;Eurexp|euxassay_013972|axial skeleton	OMIM|606897;HPO|1130|Abnormality of coagulation, Abnormality of multiple cell lineages in the bone marrow, Amblyopia, Anemia, Areflexia, Autosomal recessive inheritance, Bruising susceptibility, Cranial nerve paralysis, Decreased nerve conduction velocity, Edema, Epistaxis, Fever, Foot dorsiflexor weakness, Gait disturbance, Generalized hypopigmentation, Giant melanosomes in melanocytes, Gingival bleeding, Gingivitis, Global developmental delay, Hepatomegaly, Hypopigmentation of hair, Hypopigmentation of the skin, Hyporeflexia, Immunodeficiency, Intellectual disability, Iris hypopigmentation, Jaundice, Leukopenia, Lymphadenopathy, Lymphoma, Macular hypoplasia, Neurodegeneration, Neutropenia, Nystagmus, Ocular albinism, Paresthesia, Periodontitis, Peripheral neuropathy, Photophobia, Progressive peripheral neuropathy, Recurrent bacterial skin infections, Recurrent cutaneous abscess formation, Recurrent respiratory infections, Recurrent systemic pyogenic infections, Reduced visual acuity, Seizures, Skin ulcer, Splenomegaly, Strabismus, Thrombocytopenia, Tremor, Visual impairment, White hair
Microglia	COLGALT1	1.7062963	4.53E-13	Unclassified	BrainSpLMD|79709	OMIM|617531
Microglia	GPX1P1	1.20275816	5.08E-13			
Microglia	FOXO1	2.613810098	5.22E-13	Transcription factor	BrainSpLMD|2308;Eurexp|euxassay_008976|vomeronasal organ;BrainSpMouseDev|35738	OMIM|136533;COSMIC||alveolar rhabdomyosarcoma;HPO|2308|Alveolar rhabdomyosarcoma, Autosomal recessive inheritance
Microglia	DIAPH2	1.838867411	5.43E-13	Ligand	BrainSpLMD|1730	OMIM|300108;HPO|1730|Premature ovarian insufficiency, Secondary amenorrhea, X-linked dominant inheritance
Microglia	PLK3	2.029201156	5.90E-13	Serine/threonine kinase	BrainSpLMD|1263	OMIM|602913
Microglia	HNRNPRP1	0.346558695	6.75E-13			
Microglia	RB1	2.179724494	7.35E-13	Transcription regulatory protein	BrainSpLMD|5925;Eurexp|euxassay_005526|olfactory, tongue, vertebral axis muscle system, vibrissa;BrainSpMouseDev|19408	OMIM|614041;COSMIC||retinoblastoma, sarcoma, breast, small cell lung carcinoma, retinoblastoma, sarcoma, breast, small cell lung carcinoma;HPO|5925|Abnormal dermatoglyphics, Abnormal lactate dehydrogenase activity, Abnormality of cardiovascular system morphology, Abnormality of metabolism/homeostasis, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphysis, Autosomal dominant inheritance, Brachydactyly, Cataract, Cleft palate, Clinodactyly of the 5th finger, Elevated alkaline phosphatase, Epicanthus, Ewing's sarcoma, Finger syndactyly, Hypertelorism, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Joint swelling, Leukemia, Leukocoria, Low-set ears, Lymphoma, Microcephaly, Micrognathia, Microphthalmia, Muscular hypotonia, Neoplasm of the lung, Osteolysis, Osteosarcoma, Pain, Pinealoma, Prominent nasal bridge, Protruding ear, Ptosis, Retinal calcification, Retinoblastoma, Short neck, Short stature, Somatic mutation, Sporadic, Thickened helices, Transitional cell carcinoma of the bladder, Trigonocephaly, Vitreous hemorrhage, Wide nasal bridge
Microglia	STOM	1.805404721	8.85E-13	Integral membrane protein	BrainSpLMD|2040;Eurexp|euxassay_005540|bladder, hindgut, left, midgut, rectum, right, wall	OMIM|133090;HPO|2040|Autosomal dominant inheritance, Hemolytic anemia, Hepatomegaly, Hyperbilirubinemia, Increased intracellular sodium, Increased red cell osmotic fragility, Jaundice, Reticulocytosis, Splenomegaly, Stomatocytosis
Microglia	ENTPD1	1.517191029	8.86E-13	Enzyme: Hydrolase	BrainSpLMD|953	OMIM|601752;HPO|953|Aggressive behavior, Autosomal recessive inheritance, Delayed puberty, Dysarthria, Gait disturbance, Intellectual disability, Intellectual disability, moderate, Skeletal muscle atrophy
Microglia	SLC1A3	0.656375834	1.20E-12	Transport/cargo protein	BrainSpLMD|6507;Eurexp|euxassay_001899|mantle layer, thymus primordium, tongue, ventral grey horn, ventricular layer;BrainSpMouseDev|20274	OMIM|600111;HPO|6507|Autosomal dominant inheritance, Cerebellar hypoplasia, Diplopia, Dysarthria, Episodic ataxia, Generalized hypotonia, Hemiparesis, Hemiplegia, Migraine, Motor delay, Nausea, Phonophobia, Photophobia, Seizures, Slurred speech, Truncal ataxia, Vertigo, Vomiting
Microglia	SIPA1L2	1.385649342	1.23E-12	GTPase activating protein	BrainSpLMD|57568;Eurexp|euxassay_006320|mantle layer, marginal layer, thymus primordium, ventricular layer;BrainSpMouseDev|89268	OMIM|611609
Microglia	ZCCHC6	1.524885046	1.32E-12	DNA binding protein	BrainSpLMD|79670;Eurexp|euxassay_014361|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, carpus, clavicle, femur, fibula, footplate, humerus, hyoid bone, metacarpus, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|613467
Microglia	LITAF	1.692548721	1.46E-12	Transcription factor	BrainSpLMD|9516;Eurexp|euxassay_013657|axial skeleton, incisor, molar, submandibular gland primordium, urethra, ventricular layer, vestibular component, vibrissa	OMIM|603795;HPO|9516|Autosomal dominant inheritance, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Juvenile onset, Onion bulb formation, Pes cavus, Segmental peripheral demyelination/remyelination
Microglia	RPS26P43	2.593738249	1.49E-12			
Microglia	MAPKAPK2	2.335921697	1.71E-12	Serine/threonine kinase	BrainSpLMD|9261	OMIM|602006
Microglia	EIF4A1	1.901388806	1.96E-12	Translation regulatory protein	BrainSpLMD|1973	OMIM|602641
Microglia	TMBIM1	2.909288121	2.02E-12	Unclassified	BrainSpLMD|64114;Eurexp|euxassay_010366|epithelium, naris, stomach, valve	OMIM|610364
Microglia	PFN1P1	1.115173927	2.46E-12			
Microglia	FRMD4A	1.341012428	2.82E-12	Cytoskeletal associated protein	BrainSpLMD|55691;Eurexp|euxassay_001880|dorsal root ganglion, glossopharyngeal IX, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|616305;HPO|55691|Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Ataxia, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Congenital microcephaly, Everted lower lip vermilion, Global developmental delay, Hirsutism, Intellectual disability, Long eyelashes, Low anterior hairline, Low-set ears, Narrow forehead, Posteriorly rotated ears, Protruding ear, Sparse hair, Strabismus, Thick eyebrow, Upper eyelid edema
Microglia	SLC43A2	1.947192231	2.86E-12	Transport/cargo protein	BrainSpLMD|124935;Eurexp|euxassay_019695|cervical, cervico-thoracic, dorsal root ganglion, ductus deferens, facial VII, glossopharyngeal IX, lung, medulla, metanephros, neural retina, olfactory, pancreas, thoracic, trigeminal V, urethra, vagus X, ventricular layer, vomeronasal organ	OMIM|610791
Microglia	HEXB	2.421727224	2.88E-12	Enzyme: Hydrolase	BrainSpLMD|3074;Eurexp|euxassay_011735|brain, mesenchyme, spinal cord, sternum	OMIM|606873;HPO|3074|Abnormality of glycosphingolipid metabolism, Ataxia, Blindness, Cardiomegaly, Cherry red spot of the macula, Chronic diarrhea, Coarse facial features, Dysarthria, Episodic abdominal pain, Fasciculations, Hepatosplenomegaly, Hyperhidrosis, Hyperreflexia, Hypohidrosis, Impaired thermal sensitivity, Impotence, Macrocephaly, Macroglossia, Muscle weakness, Orthostatic hypotension, Progressive psychomotor deterioration, Skeletal muscle atrophy, Urinary incontinence
Microglia	CTB.119C2.1	2.177947706	3.17E-12			
Microglia	TMSB4XP1	0.595980921	3.17E-12	-	BrainSpLMD|7115	
Microglia	ALDH16A1	1.647234437	3.58E-12	Unclassified	BrainSpLMD|126133	OMIM|613358
Microglia	EEF1A1P9	0.318741234	3.77E-12			
Microglia	TPCN1	2.366445362	4.04E-12	Voltage gated channel	BrainSpLMD|53373	OMIM|609666
Microglia	NLRP1	2.885830236	4.28E-12	Unclassified	BrainSpLMD|22861	OMIM|606636;HPO|22861|Antinuclear antibody positivity, Autoimmune hemolytic anemia, Autosomal dominant inheritance, Autosomal recessive inheritance, Corneal neovascularization, Dry skin, Ectodermal dysplasia, Epidermal acanthosis, Failure to thrive, Follicular hyperkeratosis, Growth delay, Hyperkeratosis, Increased IgA level, Keratoconjunctivitis sicca, Palmoplantar keratoderma, Parakeratosis, Photophobia, Polyarticular arthritis, Punctate keratitis, Splenomegaly, Squamous cell carcinoma, Thyroiditis, Uveitis
Microglia	PFN1	1.769616425	6.05E-12	Cytoskeletal associated protein	BrainSpLMD|5216	OMIM|176610;HPO|5216|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dysarthria, Dysphagia, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Muscle weakness, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
Microglia	BHLHE40	2.619295365	6.75E-12	Transcription factor	BrainSpLMD|8553;BrainSpMouseDev|20655	OMIM|604256
Microglia	MAST3	1.786019022	7.53E-12	Serine/threonine kinase		OMIM|612258
Microglia	MYO9B	1.80818517	8.95E-12	Motor protein	BrainSpLMD|4650	SFARI||Autism, 3 - Suggestive evidence;OMIM|602129
Microglia	NRP2	1.830115312	9.03E-12	Cell surface receptor	BrainSpLMD|8828;Eurexp|euxassay_009620|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V;BrainSpMouseDev|17954	SFARI||Autism, 4 - Minimal evidence;OMIM|602070
Microglia	HIST2H2BF	2.051821126	9.28E-12	DNA binding protein	BrainSpLMD|440689	
Microglia	PIK3CD	2.900893549	1.01E-11	Lipid Kinase	BrainSpLMD|5293;Eurexp|euxassay_012716|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602839;HPO|5293|Autosomal dominant inheritance, Bronchiectasis, Cellulitis, Decreased antibody level in blood, Immunodeficiency, Lymphadenopathy, Recurrent ear infections, Recurrent sinopulmonary infections, Splenomegaly
Microglia	RASGEF1B	1.839912306	1.04E-11	Guanine nucleotide exchange factor	BrainSpLMD|153020;Eurexp|euxassay_003547|basal plate, mantle layer, marginal layer, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|614532
Microglia	FTH1	1.544953292	1.14E-11	Storage protein	BrainSpLMD|2495	OMIM|134770;HPO|2495|Autosomal dominant inheritance, Increased serum ferritin
Microglia	NRIP3	2.194191588	1.21E-11	Unclassified	BrainSpLMD|56675;Eurexp|euxassay_008471|brachial plexus, dorsal root ganglion, facial VII, lumbo-sacral plexus, mantle layer, marginal layer, mesenchyme, olfactory, rib, submandibular gland primordium, tongue, trigeminal V, ureter, vibrissa;BrainSpMouseDev|54433	OMIM|613125
Microglia	PPT1	1.279977404	1.33E-11	Enzyme: Hydrolase	BrainSpLMD|5538;Eurexp|euxassay_018600|primitive seminiferous tubules, thymus primordium, ventricular layer	OMIM|600722;HPO|5538|Abnormality of metabolism/homeostasis, Ataxia, Autosomal recessive inheritance, Blindness, Cerebral atrophy, Decreased light- and dark-adapted electroretinogram amplitude, Depressivity, EEG abnormality, Flexion contracture, Generalized hypotonia, Global developmental delay, Hallucinations, Increased neuronal autofluorescent lipopigment, Intellectual disability, Irritability, Loss of speech, Macular degeneration, Myoclonus, Onset, Optic atrophy, Postnatal microcephaly, Progressive microcephaly, Progressive visual loss, Psychomotor deterioration, Retinal degeneration, Seizures, Sleep disturbance, Spasticity, Undetectable electroretinogram
Microglia	PLEKHO1	1.552109644	1.47E-11	Unclassified	BrainSpLMD|51177	OMIM|608335
Microglia	FNIP2	1.748958344	1.50E-11	Unclassified		OMIM|612768
Microglia	SMAP2	1.500822386	1.52E-11	GTPase activating protein	BrainSpLMD|64744;Eurexp|euxassay_004704|brain, dorsal root ganglion, glossopharyngeal IX, spinal cord, trigeminal V	OMIM|616916
Microglia	MTATP6P1	1.010852361	1.59E-11			
Microglia	PABPC4	1.156194366	1.64E-11	RNA binding protein	BrainSpLMD|8761;Eurexp|euxassay_006543|embryo	OMIM|603407
Microglia	ST3GAL6	1.683524593	1.67E-11	Enzyme: Sialyltransferase	BrainSpLMD|10402	OMIM|607156
Microglia	FAUP1	0.721352271	2.17E-11			
Microglia	GATM	1.781226785	2.18E-11	Enzyme: Amidinotransferase	BrainSpLMD|2628;Eurexp|euxassay_005674|diaphragm, footplate, frenulum, handplate, lower leg, paraxial mesenchyme, shoulder, skeletal muscle, upper arm, upper leg, vertebral axis muscle system	SFARI||Autism, No category;OMIM|602360;HPO|2628|Abnormality of creatine metabolism, Autism, Autosomal recessive inheritance, Delayed speech and language development, Failure to thrive, Global developmental delay, Infantile onset, Intellectual disability, Organic aciduria
Microglia	PDPN	1.69267876	2.20E-11	Water channel	BrainSpLMD|10630;Eurexp|euxassay_002001|axial skeleton, submandibular gland primordium, ventricular layer;BrainSpMouseDev|14502	OMIM|608863
Microglia	RP11.475C16.1	0.835773058	2.55E-11			
Microglia	MIR22HG	2.759633558	2.87E-11		BrainSpLMD|84981	
Microglia	DUSP5	1.730026605	2.92E-11	Dual specificity phosphatase	BrainSpLMD|1847;Eurexp|euxassay_013720|cortex, epithelium, left lung, mantle layer, marginal layer, molar, right lung, thymus primordium, ventricle	OMIM|603069
Microglia	RAP1A	1.598938354	2.97E-11	GTPase	BrainSpLMD|5906	OMIM|179520;HPO|5906|Abnormal dermatoglyphics, Abnormality of the cardiac septa, Butterfly vertebrae, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Conductive hearing impairment, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Hemivertebrae, High palate, Highly arched eyebrow, Hydrocephalus, Hypodontia, Joint hyperflexibility, Long eyelashes, Macrotia, Microcephaly, Microdontia, Muscular hypotonia, Protruding ear, Ptosis, Recurrent infections, Scoliosis, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Sparse lateral eyebrow, Strabismus, Ventriculomegaly, Widely spaced teeth
Microglia	RPL35AP21	0.481348144	3.16E-11			
Microglia	PRKCB	0.627048952	3.82E-11	Serine/threonine kinase	BrainSpLMD|5579;BrainSpMouseDev|18515	SFARI||Autism, 3 - Suggestive evidence;OMIM|176970;COSMIC||adult T-cell lymphoma-leukaemia
Microglia	DNAJB4	2.192988382	4.73E-11	Heat shock protein	BrainSpLMD|11080	OMIM|611327
Microglia	HSPE1P2	0.985066531	5.23E-11			
Microglia	ZNF331	1.952015591	5.84E-11	DNA binding protein	BrainSpLMD|55422	OMIM|606043;COSMIC||follicular thyroid adenoma
Microglia	ERAP1	1.923700549	5.85E-11	Aminopeptidase	BrainSpLMD|51752;Eurexp|euxassay_002116|thymus primordium	OMIM|606832;HPO|51752|Abdominal pain, Abnormal blistering of the skin, Acne, Arthralgia, Arthritis, Confusion, Fatigue, Fever, Gait disturbance, Gastrointestinal hemorrhage, Hemiparesis, Immunologic hypersensitivity, Meningitis, Migraine, Myalgia, Nausea and vomiting, Oral ulcer, Orchitis, Papule, Photophobia, Recurrent aphthous stomatitis, Subcutaneous nodule, Vasculitis, Venous thrombosis
Microglia	AC016831.7	2.36026775	5.91E-11			
Microglia	ADAM9	1.428863354	6.08E-11	Metallo protease	BrainSpLMD|8754	OMIM|602713;HPO|8754|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal recessive inheritance, Cone/cone-rod dystrophy, Nyctalopia, Photophobia, Visual impairment
Microglia	UBAC2	1.98892166	6.44E-11	Unclassified	BrainSpLMD|337867	HPO|337867|Abdominal pain, Abnormal blistering of the skin, Acne, Arthralgia, Arthritis, Confusion, Fatigue, Fever, Gait disturbance, Gastrointestinal hemorrhage, Hemiparesis, Immunologic hypersensitivity, Meningitis, Migraine, Myalgia, Nausea and vomiting, Oral ulcer, Orchitis, Papule, Photophobia, Recurrent aphthous stomatitis, Subcutaneous nodule, Vasculitis, Venous thrombosis
Microglia	DDX21	1.405412311	6.95E-11	ATPase	BrainSpLMD|9188;Eurexp|euxassay_005701|embryo	OMIM|606357
Microglia	LAMP1	1.54174273	7.31E-11	Integral membrane protein	BrainSpLMD|3916;Eurexp|euxassay_015957|dorsal root ganglion, floor plate, floorplate, glossopharyngeal IX, mandible, maxilla, neural retina, orbito-sphenoid, sternum, trigeminal V, ventral grey horn, ventricular layer	OMIM|153330
Microglia	SLC25A37	1.585026925	8.00E-11	Transport/cargo protein	BrainSpLMD|51312;Eurexp|euxassay_007768|liver, mesenchyme	OMIM|610387
Microglia	DUSP6	1.588145755	8.88E-11	Dual specificity phosphatase	BrainSpLMD|1848;Eurexp|euxassay_018723|cochlea, cornea, hindgut, incisor, intrinsic, metanephros, midgut, molar, naris, pituitary, primary choana, submandibular gland primordium, tongue, tooth, turbinate bones, vertebral axis muscle system, vibrissa;BrainSpMouseDev|43446	OMIM|602748;HPO|1848|Abnormality of body height, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Anosmia, Anterior hypopituitarism, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Depressivity, Erectile abnormalities, Eunuchoid habitus, Female hypogonadism, Gynecomastia, Hypogonadotrophic hypogonadism, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Increased female libido, Male hypogonadism, Micropenis, Non-obstructive azoospermia, Osteopenia, Osteoporosis, Primary amenorrhea, Reduced bone mineral density, Secondary amenorrhea, Sparse axillary hair, Sparse body hair, Sparse pubic hair, Wide intermamillary distance
Microglia	GAK	1.571711703	8.92E-11	Serine/threonine kinase	BrainSpLMD|2580	OMIM|602052
Microglia	RBMS1	1.253206373	9.23E-11	DNA binding protein	BrainSpLMD|5937	OMIM|602310
Microglia	ARPC2	1.121331588	1.12E-10	Cytoskeletal associated protein	BrainSpLMD|10109	OMIM|604224
Microglia	CMTM6	1.784352995	1.15E-10	Integral membrane protein	BrainSpLMD|54918	OMIM|607889
Microglia	AFF1	2.329414561	1.15E-10	Transcription factor	BrainSpLMD|4299	OMIM|159557;COSMIC||AL
Microglia	FLCN	1.897600303	1.34E-10	Unclassified	BrainSpLMD|201163	OMIM|607273;COSMIC||renal, fibrofolliculomas, trichodiscomas;HPO|201163|Abnormal renal morphology, Abnormality of abdomen morphology, Abnormality of retinal pigmentation, Abnormality of the cardiovascular system, Abnormality of the hair, Abnormality of the pleura, Autism, Autosomal dominant inheritance, Broad forehead, Delayed myelination, Dental crowding, Dental malocclusion, Downslanted palpebral fissures, Dysphasia, EEG abnormality, Echolalia, Emphysema, Expressive language delay, Failure to thrive, Feeding difficulties in infancy, Fibrofolliculoma, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hearing impairment, Hereditary nonpolyposis colorectal carcinoma, High palate, Hyperactivity, Hypermetropia, Hypertelorism, Hypocholesterolemia, Hypoplasia of the corpus callosum, Incomplete penetrance, Intellectual disability, mild, Language impairment, Mandibular prognathia, Microcephaly, Micrognathia, Multiple lipomas, Neoplasm of the stomach, Oral-pharyngeal dysphagia, Papule, Patent foramen ovale, Phenotypic variability, Pneumothorax, Poor eye contact, Prominent nasal tip, Pulmonary sequestration, Receptive language delay, Renal cell carcinoma, Renal cyst, Scoliosis, Seizures, Short stature, Skin tags, Sleep apnea, Small for gestational age, Smooth philtrum, Spontaneous pneumothorax, Sporadic, Stereotypy, Transitional cell carcinoma of the bladder, Triangular face, Trigonocephaly, Uterine leiomyosarcoma, Wide mouth
Microglia	HNRNPL	1.277724753	1.34E-10	Ribonucleoprotein	BrainSpLMD|3191	OMIM|603083
Microglia	BCAR3	2.035738102	1.36E-10	Guanine nucleotide exchange factor	BrainSpLMD|8412;Eurexp|euxassay_006211|adenohypophysis, epithelium, mantle layer, marginal layer, submandibular gland primordium, ventricular layer	OMIM|604704
Microglia	TBC1D4	1.648002801	1.42E-10	GTPase activating protein	BrainSpLMD|9882	OMIM|612465
Microglia	AC016739.2	0.626027706	1.43E-10			
Microglia	MTND4P12	0.898788212	1.53E-10			
Microglia	JAG1	2.275935349	1.86E-10	Cell surface receptor	BrainSpLMD|182;Eurexp|euxassay_015945|aorta, epidermis, extrinsic ocular muscle, intermediate grey horn, lens, mantle layer, metanephros, pharyngo-tympanic tube, pineal primordium, ventricular layer, vestibular component;BrainSpMouseDev|16222	OMIM|601920;HPO|182|Abnormal nasal morphology, Abnormality of the ribs, Areflexia, Atrial septal defect, Autosomal dominant inheritance, Axenfeld anomaly, Band keratopathy, Brachydactyly, Broad forehead, Butterfly vertebral arch, Cataract, Chorioretinal atrophy, Cirrhosis, Clinodactyly of the 5th finger, Coarctation of aorta, Cryptorchidism, Deeply set eye, Depressed nasal bridge, Dolichocephaly, Elevated hepatic transaminases, Exocrine pancreatic insufficiency, Failure to thrive, Hemivertebrae, Hepatocellular carcinoma, Hypercholesterolemia, Hypertelorism, Hypertriglyceridemia, Hypoplasia of the ulna, Incomplete penetrance, Infantile onset, Intrauterine growth retardation, Long nose, Macrotia, Microcornea, Multiple small medullary renal cysts, Myopia, Papillary thyroid carcinoma, Peripheral pulmonary artery stenosis, Pigmentary retinal deposits, Posterior embryotoxon, Preauricular pit, Prolonged neonatal jaundice, Proptosis, Reduced number of intrahepatic bile ducts, Renal dysplasia, Renal hypoplasia, Renal tubular acidosis, Short distal phalanx of finger, Specific learning disability, Strabismus, Stroke, Tetralogy of Fallot, Thin vermilion border, Triangular face, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Vesicoureteral reflux
Microglia	SYT6	1.088743392	1.95E-10	Calcium binding protein	BrainSpLMD|148281	OMIM|607718
Microglia	MGAT1	2.198991788	2.00E-10	Enzyme: Glucosaminyltransferase	BrainSpLMD|4245	OMIM|160995
Microglia	SLC20A1	1.455765691	2.05E-10	Membrane transport protein	BrainSpLMD|6574;Eurexp|euxassay_009182|brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, liver, marginal layer, metanephros, midgut, primitive seminiferous tubules, spinal cord, submandibular gland primordium, thoracic, trigeminal V, vagus X	OMIM|137570
Microglia	RPL7P32	1.295057014	2.31E-10			
Microglia	APLP2	1.069243088	2.31E-10	Integral membrane protein	BrainSpLMD|334;Eurexp|euxassay_004667|axial muscle, fundus region, submandibular gland primordium, urethra, ventral grey horn, vibrissa	OMIM|104776
Microglia	CREB3L2	1.659099401	2.45E-10	Transcription factor	BrainSpLMD|64764;BrainSpMouseDev|83997	OMIM|608834;COSMIC||fibromyxoid sarcoma
Microglia	TAPBP	2.091762718	2.53E-10	Chaperone	BrainSpLMD|6892;Eurexp|euxassay_009813|dorsal root ganglion, facial VII, glossopharyngeal IX, thymus primordium, trigeminal V, ventral grey horn	OMIM|601962;HPO|6892|Autosomal recessive inheritance, Bronchiectasis, Bronchiolitis, Chronic otitis media, Chronic sinusitis, Ectopia lentis, Emphysema, Nasal polyposis, Recurrent bronchitis, Skin ulcer
Microglia	ARHGAP12	1.559162567	2.64E-10	GTPase activating protein	BrainSpLMD|94134;Eurexp|euxassay_008610|axial skeleton, basioccipital bone, basisphenoid bone, bladder, brain, dorsal root ganglion, facial VII, femur, glossopharyngeal IX, midgut, neural retina, olfactory, pelvic girdle, spinal cord, stomach, trigeminal V, vestibulocochlear VIII	OMIM|610577
Microglia	HSPE1	1.381251459	2.72E-10	Heat shock protein	BrainSpLMD|3336	OMIM|600141
Microglia	PCF11	0.971320077	3.57E-10	RNA binding protein	BrainSpLMD|51585	OMIM|608876
Microglia	SCAMP2	1.898944713	3.59E-10	Membrane transport protein	BrainSpLMD|10066	OMIM|606912
Microglia	FTH1P11	0.507355508	3.97E-10			
Microglia	NQO2	1.82948631	4.11E-10	Enzyme: Oxidoreductase	BrainSpLMD|4835;Eurexp|euxassay_018917|adenohypophysis	OMIM|160998
Microglia	HMGA1	1.819077959	4.46E-10	DNA binding protein	BrainSpLMD|3159;Eurexp|euxassay_003457|bladder, cortex, epidermis, glomeruli, head mesenchyme, hindgut, incisor, left lung, lobe, marginal layer, midgut, neural retina, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, pituitary, rectum, respiratory, right lung, spleen primordium, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|15136	OMIM|600701;COSMIC||microfollicular thyroid adenoma, various benign mesenchymal tumours
Microglia	TPM3	1.631773055	4.88E-10	Cytoskeletal associated protein;Structural protein	BrainSpLMD|7170	OMIM|191030;COSMIC||papillary thyroid, ALCL, NSCLC, Spitzoid tumour;HPO|7170|Autosomal dominant inheritance, Autosomal recessive inheritance, Bulbar palsy, Centrally nucleated skeletal muscle fibers, Congenital onset, Decreased fetal movement, Dilated cardiomyopathy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Dysphagia, EMG: myopathic abnormalities, Facial diplegia, Facial palsy, Failure to thrive, Feeding difficulties, Flexion contracture, Generalized muscle weakness, Heterogeneous, High palate, Juvenile onset, Long face, Lumbar hyperlordosis, Motor delay, Muscular hypotonia, Myopathy, Narrow face, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Pectus excavatum, Pes cavus, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Reduced tendon reflexes, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scoliosis, Shoulder girdle muscle atrophy, Type 1 fibers relatively smaller than type 2 fibers, Variable expressivity, Weak cry
Microglia	RAC1	0.89875275	5.34E-10	GTPase	BrainSpLMD|5879;BrainSpMouseDev|19116	OMIM|602048;COSMIC||melanoma, carcinoma
Microglia	RP11.3P17.3	0.514533846	5.68E-10			
Microglia	SEC14L1	1.97827322	5.80E-10	Transport/cargo protein	BrainSpLMD|6397;Eurexp|euxassay_013817|lung, marginal layer	OMIM|601504
Microglia	RRP12	2.30778379	7.40E-10	Unclassified	BrainSpLMD|23223	OMIM|617723
Microglia	OPA3	2.641635583	8.15E-10	Unclassified	BrainSpLMD|80207	OMIM|606580;HPO|80207|3-Methylglutaconic aciduria, Abnormality of extrapyramidal motor function, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Cataract, Central scotoma, Cerebellar atrophy, Chorea, Choreoathetosis, Cognitive impairment, Dysarthria, Hyperreflexia, Intellectual disability, Muscle cramps, Nystagmus, Optic atrophy, Pain, Paresthesia, Posterior cortical cataract, Postural tremor, Reduced visual acuity, Spastic paraparesis, Spasticity, Tremor, Unsteady gait, Visual impairment
Microglia	MAML2	1.575577218	8.95E-10	Transcription regulatory protein	BrainSpLMD|84441	OMIM|607537;COSMIC||salivary gland mucoepidermoid
Microglia	HSP90AA4P	0.581650157	9.21E-10			
Microglia	SRP9P1	0.291444665	1.07E-09			
Microglia	JDP2	1.975779122	1.15E-09	Transcription factor	BrainSpLMD|122953;Eurexp|euxassay_016441|axial skeleton, dorsal root ganglion, facial VII, femur, glossopharyngeal IX, humerus, mandible, mantle layer, maxilla, neural retina, phalanx, scapula, trigeminal V, vagus X, ventral grey horn;BrainSpMouseDev|57385	OMIM|608657
Microglia	LEPREL1	2.12517365	1.26E-09			
Microglia	SHC1	0.920498612	1.27E-09	Adapter molecule	BrainSpLMD|6464;BrainSpMouseDev|20179	OMIM|600560
Microglia	3-Mar	1.682404389	1.31E-09			
Microglia	MMP2	1.637807203	1.35E-09	Metallo protease	BrainSpLMD|4313	OMIM|120360;HPO|4313|Abnormality of the ear, Abnormality of the thorax, Ankle contracture, Ankylosis of feet small joints, Antinuclear antibody positivity, Arthralgia, Autosomal recessive inheritance, Brachycephaly, Broad metatarsal, Bulbous nose, C1-C2 subluxation, Camptodactyly of toe, Carpal osteolysis, Coarse facial features, Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Distal tapering of metatarsals, Frontal bossing, Gait disturbance, Gingival overgrowth, Hip contracture, Hirsutism, Hypermelanotic macule, Hypertelorism, Hypoplasia of the maxilla, Infantile onset, Interphalangeal joint contracture of finger, Interphalangeal joint erosions, Juvenile onset, Kyphoscoliosis, Metacarpal osteolysis, Metaphyseal widening, Metatarsal osteolysis, Micrognathia, Narrow nasal bridge, Osteolysis involving tarsal bones, Osteopenia, Osteoporosis, Peripheral opacification of the cornea, Pes cavus, Pes planus, Proptosis, Protrusio acetabuli, Sclerotic cranial sutures, Short stature, Split hand, Subcutaneous nodule, Thickened skin, Thin metacarpal cortices, Thin metatarsal cortices, Vertebral compression fractures, Widened metacarpal shaft, Wrist flexion contracture
Microglia	NPC1	1.643197646	1.37E-09	Cell surface receptor	BrainSpLMD|4864	OMIM|607623;HPO|4864|Abnormal cholesterol homeostasis, Ataxia, Autosomal recessive inheritance, Bone-marrow foam cells, Cataplexy, Dementia, Dysarthria, Dysphagia, Dystonia, Fatal liver failure in infancy, Fetal ascites, Foam cells in visceral organs and CNS, Generalized hypotonia, Global developmental delay, Hepatomegaly, Heterogeneous, Intellectual disability, Loss of speech, Low cholesterol esterification rates, Neurofibrillary tangles, Neuronal loss in central nervous system, Onset, Phenotypic variability, Prolonged neonatal jaundice, Psychosis, Sea-blue histiocytosis, Seizures, Spasticity, Splenomegaly, Vertical supranuclear gaze palsy
Microglia	CD99	1.433400908	1.71E-09	Unclassified		OMIM|450000
Microglia	PI4K2A	2.417844629	2.18E-09	Lipid Kinase	BrainSpLMD|55361	OMIM|609763
Microglia	SCARB1	1.680742439	2.19E-09	Cell surface receptor	BrainSpLMD|949;Eurexp|euxassay_006305|adenohypophysis, adrenal gland, incisor, molar, olfactory, submandibular gland primordium, testis, thymus primordium;BrainSpMouseDev|20540	OMIM|601040
Microglia	RP4.604A21.1	0.33995272	2.21E-09			
Microglia	SOAT1	1.277475565	2.24E-09	Enzyme: Acyltransferase	BrainSpLMD|6646;Eurexp|euxassay_004596|adrenal gland, calyces, loop, midgut, stomach, turbinate bones	OMIM|102642
Microglia	RIPK2	2.508148915	2.33E-09	Serine/threonine kinase	BrainSpLMD|8767	OMIM|603455
Microglia	RP11.631M6.2	1.294429165	2.45E-09			
Microglia	CFLAR	1.217115239	2.55E-09	Adapter molecule	BrainSpLMD|8837;Eurexp|euxassay_005593|axial skeleton, cervical, cervico-thoracic, choroid plexus, dorsal root ganglion, facial VII, foregut-midgut junction, hindgut, lateral recess, limb, mantle layer, marginal layer, midgut, stomach, thoracic, trigeminal V, vagus X, ventricular layer;BrainSpMouseDev|12418	OMIM|603599
Microglia	ARHGEF6	2.125006295	2.69E-09	Guanine nucleotide exchange factor	BrainSpLMD|9459	OMIM|300267;HPO|9459|Intellectual disability, X-linked recessive inheritance
Microglia	TCOF1	2.757017324	2.70E-09	Transcription regulatory protein	BrainSpLMD|6949;Eurexp|euxassay_012028|Meckel's cartilage, axial skeleton, humerus, radius, rib, scapula, ulna	OMIM|606847;HPO|6949|Abnormality of bone mineral density, Abnormality of the pinna, Absent eyelashes, Autosomal dominant inheritance, Cleft eyelid, Conductive hearing impairment, Downslanted palpebral fissures, Frontal bossing, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Iris coloboma, Low anterior hairline, Malar flattening, Micrognathia, Microtia, Midface retrusion, Narrow internal auditory canal, Open bite, Reduced number of teeth, Retrognathia, Short face, Skeletal dysplasia, Sparse lower eyelashes, Strabismus, Visual impairment, Wide nasal bridge
Microglia	MYL12A	1.403186467	2.72E-09	Calcium binding protein	BrainSpLMD|10627	
Microglia	HSP90AB3P	0.583250766	2.73E-09			
Microglia	MYADM	1.783459004	2.77E-09	Unclassified	BrainSpLMD|91663;Eurexp|euxassay_004288|femur, footplate, forelimb, hindlimb, mesenchyme, tail	OMIM|609959
Microglia	PLEKHM2	1.885151366	3.08E-09	Unclassified	BrainSpLMD|23207	OMIM|609613
Microglia	GLRX	1.879614944	3.26E-09	Enzyme: Oxidoreductase	BrainSpLMD|2745	OMIM|600443
Microglia	SSH1	1.834183114	3.31E-09	Dual specificity phosphatase	BrainSpLMD|54434	OMIM|606778
Microglia	DNAJB11	1.961773625	3.39E-09	Chaperone	BrainSpLMD|51726	OMIM|611341
Microglia	TNS3	1.428502585	3.77E-09	Integral membrane protein;Cell surface receptor	BrainSpLMD|64759;Eurexp|euxassay_014013|axial skeleton, ductus deferens, exoccipital bone, mandible, maxilla, mesenchyme, nasal septum, orbito-sphenoid, spleen primordium, trachea, turbinate, vibrissa	OMIM|606825
Microglia	GIGYF1	0.391596679	4.42E-09	Unclassified	BrainSpLMD|64599;Eurexp|euxassay_007703|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|612064
Microglia	RPL13AP25	0.339389424	4.44E-09			
Microglia	MT.TL1	0.843828677	5.00E-09			
Microglia	RP11.761N21.2	0.5757353	5.44E-09			
Microglia	JUND	0.858652015	5.56E-09	Transcription factor	BrainSpLMD|3727;BrainSpMouseDev|16251	OMIM|165162
Microglia	HIST1H3D	1.952632467	5.67E-09	DNA binding protein	BrainSpLMD|8351	OMIM|602811
Microglia	WDR74	2.231275773	5.74E-09	Unclassified	BrainSpLMD|54663	
Microglia	ABHD12	1.932232169	5.81E-09	Integral membrane protein	BrainSpLMD|26090	OMIM|613599;HPO|26090|Achilles tendon contracture, Autosomal recessive inheritance, Babinski sign, Cerebellar atrophy, Decreased nerve conduction velocity, Distal amyotrophy, Distal sensory impairment, Dysarthria, Dysmetria, Hyperreflexia, Hyporeflexia, Intention tremor, Nystagmus, Onset, Optic atrophy, Pes cavus, Phenotypic variability, Polyneuropathy, Rod-cone dystrophy, Sensorimotor neuropathy, Sensorineural hearing impairment, Slow progression, Spasticity, Subcapsular cataract
Microglia	NR3C1	1.833689683	5.98E-09	Nuclear receptor;Transcription factor	BrainSpLMD|2908;BrainSpMouseDev|14591	OMIM|138040;HPO|2908|Abnormal serum testosterone level, Acne, Adrenal hyperplasia, Autosomal dominant inheritance, Decreased circulating aldosterone level, Fatigue, Hirsutism, Hypertension, Hypoglycemia, Hypokalemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased urinary cortisol level, Metabolic alkalosis, Oligomenorrhea
Microglia	GNA13	1.509475845	6.24E-09	G protein	BrainSpLMD|10672	OMIM|604406
Microglia	EEPD1	1.486818045	6.44E-09	DNA binding protein	BrainSpLMD|80820;Eurexp|euxassay_002552|dorsal root ganglion, facial VII, orbito-sphenoid, trigeminal V	OMIM|617192
Microglia	RPL17P50	2.019419251	6.72E-09			
Microglia	ARPC3	1.209337159	6.85E-09	Cytoskeletal associated protein		OMIM|604225
Microglia	MYO1E	1.643934801	7.57E-09	Motor protein	BrainSpLMD|4643	OMIM|601479;HPO|4643|Autosomal recessive inheritance, Chronic kidney disease, Edema, Focal segmental glomerulosclerosis, Hematuria, Hypoalbuminemia, Nephrotic syndrome, Progressive, Proteinuria, Tubular atrophy
Microglia	PHF1	1.079417136	8.08E-09	Transcription factor	BrainSpLMD|5252	OMIM|602881
Microglia	PFKFB2	1.684320828	9.57E-09	Enzyme: Phosphotransferase	BrainSpLMD|5208	OMIM|171835
Microglia	RP1.257A7.4	2.245965112	9.77E-09			
Microglia	HSD17B11	1.655558459	9.99E-09	Enzyme: Dehydrogenase	BrainSpLMD|51170;Eurexp|euxassay_012521|epithelium, olfactory	OMIM|612831
Microglia	RP11.175B9.3	0.78528625	1.09E-08			
Microglia	SNX29	1.089377183	1.14E-08	Unclassified		COSMIC||PMBL, Hodgkin lymphoma
Microglia	ATP1B1	1.183153661	1.29E-08	ATPase	BrainSpLMD|481;Eurexp|euxassay_014734|adenohypophysis, alar columns, atrium, autonomic, basal columns, basal plate, body, calyces, cardiac muscle, cerebellum, cerebral cortex, choroid plexus, collecting ducts, corpus striatum, cortex, cortical region, diencephalic part of interventricular foramen, dorsal root ganglion, duodenum, endocardial cushion tissue, endocardial tissue, epithalamus, epithelium, excretory component, extraembryonic component, facial VII, forebrain, fundus, ganglion, gastro-oesophageal junction, glossopharyngeal IX, head, heart, hindbrain, hindgut, hypogastric plexus, hypothalamus, infundibulum, interventricular groove, intraventricular portion, laryngeal, lateral wall, lower, lumen, lung, mantle layer, marginal layer, median eminence, medulla oblongata, medullary tubules, metanephros, midbrain, midgut, nasal septum, neurohypophysis, olfactory, pancreas, pars anterior, pars intermedia, pars nervosa, pars tuberalis, pericardium, physiological umbilical hernia, pituitary, pons, pyloric antrum, pyloric region, respiratory, respiratory system, respiratory tract, rest of alar plate, rostral part, stomach, sulcus limitans, sympathetic, tail, tegmentum, telencephalon, testis, thalamus, thoracic, trigeminal V, turbinate bones, upper, vagus X, ventricular layer, vestibulocochlear VIII, visceral organ	OMIM|182330
Microglia	FTH1P5	0.561370903	1.49E-08			
Microglia	COQ10B	1.381149705	1.64E-08	Unclassified	BrainSpLMD|80219	
Microglia	DNM2	1.534833708	1.70E-08	GTPase	BrainSpLMD|1785	OMIM|602378;COSMIC||T-ALL, Charcot-Marie-Tooth disease, centronuclear myopathy, lethal congenital contracture syndrome 5;HPO|1785|Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Axonal degeneration, Centrally nucleated skeletal muscle fibers, Congenital contracture, Congenital onset, Death in infancy, Decreased fetal movement, Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Easy fatigability, Elevated serum creatine phosphokinase, External ophthalmoplegia, Facial palsy, Flexion contracture, Generalized hypotonia, Heterogeneous, Hyporeflexia, Juvenile onset, Motor delay, Onion bulb formation, Pes cavus, Polyhydramnios, Proximal muscle weakness, Ptosis, Respiratory insufficiency, Retinal hemorrhage, Segmental peripheral demyelination/remyelination, Sleepy facial expression, Slow progression, Small for gestational age, Thin ribs
Microglia	SLC3A2	1.037820036	1.75E-08	Membrane transport protein	BrainSpLMD|6520;Eurexp|euxassay_007752|incisor, liver, mantle layer, meninges, midgut, molar, submandibular gland primordium, thymus primordium, vibrissa	OMIM|158070
Microglia	TBC1D12	1.625786778	1.76E-08	GTPase activating protein		
Microglia	MTHFR	2.170810135	1.79E-08	Enzyme: Oxidoreductase	BrainSpLMD|4524	SFARI||Autism, 4 - Minimal evidence;OMIM|607093;HPO|4524|Anencephaly, Autosomal recessive inheritance, Behavioral abnormality, Gait disturbance, Global developmental delay, Homocystinuria, Hyperhomocystinemia, Incoordination, Microcephaly, Muscle weakness, Paresthesia, Primary adrenal insufficiency, Seizures, Stroke
Microglia	PPP1R10	1.108291232	1.83E-08	Serine/threonine phosphatase	BrainSpLMD|5514	OMIM|603771
Microglia	CD164	1.125539368	2.10E-08	Adhesion molecule	Eurexp|euxassay_019262|epithelium, incisor, lung, molar, nucleus pulposus, olfactory, orbito-sphenoid, pancreas, pituitary, skeletal muscle, thymus primordium, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|32917	OMIM|603356;HPO|8763|Autosomal dominant inheritance, Sensorineural hearing impairment, Variable expressivity
Microglia	CAP1	1.192272344	2.14E-08	Unclassified	BrainSpLMD|10487	
Microglia	FAM49B	0.976591856	2.15E-08	Unclassified	BrainSpLMD|51571	
Microglia	LPIN2	1.334126493	2.41E-08	Unclassified	BrainSpLMD|9663	OMIM|605519;HPO|9663|Abnormality of bone marrow cell morphology, Acne, Arthralgia, Autosomal recessive inheritance, Bone pain, Cachexia, Chronic recurrent multifocal osteomyelitis, Congenital hypoplastic anemia, Edema, Failure to thrive, Fever, Flexion contracture, Growth delay, Headache, Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Inflammatory abnormality of the skin, Leukocytosis, Metaphyseal irregularity, Myalgia, Osteomyelitis, Papule, Pustule, Splenomegaly, Synovitis
Microglia	SRGAP2	1.06394679	2.49E-08	GTPase activating protein	Eurexp|euxassay_013988|dorsal grey horn, mantle layer, ventricle, ventricular layer	OMIM|606524
Microglia	ITSN2	1.436475908	2.60E-08	Adapter molecule	BrainSpLMD|50618	OMIM|604464
Microglia	RP11.543P15.1	0.389281704	2.71E-08			
Microglia	RGS16	2.453303725	2.93E-08	GTPase activating protein	BrainSpLMD|6004;Eurexp|euxassay_006229|diaphragm, dorsal grey horn, lip, mantle layer, marginal layer, mesenchyme, neural retina, skeletal muscle, ventricular layer, vertebral axis muscle system	OMIM|602514
Microglia	MT.ND6	0.824176093	3.27E-08			
Microglia	SRGAP2C	1.049916704	3.39E-08			OMIM|614704
Microglia	WDR61	1.65542688	3.48E-08	Unclassified	BrainSpLMD|80349	OMIM|609540
Microglia	GSTM4	2.268674395	3.60E-08	Enzyme: Glutathione transferase	BrainSpLMD|2948;Eurexp|euxassay_018671|olfactory, testis	OMIM|138333
Microglia	TNFRSF1A	1.201084089	3.93E-08	Cell surface receptor	BrainSpLMD|7132	OMIM|191190;HPO|7132|Abdominal pain, Amyloidosis, Arthralgia, Arthritis, Autosomal dominant inheritance, Conjunctival hyperemia, Constipation, Diarrhea, Edema, Elevated C-reactive protein level, Elevated erythrocyte sedimentation rate, Episodic fever, Erysipelas, Erythema, Hepatic amyloidosis, Intestinal obstruction, Leukocytosis, Lymphadenopathy, Muscle stiffness, Myalgia, Orchitis, Pericarditis, Periorbital edema, Pleuritis, Skin rash, Splenomegaly, Vomiting
Microglia	GABARAPL1	1.529084403	4.28E-08	Unclassified	BrainSpLMD|23710;Eurexp|euxassay_007032|axial skeleton, calyces, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mesentery, neural retina, olfactory, pelvis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607420
Microglia	MIR29B1	2.047386085	4.37E-08			OMIM|610783
Microglia	M6PR	1.647341343	4.42E-08	Integral membrane protein	BrainSpLMD|4074	OMIM|154540
Microglia	AL353644.10	1.012352084	4.51E-08			
Microglia	SPECC1	1.017436383	4.64E-08	Unclassified	BrainSpLMD|92521;Eurexp|euxassay_013924|aorta, liver, molar, ventricular layer	OMIM|608793;COSMIC||JMML
Microglia	TXNIP	1.402361578	4.77E-08	Cell cycle control protein	BrainSpLMD|10628;Eurexp|euxassay_006657|meninges	OMIM|606599
Microglia	ZSWIM4	0.768834855	4.82E-08	Unclassified		
Microglia	RNU6.118P	1.872230052	4.91E-08			
Microglia	LPL	1.200730882	5.00E-08	Enzyme: Lipase	BrainSpLMD|4023;Eurexp|euxassay_004410|anterior, atrium, choroid plexus, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, liver, mantle layer, marginal layer, mesenchyme, olfactory, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, ventricle;BrainSpMouseDev|16726	SFARI||Autism, No category;OMIM|609708;HPO|4023|Autosomal dominant inheritance, Autosomal recessive inheritance, Episodic abdominal pain, Eruptive xanthomas, Hepatosplenomegaly, Hypercholesterolemia, Increased circulating chylomicron levels, Increased circulating low-density lipoprotein levels, Increased circulating very-low-density lipoprotein levels, Jaundice, Lactescent serum, Lipemia retinalis, Myocardial infarction, Nausea, Pancreatitis, Splenomegaly, Vomiting
Microglia	PARP14	1.34947402	5.19E-08	Unclassified	BrainSpLMD|54625	OMIM|610028
Microglia	FAM53C	1.554362593	6.30E-08	Unclassified	BrainSpLMD|51307	OMIM|609372
Microglia	ATP6V0B	1.248189664	6.53E-08	ATPase	BrainSpLMD|533;Eurexp|euxassay_004026|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|603717
Microglia	SALL1	1.726675177	6.89E-08	Transcription factor	BrainSpLMD|6299;Eurexp|euxassay_000198|basal columns, corpus striatum, epithelium, floor plate, floorplate, glomeruli, handplate, head mesenchyme, intermediate grey horn, isthmus, lateral wall, mantle layer, marginal layer, medulla oblongata, mesenchyme, olfactory, pars tuberalis, penis, skin, telencephalon, thyroid, ventral grey horn, ventricular layer;BrainSpMouseDev|37230	OMIM|602218;HPO|6299|2-3 toe syndactyly, 3-4 finger syndactyly, 3-4 toe syndactyly, Anal atresia, Anal stenosis, Anteriorly placed anus, Aplasia/Hypoplasia of the 3rd toe, Autosomal dominant inheritance, Bifid scrotum, Bifid uterus, Broad thumb, Chorioretinal coloboma, Clinodactyly of the 5th finger, Constipation, Cryptorchidism, Duodenal atresia, External ear malformation, Gastroesophageal reflux, Hearing impairment, Hypospadias, Hypothyroidism, Intellectual disability, Macrotia, Metatarsal synostosis, Microcephaly, Microtia, Overfolded helix, Overfolding of the superior helices, Partial duplication of thumb phalanx, Pes planus, Preauricular skin tag, Preaxial hand polydactyly, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Rectovaginal fistula, Renal insufficiency, Satyr ear, Short metatarsal, Stahl ear, Subcutaneous nodule, Tetralogy of Fallot, Toe clinodactyly, Triphalangeal thumb, Umbilical hernia, Urethral valve, Ventricular septal defect
Microglia	ABCA1	1.252405695	7.06E-08	Transport/cargo protein	BrainSpLMD|19;Eurexp|euxassay_009354|brain, spinal cord, ventricular layer	OMIM|600046;HPO|19|Abdominal pain, Abnormality of the liver, Accelerated atherosclerosis, Anemia, Autosomal dominant inheritance, Autosomal recessive inheritance, Blurred vision, Chronic noninfectious lymphadenopathy, Corneal opacity, Coronary artery stenosis, Decreased circulating high-density lipoprotein levels, Distal amyotrophy, Distal muscle weakness, Dry skin, EMG abnormality, Ectropion, Facial diplegia, Hemiplegia/hemiparesis, Hepatomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Hyporeflexia, Impaired pain sensation, Impaired temperature sensation, Left ventricular hypertrophy, Lymphadenopathy, Myocardial infarction, Nail dysplasia, Nail dystrophy, Opacification of the corneal stroma, Orange discoloured tonsils, Peripheral axonal neuropathy, Peripheral demyelination, Progressive peripheral neuropathy, Splenomegaly, Visual impairment, Xanthomatosis
Microglia	ATG7	0.872485524	7.55E-08	Unclassified	BrainSpLMD|10533	SFARI||Autism, 5 - Hypothesized but untested;OMIM|608760
Microglia	C6orf48	1.090551664	7.73E-08	Unclassified	BrainSpLMD|50854	OMIM|605447
Microglia	EML4	0.948256309	8.53E-08	Structural protein	BrainSpLMD|27436	OMIM|607442;COSMIC||NSCLC
Microglia	YBX3	2.062370843	8.60E-08	DNA binding protein	BrainSpLMD|8531	OMIM|603437
Microglia	PLD3	1.310871793	8.84E-08	Enzyme: Phospholipase	BrainSpLMD|23646	OMIM|615698
Microglia	MSN	1.250867692	9.72E-08	Cytoskeletal protein	BrainSpLMD|4478;Eurexp|euxassay_009365|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, organ system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	SFARI||Autism, 5 - Hypothesized but untested;OMIM|309845;COSMIC||ALCL;HPO|4478|Decreased antibody level in blood, Eczema, Lymphopenia, Recurrent respiratory infections, Recurrent urinary tract infections, X-linked recessive inheritance
Microglia	CNDP2	1.363779773	9.80E-08	Metallo protease	BrainSpLMD|55748	OMIM|169800
Microglia	WDR26	1.319159497	1.00E-07	Unclassified	BrainSpLMD|80232	SFARI||Autism, No category;OMIM|617424
Microglia	LINC00963	2.137344355	1.04E-07			
Microglia	TRA2B	1.49307593	1.07E-07	RNA binding protein	BrainSpLMD|6434	OMIM|602719
Microglia	MTO1	1.422376525	1.13E-07	Unclassified	BrainSpLMD|25821	OMIM|614667;HPO|25821|Arrhythmia, Autosomal recessive inheritance, Cognitive impairment, Congenital onset, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hypertrophic cardiomyopathy, Hypoglycemia, Increased serum lactate, Lactic acidosis, Metabolic acidosis, Poor speech, Small for gestational age
Microglia	SPRY1	2.35836732	1.16E-07	Unclassified	BrainSpLMD|10252	OMIM|602465
Microglia	GYS1	1.478386298	1.21E-07	Enzyme: Ligase	BrainSpLMD|2997;Eurexp|euxassay_003582|mantle layer, vertebral axis muscle system	OMIM|138570;HPO|2997|Autosomal recessive inheritance, Cardiomyopathy, Decreased muscle glycogen content, Exercise intolerance, Generalized tonic-clonic seizures, Left ventricular hypertrophy
Microglia	LAMP2	1.175752957	1.34E-07	Adhesion molecule	BrainSpLMD|3920	OMIM|309060;HPO|3920|Arrhythmia, Cardiomegaly, Cardiorespiratory arrest, Cognitive impairment, Dilated cardiomyopathy, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Exercise intolerance, Exercise-induced muscle cramps, Gait disturbance, Generalized amyotrophy, Global developmental delay, Hypertrophic cardiomyopathy, Hypokinesia, Intellectual disability, Muscle flaccidity, Myocardial fibrosis, Myocardial necrosis, Pes cavus, Phenotypic variability, Proximal muscle weakness, Visual impairment, Wolff-Parkinson-White syndrome, X-linked dominant inheritance
Microglia	BMP2K	1.807708594	1.40E-07	Serine/threonine kinase	BrainSpLMD|55589	OMIM|617648
Microglia	MT.CO2	0.575353444	1.46E-07			
Microglia	IRF2BPL	0.527432124	1.47E-07	Unclassified	BrainSpLMD|64207	SFARI||Autism, 2 - Strong candidate;OMIM|611720
Microglia	RAPGEF1	1.491220666	1.48E-07	Guanine nucleotide exchange factor	BrainSpLMD|2889;BrainSpMouseDev|71908	OMIM|600303
Microglia	CHKA	1.348094669	1.48E-07	Lipid Kinase	BrainSpLMD|1119	OMIM|118491
Microglia	ST3GAL1	0.882644355	1.50E-07	Enzyme: Sialyltransferase	BrainSpLMD|6482;Eurexp|euxassay_010981|mandible, mantle layer, sternum, vibrissa	OMIM|607187
Microglia	STK17B	1.394688278	1.55E-07	Serine/threonine kinase	BrainSpLMD|9262	OMIM|604727
Microglia	MT.TN	0.935612917	1.57E-07			
Microglia	BAX	1.764753682	1.59E-07	Adapter molecule	BrainSpLMD|581	OMIM|600040
Microglia	NEK6	2.48067142	1.60E-07	Serine/threonine kinase	BrainSpLMD|10783	OMIM|604884
Microglia	KIAA0247	1.264816463	1.62E-07			
Microglia	MESDC1	2.088716879	1.62E-07			
Microglia	COX6A1P2	0.674522587	1.68E-07			
Microglia	STK4	1.756596218	1.70E-07	Serine/threonine kinase	BrainSpLMD|6789	OMIM|604965;HPO|6789|Atrial septal defect, Autosomal recessive inheritance, Immunodeficiency, Lymphopenia, Neutropenia, Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Verrucae
Microglia	FKBP15	1.893301811	1.77E-07	Enzyme: Isomerase	Eurexp|euxassay_010344|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|617398
Microglia	SH3BGRL3	0.93442559	1.87E-07	Unclassified	BrainSpLMD|83442;Eurexp|euxassay_003517|basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, thymus primordium, trigeminal V, vagus X, ventral grey horn	OMIM|615679
Microglia	CYLD	1.548440591	1.88E-07	Ubiquitin proteasome system protein	BrainSpLMD|1540;Eurexp|euxassay_001691|bladder, epidermis, foregut-midgut junction, hindgut, lung, midgut, naris, oesophagus, olfactory, oral epithelium, pituitary, rectum, stomach, urethra, vibrissa	OMIM|605018;COSMIC||cylindroma, cylindroma;HPO|1540|Adult onset, Autosomal dominant inheritance, Milia, Neoplasm, Neoplasm of the skin, Papule, Subcutaneous nodule, Telangiectasia of the skin
Microglia	TCEB1	1.389546633	1.89E-07			
Microglia	MT.RNR2	0.657255775	2.00E-07			
Microglia	RRBP1	1.853014465	2.01E-07	Integral membrane protein	BrainSpLMD|6238	OMIM|601418
Microglia	PPP1R18	0.385512712	2.02E-07	Unclassified	BrainSpLMD|170954;Eurexp|euxassay_006379|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610990
Microglia	RP11.138A9.2	1.964177406	2.09E-07			
Microglia	ATP6V0A1	0.973161358	2.13E-07	Ion channel	BrainSpLMD|535	OMIM|192130
Microglia	RPS9	1.166962082	2.15E-07	Ribosomal subunit		OMIM|603631
Microglia	SPRY2	1.567281776	2.17E-07	Unclassified	BrainSpLMD|10253	OMIM|602466
Microglia	ZSCAN31	1.494043884	2.23E-07	DNA binding protein;Transcription factor	BrainSpLMD|64288	OMIM|610794
Microglia	ATP6V1F	1.139809944	2.28E-07	ATPase	BrainSpLMD|9296;Eurexp|euxassay_005209|dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory lobe, spinal cord, trigeminal V, vagus X	OMIM|607160
Microglia	NCOR2	1.727817164	2.45E-07	Transcription regulatory protein	BrainSpLMD|9612;Eurexp|euxassay_009400|incisor, molar, trigeminal V, ventricular layer;BrainSpMouseDev|20364	OMIM|600848;COSMIC||prostate
Microglia	IFNGR2	1.120202169	2.46E-07	Cell surface receptor	BrainSpLMD|3460;Eurexp|euxassay_009771|basal columns, dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vagus X	OMIM|147569;HPO|3460|Autosomal recessive inheritance, Immunodeficiency, Recurrent mycobacterial infections
Microglia	MTMR14	1.99749263	2.56E-07	Lipid phosphatase	BrainSpLMD|64419	OMIM|611089
Microglia	CD276	1.330231906	3.11E-07	Ligand	BrainSpLMD|80381	SFARI||Autism, 4 - Minimal evidence;OMIM|605715
Microglia	SRGAP2B	1.247788049	3.30E-07			OMIM|614703
Microglia	DDX3X	0.529205466	3.53E-07	RNA helicase	BrainSpLMD|1654	SFARI||Autism, 2 - Strong candidate;OMIM|300160;COSMIC||CLL, medulloblastoma, Mental retardation, X-linked 102;HPO|1654|Generalized hypotonia, Infantile onset, Intellectual disability, X-linked dominant inheritance, X-linked recessive inheritance
Microglia	RAB31	1.549084306	3.69E-07	GTPase	BrainSpLMD|11031;Eurexp|euxassay_003248|axial muscle, basal plate, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, submandibular gland primordium, thoracic, trigeminal V, vagus X, vibrissa	OMIM|605694
Microglia	RHOQ	1.174474937	4.02E-07	GTPase		OMIM|605857
Microglia	TCEAL3	1.248699934	4.04E-07	Unclassified	BrainSpLMD|85012;Eurexp|euxassay_014188|diaphragm, footplate, handplate, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, vertebral axis muscle system	
Microglia	P4HA1	1.851756648	4.70E-07	Enzyme: Hydroxylase	BrainSpLMD|5033;Eurexp|euxassay_000584|Meckel's cartilage, axial skeleton, chondrocranium, incisor, limb, molar, nasal capsule, pectoral girdle and thoracic body wall	OMIM|176710
Microglia	MT.TS1	0.587289394	5.57E-07			
Microglia	NAA20	1.242282507	6.57E-07	Enzyme: Acyltransferase	BrainSpLMD|51126;Eurexp|euxassay_006945|submandibular gland primordium, vibrissa	OMIM|610833
Microglia	NFE2L2	1.352036881	6.90E-07	Transcription factor	BrainSpLMD|4780;Eurexp|euxassay_018087|larynx, midgut, rectum, stomach, submandibular gland primordium, thyroid, trachea;BrainSpMouseDev|17791	OMIM|600492;COSMIC||NSCLC, HNSCC
Microglia	WSB1	0.678336145	7.18E-07	Unclassified	BrainSpLMD|26118;Eurexp|euxassay_005031|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610091
Microglia	ABHD3	1.478943129	7.49E-07	Unclassified	BrainSpLMD|171586;Eurexp|euxassay_005011|choroid plexus, lateral recess, mantle layer, olfactory, urethra	OMIM|612197
Microglia	SMAD3	1.554490678	7.59E-07	Transcription regulatory protein	BrainSpLMD|4088;Eurexp|euxassay_002759|dorsal grey horn, oesophagus, pharyngo-tympanic tube, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|16897	OMIM|603109;COSMIC||colorectal carcinoma, oral squamous cell carcinoma;HPO|4088|Abnormality of the iris, Abnormality of the sternum, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Arachnodactyly, Arterial tortuosity, Ascending aortic dissection, Atrial fibrillation, Autosomal dominant inheritance, Bruising susceptibility, Camptodactyly, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Dental malocclusion, Descending aortic dissection, Dural ectasia, Exertional dyspnea, High palate, Hip osteoarthritis, Hypertelorism, Hypertension, Inguinal hernia, Intervertebral disc degeneration, Joint laxity, Knee osteoarthritis, Left ventricular failure, Left ventricular hypertrophy, Mitral regurgitation, Mitral valve prolapse, Osteochondritis Dissecans, Paroxysmal dyspnea, Pes planus, Protrusio acetabuli, Scoliosis, Spondylolisthesis, Striae distensae, Umbilical hernia, Uterine prolapse
Microglia	SH3GL1	0.848118757	7.74E-07	Unclassified	BrainSpLMD|6455;Eurexp|euxassay_000588|chondrocranium	OMIM|601768;COSMIC||AL
Microglia	GGA1	1.646834201	7.75E-07	Transport/cargo protein;Unclassified	BrainSpLMD|26088	OMIM|606004
Microglia	RNF122	1.399603943	7.82E-07	Ubiquitin proteasome system protein	BrainSpLMD|79845	
Microglia	RP11.758P17.3	1.615448633	7.86E-07			
Microglia	EIF4A3	1.759514746	8.04E-07	Unclassified	BrainSpLMD|9775;Eurexp|euxassay_003305|submandibular gland primordium, testis, vibrissa	OMIM|608546;HPO|9775|Abnormality of the aryepiglottic fold, Abnormality of the voice, Agenesis of mandibular central incisor, Aplasia of the epiglottis, Autosomal recessive inheritance, Bifid uvula, Cleft lower alveolar ridge, Cleft mandible, Clinodactyly of the 5th finger, Feeding difficulties, Global developmental delay, High palate, Hypoplasia of the radius, Low-set ears, Microretrognathia, Narrow mouth, Pierre-Robin sequence, Prominent nose, Protruding ear, Proximal placement of thumb, Radial deviation of the hand, Short metacarpal, Short phalanx of finger, Short stature, Short thumb, Talipes equinovarus, Tibial deviation of toes
Microglia	MT.TP	0.820902101	8.17E-07			
Microglia	SERPINH1	1.904478501	8.42E-07	Heat shock protein	BrainSpLMD|871	OMIM|600943;HPO|871|Autosomal recessive inheritance, Blue sclerae, Broad ribs, Chronic lung disease, Dentinogenesis imperfecta, Generalized hypotonia, Generalized joint laxity, Genu valgum, High forehead, High pitched voice, Inguinal hernia, Joint laxity, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Narrow chest, Narrow forehead, Nephrolithiasis, Osteopenia, Platyspondyly, Prominent forehead, Pyloric stenosis, Relative macrocephaly, Scoliosis, Shallow orbits, Short stature, Thin ribs, Triangular face, Vertebral compression fractures
Microglia	GNG5	1.30412911	8.49E-07	G protein	BrainSpLMD|2787;Eurexp|euxassay_007798|embryo	OMIM|600874
Microglia	MTRNR2L12	0.639604323	8.86E-07			
Microglia	TMED5	1.100870513	1.02E-06	Unclassified	BrainSpLMD|50999	OMIM|616876
Microglia	RNF5	0.585691218	1.05E-06	Enzyme: Ligase		OMIM|602677
Microglia	DNAJB6	1.043659021	1.22E-06	Chaperone	BrainSpLMD|10049;Eurexp|euxassay_001462|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V	OMIM|611332;HPO|10049|Adult onset, Autosomal dominant inheritance, Difficulty climbing stairs, Dysphagia, Elevated serum creatine phosphokinase, Gowers sign, Muscle fiber splitting, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Shoulder girdle muscle weakness, Slow progression, Waddling gait
Microglia	CHCHD7	1.076517403	1.23E-06	Unclassified	BrainSpLMD|79145	OMIM|611238;COSMIC||salivary adenoma
Microglia	ATP2C1	0.922368299	1.28E-06	ATPase	BrainSpLMD|27032	OMIM|604384;HPO|27032|Acantholysis, Autosomal dominant inheritance, Erythema, Hyperkeratosis, Skin erosion, Skin vesicle
Microglia	TBK1	0.918212772	1.32E-06	Serine/threonine kinase	BrainSpLMD|29110	OMIM|604834;HPO|29110|Abnormal lower motor neuron morphology, Adult onset, Amyotrophic lateral sclerosis, Anxiety, Apathy, Autosomal dominant inheritance, Bulbar palsy, Cerebral cortical atrophy, Depressivity, Disinhibition, Dysarthria, Dysphagia, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontotemporal dementia, Generalized muscle weakness, Hyperreflexia, Hyporeflexia, Language impairment, Muscle cramps, Mutism, Neurodegeneration, Pain, Paralysis, Personality changes, Phenotypic variability, Progressive, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
Microglia	MT.TQ	0.722940467	1.46E-06			
Microglia	SNORD63	1.234232377	1.49E-06			
Microglia	KLHL18	1.77800202	1.57E-06	Cytoskeletal associated protein	BrainSpLMD|23276;Eurexp|euxassay_005777|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	
Microglia	PPP1R15B	1.018434126	1.58E-06	Regulatory/other subunit	BrainSpLMD|84919	OMIM|613257;HPO|84919|Abnormal vertebral morphology, Autosomal recessive inheritance, Brisk reflexes, Delayed puberty, Dysarthria, Fine hair, Gait ataxia, Hearing impairment, High pitched voice, Intellectual disability, severe, Intrauterine growth retardation, Kinetic tremor, Kyphoscoliosis, Microcephaly, Oligodontia, Pectus excavatum, Phenotypic variability, Recurrent hypoglycemia, Seizures, Short stature, Small for gestational age, Sparse hair, Spasticity
Microglia	ATP6V0E1	1.253671159	1.59E-06	ATPase	BrainSpLMD|8992;Eurexp|euxassay_002321|Meckel's cartilage, basisphenoid bone, orbito-sphenoid, turbinate	OMIM|603931
Microglia	CDC42SE1	1.162024906	1.59E-06	Unclassified	BrainSpLMD|56882	
Microglia	PHYH	1.483564208	1.60E-06	Enzyme: Hydroxylase	BrainSpLMD|5264;Eurexp|euxassay_004803|adenohypophysis, dorsal root ganglion, glossopharyngeal IX, left, left lung, loop, right, right lung, stomach, submandibular gland primordium, trigeminal V, vagus X, ventricle	OMIM|602026;HPO|5264|Abnormal pyramidal signs, Abnormality of epiphysis morphology, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Anosmia, Arrhythmia, Ataxia, Autosomal recessive inheritance, Cardiomegaly, Cardiomyopathy, Cataract, Congestive heart failure, Developmental regression, Dry skin, Elevated levels of phytanic acid, Hammertoe, Hemiplegia/hemiparesis, Hyporeflexia, Ichthyosis, Increased CSF protein, Intellectual disability, severe, Limb muscle weakness, Miosis, Multiple epiphyseal dysplasia, Muscular hypotonia, Nail dysplasia, Nyctalopia, Nystagmus, Peripheral neuropathy, Pes cavus, Ptosis, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Sensorimotor neuropathy, Sensorineural hearing impairment, Sensory impairment, Short fourth metatarsal, Short metacarpal, Skeletal dysplasia, Skeletal muscle atrophy, Splenomegaly, Visual impairment
Microglia	CTD.2287O16.1	0.329391126	1.63E-06			
Microglia	INTS6	1.435902011	1.64E-06	RNA binding protein	BrainSpLMD|26512	SFARI||Autism, 2 - Strong candidate;OMIM|604331
Microglia	CLN8	1.941377449	1.67E-06	Integral membrane protein	BrainSpLMD|2055	SFARI||Autism, 4 - Minimal evidence;OMIM|607837;HPO|2055|Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Clumsiness, Curvilinear intracellular accumulation of autofluorescent lipopigment storage material, Delayed speech and language development, Developmental regression, EEG abnormality, Focal seizures with impairment of consciousness or awareness, Generalized tonic-clonic seizures, Increased neuronal autofluorescent lipopigment, Intellectual disability, Irritability, Mental deterioration, Myoclonus, Progressive visual loss, Psychosis, Restlessness, Seizures, Slow progression
Microglia	ETV6	1.530408362	1.76E-06	Transcription factor	BrainSpLMD|2120;Eurexp|euxassay_012303|incisor, molar, olfactory, parotid, submandibular gland primordium, thymus primordium, thyroid;BrainSpMouseDev|13788	OMIM|600618;COSMIC||congenital fibrosarcoma, multiple different leukaemia and lymphoma tumour types including ALL, secretory breast, MDS;HPO|2120|Autosomal dominant inheritance, Bruising susceptibility, Epistaxis, Petechiae, Thrombocytopenia
Microglia	RAB7A	1.048761746	1.78E-06	GTPase	BrainSpLMD|7879	OMIM|602298;HPO|7879|Areflexia, Autoamputation of foot, Autosomal dominant inheritance, Axonal degeneration/regeneration, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Dystrophic toenail, Foot dorsiflexor weakness, Foot osteomyelitis, Hammertoe, Hyporeflexia, Peripheral axonal atrophy, Pes cavus, Pes planus, Steppage gait
Microglia	NOP10	0.9539105	1.79E-06	Ribonucleoprotein	BrainSpLMD|55505	OMIM|606471;HPO|55505|Abnormal blistering of the skin, Abnormality of coagulation, Abnormality of female internal genitalia, Abnormality of neutrophils, Abnormality of the fingernails, Abnormality of the pharynx, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic anemia, Aplastic/hypoplastic toenail, Autosomal recessive inheritance, Bone marrow hypocellularity, Carious teeth, Cellular immunodeficiency, Esophageal stenosis, Esophageal stricture, Global developmental delay, Hepatic fibrosis, Hyperhidrosis, Hypermelanotic macule, Hyperpigmentation of the skin, Hypodontia, Hypopigmented skin patches, Increased lacrimation, Intellectual disability, Intrauterine growth retardation, Malabsorption, Microcephaly, Microdontia, Nail dysplasia, Nail dystrophy, Nasolacrimal duct obstruction, Oral leukoplakia, Osteoporosis, Periodontitis, Phenotypic variability, Pterygium of nails, Pulmonary fibrosis, Recurrent fractures, Recurrent respiratory infections, Rough bone trabeculation, Short stature, Skin ulcer, Small nail, Sparse eyelashes, Sparse hair, Sparse scalp hair, Taurodontia, Telangiectasia of the skin, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis
Microglia	ACTR2	0.919817731	1.88E-06	Cytoskeletal protein	BrainSpLMD|10097	OMIM|604221
Microglia	ETV5	1.276356909	1.90E-06	Transcription regulatory protein	BrainSpLMD|2119;Eurexp|euxassay_000518|calyces, cranium, incisor, lung, otic capsule, submandibular gland primordium, testis, turbinate bones, ventricular layer;BrainSpMouseDev|68321	OMIM|601600;COSMIC||prostate
Microglia	MALT1	1.123229886	1.90E-06	Enzyme: Hydrolase	BrainSpLMD|10892;Eurexp|euxassay_013774|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|604860;COSMIC||MALT;HPO|10892|Anemia, Autosomal recessive inheritance, B-cell lymphoma, Constipation, Fatigue, Fever, Growth delay, Hyperhidrosis, Immunodeficiency, Nausea and vomiting, Pulmonary infiltrates, Recurrent bacterial infections, Recurrent viral infections, Weight loss
Microglia	EIF5A	0.80176821	1.93E-06	Translation Factor	BrainSpLMD|1984	OMIM|600187
Microglia	POLR2A	1.796461758	2.10E-06	RNA polymerase	BrainSpLMD|5430	OMIM|180660
Microglia	CKS2	1.1400498	2.15E-06	Cell cycle control protein	BrainSpLMD|1164	OMIM|116901
Microglia	MT.ND5	0.800361751	2.27E-06			
Microglia	KIAA1033	1.318226472	2.29E-06			
Microglia	HIST2H2BE	1.247841524	2.29E-06	DNA binding protein	BrainSpLMD|8349	OMIM|601831
Microglia	HIF1A	1.2943065	2.54E-06	Transcription factor	BrainSpLMD|3091;BrainSpMouseDev|15027	OMIM|603348;COSMIC||endometrioid carcinoma, glioblastoma, colorectal, renal, lung, pancreatic
Microglia	ATP6V1B2	1.124015769	2.59E-06	Transport/cargo protein	BrainSpLMD|526;Eurexp|euxassay_009121|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, naris, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606939;HPO|526|Anonychia, Autosomal dominant inheritance, Bifid nasal tip, Brachydactyly, Congenital onset, Deep philtrum, Gingival overgrowth, Hidrotic ectodermal dysplasia, Macroglossia, Nail dystrophy, Phenotypic variability, Prominent nasal septum, Sensorineural hearing impairment, Short neck, Short stature, Small nail, Synophrys, Thick eyebrow, Thick vermilion border, Toe syndactyly, Underdeveloped nasal alae, Wide nasal bridge
Microglia	RPLP1	0.983327136	2.60E-06	Ribosomal subunit		OMIM|180520
Microglia	MBNL1	1.180555237	2.69E-06	RNA binding protein	BrainSpLMD|4154	OMIM|606516
Microglia	CHD2	0.941544689	3.13E-06	DNA binding protein	BrainSpLMD|1106	SFARI||Autism, 2 - Strong candidate;OMIM|602119;COSMIC||melanoma, large intestine, CLL, monoclonal B lymphocytosis;HPO|1106|Abnormal brain FDG positron emission tomography, Abnormality of brainstem morphology, Absence seizures, Aggressive behavior, Ataxia, Atonic seizures, Atypical absence seizures, Autistic behavior, Autosomal dominant inheritance, Developmental regression, Dysarthria, EEG abnormality, EEG with abnormally slow frequencies, EEG with focal sharp slow waves, EEG with spike-wave complexes (>3.5 Hz), Encephalopathy, Epileptic encephalopathy, Falls, Febrile seizures, Generalized myoclonic seizures, Generalized tonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Hyperactivity, Intellectual disability, Mental deterioration, Myoclonic atonic seizures, Myoclonus, Personality disorder, Status epilepticus
Microglia	CMB9.22P13.1	2.378009202	3.14E-06			
Microglia	PSMA6	0.346024043	3.18E-06	Ubiquitin proteasome system protein		OMIM|602855
Microglia	MT.TY	0.708037208	3.43E-06			
Microglia	TMEM107	1.143440043	3.77E-06	Unclassified	BrainSpLMD|84314;Eurexp|euxassay_005337|choroid plexus, lateral recess, olfactory, pharynx, respiratory	OMIM|616183;HPO|84314|Aplasia/Hypoplasia of the iris, Cataract, Chorioretinal abnormality, Cleft palate, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Encephalocele, Full cheeks, Hypertelorism, Lobar holoprosencephaly, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Oligohydramnios, Optic atrophy, Postaxial foot polydactyly, Postaxial hand polydactyly, Sclerocornea, Sloping forehead, Talipes
Microglia	U2AF1	1.201365243	3.87E-06	Ribonucleoprotein	BrainSpLMD|7307;Eurexp|euxassay_011936|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, radius, rib, scapula, tibia, turbinate bones, ulna, vault of skull	OMIM|191317;COSMIC||CLL, MDS
Microglia	PHACTR1	1.325717993	3.93E-06	Enzyme regulator		OMIM|608723
Microglia	RP11.809C9.2	0.970286936	3.98E-06			
Microglia	HBEGF	2.092169666	4.35E-06	Growth factor	BrainSpLMD|1839;BrainSpMouseDev|14976	OMIM|126150
Microglia	ALAS1	1.335757835	4.50E-06	Enzyme: Synthase	BrainSpLMD|211;Eurexp|euxassay_009192|liver, medulla	OMIM|125290
Microglia	FTH1P23	0.316490064	4.67E-06			
Microglia	GSTM2	1.726243604	4.85E-06	Enzyme: Glutathione transferase	BrainSpLMD|2946;Eurexp|euxassay_010417|mantle layer, olfactory, renal/urinary system, testis	OMIM|138380
Microglia	MT.ATP8	0.640991642	4.89E-06			
Microglia	ABL2	0.859167118	5.06E-06	Tyrosine kinase	BrainSpLMD|27;Eurexp|euxassay_011309|embryo, femur, fibula, liver, primitive seminiferous tubules, tibia	OMIM|164690;COSMIC||AML
Microglia	FNDC3B	0.659119676	5.08E-06	Integral membrane protein	BrainSpLMD|64778	OMIM|611909
Microglia	FAM46A	2.200699861	5.13E-06	Unclassified	BrainSpLMD|55603;Eurexp|euxassay_008026|clavicle, fibula, mandible, maxilla, orbito-sphenoid, rib, tibia	OMIM|611357
Microglia	DENND4B	1.289940074	5.31E-06	Unclassified	BrainSpLMD|9909	
Microglia	GLA	1.423190153	5.64E-06	Enzyme: Galactosidase	BrainSpLMD|2717;Eurexp|euxassay_006959|adrenal gland	OMIM|300644;HPO|2717|Abdominal pain, Abnormality of the aortic valve, Abnormality of the hand, Abnormality of the renal tubule, Anemia, Angina pectoris, Angiokeratoma, Anorexia, Arrhythmia, Arthralgia, Arthritis, Atrioventricular block, Bundle branch block, Cataract, Coarse facial features, Cognitive impairment, Congestive heart failure, Conjunctival telangiectasia, Corneal dystrophy, Corneal opacity, Delayed puberty, Diarrhea, Dysautonomia, Emphysema, Fasciculations, Fatigue, Hematuria, Hyperkeratosis, Hyperlipidemia, Hypertension, Hypohidrosis, Juvenile onset, Left ventricular hypertrophy, Left ventricular septal hypertrophy, Lymphedema, Malabsorption, Mitral regurgitation, Muscle cramps, Myalgia, Myocardial infarction, Nausea, Nausea and vomiting, Nephropathy, Nephrotic syndrome, Obstructive lung disease, Optic atrophy, Paresthesia, Proteinuria, Renal insufficiency, Seizures, Short stature, Subcutaneous nodule, Telangiectasia of the skin, Tenesmus, Thick lower lip vermilion, Transient ischemic attack, Vomiting, X-linked recessive inheritance
Microglia	AGAP3	0.6784182	5.74E-06	Unclassified	BrainSpLMD|116988	OMIM|616813
Microglia	RP11.138A9.1	1.614985679	5.81E-06			
Microglia	TMSB4XP4	1.200535704	6.12E-06	-		
Microglia	MEF2D	1.534436769	6.61E-06	Transcription regulatory protein	BrainSpLMD|4209;BrainSpMouseDev|17030	OMIM|600663
Microglia	ITGAV	1.39770011	6.76E-06	Cell surface receptor	BrainSpLMD|3685;Eurexp|euxassay_009584|brain, calyces, incisor, mandible, maxilla, mesenchyme, midgut, molar, spinal cord, stomach, submandibular gland primordium, ventricular layer;BrainSpMouseDev|16183	OMIM|193210;COSMIC||large intestine carcinoma
Microglia	RAC1P2	0.65573953	7.00E-06			
Microglia	FAM96A	1.01045453	7.80E-06	Unclassified	BrainSpLMD|84191;Eurexp|euxassay_006563|liver	
Microglia	POU2F2	1.275936296	7.87E-06	Transcription factor	BrainSpLMD|5452;Eurexp|euxassay_019622|mantle layer;BrainSpMouseDev|18750	OMIM|164176
Microglia	SIRT1	0.907813469	7.88E-06	Enzyme: Deacetylase	BrainSpLMD|23411	OMIM|604479
Microglia	TMBIM6	0.646255864	7.95E-06	Integral membrane protein	BrainSpLMD|7009	OMIM|600748
Microglia	MT.CO3	0.644522863	7.96E-06			
Microglia	RNF13	0.972014797	9.02E-06	Ubiquitin proteasome system protein	BrainSpLMD|11342;Eurexp|euxassay_010064|ventricular layer	OMIM|609247
Microglia	MT.TC	0.797611247	9.20E-06			
Microglia	IL10RB	0.79328447	9.98E-06	Cytokine receptor	BrainSpLMD|3588	OMIM|123889;HPO|3588|Autosomal recessive inheritance, Enterocolitis, Perianal abscess, Rectal abscess, Rectovaginal fistula
Microglia	BRD2	0.679376154	1.05E-05	Transcription regulatory protein	BrainSpLMD|6046;Eurexp|euxassay_012809|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mandible, mantle layer, maxilla, orbito-sphenoid, submandibular gland primordium, trigeminal V, vagus X	OMIM|601540
Microglia	RP11.26H16.1	0.283510767	1.08E-05			
Microglia	H3F3C	0.391021179	1.11E-05	Unclassified		OMIM|616134
Microglia	HSPA9	0.519438761	1.23E-05	Chaperone	BrainSpLMD|3313	OMIM|600548;HPO|3313|Agenesis of corpus callosum, Atopic dermatitis, Autosomal dominant inheritance, Autosomal recessive inheritance, Brachycephaly, Coronal cleft vertebrae, Dysplasia of the femoral head, Epiphyseal dysplasia, High palate, Highly arched eyebrow, Hypodontia, Midface retrusion, Oligohydramnios, Patent foramen ovale, Recurrent urinary tract infections, Renal hypoplasia, Severe short stature, Short neck, Short nose, Sideroblastic anemia, Sparse hair
Microglia	MIS18BP1	0.822487987	1.26E-05	Transcription regulatory protein	BrainSpLMD|55320;Eurexp|euxassay_004198|ventricular layer	
Microglia	FUS	1.166787224	1.31E-05	RNA binding protein	BrainSpLMD|2521	OMIM|137070;COSMIC||liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma;HPO|2521|Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Decreased muscle mass, Depressivity, Dysarthria, Dyspnea, EMG abnormality, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Gait disturbance, Generalized muscle weakness, Hyperreflexia, Hyporeflexia, Muscle cramps, Neurodegeneration, Neuronal loss in central nervous system, Pain, Paralysis, Postural tremor, Proximal amyotrophy, Pseudobulbar behavioral symptoms, Respiratory failure, Skeletal muscle atrophy, Spasticity, Subcutaneous nodule, Xerostomia
Microglia	PRKACA	1.816972225	1.34E-05	Serine/threonine kinase	BrainSpLMD|5566;Eurexp|euxassay_018759|skeletal muscle, vertebral axis muscle system;BrainSpMouseDev|18511	OMIM|601639;COSMIC||fibrolamellar hepatocellular carcinoma, cortisol secreting adrenal adenoma;HPO|5566|Acne, Adrenal hyperplasia, Alopecia, Autosomal dominant inheritance, Bruising susceptibility, Depressivity, Diabetes mellitus, Dorsocervical fat pad, Emotional lability, Fatigue, Fragile skin, Hirsutism, Hypertension, Hypogonadism, Increased body weight, Increased susceptibility to fractures, Moon facies, Muscle weakness, Osteopenia, Osteoporosis, Pigmented micronodular adrenocortical disease, Primary hypercorticolism, Proximal muscle weakness, Short stature, Skeletal muscle atrophy, Slender build, Striae distensae, Thin skin
Microglia	MINOS1	0.566562377	1.38E-05	Unclassified		OMIM|616574
Microglia	MTA2	0.793054735	1.49E-05	Regulatory/other subunit	BrainSpLMD|9219;BrainSpMouseDev|23693	OMIM|603947
Microglia	ATP5E	0.6587475	1.49E-05			
Microglia	C18orf8	1.211238057	1.51E-05			
Microglia	RPS6KA3	0.991188471	1.62E-05	Serine/threonine kinase	BrainSpLMD|6197	SFARI||Autism, 4 - Minimal evidence;OMIM|300075;HPO|6197|Abnormal diaphysis morphology, Abnormal form of the vertebral bodies, Abnormality of dental morphology, Anteverted nares, Bifid sternum, Brachydactyly, Broad finger, Broad nasal tip, Broad palm, Coarse facial features, Coarse hair, Coxa valga, Craniofacial hyperostosis, Cutis laxa, Cutis marmorata, Decreased body weight, Delayed closure of the anterior fontanelle, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Dental malocclusion, Depressed nasal bridge, Downslanted palpebral fissures, Drumstick terminal phalanges, Epicanthus, Everted lower lip vermilion, Feeding difficulties in infancy, Frontal bossing, Gait disturbance, Generalized hypotonia, High palate, Highly arched eyebrow, Hyperconvex fingernails, Hyperextensibility of the finger joints, Hypertelorism, Hypodontia, Hypoplasia of the maxilla, Hypoplastic fingernail, Inguinal hernia, Intellectual disability, Joint hyperflexibility, Kyphoscoliosis, Kyphosis, Large hands, Long foot, Lumbar kyphosis, Mandibular prognathia, Microcephaly, Mitral regurgitation, Motor delay, Muscular hypotonia, Narrow iliac wings, Narrow palate, Neurological speech impairment, Open mouth, Pectus carinatum, Pectus excavatum, Pes planus, Progressive spasticity, Prominent forehead, Prominent supraorbital ridges, Protruding ear, Pseudoepiphyses of the metacarpals, Rectal prolapse, Redundant skin, Scoliosis, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Short distal phalanx of finger, Short metacarpal, Short stature, Single transverse palmar crease, Sporadic, Tapered finger, Telecanthus, Thick eyebrow, Thick lower lip vermilion, Thick nasal alae, Thick nasal septum, Thickened calvaria, Uterine prolapse, Ventriculomegaly, Wide mouth, Wide nose, Widely spaced teeth, X-linked dominant inheritance
Microglia	RP11.16E23.4	0.685388348	1.64E-05			
Microglia	NRIP1	0.790505894	1.74E-05	Transcription regulatory protein	BrainSpLMD|8204;Eurexp|euxassay_019638|ductus deferens, incisor, mantle layer, metanephros, midgut, olfactory, skeletal muscle, stomach, sublingual gland primordium, thymus primordium, urethra;BrainSpMouseDev|92612	OMIM|602490
Microglia	ATP5EP2	0.381825836	1.82E-05			
Microglia	CAPZA1	0.604947563	1.90E-05	Structural protein	BrainSpLMD|829;Eurexp|euxassay_000273|head mesenchyme, lung	OMIM|601580
Microglia	NAIP	1.395325034	1.92E-05	Unclassified		OMIM|600355
Microglia	PATL1	1.464095853	2.00E-05	Unclassified	BrainSpLMD|219988	OMIM|614660
Microglia	NAV3	0.410202525	2.02E-05	Unclassified	BrainSpLMD|89795	OMIM|611629
Microglia	TMEM70	1.430371605	2.02E-05	Unclassified	BrainSpLMD|54968;Eurexp|euxassay_004905|4th ventricle, adenohypophysis, adrenal gland, bladder, lateral ventricle, liver, lung, mantle layer, metanephros, midgut, olfactory, orbito-sphenoid, pharyngo-tympanic tube, respiratory, stomach, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, urethra, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|612418;HPO|54968|3-Methylglutaconic aciduria, Abnormal pulmonary valve morphology, Abnormality of the aortic valve, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Arrhythmia, Ataxia, Autosomal recessive inheritance, Camptodactyly of finger, Cerebral cortical atrophy, Congenital onset, Congestive heart failure, Cryptorchidism, Death in infancy, Encephalitis, Encephalopathy, Failure to thrive, Flat face, Flat occiput, Gastroparesis, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hyperalaninemia, Hyperammonemia, Hypertrophic cardiomyopathy, Hypospadias, Increased serum lactate, Inguinal hernia, Intellectual disability, moderate, Intrauterine growth retardation, Lactic acidosis, Leukoencephalopathy, Long philtrum, Low-set ears, Microcephaly, Microretrognathia, Moderate global developmental delay, Muscular hypotonia, Oligohydramnios, Premature birth, Respiratory failure, Respiratory insufficiency, Retrognathia, Short philtrum, Small for gestational age, Tremor, Umbilical hernia, Wide mouth, Wide nasal bridge
Microglia	HM13	0.936616875	2.08E-05	Protease	BrainSpLMD|81502	OMIM|607106
Microglia	CST3	1.037998678	2.10E-05	Protease inhibitor	BrainSpLMD|1471;Eurexp|euxassay_004853|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|12793	OMIM|604312;HPO|1471|Autosomal dominant inheritance, Cerebral amyloid angiopathy, Cerebral hemorrhage, Dementia, Generalized amyloid deposition, Intracranial hemorrhage, Stroke
Microglia	MPDU1	1.670358253	2.15E-05	Integral membrane protein	BrainSpLMD|9526	OMIM|604041;HPO|9526|Abnormality of vision, Absent speech, Ataxia, Autosomal recessive inheritance, Cerebral atrophy, Cognitive impairment, Congenital onset, Dry skin, Erythroderma, Failure to thrive, Flexion contracture, Generalized hypotonia, Global developmental delay, Hyperkeratosis, Microcephaly, Muscular hypotonia, Nystagmus, Optic atrophy, Scaling skin, Seizures, Strabismus
Microglia	RAB5C	0.883800344	2.22E-05	GTPase	BrainSpLMD|5878	OMIM|604037
Microglia	ATP6AP1	0.894367015	2.25E-05	Transport/cargo protein	BrainSpLMD|537;Eurexp|euxassay_014742|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|300197;HPO|537|Cirrhosis, Decreased antibody level in blood, Elevated hepatic transaminases, Hepatic steatosis, Hepatomegaly, Hypermetropia, Leukopenia, Prolonged neonatal jaundice, Recurrent bacterial infections, Sensorineural hearing impairment, Splenomegaly, Variable expressivity, X-linked recessive inheritance
Microglia	AMD1	0.949383384	2.31E-05	Enzyme: Decarboxylase	BrainSpLMD|262;Eurexp|euxassay_002401|axial muscle, orbito-sphenoid	OMIM|180980
Microglia	CSTB	1.252719616	2.31E-05	Protease inhibitor	BrainSpLMD|1476;Eurexp|euxassay_009738|bladder, mandible, maxilla, stomach, thymus primordium	OMIM|601145;HPO|1476|Absence seizures, Ataxia, Autosomal recessive inheritance, Dysarthria, EEG with polyspike wave complexes, Generalized tonic-clonic seizures, Intention tremor, Limb ataxia, Mental deterioration, Morning myoclonic jerks, Myoclonus
Microglia	NUFIP2	1.18198257	2.41E-05	RNA binding protein	BrainSpLMD|57532	OMIM|609356
Microglia	RTTN	1.340532462	2.41E-05	Unclassified	BrainSpLMD|25914	OMIM|610436;HPO|25914|Abnormality of the corpus callosum, Autosomal recessive inheritance, Dysarthria, EEG abnormality, Intellectual disability, moderate, Microcephaly, Mild short stature, Polymicrogyria, Poor speech, Seizures
Microglia	PAG1	0.340757202	2.45E-05	Adapter molecule	BrainSpLMD|55824	OMIM|605767
Microglia	IKBKB	0.883843937	2.48E-05	Serine/threonine kinase	BrainSpLMD|3551	OMIM|603258;COSMIC||SMZL, Immunodeficiency 15;HPO|3551|Agammaglobulinemia, Autosomal recessive inheritance, Chronic diarrhea, Failure to thrive, Immunodeficiency, Infantile onset, Respiratory tract infection
Microglia	VDAC1	0.780568432	2.48E-05	Voltage gated channel	BrainSpLMD|7416	OMIM|604492
Microglia	HNRNPUL1	1.091492543	2.51E-05	RNA binding protein	BrainSpLMD|11100	OMIM|605800
Microglia	SNAP23	1.38007906	2.65E-05	Transport/cargo protein	BrainSpLMD|8773;Eurexp|euxassay_005991|embryo	OMIM|602534
Microglia	ACADVL	2.047060521	2.74E-05	Enzyme: Dehydrogenase	BrainSpLMD|37;Eurexp|euxassay_018899|chondrocranium, lobe	OMIM|609575;HPO|37|Autosomal recessive inheritance, Decreased plasma carnitine, Dicarboxylic aciduria, Elevated serum creatine phosphokinase, Exercise-induced myalgia, Exercise-induced myoglobinuria, Exercise-induced rhabdomyolysis, Generalized hypotonia, Hepatic steatosis, Hepatocellular necrosis, Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy, Muscle stiffness, Muscle weakness, Nonketotic hypoglycemia, Sudden cardiac death, Tachypnea, Vomiting
Microglia	LINC00998	1.590075479	2.86E-05			
Microglia	RPL13	0.381963091	3.28E-05	Ribonucleoprotein	BrainSpLMD|6137	OMIM|113703
Microglia	ARL4A	1.15991676	3.28E-05	GTPase	BrainSpLMD|10124;Eurexp|euxassay_007257|lung, mandible, mantle layer, maxilla, meninges, oesophagus, urethra, vertebral axis muscle system	OMIM|604786
Microglia	RPL12P4	0.298047708	3.37E-05			
Microglia	PREX1	1.373400648	3.58E-05	Guanine nucleotide exchange factor	BrainSpLMD|57580;Eurexp|euxassay_007998|femur, humerus, mandible, mantle layer, marginal layer, maxilla, orbito-sphenoid, palatal shelf, rib, ventricular layer	SFARI||Autism, 3 - Suggestive evidence;OMIM|606905
Microglia	CHD1	1.1001055	3.58E-05	DNA binding protein	BrainSpLMD|1105	OMIM|602118
Microglia	PICALM	0.96675217	3.82E-05	Transport/cargo protein	BrainSpLMD|8301	OMIM|603025;COSMIC||T-ALL, AML
Microglia	MCF2L	1.033412992	3.82E-05	Guanine nucleotide exchange factor	BrainSpLMD|23263	OMIM|609499
Microglia	GNAS	0.98062869	3.83E-05	G protein	BrainSpLMD|2778	SFARI||Autism, No category;OMIM|139320;COSMIC||pituitary adenoma, pancreatic intraductal papillary mucinous neoplasm, fibrous dysplasia, McCune-Albright syndrome, pseudohypoparathyroidism, type IA;HPO|2778|Abnormality of the musculature, Abnormality of the skin, Adult onset, Agitation, Anxiety, Autosomal dominant inheritance, Basal ganglia calcification, Blindness, Bone pain, Brachydactyly, Broad 1st metacarpal, Bruising susceptibility, Cardiomyopathy, Cataract, Choroid plexus calcification, Coarse facial features, Cognitive impairment, Constrictive median neuropathy, Craniofacial hyperostosis, Decreased circulating ACTH level, Delayed eruption of teeth, Depressed nasal bridge, Depressivity, Diabetes mellitus, Ectopic calcification, Ectopic ossification, Ectopic ossification in muscle tissue, Elevated circulating parathyroid hormone level, Facial asymmetry, Failure to thrive, Fatigue, Fibrous dysplasia of the bones, Full cheeks, Galactorrhea, Generalized hirsutism, Generalized hyperpigmentation, Growth delay, Growth hormone deficiency, Growth hormone excess, Hearing impairment, Hyperparathyroidism, Hyperphosphatemia, Hypertension, Hyperthyroidism, Hypocalcemia, Hypocalcemic tetany, Hypogonadism, Hypophosphatemia, Hypoplasia of dental enamel, Hypothyroidism, Increased bone mineral density, Increased circulating cortisol level, Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}, Infantile onset, Intellectual disability, Intestinal polyposis, Juvenile onset, Kyphosis, Large cafe-au-lait macules with irregular margins, Left ventricular hypertrophy, Limitation of joint mobility, Low urinary cyclic AMP response to PTH administration, Macronodular adrenal hyperplasia, Menometrorrhagia, Menstrual irregularities, Mental deterioration, Mood changes, Multiple cafe-au-lait spots, Muscle weakness, Neoplasm, Nephrolithiasis, Nystagmus, Obesity, Osteoma, Osteopenia, Osteoporosis, Pathologic fracture, Phenotypic variability, Pituitary adenoma, Pituitary growth hormone cell adenoma, Pituitary prolactin cell adenoma, Pituitary resistance to thyroid hormone, Polyostotic fibrous dysplasia, Polyphagia, Precocious puberty, Primary hypercorticolism, Progressive, Prolactin excess, Prolactinoma, Pseudohypoparathyroidism, Psychosis, Recurrent fractures, Reduced bone mineral density, Round face, Seizures, Short 4th metacarpal, Short 5th metacarpal, Short fifth metatarsal, Short finger, Short metacarpal, Short metatarsal, Short neck, Short stature, Short toe, Skeletal dysplasia, Skeletal muscle atrophy, Somatic mosaicism, Somatic mutation, Sporadic, Striae distensae, Subcutaneous nodule, Thickened calvaria, Thin skin, Truncal obesity, Variable expressivity
Microglia	LGALS1	0.580116575	4.01E-05	Ligand	BrainSpLMD|3956;Eurexp|euxassay_004032|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|16623	OMIM|150570
Microglia	FRMD8	1.658802843	4.01E-05	Cytoskeletal associated protein	BrainSpLMD|83786;Eurexp|euxassay_012085|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, otic capsule, pelvic girdle, rib, scapula, temporal bone, tibia, turbinate	
Microglia	CALM2P2	0.295689971	4.08E-05			
Microglia	TCF25	1.008474674	4.15E-05	Unclassified	BrainSpLMD|22980;Eurexp|euxassay_011485|cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mandible, mantle layer, maxilla, molar, neural retina, orbito-sphenoid, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, vault of skull, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42698	OMIM|612326
Microglia	JMJD1C	0.812735511	4.39E-05	Transcription regulatory protein	BrainSpLMD|221037;Eurexp|euxassay_008985|mantle layer, ventricular layer;BrainSpMouseDev|72988	SFARI||Autism, 4 - Minimal evidence;OMIM|604503;HPO|221037|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
Microglia	FAM65A	1.778076982	4.52E-05			
Microglia	CTA.29F11.1	1.706690967	4.66E-05			
Microglia	TIPARP	0.77412148	4.92E-05	DNA binding protein	BrainSpLMD|25976	OMIM|612480
Microglia	ETV3	1.431430092	4.96E-05	Transcription factor	BrainSpLMD|2117;BrainSpMouseDev|26794	OMIM|164873
Microglia	RBM39	0.644984732	5.32E-05	RNA binding protein;Transcription regulatory protein	BrainSpLMD|9584	OMIM|604739
Microglia	WHAMM	1.900944402	5.34E-05	Unclassified		OMIM|612393
Microglia	EDEM1	1.145398077	5.65E-05	Unclassified	BrainSpLMD|9695	OMIM|607673
Microglia	MT.ND3	0.905861093	5.66E-05			
Microglia	RPL13AP5	0.287704473	5.92E-05			
Microglia	FAM133DP	0.998275086	5.96E-05			
Microglia	MNAT1	0.345585815	6.70E-05	Cell cycle control protein	BrainSpLMD|4331	OMIM|602659
Microglia	SLC8A1	0.797657591	6.72E-05	Membrane transport protein	BrainSpLMD|6546;Eurexp|euxassay_018859|atrium, brain, olfactory, respiratory, spinal cord, ventricle	OMIM|182305
Microglia	ARL6IP5	0.954991025	6.89E-05	Unclassified	BrainSpLMD|10550	OMIM|605709
Microglia	STAT3	1.271458872	7.04E-05	Transcription factor	BrainSpLMD|6774;Eurexp|euxassay_004868|axial skeleton, choroid invagination, dorsal grey horn, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mantle layer, mesenchyme, metatarsus, phalanx, thymus primordium, trigeminal V, ventral grey horn, ventricular layer;BrainSpMouseDev|20610	OMIM|102582;COSMIC||T-cell large granular lymphocytic leukaemia, paediatric large granular lymphocytic leukaemia, IPEX-like syndrome;HPO|6774|Abnormal heart morphology, Abnormality of the hair, Arthrogryposis multiplex congenita, Atelectasis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Autosomal dominant inheritance, Bilateral ptosis, Celiac disease, Chronic otitis media, Cleft palate, Coarse facial features, Contractures of the joints of the lower limbs, Cough, Decreased antibody level in blood, Deeply set eye, Dehydration, Delayed eruption of teeth, Downturned corners of mouth, Dystrophic fingernails, Eczema, Eczematoid dermatitis, Eosinophilia, Failure to thrive, Frontal bossing, Generalized abnormality of skin, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Gingivitis, Global developmental delay, Glycosuria, High palate, Hyperglycemia, Hypertelorism, Hypovolemia, Increased IgE level, Infantile onset, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Ketonuria, Microalbuminuria, Motor delay, Neonatal insulin-dependent diabetes mellitus, Osteopenia, Papule, Paronychia, Persistence of primary teeth, Prominent forehead, Prominent metopic ridge, Pruritus, Recurrent Staphylococcus aureus infections, Recurrent fractures, Recurrent fungal infections, Recurrent respiratory infections, Recurrent sinopulmonary infections, Reduced pancreatic beta cells, Retinopathy, Scoliosis, Short stature, Skin rash, Skin ulcer, Weight loss, Wide nasal bridge, Wide nose
Microglia	SLC25A3	0.693384127	7.19E-05	Transport/cargo protein	BrainSpLMD|5250	OMIM|600370;HPO|5250|Abnormal mitochondrial shape, Abnormality of the mitochondrion, Autosomal recessive inheritance, Cyanosis, Failure to thrive, Hypertrophic cardiomyopathy, Increased serum lactate, Lactic acidosis, Low-output congestive heart failure, Metabolic acidosis, Muscular hypotonia, Myopathy, Respiratory insufficiency
Microglia	ACTR3	0.791823272	7.45E-05	Cytoskeletal protein	BrainSpLMD|10096	OMIM|604222
Microglia	OAZ1	1.167127789	7.67E-05	Unclassified	BrainSpLMD|4946	OMIM|601579
Microglia	ANKH	0.781767759	7.71E-05	Membrane transport protein	BrainSpLMD|56172	OMIM|605145;HPO|56172|Abnormality of pelvic girdle bone morphology, Abnormality of the intervertebral disk, Abnormality of the metaphysis, Abnormality of the nasopharynx, Abnormality of the vertebral column, Adult onset, Arthralgia, Arthritis, Arthropathy, Autosomal dominant inheritance, Bony paranasal bossing, Calcification of cartilage, Calvarial osteosclerosis, Club-shaped distal femur, Craniofacial hyperostosis, Depressed nasal bridge, Erlenmeyer flask deformity of the femurs, Facial palsy, Hypertelorism, Joint swelling, Macrocephaly, Mandibular prognathia, Metaphyseal widening, Misalignment of teeth, Mixed hearing impairment, Nasal obstruction, Osteoarthritis, Osteopetrosis, Polyarticular chondrocalcinosis, Sclerosis of skull base, Skeletal dysplasia, Telecanthus, Wide nasal bridge
Microglia	SRPR	1.602484301	8.13E-05			
Microglia	PIH1D1	0.906024145	8.31E-05	Unclassified	BrainSpLMD|55011	OMIM|611480
Microglia	MFSD11	0.93012367	8.44E-05	Integral membrane protein	BrainSpLMD|79157	
Microglia	DDX39A	0.75385806	8.74E-05	RNA helicase	BrainSpLMD|10212	
Microglia	FAM217B	0.470358185	9.13E-05	Unclassified	BrainSpLMD|63939	
Microglia	AP3B1	0.707886792	9.68E-05	Adapter molecule	BrainSpLMD|8546	OMIM|603401;HPO|8546|Aberrant melanosome maturation, Acetabular dysplasia, Albinism, Autosomal recessive inheritance, Carious teeth, Coarse facial features, Congenital onset, Fair hair, Hepatomegaly, Hip dysplasia, Intellectual disability, mild, Long philtrum, Low-set ears, Microcephaly, Motor delay, Neutropenia, Nystagmus, Ocular albinism, Periodontitis, Photophobia, Posteriorly rotated ears, Pulmonary fibrosis, Recurrent bacterial infections, Reduced visual acuity, Smooth philtrum, Splenomegaly, Strabismus, Thin upper lip vermilion, Thrombocytopenia, Upslanted palpebral fissure, Visual impairment, Wide nasal bridge
Microglia	RP11.153M3.1	0.581940917	9.69E-05			
Microglia	MT.TE	0.541764833	9.77E-05			
Microglia	ZNF800	0.934479056	9.77E-05	DNA binding protein	BrainSpLMD|168850	
Microglia	ZFAND5	0.936334158	0.000100061	DNA binding protein	BrainSpLMD|7763	OMIM|604761
Microglia	GGCX	1.489941979	0.000100898	Enzyme: Carboxylase	BrainSpLMD|2677	OMIM|137167;HPO|2677|Abnormal bleeding, Abnormality of coagulation, Abnormality of the optic nerve, Absent retinal pigment epithelium, Angioid streaks of the retina, Atherosclerosis, Attenuation of retinal blood vessels, Autosomal recessive inheritance, Bruising susceptibility, Cutis laxa, Epiphyseal stippling, Epistaxis, Increased number of skin folds, Joint hemorrhage, Nyctalopia, Papule, Prolonged partial thromboplastin time, Reduced factor IX activity, Reduced factor VII activity, Reduced factor X activity, Reduced prothrombin activity, Redundant skin, Rod-cone dystrophy, Short distal phalanx of finger, Short nose, Strabismus
Microglia	PELI1	1.09598622	0.000102636	Adapter molecule	BrainSpLMD|57162;Eurexp|euxassay_011663|cortex, forebrain, hindbrain, incisor, lung, marginal layer, midbrain, molar, neural retina, olfactory, spinal cord, submandibular gland primordium, thymus primordium, vibrissa, vomeronasal organ	OMIM|614797
Microglia	ARPC4	0.947405698	0.000109858	Cytoskeletal associated protein	Eurexp|euxassay_002361|dorsal root ganglion	OMIM|604226
Microglia	MT.CYB	0.444052184	0.000112504			
Microglia	CITED2	1.866141802	0.000118498	Transcription regulatory protein	BrainSpLMD|10370;BrainSpMouseDev|17451	OMIM|602937;HPO|10370|Abnormal nasal morphology, Atrial septal defect, Autosomal dominant inheritance, Brachydactyly, Broad forehead, Clinodactyly of the 5th finger, Cryptorchidism, Dolichocephaly, Intrauterine growth retardation, Perimembranous ventricular septal defect, Preauricular pit, Proptosis, Tetralogy of Fallot, Thin vermilion border, Underdeveloped supraorbital ridges
Microglia	RP11.680H20.1	0.395202557	0.000119076			
Microglia	IRS2	0.56117243	0.000133102	Adapter molecule	BrainSpLMD|8660;Eurexp|euxassay_014216|cortex, dorsal root ganglion, incisor, lip, molar, skeleton, skin, thymus primordium, ventricular layer	OMIM|600797
Microglia	ZNFX1	1.169436756	0.000134681	Transcription regulatory protein	BrainSpLMD|57169	
Microglia	LDLRAD4	0.268653895	0.000134794	Integral membrane protein	BrainSpLMD|753	OMIM|606571
Microglia	SH3KBP1	0.793434263	0.000137965	Adapter molecule	BrainSpLMD|30011	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300374
Microglia	METTL7A	1.087920312	0.000141986	Enzyme: Methyltransferase	BrainSpLMD|25840	
Microglia	ATP6AP2	0.660274345	0.000142334	Cell surface receptor	BrainSpLMD|10159	OMIM|300556;HPO|10159|Action tremor, Agraphesthesia, Astereognosia, Autosomal recessive inheritance, Babinski sign, Bradykinesia, Cerebellar atrophy, Cerebral atrophy, Cogwheel rigidity, Delayed speech and language development, Gait disturbance, Generalized tonic-clonic seizures, Hypomimic face, Hypoplasia of the corpus callosum, Hyporeflexia, Infantile onset, Intellectual disability, Motor delay, Parkinsonism, Resting tremor, Slow progression, Variable expressivity, X-linked recessive inheritance
Microglia	FKBP4	1.424310832	0.000150794	Enzyme: Isomerase	BrainSpLMD|2288	OMIM|600611
Microglia	RPLP2	0.34979983	0.000160089	Ribosomal subunit		OMIM|180530
Microglia	ATP1B3	1.022525171	0.000161467	ATPase	BrainSpLMD|483	OMIM|601867
Microglia	RBBP6	0.794800855	0.000161863	Ubiquitin proteasome system protein	BrainSpLMD|5930;Eurexp|euxassay_008162|left lung, right lung	OMIM|600938
Microglia	ANKDD1A	1.516287593	0.000177738	Unclassified	BrainSpLMD|348094	
Microglia	HPS5	1.642542342	0.000184772	Unclassified	BrainSpLMD|11234	OMIM|607521;HPO|11234|Albinism, Autosomal recessive inheritance, Bruising susceptibility, Ocular albinism, Thrombocytopenia
Microglia	SELK	0.774019598	0.000189636			
Microglia	TBC1D22A	1.536634286	0.000191665	GTPase activating protein	BrainSpLMD|25771	OMIM|616879
Microglia	TGOLN2	0.929146504	0.000196889	Membrane transport protein	BrainSpLMD|10618	OMIM|603062
Microglia	HSP90AB1	0.656638269	0.000204129	Chaperone	BrainSpLMD|3326	OMIM|140572;COSMIC||NHL
Microglia	NCK2	0.997999248	0.00021232	Adapter molecule	BrainSpLMD|8440;BrainSpMouseDev|17741	OMIM|604930
Microglia	GALNT1	1.367221299	0.000220655	Enzyme: Galactosyltransferase	BrainSpLMD|2589;Eurexp|euxassay_004959|4th ventricle, clavicle, incisor, liver, lung, mandible, maxilla, metanephros, orbito-sphenoid, palatal shelf, retina, thymus primordium, trachea, ventricular layer	OMIM|602273
Microglia	CHSY1	0.77048497	0.000222253	Enzyme: Glycosyltransferase	BrainSpLMD|22856	OMIM|608183;HPO|22856|Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Brachydactyly, Carpal synostosis, Clinodactyly, Deep philtrum, Diastema, Highly arched eyebrow, Hitchhiker thumb, Microdontia, Short metacarpal, Short metatarsal, Syndactyly, Synophrys, Talon cusp, Tarsal synostosis
Microglia	GSTO1	1.326176039	0.000222333	Enzyme: Glutathione transferase	BrainSpLMD|9446;Eurexp|euxassay_018672|midgut, oesophagus, stomach	OMIM|605482
Microglia	TGFBR1	0.532059621	0.000223095	Receptor serine/threonine kinase	BrainSpLMD|7046;Eurexp|euxassay_018304|olfactory, vomeronasal organ;BrainSpMouseDev|21571	OMIM|190181;HPO|7046|Abnormality of the iris, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Arachnodactyly, Arterial dissection, Arterial tortuosity, Ascending aortic dissection, Atypical scarring of skin, Bifid uvula, Blue sclerae, Camptodactyly of finger, Cardiomegaly, Chest pain, Coronary artery disease, Craniosynostosis, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Exertional dyspnea, High palate, Hypertelorism, Hypertension, Left ventricular failure, Malar flattening, Micrognathia, Oral cleft, Paroxysmal dyspnea, Patent ductus arteriosus, Pes planus, Scoliosis, Striae distensae, Tall stature, Uterine rupture
Microglia	ADPGK	0.841972975	0.000232798	Enzyme: Phosphorylase	BrainSpLMD|83440;Eurexp|euxassay_002586|axial muscle, orbito-sphenoid	OMIM|611861
Microglia	LRIF1	0.64172315	0.000233414	Unclassified	BrainSpLMD|55791	OMIM|615354
Microglia	HSP90B1	0.475789538	0.000256635	Heat shock protein	BrainSpLMD|7184;Eurexp|euxassay_000099|body-wall mesenchyme, dermis, epidermis, nucleus pulposus	OMIM|191175
Microglia	SMG1P3	1.513452089	0.000257016			
Microglia	DNAJC3	0.622753907	0.000259292	Translation regulatory protein	BrainSpLMD|5611	OMIM|601184;HPO|5611|Atrophy/Degeneration affecting the brainstem, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Sensorineural hearing impairment, Short stature, Type I diabetes mellitus
Microglia	MALAT1	0.51186507	0.000265599		BrainSpLMD|378938	OMIM|607924;COSMIC||renal cell carcinoma (childhood epithelioid), lung
Microglia	ODC1	0.774282587	0.000266679	Enzyme: Decarboxylase	BrainSpLMD|4953	OMIM|165640
Microglia	SPRED1	1.188635373	0.000278421	Unclassified	BrainSpLMD|161742	OMIM|609291;HPO|161742|Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Axillary freckling, Cafe-au-lait spot, Downslanted palpebral fissures, Epicanthus, Generalized hypotonia, High, narrow palate, Hypertelorism, Low posterior hairline, Low-set, posteriorly rotated ears, Macrocephaly, Micrognathia, Multiple lipomas, Neurofibromas, Ptosis, Short neck, Specific learning disability, Triangular face
Microglia	WBSCR22	1.495087535	0.000284518			
Microglia	ELMSAN1	1.08015282	0.000289576	DNA binding protein	BrainSpLMD|91748	
Microglia	CLEC2D	1.456315651	0.000292985	Cell surface receptor	BrainSpLMD|29121	OMIM|605659
Microglia	JMJD6	1.307499721	0.000296807	Integral membrane protein	BrainSpLMD|23210;Eurexp|euxassay_003150|axial skeleton, chondrocranium, incisor, molar, nasal capsule, submandibular gland primordium, vibrissa	OMIM|604914
Microglia	NCOA7	1.661717017	0.000297804	Transcription regulatory protein	BrainSpLMD|135112	OMIM|609752
Microglia	SCML1	1.270166964	0.000301781	Transcription regulatory protein	BrainSpLMD|6322	OMIM|300227
Microglia	HSP90AA6P	0.366463027	0.000307611			
Microglia	RPS23P8	0.361143334	0.000309668			
Microglia	TFRC	1.045785271	0.000313484	Membrane transport protein	BrainSpLMD|7037;Eurexp|euxassay_005557|left, left lung, meninges, midgut, right, right lung, stomach, submandibular gland primordium	OMIM|190010;COSMIC||NHL;HPO|7037|Autosomal recessive inheritance, Decreased antibody level in blood, Neutropenia
Microglia	RP5.857K21.11	0.551324023	0.000313661			
Microglia	CLK1	0.853998296	0.000316576	Dual specificity kinase	BrainSpLMD|1195	OMIM|601951
Microglia	ANKRD10.IT1	1.219769347	0.000327011			
Microglia	RAP1B	1.079434092	0.000341273	GTPase	BrainSpLMD|5908	OMIM|179530;HPO|5908|Abnormal dermatoglyphics, Abnormality of the cardiac septa, Butterfly vertebrae, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Conductive hearing impairment, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Hemivertebrae, High palate, Highly arched eyebrow, Hydrocephalus, Hypodontia, Joint hyperflexibility, Long eyelashes, Macrotia, Microcephaly, Microdontia, Muscular hypotonia, Protruding ear, Ptosis, Recurrent infections, Scoliosis, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Sparse lateral eyebrow, Strabismus, Ventriculomegaly, Widely spaced teeth
Microglia	PRPF38B	0.691178132	0.000345806	RNA binding protein	BrainSpLMD|55119	
Microglia	MTUS1	1.483220854	0.000347543	Growth inhibitory factor	BrainSpLMD|57509	OMIM|609589
Microglia	RABGEF1	1.208658446	0.000355417	Guanine nucleotide exchange factor	BrainSpLMD|27342	OMIM|609700
Microglia	RPL22L1	0.876297715	0.000357161	Unclassified		
Microglia	PLXNB2	1.796509619	0.000375115	Cell surface receptor	Eurexp|euxassay_014231|choroid plexus, mandible, marginal layer, molar, naris, olfactory, ventricular layer, vomeronasal organ;BrainSpMouseDev|79944	OMIM|604293
Microglia	BRI3	1.172193619	0.000378609	Integral membrane protein	BrainSpLMD|25798	OMIM|615628
Microglia	RPS16	0.910433355	0.000384545	Ribosomal subunit	BrainSpLMD|6217	OMIM|603675
Microglia	SLC11A2	0.790115025	0.000421767	Transport/cargo protein	BrainSpLMD|4891	OMIM|600523;HPO|4891|Abnormality of metabolism/homeostasis, Abnormality of the liver, Anemia, Autosomal recessive inheritance, Decreased mean corpuscular volume
Microglia	RANBP9	0.274838748	0.000430859	Cytoskeletal associated protein	BrainSpLMD|10048	OMIM|603854
Microglia	ANKRD10	0.312210444	0.00044421	Unclassified	BrainSpLMD|55608	
Microglia	RP11.333E13.2	1.21896511	0.000460098			
Microglia	AFF4	0.47632677	0.000467611	Transcription factor	BrainSpLMD|27125	SFARI||Autism, 6 - Evidence does not support role;OMIM|604417;COSMIC||ALL;HPO|27125|Abnormality of the cardiac septa, Aspiration pneumonia, Autosomal dominant inheritance, Brachydactyly, Chronic lung disease, Coarse facial features, Congenital onset, Cryptorchidism, Downturned corners of mouth, Gastroesophageal reflux, Global developmental delay, Hypertelorism, Intellectual disability, Laryngomalacia, Long eyelashes, Obesity, Patent ductus arteriosus, Proptosis, Round face, Short nose, Short stature, Thick eyebrow, Thick hair, Tracheal stenosis, Vesicoureteral reflux
Microglia	C12orf65	0.655335187	0.000477582	Unclassified	BrainSpLMD|91574	OMIM|613541;HPO|91574|Abnormality of color vision, Areflexia, Ataxia, Autosomal recessive inheritance, Developmental regression, Distal sensory impairment, Dysarthria, Facial diplegia, Failure to thrive, Generalized hypotonia, Global developmental delay, Increased CSF lactate, Increased serum lactate, Intellectual disability, Nystagmus, Ophthalmoplegia, Optic atrophy, Paralytic ileus, Progressive, Ptosis, Skeletal muscle atrophy, Spasticity, Strabismus, Visual impairment
Microglia	NPIPB3	0.938001425	0.000479326	Unclassified	BrainSpLMD|23117	
Microglia	ITM2C	1.046471259	0.000491636	Integral membrane protein	BrainSpLMD|81618	OMIM|609554
Microglia	OSER1	0.752848064	0.000495332	Unclassified	BrainSpLMD|51526	
Microglia	SNAPC1	1.754742708	0.000501383	Transcription regulatory protein	BrainSpLMD|6617	OMIM|600591
Microglia	EMC3	0.830363115	0.000506198	Integral membrane protein	BrainSpLMD|55831	
Microglia	PTGES3P1	0.462207403	0.000507685			
Microglia	DNAJA1	0.655097052	0.000515287	Heat shock protein	BrainSpLMD|3301	OMIM|602837
Microglia	SRSF5	0.295057847	0.000517876	RNA binding protein	BrainSpLMD|6430	OMIM|600914
Microglia	ARPC3P5	0.478316689	0.000520152			
Microglia	RP11.592N21.1	0.366778227	0.000523215			
Microglia	RAB8A	0.917820077	0.000546947	GTPase	BrainSpLMD|4218	OMIM|165040
Microglia	SDCCAG8	0.747263593	0.000549189	Unclassified	BrainSpLMD|10806	OMIM|613524;HPO|10806|Abnormal electroretinogram, Abnormality of retinal pigmentation, Asthma, Ataxia, Autosomal recessive inheritance, Biliary tract abnormality, Brachydactyly, Broad foot, Bronchiolitis, Cognitive impairment, Congenital primary aphakia, Decreased testicular size, Delayed speech and language development, Dental crowding, Diabetes mellitus, External genital hypoplasia, Foot polydactyly, Gait imbalance, Global developmental delay, Hepatic fibrosis, High, narrow palate, Hirsutism, Hypertension, Hypodontia, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Left ventricular hypertrophy, Multicystic kidney dysplasia, Nephrogenic diabetes insipidus, Nephronophthisis, Neurological speech impairment, Nystagmus, Obesity, Pigmentary retinopathy, Poor coordination, Postaxial hand polydactyly, Premature ovarian insufficiency, Progressive visual loss, Radial deviation of finger, Recurrent otitis media, Recurrent respiratory infections, Renal agenesis, Renal cyst, Renal dysplasia, Renal insufficiency, Respiratory distress, Retinal degeneration, Retinal dystrophy, Rod-cone dystrophy, Short foot, Short stature, Specific learning disability, Stage 5 chronic kidney disease, Strabismus, Syndactyly, Visual impairment
Microglia	USP4	1.032694219	0.000551996	Ubiquitin proteasome system protein	BrainSpLMD|7375	OMIM|603486
Microglia	ZNF217	1.363936217	0.000553741	Transcription factor	BrainSpLMD|7764	OMIM|602967
Microglia	VASH1	0.719952806	0.000557913	Growth inhibitory factor	BrainSpLMD|22846;Eurexp|euxassay_009040|dorsal root ganglion, glossopharyngeal IX, marginal layer, trigeminal V, vagus X	SFARI||Autism, 4 - Minimal evidence;OMIM|609011
Microglia	ANKRD13D	0.849639705	0.000574858	Ubiquitin proteasome system protein	BrainSpLMD|338692	OMIM|615126
Microglia	TPD52L2	1.430299563	0.000577658	Unclassified	BrainSpLMD|7165	OMIM|603747
Microglia	MTCH1	1.156739831	0.000624227	Unclassified	BrainSpLMD|23787;Eurexp|euxassay_007787|choroid invagination, choroid plexus, marginal layer, roof plate, thyroid	OMIM|610449
Microglia	TMED9	1.231432039	0.000636693	Unclassified		
Microglia	TWISTNB	1.644450841	0.000670197	Transcription factor	BrainSpLMD|221830	OMIM|608312
Microglia	ADAM17	1.188944484	0.000672913	Metallo protease	BrainSpLMD|6868;BrainSpMouseDev|11279	OMIM|603639;HPO|6868|Autosomal recessive inheritance, Blepharitis, Eosinophilia, Erythema, Erythroderma, Hematochezia, Paronychia, Pustule, Thick nail, Villous atrophy
Microglia	HMGXB3	0.669356632	0.000690187	Unclassified	BrainSpMouseDev|71059	
Microglia	PHYKPL	1.54273758	0.000708968	Unclassified	BrainSpLMD|85007	OMIM|614683
Microglia	AKR1A1	0.857793302	0.000710803	Enzyme: Oxidoreductase	BrainSpLMD|10327	OMIM|103830
Microglia	UBL5	0.390822896	0.00071143	Ubiquitin proteasome system protein	BrainSpLMD|59286	OMIM|606849
Microglia	NPIPB5	0.814988718	0.000725571			
Microglia	NDE1	1.790585294	0.000733823	Cytoskeletal associated protein	BrainSpLMD|54820;Eurexp|euxassay_010375|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ;BrainSpMouseDev|43046	OMIM|609449;HPO|54820|Agenesis of corpus callosum, Athetosis, Autosomal recessive inheritance, Cerebellar hypoplasia, Congenital onset, Cortical gyral simplification, Generalized myoclonic seizures, Global developmental delay, Hydranencephaly, Hyperreflexia, Hypoplasia of the brainstem, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Lissencephaly, Macrotia, Microcephaly, Multiple joint contractures, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Proptosis, Seizures, Self-mutilation, Short stature, Skeletal muscle atrophy, Sloping forehead, Spastic tetraplegia, Talipes equinovarus, Ventriculomegaly
Microglia	SNX5	0.736839064	0.000753059	Transport/cargo protein	BrainSpLMD|27131;Eurexp|euxassay_011463|clavicle, cortex, epithelium, exoccipital bone, floor plate, fundus region, hindgut, incisor, lobe, lung, mandible, marginal layer, maxilla, midgut, molar, naris, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, roof, stomach, submandibular gland primordium, temporal bone, thymus primordium, thyroid, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|605937
Microglia	MIDN	0.714822985	0.000773677	Unclassified		OMIM|606700
Microglia	SKIDA1	0.329547566	0.00078629	Unclassified	BrainSpLMD|387640;Eurexp|euxassay_003843|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	
Microglia	CDV3	0.638082645	0.000792955	Unclassified	BrainSpLMD|55573	
Microglia	TCP1	0.402092725	0.000794821	Chaperone	BrainSpLMD|6950	OMIM|186980
Microglia	PFKFB3	1.386231536	0.000841237	Enzyme: Phosphatase	BrainSpLMD|5209;Eurexp|euxassay_018400|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, incisor, neural retina, orbito-sphenoid, otic capsule, pelvic girdle, rib, scapula, temporal bone, tibia, turbinate, vibrissa	OMIM|605319
Microglia	MAGT1	1.011528419	0.00086343	Unclassified	BrainSpLMD|84061	OMIM|300715;HPO|84061|Decreased T cell activation, Decreased number of CD4+ T cells, Immunodeficiency, Lymphoma, Recurrent viral infections, X-linked inheritance
Microglia	FXR2	1.473450483	0.000882211	RNA binding protein	BrainSpLMD|9513	OMIM|605339
Microglia	RANGAP1	1.300970328	0.000885117	GTPase activating protein	BrainSpLMD|5905;Eurexp|euxassay_018242|brain	OMIM|602362
Microglia	ACSL3	0.398988112	0.000886926	Enzyme: Ligase	BrainSpLMD|2181;Eurexp|euxassay_006620|embryo	OMIM|602371;COSMIC||prostate
Microglia	MAFG	1.427986941	0.000912999	Transcription factor	BrainSpLMD|4097;Eurexp|euxassay_019502|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, liver, lung, mantle layer, metanephros, midgut, molar, olfactory, stomach, submandibular gland primordium, testis, trigeminal V, vibrissa;BrainSpMouseDev|16904	OMIM|602020
Microglia	SPATS2L	1.105201358	0.000917649	Unclassified	BrainSpLMD|26010;Eurexp|euxassay_013635|bladder, exoccipital bone, mantle layer, mesenchyme, oesophagus, orbito-sphenoid, penis, pharyngo-tympanic tube, tongue, turbinate, vertebral axis muscle system, vibrissa	OMIM|613817
Microglia	RP11.110G21.2	0.523605082	0.000921751			
Microglia	RNF19B	0.835111744	0.00093853	Ubiquitin proteasome system protein	BrainSpLMD|127544	OMIM|610872
Microglia	ZNF433	0.796617421	0.000955674	DNA binding protein	BrainSpLMD|163059	
Microglia	MAP3K2	0.376637423	0.000980708	Serine/threonine kinase	BrainSpLMD|10746	OMIM|609487
Microglia	PDIA3	0.994182168	0.001024621	Enzyme: Isomerase		OMIM|602046
Microglia	BAG6	1.010555542	0.001030671	Unclassified;MHC complex protein	BrainSpLMD|7917	OMIM|142590
Microglia	DARS2	1.078347644	0.001077025	Unclassified	BrainSpLMD|55157	OMIM|610956;HPO|55157|Ataxia, Autosomal recessive inheritance, Babinski sign, Flexion contracture, Hyperreflexia, Hyporeflexia, Leukoencephalopathy, Motor delay, Muscle weakness, Nystagmus, Peripheral axonal neuropathy, Skeletal muscle atrophy, Slow progression, Spasticity, Tremor, Variable expressivity
Microglia	SETD8	1.154192117	0.001116607			
Microglia	UBL3	0.627725392	0.001126648	Ubiquitin proteasome system protein	BrainSpLMD|5412	OMIM|604711
Microglia	TNFRSF21	0.979282852	0.00116464	Cell surface receptor	BrainSpLMD|27242;Eurexp|euxassay_012361|anterior, brain, calyces, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, lip, meninges, mesenchyme, olfactory, pelvis, posterior, right lung, spinal cord, stomach, trigeminal V, ureter, utricle, vagus X, vestibulocochlear VIII	OMIM|605732
Microglia	HEXIM1	1.461580682	0.001166176	Transcription factor	BrainSpLMD|10614	OMIM|607328
Microglia	RHOA	0.676743503	0.001204937	GTPase	BrainSpLMD|387;BrainSpMouseDev|11635	OMIM|165390;COSMIC||diffuse gastric, T cell lymphomas, paediatric Burkitt lymphoma
Microglia	CHST11	0.602339884	0.001212281	Enzyme: Sulphotransferase	BrainSpLMD|50515	OMIM|610128;COSMIC||B-CLL
Microglia	PET100	0.253267252	0.001239386			OMIM|614770;HPO|100131801|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
Microglia	WDR37	1.24924992	0.001285417	Unclassified	BrainSpLMD|22884;Eurexp|euxassay_007507|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
Microglia	FSCN1	0.845201098	0.001311379	Structural protein	BrainSpLMD|6624	OMIM|602689
Microglia	ADIPOR1	1.138315237	0.001342639	Integral membrane protein	BrainSpLMD|51094	OMIM|607945
Microglia	ATP1A1	1.246175315	0.001359416	ATPase	BrainSpLMD|476;BrainSpMouseDev|11714	OMIM|182310;COSMIC||adrenal aldosterone producing adenoma
Microglia	TANK	0.842813207	0.001374197	Adapter molecule	BrainSpLMD|10010;Eurexp|euxassay_010622|mandible, maxilla, submandibular gland primordium	OMIM|603893
Microglia	ATP6V0D1	0.758727178	0.001379909	ATPase	BrainSpLMD|9114;Eurexp|euxassay_000642|dorsal root ganglion, facial VII, inferior, superior, trigeminal V, vagus X	OMIM|607028
Microglia	PITPNA	0.741489448	0.001387393	Transport/cargo protein	BrainSpLMD|5306	OMIM|600174
Microglia	APPL2	0.606227873	0.001406301	Unclassified	BrainSpLMD|55198;Eurexp|euxassay_000187|corpus striatum, dental papilla, epithelium, footplate, handplate, medulla, mesenchyme, parenchyma, stomach, thalamus, ventricular layer	OMIM|606231
Microglia	SLC25A5	0.640095591	0.001436044	Integral membrane protein		OMIM|300150
Microglia	RN7SK	1.226203996	0.001493908			OMIM|606515
Microglia	KDM7A	0.902293976	0.001495219	Unclassified		
Microglia	MT.ATP6	0.491253072	0.001509587			
Microglia	ROCK2	0.312481265	0.001529432	Serine/threonine kinase	BrainSpLMD|9475;BrainSpMouseDev|19641	OMIM|604002
Microglia	RAD23A	1.302405712	0.001538339	DNA repair protein	BrainSpLMD|5886	OMIM|600061
Microglia	NAGK	0.616991662	0.001546304	Enzyme: Phosphotransferase	BrainSpLMD|55577	OMIM|606828
Microglia	CLTC	0.596998005	0.001561672	Structural protein	BrainSpLMD|1213	OMIM|118955;COSMIC||ALCL, renal
Microglia	COPA	0.540746312	0.001621503	Transport/cargo protein	BrainSpLMD|1314;Eurexp|euxassay_003303|clavicle, mandible, maxilla, rib	OMIM|601924
Microglia	ACTB	0.440728847	0.001651209	Cytoskeletal protein	BrainSpLMD|60;BrainSpMouseDev|11250	OMIM|102630;HPO|60|Abnormality of metabolism/homeostasis, Achalasia, Agenesis of corpus callosum, Anteverted nares, Aortic valve stenosis, Aphasia, Autosomal dominant inheritance, Autosomal recessive inheritance, Bicuspid aortic valve, Blindness, Cataract, Cerebral cortical hemiatrophy, Chorioretinal coloboma, Cleft palate, Cleft upper lip, Coarse facial features, Cryptorchidism, Death in early adulthood, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Dysphagia, Dysphasia, Echolalia, Epicanthus, Euryblepharon, Externally rotated hips, Failure to thrive, Feeding difficulties, Full cheeks, Generalized dystonia, Generalized hypotonia, Global developmental delay, Growth delay, Heterochromia iridis, High forehead, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplastic scapulae, Immunodeficiency, Intellectual disability, Intellectual disability, mild, Iris coloboma, Joint stiffness, Kyphoscoliosis, Kyphosis, Large fontanelles, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Macroglossia, Macrogyria, Mental deterioration, Microcephaly, Micrognathia, Micromelia, Micropenis, Mild global developmental delay, Mutism, Oral cleft, Osteochondrosis, Overfolded helix, Pachygyria, Patent ductus arteriosus, Pointed chin, Polymicrogyria, Postnatal growth retardation, Prominent epicanthal folds, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Scoliosis, Seizures, Sensorineural hearing impairment, Short columella, Short neck, Short nose, Short stature, Skeletal dysplasia, Small for gestational age, Specific learning disability, Subcortical cerebral atrophy, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Trigonocephaly, Wide mouth, Wide nasal bridge, Wide nose
Microglia	SH3BP2	1.129716827	0.001701971	Adapter molecule	BrainSpLMD|6452;Eurexp|euxassay_002277|brain, diencephalon, hindbrain, mantle layer, marginal layer, midbrain, spinal cord, telencephalon	OMIM|602104;HPO|6452|Abnormality of dental morphology, Autosomal dominant inheritance, Bone cyst, Broad jaw, Childhood onset, Constriction of peripheral visual field, Full cheeks, Lower eyelid retraction, Macular scar, Marcus Gunn pupil, Oligodontia, Optic neuropathy, Proptosis, Reduced visual acuity, Round face, Striae distensae, Visual impairment
Microglia	FAM21A	1.12946689	0.001795594			
Microglia	TBC1D9B	1.097867479	0.001848312	Unclassified	BrainSpLMD|23061	
Microglia	H3F3B	0.471054031	0.001932178	DNA binding protein	BrainSpLMD|3021;Eurexp|euxassay_005704|embryo	OMIM|601058;COSMIC||chondroblastoma
Microglia	CTB.89H12.4	0.803835217	0.001971834			
Microglia	OTULIN	1.068882314	0.002012839	Unclassified	BrainSpLMD|90268	OMIM|615712;HPO|90268|Arthralgia, Autosomal recessive inheritance, Failure to thrive, Joint swelling, Leukocytosis, Lipodystrophy, Lymphadenopathy, Myalgia, Neutrophilia
Microglia	RPN1	0.669028978	0.002082495	Ubiquitin proteasome system protein	BrainSpLMD|6184;Eurexp|euxassay_003116|chondrocranium	OMIM|180470;COSMIC||AML
Microglia	GIT2	1.148233776	0.002133868	GTPase activating protein	BrainSpLMD|9815	OMIM|608564
Microglia	DDX5	0.389909677	0.002181792	RNA binding protein	BrainSpLMD|1655;BrainSpMouseDev|12987	OMIM|180630;COSMIC||prostate
Microglia	BACH1	0.496991298	0.002188998	Transcription regulatory protein	BrainSpLMD|571;BrainSpMouseDev|11799	OMIM|602751
Microglia	TRAPPC4	0.540623736	0.002272853	Transport/cargo protein	BrainSpLMD|51399;Eurexp|euxassay_002113|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, molar, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|610971
Microglia	SDCBP	0.402959473	0.002284322	Adapter molecule	BrainSpLMD|6386;Eurexp|euxassay_008333|naris, olfactory, respiratory	OMIM|602217
Microglia	DENND4A	1.05748731	0.002307626	Transcription factor	BrainSpLMD|10260	OMIM|600382
Microglia	ANKRD44	0.660002814	0.002348409	Unclassified	BrainSpLMD|91526	
Microglia	KDM6B	1.345883897	0.002429725	Unclassified	BrainSpLMD|23135	SFARI||Autism, 3 - Suggestive evidence;OMIM|611577
Microglia	ZNF148	0.285927439	0.002639783	Transcription factor	BrainSpLMD|7707	OMIM|601897;HPO|7707|Abnormality of the pinna, Agenesis of corpus callosum, Autosomal dominant inheritance, Coarctation of aorta, Coarse facial features, Downslanted palpebral fissures, Epicanthus, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, Hypermetropia, Hypoplasia of the corpus callosum, Intellectual disability, Low hanging columella, Microcephaly, Mitral stenosis, Patent ductus arteriosus, Pes planus, Phenotypic variability, Pointed chin, Poor speech, Renal cyst, Renal dysplasia, Respiratory insufficiency, Short palpebral fissure, Short stature, Smooth philtrum, Talipes equinovarus, Telecanthus, Triangular face, Upslanted palpebral fissure, Ventriculomegaly, Wide mouth
Microglia	GPR137B	1.446541267	0.002650116	G protein coupled receptor	BrainSpLMD|7107;Eurexp|euxassay_002728|lens, mandible, maxilla	OMIM|604658
Microglia	CEBPZOS	1.011615065	0.002654603			
Microglia	GLS	1.108156196	0.002699197	Enzyme: Deaminase	BrainSpLMD|2744;BrainSpMouseDev|14436	OMIM|138280
Microglia	CBFB	0.48339563	0.002738781	Transcription factor	BrainSpLMD|865	OMIM|121360;COSMIC||AML
Microglia	EXOC6	0.737843714	0.002787765	Membrane transport protein	BrainSpLMD|54536;Eurexp|euxassay_001597|bladder, diencephalon, dorsal root ganglion, hindbrain, lobe, mantle layer, marginal layer, midbrain, spinal cord, thymus primordium, tongue, trigeminal V, vagus X	SFARI||Autism, No category;OMIM|609672
Microglia	BAG1	1.707727434	0.002795338	Transcription factor	BrainSpLMD|573;Eurexp|euxassay_010687|nasal septum, turbinate bones	OMIM|601497
Microglia	MT.ND1	0.535593035	0.002835123			
Microglia	PDE4B	0.751499167	0.002924891	Enzyme: Phosphodiesterase	BrainSpLMD|5142;Eurexp|euxassay_018064|cochlea, mantle layer, utricle	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600127
Microglia	TCEAL4	0.293050553	0.002928514	Unclassified	BrainSpLMD|79921	
Microglia	PTP4A2	0.691287324	0.003097601	Tyrosine phosphatase	BrainSpLMD|8073;Eurexp|euxassay_007473|embryo	OMIM|601584
Microglia	NCKAP5	1.215613149	0.0031104	Unclassified	BrainSpLMD|344148;Eurexp|euxassay_016857|brain, cochlea, epithelium, left lung, otic capsule, retina, right lung, spinal cord	SFARI||Autism, 4 - Minimal evidence;OMIM|608789
Microglia	CPEB4	0.732937895	0.003179927	RNA binding protein	BrainSpLMD|80315	OMIM|610607
Microglia	PEAK1	0.66940793	0.003201923	Tyrosine kinase		OMIM|614248
Microglia	TAF1D	1.536755851	0.003313662	Unclassified	BrainSpLMD|79101	OMIM|612823
Microglia	COPE	1.332106537	0.003317795	Transport/cargo protein	BrainSpLMD|11316	OMIM|606942
Microglia	RPL36AL	0.696479905	0.003443857	Ribosomal subunit	BrainSpLMD|6166	OMIM|180469
Microglia	C17orf62	1.287207809	0.003734354	Unclassified	BrainSpLMD|79415	
Microglia	RP11.488L18.10	0.703782318	0.003746968			
Microglia	CAPNS1	0.740852594	0.003759066	Regulatory/other subunit	BrainSpLMD|826;Eurexp|euxassay_007147|mantle layer, nucleus pulposus, ventral grey horn	OMIM|114170
Microglia	USPL1	0.948048542	0.00378813	Unclassified	BrainSpLMD|10208	OMIM|617470
Microglia	SETX	0.839655508	0.00381537	DNA helicase	BrainSpLMD|23064	OMIM|608465;HPO|23064|Abnormal lower motor neuron morphology, Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Amyotrophic lateral sclerosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Axonal degeneration, Babinski sign, Decreased motor nerve conduction velocity, Degeneration of anterior horn cells, Difficulty walking, Diffuse axonal swelling, Distal muscle weakness, Elevated serum creatine phosphokinase, Gaze-evoked nystagmus, Hyperreflexia, Impaired distal vibration sensation, Increased antibody level in blood, Limb ataxia, Pallor of dorsal columns of the spinal cord, Pes cavus, Polyneuropathy, Pontocerebellar atrophy, Progressive, Progressive gait ataxia, Saccadic smooth pursuit, Slow progression, Variable expressivity
Microglia	ZNF7	0.495399018	0.003931575	DNA binding protein	BrainSpLMD|7553;Eurexp|euxassay_004422|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, epithelium, glossopharyngeal IX, lung, metanephros, midgut, molar, olfactory, rectum, respiratory, spinal cord, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trachea, trigeminal V, vestibulocochlear VIII	OMIM|194531
Microglia	SMYD3	0.528939395	0.004033357	Enzyme: Methyltransferase	BrainSpLMD|64754	OMIM|608783
Microglia	THUMPD3.AS1	0.917599309	0.004091605			
Microglia	HIAT1	0.884421405	0.00417242			
Microglia	YTHDF3	0.62826892	0.004199126	Unclassified	BrainSpLMD|253943	
Microglia	RPL36A	1.521147126	0.004230619	Ribosomal subunit		OMIM|300902
Microglia	RPN2	0.770586671	0.004434559	Enzyme: Glycosyltransferase	BrainSpLMD|6185;Eurexp|euxassay_018263|embryo	OMIM|180490
Microglia	RAB1A	0.50965913	0.004475604	GTPase	BrainSpLMD|5861	OMIM|179508
Microglia	LDLR	1.366269361	0.004599999	Cell surface receptor	BrainSpLMD|3949;Eurexp|euxassay_010458|adrenal gland, cervical, cervico-thoracic, clavicle, hindgut, incisor, mandible, maxilla, metanephros, midgut, orbito-sphenoid, otic capsule, rib, submandibular gland primordium, thoracic, turbinate, ventral grey horn	OMIM|606945;HPO|3949|Abnormality of internal carotid artery, Angina pectoris, Aortic atherosclerosis, Autosomal dominant inheritance, Cerebral artery atherosclerosis, Corneal arcus, Coronary atherosclerosis, Dyspnea, Heart murmur, Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia, Hypertension, Increased circulating low-density lipoprotein levels, Left ventricular failure, Myocardial infarction, Myocardial steatosis, Peripheral arterial stenosis, Precocious atherosclerosis, Premature arteriosclerosis, Premature coronary artery disease, Renal artery stenosis, Sudden cardiac death, Xanthelasma
Microglia	ATP2B1	0.697987973	0.004680454	ATPase	BrainSpLMD|490	OMIM|108731
Microglia	MRPL14	0.797831377	0.004700185	Ribosomal subunit	BrainSpLMD|64928	OMIM|611827
Microglia	ATP2A2	0.905002994	0.00507321	Membrane transport protein	BrainSpLMD|488	OMIM|108740;HPO|488|Abnormality of the hair, Acrokeratosis, Anal mucosal leukoplakia, Autosomal dominant inheritance, Bipolar affective disorder, Enlargement of parotid gland, Epidermal acanthosis, Hyperkeratosis, Hypermelanotic macule, Intellectual disability, mild, Palmar pits, Palmoplantar keratoderma, Plantar pits, Pruritus, Ridged nail, Schizophrenia, Seizures, Subungual hyperkeratotic fragments
Microglia	PPIB	0.942164762	0.00516992	Chaperone	BrainSpLMD|5479;Eurexp|euxassay_000530|basioccipital bone, basisphenoid bone, cranium, nucleus pulposus, orbito-sphenoid, otic capsule, rib, sphenoid	OMIM|123841;HPO|5479|Autosomal recessive inheritance, Blue sclerae, Bowing of limbs due to multiple fractures, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Kyphosis, Multiple prenatal fractures, Pectus carinatum, Pectus excavatum, Recurrent fractures, Scoliosis, Wormian bones
Microglia	TOB2	0.977115639	0.005216292	Cell cycle control protein	BrainSpLMD|10766;Eurexp|euxassay_002023|Meckel's cartilage, orbito-sphenoid	OMIM|607396
Microglia	TPI1	0.91144039	0.005438275	Enzyme: Isomerase	BrainSpLMD|7167	OMIM|190450;HPO|7167|Abnormality of immune system physiology, Autosomal recessive inheritance, Central nervous system degeneration, Cholecystitis, Cholelithiasis, Chronic hemolytic anemia, Congestive heart failure, Diaphragmatic paralysis, Dystonia, Generalized hypotonia, Global developmental delay, Hemolytic anemia, Hyporeflexia, Jaundice, Kyphosis, Muscular hypotonia, Myopathy, Normochromic anemia, Normocytic anemia, Peripheral neuropathy, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Splenomegaly, Tremor, Unsteady gait
Microglia	CTB.79E8.3	0.318985293	0.00547083			
Microglia	UBE2D3	0.543421088	0.005523267	Ubiquitin proteasome system protein	BrainSpLMD|7323;Eurexp|euxassay_006830|embryo	OMIM|602963
Microglia	MSL2	0.458614234	0.005713983	Unclassified	BrainSpLMD|55167	OMIM|614802
Microglia	BTBD9	1.447257694	0.005801582	Unclassified	BrainSpLMD|114781	OMIM|611237
Microglia	TIAM1	1.102605095	0.005809879	Guanine nucleotide exchange factor	BrainSpLMD|7074;Eurexp|euxassay_006321|epidermis, incisor, molar, naris, olfactory, submandibular gland primordium, thymus primordium, vibrissa;BrainSpMouseDev|21603	OMIM|600687
Microglia	CDC42	0.262247876	0.005921345	GTPase	BrainSpLMD|998;BrainSpMouseDev|12325	OMIM|116952
Microglia	UBAP2L	1.032344622	0.005942523	Unclassified	BrainSpLMD|9898	OMIM|616472
Microglia	NECAP2	0.669702513	0.005996534	Unclassified	BrainSpLMD|55707	OMIM|611624
Microglia	SLC38A2	0.625516998	0.006224927	Transport/cargo protein	BrainSpLMD|54407;Eurexp|euxassay_019685|adrenal gland, clavicle, incisor, lung, meninges, metanephros, molar, neural retina, phalanx, submandibular gland primordium, turbinate bones, vibrissa	OMIM|605180
Microglia	IST1	0.318702683	0.006285422	Unclassified	BrainSpLMD|9798;Eurexp|euxassay_013623|brain, cornea, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, molar, neural retina, pharyngo-tympanic tube, spinal cord, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|616434
Microglia	RSRP1	0.555013778	0.006370811	Unclassified	BrainSpLMD|57035	
Microglia	OS9	0.910421356	0.006558707	Unclassified	BrainSpLMD|10956;Eurexp|euxassay_003123|Meckel's cartilage, cervical, cervico-thoracic, chondrocranium, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, lobe, molar, orbito-sphenoid, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|609677
Microglia	SNX2	0.304154422	0.006619581	Transport/cargo protein	BrainSpLMD|6643	OMIM|605929
Microglia	SCAF11	0.3695331	0.006687322	RNA binding protein	BrainSpLMD|9169;Eurexp|euxassay_014100|ventricle, ventricular layer	OMIM|603668
Microglia	BCAP31	0.852117033	0.006801555	Transport/cargo protein	BrainSpLMD|10134	OMIM|300398;HPO|10134|Abnormal facial shape, Abnormal pyramidal signs, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Cerebral hypomyelination, Dystonia, Failure to thrive, Global developmental delay, Intellectual disability, Intellectual disability, severe, Microcephaly, Sensorineural hearing impairment, Strabismus, Tetraplegia, X-linked recessive inheritance
Microglia	NFIC	1.219483924	0.006847987	Transcription factor	BrainSpLMD|4782;Eurexp|euxassay_008959|mesenchyme;BrainSpMouseDev|17796	OMIM|600729
Microglia	SKIL	0.510979973	0.006909936	Unclassified	BrainSpLMD|6498	OMIM|165340
Microglia	FGFR1OP2	0.828536617	0.00700588	Unclassified	BrainSpLMD|26127;Eurexp|euxassay_012453|thymus primordium	OMIM|608858
Microglia	NDUFB6	0.484021563	0.007409802	Regulatory/other subunit	BrainSpLMD|4712	OMIM|603322
Microglia	ARL8B	0.286103312	0.007440728	GTPase	BrainSpLMD|55207	OMIM|616596
Microglia	EIF1	0.492749351	0.007597232	Translation regulatory protein	BrainSpLMD|10209	
Microglia	ARL5A	0.976894973	0.007738285	GTPase	Eurexp|euxassay_002854|basal plate, cochlear component, dorsal root ganglion, facial VII, glossopharyngeal IX, inferior, lobe, superior, trigeminal V, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|608960
Microglia	SLC44A2	1.426386146	0.007990142	Integral membrane protein	BrainSpLMD|57153	OMIM|606106
Microglia	PPIL4	0.658180457	0.00815265	Chaperone	BrainSpLMD|85313	OMIM|607609
Microglia	BCL2L13	0.762327492	0.008178191	Integral membrane protein	BrainSpLMD|23786	
Microglia	RPL35	0.311899369	0.00830488	Ribosomal subunit	BrainSpLMD|11224	
Microglia	LPP	0.794487618	0.008494895	Unclassified	BrainSpLMD|4026	OMIM|600700;COSMIC||lipoma, leukaemia
Microglia	ABCF1	0.631843381	0.008760532	Translation regulatory protein	BrainSpLMD|23;Eurexp|euxassay_007589|embryo	OMIM|603429
Microglia	NFX1	0.392676854	0.008918001	Transcription regulatory protein	BrainSpLMD|4799	OMIM|603255
Microglia	EP300	0.470825845	0.008973143	Transcription regulatory protein	BrainSpLMD|2033;BrainSpMouseDev|108486	SFARI||Autism, 4 - Minimal evidence;OMIM|602700;COSMIC||colorectal, breast, pancreatic, AML, ALL, DLBCL;HPO|2033|Abnormal number of teeth, Abnormality of refraction, Abnormality of the cervical spine, Abnormality of the cornea, Abnormality of the kidney, Abnormality of the pinna, Aganglionic megacolon, Agenesis of corpus callosum, Agoraphobia, Arrhythmia, Atrial septal defect, Autism, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Bifid uterus, Bimanual synkinesia, Broad hallux, Broad thumb, Cafe-au-lait spot, Capillary hemangiomas, Carious teeth, Cataract, Chorioretinal dystrophy, Clinodactyly of the 5th finger, Coloboma, Congenital onset, Constipation, Convex nasal ridge, Cryptorchidism, Deeply set eye, Delayed cranial suture closure, Delayed gross motor development, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Dental malocclusion, Deviated nasal septum, Dislocated radial head, Downslanted palpebral fissures, Duane anomaly, Duplication of phalanx of hallux, EEG abnormality, Epicanthus, Facial grimacing, Failure to thrive, Feeding difficulties in infancy, Flared iliac wings, Flexion contracture, Frontal bossing, Frontal upsweep of hair, Generalized hypotonia, Glaucoma, Global developmental delay, Hearing impairment, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, High axial triradius, High palate, Highly arched eyebrow, Hirsutism, Hyperactivity, Hyperreflexia, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Hypoplastic iliac wing, Hypospadias, Impulsivity, Intellectual disability, Intellectual disability, mild, Joint hypermobility, Joint laxity, Keloids, Large foramen magnum, Laryngomalacia, Long eyelashes, Low anterior hairline, Low hanging columella, Low posterior hairline, Low-set ears, Microcephaly, Micrognathia, Muscular hypotonia, Narrow mouth, Narrow palate, Nasolacrimal duct obstruction, Neoplasm of the stomach, Obstructive sleep apnea, Overbite, Papillary cystadenoma of the epididymis, Parietal foramina, Patellar dislocation, Patent ductus arteriosus, Pectus excavatum, Pes planus, Phonophobia, Plantar crease between first and second toes, Polydactyly, Polyhydramnios, Poor coordination, Posterior helix pit, Postnatal growth retardation, Premature thelarche, Prominent fingertip pads, Prominent nose, Proptosis, Ptosis, Radial deviation of thumb terminal phalanx, Recurrent upper respiratory tract infections, Renal cell carcinoma, Respiratory distress, Retrognathia, Scoliosis, Seizures, Self-mutilation, Shawl scrotum, Short attention span, Short stature, Single transverse palmar crease, Spina bifida occulta, Sporadic, Stereotypy, Strabismus, Syndactyly, Talon cusp, Tethered cord, Thick eyebrow, Transitional cell carcinoma of the bladder, Truncal obesity, Unsteady gait, Uterine leiomyosarcoma, Variable expressivity, Vascular ring, Ventricular septal defect, Wide anterior fontanel, Wide nasal bridge
Microglia	EEF2	0.316796614	0.009063627	Translation regulatory protein	BrainSpLMD|1938	OMIM|130610;HPO|1938|Adult onset, Autosomal dominant inheritance, Cerebellar atrophy, Dysarthria, Dysmetric saccades, Gait ataxia, Impaired horizontal smooth pursuit, Incoordination, Limb ataxia, Nystagmus, Slow progression, Truncal ataxia
Microglia	CARD8	0.661344764	0.009920243	Adapter molecule	BrainSpLMD|22900	OMIM|609051
Microglia	FLOT1	0.561364075	0.009956723	Unclassified	BrainSpLMD|10211;Eurexp|euxassay_000221|dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, olfactory, respiratory, trigeminal V, vagus X, ventral grey horn	OMIM|606998
U3	TWIST1	4.283585128	0	Transcription factor	BrainSpLMD|7291;Eurexp|euxassay_005335|valve;BrainSpMouseDev|21917	OMIM|601622;HPO|7291|Abnormal heart morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the nasolacrimal system, Absent first metatarsal, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharospasm, Brachycephaly, Brachydactyly, Breast carcinoma, Broad forehead, Broad hallux, Buphthalmos, Cleft of chin, Cleft palate, Clinodactyly of the 5th finger, Convex nasal ridge, Coronal craniosynostosis, Craniosynostosis, Delayed cranial suture closure, Depressed nasal bridge, Dolichocephaly, Duplication of phalanx of hallux, External ear malformation, Facial asymmetry, Finger syndactyly, Flat face, Flat forehead, Frontal bossing, Hallux valgus, Hearing impairment, High forehead, Hyperlordosis, Hypertelorism, Hypoplasia of the maxilla, Increased intracranial pressure, Intellectual disability, moderate, Lambdoidal craniosynostosis, Long nose, Low anterior hairline, Low-set ears, Malar flattening, Microtia, Narrow internal auditory canal, Narrow nose, Narrow palate, Open bite, Oxycephaly, Parietal foramina, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of the distal phalanx of the 3rd finger, Plagiocephaly, Prominent crus of helix, Prominent nasal bridge, Proptosis, Ptosis, Radioulnar synostosis, Scaphocephaly, Shallow orbits, Short stature, Skull asymmetry, Strabismus, Toe syndactyly, Turricephaly, Underdeveloped supraorbital ridges, Variable expressivity, Visual field defect
U3	B3GNT7	4.263913626	0	Enzyme: Galactosyltransferase	BrainSpLMD|93010	OMIM|615313
U3	AHSA1	3.82956863	0	Unclassified	BrainSpLMD|10598	OMIM|608466
U3	COPRS	3.658314716	0	Unclassified	BrainSpLMD|55352	
U3	MT.TL1	3.556584003	0			
U3	SLC35F6	3.536938363	0	Unclassified	BrainSpLMD|54978	
U3	MSX1	3.525615635	0	Transcription regulatory protein	BrainSpLMD|4487;BrainSpMouseDev|17468	OMIM|142983;HPO|4487|Agenesis of permanent teeth, Autosomal dominant inheritance, Cleft palate, Cleft upper lip, Concave nail, Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Fine hair, Fragile nails, Hypodontia, Hypoplasia of the maxilla, Hypoplastic fingernail, Hypoplastic toenails, Microdontia, Microdontia of primary teeth, Micrognathia, Nail pits, Oligodontia, Ridged fingernail, Ridged nail, Small nail, Sparse hair, Thin toenail
U3	AVPI1	3.46849351	0	Unclassified	BrainSpLMD|60370;Eurexp|euxassay_006788|basisphenoid bone, cartilaginous ring, clavicle, left lung, mandible, maxilla, medulla, orbito-sphenoid, pharynx, rib, right lung, stomach	
U3	RPL4P4	3.278418168	0			
U3	PIGL	3.13008821	0	Enzyme: Deacetylase	BrainSpLMD|9487	OMIM|605947;HPO|9487|Acute lymphoblastic leukemia, Autosomal recessive inheritance, Brachycephaly, Broad-based gait, Cerebral atrophy, Cleft palate, Clinodactyly of the 5th finger, Conductive hearing impairment, Depressed nasal bridge, Duplicated collecting system, Epicanthus, Fine hair, Frontal bossing, Generalized hypotonia, Hydronephrosis, Hypertelorism, Hypoplastic nipples, Intellectual disability, Joint contracture of the hand, Large for gestational age, Large hands, Long foot, Low-set nipples, Overfolded helix, Palmoplantar hyperkeratosis, Peripheral pulmonary artery stenosis, Prominent forehead, Retinal coloboma, Seizures, Short philtrum, Sparse hair, Tetralogy of Fallot, Thick lower lip vermilion, Transposition of the great arteries, Ureteropelvic junction obstruction, Ventricular septal defect, Violent behavior, Webbed neck, Wide mouth, Wide nasal bridge, Widely spaced teeth
U3	GSTM5	3.093257405	0	Enzyme: Glutathione transferase	BrainSpLMD|2949;Eurexp|euxassay_018918|foregut-midgut junction, liver, lobe, midgut, nucleus pulposus, olfactory, pancreas, renal/urinary system, stomach, testis, thymus primordium, ventral grey horn, ventricular layer	OMIM|138385
U3	NFIL3	3.005804445	0	Transcription factor	BrainSpLMD|4783;Eurexp|euxassay_002657|diencephalon, dorsal root ganglion, hindbrain, mantle layer, marginal layer, midbrain, pharyngo-tympanic tube, spinal cord, vibrissa;BrainSpMouseDev|17797	OMIM|605327
U3	EYA3	3.003104928	0	Tyrosine phosphatase	BrainSpLMD|2140	OMIM|601655
U3	EFNA5	3.001251144	0	Ligand	BrainSpLMD|1946;BrainSpMouseDev|13418	OMIM|601535
U3	SLC25A33	2.982296142	0	Unclassified	BrainSpLMD|84275	OMIM|610816
U3	LIX1	2.95014096	0	Unclassified	BrainSpLMD|167410	OMIM|610466
U3	FBLIM1	2.922617357	0	Cytoskeletal associated protein	BrainSpLMD|54751	OMIM|607747
U3	RORA	2.922171409	0	Nuclear receptor	BrainSpLMD|6095;Eurexp|euxassay_018175|anterior, dorsal grey horn, external, mantle layer, medulla, thymus primordium, vibrissa;BrainSpMouseDev|19646	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600825
U3	RP11.504P24.8	2.888558696	0			
U3	TGFBI	2.858066735	0	Ligand	BrainSpLMD|7045;Eurexp|euxassay_011706|associated mesenchyme, axial skeleton, basioccipital bone, basisphenoid bone, capsule, cartilaginous ring, clavicle, femur, fibula, head mesenchyme, humerus, inner ear, left lung, metatarsus, midgut, naris, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, rectum, renal/urinary system, rib, right lung, scapula, skeletal muscle, sternum, stomach, tarsus, tibia, trigeminal V, turbinate bones, valve, vault of skull, ventricle, vibrissa	OMIM|601692;HPO|7045|Autosomal dominant inheritance, Cataract, Corneal dystrophy, Corneal erosion, Corneal scarring, Granular corneal dystrophy, Juvenile epithelial corneal dystrophy, Lattice corneal dystrophy, Map-dot-fingerprint corneal dystrophy, Nodular corneal dystrophy, Opacification of the corneal stroma, Photophobia, Progressive visual loss, Punctate corneal dystrophy, Recurrent corneal erosions, Reduced visual acuity, Strabismus, Visual impairment
U3	ELF1	2.827967918	0	Transcription factor	BrainSpLMD|1997;Eurexp|euxassay_019460|bladder, epidermis, epithelium, hindgut, incisor, larynx, liver, lung, metanephros, midgut, oesophagus, olfactory, oral epithelium, pancreas, pharyngo-tympanic tube, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, vibrissa;BrainSpMouseDev|13487	OMIM|189973
U3	ZNF426	2.816715835	0	DNA binding protein	BrainSpLMD|79088	
U3	PON2	2.758380509	0	Enzyme: Esterase	BrainSpLMD|5445	OMIM|602447;HPO|5445|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
U3	MTRR	2.712697401	0	Enzyme: Oxidoreductase	BrainSpLMD|4552	OMIM|602568;HPO|4552|Anemia, Autosomal recessive inheritance, Cerebral atrophy, Cerebral cortical atrophy, Decreased methionine synthase activity, Decreased methylcobalamin, Decreased nerve conduction velocity, Failure to thrive, Gait disturbance, Generalized hypotonia, Global developmental delay, Homocystinuria, Hyperhomocystinemia, Hypomethioninemia, Infantile onset, Intellectual disability, progressive, Lethargy, Megaloblastic anemia, Muscular hypotonia, Nystagmus, Respiratory insufficiency, Seizures
U3	ANP32B	2.684613839	0	Unclassified	BrainSpLMD|10541;Eurexp|euxassay_006714|embryo	
U3	PPIEL	2.679285979	0			
U3	DIS3L	2.663591476	0	Unclassified	BrainSpLMD|115752	OMIM|614183
U3	RFX2	2.634466953	0	DNA binding protein	BrainSpLMD|5990;Eurexp|euxassay_019670|floorplate, lobe, olfactory, ventricular layer;BrainSpMouseDev|19488	OMIM|142765
U3	SRRT	2.585939359	0	Unclassified	BrainSpLMD|51593	OMIM|614469
U3	MRPL10	2.579892804	0	RNA binding protein	BrainSpLMD|124995	OMIM|611825
U3	ZPR1	2.566346005	0	Adapter molecule	BrainSpLMD|8882;Eurexp|euxassay_009271|embryo	OMIM|603901
U3	ZNF521	2.553433567	0	Transcription regulatory protein	BrainSpLMD|25925;BrainSpMouseDev|86218	OMIM|610974;COSMIC||ALL
U3	LINC01138	2.552877035	0		BrainSpLMD|388685	
U3	FRMD6	2.550944712	0	Unclassified	BrainSpLMD|122786;Eurexp|euxassay_002791|basal plate, lung, submandibular gland primordium, thymus primordium, vibrissa	OMIM|614555
U3	ALCAM	2.550810284	0	Adhesion molecule	BrainSpLMD|214;Eurexp|euxassay_003463|bladder, dorsal root ganglion, epithelium, extrinsic ocular muscle, lung, mantle layer, mesenchyme, nucleus pulposus, saccule, stomach, submandibular gland primordium, trachea, urethra, ventricular layer, vibrissa;BrainSpMouseDev|11445	OMIM|601662
U3	ETV6	2.537905521	0	Transcription factor	BrainSpLMD|2120;Eurexp|euxassay_012303|incisor, molar, olfactory, parotid, submandibular gland primordium, thymus primordium, thyroid;BrainSpMouseDev|13788	OMIM|600618;COSMIC||congenital fibrosarcoma, multiple different leukaemia and lymphoma tumour types including ALL, secretory breast, MDS;HPO|2120|Autosomal dominant inheritance, Bruising susceptibility, Epistaxis, Petechiae, Thrombocytopenia
U3	GOLIM4	2.536344159	0	Integral membrane protein	BrainSpLMD|27333	OMIM|606805
U3	SRPRB	2.515974085	0	GTPase	BrainSpLMD|58477;Eurexp|euxassay_010365|basioccipital bone, clavicle, femur, humerus, mandible, maxilla, naris, orbito-sphenoid, rib, sternum, tibia, turbinate bones	OMIM|616883
U3	EIF1AD	2.515724966	0	Unclassified	BrainSpLMD|84285	
U3	EEF2	2.468504558	0	Translation regulatory protein	BrainSpLMD|1938	OMIM|130610;HPO|1938|Adult onset, Autosomal dominant inheritance, Cerebellar atrophy, Dysarthria, Dysmetric saccades, Gait ataxia, Impaired horizontal smooth pursuit, Incoordination, Limb ataxia, Nystagmus, Slow progression, Truncal ataxia
U3	RBMS2	2.453571586	0	RNA binding protein	BrainSpLMD|5939	OMIM|602387
U3	THUMPD3	2.445790027	0	Unclassified	BrainSpLMD|25917;Eurexp|euxassay_000043|chondrocranium, exoccipital bone, facial bones primordia, mandible, optic foramen, otic capsule	
U3	MKL1	2.437392793	0	Transcription factor	BrainSpLMD|57591	OMIM|606078;COSMIC||acute megakaryocytic leukaemia
U3	TCEAL1	2.421636511	0	Transcription regulatory protein	BrainSpLMD|9338;Eurexp|euxassay_006652|skeletal muscle	OMIM|300237
U3	CTBP1	2.412797574	0	Transcription regulatory protein	BrainSpLMD|1487	OMIM|602618;HPO|1487|Abnormal form of the vertebral bodies, Abnormal sternal ossification, Abnormality of the pinna, Absent septum pellucidum, Accessory spleen, Autosomal dominant inheritance, Cavum septum pellucidum, Cleft palate, Cleft upper lip, Convex nasal ridge, Craniofacial asymmetry, Decreased fetal movement, Decreased muscle mass, Delayed skeletal maturation, Downturned corners of mouth, Ectopia pupillae, Epicanthus, Failure to thrive, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hemangioma, High forehead, Highly arched eyebrow, Hip dislocation, Hyperconvex fingernails, Hypertelorism, Hypodontia, Intellectual disability, severe, Intrauterine growth retardation, Kyphosis, Low posterior hairline, Malrotation of small bowel, Metatarsus adductus, Microcephaly, Micrognathia, Nystagmus, Periventricular cysts, Preauricular pit, Preauricular skin tag, Precocious puberty, Prominent glabella, Proptosis, Pseudoepiphyses of the metacarpals, Ptosis, Radioulnar synostosis, Rib fusion, Rib segmentation abnormalities, Rieger anomaly, Scoliosis, Seizures, Severe postnatal growth retardation, Short philtrum, Short stature, Short upper lip, Small for gestational age, Sporadic, Stenosis of the external auditory canal, Stereotypy, Strabismus, Talipes equinovarus, Ventricular septal defect, Ventriculomegaly, Vertebral fusion, Wide nasal bridge
U3	PDRG1	2.406265575	0	Transcription regulatory protein	BrainSpLMD|81572	OMIM|610789
U3	PSMD12	2.366214722	0	Ubiquitin proteasome system protein	BrainSpLMD|5718;Eurexp|euxassay_003452|adenohypophysis, adrenal gland, bladder, central nervous system, cervical, cervico-thoracic, dorsal root ganglion, epidermis, epithelium, glossopharyngeal IX, heart, hindlimb, incisor, larynx, limb, liver, lung, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, pancreas, penis, pharyngo-tympanic tube, respiratory, rib, stomach, stroma, submandibular gland primordium, thoracic, thymus primordium, tongue, trigeminal V, vagus X, vertebral axis muscle system, vibrissa	SFARI||Autism, No category;OMIM|604450
U3	SLC25A37	2.365722917	0	Transport/cargo protein	BrainSpLMD|51312;Eurexp|euxassay_007768|liver, mesenchyme	OMIM|610387
U3	PIP4K2A	2.361096004	0	Lipid Kinase	BrainSpLMD|5305;Eurexp|euxassay_018594|basal plate, dorsal root ganglion, foregut-midgut junction, head mesenchyme, hindgut, incisor, lobe, loop, lumen, mantle layer, medullary stroma, mesenchyme, midgut, olfactory, rectum, stomach, testis, thymus primordium, ventral grey horn, vertebral axis muscle system, vomeronasal organ	OMIM|603140
U3	SMARCAL1	2.354788822	0	Transcription regulatory protein	BrainSpLMD|50485	OMIM|606622;HPO|50485|Abnormal T cell morphology, Abnormal immunoglobulin level, Abnormality of epiphysis morphology, Anemia, Arteriosclerosis, Astigmatism, Autosomal recessive inheritance, Bulbous nose, Cellular immunodeficiency, Coarse hair, Depressed nasal bridge, Disproportionate short-trunk short stature, Fine hair, Focal segmental glomerulosclerosis, Glomerulopathy, High pitched voice, Hip dislocation, Hyperlordosis, Hypermelanotic macule, Hypertension, Hypoplasia of the capital femoral epiphysis, Increased thyroid-stimulating hormone level, Intrauterine growth retardation, Lateral displacement of the femoral head, Lumbar hyperlordosis, Lymphopenia, Melanocytic nevus, Microdontia, Motor delay, Multiple cafe-au-lait spots, Myopia, Nephrotic syndrome, Neutropenia, Opacification of the corneal stroma, Osteopenia, Ovoid vertebral bodies, Platyspondyly, Proteinuria, Protuberant abdomen, Recurrent infections, Renal insufficiency, Shallow acetabular fossae, Short neck, Spondyloepiphyseal dysplasia, Thoracic kyphosis, Thrombocytopenia, Transient ischemic attack, Waddling gait
U3	AP000487.5	2.353978962	0			
U3	TRIM59	2.338363231	0	Ubiquitin proteasome system protein		OMIM|616148
U3	ZNF583	2.312832196	0	Transcription regulatory protein	BrainSpLMD|147949	
U3	EAF1	2.31258139	0	Transcription regulatory protein	BrainSpLMD|85403;Eurexp|euxassay_017241|olfactory	OMIM|608315
U3	LIN52	2.312015081	0	Unclassified		
U3	ARNT	2.289807453	0	Transcription factor	BrainSpLMD|405;BrainSpMouseDev|11650	OMIM|126110;COSMIC||AML
U3	STK4	2.284968837	0	Serine/threonine kinase	BrainSpLMD|6789	OMIM|604965;HPO|6789|Atrial septal defect, Autosomal recessive inheritance, Immunodeficiency, Lymphopenia, Neutropenia, Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Verrucae
U3	METTL17	2.281541568	0	Unclassified	BrainSpLMD|64745	OMIM|616091
U3	SEMA5A	2.278817629	0	Unclassified	BrainSpLMD|9037;BrainSpMouseDev|20119	SFARI||Autism, 3 - Suggestive evidence;OMIM|609297;HPO|9037|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
U3	RPL41	2.274801233	0	Unclassified	BrainSpLMD|6171	OMIM|613315
U3	SERPINB6	2.257431999	0	Protease inhibitor	BrainSpLMD|5269;Eurexp|euxassay_012500|adrenal gland, aorta, diaphragm, dorsal root ganglion, epithelium, eyelid, facial VII, glossopharyngeal IX, hindgut, incisor, left lung, mantle layer, mesenchyme, midgut, naris, naso-lacrimal duct, ovary, rectum, right lung, submandibular gland primordium, testis, thymus primordium, trachea, trigeminal V, umbilical artery, vagus X, ventral grey horn	OMIM|173321;HPO|5269|Autosomal recessive inheritance, Progressive hearing impairment
U3	B4GALT1	2.25422919	0	Enzyme: Galactosyltransferase	BrainSpLMD|2683	OMIM|137060;HPO|2683|Abnormality of coagulation, Autosomal recessive inheritance, Dandy-Walker malformation, Elevated serum creatine phosphokinase, Generalized hypotonia, Global developmental delay, Hydrocephalus, Macrocephaly, Muscular hypotonia, Myopathy
U3	IQGAP2	2.253898194	0	GTPase activating protein	BrainSpLMD|10788;Eurexp|euxassay_013405|adrenal gland, incisor, intervertebral disc, lobe, mandible, mesenchyme, metanephros, midgut, oesophagus, skeletal muscle, stomach, thymus primordium, ventricular layer, vertebral axis muscle system, vertebral cartilage condensation	OMIM|605401
U3	MZT2B	2.248057073	0	Unclassified	BrainSpLMD|80097	OMIM|613450
U3	SKIDA1	2.21862917	0	Unclassified	BrainSpLMD|387640;Eurexp|euxassay_003843|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	
U3	PARD6B	2.187976912	0	Adapter molecule	BrainSpLMD|84612	OMIM|608975
U3	RP1.278E11.3	2.164599817	0			
U3	PDGFA	2.160578969	0	Growth factor	Eurexp|euxassay_004036|anterior, axial skeleton, calyces, choroid invagination, choroid plexus, conjunctival sac, diaphragm, epidermis, epithelium, external, footplate, handplate, incisor, left lung, midgut, molar, naso-lacrimal duct, olfactory, oral epithelium, orbito-sphenoid, paraxial mesenchyme, pharyngo-tympanic tube, posterior, primitive seminiferous tubules, rest of mesenchyme, right lung, roof plate, skeletal muscle, stomach, submandibular gland primordium, thymus primordium, trachea, urethra, vertebral axis muscle system, vibrissa, vomeronasal organ;BrainSpMouseDev|18356	OMIM|173430
U3	CCNDBP1	2.15405164	0	Unclassified	BrainSpLMD|23582	OMIM|607089
U3	AL133243.2	2.14825373	0			
U3	UBAP1	2.14403274	0	Unclassified	BrainSpLMD|51271	OMIM|609787
U3	HIP1	2.138325808	0	Structural protein	BrainSpLMD|3092	OMIM|601767;COSMIC||CMML, NSCLC
U3	NFRKB	2.132485043	0	Transcription factor	BrainSpLMD|4798;Eurexp|euxassay_019503|dorsal root ganglion, facial VII, glossopharyngeal IX, lung, metanephros, olfactory, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|164013
U3	APOPT1	2.125140349	0	Unclassified	BrainSpLMD|84334	OMIM|616003;HPO|84334|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
U3	SLC35B1	2.105161585	0	Membrane transport protein	BrainSpLMD|10237;Eurexp|euxassay_005005|clavicle, incisor, mandible, maxilla, orbito-sphenoid, rib, submandibular gland primordium	SFARI||Autism, 3 - Suggestive evidence;OMIM|610790
U3	NUP54	2.101128419	0	Transport/cargo protein	BrainSpLMD|53371	OMIM|607607
U3	NECAP2	2.087763206	0	Unclassified	BrainSpLMD|55707	OMIM|611624
U3	CMB9.94B1.1	2.067871871	0			
U3	ZNF136	2.065573306	0	DNA binding protein	BrainSpLMD|7695	OMIM|604078
U3	TGIF2	2.053098217	0	Transcription factor	BrainSpLMD|60436;Eurexp|euxassay_019508|axial skeleton, cornea, epithelium, incisor, lung, marginal layer, metanephros, molar, neural retina, oesophagus, olfactory, phalanx, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|86790	OMIM|607294
U3	DSTYK	2.046159364	0	Dual specificity kinase	BrainSpLMD|25778;Eurexp|euxassay_009666|corpus striatum	OMIM|612666;HPO|25778|Autosomal recessive inheritance, Babinski sign, Cognitive impairment, Hyperpigmentation in sun-exposed areas, Hyperreflexia, Lower limb muscle weakness, Microcephaly, Micrognathia, Narrow face, Premature graying of body hair, Retrognathia, Spastic paraplegia, Vitiligo
U3	PSMG3	2.040922847	0	Unclassified	BrainSpLMD|84262	OMIM|617528
U3	MTRNR2L10	2.024216707	0			
U3	PROM1	2.017200803	0	Integral membrane protein	BrainSpLMD|8842;BrainSpMouseDev|18889	OMIM|604365;HPO|8842|Abnormal electroretinogram, Abnormality of color vision, Abnormality of macular pigmentation, Abnormality of retinal pigmentation, Abnormality of the choroid, Abnormality of the fovea, Abnormality of the retinal vasculature, Abnormality of the testis, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the macula, Atypical scarring of skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cataract, Central scotoma, Conductive hearing impairment, Cone/cone-rod dystrophy, Dyschromatopsia, Glaucoma, Granular macular appearance, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Macular degeneration, Macular dystrophy, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paroxysmal involuntary eye movements, Perifoveal ring of hyperautofluorescence, Peripheral visual field loss, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Retinal thinning, Rod-cone dystrophy, Sensorineural hearing impairment, Undetectable electroretinogram, Wide nasal bridge, Yellow/white lesions of the macula
U3	RP11.587D21.1	2.006117276	0			
U3	C1orf56	2.004996408	0	Unclassified	BrainSpLMD|54964	
U3	GCC2	1.983772094	0	Structural protein	BrainSpLMD|9648	OMIM|612711
U3	RMI2	1.972583978	0	Unclassified	BrainSpLMD|116028;Eurexp|euxassay_016062|axial skeleton, bladder, rib	OMIM|612426;COSMIC||PMBL, Hodgkin lymphoma
U3	CREB3L4	1.956955034	0	Transcription factor	BrainSpLMD|148327;BrainSpMouseDev|54124	OMIM|607138
U3	SLC48A1	1.950481253	0	Transport/cargo protein	BrainSpLMD|55652	OMIM|612187
U3	TRIM26	1.946501501	0	DNA binding protein	BrainSpLMD|7726	OMIM|600830
U3	THUMPD1	1.933092199	0	Unclassified	BrainSpLMD|55623	OMIM|616662
U3	ATRNL1	1.928182913	0	Integral membrane protein	BrainSpLMD|26033	SFARI||Autism, 5 - Hypothesized but untested;OMIM|612869
U3	ETV3	1.915617646	0	Transcription factor	BrainSpLMD|2117;BrainSpMouseDev|26794	OMIM|164873
U3	C1orf174	1.90891164	0	Unclassified	BrainSpLMD|339448	
U3	DCLRE1C	1.905811487	0	Deoxyribonuclease	BrainSpLMD|64421	OMIM|605988;HPO|64421|Abnormality of lymphocytes, Absent tonsils, Alopecia, Anemia, Aplasia of the thymus, Aplasia/Hypoplasia of the eyebrow, Autosomal recessive inheritance, B lymphocytopenia, Chronic diarrhea, Desquamation of skin soon after birth, Diarrhea, Dry skin, Edema, Eosinophilia, Erythroderma, Failure to thrive, Fever, Genital ulcers, Hepatomegaly, Hypoplasia of the thymus, Hypoproteinemia, Lymph node hypoplasia, Lymphadenopathy, Oral ulcer, Otitis media, Panhypogammaglobulinemia, Phenotypic variability, Pneumonia, Pruritus, Recurrent bacterial infections, Recurrent fungal infections, Recurrent upper respiratory tract infections, Recurrent viral infections, Severe B lymphocytopenia, Severe combined immunodeficiency, Splenomegaly, Thickened skin, Thrombocytopenia
U3	ZNF662	1.905623967	0	DNA binding protein	BrainSpLMD|389114	
U3	COG8	1.87616307	0	Transport/cargo protein	BrainSpLMD|84342	OMIM|606979;HPO|84342|Alternating esotropia, Autosomal recessive inheritance, Cerebellar atrophy, Elevated serum creatine phosphokinase, Elevated serum transaminases during infections, Encephalopathy, Intellectual disability, Muscular hypotonia, Status epilepticus, Ventriculomegaly
U3	CTD.2287O16.1	1.873263154	0			
U3	PRKD1	1.869337466	0	Serine/threonine kinase	BrainSpLMD|5587	SFARI||Autism, No category;OMIM|605435;HPO|5587|Autosomal dominant inheritance, Broad thumb, Delayed speech and language development, Depressed nasal bridge, Dry skin, Feeding difficulties, Fragile nails, Generalized hypotonia, Global developmental delay, Microcephaly, Microdontia, Nystagmus, Premature loss of primary teeth, Prominent forehead, Prominent nasal bridge, Scoliosis, Sparse scalp hair, Syndactyly, Thin skin, Widely spaced teeth
U3	SLC4A1AP	1.861372675	0	Adapter molecule	BrainSpLMD|22950	OMIM|602655
U3	TPM4	1.856131127	0	Cytoskeletal protein		OMIM|600317;COSMIC||ALCL
U3	RPL5P34	1.845097676	0			
U3	TMEM11	1.843844921	0	Integral membrane protein	BrainSpLMD|8834	
U3	POLI	1.843220042	0	DNA polymerase	BrainSpLMD|11201	OMIM|605252
U3	ELMSAN1	1.839644606	0	DNA binding protein	BrainSpLMD|91748	
U3	PSME1	1.837225972	0	Ubiquitin proteasome system protein	BrainSpLMD|5720	OMIM|600654
U3	PAICS	1.834889435	0	Enzyme: Carboxylase	BrainSpLMD|10606;Eurexp|euxassay_018936|marginal layer, nucleus pulposus, submandibular gland primordium, ventricular layer, vibrissa	OMIM|172439
U3	TXLNA	1.8219828	0	Unclassified	BrainSpLMD|200081;Eurexp|euxassay_005956|embryo	OMIM|608676
U3	DNAJA4	1.81330727	0	Unclassified	BrainSpLMD|55466;Eurexp|euxassay_012762|choroid invagination, choroid plexus, liver, roof plate	
U3	TOX4	1.809913071	0	DNA binding protein	BrainSpLMD|9878;Eurexp|euxassay_016419|dorsal root ganglion, glossopharyngeal IX, trigeminal V, ventral grey horn;BrainSpMouseDev|92572	OMIM|614032
U3	TRAM1	1.804502883	0	Membrane transport protein	BrainSpLMD|23471	OMIM|605190
U3	ABCD4	1.801270118	0	Transport/cargo protein	BrainSpLMD|5826;Eurexp|euxassay_012296|mantle layer	OMIM|603214;HPO|5826|Abnormal posturing, Anemia, Autosomal recessive inheritance, Congenital onset, Decreased adenosylcobalamin, Feeding difficulties, Generalized hypotonia, Growth delay, Homocystinuria, Hyperhomocystinemia, Inguinal hernia, Lethargy, Methylmalonic acidemia, Methylmalonic aciduria, Neutropenia, Tachypnea, Thrombocytopenia
U3	RPL23P8	1.78922874	0			
U3	NDUFA9P1	1.783600997	0			
U3	DNAJC3	1.776484542	0	Translation regulatory protein	BrainSpLMD|5611	OMIM|601184;HPO|5611|Atrophy/Degeneration affecting the brainstem, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Sensorineural hearing impairment, Short stature, Type I diabetes mellitus
U3	COLGALT1	1.765725769	0	Unclassified	BrainSpLMD|79709	OMIM|617531
U3	MTRNR2L1	1.749070727	0			OMIM|616985
U3	TTC39C	1.743472274	0	Unclassified	BrainSpLMD|125488;Eurexp|euxassay_007378|anterior, brain, clavicle, dorsal root ganglion, external, facial VII, glossopharyngeal IX, medulla, primitive seminiferous tubules, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	
U3	THAP5	1.730516338	0	DNA binding protein	BrainSpLMD|168451	OMIM|612534
U3	FSTL1	1.729964591	0	Protease inhibitor	Eurexp|euxassay_003685|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail;BrainSpMouseDev|14090	OMIM|605547
U3	CTH	1.72659322	0	Cysteine protease	BrainSpLMD|1491;Eurexp|euxassay_000513|axial skeleton, cranium, head mesenchyme, incisor, oesophagus, otic capsule, turbinate bones	OMIM|607657;HPO|1491|Autosomal recessive inheritance, Cystathioninuria
U3	HADH	1.72398966	0	Enzyme: Dehydrogenase	BrainSpLMD|3033;Eurexp|euxassay_018543|adrenal gland, liver, lung, midgut, orbito-sphenoid, stomach, sublingual gland primordium, testis, thymus primordium, thyroid, trachea, turbinate, ventricular layer	OMIM|601609;HPO|3033|Abnormality of acetylcarnitine metabolism, Autosomal recessive inheritance, Confusion, Decreased activity of 3-hydroxyacyl-CoA dehydrogenase, Diarrhea, Dicarboxylic aciduria, Dilated cardiomyopathy, Elevated hepatic transaminases, Fasting hyperinsulinemia, Feeding difficulties in infancy, Fulminant hepatic failure, Growth delay, Hepatic necrosis, Hepatic steatosis, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, Hypoglycemic coma, Hypoglycemic encephalopathy, Hypoglycemic seizures, Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level, Intellectual disability, Intrauterine growth retardation, Lethargy, Muscular hypotonia, Myoglobinuria, Neonatal hypoglycemia, Neonatal hypotonia, Phenotypic variability, Proportionate short stature, Vomiting
U3	PPFIBP1	1.700916002	0	Anchor protein	BrainSpLMD|8496;BrainSpMouseDev|43376	OMIM|603141;COSMIC||Spitzoid tumour, inflammatory myofibroblastic tumour
U3	HEBP2	1.699416546	0	Unclassified	BrainSpLMD|23593	OMIM|605825
U3	MAP3K13	1.684237414	0	Serine/threonine kinase	BrainSpLMD|9175;Eurexp|euxassay_014094|dorsal grey horn, mantle layer	OMIM|604915;COSMIC||breast
U3	ZNF557	1.681760005	0	Unclassified	BrainSpLMD|79230	
U3	TMEM128	1.675425646	0	Integral membrane protein	BrainSpLMD|85013	
U3	DNAJC21	1.657518607	0	DNA binding protein	BrainSpLMD|134218	OMIM|617048;HPO|134218|Abnormality of skin pigmentation, Abnormality of the metaphysis, Anemia, Autosomal recessive inheritance, Bone marrow hypocellularity, Delayed skeletal maturation, Eczema, Exocrine pancreatic insufficiency, Failure to thrive, Generalized hypotonia, Global developmental delay, Hyperkeratosis, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Malabsorption, Neutropenia, Osteopenia, Pancytopenia, Recurrent infections, Short stature, Thrombocytopenia
U3	RPL5P17	1.652915517	0			
U3	DARS	1.650811621	0	ATPase	BrainSpLMD|1615	OMIM|603084;HPO|1615|Autosomal recessive inheritance, Babinski sign, CNS hypomyelination, Hyperreflexia, Hypoplasia of the corpus callosum, Infantile onset, Leukoencephalopathy, Motor delay, Muscular hypotonia of the trunk, Nystagmus, Progressive, Spasticity
U3	BEND3	1.648592031	0	Unclassified		OMIM|616374
U3	C7orf55.LUC7L2	1.635174463	0			
U3	VCL	1.614664721	0	Cytoskeletal associated protein	BrainSpLMD|7414	OMIM|193065;HPO|7414|Autosomal dominant inheritance, Congestive heart failure, Dilated cardiomyopathy, Dyspnea, Endocardial fibrosis, Hypertrophic cardiomyopathy
U3	ATP5A1	1.600207081	0			
U3	CDKN2AIP	1.563103713	0	RNA binding protein	BrainSpLMD|55602	OMIM|615914
U3	PLEKHA3	1.562849801	0	Adapter molecule	BrainSpLMD|65977;Eurexp|euxassay_007085|incisor, mandible, maxilla, orbito-sphenoid, rib, submandibular gland primordium, ventricular layer	OMIM|607774
U3	ZDHHC5	1.560516593	0	Integral membrane protein	BrainSpLMD|25921	OMIM|614586
U3	CHTOP	1.557004736	0	Unclassified	BrainSpLMD|26097	OMIM|614206
U3	HNRNPH1	1.554846136	0	Ribonucleoprotein	BrainSpLMD|3187	OMIM|601035
U3	NR4A2	1.543625552	0	Nuclear receptor	BrainSpLMD|4929;BrainSpMouseDev|17994	OMIM|601828;HPO|4929|Bradykinesia, Constipation, Dementia, Depressivity, Dysarthria, Dysphagia, Dystonia, Insidious onset, Lewy bodies, Mask-like facies, Neuronal loss in central nervous system, Parkinsonism, Personality changes, Postural instability, Progressive, Resting tremor, Rigidity, Short stepped shuffling gait, Sleep disturbance, Sporadic, Substantia nigra gliosis, Urinary urgency, Weak voice
U3	UNC50	1.538157984	0	RNA binding protein	BrainSpLMD|25972	
U3	C12orf49	1.535271297	0	Unclassified	BrainSpLMD|79794;Eurexp|euxassay_006358|olfactory	
U3	STRN3	1.533657423	0	Calcium binding protein	BrainSpLMD|29966	OMIM|614766
U3	BICC1	1.521946957	0	RNA binding protein	BrainSpLMD|80114	OMIM|614295
U3	VWA9	1.519286392	0			
U3	POLR1C	1.514254321	0	RNA polymerase	BrainSpLMD|9533	OMIM|610060;HPO|9533|Abnormality of bone mineral density, Abnormality of the outer ear, Absent eyelashes, Ataxia, Autosomal recessive inheritance, CNS hypomyelination, Cleft eyelid, Cleft palate, Conductive hearing impairment, Downslanted palpebral fissures, Frontal bossing, Global developmental delay, Hypergonadotropic hypogonadism, Hypodontia, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Intellectual disability, Iris coloboma, Leukodystrophy, Low anterior hairline, Lower eyelid coloboma, Malar flattening, Mandibulofacial dysostosis, Micrognathia, Microtia, Midface retrusion, Narrow internal auditory canal, Open bite, Reduced number of teeth, Retrognathia, Short face, Skeletal dysplasia, Strabismus, Tremor, Visual impairment, Wide nasal bridge
U3	NDUFAF7	1.512571081	0	Unclassified	BrainSpLMD|55471	OMIM|615898
U3	CTBP2	1.498161336	0	Adapter molecule;Transcription regulatory protein	BrainSpLMD|1488;Eurexp|euxassay_012486|eyelid, incisor, lung, marginal layer, metanephros, midgut, molar, pancreas, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|12800	OMIM|602619
U3	NQO2	1.461480821	0	Enzyme: Oxidoreductase	BrainSpLMD|4835;Eurexp|euxassay_018917|adenohypophysis	OMIM|160998
U3	PDGFRA	1.454565788	0	Receptor tyrosine kinase	BrainSpLMD|5156;BrainSpMouseDev|18361	OMIM|173490;COSMIC||GIST, idiopathic hypereosinophilic syndrome, paediatric glioblastoma, GIST;HPO|5156|Abnormality of the nervous system, Autosomal dominant inheritance, Constipation, Dysphagia, Endocardial fibrosis, Eosinophilia, Fatigue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Hepatomegaly, Hyperpigmentation of the skin, Intestinal obstruction, Large hands, Myalgia, Myeloproliferative disorder, Nausea and vomiting, Neoplasm of the stomach, Neurofibromas, Pruritus, Pulmonary infiltrates, Restrictive cardiomyopathy, Sarcoma, Somatic mutation, Splenomegaly, Sporadic, Urticaria, Venous thrombosis
U3	GAN	1.450184471	0	Cytoskeletal associated protein	BrainSpLMD|8139	SFARI||Autism, No category;OMIM|605379;HPO|8139|Abnormal hand morphology, Abnormal pyramidal signs, Abnormality of the Achilles tendon, Abnormality of the cerebellum, Abnormality of the hand, Areflexia, Areflexia of lower limbs, Autosomal recessive inheritance, CNS hypomyelination, Curly hair, Decreased number of peripheral myelinated nerve fibers, Difficulty walking, Diffuse axonal swelling, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Facial palsy, Generalized hypotonia, Hyperreflexia, Hyporeflexia of lower limbs, Intellectual disability, Joint hypermobility, Juvenile onset, Morphological abnormality of the pyramidal tract, Motor axonal neuropathy, Nystagmus, Pes cavus, Pes planus, Phenotypic variability, Pili canaliculi, Proximal muscle weakness, Scoliosis, Sensory axonal neuropathy, Slow progression, Spastic paraplegia, Spasticity, Steppage gait, Talipes equinovarus, Unsteady gait, Woolly hair
U3	RFTN2	1.444508131	0	Unclassified	BrainSpLMD|130132	
U3	DCUN1D3	1.438576545	0	Unclassified	BrainSpLMD|123879;BrainSpMouseDev|87722	OMIM|616167
U3	LAMA1	1.426552173	0	Extracellular matrix protein	BrainSpLMD|284217;Eurexp|euxassay_011017|epithelium, glomeruli, lens, meninges, renal/urinary system, ventricular layer;BrainSpMouseDev|16544	SFARI||Autism, 4 - Minimal evidence;OMIM|150320;HPO|284217|Abnormality of the periventricular white matter, Amblyopia, Autosomal recessive inheritance, Cerebellar cyst, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Delayed speech and language development, Dilated fourth ventricle, Motor delay, Myopia, Nystagmus, Oculomotor apraxia, Retinal atrophy, Retinal dystrophy, Retinal thinning, Strabismus, Variable expressivity
U3	AKIRIN2	1.425458083	0	Unclassified	BrainSpLMD|55122	OMIM|615165
U3	LAPTM4B	1.418085813	0	Unclassified	BrainSpLMD|55353;Eurexp|euxassay_001940|basal plate, choroid plexus, dorsal root ganglion, incisor, lateral recess, mantle layer, submandibular gland primordium, trigeminal V, ventral grey horn, vestibulocochlear VIII;BrainSpMouseDev|76980	OMIM|613296
U3	NDUFA6	1.404187536	0	Enzyme: Oxidoreductase	BrainSpLMD|4700	OMIM|602138
U3	UPF3B	1.387884812	0	RNA binding protein	BrainSpLMD|65109	SFARI||Autism, 2 - Strong candidate;OMIM|300298;HPO|65109|Abnormality of the musculature, Aplasia/Hypoplasia of the corpus callosum, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Disproportionate tall stature, Frontal bossing, Growth abnormality, High forehead, High palate, Hypoplasia of the maxilla, Intellectual disability, Joint hyperflexibility, Kyphosis, Long face, Long foot, Macrocephaly, Macroorchidism, Mandibular prognathia, Micrognathia, Muscular hypotonia, Narrow chest, Narrow face, Nasal speech, Neurological speech impairment, Pectus carinatum, Pectus excavatum, Prominent forehead, Prominent nasal bridge, Scoliosis, Short philtrum, X-linked recessive inheritance
U3	RRM2B	1.387704043	0	Enzyme: Reductase	BrainSpLMD|50484	OMIM|604712;HPO|50484|Abnormality of retinal pigmentation, Aminoaciduria, Anterior hypopituitarism, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cachexia, Depressivity, Dysarthria, EMG abnormality, Exercise intolerance, External ophthalmoplegia, Failure to thrive, Feeding difficulties, Gait ataxia, Generalized hypotonia, Hearing impairment, Increased muscle fatiguability, Intellectual disability, Lactic acidosis, Multiple mitochondrial DNA deletions, Muscular hypotonia, Progressive, Progressive external ophthalmoplegia, Progressive intervertebral space narrowing, Progressive neurologic deterioration, Proximal tubulopathy, Ragged-red muscle fibers, Reduced tendon reflexes, Seizures, Skeletal muscle atrophy, Third degree atrioventricular block
U3	FAM110B	1.382681114	0	Unclassified	BrainSpLMD|90362	OMIM|611394
U3	NUP50	1.365720118	0	Transport/cargo protein	BrainSpLMD|10762	OMIM|604646
U3	DHRS3	1.36382876	0	Enzyme: Dehydrogenase	BrainSpLMD|9249;Eurexp|euxassay_011877|epithelium, fundus region, sublingual gland primordium, urethra, ventricular layer	OMIM|612830
U3	PLCE1	1.358551171	0	Guanine nucleotide exchange factor	BrainSpLMD|51196;Eurexp|euxassay_014545|floor plate, floorplate	OMIM|608414;HPO|51196|Autosomal recessive inheritance, Childhood onset, Diffuse mesangial sclerosis, Edema, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Progressive, Proteinuria, Stage 5 chronic kidney disease
U3	MRPL9	1.348639454	0	Ribosomal subunit	BrainSpLMD|65005	OMIM|611824
U3	ABCF2	1.336481789	0	Unclassified	BrainSpLMD|10061	OMIM|612510
U3	VPS13B	1.334988331	0	Transport/cargo protein	BrainSpLMD|157680	SFARI||Autism, No category;OMIM|607817;HPO|157680|Abnormality of skin pigmentation, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Autosomal recessive inheritance, Cat cry, Cerebellar hypoplasia, Childhood-onset truncal obesity, Chorioretinal dystrophy, Clinodactyly of the 5th finger, Convex nasal ridge, Cubitus valgus, Decreased fetal movement, Delayed puberty, Downslanted palpebral fissures, Facial hypotonia, Failure to thrive in infancy, Feeding difficulties in infancy, Finger syndactyly, Generalized hypotonia, Genu valgum, Gingival overgrowth, Global developmental delay, Growth hormone deficiency, High, narrow palate, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Laryngomalacia, Leukopenia, Long eyelashes, Low anterior hairline, Lumbar hyperlordosis, Macrodontia, Macrodontia of permanent maxillary central incisor, Microcephaly, Micrognathia, Mitral valve prolapse, Motor delay, Muscular hypotonia, Myopia, Narrow palm, Neonatal hypotonia, Neurological speech impairment, Neutropenia, Obesity, Open mouth, Optic atrophy, Pes planus, Prominent nasal bridge, Reduced number of teeth, Reduced visual acuity, Sandal gap, Seizures, Short metacarpal, Short metatarsal, Short philtrum, Short stature, Single transverse palmar crease, Slender toe, Small for gestational age, Tapered finger, Thick corpus callosum, Thick eyebrow, Thick hair, Thoracic scoliosis, Visual impairment, Weak cry
U3	MED6	1.328123033	0	Transcription regulatory protein	BrainSpLMD|10001;Eurexp|euxassay_003411|brain, incisor, liver, lung, metanephros, midgut, molar, olfactory, pancreas, pharyngo-tympanic tube, respiratory, submandibular gland primordium, thymus primordium, tongue, ventricular layer, vibrissa;BrainSpMouseDev|45633	OMIM|602984
U3	LHFP	1.317645058	0			
U3	PRDM2	1.299026805	0	Transcription regulatory protein	BrainSpLMD|7799	OMIM|601196;COSMIC||glioma, colon adenocarcinoma, gastric carcinoma, ovarian carcinoma, HNSCC
U3	WDR76	1.282801784	0	Unclassified	BrainSpLMD|79968	
U3	MTX3	1.280411083	0	Unclassified		
U3	USP42	1.278802031	0	Ubiquitin proteasome system protein		
U3	SCRG1	1.252255649	0	Unclassified	BrainSpLMD|11341;Eurexp|euxassay_007430|axial skeleton, glossopharyngeal IX, left lung, metatarsus, nasal septum, oesophagus, orbito-sphenoid, phalanx, right lung, sternum, temporal bone, trigeminal V, turbinate	OMIM|603163
U3	WDR55	1.247906157	0	Unclassified	BrainSpLMD|54853;Eurexp|euxassay_010396|liver	
U3	PPME1	1.235267953	0	Enzyme: Methyltransferase	BrainSpLMD|51400;Eurexp|euxassay_003617|bladder, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, incisor, olfactory, penis, respiratory, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|611117
U3	POGLUT1	1.225851261	0	Unclassified	BrainSpLMD|56983	OMIM|615618;HPO|56983|Autosomal dominant inheritance, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Epidermal acanthosis, Proximal muscle weakness in lower limbs, Respiratory insufficiency, Scapular winging, Slow progression
U3	ATP13A3	1.217693825	0	ATPase	BrainSpLMD|79572	OMIM|610232
U3	TLE1	1.214061223	0	Transcription regulatory protein	BrainSpLMD|7088;Eurexp|euxassay_017921|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, pituitary, stroma, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|21644	OMIM|600189
U3	PFDN1	1.212635991	0	Chaperone	BrainSpLMD|5201	OMIM|604897
U3	TERF2	1.210633355	0	DNA binding protein	BrainSpLMD|7014	SFARI||Autism, 3 - Suggestive evidence;OMIM|602027
U3	MMS22L	1.206396899	0	Unclassified	BrainSpLMD|253714	OMIM|615614
U3	KPNA1	1.192697986	0	Transport/cargo protein	BrainSpLMD|3836;Eurexp|euxassay_004798|adenohypophysis, adrenal gland, bladder, choroid invagination, conjunctival sac, epidermis, epithelium, inner ear, liver, lung, metanephros, midgut, naso-lacrimal duct, olfactory, pancreas, pericardium, pharyngo-tympanic tube, rectum, respiratory, stomach, submandibular gland primordium, thyroid, trachea, trigeminal V, urethra, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|600686
U3	C16orf72	1.189901524	0	Unclassified	BrainSpLMD|29035	
U3	CTDNEP1	1.180572632	0	Integral membrane protein	BrainSpLMD|23399	OMIM|610684
U3	MID1	1.171291303	0	Transcription regulatory protein;Ubiquitin proteasome system protein	BrainSpLMD|4281;Eurexp|euxassay_013835|excretory component, marginal layer, neural retina, ventricular layer;BrainSpMouseDev|17087	OMIM|300552;HPO|4281|Abnormal heart morphology, Abnormality of the nasopharynx, Agenesis of corpus callosum, Anal atresia, Anteverted nares, Aspiration, Cleft palate, Cleft upper lip, Cryptorchidism, Dysphagia, Esophageal atresia, Frontal bossing, Gastroesophageal reflux, Global developmental delay, Heterogeneous, High palate, Hypertelorism, Hypospadias, Posterior pharyngeal cleft, Prominent forehead, Smooth philtrum, Telecanthus, Thin upper lip vermilion, Tracheoesophageal fistula, Wide nasal bridge, Widow's peak, X-linked recessive inheritance
U3	EEF1B2	1.167678833	0	Translation regulatory protein	BrainSpLMD|1933	OMIM|600655
U3	CGGBP1	1.152535206	0	DNA binding protein	BrainSpLMD|8545	OMIM|603363
U3	SFRP1	1.149050648	0	Secreted polypeptide	BrainSpLMD|6422;BrainSpMouseDev|20140	OMIM|604156
U3	RAP1GDS1	1.142457458	0	Guanine nucleotide exchange factor	BrainSpLMD|5910;Eurexp|euxassay_003801|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, penis, trigeminal V, ventral grey horn	OMIM|179502;COSMIC||T-ALL
U3	RPL21	1.142143088	0	Ribosomal subunit		OMIM|603636;HPO|6144|Alopecia, Aplasia/Hypoplasia of the eyebrow, Autosomal dominant inheritance, Hypotrichosis, Hypotrichosis of the scalp, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Sparse or absent eyelashes
U3	STAT2	1.136634712	0	Transcription factor	BrainSpLMD|6773	OMIM|600556;HPO|6773|Autosomal recessive inheritance, Variable expressivity
U3	TRMT44	1.135672059	0	Unclassified	BrainSpLMD|152992	OMIM|614309
U3	HAS2	1.134362389	0	Enzyme: Glycosyltransferase	BrainSpLMD|3037	OMIM|601636
U3	BCAP31	1.124398847	0	Transport/cargo protein	BrainSpLMD|10134	OMIM|300398;HPO|10134|Abnormal facial shape, Abnormal pyramidal signs, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Cerebral hypomyelination, Dystonia, Failure to thrive, Global developmental delay, Intellectual disability, Intellectual disability, severe, Microcephaly, Sensorineural hearing impairment, Strabismus, Tetraplegia, X-linked recessive inheritance
U3	KAT7	1.12195344	0	Enzyme: Acyltransferase	BrainSpLMD|11143;BrainSpMouseDev|85129	OMIM|609880;COSMIC||CCRCC
U3	CTDSPL	1.117477897	0	Enzyme: Phosphatase	BrainSpLMD|10217	OMIM|608592
U3	PLXNC1	1.103457372	0	Integral membrane protein	BrainSpLMD|10154;BrainSpMouseDev|34001	OMIM|604259
U3	ESCO1	1.097859848	0	Enzyme: Transferase	BrainSpLMD|114799	OMIM|609674
U3	NOL8	1.097801347	0	RNA binding protein	BrainSpLMD|55035	OMIM|611534
U3	SURF4	1.072638759	0	Membrane transport protein		OMIM|185660
U3	DCUN1D4	1.071361773	0	Unclassified	BrainSpLMD|23142;Eurexp|euxassay_007138|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|64907	OMIM|612977
U3	MEST	1.065422465	0	Enzyme: Hydrolase	BrainSpLMD|4232;Eurexp|euxassay_003445|atrium, ventricle;BrainSpMouseDev|17063	OMIM|601029
U3	RDH13	1.062107356	0	Enzyme: Oxidoreductase	BrainSpLMD|112724	
U3	ZYG11B	1.045961008	0	Unclassified	BrainSpLMD|79699	
U3	COL1A1	1.042184926	0	Extracellular matrix protein	BrainSpLMD|1277;BrainSpMouseDev|12625	OMIM|120150;COSMIC||DFSP, aneurysmal bone cyst, Osteogenesis imperfecta;HPO|1277|Abnormality of pelvic girdle bone morphology, Abnormality of the nervous system, Abnormality of the thorax, Absent ossification of calvaria, Aortic dilatation, Aortic root dilatation, Atrophic scars, Autosomal dominant inheritance, Autosomal recessive inheritance, Basilar impression, Beaded ribs, Behavioral abnormality, Biconcave flattened vertebrae, Biconcave vertebral bodies, Blue sclerae, Bowel diverticulosis, Bowing of limbs due to multiple fractures, Breech presentation, Broad long bones, Bruising susceptibility, Calvarial hyperostosis, Cellulitis, Cigarette-paper scars, Congenital bilateral hip dislocation, Congenital diaphragmatic hernia, Congestive heart failure, Convex nasal ridge, Cortical irregularity, Crumpled long bones, Decreased calvarial ossification, Delayed gross motor development, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Ectopia lentis, Epicanthus, Erythema, Femoral bowing, Femoral bowing present at birth, straightening with time, Femoral hernia, Fever, Fibrosarcoma, Fragile skin, Frontal bossing, Gastroesophageal reflux, Generalized hypotonia, Genu recurvatum, Growth abnormality, Hallux valgus, Hearing impairment, Hyperesthesia, Hyperextensibility at elbow, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Hyperextensible skin, Increased susceptibility to fractures, Infantile muscular hypotonia, Inguinal hernia, Irregularly spaced teeth, Joint dislocation, Joint hyperflexibility, Joint hypermobility, Joint laxity, Kyphosis, Large fontanelles, Lop ear, Malar flattening, Micrognathia, Midface retrusion, Mild short stature, Mitral valve prolapse, Molluscoid pseudotumors, Multiple prenatal fractures, Muscle weakness, Myopia, Narrow maxilla, Neonatal short-limb short stature, Neoplasm of the skin, Nonimmune hydrops fetalis, Osteoarthritis, Osteopenia, Otosclerosis, Pectus carinatum, Pectus excavatum, Periosteal thickening of long tubular bones, Pes planus, Platybasia, Platyspondyly, Poor wound healing, Premature birth, Premature birth following premature rupture of fetal membranes, Premature osteoarthritis, Protrusio acetabuli, Pulmonary arterial hypertension, Pulmonary insufficiency, Recurrent fractures, Reduced bone mineral density, Respiratory insufficiency, Scoliosis, Severe generalized osteoporosis, Short stature, Skin ulcer, Slender long bone, Small for gestational age, Soft skin, Subcutaneous nodule, Subcutaneous spheroids, Thickened skin, Thin skin, Tibial bowing, Triangular face, Umbilical hernia, Varicose veins, Wide anterior fontanel, Wormian bones
U3	RIN2	1.041622737	0	Guanine nucleotide exchange factor	BrainSpLMD|54453	OMIM|610222;HPO|54453|Abnormality of the sternum, Alopecia, Autosomal recessive inheritance, Bruising susceptibility, Coarse facial features, Cognitive impairment, Cutis laxa, Decreased body weight, Downslanted palpebral fissures, Eclabion, Gingival overgrowth, High palate, High pitched voice, Hirsutism, Hyperextensible skin, Infra-orbital fold, Irregular dentition, Joint hypermobility, Long philtrum, Muscular hypotonia, Palpebral edema, Pes planus, Prolonged bleeding time, Redundant skin, Scoliosis, Short stature, Sparse and thin eyebrow, Sparse hair, Sparse scalp hair, Thick lower lip vermilion, Umbilical hernia, Upper eyelid edema
U3	PIGG	1.032427433	0	Unclassified	BrainSpLMD|54872	OMIM|616918;HPO|54872|Ataxia, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral atrophy, Congenital onset, Delayed speech and language development, EEG with focal spikes, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Hyporeflexia, Intellectual disability, profound, Intrauterine growth retardation, Seizures, Severe muscular hypotonia
U3	NUDT19	1.023810395	0	Unclassified	Eurexp|euxassay_008589|hindgut, left, midgut, pancreas, right	
U3	POLDIP3	1.021148251	0	RNA binding protein	BrainSpLMD|84271	OMIM|611520
U3	SNX13	1.014658766	0	Transport/cargo protein	BrainSpLMD|23161	OMIM|606589
U3	TXNDC12	1.001323437	0	Enzyme: Reductase	BrainSpLMD|51060	OMIM|609448
U3	SSU72	0.988725472	0	Unclassified	BrainSpLMD|29101	OMIM|617680
U3	UBXN7	0.988165315	0	Unclassified	BrainSpLMD|26043	OMIM|616379
U3	MPRIP.AS1	0.970903923	0			
U3	HERPUD1	0.9698617	0	Integral membrane protein	BrainSpLMD|9709;Eurexp|euxassay_005097|clavicle, mandible, maxilla, olfactory, orbito-sphenoid	OMIM|608070;COSMIC||prostate
U3	NEMF	0.969008295	0	Unclassified	BrainSpLMD|9147	OMIM|608378
U3	DHX57	0.962906338	0	Unclassified	BrainSpLMD|90957	
U3	ARPC4	0.953595279	0	Cytoskeletal associated protein	Eurexp|euxassay_002361|dorsal root ganglion	OMIM|604226
U3	NID1	0.95206863	0	Extracellular matrix protein	BrainSpLMD|4811;Eurexp|euxassay_009707|cervical region, diaphragm, dorsal grey horn, extrinsic ocular muscle, lens, maxillary division, meninges, turbinate bones, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|131390
U3	RPL4P2	0.947303997	0			
U3	SMAD4	0.945483908	0	Transcription factor	BrainSpLMD|4089;Eurexp|euxassay_005333|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, orbito-sphenoid, trigeminal V, vagus X;BrainSpMouseDev|16898	SFARI||Autism, 3 - Suggestive evidence;OMIM|600993;COSMIC||colorectal, pancreatic, small intestine, gastrointestinal polyp;HPO|4089|2-3 toe syndactyly, Abdominal pain, Abnormality of epiphysis morphology, Abnormality of the cardiac septa, Abnormality of the metaphysis, Abnormality of the pubic bone, Abnormality of the ribs, Abnormality of the voice, Anemia, Aortic valve stenosis, Autism, Autosomal dominant inheritance, Blepharophimosis, Brachydactyly, Broad ribs, Camptodactyly, Cavernous hemangioma, Cholecystitis, Clinodactyly, Coarctation of aorta, Cone-shaped epiphysis, Craniofacial hyperostosis, Cryptorchidism, Deeply set eye, EMG abnormality, Enlarged vertebral pedicles, Epistaxis, Failure to thrive, Fine hair, Generalized muscle hypertrophy, Global developmental delay, Hamartomatous polyposis, Hearing impairment, Hematochezia, High-grade hypermetropia, Hypermetropia, Hypertelorism, Hypertension, Hypoalbuminemia, Hypokalemia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Intellectual disability, Intrauterine growth retardation, Joint stiffness, Large iliac wings, Laryngotracheal stenosis, Limitation of joint mobility, Low-set ears, Malar flattening, Mandibular prognathia, Microcephaly, Microcytic anemia, Microtia, Midface retrusion, Migraine, Multiple gastric polyps, Narrow mouth, Neoplasm of the pancreas, Overlapping toe, Patent ductus arteriosus, Pericardial effusion, Platyspondyly, Portal hypertension, Prominent nasal bridge, Ptosis, Radial deviation of finger, Seizures, Severe short stature, Short finger, Short long bone, Short neck, Short palm, Short palpebral fissure, Short philtrum, Short stature, Short toe, Skeletal muscle hypertrophy, Somatic mutation, Sparse hair, Specific learning disability, Spontaneous hematomas, Stiff skin, Strabismus, Telangiectasia of the skin, Thick eyebrow, Thickened calvaria, Thickened skin, Thin upper lip vermilion, Thin vermilion border, Vertebral fusion, Visceral angiomatosis
U3	RPL35A	0.941756231	0	Ribosomal subunit	BrainSpLMD|6165;Eurexp|euxassay_000501|basisphenoid bone, glossopharyngeal IX, mantle layer, orbito-sphenoid, otic capsule, pancreas, sphenoid, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, ventricular layer, vestibular component	OMIM|180468;HPO|6165|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Erythroid hypoplasia, Fatigue, Global developmental delay, Hypertelorism, Hypospadias, Infantile onset, Leukopenia, Low-set ears, Macrocytic anemia, Migraine, Pallor, Reticulocytopenia, Short stature, Ventricular septal defect
U3	NFATC2IP	0.94124723	0	Unclassified	BrainSpLMD|84901	OMIM|614525
U3	CNOT8	0.939426164	0	Transcription regulatory protein	BrainSpLMD|9337;Eurexp|euxassay_011364|incisor	OMIM|603731
U3	RPL35	0.938804344	0	Ribosomal subunit	BrainSpLMD|11224	
U3	FLVCR1	0.934973831	0	Transport/cargo protein	BrainSpLMD|28982	OMIM|609144;HPO|28982|Achalasia, Areflexia, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Broad-based gait, Camptodactyly, Childhood onset, Decreased sensory nerve conduction velocity, Distal muscle weakness, Impaired vibration sensation in the lower limbs, Joint contracture of the hand, Nyctalopia, Optic atrophy, Positive Romberg sign, Recurrent urinary tract infections, Ring scotoma, Rod-cone dystrophy, Scoliosis, Scotoma, Sensory ataxia, Skeletal muscle atrophy, Slow progression, Undetectable electroretinogram, Urinary incontinence
U3	FLNB	0.932619164	0	Cytoskeletal associated protein	BrainSpLMD|2317;Eurexp|euxassay_014002|axial skeleton, clavicle, exoccipital bone, incisor, mandible, maxilla, mesenchyme, metatarsus, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, palatal shelf, phalanx, sternum, submandibular gland primordium, temporal bone, thymus primordium, thyroid, trachea, turbinate, ventricular layer, vibrissa	OMIM|603381;HPO|2317|11 pairs of ribs, Abnormality of femur morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the humerus, Abnormality of the metacarpal bones, Abnormality of the radius, Abnormality of tibia morphology, Absent radius, Accessory carpal bones, Aortic dilatation, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the ulna, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Beaking of vertebral bodies, Bipartite calcaneus, Block vertebrae, Brachydactyly, Broad distal phalanx of finger, Broad face, Broad nasal tip, Broad thumb, Bronchomalacia, C2-C3 subluxation, Carpal synostosis, Cataract, Cervical kyphosis, Cervical segmentation defect, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Club-shaped proximal femur, Clubbing, Conductive hearing impairment, Corneal opacity, Coronal cleft vertebrae, Cryptorchidism, Delayed skeletal maturation, Depressed nasal bridge, Dislocated wrist, Disproportionate short-trunk short stature, Distal tapering femur, Elbow dislocation, Encephalocele, Epiphyseal dysplasia, Fibular aplasia, Finger syndactyly, Flat acetabular roof, Flat face, Frontal bossing, Fused cervical vertebrae, Growth hormone deficiency, Hip dislocation, Hitchhiker thumb, Horizontal sacrum, Hydrops fetalis, Hyperlordosis, Hypertelorism, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Hypoplastic cervical vertebrae, Hypoplastic iliac body, Hypoplastic nasal septum, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Knee dislocation, Large joint dislocations, Laryngeal stenosis, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Mixed hearing impairment, Multinucleated giant chondrocytes in epiphyseal cartilage, Multiple carpal ossification centers, Narrow chest, Neonatal death, Omphalocele, Pectus carinatum, Pectus excavatum, Pes planus, Polyhydramnios, Poorly ossified vertebrae, Preauricular skin tag, Premature birth, Prominent forehead, Prominent occiput, Proptosis, Radial bowing, Rarefaction of retinal pigmentation, Renal cyst, Restrictive ventilatory defect, Rhizomelia, Sandal gap, Scoliosis, Severe short stature, Severe short-limb dwarfism, Shallow orbits, Short distal phalanx of finger, Short femur, Short humerus, Short metacarpal, Short metatarsal, Short nail, Short neck, Short nose, Short stature, Spatulate thumbs, Spina bifida occulta, Spinal cord compression, Spondylolysis, Sporadic, Stillbirth, Talipes equinovalgus, Talipes equinovarus, Tarsal synostosis, Thoracic platyspondyly, Tibial bowing, Tombstone-shaped proximal phalanges, Tracheal stenosis, Tracheomalacia, Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Widened distal phalanges
U3	C11orf58	0.922765462	0	Unclassified	BrainSpLMD|10944	
U3	AGO1	0.922510197	0	Translation regulatory protein	BrainSpLMD|26523;Eurexp|euxassay_012863|facial VII, incisor, mantle layer, marginal layer, molar, neural retina, olfactory, trigeminal V, ventricular layer	OMIM|606228
U3	MLH1	0.921146359	0	DNA repair protein	BrainSpLMD|4292	OMIM|120436;COSMIC||colorectal, endometrial, ovarian, CNS tumours, colorectal, endometrial, ovarian, CNS;HPO|4292|Abdominal pain, Abnormality of abdomen morphology, Adenoma sebaceum, Anxiety, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary freckling, Basal cell carcinoma, Benign gastrointestinal tract tumors, Benign genitourinary tract neoplasm, Breast carcinoma, Cafe-au-lait spot, Colon cancer, Colonic diverticula, Constipation, Death in early adulthood, Death in infancy, Depressivity, Duodenal adenocarcinoma, Ependymoma, Fatigue, Gastrointestinal hemorrhage, Glioblastoma, Hypermelanotic macule, Hypertonia, Increased intracranial pressure, Irritability, Laryngeal carcinoma, Leukemia, Lymphoma, Malabsorption, Malignant genitourinary tract tumor, Medulloblastoma, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Neoplasm of the stomach, Neuroblastoma, Rhabdomyosarcoma, Sebaceous gland carcinoma, Seizures, Weight loss
U3	SOX9	0.918417385	0	Transcription factor	BrainSpLMD|6662;Eurexp|euxassay_002633|axial skeleton, basisphenoid bone, calyces, exoccipital bone, femur, lung, mesenchyme, naris, nasal septum, nucleus pulposus, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, pharyngo-tympanic tube, trachea, turbinate, ventricular layer, vibrissa;BrainSpMouseDev|20444	OMIM|608160;HPO|6662|11 pairs of ribs, Abnormal heart morphology, Abnormal scrotal rugation, Abnormal sex determination, Abnormality of male internal genitalia, Abnormality of the labia, Abnormality of the pharynx, Abnormality of the scrotum, Abnormality of the uterus, Absent sternal ossification, Ambiguous genitalia, Anterior tibial bowing, Apnea, Autosomal dominant inheritance, Azoospermia, Bifid scrotum, Blepharophimosis, Cleft palate, Clitoral hypertrophy, Cryptorchidism, Decreased fertility, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Depressed nasal bridge, Depressed nasal ridge, Disproportionate short-limb short stature, Dysgerminoma, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Failure to thrive, Female external genitalia in individual with 46,XY karyotype, Femoral bowing, Fibular hypoplasia, Flat face, Generalized hypotonia, Glossoptosis, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hearing impairment, High forehead, Hip dislocation, Hydrocephalus, Hydronephrosis, Hypergonadotropic hypogonadism, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the vagina, Hypoplastic cervical vertebrae, Hypoplastic iliac wing, Hypoplastic inferior ilia, Hypoplastic scapulae, Hypospadias, Kyphoscoliosis, Laryngomalacia, Low-set ears, Macrocephaly, Male hypogonadism, Male infertility, Male pseudohermaphroditism, Micrognathia, Micropenis, Narrow chest, Neonatal respiratory distress, Neonatal short-limb short stature, Osteoporosis, Polycystic ovaries, Polyhydramnios, Poorly ossified cervical vertebrae, Primary amenorrhea, Proptosis, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Scrotal hypoplasia, Sex reversal, Short neck, Short palpebral fissure, Short stature, Shortening of all phalanges of fingers, Shortening of all phalanges of the toes, Skin dimples, Small abnormally formed scapulae, Small face, Sparse axillary hair, Sparse pubic hair, Streak ovary, Talipes equinovarus, Testicular dysgenesis, Thin ribs, Thoracic hypoplasia, Tibial bowing, Tracheobronchomalacia, True hermaphroditism, Upper airway obstruction, Urogenital sinus anomaly, Vanishing testis, Wide anterior fontanel
U3	ITCH	0.915687143	0	Ubiquitin proteasome system protein	BrainSpLMD|83737;Eurexp|euxassay_009772|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|606409;HPO|83737|Abnormal facial shape, Autoimmunity, Autosomal recessive inheritance, Camptodactyly, Clinodactyly, Dolichocephaly, Frontal bossing, Global developmental delay, Hepatomegaly, Low-set ears, Posteriorly rotated ears, Prominent occiput, Proptosis, Relative macrocephaly, Short chin, Splenomegaly
U3	AKAP13	0.911293185	0	Guanine nucleotide exchange factor	BrainSpLMD|11214	OMIM|604686
U3	EIF3A	0.909199185	0	Translation regulatory protein	BrainSpLMD|8661	OMIM|602039
U3	FOXK2	0.908497383	0	Transcription factor;DNA binding protein	BrainSpLMD|3607;BrainSpMouseDev|44679	OMIM|147685
U3	NFKBIA	0.89928133	0	Transcription regulatory protein	BrainSpLMD|4792;Eurexp|euxassay_009409|anterior, mandible, maxilla, molar, naris, thymus primordium;BrainSpMouseDev|17802	OMIM|164008;HPO|4792|Anhidrosis, Anhidrotic ectodermal dysplasia, Aplasia of the sweat glands, Autosomal dominant inheritance, Concave nasal ridge, Conical tooth, Frontal bossing, Heat intolerance, Hypodontia, Hypohidrosis, Infantile onset, Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Sparse hair
U3	CPNE1	0.895741794	0	Transport/cargo protein	BrainSpLMD|8904	OMIM|604205
U3	NDUFA9	0.894612136	0	Enzyme: Oxidoreductase	BrainSpLMD|4704;Eurexp|euxassay_018912|axial muscle, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, liver, lung, mandible, mantle layer, maxilla, midgut, neural retina, orbito-sphenoid, pancreas, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, vibrissa	OMIM|603834;HPO|4704|Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
U3	LEF1	0.872726014	0	Transcription factor	BrainSpLMD|51176;BrainSpMouseDev|16613	OMIM|153245;COSMIC||B-ALL, T-ALL, eyelid sebaceous carcinoma, AML, lymphomas
U3	XPO7	0.87074178	0	Transport/cargo protein	BrainSpLMD|23039	OMIM|606140
U3	ARID5B	0.866747953	0	DNA binding protein	Eurexp|euxassay_016566|mantle layer;BrainSpMouseDev|47212	OMIM|608538
U3	RP11.658F2.8	0.865323055	0			
U3	RPL37A	0.861062871	0	Ribosomal subunit	BrainSpLMD|6168;Eurexp|euxassay_006825|embryo	OMIM|613314
U3	TFRC	0.856529799	0	Membrane transport protein	BrainSpLMD|7037;Eurexp|euxassay_005557|left, left lung, meninges, midgut, right, right lung, stomach, submandibular gland primordium	OMIM|190010;COSMIC||NHL;HPO|7037|Autosomal recessive inheritance, Decreased antibody level in blood, Neutropenia
U3	AK4	0.851788619	0	Enzyme: Phosphotransferase	BrainSpLMD|205;Eurexp|euxassay_010883|clavicle, hindgut, incisor, midgut, molar, olfactory, rectum, stomach	OMIM|103030
U3	GRSF1	0.847002573	0	RNA binding protein	BrainSpLMD|2926	OMIM|604851
U3	SKA2	0.843297096	0	Unclassified	BrainSpLMD|348235;Eurexp|euxassay_007512|left lung, metanephros, olfactory, retina, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|616674
U3	ALG14	0.840015844	0	Unclassified	BrainSpLMD|199857	OMIM|612866;HPO|199857|Autosomal recessive inheritance, Frequent falls
U3	CCT7	0.83872821	0	Chaperone	BrainSpLMD|10574	OMIM|605140
U3	CIZ1	0.831451977	0	DNA binding protein	BrainSpLMD|25792	OMIM|611420
U3	LAPTM4A	0.828416468	0	Membrane transport protein	BrainSpLMD|9741	
U3	DDX52	0.81978671	0	DNA binding protein	BrainSpLMD|11056	OMIM|612500
U3	PEA15	0.818364835	0	Transport/cargo protein	BrainSpLMD|8682;Eurexp|euxassay_011580|neural retina, ventral grey horn, ventricular layer	OMIM|603434
U3	PLEKHH2	0.81615735	0	Cytoskeletal protein	BrainSpLMD|130271	OMIM|612723
U3	OFD1	0.809894099	0	Unclassified	BrainSpLMD|8481;Eurexp|euxassay_001435|lung, nasal septum, oral epithelium, urethra	SFARI||Autism, 4 - Minimal evidence;OMIM|300170;HPO|8481|Abnormal cortical gyration, Abnormal electroretinogram, Abnormal heart morphology, Abnormality of color vision, Abnormality of retinal pigmentation, Abnormality of the cerebellum, Abnormality of the retinal vasculature, Abnormality of the rib cage, Abnormality of the testis, Abnormality of toe, Accessory oral frenulum, Agenesis of corpus callosum, Agenesis of permanent teeth, Alopecia, Alveolar ridge overgrowth, Anteverted nares, Arachnoid cyst, Ataxia, Atypical scarring of skin, Bifid tongue, Blindness, Brachydactyly, Broad alveolar ridges, Broad palm, Carious teeth, Cataract, Cerebellar vermis hypoplasia, Cleft palate, Clinodactyly, Clinodactyly of the 5th finger, Coarse facial features, Conductive hearing impairment, Cone-shaped epiphysis, Congenital hip dislocation, Congenital onset, Deep philtrum, Downslanted palpebral fissures, Enlarged cisterna magna, Epicanthus, Facial asymmetry, Facial capillary hemangioma, Feeding difficulties in infancy, Finger syndactyly, Foot polydactyly, Frontal bossing, Generalized hypotonia, Glaucoma, Global developmental delay, Gray matter heterotopias, Growth delay, Hamartoma of tongue, Hearing impairment, Hepatic cysts, Hepatic fibrosis, High palate, Hirsutism, Hydrocephalus, Hyperactive deep tendon reflexes, Hyperinsulinemia, Hypertelorism, Hypertension, Hypodontia, Hypogonadism, Hypoplasia of dental enamel, Hypoplasia of penis, Hypothalamic hamartoma, Increased number of teeth, Inguinal hernia, Intellectual disability, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Keratoconus, Lobulated tongue, Low-set ears, Macrocephaly, Median cleft lip, Microcephaly, Micropenis, Microretrognathia, Milia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Ovarian cyst, Photophobia, Pneumonia, Polycystic kidney dysplasia, Polydactyly, Porencephalic cyst, Postaxial polydactyly, Posteriorly rotated ears, Progressive night blindness, Proteinuria, Radial deviation of finger, Recurrent infections, Recurrent respiratory infections, Recurrent upper respiratory tract infections, Reduced bone mineral density, Rod-cone dystrophy, Scaphocephaly, Seizures, Sensorineural hearing impairment, Short finger, Short neck, Short nose, Short stature, Short toe, Single transverse palmar crease, Small nail, Sparse hair, Syndactyly, Talipes equinovarus, Tapered finger, Telecanthus, Thick vermilion border, Thickened nuchal skin fold, Thin upper lip vermilion, Tongue nodules, U-Shaped upper lip vermilion, Underdeveloped nasal alae, Wide intermamillary distance, Wide mouth, Wide nasal bridge, Wide nose, X-linked dominant inheritance, X-linked recessive inheritance
U3	BTBD6	0.808812312	0	Unclassified	BrainSpLMD|90135	
U3	SLU7	0.806185175	0	Unclassified	BrainSpLMD|10569	OMIM|605974
U3	SH3BGRL2	0.804542164	0	Unclassified	BrainSpLMD|83699;BrainSpMouseDev|84435	OMIM|615678
U3	ETNK1	0.796222467	0	Enzyme: Phosphotransferase	BrainSpLMD|55500;Eurexp|euxassay_008092|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, thymus primordium, trigeminal V	OMIM|609858;COSMIC||aCML, CMML, SM-AHD, HES
U3	SAMD4A	0.782412996	0	Unclassified	BrainSpLMD|23034	OMIM|610747
U3	UBE2G2	0.781085999	0	Ubiquitin proteasome system protein	BrainSpLMD|7327	OMIM|603124
U3	UBR4	0.777609148	0	Unclassified	BrainSpLMD|23352	OMIM|609890
U3	RAP2C	0.767215896	0	GTPase	BrainSpLMD|57826	
U3	CEP57	0.766875464	0	Transport/cargo protein	BrainSpLMD|9702;Eurexp|euxassay_006338|ventricular layer	OMIM|607951;HPO|9702|Abnormality of vision, Aortic regurgitation, Ascites, Atrial septal defect, Autosomal recessive inheritance, Cataract, Clinodactyly, Coarctation of aorta, Corneal opacity, Dandy-Walker malformation, Epicanthus, Generalized hypotonia, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Intrauterine growth retardation, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Phenotypic variability, Polyhydramnios, Short stature, Small for gestational age, Subvalvular aortic stenosis, Triangular face, Ventricular septal defect
U3	NUP88	0.764168301	0	Transport/cargo protein	BrainSpLMD|4927	OMIM|602552
U3	TMEM66	0.76386212	0			
U3	FRZB	0.763203853	0	Integral membrane protein	BrainSpLMD|2487;Eurexp|euxassay_018108|Meckel's cartilage, adrenal gland, aorta, chondrocranium, clavicle, cortex, dorsal grey horn, epithelium, incisor, intermediate grey horn, mandible, marginal layer, maxilla, mitral valve, molar, orbito-sphenoid, penis, petrous part, rib, spleen primordium, sternum, testis, tricuspid valve, ventricular layer;BrainSpMouseDev|20141	OMIM|605083
U3	LETM1	0.757075596	0	Calcium binding protein	BrainSpLMD|3954	OMIM|604407;HPO|3954|Abnormal form of the vertebral bodies, Abnormal sternal ossification, Abnormality of the heart valves, Abnormality of the kidney, Abnormality of the pinna, Absent septum pellucidum, Accessory spleen, Aplasia cutis congenita of scalp, Aplasia/Hypoplasia of the lungs, Arachnodactyly, Ataxia, Atrial septal defect, Autosomal dominant inheritance, Calvarial skull defect, Cavum septum pellucidum, Cleft palate, Cleft upper lip, Congenital diaphragmatic hernia, Convex nasal ridge, Craniofacial asymmetry, Cryptorchidism, Decreased fetal movement, Decreased muscle mass, Delayed skeletal maturation, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Ectopia pupillae, Epicanthus, Failure to thrive, Frontal bossing, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemangioma, High anterior hairline, High forehead, Highly arched eyebrow, Hip dislocation, Hyperconvex fingernails, Hypertelorism, Hypodontia, Hypoplastic pubic rami, Hypospadias, Intellectual disability, severe, Intrauterine growth retardation, Iris coloboma, Kyphosis, Low posterior hairline, Low-set, posteriorly rotated ears, Malrotation of small bowel, Metatarsus adductus, Microcephaly, Micrognathia, Microtia, Muscular hypotonia, Nystagmus, Optic atrophy, Periventricular cysts, Preauricular pit, Preauricular skin tag, Preaxial hand polydactyly, Precocious puberty, Prominent glabella, Proptosis, Pseudoepiphyses of the metacarpals, Ptosis, Radioulnar synostosis, Rib fusion, Rib segmentation abnormalities, Rieger anomaly, Sacral dimple, Scoliosis, Seizures, Severe postnatal growth retardation, Short hallux, Short philtrum, Short stature, Short thumb, Short upper lip, Small for gestational age, Split hand, Sporadic, Stenosis of the external auditory canal, Stereotypy, Strabismus, Talipes equinovarus, Tethered cord, Ventricular septal defect, Ventriculomegaly, Vertebral fusion, Wide nasal bridge
U3	NUP155	0.754022761	0	Transport/cargo protein	BrainSpLMD|9631	OMIM|606694;HPO|9631|Atrial fibrillation, Atrial flutter, Autosomal recessive inheritance
U3	ZFHX4	0.743531253	0	Transcription factor	BrainSpLMD|79776;Eurexp|euxassay_005820|epidermis, mantle layer, nasal septum, urethra;BrainSpMouseDev|56662	OMIM|606940;HPO|79776|Autosomal dominant inheritance, Congenital ptosis
U3	CYFIP1	0.737232373	0	Unclassified	BrainSpLMD|23191;Eurexp|euxassay_000633|incisor	SFARI||Autism, No category;OMIM|606322
U3	ANO10	0.733767035	0	Integral membrane protein	BrainSpLMD|55129	OMIM|613726;HPO|55129|Autosomal recessive inheritance, Cerebellar atrophy, Dysarthria, Dysmetria, Fasciculations, Gait ataxia, Hypermetric saccades, Hyperreflexia, Limb ataxia, Nystagmus, Pes cavus, Truncal ataxia
U3	POLR3E	0.733138611	0	RNA polymerase	BrainSpLMD|55718;Eurexp|euxassay_003027|calyces, chondrocranium, foregut-midgut junction, hindgut, midgut, stomach, submandibular gland primordium	
U3	CEP290	0.727620306	0		BrainSpLMD|80184	SFARI||Autism, No category;OMIM|610142;HPO|80184|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the nervous system, Abnormality of the optic disc, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar vermis, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Atrial septal defect, Autistic behavior, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Blindness, Cataract, Central apnea, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cleft palate, Congenital blindness, Congenital hepatic fibrosis, Cryptorchidism, Dandy-Walker malformation, Depressed nasal ridge, Encephalocele, Episodic tachypnea, Full cheeks, Generalized hypotonia, Global developmental delay, Hemiplegia/hemiparesis, Hypertelorism, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the ovary, Hyposmia, Impaired renal concentrating ability, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Keratoconus, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nephropathy, Nystagmus, Obesity, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Pigmentary retinopathy, Postaxial foot polydactyly, Postaxial hand polydactyly, Premature ovarian insufficiency, Progressive visual loss, Ptosis, Reduced visual acuity, Renal cortical cysts, Renal cyst, Retinal coloboma, Retinal dystrophy, Rod-cone dystrophy, Sclerocornea, Seizures, Severe visual impairment, Short stature, Sloping forehead, Stage 5 chronic kidney disease, Tachypnea, Talipes, Tapetoretinal degeneration, Thickened superior cerebellar peduncle, Ventricular septal defect, Visual impairment
U3	SDE2	0.726017567	0	Unclassified	BrainSpLMD|163859;Eurexp|euxassay_003360|submandibular gland primordium, thymus primordium	
U3	CNP	0.721136165	0	Enzyme: Phosphodiesterase	BrainSpLMD|1267;BrainSpMouseDev|12582	OMIM|123830
U3	ZFP14	0.715209264	0	DNA binding protein	Eurexp|euxassay_006835|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	
U3	BARD1	0.711914804	0	Transcription regulatory protein	BrainSpLMD|580	OMIM|601593;COSMIC||breast cancer, ovarian cancer, breast cancer, endometrioid cancer;HPO|580|Abnormality of the fallopian tube, Breast carcinoma, Ovarian neoplasm, Primary peritoneal carcinoma
U3	FBXO21	0.711339779	0	Ubiquitin proteasome system protein	BrainSpLMD|23014;Eurexp|euxassay_006858|cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|609095
U3	NOP56	0.708210212	0	Unclassified	BrainSpLMD|10528	OMIM|614154;HPO|10528|Autosomal dominant inheritance, Babinski sign, Cerebellar atrophy, Dysarthria, Gait ataxia, Hyperreflexia, Impaired smooth pursuit, Incoordination, Limb ataxia, Progressive, Slow saccadic eye movements, Tongue atrophy, Tongue fasciculations
U3	MEAF6	0.707207646	0	Unclassified	BrainSpLMD|64769	OMIM|611001
U3	MMP16	0.706727052	0	Metallo protease	BrainSpLMD|4325;Eurexp|euxassay_002543|body-wall mesenchyme, cochlear duct, cranium, head mesenchyme, mandible, rib, vibrissa	OMIM|602262
U3	C1orf43	0.694773296	0	Unclassified	BrainSpLMD|25912	OMIM|617428
U3	RP11.1017G21.3	0.675118824	0			
U3	NF2	0.67282895	0	Cytoskeletal associated protein	BrainSpLMD|4771	OMIM|607379;COSMIC||meningioma, acoustic neuroma, renal, meningioma, acoustic neuroma;HPO|4771|Abnormality of the skin, Abnormality of the vertebral column, Adult onset, Ataxia, Autosomal dominant inheritance, Cataract, Epiretinal membrane, Incomplete penetrance, Meningioma, Migraine, Peripheral neuropathy, Schwannoma, Sensorineural hearing impairment, Somatic mutation, Spinal cord tumor, Tinnitus, Variable expressivity, Vertigo
U3	ECT2	0.6707129	0	Guanine nucleotide exchange factor	BrainSpLMD|1894;Eurexp|euxassay_018792|marginal layer, ventricular layer	OMIM|600586
U3	TM2D3	0.670014504	0	Integral membrane protein	BrainSpLMD|80213	OMIM|610014
U3	NDUFA1	0.669619073	0	Enzyme: Oxidoreductase	BrainSpLMD|4694;Eurexp|euxassay_003059|facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|300078;HPO|4694|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
U3	NSD1	0.669097099	0	Transcription factor	BrainSpLMD|64324;BrainSpMouseDev|17960	SFARI||Autism, No category;OMIM|606681;COSMIC||AML, Sotos Syndrome;HPO|64324|Abnormal glucose tolerance, Abnormality of immune system physiology, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Accelerated skeletal maturation, Adrenocortical carcinoma, Adrenocortical cytomegaly, Advanced eruption of teeth, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Atrial septal defect, Autosomal dominant inheritance, Behavioral abnormality, Broad foot, Broad forehead, Broad thumb, Camptodactyly of finger, Cardiomegaly, Cardiomyopathy, Cavum septum pellucidum, Coarse facial features, Conductive hearing impairment, Cryptorchidism, Dandy-Walker malformation, Deep philtrum, Deep-set nails, Delayed skeletal maturation, Depressed nasal ridge, Diastasis recti, Dolichocephaly, Downslanted palpebral fissures, Enlarged cisterna magna, Enlarged kidney, Expressive language delay, Feeding difficulties in infancy, Fine hair, Frontal bossing, Genu valgum, Global developmental delay, Gonadoblastoma, Hemihypertrophy, Hepatoblastoma, Hepatomegaly, High anterior hairline, High forehead, High palate, High, narrow palate, Hoarse voice, Hypermetropia, Hyperreflexia, Hypertelorism, Hypoglycemia, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Joint laxity, Joint stiffness, Large fontanelles, Large hands, Long foot, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Macrotia, Mandibular prognathia, Microcephaly, Micrognathia, Midface retrusion, Muscular hypotonia, Myopia, Narrow palate, Neonatal hypoglycemia, Neonatal hypotonia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Nystagmus, Obesity, Omphalocele, Otitis media, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Pes planus, Pointed chin, Poor coordination, Posterior helix pit, Precocious puberty, Prominent forehead, Prominent metopic ridge, Prominent occiput, Proptosis, Redundant skin, Renal cortical cysts, Retrognathia, Round face, Scoliosis, Seizures, Short stature, Small nail, Spasticity, Specific learning disability, Sporadic, Strabismus, Tall stature, Thin nail, Ventricular septal defect, Ventriculomegaly, Vesicoureteral reflux
U3	RHOA	0.665593068	0	GTPase	BrainSpLMD|387;BrainSpMouseDev|11635	OMIM|165390;COSMIC||diffuse gastric, T cell lymphomas, paediatric Burkitt lymphoma
U3	PARP8	0.664080836	0	Unclassified	BrainSpLMD|79668;Eurexp|euxassay_003449|adenohypophysis, bladder, central nervous system, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, heart, hindlimb, incisor, intervertebral disc, limb, liver, lung, metanephros, midgut, molar, neural retina, oesophagus, olfactory, penis, respiratory, stomach, stroma, thymus primordium, tongue, trachea, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, visceral organ	
U3	NFKBIZ	0.660772891	0	Transcription regulatory protein	BrainSpLMD|64332	OMIM|608004
U3	HARS2	0.659836059	0	Enzyme: Ligase	BrainSpLMD|23438;Eurexp|euxassay_002834|lung, ventricle	OMIM|600783;HPO|23438|Autosomal recessive inheritance, Sensorineural hearing impairment
U3	ARHGAP21	0.655702521	0	GTPase activating protein	BrainSpLMD|57584;Eurexp|euxassay_007662|dorsal root ganglion, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, ventral grey horn	OMIM|609870
U3	ZC3H11A	0.647565229	0	DNA binding protein	BrainSpLMD|9877	OMIM|613513
U3	LINC00969	0.646516424	0			
U3	ATRX	0.646251505	0	Transcription regulatory protein	BrainSpLMD|546	SFARI||Autism, 4 - Minimal evidence;OMIM|300504;COSMIC||pancreatic neuroendocrine tumours, paediatric GBM, ATR-X (alpha thalassemia/mental retardation) syndrome;HPO|546|Abnormal hemoglobin, Abnormality of blood and blood-forming tissues, Abnormality of fontanelles, Abnormality of metabolism/homeostasis, Absent frontal sinuses, Ambiguous genitalia, Anteverted nares, Autism, Brachydactyly, Bruising susceptibility, Cerebral atrophy, Clinodactyly, Coarse facial features, Constipation, Coxa valga, Cryptorchidism, Decreased testicular size, Delayed skeletal maturation, Depressed nasal bridge, Depressed nasal ridge, Dolichocephaly, Drooling, Dysphasia, Dyspnea, Epicanthus, Everted lower lip vermilion, Exotropia, Fatigue, Flat face, Gastroesophageal reflux, Genu valgum, Global developmental delay, Hemivertebrae, Hemoglobin H, High palate, Hydronephrosis, Hyperactivity, Hyperreflexia, Hypertelorism, Hypochromic microcytic anemia, Hypogonadism, Hypoplasia of penis, Hypoplastic philtrum, Hypospadias, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Kyphoscoliosis, Low-set ears, Lower limb hypertonia, Macroglossia, Malar flattening, Male pseudohermaphroditism, Microcephaly, Microcytic anemia, Micrognathia, Micropenis, Microtia, Midface retrusion, Muscular hypotonia, Myelodysplasia, Narrow forehead, Neutropenia, Open mouth, Optic atrophy, Paroxysmal bursts of laughter, Perimembranous ventricular septal defect, Pes planus, Phenotypic variability, Posteriorly rotated ears, Postnatal growth retardation, Profound global developmental delay, Protruding tongue, Ptosis, Radial deviation of finger, Reduced alpha/beta synthesis ratio, Renal agenesis, Renal hypoplasia, Scrotal hypoplasia, Seizures, Sensorineural hearing impairment, Shawl scrotum, Short neck, Short nose, Short stature, Short upper lip, Slender finger, Spasticity, Talipes calcaneovalgus, Talipes equinovarus, Tapered finger, Telecanthus, Tented upper lip vermilion, Thick lower lip vermilion, Thin upper lip vermilion, Thrombocytopenia, Triangular nasal tip, U-Shaped upper lip vermilion, Umbilical hernia, Upslanted palpebral fissure, Vesicoureteral reflux, Vomiting, Wide mouth, Wide nasal bridge, Widely-spaced maxillary central incisors, X-linked dominant inheritance, X-linked recessive inheritance
U3	PIK3CA	0.639870815	0	Lipid Kinase	BrainSpLMD|5290	OMIM|171834;COSMIC||colorectal, gastric, glioblastoma, breast;HPO|5290|Abdominal pain, Abnormality of cardiovascular system morphology, Abnormality of metabolism/homeostasis, Abnormality of the cardiovascular system, Abnormality of the cerebral vasculature, Abnormality of the penis, Adenoma sebaceum, Adult onset, Alveolar cell carcinoma, Angioid streaks of the retina, Anxiety, Aplasia/Hypoplasia of the cerebellum, Arteriovenous malformation, Asymmetric growth, Ataxia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast carcinoma, Broad forehead, Capillary malformation, Cataract, Cavernous hemangioma, Cavum septum pellucidum, Cognitive impairment, Colon cancer, Colonic diverticula, Colorectal polyposis, Conjunctival hamartoma, Constipation, Cranial hyperostosis, Cutis marmorata, Death in early adulthood, Death in infancy, Depressed nasal bridge, Depressivity, Downslanted palpebral fissures, Dysgerminoma, Epicanthus, Facial asymmetry, Failure to thrive, Fatigue, Fibroadenoma of the breast, Finger syndactyly, Foot polydactyly, Frontal bossing, Full cheeks, Furrowed tongue, Gastrointestinal hemorrhage, Generalized hyperkeratosis, Generalized hypotonia, Glioblastoma, Global developmental delay, Goiter, Gynecomastia, Hamartomatous polyposis, Hand polydactyly, Hearing impairment, Hemihypertrophy, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Hernia, Heterogeneous, High forehead, High palate, Hydrocele testis, Hydrocephalus, Hypermelanotic macule, Hypertelorism, Hyperthyroidism, Hypertonia, Hypoplasia of the maxilla, Hypothyroidism, Increased intracranial pressure, Intellectual disability, Intention tremor, Irritability, Joint hyperflexibility, Joint laxity, Kyphosis, Large earlobe, Leukemia, Lipoma, Macrocephaly, Macrodactyly, Macroglossia, Macule, Malabsorption, Megalencephaly, Melanocytic nevus, Meningioma, Micrognathia, Micronodular cirrhosis, Microphthalmia, Migraine, Mucosal telangiectasiae, Muscular hypotonia, Myopia, Narrow mouth, Nausea and vomiting, Neoplasm of the rectum, Neoplasm of the stomach, Nephroblastoma, Nevus flammeus, Numerous nevi, Ovarian cyst, Ovarian papillary adenocarcinoma, Overgrowth, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Papilloma, Papule, Pectus excavatum, Polydactyly, Polymicrogyria, Progressive macrocephaly, Renal cell carcinoma, Sandal gap, Scoliosis, Seizures, Skin tags, Smooth philtrum, Somatic mutation, Splenomegaly, Sporadic, Stomach cancer, Subacute progressive viral hepatitis, Subcutaneous lipoma, Subcutaneous nodule, Syndactyly, Telangiectasia of the skin, Thyroid adenoma, Thyroiditis, Toe syndactyly, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Varicocele, Venous malformation, Ventricular septal defect, Ventriculomegaly, Verrucae, Visceral angiomatosis, Weight loss, Wide mouth
U3	IPO5	0.638724882	0	Transport/cargo protein	BrainSpLMD|3843	OMIM|602008
U3	ZNF589	0.628850986	0	DNA binding protein	BrainSpLMD|51385	OMIM|616702
U3	PTBP2	0.610930589	0	RNA binding protein	BrainSpLMD|58155	SFARI||Autism, 4 - Minimal evidence;OMIM|608449
U3	FZD5	0.608744537	0	G protein coupled receptor	BrainSpLMD|7855;BrainSpMouseDev|14143	OMIM|601723
U3	LCLAT1	0.600037848	0	Enzyme: Acyltransferase	BrainSpLMD|253558	OMIM|614241
U3	RNF24	0.599744977	0	Transcription factor	BrainSpLMD|11237	OMIM|612489
U3	RPL24	0.599027579	0	Ribosomal subunit		OMIM|604180
U3	AKAP12	0.592145311	0	Anchor protein	BrainSpLMD|9590	OMIM|604698
U3	OAT	0.589925679	0	Enzyme: Aminotransferase	BrainSpLMD|4942	OMIM|613349;HPO|4942|Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Blindness, Chorioretinal atrophy, EMG abnormality, Myopia, Nyctalopia, Posterior subcapsular cataract, Proximal muscle weakness
U3	CWC15	0.589367825	0	Unclassified	BrainSpLMD|51503	
U3	CLUAP1	0.57143033	0	Unclassified	BrainSpLMD|23059;Eurexp|euxassay_012421|facial VII, olfactory, thymus primordium, trigeminal V	OMIM|616787
U3	CHD1	0.570659477	0	DNA binding protein	BrainSpLMD|1105	OMIM|602118
U3	PELI1	0.56075688	0	Adapter molecule	BrainSpLMD|57162;Eurexp|euxassay_011663|cortex, forebrain, hindbrain, incisor, lung, marginal layer, midbrain, molar, neural retina, olfactory, spinal cord, submandibular gland primordium, thymus primordium, vibrissa, vomeronasal organ	OMIM|614797
U3	KDM1A	0.559573301	0	Enzyme: Deacetylase;Transcription regulatory protein	BrainSpLMD|23028	OMIM|609132;HPO|23028|Abnormal vertebral morphology, Autosomal dominant inheritance, Frontal bossing, Generalized hypotonia, Highly arched eyebrow, Lower limb hypertonia, Motor delay, Short thumb, Tapered finger
U3	COX6A1	0.557051465	0	Enzyme: Oxidoreductase		OMIM|602072;HPO|1337|Areflexia, Autosomal recessive inheritance, Distal sensory impairment, Foot dorsiflexor weakness, Hyporeflexia, Onion bulb formation, Pes cavus, Slow progression, Steppage gait
U3	CRY1	0.556002086	0	Translation regulatory protein	BrainSpLMD|1407	OMIM|601933
U3	RABIF	0.545999879	0	Guanine nucleotide exchange factor	BrainSpLMD|5877	OMIM|603417
U3	PEX26	0.541967697	0	Integral membrane protein	BrainSpLMD|55670	OMIM|608666;HPO|55670|Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the liver, Abnormality of the palate, Anteverted nares, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, Cataract, Chorioretinal abnormality, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Death in infancy, Decreased liver function, Depressed nasal bridge, Developmental regression, Dolichocephaly, EEG abnormality, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized neonatal hypotonia, Global developmental delay, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypospadias, Jaundice, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Muscular hypotonia, Neonatal hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Polymicrogyria, Posterior embryotoxon, Posteriorly rotated ears, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Respiratory insufficiency, Retinal dystrophy, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Skeletal dysplasia, Spasticity, Strabismus, Talipes equinovarus, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
U3	GPBP1	0.539904629	0	Transcription regulatory protein	BrainSpLMD|65056	OMIM|608412
U3	TSPYL1	0.538709105	0	Unclassified	BrainSpLMD|7259	OMIM|604714;HPO|7259|Abnormality of metabolism/homeostasis, Abnormality of the eye, Abnormality of the voice, Ambiguous genitalia, Ambiguous genitalia, male, Apnea, Autosomal recessive inheritance, Bradycardia, Bronchospasm, Cardiac arrest, Cardiorespiratory arrest, Cryptorchidism, Death in infancy, Dysautonomia, Dysplastic testes, Feeding difficulties in infancy, Gastroesophageal reflux, Growth delay, Hypoplasia of penis, Hyporeflexia, Hypothermia, Laryngospasm, Myoclonus, Ophthalmoplegia, Partial development of the penile shaft, Scrotal hypoplasia, Sleep apnea, Staccato cry, Stridor, Testicular dysgenesis, Tongue fasciculations
U3	PSMB4	0.538424586	0	Ubiquitin proteasome system protein	BrainSpLMD|5692	OMIM|602177
U3	RAP2B	0.534545088	0	GTPase	BrainSpLMD|5912;Eurexp|euxassay_002574|vibrissa	OMIM|179541
U3	SLMO2	0.533513558	0			
U3	CDC42SE2	0.524818157	0	Unclassified	BrainSpLMD|56990	
U3	DNAJA2	0.524345383	0	Chaperone	BrainSpLMD|10294	OMIM|611322
U3	RPS13	0.517190537	0	Ribosomal subunit	BrainSpLMD|6207	OMIM|180476
U3	DHX36	0.515751256	0	RNA binding protein	BrainSpLMD|170506	OMIM|612767
U3	UBE4A	0.498673182	0	Ubiquitin proteasome system protein	BrainSpLMD|9354;Eurexp|euxassay_003317|basal plate, cervical, cervico-thoracic, dorsal root ganglion, epidermal component, facial VII, floor plate, glossopharyngeal IX, mantle layer, thoracic, thymus primordium, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa	OMIM|603753
U3	NRDE2	0.496983253	0	RNA binding protein	BrainSpLMD|55051	
U3	SLC30A4	0.496219765	0	Transport/cargo protein	BrainSpLMD|7782;Eurexp|euxassay_019696|mantle layer	OMIM|602095
U3	PDIA3	0.489342133	0	Enzyme: Isomerase		OMIM|602046
U3	CLASP1	0.487253283	0	Cytoskeletal associated protein	BrainSpLMD|23332	SFARI||Autism, 3 - Suggestive evidence;OMIM|605852
U3	COX7B	0.486865664	0	Enzyme: Oxidase	BrainSpLMD|1349	OMIM|300885;HPO|1349|Abnormal facial shape, Abnormality of retinal pigmentation, Abnormality of the cardiac septa, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Anophthalmia, Aplasia cutis congenita, Arrhythmia, Congenital diaphragmatic hernia, Dermal atrophy, Dilated cardiomyopathy, Erythema, Global developmental delay, Hyperpigmentation of the skin, Hypertelorism, Hypertrophic cardiomyopathy, Hypopigmented skin patches, Mandibular aplasia, Microcephaly, Micrognathia, Microphthalmia, Midface retrusion, Retrognathia, Sclerocornea, Severe short stature, Short chin, Short stature, Vitritis, Wide nasal bridge, Wide nose, X-linked dominant inheritance
U3	DCBLD2	0.484603157	0	Adhesion molecule	BrainSpLMD|131566	OMIM|608698
U3	FGD1	0.483765261	0	Guanine nucleotide exchange factor	BrainSpLMD|2245;Eurexp|euxassay_003476|arm, axial skeleton, incisor, leg, lung, metanephros, molar, paraxial mesenchyme, submandibular gland primordium, upper arm	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300546;HPO|2245|Anteverted nares, Attention deficit hyperactivity disorder, Brachydactyly, Broad foot, Broad forehead, Broad palm, Broad philtrum, Camptodactyly of finger, Cervical spine hypermobility, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Cognitive impairment, Cryptorchidism, Curved linear dimple below the lower lip, Delayed puberty, Downslanted palpebral fissures, Everted lower lip vermilion, External ear malformation, Failure to thrive, Finger syndactyly, High anterior hairline, Hyperextensibility of the finger joints, Hyperextensible skin, Hypermetropia, Hypertelorism, Hypodontia, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Increased upper to lower segment ratio, Inguinal hernia, Intellectual disability, Joint hyperflexibility, Large earlobe, Long philtrum, Low-set, posteriorly rotated ears, Mild short stature, Pectus excavatum, Prominent umbilicus, Ptosis, Radial deviation of finger, Round face, Scoliosis, Shawl scrotum, Short foot, Short neck, Short nose, Short palm, Short stature, Single transverse palmar crease, Small hand, Strabismus, Syndactyly, Umbilical hernia, Wide nasal bridge, Widow's peak, X-linked recessive inheritance
U3	PSMD11	0.478932953	0	Ubiquitin proteasome system protein	BrainSpLMD|5717	OMIM|604449
U3	AP001137.1	0.477911442	0			
U3	THRAP3	0.466140459	0	Transcription regulatory protein	BrainSpLMD|9967	OMIM|603809;COSMIC||aneurysmal bone cyst
U3	ARID4A	0.465198195	0	Transcription regulatory protein	BrainSpLMD|5926	OMIM|180201
U3	RPL9	0.446969919	0	Ribosomal subunit	BrainSpLMD|6133	OMIM|603686
U3	NUMB	0.446599405	0	Unclassified	BrainSpLMD|8650;Eurexp|euxassay_012553|ventricle;BrainSpMouseDev|17989	OMIM|603728
U3	CDC73	0.435851842	0	Unclassified	BrainSpLMD|79577	OMIM|607393;COSMIC||parathyroid adenoma, parathyroid adenoma, multiple ossifying jaw fibroma;HPO|79577|Autosomal dominant inheritance, Chondrocalcinosis, Dysphagia, Elevated circulating parathyroid hormone level, Fatigue, Fibroma, Generalized osteoporosis, Hoarse voice, Hypercalcemia, Hypercalciuria, Hyperparathyroidism, Hyperphosphaturia, Hypophosphatemia, Infantile hypercalcemia, Nephrocalcinosis, Nephrolithiasis, Osteopenia, Osteoporosis, Parathyroid adenoma, Parathyroid carcinoma, Polydipsia, Primary hyperparathyroidism, Shortened QT interval, Somatic mutation, Uterine leiomyoma, Weight loss
U3	GPR22	0.433775808	0	G protein coupled receptor	BrainSpLMD|2845	OMIM|601910
U3	ZNF429	0.427303113	0	DNA binding protein	BrainSpLMD|353088	COSMIC||GBM
U3	LONP2	0.42714426	0	Aminopeptidase	BrainSpLMD|83752	OMIM|617774
U3	PEBP1	0.424416759	0	Protease inhibitor	BrainSpLMD|5037	OMIM|604591
U3	IARS	0.420460129	0	Enzyme: Ligase	BrainSpLMD|3376;Eurexp|euxassay_001939|Meckel's cartilage, cervical, cervico-thoracic, cortex, dorsal root ganglion, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	OMIM|600709;HPO|3376|Autosomal recessive inheritance, Congenital onset, Failure to thrive, Generalized hypotonia, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Microcephaly, Postnatal growth retardation, Variable expressivity
U3	GPN1	0.415148402	0	GTPase	BrainSpLMD|11321;Eurexp|euxassay_003421|sublingual gland primordium, submandibular gland primordium	OMIM|611479
U3	MAP9	0.414488543	0	Unclassified	BrainSpLMD|79884	OMIM|610070
U3	LSAMP	0.410417265	0	Adhesion molecule	BrainSpLMD|4045	OMIM|603241
U3	SLBP	0.40563086	0	RNA binding protein	BrainSpLMD|7884;Eurexp|euxassay_009988|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|602422
U3	ADCY3	0.401712161	0	Adenylate cyclase	BrainSpLMD|109;Eurexp|euxassay_018616|facial VII, olfactory, trigeminal V, ventral grey horn	SFARI||Autism, 3 - Suggestive evidence;OMIM|600291
U3	BZW2	0.40167512	0	Translation regulatory protein	BrainSpLMD|28969	
U3	CDC5L	0.400142115	0	Cell cycle control protein	BrainSpLMD|988	OMIM|602868
U3	LSM3	0.398967924	0	RNA binding protein	BrainSpLMD|27258	OMIM|607283
U3	ZBTB44	0.396419835	0	DNA binding protein	BrainSpLMD|29068	
U3	PRKD3	0.393713274	0	Serine/threonine kinase	BrainSpLMD|23683	OMIM|607077
U3	RARS	0.38946269	0	Enzyme: Ligase	BrainSpLMD|5917	OMIM|107820;HPO|5917|Abnormality of extrapyramidal motor function, Autosomal recessive inheritance, Dysarthria, Dysmetria, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Intellectual disability, Intention tremor, Leukodystrophy, Microcephaly, Nystagmus, Variable expressivity
U3	LINC00632	0.388735791	0			
U3	ARHGAP5	0.388629979	0	GTPase activating protein	BrainSpLMD|394	OMIM|602680;COSMIC||colon cancer, glioma
U3	TEP1	0.388581784	0	RNA binding protein	BrainSpLMD|7011	OMIM|601686
U3	LPIN1	0.376872884	0	Unclassified	BrainSpLMD|23175;Eurexp|euxassay_013747|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, incisor, liver, mantle layer, marginal layer, molar, olfactory, spinal cord, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|605518;HPO|23175|Acute kidney injury, Acute rhabdomyolysis, Areflexia, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Fever, Hyperkalemia, Hyporeflexia, Muscle weakness, Myalgia, Myoglobinuria
U3	RPS27	0.376855571	0	Ribosomal subunit		OMIM|603702;HPO|6232|Abnormality of skin pigmentation, Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Anemia, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Macrocytic anemia, Migraine, Pallor
U3	FAM117B	0.372598427	0	Unclassified	BrainSpLMD|150864	
U3	COL6A1	0.362612151	0	Extracellular matrix protein	BrainSpLMD|1291;BrainSpMouseDev|12616	OMIM|120220;HPO|1291|Abnormality of the cardiovascular system, Abnormality of the palate, Adducted thumb, Ankle contracture, Autosomal dominant inheritance, Autosomal recessive inheritance, Cachexia, Camptodactyly of finger, Congenital muscular dystrophy, Congenital muscular torticollis, Decreased fetal movement, Diaphragmatic weakness, Distal muscle weakness, EMG abnormality, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated serum creatine phosphokinase, Esotropia, Facial palsy, Failure to thrive, Feeding difficulties in infancy, Flexion contracture, Follicular hyperkeratosis, Frequent falls, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, High palate, Hip dislocation, Hyperextensibility at wrists, Hyperhidrosis, Increased endomysial connective tissue, Increased laxity of ankles, Increased laxity of fingers, Increased variability in muscle fiber diameter, Infantile onset, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphosis, Limb-girdle muscle weakness, Long toe, Micrognathia, Mildly elevated creatine phosphokinase, Motor delay, Muscle fiber necrosis, Myopathy, Neonatal hypotonia, Nocturnal hypoventilation, Pes valgus, Progressive, Protruding ear, Proximal muscle weakness, Recurrent lower respiratory tract infections, Respiratory failure, Respiratory insufficiency due to muscle weakness, Round face, Scoliosis, Short neck, Skeletal muscle atrophy, Slender build, Slender finger, Slow progression, Spinal rigidity, Talipes equinovarus, Torticollis, Type 1 muscle fiber predominance, Variable expressivity
U3	NGDN	0.360751805	0	Unclassified	BrainSpLMD|25983	OMIM|610777
U3	JKAMP	0.357959895	0	Integral membrane protein	BrainSpLMD|51528;Eurexp|euxassay_009285|brain, spinal cord, trigeminal V	OMIM|611176
U3	TMEM67	0.356296561	0	Unclassified	BrainSpLMD|91147	OMIM|609884;HPO|91147|Anemia, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Blindness, Breathing dysregulation, Cataract, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cirrhosis, Cleft palate, Coloboma, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Elevated hepatic transaminases, Elongated superior cerebellar peduncle, Encephalocele, Enlarged fossa interpeduncularis, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Heterogeneous, Hyperreflexia, Hypertelorism, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intrahepatic biliary atresia, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Multiple small medullary renal cysts, Muscular hypotonia, Nephronophthisis, Nephropathy, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic nerve coloboma, Polydactyly, Polydipsia, Polyuria, Portal hypertension, Postaxial foot polydactyly, Postaxial hand polydactyly, Ptosis, Renal corticomedullary cysts, Renal insufficiency, Retinal degeneration, Round face, Sclerocornea, Sloping forehead, Spasticity, Splenomegaly, Stage 5 chronic kidney disease, Talipes, Thickened superior cerebellar peduncle, Tubular atrophy, Tubular basement membrane disintegration, Visual impairment, Wide mouth
U3	ZC3H7A	0.352718693	0	DNA binding protein	BrainSpLMD|29066;Eurexp|euxassay_007309|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, mandible, mesenchyme, metatarsus, orbito-sphenoid, pelvic girdle, petrous part, phalanx, turbinate, vault of skull	
U3	CKAP5	0.350237796	0	Cytoskeletal associated protein	BrainSpLMD|9793;Eurexp|euxassay_011048|cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, molar, olfactory, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|611142
U3	EPHA4	0.336098862	0	Receptor tyrosine kinase	BrainSpLMD|2043;BrainSpMouseDev|13616	OMIM|602188;HPO|2043|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
U3	TROVE2	0.325335726	0	RNA binding protein	BrainSpLMD|6738	OMIM|600063
U3	RPL31	0.319036885	0	Ribosomal subunit	BrainSpLMD|6160	OMIM|617415
U3	CAMLG	0.318426273	0	Membrane bound ligand	BrainSpLMD|819;Eurexp|euxassay_001896|dorsal root ganglion, trigeminal V	OMIM|601118
U3	TMEM161B.AS1	0.316204668	0			
U3	TMOD3	0.311825881	0	Cytoskeletal associated protein	BrainSpLMD|29766;Eurexp|euxassay_005515|clavicle, mandible, maxilla, orbito-sphenoid, rib	OMIM|605112
U3	GID8	0.308117026	0	Unclassified	BrainSpLMD|54994	OMIM|611625
U3	PRKRA	0.301240432	0	RNA binding protein	BrainSpLMD|8575	OMIM|603424;HPO|8575|Abnormal pyramidal signs, Autosomal recessive inheritance, Bradykinesia, Delayed speech and language development, Dysarthria, Dysphagia, Gait disturbance, Hyperreflexia, Laryngeal dystonia, Limb dystonia, Lower limb pain, Morphological abnormality of the pyramidal tract, Motor delay, Parkinsonism, Postural tremor, Progressive, Retrocollis
U3	NPM1	0.29934167	0	Chaperone	BrainSpLMD|4869;Eurexp|euxassay_005708|embryo	OMIM|164040;COSMIC||NHL, APL, AML
U3	EDEM1	0.297344431	0	Unclassified	BrainSpLMD|9695	OMIM|607673
U3	NXF1	0.281371474	0	RNA binding protein	BrainSpLMD|10482	OMIM|602647
U3	CACUL1	0.264791042	0	Unclassified	BrainSpLMD|143384	
U3	CNIH1	0.259258674	0	Integral membrane protein	BrainSpLMD|10175	OMIM|611287
U3	AEBP2	0.256937663	0	DNA binding protein	BrainSpLMD|121536;Eurexp|euxassay_014332|footplate, handplate, thymus primordium, ventricular layer;BrainSpMouseDev|11356	
U3	ODF2L	0.255126478	0	Unclassified	BrainSpLMD|57489	
U3	GLG1	0.254719211	0	Integral membrane protein	BrainSpLMD|2734	OMIM|600753
U3	AGO2	0.251985841	0	Translation regulatory protein	BrainSpLMD|27161	OMIM|606229
U3	TMTC2	3.00529983	1.11E-16	Integral membrane protein	BrainSpLMD|160335;Eurexp|euxassay_011308|axial skeleton, bladder, brain, capsule, clavicle, cornea, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, hindgut, mandible, maxilla, midgut, oesophagus, olfactory, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, rib, skeletal muscle, spinal cord, stomach, tibia, trigeminal V, ureter, vagus X, valve, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|615856
U3	RP11.395P17.3	2.891342408	1.11E-16			
U3	RNPEP	2.651270168	1.11E-16	Aminopeptidase	BrainSpLMD|6051	OMIM|602675
U3	SET	2.399153055	1.11E-16	MHC complex protein	BrainSpLMD|6418;Eurexp|euxassay_006723|embryo	OMIM|600960;COSMIC||T-ALL
U3	RAD54L2	2.244051353	1.11E-16	DNA binding protein	BrainSpLMD|23132	
U3	GOLGA8A	1.945155189	1.11E-16	Unclassified	BrainSpLMD|23015	OMIM|616180
U3	FBXO22	1.824864922	1.11E-16	Ubiquitin proteasome system protein	BrainSpLMD|26263	OMIM|609096
U3	BUD31	1.309533253	1.11E-16	Transcription regulatory protein	BrainSpLMD|8896	OMIM|603477
U3	TMSB10	1.195811789	1.11E-16	Cytoskeletal associated protein	BrainSpLMD|9168	OMIM|188399
U3	FKBP3	1.017905052	1.11E-16	Enzyme: Isomerase	BrainSpLMD|2287	OMIM|186947
U3	SEC23B	0.995497863	1.11E-16	Transport/cargo protein	BrainSpLMD|10483	OMIM|610512;HPO|10483|Abnormality of the penis, Adenoma sebaceum, Anemia of inadequate production, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast carcinoma, Cavernous hemangioma, Cholelithiasis, Cognitive impairment, Colorectal polyposis, Conjunctival hamartoma, Ductal carcinoma in situ, Endopolyploidy on chromosome studies of bone marrow, Furrowed tongue, Generalized hyperkeratosis, Global developmental delay, Goiter, Hamartomatous polyposis, Hashimoto thyroiditis, Hemangioma, Intellectual disability, Intestinal polyposis, Jaundice, Lipoma, Macrocephaly, Macroglossia, Macule, Melanocytic nevus, Meningioma, Mucosal telangiectasiae, Palmoplantar keratoderma, Papilloma, Papule, Reduced activity of N-acetylglucosaminyltransferase II, Reticulocytosis, Splenomegaly, Subcutaneous nodule, Trichilemmoma
U3	IRGQ	0.954882194	1.11E-16	Unclassified		
U3	YME1L1	0.823042051	1.11E-16	Metallo protease	BrainSpLMD|10730	OMIM|607472;HPO|10730|Amblyopia, Autosomal recessive inheritance, Brain atrophy, Cerebellar hypoplasia, Dysmetria, Facial diplegia, Global developmental delay, Hyperactivity, Hyperkinesis, Hypermetropia, Infantile onset, Intellectual disability, Leukoencephalopathy, Macrocephaly, Macrotia, Microcephaly, Midface retrusion, Myopia, Optic atrophy, Short stature, Strabismus, Visual impairment
U3	HERC4	0.708448374	1.11E-16	Ubiquitin proteasome system protein	BrainSpLMD|26091	OMIM|609248
U3	HNRNPLL	0.676076243	1.11E-16	RNA binding protein	BrainSpLMD|92906	OMIM|611208
U3	SF3A3	0.662952131	1.11E-16	RNA binding protein	BrainSpLMD|10946	OMIM|605596
U3	USP22	0.567016833	1.11E-16	Unclassified	Eurexp|euxassay_000296|alar plate, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral wall, lens, medulla oblongata, meninges, metencephalon, neural retina, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612116
U3	LIMCH1	0.552033663	1.11E-16	Unclassified	BrainSpLMD|22998	OMIM|617750
U3	STT3A	0.334141578	1.11E-16	Integral membrane protein	BrainSpLMD|3703;Eurexp|euxassay_004591|clavicle, mandible, maxilla, orbito-sphenoid, rib, turbinate bones	OMIM|601134;HPO|3703|Abnormal glycosylation, Autosomal recessive inheritance, Cerebellar atrophy, Congenital onset, Cryptorchidism, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Impaired smooth pursuit, Intellectual disability, Microcephaly, Micropenis, Scrotal hypoplasia, Seizures
U3	PEAR1	4.594854332	2.22E-16	Integral membrane protein		OMIM|610278
U3	AASS	2.663523286	2.22E-16	Enzyme: Oxidoreductase;Enzyme: Synthase	BrainSpLMD|10157	OMIM|605113;HPO|10157|Abnormality of the genitourinary system, Anemia, Autosomal recessive inheritance, Cognitive impairment, Delayed speech and language development, EEG abnormality, Ectopia lentis, Histidinuria, Hyperactivity, Hyperlysinemia, Hyperlysinuria, Infantile onset, Intellectual disability, Intellectual disability, mild, Muscular hypotonia, Phenotypic variability, Seizures, Short attention span, Short stature, Spastic diplegia
U3	TOB1	2.535814794	2.22E-16	Adapter molecule	BrainSpLMD|10140	OMIM|605523
U3	AXL	1.623399537	2.22E-16	Receptor tyrosine kinase	BrainSpLMD|558;Eurexp|euxassay_001756|cardiovascular system, gland, head mesenchyme, integumental system, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|26110	OMIM|109135;HPO|558|Autosomal dominant inheritance, Autosomal recessive inheritance, Cryptorchidism, Decreased testicular size, Gynecomastia, Hypogonadotrophic hypogonadism, Micropenis, Primary amenorrhea, Sparse axillary hair, Sparse pubic hair
U3	SKIL	1.244210723	2.22E-16	Unclassified	BrainSpLMD|6498	OMIM|165340
U3	AHCTF1	1.192495886	2.22E-16	Transcription factor	BrainSpLMD|25909;BrainSpMouseDev|86466	OMIM|610853
U3	SGPL1	1.037208289	2.22E-16	Enzyme: Lyase	BrainSpLMD|8879;Eurexp|euxassay_009987|mantle layer, mesenchyme, metanephros, olfactory, renal/urinary system, thymus primordium	OMIM|603729
U3	GTF3C3	0.937890295	2.22E-16	Transcription factor	BrainSpLMD|9330;Eurexp|euxassay_015986|testis	OMIM|604888
U3	EXOSC6	0.77881191	2.22E-16	Ribonuclease	BrainSpLMD|118460;Eurexp|euxassay_013513|submandibular gland primordium	OMIM|606490
U3	SMC4	0.767850138	2.22E-16	Structural protein	BrainSpLMD|10051;Eurexp|euxassay_017379|incisor, liver, lung, metanephros, molar, neural retina, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|605575
U3	RAD21	0.613946202	2.22E-16	DNA binding protein	BrainSpLMD|5885	OMIM|606462;COSMIC||AML, endometrium, colorectal, lung, Cornelia de Lange syndrome-4;HPO|5885|Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Clinodactyly of the 5th finger, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downturned corners of mouth, Elbow dislocation, Exostoses, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phenotypic variability, Phthisis bulbi, Premature birth, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Smooth philtrum, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Vesicoureteral reflux, Wide nasal bridge, Widely spaced teeth
U3	SLC12A2	0.606569803	2.22E-16	Membrane transport protein	BrainSpLMD|6558;Eurexp|euxassay_008837|cortex, incisor, left lung, midgut, olfactory, pharyngo-tympanic tube, rectum, right lung, stomach, submandibular gland primordium;BrainSpMouseDev|20258	OMIM|600840
U3	SULT1C4	0.599940538	2.22E-16	Enzyme: Sulphotransferase	BrainSpLMD|27233	OMIM|608357
U3	GKAP1	0.540970279	2.22E-16	Anchor protein	BrainSpLMD|80318	OMIM|611356
U3	SMU1	0.360367437	2.22E-16	Unclassified	BrainSpLMD|55234	
U3	RP11.386J22.3	0.331525813	2.22E-16			
U3	TRIM13	0.290570256	2.22E-16	Unclassified	BrainSpLMD|10206	OMIM|605661
U3	MCM7	1.964927878	3.33E-16	Unclassified;DNA helicase	BrainSpLMD|4176;Eurexp|euxassay_018019|embryo	OMIM|600592
U3	TMEM242	1.924984334	3.33E-16		BrainSpLMD|729515	
U3	TARBP1	1.807587675	3.33E-16	RNA binding protein	BrainSpLMD|6894	OMIM|605052
U3	FOXO3	1.677084988	3.33E-16	Transcription factor	BrainSpLMD|2309;Eurexp|euxassay_019517|hindgut, liver, lung, midgut, stomach, submandibular gland primordium, thymus primordium, vibrissa;BrainSpMouseDev|35764	OMIM|602681;COSMIC||AL
U3	UBR3	1.498084766	3.33E-16	Unclassified	BrainSpLMD|130507;Eurexp|euxassay_007551|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613831
U3	TRNAU1AP	1.391559402	4.44E-16	RNA binding protein	BrainSpLMD|54952;Eurexp|euxassay_006810|embryo	
U3	GTF2A2	0.484448516	4.44E-16	Transcription factor	BrainSpLMD|2958	OMIM|600519
U3	CTNNB1	2.127269413	5.55E-16	Adhesion molecule	BrainSpLMD|1499;BrainSpMouseDev|12172	SFARI||Autism, 3 - Suggestive evidence;OMIM|116806;COSMIC||colorectal, ovarian, hepatoblastoma, pleomorphic salivary gland adenoma, other tumour types;HPO|1499|Abdominal pain, Abnormal hypothalamus morphology, Abnormal visual field test, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Autosomal dominant inheritance, Autosomal recessive inheritance, Bitemporal hemianopia, Breast carcinoma, Central adrenal insufficiency, Central diabetes insipidus, Cerebral calcification, Desmoid tumors, Dysgerminoma, Elevated alpha-fetoprotein, Enlarged pituitary gland, Epigastric pain, Excessive daytime somnolence, Fatigue, Generalized hypotonia, Global developmental delay, Headache, Hepatic fibrosis, Hepatic necrosis, Hepatocellular carcinoma, Hepatomegaly, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hypogonadotrophic hypogonadism, Hypoplasia of the corpus callosum, Incomplete penetrance, Infantile onset, Intellectual disability, Intestinal polyposis, Intracranial cystic lesion, Long philtrum, Malabsorption, Medulloblastoma, Microcephaly, Micronodular cirrhosis, Myalgia, Nausea and vomiting, Neoplasm of the anterior pituitary, Neoplasm of the stomach, Neurological speech impairment, Obesity, Ovarian papillary adenocarcinoma, Papilledema, Pilomatrixoma, Pituitary hypothyroidism, Portal vein thrombosis, Progressive visual field defects, Prolactin excess, Renal cell carcinoma, Slow decrease in visual acuity, Somatic mutation, Spastic diplegia, Strabismus, Subacute progressive viral hepatitis, Subcutaneous nodule, Thin upper lip vermilion, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Vomiting
U3	PAN3	2.075223655	5.55E-16	Ribonuclease	BrainSpLMD|255967	OMIM|617448
U3	FAM32A	1.958363555	5.55E-16	Unclassified	BrainSpLMD|26017	OMIM|614554
U3	STK38	0.494997256	5.55E-16	Serine/threonine kinase	BrainSpLMD|11329;Eurexp|euxassay_018750|mantle layer, naris, olfactory, respiratory, ventral grey horn	OMIM|606964
U3	GPC3	2.362800731	6.66E-16	Integral membrane protein	BrainSpLMD|2719;Eurexp|euxassay_001524|cardiovascular system, choroid plexus, gland, integumental system, lateral recess, skeleton, tail, visceral organ;BrainSpMouseDev|14510	OMIM|300037;COSMIC||Wilms tumour;HPO|2719|2-3 finger syndactyly, Abdominal pain, Abnormal lung lobation, Abnormality of the helix, Abnormality of the ribs, Accelerated skeletal maturation, Agenesis of corpus callosum, Anteverted nares, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Birth length greater than 97th percentile, Broad foot, Broad palm, Broad secondary alveolar ridge, Broad thumb, Broad toe, Bundle branch block, Camptodactyly of finger, Cardiomyopathy, Cerebellar vermis hypoplasia, Cervical ribs, Cleft palate, Clinodactyly of the 5th finger, Coarse facial features, Congenital diaphragmatic hernia, Cryptorchidism, Death in infancy, Dental malocclusion, Depressed nasal bridge, Diastasis recti, Downslanted palpebral fissures, Duplication of renal pelvis, Enlarged kidney, Epicanthus, Finger syndactyly, Flared iliac wings, Generalized hypotonia, Hearing impairment, Hepatomegaly, Heterogeneous, High, narrow palate, Hydrocephalus, Hydronephrosis, Hydroureter, Hypertelorism, Hypoglycemia, Hypospadias, Increased IgE level, Inguinal hernia, Intestinal malrotation, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Mandibular prognathia, Meckel diverticulum, Multicystic kidney dysplasia, Nail dysplasia, Narrow sacroiliac notch, Nephroblastoma, Neurological speech impairment, Omphalocele, Pancreatic islet-cell hyperplasia, Patent ductus arteriosus, Pectus excavatum, Polyhydramnios, Polysplenia, Postaxial hand polydactyly, Posterior helix pit, Preauricular pit, Preauricular skin tag, Prolonged QT interval, Pulmonic stenosis, Renal cyst, Scoliosis, Short 2nd finger, Short distal phalanx of finger, Short foot, Short neck, Short nose, Short palm, Short sacroiliac notch, Short toe, Six lumbar vertebrae, Small nail, Somatic mutation, Splenomegaly, Submucous cleft lip, Supernumerary nipple, Talipes equinovarus, Tall stature, Toe syndactyly, Transposition of the great arteries, Two carpal ossification centers present at birth, Umbilical hernia, Ureteral duplication, Ventricular septal defect, Vertebral fusion, Vertebral segmentation defect, Webbed neck, Wide mouth, Wide nasal bridge, X-linked recessive inheritance
U3	SNHG15	0.597751947	6.66E-16			
U3	KPNA2	0.434701715	6.66E-16	Transport/cargo protein	BrainSpLMD|3838	OMIM|600685
U3	KLHL7	0.30459446	6.66E-16	Unclassified	BrainSpLMD|55975;Eurexp|euxassay_011530|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611119;HPO|55975|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Pallor, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
U3	SPAG9	0.627258308	7.77E-16	Integral membrane protein	BrainSpLMD|9043;Eurexp|euxassay_014482|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vestibulocochlear VIII	OMIM|605430
U3	SERGEF	2.254674073	8.88E-16	Guanine nucleotide exchange factor	BrainSpLMD|26297;Eurexp|euxassay_001466|brain, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, oesophagus, spinal cord, thoracic, trigeminal V, vagus X	OMIM|606051
U3	TMTC3	1.925520824	8.88E-16	Unclassified	BrainSpLMD|160418	OMIM|617218;HPO|160418|Autosomal recessive inheritance, Global developmental delay, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Infantile onset, Intellectual disability, Muscular hypotonia of the trunk, Optic atrophy, Polymicrogyria, Seizures, Ventriculomegaly
U3	BANF1	0.654541841	8.88E-16	DNA binding protein	BrainSpLMD|8815	OMIM|603811;HPO|8815|Abnormality of the forearm, Abnormality of the ribs, Atherosclerosis, Autosomal recessive inheritance, Convex nasal ridge, Delayed closure of the anterior fontanelle, Dental crowding, Failure to thrive, Flexion contracture, Joint stiffness, Lipoatrophy, Malar flattening, Micrognathia, Midface retrusion, Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Progressive clavicular acroosteolysis, Proptosis, Pulmonary arterial hypertension, Right bundle branch block, Scoliosis, Short stature, Sinus tachycardia, Sparse and thin eyebrow, Sparse eyelashes, Spotty hyperpigmentation, Wide cranial sutures
U3	JTB	1.907103813	9.99E-16	Integral membrane protein	BrainSpLMD|10899	OMIM|604671
U3	CTNND1	0.963856803	9.99E-16	Adhesion molecule	BrainSpLMD|1500;BrainSpMouseDev|12173	OMIM|601045;COSMIC||large intestine carcinoma
U3	RPS16	0.642630589	1.11E-15	Ribosomal subunit	BrainSpLMD|6217	OMIM|603675
U3	RNF168	0.544224084	1.44E-15	Transcription regulatory protein	BrainSpLMD|165918	OMIM|612688;HPO|165918|Abnormal facial shape, Ataxia, Autosomal recessive inheritance, Dry skin, IgG deficiency, Immunodeficiency, Increased sensitivity to ionizing radiation, Mild global developmental delay, Short stature
U3	ST13	0.265731556	1.44E-15	Adapter molecule	BrainSpLMD|6767	OMIM|606796
U3	GDE1	0.80134228	1.55E-15	Anchor protein	BrainSpLMD|51573;Eurexp|euxassay_003384|bladder, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, left lung, loop, midgut, neural retina, olfactory, rectum, respiratory, right lung, stomach, stroma, thoracic, trigeminal V, urethra, vagus X, vestibulocochlear VIII	OMIM|605943
U3	CERS5	0.630470848	1.55E-15	Transcription regulatory protein	BrainSpLMD|91012;BrainSpMouseDev|47790	OMIM|615335
U3	HUWE1	0.572237405	1.55E-15	DNA binding protein	BrainSpLMD|10075	SFARI||Autism, No category;OMIM|300697;HPO|10075|Coarse facial features, Delayed speech and language development, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Intellectual disability, severe, Limited elbow extension, Macrocephaly, Tapered finger, X-linked inheritance
U3	CDC42	1.638849409	1.67E-15	GTPase	BrainSpLMD|998;BrainSpMouseDev|12325	OMIM|116952
U3	C6orf62	0.455062891	1.67E-15	Unclassified	BrainSpLMD|81688	
U3	SEC22B	0.992412824	1.78E-15	Integral membrane protein	BrainSpLMD|9554	OMIM|604029
U3	CNTN3	0.267948742	1.78E-15	Immunoglobulin	Eurexp|euxassay_009023|mantle layer, marginal layer, ventral grey horn;BrainSpMouseDev|18254	SFARI||Autism, No category;OMIM|601325
U3	BTF3	2.103206511	1.89E-15	Transcription factor	BrainSpLMD|689;Eurexp|euxassay_019495|clavicle, hindgut, incisor, liver, lung, metanephros, midgut, molar, oesophagus, pancreas, pharyngo-tympanic tube, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa;BrainSpMouseDev|85373	OMIM|602542
U3	CTR9	1.379085275	1.89E-15	Transcription regulatory protein	BrainSpLMD|9646	OMIM|609366
U3	PPP2R5D	1.241491085	1.89E-15	Serine/threonine phosphatase	BrainSpLMD|5528	SFARI||Autism, 4 - Minimal evidence;OMIM|601646;HPO|5528|Autosomal dominant inheritance, Chronic diarrhea, Congenital hip dislocation, Congenital muscular torticollis, Deeply set eye, Downslanted palpebral fissures, Facial hypotonia, Generalized hypotonia, Global developmental delay, Hydrocephalus, Hypertelorism, Hypoglycemia, Intellectual disability, Macrocephaly, Myopia, Narrow forehead, Open mouth, Pyloric stenosis, Seizures, Strabismus, Ventriculomegaly
U3	PLOD2	1.320130077	2.00E-15	Enzyme: Hydroxylase	BrainSpLMD|5352;Eurexp|euxassay_008722|axial skeleton, basisphenoid bone, clavicle, exoccipital bone, mesenchyme, nasal septum, otic capsule, petrous part, rib, sternum, tongue, trachea, turbinate	OMIM|601865;HPO|5352|Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Elbow flexion contracture, Femoral bowing, Flexion contracture, Hydroxyprolinuria, Increased susceptibility to fractures, Inguinal hernia, Joint stiffness, Knee flexion contracture, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes equinovarus, Triangular face, Wormian bones
U3	CTTN	0.81501386	2.22E-15	Cytoskeletal associated protein	BrainSpLMD|2017	OMIM|164765
U3	RP11.358L22.3	2.812286207	2.33E-15			
U3	HSPA9	1.042131662	2.44E-15	Chaperone	BrainSpLMD|3313	OMIM|600548;HPO|3313|Agenesis of corpus callosum, Atopic dermatitis, Autosomal dominant inheritance, Autosomal recessive inheritance, Brachycephaly, Coronal cleft vertebrae, Dysplasia of the femoral head, Epiphyseal dysplasia, High palate, Highly arched eyebrow, Hypodontia, Midface retrusion, Oligohydramnios, Patent foramen ovale, Recurrent urinary tract infections, Renal hypoplasia, Severe short stature, Short neck, Short nose, Sideroblastic anemia, Sparse hair
U3	CHP1	2.810518533	2.89E-15		BrainSpLMD|11261	OMIM|606988
U3	RRP15	1.276292408	3.55E-15	Unclassified	BrainSpLMD|51018	OMIM|611193
U3	HADHB	1.12963632	3.77E-15	Enzyme: Dehydrogenase	BrainSpLMD|3032	OMIM|143450;HPO|3032|Abnormality of the amniotic fluid, Autosomal recessive inheritance, Congestive heart failure, Dilated cardiomyopathy, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Generalized muscle weakness, Global developmental delay, Hydrops fetalis, Hyperammonemia, Hypoketotic hypoglycemia, Lactic acidosis, Myalgia, Myoglobinuria, Peripheral neuropathy, Prenatal maternal abnormality, Respiratory failure, Rhabdomyolysis, Small for gestational age
U3	ZNF638	0.378783275	3.77E-15	DNA binding protein	BrainSpLMD|27332	OMIM|614349
U3	RBM4B	0.488416876	3.89E-15	RNA binding protein	BrainSpLMD|83759	
U3	SLC25A26	1.395008557	4.33E-15	Membrane transport protein	BrainSpLMD|115286	OMIM|611037;HPO|115286|Abdominal pain, Autosomal recessive inheritance, Congestive heart failure, Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Decreased fetal movement, Fatigue, Global developmental delay, Increased serum lactate, Infantile onset, Muscle weakness, Polyhydramnios, Poor appetite, Ragged-red muscle fibers, Respiratory failure, Severe lactic acidosis, Variable expressivity
U3	MGEA5	0.708800465	4.33E-15	Enzyme: Hydrolase	BrainSpLMD|10724	OMIM|604039
U3	MIER1	1.020175691	4.66E-15	Transcription regulatory protein	BrainSpLMD|57708	OMIM|616848
U3	MTPAP	1.248537688	4.77E-15	RNA polymerase	BrainSpLMD|55149;Eurexp|euxassay_002898|lobe	OMIM|613669;HPO|55149|Autosomal recessive inheritance, Babinski sign, Delayed speech and language development, Dysarthria, Hyporeflexia, Nystagmus, Optic atrophy, Slow progression, Spastic ataxia, Spastic paraparesis
U3	PSMA7	2.6275205	5.00E-15	Ubiquitin proteasome system protein	BrainSpLMD|5688	OMIM|606607
U3	HMGA2	2.637877851	5.22E-15	Transcription factor	BrainSpLMD|8091;Eurexp|euxassay_003865|axial skeleton, cochlea, cortex, fibula, handplate, hindgut, humerus, lung, metanephros, metatarsus, midgut, oesophagus, pancreas, pelvic girdle, phalanx, pituitary, rib, stomach, sublingual gland primordium, thymus primordium, thyroid, tibia, trachea, turbinate bones, ventricular layer;BrainSpMouseDev|15139	OMIM|600698;COSMIC||lipoma, leiomyoma, pleomorphic salivary gland adenoma;HPO|8091|Autosomal dominant inheritance, Delayed speech and language development, Failure to thrive, Global developmental delay, Hyperpigmentation of the skin, Hypertelorism, Intellectual disability, mild, Intrauterine growth retardation, Osteopoikilosis, Short stature, Somatic mutation, Specific learning disability, Subcutaneous nodule, Tremor, Uterine leiomyoma
U3	CCT6A	1.772634536	5.33E-15	Chaperone	BrainSpLMD|908	OMIM|104613
U3	EBAG9	1.107654887	5.66E-15	Membrane bound ligand	BrainSpLMD|9166	OMIM|605772
U3	CRABP1	2.088002233	6.11E-15	Transport/cargo protein	BrainSpLMD|1381	OMIM|180230
U3	NANS	2.674472468	6.66E-15	Enzyme: Synthase	BrainSpLMD|54187;Eurexp|euxassay_012123|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, metatarsus, naris, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rest of skin, rib, scapula, tarsus, tibia, turbinate bones, vault of skull	OMIM|605202;HPO|54187|Abnormality of the pinna, Abnormality of the skin, Ataxia, Autosomal recessive inheritance, Brachycephaly, Carpal bone hypoplasia, Coarse facial features, Epicanthus, Flared metaphysis, Flat acetabular roof, Generalized hypotonia, Hirsutism, Intellectual disability, severe, Irregular epiphyses, Irregular vertebral endplates, Long fibula, Low anterior hairline, Low posterior hairline, Metaphyseal irregularity, Microcephaly, Narrow iliac wings, Nystagmus, Platyspondyly, Posterior scalloping of vertebral bodies, Prominent forehead, Short femoral neck, Short neck, Small epiphyses, Spondyloepimetaphyseal dysplasia, Synophrys, Thick lower lip vermilion, Wide nose
U3	ZIC2	3.541972667	6.88E-15	Transcription regulatory protein	BrainSpLMD|7546;BrainSpMouseDev|22529	OMIM|603073;HPO|7546|Abnormal facial shape, Autosomal dominant inheritance, Global developmental delay, Holoprosencephaly, Hydrocephalus, Intellectual disability, Microcephaly, Synophrys, Trigonocephaly
U3	UCK2	1.634639825	6.88E-15	Enzyme: Phosphotransferase	BrainSpLMD|7371;Eurexp|euxassay_002578|axial muscle, incisor, neural retina, orbito-sphenoid, pectoral girdle and thoracic body wall, stroma, submandibular gland primordium, thymus primordium, vibrissa	OMIM|609329
U3	RIT1	2.837680448	7.33E-15	GTPase	BrainSpLMD|6016;Eurexp|euxassay_012013|Meckel's cartilage, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, orbito-sphenoid, petrous part, rib, scapula, tibia, turbinate	OMIM|609591;HPO|6016|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of the spleen, Abnormality of the sternum, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Coarse hair, Cryptorchidism, Curly hair, Cystic hygroma, Delayed skeletal maturation, Downslanted palpebral fissures, Dysarthria, Enlarged thorax, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Hepatomegaly, High forehead, High palate, Hyperkeratosis, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadotrophic hypogonadism, Joint hyperflexibility, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Micrognathia, Midface retrusion, Muscle weakness, Muscular hypotonia, Pectus carinatum, Pectus excavatum, Polyhydramnios, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Relative macrocephaly, Scoliosis, Short neck, Short stature, Strabismus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Triangular face, Ventricular septal defect, Webbed neck, Wide intermamillary distance
U3	ANKRD11	1.072998336	7.33E-15	Transcription regulatory protein	BrainSpLMD|29123	SFARI||Autism, 2 - Strong candidate;OMIM|611192;HPO|29123|Anteverted nares, Autism, Autosomal dominant inheritance, Cervical ribs, Clinodactyly, Colpocephaly, Cryptorchidism, Delayed skeletal maturation, Frontal bossing, Global developmental delay, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Intellectual disability, moderate, Long palpebral fissure, Long philtrum, Low anterior hairline, Low posterior hairline, Macrodontia, Macrotia, Microcephaly, Micrognathia, Oligodontia, Optic nerve hypoplasia, Periventricular gray matter heterotopia, Pointed chin, Protruding ear, Radial deviation of finger, Rib fusion, Round face, Seizures, Short stature, Single transverse palmar crease, Smooth philtrum, Syndactyly, Telecanthus, Thick eyebrow, Thoracic kyphosis, Triangular face, Underdeveloped nasal alae, Ventriculomegaly, Vertebral arch anomaly, Vertebral fusion, Wide mouth, Widely-spaced maxillary central incisors
U3	RBM25	0.312765182	8.55E-15	RNA binding protein	BrainSpLMD|58517	OMIM|612427
U3	CASP2	1.607527655	8.88E-15	Cysteine protease	BrainSpLMD|835	OMIM|600639
U3	PPP3CA	0.655034937	1.02E-14	Serine/threonine phosphatase	BrainSpLMD|5530;Eurexp|euxassay_002802|dorsal root ganglion, glossopharyngeal IX, trigeminal V;BrainSpMouseDev|18818	OMIM|114105
U3	KCNQ1OT1	2.075361011	1.05E-14			OMIM|604115;HPO|10984|Abnormality of the dentition, Accelerated skeletal maturation, Adrenocortical carcinoma, Adrenocortical cytomegaly, Asymmetry of the thorax, Autosomal dominant inheritance, Cardiomegaly, Cardiomyopathy, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Diastasis recti, Enlarged kidney, Facial asymmetry, Gonadoblastoma, Hemihypertrophy, Hepatoblastoma, Hepatomegaly, Intellectual disability, mild, Large fontanelles, Macroglossia, Midface retrusion, Neonatal hypoglycemia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Omphalocele, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Posterior helix pit, Prominent metopic ridge, Prominent occiput, Proptosis, Renal cortical cysts, Scoliosis, Vesicoureteral reflux
U3	PHYKPL	0.401650934	1.08E-14	Unclassified	BrainSpLMD|85007	OMIM|614683
U3	ICT1	2.664192066	1.09E-14			
U3	GMPS	1.242235395	1.14E-14	Enzyme: Amidinotransferase	BrainSpLMD|8833	OMIM|600358;COSMIC||AML
U3	CASC3	1.66669954	1.20E-14	Unclassified	BrainSpLMD|22794	OMIM|606504
U3	CBFA2T2	1.868743912	1.21E-14	Transcription factor	BrainSpLMD|9139;Eurexp|euxassay_019496|lung, marginal layer, neural retina, olfactory, pituitary, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|12181	OMIM|603672
U3	RBX1	1.143474215	1.38E-14	Ubiquitin proteasome system protein	BrainSpLMD|9978	OMIM|603814
U3	DOCK5	3.455011337	1.65E-14	Unclassified	BrainSpLMD|80005;Eurexp|euxassay_014244|cortex	OMIM|616904
U3	AC010677.5	0.433789641	1.70E-14			
U3	PDZD8	2.351595024	1.72E-14	Unclassified	BrainSpLMD|118987	OMIM|614235
U3	CTC.542B22.2	1.176336799	1.81E-14			
U3	SNORD14E	3.110920718	1.92E-14			
U3	GATAD1	0.989495125	1.92E-14	Transcription regulatory protein	BrainSpLMD|57798;BrainSpMouseDev|43053	OMIM|614518;HPO|57798|Autosomal recessive inheritance, Congestive heart failure, Dilated cardiomyopathy
U3	TRPS1	1.968447526	2.00E-14	Transcription factor	BrainSpLMD|7227;Eurexp|euxassay_011487|axial skeleton, basioccipital bone, basisphenoid bone, bladder, clavicle, cornea, cricoid, diaphragm, dorsal grey horn, exoccipital bone, femur, humerus, knee, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, rib, skeletal muscle, sternum, stomach, submandibular gland primordium, thyroid, tongue, trachea, ureter, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|58142	OMIM|604386;HPO|7227|Abnormality of the nervous system, Abnormally low-pitched voice, Accelerated bone age after puberty, Aplasia/Hypoplasia of the mandible, Arthralgia, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Bone pain, Bulbous nose, Camptodactyly of finger, Carious teeth, Chin with horizontal crease, Clinodactyly of the 5th finger, Concave nail, Cone-shaped epiphyses of the middle phalanges of the hand, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphyses of the proximal phalanges of the hand, Cone-shaped epiphysis, Coxa magna, Deep philtrum, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Fine hair, Flat capital femoral epiphysis, Fragile nails, Frontal bossing, Generalized hypotonia, High palate, Hyperlordosis, Increased number of teeth, Infantile muscular hypotonia, Intellectual disability, Ivory epiphyses of the distal phalanges of the hand, Joint dislocation, Joint hyperflexibility, Leukonychia, Long philtrum, Long upper lip, Low-set, posteriorly rotated ears, Macrotia, Microdontia, Micrognathia, Multiple long-bone exostoses, Muscular hypotonia, Narrow palate, Osteoarthritis, Osteopenia, Pear-shaped nose, Pectus carinatum, Pes planus, Protruding ear, Recurrent respiratory infections, Redundant skin, Scapular winging, Scoliosis, Short distal phalanx of finger, Short finger, Short foot, Short metacarpal, Short metatarsal, Short palm, Short phalanx of finger, Short stature, Shortening of all phalanges of fingers, Slow-growing hair, Smooth philtrum, Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Sparse lateral eyebrow, Sparse scalp hair, Swelling of proximal interphalangeal joints, Thick eyebrow, Thin eyebrow, Thin nail, Thin upper lip vermilion, Triangular face, Underdeveloped nasal alae
U3	PHRF1	1.38816712	2.10E-14	Unclassified		SFARI||Autism, 3 - Suggestive evidence;OMIM|611780
U3	UBE2E1	1.456075084	2.13E-14	Ubiquitin proteasome system protein	BrainSpLMD|7324;Eurexp|euxassay_003420|bladder, cervical, cervico-thoracic, clavicle, cortex, cranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, left lung, molar, naris, olfactory, orbito-sphenoid, pharyngo-tympanic tube, respiratory, right lung, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|602916
U3	AFF4	0.542420851	2.20E-14	Transcription factor	BrainSpLMD|27125	SFARI||Autism, 6 - Evidence does not support role;OMIM|604417;COSMIC||ALL;HPO|27125|Abnormality of the cardiac septa, Aspiration pneumonia, Autosomal dominant inheritance, Brachydactyly, Chronic lung disease, Coarse facial features, Congenital onset, Cryptorchidism, Downturned corners of mouth, Gastroesophageal reflux, Global developmental delay, Hypertelorism, Intellectual disability, Laryngomalacia, Long eyelashes, Obesity, Patent ductus arteriosus, Proptosis, Round face, Short nose, Short stature, Thick eyebrow, Thick hair, Tracheal stenosis, Vesicoureteral reflux
U3	PPP2R5C	1.052408514	2.29E-14	Enzyme regulator	BrainSpLMD|5527	OMIM|601645
U3	NME1	0.771098462	2.33E-14	Enzyme: Phosphotransferase	BrainSpLMD|4830	OMIM|156490;HPO|4830|Abdominal pain, Abnormality of the thorax, Anemia, Ataxia, Autosomal dominant inheritance, Bone pain, Diarrhea, Elevated urinary dopamine, Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Failure to thrive, Fever, Ganglioneuroblastoma, Ganglioneuroma, Heterogeneous, Horner syndrome, Hypertension, Incomplete penetrance, Myoclonus, Neuroblastoma, Opsoclonus, Skin nodule, Spinal cord compression, Sporadic, Weight loss
U3	BROX	1.148551811	2.43E-14	Unclassified		
U3	RP5.821D11.7	1.540956626	2.66E-14			
U3	TAF8	1.679135115	2.71E-14	Transcription factor	BrainSpLMD|129685	OMIM|609514
U3	SAR1A	1.979772202	2.73E-14	GTPase	BrainSpLMD|56681;Eurexp|euxassay_004471|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|607691
U3	TAF1C	1.846598776	3.05E-14	Transcription factor	BrainSpLMD|9013	SFARI||Autism, No category;OMIM|604905
U3	MT.TV	1.188172088	3.18E-14			
U3	TMPO	0.377523039	3.38E-14	Peptide hormone	BrainSpLMD|7112	OMIM|188380;HPO|7112|Autosomal dominant inheritance, Dilated cardiomyopathy, Reduced systolic function
U3	PDCD11	2.190952562	3.52E-14	Transcription regulatory protein	BrainSpLMD|22984;Eurexp|euxassay_005987|thymus primordium	OMIM|612333
U3	HMGB1P5	0.407465446	3.52E-14			
U3	ZNF562	1.117682707	3.87E-14	Unclassified	BrainSpLMD|54811	
U3	ARID2	0.631801923	3.94E-14	DNA binding protein		OMIM|609539;COSMIC||hepatocellular carcinoma;HPO|196528|Abnormality of cardiovascular system morphology, Abnormality of the dentition, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Feeding difficulties in infancy, Generalized hirsutism, Global developmental delay, Hearing impairment, Hypoplastic fifth fingernail, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Microcephaly, Muscular hypotonia, Nystagmus, Recurrent respiratory infections, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Slow-growing hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Wide mouth, Wide nasal bridge
U3	RPS17L	1.274203056	4.05E-14			
U3	SMARCE1	0.68223805	4.15E-14	DNA binding protein	BrainSpLMD|6605;BrainSpMouseDev|36650	OMIM|603111;COSMIC||meningioma;HPO|6605|Abnormality of cardiovascular system morphology, Abnormality of the dentition, Absent speech, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Arachnodactyly, Atrial septal defect, Autosomal dominant inheritance, Cerebellar hypoplasia, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Dystrophic toenail, Elbow dislocation, Feeding difficulties, Feeding difficulties in infancy, Generalized hirsutism, Global developmental delay, Hearing impairment, Hypoplasia of the corpus callosum, Hypoplastic fifth fingernail, Hypoplastic toenails, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Low anterior hairline, Microcephaly, Muscular hypotonia, Nystagmus, Ptosis, Recurrent infections, Recurrent respiratory infections, Sandal gap, Scoliosis, Seizures, Short distal phalanx of finger, Short philtrum, Short stature, Slow-growing hair, Sparse scalp hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick nasal alae, Thin upper lip vermilion, Wide mouth, Wide nasal bridge, Wide nose
U3	AC016747.3	2.828171615	4.16E-14			
U3	MAPK1IP1L	1.272352623	4.16E-14	Unclassified	BrainSpLMD|93487	OMIM|617226
U3	GCN1L1	0.930001115	4.21E-14			
U3	MED4	1.598610724	4.36E-14	Translation regulatory protein	BrainSpLMD|29079	OMIM|605718
U3	HMGN5	2.706546974	4.97E-14	Transcription regulatory protein	BrainSpLMD|79366;BrainSpMouseDev|30371	OMIM|300385
U3	RPS20	0.364484195	5.13E-14	Ribosomal subunit	BrainSpLMD|6224	OMIM|603682
U3	SAP30L.AS1	3.512457272	5.23E-14			
U3	COMMD10	0.297980793	5.28E-14	Unclassified	BrainSpLMD|51397	OMIM|616704
U3	RNF217	0.508479229	5.35E-14	Integral membrane protein	BrainSpLMD|154214;Eurexp|euxassay_010804|adrenal gland, mantle layer, vertebral axis muscle system	
U3	ATG12	0.4532036	5.73E-14	Unclassified	BrainSpLMD|9140;Eurexp|euxassay_005505|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X	OMIM|609608
U3	TNRC6A	0.834943248	5.83E-14	Transcription regulatory protein	BrainSpLMD|27327	OMIM|610739
U3	RPL10A	0.392270542	6.20E-14	Ribosomal subunit		OMIM|615660
U3	TMEM165	0.945887172	6.34E-14	Unclassified	BrainSpLMD|55858	OMIM|614726;HPO|55858|Abnormality of the cerebral white matter, Autosomal recessive inheritance, Diaphyseal dysplasia, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Epiphyseal dysplasia, Failure to thrive, Generalized hypotonia, Global developmental delay, Hepatomegaly, Joint laxity, Kyphoscoliosis, Low-set ears, Metaphyseal dysplasia, Muscle weakness, Osteoporosis, Phenotypic variability, Posteriorly rotated ears, Postnatal microcephaly, Short stature, Thrombocytopenia
U3	YIPF6	1.204805708	6.88E-14	Unclassified	BrainSpLMD|286451	OMIM|300996
U3	SLC25A3	1.589399617	7.41E-14	Transport/cargo protein	BrainSpLMD|5250	OMIM|600370;HPO|5250|Abnormal mitochondrial shape, Abnormality of the mitochondrion, Autosomal recessive inheritance, Cyanosis, Failure to thrive, Hypertrophic cardiomyopathy, Increased serum lactate, Lactic acidosis, Low-output congestive heart failure, Metabolic acidosis, Muscular hypotonia, Myopathy, Respiratory insufficiency
U3	HSPA4	1.422715518	7.58E-14	Chaperone	BrainSpLMD|3308	OMIM|601113
U3	LSM14A	1.273468014	7.59E-14	Unclassified	BrainSpLMD|26065	OMIM|610677;COSMIC||Spitzoid tumour
U3	ARL10	0.877899441	8.06E-14	GTPase	BrainSpLMD|285598;BrainSpMouseDev|36074	
U3	RPL23	2.145693109	8.79E-14	Ribosomal subunit	BrainSpLMD|9349	OMIM|603662
U3	KIAA1217	2.905616425	8.89E-14	Unclassified	BrainSpLMD|56243;Eurexp|euxassay_002039|ventricular layer	OMIM|617367
U3	SAT1	1.925107433	9.48E-14	Enzyme: Acyltransferase	BrainSpLMD|6303;Eurexp|euxassay_018693|bladder, incisor, metanephros, olfactory, urethra, vibrissa	OMIM|313020;HPO|6303|Blepharitis, Conjunctivitis, Corneal dystrophy, Dry skin, Dystrophic fingernails, Ectropion, Facial erythema, Follicular hyperkeratosis, Folliculitis, Heterogeneous, Keratitis, Nail dysplasia, Palmoplantar keratoderma, Perifollicular fibrosis, Photophobia, Scarring alopecia of scalp, Sparse and thin eyebrow, Sparse eyelashes, X-linked recessive inheritance
U3	SDHAP3	2.300019671	9.51E-14			
U3	CTGF	3.464886006	9.96E-14	Extracellular matrix protein	BrainSpLMD|1490;Eurexp|euxassay_004838|alimentary system, aorta, arch of aorta, axial skeleton, basioccipital bone, basisphenoid bone, bladder, cardiac muscle, carotid artery, cartilage, clavicle, cortex, cricoid, descending, dorsal aorta, exoccipital bone, fibula, humerus, incisor, laryngeal, larynx, lung, meninges, mesenchyme, metanephros, metatarsus, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, palatal shelf, pelvic girdle, petrous part, phalanx, pharyngo-tympanic tube, pulmonary artery, pulmonary trunk, respiratory tract, rib, scapula, skeletal muscle, skeleton, sternum, stomach, temporal bone, thoracic aorta, thyroid, tibia, trachea, tubo-tympanic recess, turbinate bones, umbilical artery, vault of skull, ventricle, ventricular layer, vomeronasal organ;BrainSpMouseDev|13996	OMIM|121009;HPO|1490|Arthralgia, Arthritis, Autoimmunity, Carious teeth, Dyspareunia, Dysphagia, Dyspnea, Flexion contracture, Gastroesophageal reflux, Hypopigmented skin patches, Malabsorption, Mucosal telangiectasiae, Muscle weakness, Narrow foramen obturatorium, Nausea and vomiting, Oliguria, Osteolysis, Pulmonary fibrosis, Pulmonary infiltrates, Skin ulcer, Telangiectasia of the skin, Xerostomia
U3	AAED1	3.517958893	9.98E-14	Unclassified		
U3	ADNP	1.235111461	1.08E-13	Transcription factor	BrainSpLMD|23394;BrainSpMouseDev|11325	SFARI||Autism, 1 - High confidence;OMIM|611386;HPO|23394|Autistic behavior, Autosomal dominant inheritance, Cleft eyelid, Downslanted palpebral fissures, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hyperactivity, Hypermetropia, Infantile onset, Intellectual disability, Joint laxity, Language impairment, Obesity, Obsessive-compulsive behavior, Prominent forehead, Ptosis, Recurrent infections, Short nose, Short stature, Small hand, Smooth philtrum, Stereotypy, Strabismus, Thin upper lip vermilion, Visual impairment, Wide nasal bridge
U3	CS	0.497904531	1.17E-13	Enzyme: Acyltransferase	BrainSpLMD|1431	OMIM|118950
U3	RPLP2	0.799075028	1.17E-13	Ribosomal subunit		OMIM|180530
U3	RP11.543B16.1	0.815624852	1.24E-13			
U3	STIP1	1.451143539	1.25E-13	Adapter molecule	BrainSpLMD|10963	OMIM|605063
U3	LSM12	1.964500801	1.25E-13	Unclassified		OMIM|611793
U3	RP4.635E18.8	0.704201901	1.26E-13			
U3	UBA6	0.992693414	1.33E-13	Ubiquitin proteasome system protein	BrainSpLMD|55236	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611361
U3	EZH2	0.420919378	1.51E-13	Transcription regulatory protein	BrainSpLMD|2146	OMIM|601573;COSMIC||DLBCL;HPO|2146|Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Absent septum pellucidum, Accelerated skeletal maturation, Autosomal dominant inheritance, Behavioral abnormality, Broad foot, Broad forehead, Broad thumb, Calcaneovalgus deformity, Camptodactyly, Camptodactyly of finger, Clinodactyly, Coxa valga, Cryptorchidism, Cutis laxa, Deep philtrum, Deep-set nails, Delayed speech and language development, Depressed nasal bridge, Diastasis recti, Dilation of lateral ventricles, Dimple chin, Downslanted palpebral fissures, Dysarthria, Dysharmonic bone age, Epicanthus, Feeding difficulties in infancy, Fine hair, Flared femoral metaphysis, Flared humeral metaphysis, Generalized hypotonia, Global developmental delay, Hoarse voice, Hydrocele testis, Hypertelorism, Hypertonia, Hypoplastic iliac wing, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Inverted nipples, Joint contracture of the hand, Joint stiffness, Kyphosis, Large hands, Limited elbow extension, Limited knee extension, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Mandibular prognathia, Metatarsus adductus, Micrognathia, Overlapping toe, Pes cavus, Prominent fingertip pads, Radial deviation of finger, Redundant skin, Retrognathia, Round face, Scoliosis, Seizures, Short fourth metatarsal, Short ribs, Slurred speech, Sparse hair, Spasticity, Strabismus, Talipes equinovarus, Tall stature, Thin nail, Umbilical hernia
U3	RAD52	2.248276922	1.53E-13	DNA binding protein;Transcription regulatory protein	BrainSpLMD|5893	OMIM|600392
U3	ADAM10	1.395219412	1.67E-13	Metallo protease	BrainSpLMD|102;Eurexp|euxassay_007598|anterior, dorsal root ganglion, epithelium, external, facial VII, glossopharyngeal IX, inner ear, lens, liver, naso-lacrimal duct, neural retina, olfactory, pectoral girdle and thoracic body wall, trigeminal V, vagus X;BrainSpMouseDev|11275	OMIM|602192;HPO|102|Autosomal dominant inheritance
U3	LUM	1.272951888	1.68E-13	Extracellular matrix protein	BrainSpLMD|4060;Eurexp|euxassay_001718|bladder, clavicle, cochlea, dermis, diaphragm, fundus region, head mesenchyme, hindgut, meninges, midgut, rib, skeletal muscle, stomach, vertebral axis muscle system	OMIM|600616
U3	CIRBP	0.575743332	1.83E-13	RNA binding protein	BrainSpLMD|1153	OMIM|602649
U3	SENP6	1.489864299	1.89E-13	Ubiquitin proteasome system protein	BrainSpLMD|26054;Eurexp|euxassay_005645|embryo	OMIM|605003
U3	SCAMP2	0.58247062	2.19E-13	Membrane transport protein	BrainSpLMD|10066	OMIM|606912
U3	UBA2	0.265863524	2.21E-13	Ubiquitin proteasome system protein	BrainSpLMD|10054	OMIM|613295
U3	VIM	1.308602834	2.25E-13	Cytoskeletal protein	BrainSpLMD|7431	OMIM|193060;HPO|7431|Autosomal dominant inheritance, Congenital onset, Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract
U3	RPS29	0.632549366	2.26E-13	Ribosomal subunit	BrainSpLMD|6235	OMIM|603633;HPO|6235|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Childhood onset, Cleft palate, Delayed puberty, Elevated red cell adenosine deaminase activity, Fatigue, Incomplete penetrance, Macrocytic anemia, Migraine, Normocytic anemia, Pallor, Variable expressivity
U3	TSC1	0.778705182	2.31E-13	Cytoskeletal associated protein	BrainSpLMD|7248;BrainSpMouseDev|41454	SFARI||Autism, No category;OMIM|605284;COSMIC||renal cell carcinoma, bladder carcinoma, hamartoma, renal cell carcinoma, tuberous sclerosis tuber;HPO|7248|Abdominal pain, Abnormality of female internal genitalia, Abnormality of the respiratory system, Achromatic retinal patches, Adenoma sebaceum, Adult onset, Angiofibromas, Astrocytoma, Astrocytosis, Atelectasis, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Behavioral abnormality, Cafe-au-lait spot, Cardiac rhabdomyoma, Cerebral calcification, Chest pain, Chordoma, Chylothorax, Cognitive impairment, Confetti-like hypopigmented macules, Cortical dysplasia, Cortical tubers, Cough, Dental enamel pits, Dyspnea, EEG abnormality, Emphysema, Ependymoma, Focal seizures with impairment of consciousness or awareness, Focal white matter lesions, Gingival fibromatosis, Global developmental delay, Hematuria, Hemiparesis, Heterogeneous, Hypomelanotic macule, Hypopigmented skin patches, Hypothyroidism, Infantile onset, Infantile spasms, Intellectual disability, Lymphadenopathy, Multiple cafe-au-lait spots, Nevus flammeus, Optic atrophy, Optic glioma, Papule, Phenotypic variability, Pneumothorax, Precocious puberty, Premature chromatid separation, Projection of scalp hair onto lateral cheek, Prominent occiput, Pulmonary infiltrates, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Restrictive ventilatory defect, Retinal hamartoma, Seizures, Shagreen patch, Skin tags, Somatic mutation, Specific learning disability, Sporadic, Subcutaneous nodule, Subependymal giant-cell astrocytoma, Subependymal nodules, Subungual fibromas, Ungual fibroma, Wolff-Parkinson-White syndrome
U3	KCNJ2	2.258369857	2.43E-13	Inward rectifier channel	BrainSpLMD|3759;Eurexp|euxassay_013544|mandible, maxilla, olfactory	SFARI||Autism, No category;OMIM|600681;HPO|3759|Antegonial notching of mandible, Atrial fibrillation, Autosomal dominant inheritance, Bidirectional ventricular ectopy, Blepharophimosis, Brachydactyly, Bradycardia, Broad forehead, Bulbous nose, Cleft palate, Clinodactyly of the 5th finger, Clinodactyly of the 5th toe, Delayed eruption of permanent teeth, Delayed skeletal maturation, Depressivity, Facial asymmetry, Growth abnormality, High palate, Hypertelorism, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Joint laxity, Low-set ears, Malar flattening, Microcephaly, Oligodontia, Palpitations, Paroxysmal atrial fibrillation, Periodic hypokalemic paresis, Persistence of primary teeth, Preauricular pit, Prolonged QT interval, Prominent U wave, Prominent frontal sinuses, Scapular winging, Scoliosis, Short foot, Short mandibular rami, Short metacarpal, Short metatarsal, Short palm, Short palpebral fissure, Short phalanx of finger, Shortened QT interval, Slender long bone, Small hand, Syncope, Tachycardia, Thin upper lip vermilion, Toe syndactyly, Triangular face
U3	ITPA	1.928342898	2.49E-13	Enzyme: Hydrolase	BrainSpLMD|3704	OMIM|147520;HPO|3704|Autosomal recessive inheritance, Brain atrophy, Cerebral atrophy, Death in infancy, Delayed CNS myelination, Encephalopathy, High pitched voice, Infantile onset, Intrauterine growth retardation, Irritability, Limb tremor, Severe muscular hypotonia, Status epilepticus
U3	PDS5B	0.315794391	2.53E-13	Transcription factor	BrainSpLMD|23047	OMIM|605333
U3	PNN	0.913656507	2.78E-13	Adhesion molecule	BrainSpLMD|5411;BrainSpMouseDev|18712	OMIM|603154
U3	MYO1B	2.277953511	2.89E-13	Motor protein	BrainSpLMD|4430;Eurexp|euxassay_006192|mantle layer, olfactory, ventricular layer	OMIM|606537
U3	GRB14	1.21332395	3.01E-13	Adapter molecule	BrainSpLMD|2888;Eurexp|euxassay_012213|dorsal root ganglion, mantle layer, nucleus pulposus, trigeminal V	OMIM|601524
U3	OTUD7B	0.975231405	3.14E-13	Ubiquitin proteasome system protein	BrainSpLMD|56957	OMIM|611748
U3	EIF3E	2.067772543	3.18E-13	Translation regulatory protein	BrainSpLMD|3646	OMIM|602210;COSMIC||colorectal
U3	TM9SF2	1.213975185	4.08E-13	Integral membrane protein	BrainSpLMD|9375;Eurexp|euxassay_008168|basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, left, midgut, orbito-sphenoid, otic capsule, petrous part, rib, right, turbinate	OMIM|604678
U3	RUNX1T1	0.323606414	4.69E-13	Transcription regulatory protein	BrainSpLMD|862;Eurexp|euxassay_016597|dorsal grey horn, mantle layer;BrainSpMouseDev|12180	OMIM|133435;COSMIC||AML
U3	TRAPPC4	1.243416259	5.13E-13	Transport/cargo protein	BrainSpLMD|51399;Eurexp|euxassay_002113|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, molar, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|610971
U3	LINC01102	0.637947749	5.20E-13			
U3	EIF4E3	0.580408965	6.04E-13	RNA binding protein	BrainSpLMD|317649;Eurexp|euxassay_007888|neural retina, olfactory, vomeronasal organ	OMIM|609896
U3	YWHAG	0.665558651	6.75E-13	Adapter molecule	BrainSpLMD|7532	OMIM|605356
U3	ORC2	0.891241194	7.20E-13	DNA binding protein	BrainSpLMD|4999	OMIM|601182
U3	LINC00888	1.218648614	7.43E-13			
U3	REEP3	1.626292683	7.77E-13	Unclassified	BrainSpLMD|221035;Eurexp|euxassay_004457|digit 1, digit 2, digit 3, digit 4, digit 5, footplate, handplate, lower leg, trigeminal V, valve, ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|609348
U3	KLF6	0.837534599	8.36E-13	Transcription factor	BrainSpLMD|1316;Eurexp|euxassay_018886|mantle layer, marginal layer;BrainSpMouseDev|23602	OMIM|602053;COSMIC||prostate, glioma;HPO|1316|Autosomal dominant inheritance, Prostate cancer, Somatic mutation, Stomach cancer
U3	SOX9.AS1	0.560851267	8.36E-13			
U3	NADK2	0.470205218	8.60E-13	Unclassified	BrainSpLMD|133686	OMIM|615787;HPO|133686|Autosomal recessive inheritance, Cerebral atrophy, Choreoathetosis, Cortical visual impairment, Death in infancy, Decreased plasma free carnitine, Dystonia, Encephalopathy, Failure to thrive, Global developmental delay, Hyperlysinemia, Leukodystrophy, Microcephaly, Muscular hypotonia, Neonatal hypotonia, Nystagmus, Seizures, Spasticity, Tetraplegia, Ventriculomegaly
U3	SMC2	1.555946184	8.69E-13	Unclassified	BrainSpLMD|10592;Eurexp|euxassay_011062|cortex, dorsal grey horn, incisor, lobe, lung, marginal layer, molar, orbito-sphenoid, submandibular gland primordium, thymus primordium, turbinate bones, ventral grey horn, ventricular layer, vibrissa	OMIM|605576
U3	C19orf43	2.651285692	1.07E-12			
U3	KIAA0922	1.224856093	1.31E-12			
U3	ANKRD40	0.690680764	1.39E-12	Unclassified	BrainSpLMD|91369	
U3	ARHGEF26	0.479646634	1.43E-12		BrainSpLMD|26084;Eurexp|euxassay_016114|ventricular layer	OMIM|617552
U3	CDIP1	1.377093758	1.43E-12	Unclassified	BrainSpLMD|29965	OMIM|610503
U3	NKIRAS1	1.579861781	1.48E-12	GTPase	BrainSpLMD|28512	OMIM|604496
U3	TRA2A	0.750460736	1.57E-12	RNA binding protein	BrainSpLMD|29896	OMIM|602718
U3	RPL38	0.493519864	1.68E-12	Ribosomal subunit	Eurexp|euxassay_002056|thymus primordium	OMIM|604182
U3	KIAA0907	1.085587548	1.80E-12			
U3	NDUFB4	0.399801793	1.80E-12	Enzyme: Oxidoreductase		OMIM|603840
U3	COX6B1	0.341551377	1.93E-12	Enzyme: Oxidoreductase	BrainSpLMD|1340	OMIM|124089;HPO|1340|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
U3	TFG	0.279245281	1.93E-12	Enzyme regulator	BrainSpLMD|10342	OMIM|602498;COSMIC||papillary thyroid, ALCL, NSCLC, extraskeletal myxoid chondrosarcoma;HPO|10342|Abnormal myelination, Abnormality of peripheral nerve conduction, Abnormality of the Achilles tendon, Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Difficulty climbing stairs, Difficulty standing, Distal lower limb amyotrophy, Distal sensory impairment, Fasciculations, Gait disturbance, Gliosis, Hyperlipidemia, Hyperreflexia, Inability to walk, Mildly elevated creatine phosphokinase, Motor polyneuropathy, Optic atrophy, Peripheral neuropathy, Proximal amyotrophy, Proximal muscle weakness, Sensorimotor neuropathy, Sensory neuropathy, Slow progression, Spastic paraplegia, Tetraplegia, Visual loss
U3	PLEKHA5	0.617894452	2.02E-12	Adapter molecule	BrainSpLMD|54477;Eurexp|euxassay_005649|basal plate, calyces, cervical, cervico-thoracic, cochlear component, dorsal root ganglion, facial VII, glossopharyngeal IX, inferior, intraventricular portion, mantle layer, metanephros, pelvis, stomach, superior, thoracic, trigeminal V, vagus X, vestibular component	OMIM|607770
U3	KPNB1	1.190780979	2.16E-12	Transport/cargo protein	BrainSpLMD|3837;Eurexp|euxassay_006809|embryo	OMIM|602738
U3	SLC4A7	0.610857141	2.18E-12	Transport/cargo protein	BrainSpLMD|9497	OMIM|603353
U3	CHORDC1	0.714801991	2.34E-12	Unclassified	BrainSpLMD|26973;Eurexp|euxassay_005070|brain, olfactory, trigeminal V, vomeronasal organ	OMIM|604353
U3	RPS5	1.923499625	2.56E-12	Ribosomal subunit		OMIM|603630
U3	LGMN	1.490988529	2.65E-12	Cysteine protease	BrainSpLMD|5641;Eurexp|euxassay_011126|choroid invagination, choroid plexus, corpus striatum, embryo, floor plate, floorplate, mandible, maxilla, pituitary, roof plate;BrainSpMouseDev|18904	OMIM|602620
U3	TJP1	1.265443039	2.68E-12	Cell junction protein	BrainSpLMD|7082;Eurexp|euxassay_018809|brain, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, left lung, meninges, metanephros, right lung, spinal cord, trigeminal V	OMIM|601009
U3	EXOSC9	0.26962124	2.73E-12	Ribonuclease	BrainSpLMD|5393	OMIM|606180
U3	EPB41	0.948359087	2.74E-12	Structural protein	BrainSpLMD|2035	OMIM|130500;HPO|2035|Autosomal dominant inheritance, Elliptocytosis, Hemolytic anemia
U3	NDUFAF2	2.332956926	2.81E-12	Unclassified	BrainSpLMD|91942	OMIM|609653;HPO|91942|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, CNS demyelination, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Dysarthria, Dystonia, Emotional lability, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Gliosis, Global developmental delay, Growth delay, Hepatic failure, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Phenotypic variability, Pigmentary retinopathy, Progressive, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
U3	RSRP1	1.309762836	2.97E-12	Unclassified	BrainSpLMD|57035	
U3	RP11.434H6.7	1.686025	3.11E-12			
U3	RPS4X	0.741868043	3.24E-12	Ribosomal subunit	BrainSpLMD|6191;BrainSpMouseDev|19865	OMIM|312760
U3	CTD.2002H8.2	1.575912318	3.25E-12			
U3	TPM1	2.407828974	3.28E-12	Cytoskeletal associated protein	BrainSpLMD|7168;Eurexp|euxassay_009503|atrium, axial skeleton, bladder, choroid plexus, diaphragm, extrinsic ocular muscle, hindgut, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, liver, lung, mantle layer, mesenchyme, metanephros, midgut, nasal septum, skeletal muscle, skin, stomach, ventral grey horn, ventricle, vertebral axis muscle system, vibrissa	OMIM|191010;HPO|7168|Autosomal dominant inheritance, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular tachycardia
U3	BCL10	1.981295732	3.30E-12	Adapter molecule	BrainSpLMD|8915	OMIM|603517;COSMIC||MALT;HPO|8915|Anemia, Autosomal recessive inheritance, B-cell lymphoma, Constipation, Decreased antibody level in blood, Encephalitis, Fatigue, Fever, Gastric lymphoma, Hyperhidrosis, Immunodeficiency, Infantile onset, Nausea and vomiting, Pulmonary infiltrates, Recurrent infections, Seizures, Weight loss
U3	TWSG1	3.317347151	3.53E-12	Secreted polypeptide	BrainSpLMD|57045	OMIM|605049
U3	SCP2	0.573837151	3.54E-12	Membrane transport protein	BrainSpLMD|6342	SFARI||Autism, 4 - Minimal evidence;OMIM|184755;HPO|6342|Abnormal motor neuron morphology, Abnormality of saccadic eye movements, Abnormality of thalamus morphology, Autosomal recessive inheritance, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Hyposmia, Intention tremor, Leukoencephalopathy, Peripheral neuropathy, Torticollis
U3	FAM122B	1.592639693	3.58E-12	Unclassified	BrainSpLMD|159090;Eurexp|euxassay_002251|axial skeleton, cranium, mesenchyme, pectoral girdle and thoracic body wall, trachea	
U3	SERINC1	0.289632579	3.60E-12	Integral membrane protein	BrainSpLMD|57515;Eurexp|euxassay_003005|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614548
U3	CPNE8	2.311334479	3.82E-12	Unclassified	BrainSpLMD|144402	
U3	UBAP2L	0.711942662	3.86E-12	Unclassified	BrainSpLMD|9898	OMIM|616472
U3	CFDP1	1.936104338	3.87E-12	Unclassified	BrainSpLMD|10428	OMIM|608108
U3	RIMKLB	1.945717244	4.03E-12	Unclassified	BrainSpLMD|57494;Eurexp|euxassay_010437|brain, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, incisor, molar, neural retina, phalanx, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|614054
U3	RPL37P2	1.267408557	4.03E-12			
U3	GNAI2	0.25649796	4.13E-12	GTPase;G protein	BrainSpLMD|2771;Eurexp|euxassay_018077|submandibular gland primordium, ventricular layer, vibrissa	OMIM|139360;HPO|2771|Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Paroxysmal ventricular tachycardia, Sudden cardiac death
U3	ZNF286A	1.471938551	4.84E-12	DNA binding protein	BrainSpLMD|57335	
U3	PAPOLA	0.333142467	5.13E-12	RNA binding protein	BrainSpLMD|10914	OMIM|605553
U3	CHD4	2.154513082	5.46E-12	DNA binding protein	BrainSpLMD|1108	OMIM|603277;COSMIC||uterine serous carcinoma;HPO|1108|Abnormality of the cardiac septa, Abnormality of the clavicle, Ambiguous genitalia, Anteriorly placed anus, Arnold-Chiari malformation, Astigmatism, Autosomal dominant inheritance, Coarctation of aorta, Coarse facial features, Cryptorchidism, Cupped ear, Epicanthus, Flat acetabular roof, Gait imbalance, Generalized hypotonia, Hearing impairment, Hypertelorism, Intellectual disability, Low-set ears, Macrocephaly, Micropenis, Phenotypic variability, Ptosis, Renal insufficiency, Short femoral neck, Short palpebral fissure, Short stature, Tapered finger, Tetralogy of Fallot, Trigonocephaly, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux, Wormian bones
U3	RP11.631F7.2	0.710774337	6.06E-12			
U3	QARS	0.626318089	6.75E-12	Enzyme: Ligase	BrainSpLMD|5859	OMIM|603727;HPO|5859|Autosomal recessive inheritance, CNS hypomyelination, Cerebellar vermis atrophy, Cerebral atrophy, Epicanthus, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Hypotelorism, Low-set ears, Narrow forehead, Posteriorly rotated ears, Progressive, Progressive microcephaly, Sloping forehead, Status epilepticus, Ventriculomegaly
U3	HSPE1	0.938575848	6.99E-12	Heat shock protein	BrainSpLMD|3336	OMIM|600141
U3	SRSF2	1.261257834	7.76E-12	Ribonucleoprotein	BrainSpLMD|6427	OMIM|600813;COSMIC||MDS, CLL
U3	KIAA1328	1.119947099	7.88E-12	Unclassified	BrainSpLMD|57536	OMIM|616480
U3	RQCD1	2.31120104	8.07E-12			
U3	IGF1R	0.514864778	8.09E-12	Receptor tyrosine kinase	BrainSpLMD|3480;BrainSpMouseDev|15774	OMIM|147370;HPO|3480|Abnormal facial shape, Abnormality of the rib cage, Agitation, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Broad nasal tip, Clinodactyly, Congenital onset, Decreased body weight, Delayed skeletal maturation, Delayed speech and language development, Everted lower lip vermilion, Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}, Intellectual disability, Intrauterine growth retardation, Long philtrum, Microcephaly, Motor delay, Pectus excavatum, Radial deviation of finger, Short palm, Short stature, Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Wide intermamillary distance, Wide nasal bridge
U3	RP4.569M23.4	3.273756812	8.30E-12			
U3	AREL1	1.208484531	9.57E-12	Enzyme: Ligase	BrainSpLMD|9870	OMIM|615380
U3	YWHAE	1.641036086	9.66E-12	Adapter molecule	BrainSpLMD|7531;Eurexp|euxassay_018722|embryo	SFARI||Autism, 4 - Minimal evidence;OMIM|605066;COSMIC||endometrial stromal sarcoma, Miller-Dieker lissencephaly syndrome;HPO|7531|Abnormality of the cardiovascular system, Abnormality of upper lip, Anteverted nares, Cerebral cortical atrophy, Downslanted palpebral fissures, EEG abnormality, Epicanthus, Frontal bossing, Global developmental delay, Growth delay, High forehead, Hypertelorism, Lissencephaly, Low-set ears, Muscular hypotonia, Narrow mouth, Polyhydramnios, Seizures, Short neck, Short nose, Wide nose
U3	GPBP1L1	0.35739615	1.01E-11	Unclassified	BrainSpLMD|60313	
U3	RPL21P28	3.076811092	1.16E-11			
U3	RP11.973D8.5	1.242372264	1.17E-11			
U3	SYAP1	0.701560015	1.21E-11	Transport/cargo protein	BrainSpLMD|94056;Eurexp|euxassay_000499|incisor	SFARI||Autism, No category
U3	RIC8B	0.686304671	1.25E-11	Guanine nucleotide exchange factor	BrainSpLMD|55188	OMIM|609147
U3	RP11.425L10.1	0.573041708	1.27E-11			
U3	TFAP2B	1.670441346	1.31E-11	Transcription factor	BrainSpLMD|7021;Eurexp|euxassay_007906|cervical, cervico-thoracic, epithelium, footplate, handplate, mantle layer, molar, nasal cavity, pharyngo-tympanic tube, rest of skin, submandibular gland primordium, thoracic, ventricular layer;BrainSpMouseDev|21180	OMIM|601601;HPO|7021|Autosomal dominant inheritance, Broad forehead, Broad nasal tip, Clinodactyly of the 5th finger, Depressed nasal bridge, Depressed nasal ridge, Distal/middle symphalangism of 5th finger, Downslanted palpebral fissures, Everted lower lip vermilion, Global developmental delay, Highly arched eyebrow, Hypertelorism, Intellectual disability, mild, Low-set ears, Malar flattening, Mesoaxial hand polydactyly, Parasomnia, Patent ductus arteriosus, Protruding ear, Ptosis, Short middle phalanx of the 5th finger, Short philtrum, Strabismus, Thick eyebrow, Thick vermilion border, Triangular mouth
U3	MRPS23	0.83373609	1.34E-11	Ribosomal subunit	BrainSpLMD|51649;Eurexp|euxassay_008238|alar plate, basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa	OMIM|611985
U3	ISCU	1.548548489	1.35E-11	Unclassified	BrainSpLMD|23479	OMIM|611911;HPO|23479|Abnormal iron deposition in mitochondria, Autosomal recessive inheritance, Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex II, Decreased activity of mitochondrial complex III, Dyspnea, Elevated serum creatine phosphokinase, Exercise intolerance, Increased intramyocellular lipid droplets, Increased serum lactate, Juvenile onset, Lactic acidosis, Mitochondrial myopathy, Muscle cramps, Muscle weakness, Myoglobinuria, Myopathy, Palpitations, Sideroblastic anemia, Subsarcolemmal accumulations of abnormally shaped mitochondria
U3	TLK1	2.521315433	1.39E-11	Serine/threonine kinase	BrainSpLMD|9874	OMIM|608438
U3	SS18	0.256803973	1.40E-11	Transcription regulatory protein	BrainSpLMD|6760	OMIM|600192;COSMIC||synovial sarcoma
U3	CCNL2	2.042632869	1.40E-11	Cell cycle control protein	BrainSpLMD|81669	OMIM|613482
U3	ALYREF	1.910860394	1.45E-11	Chaperone	BrainSpLMD|10189	OMIM|604171
U3	PLIN2	1.739661484	1.59E-11	Storage protein	BrainSpLMD|123	OMIM|103195
U3	TMEM237	0.697758446	1.59E-11	Unclassified	BrainSpLMD|65062	OMIM|614423;HPO|65062|Apnea, Ataxia, Autistic behavior, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Coloboma, Dandy-Walker malformation, Deeply set eye, Downslanted palpebral fissures, Encephalocele, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, High forehead, Highly arched eyebrow, Hydrocephalus, Hypertelorism, Hypertension, Intellectual disability, Intellectual disability, severe, Iris coloboma, Irritability, Long face, Low-set ears, Low-set, posteriorly rotated ears, Malar flattening, Microphthalmia, Molar tooth sign on MRI, Morning glory anomaly, Muscular hypotonia, Nephropathy, Nystagmus, Oculomotor apraxia, Open mouth, Postaxial polydactyly, Posteriorly rotated ears, Prominent nasal bridge, Ptosis, Renal cyst, Retinal dystrophy, Short philtrum, Strabismus, Tachypnea, Tented upper lip vermilion
U3	MDM2	1.727494326	1.63E-11	Ubiquitin proteasome system protein	BrainSpLMD|4193;Eurexp|euxassay_006190|embryo	OMIM|164785;COSMIC||sarcoma, glioma, colorectal, other tumour types;HPO|4193|Breast carcinoma, Lymphoma, Neoplasm of the adrenal cortex, Neoplasm of the colon, Neoplasm of the nervous system, Neoplasm of the pancreas, Neoplasm of the skin, Osteosarcoma, Progressive encephalopathy, Subcutaneous nodule
U3	NPM1P27	0.606849453	1.68E-11			
U3	SPAG16	2.139441379	1.73E-11	Unclassified	BrainSpLMD|79582	OMIM|612173
U3	SYNE1	1.506912533	1.76E-11	Unclassified	BrainSpLMD|23345	SFARI||Autism, 4 - Minimal evidence;OMIM|608441;HPO|23345|Adult onset, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Childhood onset, Dysarthria, Dysmetria, Elevated serum creatine phosphokinase, Gait ataxia, Left ventricular septal hypertrophy, Limb ataxia, Muscular dystrophy, Neck muscle weakness, Nystagmus, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Slow progression
U3	RPL41P2	0.445911138	1.78E-11			
U3	PMPCA	2.951081977	1.82E-11	Protease	BrainSpLMD|23203	OMIM|613036;HPO|23203|Abnormality of the retinal vasculature, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Cataract, Cerebellar hypoplasia, Delayed speech and language development, Dysarthria, Dysmetria, Gait ataxia, Gait disturbance, Generalized hypopigmentation, Generalized hypotonia, Global developmental delay, Hyperreflexia, Incoordination, Infantile onset, Intellectual disability, Limb ataxia, Malabsorption, Muscular hypotonia, Nonprogressive, Nystagmus, Ocular albinism, Saccadic smooth pursuit, Scoliosis, Spasticity, Tremor, Unsteady gait, White hair
U3	RPL24P4	1.088158727	1.84E-11			
U3	CLDND1	0.841853278	1.84E-11	Unclassified	BrainSpLMD|56650;Eurexp|euxassay_006238|embryo	
U3	SREK1	1.28138079	1.97E-11	RNA binding protein	BrainSpLMD|140890	OMIM|609268
U3	GEM	2.920133174	2.16E-11	G protein	BrainSpLMD|2669;Eurexp|euxassay_003192|adrenal gland, clavicle, dorsal grey horn, incisor, molar, oesophagus, testis, ventricular layer, vibrissa	OMIM|600164
U3	CSE1L	0.456941566	2.27E-11	Transport/cargo protein	BrainSpLMD|1434;Eurexp|euxassay_000112|cortex, gland, glossopharyngeal IX, incisor, liver, lung, metanephros, physiological umbilical hernia, submandibular gland primordium, thymus primordium, trigeminal V, turbinate bones, vagus X, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|601342
U3	RP11.761N21.2	1.196864598	2.43E-11			
U3	TCP1	1.251199173	2.59E-11	Chaperone	BrainSpLMD|6950	OMIM|186980
U3	RBL1	0.342663785	2.66E-11	Cell cycle control protein	BrainSpLMD|5933	OMIM|116957
U3	KCNAB3	2.982616921	2.73E-11	Voltage gated channel	BrainSpLMD|9196;BrainSpMouseDev|16272	OMIM|604111
U3	MSH6	1.583142874	2.75E-11	DNA repair protein	BrainSpLMD|2956;Eurexp|euxassay_006580|embryo	OMIM|600678;COSMIC||colorectal, colorectal, endometrial, ovarian;HPO|2956|Abdominal pain, Abnormality of abdomen morphology, Adenoma sebaceum, Anxiety, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary freckling, Basal cell carcinoma, Cafe-au-lait spot, Colon cancer, Constipation, Death in early adulthood, Death in infancy, Depressivity, Endometrial carcinoma, Ependymoma, Fatigue, Gastrointestinal hemorrhage, Glioblastoma, Hereditary nonpolyposis colorectal carcinoma, Hypermelanotic macule, Hypertonia, Incomplete penetrance, Increased intracranial pressure, Irritability, Leukemia, Lymphoma, Malabsorption, Medulloblastoma, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Neoplasm of the stomach, Neuroblastoma, Rhabdomyosarcoma, Seizures, Weight loss
U3	BAP1	0.614161905	3.13E-11	Ubiquitin proteasome system protein	BrainSpLMD|8314	OMIM|603089;COSMIC||uveal melanoma, breast, NSCLC, RCC, mesothelioma, uveal melanoma;HPO|8314|Abnormality of the hair, Abnormality of the lymphatic system, Autosomal dominant inheritance, Choroidal melanoma, Ciliary body melanoma, Cutaneous melanoma, Dry skin, Freckling, Intraocular melanoma, Iris melanoma, Lung adenocarcinoma, Melanoma, Meningioma, Nevus, Retinal detachment, Visual loss
U3	PRKAA2	2.384321294	3.19E-11	Serine/threonine kinase	BrainSpLMD|5563;Eurexp|euxassay_006001|left lung, right lung, ventricle	OMIM|600497
U3	ADRM1	2.768625202	3.25E-11	Adhesion molecule;Cell surface receptor	BrainSpLMD|11047;Eurexp|euxassay_011943|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|610650
U3	RP11.320P11.1	3.470213841	3.51E-11			
U3	CCNJ	1.211173245	3.68E-11	Cell cycle control protein	BrainSpLMD|54619	
U3	MARCKSL1	0.287027826	3.98E-11	Adapter molecule	BrainSpLMD|65108;BrainSpMouseDev|17125	OMIM|602940
U3	TUBGCP6	2.100254333	4.14E-11	Cytoskeletal protein	BrainSpLMD|85378	OMIM|610053;HPO|85378|Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Abnormality of the eyelashes, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Autosomal recessive inheritance, Biparietal narrowing, Cataract, Cerebellar hypoplasia, Cerebral atrophy, Cerebral cortical atrophy, Chorioretinal dysplasia, Congenital onset, Cortical gyral simplification, Global developmental delay, Hypertonia, Intellectual disability, Intrauterine growth retardation, Microcephaly, Microphthalmia, Nystagmus, Optic atrophy, Optic disc pallor, Pachygyria, Pointed chin, Protruding ear, Retinal detachment, Retinal dystrophy, Retinal fold, Scoliosis, Seizures, Short stature, Sloping forehead, Strabismus, Visual impairment, Wide nasal bridge
U3	RPL24P8	0.970943186	4.15E-11			
U3	LATS1	1.110799781	4.39E-11	Serine/threonine kinase	BrainSpLMD|9113	OMIM|603473
U3	HNRNPA0	1.260262208	4.87E-11	Ribonucleoprotein	BrainSpLMD|10949	OMIM|609409
U3	WHSC1L1	0.719376391	4.91E-11			
U3	SPTBN1	0.787116624	4.95E-11	Cytoskeletal protein	BrainSpLMD|6711	OMIM|182790
U3	RPL4	2.080167525	5.91E-11	Ribosomal subunit	BrainSpLMD|6124	OMIM|180479
U3	SFXN1	1.367351708	5.98E-11	Transport/cargo protein	BrainSpLMD|94081;Eurexp|euxassay_006928|embryo	OMIM|615569
U3	ACADM	1.48224153	6.04E-11	Enzyme: Dehydrogenase	BrainSpLMD|34	OMIM|607008;HPO|34|Autosomal recessive inheritance, Cerebral edema, Coma, Decreased plasma carnitine, Elevated hepatic transaminases, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hepatomegaly, Hyperglycinuria, Hypoglycemia, Lethargy, Medium chain dicarboxylic aciduria, Metabolic acidosis, Seizures, Vomiting
U3	PAFAH1B2	0.77667225	6.18E-11	Enzyme: Hydrolase	BrainSpLMD|5049;Eurexp|euxassay_003490|embryo	OMIM|602508;COSMIC||MLCLS
U3	PRCC	1.012075348	6.19E-11	Unclassified	BrainSpLMD|5546;Eurexp|euxassay_005691|embryo	OMIM|179755;COSMIC||papillary renal;HPO|5546|Autosomal dominant inheritance, Incomplete penetrance, Papillary renal cell carcinoma
U3	INPP5F	1.654297337	7.27E-11	Lipid phosphatase	BrainSpLMD|22876;Eurexp|euxassay_008227|ventricle	OMIM|609389
U3	CLNS1A	1.254561966	8.57E-11	Transport/cargo protein	BrainSpLMD|1207	OMIM|602158
U3	NINL	1.03257994	8.84E-11	Calcium binding protein	BrainSpLMD|22981;Eurexp|euxassay_005501|left, right	SFARI||Autism, 3 - Suggestive evidence;OMIM|609580
U3	AHCYL1	1.075638171	9.06E-11	Enzyme: Hydrolase	BrainSpLMD|10768	OMIM|607826
U3	PPIP5K2	1.455799555	1.02E-10	Unclassified	BrainSpLMD|23262;Eurexp|euxassay_012441|dorsal root ganglion, ductus deferens, excretory component, facial VII, glossopharyngeal IX, hindgut, incisor, lens, mantle layer, midgut, molar, neural retina, olfactory, pancreas, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|611648
U3	ENAH	0.782904302	1.05E-10	Cytoskeletal protein	BrainSpLMD|55740;BrainSpMouseDev|13578	OMIM|609061
U3	LPHN2	0.357340885	1.23E-10			
U3	RP11.166D19.1	1.497086009	1.27E-10			
U3	SENP5	0.77015718	1.32E-10	Protease	BrainSpLMD|205564;Eurexp|euxassay_002886|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X	OMIM|612845
U3	SMC1A	0.253598726	1.35E-10	Cell cycle control protein	BrainSpLMD|8243	SFARI||Autism, No category;OMIM|300040;COSMIC||AML, Cornelia de Lange syndrome;HPO|8243|Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Brachydactyly, Clinodactyly, Clinodactyly of the 5th finger, Cognitive impairment, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downslanted palpebral fissures, Downturned corners of mouth, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hirsutism, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Limited elbow movement, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Narrow forehead, Neurological speech impairment, Obsessive-compulsive behavior, Phthisis bulbi, Poor speech, Premature birth, Prominent nasal bridge, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Smooth philtrum, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Ventriculomegaly, Vesicoureteral reflux, Widely spaced teeth, X-linked dominant inheritance, X-linked recessive inheritance
U3	CDK5RAP2	1.228975738	1.40E-10	Cell cycle control protein	BrainSpLMD|55755	OMIM|608201;HPO|55755|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, moderate, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Small cerebral cortex, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
U3	RP6.218J18.2	0.480818683	1.40E-10			
U3	TBC1D23	1.805613686	1.50E-10	Unclassified	BrainSpLMD|55773	OMIM|617687
U3	WNK1	0.406061563	1.62E-10	Serine/threonine kinase	BrainSpLMD|65125;Eurexp|euxassay_018831|skeleton	OMIM|605232;HPO|65125|Abnormal cortical bone morphology, Abnormality of epiphysis morphology, Abnormality of metabolism/homeostasis, Abnormality of the ankles, Abnormality of the eye, Abnormality of the hip bone, Abnormality of the knee, Acral ulceration leading to autoamputation of digits, Anhidrosis, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Decreased taste sensation, Dystrophic fingernails, Dystrophic toenail, Episodic hyperhidrosis, Feeding difficulties in infancy, Foot acroosteolysis, Gastroesophageal reflux, Generalized hypotonia, Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperhidrosis, Hyperkalemia, Hyperlordosis, Hypertension, Hyporeflexia, Infantile onset, Metabolic acidosis, Osteolytic defects of the phalanges of the hand, Painless fractures due to injury, Paronychia, Peripheral neuropathy, Pseudohypoaldosteronism, Reduced bone mineral density, Skeletal muscle atrophy, Slow progression, Tapered finger, Wormian bones
U3	HNRNPL	1.858154216	1.84E-10	Ribonucleoprotein	BrainSpLMD|3191	OMIM|603083
U3	NASP	0.960476085	2.03E-10	Cell cycle control protein	BrainSpLMD|4678;Eurexp|euxassay_016401|marginal layer, metanephros, ventricular layer	OMIM|603185
U3	DEDD2	1.102074588	2.38E-10	Transcription regulatory protein	BrainSpLMD|162989	OMIM|617078
U3	GTF2F2	0.573984636	2.68E-10	Transcription factor	BrainSpLMD|2963	OMIM|189969
U3	LRRC48	0.534647287	2.75E-10			
U3	BMPR1B	2.003387718	2.78E-10	Receptor serine/threonine kinase	BrainSpLMD|658;BrainSpMouseDev|11953	OMIM|603248;HPO|658|2-3 toe syndactyly, Abnormality of epiphysis morphology, Abnormality of the fingernails, Abnormality of the hip bone, Abnormality of the radius, Abnormality of the thumb, Abnormality of the ulna, Abnormality of tibia morphology, Aplasia of the middle phalanges of the toes, Aplasia of the proximal phalanges of the hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the 1st metacarpal, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Aplasia/Hypoplasia of the thumb, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bowing of the long bones, Brachydactyly, Bracket epiphysis of the middle phalanx of the 2nd finger, Bracket epiphysis of the middle phalanx of the 5th finger, Broad foot, Broad hallux, Carpal synostosis, Clinodactyly of the 5th finger, Complete duplication of distal phalanx of the thumb, Cone-shaped epiphysis, Delayed speech and language development, Disproportionate short-limb short stature, Fibular aplasia, Fibular hypoplasia, Hallux valgus, Hypergonadotropic hypogonadism, Hypoplasia of the ulna, Hypoplasia of the uterus, Joint stiffness, Limitation of joint mobility, Medially deviated second toe, Micromelia, Narrow nasal bridge, Poor motor coordination, Postaxial hand polydactyly, Primary amenorrhea, Pseudoepiphyses of the 2nd finger, Radial deviation of finger, Radial deviation of the 2nd finger, Sarcoma, Short 2nd finger, Short distal phalanx of the 2nd finger, Short distal phalanx of the thumb, Short femoral neck, Short finger, Short foot, Short hallux, Short metatarsal, Short middle phalanx of finger, Short middle phalanx of the 5th finger, Short phalanx of finger, Short proximal phalanx of finger, Short proximal phalanx of thumb, Short stature, Short thumb, Short tibia, Short toe, Skeletal dysplasia, Stippling of the epiphysis of the distal phalanx of the thumb, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Triangular shaped middle phalanx of the 2nd finger, Triangular shaped middle phalanx of the 5th finger, Type A2 brachydactyly, Type C brachydactyly, Ulnar deviation of finger, Ulnar deviation of the 2nd finger, Widened proximal tibial metaphyses
U3	INPP5B	3.28270234	2.89E-10	Enzyme: Phosphatase	BrainSpLMD|3633;Eurexp|euxassay_001770|lobe	OMIM|147264
U3	RP11.112J1.1	0.780643851	2.93E-10			
U3	RP11.504P24.2	2.960359768	3.21E-10			
U3	NEDD8	0.950266574	3.25E-10	Ubiquitin proteasome system protein	BrainSpLMD|4738	OMIM|603171
U3	PHPT1	1.006019269	3.32E-10	Enzyme: Phosphatase	BrainSpLMD|29085	OMIM|610167
U3	ADAM19	2.146314625	3.46E-10	Metallo protease	BrainSpLMD|8728;Eurexp|euxassay_002478|bladder, mantle layer;BrainSpMouseDev|11280	OMIM|603640
U3	TMED10	1.56542265	3.56E-10	Integral membrane protein	BrainSpLMD|10972	OMIM|605406
U3	NOP58	1.63322345	3.63E-10	RNA binding protein	BrainSpLMD|51602	OMIM|616742
U3	CSNK2A2	2.282749414	3.73E-10	Serine/threonine kinase	BrainSpLMD|1459;BrainSpMouseDev|12783	OMIM|115442
U3	FKBP9	1.576236805	3.83E-10	Chaperone	BrainSpLMD|11328;Eurexp|euxassay_007465|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, metatarsus, nasal septum, nucleus pulposus, orbito-sphenoid, otic capsule, phalanx, radius, rib, sternum, temporal bone, thyroid, tibia, turbinate, ulna, vault of skull	OMIM|616257;COSMIC||glioma
U3	LPHN1	1.735778512	3.97E-10			
U3	NDUFAF6	2.018266673	4.01E-10	Enzyme: Transferase	BrainSpLMD|137682	OMIM|612392;HPO|137682|Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
U3	TOR1AIP2	1.706841867	4.04E-10	Unclassified	BrainSpLMD|163590	OMIM|614513
U3	CECR2	1.303811811	4.13E-10	Unclassified	BrainSpLMD|27443;Eurexp|euxassay_016232|olfactory	SFARI||Autism, No category;OMIM|607576
U3	TMED4	1.906623051	4.22E-10	Integral membrane protein	BrainSpLMD|222068	OMIM|612038
U3	RYK	0.686699077	4.57E-10	Receptor tyrosine kinase	BrainSpLMD|6259;BrainSpMouseDev|19950	OMIM|600524
U3	CHPT1	1.125513996	4.63E-10	Enzyme: Phosphotransferase	BrainSpLMD|56994;Eurexp|euxassay_012600|midgut	OMIM|616747
U3	KHDRBS1	0.605646423	4.70E-10	RNA binding protein	BrainSpLMD|10657	OMIM|602489
U3	ZC3H4	0.502975792	4.94E-10	Unclassified		SFARI||Autism, 3 - Suggestive evidence
U3	PCBD2	2.203651086	5.11E-10	Enzyme: Dehydratase	BrainSpLMD|84105	OMIM|609836
U3	MRPL57	0.967276813	5.36E-10	Unclassified	BrainSpLMD|78988	OMIM|611997
U3	STON2	1.200622052	5.37E-10	Unclassified	BrainSpLMD|85439	OMIM|608467
U3	RP11.490K7.4	2.713024986	5.94E-10			
U3	RPL19	1.408499109	6.39E-10	Ribosomal subunit	BrainSpLMD|6143	OMIM|180466
U3	CRLF3	1.679093497	6.44E-10	Unclassified	BrainSpLMD|51379;Eurexp|euxassay_008617|liver, thymus primordium	OMIM|614853
U3	ARPC2	0.937332246	6.56E-10	Cytoskeletal associated protein	BrainSpLMD|10109	OMIM|604224
U3	RP5.836N17.4	3.33903981	8.51E-10			
U3	C2orf68	1.134522463	8.74E-10	Unclassified		
U3	RBM6	1.779512132	9.81E-10	RNA binding protein	BrainSpLMD|10180	OMIM|606886
U3	MRPL52	2.742467941	9.93E-10	Ribosomal subunit	BrainSpLMD|122704	OMIM|611856
U3	CEP89	1.70367284	1.01E-09	Unclassified	BrainSpLMD|84902	OMIM|615470;COSMIC||Spitzoid tumour
U3	RPS25	1.593259899	1.02E-09	Ribosomal subunit	BrainSpLMD|6230	OMIM|180465
U3	RANBP2	0.842174382	1.06E-09	Transport/cargo protein	BrainSpLMD|5903;Eurexp|euxassay_016512|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|601181;COSMIC||inflammatory myofibroblastic tumour
U3	ZNF121	1.679590434	1.11E-09	DNA binding protein	BrainSpLMD|7675	OMIM|194628
U3	RPL22	0.512134909	1.34E-09	Ribosomal subunit	BrainSpLMD|6146	OMIM|180474;COSMIC||AML, CML
U3	MED7	3.260671845	1.34E-09	Transcription factor	BrainSpLMD|9443	OMIM|605045
U3	RPL27	1.158809211	1.39E-09	Ribosomal subunit		OMIM|607526;HPO|6155|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Anemia, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Macrocytic anemia, Migraine, Pallor, Pulmonic stenosis
U3	LRRC57	1.877359116	1.40E-09	Unclassified	BrainSpLMD|255252	
U3	RP11.139K1.2	0.517672748	1.54E-09			
U3	CNN2	0.965396091	1.54E-09	Cytoskeletal associated protein	BrainSpLMD|1265	OMIM|602373
U3	ENY2	0.350004369	1.54E-09	Transcription factor	BrainSpLMD|56943;Eurexp|euxassay_006635|ventricular layer	
U3	SLC38A2	0.55537892	1.65E-09	Transport/cargo protein	BrainSpLMD|54407;Eurexp|euxassay_019685|adrenal gland, clavicle, incisor, lung, meninges, metanephros, molar, neural retina, phalanx, submandibular gland primordium, turbinate bones, vibrissa	OMIM|605180
U3	IFT43	0.905361657	1.66E-09	Unclassified	BrainSpLMD|112752	OMIM|614068;HPO|112752|Abnormal diaphysis morphology, Abnormal toenail morphology, Abnormality of the fingernails, Abnormality of the metaphysis, Anteverted nares, Autosomal recessive inheritance, Brachydactyly, Broad nail, Craniosynostosis, Cutis laxa, Dolichocephaly, Dry skin, Ectodermal dysplasia, Epicanthus, Everted lower lip vermilion, Fine hair, Finger syndactyly, Frontal bossing, Hypodontia, Hypoplasia of teeth, Hypotelorism, Joint hyperflexibility, Joint laxity, Microdontia, Narrow chest, Nephronophthisis, Osteoporosis, Pectus excavatum, Prominent occiput, Rhizomelia, Short distal phalanx of finger, Short nail, Short stature, Sparse hair, Syndactyly, Widely spaced teeth
U3	ATIC	0.276106323	1.66E-09	Enzyme: Hydrolase	BrainSpLMD|471;Eurexp|euxassay_001450|cortex, heart, left ventricle, olfactory, right ventricle	OMIM|601731;COSMIC||ALCL;HPO|471|Abnormality of metabolism/homeostasis, Abnormality of the skin, Anteverted nares, Atrial septal defect, Autosomal recessive inheritance, Brachycephaly, Clitoral hypertrophy, Congenital blindness, Frontal bossing, Fused labia minora, Generalized hypotonia, Intellectual disability, profound, Intellectual disability, severe, Low-set ears, Optic atrophy, Prominent forehead, Prominent nasal bridge, Seizures, Thin upper lip vermilion, Wide mouth
U3	CENPC	0.368858194	1.74E-09	DNA binding protein	BrainSpLMD|1060	OMIM|117141
U3	PAQR7	3.396981408	1.78E-09	Cell surface receptor	BrainSpLMD|164091;Eurexp|euxassay_006273|ventricular layer	OMIM|607779
U3	RBM39	1.446262224	1.79E-09	RNA binding protein;Transcription regulatory protein	BrainSpLMD|9584	OMIM|604739
U3	RPS11	1.584034639	1.82E-09	Ribosomal subunit	BrainSpLMD|6205	OMIM|180471
U3	HIF1A	1.814173677	2.05E-09	Transcription factor	BrainSpLMD|3091;BrainSpMouseDev|15027	OMIM|603348;COSMIC||endometrioid carcinoma, glioblastoma, colorectal, renal, lung, pancreatic
U3	PRR3	2.839358234	2.13E-09	Unclassified	BrainSpLMD|80742	
U3	AC025335.1	2.360030718	2.17E-09			
U3	PRPF3	1.18714444	2.21E-09	RNA binding protein	BrainSpLMD|9129	OMIM|607301;HPO|9129|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone dystrophy, Scotoma, Sensorineural hearing impairment, Wide nasal bridge
U3	MT.ND4	0.452510592	2.31E-09			
U3	ANP32E	1.957468657	2.32E-09	Unclassified	BrainSpLMD|81611	OMIM|609611
U3	ST5	2.65660672	2.33E-09	Unclassified	BrainSpLMD|6764	OMIM|140750
U3	EIF2S3	2.411608231	2.34E-09	Translation regulatory protein	BrainSpLMD|1968;Eurexp|euxassay_003509|diaphragm, head mesenchyme, mesenchyme, skeletal muscle, vertebral axis muscle system	OMIM|300161;HPO|1968|Aggressive behavior, Agitation, Babinski sign, Broad nasal tip, Cleft lip, Cleft palate, Cryptorchidism, Delayed puberty, Delayed speech and language development, Depressed nasal tip, Difficulty walking, Downturned corners of mouth, Drooling, EEG abnormality, Full cheeks, Gait ataxia, Generalized hypotonia, Global developmental delay, Growth delay, Growth hormone deficiency, Hyperreflexia, Hypertonia, Hypoglycemia, Hypogonadism, Hypoplasia of the corpus callosum, Inability to walk, Intellectual disability, Intellectual disability, severe, Large earlobe, Long face, Long philtrum, Macrotia, Microcephaly, Micropenis, Muscular hypotonia, Myopia, Nystagmus, Obesity, Open mouth, Poor speech, Round face, Seizures, Severe global developmental delay, Short stature, Sloping forehead, Spastic tetraparesis, Strabismus, Talipes equinovarus, Tall chin, Tapered finger, Thick vermilion border, Variable expressivity, Ventriculomegaly, Widely spaced teeth, X-linked recessive inheritance
U3	MTRNR2L8	0.940041625	2.39E-09			
U3	NAP1L1	0.984156108	2.50E-09	Transcription regulatory protein	BrainSpLMD|4673;Eurexp|euxassay_005511|nucleus pulposus	OMIM|164060
U3	UBE2Q2P6	0.941761596	2.54E-09			
U3	FLJ31306	0.84571512	2.64E-09			
U3	CTD.3131K8.2	2.771771369	2.70E-09			
U3	RNMT	0.750019864	2.73E-09	RNA methyltransferase	BrainSpLMD|8731;Eurexp|euxassay_013666|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mandible, maxilla, metanephros, molar, testis, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|603514
U3	RP11.770J1.4	0.687687477	2.78E-09			
U3	TVP23B	2.27396492	2.97E-09	Integral membrane protein	BrainSpLMD|51030;Eurexp|euxassay_019263|lung	
U3	DNM3OS	3.302691059	3.02E-09			
U3	RBMXL1	2.120541484	3.05E-09	-		
U3	SLX4IP	0.835055747	3.29E-09	Unclassified		OMIM|615958
U3	NFATC3	2.531109736	3.31E-09	Transcription factor	BrainSpLMD|4775;BrainSpMouseDev|17788	OMIM|602698
U3	EIF4A3	2.212793235	3.36E-09	Unclassified	BrainSpLMD|9775;Eurexp|euxassay_003305|submandibular gland primordium, testis, vibrissa	OMIM|608546;HPO|9775|Abnormality of the aryepiglottic fold, Abnormality of the voice, Agenesis of mandibular central incisor, Aplasia of the epiglottis, Autosomal recessive inheritance, Bifid uvula, Cleft lower alveolar ridge, Cleft mandible, Clinodactyly of the 5th finger, Feeding difficulties, Global developmental delay, High palate, Hypoplasia of the radius, Low-set ears, Microretrognathia, Narrow mouth, Pierre-Robin sequence, Prominent nose, Protruding ear, Proximal placement of thumb, Radial deviation of the hand, Short metacarpal, Short phalanx of finger, Short stature, Short thumb, Talipes equinovarus, Tibial deviation of toes
U3	UBA52	0.65424746	3.65E-09	Ribosomal subunit	BrainSpLMD|7311	OMIM|191321
U3	RPS2P5	1.793685072	4.05E-09			
U3	ALDH2	2.578477807	4.52E-09	Enzyme: Dehydrogenase	BrainSpLMD|217;BrainSpMouseDev|11456	OMIM|100650;COSMIC||leiomyoma;HPO|217|Autosomal dominant inheritance, Delayed oxidation of acetaldehyde, Facial flushing after alcohol intake
U3	NUCKS1	1.88069026	5.03E-09	DNA binding protein	BrainSpLMD|64710	OMIM|611912
U3	ITM2B	1.637105374	5.25E-09	Integral membrane protein	BrainSpLMD|9445	OMIM|603904;HPO|9445|Ataxia, Autosomal dominant inheritance, Cerebral amyloid angiopathy, Dementia, Hearing impairment, Hypertonia, Intention tremor, Neurofibrillary tangles, Optic disc pallor, Photophobia, Posterior polar cataract, Progressive neurologic deterioration, Psychosis, Retinal dystrophy, Rigidity, Spasticity, Tremor
U3	TXN	1.509693639	5.26E-09	Enzyme: Reductase	Eurexp|euxassay_000861|basal plate, skeleton, submandibular gland primordium	OMIM|187700
U3	PTPRS	1.171821612	5.43E-09	Receptor tyrosine phosphatase	BrainSpLMD|5802;Eurexp|euxassay_009779|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|601576
U3	FANCD2	2.216201317	5.78E-09	Cell cycle control protein	BrainSpLMD|2177	OMIM|613984;COSMIC||AML, leukaemia;HPO|2177|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of skin pigmentation, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anemia, Anemic pallor, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bruising susceptibility, Cafe-au-lait spot, Chromosomal breakage induced by crosslinking agents, Complete duplication of thumb phalanx, Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Duplicated collecting system, Ectopic kidney, Esophageal atresia, Global developmental delay, Hearing impairment, Horseshoe kidney, Hypergonadotropic hypogonadism, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukemia, Leukopenia, Microcephaly, Microphthalmia, Neutropenia, Pancytopenia, Prolonged G2 phase of cell cycle, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Reticulocytopenia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Small for gestational age, Strabismus, Thrombocytopenia, Tracheoesophageal fistula
U3	POLR2D	1.089155806	5.81E-09	RNA polymerase	BrainSpLMD|5433	OMIM|606017
U3	S1PR2	3.576021812	5.86E-09	G protein coupled receptor	BrainSpLMD|9294;Eurexp|euxassay_006718|bladder, incisor, molar	OMIM|605111;HPO|9294|Autosomal recessive inheritance, Infantile onset, Sensorineural hearing impairment
U3	NCALD	0.913237831	6.50E-09	Calcium binding protein	BrainSpLMD|83988;Eurexp|euxassay_005524|cervical, cervico-thoracic, dorsal root ganglion, forebrain, hindbrain, midbrain, spinal cord, thoracic, trigeminal V, vagus X, vibrissa	OMIM|606722
U3	SH3GL3	1.087141087	7.20E-09	Unclassified	BrainSpLMD|6457	OMIM|603362
U3	RP4.706A16.3	1.162819247	7.69E-09			
U3	PSMD8	2.301691039	7.81E-09	Ubiquitin proteasome system protein	BrainSpLMD|5714;Eurexp|euxassay_006093|epidermis, naris, nose, urethra, vibrissa	
U3	ZBTB8OS	2.77325115	7.82E-09	Unclassified	BrainSpLMD|339487	OMIM|615891
U3	SH3D19	2.124379654	8.27E-09	Unclassified	Eurexp|euxassay_012615|choroid plexus, hindgut, metanephros, midgut, olfactory, stomach	OMIM|608674
U3	RPS2	2.085685871	9.95E-09	Ribosomal subunit	BrainSpLMD|6187;Eurexp|euxassay_005928|embryo	OMIM|603624
U3	PRMT7	1.252321305	1.05E-08	Enzyme: Methyltransferase	BrainSpLMD|54496	OMIM|610087;HPO|54496|Astigmatism, Autosomal recessive inheritance, Brachydactyly, Broad nasal tip, Deeply set eye, Delayed myelination, Delayed speech and language development, Depressed nasal bridge, Epicanthus, Frontal bossing, Generalized hypotonia, Global developmental delay, High palate, Infantile onset, Intellectual disability, Long philtrum, Malar flattening, Microcephaly, Obesity, Pseudohypoparathyroidism, Retrognathia, Seizures, Short metacarpal, Short metatarsal, Short neck, Short palpebral fissure, Short stature, Strabismus, Thin vermilion border, Underdeveloped supraorbital ridges, Wide nasal bridge
U3	RPL5	0.757970631	1.07E-08	Ribosomal subunit	BrainSpLMD|6125	OMIM|603634;COSMIC||T-ALL, Diamond-Blackfan anaemia;HPO|6125|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Bifid uvula, Cleft palate, Cleft upper lip, Delayed puberty, Failure to thrive, Fatigue, Growth delay, Hypertelorism, Increased mean corpuscular volume, Macrocytic anemia, Micrognathia, Migraine, Mitral regurgitation, Mitral valve prolapse, Pallor, Patent ductus arteriosus, Persistence of hemoglobin F, Short thumb, Tetralogy of Fallot, Tracheomalacia, Ventricular hypertrophy, Ventricular septal defect
U3	FAM76A	0.524258392	1.09E-08	Unclassified	BrainSpLMD|199870;Eurexp|euxassay_006532|embryo	
U3	ANKRD10	2.114699707	1.14E-08	Unclassified	BrainSpLMD|55608	
U3	RPS2P55	1.12797167	1.19E-08			
U3	SRSF3	2.031027715	1.26E-08	RNA binding protein	BrainSpLMD|6428	OMIM|603364;COSMIC||follicular lymphoma
U3	CLK2	2.835391101	1.33E-08	Dual specificity kinase	BrainSpLMD|1196	OMIM|602989
U3	TXLNG	2.001191757	1.45E-08	Unclassified	BrainSpLMD|55787	OMIM|300677
U3	GNG5	1.282186404	1.46E-08	G protein	BrainSpLMD|2787;Eurexp|euxassay_007798|embryo	OMIM|600874
U3	TTC28.AS1	1.637120265	1.54E-08			
U3	LEPREL2	4.170870928	1.63E-08			
U3	WDR59	1.104792497	1.66E-08	Unclassified	BrainSpLMD|79726	OMIM|617418
U3	KHDRBS2	0.601773975	1.74E-08	RNA binding protein	BrainSpLMD|202559	SFARI||Autism, 4 - Minimal evidence;OMIM|610487
U3	BCAT2	2.329173055	1.80E-08	Enzyme: Aminotransferase	BrainSpLMD|587	OMIM|113530
U3	APOOL	2.383304802	1.82E-08	Unclassified	BrainSpLMD|139322	OMIM|300955
U3	STK35	1.60798636	1.84E-08	Serine/threonine kinase	BrainSpLMD|140901;Eurexp|euxassay_012066|Meckel's cartilage, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, otic capsule, pelvic girdle, scapula, temporal bone, tibia, turbinate	OMIM|609370
U3	DESI2	0.893305442	1.89E-08	Unclassified	BrainSpLMD|51029	OMIM|614638
U3	TUBG2	0.292346322	1.89E-08	Cytoskeletal associated protein	BrainSpLMD|27175;Eurexp|euxassay_003153|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, marginal layer, molar, olfactory, submandibular gland primordium, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|605785
U3	LRRC16A	1.889988206	2.07E-08			
U3	SNRNP40	0.926075786	2.15E-08	RNA binding protein	BrainSpLMD|9410;Eurexp|euxassay_006151|cortex, liver, lung, metanephros, submandibular gland primordium	OMIM|607797
U3	DNMT1	0.433969655	2.21E-08	DNA methyltransferase	BrainSpLMD|1786;BrainSpMouseDev|13212	OMIM|126375;HPO|1786|Adult onset, Apathy, Ataxia, Autosomal dominant inheritance, Cataplexy, Cerebellar atrophy, Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers, Dementia, Depressivity, Excessive daytime sleepiness, Excessive daytime somnolence, Hyperreflexia, Hyporeflexia, Impulsivity, Irritability, Memory impairment, Narcolepsy, Osteomyelitis, Primitive reflex, Progressive, Sensorineural hearing impairment, Sensory neuropathy, Spasticity
U3	C9orf3	1.749895977	2.28E-08	Aminopeptidase	BrainSpLMD|84909	
U3	PAIP1	0.358271186	2.36E-08	Translation regulatory protein	BrainSpLMD|10605	OMIM|605184
U3	TSC22D2	0.467438186	2.43E-08	Unclassified	BrainSpLMD|9819	OMIM|617724
U3	YIPF4	0.663286934	2.60E-08	Unclassified	BrainSpLMD|84272	OMIM|617534
U3	RPL28	0.854263006	3.04E-08	Ribosomal subunit	BrainSpLMD|6158	OMIM|603638
U3	UBL5	1.778172135	3.06E-08	Ubiquitin proteasome system protein	BrainSpLMD|59286	OMIM|606849
U3	MED17	0.748059706	3.52E-08	Transcription factor	BrainSpLMD|9440	OMIM|603810;HPO|9440|Autosomal recessive inheritance, Clonus, Diffuse cerebral atrophy, Dysphagia, Failure to thrive, Feeding difficulties, Global developmental delay, Hypsarrhythmia, Postnatal microcephaly, Progressive, Progressive microcephaly, Seizures, Spasticity
U3	RPS11P5	0.992957338	3.52E-08			
U3	HBS1L	0.803562378	3.53E-08	Translation regulatory protein	BrainSpLMD|10767	OMIM|612450
U3	MORF4L2	1.371045305	3.60E-08	Transcription regulatory protein	BrainSpLMD|9643;Eurexp|euxassay_007035|embryo	OMIM|300409
U3	NR6A1	3.891577555	3.62E-08	Nuclear receptor	BrainSpLMD|2649;BrainSpMouseDev|14312	OMIM|602778
U3	POLR1B	2.15127328	3.89E-08	RNA polymerase	BrainSpLMD|84172	OMIM|602000
U3	WTAP	1.27909793	4.06E-08	Unclassified	BrainSpLMD|9589	OMIM|605442
U3	CAPZA1	1.917265481	4.55E-08	Structural protein	BrainSpLMD|829;Eurexp|euxassay_000273|head mesenchyme, lung	OMIM|601580
U3	HNRNPD	1.299232594	4.59E-08	RNA binding protein	BrainSpLMD|3184	OMIM|601324
U3	CCPG1	0.706551372	4.62E-08	Unclassified	BrainSpLMD|9236;Eurexp|euxassay_010511|clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, maxilla, olfactory, orbito-sphenoid, rib, trigeminal V, vagus X	OMIM|611326
U3	BLCAP	0.297132911	4.88E-08	Integral membrane protein	BrainSpLMD|10904;Eurexp|euxassay_005827|brain, spinal cord	OMIM|613110
U3	DHTKD1	1.450936542	5.06E-08	Enzyme: Oxidoreductase	BrainSpLMD|55526	OMIM|614984;HPO|55526|Aminoaciduria, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Delayed speech and language development, Difficulty walking, Generalized hypotonia, Global developmental delay, Intellectual disability, mild, Microcephaly, Phenotypic variability, Skeletal muscle atrophy
U3	GPAA1	0.255769451	5.13E-08	Anchor protein	BrainSpLMD|8733	OMIM|603048
U3	SDCCAG3	1.169950694	5.34E-08	Unclassified	BrainSpLMD|10807	
U3	PDCD6IP	0.62956421	5.40E-08	Unclassified	BrainSpLMD|10015;Eurexp|euxassay_012643|hindgut, midgut, rectum, thymus primordium	OMIM|608074
U3	LRBA	2.516874935	5.48E-08	Anchor protein	BrainSpLMD|987;Eurexp|euxassay_011127|roof plate	SFARI||Autism, 4 - Minimal evidence;OMIM|606453;HPO|987|Arthritis, Asthma, Autoimmune hemolytic anemia, Autosomal recessive inheritance, Bronchiectasis, Chronic diarrhea, Chronic lung disease, Clubbing of fingers, Colitis, Conjunctivitis, Failure to thrive, Gastritis, Growth delay, Hypothyroidism, IgA deficiency, IgM deficiency, Immunodeficiency, Lymphadenopathy, Pneumonia, Progressive, Recurrent otitis media, Recurrent sinusitis, Thrombocytopenia
U3	TRIM45	1.450873322	5.49E-08	Transcription regulatory protein	BrainSpLMD|80263;Eurexp|euxassay_011322|axial skeleton, olfactory, vomeronasal organ	OMIM|609318
U3	E2F5	1.657008402	5.64E-08	Transcription factor	BrainSpLMD|1875;BrainSpMouseDev|13338	OMIM|600967
U3	PRPF38A	1.405937393	5.95E-08	Unclassified	BrainSpLMD|84950;Eurexp|euxassay_001967|incisor, submandibular gland primordium, vibrissa	OMIM|617031
U3	REST	2.011448441	6.63E-08	Transcription regulatory protein	BrainSpLMD|5978;BrainSpMouseDev|19475	OMIM|600571;HPO|5978|Abdominal pain, Gingival fibromatosis, Gingival overgrowth, Nephroblastoma
U3	CBX5	2.301306567	7.08E-08	DNA binding protein	BrainSpLMD|23468	OMIM|604478
U3	10-Sep	2.019105536	7.32E-08			
U3	RASSF3	3.414715217	7.43E-08	Unclassified	BrainSpLMD|283349;Eurexp|euxassay_002334|mesenchyme, tongue	OMIM|607019
U3	DPPA4	5.613380794	7.50E-08	Unclassified	BrainSpLMD|55211;Eurexp|euxassay_006817|olfactory, ovary, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vomeronasal organ	OMIM|614125
U3	GNL3	1.526895533	7.56E-08	Cell cycle control protein	BrainSpLMD|26354;Eurexp|euxassay_006219|cortex, incisor, left, left lung, mandible, marginal layer, maxilla, midgut, molar, neural retina, orbito-sphenoid, palatal shelf, right, right lung, submandibular gland primordium, testis, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|608011
U3	GTPBP8	1.461915428	7.77E-08	Unclassified	BrainSpLMD|29083	
U3	MT.ND1	0.822671181	8.87E-08			
U3	RPL13AP25	0.292935547	8.96E-08			
U3	HPS4	1.705635641	9.66E-08	Unclassified	BrainSpLMD|89781;Eurexp|euxassay_006298|loop, midgut	OMIM|606682;HPO|89781|Abnormal platelet granules, Albinism, Autosomal recessive inheritance, Ocular albinism, Pulmonary fibrosis
U3	RAB33B	0.701316606	1.08E-07	GTPase	BrainSpLMD|83452	OMIM|605950;HPO|83452|Autosomal recessive inheritance, Barrel-shaped chest, Broad femoral neck, Broad phalanx, Decreased body weight, Disproportionate short-trunk short stature, Flattened femoral head, Genu valgum, Hypoplasia of the odontoid process, Pectus carinatum, Pes planus, Platyspondyly, Short metacarpal, Short metatarsal, Short neck, Short phalanx of finger
U3	C9orf72	1.21761947	1.24E-07	Unclassified	BrainSpLMD|203228;Eurexp|euxassay_010754|anterior, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, molar, olfactory, trigeminal V, vagus X	OMIM|614260;HPO|203228|Abnormal brain FDG positron emission tomography, Abnormal lower motor neuron morphology, Abnormality of the cerebral white matter, Adult onset, Aggressive behavior, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apathy, Apraxia, Autosomal dominant inheritance, Cerebral atrophy, Collectionism, Delusions, Depressivity, Disinhibition, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, Dyspnea, EEG with continuous slow activity, Echolalia, Emotional blunting, Emotional lability, Extrapyramidal dyskinesia, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontotemporal cerebral atrophy, Frontotemporal dementia, Generalized muscle weakness, Gliosis, Grammar-specific speech disorder, Hallucinations, Hyperorality, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Muscle cramps, Muscle weakness, Neurodegeneration, Neuronal loss in central nervous system, Pain, Paralysis, Paraparesis, Parkinsonism, Perseveration, Personality changes, Poor speech, Rapidly progressive, Respiratory failure, Restlessness, Restrictive behavior, Skeletal muscle atrophy, Spasticity, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Tetraparesis, Thickened nuchal skin fold, Xerostomia
U3	IVD	0.786705615	1.28E-07	Enzyme: Dehydrogenase	BrainSpLMD|3712	OMIM|607036;HPO|3712|Autosomal recessive inheritance, Bone marrow hypocellularity, Coma, Dehydration, Global developmental delay, Hyperglycinuria, Ketoacidosis, Lethargy, Leukopenia, Metabolic acidosis, Pancytopenia, Seizures, Thrombocytopenia, Vomiting
U3	HSPH1	0.742379993	1.31E-07	Heat shock protein;Chaperone	BrainSpLMD|10808	OMIM|610703
U3	ARHGEF10	0.334375254	1.35E-07	Guanine nucleotide exchange factor	BrainSpLMD|9639	OMIM|608136;HPO|9639|Adult onset, Autosomal dominant inheritance, Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination
U3	MRPS25	1.720881324	1.40E-07	Ribosomal subunit	BrainSpLMD|64432	OMIM|611987
U3	LIAS	3.313315604	1.52E-07	Enzyme: Synthase	BrainSpLMD|11019	OMIM|607031;HPO|11019|Apnea, Autosomal recessive inheritance, Encephalopathy, Feeding difficulties, Flexion contracture, Generalized hypotonia, Growth delay, Hypertrophic cardiomyopathy, Increased serum lactate, Lactic acidosis, Microcephaly, Motor delay, Myoclonus, Profound global developmental delay, Respiratory insufficiency, Seizures, Severe global developmental delay, Sleep disturbance, Spastic tetraplegia
U3	PFKM	2.279792631	1.58E-07	Enzyme: Phosphotransferase	BrainSpLMD|5213;Eurexp|euxassay_018474|dorsal root ganglion, mantle layer, trigeminal V, vagus X, ventral grey horn, ventricular layer	OMIM|610681;HPO|5213|Anemia, Autosomal recessive inheritance, Cholelithiasis, Exercise intolerance, Exercise-induced muscle cramps, Exercise-induced myoglobinuria, Gout, Hemolytic anemia, Hyperuricemia, Increased muscle glycogen content, Increased total bilirubin, Jaundice, Muscle weakness, Myotonia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis, Skeletal muscle atrophy, Variable expressivity
U3	STRAP	0.895438789	1.63E-07	Cell cycle control protein	BrainSpLMD|11171;Eurexp|euxassay_009444|cervical, cervico-thoracic, clavicle, cortex, dorsal root ganglion, facial VII, incisor, lung, mantle layer, molar, neural retina, olfactory, pancreas, submandibular gland primordium, thymus primordium, trigeminal V, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|605986
U3	FOXP1	1.752343795	1.67E-07	Transcription factor	BrainSpLMD|27086;Eurexp|euxassay_012052|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, handplate, humerus, mantle layer, mesenchyme, metatarsus, nasal septum, orbito-sphenoid, pelvic girdle, rib, scapula, temporal bone, tibia, turbinate;BrainSpMouseDev|72814	SFARI||Autism, 2 - Strong candidate;OMIM|605515;COSMIC||ALL;HPO|27086|Aggressive behavior, Anemia, Autosomal dominant inheritance, B-cell lymphoma, Broad nasal tip, Constipation, Delayed gross motor development, Delayed speech and language development, Downslanted palpebral fissures, Fatigue, Fever, Generalized hypotonia, Hyperactivity, Hyperhidrosis, Hypertelorism, Intellectual disability, Macrocephaly, Nausea and vomiting, Nystagmus, Open mouth, Prominent forehead, Pulmonary infiltrates, Retrognathia, Short nose, Stereotypy, Strabismus, Weight loss
U3	PRMT5	0.858866507	1.69E-07	Enzyme: Methyltransferase	BrainSpLMD|10419	OMIM|604045
U3	CPED1	2.52971297	1.70E-07	Unclassified	BrainSpLMD|79974;Eurexp|euxassay_009303|capsule, dermis, ear, footplate, handplate, head mesenchyme, left lung, meninges, mesenchyme, midgut, right lung, stomach, vibrissa	
U3	AVIL	0.644570633	1.78E-07	Cytoskeletal protein	BrainSpLMD|10677;Eurexp|euxassay_007949|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vestibulocochlear VIII	OMIM|613397
U3	SRP19	0.710728003	1.88E-07	RNA binding protein	BrainSpLMD|6728	OMIM|182175
U3	INTS3	1.082691746	1.91E-07	Unclassified	BrainSpLMD|65123;Eurexp|euxassay_006847|embryo	OMIM|611347
U3	SON	0.349353001	2.21E-07	Transcription factor	BrainSpLMD|6651;Eurexp|euxassay_007178|adrenal gland, cervical, cervico-thoracic, dorsal root ganglion, floorplate, glossopharyngeal IX, heart, mantle layer, medulla oblongata, metencephalon, oesophagus, olfactory lobe, thoracic, trigeminal V, vagus X, ventricular layer	OMIM|182465;HPO|6651|Abnormality of the dentition, Abnormality of the ribs, Arachnoid cyst, Autosomal dominant inheritance, Cerebellar hypoplasia, Cleft palate, Cortical visual impairment, Craniosynostosis, Deeply set eye, Depressed nasal bridge, Developmental regression, Downslanted palpebral fissures, Facial asymmetry, Failure to thrive, Feeding difficulties, Flexion contracture, Frontal bossing, Generalized hypotonia, Global developmental delay, Hemivertebrae, High palate, Horseshoe kidney, Hypermetropia, Hypoplasia of the corpus callosum, Intellectual disability, Joint hypermobility, Kyphosis, Low-set ears, Narrow mouth, Optic atrophy, Scoliosis, Short foot, Short philtrum, Short stature, Small hand, Strabismus, Thin upper lip vermilion, Ventriculomegaly, Wide nasal bridge
U3	ZNF286B	1.090164717	2.22E-07	Unclassified		
U3	ZNF738	1.860466642	2.66E-07	Transcription regulatory protein	BrainSpLMD|148203	
U3	CAT	2.512014361	2.68E-07	Enzyme: Oxidoreductase	BrainSpLMD|847	OMIM|115500;HPO|847|Autosomal recessive inheritance, Oral ulcer, Reduced catalase activity
U3	SERPINH1	1.295552493	2.86E-07	Heat shock protein	BrainSpLMD|871	OMIM|600943;HPO|871|Autosomal recessive inheritance, Blue sclerae, Broad ribs, Chronic lung disease, Dentinogenesis imperfecta, Generalized hypotonia, Generalized joint laxity, Genu valgum, High forehead, High pitched voice, Inguinal hernia, Joint laxity, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Narrow chest, Narrow forehead, Nephrolithiasis, Osteopenia, Platyspondyly, Prominent forehead, Pyloric stenosis, Relative macrocephaly, Scoliosis, Shallow orbits, Short stature, Thin ribs, Triangular face, Vertebral compression fractures
U3	REC8	0.648334565	2.90E-07	Cell cycle control protein	BrainSpLMD|9985;Eurexp|euxassay_012260|cochlea, lung, mantle layer, metanephros, olfactory, ovary, pancreas, pituitary, stomach, thyroid, trigeminal V, urethra, ventral grey horn, ventricular layer	OMIM|608193
U3	CMTR2	1.579613478	3.30E-07	Unclassified	BrainSpLMD|55783	OMIM|616190
U3	ZBTB21	0.332538078	3.49E-07	Transcription regulatory protein	BrainSpLMD|49854	OMIM|616485
U3	SSR3	0.32353303	3.50E-07	Membrane transport protein	BrainSpLMD|6747	OMIM|606213
U3	BRD4	1.099595365	3.54E-07	Cell cycle control protein	BrainSpLMD|23476	SFARI||Autism, 4 - Minimal evidence;OMIM|608749;COSMIC||lethal midline carcinoma of young people
U3	ANKRD10.IT1	1.803320201	3.56E-07			
U3	ARGLU1	1.242779839	3.66E-07	Unclassified	BrainSpLMD|55082;Eurexp|euxassay_001755|choroid plexus, lateral recess	OMIM|614046
U3	ZDHHC21	1.434477465	3.70E-07	Integral membrane protein	BrainSpLMD|340481	OMIM|614605
U3	PAPD4	0.687906343	3.73E-07	Unclassified	BrainSpLMD|167153;Eurexp|euxassay_006512|embryo	OMIM|614121
U3	MAF1	0.84654382	3.94E-07	Transcription regulatory protein	BrainSpLMD|84232;BrainSpMouseDev|44719	OMIM|610210
U3	TRIP6	4.020031607	4.03E-07	Transcription regulatory protein	BrainSpLMD|7205	OMIM|602933
U3	SENP2	1.630239692	4.14E-07	Ubiquitin proteasome system protein	BrainSpLMD|59343	OMIM|608261
U3	VBP1	0.723334299	4.18E-07	Chaperone	BrainSpLMD|7411	OMIM|300133
U3	MDK	0.784527482	4.93E-07	Cytokine	BrainSpLMD|4192;Eurexp|euxassay_000525|anal region, gut, head mesenchyme, lung, mesenchyme, metanephros, penis, physiological umbilical hernia, spleen primordium, trunk mesenchyme, ventricular layer	OMIM|162096
U3	ING1	0.378006458	5.66E-07	Transcription regulatory protein	BrainSpLMD|3621	OMIM|601566;HPO|3621|Autosomal recessive inheritance, Squamous cell carcinoma
U3	HSPE1P2	1.065225446	6.05E-07			
U3	TMEM41B	0.600668389	6.42E-07	Integral membrane protein		
U3	GOLGA8B	1.410671633	6.55E-07	Unclassified	BrainSpLMD|440270	OMIM|609619
U3	PFAS	1.991720269	7.05E-07	Enzyme: Synthase	BrainSpLMD|5198;Eurexp|euxassay_014197|liver, marginal layer, ventricular layer	OMIM|602133
U3	ANAPC4	0.469300633	7.11E-07	Cell cycle control protein	BrainSpLMD|29945;Eurexp|euxassay_001474|cervico-thoracic, dorsal root ganglion, thoracic	OMIM|606947
U3	RBMS3	3.228246531	8.46E-07	RNA binding protein	BrainSpLMD|27303	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605786
U3	MTRNR2L12	1.256674542	9.50E-07			
U3	DNPEP	2.295682926	9.56E-07	Aminopeptidase	BrainSpLMD|23549	OMIM|611367
U3	RNF157	1.218195584	9.72E-07	Ubiquitin proteasome system protein		
U3	RBM7	1.638621137	1.12E-06	RNA binding protein	BrainSpLMD|10179	OMIM|612413
U3	WIPF3	1.104620759	1.21E-06	Cytoskeletal associated protein	BrainSpLMD|644150	OMIM|612432
U3	ARRDC3	1.259336093	1.31E-06	Unclassified	BrainSpLMD|57561	OMIM|612464
U3	PHF6	0.45283601	1.34E-06	Transcription regulatory protein	BrainSpLMD|84295;Eurexp|euxassay_005159|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, eyelid, glossopharyngeal IX, limb, liver, lung, metanephros, naris, olfactory, penis, respiratory, retina, spinal cord, submandibular gland primordium, tail, thoracic, thymus primordium, trachea, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|300414;COSMIC||ETP ALL, Boerjeson-Forssman-Lehmann syndrome;HPO|84295|Blepharophimosis, Broad foot, Camptodactyly of toe, Cervical spinal canal stenosis, Coarse facial features, Cryptorchidism, Decreased testicular size, Deeply set eye, Delayed puberty, EEG abnormality, Feeding difficulties in infancy, Generalized hypotonia, Gynecomastia, Hypogonadism, Hypoplasia of penis, Hypoplasia of the prostate, Intellectual disability, Intellectual disability, severe, Kyphosis, Large earlobe, Macrotia, Microcephaly, Micropenis, Muscular hypotonia, Nystagmus, Obesity, Prominent supraorbital ridges, Ptosis, Scheuermann-like vertebral changes, Scoliosis, Scrotal hypoplasia, Seizures, Short stature, Short toe, Shortening of all distal phalanges of the fingers, Shortening of all middle phalanges of the fingers, Sparse hair, Tapered finger, Thick eyebrow, Thickened calvaria, Truncal obesity, Visual impairment, Widely spaced toes, X-linked recessive inheritance
U3	ATF7IP2	2.853434115	1.56E-06	Unclassified	BrainSpLMD|80063	OMIM|613645
U3	ILF3	0.270214486	1.61E-06	Transcription factor;RNA binding protein	BrainSpLMD|3609	OMIM|603182
U3	TTK	1.616519747	1.68E-06	Dual specificity kinase	BrainSpLMD|7272	OMIM|604092
U3	NUDC	2.613395213	1.91E-06	Cell cycle control protein	BrainSpLMD|10726	OMIM|610325
U3	BRD8	2.021689409	2.04E-06	Transcription regulatory protein	BrainSpLMD|10902;Eurexp|euxassay_019636|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	OMIM|602848
U3	6-Mar	1.420629953	2.05E-06			
U3	BRIX1	2.195951156	2.05E-06	Unclassified	BrainSpLMD|55299	
U3	EEF2K	3.484093885	2.19E-06	Serine/threonine kinase	BrainSpLMD|29904	OMIM|606968
U3	EED	0.474240486	2.25E-06	Transcription regulatory protein	BrainSpLMD|8726;Eurexp|euxassay_017307|excretory component, liver, lung, thymus primordium, turbinate bones, ventricular layer;BrainSpMouseDev|13404	OMIM|605984;COSMIC||malignant peripheral nerve sheath tumours, MDS and related, lung adenocarcinoma;HPO|8726|Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Accelerated skeletal maturation, Broad foot, Broad forehead, Broad thumb, Camptodactyly of finger, Deep philtrum, Deep-set nails, Feeding difficulties in infancy, Fine hair, Global developmental delay, Hoarse voice, Hypertelorism, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Joint stiffness, Large hands, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Micrognathia, Redundant skin, Retrognathia, Round face, Spasticity, Tall stature, Thin nail
U3	GALT	0.415546265	2.37E-06	Enzyme: Nucleotidyltransferase	BrainSpLMD|2592	OMIM|606999;HPO|2592|Abnormal bleeding, Abnormality of the ovary, Aminoaciduria, Autosomal recessive inheritance, Cataract, Cirrhosis, Decreased fertility in females, Decreased liver function, Diarrhea, Failure to thrive, Feeding difficulties, Galactosuria, Hemolytic anemia, Hepatic failure, Hepatomegaly, Hyperchloremic metabolic acidosis, Hypergalactosemia, Hypergonadotropic hypogonadism, Hypoglycemia, Impairment of galactose metabolism, Intellectual disability, Jaundice, Metabolic acidosis, Nausea and vomiting, Osteoporosis, Premature ovarian insufficiency, Speech apraxia, Speech articulation difficulties, Vomiting, Weight loss
U3	HEPH	3.749569328	2.41E-06	Enzyme: Oxidase	BrainSpLMD|9843	OMIM|300167
U3	DNMT3A	0.990710756	2.74E-06	DNA methyltransferase	BrainSpLMD|1788;BrainSpMouseDev|13214	SFARI||Autism, 3 - Suggestive evidence;OMIM|602769;COSMIC||AML;HPO|1788|Autosomal dominant inheritance, Blepharophimosis, Intellectual disability, Macrocephaly, Round face, Tall stature
U3	DCN	2.006192388	2.83E-06	Extracellular matrix protein	BrainSpLMD|1634;BrainSpMouseDev|12959	OMIM|125255;HPO|1634|Autosomal dominant inheritance, Congenital corneal dystrophy, Increased corneal thickness, Progressive visual loss
U3	SDHC	0.366609279	2.96E-06	Enzyme: Dehydrogenase	BrainSpLMD|6391	OMIM|602413;COSMIC||paraganglioma, pheochromocytoma;HPO|6391|Abdominal pain, Abnormality of the penis, Adenoma sebaceum, Adrenal pheochromocytoma, Adult onset, Ataxia, Autosomal dominant inheritance, Breast carcinoma, Cavernous hemangioma, Chemodectoma, Cognitive impairment, Colorectal polyposis, Conjunctival hamartoma, Constipation, Cranial nerve paralysis, Dysphagia, Elevated circulating catecholamine level, Episodic paroxysmal anxiety, Extraadrenal pheochromocytoma, Fatigue, Furrowed tongue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Generalized hyperkeratosis, Global developmental delay, Glomus jugular tumor, Goiter, Hamartomatous polyposis, Hearing impairment, Hoarse voice, Hyperhidrosis, Hyperpigmentation of the skin, Hypertension associated with pheochromocytoma, Intellectual disability, Intestinal obstruction, Large hands, Lipoma, Loss of voice, Macrocephaly, Macroglossia, Macule, Melanocytic nevus, Meningioma, Mucosal telangiectasiae, Nausea and vomiting, Neoplasm of the gastrointestinal tract, Neoplasm of the stomach, Neurofibromas, Palmoplantar keratoderma, Palpitations, Papilloma, Papule, Paraganglioma, Pulsatile tinnitus, Recurrent paroxysmal headache, Sarcoma, Sporadic, Subcutaneous nodule, Tachycardia, Tinnitus, Urticaria, Vocal cord paralysis, Weight loss
U3	KMT2D	2.414457777	2.98E-06	Transcription factor	BrainSpLMD|8085;BrainSpMouseDev|120035	OMIM|602113;COSMIC||medulloblastoma, renal;HPO|8085|Abnormal dermatoglyphics, Abnormal vertebral morphology, Abnormality of the cardiac septa, Abnormality of the dentition, Anal atresia, Anal stenosis, Anoperineal fistula, Atrial septal defect, Autoimmune thrombocytopenia, Autosomal dominant inheritance, Blue sclerae, Butterfly vertebrae, Cafe-au-lait spot, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Conductive hearing impairment, Congenital hip dislocation, Congenital hypothyroidism, Crossed fused renal ectopia, Cryptorchidism, Depressed nasal tip, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemivertebrae, Hemolytic anemia, High palate, Highly arched eyebrow, Hirsutism, Hydrocephalus, Hypodontia, Intellectual disability, Intestinal malrotation, Joint hyperflexibility, Joint hypermobility, Long eyelashes, Long palpebral fissure, Macrotia, Malabsorption, Microcephaly, Microdontia, Micropenis, Muscular hypotonia, Posteriorly rotated ears, Postnatal growth retardation, Preauricular pit, Premature thelarche, Prominent eyelashes, Prominent fingertip pads, Protruding ear, Ptosis, Recurrent aspiration pneumonia, Recurrent infections, Recurrent otitis media, Scoliosis, Seizures, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Sparse and thin eyebrow, Sparse lateral eyebrow, Strabismus, Ureteropelvic junction obstruction, Ventricular septal defect, Ventriculomegaly, Wide nasal bridge, Widely spaced teeth
U3	C5orf15	1.379847449	3.00E-06	Unclassified	BrainSpLMD|56951	
U3	FAM73A	0.945075129	3.15E-06			
U3	TMA16	0.794849431	3.62E-06	Unclassified	BrainSpLMD|55319;Eurexp|euxassay_001460|lobe, urethra	
U3	RAB2B	1.902820616	3.79E-06	GTPase	BrainSpLMD|84932;Eurexp|euxassay_004144|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, glossopharyngeal IX, hindbrain, midbrain, spinal cord, telencephalon, thoracic, trigeminal V	OMIM|607466
U3	TP53	2.48004428	3.79E-06	Transcription factor	BrainSpLMD|7157;Eurexp|euxassay_017977|submandibular gland primordium, thymus primordium;BrainSpMouseDev|21816	OMIM|191170;COSMIC||breast, colorectal, lung, sarcoma, adrenocortical, glioma, Spitzoid tumour, multiple other tumour types, breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types;HPO|7157|Abnormal lactate dehydrogenase activity, Abnormal platelet morphology, Abnormality of metabolism/homeostasis, Abnormality of the fallopian tube, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphysis, Acute leukemia, Adrenocortical carcinoma, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast carcinoma, Chest pain, Choroid plexus papilloma, Colon cancer, Elevated alkaline phosphatase, Headache, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hydrocephalus, Increased megakaryocyte count, Joint swelling, Lung adenocarcinoma, Lymphoma, Micronodular cirrhosis, Myocardial infarction, Nausea, Neoplasia of the nasopharynx, Neoplasm of the adrenal cortex, Neoplasm of the colon, Neoplasm of the nervous system, Neoplasm of the pancreas, Neoplasm of the skin, Neoplasm of the stomach, Nephroblastoma, Osteolysis, Osteosarcoma, Ovarian neoplasm, Pain, Papilledema, Paresthesia, Polygenic inheritance, Primary peritoneal carcinoma, Progressive encephalopathy, Prolonged bleeding time, Prostate cancer, Prostate neoplasm, Renal cell carcinoma, Retinoblastoma, Seizures, Soft tissue sarcoma, Somatic mutation, Splenomegaly, Subacute progressive viral hepatitis, Transient ischemic attack, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Venous thrombosis, Vomiting
U3	PAPOLG	0.931547685	3.80E-06	RNA polymerase	BrainSpLMD|64895	OMIM|616865
U3	IDH3A	0.462382656	3.87E-06	Enzyme: Dehydrogenase	BrainSpLMD|3419;Eurexp|euxassay_010648|glossopharyngeal IX, lobe, mandible, midgut, orbito-sphenoid, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, ventral grey horn, ventricle, vibrissa	OMIM|601149
U3	MTA2	1.537885415	3.89E-06	Regulatory/other subunit	BrainSpLMD|9219;BrainSpMouseDev|23693	OMIM|603947
U3	RP11.737O24.3	0.439956928	4.02E-06			
U3	SRSF6	1.947513982	4.20E-06	RNA binding protein	BrainSpLMD|6431;Eurexp|euxassay_012639|pituitary, ventricular layer, vibrissa	OMIM|601944
U3	ZNF532	0.55099226	4.57E-06	Transcription factor	BrainSpLMD|55205	
U3	ZBTB37	0.88971117	4.76E-06	Unclassified	BrainSpLMD|84614	
U3	RP11.556K13.1	0.677272103	4.77E-06			
U3	PRR14L	0.574130284	4.92E-06	Unclassified	BrainSpLMD|253143	
U3	AC022210.2	0.809942285	5.23E-06			
U3	MAD1L1	1.842330614	5.63E-06	Transcription regulatory protein;Unclassified	BrainSpLMD|8379	OMIM|602686;HPO|8379|Autosomal dominant inheritance, Prostate cancer
U3	FBLN1	2.012255206	6.97E-06	Extracellular matrix protein	BrainSpLMD|2192;Eurexp|euxassay_011935|bladder, meninges, mesenchyme, midgut, nasal cavity, stomach, valve	OMIM|135820;HPO|2192|Autosomal dominant inheritance, Carpal synostosis, Metacarpal synostosis, Metatarsal synostosis, Polydactyly, Tarsal synostosis, Toe syndactyly
U3	CHMP3	1.052374292	7.11E-06	Unclassified	BrainSpLMD|51652	OMIM|610052
U3	TADA3	0.434240238	7.22E-06	Transcription regulatory protein	BrainSpLMD|10474	OMIM|602945
U3	LSM14B	1.08299075	7.87E-06	Unclassified	BrainSpLMD|149986	
U3	ZMYND8	0.466754417	8.22E-06	Transcription regulatory protein	BrainSpLMD|23613	OMIM|615713
U3	EMC10	3.036562891	8.27E-06	Unclassified	BrainSpLMD|284361	OMIM|614545
U3	RP11.137N23.1	0.339911528	8.35E-06			
U3	C9orf41	2.232194067	8.86E-06			
U3	NCAPG2	1.747771964	9.64E-06	Unclassified	BrainSpLMD|54892;Eurexp|euxassay_002384|axial muscle, epithelium, lobe, olfactory, ventricular layer	OMIM|608532
U3	SPC24	2.702384641	9.86E-06	Cell cycle control protein	BrainSpLMD|147841;Eurexp|euxassay_006353|ventricular layer	OMIM|609394
U3	ADAM9	0.778887964	1.02E-05	Metallo protease	BrainSpLMD|8754	OMIM|602713;HPO|8754|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal recessive inheritance, Cone/cone-rod dystrophy, Nyctalopia, Photophobia, Visual impairment
U3	TMEM97	0.265712477	1.02E-05	Unclassified	BrainSpLMD|27346;Eurexp|euxassay_006766|axial skeleton, clavicle, cranium, digit 1, digit 2, digit 3, digit 4, digit 5, femur, fibula, handplate, humerus, incisor, liver, mandible, maxilla, naris, pancreas, petrous part, radius, rib, scapula, submandibular gland primordium, tibia, turbinate bones, ulna, vibrissa	OMIM|612912
U3	WNT5A	2.366254817	1.03E-05	Ligand	BrainSpLMD|7474;BrainSpMouseDev|22175	OMIM|164975;HPO|7474|Anteverted nares, Autosomal dominant inheritance, Bifid distal phalanx of toe, Bifid tongue, Brachydactyly, Broad thumb, Broad toe, Clinodactyly, Clinodactyly of the 5th finger, Clitoral hypoplasia, Cryptorchidism, Curly eyelashes, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Downturned corners of mouth, Duplication of the distal phalanx of hand, Epicanthus, Euryblepharon, Flat face, Frontal bossing, Gingival overgrowth, Global developmental delay, Hemivertebrae, High, narrow palate, Hydronephrosis, Hypertelorism, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic labia minora, Inguinal hernia, Intellectual disability, Long eyelashes, Long palpebral fissure, Long philtrum, Macrocephaly, Macroglossia, Malar flattening, Median cleft lip and palate, Mesomelia, Micrognathia, Micromelia, Micropenis, Midface retrusion, Nevus flammeus, Open bite, Pectus excavatum, Posteriorly rotated ears, Prominent forehead, Proptosis, Radial deviation of finger, Renal duplication, Retrognathia, Right ventricular outlet obstruction, Severe short stature, Short hard palate, Short middle phalanx of the 5th finger, Short nose, Short palm, Thin upper lip vermilion, Triangular mouth, Umbilical hernia, Upslanted palpebral fissure, Wide anterior fontanel, Wide nasal bridge, Wide nose
U3	DNAH17	1.650434577	1.04E-05	Unclassified	BrainSpLMD|8632	SFARI||Autism, 4 - Minimal evidence;OMIM|610063
U3	CCNC	0.74074563	1.10E-05	Cell cycle control protein	BrainSpLMD|892	OMIM|123838;COSMIC||T-ALL
U3	MAP3K1	0.701993439	1.16E-05	Serine/threonine kinase	Eurexp|euxassay_011095|calyces, incisor, larynx, mantle layer, molar, naris, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, renal/urinary system, sublingual gland primordium, submandibular gland primordium, thyroid, vibrissa	OMIM|600982;COSMIC||luminal A breast, 46, XY sex reversal 6;HPO|4214|Abnormal sex determination, Abnormality of the labia, Abnormality of the scrotum, Ambiguous genitalia, Autosomal dominant inheritance, Azoospermia, Chordee, Clitoral hypertrophy, Cryptorchidism, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Dysgerminoma, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,XY karyotype, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hypergonadotropic hypogonadism, Hypogonadotrophic hypogonadism, Hypoplasia of the vagina, Hypospadias, Male infertility, Male pseudohermaphroditism, Micropenis, Osteoporosis, Polycystic ovaries, Primary amenorrhea, Sex reversal, Sparse axillary hair, Sparse pubic hair, Streak ovary, Testicular dysgenesis, Urogenital sinus anomaly, Vanishing testis
U3	SDC1	3.742164969	1.18E-05	Cell surface receptor	BrainSpLMD|6382;Eurexp|euxassay_003549|lung, stomach, vibrissa	OMIM|186355
U3	RP11.452L6.1	1.038300788	1.18E-05			
U3	HELLS	0.555450236	1.32E-05	DNA binding protein	BrainSpLMD|3070	OMIM|603946;HPO|3070|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Congenital onset, Decreased antibody level in blood, Depressed nasal bridge, Epicanthus, Global developmental delay, Hypertelorism, Intellectual disability, Lymphopenia, Macrocephaly, Malabsorption, Micrognathia, Recurrent infections, Recurrent respiratory infections, Short stature
U3	BUB3	1.039896958	1.34E-05	Cell cycle control protein	BrainSpLMD|9184;Eurexp|euxassay_004484|hindbrain, lateral wall, mantle layer, saccule, utricle	OMIM|603719;HPO|9184|Abnormality of vision, Ascites, Cataract, Corneal opacity, Dandy-Walker malformation, Epicanthus, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Polyhydramnios, Short stature, Triangular face
U3	GLYATL1P2	2.931939513	1.37E-05			
U3	GSPT1	1.797918106	1.42E-05	Cell cycle control protein	BrainSpLMD|2935	OMIM|139259
U3	ULBP1	0.319096927	1.49E-05	Ligand	BrainSpLMD|80329	OMIM|605697
U3	CALR	1.030199858	1.50E-05	Chaperone	BrainSpLMD|811	OMIM|109091;COSMIC||MPN, MDS;HPO|811|Abnormal platelet morphology, Abnormality of the skeletal system, Acrocyanosis, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Chest pain, Hypertension, Impaired platelet aggregation, Increased megakaryocyte count, Myelofibrosis, Myeloproliferative disorder, Myocardial infarction, Paresthesia, Prolonged bleeding time, Somatic mutation, Splenomegaly, Thrombocytosis, Transient ischemic attack, Venous thrombosis
U3	AK2	2.168368514	1.50E-05	Enzyme: Phosphotransferase	BrainSpLMD|204;Eurexp|euxassay_001711|axial muscle, cortex, foregut-midgut junction, hindgut, lobe, midgut, molar, nucleus pulposus, orbito-sphenoid, rectum, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|103020;HPO|204|Abnormality of mitochondrial metabolism, Abnormality of neutrophils, Abnormality of the thymus, Absent cellular immunity, Anemia, Aplasia/Hypoplasia of the thymus, Autosomal recessive inheritance, Cellular immunodeficiency, Chronic otitis media, Congenital agranulocytosis, Decreased antibody level in blood, Diarrhea, Failure to thrive, Fever, Hearing impairment, Leukopenia, Lymphopenia, Malabsorption, Recurrent respiratory infections, Sepsis, Severe combined immunodeficiency, Weight loss
U3	IBA57	2.132879896	1.60E-05	Unclassified		OMIM|615316;HPO|200205|Abnormality of mitochondrial metabolism, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Babinski sign, Cerebral atrophy, Congenital onset, Distal sensory impairment, Encephalopathy, High palate, Hypoplasia of the corpus callosum, Intrauterine growth retardation, Lactic acidosis, Metabolic acidosis, Microcephaly, Optic atrophy, Peripheral axonal neuropathy, Polyhydramnios, Polymicrogyria, Retrognathia, Severe muscular hypotonia, Slow progression, Spastic paraplegia, Visual field defect, Visual impairment, Wide intermamillary distance
U3	GDPGP1	2.379212093	1.73E-05	Unclassified		
U3	ZNF433	0.508997034	1.79E-05	DNA binding protein	BrainSpLMD|163059	
U3	ZNF300P1	1.822926911	1.83E-05			
U3	RPS20P14	0.644698169	1.94E-05			
U3	AC096664.1	0.324298692	1.97E-05			
U3	PPIE	0.324685996	1.99E-05	Enzyme: Isomerase;RNA binding protein	BrainSpLMD|10450	OMIM|602435
U3	HDDC2	1.581703041	2.04E-05	Unclassified	BrainSpLMD|51020	
U3	MT.TC	0.800628822	2.12E-05			
U3	ZNF442	3.298831637	2.39E-05	DNA binding protein	BrainSpLMD|79973	
U3	NDUFB8	0.733868246	2.52E-05	Enzyme: Oxidoreductase	BrainSpLMD|4714	OMIM|602140
U3	PSMD10	1.616973162	2.60E-05	Regulatory/other subunit	BrainSpLMD|5716	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300880
U3	RPS4Y1	1.814813004	2.74E-05	Ribosomal subunit	BrainSpLMD|6192;BrainSpMouseDev|19865	OMIM|470000
U3	CTC.444N24.8	2.858977223	2.91E-05			
U3	ERLEC1	1.887042265	2.95E-05	Unclassified	BrainSpLMD|27248;Eurexp|euxassay_004847|mandible, maxilla, orbito-sphenoid, rib	OMIM|611229
U3	ZFP30	1.625067172	3.14E-05	DNA binding protein	BrainSpLMD|22835	OMIM|617317
U3	KHSRP	1.937464805	3.15E-05	Transcription regulatory protein	BrainSpLMD|8570	OMIM|603445
U3	TBP	1.288864065	3.25E-05	Transcription factor	BrainSpLMD|6908	OMIM|600075;HPO|6908|Abnormal pyramidal signs, Aggressive behavior, Apraxia, Ataxia, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, Behavioral abnormality, Blepharospasm, Bradykinesia, Broad-based gait, Cerebellar Purkinje layer atrophy, Cerebellar atrophy, Chorea, Confusion, Depressivity, Diffuse cerebral atrophy, Dysarthria, Dysmetria, Dysphagia, Dystonia, Frontal lobe dementia, Frontal release signs, Gait ataxia, Gait disturbance, Gaze-evoked nystagmus, Generalized cerebral atrophy/hypoplasia, Gliosis, Hallucinations, Impaired pursuit initiation and maintenance, Intention tremor, Lack of insight, Limb ataxia, Mental deterioration, Mutism, Myoclonus, Neuronal loss in central nervous system, Paranoia, Parkinsonism, Positive Romberg sign, Progressive, Rigidity, Seizures, Spasticity, Torticollis, Urinary incontinence, Writer's cramp
U3	EXT2	0.318789217	3.48E-05	Enzyme: Glycosyltransferase	BrainSpLMD|2132	OMIM|608210;COSMIC||exostoses, osteosarcoma;HPO|2132|Abnormality of femur morphology, Abnormality of the dentition, Abnormality of the humerus, Abnormality of the metaphysis, Abnormality of tibia morphology, Anteverted nares, Aseptic necrosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone pain, Brachycephaly, Broad nasal tip, Cervical myelopathy, Chondrosarcoma, Coarse facial features, Constipation, Coxa vara, Cranial nerve paralysis, Cryptorchidism, Decreased skull ossification, Depressed nasal tip, Downturned corners of mouth, Epicanthus, Exostoses, Failure to thrive, Gastroesophageal reflux, Generalized hypotonia, Genu valgum, Global developmental delay, Hypertelorism, Hypoplasia of the ulna, Infantile onset, Juvenile onset, Macrocephaly, Madelung deformity, Madelung-like forearm deformities, Micrognathia, Micromelia, Micropenis, Multiple exostoses, Muscle weakness, Nystagmus, Overlapping toe, Parietal foramina, Pelvic bone exostoses, Peripheral nerve compression, Poor speech, Prominent nasal bridge, Protuberances at ends of long bones, Radial bowing, Rib exostoses, Scapular exostoses, Scoliosis, Seizures, Short metacarpal, Short philtrum, Short stature, Strabismus, Underdeveloped nasal alae, Ventricular septal defect
U3	TMEM246	0.713502661	3.76E-05	Unclassified	BrainSpLMD|84302;Eurexp|euxassay_002939|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nucleus pulposus, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	
U3	MT.RNR1	1.145031086	3.84E-05			
U3	PDLIM7	0.665852641	3.91E-05	Adapter molecule		OMIM|605903
U3	TCEB1	1.475934567	3.98E-05			
U3	FAM210A	2.2086299	4.07E-05	Unclassified	BrainSpLMD|125228	
U3	MRPL40	1.581889527	4.20E-05	Ribosomal subunit	BrainSpLMD|64976	OMIM|605089
U3	MSI1	0.360364966	4.54E-05	RNA binding protein	BrainSpLMD|4440	OMIM|603328
U3	CST3	0.460750749	5.18E-05	Protease inhibitor	BrainSpLMD|1471;Eurexp|euxassay_004853|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|12793	OMIM|604312;HPO|1471|Autosomal dominant inheritance, Cerebral amyloid angiopathy, Cerebral hemorrhage, Dementia, Generalized amyloid deposition, Intracranial hemorrhage, Stroke
U3	COLEC12	2.299218473	5.25E-05	Cell surface receptor	BrainSpLMD|81035;Eurexp|euxassay_010114|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, left lung, meninges, mesenchyme, mesentery, mesothelium, midgut, naris, oesophagus, orbito-sphenoid, otic capsule, pelvic girdle, peritoneal cavity, petrous part, rib, right lung, scapula, sternum, stomach, tibia, trachea, turbinate bones, vault of skull	OMIM|607621
U3	EWSR1	0.590551174	5.29E-05	RNA binding protein	BrainSpLMD|2130	OMIM|133450;COSMIC||Ewing sarcoma, desmoplastic small round cell tumour, ALL, clear cell sarcoma, sarcoma, myoepithelioma, mesothelioma;HPO|2130|Abdominal distention, Abdominal pain, Abnormality of the peritoneum, Ewing's sarcoma, Hepatomegaly, Ileus, Mediastinal lymphadenopathy, Nausea and vomiting, Sarcoma, Somatic mutation
U3	MIS18A	1.390203219	5.33E-05	Unclassified	BrainSpLMD|54069	
U3	PRPF39	0.93978649	5.41E-05	Unclassified	BrainSpLMD|55015	SFARI||Autism, 4 - Minimal evidence;OMIM|614907
U3	ISYNA1	2.074522173	5.46E-05	Enzyme: Isomerase	BrainSpLMD|51477	OMIM|611670
U3	MTFMT	3.027167877	5.55E-05	Enzyme: Transferase	BrainSpLMD|123263	OMIM|611766;HPO|123263|Abnormality of the cerebral white matter, Autosomal recessive inheritance, Cognitive impairment, Delayed speech and language development, Global developmental delay, Incoordination, Increased CSF lactate, Phenotypic variability, Unsteady gait
U3	ARPC5	0.844209847	5.58E-05	Cytoskeletal associated protein	BrainSpLMD|10092;Eurexp|euxassay_005699|embryo	OMIM|604227
U3	PAK1	1.074215044	5.71E-05	Serine/threonine kinase	BrainSpLMD|5058;Eurexp|euxassay_018852|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, incisor, mandible, maxilla, midbrain, molar, neural retina, spinal cord, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|18245	OMIM|602590
U3	SYNJ2BP	1.193144055	5.78E-05	Integral membrane protein	BrainSpLMD|55333	OMIM|609411
U3	RTTN	2.341939596	6.07E-05	Unclassified	BrainSpLMD|25914	OMIM|610436;HPO|25914|Abnormality of the corpus callosum, Autosomal recessive inheritance, Dysarthria, EEG abnormality, Intellectual disability, moderate, Microcephaly, Mild short stature, Polymicrogyria, Poor speech, Seizures
U3	ANKRD32	1.02246362	6.32E-05			
U3	RP11.466H18.1	0.848739593	6.53E-05			
U3	DCAF16	1.365676774	6.55E-05	Unclassified	BrainSpLMD|54876	
U3	ZNRD1	1.51611784	6.88E-05	Transcription factor	BrainSpLMD|30834	OMIM|607525
U3	ANXA7	1.114382702	6.94E-05	Calcium binding protein	BrainSpLMD|310	OMIM|186360
U3	EIF2B1	2.02668602	6.98E-05	Translation regulatory protein	BrainSpLMD|1967;Eurexp|euxassay_000005|anterior epithelium, cerebral cortex, cervico-thoracic, chondrocranium, cortical region, dermis, dorsal root ganglion, epithelium, facial VII, frontal bone primordium, ganglion, glossopharyngeal IX, inferior, inter-parietal bone primordium, left lung, liver, lobe, lung, male, mantle layer, marginal layer, medulla oblongata, midbrain, middle, nucleus polposus, olfactory lobe, parietal bone, petrous part, physiological umbilical hernia, pineal primordium, squamous part, submandibular gland primordium, telencephalon, temporal bone, thoracic, tooth, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|606686;HPO|1967|Autosomal recessive inheritance, CNS demyelination, Cerebral hypomyelination, Cessation of head growth, Decreased circulating progesterone, Delusions, Developmental regression, Dysarthria, Emotional lability, Generalized hypotonia, Juvenile onset, Lethargy, Leukoencephalopathy, Macrocephaly, Memory impairment, Optic atrophy, Personality changes, Premature ovarian insufficiency, Primary gonadal insufficiency, Secondary amenorrhea, Seizures, Spasticity, Unsteady gait
U3	BFAR	1.439230591	7.17E-05	Regulatory/other subunit	BrainSpLMD|51283	
U3	GIGYF1	1.585605424	7.25E-05	Unclassified	BrainSpLMD|64599;Eurexp|euxassay_007703|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|612064
U3	EIF5A	0.833429861	7.33E-05	Translation Factor	BrainSpLMD|1984	OMIM|600187
U3	TWISTNB	0.363455131	7.47E-05	Transcription factor	BrainSpLMD|221830	OMIM|608312
U3	TMEM9	1.816513327	7.52E-05	Integral membrane protein	BrainSpLMD|252839;Eurexp|euxassay_003611|choroid plexus, incisor, lateral recess, molar	OMIM|616877
U3	MOAP1	1.201489615	8.01E-05	Unclassified	BrainSpLMD|64112;Eurexp|euxassay_012340|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vomeronasal organ	OMIM|609485
U3	KIAA1430	0.690419143	8.53E-05			
U3	DR1	0.550881591	9.22E-05	Transcription regulatory protein	BrainSpLMD|1810	OMIM|601482
U3	FAM228B	1.891908447	9.41E-05			
U3	ZNF131	1.210906762	0.000101136	Transcription factor	BrainSpLMD|7690;Eurexp|euxassay_002507|axial muscle, axial skeleton, dorsal root ganglion	OMIM|604073
U3	SHISA2	1.69060365	0.000102106	Integral membrane protein	BrainSpLMD|387914	OMIM|617324
U3	AFMID	1.991672341	0.000102698	Unclassified		
U3	ARL16	1.738764371	0.000108936	GTPase		
U3	USP19	1.9097525	0.000114161	Ubiquitin proteasome system protein		OMIM|614471
U3	SETD8	1.523024624	0.000116716			
U3	SF3B6	1.143200363	0.000122751		BrainSpLMD|51639	OMIM|607835
U3	ASXL1	0.989052389	0.000135355	Transcription regulatory protein	BrainSpLMD|171023	OMIM|612990;COSMIC||MDS, CMML, Bohring-Opitz syndrome;HPO|171023|Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Abnormality of the optic nerve, Abnormality of the pancreas, Accessory oral frenulum, Agenesis of corpus callosum, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Biparietal narrowing, Broad alveolar ridges, Broad palm, Camptodactyly, Camptodactyly of finger, Cerebral cortical atrophy, Cleft palate, Cleft upper lip, Convex nasal ridge, Dandy-Walker malformation, Death in infancy, Deep palmar crease, Deep plantar creases, Delayed peripheral myelination, Dislocated radial head, Elbow dislocation, Facial hemangioma, Failure to thrive, Feeding difficulties, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Heterotopia, Hirsutism, Hyperechogenic pancreas, Hypertelorism, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, profound, Intellectual disability, severe, Intestinal malrotation, Intrauterine growth retardation, Limitation of joint mobility, Long face, Low anterior hairline, Low-set ears, Mesomelic/rhizomelic limb shortening, Microcephaly, Micrognathia, Myelodysplasia, Myopia, Narrow chest, Narrow forehead, Narrow palate, Nevus flammeus, Nevus flammeus of the forehead, Overlapping toe, Platyspondyly, Polyhydramnios, Posteriorly rotated ears, Prominent forehead, Prominent metopic ridge, Proptosis, Retinopathy, Retrognathia, Sacral dimple, Seizures, Short thorax, Short toe, Somatic mutation, Strabismus, Supernumerary nipple, Syndactyly, Synophrys, Tapered finger, Thick hair, Trigonocephaly, Ulnar deviation of finger, Ulnar deviation of the wrist, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Vesicoureteral reflux, Wide intermamillary distance, Wide nasal bridge
U3	SNHG12	1.287810827	0.000136319	Unclassified		
U3	B3GALNT2	2.141697348	0.000138689	Enzyme: Transferase	BrainSpLMD|148789;Eurexp|euxassay_015892|submandibular gland primordium	OMIM|610194;HPO|148789|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Abnormality of the voice, Absent septum pellucidum, Agenesis of corpus callosum, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Autosomal recessive inheritance, Blindness, Cataract, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Chorioretinal dysplasia, Cognitive impairment, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, EEG abnormality, EMG abnormality, Elevated serum creatine phosphokinase, Gait disturbance, Glaucoma, Global developmental delay, Hydrocephalus, Hypertonia, Hypoplasia of penis, Hypoplasia of the pons, Hyporeflexia, Intellectual disability, Lissencephaly, Macrocephaly, Macrogyria, Metatarsus valgus, Microphthalmia, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Myopathy, Myopia, Neurological speech impairment, Optic atrophy, Optic nerve hypoplasia, Pachygyria, Polymicrogyria, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Seizures, Severe muscular hypotonia, Skeletal muscle atrophy, Specific learning disability, Strabismus, Type II lissencephaly, Visual impairment
U3	WASL	0.570147748	0.000146608	Cytoskeletal associated protein	BrainSpLMD|8976	OMIM|605056
U3	KLHL23	0.85979675	0.000155254	Cytoskeletal associated protein	BrainSpLMD|151230;Eurexp|euxassay_008410|embryo	
U3	MEX3D	0.717101483	0.000159324	RNA binding protein	BrainSpLMD|399664	OMIM|611009
U3	RRAGC	0.51755288	0.00015975	G protein	BrainSpLMD|64121	OMIM|608267
U3	SUZ12P1	0.485894366	0.000167293		BrainSpLMD|440423	
U3	RP5.1085F17.3	1.1343746	0.000184835			
U3	SERPINB9	1.428012173	0.000185717	Protease inhibitor	BrainSpLMD|5272	OMIM|601799
U3	TMEM184B	0.291781305	0.000200518	Unclassified	BrainSpLMD|25829	
U3	CEP162	2.619514726	0.0002033	Unclassified	BrainSpLMD|22832	OMIM|610201
U3	C12orf45	1.635553801	0.000205812	Unclassified		
U3	CD47	0.695595338	0.000223997	Unclassified	BrainSpLMD|961;Eurexp|euxassay_003895|dorsal root ganglion, floorplate, glossopharyngeal IX, left, lip, mantle layer, marginal layer, olfactory, right, thalamus, thymus primordium, trigeminal V, ventral grey horn;BrainSpMouseDev|16196	OMIM|601028
U3	HNRNPAB	2.135391795	0.000234875	Ribonucleoprotein	BrainSpLMD|3182;BrainSpMouseDev|15159	OMIM|602688
U3	RP11.452N17.1	1.003249249	0.000251282			
U3	DAP	2.479787834	0.000253729	Unclassified	BrainSpLMD|1611;Eurexp|euxassay_008199|clavicle, femur, mandible, maxilla, nucleus pulposus, orbito-sphenoid, pancreas, rib, turbinate	OMIM|600954
U3	RPS2P46	1.378216922	0.00027006			
U3	ZNF410	1.849867093	0.000271597	Transcription factor	BrainSpLMD|57862	
U3	NDUFA3	1.069761653	0.000273773	Enzyme: Oxidoreductase	BrainSpLMD|4696	OMIM|603832
U3	GXYLT1	2.076058957	0.000284532	Unclassified	BrainSpLMD|283464	OMIM|613321
U3	SCLT1	0.622459844	0.000299653	Adapter molecule	BrainSpLMD|132320	OMIM|611399
U3	GTF2IRD1	1.63212091	0.000350133	Transcription factor	BrainSpLMD|9569;Eurexp|euxassay_019650|axial skeleton, choroid plexus, lung, oesophagus, pituitary, submandibular gland primordium, vibrissa;BrainSpMouseDev|36358	OMIM|604318;HPO|9569|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the neck, Anxiety, Arthralgia, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad forehead, Cerebral ischemia, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Dental malocclusion, Depressivity, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Epicanthus, Everted lower lip vermilion, Failure to thrive in infancy, Gait imbalance, Genu valgum, Hallux valgus, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Inguinal hernia, Insomnia, Intellectual disability, Joint stiffness, Kyphosis, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Microcephaly, Microdontia, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Open bite, Overfriendliness, Pelvic kidney, Periorbital edema, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Proteinuria, Protruding ear, Pulmonic stenosis, Redundant skin, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Visual impairment, Wide mouth, Wide nasal bridge
U3	CNN3	0.79796491	0.000367548	Cytoskeletal associated protein	BrainSpLMD|1266;Eurexp|euxassay_009765|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|602374
U3	RP11.101E13.5	0.416797349	0.000368281			
U3	ANKHD1	1.154669558	0.000383678	Unclassified		OMIM|610500
U3	CWF19L2	2.544811543	0.000388094	Cell cycle control protein	BrainSpLMD|143884	
U3	CLSTN3	0.47285771	0.000394706	Calcium binding protein	BrainSpLMD|9746	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611324
U3	CSTF1	2.678712781	0.000398107	RNA binding protein	BrainSpLMD|1477	OMIM|600369
U3	C6orf48	1.200385475	0.000398449	Unclassified	BrainSpLMD|50854	OMIM|605447
U3	RP11.231C14.4	1.382869435	0.000429586			
U3	NR1D2	2.32801287	0.000455285	Nuclear receptor	BrainSpLMD|9975;BrainSpMouseDev|110666	OMIM|602304
U3	GNAS	1.238768834	0.000461034	G protein	BrainSpLMD|2778	SFARI||Autism, No category;OMIM|139320;COSMIC||pituitary adenoma, pancreatic intraductal papillary mucinous neoplasm, fibrous dysplasia, McCune-Albright syndrome, pseudohypoparathyroidism, type IA;HPO|2778|Abnormality of the musculature, Abnormality of the skin, Adult onset, Agitation, Anxiety, Autosomal dominant inheritance, Basal ganglia calcification, Blindness, Bone pain, Brachydactyly, Broad 1st metacarpal, Bruising susceptibility, Cardiomyopathy, Cataract, Choroid plexus calcification, Coarse facial features, Cognitive impairment, Constrictive median neuropathy, Craniofacial hyperostosis, Decreased circulating ACTH level, Delayed eruption of teeth, Depressed nasal bridge, Depressivity, Diabetes mellitus, Ectopic calcification, Ectopic ossification, Ectopic ossification in muscle tissue, Elevated circulating parathyroid hormone level, Facial asymmetry, Failure to thrive, Fatigue, Fibrous dysplasia of the bones, Full cheeks, Galactorrhea, Generalized hirsutism, Generalized hyperpigmentation, Growth delay, Growth hormone deficiency, Growth hormone excess, Hearing impairment, Hyperparathyroidism, Hyperphosphatemia, Hypertension, Hyperthyroidism, Hypocalcemia, Hypocalcemic tetany, Hypogonadism, Hypophosphatemia, Hypoplasia of dental enamel, Hypothyroidism, Increased bone mineral density, Increased circulating cortisol level, Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}, Infantile onset, Intellectual disability, Intestinal polyposis, Juvenile onset, Kyphosis, Large cafe-au-lait macules with irregular margins, Left ventricular hypertrophy, Limitation of joint mobility, Low urinary cyclic AMP response to PTH administration, Macronodular adrenal hyperplasia, Menometrorrhagia, Menstrual irregularities, Mental deterioration, Mood changes, Multiple cafe-au-lait spots, Muscle weakness, Neoplasm, Nephrolithiasis, Nystagmus, Obesity, Osteoma, Osteopenia, Osteoporosis, Pathologic fracture, Phenotypic variability, Pituitary adenoma, Pituitary growth hormone cell adenoma, Pituitary prolactin cell adenoma, Pituitary resistance to thyroid hormone, Polyostotic fibrous dysplasia, Polyphagia, Precocious puberty, Primary hypercorticolism, Progressive, Prolactin excess, Prolactinoma, Pseudohypoparathyroidism, Psychosis, Recurrent fractures, Reduced bone mineral density, Round face, Seizures, Short 4th metacarpal, Short 5th metacarpal, Short fifth metatarsal, Short finger, Short metacarpal, Short metatarsal, Short neck, Short stature, Short toe, Skeletal dysplasia, Skeletal muscle atrophy, Somatic mosaicism, Somatic mutation, Sporadic, Striae distensae, Subcutaneous nodule, Thickened calvaria, Thin skin, Truncal obesity, Variable expressivity
U3	IGFBP2	0.946756197	0.000482448	Secreted polypeptide	BrainSpLMD|3485;BrainSpMouseDev|15781	OMIM|146731
U3	MCL1	1.380878771	0.000496072	Chaperone	BrainSpLMD|4170	OMIM|159552
U3	ALDH6A1	2.051493226	0.000496816	Enzyme: Dehydrogenase	BrainSpLMD|4329;Eurexp|euxassay_018815|choroid invagination, naris, nasal septum, otic capsule, turbinate bones, ventricular layer	OMIM|603178;HPO|4329|Abnormal facial shape, Autosomal recessive inheritance, Bulbous nose, Cataract, Delayed myelination, Depressed nasal bridge, Downslanted palpebral fissures, Dystonia, Epicanthus, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Long philtrum, Metabolic acidosis, Microcephaly, Microphthalmia, Muscular hypotonia, Phenotypic variability, Short nose, Tented upper lip vermilion
U3	EIF5AL1	0.490512978	0.000503745	Translation regulatory protein		
U3	BRD7P2	0.474945927	0.000528467			
U3	NR2C1	2.683187418	0.000582541	Nuclear receptor	BrainSpLMD|7181;BrainSpMouseDev|21782	OMIM|601529
U3	MTFR1	0.384126773	0.00061697	Unclassified	BrainSpLMD|9650	
U3	DONSON	2.055507934	0.000657114	Unclassified	BrainSpLMD|29980	OMIM|611428;HPO|29980|Abnormality of the hand, Autosomal recessive inheritance, Forearm undergrowth, Intrauterine growth retardation, Microcephaly, Micromelia
U3	ZNF568	0.983960572	0.000686991	DNA binding protein	BrainSpLMD|374900	OMIM|617566
U3	RNF122	1.70636917	0.000687553	Ubiquitin proteasome system protein	BrainSpLMD|79845	
U3	SUMO1P3	1.238602545	0.000718195		BrainSpLMD|474338	
U3	CNPY2	1.571976778	0.000744105	Integral membrane protein	BrainSpLMD|10330	OMIM|605861
U3	SRGAP2C	1.322437422	0.000746697			OMIM|614704
U3	RPL35AP21	0.320665052	0.000750545			
U3	SNORD99	2.141531689	0.000780007			
U3	TCTN2	1.329380644	0.000807251	Unclassified	BrainSpLMD|79867;Eurexp|euxassay_000837|4th ventricle, choroid plexus, lateral recess, turbinate bones, ventricular layer	OMIM|613846;HPO|79867|Abdominal distention, Absent speech, Anophthalmia, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Broad forehead, Cataract, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Cleft palate, Cleft upper lip, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Dysmetria, Encephalocele, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Hyperechogenic kidneys, Hypermetropia, Hyperreflexia, Hypertelorism, Infantile onset, Intellectual disability, Lobar holoprosencephaly, Long face, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Pachygyria, Polydactyly, Polymicrogyria, Postaxial foot polydactyly, Postaxial hand polydactyly, Sclerocornea, Short neck, Short nose, Sloping forehead, Spasticity, Talipes, Talipes equinovarus
U3	HK2	2.299204294	0.000850982	Enzyme: Phosphotransferase	BrainSpLMD|3099	OMIM|601125
U3	THBS1	1.525198534	0.000864839	Extracellular matrix protein	BrainSpLMD|7057;Eurexp|euxassay_005711|axial skeleton, clavicle, cranium, footplate, handplate, left lung, lip, liver, mesenchyme, naris, rest of mesenchyme, right lung, sternum, turbinate bones	SFARI||Autism, No category;OMIM|188060
U3	TUB	1.483771475	0.000892121	Transcription regulatory protein	BrainSpLMD|7275	OMIM|601197;HPO|7275|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Astigmatism, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Myopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal dystrophy, Sensorineural hearing impairment, Visual impairment, Wide nasal bridge
U3	SFMBT1	2.429178223	0.000903521	Transcription regulatory protein	BrainSpLMD|51460	OMIM|607319
U3	LYSMD1	1.614903892	0.000926348	Unclassified	BrainSpLMD|388695	
U3	SLC16A1	0.416671993	0.000946642	Membrane transport protein	BrainSpLMD|6566;Eurexp|euxassay_003351|Meckel's cartilage, axial muscle, capsule, clavicle, epidermis, foregut-midgut junction, glomeruli, hindgut, incisor, left lung, lobe, loop, marginal layer, meninges, midgut, molar, nasal septum, olfactory, pancreas, rectum, right lung, submandibular gland primordium, testis, thymus primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|600682;HPO|6566|Autosomal dominant inheritance, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise-induced muscle cramps, Exercise-induced muscle fatigue, Exercise-induced muscle stiffness, Feeding difficulties, Global developmental delay, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability, Ketoacidosis, Ketotic hypoglycemia, Pancreatic islet-cell hyperplasia
U3	RPL9P7	0.463520974	0.001001824			
U3	CPSF4	1.403923161	0.001028283	RNA binding protein	BrainSpLMD|10898;Eurexp|euxassay_002760|calyces, dorsal root ganglion, olfactory, submandibular gland primordium, ventricular layer, vibrissa	OMIM|603052
U3	ZCCHC3	1.959622825	0.001035558	Unclassified	BrainSpLMD|85364;Eurexp|euxassay_012888|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, humerus, mantle layer, orbito-sphenoid, pelvic girdle, rib, scapula, temporal bone, vault of skull, ventral grey horn	
U3	VEGFA	1.348580879	0.001098857	Growth factor	BrainSpLMD|7422;BrainSpMouseDev|22096	OMIM|192240
U3	ATP11B	0.304705967	0.001102322	ATPase	BrainSpLMD|23200	OMIM|605869
U3	GRHPR	0.779624761	0.001140948	Enzyme: Reductase	BrainSpLMD|9380;Eurexp|euxassay_000601|adrenal gland	OMIM|604296;HPO|9380|Aminoaciduria, Autosomal recessive inheritance, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Variable expressivity
U3	PPDPF	0.50210711	0.001243712	Unclassified	BrainSpLMD|79144	
U3	GAPVD1	1.344846408	0.001297444	Unclassified	BrainSpLMD|26130;Eurexp|euxassay_000318|central nervous system, dorsal root ganglion, facial VII, glossopharyngeal IX, inner ear, metanephros, nervous system, nucleus pulposus, spinal cord, telencephalon, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611714
U3	TFAP4	1.177024181	0.001308354	Transcription factor	BrainSpLMD|7023;BrainSpMouseDev|57632	OMIM|600743
U3	AGAP10	1.305419274	0.001315778			
U3	CBFB	1.844768871	0.001468919	Transcription factor	BrainSpLMD|865	OMIM|121360;COSMIC||AML
U3	MBIP	1.341477637	0.001469812	Unclassified	BrainSpLMD|51562;Eurexp|euxassay_005376|lung	OMIM|609431
U3	MESDC2	1.434861665	0.001567584			
U3	ERH	0.379758341	0.001699153	Transcription regulatory protein	BrainSpLMD|2079;Eurexp|euxassay_018034|orbito-sphenoid, ventricular layer	OMIM|601191
U3	PCBP1.AS1	1.924334286	0.001889291			
U3	CCZ1B	1.814532476	0.002001315	Unclassified		
U3	PDE5A	2.04652081	0.002053412	Enzyme: Phosphodiesterase	BrainSpLMD|8654;BrainSpMouseDev|88926	OMIM|603310
U3	CDON	0.682850393	0.002276516	Cell surface receptor	BrainSpLMD|50937;BrainSpMouseDev|37081	OMIM|608707;HPO|50937|Agenesis of corpus callosum, Autosomal dominant inheritance, Cleft lip, Cleft palate, Delayed puberty, Ectopic posterior pituitary, Failure to thrive, Global developmental delay, Holoprosencephaly, Hypoglycemia, Hypoplasia of penis, Hypotelorism, Hypothyroidism, Microcephaly, Polysplenia, Proptosis, Short stature, Sporadic, Synophrys, Thick eyebrow, Variable expressivity
U3	MPC1	0.842668604	0.002291512	Unclassified	BrainSpLMD|51660;Eurexp|euxassay_014791|adrenal gland, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V	OMIM|614738;HPO|51660|Autosomal recessive inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hypoglycemia, Increased serum lactate, Increased serum pyruvate, Lactic acidosis, Organic aciduria, Variable expressivity
U3	WWTR1	2.23726626	0.002591368	Transcription regulatory protein	BrainSpLMD|25937;Eurexp|euxassay_000592|limb, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|61234	OMIM|607392;COSMIC||epithelioid haemangioendothelioma
U3	RBMXP2	0.776796232	0.002726073			
U3	LRRC37A2	0.558844369	0.003566646	Integral membrane protein		OMIM|616556
U3	PNMAL1	0.957224085	0.004387303			
U3	SVIL	1.670554616	0.004758657	Cytoskeletal associated protein	BrainSpLMD|6840;Eurexp|euxassay_011675|epidermis, exoccipital bone, meninges, midgut, pharyngo-tympanic tube, skeletal muscle, stomach, vibrissa	OMIM|604126
U3	RPL30P4	0.308499767	0.005249401			
U3	SRGAP2	0.36908277	0.005484179	GTPase activating protein	Eurexp|euxassay_013988|dorsal grey horn, mantle layer, ventricle, ventricular layer	OMIM|606524
U3	TAF13	0.750763118	0.005616159	Transcription factor	BrainSpLMD|6884;Eurexp|euxassay_001598|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, submandibular gland primordium, trigeminal V, vagus X;BrainSpMouseDev|63900	OMIM|600774;HPO|6884|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Delayed puberty, Delayed skeletal maturation, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Small for gestational age, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vesicoureteral reflux
U3	RP11.50D9.1	1.61698621	0.005712656			
U3	NR2F1.AS1	0.699480376	0.005741488			
U3	RP11.499P20.2	2.058155578	0.005939664			
U3	CD99	1.069652565	0.00661114	Unclassified		OMIM|450000
U3	EPB41L3	1.410298621	0.006748396	Structural protein	BrainSpLMD|23136	OMIM|605331
U3	MDM4	0.647741936	0.008571261	Ubiquitin proteasome system protein	BrainSpLMD|4194	OMIM|602704;COSMIC||glioblastoma, bladder, retinoblastoma
Choroid	TTR	9.683556972	0	Transport/cargo protein	BrainSpLMD|7276;Eurexp|euxassay_010654|choroid plexus, liver, lobe, midgut, pancreas, stomach;BrainSpMouseDev|21896	OMIM|176300;HPO|7276|Adult onset, Amyloid deposition in the vitreous humor, Amyloidosis, Ataxia, Autosomal dominant inheritance, Cardiomegaly, Cardiomyopathy, Constipation, Constrictive median neuropathy, Dementia, Diarrhea, Digital flexor tenosynovitis, Dysarthria, Dysautonomia, Headache, Hearing impairment, Hemiparesis, Hyporeflexia, Impotence, Increased CSF protein, Muscle weakness, Nystagmus, Orthostatic hypotension due to autonomic dysfunction, Paraplegia, Peripheral axonal neuropathy, Peripheral neuropathy, Phenotypic variability, Polyneuropathy, Progressive, Seizures, Spasticity, Stroke-like episode, Tremor, Urinary incontinence, Visual impairment, Vitamin B6 deficiency
Choroid	FOLR1	6.919042861	0	Cell surface receptor	BrainSpLMD|2348;Eurexp|euxassay_000743|4th ventricle, calyces, choroid plexus, foregut-midgut junction, hindgut, midgut	OMIM|136430;HPO|2348|Autosomal recessive inheritance, Developmental regression, Intellectual disability, Neurodegeneration, Seizures
Choroid	HTR2C	6.306207205	0	G protein coupled receptor	BrainSpLMD|3358;BrainSpMouseDev|15335	OMIM|312861
Choroid	TPPP3	6.104753672	0	Unclassified	BrainSpLMD|51673;Eurexp|euxassay_009872|cervical, cervico-thoracic, diaphragm, dorsal root ganglion, extrinsic ocular muscle, facial VII, fibula, glossopharyngeal IX, mantle layer, mesenchyme, neural retina, olfactory, rest of mesenchyme, skeletal muscle, thoracic, tibia, trigeminal V, ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|616957
Choroid	ZMYND10	5.924793052	0	Unclassified	BrainSpLMD|51364	OMIM|607070;HPO|51364|Autosomal recessive inheritance, Bronchiectasis, Chronic bronchitis, Ciliary dyskinesia, Infertility, Nasal polyposis, Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Reduced sperm motility, Respiratory insufficiency due to defective ciliary clearance, Rhinitis, Sinusitis, Situs inversus totalis
Choroid	ARMC3	5.633157507	0	Unclassified	BrainSpLMD|219681	OMIM|611226
Choroid	CLIC6	5.409749187	0	Voltage gated channel	BrainSpLMD|54102	OMIM|615321
Choroid	FANK1	5.348860147	0	Unclassified	BrainSpLMD|92565	OMIM|611640
Choroid	DNAH12	5.313490858	0	Motor protein	BrainSpLMD|201625	OMIM|603340
Choroid	TTC18	5.287238828	0			
Choroid	PIFO	5.275456169	0	Unclassified	BrainSpLMD|128344	OMIM|614234
Choroid	DAW1	5.24921832	0	Unclassified	BrainSpLMD|164781	
Choroid	GALNT5	5.221650694	0	Enzyme: Galactosyltransferase	BrainSpLMD|11227;Eurexp|euxassay_013568|mandible, maxilla, rib	OMIM|615129
Choroid	WDR63	5.219001467	0	Unclassified	BrainSpLMD|126820;Eurexp|euxassay_011282|choroid plexus	
Choroid	C11orf88	4.993976667	0	Unclassified	BrainSpLMD|399949	
Choroid	TRPM3	4.926934644	0	Ion channel	BrainSpLMD|80036	OMIM|608961
Choroid	SULF1	4.820404902	0	Enzyme: Sulphatase	BrainSpLMD|23213	OMIM|610012
Choroid	RSPH1	4.791777352	0	DNA binding protein	BrainSpLMD|89765;Eurexp|euxassay_005876|4th ventricle, choroid plexus, femur, fibula, humerus, mandible, rib, scapula, tibia, ventricular layer	OMIM|609314;HPO|89765|Autosomal recessive inheritance, Bronchiectasis, Ciliary dyskinesia, Infertility, Recurrent respiratory infections, Recurrent sinusitis, Rhinitis, Sinusitis
Choroid	FAM183A	4.75255216	0	Unclassified		
Choroid	DRC1	4.672257736	0	Unclassified	BrainSpLMD|92749;Eurexp|euxassay_016085|choroid plexus, floor plate, floorplate	OMIM|615288;HPO|92749|Atelectasis, Autosomal recessive inheritance, Bronchiectasis, Chronic sinusitis, Ciliary dyskinesia, Recurrent otitis media, Recurrent respiratory infections, Sinusitis
Choroid	DMKN	4.570886231	0	Cytokine	BrainSpLMD|93099	OMIM|617211
Choroid	WDR96	4.490153564	0			
Choroid	RP6.24A23.7	4.403285708	0			
Choroid	PCP4	4.201474887	0	Unclassified	BrainSpLMD|5121;Eurexp|euxassay_006129|calyces, cervical, cervico-thoracic, dorsal root ganglion, femur, fibula, hypothalamus, mandible, mantle layer, maxilla, midgut, naris, oesophagus, olfactory, pelvic girdle, rectum, rib, stomach, thoracic, tibia, trigeminal V, vagus X, ventricular layer;BrainSpMouseDev|18312	OMIM|601629
Choroid	OTX2	4.17847367	0	Transcription factor	BrainSpLMD|5015;Eurexp|euxassay_003086|4th ventricle, choroid plexus, cochlea, external, lateral recess, mantle layer, marginal layer, naris, neural retina, olfactory, ventricular layer;BrainSpMouseDev|18191	OMIM|600037;HPO|5015|Abnormal prolactin level, Abnormality of secondary sexual hair, Abnormality of the cranial nerves, Absent nares, Agenesis of corpus callosum, Amenorrhea, Anterior pituitary agenesis, Anterior pituitary hypoplasia, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the breasts, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the eyebrow, Autosomal dominant inheritance, Cataract, Cleft palate, Coloboma, Cryptorchidism, Cyclopia, Decreased circulating ACTH level, Decreased testicular size, Depressed nasal ridge, Ectopic posterior pituitary, Fatigue, Generalized hypotonia, Global developmental delay, Hemiplegia/hemiparesis, Holoprosencephaly, Hypoglycemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypotension, Infertility, Joint laxity, Low-set, posteriorly rotated ears, Mandibular aplasia, Microcornea, Microglossia, Microphthalmia, Narrow internal auditory canal, Narrow mouth, Nystagmus, Osteopenia, Pituitary hypothyroidism, Polyhydramnios, Respiratory distress, Retinal dystrophy, Seizures, Septo-optic dysplasia, Short stature, Situs inversus totalis, Strabismus, Synotia, Visual impairment
Choroid	CA2	4.127316149	0	Enzyme: Carbonic anhydrase	BrainSpLMD|760;Eurexp|euxassay_018564|Meckel's cartilage, bladder, choroid plexus, cochlear duct, fundus region, incisor, lateral recess, lobe, lumen, lung, molar, rectum;BrainSpMouseDev|12134	OMIM|611492;HPO|760|Abnormality of dental morphology, Abnormality of epiphysis morphology, Abnormality of the renal tubule, Anemia, Aseptic necrosis, Autosomal recessive inheritance, Basal ganglia calcification, Bone pain, Carious teeth, Cerebral calcification, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, Distal renal tubular acidosis, Elevated serum acid phosphatase, Extramedullary hematopoiesis, Failure to thrive, Genu valgum, Global developmental delay, Hepatomegaly, Hepatosplenomegaly, Intellectual disability, Mandibular prognathia, Optic nerve compression, Osteopetrosis, Periodic hypokalemic paresis, Peripheral neuropathy, Recurrent fractures, Reduced bone mineral density, Short stature, Splenomegaly, Thrombocytopenia, Visual loss
Choroid	SLC16A10	3.713945181	0	Membrane transport protein	BrainSpLMD|117247;Eurexp|euxassay_010493|choroid plexus, lobe, vibrissa	OMIM|607550
Choroid	SLC39A12	5.247083561	1.11E-16	Membrane transport protein	BrainSpLMD|221074;Eurexp|euxassay_007024|choroid invagination, choroid plexus, mesenchyme, roof plate, ventricular layer	OMIM|608734
Choroid	F5	5.705361521	4.44E-16	Coagulation factor	BrainSpLMD|2153;Eurexp|euxassay_008094|left, right	OMIM|612309;HPO|2153|Abdominal pain, Adult onset, Ascites, Autosomal dominant inheritance, Autosomal recessive inheritance, Bruising susceptibility, Cirrhosis, Deep venous thrombosis, Elevated hepatic transaminases, Epistaxis, Esophageal varix, Fever, Hepatomegaly, Hypercoagulability, Menorrhagia, Portal hypertension, Preeclampsia, Prolonged bleeding time, Prolonged partial thromboplastin time, Prolonged prothrombin time, Prolonged whole-blood clotting time, Reduced factor V activity, Resistance to activated protein C, Splenomegaly
Choroid	PARM1	4.030120233	4.44E-16	Unclassified	BrainSpLMD|25849;Eurexp|euxassay_008620|anterior, aorta, bladder, calyces, diaphragm, epidermis, external, facial VII, footplate, glossopharyngeal IX, handplate, incisor, intestitial tissue, left lung, mantle layer, meninges, mesenchyme, midgut, molar, naris, nasal cavity, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, posterior, rectum, rest of mesenchyme, right lung, skeletal muscle, stomach, trigeminal V, ureter, vagus X, valve, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|87243	OMIM|617688
Choroid	RPL41P1	2.032030517	7.77E-16			
Choroid	AKAP14	4.760197167	1.11E-15	Anchor protein	BrainSpLMD|158798	OMIM|300462
Choroid	ZBBX	3.608443246	1.11E-15	Unclassified	BrainSpLMD|79740	
Choroid	TCTEX1D1	5.317847909	2.22E-15	Structural protein	BrainSpLMD|200132	
Choroid	SPAG6	5.740613065	2.33E-15	Structural protein;Motor protein	BrainSpLMD|9576	OMIM|605730
Choroid	EFCAB1	3.888163648	6.99E-15	Calcium binding protein	BrainSpLMD|79645;Eurexp|euxassay_008521|4th ventricle, choroid plexus, ventricular layer	
Choroid	C12orf55	3.257540505	7.44E-15			
Choroid	WDR78	3.989984011	9.55E-15	Unclassified	BrainSpLMD|79819;Eurexp|euxassay_014122|choroid invagination, choroid plexus, floor plate, floorplate, olfactory, roof plate	
Choroid	SPA17	4.304158912	1.05E-14	Unclassified	BrainSpLMD|53340;Eurexp|euxassay_006951|choroid invagination, choroid plexus, left lung, lung, right lung, roof plate, ventricle, vertebral axis muscle system	OMIM|608621
Choroid	PSENEN	3.319458158	1.10E-14	Integral membrane protein	BrainSpMouseDev|42183	OMIM|607632;HPO|55851|Acne inversa, Autosomal dominant inheritance, Chronic furunculosis, Perifolliculitis, Recurrent cutaneous abscess formation
Choroid	RMST	2.106716207	1.83E-14			OMIM|607045
Choroid	MSX1	2.153374289	2.01E-14	Transcription regulatory protein	BrainSpLMD|4487;BrainSpMouseDev|17468	OMIM|142983;HPO|4487|Agenesis of permanent teeth, Autosomal dominant inheritance, Cleft palate, Cleft upper lip, Concave nail, Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Fine hair, Fragile nails, Hypodontia, Hypoplasia of the maxilla, Hypoplastic fingernail, Hypoplastic toenails, Microdontia, Microdontia of primary teeth, Micrognathia, Nail pits, Oligodontia, Ridged fingernail, Ridged nail, Small nail, Sparse hair, Thin toenail
Choroid	SPAG17	5.244339249	2.86E-14	Unclassified	BrainSpLMD|200162	OMIM|616554
Choroid	RBM47	3.540589918	6.22E-14	RNA binding protein	BrainSpLMD|54502;Eurexp|euxassay_004545|Meckel's cartilage, adrenal gland, bladder, calyces, choroid plexus, foregut-midgut junction, hindgut, lateral recess, loop, lung, midgut, olfactory, pancreas, pelvis, rectum, respiratory, stomach, submandibular gland primordium, thymus primordium, urethra	
Choroid	IGFBP7	3.168706666	7.17E-14	Adhesion molecule	BrainSpLMD|3490;BrainSpMouseDev|29552	OMIM|602867;HPO|3490|Autosomal recessive inheritance, Exudative retinal detachment, Pulmonic stenosis, Retinal arterial macroaneurysms
Choroid	ZNF474	5.788954671	1.02E-13	DNA binding protein	BrainSpLMD|133923;Eurexp|euxassay_014405|axial skeleton	
Choroid	LRRIQ1	3.808531399	1.22E-13	Unclassified	BrainSpLMD|84125	
Choroid	SLC17A8	2.257279531	1.55E-13	Membrane transport protein	BrainSpLMD|246213;Eurexp|euxassay_019722|mantle layer, ventricular layer;BrainSpMouseDev|84940	OMIM|607557;HPO|246213|Autosomal dominant inheritance, Sensorineural hearing impairment, Variable expressivity
Choroid	C9orf24	3.829321767	1.85E-13	Unclassified	BrainSpLMD|84688;Eurexp|euxassay_014364|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, metacarpus, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, tarsus, tibia, turbinate bones, vault of skull	
Choroid	SLC38A11	3.56056838	2.80E-13	Transport/cargo protein	BrainSpLMD|151258	OMIM|616526
Choroid	CALML4	3.771961255	2.86E-13	Calcium binding protein	BrainSpLMD|91860;Eurexp|euxassay_002512|choroid fissure, choroid plexus, lateral recess	
Choroid	MITF	2.087064207	3.08E-13	Transcription factor	BrainSpLMD|4286;Eurexp|euxassay_019482|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, olfactory, spinal cord, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|17111	OMIM|156845;COSMIC||melanoma, Waardenburg syndrome type 2, Tietz syndrome;HPO|4286|Abnormality of the hair, Abnormality of the lymphatic system, Albinism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Blue irides, Coloboma, Congenital sensorineural hearing impairment, Dry skin, Freckling, Frontal bossing, Generalized hypopigmentation, Generalized hypotonia, Giant melanosomes in melanocytes, Heterochromia iridis, Heterogeneous, Hypermetropia, Hypopigmentation of the fundus, Hypopigmentation of the skin, Hypopigmented skin patches, Hypoplasia of the fovea, Hypoplastic iris stroma, Macrocephaly, Melanoma, Micrognathia, Multiple lentigines, Nevus, Nystagmus, Ocular albinism, Optic nerve dysplasia, Osteopetrosis, Partial albinism, Photophobia, Posteriorly rotated ears, Preauricular pit, Premature graying of hair, Reduced visual acuity, Sensorineural hearing impairment, Shallow orbits, Strabismus, Synophrys, Underdeveloped nasal alae, Variable expressivity, Vestibular hypofunction, Visual impairment, White eyebrow, White eyelashes, White forelock, Wide nasal bridge, X-linked inheritance
Choroid	SLC7A8	3.835654345	3.55E-13	Membrane transport protein	BrainSpLMD|23428;Eurexp|euxassay_008218|renal/urinary system	OMIM|604235
Choroid	LRRC9	3.186719177	3.60E-13	Unclassified	BrainSpLMD|341883	
Choroid	PPP1R42	3.221399434	3.68E-13	Unclassified	BrainSpLMD|286187;Eurexp|euxassay_003094|choroid plexus, lateral recess	OMIM|617720
Choroid	EFHC2	3.066891663	3.79E-13	Unclassified	BrainSpLMD|80258	OMIM|300817
Choroid	CETN2	3.40145904	4.10E-13	Calcium binding protein	BrainSpLMD|1069;Eurexp|euxassay_015485|choroid plexus, lateral recess	OMIM|300006
Choroid	AGBL4.IT1	0.413245623	5.87E-13			
Choroid	DNAAF1	4.01402517	5.88E-13	Unclassified	BrainSpLMD|123872	OMIM|613190;HPO|123872|Absent inner dynein arms, Absent outer dynein arms, Autosomal recessive inheritance, Bronchiectasis, Ciliary dyskinesia, Infertility, Recurrent bronchitis, Recurrent otitis media, Recurrent respiratory infections, Sinusitis, Situs inversus totalis
Choroid	CIB1	3.43406769	7.24E-13	Calcium binding protein	BrainSpLMD|10519	OMIM|602293
Choroid	WIF1	3.194961249	7.78E-13	Ligand	BrainSpLMD|11197;BrainSpMouseDev|23868	OMIM|605186;COSMIC||pleomorphic salivary gland adenoma
Choroid	CCDC11	4.726168208	8.87E-13			
Choroid	PCDP1	4.033940774	1.12E-12			
Choroid	VAT1L	3.67353709	1.53E-12	Unclassified	BrainSpLMD|57687;Eurexp|euxassay_004685|adenohypophysis, body-wall mesenchyme, cervical, cervico-thoracic, choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, lateral recess, mantle layer, marginal layer, mesenchyme, thoracic, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|92920	
Choroid	ADGB	5.40338457	1.69E-12	Unclassified		OMIM|614630
Choroid	C1orf194	3.421830227	1.77E-12	Unclassified		
Choroid	AK7	4.445787072	2.09E-12	Enzyme: Phosphotransferase	BrainSpLMD|122481	OMIM|615364
Choroid	SNORA35	2.510725021	2.72E-12			
Choroid	MDH1B	5.087105428	3.41E-12	Enzyme: Dehydrogenase	BrainSpLMD|130752	
Choroid	CTD.2031P19.4	1.524311039	3.76E-12			
Choroid	C9orf116	3.95309608	4.22E-12	Unclassified	BrainSpLMD|138162	OMIM|614502
Choroid	LRRC6	3.830805132	4.86E-12	Unclassified	BrainSpLMD|23639	OMIM|614930;HPO|23639|Absent inner and outer dynein arms, Autosomal recessive inheritance, Bronchiectasis, Chronic bronchitis, Ciliary dyskinesia, Immotile cilia, Nasal polyposis, Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Reduced sperm motility, Respiratory insufficiency due to defective ciliary clearance, Rhinitis, Situs inversus totalis
Choroid	TTC40	4.524275533	5.02E-12			
Choroid	KIF9	2.803566363	5.40E-12	Unclassified	BrainSpLMD|64147;Eurexp|euxassay_011006|choroid plexus	OMIM|607910
Choroid	PRDX3	2.183160825	6.11E-12	Enzyme: Peroxidase	BrainSpLMD|10935;Eurexp|euxassay_006583|adrenal gland, liver, ovary, thymus primordium, thyroid	OMIM|604769
Choroid	VWA3A	3.83575681	7.21E-12	Unclassified	BrainSpLMD|146177;Eurexp|euxassay_008072|4th ventricle, choroid plexus	
Choroid	DNAH5	1.245823957	7.72E-12	Motor protein	BrainSpLMD|1767	OMIM|603335;HPO|1767|Autosomal recessive inheritance, Ciliary dyskinesia, Recurrent respiratory infections, Situs inversus totalis
Choroid	RARRES2	3.450062247	8.80E-12	Cell surface receptor	BrainSpLMD|5919	OMIM|601973
Choroid	WDR49	3.287412833	1.13E-11	Unclassified	BrainSpLMD|151790	
Choroid	CDC20B	7.528127885	1.15E-11	Unclassified	BrainSpLMD|166979	
Choroid	DNAH9	3.505521701	1.17E-11	Motor protein	BrainSpLMD|1770;Eurexp|euxassay_010961|choroid invagination, choroid plexus, floor plate, floorplate, roof plate	OMIM|603330
Choroid	CCDC173	3.492356143	1.29E-11	Unclassified		
Choroid	CGNL1	3.738309694	1.93E-11	Unclassified	BrainSpLMD|84952;Eurexp|euxassay_012420|molar, sublingual gland primordium	SFARI||Autism, 3 - Suggestive evidence;OMIM|607856
Choroid	C7orf63	2.584658707	2.04E-11			
Choroid	C6orf118	2.274913358	2.22E-11	Unclassified	BrainSpLMD|168090	
Choroid	CLU	2.109389666	2.27E-11	Complement protein	BrainSpLMD|1191;BrainSpMouseDev|12543	OMIM|185430
Choroid	NPHP1	3.13174719	2.96E-11	Cytoskeletal associated protein	BrainSpLMD|4867	OMIM|607100;HPO|4867|Abnormal electroretinogram, Abnormality of retinal pigmentation, Anemia, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Cerebellar vermis hypoplasia, Cognitive impairment, Delayed gross motor development, Elongated superior cerebellar peduncle, Feeding difficulties, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, Heterogeneous, Hypertension, Hypogonadism, Hypometric saccades, Hypoplasia of penis, Hypoplasia of the ovary, Hyposthenuria, Intellectual disability, Long face, Low-set, posteriorly rotated ears, Molar tooth sign on MRI, Multicystic kidney dysplasia, Muscular hypotonia, Nephronophthisis, Nephropathy, Nystagmus, Obesity, Oculomotor apraxia, Pigmentary retinopathy, Polydipsia, Polyuria, Postaxial hand polydactyly, Premature ovarian insufficiency, Progressive visual loss, Renal corticomedullary cysts, Renal insufficiency, Retinal dystrophy, Short stature, Stage 5 chronic kidney disease, Tapetoretinal degeneration, Thickened superior cerebellar peduncle, Tubular atrophy, Tubular basement membrane disintegration, Tubulointerstitial fibrosis, Visual impairment
Choroid	WDR16	4.978894421	3.54E-11			
Choroid	EFHC1	3.038395708	3.68E-11	Unclassified	BrainSpLMD|114327;Eurexp|euxassay_011763|choroid invagination, choroid plexus, epithelium, olfactory, roof plate	OMIM|608815;HPO|114327|Abnormality of eye movement, Abnormality of the mouth, EEG with polyspike wave complexes, Generalized tonic-clonic seizures
Choroid	CCDC40	3.448867969	4.08E-11	Unclassified	BrainSpLMD|55036;Eurexp|euxassay_005957|choroid invagination, choroid plexus, mantle layer, olfactory, roof plate, vestibulocochlear VIII	OMIM|613799;HPO|55036|Abnormal axonemal organization of respiratory motile cilia, Autosomal recessive inheritance, Bronchiectasis, Ciliary dyskinesia, Infertility, Recurrent otitis media, Recurrent respiratory infections, Sinusitis
Choroid	MORN5	4.326657395	4.35E-11	Unclassified	BrainSpLMD|254956	
Choroid	FAM46C	2.559463422	5.40E-11	Unclassified	BrainSpLMD|54855;Eurexp|euxassay_013491|lens, lobe, pancreas	OMIM|613952;COSMIC||MM
Choroid	CLDN1	5.381084021	6.00E-11	Cell junction protein	BrainSpLMD|9076;Eurexp|euxassay_004814|calyces, cervical region, choroid plexus, epidermis, incisor, lateral recess, lumbar region, oesophagus, sacral region, skeletal muscle, submandibular gland primordium, thoracic region, tongue, vibrissa	OMIM|603718;HPO|9076|Abnormality of blood and blood-forming tissues, Alopecia, Autosomal recessive inheritance, Cholangitis, Dry skin, Epidermal acanthosis, Hepatomegaly, Hypodontia, Hypoplasia of dental enamel, Hypotrichosis, Hypotrichosis of the scalp, Ichthyosis, Jaundice, Oligodontia, Orthokeratosis, Parakeratosis, Scarring alopecia of scalp, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Splenomegaly
Choroid	HYDIN	3.076160735	6.22E-11	Unclassified	BrainSpLMD|54768;Eurexp|euxassay_013571|choroid invagination, choroid plexus, roof plate	SFARI||Autism, 4 - Minimal evidence;OMIM|610812;HPO|54768|Autosomal recessive inheritance, Bronchiectasis, Ciliary dyskinesia, Infantile onset, Nasal polyposis, Recurrent bronchitis, Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Respiratory insufficiency due to defective ciliary clearance, Rhinitis
Choroid	TEKT1	3.828112059	6.23E-11	Structural protein	BrainSpLMD|83659	OMIM|609002
Choroid	OTX2.AS1	4.366479955	6.37E-11			
Choroid	RGS22	3.18883448	7.60E-11	GTPase activating protein	BrainSpLMD|26166	OMIM|615650
Choroid	LGI1	3.323342635	8.88E-11	Unclassified	BrainSpLMD|9211;Eurexp|euxassay_008470|brain, diaphragm, neural retina, olfactory, skeletal muscle, spinal cord, vertebral axis muscle system	OMIM|604619;HPO|9211|Auditory auras, Autosomal dominant inheritance, Focal seizures with impairment of consciousness or awareness, Focal seizures without impairment of consciousness or awareness, Generalized tonic-clonic seizures with focal onset, Incomplete penetrance
Choroid	PHACTR2	1.753140615	9.29E-11	Enzyme regulator	BrainSpLMD|9749;Eurexp|euxassay_007706|alimentary system, cardiovascular system, cavities and their linings, choroid invagination, choroid plexus, gland, integumental system, limb, mesenchyme, renal/urinary system, reproductive system, respiratory system, roof plate, sensory organ, tail, ventricular layer, vertebral axis muscle system	OMIM|608724
Choroid	C5orf49	4.376949134	1.06E-10	Unclassified	Eurexp|euxassay_007556|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	
Choroid	KCNJ13	3.630947126	1.09E-10	Inward rectifier channel	BrainSpLMD|3769	OMIM|603208;HPO|3769|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Aplasia/Hypoplasia of the cerebellar vermis, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Encephalocele, Hemiplegia/hemiparesis, Keratoconus, Muscular hypotonia, Nyctalopia, Nystagmus, Optic disc pallor, Photophobia, Reduced visual acuity, Seizures, Severe visual impairment, Visual impairment, Vitreoretinal degeneration
Choroid	FAM81B	4.75155752	1.09E-10	Unclassified	BrainSpLMD|153643	
Choroid	PLTP	3.593187497	1.23E-10	Transport/cargo protein	BrainSpLMD|5360	OMIM|172425
Choroid	CXorf22	3.132101935	1.29E-10			
Choroid	AGTRAP	3.173849844	1.61E-10	Unclassified	BrainSpLMD|57085	OMIM|608729
Choroid	MNS1	2.762659419	1.80E-10	Structural protein	BrainSpLMD|55329	OMIM|610766
Choroid	CCDC39	3.235486944	1.88E-10	Unclassified		OMIM|613798;HPO|339829|Abnormal axonemal organization of respiratory motile cilia, Abnormal ciliary motility, Absent inner dynein arms, Autosomal recessive inheritance, Bronchiectasis, Chronic sinusitis, Ciliary dyskinesia, Infertility, Otitis media, Recurrent respiratory infections
Choroid	CCDC34	1.594802667	1.93E-10	Unclassified	BrainSpLMD|91057	OMIM|612324
Choroid	SPATA18	4.42713233	2.39E-10	Unclassified	BrainSpLMD|132671	OMIM|612814
Choroid	SLC4A5	3.906502408	2.60E-10	Integral membrane protein	BrainSpLMD|57835;Eurexp|euxassay_013237|choroid plexus	OMIM|606757
Choroid	C2orf73	4.334222926	3.00E-10	Unclassified	BrainSpLMD|129852	
Choroid	SOSTDC1	4.416439404	3.18E-10	Unclassified	BrainSpLMD|25928;Eurexp|euxassay_001643|bladder, calyces, cervico-thoracic, choroid plexus, dorsal root ganglion, epidermis, facial VII, glossopharyngeal IX, head mesenchyme, incisor, lateral recess, lip, mesenchyme, nucleus pulposus, oesophagus, olfactory, oral epithelium, pelvis, penis, pharyngo-tympanic tube, submandibular gland primordium, testis, thoracic, tongue, trachea, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|41885	OMIM|609675
Choroid	PPIB	2.276707274	4.57E-10	Chaperone	BrainSpLMD|5479;Eurexp|euxassay_000530|basioccipital bone, basisphenoid bone, cranium, nucleus pulposus, orbito-sphenoid, otic capsule, rib, sphenoid	OMIM|123841;HPO|5479|Autosomal recessive inheritance, Blue sclerae, Bowing of limbs due to multiple fractures, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Kyphosis, Multiple prenatal fractures, Pectus carinatum, Pectus excavatum, Recurrent fractures, Scoliosis, Wormian bones
Choroid	CCDC113	3.474310135	4.61E-10	Unclassified	BrainSpLMD|29070;Eurexp|euxassay_006340|choroid invagination, choroid plexus	OMIM|616070
Choroid	C4orf47	3.630276583	4.91E-10			
Choroid	NME5	3.336132684	6.32E-10	Enzyme: Phosphotransferase	BrainSpLMD|8382	OMIM|603575
Choroid	ZIC5	0.696524546	9.23E-10	DNA binding protein	BrainSpLMD|85416;BrainSpMouseDev|41618	
Choroid	CASC1	3.045071358	9.36E-10	Unclassified	BrainSpLMD|55259	OMIM|616906
Choroid	C2orf40	3.718969086	1.03E-09	Unclassified	BrainSpLMD|84417;Eurexp|euxassay_005368|4th ventricle, choroid plexus, clavicle, cranium, humerus, rib, scapula, trachea, ventricular layer	OMIM|611752
Choroid	C20orf26	3.871353632	1.17E-09			
Choroid	ROPN1L	4.113994374	1.19E-09	Unclassified	BrainSpLMD|83853	OMIM|611756
Choroid	CCDC146	2.461019135	1.66E-09	Unclassified	BrainSpLMD|57639	
Choroid	PLBD1	2.877258585	1.66E-09	Unclassified	BrainSpLMD|79887;Eurexp|euxassay_001850|epidermis, lateral recess, vibrissa	
Choroid	GSTP1	1.927823451	1.74E-09	Enzyme: Glutathione transferase	BrainSpLMD|2950;Eurexp|euxassay_006221|lobe	OMIM|134660
Choroid	ZIC2	2.039705267	2.05E-09	Transcription regulatory protein	BrainSpLMD|7546;BrainSpMouseDev|22529	OMIM|603073;HPO|7546|Abnormal facial shape, Autosomal dominant inheritance, Global developmental delay, Holoprosencephaly, Hydrocephalus, Intellectual disability, Microcephaly, Synophrys, Trigonocephaly
Choroid	SGMS2	1.701142709	2.20E-09	Enzyme: Ligase	BrainSpLMD|166929;Eurexp|euxassay_002377|Meckel's cartilage, basioccipital bone, basisphenoid bone, cervical region, clavicle, cranium, femur, frontal bone primordium, humerus, incisor, lumbar region, molar, orbito-sphenoid, rib, scapula, thoracic region	OMIM|611574
Choroid	MEST	2.437037311	2.23E-09	Enzyme: Hydrolase	BrainSpLMD|4232;Eurexp|euxassay_003445|atrium, ventricle;BrainSpMouseDev|17063	OMIM|601029
Choroid	DNAH7	3.879252257	3.13E-09	Motor protein	BrainSpLMD|56171;Eurexp|euxassay_014217|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610061
Choroid	MYO5C	3.019750757	3.21E-09	Motor protein	BrainSpLMD|55930;Eurexp|euxassay_010683|cochlea, lung, oesophagus, olfactory, pancreas, rectum, stomach, submandibular gland primordium, thyroid, trachea	SFARI||Autism, 4 - Minimal evidence;OMIM|610022
Choroid	MAPK15	2.092110422	3.35E-09	Serine/threonine kinase	BrainSpLMD|225689;Eurexp|euxassay_003819|4th ventricle, choroid invagination, diencephalon, dorsal root ganglion, forelimb, hindlimb, medulla oblongata, metanephros, metencephalon, nasal septum, olfactory, orbito-sphenoid, respiratory, rib, telencephalon, turbinate bones, upper arm, upper leg	
Choroid	RIBC2	3.799824948	3.67E-09	Unclassified	BrainSpLMD|26150;Eurexp|euxassay_011227|clavicle, diaphragm, exoccipital bone, femur, humerus, ilio-psoas, intervertebral disc, mandible, maxilla, mesenchyme, orbito-sphenoid, rib, scapula, vault of skull, vertebral cartilage condensation, wall	
Choroid	EGFEM1P	1.631714095	3.68E-09			
Choroid	LAMB1	3.454750736	3.70E-09	Extracellular matrix protein	BrainSpLMD|3912;Eurexp|euxassay_011018|cochlea, incisor, lung, meninges, metanephros, midgut, molar, pharyngo-tympanic tube, renal/urinary system, sublingual gland primordium, submandibular gland primordium, vibrissa;BrainSpMouseDev|16549	SFARI||Autism, 3 - Suggestive evidence;OMIM|150240;HPO|3912|Abnormality of the cerebral white matter, Autosomal recessive inheritance, Cerebellar hypoplasia, Generalized hypotonia, Gray matter heterotopias, Hydrocephalus, Hypoplasia of the brainstem, Intellectual disability, Leukoencephalopathy, Macrocephaly, Muscular hypotonia, Occipital encephalocele, Porencephalic cyst, Progressive, Seizures, Severe global developmental delay, Spastic paraplegia, Type II lissencephaly, Variable expressivity
Choroid	CCDC170	2.197724506	4.54E-09	Unclassified	BrainSpLMD|80129	
Choroid	C11orf70	3.732756182	4.59E-09	Unclassified	BrainSpLMD|85016	
Choroid	SLC7A6	2.319657066	4.82E-09	Membrane transport protein	BrainSpLMD|9057	OMIM|605641
Choroid	RPGR	2.471645055	4.94E-09	Guanine nucleotide exchange factor	BrainSpLMD|6103;Eurexp|euxassay_011540|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|312610;HPO|6103|Abnormal electroretinogram, Abnormality of color vision, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atelectasis, Atypical scarring of skin, Blindness, Cataract, Chronic sinusitis, Conductive hearing impairment, Cone dysfunction syndrome, Cone/cone-rod dystrophy, Dyschromatopsia, Exotropia, Glaucoma, High-frequency hearing impairment, Hyperinsulinemia, Hypermetropia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Macular degeneration, Macular scar, Myopia, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Otitis media, Pendular nystagmus, Photophobia, Progressive night blindness, Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Recurrent respiratory infections, Reduced visual acuity, Rod-cone dystrophy, Sensorineural hearing impairment, Visual impairment, Wide nasal bridge, X-linked inheritance, X-linked recessive inheritance
Choroid	TEX26	4.117207614	5.02E-09	Unclassified	BrainSpLMD|122046	
Choroid	CP	3.295100361	5.02E-09	Enzyme: Oxidoreductase	BrainSpLMD|1356;Eurexp|euxassay_012898|floorplate, olfactory, roof plate, skeletal muscle	OMIM|117700;HPO|1356|Abnormality of extrapyramidal motor function, Aceruloplasminemia, Adult onset, Anemia, Ataxia, Autosomal recessive inheritance, Blepharospasm, Chorea, Cogwheel rigidity, Decreased serum ceruloplasmin, Decreased serum iron, Delayed speech and language development, Dementia, Depressivity, Diabetes mellitus, Dysarthria, Elevated hepatic iron concentration, Hypertonia, Increased serum ferritin, Parkinsonism, Refractory anemia, Retinal degeneration, Scanning speech, Torticollis, Tremor
Choroid	TCTN2	2.541573675	5.06E-09	Unclassified	BrainSpLMD|79867;Eurexp|euxassay_000837|4th ventricle, choroid plexus, lateral recess, turbinate bones, ventricular layer	OMIM|613846;HPO|79867|Abdominal distention, Absent speech, Anophthalmia, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Broad forehead, Cataract, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Cleft palate, Cleft upper lip, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Dysmetria, Encephalocele, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Hyperechogenic kidneys, Hypermetropia, Hyperreflexia, Hypertelorism, Infantile onset, Intellectual disability, Lobar holoprosencephaly, Long face, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Pachygyria, Polydactyly, Polymicrogyria, Postaxial foot polydactyly, Postaxial hand polydactyly, Sclerocornea, Short neck, Short nose, Sloping forehead, Spasticity, Talipes, Talipes equinovarus
Choroid	LRRC71	2.144066533	5.31E-09	Unclassified	BrainSpLMD|149499	
Choroid	FAM47E	4.612185227	5.37E-09	Unclassified	BrainSpLMD|100129583	
Choroid	TTC29	2.020105896	6.97E-09	Unclassified	BrainSpLMD|83894;Eurexp|euxassay_003693|choroid plexus, lateral recess	
Choroid	SPATA17	3.535599015	7.32E-09	Unclassified	BrainSpLMD|128153	OMIM|611032
Choroid	TPD52L1	3.988282412	7.92E-09	Unclassified	BrainSpLMD|7164;Eurexp|euxassay_013576|choroid plexus, otic capsule, petrous part, roof plate;BrainSpMouseDev|21744	OMIM|604069
Choroid	ABLIM1	1.769931857	8.23E-09	Cytoskeletal associated protein	BrainSpLMD|3983	OMIM|602330
Choroid	COL18A1	2.034179705	8.63E-09	Extracellular matrix protein	BrainSpLMD|80781;Eurexp|euxassay_003864|adenohypophysis, bladder, brain, cochlea, cornea, epidermis, genital tubercle, heart, incisor, lung, meninges, mesenchyme, metanephros, molar, naris, olfactory, pharyngo-tympanic tube, respiratory, retina, spinal cord, thymus primordium, tongue, urethra, urethral groove;BrainSpMouseDev|12605	OMIM|120328;HPO|80781|Abnormality of the vitreous humor, Ataxia, Autosomal recessive inheritance, Band keratopathy, Calvarial skull defect, Cerebellar atrophy, Cerebral atrophy, Congenital cataract, Hydrocephalus, Macular degeneration, Macular hypoplasia, Myopia, Nystagmus, Occipital encephalocele, Phenotypic variability, Phthisis bulbi, Polymicrogyria, Progressive visual loss, Retinal detachment, Seizures, Severe Myopia, Ventriculomegaly, Visual loss, Vitreoretinal degeneration
Choroid	C9orf117	3.788361011	8.84E-09			
Choroid	CLMN	2.358492215	8.89E-09	Integral membrane protein	BrainSpLMD|79789;Eurexp|euxassay_002782|bladder, calyces, choroid plexus, foregut-midgut junction, hindgut, hindlimb, lateral recess, limb, mesenchyme, metencephalon, midgut, naris, nose, olfactory, pancreas, pectoral girdle and thoracic body wall, pelvis, rectum, stomach, submandibular gland primordium, telencephalon, testis, thyroid	OMIM|611121
Choroid	IQCG	2.775009519	9.38E-09	Unclassified	BrainSpLMD|84223;Eurexp|euxassay_003706|choroid plexus, lateral recess, olfactory, roof plate, ventricular layer	OMIM|612477
Choroid	GRAMD3	2.866084466	1.01E-08			
Choroid	FAT1	2.145978305	1.24E-08	Adhesion molecule	BrainSpLMD|2195;Eurexp|euxassay_013462|axial skeleton, lung, mandible, maxilla, mesenchyme, rest of mesenchyme, sternum, submandibular gland primordium, vibrissa;BrainSpMouseDev|13884	SFARI||Autism, No category;OMIM|600976;COSMIC||oral squamous cell, chemorefractory CLL, head and neck, pancreatic acinar cell carcinoma, pancreatic
Choroid	PPP1R32	1.885958923	1.25E-08	Unclassified	BrainSpLMD|220004	
Choroid	SPEF2	3.181019907	1.32E-08	Unclassified	BrainSpLMD|79925	OMIM|610172
Choroid	BMP7	2.527378612	1.48E-08	Ligand	BrainSpLMD|655;BrainSpMouseDev|11948	OMIM|112267
Choroid	DNAH11	1.60619005	1.51E-08	Motor protein	BrainSpLMD|8701	OMIM|603339;HPO|8701|Autosomal recessive inheritance, Bronchiectasis, Ciliary dyskinesia, Recurrent respiratory infections
Choroid	RSPH4A	3.2679645	1.64E-08	Unclassified	Eurexp|euxassay_012644|choroid plexus	OMIM|612647;HPO|345895|Abnormal central microtubular pair morphology of respiratory motile cilia, Abnormal ciliary motility, Autosomal recessive inheritance, Bronchiectasis, Chronic rhinitis, Ciliary dyskinesia, Exercise intolerance, Recurrent respiratory infections, Recurrent sinusitis, Short stature
Choroid	ENKUR	3.357657997	1.66E-08	Unclassified	BrainSpLMD|219670	OMIM|611025
Choroid	TPBG	3.556461274	1.69E-08	Integral membrane protein	BrainSpLMD|7162;Eurexp|euxassay_000218|cortex, drainage component, floorplate, fundus region, lateral wall, mantle layer, pelvis, pineal primordium, roof plate, thalamus, ureter, ventricular layer	OMIM|190920
Choroid	GABARAP	1.623663866	1.78E-08	Unclassified	BrainSpLMD|11337	OMIM|605125
Choroid	EEF1A1P6	1.245173527	1.96E-08			
Choroid	PROM1	2.288501718	2.07E-08	Integral membrane protein	BrainSpLMD|8842;BrainSpMouseDev|18889	OMIM|604365;HPO|8842|Abnormal electroretinogram, Abnormality of color vision, Abnormality of macular pigmentation, Abnormality of retinal pigmentation, Abnormality of the choroid, Abnormality of the fovea, Abnormality of the retinal vasculature, Abnormality of the testis, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the macula, Atypical scarring of skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cataract, Central scotoma, Conductive hearing impairment, Cone/cone-rod dystrophy, Dyschromatopsia, Glaucoma, Granular macular appearance, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Macular degeneration, Macular dystrophy, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paroxysmal involuntary eye movements, Perifoveal ring of hyperautofluorescence, Peripheral visual field loss, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Retinal thinning, Rod-cone dystrophy, Sensorineural hearing impairment, Undetectable electroretinogram, Wide nasal bridge, Yellow/white lesions of the macula
Choroid	ID3	2.247603738	2.08E-08	Transcription regulatory protein	BrainSpLMD|3399;BrainSpMouseDev|15676	OMIM|600277;COSMIC||Burkitt lymphoma
Choroid	PPIL6	1.449438656	2.13E-08	Enzyme: Isomerase		
Choroid	COL2A1	2.553184356	2.23E-08	Extracellular matrix protein	BrainSpLMD|1280;Eurexp|euxassay_013804|axial skeleton, cartilaginous ring, cricoid, floorplate, hindgut, mesenchyme, metanephros, midgut, nasal septum, oesophagus, otic capsule, phalanx, stomach, thyroid, turbinate bones, valve, ventricular layer;BrainSpMouseDev|12607	OMIM|120140;COSMIC||chondrosarcoma, enchondroma, Spondyloepiphyseal Dysplasia Congenita, Achondrogenesis Type II, Stickler Syndrome, Type I and others;HPO|1280|Abdominal distention, Abnormal cartilage collagen, Abnormal enchondral ossification, Abnormality of epiphysis morphology, Abnormality of fibula morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the abdominal wall, Abnormality of the carpal bones, Abnormality of the dentition, Abnormality of the foot, Abnormality of the metaphysis, Abnormality of the sternum, Abnormality of the vitreous humor, Abnormality of the wrist, Abnormality of ulnar metaphysis, Abnormality of vertebral epiphysis morphology, Absent styloid process of ulna, Absent vertebral body mineralization, Acetabular spurs, Anisospondyly, Anonychia, Anterior rib cupping, Anteverted nares, Aplasia/Hypoplasia of the capital femoral epiphysis, Aplasia/Hypoplasia of the lungs, Arachnodactyly, Arthralgia, Arthropathy, Aseptic necrosis, Asteroid hyalosis, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Avascular necrosis of the capital femoral epiphysis, Barrel-shaped chest, Beaking of vertebral bodies, Blindness, Brachydactyly, Broad forehead, Broad long bones, Broad palm, Broad thumb, Bulbous nose, C1-C2 subluxation, Cartilage destruction, Cataract, Cervical myelopathy, Cleft palate, Club-shaped proximal femur, Coarse facial features, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Coronal cleft vertebrae, Coxa valga, Coxa vara, Cystic hygroma, Decreased cranial base ossification, Delayed calcaneal ossification, Delayed epiphyseal ossification, Delayed gross motor development, Delayed pubic bone ossification, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Disc-like vertebral bodies, Disproportionate short stature, Disproportionate short-limb short stature, Disproportionate short-trunk short stature, Disproportionate tall stature, Dumbbell-shaped long bone, Edema, Enlarged joints, Enlarged thorax, Epiphyseal dysplasia, Exostoses, Femoral hernia, Flared metaphysis, Flat acetabular roof, Flat capital femoral epiphysis, Flat face, Flattened epiphysis, Flattened, squared-off epiphyses of tubular bones, Flexion contracture, Frontal bossing, Gait disturbance, Generalized hypotonia, Generalized joint laxity, Genu valgum, Genu varum, Glaucoma, Glossoptosis, Growth abnormality, Hearing impairment, Heberden's node, Hip contracture, Hip dislocation, Hip osteoarthritis, Horizontal ribs, Hydrops fetalis, Hyperlordosis, Hypertelorism, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Hypoplasia of the ulna, Hypoplastic ilia, Hypoplastic iliac wing, Hypoplastic ischia, Hypoplastic pelvis, Hypoplastic pubic bone, Hypoplastic scapulae, Inguinal hernia, Intervertebral space narrowing, Irregular femoral epiphysis, Irregular vertebral endplates, Joint dislocation, Joint hyperflexibility, Joint stiffness, Knee osteoarthritis, Kyphoscoliosis, Kyphosis, Large tarsal bones, Lethal skeletal dysplasia, Limb undergrowth, Limitation of joint mobility, Limitation of knee mobility, Limited elbow extension, Limited elbow movement, Limited hip movement, Long philtrum, Low-set ears, Lower limb asymmetry, Lumbar hyperlordosis, Lumbar kyphoscoliosis, Macrocephaly, Malar flattening, Metaphyseal cupping, Metaphyseal dappling, Metaphyseal dysplasia, Metaphyseal enchondromatosis, Metaphyseal irregularity, Metaphyseal widening, Micrognathia, Micromelia, Midface retrusion, Mild neurosensory hearing impairment, Mild short stature, Mitral valve prolapse, Mixed hearing impairment, Motor delay, Multiple enchondromatosis, Muscular hypotonia of the trunk, Myopia, Narrow chest, Narrow femoral neck, Narrow greater sacrosciatic notches, Narrow iliac wings, Narrow mouth, Neonatal short-limb short stature, Neonatal short-trunk short stature, Osteoarthritis, Ovoid vertebral bodies, Pectus carinatum, Pectus excavatum, Pes planus, Pierre-Robin sequence, Platyspondyly, Polyhydramnios, Premature osteoarthritis, Pretibial blistering, Prominent forehead, Prominent interphalangeal joints, Proptosis, Protuberant abdomen, Pugilistic facies, Pulmonary hypoplasia, Recurrent fractures, Recurrent otitis media, Recurrent pneumonia, Respiratory distress, Restrictive ventilatory defect, Retinal detachment, Retinal dysplasia, Retinal thinning, Retinopathy, Rhegmatogenous retinal detachment, Rhizomelia, Round face, Schmorl's node, Scoliosis, Sensorineural hearing impairment, Severe limb shortening, Severe platyspondyly, Severe short stature, Short distal phalanx of finger, Short distal phalanx of the 2nd finger, Short distal phalanx of the 3rd finger, Short distal phalanx of the 4th finger, Short distal phalanx of the 5th finger, Short femoral neck, Short femur, Short foot, Short long bone, Short metacarpal, Short metatarsal, Short neck, Short nose, Short palm, Short phalanx of finger, Short ribs, Short stature, Short thorax, Short thumb, Short toe, Short tubular bones of the hand, Shortening of all middle phalanges of the fingers, Shortening of all proximal phalanges of the fingers, Skeletal dysplasia, Skeletal muscle atrophy, Skin erosion, Splayed epiphyses, Spondyloepimetaphyseal dysplasia, Spondyloepiphyseal dysplasia, Spondylometaphyseal dysplasia, Stiff neck, Stillbirth, Submucous cleft soft palate, Talipes equinovarus, Thickened nuchal skin fold, Thin ribs, Thoracic kyphosis, Tracheomalacia, Type E brachydactyly, Umbilical hernia, Vertebral segmentation defect, Vitreoretinal degeneration, Waddling gait
Choroid	FTH1P5	0.996963923	2.41E-08			
Choroid	ANXA2	2.246782475	2.48E-08	Calcium binding protein	BrainSpLMD|302;Eurexp|euxassay_013682|basal plate, mantle layer, ventral grey horn;BrainSpMouseDev|12091	OMIM|151740
Choroid	MAP3K19	4.543116039	2.49E-08	Dual specificity kinase	BrainSpLMD|80122;Eurexp|euxassay_012730|choroid invagination, choroid plexus, floor plate, floorplate, roof plate, ventricular layer	
Choroid	WDR65	5.056394184	2.55E-08			
Choroid	CCDC37	3.183797587	2.93E-08			
Choroid	CCDC176	0.789190664	2.99E-08			
Choroid	DNAJB13	3.468217354	3.15E-08	Unclassified	BrainSpLMD|374407;Eurexp|euxassay_006246|choroid plexus, lateral recess, ventricular layer	OMIM|610263;HPO|374407|Autosomal recessive inheritance, Recurrent respiratory infections
Choroid	TCP11L2	1.638263216	3.18E-08	Unclassified	BrainSpLMD|255394;Eurexp|euxassay_003138|arm, axial skeleton, clavicle, dorsal root ganglion, femur, humerus, leg, lobe, marginal layer, mesenchyme, penis, ventral grey horn	
Choroid	GRM8	3.582773376	3.31E-08	G protein coupled receptor	BrainSpLMD|2918;Eurexp|euxassay_002446|dorsal root ganglion, mantle layer;BrainSpMouseDev|14599	SFARI||Autism, 6 - Evidence does not support role;OMIM|601116
Choroid	NEK11	3.280187935	3.54E-08	Cell cycle control protein	BrainSpLMD|79858	OMIM|609779
Choroid	CCDC19	3.577436848	4.67E-08			
Choroid	RPL19P18	4.289569487	6.04E-08			
Choroid	DPCD	1.812233226	6.40E-08	Unclassified	BrainSpLMD|25911	OMIM|616467
Choroid	CCDC74B	2.327828143	6.57E-08	Unclassified		
Choroid	NSUN7	1.090817411	7.51E-08	Unclassified	BrainSpLMD|79730;Eurexp|euxassay_008472|choroid invagination, choroid plexus, male, olfactory, roof plate	OMIM|617185
Choroid	CCDC160	3.150506749	7.99E-08			
Choroid	MGST1	2.890996541	8.24E-08	Enzyme: Glutathione transferase	BrainSpLMD|4257;Eurexp|euxassay_002928|adrenal gland, anal canal, axial muscle, bladder, calyces, ductus deferens, epidermis, foregut-midgut junction, head mesenchyme, hindgut, left lung, limb, lobe, marginal layer, midgut, naris, nasal capsule, nucleus pulposus, oesophagus, olfactory, pancreas, pelvis, pituitary, rectum, right lung, stomach, submandibular gland primordium, trachea, urethra, ventricular layer, vibrissa	OMIM|138330
Choroid	PPARGC1A	2.352419121	8.37E-08	Transcription regulatory protein	BrainSpLMD|10891;Eurexp|euxassay_006699|anterior, calyces, dorsal root ganglion, external, facial VII, fundus region, incisor, left ventricle, mantle layer, mesenchyme, oral epithelium, posterior, right ventricle, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|18780	OMIM|604517;HPO|10891|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
Choroid	TCTEX1D2	1.110963018	8.44E-08	Unclassified	BrainSpLMD|255758	OMIM|617353;HPO|255758|Autosomal recessive inheritance, Brachydactyly, Short stature
Choroid	MT.RNR1	1.332609047	9.08E-08			
Choroid	ADAM12	2.135726776	9.76E-08	Metallo protease	BrainSpLMD|8038;Eurexp|euxassay_007599|associated mesenchyme, axial skeleton, bladder, clavicle, diaphragm, femur, fibula, humerus, mandible, maxilla, meninges, mesenchyme, mesentery, metanephros, nasal septum, orbito-sphenoid, peritoneal cavity, radius, rest of mesenchyme, rib, tibia, turbinate bones, ulna, vascular element, vault of skull	OMIM|602714
Choroid	CYSTM1	1.875124721	9.78E-08	Unclassified	BrainSpLMD|84418	
Choroid	WDR52	2.232021952	1.04E-07			
Choroid	FP236383.4	0.268832352	1.08E-07			
Choroid	HBA2	1.398084261	1.13E-07	Transport/cargo protein		OMIM|141850;HPO|3040|Abnormal hemoglobin, Abnormality of metabolism/homeostasis, Anemia, Aplasia/Hypoplasia of the earlobes, Autosomal dominant inheritance, Broad forehead, Bruising susceptibility, Congestive heart failure, Cryptorchidism, Downslanted palpebral fissures, Epicanthus, Failure to thrive, Fatigue, Heinz body anemia, Hemoglobin H, Hemolytic anemia, Hepatomegaly, High forehead, High palate, Hydrocephalus, Hydrops fetalis, Hypertelorism, Hypochromic microcytic anemia, Intellectual disability, Low-set, posteriorly rotated ears, Malar flattening, Microcephaly, Microcytic anemia, Micrognathia, Muscular hypotonia, Neurological speech impairment, Nonspherocytic hemolytic anemia, Oligohydramnios, Pallor, Pectus carinatum, Polyhydramnios, Preeclampsia, Reduced alpha/beta synthesis ratio, Retrognathia, Short neck, Short stature, Short toe, Splenomegaly, Talipes equinovarus, Wide nasal bridge
Choroid	STPG1	4.580770712	1.14E-07	Unclassified	BrainSpLMD|90529	OMIM|615826
Choroid	DGCR6	3.388641131	1.17E-07	Unclassified		OMIM|601279;HPO|8214|Abnormality of the ear, Abnormality of the endocrine system, Abnormality of the hand, Aggressive behavior, Autosomal dominant inheritance, Blepharophimosis, Bulbous nose, Cleft palate, Hypocalcemia, Inguinal hernia, Intellectual disability, Microcephaly, Mood swings, Muscular hypotonia, Nasal speech, Open mouth, Paranoia, Pierre-Robin sequence, Posterior embryotoxon, Recurrent infections, Retinal vascular tortuosity, Retrognathia, Right aortic arch with mirror image branching, Short stature, Specific learning disability, Tetralogy of Fallot, Umbilical hernia, Underdeveloped nasal alae, Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Ventricular septal defect
Choroid	ANXA2P2	2.088709469	1.19E-07		BrainSpLMD|304	
Choroid	ZBED5.AS1	2.68659703	1.34E-07			
Choroid	IFITM3	2.278797892	1.35E-07	Integral membrane protein	BrainSpLMD|10410;Eurexp|euxassay_004558|pancreas, submandibular gland primordium, thymus primordium	OMIM|605579
Choroid	CD63	2.011984881	1.37E-07	Integral membrane protein	BrainSpLMD|967	OMIM|155740
Choroid	COL21A1	3.13335878	1.38E-07	Extracellular matrix protein	BrainSpLMD|81578	OMIM|610002
Choroid	KIAA1751	1.638481256	1.54E-07			
Choroid	ARMC2	2.890539476	1.60E-07	Unclassified	BrainSpLMD|84071;Eurexp|euxassay_010793|choroid invagination, choroid plexus, roof plate, ventricular layer	
Choroid	GPX8	2.774353718	1.63E-07	Unclassified	BrainSpLMD|493869;Eurexp|euxassay_003757|alimentary system, brain, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, spinal cord, tail	OMIM|617172
Choroid	SLC2A12	4.11324112	1.67E-07	Membrane transport protein	BrainSpLMD|154091;Eurexp|euxassay_019741|brain, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|610372
Choroid	15-Sep	1.323549656	1.71E-07			
Choroid	WDR54	2.118581066	1.73E-07	Unclassified	BrainSpLMD|84058;Eurexp|euxassay_007433|embryo	
Choroid	PRND	3.809181578	1.75E-07	Unclassified	BrainSpLMD|23627;Eurexp|euxassay_012638|hindgut, mesenchyme, midgut, stomach, ventricle	OMIM|604263
Choroid	AKR7A2	2.807543369	1.83E-07	Enzyme: Reductase	BrainSpLMD|8574	OMIM|603418
Choroid	RP11.303G3.6	2.787687983	1.88E-07			
Choroid	ANKRD37	3.048631727	1.96E-07	Cell surface receptor	BrainSpLMD|353322	
Choroid	TAF4B	4.504018543	2.02E-07	Transcription factor		OMIM|601689;HPO|6875|Autosomal recessive inheritance, Azoospermia, Decreased testicular size, Increased circulating gonadotropin level, Non-obstructive azoospermia, Obstructive azoospermia
Choroid	STON2	1.606548343	2.08E-07	Unclassified	BrainSpLMD|85439	OMIM|608467
Choroid	KCNK1	2.445962404	2.17E-07	Inward rectifier channel	BrainSpLMD|3775;Eurexp|euxassay_001701|bladder, calyces, cochlea, hindgut, lip, lung, mantle layer, marginal layer, midgut, neural retina, olfactory, pancreas, rectum, rib, stomach, stroma, submandibular gland primordium, trachea, urethra, ventral grey horn	OMIM|601745
Choroid	SLIT2	1.924872373	2.20E-07	Ligand	BrainSpLMD|9353;BrainSpMouseDev|20325	OMIM|603746
Choroid	FBXW9	4.323516951	2.40E-07	Unclassified	BrainSpLMD|84261	OMIM|609074
Choroid	C14orf142	2.906487223	2.43E-07			
Choroid	EEF1A1	1.28659733	2.64E-07	Transcription regulatory protein	BrainSpLMD|1915	OMIM|130590
Choroid	STOX1	1.304083989	2.64E-07	DNA binding protein	BrainSpLMD|219736	OMIM|609397;HPO|219736|Eclampsia, Polygenic inheritance, Preeclampsia
Choroid	BAIAP3	3.490855338	2.90E-07	Unclassified	BrainSpLMD|8938;BrainSpMouseDev|144469	OMIM|604009
Choroid	LINC00948	1.927967116	2.91E-07			
Choroid	PRTG	2.432829777	2.96E-07	Unclassified		OMIM|613261
Choroid	RPE65	4.495645644	2.99E-07	Transport/cargo protein	BrainSpLMD|6121	OMIM|180069;HPO|6121|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Attenuation of retinal blood vessels, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Cerebellar vermis hypoplasia, Conductive hearing impairment, Decreased light- and dark-adapted electroretinogram amplitude, Encephalocele, Eye poking, Fundus atrophy, Glaucoma, Hemiplegia/hemiparesis, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Muscular hypotonia, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Pigmentary retinopathy, Progressive night blindness, Reduced visual acuity, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe visual impairment, Wide nasal bridge
Choroid	PDGFRA	1.435499032	3.12E-07	Receptor tyrosine kinase	BrainSpLMD|5156;BrainSpMouseDev|18361	OMIM|173490;COSMIC||GIST, idiopathic hypereosinophilic syndrome, paediatric glioblastoma, GIST;HPO|5156|Abnormality of the nervous system, Autosomal dominant inheritance, Constipation, Dysphagia, Endocardial fibrosis, Eosinophilia, Fatigue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Hepatomegaly, Hyperpigmentation of the skin, Intestinal obstruction, Large hands, Myalgia, Myeloproliferative disorder, Nausea and vomiting, Neoplasm of the stomach, Neurofibromas, Pruritus, Pulmonary infiltrates, Restrictive cardiomyopathy, Sarcoma, Somatic mutation, Splenomegaly, Sporadic, Urticaria, Venous thrombosis
Choroid	CAPS	2.196223186	3.20E-07	Calcium binding protein	BrainSpLMD|828	OMIM|114212
Choroid	AK1	2.050977062	3.27E-07	Enzyme: Phosphotransferase	BrainSpLMD|203;Eurexp|euxassay_010452|diaphragm, olfactory, vertebral axis muscle system	OMIM|103000;HPO|203|Autosomal recessive inheritance, Hemolytic anemia
Choroid	UBB	1.201785729	3.44E-07	Ubiquitin proteasome system protein	BrainSpLMD|7314	OMIM|191339;HPO|7314|Anterior open-bite malocclusion, Autosomal dominant inheritance, Cleft palate, Gingival overgrowth, Intellectual disability, profound, Micrognathia, Overbite, Seizures
Choroid	CLHC1	2.723297136	3.63E-07	Transcription regulatory protein	BrainSpLMD|130162	
Choroid	RAB11FIP2	0.802846498	3.69E-07	Adapter molecule	BrainSpLMD|22841;Eurexp|euxassay_014448|ductus deferens, ventricular layer	OMIM|608599
Choroid	RSPH9	3.263912867	3.80E-07	Unclassified	BrainSpLMD|221421;Eurexp|euxassay_001833|choroid plexus, lateral recess	OMIM|612648;HPO|221421|Abnormal central microtubular pair morphology of respiratory motile cilia, Autosomal recessive inheritance, Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Exercise intolerance, Nonmotile sperm, Recurrent respiratory infections, Short stature
Choroid	PARD6B	0.909253165	4.02E-07	Adapter molecule	BrainSpLMD|84612	OMIM|608975
Choroid	DNAI1	4.487966817	4.22E-07	Motor protein	BrainSpLMD|27019	OMIM|604366;HPO|27019|Abnormal respiratory motile cilium morphology, Abnormality of the cornea, Absent frontal sinuses, Anosmia, Asplenia, Autosomal recessive inheritance, Bronchiectasis, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Communicating hydrocephalus, Conductive hearing impairment, Headache, Heterogeneous, Immotile cilia, Male infertility, Nasal polyposis, Pneumonia, Recurrent respiratory infections, Sinusitis, Situs inversus totalis
Choroid	CLDN5	4.491054721	4.51E-07	Adhesion molecule	BrainSpLMD|7122;BrainSpMouseDev|12525	OMIM|602101
Choroid	SLC5A6	1.77736645	4.76E-07	Membrane transport protein	BrainSpLMD|8884;Eurexp|euxassay_019690|axial muscle, choroid plexus, lung, pectoral girdle and thoracic body wall, pericardium, pituitary, urethra	OMIM|604024
Choroid	STK33	3.033521273	5.03E-07	Serine/threonine kinase	BrainSpLMD|65975;Eurexp|euxassay_016521|olfactory, ventricular layer, vomeronasal organ	OMIM|607670
Choroid	IQUB	3.092989919	5.12E-07	Unclassified	BrainSpLMD|154865	
Choroid	HSPB1	1.061475244	5.52E-07	Chaperone	BrainSpLMD|3315	OMIM|602195;HPO|3315|Adult onset, Areflexia, Areflexia of lower limbs, Autosomal dominant inheritance, Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Difficulty walking, Distal amyotrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Distal sensory impairment, EMG: chronic denervation signs, EMG: neuropathic changes, Fasciculations, Foot dorsiflexor weakness, Heterogeneous, Hyporeflexia, Hyporeflexia of lower limbs, Impaired pain sensation, Impaired temperature sensation, Limb fasciculations, Lower limb muscle weakness, Muscle cramps, Paresis of extensor muscles of the big toe, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Reduced tendon reflexes, Slow progression, Split hand, Steppage gait, Talipes equinovarus, Ulnar claw, Upper limb amyotrophy
Choroid	SDC4	1.81906447	5.78E-07	Cell surface receptor	BrainSpLMD|6385;Eurexp|euxassay_007889|calyces, clavicle, epithelium, exoccipital bone, femur, fundus region, hindgut, hip, humerus, intervertebral disc, lung, metatarsus, midgut, nasal septum, oesophagus, orbito-sphenoid, otic capsule, pancreas, pelvis, petrous part, rectum, rib, stomach, submandibular gland primordium, tarsus, thyroid, trachea, turbinate, urethra, vertebral cartilage condensation, vibrissa	OMIM|600017;COSMIC||NSCLC
Choroid	PTPLAD1	1.373948161	5.92E-07			
Choroid	CCDC181	2.003361382	5.97E-07	Unclassified	BrainSpLMD|57821;Eurexp|euxassay_004163|3rd ventricle, 4th ventricle, choroid invagination	
Choroid	POLR2L	1.917947753	6.32E-07	RNA polymerase	BrainSpLMD|5441;Eurexp|euxassay_019574|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, liver, lung, midgut, nucleus pulposus, oesophagus, pancreas, stomach, submandibular gland primordium, testis, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|601189
Choroid	C11orf58	0.607813834	6.43E-07	Unclassified	BrainSpLMD|10944	
Choroid	TEX9	1.76316604	6.45E-07	Unclassified	BrainSpLMD|374618	
Choroid	AHNAK	1.639922148	6.45E-07	Unclassified	BrainSpLMD|79026	OMIM|103390
Choroid	CYB561	3.206425021	6.53E-07	Enzyme: Reductase	BrainSpLMD|1534;Eurexp|euxassay_010549|cervical, cervico-thoracic, choroid invagination, choroid plexus, mantle layer, olfactory, roof plate, submandibular gland primordium, thoracic, trigeminal V, vomeronasal organ	OMIM|600019
Choroid	RPS3AP26	1.225347399	7.01E-07			
Choroid	HSP90B1	1.808803258	7.07E-07	Heat shock protein	BrainSpLMD|7184;Eurexp|euxassay_000099|body-wall mesenchyme, dermis, epidermis, nucleus pulposus	OMIM|191175
Choroid	TMBIM6	1.39799202	7.24E-07	Integral membrane protein	BrainSpLMD|7009	OMIM|600748
Choroid	RPS3A	1.417519151	8.12E-07	Ribosomal subunit		OMIM|180478
Choroid	BSG	2.275174754	8.25E-07	Cell surface receptor	BrainSpLMD|682	OMIM|109480
Choroid	LINC01088	3.472715222	9.34E-07			
Choroid	ARID5B	1.742239694	9.45E-07	DNA binding protein	Eurexp|euxassay_016566|mantle layer;BrainSpMouseDev|47212	OMIM|608538
Choroid	CCDC30	2.069197461	9.53E-07	Cytoskeletal protein	BrainSpLMD|728621;Eurexp|euxassay_014067|choroid plexus, pancreas	
Choroid	OSBPL1A	1.468622515	9.87E-07	Transport/cargo protein	BrainSpLMD|114876	OMIM|606730
Choroid	RAB3GAP2	1.177097523	1.01E-06	GTPase activating protein	BrainSpLMD|25782	OMIM|609275;HPO|25782|Abnormal dermatoglyphics, Abnormal toenail morphology, Abnormality of retinal pigmentation, Abnormality of the distal phalanx of finger, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Asymmetry of the ears, Autosomal recessive inheritance, Brachycephaly, Broad fingertip, Broad nasal tip, Cardiomyopathy, Cataract, Cerebral cortical atrophy, Clitoral hypoplasia, Congenital cataract, Congestive heart failure, Cortical visual impairment, Cryptorchidism, Delayed puberty, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, Feeding difficulties in infancy, Flexion contracture, Furrowed tongue, Generalized hirsutism, Global brain atrophy, Global developmental delay, High palate, Hyperlordosis, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypotelorism, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphosis, Lissencephaly, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Macrotia, Malar flattening, Metatarsus adductus, Microcephaly, Microcornea, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Misalignment of teeth, Muscular hypotonia, Muscular hypotonia of the trunk, Optic atrophy, Overlapping toe, Pachygyria, Pectus carinatum, Pectus excavatum, Polymicrogyria, Posteriorly rotated ears, Postnatal growth retardation, Postnatal microcephaly, Prematurely aged appearance, Prominent antitragus, Prominent nasal bridge, Prominent nipples, Recurrent respiratory infections, Scoliosis, Scrotal hypoplasia, Severe global developmental delay, Short metacarpal, Short nose, Short palm, Short phalanx of finger, Short philtrum, Short stature, Short toe, Slender ulna, Spasticity, Talipes equinovarus, Talipes valgus, Tracheomalacia, Ulnar deviation of finger, Undetectable visual evoked potentials, Wide nasal bridge
Choroid	COL9A1	2.550352218	1.01E-06	Extracellular matrix protein	BrainSpLMD|1297;Eurexp|euxassay_011520|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, hyoid bone, mandible, maxilla, metacarpus, metatarsus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, radius, rib, scapula, sternum, submandibular gland primordium, temporal bone, thyroid, tibia, trachea, turbinate, ulna, vault of skull;BrainSpMouseDev|12622	OMIM|120210;HPO|1297|Abnormality of epiphysis morphology, Abnormality of the knee, Amblyopia, Arthralgia, Arthralgia of the hip, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Childhood onset, Cleft palate, Degenerative vitreoretinopathy, Epiphyseal dysplasia, Flat capital femoral epiphysis, Flat distal femoral epiphysis, Flat face, Gait disturbance, Genu valgum, Hip dysplasia, Irregular distal femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Limitation of joint mobility, Malar flattening, Micrognathia, Micromelia, Multiple epiphyseal dysplasia, Myopia, Osteoarthritis, Platyspondyly, Retinal detachment, Schmorl's node, Sensorineural hearing impairment, Severe Myopia, Short stature, Small epiphyses, Vitreoretinal degeneration
Choroid	NUP62CL	2.597955714	1.03E-06	Unclassified	BrainSpLMD|54830	
Choroid	EEF1B2	1.663745139	1.07E-06	Translation regulatory protein	BrainSpLMD|1933	OMIM|600655
Choroid	SPAG1	2.640272007	1.08E-06	GTPase	BrainSpLMD|6674	OMIM|603395;HPO|6674|Autosomal recessive inheritance, Bronchiectasis, Chronic bronchitis, Ciliary dyskinesia, Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Respiratory insufficiency due to defective ciliary clearance, Rhinitis, Sinusitis, Situs inversus totalis
Choroid	WDR93	3.78373598	1.15E-06	Unclassified	BrainSpLMD|56964	SFARI||Autism, 5 - Hypothesized but untested
Choroid	ATP5O	1.229201601	1.21E-06			
Choroid	SPCS1	0.98241178	1.22E-06	Unclassified	BrainSpLMD|28972;Eurexp|euxassay_008166|mandible, maxilla	OMIM|610358
Choroid	CNKSR3	1.123221714	1.26E-06	Unclassified	BrainSpLMD|154043	OMIM|617476
Choroid	LINC01091	2.982599518	1.28E-06			
Choroid	FTH1P10	1.286996777	1.30E-06			
Choroid	EPPK1	2.6104182	1.31E-06	Cytoskeletal associated protein	Eurexp|euxassay_008063|epidermis, incisor, larynx, left lung, midgut, molar, naris, oesophagus, olfactory, oral epithelium, pancreas, respiratory, right lung, stomach, submandibular gland primordium, trachea, urethra, ventricle, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|607553
Choroid	OSCP1	3.42914185	1.32E-06	Unclassified	BrainSpLMD|127700;Eurexp|euxassay_003874|choroid plexus, lateral recess, olfactory, ventricle	OMIM|608854
Choroid	KATNAL2	4.259366313	1.34E-06	ATPase;Enzyme: Phosphatase	BrainSpLMD|83473	SFARI||Autism, 1 - High confidence;OMIM|614697
Choroid	PPA2	1.292267512	1.46E-06	Enzyme: Phosphatase	BrainSpLMD|27068	OMIM|609988;HPO|27068|Autosomal recessive inheritance, Bradycardia, Congestive heart failure, Myocardial fibrosis, Myocarditis
Choroid	EEF1A1P5	1.404080344	1.47E-06			
Choroid	ZFYVE16	0.738371695	1.47E-06	Membrane transport protein	BrainSpLMD|9765	OMIM|608880
Choroid	COBLL1	2.091230192	1.48E-06	Unclassified	BrainSpLMD|22837;Eurexp|euxassay_012201|adrenal gland, fundus, hindgut, metanephros, midgut, stomach, submandibular gland primordium, testis, thymus primordium, vibrissa	OMIM|610318
Choroid	MT.CO2	1.095054576	1.49E-06			
Choroid	RPS3AP5	1.028331526	1.51E-06			
Choroid	PCAT1	3.163211378	1.52E-06			OMIM|616043
Choroid	RREB1	0.65215621	1.54E-06	Transcription factor	BrainSpLMD|6239;Eurexp|euxassay_007568|mantle layer;BrainSpMouseDev|44592	OMIM|602209;HPO|6239|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
Choroid	KIAA1377	2.312241402	1.55E-06			
Choroid	PFDN5	1.140114645	1.56E-06	Chaperone	BrainSpLMD|5204	OMIM|604899
Choroid	PSME2	2.322569844	1.57E-06	Ubiquitin proteasome system protein	BrainSpLMD|5721;Eurexp|euxassay_007332|thymus primordium	OMIM|602161
Choroid	BICC1	0.473420696	1.62E-06	RNA binding protein	BrainSpLMD|80114	OMIM|614295
Choroid	AQP1	4.173306424	1.67E-06	Water channel	BrainSpLMD|358;Eurexp|euxassay_002187|Meckel's cartilage, axial skeleton, choroid plexus, clavicle, ductus deferens, exoccipital bone, humerus, lip, lobe, mandible, mesenchyme, nasal septum, orbito-sphenoid, pelvic girdle, phalanx, rib, thyroid, tongue, turbinate, valve, vault of skull, vibrissa	OMIM|107776
Choroid	DAB2	2.586068884	1.78E-06	Adapter molecule	BrainSpLMD|1601	OMIM|601236
Choroid	PTPN14	0.837803678	1.98E-06	Tyrosine phosphatase	BrainSpLMD|5784;Eurexp|euxassay_009623|axial skeleton, metanephros, nasal septum, oesophagus, submandibular gland primordium, vibrissa	OMIM|603155;HPO|5784|Autosomal recessive inheritance, Choanal atresia, High palate, Lymphedema, Pericardial effusion
Choroid	SLC30A10	2.249255802	2.23E-06	Transport/cargo protein	BrainSpLMD|55532	OMIM|611146;HPO|55532|Autosomal recessive inheritance, Bradykinesia, Cirrhosis, Decreased liver function, Dysarthria, Dystonia, Elevated hepatic transaminases, Hepatomegaly, Increased total iron binding capacity, Parkinsonism, Polycythemia, Poor fine motor coordination, Postural instability, Rigidity, Tremor, Variable expressivity
Choroid	NECAB1	1.632029151	2.28E-06	Calcium binding protein	BrainSpLMD|64168;Eurexp|euxassay_005971|embryo	
Choroid	LDHB	1.215032022	2.36E-06	Enzyme: Dehydrogenase	BrainSpLMD|3945	OMIM|150100
Choroid	RPS6	1.033677059	2.48E-06	Ribosomal subunit	BrainSpLMD|6194	OMIM|180460
Choroid	SLC22A5	1.668207011	2.62E-06	Transport/cargo protein	BrainSpLMD|6584	OMIM|603377;HPO|6584|Acute encephalopathy, Autosomal recessive inheritance, Cardiomegaly, Clumsiness, Coma, Confusion, Congestive heart failure, Decreased carnitine level in liver, Decreased plasma carnitine, Elevated hepatic transaminases, Encephalopathy, Endocardial fibroelastosis, Excessive daytime somnolence, Failure to thrive, Generalized hypotonia, Generalized tonic-clonic seizures with focal onset, Hepatic steatosis, Hepatomegaly, Hyperammonemia, Hypertrophic cardiomyopathy, Impaired gluconeogenesis, Lethargy, Muscle weakness, Myopathy, Neck muscle weakness, Recurrent hypoglycemia, Reduced muscle carnitine level, Vomiting
Choroid	ENO4	2.156366553	2.64E-06		Eurexp|euxassay_004944|choroid invagination, choroid plexus, olfactory	OMIM|131375
Choroid	C4orf22	3.696582691	2.67E-06	Unclassified	BrainSpLMD|255119	
Choroid	NEK10	2.528674763	2.77E-06	Dual specificity kinase	BrainSpLMD|152110	
Choroid	MARVELD2	2.426345869	2.79E-06	Unclassified	Eurexp|euxassay_003022|bladder, calyces, foregut-midgut junction, hindgut, midgut, nasal capsule, olfactory, pancreas, pelvis, pituitary, rectum, stomach, urethra	OMIM|610572;HPO|153562|Autosomal recessive inheritance, Prelingual sensorineural hearing impairment
Choroid	TMEM230	1.948321342	2.80E-06	Integral membrane protein	BrainSpLMD|29058	OMIM|617019
Choroid	RP11.89K21.1	1.414254801	2.80E-06			
Choroid	PIP5K1B	2.775902519	2.83E-06	Lipid Kinase	BrainSpLMD|8395	OMIM|602745
Choroid	CHCHD1	0.79026265	2.90E-06	Unclassified	BrainSpLMD|118487;Eurexp|euxassay_007424|embryo	OMIM|608842
Choroid	PRNP	2.032925908	2.91E-06	Membrane bound ligand	BrainSpLMD|5621;Eurexp|euxassay_007857|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, mantle layer, metanephros, neural retina, olfactory, thoracic, tongue, trachea, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ;BrainSpMouseDev|18885	OMIM|176640;HPO|5621|Abdominal symptom, Adult onset, Aggressive behavior, Akinetic mutism, Anxiety, Apathy, Aphasia, Apnea, Apraxia, Areflexia, Astrocytosis, Ataxia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Babinski sign, Basal ganglia gliosis, Bradykinesia, Central nervous system degeneration, Cerebellar atrophy, Childhood onset, Chorea, Clumsiness, Confusion, Constipation, Deficit in phonologic short-term memory, Delusions, Dementia, Depressivity, Diffuse spongiform leukoencephalopathy, Diplopia, Dysarthria, Dysautonomia, Dysmetria, Dysphagia, EEG with persistent abnormal rhythmic activity, Emotional lability, Encephalopathy, Extrapyramidal muscular rigidity, Fever, Focal T2 hyperintense basal ganglia lesion, Gait ataxia, Gliosis, Global brain atrophy, Hallucinations, Hemiparesis, Hyperhidrosis, Hyperreflexia, Hypersomnia, Impaired smooth pursuit, Incoordination, Insomnia, Irritability, Jaw pain, Limb ataxia, Loss of facial expression, Lower limb muscle weakness, Memory impairment, Muscle weakness, Myoclonus, Neurofibrillary tangles, Neuronal loss in central nervous system, Parkinsonism, Perseveration, Personality changes, Phenotypic variability, Poor visual behavior for age, Progressive cerebellar ataxia, Progressive extrapyramidal muscular rigidity, Progressive forgetfulness, Psychosis, Rapidly progressive, Restlessness, Rigidity, Seizures, Senile plaques, Short attention span, Sleep disturbance, Slurred speech, Spastic dysarthria, Spastic hemiparesis, Spasticity, Specific learning disability, Stroke-like episode, Supranuclear gaze palsy, Tremor, Truncal ataxia, Unsteady gait, Urinary retention, Visual impairment, Weight loss
Choroid	HOOK1	2.698992741	2.93E-06	Cytoskeletal associated protein	BrainSpLMD|51361	OMIM|607820
Choroid	SRI	1.184917917	3.03E-06	Calcium binding protein	BrainSpLMD|6717	OMIM|182520
Choroid	CTGF	2.760027448	3.12E-06	Extracellular matrix protein	BrainSpLMD|1490;Eurexp|euxassay_004838|alimentary system, aorta, arch of aorta, axial skeleton, basioccipital bone, basisphenoid bone, bladder, cardiac muscle, carotid artery, cartilage, clavicle, cortex, cricoid, descending, dorsal aorta, exoccipital bone, fibula, humerus, incisor, laryngeal, larynx, lung, meninges, mesenchyme, metanephros, metatarsus, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, palatal shelf, pelvic girdle, petrous part, phalanx, pharyngo-tympanic tube, pulmonary artery, pulmonary trunk, respiratory tract, rib, scapula, skeletal muscle, skeleton, sternum, stomach, temporal bone, thoracic aorta, thyroid, tibia, trachea, tubo-tympanic recess, turbinate bones, umbilical artery, vault of skull, ventricle, ventricular layer, vomeronasal organ;BrainSpMouseDev|13996	OMIM|121009;HPO|1490|Arthralgia, Arthritis, Autoimmunity, Carious teeth, Dyspareunia, Dysphagia, Dyspnea, Flexion contracture, Gastroesophageal reflux, Hypopigmented skin patches, Malabsorption, Mucosal telangiectasiae, Muscle weakness, Narrow foramen obturatorium, Nausea and vomiting, Oliguria, Osteolysis, Pulmonary fibrosis, Pulmonary infiltrates, Skin ulcer, Telangiectasia of the skin, Xerostomia
Choroid	DYNC2LI1	2.095061581	3.16E-06	Motor protein	BrainSpLMD|51626	OMIM|617083;HPO|51626|Abnormality of oral frenula, Abnormality of oral mucosa, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the fingernails, Abnormality of the heart valves, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Aplasia/Hypoplasia of the lungs, Atrial septal defect, Atrioventricular canal defect, Autosomal recessive inheritance, Brachydactyly, Capitate-hamate fusion, Cone-shaped epiphysis, Conical incisor, Cryptorchidism, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Epispadias, Failure to thrive, Foot polydactyly, Genu valgum, Hand polydactyly, Hepatomegaly, Horizontal ribs, Hypodontia, Hypoplastic toenails, Hypospadias, Intrauterine growth retardation, Low-set ears, Microdontia, Micromelia, Nail dysplasia, Narrow chest, Neonatal short-limb short stature, Polyhydramnios, Postaxial hand polydactyly, Respiratory insufficiency, Short distal phalanx of finger, Short foot, Short ribs, Short stature, Short thorax, Situs inversus totalis, Skeletal dysplasia, Splenomegaly, Strabismus, Ventricular septal defect
Choroid	C16orf46	0.832632428	3.20E-06	Unclassified	BrainSpLMD|123775	
Choroid	ITM2C	1.23411255	3.37E-06	Integral membrane protein	BrainSpLMD|81618	OMIM|609554
Choroid	WDR66	3.092536236	3.39E-06	Unclassified	BrainSpLMD|144406	
Choroid	ISCU	1.57947071	3.73E-06	Unclassified	BrainSpLMD|23479	OMIM|611911;HPO|23479|Abnormal iron deposition in mitochondria, Autosomal recessive inheritance, Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex II, Decreased activity of mitochondrial complex III, Dyspnea, Elevated serum creatine phosphokinase, Exercise intolerance, Increased intramyocellular lipid droplets, Increased serum lactate, Juvenile onset, Lactic acidosis, Mitochondrial myopathy, Muscle cramps, Muscle weakness, Myoglobinuria, Myopathy, Palpitations, Sideroblastic anemia, Subsarcolemmal accumulations of abnormally shaped mitochondria
Choroid	C21orf59	2.239081743	3.73E-06	Unclassified	BrainSpLMD|56683;Eurexp|euxassay_006908|cerebral cortex, choroid invagination, choroid plexus, olfactory, roof plate	OMIM|615494;HPO|56683|Autosomal recessive inheritance, Bronchiectasis, Chronic bronchitis, Ciliary dyskinesia, Infertility, Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Reduced sperm motility, Respiratory insufficiency due to defective ciliary clearance, Rhinitis, Sinusitis, Situs inversus totalis
Choroid	AURKAIP1	1.096051326	3.78E-06	Enzyme regulator;Cell cycle control protein		OMIM|609183
Choroid	SPAG8	2.699142543	3.82E-06	Unclassified	BrainSpLMD|26206	OMIM|605731
Choroid	IQCA1	3.181091151	3.84E-06	Unclassified	BrainSpLMD|79781	
Choroid	MT.RNR2	1.149201002	3.95E-06			
Choroid	SERF2	1.754465123	4.06E-06	RNA binding protein	BrainSpLMD|10169;Eurexp|euxassay_007238|cranium	OMIM|605054
Choroid	RPS23	0.592400665	4.11E-06	Ribosomal subunit	BrainSpLMD|6228	OMIM|603683;HPO|6228|Abnormality of the pinna, Autistic behavior, Autosomal dominant inheritance, Cleft palate, Conductive hearing impairment, Depressed nasal bridge, Epicanthus, Flat occiput, Generalized hypotonia, High palate, Highly arched eyebrow, Increased number of teeth, Intellectual disability, mild, Long eyelashes, Low-set ears, Microcephaly, Motor delay, Short stature, Single transverse palmar crease, Thick eyebrow
Choroid	TCTN1	2.832263932	4.12E-06	Unclassified	BrainSpLMD|79600	OMIM|609863;HPO|79600|Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Cerebellar vermis hypoplasia, Episodic tachypnea, Feeding difficulties in infancy, Gait disturbance, Global developmental delay, Intellectual disability, Long face, Muscular hypotonia, Nystagmus, Oculomotor apraxia
Choroid	C1orf168	3.006530609	4.24E-06			
Choroid	RNF144B	3.01172354	4.62E-06	Ubiquitin proteasome system protein	BrainSpLMD|255488;Eurexp|euxassay_001593|Meckel's cartilage, basisphenoid bone, bladder, exoccipital bone, frontal bone primordium, incisor, molar, neural retina, oral epithelium, orbito-sphenoid, otic capsule, pectoral girdle and thoracic body wall, rib, tongue, turbinate, vault of skull, ventricular layer, vibrissa	
Choroid	RP11.175P13.3	4.119045848	4.64E-06			
Choroid	LSR	1.213582974	4.66E-06	Integral membrane protein	BrainSpLMD|51599;Eurexp|euxassay_003312|bladder, foregut-midgut junction, glomeruli, hindgut, incisor, left lung, loop, midgut, molar, naris, oesophagus, olfactory, pancreas, rectum, right lung, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, trachea, urethra, vibrissa;BrainSpMouseDev|33428	OMIM|616582
Choroid	NR3C1	2.66343813	4.82E-06	Nuclear receptor;Transcription factor	BrainSpLMD|2908;BrainSpMouseDev|14591	OMIM|138040;HPO|2908|Abnormal serum testosterone level, Acne, Adrenal hyperplasia, Autosomal dominant inheritance, Decreased circulating aldosterone level, Fatigue, Hirsutism, Hypertension, Hypoglycemia, Hypokalemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased urinary cortisol level, Metabolic alkalosis, Oligomenorrhea
Choroid	NDUFA2	1.576586597	4.83E-06	Enzyme: Oxidoreductase	BrainSpLMD|4695	OMIM|602137;HPO|4695|Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
Choroid	TEKT2	2.924535751	5.01E-06	Structural protein	BrainSpLMD|27285	OMIM|608953
Choroid	PRAP1	1.687994092	5.10E-06	Unclassified	BrainSpLMD|118471;Eurexp|euxassay_001432|lower jaw	OMIM|609776
Choroid	CPNE8	0.636039309	5.29E-06	Unclassified	BrainSpLMD|144402	
Choroid	FAM179A	4.022335155	5.34E-06			
Choroid	TTC26	1.890456866	5.36E-06	Unclassified	BrainSpLMD|79989	OMIM|617453
Choroid	GCHFR	3.270748781	5.42E-06	Unclassified	BrainSpLMD|2644;Eurexp|euxassay_005374|mantle layer, marginal layer	OMIM|602437
Choroid	TSGA10	3.109035423	5.42E-06	Unclassified	BrainSpLMD|80705	OMIM|607166
Choroid	DLEC1	3.521744806	5.45E-06	Unclassified	BrainSpLMD|9940	OMIM|604050;HPO|9940|Abnormality of the voice, Alveolar cell carcinoma, Autosomal dominant inheritance, Autosomal recessive inheritance, Chest pain, Clinodactyly of the 5th toe, Cough, Esophageal carcinoma, Feeding difficulties in infancy, Nausea and vomiting, Squamous cell carcinoma
Choroid	ALDOA	1.489105744	5.50E-06	Enzyme: Lyase;Enzyme: Aldolase	BrainSpLMD|226	OMIM|103850;HPO|226|Autosomal recessive inheritance, Cholecystitis, Cholelithiasis, Delayed puberty, Epicanthus, Jaundice, Low posterior hairline, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Ptosis, Short neck, Short stature, Splenomegaly
Choroid	ACOT11	3.168871355	5.75E-06	Enzyme: Esterase	BrainSpLMD|26027	OMIM|606803
Choroid	RPSAP9	1.774096262	5.76E-06			
Choroid	CDH6	0.359263999	5.79E-06	Adhesion molecule	BrainSpLMD|1004;BrainSpMouseDev|12348	OMIM|603007
Choroid	PTPRC	2.468052924	6.96E-06	Receptor tyrosine phosphatase	BrainSpLMD|5788;Eurexp|euxassay_007819|embryo, thymus primordium;BrainSpMouseDev|19027	SFARI||Autism, No category;OMIM|151460;COSMIC||T-ALL;HPO|5788|Autosomal recessive inheritance, Decrease in T cell count, Diarrhea, Eczema, Failure to thrive secondary to recurrent infections, Hepatomegaly, Lymphadenopathy, Oral ulcer, Otitis media, Recurrent opportunistic infections, Severe combined immunodeficiency, Splenomegaly
Choroid	TTC6	3.062178936	7.03E-06			
Choroid	PLA2G16	2.656111353	7.05E-06	Unclassified	BrainSpLMD|11145	OMIM|613867
Choroid	PKM	1.156197624	7.16E-06	Enzyme: Phosphotransferase	BrainSpLMD|5315	OMIM|179050
Choroid	LEPR	2.834929287	7.21E-06	Cell surface receptor	BrainSpLMD|3953;Eurexp|euxassay_010749|axial skeleton, footplate, handplate, mandible, maxilla, meninges, mesenchyme, otic capsule, palatal shelf, pelvic girdle, petrous part, rib, scapula;BrainSpMouseDev|16618	OMIM|601007;HPO|3953|Abnormal hypothalamus morphology, Absence of secondary sex characteristics, Accelerated skeletal maturation, Aggressive behavior, Decreased T cell activation, Decreased number of CD4+ T cells, Decreased serum estradiol, Decreased serum leptin, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Emotional lability, Growth hormone deficiency, Gynecomastia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hypertriglyceridemia, Hypoplasia of the ovary, Immune dysregulation, Insulin-resistant diabetes mellitus, Obesity, Orthostatic hypotension due to autonomic dysfunction, Pituitary hypothyroidism, Polyphagia, Primary amenorrhea, Recurrent upper respiratory tract infections
Choroid	PRCP	2.905445157	7.52E-06	Carboxypeptidase	BrainSpLMD|5547;Eurexp|euxassay_006670|axial muscle, basioccipital bone, lobe, lung, mandible, maxilla, meninges, mesenchyme, orbito-sphenoid, rib, skeletal muscle, thymus primordium	OMIM|176785
Choroid	LMAN1	1.023079429	7.53E-06	Chaperone	BrainSpLMD|3998	OMIM|601567;HPO|3998|Abnormal bleeding, Autosomal recessive inheritance, Reduced factor V activity, Reduced factor VIII activity
Choroid	DNALI1	2.598522736	7.64E-06	Structural protein	BrainSpLMD|7802;Eurexp|euxassay_011747|choroid invagination, choroid plexus, epithelium, olfactory	OMIM|602135
Choroid	RDH10	1.688734789	7.77E-06	Enzyme: Dehydrogenase	BrainSpLMD|157506;Eurexp|euxassay_005601|bladder, brain, footplate, genital tubercle, handplate, lip, mesothelium, midgut, naris, olfactory, rectum, spinal cord, stomach	OMIM|607599
Choroid	EEF1A1P13	0.945500397	8.00E-06			
Choroid	KIF27	0.754612791	8.30E-06	Motor protein	BrainSpLMD|55582;Eurexp|euxassay_011294|choroid plexus, floor plate, floorplate	OMIM|611253
Choroid	SLC20A2	2.203524342	8.42E-06	Membrane transport protein	BrainSpLMD|6575	OMIM|158378;HPO|6575|Abnormality of neuronal migration, Adult onset, Athetosis, Autosomal dominant inheritance, Basal ganglia calcification, Bradykinesia, Calcification of the small brain vessels, Cerebral calcification, Chorea, Corneal opacity, Dense calcifications in the cerebellar dentate nucleus, Depressivity, Dysarthria, Dysdiadochokinesis, Dystonia, Gait disturbance, Hepatomegaly, Hyperreflexia, Intrauterine growth retardation, Limb dysmetria, Mask-like facies, Memory impairment, Mental deterioration, Microcephaly, Parkinsonism, Postural instability, Progressive, Psychosis, Rigidity, Seizures, Subcutaneous hemorrhage, Thrombocytopenia, Tremor, Urinary incontinence, Ventriculomegaly
Choroid	FOXJ1	2.017765797	8.52E-06	Transcription factor	BrainSpLMD|2302;Eurexp|euxassay_019653|choroid plexus, floorplate, olfactory;BrainSpMouseDev|14999	OMIM|602291
Choroid	SPATS2L	0.897130196	8.68E-06	Unclassified	BrainSpLMD|26010;Eurexp|euxassay_013635|bladder, exoccipital bone, mantle layer, mesenchyme, oesophagus, orbito-sphenoid, penis, pharyngo-tympanic tube, tongue, turbinate, vertebral axis muscle system, vibrissa	OMIM|613817
Choroid	MLF1	2.336835039	8.70E-06	Unclassified	BrainSpLMD|4291;Eurexp|euxassay_009918|choroid invagination, choroid plexus, roof plate	OMIM|601402;COSMIC||AML
Choroid	ERGIC3	1.476794258	8.89E-06	Unclassified	BrainSpLMD|51614	OMIM|616971
Choroid	RPS3AP6	1.151715453	9.00E-06			
Choroid	WDR35	1.493909739	9.20E-06	Unclassified	BrainSpLMD|57539	OMIM|613602;HPO|57539|Abdominal distention, Abnormal diaphysis morphology, Abnormal pelvis bone ossification, Abnormal toenail morphology, Abnormality of cardiovascular system morphology, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormality of the pinna, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Anteverted nares, Autosomal recessive inheritance, Blepharophimosis, Bowing of the long bones, Brachydactyly, Cleft upper lip, Congenital hepatic fibrosis, Craniosynostosis, Cryptorchidism, Cystic hygroma, Depressed nasal bridge, Disproportionate short-limb short stature, Dolichocephaly, Ectodermal dysplasia, Epicanthus, Everted lower lip vermilion, Finger syndactyly, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypertelorism, Hypodontia, Hypoplasia of penis, Hypoplastic scapulae, Hypospadias, Hypotelorism, Inguinal hernia, Joint hyperflexibility, Joint laxity, Lethal skeletal dysplasia, Long philtrum, Low-set ears, Macrocephaly, Microdontia, Micrognathia, Micromelia, Narrow chest, Osteoporosis, Pectus excavatum, Polycystic kidney dysplasia, Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Prominent occiput, Pulmonary hypoplasia, Renal cyst, Renal hypoplasia, Respiratory insufficiency, Rhizomelia, Short distal phalanx of finger, Short foot, Short long bone, Short neck, Short palm, Short ribs, Short thorax, Sparse hair, Syndactyly, Telecanthus, Thoracic dysplasia, Urethrovaginal fistula, Uterus didelphys, Wide nose, Widely spaced teeth
Choroid	FAM227A	1.527706015	9.25E-06			
Choroid	HBG2	0.876291385	9.77E-06	Transport/cargo protein		OMIM|142250;HPO|3048|Abnormal bone structure, Anemia, Autosomal dominant inheritance, Congenital onset, Cyanosis, Hepatomegaly, Methemoglobinemia, Pallor, Persistence of hemoglobin F, Splenomegaly
Choroid	ST13P5	1.302377066	9.79E-06	-		
Choroid	POLR2G	1.487935711	9.95E-06	RNA polymerase	BrainSpLMD|5436	OMIM|602013
Choroid	IQCD	1.96959705	1.01E-05	Unclassified	BrainSpLMD|115811	
Choroid	BCAP31	2.395065528	1.01E-05	Transport/cargo protein	BrainSpLMD|10134	OMIM|300398;HPO|10134|Abnormal facial shape, Abnormal pyramidal signs, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Cerebral hypomyelination, Dystonia, Failure to thrive, Global developmental delay, Intellectual disability, Intellectual disability, severe, Microcephaly, Sensorineural hearing impairment, Strabismus, Tetraplegia, X-linked recessive inheritance
Choroid	TACR3	3.621410793	1.03E-05	G protein coupled receptor	BrainSpLMD|6870;Eurexp|euxassay_018096|cortex, testis;BrainSpMouseDev|21099	OMIM|162332;HPO|6870|Abnormality of body height, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Anosmia, Anterior hypopituitarism, Anxiety, Autosomal recessive inheritance, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Depressivity, Erectile abnormalities, Eunuchoid habitus, Female hypogonadism, Gynecomastia, Hypogonadotrophic hypogonadism, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Increased female libido, Male hypogonadism, Micropenis, Microphallus, Non-obstructive azoospermia, Osteopenia, Osteoporosis, Primary amenorrhea, Reduced bone mineral density, Secondary amenorrhea, Sparse body hair, Wide intermamillary distance
Choroid	C7orf73	0.612384981	1.03E-05			
Choroid	IFT22	2.127415517	1.05E-05	GTPase	BrainSpLMD|64792	
Choroid	DYDC2	3.251490449	1.10E-05	Enzyme regulator	BrainSpLMD|84332	SFARI||Autism, 4 - Minimal evidence
Choroid	MT1X	0.771059017	1.13E-05	Transport/cargo protein	BrainSpLMD|4501	OMIM|156359
Choroid	CCDC180	1.557204188	1.15E-05		Eurexp|euxassay_014131|choroid invagination, choroid plexus, roof plate	
Choroid	NPC2	2.328459506	1.17E-05	Transport/cargo protein	BrainSpLMD|10577;Eurexp|euxassay_001964|cervical, cervico-thoracic, left lung, mantle layer, marginal layer, right lung, stomach, thoracic, trachea, ventral grey horn, ventricular layer	OMIM|601015;HPO|10577|Abnormal cholesterol homeostasis, Ataxia, Autosomal recessive inheritance, Bone-marrow foam cells, Cataplexy, Dementia, Dysarthria, Dysphagia, Dystonia, Fetal ascites, Foam cells in visceral organs and CNS, Generalized hypotonia, Global developmental delay, Hepatomegaly, Heterogeneous, Intellectual disability, Loss of speech, Low cholesterol esterification rates, Neurofibrillary tangles, Onset, Perseveration, Prolonged neonatal jaundice, Psychosis, Respiratory failure, Sea-blue histiocytosis, Seizures, Spasticity, Splenomegaly, Stereotypy, Vertical supranuclear gaze palsy
Choroid	SLC39A11	1.583173198	1.17E-05	Membrane transport protein	BrainSpLMD|201266	SFARI||Autism, No category;OMIM|616508
Choroid	SAMD11	0.714244041	1.20E-05	Unclassified	BrainSpLMD|148398	OMIM|616765
Choroid	SYPL1	1.006749962	1.21E-05	Integral membrane protein	BrainSpLMD|6856;Eurexp|euxassay_005903|embryo	OMIM|616665
Choroid	ROR2	2.738253769	1.29E-05	Receptor tyrosine kinase	BrainSpLMD|4920;BrainSpMouseDev|26311	OMIM|602337;HPO|4920|2nd-5th toe middle phalangeal hypoplasia, Abnormality of the foot, Absent fingernail, Absent uvula, Ankyloglossia, Anonychia, Anteverted nares, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the distal phalanges of the hand, Autosomal dominant inheritance, Autosomal recessive inheritance, Bifid distal phalanx of toe, Bifid tongue, Brachydactyly, Broad hallux phalanx, Broad thumb, Broad toe, Camptodactyly, Chronic otitis media, Clinodactyly, Clinodactyly of the 5th finger, Clitoral hypoplasia, Cryptorchidism, Delayed cranial suture closure, Delayed eruption of permanent teeth, Delayed skeletal maturation, Dental crowding, Depressed nasal bridge, Disproportionate short-limb short stature, Downslanted palpebral fissures, Downturned corners of mouth, Duplication of the distal phalanx of hand, Elbow dislocation, Epicanthus, Fingernail dysplasia, Flat face, Frontal bossing, Gingival overgrowth, Global developmental delay, Hearing impairment, Hemivertebrae, Hydronephrosis, Hypertelorism, Hypoplasia of penis, Hypoplastic female external genitalia, Hypoplastic labia majora, Hypoplastic sacrum, Inguinal hernia, Intellectual disability, Joint contracture of the hand, Kyphosis, Long eyelashes, Long palpebral fissure, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Malar flattening, Mesomelia, Micrognathia, Micropenis, Midface retrusion, Missing ribs, Nevus flammeus, Open bite, Pectus excavatum, Posteriorly rotated ears, Proptosis, Radial deviation of finger, Renal duplication, Rib fusion, Right ventricular outlet obstruction, Scoliosis, Short distal phalanx of finger, Short foot, Short long bone, Short metacarpal, Short middle phalanx of finger, Short middle phalanx of the 5th finger, Short nose, Short palm, Syndactyly, Tented upper lip vermilion, Thin upper lip vermilion, Thoracic hemivertebrae, Thoracolumbar scoliosis, Triangular mouth, Type B brachydactyly, Umbilical hernia, Upslanted palpebral fissure, Ventricular septal defect, Vertebral fusion, Vertebral segmentation defect, Wide anterior fontanel, Wide mouth, Wide nasal bridge
Choroid	IFT57	2.644380282	1.31E-05	Unclassified	BrainSpLMD|55081	OMIM|606621
Choroid	MT.ATP6	0.848316309	1.33E-05			
Choroid	PCBD1	2.113452833	1.37E-05	Enzyme: Dehydratase	BrainSpLMD|5092;Eurexp|euxassay_001612|calyces, cervical, cervico-thoracic, foregut-midgut junction, hindgut, lobe, lung, midgut, pancreas, pelvis, stomach, vagus X;BrainSpMouseDev|12960	OMIM|126090;HPO|5092|Autosomal recessive inheritance, Generalized hypotonia, Hyperphenylalaninemia, Hypertonia, Motor delay, Transient hyperphenylalaninemia, Tremor
Choroid	DCDC2	3.720792426	1.38E-05	Unclassified	BrainSpLMD|51473;Eurexp|euxassay_004609|calyces, choroid plexus, lateral recess, mantle layer, pancreas, renal/urinary system	OMIM|605755;HPO|51473|Autosomal recessive inheritance, Bile duct proliferation, Biliary cirrhosis, Cholestasis, Cirrhosis, Elevated hepatic transaminases, Hepatic fibrosis, Hepatomegaly, Infantile onset, Jaundice, Nephronophthisis, Portal hypertension, Progressive, Pruritus, Sclerosing cholangitis, Sensorineural hearing impairment, Splenomegaly, Stage 5 chronic kidney disease
Choroid	AC010468.1	0.704204988	1.38E-05			
Choroid	NUDT7	2.294197944	1.42E-05	Unclassified		OMIM|609231
Choroid	EFCAB11	0.611890874	1.43E-05	Calcium binding protein	BrainSpLMD|90141	
Choroid	PRDM5	1.175327992	1.44E-05	Transcription factor	BrainSpLMD|11107;BrainSpMouseDev|46620	OMIM|614161;HPO|11107|Abnormality of hair pigmentation, Autosomal recessive inheritance, Blue sclerae, Bruising susceptibility, Conductive hearing impairment, Corneal dystrophy, Corneal scarring, Gait disturbance, Hearing impairment, Hyperextensible skin, Joint hyperflexibility, Keratoconus, Keratoglobus, Myalgia, Myopia, Osteoporosis, Sensorineural hearing impairment, Severe Myopia, Soft skin, Visual loss
Choroid	SAMD15	3.885319941	1.44E-05	Unclassified		
Choroid	FTH1P7	1.785558226	1.46E-05			
Choroid	HSPD1	1.107796632	1.46E-05	Heat shock protein	BrainSpLMD|3329;BrainSpMouseDev|15285	OMIM|118190;HPO|3329|Apnea, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Choreoathetosis, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hyperreflexia, Impaired vibration sensation in the lower limbs, Intellectual disability, profound, Leukodystrophy, Lower limb muscle weakness, Lower limb spasticity, Neonatal onset, Nystagmus, Postnatal microcephaly, Progressive, Progressive spasticity, Seizures, Spastic gait, Spastic paraplegia, Strabismus, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
Choroid	ATP11C	1.460028936	1.48E-05	ATPase	BrainSpLMD|286410;Eurexp|euxassay_010318|choroid invagination, choroid plexus, roof plate	OMIM|300516
Choroid	RP11.390K5.1	0.297355259	1.50E-05			
Choroid	ZSCAN1	2.514356657	1.51E-05	Unclassified	BrainSpLMD|284312	
Choroid	B9D1	2.118451599	1.57E-05	Unclassified	BrainSpLMD|27077	OMIM|614144;HPO|27077|Abnormality of the posterior cranial fossa, Ambiguous genitalia, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Cataract, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Cleft palate, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Encephalocele, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Hypertelorism, Intellectual disability, Limb undergrowth, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Muscular hypotonia, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Postaxial foot polydactyly, Postaxial hand polydactyly, Sclerocornea, Sloping forehead, Talipes, Talipes equinovarus
Choroid	MORN2	2.322255826	1.59E-05	Unclassified	BrainSpLMD|729967	
Choroid	RPSAP54	0.686763112	1.77E-05			
Choroid	ADAMTS6	2.354611534	1.81E-05	Metallo protease	BrainSpLMD|11174	OMIM|605008
Choroid	TJP1	0.530789227	1.84E-05	Cell junction protein	BrainSpLMD|7082;Eurexp|euxassay_018809|brain, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, left lung, meninges, metanephros, right lung, spinal cord, trigeminal V	OMIM|601009
Choroid	FZD1	1.114442912	1.86E-05	G protein coupled receptor	BrainSpLMD|8321;Eurexp|euxassay_014936|diaphragm, forelimb, hindbrain, hindlimb, lung, medulla oblongata, mesenchyme, metanephros, midgut, spinal cord, stomach, thymus primordium, tongue, vertebral axis muscle system;BrainSpMouseDev|14138	OMIM|603408
Choroid	FTH1P2	1.308552508	1.93E-05			
Choroid	MAATS1	2.068794437	1.96E-05	Protease inhibitor	BrainSpLMD|89876;Eurexp|euxassay_010744|choroid invagination, choroid plexus, roof plate	OMIM|609910
Choroid	UTRN	1.229717245	1.99E-05	Anchor protein	BrainSpLMD|7402;Eurexp|euxassay_013991|bladder, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, primitive seminiferous tubules, rectum, stomach, trigeminal V, urethra	SFARI||Autism, No category;OMIM|128240
Choroid	ELN	1.136586003	2.03E-05	Extracellular matrix protein	BrainSpLMD|2006;Eurexp|euxassay_004329|aorta, exoccipital bone, extrinsic ocular muscle, femur, fibula, humerus, lip, lung, mandible, maxillary division, mesenchyme, nasal septum, orbito-sphenoid, palatal shelf, pelvic girdle, physiological umbilical hernia, rest of mesencyme, rib, scapula, skeletal muscle, tibia, trachea, turbinate bones, valve, vault of skull, ventricular layer, vibrissa	OMIM|130160;COSMIC||B-ALL, Supravalvular Aortic Stenosis, Cutis laxa, Williams-Beuren Syndrome;HPO|2006|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the face, Abnormality of the fingernails, Abnormality of the iris, Abnormality of the neck, Anxiety, Aortic regurgitation, Arrhythmia, Arthralgia, Ascending aortic dissection, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bicuspid aortic valve, Bladder diverticulum, Blepharophimosis, Blue irides, Bowel diverticulosis, Broad forehead, Broad nasal tip, Cardiomegaly, Cerebral ischemia, Chest pain, Chronic constipation, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Coronary artery disease, Coronary artery stenosis, Cutis laxa, Cutis marmorata, Cystic medial necrosis of the aorta, Dental malocclusion, Depressed nasal bridge, Depressivity, Descending aortic dissection, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Emphysema, Enuresis, Epicanthus, Everted lower lip vermilion, Exertional dyspnea, Failure to thrive in infancy, Feeding difficulties in infancy, Flexion contracture, Full cheeks, Gait imbalance, Gastroesophageal reflux, Generalized hypotonia, Genu valgum, Glucose intolerance, Hallux valgus, Heterogeneous, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypertelorism, Hypertension, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Impaired visuospatial constructive cognition, Incoordination, Inguinal hernia, Insomnia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Joint stiffness, Kyphoscoliosis, Kyphosis, Large earlobe, Left ventricular failure, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Medial flaring of the eyebrow, Microcephaly, Microdontia, Micrognathia, Midface retrusion, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Narrow forehead, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Obsessive-compulsive trait, Open bite, Open mouth, Osteopenia, Osteoporosis, Overfriendliness, Paroxysmal dyspnea, Pelvic kidney, Periorbital edema, Periorbital fullness, Peripheral arterial stenosis, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Poor coordination, Premature graying of hair, Premature skin wrinkling, Prematurely aged appearance, Proteinuria, Protruding ear, Pulmonary artery stenosis, Pulmonic stenosis, Rectal prolapse, Recurrent otitis media, Recurrent urinary tract infections, Redundant skin, Renal hypoplasia, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Small nail, Soft skin, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Urethral stenosis, Vesicoureteral reflux, Visual impairment, Wide mouth, Wide nasal bridge
Choroid	RP11.473M20.11	1.70788504	2.12E-05			
Choroid	ATG9B	3.739494116	2.20E-05	Unclassified	BrainSpLMD|285973	OMIM|612205
Choroid	SLC13A4	3.76763059	2.27E-05	Membrane transport protein	BrainSpLMD|26266;Eurexp|euxassay_019711|choroid plexus, lung, urethra	OMIM|604309
Choroid	PEG3	1.769262751	2.27E-05	Transcription factor	BrainSpLMD|5178	OMIM|601483
Choroid	SERPINI2	2.634992621	2.37E-05	Protease inhibitor	BrainSpLMD|5276	OMIM|605587
Choroid	TCF7L1	0.770595107	2.41E-05	Transcription regulatory protein	BrainSpLMD|83439;BrainSpMouseDev|21176	OMIM|604652
Choroid	ABCA4	3.813319153	2.42E-05	ATPase	BrainSpLMD|24	OMIM|601691;HPO|24|Abnormal electroretinogram, Abnormality of color vision, Abnormality of macular pigmentation, Abnormality of retinal pigmentation, Abnormality of the choroid, Abnormality of the fovea, Abnormality of the retinal vasculature, Abnormality of the testis, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the macula, Attenuation of retinal blood vessels, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Central scotoma, Conductive hearing impairment, Cone/cone-rod dystrophy, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Macular degeneration, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Paroxysmal involuntary eye movements, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Retinal thinning, Retinitis pigmentosa inversa, Rod-cone dystrophy, Sensorineural hearing impairment, Visual impairment, Visual loss, Wide nasal bridge, Yellow/white lesions of the macula
Choroid	RPL8	1.413197774	2.45E-05	Ribosomal subunit	BrainSpLMD|6132;Eurexp|euxassay_006230|left, right	OMIM|604177
Choroid	WLS	1.961949593	2.53E-05	Integral membrane protein	BrainSpLMD|79971	OMIM|611514
Choroid	HMGN3	0.407123365	2.54E-05	DNA binding protein	BrainSpLMD|9324;Eurexp|euxassay_010528|lens, olfactory;BrainSpMouseDev|60980	OMIM|604502
Choroid	SLC16A12	2.478364326	2.63E-05	Transport/cargo protein	BrainSpLMD|387700;Eurexp|euxassay_019699|4th ventricle, choroid plexus, endocardial tissue, liver, lung, metanephros, oesophagus, olfactory, pancreas	OMIM|611910;HPO|387700|Autosomal dominant inheritance, Cataract, Glycosuria, Microcornea
Choroid	MAL2	2.327057116	2.69E-05	Transport/cargo protein	BrainSpLMD|114569;Eurexp|euxassay_007855|calyces, fundus region, left lung, olfactory, rectum, right lung, stomach, submandibular gland primordium, thyroid, trachea, urethra	OMIM|609684
Choroid	HSPD1P1	0.936928392	2.77E-05			
Choroid	UBXN10	3.017164563	2.79E-05	Unclassified	BrainSpLMD|127733;Eurexp|euxassay_014360|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, radius, rib, scapula, tibia, turbinate bones	OMIM|616783
Choroid	CDK14	0.607546772	2.82E-05	Serine/threonine kinase	BrainSpLMD|5218;Eurexp|euxassay_007197|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, oesophagus, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|610679
Choroid	COL9A2	0.300577879	2.92E-05	Extracellular matrix protein	BrainSpLMD|1298;Eurexp|euxassay_000512|axial skeleton, cervical region, cranium, lumbar region, mesenchyme, otic capsule, pectoral girdle and thoracic body wall, rib, sacral region, thoracic region, turbinate bones	OMIM|120260;HPO|1298|Abnormality of epiphysis morphology, Amblyopia, Arthralgia, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Childhood onset, Cleft palate, Epiphyseal dysplasia, Flat face, Flattened epiphysis, Gait disturbance, Genu valgum, Genu varum, Heterogeneous, Hip dysplasia, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Knee osteoarthritis, Limitation of joint mobility, Malar flattening, Micrognathia, Micromelia, Mild short stature, Myopia, Osteoarthritis, Platyspondyly, Retinal detachment, Sensorineural hearing impairment, Severe Myopia, Short palm, Short stature, Small epiphyses, Vitreoretinal degeneration, Waddling gait
Choroid	C11orf74	2.144564735	2.99E-05	Unclassified	BrainSpLMD|119710	
Choroid	FAM229B	1.668628542	3.05E-05	Unclassified		
Choroid	TPT1	0.942489504	3.11E-05	Calcium binding protein	BrainSpLMD|7178	OMIM|600763
Choroid	RPL7P23	1.030943179	3.15E-05			
Choroid	TMEM109	3.41899817	3.16E-05	Unclassified	BrainSpLMD|79073	
Choroid	IQCK	2.508611951	3.40E-05	Unclassified	BrainSpLMD|124152	
Choroid	LAMC1	2.533355905	3.45E-05	Extracellular matrix protein	BrainSpLMD|3915	OMIM|150290
Choroid	COL4A6	2.715355644	3.69E-05	Extracellular matrix protein	BrainSpLMD|1288;Eurexp|euxassay_009999|associated mesenchyme, basioccipital bone, clavicle, femur, fibula, humerus, lens, mandible, maxilla, meninges, nasal septum, orbito-sphenoid, otic capsule, petrous part, phalanx, renal/urinary system, rib, submandibular gland primordium, tibia, trunk mesenchyme, turbinate bones, vault of skull	OMIM|303631;HPO|1288|Cochlear malformation, Hearing impairment, X-linked recessive inheritance
Choroid	DYNLL1	1.050072389	3.72E-05	Motor protein	BrainSpLMD|8655	OMIM|601562
Choroid	RP11.572P18.1	1.033622128	3.80E-05			
Choroid	TMEM209	1.004216142	3.81E-05	Integral membrane protein	BrainSpLMD|84928;Eurexp|euxassay_004682|ventricular layer	
Choroid	ST13P18	0.787281669	3.86E-05			
Choroid	RABL2A	1.720480499	3.91E-05	GTPase		OMIM|605412
Choroid	ATP2B3	3.464665047	3.95E-05	Transport/cargo protein;ATPase	BrainSpLMD|492	OMIM|300014;COSMIC||adrenal aldosterone producing adenoma
Choroid	MSRB3	0.290703178	3.97E-05	Enzyme: Reductase	BrainSpLMD|253827;Eurexp|euxassay_000090|Meckel's cartilage, axial skeleton, bladder, chondrocranium, clavicle, cochlea, dorsal root ganglion, facial bones primordia, fibula, frontal bone primordium, heart, hindlimb, hip, hyoid bone, inner ear, labyrinth, leg, lower jaw, lower leg, lung, mandible, maxilla, mesenchyme, nucleus pulposus, otic capsule, palatal shelf, pelvic girdle, premaxilla, primary palate, rib, sacral region, scapula, shoulder, skeleton, submandibular gland primordium, tibia, trigeminal V, turbinate, turbinate bones, upper jaw, valve, vault of skull, ventricle, vertebra, vestibular component	OMIM|613719;HPO|253827|Autosomal recessive inheritance, Hearing impairment
Choroid	PDGFC	0.674197956	4.02E-05	Growth factor	BrainSpLMD|56034;Eurexp|euxassay_003799|choroid plexus, cochlea, cochlear duct, cortex, epithelium, fundus region, gland, head mesenchyme, hindgut, left lung, loop, marginal layer, mesenchyme, midgut, naris, oesophagus, olfactory, penis, pharyngo-tympanic tube, rectum, respiratory, right lung, skeletal muscle, stomach, submandibular gland primordium, tongue, urethra, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|33926	OMIM|608452
Choroid	ANAPC16	1.300752014	4.08E-05	Unclassified	BrainSpLMD|119504	OMIM|613427
Choroid	PNPLA4	1.826642754	4.20E-05	Unclassified	BrainSpLMD|8228	OMIM|300102
Choroid	RAB3B	0.557899923	4.29E-05	GTPase	BrainSpLMD|5865;BrainSpMouseDev|45749	OMIM|179510
Choroid	EPHX2	4.037394015	4.35E-05	Enzyme: Hydrolase	BrainSpLMD|2053;Eurexp|euxassay_007741|liver	OMIM|132811
Choroid	RSPH10B	3.422707849	4.41E-05	Unclassified	BrainSpLMD|222967	
Choroid	NDUFB8	0.277388614	4.41E-05	Enzyme: Oxidoreductase	BrainSpLMD|4714	OMIM|602140
Choroid	TMEM14C	1.742938723	4.52E-05	Integral membrane protein	BrainSpLMD|51522;Eurexp|euxassay_000161|basal plate, biceps, brachialis, cerebral cortex, deltoid, dorsal root ganglion, erector spinae, external oblique, facial VII, floorplate, genioglossus, glossopharyngeal IX, gluteus maximus, hamstring, hyoglossus, ilio-psoas, infraspinatus, inner ear, intrinsic, labyrinth, lateral wall, latissimus dorsi, mantle layer, marginal layer, masseter, midbrain, middle ear, myelohyoid, naso-lacrimal duct, neural retina, otic capsule, palatoglossus, pectoralis major, pectoralis minor, quadratus lumborum, quadriceps, rectus abdominis, retina, roof plate, serratus anterior, skeletal muscle, spinal cord, styloglossus, sublingual gland primordium, submandibular gland primordium, subscapularis, supraspinatus, tegmentum, telencephalon, teres major, thymus primordium, transverse component, transversus abdominis, trapezius, triceps, trigeminal V, vagus X, ventricular layer, vertical component, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|615318
Choroid	DTNA	0.544006232	4.53E-05	Unclassified	BrainSpLMD|1837;Eurexp|euxassay_010455|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|601239;HPO|1837|Atrial fibrillation, Autosomal dominant inheritance, Congestive heart failure, Hypoplastic left heart, Left ventricular hypertrophy, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Patent ductus arteriosus, Sudden cardiac death, Ventricular arrhythmia, Ventricular septal defect
Choroid	CACHD1	1.486734553	4.89E-05	Voltage gated channel	BrainSpLMD|57685;Eurexp|euxassay_006310|incisor, lung, mantle layer, molar, naris, penis, ventricular layer	
Choroid	EXPH5	2.169069412	4.94E-05	Unclassified	BrainSpLMD|23086	OMIM|612878;HPO|23086|Autosomal recessive inheritance, Epidermal acanthosis, Fragile skin, Hyperkeratosis
Choroid	ID1	2.146714762	4.95E-05	Transcription regulatory protein	BrainSpLMD|3397;BrainSpMouseDev|15674	OMIM|600349
Choroid	IGFBP6	0.976001073	5.00E-05	Adhesion molecule	BrainSpLMD|3489;BrainSpMouseDev|15785	OMIM|146735
Choroid	ABHD14A	2.336342411	5.07E-05	Enzyme: Hydrolase	BrainSpLMD|25864	
Choroid	EEF1A1P11	0.70652292	5.35E-05			
Choroid	NECAB2	1.933245168	5.40E-05	Unclassified	BrainSpLMD|54550;Eurexp|euxassay_008081|mantle layer, trigeminal V;BrainSpMouseDev|78444	
Choroid	CDK2AP2	3.40580173	5.59E-05	Unclassified	BrainSpLMD|10263	
Choroid	DNAH6	3.489589012	5.60E-05	Unclassified	BrainSpLMD|1768;Eurexp|euxassay_011366|choroid invagination, choroid plexus, roof plate	OMIM|603336
Choroid	MT2A	1.070999986	5.74E-05	Unclassified	Eurexp|euxassay_004529|left, oesophagus, pancreas, pharyngo-tympanic tube, right, stomach, submandibular gland primordium, thyroid, vibrissa	OMIM|156360
Choroid	DYNLL1.AS1	2.057507732	5.89E-05			
Choroid	NEDD8	1.41982119	5.97E-05	Ubiquitin proteasome system protein	BrainSpLMD|4738	OMIM|603171
Choroid	DNAH3	1.622331243	5.98E-05	Motor protein	BrainSpLMD|55567	SFARI||Autism, 4 - Minimal evidence;OMIM|603334
Choroid	EFCAB12	4.383369555	6.03E-05	Unclassified	BrainSpLMD|90288;Eurexp|euxassay_006210|choroid plexus, lateral recess, olfactory	
Choroid	NDUFA4	0.989272248	6.09E-05	Enzyme: Oxidoreductase	BrainSpLMD|4697;Eurexp|euxassay_003412|adenohypophysis, adrenal gland, bladder, brain, dorsal root ganglion, facial VII, glossopharyngeal IX, heart, incisor, liver, lung, metanephros, midgut, molar, neural retina, olfactory, orbito-sphenoid, pancreas, respiratory, segmental spinal nerve, spinal cord, stomach, stroma, submandibular gland primordium, thymus primordium, tongue, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|603833
Choroid	MT.CYB	0.98290095	6.41E-05			
Choroid	AC004453.8	0.576337212	6.61E-05			
Choroid	AC000367.1	0.928171617	6.66E-05			
Choroid	RPL13AP25	0.760084043	6.73E-05			
Choroid	SERINC5	1.12356747	6.74E-05	Unclassified	BrainSpLMD|256987;Eurexp|euxassay_011506|anterior, clavicle, floor plate, floorplate, incisor, mantle layer, marginal layer, molar, phalanx, thyroid, ventricular layer, vibrissa	OMIM|614551
Choroid	GLB1L	2.708414104	6.83E-05	Unclassified	BrainSpLMD|79411	
Choroid	SH3D19	1.197921482	6.98E-05	Unclassified	Eurexp|euxassay_012615|choroid plexus, hindgut, metanephros, midgut, olfactory, stomach	OMIM|608674
Choroid	CD59	1.84598817	7.44E-05	Cell surface receptor	BrainSpLMD|966;Eurexp|euxassay_012059|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, brain, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, orbito-sphenoid, pelvic girdle, rib, scapula, spinal cord, temporal bone, tibia, trigeminal V, turbinate, vagus X, vestibulocochlear VIII;BrainSpMouseDev|12294	OMIM|107271;HPO|966|Areflexia, Autosomal recessive inheritance, Generalized hypotonia, Hemolytic anemia, Increased CSF protein, Infantile onset, Limb muscle weakness, Paroxysmal nocturnal hemoglobinuria, Skeletal muscle atrophy
Choroid	EMC2	1.817670935	7.51E-05	Unclassified	BrainSpLMD|9694	OMIM|607722
Choroid	FLNB	2.408026922	7.68E-05	Cytoskeletal associated protein	BrainSpLMD|2317;Eurexp|euxassay_014002|axial skeleton, clavicle, exoccipital bone, incisor, mandible, maxilla, mesenchyme, metatarsus, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, palatal shelf, phalanx, sternum, submandibular gland primordium, temporal bone, thymus primordium, thyroid, trachea, turbinate, ventricular layer, vibrissa	OMIM|603381;HPO|2317|11 pairs of ribs, Abnormality of femur morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the humerus, Abnormality of the metacarpal bones, Abnormality of the radius, Abnormality of tibia morphology, Absent radius, Accessory carpal bones, Aortic dilatation, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the ulna, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Beaking of vertebral bodies, Bipartite calcaneus, Block vertebrae, Brachydactyly, Broad distal phalanx of finger, Broad face, Broad nasal tip, Broad thumb, Bronchomalacia, C2-C3 subluxation, Carpal synostosis, Cataract, Cervical kyphosis, Cervical segmentation defect, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Club-shaped proximal femur, Clubbing, Conductive hearing impairment, Corneal opacity, Coronal cleft vertebrae, Cryptorchidism, Delayed skeletal maturation, Depressed nasal bridge, Dislocated wrist, Disproportionate short-trunk short stature, Distal tapering femur, Elbow dislocation, Encephalocele, Epiphyseal dysplasia, Fibular aplasia, Finger syndactyly, Flat acetabular roof, Flat face, Frontal bossing, Fused cervical vertebrae, Growth hormone deficiency, Hip dislocation, Hitchhiker thumb, Horizontal sacrum, Hydrops fetalis, Hyperlordosis, Hypertelorism, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Hypoplastic cervical vertebrae, Hypoplastic iliac body, Hypoplastic nasal septum, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Knee dislocation, Large joint dislocations, Laryngeal stenosis, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Mixed hearing impairment, Multinucleated giant chondrocytes in epiphyseal cartilage, Multiple carpal ossification centers, Narrow chest, Neonatal death, Omphalocele, Pectus carinatum, Pectus excavatum, Pes planus, Polyhydramnios, Poorly ossified vertebrae, Preauricular skin tag, Premature birth, Prominent forehead, Prominent occiput, Proptosis, Radial bowing, Rarefaction of retinal pigmentation, Renal cyst, Restrictive ventilatory defect, Rhizomelia, Sandal gap, Scoliosis, Severe short stature, Severe short-limb dwarfism, Shallow orbits, Short distal phalanx of finger, Short femur, Short humerus, Short metacarpal, Short metatarsal, Short nail, Short neck, Short nose, Short stature, Spatulate thumbs, Spina bifida occulta, Spinal cord compression, Spondylolysis, Sporadic, Stillbirth, Talipes equinovalgus, Talipes equinovarus, Tarsal synostosis, Thoracic platyspondyly, Tibial bowing, Tombstone-shaped proximal phalanges, Tracheal stenosis, Tracheomalacia, Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Widened distal phalanges
Choroid	TMEM254	2.023967901	7.74E-05	Integral membrane protein	BrainSpLMD|80195;Eurexp|euxassay_010761|bladder, choroid plexus, dorsal root ganglion, ear, floor plate, floorplate, incisor, lung, metanephros, midgut, molar, oesophagus, olfactory, pancreas, stomach, submandibular gland primordium, thymus primordium, thyroid, urethra, vibrissa	
Choroid	GALNT11	1.936786444	7.75E-05	Enzyme: Galactosyltransferase	BrainSpLMD|63917	OMIM|615130
Choroid	BTBD3	0.753068527	7.96E-05	Unclassified	BrainSpLMD|22903;Eurexp|euxassay_006662|adenohypophysis, anterior, axial skeleton, cartilaginous ring, cervical, cervico-thoracic, clavicle, diaphragm, epithelium, glossopharyngeal IX, lip, mantle layer, marginal layer, mesenchyme, oral epithelium, pectoralis major, pectoralis minor, phalanx, posterior, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|615566
Choroid	PTPRG.AS1	0.855498332	7.98E-05			
Choroid	MAP7	3.372615396	8.00E-05	Cytoskeletal associated protein	BrainSpLMD|9053;Eurexp|euxassay_010014|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	OMIM|604108
Choroid	PRDX6	1.655416375	8.07E-05	Enzyme: Peroxidase	BrainSpLMD|9588;Eurexp|euxassay_018727|floor plate, floorplate, hepatic duct, left lung, liver, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, olfactory, pancreas, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|602316
Choroid	RPLP1	1.161479029	8.11E-05	Ribosomal subunit		OMIM|180520
Choroid	RSPH10B2	1.570494186	8.32E-05			
Choroid	MT.ND4	0.994858853	8.32E-05			
Choroid	CEP83	0.556096428	8.43E-05	Unclassified	BrainSpLMD|51134;Eurexp|euxassay_005968|brain, cervical, cervico-thoracic, cochlea, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, lip, olfactory, oral epithelium, oral region, palatal shelf, spinal cord, submandibular gland primordium, thoracic, thymus primordium, tongue, trigeminal V, utricle, vagus X, vestibulocochlear VIII	OMIM|615847;HPO|51134|Autosomal recessive inheritance, Nephronophthisis, Stage 5 chronic kidney disease, Thickening of the glomerular basement membrane, Tubular atrophy, Tubulointerstitial nephritis
Choroid	COMT	2.435960601	8.53E-05	Enzyme: Acyltransferase	BrainSpLMD|1312;Eurexp|euxassay_018193|basal columns, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, mantle layer, thymus primordium, trigeminal V, vagus X;BrainSpMouseDev|12629	OMIM|116790;HPO|1312|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
Choroid	TUBB4B	2.165323214	8.65E-05	Structural protein	BrainSpLMD|10383	OMIM|602660
Choroid	EEF1B2P3	0.296369738	8.76E-05			
Choroid	AAGAB	1.771665921	9.24E-05	Unclassified	BrainSpLMD|79719;Eurexp|euxassay_012478|dorsal root ganglion, ventricular layer	OMIM|614888;HPO|79719|Abnormality of the skin, Autosomal dominant inheritance, Breast carcinoma, Colon cancer, Heterogeneous, Hodgkin lymphoma, Late onset, Neoplasm of the pancreas, Palmoplantar keratoderma, Renal cell carcinoma, Transitional cell carcinoma of the bladder
Choroid	FTH1	1.653906869	9.30E-05	Storage protein	BrainSpLMD|2495	OMIM|134770;HPO|2495|Autosomal dominant inheritance, Increased serum ferritin
Choroid	SERPINB1	2.340350326	9.46E-05	Protease inhibitor	BrainSpLMD|1992;Eurexp|euxassay_014473|3rd ventricle, 4th ventricle, choroid plexus, dermis, diencephalon, dorsal grey horn, epithalamus, foregut-midgut junction, hindgut, incisor, liver, lobe, loop, mantle layer, meninges, mesenchyme, midgut, naris, nervous system, pancreas, rectum, thymus primordium, tongue, ventricular layer, wall;BrainSpMouseDev|42065	OMIM|130135
Choroid	CSTB	0.952127302	9.58E-05	Protease inhibitor	BrainSpLMD|1476;Eurexp|euxassay_009738|bladder, mandible, maxilla, stomach, thymus primordium	OMIM|601145;HPO|1476|Absence seizures, Ataxia, Autosomal recessive inheritance, Dysarthria, EEG with polyspike wave complexes, Generalized tonic-clonic seizures, Intention tremor, Limb ataxia, Mental deterioration, Morning myoclonic jerks, Myoclonus
Choroid	PPIC	0.479897193	9.76E-05	Chaperone	BrainSpLMD|5480	OMIM|123842
Choroid	EFEMP1	3.091288298	0.000100745	Extracellular matrix protein	BrainSpLMD|2202;Eurexp|euxassay_008783|mesenchyme, vibrissa;BrainSpMouseDev|85011	OMIM|601548;HPO|2202|Autosomal dominant inheritance, Reticular pigmentary degeneration, Retinal dystrophy, Visual impairment
Choroid	POLR2I	1.475972465	0.000100871	RNA polymerase	BrainSpLMD|5438	OMIM|180662
Choroid	ATPIF1	0.799767244	0.00010102			
Choroid	PRADC1	3.30298891	0.000101524	Protease	BrainSpLMD|84279;Eurexp|euxassay_007575|submandibular gland primordium, thymus primordium	
Choroid	RP11.113C12.4	2.692034205	0.000101738			
Choroid	RBMS1	1.801659654	0.000104339	DNA binding protein	BrainSpLMD|5937	OMIM|602310
Choroid	LZTFL1	1.623097167	0.000105433	Unclassified	BrainSpLMD|54585	OMIM|606568;HPO|54585|Abnormal electroretinogram, Autosomal recessive inheritance, Brachydactyly, Cognitive impairment, Cone/cone-rod dystrophy, External genital hypoplasia, Global developmental delay, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Mesoaxial polydactyly, Multicystic kidney dysplasia, Nystagmus, Obesity, Pigmentary retinopathy, Postaxial hand polydactyly, Renal cyst, Retinal degeneration, Short stature, Stage 5 chronic kidney disease
Choroid	MRPS33	1.297211396	0.000107497	Ribosomal subunit	BrainSpLMD|51650	OMIM|611993
Choroid	NDUFS8	2.070980496	0.000107503	Enzyme: Oxidoreductase	BrainSpLMD|4728	OMIM|602141;HPO|4728|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
Choroid	RPS3AP34	2.182510836	0.000109438			
Choroid	IFITM2	2.553230366	0.000109931	Integral membrane protein	BrainSpLMD|10581;Eurexp|euxassay_003572|mantle layer, thymus primordium	OMIM|605578
Choroid	SLC6A20	1.981474012	0.000110029	Membrane transport protein	BrainSpLMD|54716;Eurexp|euxassay_004446|meninges	OMIM|605616;HPO|54716|Abnormality of the eye, Autosomal dominant inheritance, Autosomal recessive inheritance, Calcium oxalate nephrolithiasis, Hydroxyprolinuria, Hyperglycinuria, Intellectual disability, Prolinuria
Choroid	NR2F2.AS1	1.054317625	0.000113471			
Choroid	SLC4A10	1.658108452	0.000114676	Membrane transport protein	BrainSpLMD|57282;Eurexp|euxassay_019732|choroid plexus, olfactory lobe	SFARI||Autism, 4 - Minimal evidence;OMIM|605556
Choroid	DZIP3	1.839903225	0.000117393	Ubiquitin proteasome system protein	BrainSpLMD|9666	OMIM|608672
Choroid	TMED4	0.731154889	0.000118167	Integral membrane protein	BrainSpLMD|222068	OMIM|612038
Choroid	MT.CO1	0.759854486	0.000119902			
Choroid	GALNT12	2.318701194	0.000120388	Enzyme: Galactosyltransferase	BrainSpLMD|79695;Eurexp|euxassay_005150|hindgut, midgut, rectum, roof plate, stomach, submandibular gland primordium, tail, thymus primordium, thyroid, ventricular layer	OMIM|610290
Choroid	PRKCSH	0.612338936	0.000123234	Regulatory/other subunit	BrainSpLMD|5589	OMIM|177060;HPO|5589|Abdominal distention, Abnormality of the cardiovascular system, Abnormality of the nervous system, Ascites, Autosomal dominant inheritance, Back pain, Hepatomegaly, Increased total bilirubin, Multiple renal cysts, Polycystic liver disease, Renal cyst
Choroid	ZNF106	0.717467249	0.000123951	DNA binding protein	BrainSpLMD|64397;Eurexp|euxassay_010261|skeletal muscle, vertebral axis muscle system	
Choroid	GTF2E1	1.211057795	0.000124254	Transcription factor	BrainSpLMD|2960	OMIM|189962
Choroid	RIBC1	4.118388473	0.000124678	Unclassified	BrainSpLMD|158787	
Choroid	GALNT18	3.615739113	0.000124793	Unclassified	BrainSpLMD|374378;Eurexp|euxassay_001578|axial skeleton, basisphenoid bone, foregut-midgut junction, hindgut, limb, midgut, oesophagus, olfactory, oral epithelium, otic capsule, pharyngo-tympanic tube, stomach, trigeminal V, turbinate	OMIM|615136
Choroid	COMMD8	1.017920833	0.000124929	Unclassified	BrainSpLMD|54951	OMIM|616656
Choroid	DHRS4L2	1.756656608	0.000125417	Unclassified		OMIM|615196
Choroid	MRPS6	1.57789878	0.000127353	Ribosomal subunit	BrainSpLMD|64968;Eurexp|euxassay_000228|choroid plexus, metencephalon, telencephalon	OMIM|611973
Choroid	CADPS2	1.106436236	0.000127519	Calcium binding protein	BrainSpLMD|93664;Eurexp|euxassay_011972|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, mantle layer, marginal layer, naris, nasal septum, olfactory, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, radius, rib, scapula, tibia, turbinate bones, ulna, vault of skull;BrainSpMouseDev|107340	SFARI||Autism, 4 - Minimal evidence;OMIM|609978
Choroid	MSI2	0.909987716	0.00012909	RNA binding protein	BrainSpLMD|124540	OMIM|607897;COSMIC||CML
Choroid	ARHGAP18	1.427323242	0.000129308	GTPase activating protein	BrainSpLMD|93663	OMIM|613351
Choroid	COLGALT1	1.091103169	0.000131494	Unclassified	BrainSpLMD|79709	OMIM|617531
Choroid	C11orf31	1.645964855	0.000132424			
Choroid	AHI1	1.524113429	0.000133011	Adapter molecule	BrainSpLMD|54806;Eurexp|euxassay_005590|brain, cervical, cervico-thoracic, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V;BrainSpMouseDev|32386	SFARI||Autism, No category;OMIM|608894;HPO|54806|Abnormal electroretinogram, Anteverted nares, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Central apnea, Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Enlarged fossa interpeduncularis, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Heterogeneous, Highly arched eyebrow, Intellectual disability, Long face, Low-set ears, Molar tooth sign on MRI, Motor delay, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nystagmus, Oculomotor apraxia, Open mouth, Pigmentary retinopathy, Ptosis, Retinal dystrophy, Stage 5 chronic kidney disease, Visual impairment, Wide nasal bridge
Choroid	MRPL14	2.066327987	0.000137666	Ribosomal subunit	BrainSpLMD|64928	OMIM|611827
Choroid	USP2.AS1	1.920287121	0.00013965			
Choroid	PDLIM5	1.250873624	0.000143347	Adapter molecule	BrainSpLMD|10611;Eurexp|euxassay_011640|alar columns, axial skeleton, bladder, choroid plexus, clavicle, dorsal grey horn, floor plate, floorplate, mesenchyme, metanephros, midgut, oesophagus, stomach, submandibular gland primordium, trachea, urethra, ventral grey horn, ventricular layer	OMIM|605904
Choroid	TOM1L1	1.380139054	0.000147584	Adapter molecule	BrainSpLMD|10040;Eurexp|euxassay_011406|adrenal gland, dorsal root ganglion, lung, mantle layer, naris, olfactory, submandibular gland primordium, trigeminal V, vibrissa, vomeronasal organ	OMIM|604701
Choroid	MRPL33	0.416568373	0.000148879	Ribosomal subunit	BrainSpLMD|9553	OMIM|610059
Choroid	EPHX1	1.282254601	0.000148935	Enzyme: Hydrolase	BrainSpLMD|2052;Eurexp|euxassay_002751|4th ventricle, axial skeleton, choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, inferior, lateral recess, olfactory, respiratory, submandibular gland primordium, superior, trigeminal V, vagus X	OMIM|132810;HPO|2052|Autosomal recessive inheritance, Failure to thrive, Increased serum bile acid concentration, Pruritus, Rickets, Steatorrhea, Vitamin K deficiency
Choroid	RP11.592N21.1	0.659849486	0.000149452			
Choroid	RGS5	0.686200316	0.000150751	GTPase activating protein	BrainSpLMD|8490;Eurexp|euxassay_005268|aorta, brain, ductus deferens, hindgut, lung, mesenchyme, metanephros, midgut, molar, olfactory, palatal shelf, pericardium, stomach, thymus primordium	OMIM|603276
Choroid	RPSAP58	1.248993959	0.0001516		BrainSpLMD|388524	
Choroid	ST13P6	0.402419459	0.000154065			
Choroid	SEMA5A	0.41404915	0.000157632	Unclassified	BrainSpLMD|9037;BrainSpMouseDev|20119	SFARI||Autism, 3 - Suggestive evidence;OMIM|609297;HPO|9037|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
Choroid	S100A10	1.706626827	0.000164175	Calcium binding protein	BrainSpLMD|6281;Eurexp|euxassay_018301|bladder, cranium, diaphragm, dorsal root ganglion, epidermis, facial VII, glossopharyngeal IX, incisor, lip, mandible, mantle layer, meninges, metanephros, midgut, molar, neural retina, oesophagus, palatal shelf, pectoral girdle and thoracic body wall, rib, roof plate, stomach, submandibular gland primordium, thymus primordium, trigeminal V, turbinate bones, vagus X, ventral grey horn, vertebral axis muscle system, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|19957	OMIM|114085
Choroid	C15orf26	3.867420612	0.000164427			
Choroid	MINOS1	0.623950378	0.000166228	Unclassified		OMIM|616574
Choroid	SLC5A3	2.215411199	0.000167114	Transport/cargo protein	BrainSpLMD|6526;Eurexp|euxassay_019742|axial muscle, cervical region, choroid plexus, extrinsic ocular muscle, nasal septum, pelvic girdle, rectum, turbinate bones, ventricular layer	OMIM|600444
Choroid	BDH2	1.795635829	0.000167981	Enzyme: Oxidoreductase	BrainSpLMD|56898	
Choroid	GNG5P2	0.276831469	0.000172016			
Choroid	SLC16A6	1.068511586	0.000173481	Membrane transport protein	BrainSpLMD|9120;Eurexp|euxassay_002932|calyces, choroid plexus, lateral recess, lobe, vibrissa	OMIM|603880
Choroid	RASGEF1B	0.724702048	0.000182937	Guanine nucleotide exchange factor	BrainSpLMD|153020;Eurexp|euxassay_003547|basal plate, mantle layer, marginal layer, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|614532
Choroid	NTPCR	1.956257816	0.00018361	ATPase	BrainSpLMD|84284	
Choroid	CCDC74A	3.193451379	0.000183785	Unclassified		
Choroid	C9orf9	2.985770632	0.000184654			
Choroid	IFT122	1.750583895	0.00018484	Unclassified	BrainSpLMD|55764;Eurexp|euxassay_011142|choroid plexus, dorsal root ganglion, metanephros, olfactory, pituitary, testis	OMIM|606045;HPO|55764|Abnormal diaphysis morphology, Abnormal toenail morphology, Abnormality of the abdominal wall, Abnormality of the fingernails, Abnormality of the metaphysis, Anodontia, Anteverted nares, Autosomal recessive inheritance, Bicuspid aortic valve, Brachydactyly, Broad distal phalanges of all fingers, Broad toe, Chronic kidney disease, Clinodactyly, Craniosynostosis, Dolichocephaly, Ectodermal dysplasia, Epicanthus, Everted lower lip vermilion, Fibular hypoplasia, Fine hair, Finger syndactyly, Flattened epiphysis, Frontal bossing, Full cheeks, Hepatic cysts, Hepatic failure, Hepatic fibrosis, Hepatomegaly, High, narrow palate, Hypocalcemia, Hypodontia, Hypoplasia of dental enamel, Hypotelorism, Joint hyperflexibility, Joint laxity, Malformation of the hepatic ductal plate, Microdontia, Myopia, Narrow chest, Nystagmus, Osteoporosis, Pectus excavatum, Prominent occiput, Protuberant abdomen, Radial deviation of finger, Renal magnesium wasting, Retinal dystrophy, Rhizomelia, Sagittal craniosynostosis, Scaphocephaly, Short distal phalanx of finger, Short humerus, Short nail, Short ribs, Short toe, Single transverse palmar crease, Slow-growing hair, Sparse hair, Telecanthus, Thin nail, Tubulointerstitial nephritis, Wide nasal bridge, Widely spaced teeth
Choroid	ILDR2	2.261301606	0.000186441	Immunoglobulin	BrainSpLMD|387597	
Choroid	LINC00982	0.485430097	0.000197733		BrainSpLMD|440556	
Choroid	DYNC2H1	1.27799135	0.000198997	Motor protein	Eurexp|euxassay_014017|olfactory, ventricular layer	OMIM|603297;HPO|79659|Abdominal distention, Abnormal pelvis bone ossification, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Brachydactyly, Cleft upper lip, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypoplasia of penis, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Narrow chest, Postaxial hand polydactyly, Renal hypoplasia, Respiratory insufficiency, Short foot, Short palm, Short ribs, Short thorax, Skeletal dysplasia, Urethrovaginal fistula, Uterus didelphys, Wide nose
Choroid	MT.CO3	0.648557037	0.00020055			
Choroid	RP11.613M5.2	0.825538549	0.000201389			
Choroid	PSME2P2	0.93500876	0.000207112			
Choroid	IARS2	1.500910661	0.00020729	-	BrainSpLMD|55699;Eurexp|euxassay_005121|embryo	OMIM|612801;HPO|55699|Achalasia, Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Cataract, Cervical spinal canal stenosis, Congenital cataract, Congenital hip dislocation, Depressed nasal bridge, Distal sensory impairment, Fasting hypoglycemia, Flexion contracture, Genu valgum, Growth hormone deficiency, Hip dislocation, Hyporeflexia, Long philtrum, Motor delay, Narrow mouth, Nystagmus, Osteopenia, Periarticular subcutaneous nodules, Peripheral neuropathy, Prelingual sensorineural hearing impairment, Progressive sensorineural hearing impairment, Prominent forehead, Scoliosis, Sensorimotor neuropathy, Sensorineural hearing impairment, Sensory neuropathy, Short stature, Spinal canal stenosis, Spondyloepiphyseal dysplasia, Thick eyebrow, Thoracic kyphoscoliosis
Choroid	NUCB1	1.79721325	0.000209094	Calcium binding protein		OMIM|601323
Choroid	GPX4	1.703733209	0.000211422	Enzyme: Peroxidase	BrainSpLMD|2879	OMIM|138322;HPO|2879|11 pairs of ribs, Abnormality of the ribs, Abnormality of the scapula, Arrhythmia, Atrial septal defect, Atrioventricular block, Autosomal recessive inheritance, Brachydactyly, Cardiorespiratory arrest, Cerebellar hypoplasia, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped metacarpal epiphyses, Cupped ribs, Delayed epiphyseal ossification, Delayed skeletal maturation, Depressed nasal bridge, Flared iliac wings, Flat acetabular roof, Focal lissencephaly, Generalized hypotonia, Iliac crest serration, Irregular tarsal bones, Large posterior fontanelle, Long fibula, Metaphyseal chondrodysplasia, Metaphyseal cupping, Metaphyseal irregularity, Muscular hypotonia, Narrow chest, Narrow greater sacrosciatic notches, Platyspondyly, Porencephalic cyst, Posteriorly rotated ears, Redundant skin, Rhizomelia, Rhizomelic arm shortening, Short finger, Short long bone, Short metacarpal, Short neck, Short palm, Short phalanx of finger, Short ribs, Short toe, Spondylometaphyseal dysplasia, Talipes equinovarus, Turricephaly, Widened sacrosciatic notch
Choroid	PSMB4	0.547952593	0.000212848	Ubiquitin proteasome system protein	BrainSpLMD|5692	OMIM|602177
Choroid	RPLP0	0.754110722	0.000220157	Ribosomal subunit	BrainSpLMD|6175	OMIM|180510
Choroid	RPS4X	1.132689393	0.00022248	Ribosomal subunit	BrainSpLMD|6191;BrainSpMouseDev|19865	OMIM|312760
Choroid	RP11.274E7.2	0.9748473	0.000223682			
Choroid	RBP1	1.029781396	0.000227114	Transport/cargo protein	BrainSpLMD|5947;Eurexp|euxassay_003315|brain, corpus striatum, forelimb, hindbrain, hindlimb, mantle layer, midgut, olfactory lobe, telencephalon, turbinate bones	OMIM|180260
Choroid	CCDC65	2.906064812	0.000229607	Unclassified	BrainSpLMD|85478;Eurexp|euxassay_003694|choroid plexus, lateral recess, olfactory, roof plate	OMIM|611088;HPO|85478|Autosomal recessive inheritance, Bronchiectasis, Chronic bronchitis, Ciliary dyskinesia, Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Respiratory insufficiency due to defective ciliary clearance, Rhinitis, Sinusitis
Choroid	LRRC8C	2.285783315	0.000235659	Anchor protein	BrainSpLMD|84230	OMIM|612889
Choroid	TMEM258	0.943426489	0.000241491	Integral membrane protein	BrainSpLMD|746	OMIM|617615
Choroid	MZT2B	1.227027792	0.000245556	Unclassified	BrainSpLMD|80097	OMIM|613450
Choroid	DCDC1	2.990601978	0.000252695	Cytoskeletal associated protein	BrainSpLMD|341019	OMIM|608062
Choroid	FRMPD2	3.030278263	0.000255332	Unclassified	BrainSpLMD|143162	OMIM|613323
Choroid	NDUFB9	1.733935588	0.000261932	Enzyme: Oxidoreductase	BrainSpLMD|4715	OMIM|601445;HPO|4715|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
Choroid	TMEM117	2.433563515	0.000263352	Integral membrane protein	BrainSpLMD|84216	
Choroid	LINC01252	2.159700345	0.000263435			
Choroid	RP11.613D13.5	2.941124493	0.000265764			
Choroid	COLEC12	2.564753253	0.000267785	Cell surface receptor	BrainSpLMD|81035;Eurexp|euxassay_010114|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, left lung, meninges, mesenchyme, mesentery, mesothelium, midgut, naris, oesophagus, orbito-sphenoid, otic capsule, pelvic girdle, peritoneal cavity, petrous part, rib, right lung, scapula, sternum, stomach, tibia, trachea, turbinate bones, vault of skull	OMIM|607621
Choroid	IPO13	0.946207417	0.000272734	Nuclear receptor	BrainSpLMD|9670;Eurexp|euxassay_000242|brain, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, lobe, olfactory, spinal cord, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610411
Choroid	GOT1	2.06726211	0.000276748	Enzyme: Aminotransferase	BrainSpLMD|2805;Eurexp|euxassay_018495|adrenal gland, brain, cortex, diaphragm, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, oral epithelium, spinal cord, stroma, thymus primordium, trigeminal V, vagus X, ventricle, vertebral axis muscle system	OMIM|138180
Choroid	CACNB2	0.51713753	0.000286343	Voltage gated channel	BrainSpLMD|783;Eurexp|euxassay_008283|epithalamus, marginal layer, ventricular layer	SFARI||Autism, 3 - Suggestive evidence;OMIM|600003;HPO|783|Atrial fibrillation, Autosomal dominant inheritance, Shortened QT interval, Syncope
Choroid	RPL13	0.942939597	0.000287236	Ribonucleoprotein	BrainSpLMD|6137	OMIM|113703
Choroid	PIM2	2.654073152	0.000289675	Serine/threonine kinase	BrainSpLMD|11040	OMIM|300295
Choroid	CCDC81	4.087320999	0.000293853	Unclassified	BrainSpLMD|60494	
Choroid	FTH1P8	0.850035666	0.00029417			
Choroid	NUDC	1.079592303	0.000304041	Cell cycle control protein	BrainSpLMD|10726	OMIM|610325
Choroid	RPL13A	1.241376039	0.000304692	Ribosomal subunit		
Choroid	RP11.177G23.2	0.296843388	0.000308847			
Choroid	MT1F	1.70810594	0.000308858	Transport/cargo protein		OMIM|156352
Choroid	STRIP2	2.994593696	0.000314152	Unclassified	BrainSpLMD|57464;BrainSpMouseDev|107544	
Choroid	CLDN12	2.551381553	0.000314934	Cell junction protein	BrainSpLMD|9069	OMIM|611232
Choroid	NDUFB3	1.272255709	0.00031857	Enzyme: Oxidoreductase	BrainSpLMD|4709	OMIM|603839;HPO|4709|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
Choroid	HSPE1	0.730309411	0.000324089	Heat shock protein	BrainSpLMD|3336	OMIM|600141
Choroid	ITGA6	0.613162143	0.000326975	Cell surface receptor	BrainSpLMD|3655;Eurexp|euxassay_012071|cortex, incisor, lung, mantle layer, metanephros, molar, pancreas, penis, rectum, ventral grey horn, ventricle	OMIM|147556;HPO|3655|Abdominal distention, Abnormality of the genitourinary system, Anonychia, Aplasia cutis congenita, Aplasia of the bladder, Arthrogryposis multiplex congenita, Atrophic scars, Autosomal recessive inheritance, Axillary pterygia, Congenital onset, Congenital pyloric atresia, Death in infancy, Ectropion, Elevated maternal serum alpha-fetoprotein, Esophageal atresia, Fragile skin, Hematuria, Hydronephrosis, Hypoplasia of dental enamel, Intestinal atresia, Intractable diarrhea, Junctional split, Milia, Nail dysplasia, Nail dystrophy, Nausea and vomiting, Oral mucosal blisters, Polyhydramnios, Recurrent skin infections, Renal duplication, Renal dysplasia, Ureterocele, Urethral stricture, Urinary bladder inflammation
Choroid	AIFM1	1.940433178	0.000327858	Enzyme: Oxidoreductase	BrainSpLMD|9131	OMIM|300169;HPO|9131|Abnormal middle ear reflexes, Abnormal speech discrimination, Abnormality of the striatum, Areflexia, Decreased nerve conduction velocity, Delayed speech and language development, Developmental regression, Distal muscle weakness, Distal sensory impairment, Generalized hypotonia, Generalized muscle weakness, Hearing impairment, Hypokinesia, Impaired pain sensation, Increased CSF lactate, Increased connective tissue, Increased serum lactate, Increased serum pyruvate, Increased variability in muscle fiber diameter, Intellectual disability, Irritability, Kyphosis, Moderate global developmental delay, Pes cavus, Respiratory distress, Respiratory insufficiency, Scoliosis, Sensorimotor neuropathy, Sensory axonal neuropathy, Sensory neuropathy, Severe muscular hypotonia, Skeletal muscle atrophy, Tinnitus, Tongue fasciculations, Unsteady gait, X-linked recessive inheritance
Choroid	SIX3.AS1	1.204082981	0.00033317			
Choroid	ODC1	1.453628358	0.00034456	Enzyme: Decarboxylase	BrainSpLMD|4953	OMIM|165640
Choroid	FAH	3.594464952	0.000345172	Enzyme: Hydrolase	BrainSpLMD|2184;Eurexp|euxassay_004587|dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, mantle layer, trigeminal V	OMIM|613871;HPO|2184|Abnormal bleeding, Abnormality of coagulation, Abnormality of the abdominal wall, Acute hepatic failure, Ascites, Autosomal recessive inheritance, Cirrhosis, Elevated alpha-fetoprotein, Elevated hepatic transaminases, Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Episodic peripheral neuropathy, Failure to thrive, Gastrointestinal hemorrhage, Generalized aminoaciduria, Glomerulosclerosis, Hepatocellular carcinoma, Hepatomegaly, Hypermethioninemia, Hypertrophic cardiomyopathy, Hypertyrosinemia, Hypoglycemia, Hypophosphatemic rickets, Nephrocalcinosis, Pancreatic islet-cell hyperplasia, Paralytic ileus, Periodic paralysis, Renal Fanconi syndrome, Renal insufficiency, Splenomegaly
Choroid	RBMS3	1.10301102	0.00035217	RNA binding protein	BrainSpLMD|27303	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605786
Choroid	CTBS	1.896144432	0.000357579	Enzyme: Glycosidase	BrainSpLMD|1486;Eurexp|euxassay_009189|ventricular layer	OMIM|600873
Choroid	RAB36	1.886594322	0.000358381	GTPase	BrainSpLMD|9609	OMIM|605662
Choroid	ST13P3	0.600843956	0.000363197			
Choroid	PTRHD1	1.851879645	0.000366128	Unclassified		OMIM|617342
Choroid	COX4I1	1.27239898	0.000367231	Enzyme: Oxidoreductase	BrainSpLMD|1327	OMIM|123864
Choroid	PDE6B	1.942053847	0.000379725	Enzyme: Esterase	BrainSpLMD|5158	OMIM|180072;HPO|5158|Abnormal electroretinogram, Abnormal light- and dark-adapted electroretinogram, Abnormality of macular pigmentation, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Congenital stationary night blindness, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc hypoplasia, Photophobia, Progressive night blindness, Reduced visual acuity, Rod-cone dystrophy, Sensorineural hearing impairment, Severe Myopia, Wide nasal bridge
Choroid	GOLGA2P5	1.158895925	0.000380736	Unclassified	BrainSpLMD|55592	
Choroid	PIGF	0.588573815	0.000389025	Enzyme: Transferase	BrainSpLMD|5281;Eurexp|euxassay_006965|pancreas, stomach	OMIM|600153
Choroid	ST13P4	0.78256029	0.000392619		BrainSpLMD|145165	
Choroid	ABHD2	1.554179401	0.000394424	Enzyme: Hydrolase	BrainSpLMD|11057;Eurexp|euxassay_002585|adrenal gland, choroid plexus, cochlea, dorsal root ganglion, lateral recess, lung, naris, neural retina, olfactory, penis, respiratory, stomach, stroma, submandibular gland primordium, trigeminal V, vestibulocochlear VIII	OMIM|612196
Choroid	TTC30A	0.370051076	0.000412648	Unclassified	BrainSpLMD|92104	
Choroid	MAK	1.985002802	0.00041626	Serine/threonine kinase	BrainSpLMD|4117	OMIM|154235;HPO|4117|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Visual field defect, Wide nasal bridge
Choroid	CHCHD2P9	0.307762324	0.000419769			
Choroid	IGF2	1.253845279	0.000420642	Growth factor;Ligand	BrainSpLMD|3481;Eurexp|euxassay_007184|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, heart, lung, metanephros, midgut, neural retina, olfactory, respiratory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|15775	OMIM|147470;HPO|3481|Abnormality of the cardiovascular system, Abnormality of the dentition, Abnormality of the foot, Abnormality of the ureter, Accelerated skeletal maturation, Adrenocortical carcinoma, Adrenocortical cytomegaly, Asymmetry of the thorax, Autosomal dominant inheritance, Blue sclerae, Cafe-au-lait spot, Cardiomegaly, Cardiomyopathy, Clinodactyly of the 5th finger, Coarse facial features, Congenital posterior urethral valve, Craniofacial disproportion, Craniopharyngioma, Cryptorchidism, Dandy-Walker malformation, Decreased body weight, Delayed cranial suture closure, Delayed skeletal maturation, Diastasis recti, Downturned corners of mouth, Enlarged kidney, Facial asymmetry, Fasting hypoglycemia, Feeding difficulties in infancy, Frontal bossing, Generalized hypotonia, Global developmental delay, Gonadoblastoma, Growth hormone deficiency, Hemihypertrophy, Hepatoblastoma, Hepatocellular carcinoma, Hepatomegaly, Heterogeneous, Hypospadias, Intellectual disability, mild, Intrauterine growth retardation, Large fontanelles, Low-set ears, Macroglossia, Melanocytic nevus, Micrognathia, Midface retrusion, Motor delay, Neonatal hypoglycemia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Omphalocele, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Posterior helix pit, Prominent forehead, Prominent metopic ridge, Prominent occiput, Proptosis, Relative macrocephaly, Renal cortical cysts, Scoliosis, Short distal phalanx of the 5th finger, Short middle phalanx of the 5th finger, Short stature, Small for gestational age, Somatic mutation, Sporadic, Syndactyly, Testicular seminoma, Triangular face, Vesicoureteral reflux, X-linked recessive inheritance
Choroid	JAG1	0.935885188	0.000422171	Cell surface receptor	BrainSpLMD|182;Eurexp|euxassay_015945|aorta, epidermis, extrinsic ocular muscle, intermediate grey horn, lens, mantle layer, metanephros, pharyngo-tympanic tube, pineal primordium, ventricular layer, vestibular component;BrainSpMouseDev|16222	OMIM|601920;HPO|182|Abnormal nasal morphology, Abnormality of the ribs, Areflexia, Atrial septal defect, Autosomal dominant inheritance, Axenfeld anomaly, Band keratopathy, Brachydactyly, Broad forehead, Butterfly vertebral arch, Cataract, Chorioretinal atrophy, Cirrhosis, Clinodactyly of the 5th finger, Coarctation of aorta, Cryptorchidism, Deeply set eye, Depressed nasal bridge, Dolichocephaly, Elevated hepatic transaminases, Exocrine pancreatic insufficiency, Failure to thrive, Hemivertebrae, Hepatocellular carcinoma, Hypercholesterolemia, Hypertelorism, Hypertriglyceridemia, Hypoplasia of the ulna, Incomplete penetrance, Infantile onset, Intrauterine growth retardation, Long nose, Macrotia, Microcornea, Multiple small medullary renal cysts, Myopia, Papillary thyroid carcinoma, Peripheral pulmonary artery stenosis, Pigmentary retinal deposits, Posterior embryotoxon, Preauricular pit, Prolonged neonatal jaundice, Proptosis, Reduced number of intrahepatic bile ducts, Renal dysplasia, Renal hypoplasia, Renal tubular acidosis, Short distal phalanx of finger, Specific learning disability, Strabismus, Stroke, Tetralogy of Fallot, Thin vermilion border, Triangular face, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Vesicoureteral reflux
Choroid	RP1.232L22__B.1	1.111731963	0.000423055			
Choroid	XPOT	0.259871347	0.000429573	Transport/cargo protein	BrainSpLMD|11260	OMIM|603180
Choroid	TMEM14B	1.428029982	0.000433013	Integral membrane protein	BrainSpLMD|81853	
Choroid	RPS3	0.98204038	0.000438222	Ribosomal subunit		OMIM|600454
Choroid	SLC35F5	1.434638015	0.000439757	Membrane transport protein	BrainSpLMD|80255	
Choroid	LACTB2	1.370431451	0.000443894	Unclassified	BrainSpLMD|51110;Eurexp|euxassay_011455|cortex, lobe, lung, submandibular gland primordium, ventricular layer	
Choroid	CKAP4	1.826510553	0.000447612	Cytoskeletal associated protein	BrainSpLMD|10970	
Choroid	FUCA2	3.211699433	0.000449022	Enzyme: Hydrolase	BrainSpLMD|2519;Eurexp|euxassay_016437|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	OMIM|136820
Choroid	RIN2	0.915486112	0.000449724	Guanine nucleotide exchange factor	BrainSpLMD|54453	OMIM|610222;HPO|54453|Abnormality of the sternum, Alopecia, Autosomal recessive inheritance, Bruising susceptibility, Coarse facial features, Cognitive impairment, Cutis laxa, Decreased body weight, Downslanted palpebral fissures, Eclabion, Gingival overgrowth, High palate, High pitched voice, Hirsutism, Hyperextensible skin, Infra-orbital fold, Irregular dentition, Joint hypermobility, Long philtrum, Muscular hypotonia, Palpebral edema, Pes planus, Prolonged bleeding time, Redundant skin, Scoliosis, Short stature, Sparse and thin eyebrow, Sparse hair, Sparse scalp hair, Thick lower lip vermilion, Umbilical hernia, Upper eyelid edema
Choroid	LINC00665	1.322614812	0.000450732			
Choroid	TMEM59	1.242661271	0.000450916	Unclassified	BrainSpLMD|9528;Eurexp|euxassay_008205|alveolar sulcus, axial skeleton, basal columns, clavicle, femur, floor plate, floorplate, mandible, mantle layer, maxilla, olfactory, orbito-sphenoid, pituitary, rib, stomach	OMIM|617084
Choroid	KIAA1407	1.964066976	0.000459632			
Choroid	TMEM50B	1.550768956	0.000460854	Integral membrane protein	BrainSpLMD|757;Eurexp|euxassay_012115|Meckel's cartilage, arytenoid, axial skeleton, basioccipital bone, basisphenoid bone, carpus, cricoid, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, hyoid bone, mantle layer, marginal layer, metacarpus, naris, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rest of mesenchyme, rib, scapula, sternum, submandibular gland primordium, thyroid, tibia, trigeminal V, turbinate bones, ulna, vagus X, vault of skull, ventricular layer, vestibulocochlear VIII	
Choroid	PMS2P1	0.783236836	0.000461315			OMIM|605038
Choroid	GJA1	1.775755591	0.00046241	Membrane transport protein	BrainSpLMD|2697;BrainSpMouseDev|14385	OMIM|121014;HPO|2697|2-4 toe cutaneous syndactyly, 3-4 toe syndactyly, 4-5 finger syndactyly, Abnormal blistering of the skin, Abnormal cortical bone morphology, Abnormality of dental enamel, Abnormality of dental morphology, Abnormality of the cerebral white matter, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormality of the nasopharynx, Abnormality of the thorax, Absent middle phalanx of 5th finger, Alopecia, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the middle phalanges of the hand, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Basal ganglia calcification, Blepharophimosis, Bony paranasal bossing, Brachycephaly, Broad alveolar ridges, Broad columella, Broad long bones, Camptodactyly of finger, Carious teeth, Cataract, Cerebral calcification, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Club-shaped distal femur, Coarse facial features, Conductive hearing impairment, Congenital alopecia totalis, Congestive heart failure, Cranial hyperostosis, Craniofacial hyperostosis, Cubitus valgus, Curly hair, Cutaneous photosensitivity, Cyanosis, Delayed eruption of permanent teeth, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Depressed nasal bridge, Diabetes mellitus, Downslanted palpebral fissures, Dry hair, Dry skin, Dysarthria, Dystrophic fingernails, Epicanthus, Epidermal acanthosis, Erythema, External ear malformation, Facial hyperostosis, Facial palsy, Failure to thrive, Fifth finger distal phalanx clinodactyly, Fine hair, Finger syndactyly, Fingernail dysplasia, First degree atrioventricular block, Flared metaphysis, Fragile nails, Frontal bossing, Gait disturbance, Generalized hyperkeratosis, Glaucoma, High forehead, High-grade hypermetropia, Hip dislocation, Hyperactive deep tendon reflexes, Hypergranulosis, Hypermelanotic macule, Hyperreflexia, Hypertelorism, Hypoplasia of dental enamel, Hypoplasia of teeth, Hypoplasia of the maxilla, Hypoplastic aortic arch, Hypoplastic left heart, Hypotelorism, Hypotrichosis, Infantile onset, Inlet ventricular septal defect, Intellectual disability, Joint contracture of the 5th finger, Large earlobe, Long nose, Long philtrum, Low-set ears, Macrocephaly, Macrodontia of permanent maxillary central incisor, Mandibular prognathia, Median cleft lip, Metaphyseal dysplasia, Microcephaly, Microcornea, Microdontia, Micrognathia, Microphthalmia, Mild global developmental delay, Mixed hearing impairment, Muscle weakness, Myopia, Nail dysplasia, Narrow mouth, Narrow nasal bridge, Narrow nose, Nasal obstruction, Neurogenic bladder, Optic atrophy, Osteopetrosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Paraparesis, Patchy palmoplantar keratoderma, Patchy sclerosis of finger phalanx, Persistent pupillary membrane, Phenotypic variability, Premature loss of primary teeth, Premature loss of teeth, Primum atrial septal defect, Prominent epicanthal folds, Pulmonary arterial hypertension, Reduced number of teeth, Seizures, Selective tooth agenesis, Short 5th finger, Short foot, Short middle phalanx of the 5th finger, Short nose, Short palpebral fissure, Short stature, Skeletal dysplasia, Skin rash, Slow-growing hair, Small hand, Sparse eyelashes, Sparse hair, Spastic paraparesis, Spasticity, Telecanthus, Tetraparesis, Thin anteverted nares, Thin vermilion border, Toe syndactyly, Underdeveloped nasal alae, Vertebral hyperostosis, Visual impairment, Weight loss, Wide nasal bridge
Choroid	CCDC138	1.634390513	0.000474102	Unclassified	BrainSpLMD|165055	
Choroid	PAQR5	2.218198741	0.000484862	Unclassified	BrainSpLMD|54852	OMIM|607781
Choroid	GXYLT2	1.669153391	0.000488104	Enzyme: Transferase	Eurexp|euxassay_004176|aorta, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, orbito-sphenoid, petrous part, radius, rib, skeletal muscle, tibia, ulna	OMIM|613322
Choroid	GALNS	3.310137468	0.000493267	Enzyme: Sulphatase	BrainSpLMD|2588	OMIM|612222;HPO|2588|Abnormality of the heart valves, Autosomal recessive inheritance, Carious teeth, Cervical myelopathy, Cervical subluxation, Chondroitin sulfate excretion in urine, Coarse facial features, Constricted iliac wings, Coxa valga, Disproportionate short-trunk short stature, Epiphyseal deformities of tubular bones, Flaring of rib cage, Genu valgum, Grayish enamel, Hearing impairment, Hepatomegaly, Hyperlordosis, Hypoplasia of the odontoid process, Inguinal hernia, Joint laxity, Juvenile onset, Keratan sulfate excretion in urine, Kyphosis, Large elbow, Mandibular prognathia, Metaphyseal widening, Opacification of the corneal stroma, Osteoporosis, Ovoid vertebral bodies, Platyspondyly, Pointed proximal second through fifth metacarpals, Prominent sternum, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Scoliosis, Ulnar deviation of the wrist, Wide mouth, Widely spaced teeth
Choroid	SLC25A37	1.164059993	0.000497264	Transport/cargo protein	BrainSpLMD|51312;Eurexp|euxassay_007768|liver, mesenchyme	OMIM|610387
Choroid	PPME1	1.177673785	0.000501378	Enzyme: Methyltransferase	BrainSpLMD|51400;Eurexp|euxassay_003617|bladder, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, incisor, olfactory, penis, respiratory, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|611117
Choroid	USP51	0.897265195	0.000502524	Cysteine protease	BrainSpLMD|158880	
Choroid	TNFAIP8	1.294752298	0.000513058	Unclassified	BrainSpLMD|25816;Eurexp|euxassay_009284|axial skeleton, choroid plexus, cricoid, nasal septum, pectoral girdle and thoracic body wall, submandibular gland primordium, thymus primordium, thyroid, trachea, turbinate bones, ventricular layer	OMIM|612111
Choroid	ANKRD45	1.183473054	0.000514808	Unclassified	BrainSpLMD|339416	
Choroid	SYT17	1.619759651	0.000516667	Calcium binding protein	BrainSpLMD|51760;Eurexp|euxassay_014589|cervical, cervico-thoracic, thoracic, trigeminal V	SFARI||Autism, 4 - Minimal evidence
Choroid	MT.ND1	0.696004746	0.00051753			
Choroid	AGBL4	1.368117332	0.000522137	Unclassified	BrainSpLMD|84871;Eurexp|euxassay_014114|choroid invagination, choroid plexus, mantle layer, olfactory, roof plate, trigeminal V, vomeronasal organ	SFARI||Autism, 4 - Minimal evidence;OMIM|616476
Choroid	TRMT112	1.607617969	0.000526067	Unclassified	BrainSpLMD|51504;Eurexp|euxassay_005921|embryo	
Choroid	DNAH1	3.073057332	0.000526321	Unclassified	BrainSpLMD|25981	OMIM|603332;HPO|25981|Recurrent respiratory infections
Choroid	CD99	0.457817785	0.000535369	Unclassified		OMIM|450000
Choroid	RP11.254B13.1	0.665489789	0.000547769			
Choroid	FBN1	2.02721365	0.000548414	Extracellular matrix protein	BrainSpLMD|2200	SFARI||Autism, 3 - Suggestive evidence;OMIM|134797;HPO|2200|Abnormal cardiac ventricle morphology, Abnormal echocardiogram, Abnormality of dental morphology, Abnormality of the eyebrow, Abnormality of the iris, Abnormality of the sternum, Adducted thumb, Anteverted nares, Aortic dilatation, Aortic dissection, Aortic regurgitation, Aortic root dilatation, Aortic valve stenosis, Arachnodactyly, Ascending aortic dilation, Ascending aortic dissection, Autosomal dominant inheritance, Blindness, Blue sclerae, Brachycephaly, Brachydactyly, Broad metacarpals, Broad metatarsal, Broad palm, Broad phalanges of the hand, Broad ribs, Broad skull, Bruising susceptibility, Bulbous nose, Cardiomegaly, Cataract, Chest pain, Cognitive impairment, Cone-shaped epiphysis, Congestive heart failure, Coronary artery disease, Craniosynostosis, Crumpled ear, Cutis laxa, Cutis marmorata, Cystic medial necrosis of the aorta, Decreased muscle mass, Decreased nerve conduction velocity, Decreased testicular size, Deep philtrum, Deeply set eye, Delayed skeletal maturation, Dental crowding, Depressed nasal bridge, Descending aortic dissection, Dilatation of ascending aorta, Disproportionate tall stature, Dolichocephaly, Downslanted palpebral fissures, Dural ectasia, Ectopia lentis, Emphysema, Enlarged thorax, Exertional dyspnea, Feeding difficulties, Fifth metacarpal with ulnar notch, Flexion contracture, Full cheeks, Genu recurvatum, Glaucoma, Hammertoe, Heart murmur, Hepatomegaly, High palate, High, narrow palate, Hoarse voice, Hyperextensibility of the finger joints, Hypertelorism, Hypertension, Hypoplasia of the iris, Hypoplasia of the maxilla, Hyporeflexia, Hypoxemia, Incisional hernia, Increased arm span, Increased axial globe length, Intellectual disability, mild, Intrauterine growth retardation, Iridodonesis, Joint hypermobility, Joint stiffness, Kyphoscoliosis, Lack of skin elasticity, Left ventricular failure, Limitation of joint mobility, Lipoatrophy, Long eyelashes, Long face, Long philtrum, Long toe, Low-set ears, Lumbar hyperlordosis, Macrocephaly, Malar flattening, Mandibular prognathia, Medial rotation of the medial malleolus, Megalocornea, Micrognathia, Microspherophakia, Misalignment of teeth, Mitral annular calcification, Mitral regurgitation, Mitral stenosis, Mitral valve prolapse, Motor delay, Muscular hypotonia, Myopia, Narrow face, Narrow mouth, Narrow nose, Narrow palate, Neonatal respiratory distress, Oligohydramnios, Ovoid vertebral bodies, Paroxysmal dyspnea, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pes cavus, Pes planus, Pes valgus, Pneumothorax, Premature birth, Premature osteoarthritis, Prominent forehead, Prominent nasal bridge, Proportionate short stature, Proptosis, Protrusio acetabuli, Pulmonary arterial hypertension, Pulmonary artery dilatation, Pulmonic stenosis, Reduced subcutaneous adipose tissue, Respiratory insufficiency, Retinal detachment, Retrognathia, Round face, Scaphocephaly, Scoliosis, Severe Myopia, Severe short stature, Shallow anterior chamber, Shallow orbits, Short foot, Short long bone, Short metacarpal, Short nose, Short palm, Short phalanx of finger, Short stature, Short thumb, Small for gestational age, Small hand, Smooth philtrum, Spinal canal stenosis, Spondylolisthesis, Stiff skin, Striae distensae, Talipes calcaneovarus, Tall stature, Thick lower lip vermilion, Thickened skin, Thin bony cortex, Thin upper lip vermilion, Toe walking, Tricuspid regurgitation, Tricuspid valve prolapse, Ventricular septal defect, Wide nasal bridge
Choroid	COL3A1	0.536542395	0.000566605	Extracellular matrix protein	BrainSpLMD|1281;Eurexp|euxassay_004670|alimentary system, cardiovascular system, gland, integumental system, meninges, renal/urinary system, reproductive system, respiratory system;BrainSpMouseDev|12608	OMIM|120180;COSMIC||lipoblastoma;HPO|1281|Abnormality of oral frenula, Abnormality of the eyelashes, Abnormality of the urinary system, Absent earlobe, Alopecia of scalp, Aortic dissection, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Arterial dissection, Arteriovenous fistulas of celiac and mesenteric vessels, Autosomal dominant inheritance, Bladder diverticulum, Bruising susceptibility, Carious teeth, Cigarette-paper scars, Cognitive impairment, Convex nasal ridge, Cryptorchidism, Dermal translucency, Dilatation of the cerebral artery, Epicanthus, Excessive wrinkled skin, Fine hair, Flat face, Foot acroosteolysis, Fragile skin, Gastrointestinal infarctions, Glaucoma, Global developmental delay, Hemoptysis, Hyperextensible skin, Hypermobility of distal interphalangeal joints, Hypertelorism, Hypokalemia, Inguinal hernia, Intellectual disability, Internal hemorrhage, Irregular hyperpigmentation, Joint dislocation, Joint hyperflexibility, Joint hypermobility, Joint laxity, Keratoconus, Lipoatrophy, Macule, Melanocytic nevus, Micrognathia, Mitral valve prolapse, Molluscoid pseudotumors, Osteoarthritis, Osteolytic defects of the phalanges of the hand, Pectus excavatum, Periodontitis, Peripheral arteriovenous fistula, Pneumothorax, Premature birth, Premature delivery because of cervical insufficiency or membrane fragility, Premature loss of teeth, Proptosis, Protruding ear, Respiratory insufficiency, Scoliosis, Short foot, Short stature, Small hand, Soft skin, Spontaneous pneumothorax, Sprengel anomaly, Striae distensae, Talipes equinovarus, Telangiectasia of the skin, Telecanthus, Thin skin, Thin vermilion border, Uterine prolapse, Varicose veins
Choroid	ACTL6A	1.695949974	0.000569793	DNA binding protein	BrainSpLMD|86;Eurexp|euxassay_013581|cortex, epithelium, incisor, left lung, liver, molar, olfactory, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|604958
Choroid	UQCRQ	0.701921082	0.00057575	Unclassified	BrainSpLMD|27089	OMIM|612080;HPO|27089|Abnormality of extrapyramidal motor function, Absent speech, Ataxia, Athetosis, Autosomal recessive inheritance, Dystonia, Generalized hypotonia, Global developmental delay, Hyperreflexia, Increased serum lactate, Intellectual disability, Intellectual disability, severe
Choroid	SASH1	1.375044636	0.000583056	Adapter molecule	BrainSpLMD|23328	OMIM|607955
Choroid	RP11.301N24.3	0.812926242	0.000583373			
Choroid	ODF2	1.787903885	0.000586812	Motor protein	BrainSpLMD|4957	OMIM|602015
Choroid	AP000783.1	2.019863607	0.000592589			
Choroid	ZFP36L2	1.330176056	0.000615656	Transcription factor	BrainSpLMD|678	OMIM|612053
Choroid	CDC26	1.182122567	0.000621799	Cell cycle control protein	BrainSpLMD|246184	OMIM|614533
Choroid	CCDC157	0.713191955	0.000623935	Unclassified		
Choroid	IFT74	1.327232181	0.000641839	Unclassified	BrainSpLMD|80173;Eurexp|euxassay_011501|olfactory	OMIM|608040;HPO|80173|Autosomal recessive inheritance, Hypogonadism, Intellectual disability, Microcephaly, Obesity, Polydactyly, Rod-cone dystrophy
Choroid	ZNF521	0.382587982	0.00064216	Transcription regulatory protein	BrainSpLMD|25925;BrainSpMouseDev|86218	OMIM|610974;COSMIC||ALL
Choroid	ARL1	1.381152668	0.000643353	GTPase	BrainSpLMD|400	OMIM|603425
Choroid	PDIA3	1.20398906	0.000645506	Enzyme: Isomerase		OMIM|602046
Choroid	ADAMTS12	3.966094836	0.000652656	Metallo protease	BrainSpLMD|81792;Eurexp|euxassay_007605|clavicle, femur, fibula, floorplate, lip, mandible, maxilla, meninges, rib, skeletal muscle, submandibular gland primordium, tibia	OMIM|606184
Choroid	MDM1	1.780785724	0.000663114	Unclassified	BrainSpLMD|56890	OMIM|613813
Choroid	TMEM67	1.87093014	0.000671259	Unclassified	BrainSpLMD|91147	OMIM|609884;HPO|91147|Anemia, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Blindness, Breathing dysregulation, Cataract, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cirrhosis, Cleft palate, Coloboma, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Elevated hepatic transaminases, Elongated superior cerebellar peduncle, Encephalocele, Enlarged fossa interpeduncularis, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Heterogeneous, Hyperreflexia, Hypertelorism, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intrahepatic biliary atresia, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Multiple small medullary renal cysts, Muscular hypotonia, Nephronophthisis, Nephropathy, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic nerve coloboma, Polydactyly, Polydipsia, Polyuria, Portal hypertension, Postaxial foot polydactyly, Postaxial hand polydactyly, Ptosis, Renal corticomedullary cysts, Renal insufficiency, Retinal degeneration, Round face, Sclerocornea, Sloping forehead, Spasticity, Splenomegaly, Stage 5 chronic kidney disease, Talipes, Thickened superior cerebellar peduncle, Tubular atrophy, Tubular basement membrane disintegration, Visual impairment, Wide mouth
Choroid	GPBP1L1	1.540617732	0.000671797	Unclassified	BrainSpLMD|60313	
Choroid	DOCK5	0.930240655	0.000678338	Unclassified	BrainSpLMD|80005;Eurexp|euxassay_014244|cortex	OMIM|616904
Choroid	ANXA4	2.840259419	0.000679784	Calcium binding protein	BrainSpLMD|307;Eurexp|euxassay_000677|foregut-midgut junction, hindgut, lung, midgut, stomach, testis;BrainSpMouseDev|11533	OMIM|106491
Choroid	APLP2	0.900891789	0.000681897	Integral membrane protein	BrainSpLMD|334;Eurexp|euxassay_004667|axial muscle, fundus region, submandibular gland primordium, urethra, ventral grey horn, vibrissa	OMIM|104776
Choroid	C21orf58	1.049754341	0.0006819	Unclassified	BrainSpLMD|54058	
Choroid	HSPH1	0.779075014	0.000683952	Heat shock protein;Chaperone	BrainSpLMD|10808	OMIM|610703
Choroid	MYOF	0.798961059	0.00069843	Integral membrane protein	BrainSpLMD|26509	OMIM|604603
Choroid	VPS52	2.291518012	0.000705411	Transport/cargo protein	BrainSpLMD|6293	OMIM|603443
Choroid	PCCA	1.108678313	0.000706756	Enzyme: Carboxylase	BrainSpLMD|5095;Eurexp|euxassay_018934|marginal layer, nucleus pulposus, orbito-sphenoid, submandibular gland primordium, ventricular layer, vibrissa	SFARI||Autism, No category;OMIM|232000;HPO|5095|Abnormality of immune system physiology, Acute encephalopathy, Anemia, Apnea, Arrhythmia, Autosomal recessive inheritance, Cardiomyopathy, Cerebral atrophy, Coma, Constipation, Dehydration, Dystonia, Eczema, Failure to thrive, Feeding difficulties in infancy, Global developmental delay, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Hyperglycinuria, Hypoglycemia, Intellectual disability, Lactic acidosis, Lethargy, Limb hypertonia, Metabolic acidosis, Muscular hypotonia of the trunk, Neutropenia, Organic aciduria, Osteoporosis, Pancreatitis, Pancytopenia, Poor appetite, Propionyl-CoA carboxylase deficiency, Seizures, Short stature, Tachypnea, Thrombocytopenia, Vomiting
Choroid	NUCB2	1.474178505	0.000711238	Calcium binding protein	BrainSpLMD|4925;BrainSpMouseDev|32802	OMIM|608020
Choroid	TMEM205	1.630643335	0.000717744	Unclassified	BrainSpLMD|374882	OMIM|613771
Choroid	PRDX4	1.665946465	0.000720112	Enzyme: Peroxidase	BrainSpLMD|10549	OMIM|300927
Choroid	LRP2BP	1.251511315	0.00072468	Adapter molecule	BrainSpLMD|55805	SFARI||Autism, No category
Choroid	DAD1	1.141211145	0.00073333	Adapter molecule	BrainSpLMD|1603;Eurexp|euxassay_012117|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|600243
Choroid	RP11.742N3.1	0.858163524	0.000737504			
Choroid	ST13	1.026933885	0.000739079	Adapter molecule	BrainSpLMD|6767	OMIM|606796
Choroid	ARSA	2.35278546	0.000745074	Enzyme: Sulphatase	BrainSpLMD|410	OMIM|607574;HPO|410|Abnormality of the cerebral white matter, Ataxia, Autosomal recessive inheritance, Babinski sign, Bulbar palsy, Cholecystitis, Chorea, Decreased nerve conduction velocity, Delusions, Dysarthria, Dystonia, EMG: neuropathic changes, Emotional lability, Gait disturbance, Gallbladder dysfunction, Generalized hypotonia, Hallucinations, Hyperreflexia, Hyporeflexia, Increased CSF protein, Intellectual disability, Loss of speech, Mental deterioration, Optic atrophy, Peripheral demyelination, Progressive peripheral neuropathy, Seizures, Spastic tetraplegia, Tetraplegia, Urinary incontinence
Choroid	UBXN11	3.005588453	0.000752392	Adapter molecule	BrainSpLMD|91544	OMIM|609151
Choroid	AK4	2.202155797	0.000766505	Enzyme: Phosphotransferase	BrainSpLMD|205;Eurexp|euxassay_010883|clavicle, hindgut, incisor, midgut, molar, olfactory, rectum, stomach	OMIM|103030
Choroid	CCDC104	1.21264052	0.000781661			
Choroid	TMEM68	0.652744759	0.00079252	Enzyme: Acyltransferase	BrainSpLMD|137695	
Choroid	NUDT6	2.78707589	0.000797552	Growth factor		OMIM|606261
Choroid	THADA	1.469603304	0.000807178	Unclassified	BrainSpLMD|63892	OMIM|611800
Choroid	NUP37	1.609077027	0.000810363	Transport/cargo protein	BrainSpLMD|79023;Eurexp|euxassay_006091|ventricular layer	OMIM|609264
Choroid	RPL13AP5	0.965206848	0.000810931			
Choroid	FTH1P11	0.411245264	0.000817919			
Choroid	PTTG1	1.205201138	0.000819344	Transcription regulatory protein	BrainSpLMD|9232	OMIM|604147
Choroid	SYNE1	0.930958734	0.00083843	Unclassified	BrainSpLMD|23345	SFARI||Autism, 4 - Minimal evidence;OMIM|608441;HPO|23345|Adult onset, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Childhood onset, Dysarthria, Dysmetria, Elevated serum creatine phosphokinase, Gait ataxia, Left ventricular septal hypertrophy, Limb ataxia, Muscular dystrophy, Neck muscle weakness, Nystagmus, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Slow progression
Choroid	AKNA	1.241416509	0.000855669	Transcription factor	BrainSpLMD|80709;Eurexp|euxassay_019530|marginal layer, neural retina, olfactory, thymus primordium, ventricular layer, vomeronasal organ;BrainSpMouseDev|64352	OMIM|605729
Choroid	POP5	1.233636456	0.000866517	Ribonuclease	BrainSpLMD|51367;Eurexp|euxassay_014299|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate	OMIM|609992
Choroid	PLS3	0.695922814	0.000869684	Structural protein	BrainSpLMD|5358	OMIM|300131;HPO|5358|Osteopenia, Osteoporosis, Vertebral compression fractures, X-linked dominant inheritance
Choroid	IPO8	0.77954407	0.000872387	Transport/cargo protein	BrainSpLMD|10526;Eurexp|euxassay_011001|lens	OMIM|605600
Choroid	FAM161A	1.754623542	0.000880126	Unclassified	Eurexp|euxassay_013156|choroid invagination, choroid plexus, roof plate	OMIM|613596;HPO|84140|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
Choroid	SLC2A10	0.848906189	0.000884667	Membrane transport protein	BrainSpLMD|81031;Eurexp|euxassay_014490|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606145;HPO|81031|Abnormal carotid artery morphology, Abnormal thrombosis, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Aortic root dilatation, Aortic tortuosity, Aortic valve stenosis, Arachnodactyly, Autosomal recessive inheritance, Blepharophimosis, Bruising susceptibility, Congenital diaphragmatic hernia, Congenital onset, Congestive heart failure, Convex nasal ridge, Craniosynostosis, Cutis laxa, Downslanted palpebral fissures, Fatigue, Femoral hernia, Flexion contracture, Generalized arterial tortuosity, Generalized hypotonia, Hiatus hernia, High palate, Hyperextensible skin, Hypertelorism, Hypertension, Inguinal hernia, Ischemic stroke, Joint hyperflexibility, Joint laxity, Long face, Long philtrum, Macrotia, Median cleft lip and palate, Micrognathia, Pectus carinatum, Pectus excavatum, Pulmonary artery stenosis, Soft, doughy skin, Telangiectases of the cheeks, Telangiectasia of the skin, Thin skin, Umbilical hernia, Ventricular hypertrophy
Choroid	ECH1	1.753735859	0.000892758	Enzyme: Hydratase	BrainSpLMD|1891	OMIM|600696
Choroid	ATP6V1D	0.893965794	0.00090714	ATPase	BrainSpLMD|51382;Eurexp|euxassay_003760|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, stroma, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|609398
Choroid	CHSY1	1.534347364	0.000918709	Enzyme: Glycosyltransferase	BrainSpLMD|22856	OMIM|608183;HPO|22856|Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Brachydactyly, Carpal synostosis, Clinodactyly, Deep philtrum, Diastema, Highly arched eyebrow, Hitchhiker thumb, Microdontia, Short metacarpal, Short metatarsal, Syndactyly, Synophrys, Talon cusp, Tarsal synostosis
Choroid	GPAA1	2.187390493	0.000925316	Anchor protein	BrainSpLMD|8733	OMIM|603048
Choroid	ELP4	2.602532635	0.000935906	Enzyme: Acyltransferase	BrainSpLMD|26610	SFARI||Autism, 3 - Suggestive evidence;OMIM|606985;HPO|26610|Aniridia, Autosomal dominant inheritance, Cataract, Glaucoma, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Nystagmus, Opacification of the corneal stroma, Optic nerve hypoplasia
Choroid	PPP1CA	1.780892739	0.000949047	Serine/threonine phosphatase	BrainSpLMD|5499	OMIM|176875
Choroid	DFNB31	1.354140566	0.00095571			
Choroid	DNAL1	0.953462865	0.000962406	Unclassified	BrainSpLMD|83544	OMIM|610062;HPO|83544|Abnormal ciliary motility, Absent outer dynein arms, Autosomal recessive inheritance, Bronchiectasis, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Congenital onset, Recurrent respiratory infections, Situs inversus totalis
Choroid	PLCH1	2.559511466	0.000965318	Unclassified	BrainSpMouseDev|92752	OMIM|612835
Choroid	RHPN2	3.014226636	0.000974449	Adapter molecule	BrainSpLMD|85415	
Choroid	NME9	0.717624154	0.000981948	Cytoskeletal associated protein	BrainSpLMD|347736	
Choroid	EIF3E	0.415297476	0.000990625	Translation regulatory protein	BrainSpLMD|3646	OMIM|602210;COSMIC||colorectal
Choroid	KDM3A	1.924855634	0.00099428	Unclassified	BrainSpLMD|55818	OMIM|611512
Choroid	MLLT1	0.681630903	0.000995381	Transcription factor	BrainSpLMD|4298	OMIM|159556;COSMIC||AL
Choroid	SLCO3A1	1.453432291	0.001007466	Membrane transport protein	BrainSpLMD|28232;Eurexp|euxassay_000780|cervical, cervico-thoracic, dorsal root ganglion, thoracic, vagus X	OMIM|612435
Choroid	RIIAD1	2.486783544	0.00103493	Unclassified		
Choroid	C19orf70	1.475703553	0.001040938	Unclassified	BrainSpLMD|125988	OMIM|616658;HPO|125988|3-Methylglutaconic aciduria, Ataxia, Choreoathetosis, Dysarthria, Intellectual disability, Nystagmus, Spastic paraparesis, Visual impairment
Choroid	TOPORS.AS1	1.33283282	0.001044822			
Choroid	RPS15	1.034464061	0.00105657	Ribosomal subunit	BrainSpLMD|6209;Eurexp|euxassay_006826|embryo	OMIM|180535
Choroid	RPS7P11	0.677429944	0.001057739			
Choroid	RP11.603J24.7	1.808987263	0.00106915			
Choroid	TMEM231	1.869681219	0.001075994	Unclassified	BrainSpLMD|79583	SFARI||Autism, No category;OMIM|614949;HPO|79583|Absent speech, Aggressive behavior, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autistic behavior, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cataract, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cleft palate, Congenital hepatic fibrosis, Congenital onset, Cryptorchidism, Depressed nasal ridge, Encephalocele, Full cheeks, Global developmental delay, Hypertelorism, Intellectual disability, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Muscular hypotonia, Nephropathy, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Polycystic kidney dysplasia, Polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Ptosis, Renal cyst, Respiratory insufficiency, Retinal dystrophy, Sclerocornea, Self-mutilation, Sloping forehead, Tachypnea, Talipes
Choroid	KIAA0319L	0.833973917	0.001078682	Integral membrane protein	BrainSpLMD|79932;Eurexp|euxassay_005035|adenohypophysis, brain, dorsal root ganglion, glossopharyngeal IX, hindgut, loop, midgut, olfactory, rectum, respiratory, spinal cord, stomach, trigeminal V, vestibulocochlear VIII	OMIM|613535;HPO|79932|Autoimmunity, Dysphagia, Gastroesophageal reflux, Hypopigmented skin patches, Mucosal telangiectasiae, Narrow foramen obturatorium, Nausea and vomiting, Skin ulcer, Telangiectasia of the skin
Choroid	RPL23	0.462929645	0.001099092	Ribosomal subunit	BrainSpLMD|9349	OMIM|603662
Choroid	IFI27L2	0.965276295	0.001100834	Integral membrane protein	BrainSpLMD|83982;Eurexp|euxassay_012919|adrenal gland, testis	OMIM|611319
Choroid	FAM89A	1.666568891	0.001105566	Unclassified	BrainSpLMD|375061;Eurexp|euxassay_015959|facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	
Choroid	NFE2L1	0.37929089	0.001109617	Transcription factor	BrainSpLMD|4779;BrainSpMouseDev|17790	OMIM|163260
Choroid	RPL35A	0.295872823	0.001119738	Ribosomal subunit	BrainSpLMD|6165;Eurexp|euxassay_000501|basisphenoid bone, glossopharyngeal IX, mantle layer, orbito-sphenoid, otic capsule, pancreas, sphenoid, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, ventricular layer, vestibular component	OMIM|180468;HPO|6165|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Erythroid hypoplasia, Fatigue, Global developmental delay, Hypertelorism, Hypospadias, Infantile onset, Leukopenia, Low-set ears, Macrocytic anemia, Migraine, Pallor, Reticulocytopenia, Short stature, Ventricular septal defect
Choroid	SLC25A3	1.350934603	0.001130156	Transport/cargo protein	BrainSpLMD|5250	OMIM|600370;HPO|5250|Abnormal mitochondrial shape, Abnormality of the mitochondrion, Autosomal recessive inheritance, Cyanosis, Failure to thrive, Hypertrophic cardiomyopathy, Increased serum lactate, Lactic acidosis, Low-output congestive heart failure, Metabolic acidosis, Muscular hypotonia, Myopathy, Respiratory insufficiency
Choroid	ALG8	1.552123971	0.001130931	Enzyme: Glycosyltransferase	BrainSpLMD|79053	OMIM|608103;HPO|79053|Abnormality of the renal tubule, Cataract, Hepatic failure, Lymphedema
Choroid	HNRNPA1P8	0.3835031	0.001140732			
Choroid	SPINT2	2.073479452	0.001149502	Protease inhibitor	BrainSpLMD|10653;Eurexp|euxassay_010770|bladder, calyces, choroid invagination, choroid plexus, cochlea, cornea, ductus deferens, ear, epidermis, epithelium, incisor, larynx, left lung, mantle layer, metanephros, midgut, molar, olfactory, oral epithelium, pancreas, pelvis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, respiratory, right lung, roof plate, stomach, submandibular gland primordium, thymus primordium, thyroid, urethra, utricle, ventricle, vibrissa, vomeronasal organ;BrainSpMouseDev|20495	OMIM|605124;HPO|10653|Abdominal distention, Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Choanal atresia, Corneal erosion, Hypertelorism, Polyhydramnios, Secretory diarrhea
Choroid	C7orf55	1.153943958	0.00115895			
Choroid	TAF9	1.716604609	0.001189513	Transcription regulatory protein	BrainSpLMD|6880;Eurexp|euxassay_002090|thymus primordium;BrainSpMouseDev|72303	OMIM|600822
Choroid	RP11.69L16.5	0.874500465	0.001191294			
Choroid	BBIP1	0.759036785	0.001206186			OMIM|613605;HPO|92482|Abnormal electroretinogram, Autosomal recessive inheritance, Brachydactyly, Cataract, Cognitive impairment, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Multicystic kidney dysplasia, Nystagmus, Obesity, Pigmentary retinopathy, Postaxial hand polydactyly, Renal insufficiency, Rod-cone dystrophy, Short stature
Choroid	UBL5	0.803395511	0.001211609	Ubiquitin proteasome system protein	BrainSpLMD|59286	OMIM|606849
Choroid	XRN1	0.691392731	0.001220635	Ribonuclease	BrainSpLMD|54464	OMIM|607994
Choroid	RP11.134O21.1	1.230798505	0.001224052			
Choroid	SNAPC5	1.034281304	0.001224089	Transcription regulatory protein	BrainSpLMD|10302	OMIM|605979
Choroid	IFT43	1.753887606	0.001225563	Unclassified	BrainSpLMD|112752	OMIM|614068;HPO|112752|Abnormal diaphysis morphology, Abnormal toenail morphology, Abnormality of the fingernails, Abnormality of the metaphysis, Anteverted nares, Autosomal recessive inheritance, Brachydactyly, Broad nail, Craniosynostosis, Cutis laxa, Dolichocephaly, Dry skin, Ectodermal dysplasia, Epicanthus, Everted lower lip vermilion, Fine hair, Finger syndactyly, Frontal bossing, Hypodontia, Hypoplasia of teeth, Hypotelorism, Joint hyperflexibility, Joint laxity, Microdontia, Narrow chest, Nephronophthisis, Osteoporosis, Pectus excavatum, Prominent occiput, Rhizomelia, Short distal phalanx of finger, Short nail, Short stature, Sparse hair, Syndactyly, Widely spaced teeth
Choroid	TANC1	1.121162771	0.001234353	Unclassified	Eurexp|euxassay_012462|mandible, maxilla, metanephros, ventricular layer	OMIM|611397
Choroid	IFI27L1	1.395844227	0.0012528	Integral membrane protein	BrainSpLMD|122509	OMIM|611320
Choroid	RPS7P1	1.128662947	0.001277788			
Choroid	CXCL14	1.928005786	0.001331285	Chemokine	BrainSpLMD|9547	OMIM|604186
Choroid	RP11.59K5.1	0.308787587	0.001331939			
Choroid	NFU1	1.801680905	0.001337768	Unclassified	BrainSpLMD|27247	OMIM|608100;HPO|27247|Autosomal recessive inheritance, Decreased activity of mitochondrial respiratory chain, Failure to thrive, Feeding difficulties, Global developmental delay, Lactic acidosis, Lethargy, Muscle weakness, Pulmonary arterial hypertension, Respiratory failure
Choroid	RPS12	0.795575587	0.001356419	Ribosomal subunit	BrainSpMouseDev|19805	OMIM|603660
Choroid	UQCC2	1.553948107	0.001363652	Unclassified	BrainSpLMD|84300;Eurexp|euxassay_000835|basal plate, epidermal component, facial VII, submandibular gland primordium, trigeminal V, ventricular layer	OMIM|614461;HPO|84300|Aggressive behavior, Autosomal recessive inheritance, Cryptorchidism, Depressed nasal bridge, Epicanthus, Global developmental delay, Hyperactivity, Infantile onset, Intrauterine growth retardation, Metabolic acidosis, Neonatal hypotonia, Poor speech, Postaxial polydactyly, Proximal renal tubular acidosis, Seizures, Synophrys, Upslanted palpebral fissure
Choroid	GLB1	2.555573042	0.001379798	Enzyme: Hydroxylase	BrainSpLMD|2720	OMIM|611458;HPO|2720|Abnormality of blood and blood-forming tissues, Abnormality of the face, Abnormality of the heart valves, Abnormality of the liver, Abnormality of the spleen, Abnormality of the urinary system, Angiokeratoma corporis diffusum, Anterior beaking of lumbar vertebrae, Aortic valve stenosis, Ataxia, Autosomal recessive inheritance, Beaking of vertebral bodies, Carious teeth, Cerebral atrophy, Cerebral degeneration, Cervical myelopathy, Cervical subluxation, Cherry red spot of the macula, Coarse facial features, Congestive heart failure, Constricted iliac wings, Coxa valga, Death in infancy, Decreased beta-galactosidase activity, Depressed nasal ridge, Developmental stagnation, Diffuse cerebral atrophy, Dilated cardiomyopathy, Disproportionate short-trunk short stature, Dystonia, Epiphyseal deformities of tubular bones, Flared iliac wings, Flaring of rib cage, Foam cells, Frontal bossing, Gait disturbance, Generalized myoclonic seizures, Genu valgum, Gingival overgrowth, Grayish enamel, Hearing impairment, Hepatomegaly, Hyperlordosis, Hypertelorism, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoplasia of the odontoid process, Hypoplastic acetabulae, Hypoplastic vertebral bodies, Inguinal hernia, Intellectual disability, Intellectual disability, mild, Intimal thickening in the coronary arteries, Joint laxity, Joint stiffness, Juvenile onset, Keratan sulfate excretion in urine, Kyphosis, Mandibular prognathia, Metaphyseal widening, Opacification of the corneal stroma, Optic atrophy, Osteoporosis, Ovoid vertebral bodies, Platyspondyly, Pointed proximal second through fifth metacarpals, Progressive psychomotor deterioration, Prominent sternum, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Scoliosis, Sea-blue histiocytosis, Severe short stature, Short neck, Short stature, Skeletal muscle atrophy, Slurred speech, Spastic tetraplegia, Splenomegaly, Thickened ribs, Ulnar deviation of the wrist, Vacuolated lymphocytes, Ventriculomegaly, Wide mouth, Widely spaced teeth
Choroid	PLEKHA4	1.315423057	0.001380913	Adapter molecule	BrainSpLMD|57664;Eurexp|euxassay_008858|brachial plexus, choroid invagination, choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, laryngeal, lumbo-sacral plexus, naris, oesophagus, peripheral nervous system, roof plate, thyroid, tongue, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII	OMIM|607769
Choroid	SETD3	0.984621786	0.001382612	Enzyme: Methyltransferase	BrainSpLMD|84193	OMIM|615671
Choroid	G6PC3	2.014295908	0.001383828	Enzyme: Phosphatase	BrainSpLMD|92579;Eurexp|euxassay_000619|olfactory, ventricular layer	OMIM|611045;HPO|92579|Anemia, Atrial septal defect, Autosomal recessive inheritance, Broad thumb, Cleft palate, Clinodactyly, Cryptorchidism, Erythroid hypoplasia, Failure to thrive, Growth delay, Hearing impairment, Hepatomegaly, High palate, Hypoplasia of the thymus, Lymphopenia, Microcephaly, Mitral regurgitation, Monocytosis, Neutropenia, Patent ductus arteriosus, Pectus carinatum, Phenotypic variability, Pulmonary arterial hypertension, Pulmonic stenosis, Recurrent bacterial infections, Recurrent respiratory infections, Respiratory insufficiency, Sepsis, Single transverse palmar crease, Splenomegaly, Thrombocytopenia, Varicose veins, Wide nasal bridge
Choroid	DNAH2	0.875053863	0.001409134	ATPase	BrainSpLMD|146754;Eurexp|euxassay_013960|floorplate, mantle layer, roof plate	OMIM|603333
Choroid	DECR1	1.455374303	0.001429584	Enzyme: Reductase	BrainSpLMD|1666	OMIM|222745
Choroid	WWOX	1.811731864	0.001435961	Enzyme: Oxidoreductase	BrainSpLMD|51741	SFARI||Autism, 3 - Suggestive evidence;OMIM|605131;HPO|51741|Abnormal sex determination, Abnormality of the labia, Abnormality of the scrotum, Abnormality of the voice, Ambiguous genitalia, Autosomal recessive inheritance, Azoospermia, Cerebellar atrophy, Chest pain, Clinodactyly of the 5th toe, Clitoral hypertrophy, Cough, Cryptorchidism, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Dysarthria, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Epileptic encephalopathy, Esophageal carcinoma, Feeding difficulties in infancy, Female external genitalia in individual with 46,XY karyotype, Gait ataxia, Gaze-evoked nystagmus, Global developmental delay, Gonadal dysgenesis, Gynecomastia, Hypergonadotropic hypogonadism, Hyperreflexia, Hypokinesia, Hypoplasia of the vagina, Hyporeflexia, Hypospadias, Intellectual disability, Limb ataxia, Male infertility, Microcephaly, Micropenis, Muscular hypotonia of the trunk, Nausea and vomiting, Osteoporosis, Primary amenorrhea, Progressive microcephaly, Rigidity, Seizures, Sparse axillary hair, Sparse pubic hair, Spasticity, Streak ovary, Urogenital sinus anomaly, Vanishing testis, Variable expressivity
Choroid	OXA1L	1.997332932	0.001439261	Enzyme: Oxidase	BrainSpLMD|5018	OMIM|601066
Choroid	TECR	1.891101516	0.001442599	Enzyme: Reductase	BrainSpLMD|9524;Eurexp|euxassay_004555|cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, marginal layer, neural retina, nucleus pulposus, rib, right lung, stroma, submandibular gland primordium, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610057;HPO|9524|Autosomal recessive inheritance, Delayed speech and language development, Intellectual disability, Narrow palate
Choroid	GK	2.375513602	0.00145044	Enzyme: Phosphotransferase	BrainSpLMD|2710	OMIM|300474;HPO|2710|Adrenal insufficiency, Adrenocortical hypoplasia, Coma, Downturned corners of mouth, Episodic vomiting, Frontal bossing, Global developmental delay, Hypertelorism, Hypertriglyceridemia, Hypoglycemia, Increased urinary glycerol, Intellectual disability, Ketoacidosis, Lethargy, Low-set ears, Metabolic acidosis, Muscular dystrophy, Myopathy, Osteoporosis, Pathologic fracture, Seizures, Short stature, Small for gestational age, Strabismus, X-linked dominant inheritance, X-linked recessive inheritance
Choroid	NOA1	1.483974512	0.001455459	Unclassified	BrainSpLMD|84273;Eurexp|euxassay_012087|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, otic capsule, pelvic girdle, rib, scapula, temporal bone, tibia, turbinate, vault of skull	OMIM|614919
Choroid	EFCAB10	0.823403738	0.001456097			
Choroid	TSEN34	1.441592649	0.001462218	RNA endonuclease	BrainSpLMD|79042	OMIM|608754;HPO|79042|Autosomal recessive inheritance, Cerebellar hemisphere hypoplasia, Cerebellar vermis hypoplasia, Chorea, Dystonia, Microcephaly, Visual impairment
Choroid	CTC.459F4.3	1.051388608	0.001463691			
Choroid	PFDN2	0.581313254	0.001465808	Chaperone	BrainSpLMD|5202	OMIM|613466
Choroid	SLC25A13	1.095423989	0.001485213	Calcium binding protein;Transport/cargo protein	BrainSpLMD|10165;Eurexp|euxassay_006704|adrenal gland, choroid invagination, choroid plexus, cortex, incisor, left lung, liver, midgut, olfactory, orbito-sphenoid, pancreas, rectum, right lung, stomach, submandibular gland primordium, thymus primordium, thyroid, ventricle, ventricular layer, vibrissa	OMIM|603859;HPO|10165|Autosomal recessive inheritance, Cerebral edema, Cirrhosis, Coma, Confusion, Decreased circulating high-density lipoprotein levels, Elevated hepatic transaminases, Elevated plasma citrulline, Failure to thrive, Growth delay, Hepatic steatosis, Hepatocellular carcinoma, Hyperammonemia, Hyperbilirubinemia, Hypercholesterolemia, Hypermethioninemia, Hypertriglyceridemia, Intrahepatic cholestasis, Pancreatitis
Choroid	LRRN2	2.816644891	0.00149311	Adhesion molecule	BrainSpLMD|10446;Eurexp|euxassay_008430|bladder, brain, cervical, cervico-thoracic, cortex, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, mesenchyme, mesentery, midgut, skeletal muscle, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605492
Choroid	RPL10A	0.853602327	0.001508162	Ribosomal subunit		OMIM|615660
Choroid	SEC11A	1.167993177	0.001547446	Aminopeptidase	BrainSpLMD|23478;Eurexp|euxassay_003417|Meckel's cartilage, basisphenoid bone, calyces, cervical, cervico-thoracic, clavicle, dorsal root ganglion, glossopharyngeal IX, incisor, mantle layer, olfactory, orbital fissure, orbito-sphenoid, pancreas, respiratory, submandibular gland primordium, testis, thoracic, trigeminal V, vagus X, ventral grey horn, vibrissa	
Choroid	PLK4	3.255273124	0.00155241	Serine/threonine kinase	BrainSpLMD|10733;Eurexp|euxassay_003979|Meckel's cartilage, clavicle, cranium, rib, turbinate	OMIM|605031;HPO|10733|Abnormality of dental enamel, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the eyelashes, Absent earlobe, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Autosomal recessive inheritance, Biparietal narrowing, Cachexia, Cataract, Cerebellar atrophy, Cerebral atrophy, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital onset, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Hip dysplasia, Hypertonia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Mild global developmental delay, Narrow face, Nystagmus, Optic atrophy, Pointed chin, Prematurely aged appearance, Protruding ear, Reduced number of teeth, Sandal gap, Scoliosis, Seizures, Short stature, Sloping forehead, Sparse scalp hair, Strabismus, Visual impairment, Wide nasal bridge
Choroid	GBAS	1.390717154	0.001553804			
Choroid	EEF1D	1.188631521	0.001557573	Guanine nucleotide exchange factor	BrainSpLMD|1936	OMIM|130592
Choroid	SMYD2	1.482722967	0.001567817	Unclassified	BrainSpLMD|56950;Eurexp|euxassay_006257|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, respiratory, retina, spinal cord, stroma, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|610663
Choroid	LYN	2.775293403	0.001582105	Tyrosine kinase	BrainSpLMD|4067	OMIM|165120
Choroid	FKBP9	0.626500673	0.001584516	Chaperone	BrainSpLMD|11328;Eurexp|euxassay_007465|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, metatarsus, nasal septum, nucleus pulposus, orbito-sphenoid, otic capsule, phalanx, radius, rib, sternum, temporal bone, thyroid, tibia, turbinate, ulna, vault of skull	OMIM|616257;COSMIC||glioma
Choroid	PSMC2	1.490822362	0.001611284	Ubiquitin proteasome system protein	BrainSpLMD|5701	OMIM|154365
Choroid	P4HTM	2.212730137	0.00161355	Enzyme: Hydroxylase	BrainSpLMD|54681	OMIM|614584
Choroid	CKLF	1.061160115	0.001620146	Chemokine	BrainSpLMD|51192	OMIM|616074
Choroid	PPIF	0.92605164	0.001632731	Enzyme: Isomerase	BrainSpLMD|10105	OMIM|604486
Choroid	RP11.889L3.1	0.788024612	0.001684915			
Choroid	FOXN4	1.381339636	0.001698655	Transcription factor	BrainSpLMD|121643;Eurexp|euxassay_019663|neural retina, ventricular layer;BrainSpMouseDev|78123	OMIM|609429
Choroid	WDR60	1.987512726	0.001709084	Unclassified	BrainSpLMD|55112;Eurexp|euxassay_012520|mandible, maxilla, olfactory, orbito-sphenoid	OMIM|615462;HPO|55112|Abdominal distention, Abnormal pelvis bone ossification, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Absent or minimally ossified vertebral bodies, Acetabular spurs, Ambiguous genitalia, Autosomal recessive inheritance, Brachydactyly, Cleft upper lip, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Failure to thrive, Femoral bowing, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypoplasia of penis, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Narrow chest, Pancreatic fibrosis, Polyhydramnios, Postaxial hand polydactyly, Postaxial polydactyly, Preaxial polydactyly, Pulmonary hypoplasia, Renal hypoplasia, Respiratory insufficiency, Short foot, Short long bone, Short palm, Short ribs, Short stature, Short thorax, Skeletal dysplasia, Syndactyly, Thoracic dysplasia, Urethrovaginal fistula, Uterus didelphys, Ventricular septal defect, Wide nose
Choroid	RAB11FIP1	1.237186175	0.001724987	GTPase activating protein	BrainSpLMD|80223	OMIM|608737
Choroid	STK39	0.695885288	0.001739347	Serine/threonine kinase	BrainSpLMD|27347	SFARI||Autism, 4 - Minimal evidence;OMIM|607648
Choroid	NAT9	3.014794247	0.001743513	Enzyme: Acyltransferase	BrainSpLMD|26151;Eurexp|euxassay_006604|embryo	
Choroid	HSPA8P9	0.294119451	0.001750743			
Choroid	GCLM	1.21409517	0.001757861	Enzyme: Ligase	BrainSpLMD|2730;Eurexp|euxassay_018515|left, right	OMIM|601176
Choroid	FHAD1	3.067541589	0.001780911	Unclassified	Eurexp|euxassay_005373|4th ventricle, choroid plexus, mantle layer, olfactory, ventral grey horn, ventricular layer	
Choroid	C14orf119	2.072122712	0.001799975	Unclassified		
Choroid	OAZ1	0.933863963	0.0018168	Unclassified	BrainSpLMD|4946	OMIM|601579
Choroid	SNAPC1	1.109942206	0.001817328	Transcription regulatory protein	BrainSpLMD|6617	OMIM|600591
Choroid	MRPS16	0.685903335	0.001817557	Ribosomal subunit	BrainSpLMD|51021	OMIM|609204;HPO|51021|Abnormal facial shape, Agenesis of corpus callosum, Autosomal recessive inheritance, Brachydactyly, Congenital onset, Edema, Elevated hepatic transaminases, Feeding difficulties in infancy, Heterogeneous, Hypokinesia, Increased serum lactate, Lactic acidosis, Lethargy, Low-set ears, Neonatal hypotonia, Patent ductus arteriosus, Redundant neck skin, Small for gestational age, Ventriculomegaly
Choroid	TBC1D8B	4.387107736	0.001836916	Unclassified	BrainSpLMD|54885	
Choroid	RP4.706A16.3	0.87873088	0.001839408			
Choroid	GCSH	0.279921679	0.001847648	Enzyme: Transferase	Eurexp|euxassay_005077|axial muscle, calyces, mantle layer, olfactory, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|238330;HPO|2653|Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Death in infancy, Encephalopathy, Generalized hypotonia, Hyperactivity, Hyperglycinemia, Hyperglycinuria, Hyperreflexia, Impulsivity, Intellectual disability, Irritability, Lethargy, Myoclonus, Recurrent singultus, Restlessness, Seizures
Choroid	ANKEF1	1.62841573	0.001857815	Calcium binding protein;Unclassified	BrainSpLMD|63926	
Choroid	MT.TK	0.253041406	0.001871471			
Choroid	AC007969.5	0.967626014	0.001875294			
Choroid	OCLN	3.515029797	0.001877329		Eurexp|euxassay_018589|embryo	OMIM|602876;HPO|100506658|Abnormality of movement, Anteverted nares, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral calcification, Cerebral cortical atrophy, Decreased liver function, Elevated hepatic transaminases, Failure to thrive, Global developmental delay, Hepatomegaly, High palate, Hyperreflexia, Increased CSF protein, Intellectual disability, profound, Jaundice, Lissencephaly, Long philtrum, Low-set ears, Microcephaly, Microretrognathia, Muscular hypotonia of the trunk, Nystagmus, Pachygyria, Petechiae, Phenotypic variability, Polymicrogyria, Seizures, Sloping forehead, Spasticity, Splenomegaly, Thrombocytopenia, Ventriculomegaly
Choroid	CTAGE5	0.270560387	0.001885857	Unclassified	BrainSpLMD|4253	OMIM|602132
Choroid	CDK7	1.833150379	0.00189441	Serine/threonine kinase	BrainSpLMD|1022	OMIM|601955
Choroid	EFR3A	2.23423433	0.001914384	Unclassified		SFARI||Autism, 3 - Suggestive evidence;OMIM|611798
Choroid	RABAC1	1.098391363	0.001925976	GTPase activating protein	BrainSpLMD|10567;Eurexp|euxassay_000239|dorsal root ganglion, facial VII, glossopharyngeal IX, medulla oblongata, metencephalon, spinal, spinal cord, trigeminal V, vagus X	OMIM|604925
Choroid	DSG2	2.524683095	0.001928112	Adhesion molecule	BrainSpLMD|1829;Eurexp|euxassay_013590|bladder, calyces, epidermal component, epidermis, epithelium, incisor, larynx, left lung, midgut, molar, naso-lacrimal duct, olfactory, oral epithelium, pancreas, pelvis, pharyngo-tympanic tube, rectum, right lung, stomach, submandibular gland primordium, thymus primordium, thyroid, urethra, vibrissa	OMIM|125671;HPO|1829|Autosomal dominant inheritance, Dilated cardiomyopathy, Heterogeneous, Palpitations, Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular extrasystoles, Ventricular tachycardia
Choroid	FAM188B	1.87863841	0.001950455			
Choroid	YBX3	0.394817014	0.001975967	DNA binding protein	BrainSpLMD|8531	OMIM|603437
Choroid	TIMP1	1.884492547	0.001978508	Extracellular matrix protein	BrainSpLMD|7076;Eurexp|euxassay_000782|Meckel's cartilage, axial skeleton, chondrocranium, molar	OMIM|305370
Choroid	SERPINF1	0.382635678	0.002003853	Serine protease	BrainSpLMD|5176;Eurexp|euxassay_018445|cardiovascular system, gland, integumental system, limb, liver and biliary system, meninges, mesenchyme, reproductive system, skeleton, tail, vertebral axis muscle system, visceral organ	OMIM|172860;HPO|5176|Autosomal recessive inheritance, Beaking of vertebral bodies, Biconcave vertebral bodies, Coxa vara, Increased susceptibility to fractures, Joint laxity, Protrusio acetabuli, Vertebral compression fractures
Choroid	STT3A	0.335132036	0.002012496	Integral membrane protein	BrainSpLMD|3703;Eurexp|euxassay_004591|clavicle, mandible, maxilla, orbito-sphenoid, rib, turbinate bones	OMIM|601134;HPO|3703|Abnormal glycosylation, Autosomal recessive inheritance, Cerebellar atrophy, Congenital onset, Cryptorchidism, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Impaired smooth pursuit, Intellectual disability, Microcephaly, Micropenis, Scrotal hypoplasia, Seizures
Choroid	PHPT1	1.021940291	0.002031577	Enzyme: Phosphatase	BrainSpLMD|29085	OMIM|610167
Choroid	PRDM16	0.395185737	0.002037454	Transcription factor	BrainSpLMD|63976	OMIM|605557;COSMIC||MDS, AML;HPO|63976|Abnormal morphology of the left ventricle, Absent speech, Agenesis of corpus callosum, Autism, Autosomal dominant inheritance, Brachycephaly, Brachydactyly, Camptodactyly of finger, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Congestive heart failure, Constipation, Deeply set eye, Delayed cranial suture closure, Depressed nasal bridge, Depressed nasal ridge, Dilated cardiomyopathy, Dysphagia, EEG abnormality, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Gait disturbance, Gastroesophageal reflux, Global developmental delay, High-grade hypermetropia, Horizontal eyebrow, Intellectual disability, Left ventricular noncompaction, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Midface retrusion, Muscular hypotonia, Narrow mouth, Pointed chin, Poor speech, Seizures, Self-injurious behavior, Short foot, Stereotypy, Strabismus, Ventriculomegaly, Wide nasal bridge
Choroid	CBFB	0.470379175	0.002077214	Transcription factor	BrainSpLMD|865	OMIM|121360;COSMIC||AML
Choroid	B4GALT6	1.948041565	0.002113094	Enzyme: Galactosyltransferase	BrainSpLMD|9331;Eurexp|euxassay_008280|brain, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, midgut, pancreas, pelvis, rectum, spinal cord, stomach, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|604017
Choroid	CCDC171	1.007436349	0.002114252	Unclassified	BrainSpLMD|203238;Eurexp|euxassay_016011|olfactory, trigeminal V	
Choroid	PYROXD2	1.119414497	0.002122165	Enzyme: Oxidase	BrainSpLMD|84795	
Choroid	GPX7	2.510008511	0.002136162	Enzyme: Peroxidase	BrainSpLMD|2882;Eurexp|euxassay_018909|alimentary system, alveolar sulcus, anterior, arachnoid mater, associated mesenchyme, axial skeleton, central nervous system, cerebral cortex, cervical region, choroid invagination, choroid plexus, clavicle, dermal component, dermis, duodenum, dura mater, embryo, epidermal component, epidermis, epithelium, external, foregut, foregut-midgut junction, fundus, gut, hindgut, intervertebral disc, intrinsic, lip, lower jaw, lumbar region, mandible, masseter, meninges, mesenchyme, midgut, naris, nasal cavity, nose, nucleus pulposus, olfactory, palatal shelf, pectoral girdle and thoracic body wall, physiological umbilical hernia, pia mater, pineal primordium, respiratory, rest of midgut, rest of skin, rib, rostral part, scapula, skeleton, stomach, temporal bone, thoracic region, transverse component, turbinate bones, upper jaw, vertebral axis muscle system, vertebral cartilage condensation, vertical component, vibrissa, visceral organ	OMIM|615784
Choroid	NPY1R	1.360539817	0.002181261	G protein coupled receptor	BrainSpLMD|4886;Eurexp|euxassay_010087|dorsal grey horn, dorsal root ganglion, mantle layer, trigeminal V;BrainSpMouseDev|17933	OMIM|162641
Choroid	CTD.3162L10.1	0.470011268	0.002208468			
Choroid	NARS2	1.807483156	0.002222707	Enzyme: Ligase	BrainSpLMD|79731	OMIM|612803;HPO|79731|Agenesis of corpus callosum, Autosomal recessive inheritance, Cortical visual impairment, Elevated serum creatine phosphokinase, Facial palsy, Feeding difficulties, Focal segmental glomerulosclerosis, Generalized hypotonia, Gliosis, Increased serum lactate, Microcephaly, Muscular hypotonia, Myopathy, Neurodegeneration, Neuronal loss in central nervous system, Nystagmus, Optic atrophy, Phenotypic variability, Proximal muscle weakness, Ptosis, Skeletal muscle atrophy, Spasticity
Choroid	STK36	1.409669019	0.002245335	Serine/threonine kinase	BrainSpLMD|27148;Eurexp|euxassay_012083|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, rib, scapula, temporal bone, tibia, turbinate	OMIM|607652
Choroid	HSP90B2P	1.405519535	0.00224835			
Choroid	RPS7	1.394586575	0.002272032	Ribosomal subunit		OMIM|603658;HPO|6201|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Cleft palate, Delayed puberty, Fatigue, Hypertelorism, Macrocytic anemia, Migraine, Neutropenia, Pallor, Short nose, Short stature, Thick upper lip vermilion, Wide nasal bridge
Choroid	RPL18A	0.754452713	0.002286958	RNA binding protein		OMIM|604178
Choroid	PPID	1.463908984	0.002292569	Enzyme: Isomerase	BrainSpLMD|5481;Eurexp|euxassay_005718|embryo	OMIM|601753
Choroid	LYPLA2	0.699974868	0.002312056	Enzyme: Phospholipase	BrainSpLMD|11313;Eurexp|euxassay_000279|dorsal root ganglion, trigeminal V	OMIM|616143
Choroid	B4GALT1	1.274176506	0.002315137	Enzyme: Galactosyltransferase	BrainSpLMD|2683	OMIM|137060;HPO|2683|Abnormality of coagulation, Autosomal recessive inheritance, Dandy-Walker malformation, Elevated serum creatine phosphokinase, Generalized hypotonia, Global developmental delay, Hydrocephalus, Macrocephaly, Muscular hypotonia, Myopathy
Choroid	ARL4A	1.551905838	0.00232428	GTPase	BrainSpLMD|10124;Eurexp|euxassay_007257|lung, mandible, mantle layer, maxilla, meninges, oesophagus, urethra, vertebral axis muscle system	OMIM|604786
Choroid	TMEM98	1.936530242	0.002396023	Integral membrane protein	BrainSpLMD|26022	OMIM|615949;HPO|26022|Abnormality of the choroid, Autosomal dominant inheritance, Glaucoma, High-grade hypermetropia, Microphthalmia, Strabismus
Choroid	PDIA6	2.125731285	0.002406147	Enzyme: Isomerase	BrainSpLMD|10130	OMIM|611099
Choroid	UQCR10	0.976483533	0.002418219	Enzyme: Oxidoreductase	BrainSpLMD|29796;Eurexp|euxassay_001948|Meckel's cartilage, adrenal gland, cortex, dorsal root ganglion, foregut-midgut junction, frontal bone primordium, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, ventral grey horn, vertebral axis muscle system, vibrissa	OMIM|610843
Choroid	MAP7D3	0.809017643	0.002428481	Unclassified		OMIM|300930
Choroid	CPNE2	2.804103832	0.002462418	Transport/cargo protein	BrainSpLMD|221184;Eurexp|euxassay_001619|choroid plexus, marginal layer, ventricular layer;BrainSpMouseDev|87854	OMIM|604206
Choroid	MYO10	1.098958741	0.002481714	Motor protein	BrainSpLMD|4651;Eurexp|euxassay_009373|mantle layer, marginal layer, thymus primordium, trigeminal V, ventricular layer	OMIM|601481
Choroid	TEX264	2.460849356	0.002489121	Secreted polypeptide	BrainSpLMD|51368	
Choroid	KIAA1217	0.764464982	0.00250493	Unclassified	BrainSpLMD|56243;Eurexp|euxassay_002039|ventricular layer	OMIM|617367
Choroid	AC013463.2	1.670280063	0.002527395			
Choroid	BTG3	1.503019904	0.002552691	Cell cycle control protein	BrainSpLMD|10950	OMIM|605674
Choroid	DPY30	1.114858413	0.002552954	Unclassified	BrainSpLMD|84661;Eurexp|euxassay_011324|cortex, incisor, left lung, liver, midgut, molar, olfactory, pancreas, right lung, stomach, submandibular gland primordium, thymus primordium, thyroid, vomeronasal organ	OMIM|612032
Choroid	B3GAT3	2.529884039	0.002560157	Integral membrane protein	BrainSpLMD|26229	OMIM|606374;HPO|26229|Accelerated skeletal maturation, Amblyopia, Aortic root dilatation, Autosomal recessive inheritance, Bicuspid aortic valve, Bilateral elbow dislocations, Brachycephaly, Broad distal phalanges of all fingers, Cardiomegaly, Cleft palate, Congenital glaucoma, Cutis laxa, Depressed nasal bridge, Downslanted palpebral fissures, Elbow flexion contracture, Enlarged metaphyses, Esotropia, Frontal bossing, Hip dislocation, Hydrocephalus, Hypermetropia, Hypertelorism, Joint laxity, Knee dislocation, Large eyes, Left ventricular hypertrophy, Low posterior hairline, Low-set ears, Metatarsus adductus, Microdontia, Microtia, Midface retrusion, Mitral valve prolapse, Multiple joint dislocation, Narrow chest, Narrow mouth, Osteopenia, Patent foramen ovale, Pes planus, Prominent forehead, Radioulnar synostosis, Scoliosis, Short neck, Small face, Spatulate thumbs, Talipes equinovalgus, Talipes equinovarus, Thick eyebrow
Choroid	TMEM106C	1.460503402	0.002561642	Unclassified	BrainSpLMD|79022	
Choroid	PSMD10	1.640891444	0.002579231	Regulatory/other subunit	BrainSpLMD|5716	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300880
Choroid	C12orf76	0.558808712	0.002625265	Unclassified	BrainSpLMD|400073	
Choroid	MRFAP1	1.288125297	0.002657074	Adapter molecule	BrainSpLMD|93621	OMIM|616905
Choroid	UQCRB	0.493157642	0.002674042	Enzyme: Reductase	BrainSpLMD|7381;Eurexp|euxassay_002757|basal plate, dorsal root ganglion, epidermal component, lung, trigeminal V, vagus X, ventricular layer	OMIM|191330;HPO|7381|Autosomal recessive inheritance, Hypoglycemia, Metabolic acidosis
Choroid	PM20D2	0.580733893	0.00267628	Metallo protease		OMIM|615913
Choroid	LRRC34	2.027621139	0.002681738	Unclassified	BrainSpLMD|151827;Eurexp|euxassay_014093|choroid plexus	
Choroid	OST4	1.147414837	0.002722469	-	Eurexp|euxassay_002153|Meckel's cartilage, orbito-sphenoid	
Choroid	C11orf83	1.305713507	0.002735569			
Choroid	ANLN	1.50413519	0.00273613	Structural protein	BrainSpLMD|54443;Eurexp|euxassay_004352|ventricular layer	OMIM|616027;HPO|54443|Autosomal dominant inheritance, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease
Choroid	GPI	0.853346246	0.002738195	Enzyme: Isomerase	BrainSpLMD|2821	OMIM|172400;HPO|2821|Ataxia, Autosomal recessive inheritance, Cholecystitis, Decreased glucosephosphate isomerase activity, Impaired neutrophil bactericidal activity, Intellectual disability, Jaundice, Muscle weakness, Nonspherocytic hemolytic anemia, Pigment gallstones, Sensory ataxia, Splenomegaly, Spontaneous hemolytic crises
Choroid	NDUFA11	1.189055636	0.002750166	Enzyme: Oxidoreductase	BrainSpLMD|126328	OMIM|612638;HPO|126328|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
Choroid	PBXIP1	0.398371347	0.002764751	Transcription regulatory protein	BrainSpLMD|57326;Eurexp|euxassay_012529|choroid invagination, choroid plexus, diaphragm, floor plate, floorplate, midgut, skeletal muscle, stomach, ventricle, ventricular layer;BrainSpMouseDev|86886	
Choroid	MCFD2	0.931031753	0.002773344	Unclassified	BrainSpLMD|90411;Eurexp|euxassay_000692|Meckel's cartilage, chondrocranium, incisor, molar	OMIM|607788;HPO|90411|Autosomal recessive inheritance, Epistaxis, Menorrhagia, Persistent bleeding after trauma, Reduced factor V activity, Reduced factor VIII activity
Choroid	RPS18	0.591816853	0.002776843	Ribosomal subunit	BrainSpLMD|6222	OMIM|180473
Choroid	EML4	0.61726379	0.002786139	Structural protein	BrainSpLMD|27436	OMIM|607442;COSMIC||NSCLC
Choroid	SPICE1	0.571638921	0.002824135	Unclassified	BrainSpLMD|152185;Eurexp|euxassay_006294|adenohypophysis, neurohypophysis, olfactory, respiratory, testis, thymus primordium, ventricular layer	OMIM|613447
Choroid	ERLIN2	1.077129335	0.002847953	Unclassified	BrainSpLMD|11160	OMIM|611605;HPO|11160|Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Absent speech, Autosomal recessive inheritance, Babinski sign, Dysphagia, Gait disturbance, Gait imbalance, High palate, Hyperreflexia, Kyphosis, Loss of speech, Lower limb muscle weakness, Muscle weakness, Pes cavus, Progressive, Pseudobulbar behavioral symptoms, Scoliosis, Skeletal muscle atrophy, Slow progression, Spastic dysarthria, Spastic gait, Spastic paraplegia, Spastic tetraparesis, Strabismus, Upper limb spasticity
Choroid	TRIP11	0.376371629	0.002859075	Ligand	BrainSpLMD|9321	OMIM|604505;COSMIC||AML;HPO|9321|Abdominal distention, Abnormal enchondral ossification, Abnormal foot bone ossification, Abnormal hand bone ossification, Abnormality of the femoral metaphysis, Anteverted nares, Aplasia/Hypoplasia of the lungs, Autosomal recessive inheritance, Barrel-shaped chest, Beaded ribs, Broad clavicles, Decreased skull ossification, Depressed nasal bridge, Disproportionate short-trunk short stature, Femoral hernia, Flat face, Frontal bossing, Hydrops fetalis, Hypoplasia of the radius, Hypoplastic ischia, Hypoplastic scapulae, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Multiple rib fractures, Narrow chest, Polyhydramnios, Protuberant abdomen, Recurrent fractures, Severe short stature, Short clavicles, Short foot, Short neck, Short nose, Short palm, Short ribs, Short thorax, Stillbirth, Thickened nuchal skin fold, Umbilical hernia, Unossified vertebral bodies
Choroid	CDS1	0.665433422	0.002890331	Enzyme: Nucleotidyltransferase	BrainSpLMD|1040;Eurexp|euxassay_002822|4th ventricle, adrenal gland, axial muscle, basal plate, bladder, calyces, choroid plexus, dorsal root ganglion, epidermis, hindgut, laryngeal, lateral recess, mantle layer, olfactory, pelvis, rectum, submandibular gland primordium, thymus primordium, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|50437	OMIM|603548
Choroid	ITPA	1.242822711	0.002903664	Enzyme: Hydrolase	BrainSpLMD|3704	OMIM|147520;HPO|3704|Autosomal recessive inheritance, Brain atrophy, Cerebral atrophy, Death in infancy, Delayed CNS myelination, Encephalopathy, High pitched voice, Infantile onset, Intrauterine growth retardation, Irritability, Limb tremor, Severe muscular hypotonia, Status epilepticus
Choroid	RNF7	1.320288686	0.002933477	Enzyme: Ligase	BrainSpLMD|9616	OMIM|603863
Choroid	CEBPZOS	0.507026578	0.002961628			
Choroid	AGBL2	2.161550165	0.003003892	Unclassified	BrainSpLMD|79841	OMIM|617345
Choroid	SDHDP6	1.984433315	0.003015372			
Choroid	ATP5A1	0.815382488	0.003033396			
Choroid	UQCRC1	0.964262823	0.003037528	Enzyme: Reductase	BrainSpLMD|7384;Eurexp|euxassay_018647|axial muscle, bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, mantle layer, metanephros, right lung, submandibular gland primordium, trigeminal V, vagus X, ventral grey horn, vibrissa	OMIM|191328
Choroid	NUDT2	2.742787329	0.003058707	Enzyme: Hydrolase	BrainSpLMD|318;Eurexp|euxassay_005082|ventricular layer	OMIM|602852
Choroid	SLC12A2	0.455822767	0.003122442	Membrane transport protein	BrainSpLMD|6558;Eurexp|euxassay_008837|cortex, incisor, left lung, midgut, olfactory, pharyngo-tympanic tube, rectum, right lung, stomach, submandibular gland primordium;BrainSpMouseDev|20258	OMIM|600840
Choroid	KRCC1	0.620703315	0.003128451	Unclassified	BrainSpLMD|51315	
Choroid	DOCK8	0.375643121	0.003195198	Guanine nucleotide exchange factor	BrainSpLMD|81704;Eurexp|euxassay_013103|thymus primordium	SFARI||Autism, 3 - Suggestive evidence;OMIM|611432;HPO|81704|Asthma, Atopic dermatitis, Autosomal dominant inheritance, Autosomal recessive inheritance, B lymphocytopenia, Cerebral vasculitis, Chronic otitis media, Decrease in T cell count, Delayed speech and language development, Eczema, Eosinophilia, Global developmental delay, Hemiplegia, Increased IgE level, Infantile onset, Intellectual disability, Neoplasm, Onychomycosis, Pneumonia, Recurrent bacterial infections, Recurrent bacterial skin infections, Recurrent candida infections, Recurrent fungal infections, Recurrent sinopulmonary infections, Recurrent sinusitis, Recurrent viral infections, Severe viral infections, Skin ulcer, Subarachnoid hemorrhage, Verrucae
Choroid	UCP2	1.802861686	0.003213177	Transport/cargo protein	BrainSpLMD|7351;Eurexp|euxassay_010584|liver, olfactory, vibrissa, vomeronasal organ	OMIM|601693;HPO|7351|Abnormality of fatty-acid metabolism, Coma, Diarrhea, Hepatomegaly, Hyperhidrosis, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Neonatal hypoglycemia, Pallor, Pancreatic islet-cell hyperplasia, Progressive neurologic deterioration, Tachycardia, Vomiting
Choroid	RPS17L	0.713150349	0.003231638			
Choroid	RP11.12G12.7	1.417967724	0.003234327			
Choroid	RPS27A	0.785461333	0.003280366	Ubiquitin proteasome system protein		OMIM|191343
Choroid	SLC29A4	0.625219725	0.003386919	Membrane transport protein	BrainSpLMD|222962;Eurexp|euxassay_015715|choroid plexus;BrainSpMouseDev|89066	SFARI||Autism, No category;OMIM|609149
Choroid	GSTM3	0.997694586	0.003409816	Enzyme: Glutathione transferase	BrainSpLMD|2947;Eurexp|euxassay_018935|atrio-ventricular canal, axial muscle, basioccipital bone, basisphenoid bone, brain, central nervous system, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, labyrinth, lens, liver, mantle layer, nasal septum, neural retina, nucleus pulposus, olfactory, orbito-sphenoid, otic capsule, renal/urinary system, sphenoid, spinal cord, testis, trigeminal V, turbinate bones, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|138390
Choroid	PDPN	1.640348864	0.003438738	Water channel	BrainSpLMD|10630;Eurexp|euxassay_002001|axial skeleton, submandibular gland primordium, ventricular layer;BrainSpMouseDev|14502	OMIM|608863
Choroid	BAG6	1.651180417	0.003459902	Unclassified;MHC complex protein	BrainSpLMD|7917	OMIM|142590
Choroid	GSTK1	1.384168443	0.003467733	Enzyme: Glutathione transferase	BrainSpLMD|373156	OMIM|602321
Choroid	COX8A	1.509956498	0.00347001	Enzyme: Oxidoreductase	BrainSpLMD|1351	OMIM|123870
Choroid	NDUFV2P1	0.500112956	0.003484648			
Choroid	C1QTNF4	1.195760743	0.003552937	Unclassified	BrainSpLMD|114900	OMIM|614911
Choroid	HIPK1	0.943625695	0.003570289	Serine/threonine kinase	BrainSpLMD|204851	OMIM|608003
Choroid	SLC31A1	2.363465076	0.00361381	Transport/cargo protein	BrainSpLMD|1317;Eurexp|euxassay_004933|cervical, cervico-thoracic, choroid invagination, choroid plexus, incisor, medulla, roof plate, thoracic	OMIM|603085
Choroid	GSTO2	2.798246205	0.003633971	Enzyme: Glutathione transferase	BrainSpLMD|119391	OMIM|612314
Choroid	ENO1	1.346031766	0.003667983	Enzyme: Hydratase	BrainSpLMD|2023	OMIM|172430
Choroid	MT.TV	0.804463886	0.003671078			
Choroid	MAP9	0.476556931	0.00368633	Unclassified	BrainSpLMD|79884	OMIM|610070
Choroid	FSTL1	1.307878266	0.003694475	Protease inhibitor	Eurexp|euxassay_003685|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail;BrainSpMouseDev|14090	OMIM|605547
Choroid	RPSAP15	0.62856895	0.003710143			
Choroid	EIF3F	0.435976404	0.003727242	Translation regulatory protein		OMIM|603914
Choroid	PSPH	0.948478986	0.003740765	Serine/threonine phosphatase	BrainSpLMD|5723;Eurexp|euxassay_007810|calyces, left, right, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|172480;HPO|5723|Autosomal recessive inheritance, Global developmental delay, Hypertonia, Infantile onset, Intellectual disability, Intrauterine growth retardation, Postnatal growth retardation, Seizures
Choroid	RPL41P5	0.684655124	0.003743756			
Choroid	TMED9	1.846755383	0.003748274	Unclassified		
Choroid	MKKS	1.002776458	0.003768659	Chaperone	BrainSpLMD|8195	OMIM|604896;HPO|8195|Abnormal electroretinogram, Abnormality of cardiovascular system morphology, Aganglionic megacolon, Anal atresia, Asthma, Ataxia, Autosomal recessive inheritance, Biliary tract abnormality, Brachydactyly, Broad foot, Congenital hip dislocation, Congenital primary aphakia, Cryptorchidism, Decreased testicular size, Delayed speech and language development, Dental crowding, Diabetes mellitus, Edema, Edema of the lower limbs, External genital hypoplasia, Foot polydactyly, Gait imbalance, Glandular hypospadias, Global developmental delay, Hepatic fibrosis, High, narrow palate, Hirsutism, Hydrometrocolpos, Hydronephrosis, Hydroureter, Hypertension, Hypodontia, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypospadias, Intellectual disability, Left ventricular hypertrophy, Mesoaxial hand polydactyly, Multicystic kidney dysplasia, Nephrogenic diabetes insipidus, Neurological speech impairment, Nystagmus, Obesity, Pigmentary retinopathy, Polycystic kidney dysplasia, Polydactyly, Poor coordination, Postaxial hand polydactyly, Pulmonary hypoplasia, Radial deviation of finger, Rectovaginal fistula, Renal cyst, Retinal degeneration, Rod-cone dystrophy, Short foot, Short stature, Specific learning disability, Strabismus, Syndactyly, Transverse vaginal septum, Urogenital sinus anomaly, Vaginal atresia, Vesicovaginal fistula
Choroid	ERO1L	0.716930201	0.003798916			
Choroid	PHB	1.607129333	0.003850293	Adapter molecule	BrainSpLMD|5245	SFARI||Autism, 3 - Suggestive evidence;OMIM|176705
Choroid	HSP90AB1	0.809415888	0.00385596	Chaperone	BrainSpLMD|3326	OMIM|140572;COSMIC||NHL
Choroid	SLC12A7	2.449559718	0.003902832	Membrane transport protein	BrainSpLMD|10723;Eurexp|euxassay_009467|trigeminal V, vestibulocochlear VIII	OMIM|604879
Choroid	EMX2OS	1.592910764	0.003908156			OMIM|607637
Choroid	CYP39A1	1.525249972	0.003918711	Enzyme: Oxygenase	BrainSpLMD|51302;BrainSpMouseDev|35335	OMIM|605994
Choroid	PLEKHH2	1.079282565	0.003937557	Cytoskeletal protein	BrainSpLMD|130271	OMIM|612723
Choroid	ATP5G3	1.072394823	0.003945333			
Choroid	OSTC	1.022163257	0.003952128	Integral membrane protein	BrainSpLMD|58505;Eurexp|euxassay_003969|Meckel's cartilage, clavicle, cranium, rib, turbinate	
Choroid	MPV17	0.832616808	0.003968912	Integral membrane protein	BrainSpLMD|4358	OMIM|137960;HPO|4358|Abnormality of the foot, Abnormality of the immune system, Acral ulceration and osteomyelitis leading to autoamputation of digits, Acute hepatic failure, Areflexia, Ataxia, Autosomal recessive inheritance, Cirrhosis, Decreased number of peripheral myelinated nerve fibers, Diarrhea, Distal muscle weakness, Dystonia, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hypoglycemia, Hyporeflexia, Increased susceptibility to fractures, Infantile onset, Lactic acidosis, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Nystagmus, Osteomyelitis leading to amputation due to slow healing fractures, Pain insensitivity, Painless fractures due to injury, Phenotypic variability, Progressive, Prolonged neonatal jaundice, Recurrent corneal erosions, Reye syndrome-like episodes, Sensorimotor neuropathy, Short stature, Vomiting
Choroid	DLC1	1.812596373	0.004017715	GTPase activating protein	BrainSpLMD|10395;Eurexp|euxassay_013403|axial skeleton, mandible, mantle layer, roof plate, trigeminal V, ventricular layer	OMIM|604258;HPO|10395|Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma
Choroid	MT.ND5	0.722244655	0.004029576			
Choroid	ISYNA1	1.312267795	0.004061554	Enzyme: Isomerase	BrainSpLMD|51477	OMIM|611670
Choroid	RPS14P3	1.449694883	0.004150159			
Choroid	RP11.864N7.2	0.484991212	0.004167963			
Choroid	ATP1B2	0.397097824	0.004181835	ATPase	BrainSpLMD|482;Eurexp|euxassay_011653|lobe, pituitary, ventral grey horn, ventricular layer;BrainSpMouseDev|11718	OMIM|182331
Choroid	SUCLG2	1.922750672	0.004250145	Enzyme: Ligase	BrainSpLMD|8801;Eurexp|euxassay_018982|hindgut, incisor, liver, lung, mandible, mantle layer, maxilla, metanephros, midgut, molar, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, pituitary, stomach, submandibular gland primordium, thymus primordium, thyroid, urethra, ventricular layer, vertebral axis muscle system, vibrissa	SFARI||Autism, 6 - Evidence does not support role;OMIM|603922
Choroid	GNS	1.95802353	0.004260237	Enzyme: Sulphatase	BrainSpLMD|2799;Eurexp|euxassay_017749|floor plate, floorplate	OMIM|607664;HPO|2799|Absent speech, Anteverted nares, Asymmetric septal hypertrophy, Autosomal recessive inheritance, Cellular metachromasia, Coarse facial features, Coarse hair, Depressed nasal bridge, Diarrhea, Drooling, Dysarthria, Dysostosis multiplex, Dysphagia, Flexion contracture, Frontal bossing, Growth abnormality, Hearing impairment, Heparan sulfate excretion in urine, Hepatomegaly, Hirsutism, Hyperactivity, Intellectual disability, Joint stiffness, Low-set ears, Ovoid thoracolumbar vertebrae, Progressive, Prominent forehead, Recurrent upper respiratory tract infections, Seizures, Short neck, Sleep disturbance, Splenomegaly, Synophrys, Thick eyebrow, Thick lower lip vermilion, Thickened ribs, Wide mouth
Choroid	LINC00467	3.001312326	0.004284671	Unclassified	BrainSpLMD|84791	
Choroid	TPM1	1.371304969	0.004299771	Cytoskeletal associated protein	BrainSpLMD|7168;Eurexp|euxassay_009503|atrium, axial skeleton, bladder, choroid plexus, diaphragm, extrinsic ocular muscle, hindgut, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, liver, lung, mantle layer, mesenchyme, metanephros, midgut, nasal septum, skeletal muscle, skin, stomach, ventral grey horn, ventricle, vertebral axis muscle system, vibrissa	OMIM|191010;HPO|7168|Autosomal dominant inheritance, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular tachycardia
Choroid	TMEM147	2.110218474	0.004313269	Integral membrane protein	BrainSpLMD|10430	OMIM|613585
Choroid	FRMD8	1.791732589	0.004338351	Cytoskeletal associated protein	BrainSpLMD|83786;Eurexp|euxassay_012085|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, otic capsule, pelvic girdle, rib, scapula, temporal bone, tibia, turbinate	
Choroid	MRPS26	0.439495561	0.004344104	Ribosomal subunit	BrainSpLMD|64949	OMIM|611988
Choroid	ITPKB	0.776353879	0.004346606	Lipid Kinase	BrainSpLMD|3707;Eurexp|euxassay_009586|bladder, liver	OMIM|147522
Choroid	SRPRB	0.926749254	0.004371513	GTPase	BrainSpLMD|58477;Eurexp|euxassay_010365|basioccipital bone, clavicle, femur, humerus, mandible, maxilla, naris, orbito-sphenoid, rib, sternum, tibia, turbinate bones	OMIM|616883
Choroid	STOML2	1.811601863	0.004386904	Membrane transport protein	BrainSpLMD|30968	OMIM|608292
Choroid	GNB3	2.038407161	0.004403181	G protein	BrainSpLMD|2784;Eurexp|euxassay_002925|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X	OMIM|139130;HPO|2784|Autosomal recessive inheritance, Nyctalopia, Photophobia
Choroid	FAM154B	1.502555745	0.004434723			
Choroid	TMEM104	0.387790532	0.004533355	Membrane transport protein	BrainSpLMD|54868	
Choroid	TCF7	2.416348601	0.004547765	Transcription factor	BrainSpLMD|6932;BrainSpMouseDev|21175	OMIM|189908
Choroid	RP11.418J17.1	1.507942805	0.004579698			
Choroid	RP11.356K23.1	0.546239603	0.00462789			
Choroid	GRAMD1B	0.312452523	0.004628029	Integral membrane protein	BrainSpLMD|57476;Eurexp|euxassay_016918|medulla, testis	
Choroid	DPM3	1.732993775	0.0046934	Enzyme: Synthase	BrainSpLMD|54344	OMIM|605951;HPO|54344|Autosomal recessive inheritance, Dilated cardiomyopathy, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Increased variability in muscle fiber diameter, Muscle weakness, Rimmed vacuoles, Type I transferrin isoform profile, Waddling gait
Choroid	TRAPPC8	1.635679271	0.00473154	Transport/cargo protein	BrainSpLMD|22878	OMIM|614136
Choroid	KIF22	0.542678268	0.004743101	DNA binding protein	BrainSpLMD|3835	OMIM|603213;HPO|3835|Abnormal calcification of the carpal bones, Abnormality of the patella, Abnormality of the sacrum, Anteverted nares, Autosomal dominant inheritance, Broad distal phalanx of finger, Carpal bone hypoplasia, Caudal interpedicular narrowing, Congenital hip dislocation, Delayed patellar ossification, Delayed phalangeal epiphyseal ossification, Depressed nasal bridge, Dislocated radial head, Enlarged thorax, Flared metaphysis, Flat capital femoral epiphysis, Frontal bossing, Generalized hypotonia, Genu valgum, Global developmental delay, Hip dislocation, Hypoplasia of the capital femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Joint laxity, Kyphosis, Large joint dislocations, Laryngeal stenosis, Laryngotracheomalacia, Long distal phalanx of finger, Long proximal phalanx of finger, Macrocephaly, Malar flattening, Metaphyseal irregularity, Micromelia, Midface retrusion, Nail dysplasia, Narrow femoral neck, Osteoarthritis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Short nose, Short stature, Skeletal dysplasia, Slender distal phalanx of finger, Slender metacarpals, Slender proximal phalanx of finger, Small epiphyses, Soft skin, Spinal dysraphism, Spondyloepimetaphyseal dysplasia, Streaky metaphyseal sclerosis, Wide nose
Choroid	LMAN2	2.120828721	0.004765738	Transport/cargo protein	BrainSpLMD|10960	OMIM|609551
Choroid	YAP1	1.370002795	0.004773337	Transcription regulatory protein	BrainSpLMD|10413	OMIM|606608;HPO|10413|Autosomal dominant inheritance, Bilateral cleft lip and palate, Chorioretinal coloboma, Hematuria, Intellectual disability, Iris coloboma, Microphthalmia, Sensorineural hearing impairment
Choroid	RPL7P52	0.939796702	0.004799592			
Choroid	SCOC	0.328277828	0.00482315	Unclassified	BrainSpLMD|60592;Eurexp|euxassay_002885|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X	
Choroid	DNAJB14	0.50889151	0.004836777	Chaperone	BrainSpLMD|79982	OMIM|617487
Choroid	RPL32	0.832713473	0.004859594	Ribosomal subunit		
Choroid	NGRN	0.629427564	0.004880658	Unclassified		OMIM|616718
Choroid	MYADM	0.645838286	0.004897257	Unclassified	BrainSpLMD|91663;Eurexp|euxassay_004288|femur, footplate, forelimb, hindlimb, mesenchyme, tail	OMIM|609959
Choroid	TSPAN6	1.524037126	0.004904047	Cell surface receptor	BrainSpLMD|7105;Eurexp|euxassay_004870|incisor, mandible, maxilla, molar	OMIM|300191
Choroid	SNRPD2	0.924152582	0.004908537	RNA binding protein	BrainSpLMD|6633;Eurexp|euxassay_007040|embryo	OMIM|601061
Choroid	USP46	1.753560941	0.004925878	Ubiquitin proteasome system protein	BrainSpLMD|64854	OMIM|612849
Choroid	SRP14	0.924412384	0.004936019	RNA binding protein	BrainSpLMD|6727;Eurexp|euxassay_001753|dorsal root ganglion, glossopharyngeal IX, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|600708
Choroid	CHCHD5	1.2597236	0.005032609	Unclassified	BrainSpLMD|84269;Eurexp|euxassay_002823|orbito-sphenoid, turbinate	OMIM|616978
Choroid	MDFIC	1.871436374	0.005035414	Unclassified	BrainSpLMD|29969;Eurexp|euxassay_013974|choroid invagination, choroid plexus	OMIM|614511
Choroid	HSPA5	1.537455769	0.005040223	Chaperone	BrainSpLMD|3309	OMIM|138120
Choroid	HIST1H2AC	1.173007813	0.005091307	DNA binding protein	BrainSpLMD|8334	OMIM|602794
Choroid	SNHG19	0.317309158	0.005306589			
Choroid	COX5B	1.096718124	0.005360409	Enzyme: Oxidoreductase	BrainSpLMD|1329;Eurexp|euxassay_005933|embryo	OMIM|123866
Choroid	BTD	2.789158023	0.005393341	Enzyme: Hydrolase	BrainSpLMD|686	OMIM|609019;HPO|686|Alopecia, Apnea, Ataxia, Autosomal recessive inheritance, Conjunctivitis, Desquamation of skin soon after birth, Diarrhea, Diffuse cerebellar atrophy, Diffuse cerebral atrophy, Feeding difficulties in infancy, Generalized hypotonia, Generalized myoclonic seizures, Global developmental delay, Hearing impairment, Hepatomegaly, Hyperammonemia, Keratoconjunctivitis, Lethargy, Metabolic ketoacidosis, Muscular hypotonia, Optic atrophy, Organic aciduria, Perioral eczema, Recurrent skin infections, Seborrheic dermatitis, Seizures, Sensorineural hearing impairment, Skin rash, Splenomegaly, Tachypnea, Visual loss, Vomiting
Choroid	PSPHP1	0.531127834	0.00542646	Serine/threonine phosphatase		OMIM|604239
Choroid	DENND6B	0.919971821	0.005446549	Unclassified	Eurexp|euxassay_000502|alar plate, basal columns, basal plate, cerebellum, corpus striatum, dorsal root ganglion, epithalamus, glossopharyngeal IX, hindbrain, hypothalamus, lateral wall, mantle layer, marginal layer, medulla oblongata, metencephalon, midbrain, neural retina, pons, rest of alar plate, spinal cord, sulcus limitans, tegmentum, telencephalon, thalamus, trigeminal V	
Choroid	RPS20	0.286430924	0.005502762	Ribosomal subunit	BrainSpLMD|6224	OMIM|603682
Choroid	AXL	0.392958878	0.005509764	Receptor tyrosine kinase	BrainSpLMD|558;Eurexp|euxassay_001756|cardiovascular system, gland, head mesenchyme, integumental system, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|26110	OMIM|109135;HPO|558|Autosomal dominant inheritance, Autosomal recessive inheritance, Cryptorchidism, Decreased testicular size, Gynecomastia, Hypogonadotrophic hypogonadism, Micropenis, Primary amenorrhea, Sparse axillary hair, Sparse pubic hair
Choroid	CREB3L2	1.95471129	0.005521647	Transcription factor	BrainSpLMD|64764;BrainSpMouseDev|83997	OMIM|608834;COSMIC||fibromyxoid sarcoma
Choroid	RPS2P5	0.969164763	0.005566639			
Choroid	MYL12A	1.783468662	0.005599129	Calcium binding protein	BrainSpLMD|10627	
Choroid	NDUFV1	1.179161322	0.005611091	Enzyme: Oxidoreductase	BrainSpLMD|4723;Eurexp|euxassay_018916|dorsal root ganglion, liver, mantle layer, orbito-sphenoid, pancreas, submandibular gland primordium, testis, ventral grey horn, vibrissa	OMIM|161015;HPO|4723|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
Choroid	SLC41A1	2.027356126	0.005614314	Membrane transport protein	BrainSpLMD|254428;Eurexp|euxassay_012144|meninges, ventricular layer	OMIM|610801
Choroid	NDUFB2	0.812667972	0.005643795	Enzyme: Oxidoreductase	BrainSpLMD|4708;Eurexp|euxassay_008721|basisphenoid bone, exoccipital bone, petrous part, rib	OMIM|603838
Choroid	PATL1	1.218293622	0.005665782	Unclassified	BrainSpLMD|219988	OMIM|614660
Choroid	USP54	1.052216182	0.005837859	Unclassified	BrainSpLMD|159195	
Choroid	PKP4	2.184849497	0.005840057	Cell junction protein	BrainSpLMD|8502	OMIM|604276
Choroid	TCTN3	2.136306025	0.005844212	Integral membrane protein	BrainSpLMD|26123;Eurexp|euxassay_011590|choroid invagination, choroid plexus, olfactory, roof plate	OMIM|613847;HPO|26123|Abnormality of eye movement, Abnormality of oral frenula, Abnormality of the gingiva, Abnormality of the tongue, Absent testis, Accessory oral frenulum, Aplasia/Hypoplasia of the tibia, Autosomal recessive inheritance, Bifid uvula, Brachydactyly, Camptodactyly, Camptodactyly of finger, Cerebral atrophy, Cerebral cortical hemiatrophy, Choanal atresia, Cleft palate, Clinodactyly, Conductive hearing impairment, Decreased testicular size, Depressed nasal ridge, Epicanthus, Failure to thrive, Feeding difficulties, Finger syndactyly, Foot polydactyly, Genu varum, Global developmental delay, Hamartoma, Hamartoma of tongue, Hand polydactyly, High palate, High, narrow palate, Horseshoe kidney, Hypertelorism, Intellectual disability, Intrauterine growth retardation, Joint dislocation, Joint laxity, Kyphoscoliosis, Laryngomalacia, Lobulated tongue, Low-set ears, Median cleft lip, Microcephaly, Micrognathia, Micromelia, Microtia, third degree, Molar tooth sign on MRI, Monorchism, Oligohydramnios, Oral synechia, Pectus excavatum, Phenotypic variability, Polydactyly, Porencephalic cyst, Postaxial hand polydactyly, Posteriorly rotated ears, Preaxial hand polydactyly, Proptosis, Recurrent respiratory infections, Retrognathia, Severe short stature, Short finger, Short nose, Short stature, Short tibia, Specific learning disability, Split hand, Subcortical cerebral atrophy, Submucous cleft hard palate, Toe syndactyly, Tongue nodules, Ventricular septal defect, Wide nose
Choroid	RPL35	1.001240085	0.005967275	Ribosomal subunit	BrainSpLMD|11224	
Choroid	RAB13	2.266386108	0.005979052	GTPase	Eurexp|euxassay_003494|meninges, metencephalon, olfactory lobe	OMIM|602672
Choroid	NDUFAF3	1.045585648	0.006052918	Unclassified	BrainSpLMD|25915;Eurexp|euxassay_006731|olfactory	OMIM|612911;HPO|25915|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
Choroid	HIGD2A	0.883724408	0.006110855	Unclassified	BrainSpLMD|192286	
Choroid	ATP11B	0.536387158	0.00611199	ATPase	BrainSpLMD|23200	OMIM|605869
Choroid	ENPP2	2.339276576	0.006145869	Enzyme: Phosphodiesterase	BrainSpLMD|5168;Eurexp|euxassay_002856|4th ventricle, bladder, calyces, cartilaginous ring, choroid plexus, clavicle, ductus deferens, incisor, laryngeal, larynx, lateral recess, mesenchyme, molar, muscle, oral epithelium, penis, phalanx, skeletal muscle, trachea, ventral grey horn, ventricular layer, vibrissa	OMIM|601060
Choroid	HSP90AB3P	0.78266902	0.006161506			
Choroid	PARK7	1.149103095	0.00617707	RNA binding protein	BrainSpLMD|11315	OMIM|602533;HPO|11315|Adult onset, Anxiety, Autosomal recessive inheritance, Blepharospasm, Bradykinesia, Postural tremor, Psychotic episodes, Resting tremor, Rigidity, Slow progression
Choroid	COX7C	0.984778504	0.006243803	Regulatory/other subunit		OMIM|603774
Choroid	VKORC1	1.313036022	0.006246931	Enzyme: Reductase;Coagulation factor	BrainSpLMD|79001;Eurexp|euxassay_000753|Meckel's cartilage, chondrocranium, incisor, molar	OMIM|608547;HPO|79001|Abnormal bleeding, Abnormality of blood and blood-forming tissues, Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Autosomal recessive inheritance, Reduced factor IX activity, Reduced factor VII activity, Reduced factor X activity, Reduced prothrombin activity
Choroid	DMD	0.590727545	0.006253318	Structural protein	BrainSpLMD|1756;Eurexp|euxassay_010997|incisor, lateral wall, mantle layer, molar, ventricular layer, vibrissa	SFARI||Autism, No category;OMIM|300377;HPO|1756|Abnormal urinary color, Adult onset, Arrhythmia, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Childhood onset, Cognitive impairment, Congestive heart failure, Delayed speech and language development, Difficulty climbing stairs, Difficulty walking, Dilated cardiomyopathy, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Exercise intolerance, Falls, Fatigue, Flexion contracture, Generalized hypotonia, Global developmental delay, Gowers sign, Hyperlordosis, Hyporeflexia, Hypoventilation, Intellectual disability, Intellectual disability, mild, Motor delay, Muscle cramps, Muscle weakness, Muscular dystrophy, Myalgia, Myoglobinuria, Progressive muscle weakness, Proximal muscle weakness, Respiratory failure, Respiratory insufficiency, Scoliosis, Skeletal muscle atrophy, Specific learning disability, Waddling gait, X-linked inheritance, X-linked recessive inheritance
Choroid	SPTLC2	0.333414706	0.006329781	Enzyme: Acyltransferase	BrainSpLMD|9517	OMIM|605713;HPO|9517|Abnormality of the foot, Anhidrosis, Autoamputation, Autosomal dominant inheritance, Distal muscle weakness, Distal sensory impairment, Distal sensory loss of all modalities, Dysesthesia, Osteomyelitis, Sensorimotor neuropathy, Skin ulcer
Choroid	ST5	2.220667807	0.006337266	Unclassified	BrainSpLMD|6764	OMIM|140750
Choroid	SH3BGRL	0.294137736	0.006337662	Unclassified	BrainSpLMD|6451	OMIM|300190
Choroid	ITGB3BP	0.986572313	0.006353159	Transcription regulatory protein	BrainSpLMD|23421	OMIM|605494
Choroid	RPL5P9	0.305586339	0.006356507			
Choroid	HIBADH	1.247658782	0.006394809	Enzyme: Dehydrogenase	BrainSpLMD|11112	OMIM|608475
Choroid	DNAL4	2.136268627	0.006401713	Motor protein	BrainSpLMD|10126;Eurexp|euxassay_008213|ventricle	OMIM|610565;HPO|10126|Autosomal recessive inheritance, Bimanual synkinesia
Choroid	CNN2	0.918741877	0.006411244	Cytoskeletal associated protein	BrainSpLMD|1265	OMIM|602373
Choroid	NAA38	1.525425529	0.006415415	Unclassified	BrainSpLMD|84316	
Choroid	MPC1	0.648845133	0.006480803	Unclassified	BrainSpLMD|51660;Eurexp|euxassay_014791|adrenal gland, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V	OMIM|614738;HPO|51660|Autosomal recessive inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hypoglycemia, Increased serum lactate, Increased serum pyruvate, Lactic acidosis, Organic aciduria, Variable expressivity
Choroid	GLT8D1	2.236897466	0.00649671	Unclassified;Enzyme: Transferase	BrainSpLMD|55830	
Choroid	ITM2B	0.464408213	0.006504573	Integral membrane protein	BrainSpLMD|9445	OMIM|603904;HPO|9445|Ataxia, Autosomal dominant inheritance, Cerebral amyloid angiopathy, Dementia, Hearing impairment, Hypertonia, Intention tremor, Neurofibrillary tangles, Optic disc pallor, Photophobia, Posterior polar cataract, Progressive neurologic deterioration, Psychosis, Retinal dystrophy, Rigidity, Spasticity, Tremor
Choroid	GSTO1	1.152046544	0.006600982	Enzyme: Glutathione transferase	BrainSpLMD|9446;Eurexp|euxassay_018672|midgut, oesophagus, stomach	OMIM|605482
Choroid	FTH1P20	0.57719328	0.00661054			
Choroid	CDKL2	2.087959542	0.006620282	Serine/threonine kinase	BrainSpLMD|8999	OMIM|603442
Choroid	CTD.2015H6.3	0.469727469	0.006631153			
Choroid	SCAND1	1.638516386	0.006710879	Transcription regulatory protein	BrainSpLMD|51282	OMIM|610416
Choroid	DHRS1	1.181408803	0.006753396	Enzyme: Dehydrogenase	BrainSpLMD|115817;Eurexp|euxassay_002015|dorsal root ganglion, glossopharyngeal IX, trigeminal V	OMIM|610410
Choroid	LRPAP1	2.303852171	0.006786871	Chaperone	BrainSpLMD|4043;Eurexp|euxassay_013971|calyces, choroid invagination, choroid plexus, floor plate, floorplate, mantle layer, marginal layer, olfactory, roof plate, stomach	OMIM|104225;HPO|4043|Autosomal recessive inheritance, Increased axial globe length, Reduced visual acuity, Severe Myopia, Visual impairment
Choroid	PRICKLE2	1.705340169	0.006801214	Unclassified	BrainSpLMD|166336	SFARI||Autism, 3 - Suggestive evidence;OMIM|608501
Choroid	CAPNS1	1.938620119	0.006815896	Regulatory/other subunit	BrainSpLMD|826;Eurexp|euxassay_007147|mantle layer, nucleus pulposus, ventral grey horn	OMIM|114170
Choroid	RP11.208G20.2	1.25051172	0.006871747			
Choroid	CKS2	0.360570176	0.00690193	Cell cycle control protein	BrainSpLMD|1164	OMIM|116901
Choroid	FAF2	1.285303144	0.006968913	Unclassified	BrainSpLMD|23197;Eurexp|euxassay_007868|embryo	OMIM|616935
Choroid	MBD4	1.273629747	0.006968986	Transcription regulatory protein	BrainSpLMD|8930	SFARI||Autism, 4 - Minimal evidence;OMIM|603574
Choroid	CSPP1	1.274465251	0.006991663	Unclassified	BrainSpLMD|79848;Eurexp|euxassay_011574|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, metanephros, olfactory, right lung, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611654;HPO|79848|Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Cataract, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Cleft palate, Congenital hepatic fibrosis, Congenital onset, Cryptorchidism, Depressed nasal ridge, Dyspnea, Elongated superior cerebellar peduncle, Encephalocele, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Hypertelorism, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Postaxial foot polydactyly, Postaxial hand polydactyly, Posterior fossa cyst, Ptosis, Sclerocornea, Sloping forehead, Strabismus, Talipes, Variable expressivity
Choroid	KIAA0907	0.881248495	0.006995032			
Choroid	RPL3	0.972181411	0.00704193	Ribosomal subunit		OMIM|604163
Choroid	UBL7	0.850088864	0.007097401	Ubiquitin proteasome system protein	BrainSpLMD|84993	SFARI||Autism, 6 - Evidence does not support role;OMIM|609748
Choroid	CENPBD1P1	1.647467642	0.007196828		BrainSpLMD|65996	
Choroid	ZNRF2	0.440322085	0.007251135	Ubiquitin proteasome system protein	Eurexp|euxassay_016157|mantle layer	OMIM|612061
Choroid	KTN1	0.528244113	0.007302759	Anchor protein	BrainSpLMD|3895	OMIM|600381;COSMIC||papillary thyroid
Choroid	SULT1C4	1.120493049	0.007329659	Enzyme: Sulphotransferase	BrainSpLMD|27233	OMIM|608357
Choroid	RPL5P1	0.62917023	0.00732979			
Choroid	NME7	1.429423467	0.007359246	Enzyme: Phosphotransferase	BrainSpLMD|29922;Eurexp|euxassay_003414|4th ventricle, incisor, lung, metanephros, molar, olfactory, oral cavity, oral epithelium, oral region, pancreas, pharyngo-tympanic tube, respiratory, submandibular gland primordium, tongue, ventricular layer, vibrissa	OMIM|613465
Choroid	RP11.349N19.2	0.304699447	0.007361197			
Choroid	SOD1	1.153700207	0.007373412	Enzyme: Superoxide dismutase	BrainSpLMD|6647	SFARI||Autism, No category;OMIM|147450;HPO|6647|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Degeneration of anterior horn cells, Degeneration of the lateral corticospinal tracts, Depressivity, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Heterogeneous, Hyperreflexia, Muscle cramps, Muscle weakness, Neurodegeneration, Pain, Paralysis, Pseudobulbar paralysis, Respiratory failure, Skeletal muscle atrophy, Sleep apnea, Spasticity, Xerostomia
Choroid	RPL15	0.73986709	0.007412758	Ribosomal subunit	BrainSpLMD|6138	OMIM|604174;HPO|6138|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Elevated red cell adenosine deaminase activity, Fatigue, Macrocytic anemia, Migraine, Normochromic anemia, Pallor, Reticulocytopenia, Triphalangeal thumb, Ventricular septal defect
Choroid	RPS2	0.956018116	0.007525876	Ribosomal subunit	BrainSpLMD|6187;Eurexp|euxassay_005928|embryo	OMIM|603624
Choroid	MRPL39	1.362068384	0.007572841	Ribosomal subunit	BrainSpLMD|54148	OMIM|611845
Choroid	CMTM6	1.129162632	0.007574234	Integral membrane protein	BrainSpLMD|54918	OMIM|607889
Choroid	SEPW1	1.087154759	0.007579638			
Choroid	ATP2B4	1.062479952	0.007710319	ATPase	BrainSpLMD|493;Eurexp|euxassay_013200|lobe, ventral grey horn	OMIM|108732
Choroid	RP11.386M24.4	0.409157485	0.007741732			
Choroid	WDR83	2.361245678	0.00775885	Adapter molecule	BrainSpLMD|84292;Eurexp|euxassay_006709|embryo	OMIM|616850
Choroid	RPS27L	0.650143471	0.007767856	Unclassified	BrainSpLMD|51065;Eurexp|euxassay_013950|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, pancreas, primitive seminiferous tubules, rest of mesenchyme, right lung, skeletal muscle, submandibular gland primordium, thymus primordium, tongue, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|612055
Choroid	PDCD4	0.765510852	0.007791867	Unclassified	BrainSpLMD|27250;Eurexp|euxassay_010730|epidermis, epithelium, floor plate, floorplate, larynx, olfactory, sternum, thymus primordium, urethra, ventricular layer	OMIM|608610
Choroid	HIGD1A	0.461803471	0.007851688	Integral membrane protein		
Choroid	GLRX3	0.726944822	0.007894615	Unclassified	BrainSpLMD|10539	OMIM|612754
Choroid	IFT46	1.679692887	0.007950675	Unclassified	BrainSpLMD|56912	
Choroid	RP11.620J15.3	1.203478119	0.007987521			
Choroid	LYRM4	0.59276741	0.008001716	Unclassified	BrainSpLMD|57128	OMIM|613311;HPO|57128|Autosomal recessive inheritance, Failure to thrive, Feeding difficulties, Hepatic steatosis, Lactic acidosis, Neonatal hypotonia, Respiratory distress
Choroid	ATP5G2	0.708467838	0.008014937			
Choroid	PDGFA	0.816266246	0.008042379	Growth factor	Eurexp|euxassay_004036|anterior, axial skeleton, calyces, choroid invagination, choroid plexus, conjunctival sac, diaphragm, epidermis, epithelium, external, footplate, handplate, incisor, left lung, midgut, molar, naso-lacrimal duct, olfactory, oral epithelium, orbito-sphenoid, paraxial mesenchyme, pharyngo-tympanic tube, posterior, primitive seminiferous tubules, rest of mesenchyme, right lung, roof plate, skeletal muscle, stomach, submandibular gland primordium, thymus primordium, trachea, urethra, vertebral axis muscle system, vibrissa, vomeronasal organ;BrainSpMouseDev|18356	OMIM|173430
Choroid	YES1	0.995493281	0.008060574	Tyrosine kinase	BrainSpLMD|7525	OMIM|164880
Choroid	NT5C	1.471268517	0.00811877	Enzyme: Hydrolase	BrainSpLMD|30833	OMIM|191720
Choroid	CHURC1	0.392052068	0.008140069	Transcription regulatory protein	BrainSpLMD|91612;Eurexp|euxassay_011573|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|84269	OMIM|608577
Choroid	NT5DC1	1.556343965	0.008221772	Unclassified	BrainSpLMD|221294	
Choroid	TMX4	0.896990929	0.008278535	Unclassified	BrainSpLMD|56255	OMIM|616766
Choroid	RPN1	1.473631912	0.008314214	Ubiquitin proteasome system protein	BrainSpLMD|6184;Eurexp|euxassay_003116|chondrocranium	OMIM|180470;COSMIC||AML
Choroid	H3F3AP4	0.49183297	0.008361426			
Choroid	FAM84A	0.913277438	0.008372078	Unclassified	BrainSpLMD|151354;Eurexp|euxassay_003388|respiratory, submandibular gland primordium, urethra, vibrissa	OMIM|611234
Choroid	MOK	2.403522986	0.008380723	Serine/threonine kinase	BrainSpLMD|5891	OMIM|605762
Choroid	RPL24P2	0.41613643	0.00847028			
Choroid	CHCHD2	1.375290311	0.008492921	Unclassified	BrainSpLMD|51142;Eurexp|euxassay_002441|diaphragm, head mesenchyme, tongue, ventricle, vertebral axis muscle system	OMIM|616244
Choroid	NDUFS4	0.365109653	0.008647846	Enzyme: Reductase	BrainSpLMD|4724	OMIM|602694;HPO|4724|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, CNS demyelination, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Dysarthria, Dystonia, Emotional lability, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Gliosis, Global developmental delay, Growth delay, Hepatic failure, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Phenotypic variability, Pigmentary retinopathy, Progressive, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
Choroid	LRRC48	2.0666851	0.008661112			
Choroid	UNC50	1.425801057	0.008686472	RNA binding protein	BrainSpLMD|25972	
Choroid	CACYBP	0.591640248	0.008721454	Ubiquitin proteasome system protein	BrainSpLMD|27101;Eurexp|euxassay_006213|brain, cervical, cervico-thoracic, cortex, diencephalon, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, left, mandible, maxilla, midbrain, molar, olfactory, orbito-sphenoid, right, spinal cord, submandibular gland primordium, telencephalon, thoracic, thymus primordium, trigeminal V, vertebral axis muscle system, vibrissa	OMIM|606186
Choroid	FAM206A	2.082765154	0.008857821	Unclassified	BrainSpLMD|54942	
Choroid	ARHGAP29	1.412231278	0.008879932	GTPase activating protein	BrainSpLMD|9411;Eurexp|euxassay_002013|meninges, oral epithelium	OMIM|610496
Choroid	HSBP1	0.968097095	0.008890804	Transcription regulatory protein	BrainSpLMD|3281;Eurexp|euxassay_003563|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|604553
Choroid	NEK5	1.16882522	0.00890438	Serine/threonine kinase	BrainSpLMD|341676;Eurexp|euxassay_011536|choroid invagination, choroid plexus, roof plate	OMIM|616731
Choroid	EIF3FP3	1.014323883	0.008945229			
Choroid	AC253572.1	0.857859657	0.008949509			
Choroid	SH3KBP1	2.193054042	0.009038047	Adapter molecule	BrainSpLMD|30011	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300374
Choroid	NGFRAP1	1.054360345	0.009054121			
Choroid	RAB3IP	1.691477221	0.009398903	Guanine nucleotide exchange factor;Unclassified	BrainSpLMD|117177;Eurexp|euxassay_007883|calyces, hindgut, loop, stomach	OMIM|608686
Choroid	RAB1B	2.073728569	0.00946178	GTPase	BrainSpLMD|81876	OMIM|612565
Choroid	CNTRL	0.913016373	0.009480904	Unclassified	BrainSpLMD|11064;Eurexp|euxassay_016548|ventricular layer;BrainSpMouseDev|26666	OMIM|605496;COSMIC||MPN, NHL
Choroid	FAM210B	2.900724486	0.009511415	Unclassified	BrainSpLMD|116151	
Choroid	DNPH1	1.691081162	0.009619029	Unclassified	BrainSpLMD|10591	
Choroid	PTGES3P1	0.321941978	0.009868845			
Choroid	MIPEPP3	1.528011287	0.009889757			
Choroid	FLOT2	0.660291764	0.009945196	Adhesion molecule	BrainSpLMD|2319	OMIM|131560
Choroid	CRABP2	2.009458018	0.009997842	Transcription regulatory protein	BrainSpLMD|1382;Eurexp|euxassay_004796|arm, axial skeleton, cornea, diaphragm, dorsal root ganglion, epithelium, footplate, handplate, incisor, leg, lip, mantle layer, meninges, mesenchyme, metanephros, molar, neural retina, olfactory, penis, pituitary, retina, saccule, thymus primordium, trigeminal V, ventral grey horn, vertebral axis muscle system, vibrissa	OMIM|180231
RG-early	LIX1	2.834630251	0	Unclassified	BrainSpLMD|167410	OMIM|610466
RG-early	HMGA2	2.57741975	0	Transcription factor	BrainSpLMD|8091;Eurexp|euxassay_003865|axial skeleton, cochlea, cortex, fibula, handplate, hindgut, humerus, lung, metanephros, metatarsus, midgut, oesophagus, pancreas, pelvic girdle, phalanx, pituitary, rib, stomach, sublingual gland primordium, thymus primordium, thyroid, tibia, trachea, turbinate bones, ventricular layer;BrainSpMouseDev|15139	OMIM|600698;COSMIC||lipoma, leiomyoma, pleomorphic salivary gland adenoma;HPO|8091|Autosomal dominant inheritance, Delayed speech and language development, Failure to thrive, Global developmental delay, Hyperpigmentation of the skin, Hypertelorism, Intellectual disability, mild, Intrauterine growth retardation, Osteopoikilosis, Short stature, Somatic mutation, Specific learning disability, Subcutaneous nodule, Tremor, Uterine leiomyoma
RG-early	CKS2	1.966310351	0	Cell cycle control protein	BrainSpLMD|1164	OMIM|116901
RG-early	VIM	1.852362508	0	Cytoskeletal protein	BrainSpLMD|7431	OMIM|193060;HPO|7431|Autosomal dominant inheritance, Congenital onset, Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract
RG-early	RPL41P1	1.775010493	0			
RG-early	CTD.2031P19.4	1.663463117	0			
RG-early	HMGB1P5	1.462445859	0			
RG-early	GAPDHP1	1.436932757	0			
RG-early	HMGB1P1	1.42048396	0	Transcription regulatory protein		
RG-early	RP11.592N21.1	1.316701986	0			
RG-early	RPL7P23	1.202867517	0			
RG-early	SOX9	1.191612503	0	Transcription factor	BrainSpLMD|6662;Eurexp|euxassay_002633|axial skeleton, basisphenoid bone, calyces, exoccipital bone, femur, lung, mesenchyme, naris, nasal septum, nucleus pulposus, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, pharyngo-tympanic tube, trachea, turbinate, ventricular layer, vibrissa;BrainSpMouseDev|20444	OMIM|608160;HPO|6662|11 pairs of ribs, Abnormal heart morphology, Abnormal scrotal rugation, Abnormal sex determination, Abnormality of male internal genitalia, Abnormality of the labia, Abnormality of the pharynx, Abnormality of the scrotum, Abnormality of the uterus, Absent sternal ossification, Ambiguous genitalia, Anterior tibial bowing, Apnea, Autosomal dominant inheritance, Azoospermia, Bifid scrotum, Blepharophimosis, Cleft palate, Clitoral hypertrophy, Cryptorchidism, Decreased fertility, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Depressed nasal bridge, Depressed nasal ridge, Disproportionate short-limb short stature, Dysgerminoma, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Failure to thrive, Female external genitalia in individual with 46,XY karyotype, Femoral bowing, Fibular hypoplasia, Flat face, Generalized hypotonia, Glossoptosis, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hearing impairment, High forehead, Hip dislocation, Hydrocephalus, Hydronephrosis, Hypergonadotropic hypogonadism, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the vagina, Hypoplastic cervical vertebrae, Hypoplastic iliac wing, Hypoplastic inferior ilia, Hypoplastic scapulae, Hypospadias, Kyphoscoliosis, Laryngomalacia, Low-set ears, Macrocephaly, Male hypogonadism, Male infertility, Male pseudohermaphroditism, Micrognathia, Micropenis, Narrow chest, Neonatal respiratory distress, Neonatal short-limb short stature, Osteoporosis, Polycystic ovaries, Polyhydramnios, Poorly ossified cervical vertebrae, Primary amenorrhea, Proptosis, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Scrotal hypoplasia, Sex reversal, Short neck, Short palpebral fissure, Short stature, Shortening of all phalanges of fingers, Shortening of all phalanges of the toes, Skin dimples, Small abnormally formed scapulae, Small face, Sparse axillary hair, Sparse pubic hair, Streak ovary, Talipes equinovarus, Testicular dysgenesis, Thin ribs, Thoracic hypoplasia, Tibial bowing, Tracheobronchomalacia, True hermaphroditism, Upper airway obstruction, Urogenital sinus anomaly, Vanishing testis, Wide anterior fontanel
RG-early	TP53	1.159612351	0	Transcription factor	BrainSpLMD|7157;Eurexp|euxassay_017977|submandibular gland primordium, thymus primordium;BrainSpMouseDev|21816	OMIM|191170;COSMIC||breast, colorectal, lung, sarcoma, adrenocortical, glioma, Spitzoid tumour, multiple other tumour types, breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types;HPO|7157|Abnormal lactate dehydrogenase activity, Abnormal platelet morphology, Abnormality of metabolism/homeostasis, Abnormality of the fallopian tube, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphysis, Acute leukemia, Adrenocortical carcinoma, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast carcinoma, Chest pain, Choroid plexus papilloma, Colon cancer, Elevated alkaline phosphatase, Headache, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hydrocephalus, Increased megakaryocyte count, Joint swelling, Lung adenocarcinoma, Lymphoma, Micronodular cirrhosis, Myocardial infarction, Nausea, Neoplasia of the nasopharynx, Neoplasm of the adrenal cortex, Neoplasm of the colon, Neoplasm of the nervous system, Neoplasm of the pancreas, Neoplasm of the skin, Neoplasm of the stomach, Nephroblastoma, Osteolysis, Osteosarcoma, Ovarian neoplasm, Pain, Papilledema, Paresthesia, Polygenic inheritance, Primary peritoneal carcinoma, Progressive encephalopathy, Prolonged bleeding time, Prostate cancer, Prostate neoplasm, Renal cell carcinoma, Retinoblastoma, Seizures, Soft tissue sarcoma, Somatic mutation, Splenomegaly, Subacute progressive viral hepatitis, Transient ischemic attack, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Venous thrombosis, Vomiting
RG-early	HES1	0.828912532	0	Transcription factor	BrainSpLMD|3280;Eurexp|euxassay_019489|epithelium, floor plate, floorplate, hindgut, incisor, larynx, lung, metanephros, metatarsus, midgut, molar, neural retina, oesophagus, olfactory, oral epithelium, pancreas, phalanx, pharyngo-tympanic tube, skeleton, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|14981	OMIM|139605
RG-early	ZFP36L1	0.794689074	0	Transcription factor	BrainSpLMD|677;Eurexp|euxassay_007310|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|11978	OMIM|601064
RG-early	HSPE1	1.756768968	1.11E-16	Heat shock protein	BrainSpLMD|3336	OMIM|600141
RG-early	CREB5	1.489797097	1.11E-16	Transcription factor	BrainSpLMD|9586;Eurexp|euxassay_016386|axial skeleton, oral epithelium	
RG-early	HIST1H1C	1.970183479	2.22E-16	DNA binding protein	BrainSpLMD|3006;Eurexp|euxassay_015954|ventricular layer	OMIM|142710
RG-early	HMGB1P10	1.453939648	5.55E-16			
RG-early	TFAP2C	1.674391675	6.66E-16	Transcription factor	BrainSpLMD|7022;BrainSpMouseDev|21181	OMIM|601602
RG-early	UHRF1	1.125499024	6.66E-16	DNA binding protein	BrainSpLMD|29128	OMIM|607990
RG-early	HMGB2	1.764658076	1.33E-15	Transcription regulatory protein	BrainSpLMD|3148;Eurexp|euxassay_019251|incisor, lobe, lung, marginal layer, metanephros, molar, neural retina, oesophagus, pancreas, pituitary, submandibular gland primordium, thymus primordium, thyroid, trachea, turbinate bones, valve, ventricle, ventricular layer, vertebral axis muscle system	OMIM|163906
RG-early	HSPH1	1.598042887	5.11E-15	Heat shock protein;Chaperone	BrainSpLMD|10808	OMIM|610703
RG-early	KIAA0101	2.195497903	5.55E-15			
RG-early	RPS3AP26	0.991591632	6.44E-15			
RG-early	MT.TV	0.566515337	2.81E-14			
RG-early	RPS3AP6	1.014096764	3.31E-14			
RG-early	HSPB1	1.405620454	5.33E-14	Chaperone	BrainSpLMD|3315	OMIM|602195;HPO|3315|Adult onset, Areflexia, Areflexia of lower limbs, Autosomal dominant inheritance, Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Difficulty walking, Distal amyotrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Distal sensory impairment, EMG: chronic denervation signs, EMG: neuropathic changes, Fasciculations, Foot dorsiflexor weakness, Heterogeneous, Hyporeflexia, Hyporeflexia of lower limbs, Impaired pain sensation, Impaired temperature sensation, Limb fasciculations, Lower limb muscle weakness, Muscle cramps, Paresis of extensor muscles of the big toe, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Reduced tendon reflexes, Slow progression, Split hand, Steppage gait, Talipes equinovarus, Ulnar claw, Upper limb amyotrophy
RG-early	PAX6	1.138676817	5.97E-14	Transcription factor	BrainSpLMD|5080;BrainSpMouseDev|18274	SFARI||Autism, No category;OMIM|607108;HPO|5080|Abnormal best corrected visual acuity test, Abnormality of movement, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the vagina, Abnormality of vision, Amblyopia, Aniridia, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the macula, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Cerebellar hypoplasia, Chorioretinal coloboma, Congenital glaucoma, Congenital nystagmus, Contiguous gene syndrome, Corneal opacity, Cryptorchidism, Displacement of the external urethral meatus, EEG abnormality, Everted lower lip vermilion, Generalized hyperpigmentation, Glaucoma, Global developmental delay, Hearing abnormality, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Hypoplasia of the iris, Hypospadias, Intellectual disability, Keratitis, Mask-like facies, Microcephaly, Micrognathia, Motor delay, Muscular hypotonia, Nephroblastoma, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Optic disc hypoplasia, Optic nerve aplasia, Optic nerve coloboma, Optic nerve hypoplasia, Peripheral vitreous opacities, Peters anomaly, Postural tremor, Presenile cataracts, Pseudopapilledema, Ptosis, Reduced visual acuity, Retinal detachment, Scanning speech, Short stature, Slurred speech, Somatic mutation, Strabismus, Streak ovary, Visual impairment, Visual loss
RG-early	RPL41P5	1.669862469	7.41E-14			
RG-early	RP11.613M5.2	0.977390491	4.76E-13			
RG-early	RP4.706A16.3	1.070433996	9.55E-13			
RG-early	HELLS	0.871233362	1.32E-12	DNA binding protein	BrainSpLMD|3070	OMIM|603946;HPO|3070|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Congenital onset, Decreased antibody level in blood, Depressed nasal bridge, Epicanthus, Global developmental delay, Hypertelorism, Intellectual disability, Lymphopenia, Macrocephaly, Malabsorption, Micrognathia, Recurrent infections, Recurrent respiratory infections, Short stature
RG-early	PEG3	1.208275771	2.10E-12	Transcription factor	BrainSpLMD|5178	OMIM|601483
RG-early	RANP1	0.761304818	3.48E-12			
RG-early	RPL5P1	0.858429666	4.79E-12			
RG-early	RPS3A	1.220506495	5.02E-12	Ribosomal subunit		OMIM|180478
RG-early	RPS14	0.882966593	5.59E-12	Ribosomal subunit	BrainSpLMD|6208	OMIM|130620;HPO|6208|Abnormality of cells of the megakaryocyte lineage, Autosomal dominant contiguous gene syndrome, Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Somatic mutation, Sporadic
RG-early	SFRP1	0.600150056	6.77E-12	Secreted polypeptide	BrainSpLMD|6422;BrainSpMouseDev|20140	OMIM|604156
RG-early	HIST1H1E	1.699891214	9.39E-12	DNA binding protein	BrainSpLMD|3008;Eurexp|euxassay_005923|embryo	OMIM|142220;HPO|3008|Accelerated skeletal maturation, Amblyopia, Astigmatism, Autosomal dominant inheritance, Camptodactyly, Full cheeks, Global developmental delay, Hypertonia, Intellectual disability, Kyphoscoliosis, Macrocephaly, Neonatal hypotonia, Nevus, Strabismus, Talipes equinovarus, Telecanthus
RG-early	GAPDH	1.103095235	1.71E-11	Enzyme: Dehydrogenase		OMIM|138400
RG-early	UBB	1.43827052	2.91E-11	Ubiquitin proteasome system protein	BrainSpLMD|7314	OMIM|191339;HPO|7314|Anterior open-bite malocclusion, Autosomal dominant inheritance, Cleft palate, Gingival overgrowth, Intellectual disability, profound, Micrognathia, Overbite, Seizures
RG-early	HK2	1.472517236	3.50E-11	Enzyme: Phosphotransferase	BrainSpLMD|3099	OMIM|601125
RG-early	RP11.366L20.2	2.645621743	9.74E-11			
RG-early	SUB1P3	0.878386052	1.13E-10			
RG-early	FANCD2	1.365978323	1.31E-10	Cell cycle control protein	BrainSpLMD|2177	OMIM|613984;COSMIC||AML, leukaemia;HPO|2177|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of skin pigmentation, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anemia, Anemic pallor, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bruising susceptibility, Cafe-au-lait spot, Chromosomal breakage induced by crosslinking agents, Complete duplication of thumb phalanx, Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Duplicated collecting system, Ectopic kidney, Esophageal atresia, Global developmental delay, Hearing impairment, Horseshoe kidney, Hypergonadotropic hypogonadism, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukemia, Leukopenia, Microcephaly, Microphthalmia, Neutropenia, Pancytopenia, Prolonged G2 phase of cell cycle, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Reticulocytopenia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Small for gestational age, Strabismus, Thrombocytopenia, Tracheoesophageal fistula
RG-early	SAR1A	0.439794871	1.50E-10	GTPase	BrainSpLMD|56681;Eurexp|euxassay_004471|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|607691
RG-early	LEF1	1.936365799	2.05E-10	Transcription factor	BrainSpLMD|51176;BrainSpMouseDev|16613	OMIM|153245;COSMIC||B-ALL, T-ALL, eyelid sebaceous carcinoma, AML, lymphomas
RG-early	HMGN2	1.510294282	2.07E-10	Transcription regulatory protein	BrainSpLMD|3151;Eurexp|euxassay_007442|embryo;BrainSpMouseDev|15106	OMIM|163910
RG-early	GLI3	0.98612264	2.65E-10	Transcription factor	BrainSpLMD|2737;Eurexp|euxassay_018378|axial skeleton, mesenchyme, phalanx, ventricular layer;BrainSpMouseDev|14410	OMIM|165240;HPO|2737|1-5 toe syndactyly, 3-4 finger syndactyly, Abnormal lung lobation, Abnormality of earlobe, Accelerated skeletal maturation, Anal atresia, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Bifid epiglottis, Broad hallux phalanx, Broad thumb, Cryptorchidism, Dandy-Walker malformation, Decreased circulating cortisol level, Decreased testicular size, Distal shortening of limbs, Distal urethral duplication, Dysplastic distal thumb phalanges with a central hole, Ectopic kidney, Esophageal atresia, Finger syndactyly, Frontal bossing, Growth hormone deficiency, High forehead, Hip dislocation, Holoprosencephaly, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplasia of the epiglottis, Intellectual disability, severe, Intrauterine growth retardation, Laryngeal cleft, Macrocephaly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Micropenis, Nail dysplasia, Neonatal death, Panhypopituitarism, Postaxial foot polydactyly, Postaxial hand polydactyly, Preaxial foot polydactyly, Preaxial polydactyly, Precocious puberty, Preductal coarctation of the aorta, Prominent occiput, Radial head subluxation, Renal cyst, Renal dysplasia, Renal hypoplasia, Scaphocephaly, Seizures, Short nose, Short stature, Sloping forehead, Telecanthus, Thyroid dysgenesis, Toe syndactyly, Tracheoesophageal fistula, Trigonocephaly, Triphalangeal thumb, Variable expressivity, Ventricular septal defect, Wide nasal bridge
RG-early	TPI1	1.454057841	3.68E-10	Enzyme: Isomerase	BrainSpLMD|7167	OMIM|190450;HPO|7167|Abnormality of immune system physiology, Autosomal recessive inheritance, Central nervous system degeneration, Cholecystitis, Cholelithiasis, Chronic hemolytic anemia, Congestive heart failure, Diaphragmatic paralysis, Dystonia, Generalized hypotonia, Global developmental delay, Hemolytic anemia, Hyporeflexia, Jaundice, Kyphosis, Muscular hypotonia, Myopathy, Normochromic anemia, Normocytic anemia, Peripheral neuropathy, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Splenomegaly, Tremor, Unsteady gait
RG-early	SOX2	0.649672228	4.06E-10	Transcription factor	Eurexp|euxassay_019525|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lung, mantle layer, medulla, midgut, neural retina, oesophagus, olfactory, oral epithelium, pituitary, saccule, stomach, testis, trachea, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|20436	OMIM|184429;COSMIC||NSCLC, oesophageal squamous carcinoma, Microphthalmia and oesophageal atresia syndrome;HPO|6657|Agenesis of corpus callosum, Anophthalmia, Anterior pituitary hypoplasia, Autosomal dominant inheritance, Butterfly vertebrae, Cleft palate, Coloboma, Cryptorchidism, Esophageal atresia, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hemivertebrae, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypospadias, Hypothalamic hamartoma, Microcephaly, Micropenis, Microphthalmia, Missing ribs, Nystagmus, Optic nerve hypoplasia, Patent ductus arteriosus, Postnatal growth retardation, Rib fusion, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Short stature, Spastic diplegia, Spastic tetraplegia, Specific learning disability, Strabismus, Supernumerary ribs, Tracheoesophageal fistula, Ventricular septal defect, Vertebral fusion, Vertebral hypoplasia, Visual impairment, Visual loss
RG-early	RPS27L	1.274624943	4.33E-10	Unclassified	BrainSpLMD|51065;Eurexp|euxassay_013950|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, pancreas, primitive seminiferous tubules, rest of mesenchyme, right lung, skeletal muscle, submandibular gland primordium, thymus primordium, tongue, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|612055
RG-early	ODC1	1.261418281	5.77E-10	Enzyme: Decarboxylase	BrainSpLMD|4953	OMIM|165640
RG-early	TTYH1	0.502433299	7.60E-10	Ion channel	BrainSpLMD|57348;Eurexp|euxassay_018316|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|37048	OMIM|605784
RG-early	ANP32E	0.86587453	8.08E-10	Unclassified	BrainSpLMD|81611	OMIM|609611
RG-early	KIAA1217	1.092558299	8.85E-10	Unclassified	BrainSpLMD|56243;Eurexp|euxassay_002039|ventricular layer	OMIM|617367
RG-early	ID4	1.365052486	9.00E-10	Transcription regulatory protein	BrainSpLMD|3400;BrainSpMouseDev|15677	OMIM|600581
RG-early	NPM1	1.254654326	9.02E-10	Chaperone	BrainSpLMD|4869;Eurexp|euxassay_005708|embryo	OMIM|164040;COSMIC||NHL, APL, AML
RG-early	TRIM59	0.999043878	9.37E-10	Ubiquitin proteasome system protein		OMIM|616148
RG-early	RPS3AP5	0.752146688	1.07E-09			
RG-early	RPS15	1.091637153	1.14E-09	Ribosomal subunit	BrainSpLMD|6209;Eurexp|euxassay_006826|embryo	OMIM|180535
RG-early	TJP1	1.065276441	1.16E-09	Cell junction protein	BrainSpLMD|7082;Eurexp|euxassay_018809|brain, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, left lung, meninges, metanephros, right lung, spinal cord, trigeminal V	OMIM|601009
RG-early	RP11.673C5.1	1.140329817	1.34E-09			
RG-early	AC007969.5	0.974745012	1.38E-09			
RG-early	RP11.572P18.1	0.889869134	1.62E-09			
RG-early	TPI1P1	1.12464722	2.07E-09			
RG-early	RPS19	0.86103086	2.09E-09	Ribosomal subunit	BrainSpLMD|6223	OMIM|603474;HPO|6223|11 pairs of ribs, Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Absent thumb, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Bifid thoracic vertebrae, Cleft palate, Cleft upper lip, Coarctation of aorta, Colon cancer, Congenital hypoplastic anemia, Congestive heart failure, Delayed cranial suture closure, Delayed puberty, Depressed nasal ridge, Downslanted palpebral fissures, Elevated red cell adenosine deaminase activity, Failure to thrive, Fatigue, High palate, Hypertelorism, Hypoplasia of the radius, Hypoplastic coccygeal vertebrae, Hypoplastic ilia, Hypoplastic sacral vertebrae, Infantile onset, Intrauterine growth retardation, Macrocytic anemia, Microcephaly, Micrognathia, Migraine, Myelodysplasia, Narrow chest, Neutropenia, Osteosarcoma, Pallor, Parietal foramina, Partial duplication of thumb phalanx, Premature birth, Reticulocytopenia, Retrognathia, Short neck, Short stature, Short thumb, Strabismus, Thrombocytopenia, Thrombocytosis, Triphalangeal thumb, Ventricular septal defect, Webbed neck
RG-early	DACH1	1.296642643	2.11E-09	Transcription regulatory protein	BrainSpLMD|1602;Eurexp|euxassay_012739|associated mesenchyme, bladder, calyces, cortex, dermis, dorsal root ganglion, facial VII, left lung, mantle layer, meninges, midgut, olfactory, oral region, pelvis, penis, retina, right lung, stomach, thymus primordium, trigeminal V, ureter, urethra, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|12914	OMIM|603803
RG-early	CENPE	1.732097157	3.10E-09	DNA binding protein	BrainSpLMD|1062	OMIM|117143;HPO|1062|Abnormality of dental enamel, Absent earlobe, Autosomal recessive inheritance, Cachexia, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Hip dysplasia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Metaphyseal sclerosis, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Partial agenesis of the corpus callosum, Prematurely aged appearance, Prominent nose, Reduced number of teeth, Round face, Sandal gap, Seizures, Short foot, Short stature, Sloping forehead, Small hand, Sparse scalp hair
RG-early	TMSB15A	1.316224865	3.17E-09	Unclassified	BrainSpLMD|11013	OMIM|300939
RG-early	RPLP1	1.104540067	3.61E-09	Ribosomal subunit		OMIM|180520
RG-early	CNN3	0.832871467	4.02E-09	Cytoskeletal associated protein	BrainSpLMD|1266;Eurexp|euxassay_009765|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|602374
RG-early	WTAP	1.04538828	4.40E-09	Unclassified	BrainSpLMD|9589	OMIM|605442
RG-early	LDHB	1.413011739	4.51E-09	Enzyme: Dehydrogenase	BrainSpLMD|3945	OMIM|150100
RG-early	RPL7	0.943319252	4.72E-09	Ribosomal subunit		OMIM|604166
RG-early	NUSAP1	1.238018934	7.37E-09	Cell cycle control protein	BrainSpLMD|51203	OMIM|612818
RG-early	FAT1	0.965745933	9.77E-09	Adhesion molecule	BrainSpLMD|2195;Eurexp|euxassay_013462|axial skeleton, lung, mandible, maxilla, mesenchyme, rest of mesenchyme, sternum, submandibular gland primordium, vibrissa;BrainSpMouseDev|13884	SFARI||Autism, No category;OMIM|600976;COSMIC||oral squamous cell, chemorefractory CLL, head and neck, pancreatic acinar cell carcinoma, pancreatic
RG-early	RPS24	0.90211674	9.79E-09	Ribosomal subunit	BrainSpLMD|6229;Eurexp|euxassay_007446|embryo	OMIM|602412;HPO|6229|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Increased mean corpuscular volume, Macrocytic anemia, Migraine, Pallor, Persistence of hemoglobin F, Reticulocytopenia, Webbed neck
RG-early	NOG	1.425480807	1.04E-08	Secreted polypeptide	BrainSpLMD|9241;Eurexp|euxassay_009618|axial skeleton, mandible, mantle layer, nasal septum, otic capsule, phalanx, rib, sternum, thyroid, turbinate bones, ventral grey horn;BrainSpMouseDev|17888	OMIM|602991;HPO|9241|2-3 toe syndactyly, Abnormal vertebral morphology, Abnormality of the ankles, Absent distal interphalangeal creases, Absent distal phalanges, Absent fingernail, Absent phalangeal crease, Anonychia, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the nails, Aplastic/hypoplastic toenail, Autosomal dominant inheritance, Brachydactyly, Broad hallux, Broad thumb, Camptodactyly of finger, Carpal synostosis, Clinodactyly, Conductive hearing impairment, Congenital stapes ankylosis, Cubitus valgus, Cutaneous finger syndactyly, Cutaneous syndactyly of toes, Dislocated radial head, Elbow ankylosis, Elbow dislocation, Enlargement of the costochondral junction, Finger syndactyly, Fusion of midphalangeal joints, Hypermetropia, Hypoplastic nasal septum, Hypoplastic spinal processes, Long nose, Low hanging columella, Lower limb undergrowth, Metacarpophalangeal synostosis, Narrow face, Pectus excavatum, Progressive conductive hearing impairment, Progressive fusion 2nd-5th pip joints, Proximal placement of thumb, Proximal symphalangism, Proximal symphalangism of hands, Proximal/middle symphalangism of 5th finger, Radial deviation of finger, Sensorineural hearing impairment, Short 1st metacarpal, Short 5th metacarpal, Short distal phalanx of finger, Short distal phalanx of toe, Short finger, Short foot, Short hallux, Short humerus, Short lower limbs, Short philtrum, Short stature, Short sternum, Single transverse palmar crease, Spinal canal stenosis, Stapes ankylosis, Strabismus, Symphalangism affecting the phalanges of the hand, Synostosis of carpal bones, Tarsal synostosis, Thick upper lip vermilion, Thin upper lip vermilion, Toe syndactyly, Type B brachydactyly, Underdeveloped nasal alae, Waddling gait
RG-early	BIRC5	1.091255611	1.21E-08	Adapter molecule	BrainSpLMD|332	OMIM|603352
RG-early	HIST1H2BK	1.897366244	1.25E-08	DNA binding protein	BrainSpLMD|85236	OMIM|615045
RG-early	ZCCHC3	0.867413288	1.27E-08	Unclassified	BrainSpLMD|85364;Eurexp|euxassay_012888|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, humerus, mantle layer, orbito-sphenoid, pelvic girdle, rib, scapula, temporal bone, vault of skull, ventral grey horn	
RG-early	IQGAP3	0.861671718	1.39E-08	GTPase activating protein	BrainSpLMD|128239	SFARI||Autism, 4 - Minimal evidence
RG-early	MAP1B	0.487888577	1.51E-08	Cytoskeletal associated protein	BrainSpLMD|4131;Eurexp|euxassay_009367|brain, facial VII, glossopharyngeal IX, olfactory, peripheral nervous system, retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|157129
RG-early	SMC4	1.344448616	1.91E-08	Structural protein	BrainSpLMD|10051;Eurexp|euxassay_017379|incisor, liver, lung, metanephros, molar, neural retina, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|605575
RG-early	MCAM	2.248826439	2.07E-08	Adhesion molecule	BrainSpLMD|4162	OMIM|155735
RG-early	PTTG1	2.171217305	2.81E-08	Transcription regulatory protein	BrainSpLMD|9232	OMIM|604147
RG-early	PRC1	1.828587838	3.45E-08	Cell cycle control protein	BrainSpLMD|9055	OMIM|603484
RG-early	EIF1AD	1.78532497	3.82E-08	Unclassified	BrainSpLMD|84285	
RG-early	PDCD4	0.567656091	4.42E-08	Unclassified	BrainSpLMD|27250;Eurexp|euxassay_010730|epidermis, epithelium, floor plate, floorplate, larynx, olfactory, sternum, thymus primordium, urethra, ventricular layer	OMIM|608610
RG-early	RPS25	0.789521699	6.82E-08	Ribosomal subunit	BrainSpLMD|6230	OMIM|180465
RG-early	RPL21P28	1.337784717	8.41E-08			
RG-early	RPL9	0.942097652	8.66E-08	Ribosomal subunit	BrainSpLMD|6133	OMIM|603686
RG-early	EEF1D	1.640618673	8.84E-08	Guanine nucleotide exchange factor	BrainSpLMD|1936	OMIM|130592
RG-early	ATP5O	1.125304878	9.33E-08			
RG-early	HIST1H3B	0.886355994	9.99E-08	DNA binding protein	BrainSpLMD|8358	OMIM|602819;COSMIC||glioma
RG-early	RPS7P11	0.822261466	1.05E-07			
RG-early	MT.TD	0.647509635	1.11E-07			
RG-early	ANAPC16	1.033643078	1.12E-07	Unclassified	BrainSpLMD|119504	OMIM|613427
RG-early	GAPDHP65	0.338248927	1.15E-07			
RG-early	SNHG6	0.790545903	1.17E-07			OMIM|612215
RG-early	CDC25C	2.420963317	1.21E-07	Dual specificity phosphatase	BrainSpLMD|995	OMIM|157680
RG-early	ZDHHC2	1.184563433	1.21E-07	Integral membrane protein	BrainSpLMD|51201;Eurexp|euxassay_000126|abducent VI, accessory XI, autonomic, basal plate, cervico-thoracic, corpus striatum, cranial, diencephalon, dorsal root ganglion, facial VII, gland, glossopharyngeal IX, hypoglossal XII, hypothalamus, inferior, lamina terminalis, lateral wall, mandibular division, mantle layer, maxillary division, nerve plexus, oculomotor III, olfactory I, olfactory cortex, olfactory lobe, ophthalmic division, optic II, parasympathetic, spinal cord, sulcus limitans, sympathetic, tegmentum, thalamus, thoracic, trigeminal V, trochlear IV, vagus X, vestibulocochlear VIII;BrainSpMouseDev|46387	
RG-early	CENPW	1.775711118	1.33E-07	Unclassified	Eurexp|euxassay_006383|roof plate, telencephalic part of interventricular foramen, thalamus	OMIM|611264
RG-early	AC010468.1	0.590362129	1.34E-07			
RG-early	ECT2	1.233791904	1.46E-07	Guanine nucleotide exchange factor	BrainSpLMD|1894;Eurexp|euxassay_018792|marginal layer, ventricular layer	OMIM|600586
RG-early	ADAMTS9	2.316253244	1.51E-07	Metallo protease	BrainSpLMD|56999	OMIM|605421
RG-early	HSPA4L	1.34697489	1.79E-07	Heat shock protein	BrainSpLMD|22824;Eurexp|euxassay_006441|cervico-thoracic, diencephalon, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, hindbrain, left, mantle layer, mesenchyme, midbrain, midgut, neural retina, olfactory, pituitary, posterior, right, skeletal muscle, spinal cord, thoracic, thymus primordium, trachea, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	
RG-early	FAM64A	1.763332639	1.87E-07			
RG-early	PHLDA1	0.93080126	1.92E-07	Transcription factor	BrainSpLMD|22822;Eurexp|euxassay_008411|anterior, axial skeleton, bladder, cartilaginous ring, cornea, diaphragm, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, hepatic duct, hindgut, incisor, inner ear, left lung, liver, mantle layer, medulla, meninges, metanephros, midgut, molar, naso-lacrimal duct, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, right lung, skeletal muscle, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, tongue, trigeminal V, ureter, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|605335
RG-early	CAPZA1	1.034243718	2.17E-07	Structural protein	BrainSpLMD|829;Eurexp|euxassay_000273|head mesenchyme, lung	OMIM|601580
RG-early	MXD1	1.023250354	2.24E-07	Transcription regulatory protein	BrainSpLMD|4084;BrainSpMouseDev|16889	OMIM|600021
RG-early	RPSAP58	1.175377694	2.39E-07		BrainSpLMD|388524	
RG-early	TOP2A	1.136677914	2.39E-07	Enzyme: Topoisomerase	BrainSpLMD|7153	OMIM|126430;HPO|7153|Elevated urinary catecholamines, Neoplasm of the nervous system
RG-early	RPL7P1	0.784523433	2.50E-07			
RG-early	CENPK	1.122486099	2.58E-07	Unclassified	BrainSpLMD|64105	OMIM|611502
RG-early	MFAP2	1.97273159	2.65E-07	Extracellular matrix protein	BrainSpLMD|4237;Eurexp|euxassay_002967|skeleton	OMIM|156790
RG-early	PLAG1	1.544675101	3.13E-07	Transcription factor	BrainSpLMD|5324	OMIM|603026;COSMIC||salivary adenoma, lipoblastoma;HPO|5324|Autosomal dominant inheritance, Salivary gland neoplasm, Somatic mutation
RG-early	RPL10AP6	1.767597915	3.15E-07			
RG-early	HMGN5	1.085354749	3.88E-07	Transcription regulatory protein	BrainSpLMD|79366;BrainSpMouseDev|30371	OMIM|300385
RG-early	RPL41	0.684623985	3.90E-07	Unclassified	BrainSpLMD|6171	OMIM|613315
RG-early	H2AFZ	1.381835659	4.40E-07	DNA binding protein	BrainSpLMD|3015	OMIM|142763
RG-early	FTH1P10	0.915304074	4.67E-07			
RG-early	GPCPD1	1.492311344	4.87E-07	Enzyme: Phosphodiesterase	BrainSpLMD|56261	OMIM|614124
RG-early	G3BP1	0.500682802	4.93E-07	RNA binding protein;Ribonuclease	BrainSpLMD|10146	OMIM|608431
RG-early	RPS7	1.177151316	5.07E-07	Ribosomal subunit		OMIM|603658;HPO|6201|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Cleft palate, Delayed puberty, Fatigue, Hypertelorism, Macrocytic anemia, Migraine, Neutropenia, Pallor, Short nose, Short stature, Thick upper lip vermilion, Wide nasal bridge
RG-early	UBE2C	1.850301383	5.18E-07	Ubiquitin proteasome system protein	BrainSpLMD|11065	OMIM|605574
RG-early	ARRDC3	0.68985679	6.61E-07	Unclassified	BrainSpLMD|57561	OMIM|612464
RG-early	COL4A5	1.459059386	6.84E-07	Extracellular matrix protein	BrainSpLMD|1287;Eurexp|euxassay_015894|bladder, ductus deferens, floorplate, lens, lung, meninges, stomach, sublingual gland primordium, submandibular gland primordium, thyroid, umbilical artery, umbilical vein, urethra, ventricular layer;BrainSpMouseDev|12613	OMIM|303630;HPO|1287|Anterior lenticonus, Congenital cataract, Corneal erosion, Diffuse glomerular basement membrane lamellation, Diffuse leiomyomatosis, Heterogeneous, Hypertension, Hypoparathyroidism, Ichthyosis, Microscopic hematuria, Myopia, Nephritis, Nephrotic syndrome, Progressive, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidney disease, Thickening of the glomerular basement membrane, Thrombocytopenia, X-linked dominant inheritance
RG-early	MCM4	0.282263056	7.67E-07	DNA binding protein	BrainSpLMD|4173	SFARI||Autism, 4 - Minimal evidence;OMIM|602638;HPO|4173|Adrenal insufficiency, Autosomal recessive inheritance, Global developmental delay, Hepatomegaly, Intrauterine growth retardation, Lymphadenopathy, Lymphoproliferative disorder, Microcephaly, Postnatal growth retardation, Recurrent respiratory infections, Recurrent viral infections, Splenomegaly
RG-early	RPL5	1.032035307	8.10E-07	Ribosomal subunit	BrainSpLMD|6125	OMIM|603634;COSMIC||T-ALL, Diamond-Blackfan anaemia;HPO|6125|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Bifid uvula, Cleft palate, Cleft upper lip, Delayed puberty, Failure to thrive, Fatigue, Growth delay, Hypertelorism, Increased mean corpuscular volume, Macrocytic anemia, Micrognathia, Migraine, Mitral regurgitation, Mitral valve prolapse, Pallor, Patent ductus arteriosus, Persistence of hemoglobin F, Short thumb, Tetralogy of Fallot, Tracheomalacia, Ventricular hypertrophy, Ventricular septal defect
RG-early	RP11.889L3.1	0.585339983	9.70E-07			
RG-early	RPL23A	0.836852676	9.92E-07	RNA binding protein		OMIM|602326
RG-early	ATP5G2	1.017960363	1.02E-06			
RG-early	SERTAD4	1.994007218	1.10E-06	Unclassified	BrainSpLMD|56256	
RG-early	HSPA1B	0.723326035	1.10E-06	Chaperone	BrainSpLMD|3304	OMIM|603012
RG-early	RP11.192N10.2	0.308836964	1.37E-06			
RG-early	PBK	1.567965522	1.38E-06	Serine/threonine kinase	BrainSpLMD|55872;Eurexp|euxassay_018747|adrenal gland, cervical, cervico-thoracic, incisor, liver, mandible, marginal layer, maxilla, metanephros, molar, naris, neural retina, olfactory, pancreas, sublingual gland primordium, thoracic, thymus primordium, thyroid, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|611210
RG-early	MT.RNR2	0.814104601	1.50E-06			
RG-early	KIF2C	1.333860281	1.61E-06	Motor protein	BrainSpLMD|11004;Eurexp|euxassay_003601|4th ventricle, bladder, forebrain, hindbrain, hindlimb, incisor, limb, liver, lung, metanephros, midbrain, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pancreas, penis, pharyngo-tympanic tube, respiratory, retina, spinal cord, submandibular gland primordium, testis, thymus primordium, thyroid, tongue, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|604538
RG-early	NAP1L1	0.867479326	1.66E-06	Transcription regulatory protein	BrainSpLMD|4673;Eurexp|euxassay_005511|nucleus pulposus	OMIM|164060
RG-early	PNRC1	0.263986441	1.72E-06	Unclassified	BrainSpLMD|10957	OMIM|606714
RG-early	HIST1H1B	1.412063296	1.74E-06	DNA binding protein	BrainSpLMD|3009;Eurexp|euxassay_012857|marginal layer, ventricular layer	OMIM|142711
RG-early	KIF15	1.529858404	1.76E-06	Cell cycle control protein	BrainSpLMD|56992	OMIM|617569
RG-early	RRM2	1.748469434	1.94E-06	Cell cycle control protein	BrainSpLMD|6241;Eurexp|euxassay_004733|footplate, handplate, hindbrain, leg, liver, lung, mantle layer, mesenchyme, metanephros, olfactory, retina, spinal cord, tail, ventricular layer, vibrissa	OMIM|180390
RG-early	AJUBA	2.396729302	2.16E-06	Cell cycle control protein	BrainSpLMD|84962	OMIM|609066
RG-early	LDHA	1.158988533	2.16E-06	Enzyme: Dehydrogenase	BrainSpLMD|3939	OMIM|150000;HPO|3939|Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise intolerance, Increased serum lactate, Increased serum pyruvate, Juvenile onset, Muscle cramps, Muscle stiffness, Myalgia, Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Rigidity
RG-early	CACYBP	1.124248447	2.47E-06	Ubiquitin proteasome system protein	BrainSpLMD|27101;Eurexp|euxassay_006213|brain, cervical, cervico-thoracic, cortex, diencephalon, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, left, mandible, maxilla, midbrain, molar, olfactory, orbito-sphenoid, right, spinal cord, submandibular gland primordium, telencephalon, thoracic, thymus primordium, trigeminal V, vertebral axis muscle system, vibrissa	OMIM|606186
RG-early	NPM1P27	0.916075603	2.50E-06			
RG-early	SRSF3	0.391943936	2.74E-06	RNA binding protein	BrainSpLMD|6428	OMIM|603364;COSMIC||follicular lymphoma
RG-early	NFYB	1.669228437	2.80E-06	Transcription factor	BrainSpLMD|4801;BrainSpMouseDev|17812	OMIM|189904
RG-early	HIST1H4C	1.498625375	2.87E-06	DNA binding protein	BrainSpLMD|8364	OMIM|602827
RG-early	CHORDC1	0.822312384	2.97E-06	Unclassified	BrainSpLMD|26973;Eurexp|euxassay_005070|brain, olfactory, trigeminal V, vomeronasal organ	OMIM|604353
RG-early	RPS23	0.723158697	3.06E-06	Ribosomal subunit	BrainSpLMD|6228	OMIM|603683;HPO|6228|Abnormality of the pinna, Autistic behavior, Autosomal dominant inheritance, Cleft palate, Conductive hearing impairment, Depressed nasal bridge, Epicanthus, Flat occiput, Generalized hypotonia, High palate, Highly arched eyebrow, Increased number of teeth, Intellectual disability, mild, Long eyelashes, Low-set ears, Microcephaly, Motor delay, Short stature, Single transverse palmar crease, Thick eyebrow
RG-early	RPL23	0.785754945	3.28E-06	Ribosomal subunit	BrainSpLMD|9349	OMIM|603662
RG-early	RDH10	1.398325996	3.32E-06	Enzyme: Dehydrogenase	BrainSpLMD|157506;Eurexp|euxassay_005601|bladder, brain, footplate, genital tubercle, handplate, lip, mesothelium, midgut, naris, olfactory, rectum, spinal cord, stomach	OMIM|607599
RG-early	RPL18	0.908123782	3.44E-06	Ribosomal subunit	BrainSpLMD|6141	OMIM|604179
RG-early	PPIAP22	0.902459595	3.48E-06			
RG-early	CCNB2	1.08559869	3.51E-06	Cell cycle control protein	BrainSpLMD|9133;Eurexp|euxassay_004323|axial muscle, ventricular layer	OMIM|602755
RG-early	HMGA1	1.223853176	3.87E-06	DNA binding protein	BrainSpLMD|3159;Eurexp|euxassay_003457|bladder, cortex, epidermis, glomeruli, head mesenchyme, hindgut, incisor, left lung, lobe, marginal layer, midgut, neural retina, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, pituitary, rectum, respiratory, right lung, spleen primordium, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|15136	OMIM|600701;COSMIC||microfollicular thyroid adenoma, various benign mesenchymal tumours
RG-early	RPS7P1	0.963024831	3.88E-06			
RG-early	RP11.254B13.1	0.752921312	3.95E-06			
RG-early	CKB	0.853628338	4.23E-06	Enzyme: Phosphotransferase	BrainSpLMD|1152;Eurexp|euxassay_011493|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lung, mandible, mantle layer, maxilla, midgut, neural retina, oesophagus, olfactory, rectum, sternum, stomach, trigeminal V, ventral grey horn, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ, wall	OMIM|123280
RG-early	MND1	2.095307824	4.30E-06	Unclassified	BrainSpLMD|84057	OMIM|611422
RG-early	OSER1	1.229019629	4.30E-06	Unclassified	BrainSpLMD|51526	
RG-early	RPS6	0.965164318	4.35E-06	Ribosomal subunit	BrainSpLMD|6194	OMIM|180460
RG-early	RPL24P2	0.462500721	4.41E-06			
RG-early	RPS2P5	1.258334572	4.42E-06			
RG-early	HSP90AA4P	0.421699572	4.61E-06			
RG-early	DUSP16	1.004145713	4.84E-06	Dual specificity phosphatase	BrainSpLMD|80824;Eurexp|euxassay_009768|ventricular layer	OMIM|607175
RG-early	DBF4	1.393531714	4.89E-06	Cell cycle control protein	BrainSpLMD|10926;Eurexp|euxassay_012740|ventricular layer	OMIM|604281
RG-early	H1FX	1.118508838	5.23E-06	DNA binding protein	BrainSpLMD|8971;Eurexp|euxassay_003540|medulla	OMIM|602785
RG-early	CMBL	2.57992599	6.37E-06	Unclassified	BrainSpLMD|134147;Eurexp|euxassay_007377|medulla, meninges	OMIM|613379
RG-early	RP11.529H22.1	1.862611131	6.42E-06			
RG-early	ITGB8	0.476108135	6.97E-06	Cell surface receptor	BrainSpLMD|3696;Eurexp|euxassay_011385|axial skeleton, brachial plexus, nasal cavity, optic chiasma, optic nerve, phalanx, submandibular gland primordium, testis, valve, ventricular layer, vibrissa;BrainSpMouseDev|107845	OMIM|604160
RG-early	RPL39	0.817793229	7.16E-06	Ribosomal subunit		OMIM|300899
RG-early	RBBP8	1.540197718	7.30E-06	Transcription regulatory protein	BrainSpLMD|5932	OMIM|604124;HPO|5932|4-5 toe syndactyly, Abnormality of dental enamel, Absent earlobe, Absent fourth finger distal interphalangeal crease, Aggressive behavior, Autosomal recessive inheritance, Cachexia, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital microcephaly, Convex nasal ridge, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Few cafe-au-lait spots, Glaucoma, Growth delay, Hallux valgus, Heart murmur, Hip dysplasia, Hypospadias, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Microdontia, Microglossia, Micrognathia, Microphthalmia, Mild global developmental delay, Narrow face, Narrow forehead, Prematurely aged appearance, Prominent nose, Reduced number of teeth, Retrognathia, Sandal gap, Short middle phalanx of the 5th finger, Short stature, Single interphalangeal crease of fifth finger, Small for gestational age, Sparse scalp hair, Thoracic scoliosis
RG-early	KIF11	1.136380086	7.65E-06	Motor protein	BrainSpLMD|3832	OMIM|148760;HPO|3832|Abnormal toenail morphology, Abnormality of retinal pigmentation, Anteverted nares, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Broad nasal tip, Chorioretinal dysplasia, Cortical gyral simplification, Deep philtrum, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Flat occiput, Global developmental delay, Intellectual disability, Intellectual disability, mild, Leukonychia, Long philtrum, Lymphedema, Mandibular prognathia, Melanonychia, Microcephaly, Muscular hypotonia, Myopia, Protruding ear, Sloping forehead, Specific learning disability, Thick lower lip vermilion, Thin upper lip vermilion
RG-early	AHSA1	0.992292063	8.24E-06	Unclassified	BrainSpLMD|10598	OMIM|608466
RG-early	RAN	1.204692365	8.47E-06	GTPase	BrainSpLMD|5901	OMIM|601179
RG-early	TCF7L1	1.879190721	8.82E-06	Transcription regulatory protein	BrainSpLMD|83439;BrainSpMouseDev|21176	OMIM|604652
RG-early	CKS1B	1.710250709	8.97E-06	Cell cycle control protein		OMIM|116900
RG-early	RTKN2	1.250553454	9.82E-06	Unclassified	BrainSpLMD|219790	
RG-early	TWISTNB	1.494992093	9.96E-06	Transcription factor	BrainSpLMD|221830	OMIM|608312
RG-early	CENPU	1.580899452	1.04E-05	Unclassified	BrainSpLMD|79682	OMIM|611511
RG-early	CCDC59	1.268309057	1.06E-05	Unclassified	BrainSpLMD|29080	
RG-early	SELK	1.351841865	1.08E-05			
RG-early	ZFP36L2	0.431093257	1.15E-05	Transcription factor	BrainSpLMD|678	OMIM|612053
RG-early	RNF139	0.955993528	1.23E-05	Integral membrane protein	BrainSpLMD|11236	OMIM|603046;HPO|11236|Renal cell carcinoma, Sporadic
RG-early	GLI2	2.132930482	1.24E-05	Transcription factor	BrainSpLMD|2736;Eurexp|euxassay_008920|marginal layer, ventricular layer;BrainSpMouseDev|14409	OMIM|165230;HPO|2736|Abnormal cortical gyration, Abnormal prolactin level, Abnormality of secondary sexual hair, Agenesis of incisor, Amenorrhea, Anophthalmia, Anterior pituitary agenesis, Anterior pituitary hypoplasia, Aplasia/Hypoplasia of the breasts, Autosomal dominant inheritance, Bilateral cleft lip and palate, Cryptorchidism, Decreased circulating ACTH level, Decreased testicular size, Dental malocclusion, Depressed nasal bridge, Depressed nasal ridge, Ectopic posterior pituitary, Fatigue, Global developmental delay, Growth hormone deficiency, Holoprosencephaly, Hydrocephalus, Hypoglycemia, Hypogonadotrophic hypogonadism, Hypopituitarism, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Hypotelorism, Hypotension, Incomplete penetrance, Infertility, Macrotia, Malar flattening, Microcephaly, Micropenis, Microphthalmia, Midface retrusion, Optic nerve hypoplasia, Osteopenia, Panhypopituitarism, Partial agenesis of the corpus callosum, Pituitary hypothyroidism, Postaxial hand polydactyly, Prominent antihelix, Seizures, Short hard palate, Short philtrum, Short stature, Single median maxillary incisor, Single naris, Sporadic, Underdeveloped tragus, Variable expressivity
RG-early	XPO1	1.14435478	1.37E-05	Transport/cargo protein	BrainSpLMD|7514	SFARI||Autism, 4 - Minimal evidence;OMIM|602559;COSMIC||CLL
RG-early	NOTCH3	0.593827754	1.42E-05	Cell surface receptor	BrainSpLMD|4854;BrainSpMouseDev|17898	OMIM|600276;HPO|4854|Abnormal electroretinogram, Abnormal form of the vertebral bodies, Abnormality of the hair, Abnormality of the metaphysis, Abnormality of the middle ear ossicles, Abnormality of the musculature, Abnormality of the rib cage, Abnormality of the skin, Abnormality of the skull, Abnormality of the thorax, Abnormality of visual evoked potentials, Adult onset, Amaurosis fugax, Aphasia, Arachnoid cyst, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Autosomal dominant inheritance, Biconcave vertebral bodies, Bone cyst, Cerebral cortical atrophy, Cerebral ischemia, Chondrocalcinosis, Coarse hair, Coma, Conductive hearing impairment, Confusion, Cranial nerve paralysis, Craniofacial hyperostosis, Cryptorchidism, Dementia, Dental crowding, Depressivity, Developmental regression, Dolichocephaly, Downslanted palpebral fissures, Dural ectasia, EEG abnormality, Elevated serum creatine phosphokinase, Fever, Gait disturbance, Generalized hypotonia, Gingival fibromatosis, Hemiplegia, High palate, High, narrow palate, Hypertelorism, Impaired pain sensation, Inguinal hernia, Joint hyperflexibility, Joint hypermobility, Kyphosis, Leukoencephalopathy, Long philtrum, Low posterior hairline, Low-set ears, Malar flattening, Memory impairment, Meningocele, Micrognathia, Migraine, Motor delay, Narrow face, Neoplasm of the lung, Neoplasm of the skin, Nonarteritic anterior ischemic optic neuropathy, Patent ductus arteriosus, Pectus excavatum, Platybasia, Posteriorly rotated ears, Prominent metopic ridge, Pseudobulbar paralysis, Ptosis, Recurrent subcortical infarcts, Retinal arteriolar tortuosity, Sclerosis of skull base, Scoliosis, Seizures, Sensory neuropathy, Short nasal bridge, Short neck, Short stature, Smooth philtrum, Spasticity, Stroke, Subcortical dementia, Subcutaneous nodule, Syringomyelia, Umbilical hernia, Urinary incontinence, Varicose veins, Vertebral fusion, Visual impairment, Wormian bones
RG-early	TTK	1.782568514	1.43E-05	Dual specificity kinase	BrainSpLMD|7272	OMIM|604092
RG-early	SLC25A37	0.879380946	1.56E-05	Transport/cargo protein	BrainSpLMD|51312;Eurexp|euxassay_007768|liver, mesenchyme	OMIM|610387
RG-early	DDIT3	1.50161935	1.58E-05	Transcription factor	BrainSpLMD|1649;Eurexp|euxassay_009824|olfactory;BrainSpMouseDev|12978	OMIM|126337;COSMIC||liposarcoma;HPO|1649|Myxoid liposarcoma, Somatic mutation, Subcutaneous nodule
RG-early	YBX3	0.349358949	1.59E-05	DNA binding protein	BrainSpLMD|8531	OMIM|603437
RG-early	OTX1	2.24830952	1.66E-05	Transcription factor	BrainSpLMD|5013;Eurexp|euxassay_004727|brain, conjunctival sac, dorsal root ganglion, epithelium, glossopharyngeal IX, incisor, naris, naso-lacrimal duct, neural retina, olfactory, oral epithelium, respiratory, spinal cord, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|18190	SFARI||Autism, 4 - Minimal evidence;OMIM|600036
RG-early	H3F3B	0.488914294	1.70E-05	DNA binding protein	BrainSpLMD|3021;Eurexp|euxassay_005704|embryo	OMIM|601058;COSMIC||chondroblastoma
RG-early	RPL14P1	0.727686086	1.76E-05			
RG-early	RPLP2	0.635467491	1.78E-05	Ribosomal subunit		OMIM|180530
RG-early	RP11.742N3.1	0.604057066	1.79E-05			
RG-early	FTH1P5	0.514539254	1.86E-05			
RG-early	CDKN3	1.670309198	1.86E-05	Dual specificity phosphatase	BrainSpLMD|1033;Eurexp|euxassay_014422|axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, orbito-sphenoid, pelvic girdle, temporal bone, tibia, turbinate, vault of skull	OMIM|123832
RG-early	NOP58	1.121083677	1.97E-05	RNA binding protein	BrainSpLMD|51602	OMIM|616742
RG-early	RPL35	0.970036313	2.05E-05	Ribosomal subunit	BrainSpLMD|11224	
RG-early	MDM4	0.585310362	2.10E-05	Ubiquitin proteasome system protein	BrainSpLMD|4194	OMIM|602704;COSMIC||glioblastoma, bladder, retinoblastoma
RG-early	ZIC5	1.639193883	2.13E-05	DNA binding protein	BrainSpLMD|85416;BrainSpMouseDev|41618	
RG-early	RPS2	1.161251185	2.41E-05	Ribosomal subunit	BrainSpLMD|6187;Eurexp|euxassay_005928|embryo	OMIM|603624
RG-early	ABHD3	1.395224357	2.60E-05	Unclassified	BrainSpLMD|171586;Eurexp|euxassay_005011|choroid plexus, lateral recess, mantle layer, olfactory, urethra	OMIM|612197
RG-early	PPM1D	1.629170061	2.61E-05	Serine/threonine phosphatase	BrainSpLMD|8493	SFARI||Autism, No category;OMIM|605100;COSMIC||glioma, ovarian cancer, breast cancer;HPO|8493|Anteverted nares, Anxiety, Attention deficit hyperactivity disorder, Autistic behavior, Autosomal dominant inheritance, Brachydactyly, Breast carcinoma, Broad forehead, Broad-based gait, Constipation, Delayed speech and language development, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Heterogeneous, Hyperlordosis, Hypermetropia, Intellectual disability, Low-set ears, Obsessive-compulsive behavior, Posteriorly rotated ears, Short foot, Short stature, Small hand, Small nail, Strabismus, Thin upper lip vermilion, Vomiting, Wide mouth
RG-early	ZNF516	1.002570618	2.70E-05	DNA binding protein	BrainSpLMD|9658;Eurexp|euxassay_019569|metanephros, olfactory, pituitary, testis, ventricular layer, vomeronasal organ;BrainSpMouseDev|108583	OMIM|615114
RG-early	RPL29	0.768082885	2.77E-05	Ribosomal subunit		OMIM|601832
RG-early	ELL2	1.288927217	2.81E-05	Transcription factor	BrainSpLMD|22936	OMIM|601874
RG-early	RFX4	1.356313744	2.87E-05	DNA binding protein	BrainSpLMD|5992;Eurexp|euxassay_005798|ventricular layer;BrainSpMouseDev|46978	OMIM|603958
RG-early	DNAJB4	0.988696597	3.00E-05	Heat shock protein	BrainSpLMD|11080	OMIM|611327
RG-early	RPL5P9	0.347437903	3.20E-05			
RG-early	SLC5A3	1.475708367	3.25E-05	Transport/cargo protein	BrainSpLMD|6526;Eurexp|euxassay_019742|axial muscle, cervical region, choroid plexus, extrinsic ocular muscle, nasal septum, pelvic girdle, rectum, turbinate bones, ventricular layer	OMIM|600444
RG-early	TCF7L2	1.620721231	3.37E-05	Transcription factor	BrainSpLMD|6934;Eurexp|euxassay_019472|lip, mantle layer, mesenchyme, midgut, pancreas, phalanx, skeletal muscle, sternum, stomach, trachea, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|21177	SFARI||Autism, 3 - Suggestive evidence;OMIM|602228;COSMIC||colorectal
RG-early	RPL14	0.664702274	3.40E-05	Ribosomal subunit	BrainSpLMD|9045;Eurexp|euxassay_003114|nucleus pulposus	OMIM|617414
RG-early	AC000089.3	0.680010351	3.69E-05			
RG-early	WEE1	0.885130931	3.75E-05	Dual specificity kinase	BrainSpLMD|7465;Eurexp|euxassay_016462|hindgut, lung, midgut, stomach, submandibular gland primordium, ventricular layer	OMIM|193525
RG-early	GABARAP	1.152602969	3.77E-05	Unclassified	BrainSpLMD|11337	OMIM|605125
RG-early	PPIAP29	0.570538343	3.83E-05			
RG-early	UBE2Q2P6	0.711401434	4.12E-05			
RG-early	UBE2T	1.486917647	4.13E-05	Ubiquitin proteasome system protein	BrainSpLMD|29089;Eurexp|euxassay_004872|olfactory, respiratory, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|610538;HPO|29089|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bone marrow hypocellularity, Duplication of thumb phalanx, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pancytopenia, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Thrombocytopenia
RG-early	RP11.1033A18.1	0.58412641	4.15E-05			
RG-early	ZEB1	0.986547729	4.18E-05	Transcription factor	BrainSpLMD|6935;Eurexp|euxassay_015398|central nervous system, meninges, vertebral axis muscle system;BrainSpMouseDev|21178	OMIM|189909;COSMIC||CCRCC, melanoma;HPO|6935|Autosomal dominant inheritance, Corneal dystrophy, Corneal guttata
RG-early	NFIL3	1.068469884	4.29E-05	Transcription factor	BrainSpLMD|4783;Eurexp|euxassay_002657|diencephalon, dorsal root ganglion, hindbrain, mantle layer, marginal layer, midbrain, pharyngo-tympanic tube, spinal cord, vibrissa;BrainSpMouseDev|17797	OMIM|605327
RG-early	FGFR3	2.061533196	4.44E-05	Receptor tyrosine kinase;Tyrosine kinase	BrainSpLMD|2261;Eurexp|euxassay_006120|embryo;BrainSpMouseDev|13961	OMIM|134934;COSMIC||bladder, MM, T-cell lymphoma, Hypochondroplasia, Thanatophoric dysplasia;HPO|2261|2-3 finger syndactyly, Abnormal form of the vertebral bodies, Abnormality of femur morphology, Abnormality of lower limb joint, Abnormality of metabolism/homeostasis, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the cervical spine, Abnormality of the clavicle, Abnormality of the elbow, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the ribs, Absence of Stensen duct, Absent lacrimal punctum, Absent proximal phalanx of thumb, Absent radius, Acanthosis nigricans, Alacrima, Anteverted nares, Aplasia of the parotid gland, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the mandible, Aplasia/hypoplasia of the extremities, Arachnodactyly, Arnold-Chiari malformation, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bilateral triphalangeal thumbs, Blepharospasm, Bowing of the long bones, Brachycephaly, Brachydactyly, Brain atrophy, Brain stem compression, Broad femoral metaphyses, Broad forehead, Broad hallux, Camptodactyly of finger, Camptodactyly of toe, Capitate-hamate fusion, Carious teeth, Carpal synostosis, Central apnea, Childhood onset short-limb short stature, Choanal atresia, Chronic otitis media, Clinodactyly, Clinodactyly of the 5th finger, Cloverleaf skull, Cognitive impairment, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Conical incisor, Convex nasal ridge, Corneal perforation, Coronal craniosynostosis, Coronal hypospadias, Craniosynostosis, Cryptorchidism, Cupped ear, Dacryocystitis, Decreased fetal movement, Delayed cranial suture closure, Delayed eruption of primary teeth, Dental crowding, Dental malocclusion, Depressed nasal bridge, Diaphyseal thickening, Downslanted palpebral fissures, Enlarged cerebellum, Excessive wrinkled skin, External ear malformation, Facial asymmetry, Femoral bowing, Fibular bowing, Finger syndactyly, Flared metaphysis, Flat face, Frontal bossing, Generalized joint laxity, Generalized seizures, Genu varum, Global developmental delay, Gonadal dysgenesis, Hearing impairment, Hereditary nonpolyposis colorectal carcinoma, Heterotopia, High forehead, High palate, High, narrow palate, Hydrocephalus, Hyperextensible skin, Hyperhidrosis, Hyperlordosis, Hypertelorism, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the corpus callosum, Hypoplasia of the lacrimal puncta, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic ilia, Hypoplastic lacrimal duct, Increased intracranial pressure, Increased nuchal translucency, Increased vertebral height, Infantile muscular hypotonia, Inflammatory abnormality of the eye, Intellectual disability, Intellectual disability, profound, Intellectual disability, severe, Intrauterine growth retardation, Joint contracture of the hand, Joint hyperflexibility, Kyphosis, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Lethal short-limbed short stature, Limited elbow extension, Limited hip extension, Long thorax, Low anterior hairline, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Macrocephaly, Malar flattening, Megalencephaly, Melanocytic nevus, Mesomelia, Metaphyseal chondrodysplasia, Metaphyseal irregularity, Microcephaly, Micromelia, Microtia, Midface retrusion, Mixed hearing impairment, Motor delay, Muscular hypotonia, Narrow chest, Narrow internal auditory canal, Narrow palate, Narrow sacroiliac notch, Nasolacrimal duct obstruction, Neonatal death, Neonatal short-limb short stature, Neoplasm, Neoplasm of the stomach, Nephrosclerosis, Numerous nevi, Obesity, Obstructive sleep apnea, Open bite, Osteochondroma, Otitis media, Partial duplication of thumb phalanx, Pectus excavatum, Periorbital fullness, Plagiocephaly, Platyspondyly, Polyhydramnios, Preaxial polydactyly, Prominent crus of helix, Prominent nasal bridge, Proptosis, Ptosis, Radial deviation of finger, Radial deviation of the 3rd finger, Recurrent corneal erosions, Recurrent otitis media, Redundant skin, Renal agenesis, Renal cell carcinoma, Respiratory insufficiency, Rhizomelia, Scoliosis, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe platyspondyly, Severe short stature, Short femoral neck, Short femur, Short foot, Short long bone, Short middle phalanx of finger, Short middle phalanx of toe, Short palm, Short ribs, Short sacroiliac notch, Short stature, Short thorax, Short toe, Skeletal dysplasia, Sleep apnea, Small abnormally formed scapulae, Small face, Small foramen magnum, Small thenar eminence, Somatic mutation, Spinal stenosis with reduced interpedicular distance, Split hand, Sporadic, Strabismus, Tall stature, Tarsal synostosis, Telecanthus, Teratoma, Thimble-shaped middle phalanges of hand, Tibial bowing, Transitional cell carcinoma of the bladder, Trident hand, Turricephaly, Underdeveloped supraorbital ridges, Upper airway obstruction, Uterine leiomyosarcoma, Ventriculomegaly, Visual field defect, Wide anterior fontanel, Wide-cupped costochondral junctions, Wormian bones, Xerostomia
RG-early	PRDX6	0.752537158	4.58E-05	Enzyme: Peroxidase	BrainSpLMD|9588;Eurexp|euxassay_018727|floor plate, floorplate, hepatic duct, left lung, liver, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, olfactory, pancreas, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|602316
RG-early	HSP90AA1	0.846802454	4.68E-05	Chaperone	BrainSpLMD|3320;Eurexp|euxassay_010007|cervical, cervico-thoracic, choroid plexus, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, mandible, mantle layer, midgut, molar, neural retina, olfactory, pancreas, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, vagus X, ventral grey horn, ventricular layer, vomeronasal organ	OMIM|140571;COSMIC||NHL
RG-early	FTH1P7	0.899563231	4.77E-05			
RG-early	C14orf23	1.367334496	4.89E-05			
RG-early	ANLN	0.774417134	4.91E-05	Structural protein	BrainSpLMD|54443;Eurexp|euxassay_004352|ventricular layer	OMIM|616027;HPO|54443|Autosomal dominant inheritance, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease
RG-early	MT.RNR1	0.877881535	4.98E-05			
RG-early	MASP1	1.726324524	4.99E-05	Serine protease	BrainSpLMD|5648	OMIM|600521;HPO|5648|Abnormality of eye movement, Abnormality of the anterior chamber, Atrial septal defect, Autosomal recessive inheritance, Bilateral cryptorchidism, Blepharophimosis, Broad foot, Caudal appendage, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Conductive hearing impairment, Conjunctival telangiectasia, Coronal craniosynostosis, Craniosynostosis, Dental crowding, Diastasis recti, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus inversus, Glaucoma, Growth delay, Hearing impairment, Highly arched eyebrow, Hydronephrosis, Hyperlordosis, Hypertelorism, Intellectual disability, Intellectual disability, mild, Lambdoidal craniosynostosis, Large fleshy ears, Limited pronation/supination of forearm, Microcephaly, Omphalocele, Oral cleft, Patent ductus arteriosus, Postnatal growth retardation, Ptosis, Radioulnar synostosis, Sacral dimple, Scoliosis, Short 5th finger, Short foot, Single interphalangeal crease of fifth finger, Skull asymmetry, Spina bifida occulta, Supernumerary nipple, Telecanthus, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide anterior fontanel
RG-early	HSPA1A	0.39210425	5.14E-05	Chaperone	BrainSpLMD|3303;Eurexp|euxassay_005687|adrenal gland, testis, vibrissa	OMIM|140550
RG-early	EIF1B	0.799688758	5.35E-05	Translation regulatory protein	BrainSpLMD|10289;Eurexp|euxassay_011475|mantle layer, ventricular layer	
RG-early	CDK1	1.088467482	5.50E-05	Serine/threonine kinase	BrainSpLMD|983	OMIM|116940
RG-early	C1orf61	0.772664897	5.50E-05	Transcription regulatory protein	BrainSpLMD|10485	
RG-early	RPL7P9	0.654293956	5.59E-05			
RG-early	TAF7	0.873818918	5.90E-05	Transcription factor	BrainSpLMD|6879;Eurexp|euxassay_005528|testis;BrainSpMouseDev|23825	OMIM|600573
RG-early	THUMPD3.AS1	0.97965382	5.99E-05			
RG-early	HEY1	2.00353091	6.14E-05	Transcription factor	BrainSpLMD|23462;Eurexp|euxassay_005307|calyces, mandible, maxilla, olfactory, orbito-sphenoid, pituitary, respiratory, thymus primordium, ventricular layer;BrainSpMouseDev|14989	OMIM|602953;COSMIC||mesenchymal chondrosarcoma
RG-early	RP13.585F24.1	0.466434402	6.15E-05			
RG-early	HMGN2P3	0.547033686	6.24E-05			
RG-early	SCAF11	0.288477617	6.39E-05	RNA binding protein	BrainSpLMD|9169;Eurexp|euxassay_014100|ventricle, ventricular layer	OMIM|603668
RG-early	JAM3	0.314250429	6.42E-05	Adhesion molecule	BrainSpLMD|83700;Eurexp|euxassay_000180|cerebral cortex, chondrocranium, diaphragm, head mesenchyme, limb, mantle layer, mesenchyme, tongue, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|58180	OMIM|606871;HPO|83700|Autosomal recessive inheritance, Cataract, Congenital onset, Global developmental delay, Hepatomegaly, Hyperreflexia, Postnatal microcephaly, Seizures, Spasticity, Ventriculomegaly
RG-early	HIST1H1D	1.267054363	6.43E-05	DNA binding protein	BrainSpLMD|3007;Eurexp|euxassay_000515|marginal layer, ventricular layer	OMIM|142210
RG-early	TIPARP	0.33014735	6.61E-05	DNA binding protein	BrainSpLMD|25976	OMIM|612480
RG-early	CHEK1	0.856286171	6.71E-05	Serine/threonine kinase	BrainSpLMD|1111	OMIM|603078
RG-early	SEMA5A	0.97172498	6.90E-05	Unclassified	BrainSpLMD|9037;BrainSpMouseDev|20119	SFARI||Autism, 3 - Suggestive evidence;OMIM|609297;HPO|9037|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
RG-early	BARD1	0.958983931	6.91E-05	Transcription regulatory protein	BrainSpLMD|580	OMIM|601593;COSMIC||breast cancer, ovarian cancer, breast cancer, endometrioid cancer;HPO|580|Abnormality of the fallopian tube, Breast carcinoma, Ovarian neoplasm, Primary peritoneal carcinoma
RG-early	MSI1	0.494265021	7.28E-05	RNA binding protein	BrainSpLMD|4440	OMIM|603328
RG-early	ZNF844	2.208431346	7.31E-05		BrainSpLMD|284391	
RG-early	CDCA3	2.075155515	7.47E-05	Unclassified	BrainSpLMD|83461;Eurexp|euxassay_004852|cortex, left, marginal layer, mesenchyme, olfactory, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventral grey horn, ventricular layer	OMIM|607749
RG-early	RPLP0P6	0.809441098	7.76E-05			
RG-early	PPAP2B	1.083719458	7.96E-05			
RG-early	HSP90B1	1.036029747	8.08E-05	Heat shock protein	BrainSpLMD|7184;Eurexp|euxassay_000099|body-wall mesenchyme, dermis, epidermis, nucleus pulposus	OMIM|191175
RG-early	RPS2P55	0.574909582	8.21E-05			
RG-early	RPS18	0.79983014	8.24E-05	Ribosomal subunit	BrainSpLMD|6222	OMIM|180473
RG-early	SERF2	0.84718879	8.95E-05	RNA binding protein	BrainSpLMD|10169;Eurexp|euxassay_007238|cranium	OMIM|605054
RG-early	PTGES3	0.713758462	8.96E-05	Chaperone		OMIM|607061
RG-early	SMC2	0.962266567	9.55E-05	Unclassified	BrainSpLMD|10592;Eurexp|euxassay_011062|cortex, dorsal grey horn, incisor, lobe, lung, marginal layer, molar, orbito-sphenoid, submandibular gland primordium, thymus primordium, turbinate bones, ventral grey horn, ventricular layer, vibrissa	OMIM|605576
RG-early	TOMM5	1.004865853	9.77E-05	Unclassified		OMIM|616169
RG-early	TSPAN6	1.92246252	0.000100686	Cell surface receptor	BrainSpLMD|7105;Eurexp|euxassay_004870|incisor, mandible, maxilla, molar	OMIM|300191
RG-early	KIF18A	1.288501701	0.000102058	Motor protein	BrainSpLMD|81930	OMIM|611271
RG-early	PVRL3	1.3436734	0.00010447			
RG-early	ATF3	0.36234497	0.000109848	Transcription regulatory protein	BrainSpLMD|467;Eurexp|euxassay_006681|femur, humerus, ventricle;BrainSpMouseDev|11697	OMIM|603148
RG-early	NET1	0.60515081	0.000120126	Guanine nucleotide exchange factor	BrainSpLMD|10276	OMIM|606450
RG-early	HMGN3	0.813514387	0.000122383	DNA binding protein	BrainSpLMD|9324;Eurexp|euxassay_010528|lens, olfactory;BrainSpMouseDev|60980	OMIM|604502
RG-early	MDK	1.141427781	0.000123381	Cytokine	BrainSpLMD|4192;Eurexp|euxassay_000525|anal region, gut, head mesenchyme, lung, mesenchyme, metanephros, penis, physiological umbilical hernia, spleen primordium, trunk mesenchyme, ventricular layer	OMIM|162096
RG-early	RPL13AP5	0.432301545	0.000124614			
RG-early	SGOL2	0.734167346	0.000125847			
RG-early	RPS2P46	1.086609985	0.000129083			
RG-early	SNHG15	1.624777491	0.000130554			
RG-early	ASPM	0.779123223	0.000131674	Unclassified	BrainSpLMD|259266	SFARI||Autism, 3 - Suggestive evidence;OMIM|605481;HPO|259266|Abnormal cortical bone morphology, Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Congenital onset, Cortical gyral simplification, Delayed speech and language development, Global developmental delay, Heterotopia, Highly arched eyebrow, Hyperreflexia, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Motor delay, Narrow forehead, Pachygyria, Proptosis, Short stature, Sloping forehead, Small cerebral cortex, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
RG-early	CKAP2	1.393880787	0.000137617	Cytoskeletal associated protein	BrainSpLMD|26586;Eurexp|euxassay_001740|thymus primordium, ventricular layer	OMIM|611569
RG-early	RPS27A	0.722367767	0.000138527	Ubiquitin proteasome system protein		OMIM|191343
RG-early	RPS3	0.719950269	0.000140493	Ribosomal subunit		OMIM|600454
RG-early	MKI67	0.905638639	0.000141278	Cell cycle control protein	BrainSpLMD|4288	OMIM|176741
RG-early	DARS	1.874548038	0.000142071	ATPase	BrainSpLMD|1615	OMIM|603084;HPO|1615|Autosomal recessive inheritance, Babinski sign, CNS hypomyelination, Hyperreflexia, Hypoplasia of the corpus callosum, Infantile onset, Leukoencephalopathy, Motor delay, Muscular hypotonia of the trunk, Nystagmus, Progressive, Spasticity
RG-early	AC107081.5	1.229589555	0.000144304			
RG-early	RP11.3P17.3	0.597898511	0.000144409			
RG-early	RPL6P27	0.790283893	0.000144545			
RG-early	ST7.OT4	1.702861746	0.000149325			
RG-early	USP1	0.512466	0.000150187	Ubiquitin proteasome system protein	BrainSpLMD|7398	OMIM|603478
RG-early	PHLPP1	0.555114023	0.000151714	Unclassified	BrainSpLMD|23239;Eurexp|euxassay_010722|ventricular layer	OMIM|609396
RG-early	GSK3B	0.999914039	0.000163325	Serine/threonine kinase	BrainSpLMD|2932;Eurexp|euxassay_004227|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, retina, spinal cord, thoracic, trigeminal V;BrainSpMouseDev|35917	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605004
RG-early	FKBP10	0.481551243	0.000164946	Unclassified	BrainSpLMD|60681	OMIM|607063;HPO|60681|Abnormality of the skin, Ankle contracture, Aplasia/Hypoplasia of the patella, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Biconcave vertebral bodies, Blue sclerae, Brachycephaly, Coxa vara, Dentinogenesis imperfecta, Elbow flexion contracture, Elevated alkaline phosphatase, Gait disturbance, Hip contracture, Increased susceptibility to fractures, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Protrusio acetabuli, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes, Talipes equinovarus, Triangular face, Vertebral compression fractures, Vertebral wedging, Wormian bones
RG-early	DPM1	1.050813912	0.0001662	Enzyme: Synthase	BrainSpLMD|8813	OMIM|603503;HPO|8813|Abnormal macular morphology, Abnormality of vision, Ankle contracture, Ataxia, Autosomal recessive inheritance, Camptodactyly, Cortical visual impairment, Depressed nasal bridge, Downslanted palpebral fissures, EEG abnormality, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Failure to thrive, Flat occiput, Generalized hypotonia, Hemangioma, Hepatomegaly, High, narrow palate, Hypertelorism, Infantile onset, Knee flexion contracture, Lower limb hyperreflexia, Microcephaly, Micrognathia, Muscular dystrophy, Muscular hypotonia, Nail dysplasia, Nystagmus, Optic atrophy, Patent ductus arteriosus, Pontocerebellar atrophy, Postnatal microcephaly, Progressive, Prolonged partial thromboplastin time, Reduced antithrombin III activity, Reduced protein C activity, Reduced protein S activity, Respiratory distress, Retinopathy, Seizures, Severe global developmental delay, Short palm, Small hand, Smooth philtrum, Splenomegaly, Strabismus, Telangiectasia, Tremor, Type I transferrin isoform profile, Upper limb undergrowth, Variable expressivity
RG-early	TBL1X	0.759152799	0.000172961	Cell cycle control protein	BrainSpLMD|6907	SFARI||Autism, 4 - Minimal evidence;OMIM|300196
RG-early	GPC4	0.796969424	0.000177593	Integral membrane protein	BrainSpLMD|2239;Eurexp|euxassay_004882|aorta, bladder, clavicle, cochlea, diaphragm, dorsal grey horn, extrinsic ocular muscle, handplate, hindgut, lung, mandible, mantle layer, maxilla, maxillary division, medulla, mesenchyme, metanephros, midgut, pancreas, penis, pharyngo-tympanic tube, skeletal muscle, sternum, stomach, submandibular gland primordium, testis, thymus primordium, ventral grey horn, ventricular layer, vertebral axis muscle system	SFARI||Autism, 3 - Suggestive evidence;OMIM|300168;HPO|2239|2-3 finger syndactyly, Abnormal lung lobation, Abnormality of the helix, Abnormality of the ribs, Accelerated skeletal maturation, Agenesis of corpus callosum, Anteverted nares, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Birth length greater than 97th percentile, Broad foot, Broad palm, Broad secondary alveolar ridge, Broad thumb, Broad toe, Bundle branch block, Camptodactyly of finger, Cardiomyopathy, Cerebellar vermis hypoplasia, Cervical ribs, Cleft palate, Clinodactyly of the 5th finger, Coarse facial features, Congenital diaphragmatic hernia, Cryptorchidism, Death in infancy, Dental malocclusion, Depressed nasal bridge, Diastasis recti, Downslanted palpebral fissures, Duplication of renal pelvis, Enlarged kidney, Epicanthus, Finger syndactyly, Flared iliac wings, Generalized hypotonia, Hearing impairment, Hepatomegaly, Heterogeneous, High, narrow palate, Hydrocephalus, Hydronephrosis, Hydroureter, Hypertelorism, Hypoglycemia, Hypospadias, Increased IgE level, Inguinal hernia, Intestinal malrotation, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Mandibular prognathia, Meckel diverticulum, Multicystic kidney dysplasia, Nail dysplasia, Narrow sacroiliac notch, Nephroblastoma, Neurological speech impairment, Omphalocele, Pancreatic islet-cell hyperplasia, Patent ductus arteriosus, Pectus excavatum, Polyhydramnios, Polysplenia, Postaxial hand polydactyly, Posterior helix pit, Preauricular pit, Preauricular skin tag, Prolonged QT interval, Pulmonic stenosis, Renal cyst, Scoliosis, Short 2nd finger, Short distal phalanx of finger, Short foot, Short neck, Short nose, Short palm, Short sacroiliac notch, Short toe, Six lumbar vertebrae, Small nail, Somatic mutation, Splenomegaly, Submucous cleft lip, Supernumerary nipple, Talipes equinovarus, Tall stature, Toe syndactyly, Transposition of the great arteries, Two carpal ossification centers present at birth, Umbilical hernia, Ureteral duplication, Ventricular septal defect, Vertebral fusion, Vertebral segmentation defect, Webbed neck, Wide mouth, Wide nasal bridge, X-linked recessive inheritance
RG-early	DUSP10	0.855689576	0.000179078	Enzyme: Phosphatase;Enzyme: Phosphohydrolase	BrainSpLMD|11221	OMIM|608867
RG-early	PPIL4	1.18835472	0.000179677	Chaperone	BrainSpLMD|85313	OMIM|607609
RG-early	GNG5	1.267443464	0.000180223	G protein	BrainSpLMD|2787;Eurexp|euxassay_007798|embryo	OMIM|600874
RG-early	ASNS	0.604977833	0.000180958	Enzyme: Synthase	BrainSpLMD|440;Eurexp|euxassay_004453|dorsal root ganglion, facial VII, floorplate, glossopharyngeal IX, incisor, liver, lung, mantle layer, marginal layer, midgut, naso-lacrimal duct, pancreas, retina, skeletal muscle, stomach, trigeminal V, vagus X	OMIM|108370;HPO|440|Autosomal recessive inheritance, Cerebellar hypoplasia, Cortical dysplasia, Cortical gyral simplification, Cortical visual impairment, Delayed myelination, Encephalopathy, Exaggerated startle response, Failure to thrive, Feeding difficulties, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Hypsarrhythmia, Large hands, Long foot, Macrotia, Microcephaly, Micrognathia, Muscular hypotonia of the trunk, Profound global developmental delay, Progressive, Progressive microcephaly, Respiratory insufficiency, Seizures, Sloping forehead, Spastic tetraplegia, Ventriculomegaly
RG-early	HMGB1	0.794037187	0.000188424	DNA binding protein	BrainSpMouseDev|15064	OMIM|163905
RG-early	CCNL1	0.70233315	0.000190104	RNA binding protein	BrainSpLMD|57018	OMIM|613384
RG-early	BTG3	1.087991915	0.000190174	Cell cycle control protein	BrainSpLMD|10950	OMIM|605674
RG-early	FTH1	0.981610382	0.000193925	Storage protein	BrainSpLMD|2495	OMIM|134770;HPO|2495|Autosomal dominant inheritance, Increased serum ferritin
RG-early	NFKBIA	0.530961388	0.000195923	Transcription regulatory protein	BrainSpLMD|4792;Eurexp|euxassay_009409|anterior, mandible, maxilla, molar, naris, thymus primordium;BrainSpMouseDev|17802	OMIM|164008;HPO|4792|Anhidrosis, Anhidrotic ectodermal dysplasia, Aplasia of the sweat glands, Autosomal dominant inheritance, Concave nasal ridge, Conical tooth, Frontal bossing, Heat intolerance, Hypodontia, Hypohidrosis, Infantile onset, Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Sparse hair
RG-early	PAPOLA	0.795768262	0.00019627	RNA binding protein	BrainSpLMD|10914	OMIM|605553
RG-early	CYCS	0.584241925	0.000196728	Enzyme: Oxidase	BrainSpLMD|54205;Eurexp|euxassay_000644|Meckel's cartilage, basal plate, calyces, chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, molar, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|123970;HPO|54205|Autosomal dominant inheritance, Thrombocytopenia
RG-early	NUP155	0.860841478	0.000198948	Transport/cargo protein	BrainSpLMD|9631	OMIM|606694;HPO|9631|Atrial fibrillation, Atrial flutter, Autosomal recessive inheritance
RG-early	SHISA2	0.299091842	0.000200271	Integral membrane protein	BrainSpLMD|387914	OMIM|617324
RG-early	SYNE2	0.638436736	0.000203916	Cytoskeletal protein	BrainSpLMD|23224;Eurexp|euxassay_010927|cochlea, metanephros, pericardial cavity, peritoneal cavity, renal/urinary system, utricle, ventricular layer	OMIM|608442;HPO|23224|Arrhythmia, Autosomal dominant inheritance, Cardiomyopathy, Childhood onset, Elevated serum creatine phosphokinase, Muscular dystrophy, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Respiratory insufficiency
RG-early	SNRPD1	1.008219453	0.000230696	RNA binding protein	BrainSpLMD|6632	OMIM|601063
RG-early	DLGAP5	0.660452754	0.000234445	Cell cycle control protein	BrainSpLMD|9787	
RG-early	RPL13	0.57051991	0.000237281	Ribonucleoprotein	BrainSpLMD|6137	OMIM|113703
RG-early	BICC1	0.515953915	0.000247106	RNA binding protein	BrainSpLMD|80114	OMIM|614295
RG-early	RPS28	0.726713648	0.000247525	Ribosomal subunit		OMIM|603685;HPO|6234|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Broad neck, Cleft palate, Congenital diaphragmatic hernia, Delayed puberty, Downslanted palpebral fissures, Epicanthus, Fatigue, Feeding difficulties, Global developmental delay, Infantile onset, Macrocytic anemia, Micrognathia, Microtia, Midface retrusion, Migraine, Mixed hearing impairment, Pallor, Posteriorly rotated ears, Respiratory distress, Short stature, Sparse and thin eyebrow
RG-early	RP11.543P15.1	0.788454905	0.00024951			
RG-early	ZWINT	0.845438413	0.000259534	Cell cycle control protein	BrainSpLMD|11130;Eurexp|euxassay_009942|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, valve, vestibulocochlear VIII	OMIM|609177
RG-early	EMX2	0.544505776	0.000262408	Transcription factor	BrainSpLMD|2018;Eurexp|euxassay_019479|eyelid, lip, mantle layer, metanephros, olfactory, paramesonephric duct, phalanx, saccule, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|13575	OMIM|600035;HPO|2018|Schizencephaly
RG-early	SNHG1	1.501714337	0.000263272			OMIM|603222
RG-early	TPX2	1.132341657	0.000263288	Cell cycle control protein	BrainSpLMD|22974	OMIM|605917
RG-early	TRIAP1	1.785796215	0.000270107	Protease inhibitor	BrainSpLMD|51499	OMIM|614943
RG-early	DPY30	1.464704406	0.000280693	Unclassified	BrainSpLMD|84661;Eurexp|euxassay_011324|cortex, incisor, left lung, liver, midgut, molar, olfactory, pancreas, right lung, stomach, submandibular gland primordium, thymus primordium, thyroid, vomeronasal organ	OMIM|612032
RG-early	NR2E1	1.627008573	0.000289836	Nuclear receptor	BrainSpLMD|7101;Eurexp|euxassay_007190|epidermis, olfactory, retina, ventricular layer;BrainSpMouseDev|21664	OMIM|603849
RG-early	PPIA	0.57217854	0.000290992	Enzyme: Isomerase	BrainSpLMD|5478	OMIM|123840
RG-early	SRPRB	1.217760236	0.000299586	GTPase	BrainSpLMD|58477;Eurexp|euxassay_010365|basioccipital bone, clavicle, femur, humerus, mandible, maxilla, naris, orbito-sphenoid, rib, sternum, tibia, turbinate bones	OMIM|616883
RG-early	TYMS	1.884908791	0.000305673	Enzyme: Ligase	BrainSpLMD|7298;Eurexp|euxassay_008886|cardiovascular system, cavities and their linings, gland, integumental system, limb, marginal layer, mesenchyme, sensory organ, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|188350
RG-early	IGF2BP1	0.851232475	0.000321425	RNA binding protein	BrainSpLMD|10642;Eurexp|euxassay_000116|capsule, cortex, lens, mesenchyme, metanephros, physiological umbilical hernia, retina	OMIM|608288
RG-early	CENPF	0.947188381	0.000336809	Cell cycle control protein	BrainSpLMD|1063	OMIM|600236
RG-early	RPL12P4	0.439509598	0.000337515			
RG-early	IFT74	1.36057083	0.0003379	Unclassified	BrainSpLMD|80173;Eurexp|euxassay_011501|olfactory	OMIM|608040;HPO|80173|Autosomal recessive inheritance, Hypogonadism, Intellectual disability, Microcephaly, Obesity, Polydactyly, Rod-cone dystrophy
RG-early	SPC24	1.616696621	0.000344923	Cell cycle control protein	BrainSpLMD|147841;Eurexp|euxassay_006353|ventricular layer	OMIM|609394
RG-early	TMEM97	1.627169999	0.000346427	Unclassified	BrainSpLMD|27346;Eurexp|euxassay_006766|axial skeleton, clavicle, cranium, digit 1, digit 2, digit 3, digit 4, digit 5, femur, fibula, handplate, humerus, incisor, liver, mandible, maxilla, naris, pancreas, petrous part, radius, rib, scapula, submandibular gland primordium, tibia, turbinate bones, ulna, vibrissa	OMIM|612912
RG-early	RPSAP54	0.644201734	0.000349325			
RG-early	ERRFI1	1.066468197	0.000358108	Cytoskeletal protein	BrainSpLMD|54206	OMIM|608069
RG-early	CEP135	0.45799496	0.000366606	Unclassified	BrainSpLMD|9662	SFARI||Autism, 3 - Suggestive evidence;OMIM|611423;HPO|9662|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Congenital onset, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, severe, Microcephaly, Pachygyria, Retrognathia, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
RG-early	KDM3A	0.981839613	0.000370101	Unclassified	BrainSpLMD|55818	OMIM|611512
RG-early	DNAJA4	1.114365204	0.000371316	Unclassified	BrainSpLMD|55466;Eurexp|euxassay_012762|choroid invagination, choroid plexus, liver, roof plate	
RG-early	CNTLN	1.322315923	0.000372084	Unclassified	BrainSpLMD|54875	OMIM|611870
RG-early	TLK1	0.721274202	0.000379788	Serine/threonine kinase	BrainSpLMD|9874	OMIM|608438
RG-early	SPC25	1.388624972	0.000391123	Cell cycle control protein	BrainSpLMD|57405;Eurexp|euxassay_000451|mantle layer, medulla oblongata, ventral grey horn, ventricular layer	OMIM|609395
RG-early	SALL1	0.625308897	0.000392575	Transcription factor	BrainSpLMD|6299;Eurexp|euxassay_000198|basal columns, corpus striatum, epithelium, floor plate, floorplate, glomeruli, handplate, head mesenchyme, intermediate grey horn, isthmus, lateral wall, mantle layer, marginal layer, medulla oblongata, mesenchyme, olfactory, pars tuberalis, penis, skin, telencephalon, thyroid, ventral grey horn, ventricular layer;BrainSpMouseDev|37230	OMIM|602218;HPO|6299|2-3 toe syndactyly, 3-4 finger syndactyly, 3-4 toe syndactyly, Anal atresia, Anal stenosis, Anteriorly placed anus, Aplasia/Hypoplasia of the 3rd toe, Autosomal dominant inheritance, Bifid scrotum, Bifid uterus, Broad thumb, Chorioretinal coloboma, Clinodactyly of the 5th finger, Constipation, Cryptorchidism, Duodenal atresia, External ear malformation, Gastroesophageal reflux, Hearing impairment, Hypospadias, Hypothyroidism, Intellectual disability, Macrotia, Metatarsal synostosis, Microcephaly, Microtia, Overfolded helix, Overfolding of the superior helices, Partial duplication of thumb phalanx, Pes planus, Preauricular skin tag, Preaxial hand polydactyly, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Rectovaginal fistula, Renal insufficiency, Satyr ear, Short metatarsal, Stahl ear, Subcutaneous nodule, Tetralogy of Fallot, Toe clinodactyly, Triphalangeal thumb, Umbilical hernia, Urethral valve, Ventricular septal defect
RG-early	RPL12	0.790030442	0.000431165	Ribosomal subunit		OMIM|180475
RG-early	GSTP1	0.984021105	0.00043312	Enzyme: Glutathione transferase	BrainSpLMD|2950;Eurexp|euxassay_006221|lobe	OMIM|134660
RG-early	CCDC181	1.614508743	0.000438571	Unclassified	BrainSpLMD|57821;Eurexp|euxassay_004163|3rd ventricle, 4th ventricle, choroid invagination	
RG-early	CASP3	1.763435244	0.000472943	Cysteine protease	BrainSpLMD|836;Eurexp|euxassay_018739|mantle layer, olfactory, vomeronasal organ;BrainSpMouseDev|12152	OMIM|600636
RG-early	PER2	0.947801824	0.000481414	DNA binding protein	BrainSpLMD|8864;Eurexp|euxassay_019474|adrenal gland, larynx, lung, metanephros, olfactory, pancreas, rectum, stomach, testis, thyroid, trachea, urethra, ventricular layer;BrainSpMouseDev|18393	SFARI||Autism, 3 - Suggestive evidence;OMIM|603426;HPO|8864|Autosomal dominant inheritance, Depressivity, Sleep-wake cycle disturbance
RG-early	RP11.734J24.1	0.400713017	0.000488317			
RG-early	PCNA	1.511554715	0.000493326	Cell cycle control protein	BrainSpLMD|5111;Eurexp|euxassay_005732|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, spinal cord, ventricular layer	OMIM|176740;HPO|5111|Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Conjunctival telangiectasia, Cutaneous photosensitivity, Dysarthria, Dysphagia, Global developmental delay, Muscle weakness, Neurodegeneration, Pes cavus, Photophobia, Progressive, Progressive muscle weakness, Short stature, Unsteady gait
RG-early	REST	0.805000492	0.000494374	Transcription regulatory protein	BrainSpLMD|5978;BrainSpMouseDev|19475	OMIM|600571;HPO|5978|Abdominal pain, Gingival fibromatosis, Gingival overgrowth, Nephroblastoma
RG-early	SLC25A3	1.384807535	0.000495786	Transport/cargo protein	BrainSpLMD|5250	OMIM|600370;HPO|5250|Abnormal mitochondrial shape, Abnormality of the mitochondrion, Autosomal recessive inheritance, Cyanosis, Failure to thrive, Hypertrophic cardiomyopathy, Increased serum lactate, Lactic acidosis, Low-output congestive heart failure, Metabolic acidosis, Muscular hypotonia, Myopathy, Respiratory insufficiency
RG-early	RPL30	0.588753691	0.000504134	Ribosomal subunit	BrainSpLMD|6156	OMIM|180467
RG-early	RP11.490K7.4	1.500664545	0.000515286			
RG-early	RPL21	0.501073717	0.000525104	Ribosomal subunit		OMIM|603636;HPO|6144|Alopecia, Aplasia/Hypoplasia of the eyebrow, Autosomal dominant inheritance, Hypotrichosis, Hypotrichosis of the scalp, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Sparse or absent eyelashes
RG-early	COPS8	0.90644353	0.00052599	Regulatory/other subunit	BrainSpLMD|10920	OMIM|616011
RG-early	TNFRSF19	1.654276146	0.000536216	Cell surface receptor	BrainSpLMD|55504;Eurexp|euxassay_000124|associated mesenchyme, cartilage condensation, cerebral cortex, epithelium, facial bones primordia, frontal bone primordium, heart, incisor, lung, main bronchus, mandible, maxilla, mesenchyme, optic foramen, palatal shelf, perioptic mesenchyme, premaxilla, primary palate, skeletal muscle, skeleton, spleen primordium, submandibular gland primordium, vibrissa	OMIM|606122
RG-early	IGF2BP2	0.986495467	0.000542003	RNA binding protein	BrainSpLMD|10644	OMIM|608289
RG-early	PON2	0.716317587	0.000546233	Enzyme: Esterase	BrainSpLMD|5445	OMIM|602447;HPO|5445|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
RG-early	WDR36	1.199344911	0.000552397	Unclassified	BrainSpLMD|134430;Eurexp|euxassay_011586|left lung, liver, metanephros, midgut, pancreas, primitive seminiferous tubules, right lung, submandibular gland primordium	OMIM|609669;HPO|134430|Open angle glaucoma
RG-early	RPL18AP3	0.572035741	0.000555974			
RG-early	BNIP3	1.525224308	0.000572337	Unclassified	BrainSpLMD|664;Eurexp|euxassay_004164|axial skeleton, clavicle, epithelium, mesenchyme, midgut, olfactory, stomach, ventricle	OMIM|603293
RG-early	FXR1	0.64789199	0.000579341	RNA binding protein	BrainSpLMD|8087	OMIM|600819
RG-early	WDR43	1.085200951	0.000583398	Unclassified	Eurexp|euxassay_006414|axial muscle, clavicle, cortex, incisor, midgut, molar, submandibular gland primordium, thymus primordium, vibrissa	OMIM|616195
RG-early	TAF8	1.210050311	0.00058348	Transcription factor	BrainSpLMD|129685	OMIM|609514
RG-early	AHI1	1.227425316	0.000592802	Adapter molecule	BrainSpLMD|54806;Eurexp|euxassay_005590|brain, cervical, cervico-thoracic, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V;BrainSpMouseDev|32386	SFARI||Autism, No category;OMIM|608894;HPO|54806|Abnormal electroretinogram, Anteverted nares, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Central apnea, Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Enlarged fossa interpeduncularis, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Heterogeneous, Highly arched eyebrow, Intellectual disability, Long face, Low-set ears, Molar tooth sign on MRI, Motor delay, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nystagmus, Oculomotor apraxia, Open mouth, Pigmentary retinopathy, Ptosis, Retinal dystrophy, Stage 5 chronic kidney disease, Visual impairment, Wide nasal bridge
RG-early	VEGFA	2.125834141	0.000593649	Growth factor	BrainSpLMD|7422;BrainSpMouseDev|22096	OMIM|192240
RG-early	FAM60A	1.049844869	0.000597786			
RG-early	TPM1	0.270278014	0.000607516	Cytoskeletal associated protein	BrainSpLMD|7168;Eurexp|euxassay_009503|atrium, axial skeleton, bladder, choroid plexus, diaphragm, extrinsic ocular muscle, hindgut, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, liver, lung, mantle layer, mesenchyme, metanephros, midgut, nasal septum, skeletal muscle, skin, stomach, ventral grey horn, ventricle, vertebral axis muscle system, vibrissa	OMIM|191010;HPO|7168|Autosomal dominant inheritance, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular tachycardia
RG-early	MIS18BP1	0.789711623	0.000618668	Transcription regulatory protein	BrainSpLMD|55320;Eurexp|euxassay_004198|ventricular layer	
RG-early	FDFT1	0.405099575	0.000625227	Enzyme: Synthase	BrainSpLMD|2222;Eurexp|euxassay_005703|calyces, cerebral cortex, cervical, cervico-thoracic, cochlear component, dorsal root ganglion, epithelium, facial VII, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, inferior, inner ear, lens, loop, mantle layer, mesenteric artery, midgut, molar, nucleus pulposus, retina, skeleton, stomach, superior, tegmentum, thoracic, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|184420
RG-early	PEA15	0.657997749	0.000637768	Transport/cargo protein	BrainSpLMD|8682;Eurexp|euxassay_011580|neural retina, ventral grey horn, ventricular layer	OMIM|603434
RG-early	CDC42EP4	0.903636441	0.000645112	Cytoskeletal protein	BrainSpLMD|23580;Eurexp|euxassay_003531|left lung, right lung, ventricular layer, vibrissa	OMIM|605468
RG-early	TIMELESS	0.987716432	0.000655757	Transcription regulatory protein	BrainSpLMD|8914	OMIM|603887
RG-early	RPL13AP25	0.428429512	0.000659353			
RG-early	CENPN	1.544148554	0.000665662	Unclassified	BrainSpLMD|55839	OMIM|611509
RG-early	CCT4	0.970128095	0.000681322	Chaperone	BrainSpLMD|10575	SFARI||Autism, 3 - Suggestive evidence;OMIM|605142
RG-early	ZNF217	1.970236025	0.000688076	Transcription factor	BrainSpLMD|7764	OMIM|602967
RG-early	YWHAE	0.451259932	0.000688659	Adapter molecule	BrainSpLMD|7531;Eurexp|euxassay_018722|embryo	SFARI||Autism, 4 - Minimal evidence;OMIM|605066;COSMIC||endometrial stromal sarcoma, Miller-Dieker lissencephaly syndrome;HPO|7531|Abnormality of the cardiovascular system, Abnormality of upper lip, Anteverted nares, Cerebral cortical atrophy, Downslanted palpebral fissures, EEG abnormality, Epicanthus, Frontal bossing, Global developmental delay, Growth delay, High forehead, Hypertelorism, Lissencephaly, Low-set ears, Muscular hypotonia, Narrow mouth, Polyhydramnios, Seizures, Short neck, Short nose, Wide nose
RG-early	NACA	0.870204731	0.000692705	Chaperone	BrainSpLMD|4666	OMIM|601234;COSMIC||NHL
RG-early	TAF9	1.713278549	0.000702139	Transcription regulatory protein	BrainSpLMD|6880;Eurexp|euxassay_002090|thymus primordium;BrainSpMouseDev|72303	OMIM|600822
RG-early	PTBP1	0.899925395	0.000706104	Ribonucleoprotein	BrainSpLMD|5725	OMIM|600693
RG-early	ATP5I	1.077768735	0.000725779			
RG-early	SPCS1	1.270156807	0.000758617	Unclassified	BrainSpLMD|28972;Eurexp|euxassay_008166|mandible, maxilla	OMIM|610358
RG-early	GPN1	0.712169474	0.000768144	GTPase	BrainSpLMD|11321;Eurexp|euxassay_003421|sublingual gland primordium, submandibular gland primordium	OMIM|611479
RG-early	RPL24	0.495291356	0.000770551	Ribosomal subunit		OMIM|604180
RG-early	ZNF433	1.350885982	0.000774901	DNA binding protein	BrainSpLMD|163059	
RG-early	PKM	0.287698611	0.000775064	Enzyme: Phosphotransferase	BrainSpLMD|5315	OMIM|179050
RG-early	NCAPG	1.680308902	0.000779468	DNA binding protein	BrainSpLMD|64151;Eurexp|euxassay_013748|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|606280
RG-early	KIF20B	1.207318119	0.000786133	Cell cycle control protein	BrainSpLMD|9585	OMIM|605498
RG-early	EAF1	0.588587264	0.000794435	Transcription regulatory protein	BrainSpLMD|85403;Eurexp|euxassay_017241|olfactory	OMIM|608315
RG-early	PPP1R15A	0.550631738	0.000821456	Cell cycle control protein	BrainSpLMD|23645	OMIM|611048
RG-early	RPL39P3	0.516865758	0.000830142			
RG-early	RAP2C	1.154665157	0.000830522	GTPase	BrainSpLMD|57826	
RG-early	DEDD	1.246091608	0.000839175	DNA binding protein	BrainSpLMD|9191	OMIM|606841
RG-early	PPP1R15B	1.247820245	0.000841706	Regulatory/other subunit	BrainSpLMD|84919	OMIM|613257;HPO|84919|Abnormal vertebral morphology, Autosomal recessive inheritance, Brisk reflexes, Delayed puberty, Dysarthria, Fine hair, Gait ataxia, Hearing impairment, High pitched voice, Intellectual disability, severe, Intrauterine growth retardation, Kinetic tremor, Kyphoscoliosis, Microcephaly, Oligodontia, Pectus excavatum, Phenotypic variability, Recurrent hypoglycemia, Seizures, Short stature, Small for gestational age, Sparse hair, Spasticity
RG-early	RSRC2	1.032855406	0.000852032	Unclassified	BrainSpLMD|65117	
RG-early	TMEM258	0.718897351	0.00087268	Integral membrane protein	BrainSpLMD|746	OMIM|617615
RG-early	HSPD1	0.755517724	0.000883772	Heat shock protein	BrainSpLMD|3329;BrainSpMouseDev|15285	OMIM|118190;HPO|3329|Apnea, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Choreoathetosis, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hyperreflexia, Impaired vibration sensation in the lower limbs, Intellectual disability, profound, Leukodystrophy, Lower limb muscle weakness, Lower limb spasticity, Neonatal onset, Nystagmus, Postnatal microcephaly, Progressive, Progressive spasticity, Seizures, Spastic gait, Spastic paraplegia, Strabismus, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
RG-early	SEPW1	0.280750358	0.000912965			
RG-early	SDK2	0.613794414	0.000935342	Adhesion molecule	BrainSpLMD|54549;Eurexp|euxassay_009454|clavicle, femur, mantle layer, tongue, ventral grey horn, ventricular layer	OMIM|607217
RG-early	CDON	1.241701177	0.000936085	Cell surface receptor	BrainSpLMD|50937;BrainSpMouseDev|37081	OMIM|608707;HPO|50937|Agenesis of corpus callosum, Autosomal dominant inheritance, Cleft lip, Cleft palate, Delayed puberty, Ectopic posterior pituitary, Failure to thrive, Global developmental delay, Holoprosencephaly, Hypoglycemia, Hypoplasia of penis, Hypotelorism, Hypothyroidism, Microcephaly, Polysplenia, Proptosis, Short stature, Sporadic, Synophrys, Thick eyebrow, Variable expressivity
RG-early	RPS17L	0.711260967	0.000941956			
RG-early	SNORA11	0.597713032	0.000959955			OMIM|300662
RG-early	DEK	0.416696609	0.000978149	DNA binding protein	BrainSpLMD|7913	OMIM|125264;COSMIC||AML
RG-early	RPL19	0.671394445	0.000983147	Ribosomal subunit	BrainSpLMD|6143	OMIM|180466
RG-early	ZFHX4	0.42350471	0.000992304	Transcription factor	BrainSpLMD|79776;Eurexp|euxassay_005820|epidermis, mantle layer, nasal septum, urethra;BrainSpMouseDev|56662	OMIM|606940;HPO|79776|Autosomal dominant inheritance, Congenital ptosis
RG-early	DHX40	1.28225849	0.000994808	ATPase	BrainSpLMD|79665	OMIM|607570
RG-early	CREB3L2	1.427004759	0.001026204	Transcription factor	BrainSpLMD|64764;BrainSpMouseDev|83997	OMIM|608834;COSMIC||fibromyxoid sarcoma
RG-early	RP11.864N7.2	0.656814292	0.001063579			
RG-early	RPL32	0.673960096	0.001078664	Ribosomal subunit		
RG-early	CCDC25	1.764630321	0.001081126	Unclassified	BrainSpLMD|55246	
RG-early	TPT1	0.701464105	0.001081129	Calcium binding protein	BrainSpLMD|7178	OMIM|600763
RG-early	RPL37	0.254659558	0.001093496	Ribosomal subunit		OMIM|604181
RG-early	RPL13A	0.438259069	0.001100175	Ribosomal subunit		
RG-early	IMMP1L	1.304024337	0.001138859	Protease	BrainSpLMD|196294	OMIM|612323
RG-early	FOXN2	0.268477291	0.001148146	DNA binding protein	BrainSpLMD|3344;Eurexp|euxassay_019499|incisor, liver, lung, mandible, mantle layer, marginal layer, maxilla, molar, submandibular gland primordium, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|14013	OMIM|143089
RG-early	ARHGEF10	0.872907006	0.001178673	Guanine nucleotide exchange factor	BrainSpLMD|9639	OMIM|608136;HPO|9639|Adult onset, Autosomal dominant inheritance, Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination
RG-early	RP11.349N19.2	0.252474665	0.001202391			
RG-early	ZNF134	0.900474536	0.001202521	Transcription regulatory protein	BrainSpLMD|7693	OMIM|604076
RG-early	TCF3	0.438330006	0.001219592	Transcription factor	BrainSpLMD|6929;BrainSpMouseDev|21184	OMIM|147141;COSMIC||pre B-ALL;HPO|6929|Agammaglobulinemia, Arthritis, Autosomal dominant inheritance, B lymphocytopenia, Chronic otitis media, Conjunctivitis, Cough, Diarrhea, Failure to thrive, Fatigue, Fever, Immunodeficiency, Infantile onset, Osteomyelitis, Recurrent respiratory infections, Recurrent skin infections, Sinusitis, Skin rash
RG-early	CCNA2	1.267577627	0.001266128	Cell cycle control protein	BrainSpLMD|890	OMIM|123835
RG-early	SLC3A2	1.10942999	0.001288149	Membrane transport protein	BrainSpLMD|6520;Eurexp|euxassay_007752|incisor, liver, mantle layer, meninges, midgut, molar, submandibular gland primordium, thymus primordium, vibrissa	OMIM|158070
RG-early	BRCA1	0.468401605	0.001306384	Transcription regulatory protein	BrainSpLMD|672;Eurexp|euxassay_019531|incisor, liver, lung, marginal layer, metanephros, molar, olfactory, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|11975	OMIM|113705;COSMIC||ovarian, breast, ovarian;HPO|672|Abdominal distention, Abdominal pain, Abnormality of the fallopian tube, Autosomal dominant inheritance, Breast carcinoma, Constipation, Heterogeneous, Nausea and vomiting, Neoplasm, Ovarian neoplasm, Peritonitis, Primary peritoneal carcinoma
RG-early	PPA1	0.854143508	0.001309811	Enzyme: Phosphohydrolase	BrainSpLMD|5464;Eurexp|euxassay_004470|bladder, cranium, forelimb, hindlimb, incisor, lung, mandible, maxilla, mesenchyme, metanephros, midgut, nasal septum, olfactory, orbito-sphenoid, palatal shelf, pancreas, respiratory, submandibular gland primordium, tail, turbinate bones, vibrissa	OMIM|179030
RG-early	BUB1B	0.72373317	0.001325694	Serine/threonine kinase	BrainSpLMD|701;Eurexp|euxassay_018755|cortex, ear, hindgut, incisor, lobe, lung, mandible, marginal layer, maxilla, midgut, molar, neural retina, oesophagus, olfactory, orbito-sphenoid, pancreas, rectum, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, trachea, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ, wall	OMIM|602860;COSMIC||rhabdomyosarcoma;HPO|701|Abnormality of vision, Agenesis of corpus callosum, Ambiguous genitalia, Anteverted nares, Ascites, Autosomal recessive inheritance, Bifid scrotum, Brachycephaly, Cataract, Cerebellar hypoplasia, Cerebral hypoplasia, Cleft palate, Combined immunodeficiency, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Epicanthus, Feeding difficulties in infancy, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Glaucoma, Global developmental delay, Hereditary nonpolyposis colorectal carcinoma, High forehead, Hydrocephalus, Hypertelorism, Hypodysplasia of the corpus callosum, Hypospadias, Increased nuchal translucency, Intellectual disability, Intellectual disability, profound, Intrauterine growth retardation, Leukemia, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Muscular dystrophy, Neoplasm of the stomach, Nephroblastoma, Nystagmus, Oligohydramnios, Phenotypic variability, Polyhydramnios, Posteriorly rotated ears, Postnatal growth retardation, Premature chromatid separation, Renal cell carcinoma, Renal cyst, Rhabdomyosarcoma, Severe global developmental delay, Short neck, Short nose, Short stature, Short sternum, Small for gestational age, Transitional cell carcinoma of the bladder, Triangular face, Triangular mouth, Upslanted palpebral fissure, Uterine leiomyosarcoma, Ventriculomegaly, Wide nose
RG-early	SNRPB	1.197593184	0.001343881	RNA binding protein	BrainSpLMD|6628	OMIM|182282;HPO|6628|11 pairs of ribs, Abnormality of the dentition, Anomalous rib insertion to vertebrae, Anomalous tracheal cartilage, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Calcaneal epiphyseal stippling, Cleft palate, Cleft soft palate, Clinodactyly of the 5th finger, Conductive hearing impairment, Congenital hip dislocation, Death in infancy, Ectopic kidney, Elbow flexion contracture, Epicanthus, Feeding difficulties, Gastroesophageal reflux, Glossoptosis, High palate, Horseshoe kidney, Intellectual disability, Intrauterine growth retardation, Kyphosis, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Nasal speech, Neonatal respiratory distress, Patent ductus arteriosus, Polyhydramnios, Porencephalic cyst, Posterior rib gap, Posteriorly rotated ears, Postnatal growth retardation, Renal cyst, Scoliosis, Short hard palate, Short humerus, Short stature, Thoracic hypoplasia, Tracheomalacia, Ventricular septal defect, Webbed neck
RG-early	RPL9P7	0.724923412	0.001368474			
RG-early	EEF1A1	0.445385881	0.001374696	Transcription regulatory protein	BrainSpLMD|1915	OMIM|130590
RG-early	CCNB1	1.212163209	0.001379297	Cell cycle control protein	BrainSpLMD|891	OMIM|123836
RG-early	H1F0	0.895194593	0.001390582	DNA binding protein	BrainSpLMD|3005;Eurexp|euxassay_006503|embryo	OMIM|142708
RG-early	ITGB3BP	1.038413042	0.001415581	Transcription regulatory protein	BrainSpLMD|23421	OMIM|605494
RG-early	BET1	1.074919223	0.001418582	Integral membrane protein	BrainSpLMD|10282	OMIM|605456
RG-early	CEP152	0.872302796	0.001448031	Unclassified	Eurexp|euxassay_011313|axial skeleton, basioccipital bone, choroid invagination, choroid plexus, epithelium, femur, humerus, inner ear, olfactory, pelvic girdle, pituitary, roof plate, scapula, vomeronasal organ	OMIM|613529;HPO|22995|Abnormal cortical bone morphology, Abnormal cortical gyration, Abnormality of dental enamel, Absent earlobe, Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Bimanual synkinesia, Cachexia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Heterotopia, High palate, Hip dysplasia, Hyperreflexia, Hypodontia, Hypoplasia of the frontal lobes, Impulsivity, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint hyperflexibility, Large beaked nose, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Oligodontia, Pachygyria, Prematurely aged appearance, Prominent nasal bridge, Reduced number of teeth, Retrognathia, Sandal gap, Short stature, Sloping forehead, Sparse scalp hair, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
RG-early	SRP14	0.831066727	0.001466328	RNA binding protein	BrainSpLMD|6727;Eurexp|euxassay_001753|dorsal root ganglion, glossopharyngeal IX, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|600708
RG-early	CTC.359D24.3	0.899298857	0.001489797			
RG-early	ATF4	0.734942505	0.001490275	Transcription factor	BrainSpLMD|468;BrainSpMouseDev|11698	OMIM|604064
RG-early	RP11.466H18.1	0.690254785	0.00149238			
RG-early	UBBP4	0.300714256	0.001514008			
RG-early	H3F3AP4	0.793522204	0.001550692			
RG-early	PIK3R3	0.261303079	0.001564091	Adapter molecule	BrainSpLMD|8503	OMIM|606076
RG-early	RN7SL2	1.287716239	0.001577411			OMIM|612179
RG-early	RPLP0	0.902745512	0.001620776	Ribosomal subunit	BrainSpLMD|6175	OMIM|180510
RG-early	PIN4	1.242710833	0.001626884	Enzyme: Isomerase	BrainSpLMD|5303	OMIM|300252
RG-early	CBFB	1.25524034	0.001640672	Transcription factor	BrainSpLMD|865	OMIM|121360;COSMIC||AML
RG-early	RPL21P75	0.547539268	0.001652248			
RG-early	PSMD14	0.671240727	0.001709858	Ubiquitin proteasome system protein	BrainSpLMD|10213	OMIM|607173
RG-early	ATAD2	1.026932071	0.001722697	ATPase	BrainSpLMD|29028;Eurexp|euxassay_012771|ventricular layer	OMIM|611941
RG-early	RP11.51O6.1	0.632480907	0.001726906			
RG-early	SVIP	1.248867186	0.00174434			
RG-early	MCM3	0.731632708	0.001770078	DNA binding protein	BrainSpLMD|4172;Eurexp|euxassay_001694|marginal layer, ventricular layer	OMIM|602693
RG-early	EIF3J	0.816085601	0.001794845	Translation regulatory protein	BrainSpLMD|8669	OMIM|603910
RG-early	ZFAND2A	1.20966018	0.00182488	RNA binding protein	BrainSpLMD|90637	OMIM|610699
RG-early	PGAM1	1.304046227	0.001859419	Enzyme: Mutase		OMIM|172250
RG-early	RP11.395L14.17	1.12667665	0.001879583			
RG-early	AFMID	2.131609814	0.001889117	Unclassified		
RG-early	ADNP	0.96567046	0.001909453	Transcription factor	BrainSpLMD|23394;BrainSpMouseDev|11325	SFARI||Autism, 1 - High confidence;OMIM|611386;HPO|23394|Autistic behavior, Autosomal dominant inheritance, Cleft eyelid, Downslanted palpebral fissures, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hyperactivity, Hypermetropia, Infantile onset, Intellectual disability, Joint laxity, Language impairment, Obesity, Obsessive-compulsive behavior, Prominent forehead, Ptosis, Recurrent infections, Short nose, Short stature, Small hand, Smooth philtrum, Stereotypy, Strabismus, Thin upper lip vermilion, Visual impairment, Wide nasal bridge
RG-early	GPBP1L1	1.337199445	0.001915774	Unclassified	BrainSpLMD|60313	
RG-early	RPS12	0.76849244	0.001939661	Ribosomal subunit	BrainSpMouseDev|19805	OMIM|603660
RG-early	YAP1	0.729748039	0.001989721	Transcription regulatory protein	BrainSpLMD|10413	OMIM|606608;HPO|10413|Autosomal dominant inheritance, Bilateral cleft lip and palate, Chorioretinal coloboma, Hematuria, Intellectual disability, Iris coloboma, Microphthalmia, Sensorineural hearing impairment
RG-early	RPL15	0.679878632	0.002027406	Ribosomal subunit	BrainSpLMD|6138	OMIM|604174;HPO|6138|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Elevated red cell adenosine deaminase activity, Fatigue, Macrocytic anemia, Migraine, Normochromic anemia, Pallor, Reticulocytopenia, Triphalangeal thumb, Ventricular septal defect
RG-early	RBM8B	0.5652126	0.002084077			
RG-early	ARHGAP11A	0.281333148	0.002110606	GTPase activating protein	BrainSpLMD|9824;Eurexp|euxassay_018145|excretory component, hindgut, incisor, mantle layer, marginal layer, meninges, midgut, molar, neural retina, olfactory, stomach, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|610589
RG-early	GMNN	1.79637688	0.002180803	Cell cycle control protein	BrainSpLMD|51053;Eurexp|euxassay_013652|cortex, incisor, lobe, lung, molar, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|602842;HPO|51053|Abnormality of epiphysis morphology, Abnormality of the ribs, Anotia, Aplastic clavicles, Atresia of the external auditory canal, Autosomal dominant inheritance, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Conductive hearing impairment, Craniosynostosis, Cryptorchidism, Delayed puberty, Delayed skeletal maturation, Depressed nasal ridge, Failure to thrive, Feeding difficulties, Growth hormone deficiency, High, narrow palate, Hip dysplasia, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Microtia, third degree, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Recurrent respiratory infections, Respiratory distress, Respiratory failure, Retrognathia, Severe short stature, Short middle phalanx of finger, Slender long bone, Stenosis of the external auditory canal, Umbilical hernia
RG-early	HDAC9	0.730976674	0.002205766	Transcription regulatory protein	BrainSpLMD|9734	OMIM|606543
RG-early	EEF1A1P6	0.391296021	0.002225014			
RG-early	SLITRK5	0.500944062	0.002278752	Integral membrane protein	BrainSpLMD|26050	SFARI||Autism, No category;OMIM|609680
RG-early	IER5	0.626034731	0.002300256	Transcription regulatory protein	BrainSpLMD|51278	OMIM|607177
RG-early	ENO1	1.209897242	0.002360317	Enzyme: Hydratase	BrainSpLMD|2023	OMIM|172430
RG-early	WBP4	1.547257474	0.002451462	RNA binding protein	BrainSpLMD|11193	OMIM|604981
RG-early	MDM1	1.677163484	0.002489825	Unclassified	BrainSpLMD|56890	OMIM|613813
RG-early	MRPL47	1.032669043	0.002504879	Ribosomal subunit	BrainSpLMD|57129	OMIM|611852
RG-early	PBDC1	0.783944711	0.002506231	Unclassified	BrainSpLMD|51260	
RG-early	MIER1	0.606709825	0.002510949	Transcription regulatory protein	BrainSpLMD|57708	OMIM|616848
RG-early	15-Sep	0.879514319	0.002512271			
RG-early	NPIPB11	0.374263371	0.002665883			
RG-early	EZH2	0.867513407	0.002681496	Transcription regulatory protein	BrainSpLMD|2146	OMIM|601573;COSMIC||DLBCL;HPO|2146|Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Absent septum pellucidum, Accelerated skeletal maturation, Autosomal dominant inheritance, Behavioral abnormality, Broad foot, Broad forehead, Broad thumb, Calcaneovalgus deformity, Camptodactyly, Camptodactyly of finger, Clinodactyly, Coxa valga, Cryptorchidism, Cutis laxa, Deep philtrum, Deep-set nails, Delayed speech and language development, Depressed nasal bridge, Diastasis recti, Dilation of lateral ventricles, Dimple chin, Downslanted palpebral fissures, Dysarthria, Dysharmonic bone age, Epicanthus, Feeding difficulties in infancy, Fine hair, Flared femoral metaphysis, Flared humeral metaphysis, Generalized hypotonia, Global developmental delay, Hoarse voice, Hydrocele testis, Hypertelorism, Hypertonia, Hypoplastic iliac wing, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Inverted nipples, Joint contracture of the hand, Joint stiffness, Kyphosis, Large hands, Limited elbow extension, Limited knee extension, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Mandibular prognathia, Metatarsus adductus, Micrognathia, Overlapping toe, Pes cavus, Prominent fingertip pads, Radial deviation of finger, Redundant skin, Retrognathia, Round face, Scoliosis, Seizures, Short fourth metatarsal, Short ribs, Slurred speech, Sparse hair, Spasticity, Strabismus, Talipes equinovarus, Tall stature, Thin nail, Umbilical hernia
RG-early	MTHFD2L	1.330553353	0.00271067	Enzyme: Dehydrogenase	BrainSpLMD|441024	OMIM|614047
RG-early	RYBP	0.317741378	0.002730885	Transcription regulatory protein	BrainSpLMD|23429;Eurexp|euxassay_019658|mantle layer, olfactory, vibrissa, vomeronasal organ;BrainSpMouseDev|35633	OMIM|607535
RG-early	ACAA2	1.371737487	0.002774841	Enzyme: Acyltransferase	BrainSpLMD|10449;Eurexp|euxassay_018546|bladder, choroid invagination, choroid plexus, epidermis, epithelium, liver, oral epithelium, roof plate, vibrissa	OMIM|604770
RG-early	RBM39	0.357837903	0.002780085	RNA binding protein;Transcription regulatory protein	BrainSpLMD|9584	OMIM|604739
RG-early	LINC00339	1.416733142	0.002871906		BrainSpLMD|29092	
RG-early	TRA2A	0.441487731	0.002872142	RNA binding protein	BrainSpLMD|29896	OMIM|602718
RG-early	RPL10A	0.981158553	0.002882365	Ribosomal subunit		OMIM|615660
RG-early	KIF4A	0.753794234	0.002882616	DNA binding protein	BrainSpLMD|24137;Eurexp|euxassay_017959|Meckel's cartilage, chondrocranium, incisor, nasal capsule	OMIM|300521;HPO|24137|Abnormal facial shape, Intellectual disability, Poor speech, Seizures, X-linked recessive inheritance
RG-early	MAD2L1	1.425732313	0.002951186	Cell cycle control protein	BrainSpLMD|4085	OMIM|601467
RG-early	TCP1	0.922109831	0.002955856	Chaperone	BrainSpLMD|6950	OMIM|186980
RG-early	HMGB3	0.271455486	0.002966895	DNA binding protein	BrainSpLMD|3149;BrainSpMouseDev|15129	OMIM|300193;HPO|3149|Abnormality of the pinna, Anteverted ears, Coloboma, Esotropia, Global developmental delay, Intellectual disability, Microcephaly, Microcornea, Microphthalmia, Pendular nystagmus, Ptosis, Short stature, X-linked inheritance
RG-early	RACGAP1	1.396562872	0.002977358	GTPase activating protein	BrainSpLMD|29127;Eurexp|euxassay_005572|dorsal grey horn, ventricular layer	OMIM|604980
RG-early	RP11.421N8.1	0.634129338	0.003033049			
RG-early	NDC80	1.522171484	0.003060191	Cell cycle control protein	BrainSpLMD|10403;Eurexp|euxassay_006923|embryo	OMIM|607272
RG-early	MED30	0.775961527	0.003078339	Transcription regulatory protein	BrainSpLMD|90390	OMIM|610237
RG-early	HSP90AB1	0.636009767	0.003091526	Chaperone	BrainSpLMD|3326	OMIM|140572;COSMIC||NHL
RG-early	NDUFB1	0.517819567	0.003117772	Enzyme: Oxidoreductase	BrainSpLMD|4707	OMIM|603837
RG-early	PROM1	0.988038285	0.003119834	Integral membrane protein	BrainSpLMD|8842;BrainSpMouseDev|18889	OMIM|604365;HPO|8842|Abnormal electroretinogram, Abnormality of color vision, Abnormality of macular pigmentation, Abnormality of retinal pigmentation, Abnormality of the choroid, Abnormality of the fovea, Abnormality of the retinal vasculature, Abnormality of the testis, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the macula, Atypical scarring of skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cataract, Central scotoma, Conductive hearing impairment, Cone/cone-rod dystrophy, Dyschromatopsia, Glaucoma, Granular macular appearance, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Macular degeneration, Macular dystrophy, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paroxysmal involuntary eye movements, Perifoveal ring of hyperautofluorescence, Peripheral visual field loss, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Retinal thinning, Rod-cone dystrophy, Sensorineural hearing impairment, Undetectable electroretinogram, Wide nasal bridge, Yellow/white lesions of the macula
RG-early	ZIC2	0.979668784	0.003130068	Transcription regulatory protein	BrainSpLMD|7546;BrainSpMouseDev|22529	OMIM|603073;HPO|7546|Abnormal facial shape, Autosomal dominant inheritance, Global developmental delay, Holoprosencephaly, Hydrocephalus, Intellectual disability, Microcephaly, Synophrys, Trigonocephaly
RG-early	RPL22L1	1.414807414	0.003151236	Unclassified		
RG-early	SREK1	0.952979544	0.003178118	RNA binding protein	BrainSpLMD|140890	OMIM|609268
RG-early	LSM4	1.139023893	0.003227049	RNA binding protein	BrainSpLMD|25804	OMIM|607284
RG-early	TMEM170A	0.852041257	0.00323601	Unclassified	BrainSpLMD|124491	
RG-early	EFNB1	0.816766003	0.003246741	Ligand	BrainSpLMD|1947;Eurexp|euxassay_018017|bladder, cortex, dorsal root ganglion, ductus deferens, incisor, internal capsule, lung, mesenchyme, metanephros, midgut, molar, palatal shelf, phalanx, stomach, sulcus limitans, ventricular layer, vibrissa;BrainSpMouseDev|13419	OMIM|300035;HPO|1947|Abnormality of the dentition, Abnormality of the rib cage, Axillary pterygia, Bifid nasal tip, Brachycephaly, Brachydactyly, Broad hallux, Broad hallux phalanx, Camptodactyly of finger, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Congenital pseudoarthrosis of the clavicle, Coronal craniosynostosis, Craniosynostosis, Cryptorchidism, Depressed nasal ridge, Down-sloping shoulders, Downslanted palpebral fissures, Exotropia, Facial asymmetry, Finger syndactyly, Fragile nails, Frontal bossing, Generalized hypotonia, Global developmental delay, Hand polydactyly, Hemihypotrophy of lower limb, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplastic nasal tip, Hypospadias, Intellectual disability, Joint hyperflexibility, Joint laxity, Low posterior hairline, Microcephaly, Midline defect of the nose, Muscular hypotonia, Nystagmus, Oral cleft, Pectus excavatum, Plagiocephaly, Ridged fingernail, Ridged nail, Sandal gap, Scoliosis, Sensorineural hearing impairment, Shawl scrotum, Short neck, Short stature, Split nail, Sprengel anomaly, Telecanthus, Thickened nuchal skin fold, Toe syndactyly, Umbilical hernia, Unilateral breast hypoplasia, Wide nasal bridge, Widow's peak, Woolly hair, X-linked dominant inheritance
RG-early	HINT1	0.812431643	0.003422683	ATPase	BrainSpLMD|3094	OMIM|601314;HPO|3094|Abnormality of the foot, Autosomal recessive inheritance, Distal sensory impairment, Elevated serum creatine phosphokinase, Fasciculations, Foot dorsiflexor weakness, Hyperhidrosis, Muscle cramps, Muscle stiffness, Myokymia, Myotonia, Progressive, Sensory axonal neuropathy, Skeletal muscle atrophy
RG-early	STON2	1.359053383	0.003426705	Unclassified	BrainSpLMD|85439	OMIM|608467
RG-early	RBL1	0.76836633	0.003426925	Cell cycle control protein	BrainSpLMD|5933	OMIM|116957
RG-early	UQCRFS1	1.56098786	0.00348158	Enzyme: Reductase	BrainSpLMD|7386	OMIM|191327
RG-early	POLR2L	1.912776485	0.003523461	RNA polymerase	BrainSpLMD|5441;Eurexp|euxassay_019574|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, liver, lung, midgut, nucleus pulposus, oesophagus, pancreas, stomach, submandibular gland primordium, testis, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|601189
RG-early	HAUS8	0.676749895	0.003574595	Unclassified	BrainSpLMD|93323	OMIM|613434
RG-early	MYL6	0.456032626	0.003629179	Cytoskeletal protein	BrainSpLMD|4637	OMIM|609931
RG-early	KCTD6	1.292898567	0.003633783	Ion channel	BrainSpLMD|200845;Eurexp|euxassay_003600|dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vibrissa	
RG-early	RAD51AP1	1.518418317	0.00367229	DNA binding protein	BrainSpLMD|10635;Eurexp|euxassay_010685|ventricular layer	OMIM|603070
RG-early	THUMPD1	0.828823005	0.00369589	Unclassified	BrainSpLMD|55623	OMIM|616662
RG-early	DDX39A	0.655302621	0.003735004	RNA helicase	BrainSpLMD|10212	
RG-early	SSB	0.852451199	0.003789087	RNA binding protein	BrainSpLMD|6741	OMIM|109090
RG-early	PSMB7	0.778543115	0.003827875	Ubiquitin proteasome system protein	BrainSpLMD|5695	OMIM|604030
RG-early	RPF2	1.020518633	0.003882081	Unclassified	BrainSpLMD|84154	
RG-early	ALDH1B1	0.403463791	0.003911937	Enzyme: Dehydrogenase	BrainSpLMD|219;Eurexp|euxassay_011652|midgut, pancreas	OMIM|100670
RG-early	RPS21	0.378111201	0.004105691	Ribosomal subunit	BrainSpLMD|6227	OMIM|180477
RG-early	RSL24D1	0.892368121	0.004151044	Unclassified	BrainSpLMD|51187	OMIM|613262
RG-early	RPL7A	0.934592949	0.004171963	Ribosomal subunit	Eurexp|euxassay_005917|embryo	OMIM|185640
RG-early	SLIRP	0.894522517	0.004200596	RNA binding protein	BrainSpLMD|81892	OMIM|610211
RG-early	PUF60	0.408216243	0.004203997	RNA binding protein	BrainSpLMD|22827	OMIM|604819;HPO|22827|Abnormality of the cardiac septa, Autosomal dominant inheritance, Cerebral atrophy, Clinodactyly, Coloboma, Congenital onset, Feeding difficulties, Global developmental delay, Hemivertebrae, Hip dislocation, Long philtrum, Microcephaly, Narrow forehead, Phenotypic variability, Renal agenesis, Renal cyst, Renal hypoplasia, Scoliosis, Short 5th finger, Short neck, Short nose, Short stature, Thin upper lip vermilion, Vertebral fusion, Wide nasal bridge
RG-early	AGO3	1.090112823	0.004257899	Translation regulatory protein	BrainSpLMD|192669	OMIM|607355
RG-early	PSIP1	0.257044597	0.004332163	Transcription regulatory protein	BrainSpLMD|11168;Eurexp|euxassay_008131|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, trigeminal V, vagus X, vibrissa, vomeronasal organ	OMIM|603620;COSMIC||AML
RG-early	SIVA1	0.647191487	0.004433846	Unclassified;Cell surface receptor	BrainSpLMD|10572	OMIM|605567
RG-early	INTS8	0.766368598	0.004465509	Unclassified	BrainSpLMD|55656	OMIM|611351
RG-early	GPX4	1.160805591	0.004503206	Enzyme: Peroxidase	BrainSpLMD|2879	OMIM|138322;HPO|2879|11 pairs of ribs, Abnormality of the ribs, Abnormality of the scapula, Arrhythmia, Atrial septal defect, Atrioventricular block, Autosomal recessive inheritance, Brachydactyly, Cardiorespiratory arrest, Cerebellar hypoplasia, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped metacarpal epiphyses, Cupped ribs, Delayed epiphyseal ossification, Delayed skeletal maturation, Depressed nasal bridge, Flared iliac wings, Flat acetabular roof, Focal lissencephaly, Generalized hypotonia, Iliac crest serration, Irregular tarsal bones, Large posterior fontanelle, Long fibula, Metaphyseal chondrodysplasia, Metaphyseal cupping, Metaphyseal irregularity, Muscular hypotonia, Narrow chest, Narrow greater sacrosciatic notches, Platyspondyly, Porencephalic cyst, Posteriorly rotated ears, Redundant skin, Rhizomelia, Rhizomelic arm shortening, Short finger, Short long bone, Short metacarpal, Short neck, Short palm, Short phalanx of finger, Short ribs, Short toe, Spondylometaphyseal dysplasia, Talipes equinovarus, Turricephaly, Widened sacrosciatic notch
RG-early	TUFT1	0.539694563	0.00459957	Extracellular matrix protein	BrainSpLMD|7286;Eurexp|euxassay_015745|incisor, laryngeal, molar, olfactory, oral epithelium, vibrissa	OMIM|600087
RG-early	KNSTRN	1.208187134	0.004653736	Unclassified		OMIM|614718;COSMIC||SCC
RG-early	PARD6B	0.824246683	0.004663026	Adapter molecule	BrainSpLMD|84612	OMIM|608975
RG-early	KIF23	1.235197695	0.004702418	Motor protein	BrainSpLMD|9493;Eurexp|euxassay_006188|incisor, lung, mantle layer, marginal layer, olfactory, submandibular gland primordium, thymus primordium, thyroid, ventricular layer	OMIM|605064;HPO|9493|Abnormal cellular phenotype, Abnormal proerythroblast morphology, Anemia, Anisocytosis, Fatigue, Hyperbilirubinemia, Increased mean corpuscular volume, Increased serum iron, Increased total iron binding capacity, Poikilocytosis
RG-early	NCAPG2	0.658454129	0.00474635	Unclassified	BrainSpLMD|54892;Eurexp|euxassay_002384|axial muscle, epithelium, lobe, olfactory, ventricular layer	OMIM|608532
RG-early	SNRPE	0.509348212	0.004752864	Ribonucleoprotein		OMIM|128260;HPO|6635|Absent axillary hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Autosomal dominant inheritance, Hypotrichosis, Hypotrichosis of the scalp, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Sparse or absent eyelashes
RG-early	ATP1B1	0.866906001	0.004806481	ATPase	BrainSpLMD|481;Eurexp|euxassay_014734|adenohypophysis, alar columns, atrium, autonomic, basal columns, basal plate, body, calyces, cardiac muscle, cerebellum, cerebral cortex, choroid plexus, collecting ducts, corpus striatum, cortex, cortical region, diencephalic part of interventricular foramen, dorsal root ganglion, duodenum, endocardial cushion tissue, endocardial tissue, epithalamus, epithelium, excretory component, extraembryonic component, facial VII, forebrain, fundus, ganglion, gastro-oesophageal junction, glossopharyngeal IX, head, heart, hindbrain, hindgut, hypogastric plexus, hypothalamus, infundibulum, interventricular groove, intraventricular portion, laryngeal, lateral wall, lower, lumen, lung, mantle layer, marginal layer, median eminence, medulla oblongata, medullary tubules, metanephros, midbrain, midgut, nasal septum, neurohypophysis, olfactory, pancreas, pars anterior, pars intermedia, pars nervosa, pars tuberalis, pericardium, physiological umbilical hernia, pituitary, pons, pyloric antrum, pyloric region, respiratory, respiratory system, respiratory tract, rest of alar plate, rostral part, stomach, sulcus limitans, sympathetic, tail, tegmentum, telencephalon, testis, thalamus, thoracic, trigeminal V, turbinate bones, upper, vagus X, ventricular layer, vestibulocochlear VIII, visceral organ	OMIM|182330
RG-early	DUT	0.806525337	0.004867874	Enzyme: Hydrolase	BrainSpLMD|1854	OMIM|601266
RG-early	USP39	1.431087485	0.004932147	Ubiquitin proteasome system protein	BrainSpLMD|10713	OMIM|611594
RG-early	FAM162A	1.739150771	0.004974923	Unclassified	BrainSpLMD|26355	OMIM|608017
RG-early	ATXN7	0.653934223	0.005012743	Unclassified	BrainSpLMD|6314;Eurexp|euxassay_007505|alimentary system, cardiovascular system, cavities and their linings, ganglion, gland, integumental system, limb, mantle layer, mesenchyme, nerve, peripheral nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system	SFARI||Autism, 5 - Hypothesized but untested;OMIM|607640;HPO|6314|Abnormality of extrapyramidal motor function, Autosomal dominant inheritance, Babinski sign, Chorea, Dysmetria, Dysphagia, Genetic anticipation with paternal anticipation bias, Macular degeneration, Olivopontocerebellar atrophy, Orofacial dyskinesia, Pigmentary retinal degeneration, Progressive visual loss, Slow saccadic eye movements, Spasticity, Supranuclear ophthalmoplegia
RG-early	RPL6	0.612916529	0.005023154	Ribosomal subunit	BrainSpLMD|6128	OMIM|603703
RG-early	THAP9.AS1	0.895243945	0.005043716			
RG-early	NOL7	1.230348615	0.005073302	Unclassified	BrainSpLMD|51406	OMIM|611533
RG-early	BOC	0.853982117	0.005102343	Cell surface receptor	BrainSpLMD|91653;Eurexp|euxassay_005272|intermediate grey horn, mantle layer, marginal layer, mesenchyme, trachea, ventricular layer;BrainSpMouseDev|78669	OMIM|608708
RG-early	SNRPG	0.741550344	0.005113014	Ribonucleoprotein	Eurexp|euxassay_001471|cervical, cervico-thoracic, cortex, thoracic, thymus primordium, ventricular layer	OMIM|603542
RG-early	TUBE1	0.521894218	0.00516521	Cytoskeletal protein	BrainSpLMD|51175;Eurexp|euxassay_012292|palatal shelf, ventricular layer	OMIM|607345
RG-early	PER1	0.615101387	0.005202829	Transcription regulatory protein	BrainSpLMD|5187;BrainSpMouseDev|18392	SFARI||Autism, 4 - Minimal evidence;OMIM|602260;COSMIC||AML, CMML
RG-early	RNPS1	0.897410469	0.005246297	RNA binding protein	BrainSpLMD|10921	SFARI||Autism, No category;OMIM|606447
RG-early	DNAJC1	1.147253513	0.005351389	Chaperone	BrainSpLMD|64215	OMIM|611207
RG-early	CKAP2L	0.655422869	0.00541459	Unclassified	BrainSpLMD|150468;Eurexp|euxassay_002011|thymus primordium, ventricular layer	OMIM|616174;HPO|150468|2-4 toe syndactyly, Aphasia, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Broad forehead, Cerebellar atrophy, Clinodactyly of the 5th finger, Cryptorchidism, Decreased body weight, Delayed skeletal maturation, Dysphasia, Dystonia, Echolalia, Finger syndactyly, Frontal bossing, Frontal hirsutism, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Low hanging columella, Microcephaly, Microdontia, Mutism, Optic atrophy, Postnatal growth retardation, Prominent forehead, Prominent nasal bridge, Proptosis, Seizures, Severe short stature, Short philtrum, Single transverse palmar crease, Specific learning disability, Thin vermilion border, Underdeveloped nasal alae, Ventricular septal defect, Visual impairment, Wide nasal bridge, Wide nose
RG-early	RPL18A	0.679006947	0.005465199	RNA binding protein		OMIM|604178
RG-early	EEF1A1P5	0.47117348	0.005466914			
RG-early	RHEBP2	1.13364983	0.005467022			
RG-early	CTNNAL1	1.368930541	0.005528778	Unclassified	BrainSpLMD|8727	OMIM|604785
RG-early	KIF22	1.0813271	0.005569564	DNA binding protein	BrainSpLMD|3835	OMIM|603213;HPO|3835|Abnormal calcification of the carpal bones, Abnormality of the patella, Abnormality of the sacrum, Anteverted nares, Autosomal dominant inheritance, Broad distal phalanx of finger, Carpal bone hypoplasia, Caudal interpedicular narrowing, Congenital hip dislocation, Delayed patellar ossification, Delayed phalangeal epiphyseal ossification, Depressed nasal bridge, Dislocated radial head, Enlarged thorax, Flared metaphysis, Flat capital femoral epiphysis, Frontal bossing, Generalized hypotonia, Genu valgum, Global developmental delay, Hip dislocation, Hypoplasia of the capital femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Joint laxity, Kyphosis, Large joint dislocations, Laryngeal stenosis, Laryngotracheomalacia, Long distal phalanx of finger, Long proximal phalanx of finger, Macrocephaly, Malar flattening, Metaphyseal irregularity, Micromelia, Midface retrusion, Nail dysplasia, Narrow femoral neck, Osteoarthritis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Short nose, Short stature, Skeletal dysplasia, Slender distal phalanx of finger, Slender metacarpals, Slender proximal phalanx of finger, Small epiphyses, Soft skin, Spinal dysraphism, Spondyloepimetaphyseal dysplasia, Streaky metaphyseal sclerosis, Wide nose
RG-early	LIFR	1.123909255	0.005589111	Cytokine receptor	BrainSpLMD|3977;Eurexp|euxassay_010649|axial muscle, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, orbito-sphenoid, thymus primordium, thyroid, tongue, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16651	OMIM|151443;COSMIC||salivary adenoma;HPO|3977|Abnormal metaphyseal trabeculation, Abnormality of dental enamel, Abnormality of vision, Absent patellar reflexes, Adducted thumb, Apnea, Asthma, Autosomal recessive inheritance, Blotching pigmentation of the skin, Broad ischia, Camptodactyly of finger, Contracture of the proximal interphalangeal joint of the 5th finger, Dysautonomia, Dysphagia, Elbow flexion contracture, Enlarged joints, Episodic fever, Feeding difficulties, Feeding difficulties in infancy, Femoral bowing, Flared metaphysis, Flexion contracture of toe, Frontal bossing, Generalized hypotonia, Genu valgum, Hoarse voice, Hyperhidrosis, Hypohidrosis, Hypoplastic iliac body, Impaired pain sensation, Intrauterine growth retardation, Knee flexion contracture, Lacrimation abnormality, Low-set ears, Malar flattening, Metaphyseal rarefaction, Metaphyseal widening, Micrognathia, Micromelia, Midface retrusion, Myotonia, Nasal speech, Oligohydramnios, Opacification of the corneal stroma, Osteopenia, Osteoporosis, Paresthesia, Pathologic fracture, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Pursed lips, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Short neck, Short nose, Short palpebral fissure, Short phalanx of finger, Short stature, Short tibia, Single transverse palmar crease, Skeletal dysplasia, Smooth tongue, Square face, Talipes, Talipes equinovarus, Talipes valgus, Thickened cortex of long bones, Thin ribs, Thin skin, Tibial bowing, Trismus, Ulnar deviation of finger, Wide nasal base
RG-early	RC3H2	0.517679858	0.00571654	DNA binding protein	BrainSpLMD|54542	OMIM|615231
RG-early	B3GAT2	1.085015972	0.005839391	Enzyme: Transferase;Integral membrane protein	BrainSpLMD|135152;BrainSpMouseDev|93607	OMIM|607497
RG-early	TYW3	1.221684792	0.005921255	Unclassified	BrainSpLMD|127253	OMIM|611245
RG-early	PBX3	0.293873097	0.005953752	Transcription factor	BrainSpLMD|5090;Eurexp|euxassay_002571|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, pharyngo-tympanic tube, spinal cord;BrainSpMouseDev|18282	OMIM|176312
RG-early	RHEB	1.183914874	0.006007701	GTPase	BrainSpLMD|6009;Eurexp|euxassay_000326|basioccipital bone, basisphenoid bone, dorsal root ganglion, midbrain, nucleus pulposus, olfactory lobe, otic capsule, ventricular layer;BrainSpMouseDev|19507	OMIM|601293
RG-early	RPS26	0.512974883	0.006018286	Ribosomal subunit	Eurexp|euxassay_007095|embryo	OMIM|603701;HPO|6231|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Infantile onset, Macrocytic anemia, Migraine, Pallor, Reticulocytopenia
RG-early	POLR2J	1.176433073	0.006032445	RNA polymerase	BrainSpLMD|5439	OMIM|604150
RG-early	TGIF1	1.228431551	0.006054107	Transcription factor	BrainSpLMD|7050;Eurexp|euxassay_007804|cortex, fundus region, hindgut, lung, midgut, oesophagus, rectum, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|21574	OMIM|602630;HPO|7050|Absent nasal septal cartilage, Autosomal dominant inheritance, Depressed nasal bridge, Depressed nasal tip, Hypotelorism, Median cleft lip, Median cleft lip and palate, Ptosis, Semilobar holoprosencephaly
RG-early	KIF5B	0.506703445	0.006407164	Motor protein	BrainSpLMD|3799;Eurexp|euxassay_019750|olfactory	OMIM|602809;COSMIC||NSCLC, Spitzoid tumour
RG-early	PSMA3	0.504220942	0.00649346	Ubiquitin proteasome system protein	BrainSpLMD|5684;Eurexp|euxassay_003148|axial muscle, basal plate, chondrocranium, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, intermediate grey horn, left lung, mantle layer, marginal layer, molar, orbito-sphenoid, pancreas, right lung, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|176843
RG-early	RPS8	0.580107083	0.006495657	Ribosomal subunit		OMIM|600357
RG-early	PPP4R2	0.350882071	0.006503365	Serine/threonine phosphatase	BrainSpLMD|151987	OMIM|613822
RG-early	IRF2BP2	0.407916051	0.006568433	Transcription regulatory protein	BrainSpLMD|359948	OMIM|615332
RG-early	CCDC18	1.545297789	0.006641505	T cell antigen receptor	BrainSpLMD|343099	
RG-early	RPL8	0.598223294	0.006763575	Ribosomal subunit	BrainSpLMD|6132;Eurexp|euxassay_006230|left, right	OMIM|604177
RG-early	PRR11	1.127524945	0.006773794	Unclassified	BrainSpLMD|55771	OMIM|615920
RG-early	BTBD1	0.780046002	0.006780408	Unclassified	BrainSpLMD|53339	OMIM|608530
RG-early	NUP50	0.512539176	0.006914537	Transport/cargo protein	BrainSpLMD|10762	OMIM|604646
RG-early	CSNK2B	0.732148014	0.006915619	Serine/threonine kinase	BrainSpLMD|1460;BrainSpMouseDev|12784	OMIM|115441
RG-early	DYRK1A	0.911370192	0.006995194	Serine/threonine kinase	BrainSpLMD|1859	SFARI||Autism, 1 - High confidence;OMIM|600855;HPO|1859|Ataxia, Autism, Autosomal dominant inheritance, Bulbous nose, Cerebral cortical atrophy, Deeply set eye, Delayed speech and language development, Failure to thrive in infancy, Febrile seizures, Gait disturbance, Generalized hypotonia, Hallux valgus, Hyperactivity, Hypotelorism, Intellectual disability, severe, Intrauterine growth retardation, Macrotia, Microcephaly, Micrognathia, Narrow forehead, Severe global developmental delay, Small for gestational age, Thickened helices
RG-early	MAGED2	0.265076948	0.007056156	Unclassified	BrainSpLMD|10916	OMIM|300470;HPO|10916|Fetal polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Hyponatremia, Increased circulating renin level, Medullary nephrocalcinosis, Polyhydramnios, Polyuria, Premature birth, X-linked recessive inheritance
RG-early	HIF3A	1.475507908	0.007118287	Transcription factor	BrainSpLMD|64344;BrainSpMouseDev|32897	OMIM|609976
RG-early	CBWD2	1.34802651	0.007126379	Unclassified		OMIM|611079
RG-early	KIF14	1.165254268	0.007209232	Motor protein	BrainSpLMD|9928	OMIM|611279;HPO|9928|Agenesis of corpus callosum, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral hypoplasia, Intrauterine growth retardation, Microcephaly, Oligohydramnios, Renal agenesis, Renal hypoplasia, Rocker bottom foot, Sloping forehead
RG-early	PTAR1	0.465609082	0.00735536	Unclassified		
RG-early	ETF1	0.302702807	0.007538945	Translation regulatory protein	BrainSpLMD|2107	OMIM|600285
RG-early	HNRNPA1P8	0.296493434	0.00762288			
RG-early	NSUN4	1.769312141	0.007638198	Unclassified	BrainSpLMD|387338	OMIM|615394
RG-early	SPAG5	1.082804255	0.007657033	Cytoskeletal associated protein	BrainSpLMD|10615	OMIM|615562
RG-early	ATP6V0E1	0.529195005	0.007711869	ATPase	BrainSpLMD|8992;Eurexp|euxassay_002321|Meckel's cartilage, basisphenoid bone, orbito-sphenoid, turbinate	OMIM|603931
RG-early	MRPL50	1.341674563	0.007761732	Ribosomal subunit	BrainSpLMD|54534	OMIM|611854
RG-early	RBM8A	0.904789437	0.007764593	RNA binding protein	BrainSpLMD|9939;Eurexp|euxassay_006586|embryo	SFARI||Autism, No category;OMIM|605313;HPO|9939|Abnormality of coagulation, Absent radius, Adducted thumb, Anemia, Anteverted nares, Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasia of the ulna, Aplasia/hypoplasia of the humerus, Atrial septal defect, Autosomal recessive inheritance, Bilateral radial aplasia, Brachycephaly, Broad forehead, Broad thumb, Carpal synostosis, Clinodactyly of the 5th finger, Cow milk allergy, Coxa valga, Decreased antibody level in blood, Eosinophilia, Genu varum, High forehead, Hip dislocation, Horseshoe kidney, Intellectual disability, Low-set, posteriorly rotated ears, Meckel diverticulum, Micrognathia, Motor delay, Pancreatic cysts, Patellar aplasia, Patellar dislocation, Seborrheic dermatitis, Seizures, Shoulder muscle hypoplasia, Spina bifida, Thrombocytopenia, Tibial torsion, Ventricular septal defect
RG-early	PSMB3	1.114504056	0.007840811	Ubiquitin proteasome system protein	BrainSpLMD|5691;Eurexp|euxassay_003314|dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, incisor, molar, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|602176
RG-early	CHMP1B	0.882737213	0.00794544	Transport/cargo protein	BrainSpLMD|57132	OMIM|606486
RG-early	GLO1	0.961242922	0.007988891	Enzyme: Lyase	BrainSpLMD|2739	SFARI||Autism, 4 - Minimal evidence;OMIM|138750
RG-early	DCLRE1C	0.795585443	0.008007142	Deoxyribonuclease	BrainSpLMD|64421	OMIM|605988;HPO|64421|Abnormality of lymphocytes, Absent tonsils, Alopecia, Anemia, Aplasia of the thymus, Aplasia/Hypoplasia of the eyebrow, Autosomal recessive inheritance, B lymphocytopenia, Chronic diarrhea, Desquamation of skin soon after birth, Diarrhea, Dry skin, Edema, Eosinophilia, Erythroderma, Failure to thrive, Fever, Genital ulcers, Hepatomegaly, Hypoplasia of the thymus, Hypoproteinemia, Lymph node hypoplasia, Lymphadenopathy, Oral ulcer, Otitis media, Panhypogammaglobulinemia, Phenotypic variability, Pneumonia, Pruritus, Recurrent bacterial infections, Recurrent fungal infections, Recurrent upper respiratory tract infections, Recurrent viral infections, Severe B lymphocytopenia, Severe combined immunodeficiency, Splenomegaly, Thickened skin, Thrombocytopenia
RG-early	PPP1CC	0.719714706	0.008108452	Serine/threonine phosphatase	BrainSpLMD|5501	OMIM|176914
RG-early	HIST1H1A	1.123974525	0.008121835	DNA binding protein	BrainSpLMD|3024	OMIM|142709
RG-early	TOPORS	0.54508545	0.008377221	Ubiquitin proteasome system protein	BrainSpLMD|10210	OMIM|609507;HPO|10210|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Attenuation of retinal blood vessels, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Retinal pigment epithelial atrophy, Rod-cone dystrophy, Sensorineural hearing impairment, Visual field defect, Wide nasal bridge
RG-early	USPL1	0.26180031	0.008463859	Unclassified	BrainSpLMD|10208	OMIM|617470
RG-early	CBX3P9	0.637854954	0.008518157			
RG-early	PSMA1	0.659096849	0.008693867	Protease	BrainSpLMD|5682;Eurexp|euxassay_013664|clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, mandible, metanephros, midgut, molar, naris, neural retina, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, submandibular gland primordium, testis, thymus primordium, thyroid, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|602854
RG-early	OFD1	0.452736568	0.008703933	Unclassified	BrainSpLMD|8481;Eurexp|euxassay_001435|lung, nasal septum, oral epithelium, urethra	SFARI||Autism, 4 - Minimal evidence;OMIM|300170;HPO|8481|Abnormal cortical gyration, Abnormal electroretinogram, Abnormal heart morphology, Abnormality of color vision, Abnormality of retinal pigmentation, Abnormality of the cerebellum, Abnormality of the retinal vasculature, Abnormality of the rib cage, Abnormality of the testis, Abnormality of toe, Accessory oral frenulum, Agenesis of corpus callosum, Agenesis of permanent teeth, Alopecia, Alveolar ridge overgrowth, Anteverted nares, Arachnoid cyst, Ataxia, Atypical scarring of skin, Bifid tongue, Blindness, Brachydactyly, Broad alveolar ridges, Broad palm, Carious teeth, Cataract, Cerebellar vermis hypoplasia, Cleft palate, Clinodactyly, Clinodactyly of the 5th finger, Coarse facial features, Conductive hearing impairment, Cone-shaped epiphysis, Congenital hip dislocation, Congenital onset, Deep philtrum, Downslanted palpebral fissures, Enlarged cisterna magna, Epicanthus, Facial asymmetry, Facial capillary hemangioma, Feeding difficulties in infancy, Finger syndactyly, Foot polydactyly, Frontal bossing, Generalized hypotonia, Glaucoma, Global developmental delay, Gray matter heterotopias, Growth delay, Hamartoma of tongue, Hearing impairment, Hepatic cysts, Hepatic fibrosis, High palate, Hirsutism, Hydrocephalus, Hyperactive deep tendon reflexes, Hyperinsulinemia, Hypertelorism, Hypertension, Hypodontia, Hypogonadism, Hypoplasia of dental enamel, Hypoplasia of penis, Hypothalamic hamartoma, Increased number of teeth, Inguinal hernia, Intellectual disability, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Keratoconus, Lobulated tongue, Low-set ears, Macrocephaly, Median cleft lip, Microcephaly, Micropenis, Microretrognathia, Milia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Ovarian cyst, Photophobia, Pneumonia, Polycystic kidney dysplasia, Polydactyly, Porencephalic cyst, Postaxial polydactyly, Posteriorly rotated ears, Progressive night blindness, Proteinuria, Radial deviation of finger, Recurrent infections, Recurrent respiratory infections, Recurrent upper respiratory tract infections, Reduced bone mineral density, Rod-cone dystrophy, Scaphocephaly, Seizures, Sensorineural hearing impairment, Short finger, Short neck, Short nose, Short stature, Short toe, Single transverse palmar crease, Small nail, Sparse hair, Syndactyly, Talipes equinovarus, Tapered finger, Telecanthus, Thick vermilion border, Thickened nuchal skin fold, Thin upper lip vermilion, Tongue nodules, U-Shaped upper lip vermilion, Underdeveloped nasal alae, Wide intermamillary distance, Wide mouth, Wide nasal bridge, Wide nose, X-linked dominant inheritance, X-linked recessive inheritance
RG-early	AC138035.2	0.733382028	0.008747465			
RG-early	ZNF662	0.368596097	0.008759652	DNA binding protein	BrainSpLMD|389114	
RG-early	SCAND1	0.984450771	0.00881094	Transcription regulatory protein	BrainSpLMD|51282	OMIM|610416
RG-early	NDUFA6	0.503608717	0.008864779	Enzyme: Oxidoreductase	BrainSpLMD|4700	OMIM|602138
RG-early	CNIH1	0.363590522	0.009155087	Integral membrane protein	BrainSpLMD|10175	OMIM|611287
RG-early	PDK1	0.52997029	0.009189972	Enzyme: Phosphotransferase	BrainSpLMD|5163;Eurexp|euxassay_018748|axial skeleton, foregut-midgut junction, hindgut, incisor, mesenchyme, midgut, molar, orbito-sphenoid, rectum, stomach, thymus primordium, turbinate, urethra, ventricular layer, vibrissa	OMIM|602524
RG-early	MYADM	0.606505647	0.009262888	Unclassified	BrainSpLMD|91663;Eurexp|euxassay_004288|femur, footplate, forelimb, hindlimb, mesenchyme, tail	OMIM|609959
RG-early	SNRPA1	1.10276372	0.00968633	Ribonucleoprotein	BrainSpLMD|6627;Eurexp|euxassay_002737|adrenal gland, calyces, dorsal root ganglion, lobe, oesophagus, olfactory, submandibular gland primordium, thymus primordium	OMIM|603521
RG-early	NEK4	0.889625926	0.009695424	Serine/threonine kinase	BrainSpLMD|6787	OMIM|601959
RG-early	SP3	0.269309028	0.009922369	Transcription factor	BrainSpLMD|6670;BrainSpMouseDev|20449	OMIM|601804
U2	COL2A1	4.882211535	0	Extracellular matrix protein	BrainSpLMD|1280;Eurexp|euxassay_013804|axial skeleton, cartilaginous ring, cricoid, floorplate, hindgut, mesenchyme, metanephros, midgut, nasal septum, oesophagus, otic capsule, phalanx, stomach, thyroid, turbinate bones, valve, ventricular layer;BrainSpMouseDev|12607	OMIM|120140;COSMIC||chondrosarcoma, enchondroma, Spondyloepiphyseal Dysplasia Congenita, Achondrogenesis Type II, Stickler Syndrome, Type I and others;HPO|1280|Abdominal distention, Abnormal cartilage collagen, Abnormal enchondral ossification, Abnormality of epiphysis morphology, Abnormality of fibula morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the abdominal wall, Abnormality of the carpal bones, Abnormality of the dentition, Abnormality of the foot, Abnormality of the metaphysis, Abnormality of the sternum, Abnormality of the vitreous humor, Abnormality of the wrist, Abnormality of ulnar metaphysis, Abnormality of vertebral epiphysis morphology, Absent styloid process of ulna, Absent vertebral body mineralization, Acetabular spurs, Anisospondyly, Anonychia, Anterior rib cupping, Anteverted nares, Aplasia/Hypoplasia of the capital femoral epiphysis, Aplasia/Hypoplasia of the lungs, Arachnodactyly, Arthralgia, Arthropathy, Aseptic necrosis, Asteroid hyalosis, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Avascular necrosis of the capital femoral epiphysis, Barrel-shaped chest, Beaking of vertebral bodies, Blindness, Brachydactyly, Broad forehead, Broad long bones, Broad palm, Broad thumb, Bulbous nose, C1-C2 subluxation, Cartilage destruction, Cataract, Cervical myelopathy, Cleft palate, Club-shaped proximal femur, Coarse facial features, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Coronal cleft vertebrae, Coxa valga, Coxa vara, Cystic hygroma, Decreased cranial base ossification, Delayed calcaneal ossification, Delayed epiphyseal ossification, Delayed gross motor development, Delayed pubic bone ossification, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Disc-like vertebral bodies, Disproportionate short stature, Disproportionate short-limb short stature, Disproportionate short-trunk short stature, Disproportionate tall stature, Dumbbell-shaped long bone, Edema, Enlarged joints, Enlarged thorax, Epiphyseal dysplasia, Exostoses, Femoral hernia, Flared metaphysis, Flat acetabular roof, Flat capital femoral epiphysis, Flat face, Flattened epiphysis, Flattened, squared-off epiphyses of tubular bones, Flexion contracture, Frontal bossing, Gait disturbance, Generalized hypotonia, Generalized joint laxity, Genu valgum, Genu varum, Glaucoma, Glossoptosis, Growth abnormality, Hearing impairment, Heberden's node, Hip contracture, Hip dislocation, Hip osteoarthritis, Horizontal ribs, Hydrops fetalis, Hyperlordosis, Hypertelorism, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Hypoplasia of the ulna, Hypoplastic ilia, Hypoplastic iliac wing, Hypoplastic ischia, Hypoplastic pelvis, Hypoplastic pubic bone, Hypoplastic scapulae, Inguinal hernia, Intervertebral space narrowing, Irregular femoral epiphysis, Irregular vertebral endplates, Joint dislocation, Joint hyperflexibility, Joint stiffness, Knee osteoarthritis, Kyphoscoliosis, Kyphosis, Large tarsal bones, Lethal skeletal dysplasia, Limb undergrowth, Limitation of joint mobility, Limitation of knee mobility, Limited elbow extension, Limited elbow movement, Limited hip movement, Long philtrum, Low-set ears, Lower limb asymmetry, Lumbar hyperlordosis, Lumbar kyphoscoliosis, Macrocephaly, Malar flattening, Metaphyseal cupping, Metaphyseal dappling, Metaphyseal dysplasia, Metaphyseal enchondromatosis, Metaphyseal irregularity, Metaphyseal widening, Micrognathia, Micromelia, Midface retrusion, Mild neurosensory hearing impairment, Mild short stature, Mitral valve prolapse, Mixed hearing impairment, Motor delay, Multiple enchondromatosis, Muscular hypotonia of the trunk, Myopia, Narrow chest, Narrow femoral neck, Narrow greater sacrosciatic notches, Narrow iliac wings, Narrow mouth, Neonatal short-limb short stature, Neonatal short-trunk short stature, Osteoarthritis, Ovoid vertebral bodies, Pectus carinatum, Pectus excavatum, Pes planus, Pierre-Robin sequence, Platyspondyly, Polyhydramnios, Premature osteoarthritis, Pretibial blistering, Prominent forehead, Prominent interphalangeal joints, Proptosis, Protuberant abdomen, Pugilistic facies, Pulmonary hypoplasia, Recurrent fractures, Recurrent otitis media, Recurrent pneumonia, Respiratory distress, Restrictive ventilatory defect, Retinal detachment, Retinal dysplasia, Retinal thinning, Retinopathy, Rhegmatogenous retinal detachment, Rhizomelia, Round face, Schmorl's node, Scoliosis, Sensorineural hearing impairment, Severe limb shortening, Severe platyspondyly, Severe short stature, Short distal phalanx of finger, Short distal phalanx of the 2nd finger, Short distal phalanx of the 3rd finger, Short distal phalanx of the 4th finger, Short distal phalanx of the 5th finger, Short femoral neck, Short femur, Short foot, Short long bone, Short metacarpal, Short metatarsal, Short neck, Short nose, Short palm, Short phalanx of finger, Short ribs, Short stature, Short thorax, Short thumb, Short toe, Short tubular bones of the hand, Shortening of all middle phalanges of the fingers, Shortening of all proximal phalanges of the fingers, Skeletal dysplasia, Skeletal muscle atrophy, Skin erosion, Splayed epiphyses, Spondyloepimetaphyseal dysplasia, Spondyloepiphyseal dysplasia, Spondylometaphyseal dysplasia, Stiff neck, Stillbirth, Submucous cleft soft palate, Talipes equinovarus, Thickened nuchal skin fold, Thin ribs, Thoracic kyphosis, Tracheomalacia, Type E brachydactyly, Umbilical hernia, Vertebral segmentation defect, Vitreoretinal degeneration, Waddling gait
U2	KERA	4.044533543	0	Extracellular matrix protein	BrainSpLMD|11081;Eurexp|euxassay_011025|extrinsic ocular muscle, lip, marginal layer, mesenchyme, nasal septum, palatal shelf, skeletal muscle, submandibular gland primordium	OMIM|603288;HPO|11081|Autosomal recessive inheritance, Corneal arcus, Decreased corneal thickness, Flat cornea, Hypermetropia
U2	MME	3.935494232	0	Metallo protease	BrainSpLMD|4311	OMIM|120520;HPO|4311|Adult onset, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Distal amyotrophy, Distal sensory impairment, Dysarthria, Foot dorsiflexor weakness, Gait ataxia, Hyporeflexia, Limb ataxia, Pes cavus, Slow progression, Tremor, Unsteady gait
U2	FMOD	3.866701938	0	Extracellular matrix protein	BrainSpLMD|2331;Eurexp|euxassay_010525|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, diaphragm, femur, fibula, handplate, humerus, hyoid bone, left lung, lower jaw, mandible, meninges, mesenchyme, mesothelium, metatarsus, molar, naris, nasal septum, orbito-sphenoid, paraxial mesenchyme, pericardium, petrous part, phalanx, radius, rib, right lung, roof plate, scapula, tibia, ulna, upper jaw, valve, vault of skull	OMIM|600245
U2	COL14A1	3.812212405	0	Extracellular matrix protein	BrainSpLMD|7373;Eurexp|euxassay_001452|chondrocranium, foregut-midgut junction, head mesenchyme, hindgut, limb, midgut, orbito-sphenoid, paraxial mesenchyme, pectoral girdle and thoracic body wall, stomach, turbinate, vertebral axis muscle system, vibrissa;BrainSpMouseDev|12601	OMIM|120324;HPO|7373|Breast carcinoma, Colon cancer, Hodgkin lymphoma, Neoplasm of the pancreas, Palmoplantar keratoderma, Renal cell carcinoma, Transitional cell carcinoma of the bladder
U2	LUM	3.780979204	0	Extracellular matrix protein	BrainSpLMD|4060;Eurexp|euxassay_001718|bladder, clavicle, cochlea, dermis, diaphragm, fundus region, head mesenchyme, hindgut, meninges, midgut, rib, skeletal muscle, stomach, vertebral axis muscle system	OMIM|600616
U2	ACAN	3.704067169	0	Extracellular matrix protein	BrainSpLMD|176;Eurexp|euxassay_000376|axial skeleton, cranium, nasal capsule, pectoral girdle and thoracic body wall	OMIM|155760;HPO|176|Abnormality of epiphysis morphology, Abnormality of the nail, Absent nasal bridge, Autosomal dominant inheritance, Autosomal recessive inheritance, Barrel-shaped chest, Brachydactyly, Broad thumb, Delayed skeletal maturation, Developmental stagnation, Exostoses, Flat capital femoral epiphysis, Functional respiratory abnormality, Genu valgum, Genu varum, Growth abnormality, Hoarse voice, Joint laxity, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Mandibular prognathia, Mesomelia, Micromelia, Midface retrusion, Osteoarthritis, Osteochondritis Dissecans, Platyspondyly, Proportionate short stature, Relative macrocephaly, Rhizomelia, Short neck, Short stature, Short thorax, Short thumb, Spondyloepimetaphyseal dysplasia, Spondyloepiphyseal dysplasia, Waddling gait
U2	COL3A1	3.657772695	0	Extracellular matrix protein	BrainSpLMD|1281;Eurexp|euxassay_004670|alimentary system, cardiovascular system, gland, integumental system, meninges, renal/urinary system, reproductive system, respiratory system;BrainSpMouseDev|12608	OMIM|120180;COSMIC||lipoblastoma;HPO|1281|Abnormality of oral frenula, Abnormality of the eyelashes, Abnormality of the urinary system, Absent earlobe, Alopecia of scalp, Aortic dissection, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Arterial dissection, Arteriovenous fistulas of celiac and mesenteric vessels, Autosomal dominant inheritance, Bladder diverticulum, Bruising susceptibility, Carious teeth, Cigarette-paper scars, Cognitive impairment, Convex nasal ridge, Cryptorchidism, Dermal translucency, Dilatation of the cerebral artery, Epicanthus, Excessive wrinkled skin, Fine hair, Flat face, Foot acroosteolysis, Fragile skin, Gastrointestinal infarctions, Glaucoma, Global developmental delay, Hemoptysis, Hyperextensible skin, Hypermobility of distal interphalangeal joints, Hypertelorism, Hypokalemia, Inguinal hernia, Intellectual disability, Internal hemorrhage, Irregular hyperpigmentation, Joint dislocation, Joint hyperflexibility, Joint hypermobility, Joint laxity, Keratoconus, Lipoatrophy, Macule, Melanocytic nevus, Micrognathia, Mitral valve prolapse, Molluscoid pseudotumors, Osteoarthritis, Osteolytic defects of the phalanges of the hand, Pectus excavatum, Periodontitis, Peripheral arteriovenous fistula, Pneumothorax, Premature birth, Premature delivery because of cervical insufficiency or membrane fragility, Premature loss of teeth, Proptosis, Protruding ear, Respiratory insufficiency, Scoliosis, Short foot, Short stature, Small hand, Soft skin, Spontaneous pneumothorax, Sprengel anomaly, Striae distensae, Talipes equinovarus, Telangiectasia of the skin, Telecanthus, Thin skin, Thin vermilion border, Uterine prolapse, Varicose veins
U2	CD109	3.63733491	0	Unclassified	BrainSpLMD|135228;BrainSpMouseDev|88069	OMIM|608859
U2	COL5A2	3.564683818	0	Extracellular matrix protein	BrainSpLMD|1290;BrainSpMouseDev|12615	OMIM|120190;HPO|1290|Aortic dilatation, Aortic root dilatation, Atrophic scars, Autosomal dominant inheritance, Blue sclerae, Bowel diverticulosis, Bruising susceptibility, Cigarette-paper scars, Congenital diaphragmatic hernia, Ectopia lentis, Epicanthus, Femoral hernia, Fragile skin, Gastroesophageal reflux, Genu recurvatum, Hallux valgus, Hyperextensibility at elbow, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Hyperextensible skin, Infantile muscular hypotonia, Inguinal hernia, Irregularly spaced teeth, Joint dislocation, Joint hyperflexibility, Lop ear, Mitral valve prolapse, Molluscoid pseudotumors, Myopia, Narrow maxilla, Osteoarthritis, Pectus carinatum, Pectus excavatum, Pes planus, Poor wound healing, Premature birth following premature rupture of fetal membranes, Scoliosis, Short stature, Soft skin, Subcutaneous spheroids, Thin skin, Umbilical hernia, Varicose veins
U2	BNC2	3.551191353	0	Transcription factor	BrainSpLMD|54796;Eurexp|euxassay_016203|facial VII, mantle layer	OMIM|608669
U2	PRSS35	3.537179517	0	Protease	BrainSpLMD|167681	
U2	COL1A1	3.532854615	0	Extracellular matrix protein	BrainSpLMD|1277;BrainSpMouseDev|12625	OMIM|120150;COSMIC||DFSP, aneurysmal bone cyst, Osteogenesis imperfecta;HPO|1277|Abnormality of pelvic girdle bone morphology, Abnormality of the nervous system, Abnormality of the thorax, Absent ossification of calvaria, Aortic dilatation, Aortic root dilatation, Atrophic scars, Autosomal dominant inheritance, Autosomal recessive inheritance, Basilar impression, Beaded ribs, Behavioral abnormality, Biconcave flattened vertebrae, Biconcave vertebral bodies, Blue sclerae, Bowel diverticulosis, Bowing of limbs due to multiple fractures, Breech presentation, Broad long bones, Bruising susceptibility, Calvarial hyperostosis, Cellulitis, Cigarette-paper scars, Congenital bilateral hip dislocation, Congenital diaphragmatic hernia, Congestive heart failure, Convex nasal ridge, Cortical irregularity, Crumpled long bones, Decreased calvarial ossification, Delayed gross motor development, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Ectopia lentis, Epicanthus, Erythema, Femoral bowing, Femoral bowing present at birth, straightening with time, Femoral hernia, Fever, Fibrosarcoma, Fragile skin, Frontal bossing, Gastroesophageal reflux, Generalized hypotonia, Genu recurvatum, Growth abnormality, Hallux valgus, Hearing impairment, Hyperesthesia, Hyperextensibility at elbow, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Hyperextensible skin, Increased susceptibility to fractures, Infantile muscular hypotonia, Inguinal hernia, Irregularly spaced teeth, Joint dislocation, Joint hyperflexibility, Joint hypermobility, Joint laxity, Kyphosis, Large fontanelles, Lop ear, Malar flattening, Micrognathia, Midface retrusion, Mild short stature, Mitral valve prolapse, Molluscoid pseudotumors, Multiple prenatal fractures, Muscle weakness, Myopia, Narrow maxilla, Neonatal short-limb short stature, Neoplasm of the skin, Nonimmune hydrops fetalis, Osteoarthritis, Osteopenia, Otosclerosis, Pectus carinatum, Pectus excavatum, Periosteal thickening of long tubular bones, Pes planus, Platybasia, Platyspondyly, Poor wound healing, Premature birth, Premature birth following premature rupture of fetal membranes, Premature osteoarthritis, Protrusio acetabuli, Pulmonary arterial hypertension, Pulmonary insufficiency, Recurrent fractures, Reduced bone mineral density, Respiratory insufficiency, Scoliosis, Severe generalized osteoporosis, Short stature, Skin ulcer, Slender long bone, Small for gestational age, Soft skin, Subcutaneous nodule, Subcutaneous spheroids, Thickened skin, Thin skin, Tibial bowing, Triangular face, Umbilical hernia, Varicose veins, Wide anterior fontanel, Wormian bones
U2	COL12A1	3.525917209	0	Extracellular matrix protein	BrainSpLMD|1303;BrainSpMouseDev|12599	OMIM|120320;HPO|1303|Abnormality of the palate, Adducted thumb, Areflexia, Cachexia, Camptodactyly of finger, Congenital muscular dystrophy, Decreased fetal movement, Diaphragmatic weakness, EMG abnormality, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated serum creatine phosphokinase, Esotropia, Facial palsy, Flexion contracture, Frequent falls, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, High palate, Hip dislocation, Hyperextensibility at wrists, Increased endomysial connective tissue, Increased laxity of fingers, Increased variability in muscle fiber diameter, Joint hypermobility, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Long toe, Micrognathia, Motor delay, Muscle weakness, Muscular hypotonia, Myopathy, Pes valgus, Respiratory failure, Respiratory insufficiency, Scoliosis, Short neck, Slender finger, Spinal rigidity, Torticollis
U2	DKK2	3.506762155	0	Ligand	BrainSpLMD|27123;BrainSpMouseDev|36090	OMIM|605415
U2	COL1A2	3.476366378	0	Extracellular matrix protein	BrainSpLMD|1278;Eurexp|euxassay_004456|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, renal/urinary system, reproductive system, respiratory system, skeleton, tail, vertebral axis muscle system	OMIM|120160;HPO|1278|Abnormality of pelvic girdle bone morphology, Abnormality of the nervous system, Abnormality of the thorax, Absent ossification of calvaria, Aortic regurgitation, Atrophic scars, Autosomal dominant inheritance, Autosomal recessive inheritance, Basilar impression, Beaded ribs, Biconcave flattened vertebrae, Biconcave vertebral bodies, Blue sclerae, Bowing of limbs due to multiple fractures, Breech presentation, Broad long bones, Bruising susceptibility, Calcaneovalgus deformity, Congenital bilateral hip dislocation, Congestive heart failure, Convex nasal ridge, Crumpled long bones, Decreased calvarial ossification, Delayed gross motor development, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Excessive wrinkled skin, Femoral bowing present at birth, straightening with time, Frontal bossing, Gastroesophageal reflux, Generalized hypotonia, Genu recurvatum, Hearing impairment, Hernia, Hyperextensible skin, Increased susceptibility to fractures, Inguinal hernia, Joint hyperflexibility, Joint laxity, Kyphosis, Large fontanelles, Malar flattening, Micrognathia, Midface retrusion, Mild short stature, Mitral regurgitation, Mitral valve prolapse, Multiple prenatal fractures, Muscle weakness, Neonatal short-limb short stature, Nonimmune hydrops fetalis, Osteopenia, Otosclerosis, Pectus excavatum, Pes planus, Platybasia, Platyspondyly, Poor wound healing, Premature birth, Premature osteoarthritis, Protrusio acetabuli, Pulmonary arterial hypertension, Pulmonary insufficiency, Recurrent fractures, Reduced bone mineral density, Respiratory insufficiency, Scoliosis, Severe generalized osteoporosis, Short stature, Slender long bone, Small for gestational age, Soft skin, Subcutaneous hemorrhage, Thin skin, Tibial bowing, Triangular face, Wide anterior fontanel, Wormian bones
U2	GPNMB	3.471622525	0	Integral membrane protein;Unclassified	BrainSpLMD|10457;Eurexp|euxassay_003884|submandibular gland primordium, thymus primordium, thyroid, trachea, ventricle, vibrissa	OMIM|604368
U2	DCN	3.4319412	0	Extracellular matrix protein	BrainSpLMD|1634;BrainSpMouseDev|12959	OMIM|125255;HPO|1634|Autosomal dominant inheritance, Congenital corneal dystrophy, Increased corneal thickness, Progressive visual loss
U2	AC133106.2	3.391982746	0			
U2	GPX8	3.380350024	0	Unclassified	BrainSpLMD|493869;Eurexp|euxassay_003757|alimentary system, brain, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, spinal cord, tail	OMIM|617172
U2	PDGFRL	3.367702947	0	Cell surface receptor	BrainSpLMD|5157;Eurexp|euxassay_001625|Meckel's cartilage, axial muscle, limb, palatal shelf, penis, physiological umbilical hernia, rib, tail	OMIM|604584;HPO|5157|Autosomal dominant inheritance, Hepatocellular carcinoma, Heterogeneous, Micronodular cirrhosis, Somatic mutation, Subacute progressive viral hepatitis
U2	SVEP1	3.346422835	0	Adhesion molecule	Eurexp|euxassay_013843|bladder, ductus deferens, hindgut, lip, midgut, oesophagus, stomach, turbinate bones	OMIM|611691
U2	PCOLCE	3.296343027	0	Extracellular matrix protein	BrainSpLMD|5118	OMIM|600270
U2	TBX15	3.295817065	0	Transcription factor	Eurexp|euxassay_000953|dermis, diaphragm, mesenchyme, skeleton;BrainSpMouseDev|21145	OMIM|604127;HPO|6913|2-3 toe syndactyly, 4-5 toe syndactyly, Abnormal facial shape, Abnormality of the joint spaces of the elbow, Abnormality of the pinna, Abnormality of the skull base, Absent proximal finger flexion creases, Alveolar ridge overgrowth, Ambiguous genitalia, female, Ambiguous genitalia, male, Anterior rounding of vertebral bodies, Autosomal recessive inheritance, Bell-shaped thorax, Blepharophimosis, Brachydactyly, Camptodactyly, Cleft palate, Clinodactyly of the 5th finger, Congenital hip dislocation, Deeply set eye, Dislocated radial head, Elbow flexion contracture, Facial hirsutism, Fibular aplasia, Frontal bossing, Hearing impairment, Humeroradial synostosis, Hydranencephaly, Hydrocephalus, Hydronephrosis, Hypertelorism, Hypoplastic ilia, Hypoplastic iliac wing, Hypoplastic ischia, Hypoplastic pubic bone, Hypoplastic scapulae, Joint contracture of the hand, Long clavicles, Low posterior hairline, Low-set ears, Macrocephaly, Mesomelia, Mesomelic leg shortening, Microcornea, Microglossia, Micrognathia, Microphthalmia, Microtia, first degree, Prominent protruding coccyx, Redundant neck skin, Rhizomelia, Short femur, Short neck, Short palpebral fissure, Short stature, Stenosis of the external auditory canal, Strabismus, Talipes equinovarus, Toe syndactyly, Wrist flexion contracture
U2	ROR1	3.233403413	0	Receptor tyrosine kinase	BrainSpLMD|4919;BrainSpMouseDev|26310	OMIM|602336
U2	LGALS1	3.218993383	0	Ligand	BrainSpLMD|3956;Eurexp|euxassay_004032|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|16623	OMIM|150570
U2	SRPX	3.212251412	0	Unclassified	BrainSpLMD|8406;Eurexp|euxassay_003802|axial skeleton, cranium, intervertebral disc, otic capsule, turbinate, turbinate bones, vertebral cartilage condensation	OMIM|300187
U2	EGFL6	3.21219519	0	Secreted polypeptide	BrainSpLMD|25975;Eurexp|euxassay_002381|dermis, epidermis, lip	OMIM|300239
U2	TGFBI	3.205293317	0	Ligand	BrainSpLMD|7045;Eurexp|euxassay_011706|associated mesenchyme, axial skeleton, basioccipital bone, basisphenoid bone, capsule, cartilaginous ring, clavicle, femur, fibula, head mesenchyme, humerus, inner ear, left lung, metatarsus, midgut, naris, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, rectum, renal/urinary system, rib, right lung, scapula, skeletal muscle, sternum, stomach, tarsus, tibia, trigeminal V, turbinate bones, valve, vault of skull, ventricle, vibrissa	OMIM|601692;HPO|7045|Autosomal dominant inheritance, Cataract, Corneal dystrophy, Corneal erosion, Corneal scarring, Granular corneal dystrophy, Juvenile epithelial corneal dystrophy, Lattice corneal dystrophy, Map-dot-fingerprint corneal dystrophy, Nodular corneal dystrophy, Opacification of the corneal stroma, Photophobia, Progressive visual loss, Punctate corneal dystrophy, Recurrent corneal erosions, Reduced visual acuity, Strabismus, Visual impairment
U2	ISLR	3.183173751	0	Adhesion molecule	BrainSpLMD|3671;Eurexp|euxassay_002017|alimentary system, cavities and their linings, gland, integumental system, limb, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, vertebral axis muscle system	OMIM|602059
U2	CPED1	3.181275681	0	Unclassified	BrainSpLMD|79974;Eurexp|euxassay_009303|capsule, dermis, ear, footplate, handplate, head mesenchyme, left lung, meninges, mesenchyme, midgut, right lung, stomach, vibrissa	
U2	RBMS1	3.147362121	0	DNA binding protein	BrainSpLMD|5937	OMIM|602310
U2	COL6A3	3.132979002	0	Extracellular matrix protein	BrainSpLMD|1293	OMIM|120250;HPO|1293|Abnormality of the cardiovascular system, Abnormality of the palate, Adducted thumb, Ankle contracture, Autosomal dominant inheritance, Autosomal recessive inheritance, Cachexia, Camptodactyly of finger, Congenital muscular dystrophy, Congenital muscular torticollis, Decreased fetal movement, Diaphragmatic weakness, Distal muscle weakness, EMG abnormality, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated serum creatine phosphokinase, Esotropia, Facial palsy, Failure to thrive, Feeding difficulties in infancy, Flexion contracture, Follicular hyperkeratosis, Frequent falls, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, High palate, Hip dislocation, Hyperextensibility at wrists, Hyperhidrosis, Increased endomysial connective tissue, Increased laxity of ankles, Increased laxity of fingers, Increased variability in muscle fiber diameter, Infantile onset, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphosis, Laryngeal dystonia, Limb-girdle muscle weakness, Long toe, Micrognathia, Mildly elevated creatine phosphokinase, Motor delay, Muscle fiber necrosis, Myopathy, Neonatal hypotonia, Nocturnal hypoventilation, Oromandibular dystonia, Pes valgus, Postural tremor, Progressive, Protruding ear, Proximal muscle weakness, Recurrent lower respiratory tract infections, Respiratory failure, Respiratory insufficiency due to muscle weakness, Round face, Scoliosis, Short neck, Skeletal muscle atrophy, Slender build, Slender finger, Slow progression, Spinal rigidity, Talipes equinovarus, Torticollis, Type 1 muscle fiber predominance, Variable expressivity, Writer's cramp
U2	PRRX1	3.119550008	0	Transcription regulatory protein	BrainSpLMD|5396;Eurexp|euxassay_014259|associated mesenchyme, mesenchyme, metatarsus, nasal septum, penis, pharyngo-tympanic tube;BrainSpMouseDev|18696	OMIM|167420;COSMIC||AML;HPO|5396|Abnormality of the cranial nerves, Abnormality of the eye, Absent nares, Agenesis of corpus callosum, Aglossia, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the eyebrow, Autosomal dominant inheritance, Autosomal recessive inheritance, Cleft palate, Conductive hearing impairment, Cyclopia, Downslanted palpebral fissures, Holoprosencephaly, Hypoplasia of penis, Hypoplasia of the epiglottis, Laryngeal hypoplasia, Low-set, posteriorly rotated ears, Mandibular aplasia, Microglossia, Micrognathia, Narrow internal auditory canal, Narrow mouth, Phenotypic variability, Polyhydramnios, Respiratory distress, Situs inversus totalis, Synotia, Tracheomalacia
U2	SLIT3	3.109835406	0	Ligand	BrainSpLMD|6586;BrainSpMouseDev|20326	SFARI||Autism, No category;OMIM|603745
U2	SMOC2	3.102329085	0	Calcium binding protein	BrainSpLMD|64094;BrainSpMouseDev|40707	OMIM|607223;HPO|64094|Autosomal dominant inheritance, Autosomal recessive inheritance, Dentinogenesis imperfecta limited to primary teeth, Obliteration of the pulp chamber, Periapical bone loss
U2	SPARC	3.09357277	0	Secreted polypeptide	BrainSpLMD|6678;BrainSpMouseDev|20454	OMIM|182120;HPO|6678|Autosomal recessive inheritance, Decreased muscle mass, Delayed speech and language development, Motor delay, Muscle weakness, Muscular hypotonia, Osteoporosis, Scoliosis, Short stature, Soft skin, Thin metacarpal cortices, Vertebral compression fractures
U2	SFRP2	3.082620028	0	Secreted polypeptide	BrainSpLMD|6423;BrainSpMouseDev|20082	OMIM|604157
U2	GPC3	3.073409023	0	Integral membrane protein	BrainSpLMD|2719;Eurexp|euxassay_001524|cardiovascular system, choroid plexus, gland, integumental system, lateral recess, skeleton, tail, visceral organ;BrainSpMouseDev|14510	OMIM|300037;COSMIC||Wilms tumour;HPO|2719|2-3 finger syndactyly, Abdominal pain, Abnormal lung lobation, Abnormality of the helix, Abnormality of the ribs, Accelerated skeletal maturation, Agenesis of corpus callosum, Anteverted nares, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Birth length greater than 97th percentile, Broad foot, Broad palm, Broad secondary alveolar ridge, Broad thumb, Broad toe, Bundle branch block, Camptodactyly of finger, Cardiomyopathy, Cerebellar vermis hypoplasia, Cervical ribs, Cleft palate, Clinodactyly of the 5th finger, Coarse facial features, Congenital diaphragmatic hernia, Cryptorchidism, Death in infancy, Dental malocclusion, Depressed nasal bridge, Diastasis recti, Downslanted palpebral fissures, Duplication of renal pelvis, Enlarged kidney, Epicanthus, Finger syndactyly, Flared iliac wings, Generalized hypotonia, Hearing impairment, Hepatomegaly, Heterogeneous, High, narrow palate, Hydrocephalus, Hydronephrosis, Hydroureter, Hypertelorism, Hypoglycemia, Hypospadias, Increased IgE level, Inguinal hernia, Intestinal malrotation, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Mandibular prognathia, Meckel diverticulum, Multicystic kidney dysplasia, Nail dysplasia, Narrow sacroiliac notch, Nephroblastoma, Neurological speech impairment, Omphalocele, Pancreatic islet-cell hyperplasia, Patent ductus arteriosus, Pectus excavatum, Polyhydramnios, Polysplenia, Postaxial hand polydactyly, Posterior helix pit, Preauricular pit, Preauricular skin tag, Prolonged QT interval, Pulmonic stenosis, Renal cyst, Scoliosis, Short 2nd finger, Short distal phalanx of finger, Short foot, Short neck, Short nose, Short palm, Short sacroiliac notch, Short toe, Six lumbar vertebrae, Small nail, Somatic mutation, Splenomegaly, Submucous cleft lip, Supernumerary nipple, Talipes equinovarus, Tall stature, Toe syndactyly, Transposition of the great arteries, Two carpal ossification centers present at birth, Umbilical hernia, Ureteral duplication, Ventricular septal defect, Vertebral fusion, Vertebral segmentation defect, Webbed neck, Wide mouth, Wide nasal bridge, X-linked recessive inheritance
U2	GXYLT2	3.070715261	0	Enzyme: Transferase	Eurexp|euxassay_004176|aorta, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, orbito-sphenoid, petrous part, radius, rib, skeletal muscle, tibia, ulna	OMIM|613322
U2	CTHRC1	3.064517525	0	Extracellular matrix protein	BrainSpLMD|115908;Eurexp|euxassay_010954|axial skeleton, basioccipital bone, basisphenoid bone, calyces, carpus, clavicle, cornea, diaphragm, femur, fibula, humerus, hyoid bone, mandible, maxilla, meninges, mesenchyme, metacarpus, metatarsus, midgut, naris, nasal septum, oesophagus, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, stomach, tarsus, thyroid, tibia, tongue, turbinate bones, ulna, valve, vault of skull	OMIM|610635;HPO|115908|Barrett esophagus, Esophageal carcinoma, Somatic mutation
U2	HMCN1	3.056154206	0	Extracellular matrix protein	BrainSpLMD|83872	OMIM|608548
U2	PCSK9	3.049431963	0	Aminopeptidase	BrainSpLMD|255738;Eurexp|euxassay_002970|anal canal, calyces, foregut-midgut junction, hindgut, incisor, lobe, marginal layer, midgut, pancreas, rectum, stomach	OMIM|607786;HPO|255738|Abnormality of internal carotid artery, Angina pectoris, Aortic atherosclerosis, Autosomal dominant inheritance, Cerebral artery atherosclerosis, Coronary atherosclerosis, Dyspnea, Heart murmur, Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia, Hypertension, Increased circulating low-density lipoprotein levels, Left ventricular failure, Myocardial infarction, Myocardial steatosis, Peripheral arterial stenosis, Precocious atherosclerosis, Premature arteriosclerosis, Premature coronary artery disease, Renal artery stenosis, Sudden cardiac death
U2	ANXA1	3.036511067	0	Calcium binding protein	BrainSpLMD|301;Eurexp|euxassay_004813|clavicle, epidermis, fundus region, left lung, mandible, oesophagus, oral epithelium, rib, right lung, stomach, submandibular gland primordium, thyroid, trachea, urethra, ventricular layer, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|151690
U2	OGN	3.025493631	0	Growth factor	BrainSpLMD|4969;Eurexp|euxassay_002859|4th ventricle, body-wall mesenchyme, choroid plexus, diaphragm, foregut-midgut junction, hindgut, intervertebral disc, lateral recess, lip, loop, mandible, mesenchyme, midgut, nasal septum, otic capsule, premaxilla, rectum, rib, skeletal muscle, stomach, turbinate bones, vertebral axis muscle system, vertebral cartilage condensation	OMIM|602383
U2	ALCAM	3.012074551	0	Adhesion molecule	BrainSpLMD|214;Eurexp|euxassay_003463|bladder, dorsal root ganglion, epithelium, extrinsic ocular muscle, lung, mantle layer, mesenchyme, nucleus pulposus, saccule, stomach, submandibular gland primordium, trachea, urethra, ventricular layer, vibrissa;BrainSpMouseDev|11445	OMIM|601662
U2	RUNX2	3.009853151	0	Transcription factor	BrainSpLMD|860;Eurexp|euxassay_019459|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, metatarsus, orbito-sphenoid, palatal shelf, pelvic girdle, phalanx, rib, scapula, tibia, turbinate, vault of skull, vibrissa;BrainSpMouseDev|12178	OMIM|600211;HPO|860|Abnormal facility in opposing the shoulders, Abnormality of dental enamel, Abnormality of the metacarpal bones, Abnormality of the ribs, Abnormality of the sacrum, Absent frontal sinuses, Absent paranasal sinuses, Aplastic clavicles, Autosomal dominant inheritance, Brachydactyly, Carious teeth, Cervical ribs, Chronic otitis media, Cleft palate, Cone-shaped epiphyses of the phalanges of the hand, Convex nasal ridge, Coxa vara, Decreased skull ossification, Delayed eruption of permanent teeth, Delayed eruption of primary teeth, Delayed eruption of teeth, Delayed pubic bone ossification, Depressed nasal bridge, Dimple chin, Down-sloping shoulders, Flared metaphysis, Frontal bossing, Hearing impairment, High palate, High, narrow palate, Hypertelorism, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hypoplastic frontal sinuses, Hypoplastic iliac wing, Hypoplastic inferior ilia, Hypoplastic scapulae, Increased bone mineral density, Increased number of teeth, Increased susceptibility to fractures, Kyphosis, Large fontanelles, Large foramen magnum, Long second metacarpal, Malar flattening, Mandibular prognathia, Metaphyseal dysplasia, Micrognathia, Midface retrusion, Moderately short stature, Multiple small vertebral fractures, Narrow chest, Narrow palate, Neonatal respiratory distress, Open bite, Osteoporosis, Osteoporosis of vertebrae, Parietal bossing, Persistent open anterior fontanelle, Platyspondyly, Premature loss of teeth, Recurrent respiratory infections, Scoliosis, Short 5th metacarpal, Short clavicles, Short face, Short femoral neck, Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Short philtrum, Short ribs, Short stature, Sinusitis, Skeletal dysplasia, Sloping forehead, Spina bifida occulta, Spondylolisthesis, Spondylolysis, Syringomyelia, Thickened calvaria, Thin vermilion border, Wide pubic symphysis, Wormian bones
U2	FRZB	2.989494685	0	Integral membrane protein	BrainSpLMD|2487;Eurexp|euxassay_018108|Meckel's cartilage, adrenal gland, aorta, chondrocranium, clavicle, cortex, dorsal grey horn, epithelium, incisor, intermediate grey horn, mandible, marginal layer, maxilla, mitral valve, molar, orbito-sphenoid, penis, petrous part, rib, spleen primordium, sternum, testis, tricuspid valve, ventricular layer;BrainSpMouseDev|20141	OMIM|605083
U2	HAPLN1	2.982514287	0	Extracellular matrix protein	BrainSpLMD|1404	OMIM|115435
U2	MSX2	2.979120886	0	Transcription factor	BrainSpLMD|4488;Eurexp|euxassay_019605|adrenal gland, incisor, molar, penis, vibrissa;BrainSpMouseDev|17469	OMIM|123101;HPO|4488|Aplasia cutis congenita of scalp, Autosomal dominant inheritance, Bicoronal synostosis, Brachyturricephaly, Cleft palate, Cleft upper lip, Dermoid cyst, Encephalocele, Frontal bossing, Headache, Heterogeneous, Macrocephaly, Microtia, Parietal foramina, Seizures, Short clavicles, Symmetrical, oval parietal bone defects, Trigonocephaly, Unicoronal synostosis, Widely patent fontanelles and sutures
U2	SGCD	2.971350336	0	Adhesion molecule	BrainSpLMD|6444;Eurexp|euxassay_009461|mandible, maxilla;BrainSpMouseDev|23803	OMIM|601411;HPO|6444|Autosomal dominant inheritance, Autosomal recessive inheritance, Calf muscle hypertrophy, Difficulty walking, Dilated cardiomyopathy, Elevated serum creatine phosphokinase, Gowers sign, Muscular dystrophy, Proximal amyotrophy, Proximal muscle weakness, Reduced systolic function, Scapular winging, Ventricular hypertrophy
U2	PPIC	2.95059882	0	Chaperone	BrainSpLMD|5480	OMIM|123842
U2	NR3C1	2.893098708	0	Nuclear receptor;Transcription factor	BrainSpLMD|2908;BrainSpMouseDev|14591	OMIM|138040;HPO|2908|Abnormal serum testosterone level, Acne, Adrenal hyperplasia, Autosomal dominant inheritance, Decreased circulating aldosterone level, Fatigue, Hirsutism, Hypertension, Hypoglycemia, Hypokalemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased urinary cortisol level, Metabolic alkalosis, Oligomenorrhea
U2	RRM2	2.886299617	0	Cell cycle control protein	BrainSpLMD|6241;Eurexp|euxassay_004733|footplate, handplate, hindbrain, leg, liver, lung, mantle layer, mesenchyme, metanephros, olfactory, retina, spinal cord, tail, ventricular layer, vibrissa	OMIM|180390
U2	FAM46A	2.880437845	0	Unclassified	BrainSpLMD|55603;Eurexp|euxassay_008026|clavicle, fibula, mandible, maxilla, orbito-sphenoid, rib, tibia	OMIM|611357
U2	COL11A1	2.879174112	0	Extracellular matrix protein	BrainSpLMD|1301;Eurexp|euxassay_004200|axial skeleton, clavicle, cranium, femur, fibula, footplate, handplate, humerus, hyoid bone, mandible, nasal septum, otic capsule, palatal shelf, pelvic girdle, radius, rib, sternum, tibia, turbinate bones, ulna;BrainSpMouseDev|12597	OMIM|120280;HPO|1301|Abnormal diaphysis morphology, Abnormal form of the vertebral bodies, Abnormality of the dentition, Abnormality of the metaphysis, Abnormality of the pinna, Abnormality of the vitreous humor, Absent frontal sinuses, Amblyopia, Anterior rib cupping, Anteverted nares, Arachnodactyly, Arthralgia, Arthropathy, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bifid uvula, Brachycephaly, Brachydactyly, Broad ischia, Broad long bones, Broad ribs, Calcification of falx cerebri, Camptodactyly, Cataract, Cerebral calcification, Cleft palate, Clinodactyly of the 5th finger, Congenital cataract, Corneal opacity, Coxa valga, Depressed nasal bridge, Downslanted palpebral fissures, Dumbbell-shaped long bone, Ectopia lentis, Epicanthus, Epiphyseal dysplasia, Esotropia, Femoral bowing, Fibular hypoplasia, Flat face, Frontal bossing, Genu valgum, Glaucoma, Glossoptosis, Hearing abnormality, Hydrops fetalis, Hypertelorism, Hypohidrosis, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hypoplastic fingernail, Hypoplastic frontal sinuses, Hypoplastic ilia, Hypoplastic ischia, Hypoplastic scapulae, Hypoplastic toenails, Hypotrichosis, Irregular distal femoral epiphysis, Irregular proximal tibial epiphyses, Irregular vertebral endplates, Joint contracture of the hand, Joint hyperflexibility, Joint hypermobility, Lens luxation, Long clavicles, Long fingers, Long philtrum, Low-set ears, Macrodontia of permanent maxillary central incisor, Malar flattening, Megalocornea, Meningeal calcification, Micrognathia, Micromelia, Midface retrusion, Myopia, Narrow chest, Narrow greater sacrosciatic notches, Narrow mouth, Omphalocele, Osteoarthritis, Patent foramen ovale, Pierre-Robin sequence, Platyspondyly, Posterior rib cupping, Posterior vertebral hypoplasia, Premature birth, Proptosis, Protuberant abdomen, Radial bowing, Respiratory insufficiency, Retinal detachment, Retinopathy, Rhizomelia, Round face, Sensorineural hearing impairment, Severe Myopia, Short femur, Short foot, Short long bone, Short neck, Short nose, Short palm, Short ribs, Short stature, Small distal femoral epiphysis, Small hand, Small proximal tibial epiphyses, Spondyloepiphyseal dysplasia, Stillbirth, Thick lower lip vermilion, Thick upper lip vermilion, Thickened calvaria, Thin clavicles, Thin ribs, Thoracic hypoplasia, Ulnar bowing, Upper airway obstruction, Visual impairment, Vitreoretinal degeneration, Wide anterior fontanel, Wide nasal bridge, Wide tufts of distal phalanges, Widely patent coronal suture, Widely patent sagittal suture
U2	LOX	2.866151767	0	Enzyme: Oxidase	BrainSpLMD|4015	OMIM|153455;HPO|4015|Abnormality of the iris, Aortic regurgitation, Ascending aortic dissection, Autosomal dominant inheritance, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Exertional dyspnea, Hypertension, Left ventricular failure, Paroxysmal dyspnea
U2	DDR2	2.853720287	0	Receptor tyrosine kinase	BrainSpLMD|4921;Eurexp|euxassay_010957|mandible, maxilla, midgut, oesophagus, stomach;BrainSpMouseDev|17981	OMIM|191311;COSMIC||squamous cell carcinoma, NSCLC, Spondylometaepiphyseal dysplasia, short limb-hand type;HPO|4921|Abnormal calcification of the carpal bones, Abnormality of the neck, Anterior rib cupping, Atlantoaxial instability, Autosomal recessive inheritance, Bell-shaped thorax, Bowing of the legs, Broad metacarpals, Broad phalanx, C1-C2 subluxation, Calcification of falx cerebri, Depressed nasal bridge, Disproportionate short-limb short stature, Elbow flexion contracture, Epiphyseal stippling, Flared iliac wings, Flared metaphysis, Frontal bossing, Generalized hypotonia, Global developmental delay, High palate, Hip subluxation, Hypertelorism, Hypoplasia of the odontoid process, Knee flexion contracture, Long fibula, Malar flattening, Metatarsus adductus, Micrognathia, Micromelia, Midface retrusion, Muscular hypotonia, Pectus excavatum, Platyspondyly, Posterior rib cupping, Progressive calcification of costochondral cartilage, Proptosis, Recurrent pneumonia, Restrictive ventilatory defect, Scoliosis, Short long bone, Short metacarpal, Short nose, Short phalanx of finger, Short ribs, Spinal cord compression, Spondyloepimetaphyseal dysplasia, Syringomyelia, Thoracic hypoplasia, Tracheal calcification, Triangular shaped distal phalanges of the hand
U2	OLFML3	2.851920192	0	Extracellular matrix protein	BrainSpLMD|56944;Eurexp|euxassay_000583|Meckel's cartilage, calyces, chondrocranium, foregut-midgut junction, hindgut, incisor, midgut, molar, pelvis, skeleton, stomach	OMIM|610088
U2	CRISPLD2	2.845885911	0	Unclassified	BrainSpLMD|83716;Eurexp|euxassay_006369|bladder, midgut, oesophagus, rectum, stomach, submandibular gland primordium	OMIM|612434
U2	MGP	2.841019549	0	Extracellular matrix protein	BrainSpLMD|4256	OMIM|154870;HPO|4256|Autosomal recessive inheritance, Calcification of cartilage, Calcification of the auricular cartilage, Cartilaginous ossification of larynx, Cartilaginous ossification of nose, Cerebral calcification, Chronic sinusitis, Costal cartilage calcification, Deep philtrum, Depressed nasal bridge, Epiphyseal stippling, Global developmental delay, Growth abnormality, Hearing impairment, Intellectual disability, mild, Long face, Macrotia, Malar flattening, Midface retrusion, Nasal speech, Peripheral pulmonary artery stenosis, Premature fusion of phalangeal epiphyses, Pulmonary arterial hypertension, Pulmonary artery hypoplasia, Pulmonary artery stenosis, Pulmonic stenosis, Recurrent bronchitis, Recurrent otitis media, Recurrent sinusitis, Seizures, Short distal phalanx of finger, Short hallux, Short thumb, Sloping forehead, Spontaneous abortion, Tracheal atresia, Underdeveloped nasal alae, Ventricular septal defect, Wide nose
U2	BGN	2.836784235	0	Extracellular matrix protein	BrainSpLMD|633	OMIM|301870;HPO|633|Anterior wedging of T11, Anterior wedging of T12, Bifid uvula, Brachydactyly, Broad long bone diaphyses, Broad metacarpals, Broad phalanx, Cone-shaped epiphyses fused within their metaphyses, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped metacarpal epiphyses, Coxa valga, Delayed ossification of carpal bones, Disproportionate short-trunk short stature, Downslanted palpebral fissures, Flared iliac wings, Flat acetabular roof, Frontal bossing, Hypertelorism, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Joint hypermobility, Kyphosis, Limited elbow extension, Long fibula, Long ulna, Lumbar hyperlordosis, Malar flattening, Metaphyseal irregularity, Mitral regurgitation, Narrow pelvis bone, Pectus carinatum, Platyspondyly, Posterior rib cupping, Prominent styloid process of ulna, Proptosis, Radial deviation of the hand, Short clavicles, Short foot, Short long bone, Short metacarpal, Short palm, Short phalanx of finger, Spondyloepimetaphyseal dysplasia, X-linked inheritance, X-linked recessive inheritance
U2	C2orf40	2.819868791	0	Unclassified	BrainSpLMD|84417;Eurexp|euxassay_005368|4th ventricle, choroid plexus, clavicle, cranium, humerus, rib, scapula, trachea, ventricular layer	OMIM|611752
U2	ZIC1	2.813677455	0	Transcription factor	BrainSpLMD|7545;Eurexp|euxassay_010449|dorsal grey horn, mantle layer, marginal layer, meninges, neural retina, ventricular layer;BrainSpMouseDev|22528	OMIM|600470;HPO|7545|Agenesis of corpus callosum, Arnold-Chiari malformation, Autosomal dominant inheritance, Brachycephaly, Broad forehead, Cerebellar atrophy, Coronal craniosynostosis, Craniosynostosis, Facial asymmetry, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hypertelorism, Increased intracranial pressure, Intellectual disability, moderate, Intellectual disability, severe, Oxycephaly, Papilledema, Plagiocephaly, Proptosis, Sagittal craniosynostosis, Strabismus, Underdeveloped supraorbital ridges, Visual field defect
U2	EMP1	2.813247508	0	Cell cycle control protein	BrainSpLMD|2012	OMIM|602333
U2	COL5A1	2.805716819	0	Extracellular matrix protein	BrainSpLMD|1289;BrainSpMouseDev|12614	OMIM|120215;HPO|1289|Abnormality of oral frenula, Abnormality of the eyelashes, Aortic dilatation, Aortic dissection, Aortic root dilatation, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Arterial dissection, Arteriovenous fistulas of celiac and mesenteric vessels, Atrophic scars, Autosomal dominant inheritance, Bladder diverticulum, Blue sclerae, Bowel diverticulosis, Bruising susceptibility, Carious teeth, Cigarette-paper scars, Cognitive impairment, Congenital diaphragmatic hernia, Cryptorchidism, Dermal translucency, Ectopia lentis, Epicanthus, Femoral hernia, Flat face, Fragile skin, Gastroesophageal reflux, Gastrointestinal infarctions, Genu recurvatum, Glaucoma, Global developmental delay, Hallux valgus, Hyperextensibility at elbow, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Hyperextensible skin, Hypertelorism, Hypokalemia, Infantile muscular hypotonia, Inguinal hernia, Internal hemorrhage, Irregularly spaced teeth, Joint dislocation, Joint hyperflexibility, Lop ear, Macule, Melanocytic nevus, Mitral valve prolapse, Molluscoid pseudotumors, Myopia, Narrow maxilla, Osteoarthritis, Pectus carinatum, Pectus excavatum, Peripheral arteriovenous fistula, Pes planus, Pneumothorax, Poor wound healing, Premature birth, Premature birth following premature rupture of fetal membranes, Proptosis, Protruding ear, Respiratory insufficiency, Scoliosis, Short stature, Soft skin, Sprengel anomaly, Subcutaneous spheroids, Talipes equinovarus, Telangiectasia of the skin, Telecanthus, Thin skin, Thin vermilion border, Umbilical hernia, Varicose veins
U2	SRPX2	2.794525334	0	Secreted polypeptide	BrainSpLMD|27286;Eurexp|euxassay_004774|Meckel's cartilage, arm, clavicle, incisor, leg, lip, mandible, maxilla, midgut, orbito-sphenoid, peritoneal cavity, rib, stomach, tail, testis, tongue, vertebral axis muscle system	OMIM|300642;HPO|27286|Autosomal dominant inheritance, Focal seizures, Frontoparietal polymicrogyria, Intellectual disability, mild, Speech apraxia
U2	TK1	2.780815801	0	Enzyme: Phosphotransferase	BrainSpLMD|7083;Eurexp|euxassay_001974|thymus primordium	OMIM|188300
U2	DAB2	2.771212345	0	Adapter molecule	BrainSpLMD|1601	OMIM|601236
U2	ANLN	2.767208872	0	Structural protein	BrainSpLMD|54443;Eurexp|euxassay_004352|ventricular layer	OMIM|616027;HPO|54443|Autosomal dominant inheritance, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease
U2	ASPN	2.755445619	0	Extracellular matrix protein	BrainSpLMD|54829	OMIM|608135
U2	ANXA2	2.738613626	0	Calcium binding protein	BrainSpLMD|302;Eurexp|euxassay_013682|basal plate, mantle layer, ventral grey horn;BrainSpMouseDev|12091	OMIM|151740
U2	FBN1	2.721801293	0	Extracellular matrix protein	BrainSpLMD|2200	SFARI||Autism, 3 - Suggestive evidence;OMIM|134797;HPO|2200|Abnormal cardiac ventricle morphology, Abnormal echocardiogram, Abnormality of dental morphology, Abnormality of the eyebrow, Abnormality of the iris, Abnormality of the sternum, Adducted thumb, Anteverted nares, Aortic dilatation, Aortic dissection, Aortic regurgitation, Aortic root dilatation, Aortic valve stenosis, Arachnodactyly, Ascending aortic dilation, Ascending aortic dissection, Autosomal dominant inheritance, Blindness, Blue sclerae, Brachycephaly, Brachydactyly, Broad metacarpals, Broad metatarsal, Broad palm, Broad phalanges of the hand, Broad ribs, Broad skull, Bruising susceptibility, Bulbous nose, Cardiomegaly, Cataract, Chest pain, Cognitive impairment, Cone-shaped epiphysis, Congestive heart failure, Coronary artery disease, Craniosynostosis, Crumpled ear, Cutis laxa, Cutis marmorata, Cystic medial necrosis of the aorta, Decreased muscle mass, Decreased nerve conduction velocity, Decreased testicular size, Deep philtrum, Deeply set eye, Delayed skeletal maturation, Dental crowding, Depressed nasal bridge, Descending aortic dissection, Dilatation of ascending aorta, Disproportionate tall stature, Dolichocephaly, Downslanted palpebral fissures, Dural ectasia, Ectopia lentis, Emphysema, Enlarged thorax, Exertional dyspnea, Feeding difficulties, Fifth metacarpal with ulnar notch, Flexion contracture, Full cheeks, Genu recurvatum, Glaucoma, Hammertoe, Heart murmur, Hepatomegaly, High palate, High, narrow palate, Hoarse voice, Hyperextensibility of the finger joints, Hypertelorism, Hypertension, Hypoplasia of the iris, Hypoplasia of the maxilla, Hyporeflexia, Hypoxemia, Incisional hernia, Increased arm span, Increased axial globe length, Intellectual disability, mild, Intrauterine growth retardation, Iridodonesis, Joint hypermobility, Joint stiffness, Kyphoscoliosis, Lack of skin elasticity, Left ventricular failure, Limitation of joint mobility, Lipoatrophy, Long eyelashes, Long face, Long philtrum, Long toe, Low-set ears, Lumbar hyperlordosis, Macrocephaly, Malar flattening, Mandibular prognathia, Medial rotation of the medial malleolus, Megalocornea, Micrognathia, Microspherophakia, Misalignment of teeth, Mitral annular calcification, Mitral regurgitation, Mitral stenosis, Mitral valve prolapse, Motor delay, Muscular hypotonia, Myopia, Narrow face, Narrow mouth, Narrow nose, Narrow palate, Neonatal respiratory distress, Oligohydramnios, Ovoid vertebral bodies, Paroxysmal dyspnea, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pes cavus, Pes planus, Pes valgus, Pneumothorax, Premature birth, Premature osteoarthritis, Prominent forehead, Prominent nasal bridge, Proportionate short stature, Proptosis, Protrusio acetabuli, Pulmonary arterial hypertension, Pulmonary artery dilatation, Pulmonic stenosis, Reduced subcutaneous adipose tissue, Respiratory insufficiency, Retinal detachment, Retrognathia, Round face, Scaphocephaly, Scoliosis, Severe Myopia, Severe short stature, Shallow anterior chamber, Shallow orbits, Short foot, Short long bone, Short metacarpal, Short nose, Short palm, Short phalanx of finger, Short stature, Short thumb, Small for gestational age, Small hand, Smooth philtrum, Spinal canal stenosis, Spondylolisthesis, Stiff skin, Striae distensae, Talipes calcaneovarus, Tall stature, Thick lower lip vermilion, Thickened skin, Thin bony cortex, Thin upper lip vermilion, Toe walking, Tricuspid regurgitation, Tricuspid valve prolapse, Ventricular septal defect, Wide nasal bridge
U2	EMP3	2.677691655	0	Integral membrane protein	BrainSpLMD|2014;Eurexp|euxassay_008825|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, mandible, maxilla, meninges, metatarsus, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, tibia, turbinate bones, ulna, vault of skull	OMIM|602335
U2	DIAPH3	2.670389175	0	Unclassified	BrainSpLMD|81624;Eurexp|euxassay_012699|incisor, molar, pituitary, submandibular gland primordium, ventricular layer, vibrissa	SFARI||Autism, 5 - Hypothesized but untested;OMIM|614567;HPO|81624|Abnormal auditory evoked potentials, Abnormal speech discrimination, Absence of acoustic reflex, Autosomal dominant inheritance, Sensorineural hearing impairment
U2	MFAP2	2.66957289	0	Extracellular matrix protein	BrainSpLMD|4237;Eurexp|euxassay_002967|skeleton	OMIM|156790
U2	CCDC80	2.660082195	0	Unclassified	BrainSpLMD|151887	OMIM|608298
U2	AHNAK	2.650042631	0	Unclassified	BrainSpLMD|79026	OMIM|103390
U2	GLT8D2	2.632443665	0	Enzyme: Transferase	BrainSpLMD|83468	
U2	ANXA2P2	2.6249172	0		BrainSpLMD|304	
U2	BICC1	2.593315624	0	RNA binding protein	BrainSpLMD|80114	OMIM|614295
U2	FSTL1	2.591400592	0	Protease inhibitor	Eurexp|euxassay_003685|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail;BrainSpMouseDev|14090	OMIM|605547
U2	DEPDC1	2.576296587	0	Unclassified	BrainSpLMD|55635	OMIM|612002
U2	MSX1	2.568353979	0	Transcription regulatory protein	BrainSpLMD|4487;BrainSpMouseDev|17468	OMIM|142983;HPO|4487|Agenesis of permanent teeth, Autosomal dominant inheritance, Cleft palate, Cleft upper lip, Concave nail, Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Fine hair, Fragile nails, Hypodontia, Hypoplasia of the maxilla, Hypoplastic fingernail, Hypoplastic toenails, Microdontia, Microdontia of primary teeth, Micrognathia, Nail pits, Oligodontia, Ridged fingernail, Ridged nail, Small nail, Sparse hair, Thin toenail
U2	S100A10	2.557602256	0	Calcium binding protein	BrainSpLMD|6281;Eurexp|euxassay_018301|bladder, cranium, diaphragm, dorsal root ganglion, epidermis, facial VII, glossopharyngeal IX, incisor, lip, mandible, mantle layer, meninges, metanephros, midgut, molar, neural retina, oesophagus, palatal shelf, pectoral girdle and thoracic body wall, rib, roof plate, stomach, submandibular gland primordium, thymus primordium, trigeminal V, turbinate bones, vagus X, ventral grey horn, vertebral axis muscle system, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|19957	OMIM|114085
U2	ZWINT	2.557170538	0	Cell cycle control protein	BrainSpLMD|11130;Eurexp|euxassay_009942|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, valve, vestibulocochlear VIII	OMIM|609177
U2	C1QTNF2	2.549087371	0	Unclassified	BrainSpLMD|114898;Eurexp|euxassay_011625|axial skeleton, basioccipital bone, basisphenoid bone, bladder, clavicle, exoccipital bone, foramen ovale, mandible, maxilla, nasal septum, oesophagus, orbito-sphenoid, otic capsule, rib, temporal bone, turbinate, vault of skull	
U2	COL27A1	2.541098656	0	Extracellular matrix protein	BrainSpLMD|85301;Eurexp|euxassay_016233|Meckel's cartilage, axial skeleton, clavicle, cricoid, exoccipital bone, femur, fibula, hyoid bone, lung, mesenchyme, metatarsus, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, rib, sternum, temporal bone, thyroid, tibia, trachea, turbinate, vibrissa	OMIM|608461;HPO|85301|Autosomal recessive inheritance, Dislocated radial head, Hypertelorism, Prominent forehead, Scoliosis, Short stature, Wide nasal bridge
U2	CDK1	2.533239507	0	Serine/threonine kinase	BrainSpLMD|983	OMIM|116940
U2	SNAI2	2.525840743	0	Transcription factor	BrainSpLMD|6591;Eurexp|euxassay_018890|excretory component, hindgut, loop, midgut, rectum, stomach	OMIM|602150;HPO|6591|Abnormality of the ear, Absent pigmentation of the ventral chest, Aganglionic megacolon, Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital sensorineural hearing impairment, Heterochromia iridis, Heterogeneous, Hypopigmented skin patches, Macule, Neoplasm, Partial albinism, Piebaldism, Premature graying of hair, Sensorineural hearing impairment, Telecanthus, White eyebrow, White eyelashes, White forelock
U2	PMP22	2.51934385	0	Integral membrane protein	BrainSpLMD|5376	OMIM|601097;HPO|5376|Abnormality of the immune system, Acute demyelinating polyneuropathy, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Childhood onset, Cold-induced muscle cramps, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Gait ataxia, Gait disturbance, Generalized hypotonia, Hammertoe, Hearing impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Increased CSF protein, Infantile onset, Insidious onset, Juvenile onset, Kyphoscoliosis, Motor delay, Muscle weakness, Myelin outfoldings, Onion bulb formation, Paresthesia, Pes cavus, Scoliosis, Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Sensory ataxia, Slow progression, Split hand, Steppage gait, Talipes calcaneovalgus, Ulnar claw, Upper limb postural tremor, Variable expressivity, Vocal cord paralysis
U2	ATL3	2.519261152	0	Unclassified	BrainSpLMD|25923;Eurexp|euxassay_001705|orbito-sphenoid, ventricular layer	OMIM|609369;HPO|25923|Autosomal dominant inheritance, Hallux valgus, Hyperkeratosis, Hyporeflexia of lower limbs, Osteolytic defects of the phalanges of the hand, Osteomyelitis, Sensory axonal neuropathy
U2	CTSK	2.510543577	0	Cysteine protease	BrainSpLMD|1513	OMIM|601105;HPO|1513|Abnormal pelvis bone ossification, Abnormal vertebral morphology, Abnormality of dental morphology, Abnormality of epiphysis morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the fingernails, Abnormality of the thorax, Absent frontal sinuses, Autosomal recessive inheritance, Blue sclerae, Bone pain, Brachycephaly, Brachydactyly, Carious teeth, Delayed eruption of permanent teeth, Delayed eruption of primary teeth, Delayed eruption of teeth, Frontal bossing, High forehead, Hypodontia, Increased bone mineral density, Malar flattening, Micrognathia, Midface retrusion, Narrow palate, Osteolysis, Osteolytic defects of the distal phalanges of the hand, Persistence of primary teeth, Persistent open anterior fontanelle, Prominent nose, Prominent occiput, Proptosis, Recurrent fractures, Ridged nail, Scoliosis, Short distal phalanx of finger, Short stature, Short toe, Skeletal dysplasia, Spondylolisthesis, Spondylolysis, Wormian bones
U2	SERPINF1	2.500984737	0	Serine protease	BrainSpLMD|5176;Eurexp|euxassay_018445|cardiovascular system, gland, integumental system, limb, liver and biliary system, meninges, mesenchyme, reproductive system, skeleton, tail, vertebral axis muscle system, visceral organ	OMIM|172860;HPO|5176|Autosomal recessive inheritance, Beaking of vertebral bodies, Biconcave vertebral bodies, Coxa vara, Increased susceptibility to fractures, Joint laxity, Protrusio acetabuli, Vertebral compression fractures
U2	S100A11	2.494922415	0	Calcium binding protein	BrainSpLMD|6282	OMIM|603114
U2	MFAP4	2.462708139	0	Extracellular matrix protein	BrainSpLMD|4239;BrainSpMouseDev|52134	OMIM|600596
U2	CRABP1	2.452991779	0	Transport/cargo protein	BrainSpLMD|1381	OMIM|180230
U2	TUBB6	2.448476908	0	Cytoskeletal protein	BrainSpLMD|84617;Eurexp|euxassay_015347|cervical, cervico-thoracic, cochlear component, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, inferior, medulla oblongata, metencephalon, midbrain, neural retina, nucleus pulposus, olfactory, spinal cord, stroma, superior, telencephalon, thoracic, tongue, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII	OMIM|615103
U2	COLEC12	2.443430576	0	Cell surface receptor	BrainSpLMD|81035;Eurexp|euxassay_010114|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, left lung, meninges, mesenchyme, mesentery, mesothelium, midgut, naris, oesophagus, orbito-sphenoid, otic capsule, pelvic girdle, peritoneal cavity, petrous part, rib, right lung, scapula, sternum, stomach, tibia, trachea, turbinate bones, vault of skull	OMIM|607621
U2	SGOL2	2.435723113	0			
U2	CRABP2	2.429536599	0	Transcription regulatory protein	BrainSpLMD|1382;Eurexp|euxassay_004796|arm, axial skeleton, cornea, diaphragm, dorsal root ganglion, epithelium, footplate, handplate, incisor, leg, lip, mantle layer, meninges, mesenchyme, metanephros, molar, neural retina, olfactory, penis, pituitary, retina, saccule, thymus primordium, trigeminal V, ventral grey horn, vertebral axis muscle system, vibrissa	OMIM|180231
U2	CENPK	2.419492834	0	Unclassified	BrainSpLMD|64105	OMIM|611502
U2	CREB3L1	2.418680435	0	Transcription regulatory protein	BrainSpLMD|90993;Eurexp|euxassay_010439|clavicle, femur, fibula, frontal bone primordium, hip, humerus, mandible, maxilla, orbito-sphenoid, rectum, rib, scapula, stomach, tibia, wall;BrainSpMouseDev|26175	OMIM|616215;COSMIC||myxofibrosarcoma
U2	ARHGAP28	2.412798595	0	Unclassified;GTPase activating protein	BrainSpLMD|79822	OMIM|610592
U2	FAM114A1	2.407747241	0	Unclassified	BrainSpLMD|92689;Eurexp|euxassay_002429|Meckel's cartilage, cranium	
U2	RGS3	2.392281983	0	GTPase activating protein	BrainSpLMD|5998	OMIM|602189
U2	PLOD1	2.373625611	0	Enzyme: Hydroxylase	BrainSpLMD|5351;Eurexp|euxassay_002758|axial skeleton, brain, clavicle, femur, humerus, intervertebral disc, lumbar region, mesenchyme, nasal septum, otic capsule, rib, sacral region, skeleton, thoracic region, trachea, turbinate bones, ventricular layer, vertebral cartilage condensation	OMIM|153454;HPO|5351|Abnormality of metabolism/homeostasis, Abnormality of the hip bone, Aortic dissection, Arachnodactyly, Arterial dissection, Arterial rupture, Atypical scarring of skin, Autosomal recessive inheritance, Bladder diverticulum, Blindness, Blue sclerae, Bruising susceptibility, Congestive heart failure, Decreased fetal movement, Decreased pulmonary function, Dental crowding, Depressed nasal bridge, Disproportionate tall stature, Epicanthus, Gait disturbance, Gastrointestinal hemorrhage, Generalized hypotonia, Generalized joint laxity, Glaucoma, Hyperextensible skin, Inguinal hernia, Joint dislocation, Joint hyperflexibility, Joint laxity, Keratoconus, Kyphosis, Microcornea, Mitral valve prolapse, Molluscoid pseudotumors, Motor delay, Myopia, Neonatal hypotonia, Osteoporosis, Palmoplantar cutis laxa, Pes planus, Premature rupture of membranes, Progressive congenital scoliosis, Recurrent pneumonia, Respiratory insufficiency, Retinal detachment, Retinopathy, Scoliosis, Soft skin, Spontaneous rupture of the globe, Subcutaneous hemorrhage, Talipes equinovarus, Tall stature, Thin skin, Visual impairment
U2	NID1	2.368160437	0	Extracellular matrix protein	BrainSpLMD|4811;Eurexp|euxassay_009707|cervical region, diaphragm, dorsal grey horn, extrinsic ocular muscle, lens, maxillary division, meninges, turbinate bones, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|131390
U2	TIMP1	2.366072835	0	Extracellular matrix protein	BrainSpLMD|7076;Eurexp|euxassay_000782|Meckel's cartilage, axial skeleton, chondrocranium, molar	OMIM|305370
U2	S100A6	2.365330582	0	Calcium binding protein	BrainSpLMD|6277	OMIM|114110
U2	TWIST1	2.354035008	0	Transcription factor	BrainSpLMD|7291;Eurexp|euxassay_005335|valve;BrainSpMouseDev|21917	OMIM|601622;HPO|7291|Abnormal heart morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the nasolacrimal system, Absent first metatarsal, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharospasm, Brachycephaly, Brachydactyly, Breast carcinoma, Broad forehead, Broad hallux, Buphthalmos, Cleft of chin, Cleft palate, Clinodactyly of the 5th finger, Convex nasal ridge, Coronal craniosynostosis, Craniosynostosis, Delayed cranial suture closure, Depressed nasal bridge, Dolichocephaly, Duplication of phalanx of hallux, External ear malformation, Facial asymmetry, Finger syndactyly, Flat face, Flat forehead, Frontal bossing, Hallux valgus, Hearing impairment, High forehead, Hyperlordosis, Hypertelorism, Hypoplasia of the maxilla, Increased intracranial pressure, Intellectual disability, moderate, Lambdoidal craniosynostosis, Long nose, Low anterior hairline, Low-set ears, Malar flattening, Microtia, Narrow internal auditory canal, Narrow nose, Narrow palate, Open bite, Oxycephaly, Parietal foramina, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of the distal phalanx of the 3rd finger, Plagiocephaly, Prominent crus of helix, Prominent nasal bridge, Proptosis, Ptosis, Radioulnar synostosis, Scaphocephaly, Shallow orbits, Short stature, Skull asymmetry, Strabismus, Toe syndactyly, Turricephaly, Underdeveloped supraorbital ridges, Variable expressivity, Visual field defect
U2	OLFML1	2.349441186	0	Unclassified	BrainSpLMD|283298	
U2	IGF2	2.348018115	0	Growth factor;Ligand	BrainSpLMD|3481;Eurexp|euxassay_007184|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, heart, lung, metanephros, midgut, neural retina, olfactory, respiratory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|15775	OMIM|147470;HPO|3481|Abnormality of the cardiovascular system, Abnormality of the dentition, Abnormality of the foot, Abnormality of the ureter, Accelerated skeletal maturation, Adrenocortical carcinoma, Adrenocortical cytomegaly, Asymmetry of the thorax, Autosomal dominant inheritance, Blue sclerae, Cafe-au-lait spot, Cardiomegaly, Cardiomyopathy, Clinodactyly of the 5th finger, Coarse facial features, Congenital posterior urethral valve, Craniofacial disproportion, Craniopharyngioma, Cryptorchidism, Dandy-Walker malformation, Decreased body weight, Delayed cranial suture closure, Delayed skeletal maturation, Diastasis recti, Downturned corners of mouth, Enlarged kidney, Facial asymmetry, Fasting hypoglycemia, Feeding difficulties in infancy, Frontal bossing, Generalized hypotonia, Global developmental delay, Gonadoblastoma, Growth hormone deficiency, Hemihypertrophy, Hepatoblastoma, Hepatocellular carcinoma, Hepatomegaly, Heterogeneous, Hypospadias, Intellectual disability, mild, Intrauterine growth retardation, Large fontanelles, Low-set ears, Macroglossia, Melanocytic nevus, Micrognathia, Midface retrusion, Motor delay, Neonatal hypoglycemia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Omphalocele, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Posterior helix pit, Prominent forehead, Prominent metopic ridge, Prominent occiput, Proptosis, Relative macrocephaly, Renal cortical cysts, Scoliosis, Short distal phalanx of the 5th finger, Short middle phalanx of the 5th finger, Short stature, Small for gestational age, Somatic mutation, Sporadic, Syndactyly, Testicular seminoma, Triangular face, Vesicoureteral reflux, X-linked recessive inheritance
U2	SEC24D	2.344324607	0	Transport/cargo protein	BrainSpLMD|9871;Eurexp|euxassay_010979|marginal layer	OMIM|607186;HPO|9871|Abnormal form of the vertebral bodies, Abnormality of dental enamel, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the voice, Autosomal recessive inheritance, Blue sclerae, Bowing of the long bones, Communicating hydrocephalus, Coronal craniosynostosis, Crumpled long bones, Delayed eruption of teeth, Downslanted palpebral fissures, Frontal bossing, High palate, High pitched voice, Hydrocephalus, Hypertelorism, Intrauterine growth retardation, Kyphosis, Lambdoidal craniosynostosis, Macrocephaly, Micrognathia, Microretrognathia, Midface retrusion, Muscular hypotonia, Oligohydramnios, Osteopenia, Pectus excavatum, Platyspondyly, Postnatal growth retardation, Proptosis, Recurrent fractures, Scoliosis, Short stature, Skeletal dysplasia, Thin ribs, Triangular face, Turricephaly, Wormian bones
U2	BUB1B	2.340525302	0	Serine/threonine kinase	BrainSpLMD|701;Eurexp|euxassay_018755|cortex, ear, hindgut, incisor, lobe, lung, mandible, marginal layer, maxilla, midgut, molar, neural retina, oesophagus, olfactory, orbito-sphenoid, pancreas, rectum, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, trachea, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ, wall	OMIM|602860;COSMIC||rhabdomyosarcoma;HPO|701|Abnormality of vision, Agenesis of corpus callosum, Ambiguous genitalia, Anteverted nares, Ascites, Autosomal recessive inheritance, Bifid scrotum, Brachycephaly, Cataract, Cerebellar hypoplasia, Cerebral hypoplasia, Cleft palate, Combined immunodeficiency, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Epicanthus, Feeding difficulties in infancy, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Glaucoma, Global developmental delay, Hereditary nonpolyposis colorectal carcinoma, High forehead, Hydrocephalus, Hypertelorism, Hypodysplasia of the corpus callosum, Hypospadias, Increased nuchal translucency, Intellectual disability, Intellectual disability, profound, Intrauterine growth retardation, Leukemia, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Muscular dystrophy, Neoplasm of the stomach, Nephroblastoma, Nystagmus, Oligohydramnios, Phenotypic variability, Polyhydramnios, Posteriorly rotated ears, Postnatal growth retardation, Premature chromatid separation, Renal cell carcinoma, Renal cyst, Rhabdomyosarcoma, Severe global developmental delay, Short neck, Short nose, Short stature, Short sternum, Small for gestational age, Transitional cell carcinoma of the bladder, Triangular face, Triangular mouth, Upslanted palpebral fissure, Uterine leiomyosarcoma, Ventriculomegaly, Wide nose
U2	CALU	2.326744732	0	Calcium binding protein	BrainSpLMD|813	OMIM|603420
U2	KIF23	2.286612931	0	Motor protein	BrainSpLMD|9493;Eurexp|euxassay_006188|incisor, lung, mantle layer, marginal layer, olfactory, submandibular gland primordium, thymus primordium, thyroid, ventricular layer	OMIM|605064;HPO|9493|Abnormal cellular phenotype, Abnormal proerythroblast morphology, Anemia, Anisocytosis, Fatigue, Hyperbilirubinemia, Increased mean corpuscular volume, Increased serum iron, Increased total iron binding capacity, Poikilocytosis
U2	MMP2	2.283570834	0	Metallo protease	BrainSpLMD|4313	OMIM|120360;HPO|4313|Abnormality of the ear, Abnormality of the thorax, Ankle contracture, Ankylosis of feet small joints, Antinuclear antibody positivity, Arthralgia, Autosomal recessive inheritance, Brachycephaly, Broad metatarsal, Bulbous nose, C1-C2 subluxation, Camptodactyly of toe, Carpal osteolysis, Coarse facial features, Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Distal tapering of metatarsals, Frontal bossing, Gait disturbance, Gingival overgrowth, Hip contracture, Hirsutism, Hypermelanotic macule, Hypertelorism, Hypoplasia of the maxilla, Infantile onset, Interphalangeal joint contracture of finger, Interphalangeal joint erosions, Juvenile onset, Kyphoscoliosis, Metacarpal osteolysis, Metaphyseal widening, Metatarsal osteolysis, Micrognathia, Narrow nasal bridge, Osteolysis involving tarsal bones, Osteopenia, Osteoporosis, Peripheral opacification of the cornea, Pes cavus, Pes planus, Proptosis, Protrusio acetabuli, Sclerotic cranial sutures, Short stature, Split hand, Subcutaneous nodule, Thickened skin, Thin metacarpal cortices, Thin metatarsal cortices, Vertebral compression fractures, Widened metacarpal shaft, Wrist flexion contracture
U2	BIRC5	2.277777562	0	Adapter molecule	BrainSpLMD|332	OMIM|603352
U2	ID3	2.271565861	0	Transcription regulatory protein	BrainSpLMD|3399;BrainSpMouseDev|15676	OMIM|600277;COSMIC||Burkitt lymphoma
U2	CD99	2.266300155	0	Unclassified		OMIM|450000
U2	ELN	2.260720135	0	Extracellular matrix protein	BrainSpLMD|2006;Eurexp|euxassay_004329|aorta, exoccipital bone, extrinsic ocular muscle, femur, fibula, humerus, lip, lung, mandible, maxillary division, mesenchyme, nasal septum, orbito-sphenoid, palatal shelf, pelvic girdle, physiological umbilical hernia, rest of mesencyme, rib, scapula, skeletal muscle, tibia, trachea, turbinate bones, valve, vault of skull, ventricular layer, vibrissa	OMIM|130160;COSMIC||B-ALL, Supravalvular Aortic Stenosis, Cutis laxa, Williams-Beuren Syndrome;HPO|2006|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the face, Abnormality of the fingernails, Abnormality of the iris, Abnormality of the neck, Anxiety, Aortic regurgitation, Arrhythmia, Arthralgia, Ascending aortic dissection, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bicuspid aortic valve, Bladder diverticulum, Blepharophimosis, Blue irides, Bowel diverticulosis, Broad forehead, Broad nasal tip, Cardiomegaly, Cerebral ischemia, Chest pain, Chronic constipation, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Coronary artery disease, Coronary artery stenosis, Cutis laxa, Cutis marmorata, Cystic medial necrosis of the aorta, Dental malocclusion, Depressed nasal bridge, Depressivity, Descending aortic dissection, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Emphysema, Enuresis, Epicanthus, Everted lower lip vermilion, Exertional dyspnea, Failure to thrive in infancy, Feeding difficulties in infancy, Flexion contracture, Full cheeks, Gait imbalance, Gastroesophageal reflux, Generalized hypotonia, Genu valgum, Glucose intolerance, Hallux valgus, Heterogeneous, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypertelorism, Hypertension, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Impaired visuospatial constructive cognition, Incoordination, Inguinal hernia, Insomnia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Joint stiffness, Kyphoscoliosis, Kyphosis, Large earlobe, Left ventricular failure, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Medial flaring of the eyebrow, Microcephaly, Microdontia, Micrognathia, Midface retrusion, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Narrow forehead, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Obsessive-compulsive trait, Open bite, Open mouth, Osteopenia, Osteoporosis, Overfriendliness, Paroxysmal dyspnea, Pelvic kidney, Periorbital edema, Periorbital fullness, Peripheral arterial stenosis, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Poor coordination, Premature graying of hair, Premature skin wrinkling, Prematurely aged appearance, Proteinuria, Protruding ear, Pulmonary artery stenosis, Pulmonic stenosis, Rectal prolapse, Recurrent otitis media, Recurrent urinary tract infections, Redundant skin, Renal hypoplasia, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Small nail, Soft skin, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Urethral stenosis, Vesicoureteral reflux, Visual impairment, Wide mouth, Wide nasal bridge
U2	KLF4	2.250776342	0	Transcription regulatory protein	BrainSpLMD|9314;Eurexp|euxassay_005264|arm, bladder, clavicle, cranium, extraembryonic component, femur, fibula, footplate, forelimb, handplate, hindlimb, lower leg, mandible, maxilla, molar, oesophagus, orbito-sphenoid, palatal shelf, penis, rest of mesenchyme, rib, tibia, vertebral axis muscle system, vibrissa;BrainSpMouseDev|16373	OMIM|602253;COSMIC||meningioma
U2	IL11RA	2.229492347	0	Cytokine receptor	BrainSpLMD|3590;Eurexp|euxassay_004461|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, liver and biliary system, nervous system, renal/urinary system, reproductive system, respiratory system, skeleton, tail, vertebral axis muscle system, visceral organ	OMIM|600939;HPO|3590|Autosomal recessive inheritance, Coronal craniosynostosis, Delayed eruption of teeth, Hypoplasia of the maxilla, Papilledema, Sagittal craniosynostosis
U2	FLNB	2.201954154	0	Cytoskeletal associated protein	BrainSpLMD|2317;Eurexp|euxassay_014002|axial skeleton, clavicle, exoccipital bone, incisor, mandible, maxilla, mesenchyme, metatarsus, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, palatal shelf, phalanx, sternum, submandibular gland primordium, temporal bone, thymus primordium, thyroid, trachea, turbinate, ventricular layer, vibrissa	OMIM|603381;HPO|2317|11 pairs of ribs, Abnormality of femur morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the humerus, Abnormality of the metacarpal bones, Abnormality of the radius, Abnormality of tibia morphology, Absent radius, Accessory carpal bones, Aortic dilatation, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the ulna, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Beaking of vertebral bodies, Bipartite calcaneus, Block vertebrae, Brachydactyly, Broad distal phalanx of finger, Broad face, Broad nasal tip, Broad thumb, Bronchomalacia, C2-C3 subluxation, Carpal synostosis, Cataract, Cervical kyphosis, Cervical segmentation defect, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Club-shaped proximal femur, Clubbing, Conductive hearing impairment, Corneal opacity, Coronal cleft vertebrae, Cryptorchidism, Delayed skeletal maturation, Depressed nasal bridge, Dislocated wrist, Disproportionate short-trunk short stature, Distal tapering femur, Elbow dislocation, Encephalocele, Epiphyseal dysplasia, Fibular aplasia, Finger syndactyly, Flat acetabular roof, Flat face, Frontal bossing, Fused cervical vertebrae, Growth hormone deficiency, Hip dislocation, Hitchhiker thumb, Horizontal sacrum, Hydrops fetalis, Hyperlordosis, Hypertelorism, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Hypoplastic cervical vertebrae, Hypoplastic iliac body, Hypoplastic nasal septum, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Knee dislocation, Large joint dislocations, Laryngeal stenosis, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Mixed hearing impairment, Multinucleated giant chondrocytes in epiphyseal cartilage, Multiple carpal ossification centers, Narrow chest, Neonatal death, Omphalocele, Pectus carinatum, Pectus excavatum, Pes planus, Polyhydramnios, Poorly ossified vertebrae, Preauricular skin tag, Premature birth, Prominent forehead, Prominent occiput, Proptosis, Radial bowing, Rarefaction of retinal pigmentation, Renal cyst, Restrictive ventilatory defect, Rhizomelia, Sandal gap, Scoliosis, Severe short stature, Severe short-limb dwarfism, Shallow orbits, Short distal phalanx of finger, Short femur, Short humerus, Short metacarpal, Short metatarsal, Short nail, Short neck, Short nose, Short stature, Spatulate thumbs, Spina bifida occulta, Spinal cord compression, Spondylolysis, Sporadic, Stillbirth, Talipes equinovalgus, Talipes equinovarus, Tarsal synostosis, Thoracic platyspondyly, Tibial bowing, Tombstone-shaped proximal phalanges, Tracheal stenosis, Tracheomalacia, Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Widened distal phalanges
U2	LAMA4	2.199836493	0	Adhesion molecule	BrainSpLMD|3910;Eurexp|euxassay_013553|lip, nasal cavity	OMIM|600133;HPO|3910|Autosomal dominant inheritance, Dilated cardiomyopathy
U2	AURKB	2.190226552	0	Serine/threonine kinase	BrainSpLMD|9212	OMIM|604970
U2	NDC80	2.184202284	0	Cell cycle control protein	BrainSpLMD|10403;Eurexp|euxassay_006923|embryo	OMIM|607272
U2	P4HB	2.184156761	0	Enzyme: Isomerase		OMIM|176790;HPO|5034|Abnormal form of the vertebral bodies, Abnormality of dental enamel, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the voice, Autosomal dominant inheritance, Blue sclerae, Bowing of the long bones, Communicating hydrocephalus, Coronal craniosynostosis, Crumpled long bones, Delayed eruption of teeth, Frontal bossing, High pitched voice, Intrauterine growth retardation, Kyphosis, Microdontia, Micrognathia, Midface retrusion, Muscular hypotonia, Orbital craniosynostosis, Osteopenia, Proptosis, Recurrent fractures, Scoliosis, Shallow orbits, Short stature, Skeletal dysplasia, Turricephaly, Vertebral compression fractures, Wormian bones
U2	UBE2C	2.172389373	0	Ubiquitin proteasome system protein	BrainSpLMD|11065	OMIM|605574
U2	H19	2.16679847	0			OMIM|103280;HPO|283120|Abdominal pain, Abnormality of the cardiovascular system, Abnormality of the dentition, Abnormality of the foot, Abnormality of the ureter, Accelerated skeletal maturation, Adrenocortical carcinoma, Adrenocortical cytomegaly, Asymmetry of the thorax, Autosomal dominant inheritance, Blue sclerae, Cafe-au-lait spot, Cardiomegaly, Cardiomyopathy, Clinodactyly of the 5th finger, Coarse facial features, Congenital posterior urethral valve, Craniofacial disproportion, Craniopharyngioma, Cryptorchidism, Dandy-Walker malformation, Delayed cranial suture closure, Delayed skeletal maturation, Diastasis recti, Downturned corners of mouth, Enlarged kidney, Facial asymmetry, Fasting hypoglycemia, Frontal bossing, Global developmental delay, Gonadoblastoma, Growth hormone deficiency, Hemihypertrophy, Hepatoblastoma, Hepatocellular carcinoma, Hepatomegaly, Heterogeneous, Hypospadias, Intellectual disability, mild, Intrauterine growth retardation, Large fontanelles, Macroglossia, Micrognathia, Midface retrusion, Neonatal hypoglycemia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Omphalocele, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Posterior helix pit, Prominent metopic ridge, Prominent occiput, Proptosis, Renal cortical cysts, Scoliosis, Short distal phalanx of the 5th finger, Short middle phalanx of the 5th finger, Small for gestational age, Somatic mutation, Sporadic, Syndactyly, Testicular seminoma, Triangular face, Vesicoureteral reflux
U2	PCDH18	2.16003972	0	Adhesion molecule	BrainSpLMD|54510;BrainSpMouseDev|49014	OMIM|608287
U2	PTRF	2.144966647	0			
U2	SKA3	2.143282488	0	Unclassified	BrainSpLMD|221150;Eurexp|euxassay_011780|brain, choroid invagination, left lung, mantle layer, right lung, ventricle, vertebral axis muscle system	
U2	HMMR	2.130351233	0	Cell surface receptor	BrainSpLMD|3161	OMIM|600936
U2	CENPE	2.128300025	0	DNA binding protein	BrainSpLMD|1062	OMIM|117143;HPO|1062|Abnormality of dental enamel, Absent earlobe, Autosomal recessive inheritance, Cachexia, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Hip dysplasia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Metaphyseal sclerosis, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Partial agenesis of the corpus callosum, Prematurely aged appearance, Prominent nose, Reduced number of teeth, Round face, Sandal gap, Seizures, Short foot, Short stature, Sloping forehead, Small hand, Sparse scalp hair
U2	CDCA8	2.113354682	0	Cell cycle control protein	BrainSpLMD|55143	OMIM|609977
U2	TNS3	2.087505324	0	Integral membrane protein;Cell surface receptor	BrainSpLMD|64759;Eurexp|euxassay_014013|axial skeleton, ductus deferens, exoccipital bone, mandible, maxilla, mesenchyme, nasal septum, orbito-sphenoid, spleen primordium, trachea, turbinate, vibrissa	OMIM|606825
U2	DLC1	2.081304632	0	GTPase activating protein	BrainSpLMD|10395;Eurexp|euxassay_013403|axial skeleton, mandible, mantle layer, roof plate, trigeminal V, ventricular layer	OMIM|604258;HPO|10395|Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma
U2	SPAG5	2.079291036	0	Cytoskeletal associated protein	BrainSpLMD|10615	OMIM|615562
U2	KIF2C	2.071589722	0	Motor protein	BrainSpLMD|11004;Eurexp|euxassay_003601|4th ventricle, bladder, forebrain, hindbrain, hindlimb, incisor, limb, liver, lung, metanephros, midbrain, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pancreas, penis, pharyngo-tympanic tube, respiratory, retina, spinal cord, submandibular gland primordium, testis, thymus primordium, thyroid, tongue, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|604538
U2	ANXA5	2.068961675	0	Calcium binding protein	BrainSpLMD|308;Eurexp|euxassay_002158|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, meninges, renal/urinary system, reproductive system, respiratory system, tail	OMIM|131230
U2	SPC24	2.068355724	0	Cell cycle control protein	BrainSpLMD|147841;Eurexp|euxassay_006353|ventricular layer	OMIM|609394
U2	IQGAP3	2.057182284	0	GTPase activating protein	BrainSpLMD|128239	SFARI||Autism, 4 - Minimal evidence
U2	SDC1	2.054460472	0	Cell surface receptor	BrainSpLMD|6382;Eurexp|euxassay_003549|lung, stomach, vibrissa	OMIM|186355
U2	CNN2	2.038778314	0	Cytoskeletal associated protein	BrainSpLMD|1265	OMIM|602373
U2	TPBG	2.037638904	0	Integral membrane protein	BrainSpLMD|7162;Eurexp|euxassay_000218|cortex, drainage component, floorplate, fundus region, lateral wall, mantle layer, pelvis, pineal primordium, roof plate, thalamus, ureter, ventricular layer	OMIM|190920
U2	SERTAD1	2.025553203	0	Cell cycle control protein	BrainSpLMD|29950	
U2	ZNF521	2.015215473	0	Transcription regulatory protein	BrainSpLMD|25925;BrainSpMouseDev|86218	OMIM|610974;COSMIC||ALL
U2	SIX1	2.009465408	0	Transcription factor	BrainSpLMD|6495;Eurexp|euxassay_010410|diaphragm, digit 1, digit 2, digit 3, digit 4, digit 5, footplate, pituitary, thymus primordium, tongue, vertebral axis muscle system;BrainSpMouseDev|20233	OMIM|601205;HPO|6495|Abnormality of the cerebrum, Abnormality of the middle ear ossicles, Abnormality of the renal collecting system, Atresia of the external auditory canal, Autosomal dominant inheritance, Bifid uvula, Branchial cyst, Branchial fistula, Cholesteatoma, Cleft palate, Commissural lip pit, Conductive hearing impairment, Congenital hip dislocation, Dilatated internal auditory canal, Enlarged cochlear aqueduct, Euthyroid goiter, External ear malformation, Gustatory lacrimation, Hearing impairment, Heterogeneous, High palate, Hypoplasia of the cochlea, Incomplete partition of the cochlea type II, Incomplete penetrance, Intestinal malrotation, Lacrimal duct stenosis, Long face, Microdontia, Mixed hearing impairment, Morphological abnormality of the middle ear, Narrow face, Overbite, Polycystic kidney dysplasia, Preauricular pit, Preauricular skin tag, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia, Renal malrotation, Renal steatosis, Sensorineural hearing impairment, Stenosis of the external auditory canal, Variable expressivity, Vesicoureteral reflux
U2	CDKN3	2.004735145	0	Dual specificity phosphatase	BrainSpLMD|1033;Eurexp|euxassay_014422|axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, orbito-sphenoid, pelvic girdle, temporal bone, tibia, turbinate, vault of skull	OMIM|123832
U2	NCAPG	2.000887869	0	DNA binding protein	BrainSpLMD|64151;Eurexp|euxassay_013748|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|606280
U2	FAM111A	1.940813497	0	Unclassified	BrainSpLMD|63901;Eurexp|euxassay_011616|lobe, mandible, maxilla, orbito-sphenoid, thymus primordium, thyroid, ventricular layer	OMIM|615292;HPO|63901|Abnormality of the medullary cavity of the long bones, Anemia, Aniridia, Ankyloglossia, Ascites, Autosomal dominant inheritance, Basal ganglia calcification, Brachydactyly, Congenital cataract, Delayed closure of the anterior fontanelle, Failure to thrive, Flared metaphysis, Global developmental delay, Hydrocephalus, Hypermetropia, Hypocalcemia, Hypoparathyroidism, Hypoplastic spleen, Increased bone mineral density, Macrocephaly, Micropenis, Microphthalmia, Papilledema, Prominent forehead, Retinal calcification, Seizures, Severe short stature, Short stature, Slender long bone, Small for gestational age, Thickened cortex of long bones, Transient hypophosphatemia
U2	CDC25C	1.940580501	0	Dual specificity phosphatase	BrainSpLMD|995	OMIM|157680
U2	KIF11	1.936546049	0	Motor protein	BrainSpLMD|3832	OMIM|148760;HPO|3832|Abnormal toenail morphology, Abnormality of retinal pigmentation, Anteverted nares, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Broad nasal tip, Chorioretinal dysplasia, Cortical gyral simplification, Deep philtrum, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Flat occiput, Global developmental delay, Intellectual disability, Intellectual disability, mild, Leukonychia, Long philtrum, Lymphedema, Mandibular prognathia, Melanonychia, Microcephaly, Muscular hypotonia, Myopia, Protruding ear, Sloping forehead, Specific learning disability, Thick lower lip vermilion, Thin upper lip vermilion
U2	PDGFRA	1.921759006	0	Receptor tyrosine kinase	BrainSpLMD|5156;BrainSpMouseDev|18361	OMIM|173490;COSMIC||GIST, idiopathic hypereosinophilic syndrome, paediatric glioblastoma, GIST;HPO|5156|Abnormality of the nervous system, Autosomal dominant inheritance, Constipation, Dysphagia, Endocardial fibrosis, Eosinophilia, Fatigue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Hepatomegaly, Hyperpigmentation of the skin, Intestinal obstruction, Large hands, Myalgia, Myeloproliferative disorder, Nausea and vomiting, Neoplasm of the stomach, Neurofibromas, Pruritus, Pulmonary infiltrates, Restrictive cardiomyopathy, Sarcoma, Somatic mutation, Splenomegaly, Sporadic, Urticaria, Venous thrombosis
U2	CASC5	1.919430394	0			
U2	KDELC2	1.91812742	0	Unclassified	BrainSpLMD|143888	
U2	COL16A1	1.911598622	0	Extracellular matrix protein	BrainSpLMD|1307;Eurexp|euxassay_004359|trunk mesenchyme;BrainSpMouseDev|71746	OMIM|120326
U2	KIAA0101	1.904677656	0			
U2	ASPM	1.892309149	0	Unclassified	BrainSpLMD|259266	SFARI||Autism, 3 - Suggestive evidence;OMIM|605481;HPO|259266|Abnormal cortical bone morphology, Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Congenital onset, Cortical gyral simplification, Delayed speech and language development, Global developmental delay, Heterotopia, Highly arched eyebrow, Hyperreflexia, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Motor delay, Narrow forehead, Pachygyria, Proptosis, Short stature, Sloping forehead, Small cerebral cortex, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
U2	PRR11	1.882143361	0	Unclassified	BrainSpLMD|55771	OMIM|615920
U2	TOP2A	1.879339809	0	Enzyme: Topoisomerase	BrainSpLMD|7153	OMIM|126430;HPO|7153|Elevated urinary catecholamines, Neoplasm of the nervous system
U2	ZIC2	1.87620475	0	Transcription regulatory protein	BrainSpLMD|7546;BrainSpMouseDev|22529	OMIM|603073;HPO|7546|Abnormal facial shape, Autosomal dominant inheritance, Global developmental delay, Holoprosencephaly, Hydrocephalus, Intellectual disability, Microcephaly, Synophrys, Trigonocephaly
U2	GADD45B	1.875758226	0	Cell cycle control protein	BrainSpLMD|4616;Eurexp|euxassay_014952|Meckel's cartilage, olfactory, orbito-sphenoid	SFARI||Autism, 5 - Hypothesized but untested;OMIM|604948
U2	S1PR2	1.873441772	0	G protein coupled receptor	BrainSpLMD|9294;Eurexp|euxassay_006718|bladder, incisor, molar	OMIM|605111;HPO|9294|Autosomal recessive inheritance, Infantile onset, Sensorineural hearing impairment
U2	CD164	1.869699507	0	Adhesion molecule	Eurexp|euxassay_019262|epithelium, incisor, lung, molar, nucleus pulposus, olfactory, orbito-sphenoid, pancreas, pituitary, skeletal muscle, thymus primordium, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|32917	OMIM|603356;HPO|8763|Autosomal dominant inheritance, Sensorineural hearing impairment, Variable expressivity
U2	NUSAP1	1.851846901	0	Cell cycle control protein	BrainSpLMD|51203	OMIM|612818
U2	TYMS	1.843528783	0	Enzyme: Ligase	BrainSpLMD|7298;Eurexp|euxassay_008886|cardiovascular system, cavities and their linings, gland, integumental system, limb, marginal layer, mesenchyme, sensory organ, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|188350
U2	PBK	1.833469538	0	Serine/threonine kinase	BrainSpLMD|55872;Eurexp|euxassay_018747|adrenal gland, cervical, cervico-thoracic, incisor, liver, mandible, marginal layer, maxilla, metanephros, molar, naris, neural retina, olfactory, pancreas, sublingual gland primordium, thoracic, thymus primordium, thyroid, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|611210
U2	MKI67	1.787246018	0	Cell cycle control protein	BrainSpLMD|4288	OMIM|176741
U2	FKBP9	1.767394353	0	Chaperone	BrainSpLMD|11328;Eurexp|euxassay_007465|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, metatarsus, nasal septum, nucleus pulposus, orbito-sphenoid, otic capsule, phalanx, radius, rib, sternum, temporal bone, thyroid, tibia, turbinate, ulna, vault of skull	OMIM|616257;COSMIC||glioma
U2	SPC25	1.748928991	0	Cell cycle control protein	BrainSpLMD|57405;Eurexp|euxassay_000451|mantle layer, medulla oblongata, ventral grey horn, ventricular layer	OMIM|609395
U2	EBF1	1.746708572	0	Transcription factor	BrainSpLMD|1879;BrainSpMouseDev|13369	OMIM|164343;COSMIC||lipoma
U2	ARHGAP11A	1.725361068	0	GTPase activating protein	BrainSpLMD|9824;Eurexp|euxassay_018145|excretory component, hindgut, incisor, mantle layer, marginal layer, meninges, midgut, molar, neural retina, olfactory, stomach, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|610589
U2	FN1	1.704226981	0	Extracellular matrix protein	BrainSpLMD|2335;Eurexp|euxassay_001464|axial skeleton, stomach, ventricular layer;BrainSpMouseDev|14045	OMIM|135600;HPO|2335|Autosomal dominant inheritance, Edema of the lower limbs, Generalized distal tubular acidosis, Glomerulopathy, Hypertension, Hypoalbuminemia, Mesangial abnormality, Microscopic hematuria, Nephrotic syndrome, Proteinuria, Renal cell carcinoma, Renal insufficiency, Slow progression, Stage 5 chronic kidney disease
U2	SDC2	1.700579433	0	Adhesion molecule	BrainSpLMD|6383;Eurexp|euxassay_002176|Meckel's cartilage, basioccipital bone, orbito-sphenoid, rib, temporal bone	SFARI||Autism, 4 - Minimal evidence;OMIM|142460
U2	CALD1	1.691548989	0	Cytoskeletal associated protein	BrainSpLMD|800	OMIM|114213
U2	TPM2	1.666593704	0	Cytoskeletal protein	BrainSpLMD|7169	OMIM|190990;HPO|7169|Abnormality of the ear, Abnormality of the hip bone, Absent phalangeal crease, Adducted thumb, Aplasia/Hypoplasia of the radius, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bulbar palsy, Calcaneovalgus deformity, Camptodactyly, Camptodactyly of finger, Centrally nucleated skeletal muscle fibers, Childhood onset, Congenital onset, Decreased fetal movement, Difficulty walking, Dilated cardiomyopathy, Distal arthrogryposis, Downslanted palpebral fissures, Dysphagia, Elbow flexion contracture, Facial diplegia, Facial palsy, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Generalized muscle weakness, Gowers sign, Heterogeneous, High palate, Hyporeflexia, Joint stiffness, Kyphoscoliosis, Limb muscle weakness, Long face, Long philtrum, Lumbar hyperlordosis, Mandibular prognathia, Metatarsus adductus, Micrognathia, Motor delay, Muscular hypotonia, Myopathic facies, Myopathy, Narrow face, Narrow mouth, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Overlapping fingers, Pectus excavatum, Prominent nasolabial fold, Protruding ear, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Reduced tendon reflexes, Reduced vital capacity, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Rocker bottom foot, Round ear, Scapular winging, Scoliosis, Short neck, Short stature, Skeletal muscle atrophy, Talipes, Talipes equinovarus, Tarsal synostosis, Triangular face, Type 1 fibers relatively smaller than type 2 fibers, Type 1 muscle fiber predominance, Ulnar deviation of finger, Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the wrist, Variable expressivity, Vertebral segmentation defect, Waddling gait, Weak cry, Webbed neck, Wide nasal bridge
U2	RRBP1	1.628774552	0	Integral membrane protein	BrainSpLMD|6238	OMIM|601418
U2	ITM2A	1.596675379	0	Integral membrane protein	BrainSpLMD|9452	OMIM|300222
U2	TPX2	1.58560499	0	Cell cycle control protein	BrainSpLMD|22974	OMIM|605917
U2	FOSB	1.565867243	0	Transcription factor	BrainSpLMD|2354	OMIM|164772
U2	FANCD2	1.534055556	0	Cell cycle control protein	BrainSpLMD|2177	OMIM|613984;COSMIC||AML, leukaemia;HPO|2177|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of skin pigmentation, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anemia, Anemic pallor, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bruising susceptibility, Cafe-au-lait spot, Chromosomal breakage induced by crosslinking agents, Complete duplication of thumb phalanx, Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Duplicated collecting system, Ectopic kidney, Esophageal atresia, Global developmental delay, Hearing impairment, Horseshoe kidney, Hypergonadotropic hypogonadism, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukemia, Leukopenia, Microcephaly, Microphthalmia, Neutropenia, Pancytopenia, Prolonged G2 phase of cell cycle, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Reticulocytopenia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Small for gestational age, Strabismus, Thrombocytopenia, Tracheoesophageal fistula
U2	SMC4	1.529333962	0	Structural protein	BrainSpLMD|10051;Eurexp|euxassay_017379|incisor, liver, lung, metanephros, molar, neural retina, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|605575
U2	CD63	1.522108049	0	Integral membrane protein	BrainSpLMD|967	OMIM|155740
U2	NUCKS1	1.510150627	0	DNA binding protein	BrainSpLMD|64710	OMIM|611912
U2	PTGIS	1.507117355	0	Enzyme: Ligase	BrainSpLMD|5740;Eurexp|euxassay_004313|clavicle, diaphragm, mandible, maxilla, mesenchyme, penis, rib, tongue, vertebral axis muscle system	OMIM|601699;HPO|5740|Elevated diastolic blood pressure, Elevated mean arterial pressure, Elevated systolic blood pressure, Multifactorial inheritance
U2	DDX3Y	1.493890682	0	RNA binding protein	BrainSpLMD|8653	OMIM|400010;HPO|8653|Azoospermia, Decreased testicular size, Male infertility, Non-obstructive azoospermia, Oligospermia, Y-linked inheritance
U2	MYL12A	1.48990143	0	Calcium binding protein	BrainSpLMD|10627	
U2	VIM	1.46638596	0	Cytoskeletal protein	BrainSpLMD|7431	OMIM|193060;HPO|7431|Autosomal dominant inheritance, Congenital onset, Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract
U2	SERPINH1	1.442464511	0	Heat shock protein	BrainSpLMD|871	OMIM|600943;HPO|871|Autosomal recessive inheritance, Blue sclerae, Broad ribs, Chronic lung disease, Dentinogenesis imperfecta, Generalized hypotonia, Generalized joint laxity, Genu valgum, High forehead, High pitched voice, Inguinal hernia, Joint laxity, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Narrow chest, Narrow forehead, Nephrolithiasis, Osteopenia, Platyspondyly, Prominent forehead, Pyloric stenosis, Relative macrocephaly, Scoliosis, Shallow orbits, Short stature, Thin ribs, Triangular face, Vertebral compression fractures
U2	CKS2	1.415341812	0	Cell cycle control protein	BrainSpLMD|1164	OMIM|116901
U2	B4GALT1	1.40852811	0	Enzyme: Galactosyltransferase	BrainSpLMD|2683	OMIM|137060;HPO|2683|Abnormality of coagulation, Autosomal recessive inheritance, Dandy-Walker malformation, Elevated serum creatine phosphokinase, Generalized hypotonia, Global developmental delay, Hydrocephalus, Macrocephaly, Muscular hypotonia, Myopathy
U2	ALX4	1.364540652	0	Transcription factor	BrainSpLMD|60529;Eurexp|euxassay_012265|extrinsic ocular muscle, eye, mandible, meninges, penis, roof plate, submandibular gland primordium, turbinate bones, vibrissa;BrainSpMouseDev|11482	OMIM|605420;HPO|60529|Agenesis of cerebellar vermis, Agenesis of corpus callosum, Alopecia, Anteverted nares, Aplasia cutis congenita of scalp, Autosomal dominant inheritance, Autosomal recessive inheritance, Bifid nasal tip, Bifid nose, Brachycephaly, Broad nasal tip, Broad philtrum, Calvarial skull defect, Cerebellar vermis hypoplasia, Conical tooth, Coronal craniosynostosis, Craniosynostosis, Cryptorchidism, Decreased skull ossification, Depressed nasal bridge, Depressed nasal ridge, Depressed nasal tip, Dolichocephaly, Downturned corners of mouth, Encephalocele, Epicanthus, Exostoses, Fine hair, Frontal bossing, Global developmental delay, Hypertelorism, Hypogonadism, Hypoplasia of the corpus callosum, Intellectual disability, mild, Intellectual disability, moderate, Intrauterine growth retardation, Low-set ears, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Nystagmus, Oligohydramnios, Parietal foramina, Prominent nasal bridge, Scrotal hypoplasia, Seizures, Short palpebral fissure, Short philtrum, Sparse and thin eyebrow, Sparse eyelashes, Strabismus, Symmetrical, oval parietal bone defects, Telecanthus, Underdeveloped nasal alae, Upslanted palpebral fissure, Variable expressivity, Wide nasal bridge
U2	CKAP4	1.359923662	0	Cytoskeletal associated protein	BrainSpLMD|10970	
U2	SOCS3	1.338639271	0	Adapter molecule	BrainSpLMD|9021	OMIM|604176
U2	ANP32E	1.306116972	0	Unclassified	BrainSpLMD|81611	OMIM|609611
U2	RHOA	1.293487496	0	GTPase	BrainSpLMD|387;BrainSpMouseDev|11635	OMIM|165390;COSMIC||diffuse gastric, T cell lymphomas, paediatric Burkitt lymphoma
U2	HSP90B1	1.26442288	0	Heat shock protein	BrainSpLMD|7184;Eurexp|euxassay_000099|body-wall mesenchyme, dermis, epidermis, nucleus pulposus	OMIM|191175
U2	PTTG1	1.223968721	0	Transcription regulatory protein	BrainSpLMD|9232	OMIM|604147
U2	RREB1	1.20750522	0	Transcription factor	BrainSpLMD|6239;Eurexp|euxassay_007568|mantle layer;BrainSpMouseDev|44592	OMIM|602209;HPO|6239|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
U2	HMGB2	1.182489065	0	Transcription regulatory protein	BrainSpLMD|3148;Eurexp|euxassay_019251|incisor, lobe, lung, marginal layer, metanephros, molar, neural retina, oesophagus, pancreas, pituitary, submandibular gland primordium, thymus primordium, thyroid, trachea, turbinate bones, valve, ventricle, ventricular layer, vertebral axis muscle system	OMIM|163906
U2	GOLIM4	1.167157721	0	Integral membrane protein	BrainSpLMD|27333	OMIM|606805
U2	IFITM3	1.10998656	0	Integral membrane protein	BrainSpLMD|10410;Eurexp|euxassay_004558|pancreas, submandibular gland primordium, thymus primordium	OMIM|605579
U2	ZFHX4	1.089004106	0	Transcription factor	BrainSpLMD|79776;Eurexp|euxassay_005820|epidermis, mantle layer, nasal septum, urethra;BrainSpMouseDev|56662	OMIM|606940;HPO|79776|Autosomal dominant inheritance, Congenital ptosis
U2	HMGN2	0.989221648	0	Transcription regulatory protein	BrainSpLMD|3151;Eurexp|euxassay_007442|embryo;BrainSpMouseDev|15106	OMIM|163910
U2	ZFP36L1	0.886737691	0	Transcription factor	BrainSpLMD|677;Eurexp|euxassay_007310|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|11978	OMIM|601064
U2	SEMA3D	3.274846959	1.11E-16	Integral membrane protein	BrainSpLMD|223117;Eurexp|euxassay_013219|clavicle, cornea, diaphragm, ductus deferens, ear, incisor, mandible, maxilla, mesenchyme, naris, nasal septum, oesophagus, pericardial cavity, peritoneal cavity, pleural cavity, submandibular gland primordium, thyroid, trachea, urethra;BrainSpMouseDev|72311	OMIM|609907;HPO|223117|Abdominal pain, Aganglionic megacolon, Constipation, Intestinal obstruction, Nausea and vomiting, Weight loss
U2	MDFIC	2.702745265	1.11E-16	Unclassified	BrainSpLMD|29969;Eurexp|euxassay_013974|choroid invagination, choroid plexus	OMIM|614511
U2	CCND1	2.357928493	1.11E-16	Cell cycle control protein	BrainSpLMD|595;Eurexp|euxassay_002703|calyces, cervical, cervico-thoracic, neural retina, olfactory, orbito-sphenoid, submandibular gland primordium, thoracic, ventricular layer, vibrissa	OMIM|168461;COSMIC||CLL, B-ALL, breast;HPO|595|Abnormality of bone marrow cell morphology, Acute kidney injury, Anemia, Anorexia, B-cell lymphoma, Bone pain, Decreased antibody level in blood, Elevated serum creatinine, Fatigue, Fever, Generalized muscle weakness, Hyperproteinemia, Increased IgG level, Lymphadenopathy, Nephropathy, Nephrotic syndrome, Osteopenia, Pathologic fracture, Splenomegaly, Weight loss
U2	STIL	2.140291169	1.11E-16	Unclassified	BrainSpLMD|6491	OMIM|181590;COSMIC||T-ALL;HPO|6491|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Congenital onset, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
U2	THBS2	1.871717582	1.11E-16	Extracellular matrix protein	BrainSpLMD|7058	OMIM|188061
U2	RARRES2	1.852706871	1.11E-16	Cell surface receptor	BrainSpLMD|5919	OMIM|601973
U2	IRF1	1.811994651	1.11E-16	Transcription regulatory protein	BrainSpLMD|3659;Eurexp|euxassay_003661|midgut, testis, thymus primordium;BrainSpMouseDev|16135	OMIM|147575;HPO|3659|Alveolar cell carcinoma, Autosomal recessive inheritance, Somatic mutation, Stomach cancer
U2	CENPW	1.783731313	1.11E-16	Unclassified	Eurexp|euxassay_006383|roof plate, telencephalic part of interventricular foramen, thalamus	OMIM|611264
U2	MAD2L1	1.626708712	1.11E-16	Cell cycle control protein	BrainSpLMD|4085	OMIM|601467
U2	PLAC9	1.540344741	1.11E-16	Unclassified	Eurexp|euxassay_006803|axial skeleton, bladder, choroid plexus, ductus deferens, mesenchyme, oesophagus, sternum, stomach, submandibular gland primordium, trachea, ventricular layer	OMIM|612857
U2	DNAJC3	1.157219977	1.11E-16	Translation regulatory protein	BrainSpLMD|5611	OMIM|601184;HPO|5611|Atrophy/Degeneration affecting the brainstem, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Sensorineural hearing impairment, Short stature, Type I diabetes mellitus
U2	SAR1A	1.016704665	1.11E-16	GTPase	BrainSpLMD|56681;Eurexp|euxassay_004471|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|607691
U2	HLA.E	0.936948565	1.11E-16			
U2	FOXC1	3.28626851	2.22E-16	Transcription factor	BrainSpLMD|2296;Eurexp|euxassay_012742|meninges, mesenchyme, nasal cavity, nasal septum, otic capsule, submandibular gland primordium, turbinate bones;BrainSpMouseDev|17069	OMIM|601090;HPO|2296|Abnormal iris vasculature, Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Aniridia, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the macula, Atrial septal defect, Autosomal dominant inheritance, Axenfeld anomaly, Cataract, Cerebellar vermis hypoplasia, Concave nasal ridge, Ectopia pupillae, Everted lower lip vermilion, Glaucoma, Hearing impairment, Heterogeneous, Hypertelorism, Hypodontia, Hypoplasia of the iris, Hypoplastic iris stroma, Malar flattening, Microdontia, Midface retrusion, Nystagmus, Patent ductus arteriosus, Peters anomaly, Posterior embryotoxon, Proptosis, Rieger anomaly, Sensorineural hearing impairment, Visual loss
U2	CDCA4	2.580077624	2.22E-16	Unclassified	BrainSpLMD|55038	OMIM|612270
U2	RPL21P28	2.188888006	2.22E-16			
U2	KIF15	2.012428717	2.22E-16	Cell cycle control protein	BrainSpLMD|56992	OMIM|617569
U2	HMGN2P41	0.687691147	2.22E-16			
U2	POSTN	3.08930128	3.33E-16	Adhesion molecule	BrainSpLMD|10631;BrainSpMouseDev|30195	OMIM|608777
U2	CD55	2.1109861	3.33E-16	Complement protein	BrainSpLMD|1604;Eurexp|euxassay_009544|aorta, associated mesenchyme, bladder, left lung, liver, mesenchyme, mesentery, metanephros, oesophagus, olfactory, palatal shelf, right lung, stomach, trigeminal V	OMIM|125240;HPO|1604|Abdominal pain, Abnormality of the intestine, Ascites, Autosomal recessive inheritance, Budd-Chiari syndrome, Clubbing, Diarrhea, Edema, Growth delay, Hypoproteinemia, Iron deficiency anemia
U2	CDCA2	1.83439239	3.33E-16	Unclassified	BrainSpLMD|157313;Eurexp|euxassay_000111|cortex, marginal layer, metanephros, midbrain, thalamus, ventricular layer	
U2	CCDC34	1.530676865	3.33E-16	Unclassified	BrainSpLMD|91057	OMIM|612324
U2	GSN	1.200728995	3.33E-16	Cytoskeletal protein	BrainSpLMD|2934	SFARI||Autism, No category;OMIM|137350;HPO|2934|Abnormality of abdomen morphology, Adult onset, Autosomal dominant inheritance, Bulbar palsy, Cardiac amyloidosis, Cardiomyopathy, Cutis laxa, Generalized amyloid deposition, Lattice corneal dystrophy, Nephrotic syndrome, Polyneuropathy, Renal insufficiency
U2	RPL41P1	1.11374325	3.33E-16			
U2	HMGB1P5	0.958267966	3.33E-16			
U2	KIF20A	2.473225906	4.44E-16	Motor protein	BrainSpLMD|10112;Eurexp|euxassay_004675|ventricular layer	OMIM|605664
U2	GRN	2.099749627	4.44E-16	Growth factor	BrainSpLMD|2896	OMIM|138945;HPO|2896|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Aggressive behavior, Agitation, Alexia, Anxiety, Apathy, Aphasia, Apraxia, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral cortical atrophy, Collectionism, Depressivity, Dilation of lateral ventricles, Disinhibition, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, EEG abnormality, EEG with continuous slow activity, Echolalia, Emotional blunting, Frontotemporal cerebral atrophy, Frontotemporal dementia, Generalized myoclonic seizures, Gliosis, Grammar-specific speech disorder, Hallucinations, Hyperorality, Hypersexuality, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Mutism, Neuronal loss in central nervous system, Optic atrophy, Parkinsonism, Perseveration, Personality changes, Polyphagia, Poor speech, Progressive language deterioration, Rapidly progressive, Repetitive compulsive behavior, Restlessness, Restrictive behavior, Retinal dystrophy, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold, Visual impairment
U2	FRMD6	2.048977731	4.44E-16	Unclassified	BrainSpLMD|122786;Eurexp|euxassay_002791|basal plate, lung, submandibular gland primordium, thymus primordium, vibrissa	OMIM|614555
U2	CENPO	1.308938673	4.44E-16	Unclassified	BrainSpLMD|79172;Eurexp|euxassay_000072|Meckel's cartilage, basal plate, chondrocranium, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, molar, olfactory, submandibular gland primordium, testis, thymus primordium, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|611504
U2	CCNB2	1.705536198	5.55E-16	Cell cycle control protein	BrainSpLMD|9133;Eurexp|euxassay_004323|axial muscle, ventricular layer	OMIM|602755
U2	TUBB4B	1.593901649	5.55E-16	Structural protein	BrainSpLMD|10383	OMIM|602660
U2	MT.RNR1	1.458257657	5.55E-16			
U2	ADAMTS4	2.430264812	6.66E-16	Metallo protease	BrainSpLMD|9507;Eurexp|euxassay_004320|vibrissa	OMIM|603876
U2	CENPF	1.369930477	6.66E-16	Cell cycle control protein	BrainSpLMD|1063	OMIM|600236
U2	GAS2	2.836601156	7.77E-16	Cytoskeletal associated protein	BrainSpLMD|2620;Eurexp|euxassay_000440|genital tubercle, skeleton, tongue	SFARI||Autism, 4 - Minimal evidence;OMIM|602835
U2	CD248	1.625218813	7.77E-16	Integral membrane protein	BrainSpLMD|57124;Eurexp|euxassay_012090|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, otic capsule, pelvic girdle, radius, rib, scapula, tarsus, temporal bone, tibia, turbinate	OMIM|606064
U2	DLGAP5	1.680361232	8.88E-16	Cell cycle control protein	BrainSpLMD|9787	
U2	FBLN2	2.374460136	9.99E-16	Extracellular matrix protein	BrainSpLMD|2199;Eurexp|euxassay_011955|axial skeleton, basioccipital bone, basisphenoid bone, diaphragm, footplate, handplate, mantle layer, meninges, mesenchyme, mesentery, mesothelium, midgut, naris, nasal septum, orbito-sphenoid, otic capsule, petrous part, phalanx, rib, turbinate bones, urogenital mesentery, valve, vault of skull	OMIM|135821;COSMIC||breast cancer, colorectal adenocarcinoma
U2	C1S	2.359105416	9.99E-16	Complement protein	BrainSpLMD|716;Eurexp|euxassay_003047|calyces, chondrocranium, lobe	OMIM|120580;HPO|716|Abnormality of complement system, Agenesis of permanent teeth, Atrophic scars, Atrophy of alveolar ridges, Autosomal dominant inheritance, Bruising susceptibility, Fragile skin, Gingival overgrowth, Hashimoto thyroiditis, Hepatitis, Hyperextensible skin, Hypermelanotic macule, Joint hyperflexibility, Joint hypermobility, Microdontia, Neoplasm, Periodontitis, Short stature, Systemic lupus erythematosus
U2	ATRAID	1.753716696	1.11E-15	Unclassified	BrainSpLMD|51374	
U2	FNDC3B	2.184057195	1.22E-15	Integral membrane protein	BrainSpLMD|64778	OMIM|611909
U2	H2AFZ	1.15288092	1.22E-15	DNA binding protein	BrainSpLMD|3015	OMIM|142763
U2	TROAP	2.016884698	1.67E-15	Adhesion molecule	BrainSpLMD|10024	OMIM|603872
U2	MELK	2.785063904	1.78E-15	Serine/threonine kinase	BrainSpLMD|9833;Eurexp|euxassay_018584|4th ventricle, choroid plexus, clavicle, cortex, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, hindgut, incisor, left, loop, lumen, mandible, mantle layer, maxilla, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, pancreas, rectum, renal/urinary system, respiratory, right, stomach, submandibular gland primordium, testis, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|607025
U2	CDCA5	2.263301544	1.89E-15	Unclassified	BrainSpLMD|113130	OMIM|609374
U2	ECT2	1.866719256	1.89E-15	Guanine nucleotide exchange factor	BrainSpLMD|1894;Eurexp|euxassay_018792|marginal layer, ventricular layer	OMIM|600586
U2	SMC2	1.472652704	2.00E-15	Unclassified	BrainSpLMD|10592;Eurexp|euxassay_011062|cortex, dorsal grey horn, incisor, lobe, lung, marginal layer, molar, orbito-sphenoid, submandibular gland primordium, thymus primordium, turbinate bones, ventral grey horn, ventricular layer, vibrissa	OMIM|605576
U2	FBLN1	1.387372615	2.00E-15	Extracellular matrix protein	BrainSpLMD|2192;Eurexp|euxassay_011935|bladder, meninges, mesenchyme, midgut, nasal cavity, stomach, valve	OMIM|135820;HPO|2192|Autosomal dominant inheritance, Carpal synostosis, Metacarpal synostosis, Metatarsal synostosis, Polydactyly, Tarsal synostosis, Toe syndactyly
U2	RBMS3	1.779588073	2.11E-15	RNA binding protein	BrainSpLMD|27303	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605786
U2	OSTC	1.444931226	2.22E-15	Integral membrane protein	BrainSpLMD|58505;Eurexp|euxassay_003969|Meckel's cartilage, clavicle, cranium, rib, turbinate	
U2	PRSS23	2.076187564	2.66E-15	Serine protease	BrainSpLMD|11098;Eurexp|euxassay_007251|axial skeleton, incisor, metanephros, physiological umbilical hernia, turbinate bones	
U2	KDELR3	2.024812945	2.78E-15	Transport/cargo protein	BrainSpLMD|11015;Eurexp|euxassay_006187|bladder, clavicle, mandible, maxilla, mesenchyme, midgut, naris, nasal septum, oesophagus, orbito-sphenoid, otic capsule, petrous part, rib, stomach, thyroid, turbinate bones, vault of skull	
U2	TULP2	1.115071987	2.89E-15	Transcription regulatory protein	BrainSpLMD|7288	OMIM|602309
U2	FAM46C	3.331680401	3.00E-15	Unclassified	BrainSpLMD|54855;Eurexp|euxassay_013491|lens, lobe, pancreas	OMIM|613952;COSMIC||MM
U2	FGFR1	1.738501742	3.22E-15	Receptor tyrosine kinase	BrainSpLMD|2260;BrainSpMouseDev|13959	OMIM|136350;COSMIC||MPN, NHL, salivary adenoma, Pfeiffer syndrome, Kallman syndrome;HPO|2260|2-3 toe syndactyly, Abnormal form of the vertebral bodies, Abnormality of body height, Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Abnormality of the clavicle, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Absent septum pellucidum, Agenesis of corpus callosum, Alopecia, Anosmia, Anterior hypopituitarism, Anterior pituitary hypoplasia, Anteverted nares, Anxiety, Aphasia, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Arachnoid cyst, Arnold-Chiari malformation, Atrial septal defect, Autosomal dominant inheritance, Bicoronal synostosis, Bimanual synkinesia, Bone cyst, Bowing of the long bones, Brachycephaly, Brachyturricephaly, Breast hypoplasia, Broad foot, Broad hallux, Broad hallux phalanx, Broad metacarpals, Broad metatarsal, Broad palm, Broad phalanx, Broad thumb, Bronchomalacia, Calcaneonavicular fusion, Capillary hemangiomas, Cartilaginous trachea, Cerebellar hypoplasia, Cerebral calcification, Cerebral cortical atrophy, Choanal atresia, Choanal stenosis, Chordee, Cleft eyelid, Cleft palate, Cleft upper lip, Cloverleaf skull, Corneal opacity, Coronal craniosynostosis, Cortical dysplasia, Craniofacial hyperostosis, Craniosynostosis, Cryptorchidism, Dandy-Walker malformation, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Depressivity, Diabetes insipidus, Downslanted palpebral fissures, Dysphasia, Echolalia, Ectrodactyly, Elbow ankylosis, Encephalocele, Epibulbar dermoid, Epicanthus, Erectile abnormalities, Eunuchoid habitus, Failure to thrive, Failure to thrive in infancy, Female hypogonadism, Finger syndactyly, Frontal bossing, Global developmental delay, Gonadotropin deficiency, Gynecomastia, Hallux varus, Hemiplegia/hemiparesis, Heterogeneous, High forehead, High palate, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hypernatremia, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the frontal bone, Hypoplasia of the iris, Hypoplasia of the maxilla, Hypoplasia of the ovary, Hypoplasia of the uterus, Hypoplastic scapulae, Hypoplastic toenails, Hyposmia, Hypospadias, Hypotelorism, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Incomplete penetrance, Increased female libido, Increased susceptibility to fractures, Inguinal hernia, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Limb undergrowth, Linear hyperpigmentation, Lipodystrophy, Lipoma, Lipomas of the central neryous system, Lobar holoprosencephaly, Long penis, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hemivertebrae, Macrocephaly, Malar flattening, Male hypogonadism, Mandibular prognathia, Meckel diverticulum, Microcephaly, Microdontia, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Multiple lipomas, Multiple unerupted teeth, Muscle stiffness, Mutism, Nasal obstruction, Neonatal hypotonia, Neoplasm of the skeletal system, Nevus flammeus, Non-midline cleft lip, Non-obstructive azoospermia, Nystagmus, Oligodontia, Omphalocele, Osteolysis, Osteopenia, Osteoporosis, Pelvic kidney, Peripheral pulmonary artery stenosis, Platyspondyly, Posteriorly rotated ears, Preauricular skin tag, Primary amenorrhea, Prominent supraorbital ridges, Proptosis, Protruding ear, Pseudoarthrosis, Ptosis, Pulmonary arterial hypertension, Reduced bone mineral density, Reduced number of teeth, Respiratory distress, Respiratory insufficiency, Retinopathy, Rhizomelia, Rigidity, Sclerocornea, Secondary amenorrhea, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Severe short stature, Shallow orbits, Short foot, Short hallux, Short metacarpal, Short metatarsal, Short middle phalanx of toe, Short neck, Short nose, Short palm, Short phalanx of finger, Short stature, Shortening of all middle phalanges of the fingers, Somatic mosaicism, Sparse body hair, Spasticity, Split hand, Sporadic, Strabismus, Subcortical cerebral atrophy, Subcutaneous lipoma, Subcutaneous nodule, Subvalvular aortic stenosis, Syndactyly, Synophrys, Telecanthus, Toe syndactyly, Tricuspid valve prolapse, Trigonocephaly, Unerupted tooth, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide intermamillary distance, Wide nasal bridge, Wide nose, Xanthomatosis
U2	FKBP14	2.505465494	3.44E-15	Enzyme: Isomerase	BrainSpLMD|55033;Eurexp|euxassay_003765|Meckel's cartilage, basisphenoid bone, clavicle, incisor, molar, orbito-sphenoid, rib, turbinate	OMIM|614505;HPO|55033|Atrophic scars, Autosomal recessive inheritance, Bruising susceptibility, Easy fatigability, Elevated serum creatine phosphokinase, Follicular hyperkeratosis, Hernia, High-frequency sensorineural hearing impairment, Hyperextensible skin, Joint hypermobility, Kyphoscoliosis, Motor delay, Muscular hypotonia, Myopathy, Myopia, Osteopenia, Pes planus, Phenotypic variability, Poor head control, Sensorineural hearing impairment, Severe muscular hypotonia, Skeletal muscle atrophy, Soft skin
U2	GPX7	1.811892578	3.44E-15	Enzyme: Peroxidase	BrainSpLMD|2882;Eurexp|euxassay_018909|alimentary system, alveolar sulcus, anterior, arachnoid mater, associated mesenchyme, axial skeleton, central nervous system, cerebral cortex, cervical region, choroid invagination, choroid plexus, clavicle, dermal component, dermis, duodenum, dura mater, embryo, epidermal component, epidermis, epithelium, external, foregut, foregut-midgut junction, fundus, gut, hindgut, intervertebral disc, intrinsic, lip, lower jaw, lumbar region, mandible, masseter, meninges, mesenchyme, midgut, naris, nasal cavity, nose, nucleus pulposus, olfactory, palatal shelf, pectoral girdle and thoracic body wall, physiological umbilical hernia, pia mater, pineal primordium, respiratory, rest of midgut, rest of skin, rib, rostral part, scapula, skeleton, stomach, temporal bone, thoracic region, transverse component, turbinate bones, upper jaw, vertebral axis muscle system, vertebral cartilage condensation, vertical component, vibrissa, visceral organ	OMIM|615784
U2	HJURP	2.107516988	3.77E-15	Unclassified	BrainSpLMD|55355	OMIM|612667
U2	FBN2	2.629548195	4.44E-15	Structural protein	BrainSpLMD|2201;Eurexp|euxassay_008110|lung, mesenchyme	OMIM|612570;HPO|2201|Abnormally folded helix, Adducted thumb, Aortic root dilatation, Arachnodactyly, Arthrogryposis multiplex congenita, Atrial septal defect, Autosomal dominant inheritance, Bicuspid aortic valve, Brachycephaly, Calf muscle hypoplasia, Camptodactyly of finger, Congenital kyphoscoliosis, Crumpled ear, Disproportionate tall stature, Distal arthrogryposis, Ectopia lentis, Frontal bossing, High palate, Joint stiffness, Macular degeneration, Metatarsus adductus, Mitral regurgitation, Mitral valve prolapse, Motor delay, Myopia, Osteopenia, Patellar dislocation, Patellar subluxation, Patent ductus arteriosus, Pectus carinatum, Reduced visual acuity, Scaphocephaly, Short neck, Slender build, Ulnar deviation of finger, Ventricular septal defect, Visual impairment
U2	MBNL2	1.482151871	4.44E-15	RNA binding protein	BrainSpLMD|10150;Eurexp|euxassay_005986|cerebral cortex, dorsal root ganglion, embryo, forebrain, glossopharyngeal IX, lung, midbrain, oesophagus, trigeminal V, vagus X	OMIM|607327
U2	TCEA3	3.121056911	4.66E-15	Transcription regulatory protein	BrainSpLMD|6920	OMIM|604128
U2	CCDC18	2.177649617	4.66E-15	T cell antigen receptor	BrainSpLMD|343099	
U2	ZFP36L2	0.897730994	5.55E-15	Transcription factor	BrainSpLMD|678	OMIM|612053
U2	EMP2	1.796366609	5.88E-15	Cell cycle control protein	BrainSpLMD|2013;Eurexp|euxassay_013721|bladder, epithelium, incisor, larynx, left lung, mantle layer, marginal layer, midgut, molar, pharyngo-tympanic tube, rectum, right lung, skeletal muscle, stomach, thymus primordium, trachea, urethra, ventricular layer, vibrissa	OMIM|602334;HPO|2013|Autosomal recessive inheritance, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome
U2	CKAP2L	1.703881934	6.66E-15	Unclassified	BrainSpLMD|150468;Eurexp|euxassay_002011|thymus primordium, ventricular layer	OMIM|616174;HPO|150468|2-4 toe syndactyly, Aphasia, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Broad forehead, Cerebellar atrophy, Clinodactyly of the 5th finger, Cryptorchidism, Decreased body weight, Delayed skeletal maturation, Dysphasia, Dystonia, Echolalia, Finger syndactyly, Frontal bossing, Frontal hirsutism, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Low hanging columella, Microcephaly, Microdontia, Mutism, Optic atrophy, Postnatal growth retardation, Prominent forehead, Prominent nasal bridge, Proptosis, Seizures, Severe short stature, Short philtrum, Single transverse palmar crease, Specific learning disability, Thin vermilion border, Underdeveloped nasal alae, Ventricular septal defect, Visual impairment, Wide nasal bridge, Wide nose
U2	COL9A3	2.174157207	7.11E-15	Extracellular matrix protein	BrainSpLMD|1299;Eurexp|euxassay_002050|axial skeleton, basioccipital bone, basisphenoid bone, choroid plexus, exoccipital bone, lateral recess, leg, mesenchyme, orbito-sphenoid, pectoral girdle and thoracic body wall, rib, submandibular gland primordium, temporal bone, testis, trachea, turbinate;BrainSpMouseDev|12624	OMIM|120270;HPO|1299|Abnormality of epiphysis morphology, Abnormality of the hip joint, Amblyopia, Arthralgia, Astigmatism, Autosomal dominant inheritance, Cataract, Cleft palate, Delayed epiphyseal ossification, Epiphyseal dysplasia, Flat face, Gait disturbance, Genu valgum, Heterogeneous, Hip dysplasia, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Limitation of joint mobility, Malar flattening, Micrognathia, Micromelia, Mild short stature, Mildly elevated creatine phosphokinase, Myopia, Osteoarthritis, Platyspondyly, Proximal muscle weakness, Retinal detachment, Sensorineural hearing impairment, Short metacarpal, Short stature, Small epiphyses, Vitreoretinal degeneration
U2	BMP3	2.697445772	7.22E-15	Ligand	BrainSpLMD|651;Eurexp|euxassay_008763|axial muscle, axial skeleton, cervical, cervico-thoracic, extrinsic ocular muscle, lip, lung, mandible, mantle layer, maxilla, mesenchyme, metanephros, metatarsus, midgut, nasal septum, nucleus pulposus, orbito-sphenoid, palatal shelf, phalanx, pharyngo-tympanic tube, rib, skeletal muscle, stomach, temporal bone, thoracic, turbinate bones, ureter, urethra, vibrissa;BrainSpMouseDev|74232	OMIM|112263
U2	TRAM2	2.680529887	7.66E-15	Membrane transport protein	BrainSpLMD|9697;Eurexp|euxassay_004974|axial skeleton, hyoid bone, naris, olfactory, petrous part, rib, sternum, turbinate bones	OMIM|608485
U2	BRCA2	1.757042121	7.77E-15	Transcription regulatory protein	BrainSpLMD|675;Eurexp|euxassay_019615|ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|600185;COSMIC||breast, ovarian, pancreatic, breast, ovarian, pancreatic, leukaemia  (FANCB, FANCD1);HPO|675|Abdominal pain, Abnormality of chromosome stability, Abnormality of the fallopian tube, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone marrow hypocellularity, Breast carcinoma, Chromosomal breakage induced by crosslinking agents, Esophageal atresia, Global developmental delay, Heterogeneous, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Nephroblastoma, Ovarian neoplasm, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Somatic mutation, Thrombocytopenia, Tracheoesophageal fistula
U2	TXLNA	1.600697846	7.88E-15	Unclassified	BrainSpLMD|200081;Eurexp|euxassay_005956|embryo	OMIM|608676
U2	EFNA5	1.432892839	7.88E-15	Ligand	BrainSpLMD|1946;BrainSpMouseDev|13418	OMIM|601535
U2	SNHG23	1.57759206	7.99E-15			
U2	CDKN1C	0.957026662	8.22E-15	Cell cycle control protein	BrainSpLMD|1028	OMIM|600856;HPO|1028|Accelerated skeletal maturation, Adrenal hypoplasia, Adrenocortical carcinoma, Adrenocortical cytomegaly, Autosomal dominant inheritance, Cardiomegaly, Cardiomyopathy, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Decreased testicular size, Delayed skeletal maturation, Depressed nasal bridge, Diastasis recti, Enlarged kidney, Epiphyseal dysplasia, Frontal bossing, Gonadoblastoma, Growth hormone deficiency, Hemihypertrophy, Hepatoblastoma, Hepatomegaly, Hydronephrosis, Hypercalcemia, Hypercalciuria, Hypogonadism, Hypospadias, Intrauterine growth retardation, Large fontanelles, Low-set ears, Macroglossia, Metaphyseal dysplasia, Micromelia, Micropenis, Midface retrusion, Muscular hypotonia, Neonatal hypoglycemia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Omphalocele, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Posterior helix pit, Postnatal growth retardation, Prominent forehead, Prominent metopic ridge, Prominent occiput, Proptosis, Renal cortical cysts, Short nose, Short stature, Vesicoureteral reflux
U2	MIS18BP1	1.13265726	8.33E-15	Transcription regulatory protein	BrainSpLMD|55320;Eurexp|euxassay_004198|ventricular layer	
U2	IGFBP4	1.840537356	8.44E-15	Adhesion molecule	BrainSpLMD|3487;BrainSpMouseDev|15783	OMIM|146733
U2	ARSB	1.22810513	8.44E-15	Enzyme: Sulphatase	BrainSpLMD|411	OMIM|611542;HPO|411|Abnormality of the heart valves, Anterior wedging of L1, Anterior wedging of L2, Autosomal recessive inheritance, Broad ribs, Cardiomyopathy, Cervical myelopathy, Coarse facial features, Constrictive median neuropathy, Depressed nasal bridge, Dermatan sulfate excretion in urine, Disproportionate short-trunk short stature, Dolichocephaly, Dysostosis multiplex, Epiphyseal dysplasia, Flared iliac wings, Genu valgum, Glaucoma, Hearing impairment, Hepatomegaly, Hip dysplasia, Hirsutism, Hydrocephalus, Hypoplasia of the odontoid process, Hypoplastic acetabulae, Hypoplastic iliac wing, Inguinal hernia, Joint stiffness, Lumbar hyperlordosis, Macrocephaly, Macroglossia, Metaphyseal irregularity, Metaphyseal widening, Opacification of the corneal stroma, Ovoid vertebral bodies, Prominent sternum, Recurrent upper respiratory tract infections, Splenomegaly, Split hand, Umbilical hernia
U2	B2M	1.319187342	9.88E-15	MHC complex protein	BrainSpLMD|567	OMIM|109700;COSMIC||DLBCL, melanoma, colorectal adenocarcinoma, Immunodeficiency 43;HPO|567|Autonomic bladder dysfunction, Autonomic dysregulation, Autosomal dominant inheritance, Autosomal recessive inheritance, Bowel incontinence, Bronchiectasis, Cholestasis, Chronic constipation, Chronic diarrhea, Edema, Gastrointestinal dysmotility, Gastrointestinal hemorrhage, Generalized amyloid deposition, Hematuria, Hepatomegaly, Hypertension, Hypoalbuminemia, Hypoplasia of the ulna, Hypoproteinemia, IgG deficiency, Intermittent diarrhea, Keratoconjunctivitis sicca, Malabsorption, Nephropathy, Nephrotic syndrome, Orthostatic hypotension due to autonomic dysfunction, Proteinuria, Radial bowing, Recurrent respiratory infections, Skin rash, Splenomegaly, Variable expressivity, Vertigo, Weight loss, Xerostomia
U2	COL6A1	0.894902688	1.18E-14	Extracellular matrix protein	BrainSpLMD|1291;BrainSpMouseDev|12616	OMIM|120220;HPO|1291|Abnormality of the cardiovascular system, Abnormality of the palate, Adducted thumb, Ankle contracture, Autosomal dominant inheritance, Autosomal recessive inheritance, Cachexia, Camptodactyly of finger, Congenital muscular dystrophy, Congenital muscular torticollis, Decreased fetal movement, Diaphragmatic weakness, Distal muscle weakness, EMG abnormality, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated serum creatine phosphokinase, Esotropia, Facial palsy, Failure to thrive, Feeding difficulties in infancy, Flexion contracture, Follicular hyperkeratosis, Frequent falls, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, High palate, Hip dislocation, Hyperextensibility at wrists, Hyperhidrosis, Increased endomysial connective tissue, Increased laxity of ankles, Increased laxity of fingers, Increased variability in muscle fiber diameter, Infantile onset, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphosis, Limb-girdle muscle weakness, Long toe, Micrognathia, Mildly elevated creatine phosphokinase, Motor delay, Muscle fiber necrosis, Myopathy, Neonatal hypotonia, Nocturnal hypoventilation, Pes valgus, Progressive, Protruding ear, Proximal muscle weakness, Recurrent lower respiratory tract infections, Respiratory failure, Respiratory insufficiency due to muscle weakness, Round face, Scoliosis, Short neck, Skeletal muscle atrophy, Slender build, Slender finger, Slow progression, Spinal rigidity, Talipes equinovarus, Torticollis, Type 1 muscle fiber predominance, Variable expressivity
U2	PRRX2	2.045845848	1.31E-14	Transcription factor	BrainSpLMD|51450;Eurexp|euxassay_019464|clavicle, incisor, mandible, maxilla, molar, nasal septum, orbito-sphenoid, palatal shelf, penis, pericardium, skin, turbinate, vibrissa;BrainSpMouseDev|19967	OMIM|604675
U2	S100A4	1.420022341	1.53E-14	Calcium binding protein	Eurexp|euxassay_007749|choroid invagination, choroid plexus, mesenchyme, roof plate, thymus primordium	OMIM|114210
U2	ZFHX3	1.494319802	1.68E-14	DNA binding protein	BrainSpLMD|463;Eurexp|euxassay_016590|axial skeleton, cervical, cervico-thoracic, cornea, dorsal root ganglion, exoccipital bone, facial VII, glossopharyngeal IX, head mesenchyme, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, mesenchyme, metatarsus, neural retina, orbito-sphenoid, penis, thoracic, trigeminal V, turbinate, vagus X, vault of skull, ventral grey horn;BrainSpMouseDev|11693	OMIM|104155;COSMIC||endometrial, gastric, prostate
U2	FIBIN	2.617836893	1.72E-14	Unclassified	BrainSpLMD|387758;Eurexp|euxassay_012586|anterior abdominal wall, axial skeleton, cervical region, cranial muscle, diaphragm, extrinsic ocular muscle, lip, lumbar region, mesenchyme, metatarsus, naris, palatal shelf, phalanx, sacral region, sternum, tarsus, thoracic region, tongue, trachea, vibrissa	OMIM|617085
U2	KIF18A	2.14346944	1.75E-14	Motor protein	BrainSpLMD|81930	OMIM|611271
U2	ADAMTS2	2.444721588	1.90E-14	Metallo protease	BrainSpLMD|9509	OMIM|604539;HPO|9509|Abnormality of primary molar morphology, Abnormality of subcutaneous fat tissue, Aphasia, Autosomal recessive inheritance, Avascular necrosis of the capital femoral epiphysis, Blepharochalasis, Blue sclerae, Bruising susceptibility, Coxa valga, Coxa vara, Delayed closure of the anterior fontanelle, Depressed nasal bridge, Downslanted palpebral fissures, Dysphasia, Echolalia, Epicanthus, Esophagitis, Everted lower lip vermilion, Excessive wrinkled skin, Femoral hernia, Fragile skin, Frontal open bite, Gastroesophageal reflux, Gingival bleeding, Gingival hyperkeratosis, Gingival overgrowth, Hiatus hernia, Hip dislocation, Hip dysplasia, Hirsutism, Hyperextensible skin, Hypodontia, Inguinal hernia, Joint hyperflexibility, Joint laxity, Joint stiffness, Micrognathia, Micromelia, Motor delay, Muscular hypotonia, Mutism, Myopia, Osteomalacia, Osteopenia, Osteoporosis, Premature birth, Premature rupture of membranes, Prolonged bleeding time, Recurrent mandibular subluxations, Redundant skin, Retrognathia, Rickets, Scarring, Scoliosis, Severe short stature, Short phalanx of finger, Short stature, Short toe, Soft, doughy skin, Spontaneous neonatal pneumothorax, Thick vermilion border, Thin skin, Umbilical hernia, Wide anterior fontanel
U2	PTPN13	1.655940358	1.94E-14	Tyrosine phosphatase	BrainSpLMD|5783	OMIM|600267;COSMIC||lung, NSCLC, gastric, peritoneal carcinomatosis, hepatocellular
U2	POLQ	1.968804759	1.97E-14	DNA polymerase	BrainSpLMD|10721	OMIM|604419;COSMIC||oral SCC, breast cancer
U2	VCAN	0.780433489	2.00E-14	Extracellular matrix protein	BrainSpLMD|1462	OMIM|118661;HPO|1462|Autosomal dominant inheritance, Cataract, Chorioretinal atrophy, Glaucoma, Myopia, Optic atrophy, Optically empty vitreous, Peripheral traction retinal detachment, Retinal pigment epithelial atrophy, Visual field defect, Visual loss, Vitreoretinal degeneration
U2	NEIL3	2.636937753	2.05E-14	Enzyme: Glycosylase	BrainSpLMD|55247	OMIM|608934
U2	CTD.2031P19.4	1.382314253	2.08E-14			
U2	CDH11	1.682220086	2.11E-14	Cell junction protein	BrainSpLMD|1009;BrainSpMouseDev|12337	SFARI||Autism, No category;OMIM|600023;COSMIC||aneurysmal bone cyst
U2	WBP5	1.053833653	2.12E-14			
U2	RP11.38H17.1	2.000829044	2.13E-14			
U2	CCNB1	1.836721203	2.25E-14	Cell cycle control protein	BrainSpLMD|891	OMIM|123836
U2	CENPU	1.160424471	2.25E-14	Unclassified	BrainSpLMD|79682	OMIM|611511
U2	PRDX4	1.715675844	2.48E-14	Enzyme: Peroxidase	BrainSpLMD|10549	OMIM|300927
U2	NUF2	1.890802876	2.81E-14	Cytoskeletal associated protein;Cell cycle control protein	BrainSpLMD|83540	OMIM|611772
U2	THBS1	1.70427162	2.89E-14	Extracellular matrix protein	BrainSpLMD|7057;Eurexp|euxassay_005711|axial skeleton, clavicle, cranium, footplate, handplate, left lung, lip, liver, mesenchyme, naris, rest of mesenchyme, right lung, sternum, turbinate bones	SFARI||Autism, No category;OMIM|188060
U2	CKS1B	1.54919263	2.98E-14	Cell cycle control protein		OMIM|116900
U2	SKA1	2.021548148	3.00E-14	Unclassified	BrainSpLMD|220134	OMIM|616673
U2	OST4	1.131609475	3.19E-14	-	Eurexp|euxassay_002153|Meckel's cartilage, orbito-sphenoid	
U2	HMGN2P6	0.510154129	3.29E-14			
U2	PDIA6	1.591179134	3.30E-14	Enzyme: Isomerase	BrainSpLMD|10130	OMIM|611099
U2	AXL	1.290348351	3.45E-14	Receptor tyrosine kinase	BrainSpLMD|558;Eurexp|euxassay_001756|cardiovascular system, gland, head mesenchyme, integumental system, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|26110	OMIM|109135;HPO|558|Autosomal dominant inheritance, Autosomal recessive inheritance, Cryptorchidism, Decreased testicular size, Gynecomastia, Hypogonadotrophic hypogonadism, Micropenis, Primary amenorrhea, Sparse axillary hair, Sparse pubic hair
U2	RGCC	0.551660275	3.61E-14	Cell cycle control protein	BrainSpLMD|28984;Eurexp|euxassay_007417|dorsal root ganglion, facial VII, glossopharyngeal IX, left, liver, mandible, mantle layer, marginal layer, maxilla, mesenchyme, right, thymus primordium, thyroid, trigeminal V, ventral grey horn, ventricular layer	OMIM|610077
U2	PTN	1.884347095	3.85E-14	Cytokine	BrainSpLMD|5764	OMIM|162095
U2	PHGDH	1.634859931	3.90E-14	Enzyme: Dehydrogenase	BrainSpLMD|26227	OMIM|606879;HPO|26227|Ablepharon, Abnormality of the philtrum, Absent eyelashes, Absent septum pellucidum, Adducted thumb, Agenesis of corpus callosum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Bifid uterus, Broad foot, Calcaneovalgus deformity, Camptodactyly, Cataract, Cerebellar hypoplasia, Cerebral dysmyelination, Choroid plexus cyst, Cleft palate, Cleft upper lip, Clinodactyly, Congenital cataract, Congenital microcephaly, Cryptorchidism, Dandy-Walker malformation, Decreased fetal movement, Decreased testicular size, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Finger syndactyly, Generalized edema, Growth delay, Hydranencephaly, Hypertelorism, Hypogonadism, Hypsarrhythmia, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Lack of skin elasticity, Large hands, Lissencephaly, Macrogyria, Macrotia, Megaloblastic anemia, Microcephaly, Micrognathia, Micromelia, Microphthalmia, Muscle cramps, Muscular dystrophy, Nystagmus, Opisthotonus, Pachygyria, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Polymicrogyria, Proptosis, Pterygium, Pulmonary hypoplasia, Radial deviation of finger, Renal agenesis, Rocker bottom foot, Seizures, Short neck, Short umbilical cord, Skeletal muscle atrophy, Sloping forehead, Small placenta, Spastic tetraplegia, Spina bifida, Stillbirth, Thick lower lip vermilion, Thick vermilion border, Thrombocytopenia, Toe syndactyly, Transposition of the great arteries, Trismus, Ventricular septal defect, Yellow subcutaneous tissue covered by thin, scaly skin
U2	FAP	3.600418453	4.07E-14	Serine protease	BrainSpLMD|2191;Eurexp|euxassay_015530|anterior abdominal wall, axial muscle, axial skeleton, body-wall mesenchyme, brain, central nervous system, dermis, diaphragm, epithelium, ethmoid bone primordium, facial bones primordia, gut, head mesenchyme, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lens, mesenchyme, mesothelium, nasal capsule, nasal cavity, nasal septum, olfactory, optic foramen, orbital fissure, orbito-sphenoid, paraxial mesenchyme, parietal, pectoral girdle and thoracic body wall, pelvic girdle, pericardial cavity, peritoneal cavity, physiological umbilical hernia, pleuro-pericardial folds, skeletal muscle, trunk mesenchyme, turbinate, vertebral axis muscle system, visceral, viscerocranium	OMIM|600403
U2	ZIC4	3.078716758	4.10E-14	DNA binding protein	BrainSpLMD|84107;BrainSpMouseDev|22531	OMIM|608948
U2	COL8A2	2.535455365	4.14E-14	Extracellular matrix protein	BrainSpLMD|1296	OMIM|120252;HPO|1296|Autosomal dominant inheritance, Corneal degeneration, Corneal dystrophy, Corneal guttata, Corneal opacity, Corneal stromal edema, Descemet Membrane Folds
U2	TRIM59	1.136811757	4.56E-14	Ubiquitin proteasome system protein		OMIM|616148
U2	GHR	2.853038459	4.71E-14	Cell surface receptor	BrainSpLMD|2690	OMIM|600946;HPO|2690|Abnormal facial shape, Abnormal joint morphology, Abnormality of metabolism/homeostasis, Abnormality of the elbow, Aplasia/Hypoplasia involving the nose, Autosomal recessive inheritance, Brachydactyly, Decreased serum insulin-like growth factor 1, Delayed eruption of teeth, Delayed menarche, Delayed puberty, Delayed skeletal maturation, High forehead, High pitched voice, Hypoglycemia, Hypoplasia of penis, Hypoplastic nasal bridge, Microdontia, Micrognathia, Motor delay, Reduced number of teeth, Severe short stature, Short long bone, Short stature, Short toe, Small face, Truncal obesity, Underdeveloped supraorbital ridges
U2	KIF14	1.594441743	4.94E-14	Motor protein	BrainSpLMD|9928	OMIM|611279;HPO|9928|Agenesis of corpus callosum, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral hypoplasia, Intrauterine growth retardation, Microcephaly, Oligohydramnios, Renal agenesis, Renal hypoplasia, Rocker bottom foot, Sloping forehead
U2	LTBP1	1.778189458	5.04E-14	Extracellular matrix protein	BrainSpLMD|4052	OMIM|150390
U2	LDHA	1.572465742	5.32E-14	Enzyme: Dehydrogenase	BrainSpLMD|3939	OMIM|150000;HPO|3939|Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise intolerance, Increased serum lactate, Increased serum pyruvate, Juvenile onset, Muscle cramps, Muscle stiffness, Myalgia, Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Rigidity
U2	PARVA	2.181094354	6.00E-14	Cytoskeletal associated protein	BrainSpLMD|55742	OMIM|608120
U2	CYBRD1	3.021044433	6.14E-14	Enzyme: Oxidoreductase	BrainSpLMD|79901;Eurexp|euxassay_009953|ventricular layer	OMIM|605745
U2	RBBP7	1.463944913	6.31E-14	Transcription regulatory protein	BrainSpLMD|5931;Eurexp|euxassay_011608|cranium, midgut, pelvis, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|300825
U2	FBXO5	1.882458521	7.29E-14	Cell cycle control protein	BrainSpLMD|26271;Eurexp|euxassay_012335|marginal layer, ventricular layer	OMIM|606013
U2	CIT	1.488621926	7.70E-14	Serine/threonine kinase	BrainSpLMD|11113;Eurexp|euxassay_014352|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, cervical region, clavicle, femur, fibula, humerus, hyoid bone, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, thyroid, tibia, turbinate bones, vault of skull;BrainSpMouseDev|12488	OMIM|605629;HPO|11113|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Bulbous nose, Cerebellar hypoplasia, Congenital onset, Cortical gyral simplification, Failure to thrive, Global developmental delay, Heterotopia, Hyperreflexia, Hypertelorism, Hypoplasia of the brainstem, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Macrotia, Microcephaly, Pachygyria, Renal agenesis, Short stature, Sloping forehead, Spasticity, Thick vermilion border, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vesicoureteral reflux
U2	P4HA2	2.749465962	9.27E-14	Enzyme: Hydroxylase	BrainSpLMD|8974;Eurexp|euxassay_003346|Meckel's cartilage, axial skeleton, clavicle, molar, orbito-sphenoid, pectoral girdle and thoracic body wall, rib, turbinate	SFARI||Autism, 3 - Suggestive evidence;OMIM|600608;HPO|8974|Autosomal dominant inheritance, Severe Myopia
U2	FBLN5	2.76875004	9.38E-14	Extracellular matrix protein	BrainSpLMD|10516;Eurexp|euxassay_002515|aorta, body-wall mesenchyme, cervical region, clavicle, cranium, diaphragm, head mesenchyme, leg, lip, lumbar region, mandible, maxilla, mesenchyme, oesophagus, premaxilla, rib, sacral region, thoracic region, tongue, vibrissa	OMIM|604580;HPO|10516|Abnormality of the face, Aortic aneurysm, Arachnodactyly, Arterial fibromuscular dysplasia, Arterial stenosis, Atelectasis, Autosomal dominant inheritance, Autosomal recessive inheritance, Bladder diverticulum, Bowel diverticulosis, Choroidal neovascularization, Congenital diaphragmatic hernia, Cutis laxa, Delayed cranial suture closure, Dilatation of ascending aorta, Distal sensory impairment, Drusen, Emphysema, Full cheeks, Heterogeneous, Hypertelorism, Ileus, Inguinal hernia, Joint hyperflexibility, Joint laxity, Microcephaly, Mitral regurgitation, Oligohydramnios, Overgrowth, Pectus excavatum, Pes cavus, Premature skin wrinkling, Ptosis, Recurrent respiratory infections, Recurrent urinary tract infections, Redundant skin, Renal diverticulum, Scoliosis, Supravalvular aortic stenosis, Umbilical hernia, Vascular tortuosity
U2	HMGN2P3	0.909689958	1.02E-13			
U2	FGFR2	0.830836032	1.09E-13	Receptor tyrosine kinase	BrainSpLMD|2263;BrainSpMouseDev|13960	OMIM|176943;COSMIC||gastric, NSCLC, endometrial, Crouzon, Pfeiffer, and Apert syndromes;HPO|2263|2-3 finger syndactyly, 2-3 toe syndactyly, Abnormal facial shape, Abnormal heart morphology, Abnormal morphology of the limbic system, Abnormal renal morphology, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the cervical spine, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the palate, Abnormality of the pancreas, Abnormality of the periosteum, Abnormality of the pinna, Abnormality of the ribs, Absence of Stensen duct, Absent first metatarsal, Absent lacrimal punctum, Absent proximal phalanx of thumb, Absent radius, Absent septum pellucidum, Acanthosis nigricans, Acne, Acrobrachycephaly, Agenesis of corpus callosum, Alacrima, Anomalous tracheal cartilage, Anteriorly placed anus, Anteverted nares, Aplasia of the parotid gland, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Arachnodactyly, Arachnoid cyst, Arnold-Chiari malformation, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bicoronal synostosis, Bifid scrotum, Bifid uvula, Bilateral single transverse palmar creases, Bilateral triphalangeal thumbs, Blepharospasm, Brachycephaly, Brachydactyly, Brachyturricephaly, Breast carcinoma, Broad distal hallux, Broad distal phalanx of the thumb, Broad forehead, Broad hallux, Broad hallux phalanx, Broad metatarsal, Broad thumb, Bronchomalacia, Buphthalmos, Calcaneonavicular fusion, Camptodactyly, Camptodactyly of finger, Carious teeth, Cartilaginous trachea, Cerebellar hypoplasia, Cervical C5/C6 vertebrae fusion, Choanal atresia, Choanal stenosis, Chronic otitis media, Cleft of chin, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Cloverleaf skull, Conductive hearing impairment, Congenital stationary night blindness, Conical incisor, Conjunctivitis, Convex nasal ridge, Corneal perforation, Coronal craniosynostosis, Coronal hypospadias, Craniofacial dysostosis, Craniosynostosis, Cryptorchidism, Cupped ear, Cutaneous finger syndactyly, Dacryocystitis, Decreased calvarial ossification, Delayed cranial suture closure, Delayed eruption of primary teeth, Delayed eruption of teeth, Dental crowding, Dental malocclusion, Depressed nasal bridge, Deviation of the thumb, Dolichocephaly, Downslanted palpebral fissures, Dysgerminoma, Ectopic anus, Elbow ankylosis, Esophageal atresia, External ear malformation, Extramedullary hematopoiesis, Facial asymmetry, Feeding difficulties in infancy, Femoral bowing, Finger syndactyly, Flat face, Flat forehead, Frontal bossing, Fused labia minora, Gingival overgrowth, Global developmental delay, Growth abnormality, Hallux valgus, Hallux varus, Hearing abnormality, Hearing impairment, High forehead, High palate, Hirsutism, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hyperextensible skin, Hyperlordosis, Hypertelorism, Hypertension, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the lacrimal puncta, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplasia of the zygomatic bone, Hypoplastic ischia, Hypoplastic labia majora, Hypoplastic lacrimal duct, Incomplete ossification of pubis, Increased intracranial pressure, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Joint stiffness, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Lambdoidal craniosynostosis, Large fontanelles, Laryngomalacia, Limitation of joint mobility, Limited elbow extension, Long nose, Long philtrum, Low anterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Malar flattening, Mandibular prognathia, Megalencephaly, Megalocornea, Melanocytic nevus, Metopic depression, Micrognathia, Microtia, Midface retrusion, Mixed hearing impairment, Morphological abnormality of the semicircular canal, Multiple suture craniosynostosis, Narrow chest, Narrow internal auditory canal, Narrow nose, Narrow palate, Narrow pelvis bone, Nasolacrimal duct obstruction, Natal tooth, Nephrosclerosis, Open bite, Optic atrophy, Osteopenia, Overfolding of the superior helices, Overriding aorta, Oxycephaly, Palmoplantar cutis gyrata, Palmoplantar cutis laxa, Palmoplantar keratoderma, Parietal foramina, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of the distal phalanx of the 3rd finger, Partial duplication of thumb phalanx, Periorbital fullness, Plagiocephaly, Posterior fossa cyst, Preauricular skin furrow, Preaxial polydactyly, Prominent crus of helix, Prominent nasal bridge, Prominent scrotal raphe, Proptosis, Ptosis, Pyloric stenosis, Radial deviation of the 3rd finger, Radioulnar synostosis, Recurrent corneal erosions, Reduced number of teeth, Renal agenesis, Respiratory distress, Rocker bottom foot, Sagittal craniosynostosis, Seizures, Shallow orbits, Short clavicles, Short foot, Short hallux, Short metatarsal, Short middle phalanx of toe, Short nose, Short palm, Short stature, Shortening of all middle phalanges of the fingers, Skull asymmetry, Sleep apnea, Small hand, Small nail, Small thenar eminence, Somatic mutation, Steep acetabular roof, Stenosis of the external auditory canal, Stomach cancer, Strabismus, Subcutaneous nodule, Syndactyly, Synostosis of carpal bones, Telecanthus, Toe syndactyly, Tracheomalacia, Turricephaly, Ulnar bowing, Underdeveloped supraorbital ridges, Upper airway obstruction, Vaginal atresia, Variable expressivity, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide anterior fontanel, Xerostomia
U2	UBE2T	1.466623771	1.10E-13	Ubiquitin proteasome system protein	BrainSpLMD|29089;Eurexp|euxassay_004872|olfactory, respiratory, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|610538;HPO|29089|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bone marrow hypocellularity, Duplication of thumb phalanx, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pancytopenia, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Thrombocytopenia
U2	MNS1	1.09547347	1.15E-13	Structural protein	BrainSpLMD|55329	OMIM|610766
U2	PYCR1	1.523898305	1.16E-13	Enzyme: Oxidoreductase	Eurexp|euxassay_006989|axial skeleton, clavicle, mandible, maxilla, nasal septum, orbito-sphenoid, otic capsule, paraxial mesenchyme, petrous part, rib, skeleton, turbinate bones	OMIM|179035;HPO|5831|Agenesis of corpus callosum, Autosomal recessive inheritance, Beaking of vertebral bodies, Biconcave vertebral bodies, Blepharophimosis, Blue sclerae, Bowing of the long bones, Broad forehead, Congenital glaucoma, Congenital hip dislocation, Cryptorchidism, Cutis laxa, Deeply set eye, Delayed speech and language development, Dermal translucency, Downslanted palpebral fissures, Elbow flexion contracture, Excessive wrinkled skin, Failure to thrive, Fine hair, Frontal bossing, Gastroesophageal reflux, Global developmental delay, Hip dislocation, Hydrocephalus, Hyperextensible skin, Hypertelorism, Inguinal hernia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Large fontanelles, Malar flattening, Microcephaly, Midface retrusion, Muscular hypotonia, Narrow nasal ridge, Osteopenia, Osteoporosis, Posteriorly rotated ears, Prominent forehead, Prominent superficial veins, Protruding ear, Recurrent fractures, Redundant skin, Scoliosis, Severe short stature, Sparse hair, Thin skin, Thin vermilion border, Triangular face, Vertebral compression fractures
U2	NPM1	0.72592716	1.16E-13	Chaperone	BrainSpLMD|4869;Eurexp|euxassay_005708|embryo	OMIM|164040;COSMIC||NHL, APL, AML
U2	HAS2	2.124584569	1.25E-13	Enzyme: Glycosyltransferase	BrainSpLMD|3037	OMIM|601636
U2	WNT5A	1.258629518	1.29E-13	Ligand	BrainSpLMD|7474;BrainSpMouseDev|22175	OMIM|164975;HPO|7474|Anteverted nares, Autosomal dominant inheritance, Bifid distal phalanx of toe, Bifid tongue, Brachydactyly, Broad thumb, Broad toe, Clinodactyly, Clinodactyly of the 5th finger, Clitoral hypoplasia, Cryptorchidism, Curly eyelashes, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Downturned corners of mouth, Duplication of the distal phalanx of hand, Epicanthus, Euryblepharon, Flat face, Frontal bossing, Gingival overgrowth, Global developmental delay, Hemivertebrae, High, narrow palate, Hydronephrosis, Hypertelorism, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic labia minora, Inguinal hernia, Intellectual disability, Long eyelashes, Long palpebral fissure, Long philtrum, Macrocephaly, Macroglossia, Malar flattening, Median cleft lip and palate, Mesomelia, Micrognathia, Micromelia, Micropenis, Midface retrusion, Nevus flammeus, Open bite, Pectus excavatum, Posteriorly rotated ears, Prominent forehead, Proptosis, Radial deviation of finger, Renal duplication, Retrognathia, Right ventricular outlet obstruction, Severe short stature, Short hard palate, Short middle phalanx of the 5th finger, Short nose, Short palm, Thin upper lip vermilion, Triangular mouth, Umbilical hernia, Upslanted palpebral fissure, Wide anterior fontanel, Wide nasal bridge, Wide nose
U2	COL21A1	2.659195208	1.53E-13	Extracellular matrix protein	BrainSpLMD|81578	OMIM|610002
U2	CORIN	3.985731784	1.60E-13	Serine protease	BrainSpLMD|10699;Eurexp|euxassay_011008|floor plate, floorplate, lip	OMIM|605236;HPO|10699|Autosomal dominant inheritance, Eclampsia, Preeclampsia
U2	GJA1	2.745893399	1.66E-13	Membrane transport protein	BrainSpLMD|2697;BrainSpMouseDev|14385	OMIM|121014;HPO|2697|2-4 toe cutaneous syndactyly, 3-4 toe syndactyly, 4-5 finger syndactyly, Abnormal blistering of the skin, Abnormal cortical bone morphology, Abnormality of dental enamel, Abnormality of dental morphology, Abnormality of the cerebral white matter, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormality of the nasopharynx, Abnormality of the thorax, Absent middle phalanx of 5th finger, Alopecia, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the middle phalanges of the hand, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Basal ganglia calcification, Blepharophimosis, Bony paranasal bossing, Brachycephaly, Broad alveolar ridges, Broad columella, Broad long bones, Camptodactyly of finger, Carious teeth, Cataract, Cerebral calcification, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Club-shaped distal femur, Coarse facial features, Conductive hearing impairment, Congenital alopecia totalis, Congestive heart failure, Cranial hyperostosis, Craniofacial hyperostosis, Cubitus valgus, Curly hair, Cutaneous photosensitivity, Cyanosis, Delayed eruption of permanent teeth, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Depressed nasal bridge, Diabetes mellitus, Downslanted palpebral fissures, Dry hair, Dry skin, Dysarthria, Dystrophic fingernails, Epicanthus, Epidermal acanthosis, Erythema, External ear malformation, Facial hyperostosis, Facial palsy, Failure to thrive, Fifth finger distal phalanx clinodactyly, Fine hair, Finger syndactyly, Fingernail dysplasia, First degree atrioventricular block, Flared metaphysis, Fragile nails, Frontal bossing, Gait disturbance, Generalized hyperkeratosis, Glaucoma, High forehead, High-grade hypermetropia, Hip dislocation, Hyperactive deep tendon reflexes, Hypergranulosis, Hypermelanotic macule, Hyperreflexia, Hypertelorism, Hypoplasia of dental enamel, Hypoplasia of teeth, Hypoplasia of the maxilla, Hypoplastic aortic arch, Hypoplastic left heart, Hypotelorism, Hypotrichosis, Infantile onset, Inlet ventricular septal defect, Intellectual disability, Joint contracture of the 5th finger, Large earlobe, Long nose, Long philtrum, Low-set ears, Macrocephaly, Macrodontia of permanent maxillary central incisor, Mandibular prognathia, Median cleft lip, Metaphyseal dysplasia, Microcephaly, Microcornea, Microdontia, Micrognathia, Microphthalmia, Mild global developmental delay, Mixed hearing impairment, Muscle weakness, Myopia, Nail dysplasia, Narrow mouth, Narrow nasal bridge, Narrow nose, Nasal obstruction, Neurogenic bladder, Optic atrophy, Osteopetrosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Paraparesis, Patchy palmoplantar keratoderma, Patchy sclerosis of finger phalanx, Persistent pupillary membrane, Phenotypic variability, Premature loss of primary teeth, Premature loss of teeth, Primum atrial septal defect, Prominent epicanthal folds, Pulmonary arterial hypertension, Reduced number of teeth, Seizures, Selective tooth agenesis, Short 5th finger, Short foot, Short middle phalanx of the 5th finger, Short nose, Short palpebral fissure, Short stature, Skeletal dysplasia, Skin rash, Slow-growing hair, Small hand, Sparse eyelashes, Sparse hair, Spastic paraparesis, Spasticity, Telecanthus, Tetraparesis, Thin anteverted nares, Thin vermilion border, Toe syndactyly, Underdeveloped nasal alae, Vertebral hyperostosis, Visual impairment, Weight loss, Wide nasal bridge
U2	TPI1	0.955905273	1.84E-13	Enzyme: Isomerase	BrainSpLMD|7167	OMIM|190450;HPO|7167|Abnormality of immune system physiology, Autosomal recessive inheritance, Central nervous system degeneration, Cholecystitis, Cholelithiasis, Chronic hemolytic anemia, Congestive heart failure, Diaphragmatic paralysis, Dystonia, Generalized hypotonia, Global developmental delay, Hemolytic anemia, Hyporeflexia, Jaundice, Kyphosis, Muscular hypotonia, Myopathy, Normochromic anemia, Normocytic anemia, Peripheral neuropathy, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Splenomegaly, Tremor, Unsteady gait
U2	MYADM	1.322813693	1.86E-13	Unclassified	BrainSpLMD|91663;Eurexp|euxassay_004288|femur, footplate, forelimb, hindlimb, mesenchyme, tail	OMIM|609959
U2	TMEM106C	1.633437073	1.86E-13	Unclassified	BrainSpLMD|79022	
U2	PLEC	0.987739755	1.88E-13	Anchor protein	BrainSpLMD|5339	OMIM|601282;HPO|5339|Abnormal blistering of the skin, Abnormality of dental enamel, Abnormality of the genitourinary system, Abnormality of the stomach, Alopecia, Anemia, Anonychia, Aphasia, Aplasia cutis congenita, Aplasia of the bladder, Arthrogryposis multiplex congenita, Atrophic scars, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary pterygia, Bruising susceptibility, Carious teeth, Congenital onset, Congenital pyloric atresia, Death in infancy, Deeply set eye, Dehydration, Dermal atrophy, Difficulty climbing stairs, Dysphagia, Dysphasia, Echolalia, Ectropion, Elevated maternal serum alpha-fetoprotein, Elevated serum creatine phosphokinase, Esophageal atresia, Failure to thrive, Flexion contracture, Fragile skin, Generalized muscle weakness, Glomerulosclerosis, Gowers sign, Hydronephrosis, Hyperconvex fingernails, Hypoplasia of dental enamel, Hypoplastic fingernail, Increased connective tissue, Intractable diarrhea, Junctional split, Keratitis, Limitation of joint mobility, Lumbar hyperlordosis, Microtia, Milia, Motor delay, Muscle flaccidity, Muscular dystrophy, Mutism, Myopathy, Nail dysplasia, Nail dystrophy, Neonatal respiratory distress, Oculomotor nerve palsy, Onychogryposis of toenails, Ophthalmoplegia, Oral mucosal blisters, Palmoplantar hyperkeratosis, Papule, Plantar hyperkeratosis, Polyhydramnios, Premature birth, Ptosis, Punctate keratitis, Rapidly progressive, Renal dysplasia, Scarring alopecia of scalp, Sepsis, Short stature, Skeletal muscle atrophy, Skin erosion, Skin fragility with non-scarring blistering, Skin vesicle, Thick nail, Underdeveloped nasal alae, Ureterocele, Urethral stricture
U2	EDNRA	1.707051757	1.98E-13	G protein coupled receptor	BrainSpLMD|1909	OMIM|131243;HPO|1909|Autosomal dominant inheritance, Cleft palate, Conductive hearing impairment, Cupped ear, Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Facial asymmetry, Hypoplasia of the maxilla, Low-set ears, Mandibulofacial dysostosis, Micrognathia, Protruding ear, Sparse and thin eyebrow, Sparse eyelashes, Stenosis of the external auditory canal, Trismus, Wide nasal bridge
U2	CENPI	2.152171353	2.04E-13	Unclassified	BrainSpLMD|2491	OMIM|300065
U2	TRIP13	2.573878695	2.05E-13	ATPase	BrainSpLMD|9319;Eurexp|euxassay_019567|axial skeleton, incisor, liver, lung, metanephros, midgut, molar, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa;BrainSpMouseDev|45557	OMIM|604507;HPO|9319|Abnormality of vision, Ascites, Cataract, Corneal opacity, Dandy-Walker malformation, Epicanthus, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Polyhydramnios, Short stature, Triangular face
U2	KIF20B	1.335084061	2.07E-13	Cell cycle control protein	BrainSpLMD|9585	OMIM|605498
U2	FKBP7	1.942911713	2.10E-13	Calcium binding protein	BrainSpLMD|51661;Eurexp|euxassay_002949|Meckel's cartilage, axial skeleton, chondrocranium, incisor, molar, orbito-sphenoid, rib	OMIM|607062
U2	MAGT1	1.837519402	2.13E-13	Unclassified	BrainSpLMD|84061	OMIM|300715;HPO|84061|Decreased T cell activation, Decreased number of CD4+ T cells, Immunodeficiency, Lymphoma, Recurrent viral infections, X-linked inheritance
U2	NCAPD2	1.57612663	2.23E-13	DNA binding protein	BrainSpLMD|9918;Eurexp|euxassay_005651|embryo	OMIM|615638
U2	HIST1H1B	1.61639349	2.25E-13	DNA binding protein	BrainSpLMD|3009;Eurexp|euxassay_012857|marginal layer, ventricular layer	OMIM|142711
U2	EFEMP2	2.235081123	2.25E-13	Extracellular matrix protein	BrainSpLMD|30008	OMIM|604633;HPO|30008|Abnormality of the pinna, Aortic aneurysm, Aortic dilatation, Arachnodactyly, Arterial fibromuscular dysplasia, Arterial stenosis, Arterial tortuosity, Atelectasis, Autosomal recessive inheritance, Bladder diverticulum, Bulbous nose, Congenital diaphragmatic hernia, Cutis laxa, Delayed cranial suture closure, Downslanted palpebral fissures, Emphysema, Full cheeks, Generalized arterial tortuosity, Generalized hypotonia, High palate, Hypertelorism, Ileus, Inguinal hernia, Joint hyperflexibility, Joint hypermobility, Low-set ears, Microcephaly, Micrognathia, Narrow palpebral fissure, Pectus excavatum, Premature skin wrinkling, Prominence of the premaxilla, Prominent forehead, Proptosis, Ptosis, Pulmonary artery aneurysm, Pulmonary artery dilatation, Pulmonary insufficiency, Recurrent urinary tract infections, Redundant skin, Renal diverticulum, Soft skin
U2	KIF22	1.636348963	2.39E-13	DNA binding protein	BrainSpLMD|3835	OMIM|603213;HPO|3835|Abnormal calcification of the carpal bones, Abnormality of the patella, Abnormality of the sacrum, Anteverted nares, Autosomal dominant inheritance, Broad distal phalanx of finger, Carpal bone hypoplasia, Caudal interpedicular narrowing, Congenital hip dislocation, Delayed patellar ossification, Delayed phalangeal epiphyseal ossification, Depressed nasal bridge, Dislocated radial head, Enlarged thorax, Flared metaphysis, Flat capital femoral epiphysis, Frontal bossing, Generalized hypotonia, Genu valgum, Global developmental delay, Hip dislocation, Hypoplasia of the capital femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Joint laxity, Kyphosis, Large joint dislocations, Laryngeal stenosis, Laryngotracheomalacia, Long distal phalanx of finger, Long proximal phalanx of finger, Macrocephaly, Malar flattening, Metaphyseal irregularity, Micromelia, Midface retrusion, Nail dysplasia, Narrow femoral neck, Osteoarthritis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Short nose, Short stature, Skeletal dysplasia, Slender distal phalanx of finger, Slender metacarpals, Slender proximal phalanx of finger, Small epiphyses, Soft skin, Spinal dysraphism, Spondyloepimetaphyseal dysplasia, Streaky metaphyseal sclerosis, Wide nose
U2	CYTL1	3.154703859	2.54E-13	Cytokine	BrainSpLMD|54360;Eurexp|euxassay_008467|Meckel's cartilage, aorta, arytenoid, axial skeleton, basioccipital bone, basisphenoid bone, carpus, cartilaginous ring, clavicle, cricoid, femur, fibula, humerus, hyoid bone, metacarpus, metatarsus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, rib, scapula, thyroid, tibia, turbinate bones	OMIM|607930
U2	NRP2	1.307158991	2.69E-13	Cell surface receptor	BrainSpLMD|8828;Eurexp|euxassay_009620|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V;BrainSpMouseDev|17954	SFARI||Autism, 4 - Minimal evidence;OMIM|602070
U2	MND1	1.28145639	2.71E-13	Unclassified	BrainSpLMD|84057	OMIM|611422
U2	SOSTDC1	2.186353622	2.76E-13	Unclassified	BrainSpLMD|25928;Eurexp|euxassay_001643|bladder, calyces, cervico-thoracic, choroid plexus, dorsal root ganglion, epidermis, facial VII, glossopharyngeal IX, head mesenchyme, incisor, lateral recess, lip, mesenchyme, nucleus pulposus, oesophagus, olfactory, oral epithelium, pelvis, penis, pharyngo-tympanic tube, submandibular gland primordium, testis, thoracic, tongue, trachea, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|41885	OMIM|609675
U2	SSPN	2.88192002	2.85E-13	Integral membrane protein	BrainSpLMD|8082	OMIM|601599
U2	CERKL	2.640462927	3.15E-13	Lipid Kinase	BrainSpLMD|375298	OMIM|608381;HPO|375298|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Attenuation of retinal blood vessels, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Undetectable light- and dark-adapted electroretinogram, Visual impairment, Wide nasal bridge
U2	LEPRE1	1.673781723	3.32E-13			
U2	PRC1	1.54750147	3.59E-13	Cell cycle control protein	BrainSpLMD|9055	OMIM|603484
U2	NCAPG2	1.657927275	3.61E-13	Unclassified	BrainSpLMD|54892;Eurexp|euxassay_002384|axial muscle, epithelium, lobe, olfactory, ventricular layer	OMIM|608532
U2	KIF4A	2.016111975	3.90E-13	DNA binding protein	BrainSpLMD|24137;Eurexp|euxassay_017959|Meckel's cartilage, chondrocranium, incisor, nasal capsule	OMIM|300521;HPO|24137|Abnormal facial shape, Intellectual disability, Poor speech, Seizures, X-linked recessive inheritance
U2	BARD1	1.647129591	4.16E-13	Transcription regulatory protein	BrainSpLMD|580	OMIM|601593;COSMIC||breast cancer, ovarian cancer, breast cancer, endometrioid cancer;HPO|580|Abnormality of the fallopian tube, Breast carcinoma, Ovarian neoplasm, Primary peritoneal carcinoma
U2	CRTAP	1.725153717	4.21E-13	Unclassified	BrainSpLMD|10491	OMIM|605497;HPO|10491|Absent pulmonary artery, Autosomal recessive inheritance, Blue sclerae, Bowing of the legs, Breech presentation, Coxa vara, Crumpled long bones, Death in infancy, Decreased calvarial ossification, Delayed cranial suture closure, Externally rotated/abducted legs, Hydronephrosis, Hypoplastic pulmonary veins, Long philtrum, Micromelia, Multiple prenatal fractures, Multiple rib fractures, Narrow chest, Osteopenia, Pectus excavatum, Proptosis, Protrusio acetabuli, Recurrent fractures, Rhizomelia, Round face, Scoliosis, Vertebral compression fractures, Wide anterior fontanel, Wide cranial sutures, Wormian bones
U2	PTPN14	2.401576995	4.53E-13	Tyrosine phosphatase	BrainSpLMD|5784;Eurexp|euxassay_009623|axial skeleton, metanephros, nasal septum, oesophagus, submandibular gland primordium, vibrissa	OMIM|603155;HPO|5784|Autosomal recessive inheritance, Choanal atresia, High palate, Lymphedema, Pericardial effusion
U2	ADD3	1.992273589	4.90E-13	Cytoskeletal associated protein	BrainSpLMD|120;Eurexp|euxassay_002919|chondrocranium, epithelium, glandular mucous membrane, lumen, mantle layer, pancreas, ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|601568;HPO|120|Abnormal pyramidal signs, Autosomal recessive inheritance, Cognitive impairment, Dysphagia, Exotropia, Global developmental delay, Infantile onset, Microcephaly, Nystagmus, Poor speech, Spastic diplegia, Spastic tetraplegia, Supranuclear gaze palsy, Variable expressivity
U2	FCGRT	1.430982289	5.47E-13	Cell surface receptor	BrainSpLMD|2217;Eurexp|euxassay_011956|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones	OMIM|601437
U2	TES	2.097337017	5.53E-13	Secreted polypeptide	BrainSpLMD|26136;Eurexp|euxassay_004840|adenohypophysis, brain, dorsal root ganglion, extrinsic ocular muscle, facial VII, hindgut, humerus, incisor, left lung, loop, medullary stroma, midgut, molar, neural retina, oesophagus, pituitary, rectum, right lung, spinal cord, stomach, stroma, submandibular gland primordium, thymus primordium, trachea, trigeminal V, vagus X, vibrissa	OMIM|606085
U2	MECOM	2.313718846	5.80E-13	DNA binding protein	BrainSpLMD|2122	OMIM|165215;COSMIC||AML, CML, MDS;HPO|2122|Amegakaryocytic thrombocytopenia, Anemia, Autosomal dominant inheritance, Clinodactyly of the 5th finger, Congenital thrombocytopenia, Hydrocele testis, Limited pronation/supination of forearm, Neutropenia, Overlapping fingers, Radioulnar synostosis, Thrombocytopenia
U2	LY6E	0.414461641	5.93E-13	Unclassified	BrainSpLMD|4061;Eurexp|euxassay_010719|adrenal gland, liver, marginal layer, olfactory, thymus primordium, vertebral axis muscle system	OMIM|601384
U2	TCF7L2	1.382137922	6.78E-13	Transcription factor	BrainSpLMD|6934;Eurexp|euxassay_019472|lip, mantle layer, mesenchyme, midgut, pancreas, phalanx, skeletal muscle, sternum, stomach, trachea, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|21177	SFARI||Autism, 3 - Suggestive evidence;OMIM|602228;COSMIC||colorectal
U2	ITGA4	3.18523095	6.93E-13	Cell surface receptor	BrainSpLMD|3676;Eurexp|euxassay_018018|adenohypophysis, fundus region, left lung, mantle layer, right lung, urethra, ventral grey horn, ventricle;BrainSpMouseDev|16174	SFARI||Autism, 5 - Hypothesized but untested;OMIM|192975
U2	SCPEP1	2.671623697	7.41E-13	Carboxypeptidase	BrainSpLMD|59342;BrainSpMouseDev|50458	
U2	KIF18B	2.02552503	7.94E-13	Unclassified		OMIM|614570
U2	MTND1P23	0.307935085	8.33E-13			
U2	LMNA	1.216470311	8.70E-13	Structural protein	BrainSpLMD|4000;Eurexp|euxassay_000214|atrio-ventricular cushion tissue, mesenchyme, rest of skin	OMIM|150330;COSMIC||Spitzoid tumour, Muscular dystrophy, dilated cardiomyopathy, familial partial lipodystrophy, and others;HPO|4000|Abnormal atrioventricular conduction, Abnormal cellular phenotype, Abnormal electrophysiology of sinoatrial node origin, Abnormal hair whorl, Abnormal trabecular bone morphology, Abnormality of circulating leptin level, Abnormality of retinal pigmentation, Abnormality of the Achilles tendon, Abnormality of the cerebral vasculature, Abnormality of the eyebrow, Abnormality of the foot, Abnormality of the intrahepatic bile duct, Abnormality of the nail, Abnormality of the pinna, Abnormality of the pulmonary artery, Abnormality of the testis, Abnormality of the voice, Absence of pubertal development, Absence of subcutaneous fat, Absent eyebrow, Absent eyelashes, Acanthosis nigricans, Accelerated atherosclerosis, Achilles tendon contracture, Acroosteolysis of distal phalanges (feet), Acute pancreatitis, Adipose tissue loss, Adrenal hypoplasia, Advanced eruption of teeth, Alopecia, Alopecia universalis, Aminoaciduria, Angina pectoris, Aortic atherosclerosis, Aortic root dilatation, Aortic valve calcification, Aortic valve stenosis, Aplasia of the middle phalanx of the hand, Aplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Aplastic clavicles, Areflexia, Arrhythmia, Arteriosclerosis of small cerebral arteries, Arthrogryposis multiplex congenita, Atherosclerosis, Atrial fibrillation, Atrial flutter, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Axial muscle weakness, Axonal degeneration/regeneration, Basal cell carcinoma, Bilateral coxa valga, Bird-like facies, Blepharophimosis, Brachydactyly, Bradycardia, Broad-based gait, Calcinosis, Calf muscle hypertrophy, Choanal atresia, Chondrocalcinosis, Clinodactyly, Congenital muscular dystrophy, Congenital pseudoarthrosis of the clavicle, Congestive heart failure, Convex nasal ridge, Coronary artery disease, Coronary atherosclerosis, Craniofacial disproportion, Cyanosis, Decreased adiponectin level, Decreased calvarial ossification, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Decreased circulating high-density lipoprotein levels, Decreased fertility, Decreased fetal movement, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Decreased serum estradiol, Decreased serum leptin, Decreased skull ossification, Decreased testosterone in males, Delayed cranial suture closure, Delayed eruption of teeth, Delayed puberty, Dental crowding, Dermal atrophy, Dermal translucency, Diabetes mellitus, Difficulty climbing stairs, Difficulty walking, Dilated cardiomyopathy, Distal amyotrophy, Distal lower limb amyotrophy, Distal muscle weakness, Distal sensory impairment, Down-sloping shoulders, Downslanted palpebral fissures, EMG abnormality, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated serum creatine phosphokinase, Emphysema, Enlarged peripheral nerve, Entropion, Epidermal hyperkeratosis, Failure to thrive, Fasting hyperinsulinemia, Feeding difficulties, Flexion contracture, Foot dorsiflexor weakness, Fragile nails, Full cheeks, Gait disturbance, Generalized amyotrophy, Generalized hyperkeratosis, Generalized lipodystrophy, Generalized osteoporosis, Global developmental delay, Glucose intolerance, Glycosuria, Growth delay, Hepatic steatosis, Hepatomegaly, Heterogeneous, High palate, High pitched voice, Hirsutism, Hydropic placenta, Hypercholesterolemia, Hyperglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hyperkeratosis, Hyperlipidemia, Hyperlordosis, Hypermetropia, Hyperphosphatemia, Hypertelorism, Hypertension, Hypertriglyceridemia, Hypodontia, Hypogonadism, Hypogonadotrophic hypogonadism, Hypohidrosis, Hypoplasia of teeth, Hypoplastic facial bones, Hypoplastic nipples, Hyporeflexia, Hypospadias, Hypotrichosis, Increased adipose tissue around the neck, Increased anterioposterior diameter of thorax, Increased facial adipose tissue, Increased intraabdominal fat, Increased intramuscular fat, Infertility, Insulin resistance, Insulin-resistant diabetes mellitus, Intermittent claudication, Intervertebral disc degeneration, Intracranial hemorrhage, Intrauterine growth retardation, Joint stiffness, Juvenile onset, Keratoconjunctivitis sicca, Kyphoscoliosis, Kyphosis, Labial pseudohypertrophy, Lack of skin elasticity, Large fontanelles, Laryngomalacia, Limb muscle weakness, Limb-girdle muscle weakness, Limb-girdle muscular dystrophy, Limitation of joint mobility, Lipoatrophy, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Loss of truncal subcutaneous adipose tissue, Low-set ears, Macrotia, Malar flattening, Meningioma, Metaphyseal widening, Micrognathia, Midface retrusion, Mildly elevated creatine phosphokinase, Minimal subcutaneous fat, Mitral regurgitation, Mitral valve calcification, Motor delay, Mottled pigmentation, Multiple joint contractures, Muscle hypertrophy of the lower extremities, Muscular dystrophy, Muscular hypotonia, Myalgia, Myocardial infarction, Myopathy, Nail dysplasia, Narrow face, Narrow mouth, Narrow nasal ridge, Narrow nasal tip, Nasal speech, Natal tooth, Neck muscle weakness, Neoplasm of the breast, Neoplasm of the lung, Neoplasm of the oral cavity, Neoplasm of the skin, Neoplasm of the small intestine, Neoplasm of the thyroid gland, Onion bulb formation, Onset, Osteoarthritis, Osteolysis, Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the phalanges of the hand, Osteopenia, Osteoporosis, Osteosarcoma, Ovarian neoplasm, Overtubulated long bones, Ovoid vertebral bodies, Papillary renal cell carcinoma, Patchy hypo- and hyperpigmentation, Patent ductus arteriosus, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Pericardial effusion, Peripheral arterial stenosis, Peripheral axonal atrophy, Peroneal muscle atrophy, Peroneal muscle weakness, Pes cavus, Pes planus, Pili torti, Polycystic ovaries, Polyhydramnios, Poor head control, Postnatal growth retardation, Precocious atherosclerosis, Precocious puberty, Premature arteriosclerosis, Premature birth, Premature coronary artery disease, Premature delivery because of cervical insufficiency or membrane fragility, Premature graying of hair, Premature loss of teeth, Premature ovarian insufficiency, Premature rupture of membranes, Premature skin wrinkling, Primary atrial arrhythmia, Progeroid facial appearance, Progressive, Progressive clavicular acroosteolysis, Prolonged prothrombin time, Prominent forehead, Prominent scalp veins, Prominent superficial blood vessels, Prominent superficial veins, Proptosis, Proximal muscle weakness, Proximal upper limb muscle hypertrophy, Ptosis, Pulmonary carcinoid tumor, Pulmonary hypoplasia, Reduced subcutaneous adipose tissue, Renal neoplasm, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Restricted neck movement due to contractures, Reticulated skin pigmentation, Retinal degeneration, Retrognathia, Rocker bottom foot, Round face, Scaling skin, Scapular winging, Scleroderma, Sclerosis of hand bone, Secondary amenorrhea, Sensorineural hearing impairment, Severe muscular hypotonia, Short clavicles, Short distal phalanx of finger, Short nail, Short palm, Short palpebral fissure, Short stature, Short umbilical cord, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Skin erosion, Skin ulcer, Slow progression, Small placenta, Sparse and thin eyebrow, Sparse body hair, Sparse eyebrow, Sparse eyelashes, Sparse hair, Sparse or absent eyelashes, Sparse scalp hair, Spinal rigidity, Squamous cell carcinoma of the skin, Steppage gait, Stiff skin, Stillbirth, Structural foot deformity, Subcutaneous calcification, Submucous cleft hard palate, Sudden cardiac death, Supraventricular arrhythmia, Syndactyly, Talipes, Tapering pointed ends of distal finger phalanges, Telangiectasia of the skin, Telecanthus, Temporomandibular joint ankylosis, Thin bony cortex, Thin clavicles, Thin nail, Thin ribs, Thin skin, Thin vermilion border, Thrombocytosis, Type II diabetes mellitus, Upper limb muscle weakness, Ureteral duplication, Variable expressivity, Ventricular arrhythmia, Ventricular hypertrophy, White forelock, Wide nasal bridge, Widely patent fontanelles and sutures, Wormian bones, X-linked inheritance, Xanthomatosis
U2	KIAA1217	1.687689857	8.97E-13	Unclassified	BrainSpLMD|56243;Eurexp|euxassay_002039|ventricular layer	OMIM|617367
U2	RP11.673C5.1	1.087051722	8.99E-13			
U2	LPP	1.538478133	9.69E-13	Unclassified	BrainSpLMD|4026	OMIM|600700;COSMIC||lipoma, leukaemia
U2	CEP152	1.569007035	9.78E-13	Unclassified	Eurexp|euxassay_011313|axial skeleton, basioccipital bone, choroid invagination, choroid plexus, epithelium, femur, humerus, inner ear, olfactory, pelvic girdle, pituitary, roof plate, scapula, vomeronasal organ	OMIM|613529;HPO|22995|Abnormal cortical bone morphology, Abnormal cortical gyration, Abnormality of dental enamel, Absent earlobe, Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Bimanual synkinesia, Cachexia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Heterotopia, High palate, Hip dysplasia, Hyperreflexia, Hypodontia, Hypoplasia of the frontal lobes, Impulsivity, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint hyperflexibility, Large beaked nose, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Oligodontia, Pachygyria, Prematurely aged appearance, Prominent nasal bridge, Reduced number of teeth, Retrognathia, Sandal gap, Short stature, Sloping forehead, Sparse scalp hair, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
U2	RACGAP1	1.622025004	1.13E-12	GTPase activating protein	BrainSpLMD|29127;Eurexp|euxassay_005572|dorsal grey horn, ventricular layer	OMIM|604980
U2	IGFBP5	0.681380976	1.17E-12	Adhesion molecule	BrainSpLMD|3488;Eurexp|euxassay_001623|limb, tail, vertebral axis muscle system;BrainSpMouseDev|15784	OMIM|146734
U2	STAT1	1.698307475	1.22E-12	Transcription factor	BrainSpLMD|6772;Eurexp|euxassay_004660|axial muscle, mantle layer, skeletal muscle, thymus primordium;BrainSpMouseDev|20608	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600555;HPO|6772|Arterial calcification, Autoimmune hemolytic anemia, Autosomal dominant inheritance, Autosomal recessive inheritance, B lymphocytopenia, Bronchiectasis, Carotid artery dilatation, Chronic mucocutaneous candidiasis, Delayed puberty, Delayed skeletal maturation, Diarrhea, Dilatation of the cerebral artery, Eczema, Enterocolitis, Functional abnormality of the bladder, Generalized osteoporosis, Hepatosplenomegaly, Herpes simplex encephalitis, Immune dysregulation, Immunodeficiency, Incomplete penetrance, Lymphopenia, Osteopenia, Phenotypic variability, Primary hypothyroidism, Recurrent mycobacterial infections, Recurrent respiratory infections, Recurrent upper respiratory tract infections, Renal artery stenosis, Renovascular hypertension, Short stature, Susceptibility to herpesvirus, Thyroiditis, Type I diabetes mellitus, Villous atrophy
U2	SPTY2D1	0.414200113	1.40E-12	Unclassified	BrainSpLMD|144108	
U2	SUMO2P17	1.930675128	1.43E-12			
U2	TENM3	1.591751925	1.51E-12	Integral membrane protein	BrainSpMouseDev|23716	OMIM|610083;HPO|55714|Autosomal recessive inheritance, Esotropia, Iris coloboma, Microcornea, Microphthalmia, Pendular nystagmus, Reduced visual acuity, Retinal detachment, Visual impairment
U2	RHOC	1.566495737	1.53E-12	GTPase	BrainSpLMD|389	OMIM|165380
U2	IL6ST	1.464498072	1.53E-12	Cytokine receptor	BrainSpLMD|3572;BrainSpMouseDev|15968	OMIM|600694;COSMIC||hepatocellular carcinoma
U2	OAT	1.312962089	1.58E-12	Enzyme: Aminotransferase	BrainSpLMD|4942	OMIM|613349;HPO|4942|Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Blindness, Chorioretinal atrophy, EMG abnormality, Myopia, Nyctalopia, Posterior subcapsular cataract, Proximal muscle weakness
U2	PDIA4	0.813855855	1.71E-12	Chaperone	BrainSpLMD|9601;Eurexp|euxassay_000803|basal plate, telencephalon, ventricular layer	
U2	HIST1H1C	0.372198295	1.87E-12	DNA binding protein	BrainSpLMD|3006;Eurexp|euxassay_015954|ventricular layer	OMIM|142710
U2	ATAD2	1.337925616	2.07E-12	ATPase	BrainSpLMD|29028;Eurexp|euxassay_012771|ventricular layer	OMIM|611941
U2	SPDL1	1.277157434	2.17E-12	Unclassified	BrainSpLMD|54908;Eurexp|euxassay_003300|axial muscle, glomeruli, incisor, left, mantle layer, marginal layer, molar, pancreas, right, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|616401
U2	DNAJB4	1.435066254	2.17E-12	Heat shock protein	BrainSpLMD|11080	OMIM|611327
U2	VGLL3	2.209217252	2.19E-12	Unclassified	BrainSpLMD|389136	OMIM|609980
U2	AP2S1	0.541724012	2.25E-12	Adapter molecule	BrainSpLMD|1175	OMIM|602242;HPO|1175|Autosomal dominant inheritance, Bone pain, Chondrocalcinosis, Hypercalcemia, Hypermagnesemia, Hypocalciuria, Hypophosphatemia, Multiple lipomas, Osteomalacia, Pancreatitis, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyperparathyroidism
U2	HIF3A	1.024778164	2.43E-12	Transcription factor	BrainSpLMD|64344;BrainSpMouseDev|32897	OMIM|609976
U2	GSTM1	2.587704031	2.45E-12	Enzyme: Glutathione transferase	BrainSpLMD|2944	SFARI||Autism, 4 - Minimal evidence;OMIM|138350
U2	GAS1	1.932521596	2.49E-12	Cell cycle control protein	BrainSpLMD|2619;BrainSpMouseDev|14227	OMIM|139185
U2	AC116366.6	1.879743222	2.52E-12			
U2	KCNQ1OT1	1.034187166	2.63E-12			OMIM|604115;HPO|10984|Abnormality of the dentition, Accelerated skeletal maturation, Adrenocortical carcinoma, Adrenocortical cytomegaly, Asymmetry of the thorax, Autosomal dominant inheritance, Cardiomegaly, Cardiomyopathy, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Diastasis recti, Enlarged kidney, Facial asymmetry, Gonadoblastoma, Hemihypertrophy, Hepatoblastoma, Hepatomegaly, Intellectual disability, mild, Large fontanelles, Macroglossia, Midface retrusion, Neonatal hypoglycemia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Omphalocele, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Posterior helix pit, Prominent metopic ridge, Prominent occiput, Proptosis, Renal cortical cysts, Scoliosis, Vesicoureteral reflux
U2	GTSE1	1.710322379	2.69E-12	Unclassified	BrainSpLMD|51512	OMIM|607477
U2	SAMD4A	0.782845337	3.09E-12	Unclassified	BrainSpLMD|23034	OMIM|610747
U2	ARHGAP24	2.219552654	3.35E-12	GTPase activating protein	BrainSpLMD|83478;Eurexp|euxassay_003218|Meckel's cartilage, axial skeleton, basal plate, calyces, choroid plexus, cranium, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral recess, lobe, molar, orbito-sphenoid, pons, rib, trigeminal V, turbinate bones, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	SFARI||Autism, 5 - Hypothesized but untested;OMIM|610586
U2	TPM4	0.814030629	3.37E-12	Cytoskeletal protein		OMIM|600317;COSMIC||ALCL
U2	PXDN	1.434848381	3.46E-12	Enzyme: Peroxidase		SFARI||Autism, No category;OMIM|605158;HPO|7837|Abnormality of the outer ear, Autosomal recessive inheritance, Sclerocornea
U2	10-Sep	1.577920155	3.64E-12			
U2	LAMB1	1.209135442	3.84E-12	Extracellular matrix protein	BrainSpLMD|3912;Eurexp|euxassay_011018|cochlea, incisor, lung, meninges, metanephros, midgut, molar, pharyngo-tympanic tube, renal/urinary system, sublingual gland primordium, submandibular gland primordium, vibrissa;BrainSpMouseDev|16549	SFARI||Autism, 3 - Suggestive evidence;OMIM|150240;HPO|3912|Abnormality of the cerebral white matter, Autosomal recessive inheritance, Cerebellar hypoplasia, Generalized hypotonia, Gray matter heterotopias, Hydrocephalus, Hypoplasia of the brainstem, Intellectual disability, Leukoencephalopathy, Macrocephaly, Muscular hypotonia, Occipital encephalocele, Porencephalic cyst, Progressive, Seizures, Severe global developmental delay, Spastic paraplegia, Type II lissencephaly, Variable expressivity
U2	DOCK5	2.706087045	3.92E-12	Unclassified	BrainSpLMD|80005;Eurexp|euxassay_014244|cortex	OMIM|616904
U2	CDKN1A	1.52643302	4.33E-12	Cell cycle control protein	BrainSpLMD|1026	OMIM|116899;COSMIC||bladder cancer;HPO|1026|Adrenocortical adenoma, Angiofibromas, Diarrhea, Elevated circulating parathyroid hormone level, Episodic abdominal pain, Esophagitis, Fasting hyperinsulinemia, Growth hormone excess, Hypercalcemia, Hyperinsulinemic hypoglycemia, Hyperparathyroidism, Insulinoma, Parathyroid adenoma, Parathyroid hyperplasia, Peptic ulcer, Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary prolactin cell adenoma, Subcutaneous lipoma, Thyroid adenoma, Zollinger-Ellison syndrome
U2	CENPN	1.545221704	4.35E-12	Unclassified	BrainSpLMD|55839	OMIM|611509
U2	SHCBP1	2.058253257	4.53E-12	Unclassified	BrainSpLMD|79801;Eurexp|euxassay_006012|submandibular gland primordium, ventricular layer	OMIM|611027
U2	E2F7	2.180350696	5.07E-12	Transcription factor	BrainSpLMD|144455;Eurexp|euxassay_011832|cortex, ventricular layer;BrainSpMouseDev|32159	OMIM|612046
U2	MYC	2.174070028	5.16E-12	Transcription factor	BrainSpLMD|4609;Eurexp|euxassay_018236|anterior, axial muscle, clavicle, corpus striatum, cortex, external, frontal bone primordium, mandible, marginal layer, maxilla, midgut, nasal septum, orbito-sphenoid, palatal shelf, pancreas, parietal bone, submandibular gland primordium, thymus primordium, vibrissa;BrainSpMouseDev|17636	OMIM|190080;COSMIC||Burkitt lymphoma, amplified in other cancers, B-CLL;HPO|4609|Abnormal lactate dehydrogenase activity, Burkitt lymphoma, Hyperuricemia, Neoplasm of the oral cavity, Sporadic
U2	AHI1	0.709114672	5.16E-12	Adapter molecule	BrainSpLMD|54806;Eurexp|euxassay_005590|brain, cervical, cervico-thoracic, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V;BrainSpMouseDev|32386	SFARI||Autism, No category;OMIM|608894;HPO|54806|Abnormal electroretinogram, Anteverted nares, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Central apnea, Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Enlarged fossa interpeduncularis, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Heterogeneous, Highly arched eyebrow, Intellectual disability, Long face, Low-set ears, Molar tooth sign on MRI, Motor delay, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nystagmus, Oculomotor apraxia, Open mouth, Pigmentary retinopathy, Ptosis, Retinal dystrophy, Stage 5 chronic kidney disease, Visual impairment, Wide nasal bridge
U2	ARL2	1.186829214	5.21E-12	GTPase		OMIM|601175
U2	AURKA	2.086438596	5.27E-12	Serine/threonine kinase	BrainSpLMD|6790;Eurexp|euxassay_018753|orbito-sphenoid, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|603072
U2	SULF1	1.97064592	5.27E-12	Enzyme: Sulphatase	BrainSpLMD|23213	OMIM|610012
U2	KIAA1462	2.521210428	5.54E-12			
U2	ADAMTSL1	1.973867569	5.77E-12	Secreted polypeptide	BrainSpLMD|92949	OMIM|609198
U2	IFNGR2	1.056235779	5.91E-12	Cell surface receptor	BrainSpLMD|3460;Eurexp|euxassay_009771|basal columns, dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vagus X	OMIM|147569;HPO|3460|Autosomal recessive inheritance, Immunodeficiency, Recurrent mycobacterial infections
U2	SLC1A5	1.161036422	6.33E-12	Membrane transport protein	BrainSpLMD|6510;Eurexp|euxassay_006886|clavicle, fundus region, hindgut, incisor, left, left ventricle, loop, mandible, maxilla, meninges, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pancreas, rectum, right, right ventricle, stomach, thymus primordium, thyroid, trachea, urethra, ventricular layer	OMIM|109190
U2	RAN	0.629902502	6.51E-12	GTPase	BrainSpLMD|5901	OMIM|601179
U2	IRX3	1.023391883	6.65E-12	Transcription factor	BrainSpLMD|79191;Eurexp|euxassay_019561|cochlea, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, intermediate grey horn, lung, mantle layer, metanephros, neural retina, ovary, saccule, stomach, ventricular layer, vibrissa;BrainSpMouseDev|16146	OMIM|612985
U2	CCNL1	1.127250843	6.69E-12	RNA binding protein	BrainSpLMD|57018	OMIM|613384
U2	LPHN2	1.563486811	7.21E-12			
U2	ZFP36	1.357019536	7.86E-12	RNA binding protein	BrainSpLMD|7538	OMIM|190700
U2	SIX4	3.882322702	8.03E-12	Transcription factor	BrainSpLMD|51804;BrainSpMouseDev|20236	OMIM|606342
U2	KDELR2	1.48417891	8.17E-12	Transport/cargo protein	BrainSpLMD|11014;Eurexp|euxassay_004155|axial skeleton, cervical region, clavicle, cranium, femur, fibula, footplate, handplate, humerus, leg, lumbar region, mandible, orbito-sphenoid, otic capsule, palatal shelf, radius, rib, sacral region, sternum, thoracic region, tibia, turbinate bones, ulna	OMIM|609024
U2	VANGL1	1.995805989	8.19E-12	Integral membrane protein	BrainSpLMD|81839	OMIM|610132;HPO|81839|Abnormal vertebral segmentation and fusion, Abnormality of cardiovascular system morphology, Abnormality of the wing of the ilium, Anal atresia, Anterior sacral meningocele, Aplasia/Hypoplasia of the sacrum, Autosomal dominant inheritance, Back pain, Bowel incontinence, Constipation, Decreased muscle mass, Dermoid cyst, Ectopic kidney, Headache, Hemisacrum, Hypoplastic vertebral bodies, Impulsivity, Joint stiffness, Maternal diabetes, Meningitis, Neurogenic bladder, Rectal abscess, Reduced tendon reflexes, Renal agenesis, Sacral lipoma, Scoliosis, Talipes equinovarus, Ureteral duplication, Vesicoureteral reflux
U2	SMAD3	1.72529432	8.22E-12	Transcription regulatory protein	BrainSpLMD|4088;Eurexp|euxassay_002759|dorsal grey horn, oesophagus, pharyngo-tympanic tube, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|16897	OMIM|603109;COSMIC||colorectal carcinoma, oral squamous cell carcinoma;HPO|4088|Abnormality of the iris, Abnormality of the sternum, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Arachnodactyly, Arterial tortuosity, Ascending aortic dissection, Atrial fibrillation, Autosomal dominant inheritance, Bruising susceptibility, Camptodactyly, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Dental malocclusion, Descending aortic dissection, Dural ectasia, Exertional dyspnea, High palate, Hip osteoarthritis, Hypertelorism, Hypertension, Inguinal hernia, Intervertebral disc degeneration, Joint laxity, Knee osteoarthritis, Left ventricular failure, Left ventricular hypertrophy, Mitral regurgitation, Mitral valve prolapse, Osteochondritis Dissecans, Paroxysmal dyspnea, Pes planus, Protrusio acetabuli, Scoliosis, Spondylolisthesis, Striae distensae, Umbilical hernia, Uterine prolapse
U2	TOB1	0.383125989	8.65E-12	Adapter molecule	BrainSpLMD|10140	OMIM|605523
U2	MXD3	1.893180168	8.67E-12	Unclassified	BrainSpLMD|83463;Eurexp|euxassay_006300|choroid plexus, marginal layer, ventricular layer;BrainSpMouseDev|16891	OMIM|609450
U2	RARG	2.826964694	8.71E-12	Transcription regulatory protein	BrainSpLMD|5916;Eurexp|euxassay_018429|Meckel's cartilage, axial skeleton, clavicle, cranium, ethmoid bone primordium, exoccipital bone, femur, fibula, footplate, frontal bone primordium, heart, humerus, inter-parietal bone primordium, lung, mandible, mantle layer, maxilla, metatarsus, mitral valve, oesophagus, parietal bone, pelvic girdle, petrous part, rib, right lung, scapula, shoulder joint primordium, sphenoid, stomach, temporal bone, tibia, tricuspid valve, turbinate, vertebra, vertebral cartilage condensation;BrainSpMouseDev|19174	OMIM|180190
U2	NFKBIZ	1.526719216	9.57E-12	Transcription regulatory protein	BrainSpLMD|64332	OMIM|608004
U2	GEN1	1.169866249	9.67E-12	DNA binding protein	BrainSpLMD|348654	OMIM|612449
U2	PDIA3P1	0.921032204	1.07E-11			
U2	PDIA3	1.118288382	1.07E-11	Enzyme: Isomerase		OMIM|602046
U2	HMGB1	0.583009391	1.08E-11	DNA binding protein	BrainSpMouseDev|15064	OMIM|163905
U2	PLXDC2	1.379574436	1.10E-11	Cell surface receptor	BrainSpLMD|84898;Eurexp|euxassay_002573|body-wall mesenchyme, choroid plexus, cochlear duct, diaphragm, epidermis, epithelium, humerus, mantle layer, submandibular gland primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|606827
U2	WWTR1	1.851074803	1.16E-11	Transcription regulatory protein	BrainSpLMD|25937;Eurexp|euxassay_000592|limb, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|61234	OMIM|607392;COSMIC||epithelioid haemangioendothelioma
U2	TMTC3	1.195061264	1.23E-11	Unclassified	BrainSpLMD|160418	OMIM|617218;HPO|160418|Autosomal recessive inheritance, Global developmental delay, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Infantile onset, Intellectual disability, Muscular hypotonia of the trunk, Optic atrophy, Polymicrogyria, Seizures, Ventriculomegaly
U2	MT.CYB	0.515251987	1.27E-11			
U2	MYO1C	1.399708878	1.32E-11	Motor protein	BrainSpLMD|4641	OMIM|606538
U2	PPIB	1.51639727	1.33E-11	Chaperone	BrainSpLMD|5479;Eurexp|euxassay_000530|basioccipital bone, basisphenoid bone, cranium, nucleus pulposus, orbito-sphenoid, otic capsule, rib, sphenoid	OMIM|123841;HPO|5479|Autosomal recessive inheritance, Blue sclerae, Bowing of limbs due to multiple fractures, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Kyphosis, Multiple prenatal fractures, Pectus carinatum, Pectus excavatum, Recurrent fractures, Scoliosis, Wormian bones
U2	GGH	1.222855447	1.35E-11	Enzyme: Hydrolase	BrainSpLMD|8836	OMIM|601509
U2	CFH	2.467892492	1.50E-11	Regulatory/other subunit	BrainSpLMD|3075;Eurexp|euxassay_008425|bladder, clavicle, cortex, femur, fibula, humerus, mandible, mantle layer, maxilla, medulla, medullary stroma, meninges, mesenchyme, orbito-sphenoid, rib, scapula, thymus primordium, tibia, trabeculae carneae	OMIM|134370;HPO|3075|Autosomal dominant inheritance, Autosomal recessive inheritance, Chronic kidney disease, Decreased serum complement factor H, Depletion of components of the alternative complement pathway, Glomerular subendothelial electron-dense deposits, Hematuria, Juvenile onset, Phenotypic variability, Progressive visual loss, Recurrent bacterial infections, Thickening of the glomerular basement membrane
U2	TICRR	1.167711104	1.63E-11	Unclassified	BrainSpLMD|90381	OMIM|613298
U2	CPQ	2.181001713	1.64E-11		BrainSpLMD|10404	
U2	MEST	1.54175899	1.73E-11	Enzyme: Hydrolase	BrainSpLMD|4232;Eurexp|euxassay_003445|atrium, ventricle;BrainSpMouseDev|17063	OMIM|601029
U2	LAMB2	1.706699047	1.76E-11	Extracellular matrix protein	BrainSpLMD|3913	OMIM|150325;HPO|3913|Areflexia, Autosomal recessive inheritance, Blindness, Diffuse mesangial sclerosis, Edema, Generalized hypotonia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Hypoproteinemia, Myopia, Neonatal onset, Nephrotic syndrome, Nystagmus, Posterior lenticonus, Proteinuria, Stage 5 chronic kidney disease, Strabismus
U2	IFITM2	1.922211274	1.76E-11	Integral membrane protein	BrainSpLMD|10581;Eurexp|euxassay_003572|mantle layer, thymus primordium	OMIM|605578
U2	HIST1H2BH	0.797931792	1.76E-11	DNA binding protein		OMIM|602806
U2	COL6A2	1.413980909	1.81E-11	Extracellular matrix protein	BrainSpLMD|1292	OMIM|120240;HPO|1292|Abnormality of the cardiovascular system, Abnormality of the palate, Achilles tendon contracture, Adducted thumb, Ankle contracture, Autosomal dominant inheritance, Autosomal recessive inheritance, Cachexia, Camptodactyly of finger, Congenital muscular dystrophy, Congenital muscular torticollis, Decreased fetal movement, Decreased pulmonary function, Diaphragmatic weakness, Distal muscle weakness, EMG abnormality, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated serum creatine phosphokinase, Esotropia, Facial palsy, Failure to thrive, Feeding difficulties in infancy, Flexion contracture, Follicular hyperkeratosis, Frequent falls, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, High palate, Hip dislocation, Hyperextensibility at wrists, Hyperhidrosis, Increased connective tissue, Increased endomysial connective tissue, Increased laxity of ankles, Increased laxity of fingers, Increased variability in muscle fiber diameter, Infantile onset, Joint laxity, Joint stiffness, Juvenile onset, Knee flexion contracture, Kyphosis, Limb-girdle muscle weakness, Long toe, Lumbar hyperlordosis, Micrognathia, Mildly elevated creatine phosphokinase, Motor delay, Muscle fiber necrosis, Myopathy, Neonatal hypotonia, Nocturnal hypoventilation, Pes valgus, Progressive, Protruding ear, Proximal muscle weakness, Recurrent lower respiratory tract infections, Respiratory failure, Respiratory insufficiency due to muscle weakness, Restricted neck movement due to contractures, Round face, Scoliosis, Short neck, Short stature, Skeletal muscle atrophy, Slender build, Slender finger, Slow progression, Spinal rigidity, Talipes equinovarus, Thoracolumbar scoliosis, Torticollis, Type 1 muscle fiber predominance, Variable expressivity
U2	MYOF	1.662496877	2.01E-11	Integral membrane protein	BrainSpLMD|26509	OMIM|604603
U2	BRIP1	1.651645802	2.03E-11	DNA helicase	BrainSpLMD|83990;Eurexp|euxassay_013686|cochlea, marginal layer, ventricular layer	OMIM|605882;COSMIC||AML, leukaemia, breast;HPO|83990|Abnormality of chromosome stability, Abnormality of the fallopian tube, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone marrow hypocellularity, Breast carcinoma, Chromosomal breakage induced by crosslinking agents, Esophageal atresia, Global developmental delay, Heterogeneous, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Ovarian neoplasm, Postnatal growth retardation, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
U2	RDH10	1.285720678	2.04E-11	Enzyme: Dehydrogenase	BrainSpLMD|157506;Eurexp|euxassay_005601|bladder, brain, footplate, genital tubercle, handplate, lip, mesothelium, midgut, naris, olfactory, rectum, spinal cord, stomach	OMIM|607599
U2	RBP4	1.941809916	2.12E-11	Transport/cargo protein	BrainSpLMD|5950;Eurexp|euxassay_000736|foregut-midgut junction, lobe, midgut	OMIM|180250;HPO|5950|Autosomal dominant inheritance, Autosomal recessive inheritance, Chorioretinal coloboma, Comedonal acne, Iris coloboma, Microphthalmia, Patent ductus arteriosus, Peripheral retinal atrophy, Reduced visual acuity, Retinal dystrophy, Visual impairment
U2	PCNA	1.292050093	2.18E-11	Cell cycle control protein	BrainSpLMD|5111;Eurexp|euxassay_005732|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, spinal cord, ventricular layer	OMIM|176740;HPO|5111|Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Conjunctival telangiectasia, Cutaneous photosensitivity, Dysarthria, Dysphagia, Global developmental delay, Muscle weakness, Neurodegeneration, Pes cavus, Photophobia, Progressive, Progressive muscle weakness, Short stature, Unsteady gait
U2	DNAJC9	1.272314894	2.22E-11	Chaperone	BrainSpLMD|23234;Eurexp|euxassay_001729|ventricular layer	OMIM|611206
U2	GMNN	0.77144756	2.24E-11	Cell cycle control protein	BrainSpLMD|51053;Eurexp|euxassay_013652|cortex, incisor, lobe, lung, molar, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|602842;HPO|51053|Abnormality of epiphysis morphology, Abnormality of the ribs, Anotia, Aplastic clavicles, Atresia of the external auditory canal, Autosomal dominant inheritance, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Conductive hearing impairment, Craniosynostosis, Cryptorchidism, Delayed puberty, Delayed skeletal maturation, Depressed nasal ridge, Failure to thrive, Feeding difficulties, Growth hormone deficiency, High, narrow palate, Hip dysplasia, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Microtia, third degree, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Recurrent respiratory infections, Respiratory distress, Respiratory failure, Retrognathia, Severe short stature, Short middle phalanx of finger, Slender long bone, Stenosis of the external auditory canal, Umbilical hernia
U2	AL132709.8	1.939852223	2.25E-11			
U2	CYP1B1	2.872432271	2.29E-11	Enzyme: Oxidoreductase	BrainSpLMD|1545	OMIM|601771;HPO|1545|Abnormality of Descemet's membrane, Autosomal recessive inheritance, Buphthalmos, Congenital glaucoma, Corneal neovascularization, Corneal opacity, Glaucoma, Heterogeneous, Increased intraocular pressure, Late onset congenital glaucoma, Nevus flammeus, Peters anomaly, Posterior synechiae of the anterior chamber, Primary congenital glaucoma, Retinal detachment
U2	COLGALT1	0.944814912	2.38E-11	Unclassified	BrainSpLMD|79709	OMIM|617531
U2	ASS1	2.360450269	2.52E-11	Enzyme: Ligase		SFARI||Autism, 5 - Hypothesized but untested;OMIM|603470;HPO|445|Ataxia, Autosomal recessive inheritance, Cerebral edema, Cirrhosis, Coma, Episodic ammonia intoxication, Failure to thrive, Global developmental delay, Hepatomegaly, Hyperammonemia, Hyperglutaminemia, Hypoargininemia, Intellectual disability, Irritability, Lethargy, Neonatal onset, Oroticaciduria, Phenotypic variability, Protein avoidance, Respiratory alkalosis, Seizures, Vomiting
U2	RBMS1P1	0.954231879	2.56E-11			
U2	RFC3	1.823044064	2.64E-11	DNA binding protein	BrainSpLMD|5983;Eurexp|euxassay_010694|submandibular gland primordium, ventricular layer	OMIM|600405
U2	PLK4	1.464400818	2.73E-11	Serine/threonine kinase	BrainSpLMD|10733;Eurexp|euxassay_003979|Meckel's cartilage, clavicle, cranium, rib, turbinate	OMIM|605031;HPO|10733|Abnormality of dental enamel, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the eyelashes, Absent earlobe, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Autosomal recessive inheritance, Biparietal narrowing, Cachexia, Cataract, Cerebellar atrophy, Cerebral atrophy, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital onset, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Hip dysplasia, Hypertonia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Mild global developmental delay, Narrow face, Nystagmus, Optic atrophy, Pointed chin, Prematurely aged appearance, Protruding ear, Reduced number of teeth, Sandal gap, Scoliosis, Seizures, Short stature, Sloping forehead, Sparse scalp hair, Strabismus, Visual impairment, Wide nasal bridge
U2	C11orf31	0.253037439	2.77E-11			
U2	AQP1	2.589484175	2.83E-11	Water channel	BrainSpLMD|358;Eurexp|euxassay_002187|Meckel's cartilage, axial skeleton, choroid plexus, clavicle, ductus deferens, exoccipital bone, humerus, lip, lobe, mandible, mesenchyme, nasal septum, orbito-sphenoid, pelvic girdle, phalanx, rib, thyroid, tongue, turbinate, valve, vault of skull, vibrissa	OMIM|107776
U2	XYLT2	0.781765786	3.04E-11	Enzyme: Transferase	BrainSpLMD|64132;Eurexp|euxassay_005092|dorsal root ganglion, trigeminal V, ventricular layer	OMIM|608125;HPO|64132|Abnormality of the eyebrow, Abnormality of the intervertebral disk, Amblyopia, Aplasia/Hypoplasia of the lens, Atrial septal defect, Autosomal recessive inheritance, Cataract, Disproportionate short-trunk short stature, Facial hypotonia, Hypertelorism, Iris hypopigmentation, Long fingers, Long toe, Low posterior hairline, Low-set ears, Microphthalmia, Mitral valve prolapse, Muscle weakness, Nystagmus, Osteopenia, Osteoporosis, Pes planus, Platyspondyly, Posteriorly rotated ears, Retinal detachment, Sensorineural hearing impairment, Shield chest, Short neck, Thoracic kyphosis, Ventricular septal defect, Vertebral compression fractures, Visual loss, Webbed neck
U2	HIATL1	0.604057863	3.04E-11			
U2	PRELP	2.524535308	3.15E-11	Anchor protein	BrainSpLMD|5549	OMIM|601914
U2	PHLDB2	1.648835819	3.24E-11	Cytoskeletal associated protein	BrainSpLMD|90102	OMIM|610298
U2	TTK	2.142685952	3.38E-11	Dual specificity kinase	BrainSpLMD|7272	OMIM|604092
U2	CKAP2	1.344613049	3.41E-11	Cytoskeletal associated protein	BrainSpLMD|26586;Eurexp|euxassay_001740|thymus primordium, ventricular layer	OMIM|611569
U2	FANCI	1.520394693	3.45E-11	Unclassified	BrainSpLMD|55215	OMIM|611360;HPO|55215|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
U2	ATF3	0.690259336	3.99E-11	Transcription regulatory protein	BrainSpLMD|467;Eurexp|euxassay_006681|femur, humerus, ventricle;BrainSpMouseDev|11697	OMIM|603148
U2	CHP1	0.547435113	4.11E-11		BrainSpLMD|11261	OMIM|606988
U2	PLP2	1.60152859	4.22E-11	Ion channel	BrainSpLMD|5355;Eurexp|euxassay_004091|Meckel's cartilage, cranium, fundus, stomach	OMIM|300112
U2	ESPL1	2.102897718	4.40E-11	Cysteine protease	BrainSpLMD|9700	OMIM|604143
U2	LPAR1	3.112993947	4.44E-11	G protein coupled receptor	BrainSpLMD|1902	OMIM|602282
U2	FHL2	1.64025215	4.46E-11	Adapter molecule	BrainSpLMD|2274	OMIM|602633;HPO|2274|Dilated cardiomyopathy
U2	GSTP1	0.638716497	4.54E-11	Enzyme: Glutathione transferase	BrainSpLMD|2950;Eurexp|euxassay_006221|lobe	OMIM|134660
U2	LAPTM4A	0.991597765	4.69E-11	Membrane transport protein	BrainSpLMD|9741	
U2	CCNA2	2.00626212	4.98E-11	Cell cycle control protein	BrainSpLMD|890	OMIM|123835
U2	MBNL1	1.343704628	5.11E-11	RNA binding protein	BrainSpLMD|4154	OMIM|606516
U2	ITM2C	1.553625672	5.18E-11	Integral membrane protein	BrainSpLMD|81618	OMIM|609554
U2	SPG20	1.500152844	5.23E-11			
U2	EXT2	1.466054511	5.99E-11	Enzyme: Glycosyltransferase	BrainSpLMD|2132	OMIM|608210;COSMIC||exostoses, osteosarcoma;HPO|2132|Abnormality of femur morphology, Abnormality of the dentition, Abnormality of the humerus, Abnormality of the metaphysis, Abnormality of tibia morphology, Anteverted nares, Aseptic necrosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone pain, Brachycephaly, Broad nasal tip, Cervical myelopathy, Chondrosarcoma, Coarse facial features, Constipation, Coxa vara, Cranial nerve paralysis, Cryptorchidism, Decreased skull ossification, Depressed nasal tip, Downturned corners of mouth, Epicanthus, Exostoses, Failure to thrive, Gastroesophageal reflux, Generalized hypotonia, Genu valgum, Global developmental delay, Hypertelorism, Hypoplasia of the ulna, Infantile onset, Juvenile onset, Macrocephaly, Madelung deformity, Madelung-like forearm deformities, Micrognathia, Micromelia, Micropenis, Multiple exostoses, Muscle weakness, Nystagmus, Overlapping toe, Parietal foramina, Pelvic bone exostoses, Peripheral nerve compression, Poor speech, Prominent nasal bridge, Protuberances at ends of long bones, Radial bowing, Rib exostoses, Scapular exostoses, Scoliosis, Seizures, Short metacarpal, Short philtrum, Short stature, Strabismus, Underdeveloped nasal alae, Ventricular septal defect
U2	SERF2	0.736114508	6.01E-11	RNA binding protein	BrainSpLMD|10169;Eurexp|euxassay_007238|cranium	OMIM|605054
U2	SURF4	0.884245469	6.14E-11	Membrane transport protein		OMIM|185660
U2	ZIC5	2.082901183	6.20E-11	DNA binding protein	BrainSpLMD|85416;BrainSpMouseDev|41618	
U2	PSME2	1.628112043	6.21E-11	Ubiquitin proteasome system protein	BrainSpLMD|5721;Eurexp|euxassay_007332|thymus primordium	OMIM|602161
U2	FOXP2	1.850994425	6.24E-11	Transcription factor	BrainSpLMD|93986;Eurexp|euxassay_010964|axial skeleton, basal columns, bladder, cochlea, cortex, cranium, ear, extrinsic ocular muscle, femur, floor plate, floorplate, footplate, handplate, hindgut, humerus, lateral wall, leg, lung, mandible, mantle layer, meninges, mesenchyme, metatarsus, midgut, oesophagus, olfactory lobe, orbito-sphenoid, palatal shelf, pelvic girdle, phalanx, rectum, rest of mesenchyme, rib, skeleton, stomach, thyroid, tongue, trachea, turbinate bones, urethra, valve, ventral grey horn;BrainSpMouseDev|76994	SFARI||Autism, 3 - Suggestive evidence;OMIM|605317;HPO|93986|Abnormality of the basal ganglia, Abnormality of the face, Autosomal dominant inheritance, Delayed speech and language development, Incomprehensible speech, Oromotor apraxia
U2	PLOD2	1.968959237	6.50E-11	Enzyme: Hydroxylase	BrainSpLMD|5352;Eurexp|euxassay_008722|axial skeleton, basisphenoid bone, clavicle, exoccipital bone, mesenchyme, nasal septum, otic capsule, petrous part, rib, sternum, tongue, trachea, turbinate	OMIM|601865;HPO|5352|Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Elbow flexion contracture, Femoral bowing, Flexion contracture, Hydroxyprolinuria, Increased susceptibility to fractures, Inguinal hernia, Joint stiffness, Knee flexion contracture, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes equinovarus, Triangular face, Wormian bones
U2	LRPAP1	1.456628129	6.69E-11	Chaperone	BrainSpLMD|4043;Eurexp|euxassay_013971|calyces, choroid invagination, choroid plexus, floor plate, floorplate, mantle layer, marginal layer, olfactory, roof plate, stomach	OMIM|104225;HPO|4043|Autosomal recessive inheritance, Increased axial globe length, Reduced visual acuity, Severe Myopia, Visual impairment
U2	GMPPA	1.844183826	6.71E-11	Enzyme: Phosphorylase	BrainSpLMD|29926	OMIM|615495;HPO|29926|Achalasia, Adrenal insufficiency, Alacrima, Autosomal recessive inheritance, Dysautonomia, Dysphagia, Feeding difficulties, Generalized hyperpigmentation, Global developmental delay, Intellectual disability, Palmoplantar keratoderma, Seizures, Short stature, Visual impairment
U2	LGALS3	1.470309557	6.72E-11	Transcription regulatory protein	BrainSpLMD|3958	OMIM|153619
U2	MYH11	0.933392185	7.05E-11	Structural protein	BrainSpLMD|4629	OMIM|160745;COSMIC||AML;HPO|4629|Abdominal distention, Abnormal iris pigmentation, Abnormality of the iris, Aortic regurgitation, Ascending aortic dissection, Autosomal dominant inheritance, Bicuspid aortic valve, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis, Cystic medial necrosis of the aorta, Descending aortic dissection, Dilatation of ascending aorta, Dilatation of the descending aortic, Dissecting aortic dilatation, Exertional dyspnea, Hydroureter, Hypertension, Hypoperistalsis, Intestinal malrotation, Left ventricular failure, Megacystis, Microcolon, Multicystic kidney dysplasia, Nausea and vomiting, Paroxysmal dyspnea, Patent ductus arteriosus, Polyhydramnios
U2	LMAN1	1.630856985	7.68E-11	Chaperone	BrainSpLMD|3998	OMIM|601567;HPO|3998|Abnormal bleeding, Autosomal recessive inheritance, Reduced factor V activity, Reduced factor VIII activity
U2	EEF1D	0.938566548	8.12E-11	Guanine nucleotide exchange factor	BrainSpLMD|1936	OMIM|130592
U2	BUB1	1.195770686	8.34E-11	Serine/threonine kinase	BrainSpLMD|699;Eurexp|euxassay_018012|3rd ventricle, 4th ventricle, adrenal gland, cochlea, cochlear duct, cortex, foregut-midgut junction, incisor, liver, liver and biliary system, loop, lung, metanephros, midgut, molar, naris, pancreas, penis, retina, rib, submandibular gland primordium, testis, thymus primordium, tongue, turbinate bones, ventricular layer, vibrissa	OMIM|602452;HPO|699|Abnormality of vision, Ascites, Cataract, Corneal opacity, Dandy-Walker malformation, Epicanthus, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Polyhydramnios, Short stature, Triangular face
U2	TUBA1B	1.211732663	8.72E-11	Structural protein	BrainSpLMD|10376	OMIM|602530
U2	ASB9	3.315614199	8.80E-11	Unclassified	BrainSpLMD|140462	OMIM|300890
U2	NID2	1.526145292	8.95E-11	Extracellular matrix protein	BrainSpLMD|22795	OMIM|605399
U2	BUB3	1.125800326	9.27E-11	Cell cycle control protein	BrainSpLMD|9184;Eurexp|euxassay_004484|hindbrain, lateral wall, mantle layer, saccule, utricle	OMIM|603719;HPO|9184|Abnormality of vision, Ascites, Cataract, Corneal opacity, Dandy-Walker malformation, Epicanthus, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Polyhydramnios, Short stature, Triangular face
U2	PLD3	1.484541347	9.34E-11	Enzyme: Phospholipase	BrainSpLMD|23646	OMIM|615698
U2	INPP4B	2.258065953	9.43E-11	Enzyme: Phosphotransferase	BrainSpLMD|8821;Eurexp|euxassay_012070|mantle layer, mesenchyme, penis, skeletal muscle, vertebral axis muscle system;BrainSpMouseDev|87845	OMIM|607494
U2	TNFRSF10D	2.426631058	9.48E-11	Cell surface receptor	BrainSpLMD|8793	OMIM|603614
U2	SCARA3	1.630178418	9.65E-11	Unclassified;ATPase	BrainSpLMD|51435;Eurexp|euxassay_004188|body-wall mesenchyme, clavicle, cochlea, head mesenchyme, mandible, maxilla, skeleton;BrainSpMouseDev|85488	OMIM|602728
U2	HIST1H2BK	0.410591912	9.71E-11	DNA binding protein	BrainSpLMD|85236	OMIM|615045
U2	HADH	1.050337685	9.93E-11	Enzyme: Dehydrogenase	BrainSpLMD|3033;Eurexp|euxassay_018543|adrenal gland, liver, lung, midgut, orbito-sphenoid, stomach, sublingual gland primordium, testis, thymus primordium, thyroid, trachea, turbinate, ventricular layer	OMIM|601609;HPO|3033|Abnormality of acetylcarnitine metabolism, Autosomal recessive inheritance, Confusion, Decreased activity of 3-hydroxyacyl-CoA dehydrogenase, Diarrhea, Dicarboxylic aciduria, Dilated cardiomyopathy, Elevated hepatic transaminases, Fasting hyperinsulinemia, Feeding difficulties in infancy, Fulminant hepatic failure, Growth delay, Hepatic necrosis, Hepatic steatosis, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, Hypoglycemic coma, Hypoglycemic encephalopathy, Hypoglycemic seizures, Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level, Intellectual disability, Intrauterine growth retardation, Lethargy, Muscular hypotonia, Myoglobinuria, Neonatal hypoglycemia, Neonatal hypotonia, Phenotypic variability, Proportionate short stature, Vomiting
U2	ADAMTS1	1.757078429	1.02E-10	Metallo protease	BrainSpLMD|9510;Eurexp|euxassay_004197|clavicle, cranium, mandible, maxilla, rib	OMIM|605174
U2	CALM2	0.271870994	1.09E-10	Calcium binding protein	BrainSpLMD|805	OMIM|114182;HPO|805|Autosomal dominant inheritance, Prolonged QT interval, Ventricular tachycardia, Vertigo
U2	ITGB3BP	1.161696421	1.18E-10	Transcription regulatory protein	BrainSpLMD|23421	OMIM|605494
U2	SNORD113.3	2.161035712	1.27E-10			
U2	UHRF1	0.998779066	1.34E-10	DNA binding protein	BrainSpLMD|29128	OMIM|607990
U2	PRDX6	1.031257216	1.36E-10	Enzyme: Peroxidase	BrainSpLMD|9588;Eurexp|euxassay_018727|floor plate, floorplate, hepatic duct, left lung, liver, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, olfactory, pancreas, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|602316
U2	LMNB2	1.537241548	1.88E-10	Structural protein	BrainSpLMD|84823	OMIM|150341;HPO|84823|Autoimmunity, Autosomal recessive inheritance, Decreased serum complement C3, Gait ataxia, Generalized amyotrophy, Global developmental delay, Hearing impairment, Intellectual disability, Lipoatrophy, Lymphocytosis, Microglossia, Myoclonus, Myopathy, Progeroid facial appearance, Progressive, Scoliosis, Seizures, Short thumb, Status epilepticus, Ventriculomegaly
U2	COL24A1	2.488348575	1.92E-10	Extracellular matrix protein	BrainSpLMD|255631;Eurexp|euxassay_016385|clavicle, femur, humerus, mandible, maxilla, orbito-sphenoid, rib, scapula;BrainSpMouseDev|47196	OMIM|610025
U2	UTRN	1.521068048	2.02E-10	Anchor protein	BrainSpLMD|7402;Eurexp|euxassay_013991|bladder, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, primitive seminiferous tubules, rectum, stomach, trigeminal V, urethra	SFARI||Autism, No category;OMIM|128240
U2	OXCT1	1.567194367	2.14E-10	Enzyme: CoA transferase	BrainSpLMD|5019	OMIM|601424;HPO|5019|Autosomal recessive inheritance, Episodic ketoacidosis, Ketonuria, Tachypnea, Vomiting
U2	CLSPN	1.819840094	2.19E-10	Cell cycle control protein	BrainSpLMD|63967;Eurexp|euxassay_004199|ventricular layer	OMIM|605434
U2	KCTD12	1.147378918	2.22E-10	Ion channel	BrainSpLMD|115207;BrainSpMouseDev|88550	OMIM|610521
U2	WLS	1.766244654	2.29E-10	Integral membrane protein	BrainSpLMD|79971	OMIM|611514
U2	PAPSS2	1.545085557	2.30E-10	Enzyme: Ligase	BrainSpLMD|9060;Eurexp|euxassay_005940|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, digit 1, digit 2, digit 3, digit 4, digit 5, exoccipital bone, femur, fibula, footplate, handplate, humerus, hyoid bone, naris, nasal septum, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones, valve, vault of skull	OMIM|603005;HPO|9060|Acne, Autosomal recessive inheritance, Bowing of the legs, Brachydactyly, Hirsutism, Irregular vertebral endplates, Kyphoscoliosis, Lower limb undergrowth, Lumbar scoliosis, Platyspondyly, Premature pubarche, Secondary amenorrhea, Short stature, Spondyloepimetaphyseal dysplasia
U2	ITGB1	1.400570862	2.35E-10	Cell surface receptor	BrainSpLMD|3688;Eurexp|euxassay_010970|aorta, bladder, clavicle, floor plate, floorplate, lung, mandible, maxilla, midgut, oesophagus, orbito-sphenoid, rib, stomach, submandibular gland primordium;BrainSpMouseDev|16185	OMIM|135630
U2	EEF1A1	0.455411509	2.35E-10	Transcription regulatory protein	BrainSpLMD|1915	OMIM|130590
U2	WEE1	1.061837937	2.45E-10	Dual specificity kinase	BrainSpLMD|7465;Eurexp|euxassay_016462|hindgut, lung, midgut, stomach, submandibular gland primordium, ventricular layer	OMIM|193525
U2	OAF	2.255202254	2.50E-10	Unclassified	BrainSpLMD|220323	
U2	NCAPH	2.331323191	2.50E-10	Cell cycle control protein	BrainSpLMD|23397;Eurexp|euxassay_002558|ventricular layer	OMIM|602332
U2	NBPF14	1.133699969	2.54E-10	Unclassified		OMIM|614003
U2	MYL6	0.369870062	2.58E-10	Cytoskeletal protein	BrainSpLMD|4637	OMIM|609931
U2	FMO1	2.199320952	2.66E-10	Enzyme: Oxygenase	BrainSpLMD|2326;BrainSpMouseDev|14038	OMIM|136130
U2	DCBLD2	1.098837931	2.73E-10	Adhesion molecule	BrainSpLMD|131566	OMIM|608698
U2	C19orf53	0.280065648	2.76E-10	Unclassified	BrainSpLMD|28974	
U2	CSRNP1	1.034448539	2.76E-10	Unclassified	BrainSpLMD|64651	OMIM|606458
U2	SLIT2	1.627260199	3.03E-10	Ligand	BrainSpLMD|9353;BrainSpMouseDev|20325	OMIM|603746
U2	PRDM6	1.843487855	3.16E-10	Transcription regulatory protein		OMIM|616982;HPO|93166|Autosomal dominant inheritance, Patent ductus arteriosus
U2	SLC38A4	1.37975628	3.28E-10	Membrane transport protein	BrainSpLMD|55089	OMIM|608065
U2	NAP1L1	0.675801885	3.39E-10	Transcription regulatory protein	BrainSpLMD|4673;Eurexp|euxassay_005511|nucleus pulposus	OMIM|164060
U2	MCC	1.418210515	3.41E-10	Unclassified;Cell cycle control protein	BrainSpLMD|4163;Eurexp|euxassay_016045|mantle layer, pineal primordium, stomach, submandibular gland primordium, ventricular layer	SFARI||Autism, No category;OMIM|159350
U2	CENPM	1.571459104	3.47E-10	Unclassified	BrainSpLMD|79019	OMIM|610152
U2	MT.ND5	0.356424311	3.54E-10			
U2	CGNL1	1.474738225	3.57E-10	Unclassified	BrainSpLMD|84952;Eurexp|euxassay_012420|molar, sublingual gland primordium	SFARI||Autism, 3 - Suggestive evidence;OMIM|607856
U2	HIST1H1A	1.587855892	3.69E-10	DNA binding protein	BrainSpLMD|3024	OMIM|142709
U2	IFT57	1.4897511	3.74E-10	Unclassified	BrainSpLMD|55081	OMIM|606621
U2	NFATC4	1.182566768	3.75E-10	Transcription factor	BrainSpLMD|4776;BrainSpMouseDev|49022	OMIM|602699
U2	RRM1	1.136776486	3.75E-10	Cell cycle control protein	BrainSpLMD|6240;Eurexp|euxassay_018692|cortex, incisor, lobe, lung, mandible, marginal layer, mesenchyme, molar, neural retina, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|180410
U2	LHFP	0.960637356	3.80E-10			
U2	MZT1	1.145039828	3.81E-10	Unclassified		OMIM|613448
U2	ADCY3	1.595590959	3.83E-10	Adenylate cyclase	BrainSpLMD|109;Eurexp|euxassay_018616|facial VII, olfactory, trigeminal V, ventral grey horn	SFARI||Autism, 3 - Suggestive evidence;OMIM|600291
U2	FOSL2	1.254423316	3.88E-10	Transcription factor	BrainSpLMD|2355;Eurexp|euxassay_018136|adrenal gland, axial skeleton, calyces, clavicle, ductus deferens, fundus, hindgut, intervertebral disc, mandible, mantle layer, marginal layer, maxilla, midgut, pelvis, testis, urethra, vertebral cartilage condensation, vibrissa;BrainSpMouseDev|14061	OMIM|601575
U2	TMEM119	2.539589063	3.98E-10	Unclassified	BrainSpLMD|338773;Eurexp|euxassay_004280|axial skeleton, clavicle, cranium, femur, fibula, footplate, handplate, mandible, maxilla, orbito-sphenoid, palatal shelf, rib, tibia, visceral organ;BrainSpMouseDev|87282	
U2	SLC25A24	0.645795966	4.10E-10	Transport/cargo protein	BrainSpLMD|29957	SFARI||Autism, 5 - Hypothesized but untested;OMIM|608744
U2	EPB41L2	1.573488187	4.12E-10	Cytoskeletal protein	BrainSpLMD|2037;Eurexp|euxassay_010082|calyces, clavicle, femur, fibula, fundus region, lens, lung, mandible, maxilla, meninges, olfactory, orbito-sphenoid, pelvis, rib, roof plate, tibia, ureter	OMIM|603237
U2	MIR22HG	1.304048324	4.14E-10		BrainSpLMD|84981	
U2	EHD2	2.150192195	4.17E-10	Unclassified	BrainSpLMD|30846	OMIM|605890
U2	CLINT1	0.713761146	4.18E-10	Transport/cargo protein	BrainSpLMD|9685;Eurexp|euxassay_011314|basioccipital bone, basisphenoid bone, clavicle, cortex, cricoid, liver, mandible, maxilla, midgut, naris, orbito-sphenoid, otic capsule, petrous part, rectum, rib, sternum, sublingual gland primordium, submandibular gland primordium, temporal bone, thyroid, turbinate bones, valve, vault of skull	OMIM|607265
U2	RTKN2	0.660588107	4.79E-10	Unclassified	BrainSpLMD|219790	
U2	KNTC1	1.165646641	4.84E-10	Cell cycle control protein	BrainSpLMD|9735;Eurexp|euxassay_011295|ventricular layer	OMIM|607363
U2	SGOL1	1.326811495	4.94E-10			
U2	RANP1	0.278333685	5.13E-10			
U2	CYR61	1.263475016	5.18E-10	Extracellular matrix protein	BrainSpLMD|3491;BrainSpMouseDev|15780	OMIM|602369
U2	KANK2	1.434383394	5.21E-10	Structural protein	BrainSpLMD|25959	OMIM|614610;HPO|25959|Autosomal recessive inheritance, Palmoplantar keratoderma, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Sparse scalp hair, Woolly hair, Woolly scalp hair
U2	TMEM230	0.442528824	5.56E-10	Integral membrane protein	BrainSpLMD|29058	OMIM|617019
U2	TPI1P1	0.721312663	5.63E-10			
U2	TPM1	1.259439792	5.65E-10	Cytoskeletal associated protein	BrainSpLMD|7168;Eurexp|euxassay_009503|atrium, axial skeleton, bladder, choroid plexus, diaphragm, extrinsic ocular muscle, hindgut, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, liver, lung, mantle layer, mesenchyme, metanephros, midgut, nasal septum, skeletal muscle, skin, stomach, ventral grey horn, ventricle, vertebral axis muscle system, vibrissa	OMIM|191010;HPO|7168|Autosomal dominant inheritance, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular tachycardia
U2	MEG8	1.825934187	5.75E-10			OMIM|613648
U2	SPATS2L	1.153519213	6.32E-10	Unclassified	BrainSpLMD|26010;Eurexp|euxassay_013635|bladder, exoccipital bone, mantle layer, mesenchyme, oesophagus, orbito-sphenoid, penis, pharyngo-tympanic tube, tongue, turbinate, vertebral axis muscle system, vibrissa	OMIM|613817
U2	FOXRED2	0.663753521	6.44E-10	Enzyme: Oxidoreductase	BrainSpLMD|80020	OMIM|613777
U2	AKAP12	1.007033306	6.44E-10	Anchor protein	BrainSpLMD|9590	OMIM|604698
U2	ORC6	1.018073478	6.48E-10	DNA binding protein	BrainSpLMD|23594;Eurexp|euxassay_007673|cortex, incisor, left, mandible, molar, right, submandibular gland primordium, ventricular layer	OMIM|607213;HPO|23594|Abnormality of epiphysis morphology, Abnormality of the ribs, Absent sternal ossification, Anotia, Aplasia/Hypoplasia of the patella, Aplastic clavicles, Atresia of the external auditory canal, Autosomal recessive inheritance, Birth length less than 3rd percentile, Breast hypoplasia, Bronchomalacia, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Coxa vara, Craniosynostosis, Cryptorchidism, Delayed skeletal maturation, Downslanted palpebral fissures, Dyspnea, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Genu varum, High, narrow palate, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypospadias, Intrauterine growth retardation, Joint hyperflexibility, Laryngomalacia, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Micropenis, Microretrognathia, Microtia, Microtia, third degree, Narrow chest, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Prominent nasal bridge, Recurrent pneumonia, Respiratory distress, Respiratory failure, Retrognathia, Scrotal hypoplasia, Severe short stature, Short ribs, Short thorax, Slender long bone, Talipes equinovarus, Thick lower lip vermilion, Tracheomalacia, Triangular face
U2	MYL9	1.668989943	6.77E-10	Unclassified	BrainSpLMD|10398;Eurexp|euxassay_010121|atrium, bladder, cardiovascular system, left lung, liver, midgut, nasal cavity, oesophagus, right lung, stomach, ventricle	OMIM|609905
U2	HS3ST3B1	2.79039729	6.83E-10	Enzyme: Sulphotransferase	BrainSpLMD|9953	OMIM|604058
U2	RP11.758P17.3	1.531990594	7.05E-10			
U2	MSRB3	2.615104645	7.13E-10	Enzyme: Reductase	BrainSpLMD|253827;Eurexp|euxassay_000090|Meckel's cartilage, axial skeleton, bladder, chondrocranium, clavicle, cochlea, dorsal root ganglion, facial bones primordia, fibula, frontal bone primordium, heart, hindlimb, hip, hyoid bone, inner ear, labyrinth, leg, lower jaw, lower leg, lung, mandible, maxilla, mesenchyme, nucleus pulposus, otic capsule, palatal shelf, pelvic girdle, premaxilla, primary palate, rib, sacral region, scapula, shoulder, skeleton, submandibular gland primordium, tibia, trigeminal V, turbinate, turbinate bones, upper jaw, valve, vault of skull, ventricle, vertebra, vestibular component	OMIM|613719;HPO|253827|Autosomal recessive inheritance, Hearing impairment
U2	SRSF3	0.545186768	7.21E-10	RNA binding protein	BrainSpLMD|6428	OMIM|603364;COSMIC||follicular lymphoma
U2	EEF1B2	0.603108101	7.22E-10	Translation regulatory protein	BrainSpLMD|1933	OMIM|600655
U2	BCL2L12	0.82458066	7.68E-10	Unclassified	BrainSpLMD|83596	OMIM|610837;COSMIC||melanoma, SCC
U2	CCNF	1.606910584	7.69E-10	Cell cycle control protein	BrainSpLMD|899;Eurexp|euxassay_002325|lobe, ventricular layer	OMIM|600227;HPO|899|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
U2	C1QTNF7	1.310374577	8.08E-10	Structural protein	BrainSpLMD|114905;Eurexp|euxassay_008792|basioccipital bone, basisphenoid bone, exoccipital bone, fibula, foramen ovale, humerus, orbito-sphenoid, pelvic girdle, petrous part, radius, scapula, tibia, turbinate, ulna	
U2	TMEM87A	0.455614584	8.54E-10	Integral membrane protein	BrainSpLMD|25963	
U2	TLK1	0.304537274	8.60E-10	Serine/threonine kinase	BrainSpLMD|9874	OMIM|608438
U2	IKBIP	1.570665491	8.63E-10	Unclassified	BrainSpLMD|121457;Eurexp|euxassay_008119|mandible, maxilla, rib	OMIM|609861
U2	FAT4	1.642359511	8.80E-10	Adhesion molecule	BrainSpLMD|79633	OMIM|612411;COSMIC||lymphoma, pancreatic, head and neck, melanoma, hepatocellular carcinoma, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2;HPO|79633|Atresia of the external auditory canal, Autosomal recessive inheritance, Bifid scrotum, Blepharophimosis, Clinodactyly, Conductive hearing impairment, Congenital onset, Cryptorchidism, Cutaneous finger syndactyly, Dental malocclusion, Downturned corners of mouth, Epicanthus, Feeding difficulties, Generalized hypotonia, Growth delay, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypospadias, Intellectual disability, Irregular dentition, Joint laxity, Malar flattening, Micrognathia, Micropenis, Microtia, Midface retrusion, Narrow chest, Narrow forehead, Osteopenia, Ptosis, Renal hypoplasia, Sacral dimple, Scoliosis, Sensorineural hearing impairment, Short 4th metacarpal, Short clavicles, Short fourth metatarsal, Short palpebral fissure, Skeletal dysplasia, Talipes equinovarus, Tented upper lip vermilion, Tracheomalacia, Wide anterior fontanel, Wide cranial sutures, Wide nasal bridge
U2	C1QTNF3	2.3977198	9.08E-10	Secreted polypeptide	BrainSpLMD|114899;Eurexp|euxassay_001714|axial muscle, limb, lower jaw, molar, nucleus pulposus, pectoral girdle and thoracic body wall, tail, upper jaw, ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|612045
U2	AP3S1	0.425772494	9.14E-10	Adapter molecule	BrainSpLMD|1176	OMIM|601507
U2	C5orf15	0.578965379	9.22E-10	Unclassified	BrainSpLMD|56951	
U2	KIAA1524	1.572837754	9.22E-10			
U2	FAM64A	1.55285198	9.26E-10			
U2	TPT1	0.5956416	9.70E-10	Calcium binding protein	BrainSpLMD|7178	OMIM|600763
U2	MIR610	2.517409818	9.86E-10			OMIM|612330
U2	ABCA8	3.308925591	1.02E-09	Membrane transport protein	BrainSpLMD|10351	OMIM|612505
U2	TSC22D2	0.327310324	1.02E-09	Unclassified	BrainSpLMD|9819	OMIM|617724
U2	JUNB	0.810347061	1.04E-09	Transcription factor	BrainSpLMD|3726	OMIM|165161
U2	PGAM1	0.941619974	1.05E-09	Enzyme: Mutase		OMIM|172250
U2	STAT2	0.427824178	1.05E-09	Transcription factor	BrainSpLMD|6773	OMIM|600556;HPO|6773|Autosomal recessive inheritance, Variable expressivity
U2	HAUS8	1.401784028	1.10E-09	Unclassified	BrainSpLMD|93323	OMIM|613434
U2	CDK2	1.965928141	1.17E-09	Cell cycle control protein	BrainSpLMD|1017	OMIM|116953
U2	EOGT	2.326703116	1.20E-09	Enzyme: Glycosyltransferase	BrainSpLMD|285203;Eurexp|euxassay_007775|aorta, embryo, left lung, mantle layer, meninges, right lung	OMIM|614789;HPO|285203|Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aplasia cutis congenita, Autosomal recessive inheritance, Brachydactyly, Calvarial skull defect, Cataract, Cutis marmorata, Failure to thrive, Finger syndactyly, Hydrocephalus, Hypoplastic toenails, Microphthalmia, Phenotypic variability, Pulmonary artery atresia, Short distal phalanx of finger, Sparse hair, Split hand, Strabismus, Talipes, Tetralogy of Fallot, Toenail dysplasia
U2	HMGB1P1	0.802210771	1.23E-09	Transcription regulatory protein		
U2	TXN	0.574661327	1.24E-09	Enzyme: Reductase	Eurexp|euxassay_000861|basal plate, skeleton, submandibular gland primordium	OMIM|187700
U2	TIMP2	1.109194317	1.24E-09	Extracellular matrix protein	BrainSpLMD|7077	OMIM|188825
U2	ITGB5	1.56184937	1.28E-09	Adhesion molecule	BrainSpLMD|3693	OMIM|147561
U2	NR2F2	0.51304682	1.30E-09	Nuclear receptor	BrainSpLMD|7026;Eurexp|euxassay_018442|cortex, ductus deferens, extrinsic ocular muscle, incisor, lip, lung, mantle layer, metanephros, metatarsus, molar, oesophagus, stomach, submandibular gland primordium, tongue, trachea, trigeminal V, turbinate bones, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|11606	OMIM|107773;HPO|7026|Aortic valve stenosis, Atrioventricular canal defect, Autosomal dominant inheritance, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect
U2	SNUPN	0.620746426	1.30E-09	Adapter molecule	BrainSpLMD|10073	OMIM|607902
U2	C1D	0.854808477	1.34E-09	Transcription regulatory protein		OMIM|606997
U2	SERPINE1	1.362182763	1.36E-09	Protease inhibitor	BrainSpLMD|5054;Eurexp|euxassay_012476|aorta	SFARI||Autism, No category;OMIM|173360;HPO|5054|Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital onset, Menorrhagia
U2	SNRPB	0.842341671	1.36E-09	RNA binding protein	BrainSpLMD|6628	OMIM|182282;HPO|6628|11 pairs of ribs, Abnormality of the dentition, Anomalous rib insertion to vertebrae, Anomalous tracheal cartilage, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Calcaneal epiphyseal stippling, Cleft palate, Cleft soft palate, Clinodactyly of the 5th finger, Conductive hearing impairment, Congenital hip dislocation, Death in infancy, Ectopic kidney, Elbow flexion contracture, Epicanthus, Feeding difficulties, Gastroesophageal reflux, Glossoptosis, High palate, Horseshoe kidney, Intellectual disability, Intrauterine growth retardation, Kyphosis, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Nasal speech, Neonatal respiratory distress, Patent ductus arteriosus, Polyhydramnios, Porencephalic cyst, Posterior rib gap, Posteriorly rotated ears, Postnatal growth retardation, Renal cyst, Scoliosis, Short hard palate, Short humerus, Short stature, Thoracic hypoplasia, Tracheomalacia, Ventricular septal defect, Webbed neck
U2	ENPEP	2.690739613	1.41E-09	Aminopeptidase	BrainSpLMD|2028;Eurexp|euxassay_010473|cochlea, lung, metanephros, physiological umbilical hernia, rectum	OMIM|138297
U2	PTGFRN	0.988303582	1.41E-09	Integral membrane protein	BrainSpLMD|5738;Eurexp|euxassay_007366|axial skeleton, clavicle, floor plate, floorplate, lung, mantle layer, mesenchyme, palatal shelf, penis, sternum, submandibular gland primordium, ventricular layer, vibrissa	OMIM|601204
U2	UGDH	1.571389991	1.42E-09	Enzyme: Dehydrogenase	BrainSpLMD|7358	OMIM|603370
U2	TMEM263	0.925740593	1.47E-09	Integral membrane protein	BrainSpLMD|90488	
U2	HMGB1P10	1.145285379	1.50E-09			
U2	ANXA4	1.348466167	1.53E-09	Calcium binding protein	BrainSpLMD|307;Eurexp|euxassay_000677|foregut-midgut junction, hindgut, lung, midgut, stomach, testis;BrainSpMouseDev|11533	OMIM|106491
U2	ESCO2	1.313798513	1.55E-09	Unclassified		OMIM|609353;HPO|157570|Abnormality of cardiovascular system morphology, Abnormality of the metacarpal bones, Absent earlobe, Absent radius, Accessory spleen, Ankle contracture, Aortic valve stenosis, Aplasia of the ulna, Aplasia/Hypoplasia of the thumb, Atrial septal defect, Autosomal recessive inheritance, Bicornuate uterus, Biliary tract abnormality, Blue sclerae, Bowing of the long bones, Brachycephaly, Brachydactyly, Cafe-au-lait spot, Cataract, Cleft eyelid, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Clitoral hypertrophy, Complete duplication of thumb phalanx, Cranial nerve paralysis, Craniosynostosis, Cryptorchidism, Cystic hygroma, Downslanted palpebral fissures, Elbow flexion contracture, Enlarged labia minora, External ear malformation, Fair hair, Frontal encephalocele, Global developmental delay, Hand oligodactyly, High palate, Hip contracture, Horseshoe kidney, Hydrocephalus, Hypertelorism, Hypoplasia of the radius, Hypospadias, Intellectual disability, Intrauterine growth retardation, Knee flexion contracture, Long penis, Low-set ears, Malar flattening, Mesomelic arm shortening, Microcephaly, Micrognathia, Microphthalmia, Midface capillary hemangioma, Narrow naris, Opacification of the corneal stroma, Patent ductus arteriosus, Phocomelia, Polycystic kidney dysplasia, Polyhydramnios, Posteriorly rotated ears, Postnatal growth retardation, Premature birth, Premature separation of centromeric heterochromatin, Proptosis, Proximal placement of thumb, Radial deviation of finger, Radioulnar synostosis, Seizures, Severe intrauterine growth retardation, Shallow orbits, Short neck, Short stature, Short thumb, Sparse hair, Syndactyly, Talipes equinovalgus, Tetraphocomelia, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide nasal bridge, Wormian bones, Wrist flexion contracture
U2	MRPL51	1.016210442	1.55E-09	Ribosomal subunit	BrainSpLMD|51258	OMIM|611855
U2	SLC25A37	0.740269858	1.56E-09	Transport/cargo protein	BrainSpLMD|51312;Eurexp|euxassay_007768|liver, mesenchyme	OMIM|610387
U2	UAP1	0.521508965	1.58E-09	Enzyme: Phosphorylase	BrainSpLMD|6675	OMIM|602862
U2	DYNLL1	0.27149408	1.61E-09	Motor protein	BrainSpLMD|8655	OMIM|601562
U2	SRPR	1.180441018	1.64E-09			
U2	NOP58	0.666547253	1.71E-09	RNA binding protein	BrainSpLMD|51602	OMIM|616742
U2	GSTM2	0.328406985	1.74E-09	Enzyme: Glutathione transferase	BrainSpLMD|2946;Eurexp|euxassay_010417|mantle layer, olfactory, renal/urinary system, testis	OMIM|138380
U2	SLC7A8	0.558342434	1.74E-09	Membrane transport protein	BrainSpLMD|23428;Eurexp|euxassay_008218|renal/urinary system	OMIM|604235
U2	TRIP6	0.961049428	1.94E-09	Transcription regulatory protein	BrainSpLMD|7205	OMIM|602933
U2	CLIC1	1.189049908	1.99E-09	Intracellular ligand gated channel	BrainSpLMD|1192	OMIM|602872
U2	TGFB3	1.716725939	2.11E-09	Growth factor	BrainSpLMD|7043;BrainSpMouseDev|21568	OMIM|190230;HPO|7043|Abnormality of the iris, Aortic regurgitation, Arachnodactyly, Ascending aortic dissection, Autosomal dominant inheritance, Bifid uvula, Bilateral coxa valga, Blue sclerae, Cardiomegaly, Chest pain, Cleft palate, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Decreased muscle mass, Descending aortic dissection, Exertional dyspnea, Exotropia, Heterogeneous, Hiatus hernia, High palate, Hypertelorism, Hypertension, Hyporeflexia, Increased arm span, Inguinal hernia, Joint hypermobility, Kyphoscoliosis, Left ventricular failure, Mitral regurgitation, Paroxysmal dyspnea, Pectus carinatum, Pectus excavatum, Pes planus, Proptosis, Retrognathia, Right ventricular cardiomyopathy, Short stature, Small for gestational age, Sudden cardiac death, Tall stature, Ventricular arrhythmia
U2	KDELR1	0.904351072	2.13E-09	Unclassified	BrainSpLMD|10945	OMIM|131235
U2	NUCB2	1.225578016	2.14E-09	Calcium binding protein	BrainSpLMD|4925;BrainSpMouseDev|32802	OMIM|608020
U2	E2F8	2.14013896	2.18E-09	Transcription factor	BrainSpLMD|79733;BrainSpMouseDev|73120	OMIM|612047
U2	MPC2	0.579635496	2.20E-09	Unclassified	BrainSpLMD|25874	OMIM|614737
U2	FXYD5	1.273670944	2.20E-09	Integral membrane protein	BrainSpLMD|53827	OMIM|606669
U2	MYH10	0.848147684	2.46E-09	Structural protein	BrainSpLMD|4628;Eurexp|euxassay_009369|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system;BrainSpMouseDev|53419	OMIM|160776
U2	RCN3	2.496090613	2.47E-09	Calcium binding protein	BrainSpLMD|57333	
U2	GDF10	2.741426588	2.56E-09	Growth factor	BrainSpLMD|2662;Eurexp|euxassay_002299|axial skeleton, body-wall mesenchyme, cranium, diaphragm, dorsal grey horn, epidermis, femur, head mesenchyme, hip, humerus, lip, lower leg, marginal layer, mesenchyme, metatarsus, nasal septum, otic capsule, rib, tongue, trachea, turbinate bones, upper leg, ventricular layer;BrainSpMouseDev|14336	OMIM|601361
U2	LSAMP	0.531243804	2.62E-09	Adhesion molecule	BrainSpLMD|4045	OMIM|603241
U2	HDLBP	0.986196608	2.64E-09	Transport/cargo protein;RNA binding protein	BrainSpLMD|3069	OMIM|142695
U2	LEPREL4	1.465218032	2.69E-09			
U2	GALNT10	2.159905301	2.72E-09	Enzyme: Galactosyltransferase	BrainSpLMD|55568	OMIM|608043
U2	TMEM45A	2.286422018	2.74E-09	Unclassified	BrainSpLMD|55076	OMIM|616928
U2	HSPA5	0.980110246	2.79E-09	Chaperone	BrainSpLMD|3309	OMIM|138120
U2	SKP2	1.787686195	2.83E-09	Ubiquitin proteasome system protein	BrainSpLMD|6502	OMIM|601436
U2	BMP4	1.973464702	2.86E-09	Ligand	BrainSpLMD|652;Eurexp|euxassay_014775|anterior, aorta, cochlea, external, eyelid, left lung, meninges, mesenchyme, midgut, olfactory, pineal primordium, pulmonary artery, rectum, right lung, stomach, utricle, vibrissa;BrainSpMouseDev|11945	OMIM|112262;HPO|652|Agenesis of corpus callosum, Anophthalmia, Anterior pituitary hypoplasia, Atresia of the external auditory canal, Autosomal dominant inheritance, Bifid uvula, Brachycephaly, Brachydactyly, Cataract, Chorioretinal coloboma, Cryptorchidism, Cupped ear, Delayed CNS myelination, Diabetes insipidus, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus, Facial cleft, Familial predisposition, Global developmental delay, High forehead, Hypertelorism, Iris coloboma, Macrotia, Malar flattening, Microcornea, Micrognathia, Microphthalmia, Midface retrusion, Muscular hypotonia, Optic nerve aplasia, Oral cleft, Posteriorly rotated ears, Preauricular skin tag, Proptosis, Ptosis, Scrotal hypoplasia, Severe muscular hypotonia, Short stature, Single transverse palmar crease, Small scrotum, Toe syndactyly, Underdeveloped nasal alae, Uplifted earlobe, Ventriculomegaly
U2	KPNA2	1.665175593	2.92E-09	Transport/cargo protein	BrainSpLMD|3838	OMIM|600685
U2	MOB1A	0.551632529	2.96E-09	Unclassified	BrainSpLMD|55233	OMIM|609281
U2	EXO1	1.288082585	2.97E-09	DNA exonuclease	BrainSpLMD|9156;Eurexp|euxassay_008408|anterior, bladder, cornea, epithelium, external, footplate, handplate, incisor, left lung, liver, mantle layer, marginal layer, metanephros, midgut, molar, nasal septum, naso-lacrimal duct, olfactory, pancreas, rest of mesenchyme, retina, right lung, skeletal muscle, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|606063
U2	DHFR	1.330067722	3.00E-09	Enzyme: Oxidoreductase		OMIM|126060;HPO|1719|Absence seizures, Ataxia, Autosomal recessive inheritance, Cerebral atrophy, Delayed myelination, Eyelid myoclonus, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hepatomegaly, Jaundice, Megaloblastic anemia, Pallor, Pancytopenia, Poor head control, Postnatal microcephaly, Thrombocytopenia, Variable expressivity
U2	CDC6	1.842621489	3.26E-09	Cell cycle control protein	BrainSpLMD|990	OMIM|602627;HPO|990|Abnormality of epiphysis morphology, Abnormality of the ribs, Anotia, Aplastic clavicles, Atresia of the external auditory canal, Autosomal recessive inheritance, Birth length less than 3rd percentile, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Craniosynostosis, Cryptorchidism, Delayed skeletal maturation, Elbow dislocation, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, High, narrow palate, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Intrauterine growth retardation, Irregular femoral epiphysis, Joint hyperflexibility, Long philtrum, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Micropenis, Microtia, Microtia, third degree, Mild global developmental delay, Motor delay, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Prominent metopic ridge, Respiratory distress, Respiratory failure, Retrognathia, Severe short stature, Slender long bone, Small earlobe, Triangular face
U2	NUCB1	1.052883448	3.29E-09	Calcium binding protein		OMIM|601323
U2	COPZ2	1.475004615	3.46E-09	Transport/cargo protein	BrainSpLMD|51226	OMIM|615526
U2	CEP112	1.383465217	3.61E-09	Unclassified	BrainSpLMD|201134	
U2	PCSK5	0.810152629	3.61E-09	Serine protease	BrainSpLMD|5125	OMIM|600488
U2	CAPZA1	0.555304349	3.62E-09	Structural protein	BrainSpLMD|829;Eurexp|euxassay_000273|head mesenchyme, lung	OMIM|601580
U2	PIP4K2A	0.751432432	3.72E-09	Lipid Kinase	BrainSpLMD|5305;Eurexp|euxassay_018594|basal plate, dorsal root ganglion, foregut-midgut junction, head mesenchyme, hindgut, incisor, lobe, loop, lumen, mantle layer, medullary stroma, mesenchyme, midgut, olfactory, rectum, stomach, testis, thymus primordium, ventral grey horn, vertebral axis muscle system, vomeronasal organ	OMIM|603140
U2	RPS4Y1	0.621549049	3.81E-09	Ribosomal subunit	BrainSpLMD|6192;BrainSpMouseDev|19865	OMIM|470000
U2	NFATC1	1.223794485	3.88E-09	Transcription factor	BrainSpLMD|4772;BrainSpMouseDev|17785	OMIM|600489
U2	SNORD114.26	1.50793952	4.15E-09			
U2	RPS3	0.665791952	4.23E-09	Ribosomal subunit		OMIM|600454
U2	BACE2	1.444669762	4.30E-09	Protease	BrainSpLMD|25825	OMIM|605668
U2	PLIN3	1.872015795	4.40E-09	Transport/cargo protein	BrainSpLMD|10226;Eurexp|euxassay_007119|bladder, choroid plexus, metanephros, midgut, nasal septum, nucleus pulposus, skeletal muscle, stomach, turbinate bones, urethra, vascular element	OMIM|602702
U2	MXRA5	2.080071244	4.43E-09	Unclassified	BrainSpLMD|25878	OMIM|300938
U2	CTSC	1.070655738	4.44E-09	Cysteine protease	BrainSpLMD|1075	OMIM|602365;HPO|1075|Abnormality of the fingernails, Abnormality of the skin, Arachnodactyly, Atrophy of alveolar ridges, Autosomal recessive inheritance, Cerebral calcification, Choroid plexus calcification, Chronic furunculosis, Congenital palmoplantar keratosis, Gingival recession, Gingivitis, Heterogeneous, Nail dystrophy, Osteolytic defects of the phalanges of the hand, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Pes planus, Premature loss of primary teeth, Premature loss of teeth, Pustule, Recurrent bacterial skin infections, Recurrent cutaneous abscess formation, Recurrent respiratory infections, Reduced number of teeth, Severe periodontitis, Tapering pointed ends of distal finger phalanges, Thick nail
U2	MRC2	1.157115673	4.53E-09	Cell surface receptor	BrainSpLMD|9902;Eurexp|euxassay_009360|mandible, maxilla, meninges, mesenchyme, temporal bone	OMIM|612264
U2	ARHGEF39	1.24107122	4.66E-09	Guanine nucleotide exchange factor;Unclassified		
U2	SEMA3A	1.334213226	4.77E-09	Ligand	BrainSpLMD|10371;BrainSpMouseDev|20109	OMIM|603961;HPO|10371|Abnormality of the voice, Anosmia, Anterior hypopituitarism, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Delayed puberty, Erectile abnormalities, Hypogonadotrophic hypogonadism, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Reduced bone mineral density
U2	PKDCC	2.922324979	4.83E-09	Unclassified		OMIM|614150
U2	MDK	1.175086496	4.96E-09	Cytokine	BrainSpLMD|4192;Eurexp|euxassay_000525|anal region, gut, head mesenchyme, lung, mesenchyme, metanephros, penis, physiological umbilical hernia, spleen primordium, trunk mesenchyme, ventricular layer	OMIM|162096
U2	HMGN3	0.512545767	5.23E-09	DNA binding protein	BrainSpLMD|9324;Eurexp|euxassay_010528|lens, olfactory;BrainSpMouseDev|60980	OMIM|604502
U2	CD81	0.884983837	5.26E-09	Enzyme: Oxidase	BrainSpLMD|975;Eurexp|euxassay_012630|choroid plexus, mantle layer, stomach, ventral grey horn, ventricular layer	OMIM|186845;HPO|975|Anal atresia, Autoimmune thrombocytopenia, Autosomal recessive inheritance, Brachycephaly, Bronchiectasis, Chronic otitis media, Decreased antibody level in blood, Elevated hepatic transaminases, Hemolytic anemia, Immunodeficiency, Lymphadenopathy, Lymphopenia, Pneumonia, Purpura, Recurrent bacterial infections, Recurrent bronchitis, Recurrent respiratory infections, Splenomegaly
U2	METAP2	0.624834791	5.30E-09	Translation regulatory protein	BrainSpLMD|10988	OMIM|601870
U2	TBL1XR1	0.279036932	5.42E-09	Transcription regulatory protein	BrainSpLMD|79718;Eurexp|euxassay_006481|thymus primordium	SFARI||Autism, 2 - Strong candidate;OMIM|608628;COSMIC||splenic marginal zone lymphoma, primary central nervous system lymphoma, colorectal carcinoma, gallbladder carcinoma;HPO|79718|Abnormal peripheral nervous system morphology, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Brachycephaly, Brachydactyly, Broad face, Broad foot, Broad hallux, Broad palm, Broad philtrum, Broad thumb, Cognitive impairment, Cone-shaped epiphyses of the phalanges of the hand, Decreased body weight, Deep palmar crease, Deep plantar creases, Deeply set eye, Delayed speech and language development, Dysarthria, Enuresis nocturna, Everted lower lip vermilion, Feeding difficulties in infancy, Full cheeks, Global developmental delay, High anterior hairline, High forehead, High palate, Hyperreflexia, Hypertelorism, Hypoplastic areola, Intellectual disability, Large fleshy ears, Long upper lip, Malar flattening, Microcephaly, Midface retrusion, Narrow face, Nasal speech, Pectus carinatum, Pectus excavatum, Pes planus, Phenotypic variability, Posteriorly rotated ears, Progressive spastic paraplegia, Scissor gait, Short finger, Short foot, Short metacarpal, Short metatarsal, Short neck, Short nose, Short palm, Short phalanx of finger, Short stature, Short toe, Smooth philtrum, Telecanthus, Unilateral narrow palpebral fissure, Wide intermamillary distance, Wide nose, Widely spaced teeth
U2	STT3A	1.021643893	5.61E-09	Integral membrane protein	BrainSpLMD|3703;Eurexp|euxassay_004591|clavicle, mandible, maxilla, orbito-sphenoid, rib, turbinate bones	OMIM|601134;HPO|3703|Abnormal glycosylation, Autosomal recessive inheritance, Cerebellar atrophy, Congenital onset, Cryptorchidism, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Impaired smooth pursuit, Intellectual disability, Microcephaly, Micropenis, Scrotal hypoplasia, Seizures
U2	PPT1	0.76000864	5.79E-09	Enzyme: Hydrolase	BrainSpLMD|5538;Eurexp|euxassay_018600|primitive seminiferous tubules, thymus primordium, ventricular layer	OMIM|600722;HPO|5538|Abnormality of metabolism/homeostasis, Ataxia, Autosomal recessive inheritance, Blindness, Cerebral atrophy, Decreased light- and dark-adapted electroretinogram amplitude, Depressivity, EEG abnormality, Flexion contracture, Generalized hypotonia, Global developmental delay, Hallucinations, Increased neuronal autofluorescent lipopigment, Intellectual disability, Irritability, Loss of speech, Macular degeneration, Myoclonus, Onset, Optic atrophy, Postnatal microcephaly, Progressive microcephaly, Progressive visual loss, Psychomotor deterioration, Retinal degeneration, Seizures, Sleep disturbance, Spasticity, Undetectable electroretinogram
U2	NET1	2.177880481	5.88E-09	Guanine nucleotide exchange factor	BrainSpLMD|10276	OMIM|606450
U2	LSM3	0.416397721	5.93E-09	RNA binding protein	BrainSpLMD|27258	OMIM|607283
U2	C21orf58	1.116563862	5.94E-09	Unclassified	BrainSpLMD|54058	
U2	HAUS4	1.406293822	5.99E-09	Unclassified	BrainSpLMD|54930;Eurexp|euxassay_012110|Meckel's cartilage, axial muscle, axial skeleton, basioccipital bone, basisphenoid bone, cricoid, femur, fibula, humerus, hyoid bone, metacarpus, metatarsus, naris, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, rib, scapula, sternum, thyroid, tibia, turbinate bones	OMIM|613431
U2	NOTCH2	0.30006472	6.03E-09	Cell surface receptor	BrainSpLMD|4853;Eurexp|euxassay_015406|alimentary system, cardiovascular system, cavities and their linings, choroid plexus, gland, integumental system, limb, marginal layer, meninges, mesenchyme, olfactory, renal/urinary system, reproductive system, respiratory system, skeleton, tail, ventricular layer, vertebral axis muscle system, vomeronasal organ;BrainSpMouseDev|17896	OMIM|600275;COSMIC||marginal zone lymphoma, DLBCL, bladder, Hajdu-Cheney syndrome, serpentine fibula-polycystic kidney syndrome;HPO|4853|Abnormality of the cardiac septa, Abnormality of the fingernails, Absent frontal sinuses, Anteverted nares, Arnold-Chiari malformation, Arthralgia, Atrial septal defect, Autosomal dominant inheritance, Basilar impression, Biconcave vertebral bodies, Bone pain, Brachydactyly, Broad forehead, Cervical instability, Cholestasis, Cholestatic liver disease, Coarse facial features, Conductive hearing impairment, Crowded carpal bones, Cryptorchidism, Decreased skull ossification, Dental malocclusion, Dislocated radial head, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Elongated sella turcica, Epicanthus, Failure to thrive, Foot acroosteolysis, Full cheeks, Generalized hirsutism, Genu valgum, Hearing impairment, Hematuria, High palate, Hirsutism, Hydrocephalus, Hypertelorism, Hypertension, Hypoplastic 5th lumbar vertebrae, Hypospadias, Inguinal hernia, Joint hyperflexibility, Joint laxity, Kyphoscoliosis, Large earlobe, Long eyelashes, Long nose, Long philtrum, Low-set ears, Macrocephaly, Micrognathia, Narrow mouth, Open bite, Osteolysis, Osteolytic defects of the phalanges of the hand, Osteopenia, Osteoporosis, Partial absence of toe, Patent ductus arteriosus, Pathologic fracture, Periodontitis, Peripheral pulmonary artery stenosis, Phenotypic variability, Platybasia, Pointed chin, Posterior embryotoxon, Premature loss of teeth, Prominent occiput, Proteinuria, Pulmonic stenosis, Recurrent fractures, Renal cyst, Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Scoliosis, Short distal phalanx of finger, Short nail, Short neck, Short stature, Short toe, Skeletal dysplasia, Synophrys, Tall lumbar vertebral bodies, Telecanthus, Tetralogy of Fallot, Thick eyebrow, Thin vermilion border, Triangular face, Umbilical hernia, Vertebral compression fractures, Wide nose, Wormian bones
U2	SEC23A	1.502625582	6.18E-09	Transport/cargo protein	BrainSpLMD|10484;Eurexp|euxassay_010377|clavicle, mandible, maxilla, orbito-sphenoid, rib, turbinate bones	OMIM|610511;HPO|10484|Anteverted nares, Autosomal recessive inheritance, Brittle hair, Capillary hemangiomas, Carious teeth, Coarse hair, Cryptorchidism, Decreased skull ossification, Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Forehead hyperpigmentation, Frontal bossing, High iliac wings, Hyperpigmentation of the skin, Hypertelorism, Hypoplasia of teeth, Hypoplasia of the maxilla, Joint laxity, Large fontanelles, Long philtrum, Macrocephaly, Malar flattening, Microdontia, Midface retrusion, Narrow chest, Narrow iliac wings, Pes planus, Posterior Y-sutural cataract, Posterior wedging of vertebral bodies, Premature loss of teeth, Prominent nasal bridge, Prominent supraorbital ridges, Punctate cataract, Scoliosis, Short stature, Skeletal dysplasia, Smooth philtrum, Sparse hair, Sutural cataract, Thin upper lip vermilion, Thin vermilion border, Wide anterior fontanel, Wide mouth, Wide nasal bridge, Wide nose
U2	PGM1	1.92244996	6.44E-09	Enzyme: Mutase	BrainSpLMD|5236	OMIM|171900
U2	PCDH7	1.413231245	6.51E-09	Adhesion molecule	BrainSpLMD|5099;Eurexp|euxassay_009713|bladder, dorsal root ganglion, mantle layer, mesenchyme, olfactory, stomach, trigeminal V, vestibulocochlear VIII	OMIM|602988
U2	ATP8B3	1.66204138	6.53E-09	ATPase	BrainSpLMD|148229	OMIM|605866
U2	TLN1	0.845834203	6.84E-09	Cytoskeletal associated protein	BrainSpLMD|7094;Eurexp|euxassay_011794|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	OMIM|186745
U2	EEF1A1P5	0.507304964	6.99E-09			
U2	SAE1	1.279915848	7.33E-09	Enzyme: Ligase	BrainSpLMD|10055;Eurexp|euxassay_005976|embryo	SFARI||Autism, No category;OMIM|613294
U2	AEBP1	2.69393812	7.40E-09	Transcription regulatory protein	BrainSpLMD|165	OMIM|602981
U2	RWDD4	0.768648134	7.43E-09	Unclassified	BrainSpLMD|201965	
U2	C1R	1.689375936	7.46E-09	Complement protein	BrainSpLMD|715	OMIM|613785;HPO|715|Agenesis of permanent teeth, Alveolar bone loss around teeth, Arthralgia, Arthritis, Atrophic scars, Atrophy of alveolar ridges, Autoimmunity, Autosomal dominant inheritance, Autosomal recessive inheritance, Blue sclerae, Bruising susceptibility, Complement deficiency, Discoid lupus rash, Gingival bleeding, Gingival overgrowth, Gingival recession, Hoarse voice, Hyperextensible skin, Hypermelanotic macule, Inguinal hernia, Joint hyperflexibility, Joint laxity, Microdontia, Nephritis, Palmoplantar cutis laxa, Periodontitis, Poor wound healing, Premature loss of teeth, Recurrent bronchitis, Short stature, Soft skin, Thin skin
U2	BSG	0.532897834	7.85E-09	Cell surface receptor	BrainSpLMD|682	OMIM|109480
U2	TMEM258	0.736126457	7.88E-09	Integral membrane protein	BrainSpLMD|746	OMIM|617615
U2	GEM	1.727296849	8.44E-09	G protein	BrainSpLMD|2669;Eurexp|euxassay_003192|adrenal gland, clavicle, dorsal grey horn, incisor, molar, oesophagus, testis, ventricular layer, vibrissa	OMIM|600164
U2	LIN54	1.248126852	8.73E-09	Unclassified	BrainSpLMD|132660	OMIM|613367
U2	PIGT	1.160221155	8.88E-09	Enzyme: Aminotransferase	BrainSpLMD|51604	OMIM|610272;HPO|51604|Abdominal pain, Abnormality of the dentition, Arthralgia, Autosomal dominant inheritance, Autosomal recessive inheritance, Brachycephaly, Cerebellar hypoplasia, Cerebral atrophy, Deep philtrum, Delayed skeletal maturation, Depressed nasal bridge, Diarrhea, Downturned corners of mouth, Dyspnea, EEG abnormality, Fatigue, Generalized hypotonia, Global developmental delay, Headache, Hemolytic anemia, High forehead, High palate, Hypercalciuria, Hypermetropia, Hypoplasia of the ulna, Infantile onset, Inverted nipples, Large for gestational age, Long philtrum, Macrocephaly, Narrow forehead, Nephrocalcinosis, Nystagmus, Open mouth, Osteopenia, Osteoporosis, Paroxysmal nocturnal hemoglobinuria, Patent ductus arteriosus, Pectus excavatum, Renal cyst, Restrictive cardiomyopathy, Scoliosis, Seizures, Somatic mutation, Strabismus, Ureteral stenosis, Urticaria, Visual impairment
U2	SDCBP	0.785818677	9.26E-09	Adapter molecule	BrainSpLMD|6386;Eurexp|euxassay_008333|naris, olfactory, respiratory	OMIM|602217
U2	MIER1	0.414389872	9.34E-09	Transcription regulatory protein	BrainSpLMD|57708	OMIM|616848
U2	LAMA2	2.016285377	9.42E-09	Extracellular matrix protein	BrainSpLMD|3908	OMIM|156225;HPO|3908|Abnormal brainstem MRI signal intensity, Abnormal cortical gyration, Abnormality of the temporomandibular joint, Areflexia, Aspiration, Astrocytosis, Autosomal recessive inheritance, Cerebral edema, Chewing difficulties, Congenital muscular dystrophy, Congenital onset, Elevated serum creatine phosphokinase, Facial palsy, Feeding difficulties in infancy, Flexion contracture, Gastroesophageal reflux, Generalized hypotonia, Highly elevated creatine phosphokinase, Hypointensity of cerebral white matter on MRI, Hypokinesia, Inability to walk, Increased connective tissue, Intellectual disability, Kyphoscoliosis, Macroglossia, Motor delay, Muscle fiber atrophy, Muscular dystrophy, Myositis, Recurrent lower respiratory tract infections, Respiratory failure, Respiratory insufficiency due to muscle weakness, Seizures, Weak cry
U2	PGM3	1.375767429	9.48E-09	Enzyme: Mutase	BrainSpLMD|5238	OMIM|172100;HPO|5238|Allergic rhinitis, Asthma, Ataxia, Autosomal recessive inheritance, Bronchiectasis, Cognitive impairment, Conductive hearing impairment, Cortical myoclonus, Dysarthria, Eczema, Generalized hypotonia, Global developmental delay, High palate, Immunodeficiency, Intellectual disability, Lymphopenia, Neutropenia, Recurrent respiratory infections, Scoliosis, Sensorineural hearing impairment, Sensory impairment, Vasculitis in the skin
U2	GLB1	1.367073374	9.78E-09	Enzyme: Hydroxylase	BrainSpLMD|2720	OMIM|611458;HPO|2720|Abnormality of blood and blood-forming tissues, Abnormality of the face, Abnormality of the heart valves, Abnormality of the liver, Abnormality of the spleen, Abnormality of the urinary system, Angiokeratoma corporis diffusum, Anterior beaking of lumbar vertebrae, Aortic valve stenosis, Ataxia, Autosomal recessive inheritance, Beaking of vertebral bodies, Carious teeth, Cerebral atrophy, Cerebral degeneration, Cervical myelopathy, Cervical subluxation, Cherry red spot of the macula, Coarse facial features, Congestive heart failure, Constricted iliac wings, Coxa valga, Death in infancy, Decreased beta-galactosidase activity, Depressed nasal ridge, Developmental stagnation, Diffuse cerebral atrophy, Dilated cardiomyopathy, Disproportionate short-trunk short stature, Dystonia, Epiphyseal deformities of tubular bones, Flared iliac wings, Flaring of rib cage, Foam cells, Frontal bossing, Gait disturbance, Generalized myoclonic seizures, Genu valgum, Gingival overgrowth, Grayish enamel, Hearing impairment, Hepatomegaly, Hyperlordosis, Hypertelorism, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoplasia of the odontoid process, Hypoplastic acetabulae, Hypoplastic vertebral bodies, Inguinal hernia, Intellectual disability, Intellectual disability, mild, Intimal thickening in the coronary arteries, Joint laxity, Joint stiffness, Juvenile onset, Keratan sulfate excretion in urine, Kyphosis, Mandibular prognathia, Metaphyseal widening, Opacification of the corneal stroma, Optic atrophy, Osteoporosis, Ovoid vertebral bodies, Platyspondyly, Pointed proximal second through fifth metacarpals, Progressive psychomotor deterioration, Prominent sternum, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Scoliosis, Sea-blue histiocytosis, Severe short stature, Short neck, Short stature, Skeletal muscle atrophy, Slurred speech, Spastic tetraplegia, Splenomegaly, Thickened ribs, Ulnar deviation of the wrist, Vacuolated lymphocytes, Ventriculomegaly, Wide mouth, Widely spaced teeth
U2	RPLP1	0.807659177	9.80E-09	Ribosomal subunit		OMIM|180520
U2	MTBP	1.892761035	9.85E-09	Cell junction protein	BrainSpLMD|27085;Eurexp|euxassay_005329|ventricular layer	OMIM|605927
U2	PLSCR4	2.006541262	9.86E-09	Transport/cargo protein	BrainSpLMD|57088;Eurexp|euxassay_010505|oesophagus	OMIM|607612
U2	MPZL2	3.350948447	1.01E-08	Adhesion molecule	BrainSpLMD|10205	OMIM|604873
U2	RPA1	1.345424937	1.06E-08	DNA binding protein	BrainSpLMD|6117;Eurexp|euxassay_008207|ventricular layer	OMIM|179835
U2	TOPBP1	0.733856566	1.08E-08	Cell cycle control protein;Transcription regulatory protein	BrainSpLMD|11073	OMIM|607760
U2	C6orf48	0.677285102	1.08E-08	Unclassified	BrainSpLMD|50854	OMIM|605447
U2	UQCC2	0.748237551	1.09E-08	Unclassified	BrainSpLMD|84300;Eurexp|euxassay_000835|basal plate, epidermal component, facial VII, submandibular gland primordium, trigeminal V, ventricular layer	OMIM|614461;HPO|84300|Aggressive behavior, Autosomal recessive inheritance, Cryptorchidism, Depressed nasal bridge, Epicanthus, Global developmental delay, Hyperactivity, Infantile onset, Intrauterine growth retardation, Metabolic acidosis, Neonatal hypotonia, Poor speech, Postaxial polydactyly, Proximal renal tubular acidosis, Seizures, Synophrys, Upslanted palpebral fissure
U2	RAD51AP1	1.159382717	1.11E-08	DNA binding protein	BrainSpLMD|10635;Eurexp|euxassay_010685|ventricular layer	OMIM|603070
U2	SEMA4A	1.237409812	1.11E-08	Cell surface receptor	BrainSpLMD|64218;BrainSpMouseDev|20114	OMIM|607292;HPO|64218|Abnormal electroretinogram, Abnormality of color vision, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Cone/cone-rod dystrophy, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Increased lacrimation, Intellectual disability, Keratoconus, Macular degeneration, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Peripheral visual field loss, Photophobia, Progressive night blindness, Progressive visual loss, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
U2	ZNF732	1.935532389	1.12E-08			
U2	TEX30	1.479470157	1.18E-08	Unclassified	BrainSpLMD|93081;Eurexp|euxassay_007574|ventricular layer	
U2	TBC1D4	0.830187142	1.19E-08	GTPase activating protein	BrainSpLMD|9882	OMIM|612465
U2	C1orf54	1.379200674	1.19E-08	Unclassified	BrainSpLMD|79630	
U2	ING1	0.566210843	1.20E-08	Transcription regulatory protein	BrainSpLMD|3621	OMIM|601566;HPO|3621|Autosomal recessive inheritance, Squamous cell carcinoma
U2	CEP55	2.179025836	1.21E-08	Unclassified	BrainSpLMD|55165	OMIM|610000;HPO|55165|2-3 toe syndactyly, Autosomal recessive inheritance, Hydranencephaly, Renal agenesis, Renal dysplasia, Renal hypoplasia
U2	FKBP5	1.446477062	1.22E-08	Enzyme: Isomerase	BrainSpLMD|2289;Eurexp|euxassay_002327|thymus primordium	OMIM|602623
U2	PDIA5	1.278675288	1.25E-08	Chaperone	BrainSpLMD|10954;Eurexp|euxassay_010598|clavicle, mandible, maxilla, orbito-sphenoid, rib	OMIM|616942
U2	NCAPD3	1.873674804	1.31E-08	Unclassified	BrainSpLMD|23310	OMIM|609276
U2	BMP1	0.729943703	1.32E-08	Metallo protease	BrainSpLMD|649;BrainSpMouseDev|11939	OMIM|112264;HPO|649|Autosomal recessive inheritance, Platyspondyly, Skeletal muscle atrophy, Triangular face
U2	RAD21	1.001959026	1.33E-08	DNA binding protein	BrainSpLMD|5885	OMIM|606462;COSMIC||AML, endometrium, colorectal, lung, Cornelia de Lange syndrome-4;HPO|5885|Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Clinodactyly of the 5th finger, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downturned corners of mouth, Elbow dislocation, Exostoses, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phenotypic variability, Phthisis bulbi, Premature birth, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Smooth philtrum, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Vesicoureteral reflux, Wide nasal bridge, Widely spaced teeth
U2	ANO6	0.968956952	1.37E-08	Integral membrane protein		OMIM|608663;HPO|196527|Abnormal bleeding, Autosomal recessive inheritance, Factor X activation deficiency
U2	NOSTRIN	1.297742966	1.49E-08	Unclassified	BrainSpLMD|115677	OMIM|607496
U2	SIVA1	0.824608649	1.49E-08	Unclassified;Cell surface receptor	BrainSpLMD|10572	OMIM|605567
U2	ZCCHC24	1.936573717	1.50E-08	DNA binding protein	BrainSpLMD|219654	
U2	ITGB1P1	1.275901796	1.54E-08			
U2	RPS12	0.697151774	1.60E-08	Ribosomal subunit	BrainSpMouseDev|19805	OMIM|603660
U2	NANS	1.219217996	1.65E-08	Enzyme: Synthase	BrainSpLMD|54187;Eurexp|euxassay_012123|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, metatarsus, naris, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rest of skin, rib, scapula, tarsus, tibia, turbinate bones, vault of skull	OMIM|605202;HPO|54187|Abnormality of the pinna, Abnormality of the skin, Ataxia, Autosomal recessive inheritance, Brachycephaly, Carpal bone hypoplasia, Coarse facial features, Epicanthus, Flared metaphysis, Flat acetabular roof, Generalized hypotonia, Hirsutism, Intellectual disability, severe, Irregular epiphyses, Irregular vertebral endplates, Long fibula, Low anterior hairline, Low posterior hairline, Metaphyseal irregularity, Microcephaly, Narrow iliac wings, Nystagmus, Platyspondyly, Posterior scalloping of vertebral bodies, Prominent forehead, Short femoral neck, Short neck, Small epiphyses, Spondyloepimetaphyseal dysplasia, Synophrys, Thick lower lip vermilion, Wide nose
U2	CDC20	1.826593421	1.66E-08	Cell cycle control protein	BrainSpLMD|991;Eurexp|euxassay_005724|hypothalamus, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|603618
U2	BOC	1.086015743	1.67E-08	Cell surface receptor	BrainSpLMD|91653;Eurexp|euxassay_005272|intermediate grey horn, mantle layer, marginal layer, mesenchyme, trachea, ventricular layer;BrainSpMouseDev|78669	OMIM|608708
U2	MAGED2	0.831834674	1.68E-08	Unclassified	BrainSpLMD|10916	OMIM|300470;HPO|10916|Fetal polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Hyponatremia, Increased circulating renin level, Medullary nephrocalcinosis, Polyhydramnios, Polyuria, Premature birth, X-linked recessive inheritance
U2	CDK6	0.299156609	1.70E-08	Cell cycle control protein	BrainSpLMD|1021	OMIM|603368;COSMIC||ALL;HPO|1021|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Cortical gyral simplification, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
U2	RP11.269F19.2	1.364137682	1.73E-08			
U2	DR1	1.307893197	1.77E-08	Transcription regulatory protein	BrainSpLMD|1810	OMIM|601482
U2	DSE	1.149073057	1.79E-08	Unclassified	BrainSpLMD|29940	OMIM|605942;HPO|29940|Adducted thumb, Arachnodactyly, Autosomal recessive inheritance, Blue sclerae, Brachycephaly, Delayed gross motor development, Dental crowding, Downslanted palpebral fissures, Frontal bossing, Generalized muscle weakness, High palate, Inguinal hernia, Patent foramen ovale, Protruding ear, Talipes equinovarus, Telecanthus
U2	TMED7	0.86953822	1.80E-08	Unclassified		
U2	YBX3	0.445812822	1.82E-08	DNA binding protein	BrainSpLMD|8531	OMIM|603437
U2	SLC40A1	1.888984803	1.83E-08	Transport/cargo protein	BrainSpLMD|30061;Eurexp|euxassay_003910|bladder, brain, cervical region, footplate, handplate, liver, lumbar region, lung, mesenchyme, metanephros, midgut, rectum, renal/urinary system, rib, sacral region, spinal cord, thoracic region, vibrissa;BrainSpMouseDev|33240	OMIM|604653;HPO|30061|Abdominal pain, Arrhythmia, Arthralgia, Autosomal dominant inheritance, Cardiomyopathy, Cataract, Fatigue, Generalized hyperpigmentation, Glucose intolerance, Hepatic steatosis, Impotence, Increased serum ferritin, Joint dislocation, Joint swelling, Limitation of joint mobility, Osteoarthritis
U2	PARPBP	1.982521322	1.85E-08	Unclassified	BrainSpLMD|55010	OMIM|613687
U2	NDUFAF3	0.664775335	2.08E-08	Unclassified	BrainSpLMD|25915;Eurexp|euxassay_006731|olfactory	OMIM|612911;HPO|25915|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
U2	HSPA8	0.293727091	2.09E-08	Heat shock protein	BrainSpLMD|3312	OMIM|600816
U2	CNIH1	1.02275186	2.14E-08	Integral membrane protein	BrainSpLMD|10175	OMIM|611287
U2	IQGAP1	1.127828726	2.17E-08	GTPase activating protein	BrainSpLMD|8826;Eurexp|euxassay_010153|choroid plexus, epithelium, hindgut, lung, mandible, metanephros, midgut, oral epithelium, orbito-sphenoid, vibrissa	OMIM|603379
U2	ALDH7A1	1.332297394	2.19E-08	Enzyme: Oxidoreductase	BrainSpLMD|501	OMIM|107323;HPO|501|Abnormality of metabolism/homeostasis, Abnormality of movement, Autosomal recessive inheritance, Delayed speech and language development, EEG abnormality, Fetal distress, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Intellectual disability, Muscular hypotonia, Neonatal respiratory distress, Neurological speech impairment, Prenatal movement abnormality, Respiratory distress, Status epilepticus
U2	EML4	0.801106722	2.19E-08	Structural protein	BrainSpLMD|27436	OMIM|607442;COSMIC||NSCLC
U2	ARHGAP11B	1.432970166	2.20E-08	Unclassified		SFARI||Autism, No category;OMIM|616310
U2	HSPH1	0.502262714	2.26E-08	Heat shock protein;Chaperone	BrainSpLMD|10808	OMIM|610703
U2	DUT	0.560619907	2.33E-08	Enzyme: Hydrolase	BrainSpLMD|1854	OMIM|601266
U2	FAM72C	1.439515837	2.36E-08			OMIM|616853
U2	CD44	1.994065978	2.41E-08	Cell surface receptor	BrainSpLMD|960;Eurexp|euxassay_011897|axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, orbito-sphenoid, petrous part, scapula, tibia, turbinate;BrainSpMouseDev|12290	SFARI||Autism, 5 - Hypothesized but untested;OMIM|107269
U2	EIF2S2P4	0.413566908	2.47E-08			
U2	SAV1	1.715537592	2.52E-08	Transcription regulatory protein	BrainSpLMD|60485	OMIM|607203
U2	PSAP	0.341208245	2.52E-08	Integral membrane protein	BrainSpLMD|5660	OMIM|176801;HPO|5660|Abnormality of eye movement, Abnormality of glycosphingolipid metabolism, Abnormality of the periventricular white matter, Anemia, Autosomal recessive inheritance, Babinski sign, CNS demyelination, Central apnea, Cerebral dysmyelination, Congenital onset, Death in childhood, Death in infancy, Decreased nerve conduction velocity, Developmental regression, Dysarthria, Dysphagia, Dystonia, Erlenmeyer flask deformity of the femurs, Fasciculations, Feeding difficulties, Gait ataxia, Generalized clonic seizures, Generalized hypotonia, Generalized tonic-clonic seizures, Global brain atrophy, Global developmental delay, Hepatomegaly, Hepatosplenomegaly, Hyperkinesis, Hyperreflexia, Hypertonia, Hypoplasia of the corpus callosum, Hyporeflexia, Increased CSF protein, Increased cerebral lipofuscin, Infantile onset, Loss of speech, Mental deterioration, Muscle weakness, Muscular hypotonia, Myoclonus, Neuronal loss in central nervous system, Osteopenia, Peripheral demyelination, Polyneuropathy, Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Seizures, Spastic tetraparesis, Splenomegaly, Thrombocytopenia, Urinary incontinence, Variable expressivity
U2	SEC31A	1.140756386	2.52E-08	Transport/cargo protein	BrainSpLMD|22872	OMIM|610257
U2	TUBG1	1.512095749	2.52E-08	Cytoskeletal protein	BrainSpLMD|7283	OMIM|191135;HPO|7283|Autosomal dominant inheritance, Cortical dysplasia, Global developmental delay, Microcephaly, Seizures, Variable expressivity
U2	PPAP2A	2.095437548	2.53E-08			
U2	AAED1	0.607892377	2.54E-08	Unclassified		
U2	SLFN13	2.649416045	2.56E-08	Cell cycle control protein	BrainSpLMD|146857	OMIM|614957
U2	DOCK10	1.90881151	2.58E-08	Unclassified	BrainSpLMD|55619;Eurexp|euxassay_011695|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thymus primordium, thyroid, trigeminal V, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|611518
U2	LRIG3	0.942347616	2.62E-08	Unclassified	BrainSpLMD|121227	OMIM|608870;COSMIC||NSCLC
U2	NDE1	0.572885866	2.79E-08	Cytoskeletal associated protein	BrainSpLMD|54820;Eurexp|euxassay_010375|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ;BrainSpMouseDev|43046	OMIM|609449;HPO|54820|Agenesis of corpus callosum, Athetosis, Autosomal recessive inheritance, Cerebellar hypoplasia, Congenital onset, Cortical gyral simplification, Generalized myoclonic seizures, Global developmental delay, Hydranencephaly, Hyperreflexia, Hypoplasia of the brainstem, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Lissencephaly, Macrotia, Microcephaly, Multiple joint contractures, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Proptosis, Seizures, Self-mutilation, Short stature, Skeletal muscle atrophy, Sloping forehead, Spastic tetraplegia, Talipes equinovarus, Ventriculomegaly
U2	TNFAIP8	2.017344357	2.85E-08	Unclassified	BrainSpLMD|25816;Eurexp|euxassay_009284|axial skeleton, choroid plexus, cricoid, nasal septum, pectoral girdle and thoracic body wall, submandibular gland primordium, thymus primordium, thyroid, trachea, turbinate bones, ventricular layer	OMIM|612111
U2	PRDX3	0.898354814	2.93E-08	Enzyme: Peroxidase	BrainSpLMD|10935;Eurexp|euxassay_006583|adrenal gland, liver, ovary, thymus primordium, thyroid	OMIM|604769
U2	ARHGEF10	0.66198622	2.95E-08	Guanine nucleotide exchange factor	BrainSpLMD|9639	OMIM|608136;HPO|9639|Adult onset, Autosomal dominant inheritance, Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination
U2	CPS1	1.185257836	2.97E-08	Enzyme: Ligase	BrainSpLMD|1373;Eurexp|euxassay_009574|midgut	OMIM|608307;HPO|1373|Aminoaciduria, Ataxia, Autosomal recessive inheritance, Cerebral edema, Coma, Episodic ammonia intoxication, Failure to thrive, Global developmental delay, Hyperammonemia, Hypoargininemia, Intellectual disability, Irritability, Lethargy, Low plasma citrulline, Muscular hypotonia, Protein avoidance, Respiratory alkalosis, Respiratory insufficiency, Seizures, Vomiting
U2	CDC25B	2.007320337	3.08E-08	Dual specificity phosphatase	BrainSpLMD|994	OMIM|116949
U2	C4orf46	1.255060532	3.13E-08	Unclassified		OMIM|616210
U2	KLHL15	2.037638887	3.18E-08	Unclassified		OMIM|300980;HPO|80311|Absent speech, Anteverted nares, Coarse facial features, Cryptorchidism, Global developmental delay, Intellectual disability, Micropenis, Polymicrogyria, Seizures, Ventriculomegaly, Wide mouth, X-linked recessive inheritance
U2	PTBP1	1.034188699	3.29E-08	Ribonucleoprotein	BrainSpLMD|5725	OMIM|600693
U2	SNX24	0.774703712	3.35E-08	Transport/cargo protein	BrainSpLMD|28966	
U2	H2AFX	0.946301151	3.38E-08	DNA binding protein	BrainSpLMD|3014;Eurexp|euxassay_002718|ventricular layer	OMIM|601772
U2	TCF7L1	0.530920802	3.40E-08	Transcription regulatory protein	BrainSpLMD|83439;BrainSpMouseDev|21176	OMIM|604652
U2	CARD8	1.046107964	3.44E-08	Adapter molecule	BrainSpLMD|22900	OMIM|609051
U2	TTF2	1.170553412	3.50E-08	Transcription regulatory protein	BrainSpLMD|8458;Eurexp|euxassay_012438|ventricular layer;BrainSpMouseDev|49885	OMIM|604718
U2	PPIL4	0.414633832	3.73E-08	Chaperone	BrainSpLMD|85313	OMIM|607609
U2	RASSF8	2.453924763	3.85E-08	Unclassified	BrainSpLMD|11228;Eurexp|euxassay_008525|mantle layer	OMIM|608231
U2	TALDO1	0.367519781	3.85E-08	Enzyme: Transaldolase	BrainSpLMD|6888	OMIM|602063;HPO|6888|Abnormal facial shape, Abnormality of glutamine metabolism, Abnormality of the clitoris, Abnormality of the kidney, Anemia, Asthma, Autosomal recessive inheritance, Cirrhosis, Clitoral hypertrophy, Coarctation of aorta, Decreased liver function, Deep philtrum, Depressed nasal bridge, Failure to thrive, Hepatic fibrosis, Hepatomegaly, Hepatosplenomegaly, Hydrops fetalis, Increased serum bile acid concentration, Intrauterine growth retardation, Low-set ears, Micronodular cirrhosis, Oligohydramnios, Pancytopenia, Patent ductus arteriosus, Patent foramen ovale, Poor suck, Premature skin wrinkling, Short philtrum, Small for gestational age, Splenomegaly, Synophrys, Telangiectasia, Thin vermilion border, Thrombocytopenia, Triangular face, Ventricular septal defect, Wide anterior fontanel, Wide mouth
U2	HIST1H4C	1.463319572	3.96E-08	DNA binding protein	BrainSpLMD|8364	OMIM|602827
U2	RAB8A	0.383010309	4.02E-08	GTPase	BrainSpLMD|4218	OMIM|165040
U2	RCN1	1.865197227	4.05E-08	Calcium binding protein	BrainSpLMD|5954;Eurexp|euxassay_006169|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, peripheral nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|19435	OMIM|602735
U2	ARHGAP10	0.886280875	4.08E-08	GTPase activating protein	BrainSpLMD|79658	OMIM|609746
U2	ERLEC1	1.409781862	4.27E-08	Unclassified	BrainSpLMD|27248;Eurexp|euxassay_004847|mandible, maxilla, orbito-sphenoid, rib	OMIM|611229
U2	CMC2	0.96490447	4.28E-08	Unclassified	BrainSpLMD|56942	
U2	TULP3	0.948956021	4.31E-08	Transcription regulatory protein	BrainSpLMD|7289	OMIM|604730
U2	RNU5A.1	1.81609117	4.38E-08			
U2	C18orf54	1.218464844	4.43E-08	Unclassified		OMIM|613258
U2	COMMD4	1.302298099	4.47E-08	Unclassified	BrainSpLMD|54939	OMIM|616701
U2	GNAI3	0.527059064	4.49E-08	G protein	BrainSpLMD|2773	OMIM|139370;HPO|2773|Anterior open-bite malocclusion, Apnea, Autosomal dominant inheritance, Chewing difficulties, Cleft at the superior portion of the pinna, Cleft palate, Cupped ear, Dental crowding, Dental malocclusion, Hypoplastic superior helix, Low-set ears, Macrocephaly, Mandibular condyle aplasia, Mandibular condyle hypoplasia, Overfolding of the superior helices, Postauricular skin tag, Posteriorly rotated ears, Preauricular skin tag, Round face, Snoring, Speech articulation difficulties
U2	RAB34	1.517905022	4.50E-08	GTPase	BrainSpLMD|83871	OMIM|610917
U2	PABPC1	0.507713649	4.56E-08	RNA binding protein	Eurexp|euxassay_005676|embryo	OMIM|604679;COSMIC||HNSCC, biliary tract carcinoma
U2	C11orf58	0.335970941	4.67E-08	Unclassified	BrainSpLMD|10944	
U2	NEK2	1.702527061	4.70E-08	Serine/threonine kinase	BrainSpLMD|4751	OMIM|604043;HPO|4751|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
U2	C1orf123	0.737272729	4.76E-08	Unclassified		
U2	SNORD3B.1	0.462811477	4.90E-08			
U2	EXTL2	0.915069097	5.08E-08	Enzyme: Glycosyltransferase	BrainSpLMD|2135	OMIM|602411
U2	GNB4	1.143958887	5.09E-08	G protein	BrainSpLMD|59345;Eurexp|euxassay_006820|aortic valve, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, mitral valve, neural retina, pulmonary valve, thoracic, tricuspid valve, trigeminal V, vagus X, valve, ventral grey horn;BrainSpMouseDev|14472	OMIM|610863;HPO|59345|Autosomal dominant inheritance, Axonal regeneration, Distal sensory impairment, Hammertoe, Hyporeflexia, Onion bulb formation, Pes cavus, Slow progression, Steppage gait
U2	FAM98A	0.489221857	5.17E-08	Unclassified	BrainSpLMD|25940	
U2	EXOSC9	0.989677921	5.24E-08	Ribonuclease	BrainSpLMD|5393	OMIM|606180
U2	PRICKLE2	1.691326368	5.27E-08	Unclassified	BrainSpLMD|166336	SFARI||Autism, 3 - Suggestive evidence;OMIM|608501
U2	JUN	0.761849141	5.29E-08	Transcription factor	BrainSpLMD|3725;Eurexp|euxassay_017995|mantle layer, metacarpus, metatarsus, olfactory, phalanx, ventral grey horn, ventricular layer;BrainSpMouseDev|16249	OMIM|165160;COSMIC||sarcoma
U2	MCM8	0.482699678	5.41E-08	DNA binding protein	BrainSpLMD|84515;Eurexp|euxassay_005154|brain, central nervous system, incisor, lung, metanephros, molar, olfactory, retina, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, tongue, vibrissa	OMIM|608187;HPO|84515|Autosomal recessive inheritance, Azoospermia, Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Hypothyroidism, Premature ovarian insufficiency, Primary amenorrhea
U2	ZFX	0.266311024	5.49E-08	Transcription factor	BrainSpLMD|7543	OMIM|314980
U2	CD34	1.488622766	5.55E-08	Adhesion molecule	BrainSpLMD|947;Eurexp|euxassay_000612|adrenal gland, calyces, epidermis, epithelium, foregut-midgut junction, hindgut, lower jaw, lung, mesenchyme, midgut, oral epithelium, pharyngo-tympanic tube, testis, tongue, vertebral axis muscle system	OMIM|142230
U2	TMEM14C	0.917879902	5.58E-08	Integral membrane protein	BrainSpLMD|51522;Eurexp|euxassay_000161|basal plate, biceps, brachialis, cerebral cortex, deltoid, dorsal root ganglion, erector spinae, external oblique, facial VII, floorplate, genioglossus, glossopharyngeal IX, gluteus maximus, hamstring, hyoglossus, ilio-psoas, infraspinatus, inner ear, intrinsic, labyrinth, lateral wall, latissimus dorsi, mantle layer, marginal layer, masseter, midbrain, middle ear, myelohyoid, naso-lacrimal duct, neural retina, otic capsule, palatoglossus, pectoralis major, pectoralis minor, quadratus lumborum, quadriceps, rectus abdominis, retina, roof plate, serratus anterior, skeletal muscle, spinal cord, styloglossus, sublingual gland primordium, submandibular gland primordium, subscapularis, supraspinatus, tegmentum, telencephalon, teres major, thymus primordium, transverse component, transversus abdominis, trapezius, triceps, trigeminal V, vagus X, ventricular layer, vertical component, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|615318
U2	TLCD2	2.200064831	5.62E-08			
U2	TEAD1	0.618434628	5.66E-08	Transcription factor	BrainSpLMD|7003;BrainSpMouseDev|21437	OMIM|189967;HPO|7003|Astigmatism, Autosomal dominant inheritance, Myopia, Peripapillary chorioretinal atrophy, Slow progression
U2	SBDS	0.737266178	5.69E-08	Unclassified	BrainSpLMD|51119	OMIM|607444;COSMIC||AML, MDS;HPO|51119|Abnormality of the metaphysis, Acute myeloid leukemia, Anemia, Autosomal recessive inheritance, Coxa vara, Delayed skeletal maturation, Eczema, Elevated hepatic transaminases, Enlargement of the costochondral junction, Exocrine pancreatic insufficiency, Failure to thrive, Generalized hypotonia, Global developmental delay, Hepatomegaly, Ichthyosis, Intellectual disability, Intellectual disability, mild, Irregular ossification at anterior rib ends, Malabsorption, Metaphyseal chondrodysplasia, Metaphyseal sclerosis, Metaphyseal widening, Myelodysplasia, Myocardial necrosis, Narrow chest, Narrow sacroiliac notch, Neonatal respiratory distress, Nephrocalcinosis, Neutropenia, Osteopenia, Ovoid vertebral bodies, Pancytopenia, Persistence of hemoglobin F, Proximal femoral epiphysiolysis, Recurrent infections, Short stature, Small for gestational age, Specific learning disability, Steatorrhea, Thrombocytopenia
U2	SYNE1	0.606245987	5.79E-08	Unclassified	BrainSpLMD|23345	SFARI||Autism, 4 - Minimal evidence;OMIM|608441;HPO|23345|Adult onset, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Childhood onset, Dysarthria, Dysmetria, Elevated serum creatine phosphokinase, Gait ataxia, Left ventricular septal hypertrophy, Limb ataxia, Muscular dystrophy, Neck muscle weakness, Nystagmus, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Slow progression
U2	MYLK	2.430326224	5.96E-08	Serine/threonine kinase	BrainSpLMD|4638;BrainSpMouseDev|71754	OMIM|600922;HPO|4638|Abnormality of the iris, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Ascending aortic dissection, Autosomal dominant inheritance, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Exertional dyspnea, Hypertension, Left ventricular failure, Paroxysmal dyspnea
U2	SESN3	1.151681511	6.02E-08	Cell cycle control protein	BrainSpLMD|143686	OMIM|607768
U2	FKBP11	0.84039581	6.08E-08	Enzyme: Isomerase	BrainSpLMD|51303;Eurexp|euxassay_008734|basioccipital bone, clavicle, exoccipital bone, incisor, left, mandible, maxilla, orbito-sphenoid, otic capsule, petrous part, rib, right, temporal bone, temporo-mandibular joint primordium, turbinate	OMIM|610571
U2	SHISA2	0.859680566	6.14E-08	Integral membrane protein	BrainSpLMD|387914	OMIM|617324
U2	TACC1	0.377468182	6.41E-08	Cell cycle control protein	BrainSpLMD|6867	OMIM|605301
U2	PSRC1	0.655556011	6.44E-08	Unclassified	BrainSpLMD|84722;Eurexp|euxassay_003651|left lung, marginal layer, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|613126
U2	FAM83D	2.144554521	6.46E-08	Unclassified	BrainSpLMD|81610;Eurexp|euxassay_006378|olfactory, ventricular layer	
U2	S100A13	1.42778793	6.55E-08	Calcium binding protein	BrainSpLMD|6284	OMIM|601989
U2	ILF2	0.506728355	6.56E-08	Transcription factor	BrainSpLMD|3608;Eurexp|euxassay_003141|cervical, cervico-thoracic, chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, submandibular gland primordium, thoracic, trigeminal V, vestibulocochlear VIII, vibrissa	SFARI||Autism, 2 - Strong candidate;OMIM|603181
U2	FNIP1	0.436687253	6.81E-08	Unclassified		OMIM|610594
U2	PALLD	0.864830293	6.85E-08	Unclassified	BrainSpLMD|23022	OMIM|608092
U2	EYA4	2.413454107	6.85E-08	Transcription regulatory protein	BrainSpLMD|2070;BrainSpMouseDev|13828	OMIM|603550;HPO|2070|Abnormal cardiac ventricular function, Autosomal dominant inheritance, Congestive heart failure, Dilated cardiomyopathy, Hearing impairment, Recurrent infections of the middle ear, Sensorineural hearing impairment, Sudden cardiac death
U2	ZAK	0.76657191	6.89E-08			
U2	SELM	1.402977941	7.01E-08			
U2	TMEM109	1.588733504	7.14E-08	Unclassified	BrainSpLMD|79073	
U2	ITGA11	1.60323359	7.24E-08	Adhesion molecule	BrainSpLMD|22801;Eurexp|euxassay_008538|axial skeleton, clavicle, femur, humerus, mandible, maxilla, meninges, mesenchyme, paraxial mesenchyme, pelvic girdle, rib, scapula, thymus primordium	OMIM|604789
U2	C14orf119	0.401838802	7.28E-08	Unclassified		
U2	CHID1	1.161347554	7.31E-08	Transport/cargo protein	BrainSpLMD|66005	OMIM|615692
U2	SNHG16	0.996919777	7.33E-08			
U2	ARCN1	0.976730361	7.34E-08	Transport/cargo protein	BrainSpLMD|372	OMIM|600820;HPO|372|2-3 toe syndactyly, Accelerated skeletal maturation, Astigmatism, Autosomal dominant inheritance, Cleft palate, Coxa valga, Failure to thrive, Gait ataxia, High palate, Hypospadias, Hypotelorism, Intellectual disability, Intrauterine growth retardation, Metaphyseal widening, Microcephaly, Micrognathia, Micropenis, Motor delay, Myopia, Obstructive sleep apnea, Retrognathia, Rhizomelia, Scaphocephaly, Scrotal hypoplasia, Seizures, Ventricular septal defect
U2	HDAC9	0.779901526	7.45E-08	Transcription regulatory protein	BrainSpLMD|9734	OMIM|606543
U2	PKM	0.707272281	7.49E-08	Enzyme: Phosphotransferase	BrainSpLMD|5315	OMIM|179050
U2	LAMP2	1.350378687	7.56E-08	Adhesion molecule	BrainSpLMD|3920	OMIM|309060;HPO|3920|Arrhythmia, Cardiomegaly, Cardiorespiratory arrest, Cognitive impairment, Dilated cardiomyopathy, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Exercise intolerance, Exercise-induced muscle cramps, Gait disturbance, Generalized amyotrophy, Global developmental delay, Hypertrophic cardiomyopathy, Hypokinesia, Intellectual disability, Muscle flaccidity, Myocardial fibrosis, Myocardial necrosis, Pes cavus, Phenotypic variability, Proximal muscle weakness, Visual impairment, Wolff-Parkinson-White syndrome, X-linked dominant inheritance
U2	EIF4H	0.563676508	7.77E-08	Translation regulatory protein	BrainSpLMD|7458	OMIM|603431
U2	SNORD113	1.135375861	7.77E-08			
U2	ANGPTL2	2.138298993	8.00E-08	Secreted polypeptide	BrainSpLMD|23452;Eurexp|euxassay_007716|aorta, axial skeleton, basioccipital bone, clavicle, diaphragm, footplate, handplate, mandible, maxilla, meninges, mesenchyme, orbito-sphenoid, pelvic girdle, pericardium, rib, sternum, valve, vault of skull;BrainSpMouseDev|26108	OMIM|605001
U2	SYNE3	0.606300517	8.28E-08	Cytoskeletal protein	BrainSpLMD|161176	OMIM|610861
U2	TMEM39A	1.084993723	8.31E-08	Unclassified	BrainSpLMD|55254;Eurexp|euxassay_005679|embryo	
U2	TMPO	0.851968295	8.34E-08	Peptide hormone	BrainSpLMD|7112	OMIM|188380;HPO|7112|Autosomal dominant inheritance, Dilated cardiomyopathy, Reduced systolic function
U2	APOE	1.571211732	8.40E-08	Transport/cargo protein	BrainSpLMD|348;Eurexp|euxassay_003949|choroid plexus, left, right;BrainSpMouseDev|11603	OMIM|107741;HPO|348|Abnormality of the eye, Absent axillary hair, Alzheimer disease, Atheromatosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Blepharitis, Cerebral amyloid angiopathy, Cirrhosis, Corneal arcus, Decreased circulating high-density lipoprotein levels, Dementia, Diabetes mellitus, Edema, Glomerulopathy, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Increased circulating low-density lipoprotein levels, Late onset, Long-tract signs, Mediastinal lymphadenopathy, Mesangial hypercellularity, Middle age onset, Neurofibrillary tangles, Obesity, Parkinsonism, Petechiae, Proteinuria, Pulmonary infiltrates, Renal insufficiency, Sea-blue histiocytosis, Sleep-wake cycle disturbance, Splenomegaly, Subcutaneous nodule, Tendon xanthomatosis, Thrombocytopenia, Xanthelasma
U2	NXF1	0.658720121	8.72E-08	RNA binding protein	BrainSpLMD|10482	OMIM|602647
U2	DUSP7	0.599841342	8.79E-08	Dual specificity phosphatase	BrainSpLMD|1849	OMIM|602749
U2	FOS	1.10366465	8.83E-08	Transcription factor	BrainSpLMD|2353;Eurexp|euxassay_012634|mandible, maxilla;BrainSpMouseDev|14058	OMIM|164810;HPO|2353|Abnormality of skin pigmentation, Acanthosis nigricans, Accelerated skeletal maturation, Bone cyst, Broad foot, Diabetes mellitus, Generalized hirsutism, Growth hormone excess, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hyperinsulinemia, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Insulin resistance, Intellectual disability, Large hands, Lipoatrophy, Mandibular prognathia, Precocious puberty, Prominent supraorbital ridges, Skeletal muscle hypertrophy
U2	RPS2P5	0.492797135	8.84E-08			
U2	USP1	0.875496014	8.89E-08	Ubiquitin proteasome system protein	BrainSpLMD|7398	OMIM|603478
U2	HSPB11	0.568326569	9.00E-08	Unclassified	BrainSpLMD|51668	
U2	CEBPD	0.73754596	9.00E-08	Transcription factor	BrainSpLMD|1052;BrainSpMouseDev|12394	OMIM|116898
U2	RP11.864N7.2	0.386245933	9.03E-08			
U2	BCAT1	1.087028633	9.19E-08	Enzyme: Aminotransferase	BrainSpLMD|586;Eurexp|euxassay_010499|brain, clavicle, facial VII, incisor, mandible, nasal septum, neural retina, orbito-sphenoid, rib, spinal cord, tongue, trigeminal V, turbinate bones;BrainSpMouseDev|11821	OMIM|113520
U2	BCLAF1	0.608209183	9.87E-08	Transcription factor	BrainSpLMD|9774	OMIM|612588;COSMIC||melanoma, SCC
U2	CYB5R3	1.349280275	1.00E-07	Enzyme: Reductase	BrainSpLMD|1727	OMIM|613213;HPO|1727|Autosomal recessive inheritance, Cyanosis, Exertional dyspnea, Global developmental delay, Growth delay, Headache, Hypertonia, Intellectual disability, Methemoglobinemia, Microcephaly, Opisthotonus, Polycythemia, Strabismus
U2	PIN1	0.549375027	1.00E-07	Enzyme: Isomerase	BrainSpLMD|5300;Eurexp|euxassay_001562|nucleus pulposus, thymus primordium	OMIM|601052
U2	ZFYVE21	0.344014942	1.03E-07	Transport/cargo protein	BrainSpLMD|79038;Eurexp|euxassay_011588|thymus primordium, thyroid	OMIM|613504
U2	SDHD	1.00636922	1.04E-07	Enzyme: Dehydrogenase	BrainSpLMD|6392	OMIM|602690;COSMIC||paraganglioma, pheochromocytoma;HPO|6392|Abdominal pain, Abnormal mitochondria in muscle tissue, Abnormality of mitochondrial metabolism, Abnormality of the penis, Adenoma sebaceum, Adult onset, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Breast carcinoma, Cafe-au-lait spot, Cavernous hemangioma, Cerebral hemorrhage, Chemodectoma, Cognitive impairment, Colorectal polyposis, Conductive hearing impairment, Congenital cataract, Congestive heart failure, Conjunctival hamartoma, Cranial nerve paralysis, Decreased activity of mitochondrial complex II, Developmental regression, Dilated cardiomyopathy, Dysphagia, Dystonia, Elevated circulating catecholamine level, Elevated urinary norepinephrine, Episodic hypertension, Episodic paroxysmal anxiety, Exercise intolerance, Flexion contracture, Furrowed tongue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Generalized hyperkeratosis, Global developmental delay, Glomus jugular tumor, Glomus tympanicum paraganglioma, Goiter, Hamartomatous polyposis, Hearing impairment, Hemangioma, Hoarse voice, Hypercalcemia, Hyperhidrosis, Hyperreflexia, Hypertension associated with pheochromocytoma, Hypertensive retinopathy, Hypertrophic cardiomyopathy, Increased intramyocellular lipid droplets, Increased serum lactate, Infantile onset, Intellectual disability, Intestinal carcinoid, Intestinal obstruction, Left ventricular noncompaction, Leukoencephalopathy, Lipoma, Loss of voice, Macrocephaly, Macroglossia, Macule, Melanocytic nevus, Meningioma, Mucosal telangiectasiae, Muscle weakness, Myoclonus, Neonatal hypotonia, Neoplasm, Neoplasm of the gastrointestinal tract, Neoplasm of the thyroid gland, Nystagmus, Ophthalmoplegia, Optic atrophy, Palmoplantar keratoderma, Palpitations, Papilloma, Papule, Paraganglioma, Phenotypic variability, Pheochromocytoma, Pigmentary retinopathy, Positive regitine blocking test, Progressive leukoencephalopathy, Proteinuria, Ptosis, Pulsatile tinnitus, Ragged-red muscle fibers, Recurrent paroxysmal headache, Renal artery stenosis, Renal cell carcinoma, Seizures, Short stature, Spasticity, Stress/infection-induced lactic acidosis, Subcutaneous nodule, Tachycardia, Tinnitus, Uterine leiomyoma, Vagal paraganglioma, Visual impairment, Vocal cord paralysis, Weight loss
U2	RHNO1	0.958572129	1.04E-07	Unclassified	BrainSpLMD|83695;Eurexp|euxassay_001503|cortex, neural retina, ventricular layer	OMIM|614085
U2	CCL2	1.870183616	1.06E-07	Chemokine	BrainSpLMD|6347	OMIM|158105
U2	DNM3OS	1.704794889	1.07E-07			
U2	LSM4	0.883508943	1.08E-07	RNA binding protein	BrainSpLMD|25804	OMIM|607284
U2	CENPL	1.230659932	1.11E-07	Unclassified	BrainSpLMD|91687	OMIM|611503
U2	RAD51	0.974973921	1.13E-07	DNA binding protein	BrainSpLMD|5888;Eurexp|euxassay_001498|cervical, cervico-thoracic, mantle layer, marginal layer, thoracic, thymus primordium, ventricular layer	OMIM|179617;HPO|5888|Abnormality of chromosome stability, Abnormality of the fallopian tube, Almond-shaped palpebral fissure, Anal atresia, Aplasia/Hypoplasia of the radius, Autosomal dominant inheritance, Bimanual synkinesia, Breast carcinoma, Global developmental delay, Growth delay, Hydrocephalus, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Ovarian neoplasm, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia
U2	FOXD2	1.127813771	1.16E-07	Transcription factor	BrainSpLMD|2306;Eurexp|euxassay_019656|ductus deferens, mantle layer, mesenchyme, metanephros, naris, penis, physiological umbilical hernia, vibrissa;BrainSpMouseDev|17070	OMIM|602211
U2	SMTN	1.199039201	1.20E-07	Cytoskeletal associated protein	BrainSpLMD|6525;Eurexp|euxassay_002787|alimentary system, hindgut, limb, midgut, oesophagus, rectum, stomach, vertebral axis muscle system, wall	OMIM|602127
U2	TRMT112	0.698362591	1.20E-07	Unclassified	BrainSpLMD|51504;Eurexp|euxassay_005921|embryo	
U2	ARF4	0.819822423	1.24E-07	Transport/cargo protein	BrainSpLMD|378;Eurexp|euxassay_000003|arm, associated mesenchyme, axial skeleton, basal columns, clavicle, dermal component, diaphragm, dorsal root ganglion, duodenum, epidermal component, epithelium, facial VII, femur, floor plate, floorplate, foregut, forelimb, frontal bone primordium, glandular mucous membrane, hindlimb, hypoglossal XII, intervertebral disc, leg, limb, lower jaw, mandible, medullary raphe, mesenchyme, nasal capsule, nasal cavity, nasal septum, neural retina, nose, oculomotor III, olfactory, oral epithelium, oral region, pectoral girdle and thoracic body wall, petrous part, pons, skeleton, spinal cord, stomach, stroma, submandibular gland primordium, tibia, trigeminal V, turbinate bones, vagus X, vertebral cartilage condensation, vibrissa	OMIM|601177
U2	DTL	1.686982296	1.27E-07	Unclassified	BrainSpLMD|51514;Eurexp|euxassay_012578|choroid plexus, ventricular layer	OMIM|610617
U2	PIGK	1.553161368	1.27E-07	Cysteine protease	BrainSpLMD|10026	OMIM|605087
U2	FGF2	1.099228229	1.30E-07	Growth factor	BrainSpLMD|2247;BrainSpMouseDev|13950	OMIM|134920
U2	ZWILCH	1.160483459	1.31E-07	Unclassified	BrainSpLMD|55055	SFARI||Autism, 4 - Minimal evidence;OMIM|609984
U2	P4HA1	1.215262942	1.33E-07	Enzyme: Hydroxylase	BrainSpLMD|5033;Eurexp|euxassay_000584|Meckel's cartilage, axial skeleton, chondrocranium, incisor, limb, molar, nasal capsule, pectoral girdle and thoracic body wall	OMIM|176710
U2	DTYMK	0.789812927	1.33E-07	Enzyme: Phosphotransferase	Eurexp|euxassay_003137|chondrocranium, incisor, molar, pancreas, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|188345
U2	CNPY4	0.790814194	1.37E-07	Unclassified	BrainSpLMD|245812	OMIM|610047
U2	SULF2	1.792470129	1.39E-07	Enzyme: Sulphatase	BrainSpLMD|55959	OMIM|610013
U2	FOXP1	0.66680683	1.41E-07	Transcription factor	BrainSpLMD|27086;Eurexp|euxassay_012052|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, handplate, humerus, mantle layer, mesenchyme, metatarsus, nasal septum, orbito-sphenoid, pelvic girdle, rib, scapula, temporal bone, tibia, turbinate;BrainSpMouseDev|72814	SFARI||Autism, 2 - Strong candidate;OMIM|605515;COSMIC||ALL;HPO|27086|Aggressive behavior, Anemia, Autosomal dominant inheritance, B-cell lymphoma, Broad nasal tip, Constipation, Delayed gross motor development, Delayed speech and language development, Downslanted palpebral fissures, Fatigue, Fever, Generalized hypotonia, Hyperactivity, Hyperhidrosis, Hypertelorism, Intellectual disability, Macrocephaly, Nausea and vomiting, Nystagmus, Open mouth, Prominent forehead, Pulmonary infiltrates, Retrognathia, Short nose, Stereotypy, Strabismus, Weight loss
U2	CDC25A	0.46112504	1.43E-07	Dual specificity phosphatase	BrainSpLMD|993	OMIM|116947
U2	NDUFB6	0.49205419	1.45E-07	Regulatory/other subunit	BrainSpLMD|4712	OMIM|603322
U2	NKD1	2.086593282	1.47E-07	Unclassified	BrainSpLMD|85407;BrainSpMouseDev|60608	OMIM|607851
U2	TENM2	0.574088758	1.50E-07	Translation regulatory protein		OMIM|610119
U2	TGOLN2	1.056241449	1.51E-07	Membrane transport protein	BrainSpLMD|10618	OMIM|603062
U2	POLR2L	0.72817955	1.51E-07	RNA polymerase	BrainSpLMD|5441;Eurexp|euxassay_019574|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, liver, lung, midgut, nucleus pulposus, oesophagus, pancreas, stomach, submandibular gland primordium, testis, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|601189
U2	TPM3	0.90481167	1.52E-07	Cytoskeletal associated protein;Structural protein	BrainSpLMD|7170	OMIM|191030;COSMIC||papillary thyroid, ALCL, NSCLC, Spitzoid tumour;HPO|7170|Autosomal dominant inheritance, Autosomal recessive inheritance, Bulbar palsy, Centrally nucleated skeletal muscle fibers, Congenital onset, Decreased fetal movement, Dilated cardiomyopathy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Dysphagia, EMG: myopathic abnormalities, Facial diplegia, Facial palsy, Failure to thrive, Feeding difficulties, Flexion contracture, Generalized muscle weakness, Heterogeneous, High palate, Juvenile onset, Long face, Lumbar hyperlordosis, Motor delay, Muscular hypotonia, Myopathy, Narrow face, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Pectus excavatum, Pes cavus, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Reduced tendon reflexes, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Scoliosis, Shoulder girdle muscle atrophy, Type 1 fibers relatively smaller than type 2 fibers, Variable expressivity, Weak cry
U2	FOXM1	1.890634135	1.53E-07	Transcription factor	BrainSpLMD|2305;BrainSpMouseDev|14012	OMIM|602341
U2	SNRPG	0.838916745	1.57E-07	Ribonucleoprotein	Eurexp|euxassay_001471|cervical, cervico-thoracic, cortex, thoracic, thymus primordium, ventricular layer	OMIM|603542
U2	TWSG1	1.282497661	1.59E-07	Secreted polypeptide	BrainSpLMD|57045	OMIM|605049
U2	LAMC1	1.435047536	1.60E-07	Extracellular matrix protein	BrainSpLMD|3915	OMIM|150290
U2	ITGA10	3.270120635	1.60E-07	Cell surface receptor	BrainSpLMD|8515;Eurexp|euxassay_011003|Meckel's cartilage, basioccipital bone, basisphenoid bone, cervical region, femur, fibula, hip, humerus, lumbar region, mandible, maxilla, nasal septum, orbito-sphenoid, otic capsule, petrous part, pituitary, rib, sacral region, scapula, tarsus, thoracic region, tibia, turbinate	OMIM|604042
U2	COPS6	0.714778667	1.63E-07	Cell cycle control protein	BrainSpLMD|10980	OMIM|614729
U2	UACA	1.207451964	1.69E-07	Unclassified	BrainSpLMD|55075	OMIM|612516
U2	RAB33B	0.816119427	1.72E-07	GTPase	BrainSpLMD|83452	OMIM|605950;HPO|83452|Autosomal recessive inheritance, Barrel-shaped chest, Broad femoral neck, Broad phalanx, Decreased body weight, Disproportionate short-trunk short stature, Flattened femoral head, Genu valgum, Hypoplasia of the odontoid process, Pectus carinatum, Pes planus, Platyspondyly, Short metacarpal, Short metatarsal, Short neck, Short phalanx of finger
U2	RP11.572P18.1	0.541863759	1.77E-07			
U2	CHEK2	1.879003568	1.77E-07	Serine/threonine kinase	BrainSpLMD|11200;Eurexp|euxassay_012795|liver, ventricular layer	OMIM|604373;COSMIC||breast;HPO|11200|Abnormal lactate dehydrogenase activity, Abnormality of metabolism/homeostasis, Abnormality of the fallopian tube, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphysis, Autosomal dominant inheritance, Breast carcinoma, Elevated alkaline phosphatase, Glioma, Joint swelling, Lymphoma, Meningioma, Neoplasm of the adrenal cortex, Neoplasm of the colon, Neoplasm of the nervous system, Neoplasm of the pancreas, Neoplasm of the skin, Osteolysis, Osteosarcoma, Ovarian neoplasm, Pain, Primary peritoneal carcinoma, Progressive encephalopathy, Retinoblastoma, Sarcoma, Stomach cancer
U2	RP11.613M5.2	0.690291507	1.83E-07			
U2	DNAJB11	0.611707824	1.85E-07	Chaperone	BrainSpLMD|51726	OMIM|611341
U2	C1DP1	0.561070343	1.93E-07			
U2	POLD2	1.325763973	1.94E-07	DNA polymerase	BrainSpLMD|5425	OMIM|600815
U2	SIKE1	0.639220103	1.96E-07	Unclassified	BrainSpLMD|80143;Eurexp|euxassay_012757|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, ventricle, vestibulocochlear VIII	OMIM|611656
U2	ACTN4	1.524762569	1.96E-07	Cytoskeletal protein	BrainSpLMD|81	SFARI||Autism, No category;OMIM|604638;HPO|81|Anemia, Autosomal dominant inheritance, Edema, Focal segmental glomerulosclerosis, Hyperlipidemia, Hypertension, Hypoalbuminemia, Incomplete penetrance, Proteinuria, Slow progression, Variable expressivity
U2	ELL2	0.970027561	1.99E-07	Transcription factor	BrainSpLMD|22936	OMIM|601874
U2	PLK1	1.557350578	1.99E-07	Serine/threonine kinase	BrainSpLMD|5347	OMIM|602098
U2	PARK7	0.357913789	2.00E-07	RNA binding protein	BrainSpLMD|11315	OMIM|602533;HPO|11315|Adult onset, Anxiety, Autosomal recessive inheritance, Blepharospasm, Bradykinesia, Postural tremor, Psychotic episodes, Resting tremor, Rigidity, Slow progression
U2	NUPR1	1.909901711	2.03E-07	DNA binding protein	BrainSpLMD|26471;Eurexp|euxassay_002170|Meckel's cartilage, incisor, molar, orbito-sphenoid, pancreas	OMIM|614812
U2	TMED10	0.774501641	2.03E-07	Integral membrane protein	BrainSpLMD|10972	OMIM|605406
U2	CTDSP1	1.023329122	2.08E-07	Enzyme: Phosphatase	BrainSpLMD|58190	OMIM|605323
U2	RP11.95I19.3	0.348984469	2.09E-07			
U2	AC016708.2	0.501491102	2.11E-07			
U2	ITPRIPL1	1.296307413	2.16E-07	Unclassified	BrainSpLMD|150771	
U2	SERPING1	1.096074106	2.16E-07	Protease inhibitor	BrainSpLMD|710	OMIM|606860;HPO|710|Abdominal pain, Abnormality of salivation, Abnormality of the larynx, Angioedema, Autoimmunity, Autosomal dominant inheritance, Dermatographic urticaria, Diarrhea, Dysphagia, Edema of the dorsum of hands, Erythema, Facial edema, Intestinal edema, Laryngeal edema, Limbal edema, Nausea, Paresthesia, Peripheral axonal neuropathy, Pharyngeal edema, Systemic lupus erythematosus, Tongue edema, Vomiting
U2	PHACTR2	1.231394299	2.18E-07	Enzyme regulator	BrainSpLMD|9749;Eurexp|euxassay_007706|alimentary system, cardiovascular system, cavities and their linings, choroid invagination, choroid plexus, gland, integumental system, limb, mesenchyme, renal/urinary system, reproductive system, respiratory system, roof plate, sensory organ, tail, ventricular layer, vertebral axis muscle system	OMIM|608724
U2	TP53TG1	1.416435371	2.20E-07	Unclassified	BrainSpLMD|11257	OMIM|616403
U2	GAPDH	0.519149656	2.21E-07	Enzyme: Dehydrogenase		OMIM|138400
U2	CDC23	0.440879181	2.21E-07	Ubiquitin proteasome system protein;Cell cycle control protein	BrainSpLMD|8697;Eurexp|euxassay_007491|embryo	OMIM|603462
U2	ATP5G3	0.716927688	2.30E-07			
U2	FUNDC2	0.273461038	2.30E-07	Unclassified	BrainSpLMD|65991	
U2	RPS2	0.379839591	2.38E-07	Ribosomal subunit	BrainSpLMD|6187;Eurexp|euxassay_005928|embryo	OMIM|603624
U2	RASSF1	2.049227995	2.38E-07	Cytoskeletal associated protein	BrainSpLMD|11186	OMIM|605082;HPO|11186|Alveolar cell carcinoma, Autosomal recessive inheritance
U2	CRK	0.796774719	2.40E-07	Adapter molecule	BrainSpLMD|1398	OMIM|164762
U2	SENP2	0.688867254	2.43E-07	Ubiquitin proteasome system protein	BrainSpLMD|59343	OMIM|608261
U2	SIPA1L1	0.572294396	2.52E-07	GTPase activating protein	BrainSpLMD|26037	OMIM|617504
U2	SLC25A5	1.063283055	2.54E-07	Integral membrane protein		OMIM|300150
U2	EIF3J	0.426370522	2.55E-07	Translation regulatory protein	BrainSpLMD|8669	OMIM|603910
U2	GXYLT1	0.742341851	2.55E-07	Unclassified	BrainSpLMD|283464	OMIM|613321
U2	NEDD1	1.6203151	2.57E-07	Unclassified	BrainSpLMD|121441;Eurexp|euxassay_017529|ventricular layer	OMIM|600372
U2	TBC1D2B	1.28308203	2.57E-07	Transcription regulatory protein	BrainSpLMD|23102	
U2	CENPH	1.792155993	2.61E-07	DNA binding protein	BrainSpLMD|64946;Eurexp|euxassay_003389|submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|605607
U2	NAV2	0.954647421	2.61E-07	DNA binding protein	BrainSpLMD|89797;Eurexp|euxassay_008549|incisor, mantle layer, marginal layer, molar, neural retina, skeletal muscle, submandibular gland primordium, thymus primordium, ventral grey horn, vertebral axis muscle system, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|607026
U2	CBFB	1.139781267	2.62E-07	Transcription factor	BrainSpLMD|865	OMIM|121360;COSMIC||AML
U2	CCNE1	1.039059526	2.64E-07	Cell cycle control protein	BrainSpLMD|898	OMIM|123837;COSMIC||serous ovarian
U2	NRM	1.26235296	2.64E-07	Unclassified	BrainSpLMD|11270;Eurexp|euxassay_002983|chondrocranium, nasal capsule, orbito-sphenoid, turbinate, ventricular layer	
U2	PLEKHA4	1.228117351	2.65E-07	Adapter molecule	BrainSpLMD|57664;Eurexp|euxassay_008858|brachial plexus, choroid invagination, choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, laryngeal, lumbo-sacral plexus, naris, oesophagus, peripheral nervous system, roof plate, thyroid, tongue, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII	OMIM|607769
U2	ERLIN1	1.601270593	2.67E-07	Unclassified	BrainSpLMD|10613	OMIM|611604;HPO|10613|Autosomal recessive inheritance, Clonus, Difficulty walking, Lower limb spasticity, Progressive, Spastic gait, Tip-toe gait
U2	BRCA1	0.650608157	2.74E-07	Transcription regulatory protein	BrainSpLMD|672;Eurexp|euxassay_019531|incisor, liver, lung, marginal layer, metanephros, molar, olfactory, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|11975	OMIM|113705;COSMIC||ovarian, breast, ovarian;HPO|672|Abdominal distention, Abdominal pain, Abnormality of the fallopian tube, Autosomal dominant inheritance, Breast carcinoma, Constipation, Heterogeneous, Nausea and vomiting, Neoplasm, Ovarian neoplasm, Peritonitis, Primary peritoneal carcinoma
U2	DSTN	0.8146849	2.75E-07	Cytoskeletal associated protein	BrainSpLMD|11034;Eurexp|euxassay_001919|atrium, bladder, brain, cervico-thoracic, dorsal root ganglion, epidermis, epithelium, glossopharyngeal IX, hindgut, midgut, neural retina, oesophagus, olfactory, oral epithelium, pharyngo-tympanic tube, respiratory, spinal cord, stomach, stroma, submandibular gland primordium, thoracic, thymus primordium, thyroid, trachea, trigeminal V, vagus X, ventricle, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, wall	OMIM|609114
U2	EIF4G1	0.585392194	2.79E-07	Translation regulatory protein	BrainSpLMD|1981	OMIM|600495
U2	ARF6	0.947778612	2.85E-07	Transport/cargo protein	BrainSpLMD|382;BrainSpMouseDev|11632	OMIM|600464
U2	PHPT1	0.308222322	2.98E-07	Enzyme: Phosphatase	BrainSpLMD|29085	OMIM|610167
U2	POLD3	0.813801252	3.00E-07	DNA polymerase	BrainSpLMD|10714;Eurexp|euxassay_007336|embryo	OMIM|611415
U2	CBX6	0.556027207	3.03E-07	DNA binding protein	BrainSpLMD|23466	OMIM|617438
U2	STAT3	0.648560494	3.12E-07	Transcription factor	BrainSpLMD|6774;Eurexp|euxassay_004868|axial skeleton, choroid invagination, dorsal grey horn, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mantle layer, mesenchyme, metatarsus, phalanx, thymus primordium, trigeminal V, ventral grey horn, ventricular layer;BrainSpMouseDev|20610	OMIM|102582;COSMIC||T-cell large granular lymphocytic leukaemia, paediatric large granular lymphocytic leukaemia, IPEX-like syndrome;HPO|6774|Abnormal heart morphology, Abnormality of the hair, Arthrogryposis multiplex congenita, Atelectasis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Autosomal dominant inheritance, Bilateral ptosis, Celiac disease, Chronic otitis media, Cleft palate, Coarse facial features, Contractures of the joints of the lower limbs, Cough, Decreased antibody level in blood, Deeply set eye, Dehydration, Delayed eruption of teeth, Downturned corners of mouth, Dystrophic fingernails, Eczema, Eczematoid dermatitis, Eosinophilia, Failure to thrive, Frontal bossing, Generalized abnormality of skin, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Gingivitis, Global developmental delay, Glycosuria, High palate, Hyperglycemia, Hypertelorism, Hypovolemia, Increased IgE level, Infantile onset, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Ketonuria, Microalbuminuria, Motor delay, Neonatal insulin-dependent diabetes mellitus, Osteopenia, Papule, Paronychia, Persistence of primary teeth, Prominent forehead, Prominent metopic ridge, Pruritus, Recurrent Staphylococcus aureus infections, Recurrent fractures, Recurrent fungal infections, Recurrent respiratory infections, Recurrent sinopulmonary infections, Reduced pancreatic beta cells, Retinopathy, Scoliosis, Short stature, Skin rash, Skin ulcer, Weight loss, Wide nasal bridge, Wide nose
U2	FZD1	1.11796504	3.19E-07	G protein coupled receptor	BrainSpLMD|8321;Eurexp|euxassay_014936|diaphragm, forelimb, hindbrain, hindlimb, lung, medulla oblongata, mesenchyme, metanephros, midgut, spinal cord, stomach, thymus primordium, tongue, vertebral axis muscle system;BrainSpMouseDev|14138	OMIM|603408
U2	DHRS3	1.077590445	3.23E-07	Enzyme: Dehydrogenase	BrainSpLMD|9249;Eurexp|euxassay_011877|epithelium, fundus region, sublingual gland primordium, urethra, ventricular layer	OMIM|612830
U2	STARD13	1.480397822	3.41E-07	GTPase activating protein	BrainSpLMD|90627	OMIM|609866
U2	ITGA5	1.004662575	3.41E-07	Cell surface receptor	BrainSpLMD|3678;Eurexp|euxassay_010968|axial skeleton, bladder, midgut, oesophagus, rectum, skeletal muscle, stomach	OMIM|135620
U2	PENK	2.520282746	3.44E-07	Peptide hormone	BrainSpLMD|5179;BrainSpMouseDev|18385	OMIM|131330
U2	ANGPTL4	0.766542362	3.51E-07	Secreted polypeptide	BrainSpLMD|51129;Eurexp|euxassay_002853|axial muscle, cochlear duct, dermis, meninges, rib;BrainSpMouseDev|37146	OMIM|605910;HPO|51129|Autosomal dominant inheritance
U2	ASF1B	0.903832005	3.57E-07	Chaperone	BrainSpLMD|55723;Eurexp|euxassay_001590|basisphenoid bone, exoccipital bone, lobe, marginal layer, neural retina, orbito-sphenoid, otic capsule, submandibular gland primordium, temporal bone, thymus primordium, ventricular layer, vibrissa	OMIM|609190
U2	NAA38	0.495266871	3.58E-07	Unclassified	BrainSpLMD|84316	
U2	RPS3A	0.481025603	3.61E-07	Ribosomal subunit		OMIM|180478
U2	CDCA3	1.4136174	3.65E-07	Unclassified	BrainSpLMD|83461;Eurexp|euxassay_004852|cortex, left, marginal layer, mesenchyme, olfactory, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventral grey horn, ventricular layer	OMIM|607749
U2	CYB5R2	1.441107695	3.70E-07	Enzyme: Reductase	BrainSpLMD|51700	OMIM|608342
U2	MORC4	1.180502707	3.71E-07	Unclassified	BrainSpLMD|79710	OMIM|300970
U2	MGME1	0.978367954	3.86E-07	Unclassified	BrainSpLMD|92667	OMIM|615076;HPO|92667|Autosomal recessive inheritance, Dysphonia, Dyspnea, Easy fatigability, Elevated serum creatine phosphokinase, Exercise intolerance, Facial palsy, Generalized amyotrophy, Hypergonadotropic hypogonadism, Hyporeflexia, Kyphosis, Nasal speech, Progressive, Progressive external ophthalmoplegia, Proximal amyotrophy, Ptosis, Recurrent infections, Respiratory insufficiency, Spinal deformities, Spinal rigidity
U2	SLC39A7	0.580686731	3.88E-07	Membrane transport protein	BrainSpLMD|7922	OMIM|601416
U2	COX8A	0.514836009	4.09E-07	Enzyme: Oxidoreductase	BrainSpLMD|1351	OMIM|123870
U2	PSMA7	0.264111001	4.18E-07	Ubiquitin proteasome system protein	BrainSpLMD|5688	OMIM|606607
U2	RAB13	1.217636474	4.20E-07	GTPase	Eurexp|euxassay_003494|meninges, metencephalon, olfactory lobe	OMIM|602672
U2	RP11.603J24.7	0.382897534	4.21E-07			
U2	KIFC1	1.296139194	4.28E-07	Motor protein	Eurexp|euxassay_010691|marginal layer, ventricular layer	OMIM|603763
U2	RP11.303E16.2	1.166638243	4.33E-07			
U2	TMEM237	1.094448459	4.44E-07	Unclassified	BrainSpLMD|65062	OMIM|614423;HPO|65062|Apnea, Ataxia, Autistic behavior, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Coloboma, Dandy-Walker malformation, Deeply set eye, Downslanted palpebral fissures, Encephalocele, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, High forehead, Highly arched eyebrow, Hydrocephalus, Hypertelorism, Hypertension, Intellectual disability, Intellectual disability, severe, Iris coloboma, Irritability, Long face, Low-set ears, Low-set, posteriorly rotated ears, Malar flattening, Microphthalmia, Molar tooth sign on MRI, Morning glory anomaly, Muscular hypotonia, Nephropathy, Nystagmus, Oculomotor apraxia, Open mouth, Postaxial polydactyly, Posteriorly rotated ears, Prominent nasal bridge, Ptosis, Renal cyst, Retinal dystrophy, Short philtrum, Strabismus, Tachypnea, Tented upper lip vermilion
U2	CRY1	1.376475507	4.57E-07	Translation regulatory protein	BrainSpLMD|1407	OMIM|601933
U2	ATP2B4	0.974520254	4.64E-07	ATPase	BrainSpLMD|493;Eurexp|euxassay_013200|lobe, ventral grey horn	OMIM|108732
U2	VCL	1.283018686	4.68E-07	Cytoskeletal associated protein	BrainSpLMD|7414	OMIM|193065;HPO|7414|Autosomal dominant inheritance, Congestive heart failure, Dilated cardiomyopathy, Dyspnea, Endocardial fibrosis, Hypertrophic cardiomyopathy
U2	RHOG	1.285562732	4.77E-07	GTPase	BrainSpLMD|391	OMIM|179505
U2	MCM4	0.912381339	4.79E-07	DNA binding protein	BrainSpLMD|4173	SFARI||Autism, 4 - Minimal evidence;OMIM|602638;HPO|4173|Adrenal insufficiency, Autosomal recessive inheritance, Global developmental delay, Hepatomegaly, Intrauterine growth retardation, Lymphadenopathy, Lymphoproliferative disorder, Microcephaly, Postnatal growth retardation, Recurrent respiratory infections, Recurrent viral infections, Splenomegaly
U2	HN1L	0.889899875	4.83E-07			
U2	BOLA3	0.548993173	4.83E-07	Unclassified		OMIM|613183;HPO|388962|Abnormality of extrapyramidal motor function, Autosomal recessive inheritance, Death in infancy, Decreased activity of mitochondrial respiratory chain, Dilated cardiomyopathy, Epileptic encephalopathy, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hypertrophic cardiomyopathy, Infantile onset, Lactic acidosis, Lethargy, Leukodystrophy, Poor head control, Respiratory failure, Seizures, Spasticity, Vomiting
U2	PRELID2	0.849566812	4.83E-07	Unclassified	BrainSpLMD|153768	
U2	RP11.168J18.6	0.306014459	4.92E-07			
U2	CLIC4	0.686665138	4.96E-07	Intracellular ligand gated channel	BrainSpLMD|25932	OMIM|606536
U2	RUNX1	2.778816424	4.99E-07	Transcription factor	BrainSpLMD|861;Eurexp|euxassay_019458|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, cricoid, dorsal root ganglion, epithelium, facial VII, femur, fibula, glossopharyngeal IX, incisor, larynx, mandible, mantle layer, maxilla, metatarsus, molar, olfactory, orbito-sphenoid, pelvic girdle, phalanx, pharyngo-tympanic tube, rib, sternum, stomach, thymus primordium, thyroid, tibia, trachea, trigeminal V, turbinate, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|12179	OMIM|151385;COSMIC||AML, pre B-ALL, T-ALL;HPO|861|Abnormality of basophils, Acute monocytic leukemia, Acute myeloid leukemia, Autosomal dominant inheritance, Bruising susceptibility, Epistaxis, Fatigue, Fever, Impaired platelet aggregation, Leukocytosis, Lymphoma, Myelodysplasia, Myeloproliferative disorder, Neuroblastoma, Poor appetite, Prolonged bleeding time, Splenomegaly, Thrombocytopenia, Thrombocytosis
U2	IMPDH2	0.420495689	5.00E-07	Enzyme: Dehydrogenase	BrainSpLMD|3615	OMIM|146691
U2	TTL	0.921595505	5.01E-07	Enzyme: Ligase	BrainSpLMD|150465;Eurexp|euxassay_003613|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, ventral grey horn	OMIM|608291
U2	NPM1P27	0.251899878	5.04E-07			
U2	MCL1	0.557080295	5.11E-07	Chaperone	BrainSpLMD|4170	OMIM|159552
U2	NDC1	0.724922363	5.19E-07	Anchor protein	BrainSpLMD|55706	OMIM|610115
U2	TSPO	1.045545183	5.20E-07	Integral membrane protein	BrainSpLMD|706;Eurexp|euxassay_005714|liver	OMIM|109610
U2	MASTL	2.031504721	5.33E-07	Unclassified	BrainSpLMD|84930;Eurexp|euxassay_000091|liver, otic capsule, thymus primordium, tooth	OMIM|608221;HPO|84930|Autosomal dominant inheritance, Bruising susceptibility, Thrombocytopenia
U2	G2E3	1.157948478	5.75E-07	Enzyme: Ligase	BrainSpLMD|55632	OMIM|611299
U2	QPRT	0.694988263	5.83E-07	Enzyme: Ribosyltransferase	BrainSpLMD|23475;Eurexp|euxassay_004564|calyces, mandible, maxilla	OMIM|606248
U2	ITGA9	0.705397082	5.98E-07	Cell junction protein	BrainSpLMD|3680;Eurexp|euxassay_011292|excretory component, lung, mantle layer, stomach, submandibular gland primordium, testis, vibrissa	OMIM|603963
U2	EXOSC8	0.419371476	6.08E-07	Ribonuclease	BrainSpLMD|11340	OMIM|606019;HPO|11340|Autosomal recessive inheritance, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Failure to thrive, Feeding difficulties, Global developmental delay, Hearing impairment, Hypoplasia of the corpus callosum, Muscle weakness, Respiratory failure, Spastic tetraparesis, Spinal muscular atrophy, Visual impairment
U2	EID1	0.27260774	6.13E-07	Cell cycle control protein	BrainSpLMD|23741	OMIM|605894
U2	SH3PXD2A	0.55927801	6.17E-07	Adapter molecule	BrainSpLMD|9644;Eurexp|euxassay_012261|clavicle, meninges, mesenchyme, skeletal muscle, ventricular layer	
U2	NBPF10	1.643768667	6.17E-07			OMIM|614000
U2	ENOSF1	1.376788796	6.21E-07	Enzyme: Ligase	BrainSpLMD|55556	OMIM|607427
U2	C5orf34	2.599253173	6.33E-07	Unclassified	BrainSpLMD|375444	
U2	LRRC41	0.662087342	6.71E-07	Adapter molecule	BrainSpLMD|10489	
U2	CHCHD5	0.467509509	6.96E-07	Unclassified	BrainSpLMD|84269;Eurexp|euxassay_002823|orbito-sphenoid, turbinate	OMIM|616978
U2	ANAPC13	0.577226337	7.02E-07	Unclassified	BrainSpLMD|25847	OMIM|614484
U2	AP3B1	1.367723406	7.03E-07	Adapter molecule	BrainSpLMD|8546	OMIM|603401;HPO|8546|Aberrant melanosome maturation, Acetabular dysplasia, Albinism, Autosomal recessive inheritance, Carious teeth, Coarse facial features, Congenital onset, Fair hair, Hepatomegaly, Hip dysplasia, Intellectual disability, mild, Long philtrum, Low-set ears, Microcephaly, Motor delay, Neutropenia, Nystagmus, Ocular albinism, Periodontitis, Photophobia, Posteriorly rotated ears, Pulmonary fibrosis, Recurrent bacterial infections, Reduced visual acuity, Smooth philtrum, Splenomegaly, Strabismus, Thin upper lip vermilion, Thrombocytopenia, Upslanted palpebral fissure, Visual impairment, Wide nasal bridge
U2	CTC.340A15.2	1.824307574	7.16E-07			
U2	CSE1L	0.776401403	7.25E-07	Transport/cargo protein	BrainSpLMD|1434;Eurexp|euxassay_000112|cortex, gland, glossopharyngeal IX, incisor, liver, lung, metanephros, physiological umbilical hernia, submandibular gland primordium, thymus primordium, trigeminal V, turbinate bones, vagus X, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|601342
U2	IL17D	1.845695442	7.29E-07	Cytokine	BrainSpLMD|53342;Eurexp|euxassay_001743|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, nucleus pulposus, spinal cord, thoracic, thymus primordium, trigeminal V	OMIM|607587
U2	CTB.119C2.1	1.185536217	7.32E-07			
U2	15-Sep	0.584468724	7.51E-07			
U2	CNN3	0.431100691	7.51E-07	Cytoskeletal associated protein	BrainSpLMD|1266;Eurexp|euxassay_009765|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|602374
U2	GSTM3	0.607979282	7.66E-07	Enzyme: Glutathione transferase	BrainSpLMD|2947;Eurexp|euxassay_018935|atrio-ventricular canal, axial muscle, basioccipital bone, basisphenoid bone, brain, central nervous system, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, labyrinth, lens, liver, mantle layer, nasal septum, neural retina, nucleus pulposus, olfactory, orbito-sphenoid, otic capsule, renal/urinary system, sphenoid, spinal cord, testis, trigeminal V, turbinate bones, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|138390
U2	NECAB1	1.294813878	7.84E-07	Calcium binding protein	BrainSpLMD|64168;Eurexp|euxassay_005971|embryo	
U2	LHFPL2	1.903630757	8.00E-07	Unclassified	BrainSpLMD|10184	OMIM|609718
U2	WIPF1	1.968165572	8.23E-07	Cytoskeletal associated protein	BrainSpLMD|7456	OMIM|602357;HPO|7456|Abnormal platelet morphology, Abnormality of eosinophils, Autoimmunity, Autosomal recessive inheritance, Bruising susceptibility, Chronic diarrhea, Chronic obstructive pulmonary disease, Chronic otitis media, Decreased number of CD8+ T cells, Dyspnea, Eczema, Fatigue, Fever, Hematemesis, Hematochezia, Hemolytic anemia, Immunodeficiency, Inflammation of the large intestine, Lymphopenia, Microcytic anemia, Petechiae, Prolonged bleeding time, Recurrent infections, Recurrent respiratory infections, Reduced natural killer cell activity, Sinusitis, Specific learning disability, Spontaneous hematomas, Thrombocytopenia
U2	CENPA	1.616592242	8.27E-07	DNA binding protein	BrainSpLMD|1058	OMIM|117139
U2	AURKAIP1	0.842815784	8.43E-07	Enzyme regulator;Cell cycle control protein		OMIM|609183
U2	THEM4	1.261893557	8.45E-07	Unclassified	BrainSpLMD|117145;Eurexp|euxassay_008480|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606388
U2	OAZ1	0.314613792	8.70E-07	Unclassified	BrainSpLMD|4946	OMIM|601579
U2	RNF217	1.532035299	8.72E-07	Integral membrane protein	BrainSpLMD|154214;Eurexp|euxassay_010804|adrenal gland, mantle layer, vertebral axis muscle system	
U2	LRRC4C	0.558832042	8.73E-07	Integral membrane protein	BrainSpLMD|57689	OMIM|608817
U2	CDR2	0.815646882	8.74E-07	DNA binding protein	BrainSpLMD|1039;Eurexp|euxassay_009006|left, mantle layer, right	OMIM|117340
U2	MRE11A	0.914625028	9.01E-07			
U2	TMEM132C	1.612985276	9.17E-07		Eurexp|euxassay_014171|anterior, associated mesenchyme, cochlea, dermal component, dermis, external, incisor, marginal layer, meninges, mesenchyme, molar, nasal cavity, pharynx, urethra, utricle, ventricular layer	
U2	IER3IP1	1.16314887	9.22E-07	Unclassified	BrainSpLMD|51124;Eurexp|euxassay_011577|brain, clavicle, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, left lung, metanephros, olfactory, retina, right lung, spinal cord, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|609382;HPO|51124|Anteverted nares, Autosomal recessive inheritance, Brisk reflexes, Congenital onset, Cortical gyral simplification, Delayed myelination, Diabetes mellitus, Feeding difficulties, Full cheeks, Generalized myoclonic seizures, Global developmental delay, High palate, Hypoplasia of the corpus callosum, Hypsarrhythmia, Intellectual disability, profound, Jaundice, Microcephaly, Muscular hypotonia of the trunk, Narrow forehead, Neonatal hypotonia, Ptosis, Recurrent respiratory infections, Tented upper lip vermilion
U2	SYPL1	0.625189929	9.24E-07	Integral membrane protein	BrainSpLMD|6856;Eurexp|euxassay_005903|embryo	OMIM|616665
U2	RNU2.63P	1.626938208	9.26E-07			
U2	RAD54B	1.165667409	9.34E-07	ATPase	BrainSpLMD|25788	OMIM|604289;HPO|25788|Lymphoma
U2	FLRT2	0.533771041	9.43E-07	Adhesion molecule	BrainSpLMD|23768	OMIM|604807
U2	EIF2S2	0.363476851	9.47E-07	Translation regulatory protein	BrainSpLMD|8894	OMIM|603908
U2	ARL5B	0.277654502	9.51E-07	GTPase	BrainSpLMD|221079	OMIM|608909
U2	DSTNP2	1.849500515	9.56E-07		BrainSpLMD|171220	
U2	ITPRIPL2	1.486497901	9.98E-07	Unclassified		
U2	IGDCC4	0.723692801	1.01E-06	Cell surface receptor	BrainSpLMD|57722;Eurexp|euxassay_007736|diaphragm, footplate, handplate, mantle layer, mesenchyme, oesophagus, rest of mesenchyme, skeletal muscle, tongue, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|616810
U2	PCOLCE2	2.284888046	1.01E-06	Unclassified	BrainSpLMD|26577;Eurexp|euxassay_003749|Meckel's cartilage, axial skeleton, basisphenoid bone, choroid plexus, clavicle, frontal bone primordium, incisor, leg, mesenchyme, molar, olfactory, orbito-sphenoid, otic capsule, respiratory, rib, thymus primordium, trachea, turbinate	OMIM|607064
U2	DDOST	0.604879895	1.02E-06	Enzyme: Galactosyltransferase	BrainSpLMD|1650	OMIM|602202;HPO|1650|Abnormality of the coagulation cascade, Accelerated skeletal maturation, Autosomal recessive inheritance, CNS hypomyelination, Constipation, Decreased liver function, Elevated hepatic transaminases, Esotropia, Failure to thrive, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Infantile onset, Neurodevelopmental delay, Neurological speech impairment, Oromotor apraxia, Osteopenia, Recurrent ear infections, Seizures, Short stature, Strabismus, Tremor, Type I transferrin isoform profile
U2	MAN2A1	1.544704418	1.03E-06	Enzyme: Glycosidase	BrainSpLMD|4124	OMIM|154582
U2	DESI2	0.781961777	1.03E-06	Unclassified	BrainSpLMD|51029	OMIM|614638
U2	TPST1	0.521585805	1.03E-06	Enzyme: Sulphotransferase	BrainSpLMD|8460	OMIM|603125
U2	PPP1R15A	1.031421169	1.04E-06	Cell cycle control protein	BrainSpLMD|23645	OMIM|611048
U2	MIR16.2	1.182946644	1.04E-06			
U2	TNS1	0.55807071	1.05E-06	Adhesion molecule	BrainSpLMD|7145	OMIM|600076
U2	ELOVL5	0.309520914	1.06E-06	Unclassified	BrainSpLMD|60481	OMIM|611805;HPO|60481|Autosomal dominant inheritance, Cerebellar atrophy, Dysarthria, Gait ataxia, Limb ataxia, Nystagmus, Slow progression, Slow saccadic eye movements
U2	DCTD	1.170261805	1.06E-06	Enzyme: Deaminase	BrainSpLMD|1635;Eurexp|euxassay_003473|lung, metanephros, midgut, olfactory, orbito-sphenoid, pancreas, respiratory, submandibular gland primordium, thymus primordium, vibrissa	OMIM|607638
U2	TMEM173	2.257602007	1.13E-06	Unclassified	BrainSpLMD|340061	OMIM|612374;HPO|340061|Anemia, Autosomal dominant inheritance, Cutis marmorata, Elevated erythrocyte sedimentation rate, Erythema, Failure to thrive, Fever, Follicular hyperplasia, Growth delay, Increased antibody level in blood, Interstitial pulmonary abnormality, Leukopenia, Malar rash, Nail dystrophy, Neonatal onset, Pustule, Recurrent respiratory infections, Telangiectasia, Thrombocytosis, Variable expressivity
U2	TGFBR3	1.99024381	1.14E-06	Cell surface receptor	BrainSpLMD|7049;Eurexp|euxassay_015312|atrium, brachial plexus, calyces, choroid invagination, choroid plexus, meninges, mesenchyme, ventricle;BrainSpMouseDev|21573	OMIM|600742
U2	VIMP	1.103966491	1.15E-06			
U2	TNC	0.704887468	1.17E-06	Adhesion molecule	BrainSpLMD|3371;Eurexp|euxassay_009501|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, cochlea, cochlear duct, diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, fibula, handplate, humerus, lip, lung, mandible, mantle layer, maxilla, maxillary division, mesenchyme, molar, nasal septum, oesophagus, orbito-sphenoid, palatal shelf, pelvic girdle, penis, pharyngo-tympanic tube, rib, scapula, skeletal muscle, sternum, temporal bone, thymus primordium, tibia, tongue, trigeminal V, vault of skull, ventral grey horn, ventricle, ventricular layer, vibrissa;BrainSpMouseDev|21680	OMIM|187380;COSMIC||SCC, melanoma;HPO|3371|Autosomal dominant inheritance, Hearing impairment
U2	ID2	0.638293998	1.17E-06	Transcription regulatory protein	BrainSpLMD|3398;BrainSpMouseDev|15675	OMIM|600386
U2	BORA	2.473684693	1.19E-06	Unclassified	BrainSpLMD|79866;Eurexp|euxassay_012253|cortex, incisor, orbito-sphenoid, submandibular gland primordium, temporal bone, thymus primordium, ventricular layer, vibrissa	OMIM|610510
U2	TCF19	1.132054597	1.21E-06	Transcription factor	BrainSpLMD|6941	OMIM|600912
U2	LAP3	0.348460135	1.23E-06	Aminopeptidase	BrainSpLMD|51056;Eurexp|euxassay_002166|ventricular layer	OMIM|170250
U2	NUPL1	0.811681094	1.23E-06			
U2	PHF19	0.677664342	1.24E-06	Transcription regulatory protein	BrainSpLMD|26147;Eurexp|euxassay_004365|cortex, ventricular layer;BrainSpMouseDev|49857	OMIM|609740
U2	ADK	0.950901338	1.24E-06	Enzyme: Phosphotransferase	BrainSpLMD|132;Eurexp|euxassay_001699|Meckel's cartilage, basisphenoid bone, bladder, cortex, exoccipital bone, foregut-midgut junction, hindgut, lobe, lung, midgut, molar, nucleus pulposus, oesophagus, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, rectum, rib, stomach, submandibular gland primordium, thymus primordium, vault of skull, ventricular layer, vertebra	SFARI||Autism, 4 - Minimal evidence;OMIM|102750;HPO|132|Autosomal recessive inheritance, Cerebral atrophy, Cholestasis, Decreased liver function, Delayed speech and language development, Elevated hepatic transaminases, Failure to thrive, Frontal bossing, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Hypertelorism, Infantile onset, Macrocephaly, Narrow foot, Poor speech, Portal fibrosis, Progressive, Seizures, Skeletal muscle atrophy
U2	HELLS	1.01188872	1.24E-06	DNA binding protein	BrainSpLMD|3070	OMIM|603946;HPO|3070|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Congenital onset, Decreased antibody level in blood, Depressed nasal bridge, Epicanthus, Global developmental delay, Hypertelorism, Intellectual disability, Lymphopenia, Macrocephaly, Malabsorption, Micrognathia, Recurrent infections, Recurrent respiratory infections, Short stature
U2	SPTSSA	0.730400505	1.27E-06	Unclassified	BrainSpLMD|171546	OMIM|613540
U2	PEAR1	1.201534436	1.29E-06	Integral membrane protein		OMIM|610278
U2	PI4K2B	2.238890299	1.30E-06	Lipid phosphatase	BrainSpLMD|55300	OMIM|612101
U2	PSMB5	0.963916776	1.32E-06	Ubiquitin proteasome system protein	BrainSpLMD|5693;Eurexp|euxassay_005692|embryo	OMIM|600306
U2	RPN2	0.679488676	1.33E-06	Enzyme: Glycosyltransferase	BrainSpLMD|6185;Eurexp|euxassay_018263|embryo	OMIM|180490
U2	RFTN2	0.833182671	1.37E-06	Unclassified	BrainSpLMD|130132	
U2	UGP2	0.693858593	1.38E-06	Enzyme: Nucleotidyltransferase	BrainSpLMD|7360;Eurexp|euxassay_006932|calyces, cortex, stomach	OMIM|191760
U2	CLMP	0.964410828	1.41E-06		BrainSpLMD|79827;Eurexp|euxassay_001798|mantle layer, marginal layer	OMIM|611693;HPO|79827|Abnormal peristalsis, Autosomal recessive inheritance, Chronic diarrhea, Cognitive impairment, Congenital shortened small intestine, Decreased intestinal transit time, Failure to thrive, Hypotrichosis, Intestinal hypoplasia, Intestinal malrotation, Lipoatrophy, Short stature, Steatorrhea
U2	TMED5	0.817968438	1.41E-06	Unclassified	BrainSpLMD|50999	OMIM|616876
U2	RPN1	1.277400323	1.41E-06	Ubiquitin proteasome system protein	BrainSpLMD|6184;Eurexp|euxassay_003116|chondrocranium	OMIM|180470;COSMIC||AML
U2	C19orf48	1.363416631	1.42E-06	Unclassified	BrainSpLMD|84798	
U2	ATF4	0.815898143	1.42E-06	Transcription factor	BrainSpLMD|468;BrainSpMouseDev|11698	OMIM|604064
U2	C1orf198	0.933763752	1.42E-06	Unclassified	BrainSpLMD|84886;Eurexp|euxassay_016413|dorsal root ganglion, neural retina, ventral grey horn, ventricular layer	
U2	PLOD3	0.755067853	1.44E-06	Enzyme: Hydroxylase	BrainSpLMD|8985;Eurexp|euxassay_000665|axial skeleton, chondrocranium, incisor, nasal capsule, pectoral girdle and thoracic body wall	OMIM|603066;HPO|8985|Abnormality of the pinna, Anteverted nares, Arterial rupture, Autosomal recessive inheritance, Bruising susceptibility, Cataract, Coarse hair, Decreased palmar creases, Diaphragmatic eventration, Dilatation of the cerebral artery, Downturned corners of mouth, Elbow flexion contracture, Flat face, Global developmental delay, Hearing impairment, Hypoplasia of the capital femoral epiphysis, Intrauterine growth retardation, J-shaped sella turcica, Long philtrum, Low-set ears, Malar flattening, Myopia, Nail dysplasia, Osteopenia, Pathologic fracture, Platyspondyly, Postnatal growth retardation, Scoliosis, Shallow orbits, Short nose, Talipes equinovarus, Thenar muscle atrophy
U2	RPL17P50	0.673253154	1.45E-06			
U2	LSM8	0.361826183	1.45E-06	RNA binding protein	BrainSpLMD|51691	OMIM|607288
U2	ENO1	0.471943381	1.45E-06	Enzyme: Hydratase	BrainSpLMD|2023	OMIM|172430
U2	C1orf174	0.329137421	1.46E-06	Unclassified	BrainSpLMD|339448	
U2	GINS1	1.391288472	1.49E-06	Unclassified	BrainSpLMD|9837	OMIM|610608
U2	PTPLAD2	0.650710961	1.49E-06			
U2	DOCK1	0.851647085	1.50E-06	Guanine nucleotide exchange factor	BrainSpLMD|1793	SFARI||Autism, 4 - Minimal evidence;OMIM|601403
U2	NENF	1.253735966	1.50E-06	Secreted polypeptide	BrainSpLMD|29937	OMIM|611874
U2	TARBP2	0.952502521	1.52E-06	RNA binding protein	BrainSpLMD|6895	OMIM|605053
U2	TECR	0.736904555	1.53E-06	Enzyme: Reductase	BrainSpLMD|9524;Eurexp|euxassay_004555|cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, marginal layer, neural retina, nucleus pulposus, rib, right lung, stroma, submandibular gland primordium, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610057;HPO|9524|Autosomal recessive inheritance, Delayed speech and language development, Intellectual disability, Narrow palate
U2	EIF1	0.441795217	1.54E-06	Translation regulatory protein	BrainSpLMD|10209	
U2	FN3KRP	0.335746921	1.56E-06	Enzyme: Phosphotransferase	BrainSpLMD|79672;Eurexp|euxassay_012737|liver	OMIM|611683
U2	TXNDC12	0.599389889	1.61E-06	Enzyme: Reductase	BrainSpLMD|51060	OMIM|609448
U2	NUP37	0.956819446	1.62E-06	Transport/cargo protein	BrainSpLMD|79023;Eurexp|euxassay_006091|ventricular layer	OMIM|609264
U2	UQCRH	0.365711484	1.67E-06	Enzyme: Reductase	Eurexp|euxassay_006525|anterior, axial skeleton, bladder, brain, cortex, epidermis, epithelium, external, footplate, handplate, incisor, inner ear, integumental system, left lung, liver, metanephros, midgut, molar, naso-lacrimal duct, olfactory, pancreas, paraxial mesenchyme, pharyngo-tympanic tube, posterior, rectum, renal/urinary system, rest of mesenchyme, rest of skin, retina, right lung, skeletal muscle, spinal cord, stomach, submandibular gland primordium, thymus primordium, trachea, urethra, vertebral axis muscle system, vibrissa	OMIM|613844
U2	MYLIP	1.063680975	1.71E-06	Ubiquitin proteasome system protein	BrainSpLMD|29116	OMIM|610082
U2	FNDC1	1.969536618	1.71E-06	Unclassified	Eurexp|euxassay_010189|conjunctival sac, dermis, epithelium, lip, mesenchyme, oral epithelium, sublingual gland primordium, submandibular gland primordium	OMIM|609991
U2	DCXR	0.638763588	1.73E-06	Enzyme: Oxidoreductase	BrainSpLMD|51181	OMIM|608347
U2	TRAM1	0.816272786	1.75E-06	Membrane transport protein	BrainSpLMD|23471	OMIM|605190
U2	MAGOHB	0.571910753	1.84E-06	Unclassified	BrainSpLMD|55110	
U2	ZGRF1	1.093671675	1.91E-06	Unclassified	BrainSpLMD|55345;Eurexp|euxassay_012482|ventricular layer	
U2	METTL4	1.394968715	1.93E-06	Enzyme: Methyltransferase	BrainSpLMD|64863	
U2	STAG2	0.632745173	1.96E-06	Cell cycle control protein	BrainSpLMD|10735;Eurexp|euxassay_016892|ventricular layer	OMIM|300826;COSMIC||bladder carcinoma, glioblastoma, melanoma, Ewing's sarcoma, myeloid neoplasms
U2	SEPP1	1.419567685	1.97E-06			
U2	PTPLAD1	0.694903593	2.06E-06			
U2	FIBP	0.487176663	2.08E-06	Unclassified	BrainSpLMD|9158	OMIM|608296;HPO|9158|Autosomal recessive inheritance, Bifid ureter, Coloboma, Deeply set eye, Downslanted palpebral fissures, Epicanthus, Global developmental delay, Hypertelorism, Intellectual disability, mild, Large for gestational age, Large hands, Long foot, Long hallux, Macroglossia, Macrotia, Midface retrusion, Mitral valve prolapse, Overgrowth, Renal malrotation, Round face, Strabismus, Thick vermilion border, Varicose veins
U2	TRIM38	0.890022101	2.17E-06	Ubiquitin proteasome system protein	BrainSpLMD|10475	
U2	MTHFD2	1.640327813	2.18E-06	Enzyme: Dehydrogenase	BrainSpLMD|10797	OMIM|604887
U2	PSAT1	0.759336957	2.18E-06	Enzyme: Aminotransferase	BrainSpLMD|29968;Eurexp|euxassay_001596|cranium, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|610936;HPO|29968|Abnormality of the philtrum, Abnormality of the pinna, Absent septum pellucidum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Broad foot, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cleft palate, Congenital onset, Dandy-Walker malformation, Decreased fetal movement, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Feeding difficulties in infancy, Global developmental delay, High palate, Hypertelorism, Hypertonia, Hypoglycinemia, Hypogonadism, Hyposerinemia, Ichthyosis, Infantile onset, Intrauterine growth retardation, Lack of skin elasticity, Large hands, Lissencephaly, Low-set ears, Macrogyria, Macrotia, Microcephaly, Micrognathia, Muscle cramps, Muscular dystrophy, Opisthotonus, Pachygyria, Polyhydramnios, Polymicrogyria, Postnatal microcephaly, Proptosis, Rocker bottom foot, Scoliosis, Seizures, Short neck, Skeletal muscle atrophy, Sloping forehead, Thick vermilion border, Trismus
U2	LMF2	1.595920492	2.19E-06	Unclassified	BrainSpLMD|91289	
U2	TSC22D3	1.154930143	2.23E-06	Transcription regulatory protein	BrainSpLMD|1831;Eurexp|euxassay_000517|facial bones primordia, optic foramen, orbital fissure, orbito-sphenoid, otic capsule, turbinate, vestibular component;BrainSpMouseDev|14381	OMIM|300506
U2	TMEM98	0.785217504	2.28E-06	Integral membrane protein	BrainSpLMD|26022	OMIM|615949;HPO|26022|Abnormality of the choroid, Autosomal dominant inheritance, Glaucoma, High-grade hypermetropia, Microphthalmia, Strabismus
U2	CCT4	0.422719084	2.35E-06	Chaperone	BrainSpLMD|10575	SFARI||Autism, 3 - Suggestive evidence;OMIM|605142
U2	SSR4	0.456419161	2.35E-06	Membrane transport protein	BrainSpLMD|6748;Eurexp|euxassay_002889|Meckel's cartilage, axial skeleton, basisphenoid bone, chondrocranium, exoccipital bone, incisor, lobe, molar, nasal capsule, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, rib, submandibular gland primordium, thymus primordium, turbinate	OMIM|300090;HPO|6748|Abnormal facial shape, Abnormality of upper lip vermillion, Clinodactyly, Congenital onset, Deeply set eye, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hypospadias, Intellectual disability, Joint dislocation, Macrotia, Microcephaly, Micrognathia, Scoliosis, Seizures, Strabismus, Type I transferrin isoform profile, Vomiting, Wide mouth, Widely spaced teeth, X-linked recessive inheritance
U2	STOM	1.650740538	2.36E-06	Integral membrane protein	BrainSpLMD|2040;Eurexp|euxassay_005540|bladder, hindgut, left, midgut, rectum, right, wall	OMIM|133090;HPO|2040|Autosomal dominant inheritance, Hemolytic anemia, Hepatomegaly, Hyperbilirubinemia, Increased intracellular sodium, Increased red cell osmotic fragility, Jaundice, Reticulocytosis, Splenomegaly, Stomatocytosis
U2	ACTN1	0.938870191	2.36E-06	Cytoskeletal associated protein;Structural protein	BrainSpLMD|87	OMIM|102575;HPO|87|Anisocytosis, Autosomal dominant inheritance, Increased mean platelet volume, Thrombocytopenia
U2	HIPK1	0.341340795	2.43E-06	Serine/threonine kinase	BrainSpLMD|204851	OMIM|608003
U2	WASF2	0.624072784	2.43E-06	Cytoskeletal associated protein	BrainSpLMD|10163	OMIM|605875
U2	RQCD1	0.520319107	2.44E-06			
U2	RNF144B	2.049593329	2.44E-06	Ubiquitin proteasome system protein	BrainSpLMD|255488;Eurexp|euxassay_001593|Meckel's cartilage, basisphenoid bone, bladder, exoccipital bone, frontal bone primordium, incisor, molar, neural retina, oral epithelium, orbito-sphenoid, otic capsule, pectoral girdle and thoracic body wall, rib, tongue, turbinate, vault of skull, ventricular layer, vibrissa	
U2	PDE3A	1.598329459	2.46E-06	Enzyme: Phosphodiesterase	BrainSpLMD|5139;Eurexp|euxassay_018678|aorta, basioccipital bone, bladder, cranium, lip, liver, mantle layer, medullary stroma, mesenchyme, midgut, naris, rectum, stomach, turbinate bones, urethra, ventricular layer, vibrissa	OMIM|123805;HPO|5139|Autosomal dominant inheritance, Brachydactyly, Hypertension, Short metacarpal, Short phalanx of finger, Short stature
U2	HAUS2	1.031285802	2.49E-06	Unclassified	BrainSpLMD|55142	OMIM|613429
U2	POC1A	2.265187078	2.54E-06	Unclassified	BrainSpLMD|25886	OMIM|614783;HPO|25886|Autosomal recessive inheritance, Brachydactyly, Clinodactyly, Cone-shaped epiphysis, Disproportionate short stature, High pitched voice, Hypoplastic pelvis, Hypoplastic sacrum, Long face, Macrocephaly, Mandibular prognathia, Microcephaly, Microtia, Nail dysplasia, Oligospermia, Pointed chin, Prominent forehead, Prominent nose, Short distal phalanx of finger, Short femoral neck, Short metacarpal, Short metatarsal, Small for gestational age, Small hand, Small nail, Sparse hair, Triangular face, Waddling gait
U2	HEXIM1	0.874266005	2.55E-06	Transcription factor	BrainSpLMD|10614	OMIM|607328
U2	RYBP	0.503089234	2.56E-06	Transcription regulatory protein	BrainSpLMD|23429;Eurexp|euxassay_019658|mantle layer, olfactory, vibrissa, vomeronasal organ;BrainSpMouseDev|35633	OMIM|607535
U2	CEP57L1	0.962087709	2.61E-06	Unclassified	BrainSpLMD|285753	
U2	SDC4	1.295652821	2.61E-06	Cell surface receptor	BrainSpLMD|6385;Eurexp|euxassay_007889|calyces, clavicle, epithelium, exoccipital bone, femur, fundus region, hindgut, hip, humerus, intervertebral disc, lung, metatarsus, midgut, nasal septum, oesophagus, orbito-sphenoid, otic capsule, pancreas, pelvis, petrous part, rectum, rib, stomach, submandibular gland primordium, tarsus, thyroid, trachea, turbinate, urethra, vertebral cartilage condensation, vibrissa	OMIM|600017;COSMIC||NSCLC
U2	ERGIC2	0.829403883	2.62E-06	Unclassified	BrainSpLMD|51290	OMIM|612236
U2	MRPL13	0.85594317	2.62E-06	Ribosomal subunit	BrainSpLMD|28998;Eurexp|euxassay_003941|submandibular gland primordium, ventricular layer	OMIM|610200
U2	PLSCR1	1.427738086	2.66E-06	Integral membrane protein	BrainSpLMD|5359;Eurexp|euxassay_008744|calyces, hindgut, midgut, pelvis	OMIM|604170
U2	CTDSPL2	0.892297365	2.75E-06	Unclassified	BrainSpLMD|51496	
U2	SAPCD2	0.999201673	2.76E-06	Unclassified	BrainSpLMD|89958	OMIM|612057
U2	UTP11L	0.46805022	2.76E-06			
U2	PAICS	1.04719035	2.77E-06	Enzyme: Carboxylase	BrainSpLMD|10606;Eurexp|euxassay_018936|marginal layer, nucleus pulposus, submandibular gland primordium, ventricular layer, vibrissa	OMIM|172439
U2	MRPL55	0.504184481	2.79E-06	Ribosomal subunit	BrainSpLMD|128308	OMIM|611859
U2	GAPDHP1	0.362270891	2.80E-06			
U2	DZIP1	0.713589226	2.94E-06	Unclassified	BrainSpLMD|22873;Eurexp|euxassay_006918|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, organ system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|608671
U2	HAUS5	0.536603853	2.96E-06	Unclassified	BrainSpLMD|23354	OMIM|613432
U2	RAD1	0.641112264	2.96E-06	DNA exonuclease	BrainSpLMD|5810;Eurexp|euxassay_012280|ventricular layer	OMIM|603153
U2	KLF10	0.87890594	3.00E-06	Transcription factor	BrainSpLMD|7071	OMIM|601878
U2	NAGA	1.286032274	3.03E-06	Enzyme: Glycosidase	BrainSpLMD|4668;Eurexp|euxassay_018778|choroid invagination, choroid plexus, clavicle, femur, humerus, mandible, maxilla, orbito-sphenoid, rib, roof plate	OMIM|104170;HPO|4668|Abnormal pyramidal signs, Abnormality of brainstem morphology, Abnormality of extrapyramidal motor function, Abnormality of the eye, Adult onset, Aminoaciduria, Angiokeratoma corporis diffusum, Autism, Autosomal recessive inheritance, Axonal degeneration, Cardiomegaly, Cataract, Cerebral atrophy, Coarse facial features, Cognitive impairment, Cortical visual impairment, Depressed nasal bridge, Developmental regression, Distal muscle weakness, Distal sensory impairment, Distal sensory impairment of all modalities, Dry skin, Generalized amyotrophy, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hepatomegaly, Hyperkeratosis, Hyperreflexia, Hypertrophic cardiomyopathy, Increased urinary O-linked sialopeptides, Infantile onset, Intellectual disability, Intellectual disability, mild, Intellectual disability, severe, Lip telangiectasia, Lymphedema, Muscle weakness, Muscular hypotonia, Myoclonus, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Osteopenia, Papule, Peripheral axonal neuropathy, Peripheral neuropathy, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus, Subcutaneous nodule, Telangiectasia of the oral mucosa, Telangiectasia of the skin, Thick lower lip vermilion, Thick vermilion border, Tinnitus, Vertigo, White mater abnormalities in the posterior periventricular region
U2	POLH	1.055752475	3.09E-06	DNA polymerase	BrainSpLMD|5429	OMIM|603968;HPO|5429|Autosomal recessive inheritance, Basal cell carcinoma, Conjunctivitis, Cutaneous melanoma, Cutaneous photosensitivity, Dermal atrophy, Dry skin, Ectropion, Entropion, Freckles in sun-exposed areas, Hypopigmentation of the skin, Keratitis, Melanoma, Photophobia, Poikiloderma, Squamous cell carcinoma, Telangiectasia
U2	SMC5	0.514076541	3.11E-06	Unclassified	BrainSpLMD|23137	OMIM|609386
U2	CCPG1	0.37299672	3.12E-06	Unclassified	BrainSpLMD|9236;Eurexp|euxassay_010511|clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, maxilla, olfactory, orbito-sphenoid, rib, trigeminal V, vagus X	OMIM|611326
U2	GOLGA3	0.440065035	3.16E-06	Structural protein	BrainSpLMD|2802	OMIM|602581
U2	RABAC1	0.578975334	3.21E-06	GTPase activating protein	BrainSpLMD|10567;Eurexp|euxassay_000239|dorsal root ganglion, facial VII, glossopharyngeal IX, medulla oblongata, metencephalon, spinal, spinal cord, trigeminal V, vagus X	OMIM|604925
U2	SMARCA1	0.951938875	3.27E-06	Transcription regulatory protein	BrainSpLMD|6594;Eurexp|euxassay_015278|floorplate, hindgut, midgut, stomach	OMIM|300012
U2	DEK	0.69563508	3.33E-06	DNA binding protein	BrainSpLMD|7913	OMIM|125264;COSMIC||AML
U2	H2AFV	0.608965026	3.34E-06	DNA binding protein	BrainSpLMD|94239;Eurexp|euxassay_010704|metanephros, ventricular layer	
U2	XRCC6BP1	1.696628924	3.43E-06			
U2	RCBTB2	1.137583483	3.43E-06	Guanine nucleotide exchange factor	BrainSpLMD|1102	OMIM|603524
U2	SNTB2	0.516409381	3.56E-06	Adapter molecule	BrainSpLMD|6645	OMIM|600027
U2	WDR61	0.267333655	3.72E-06	Unclassified	BrainSpLMD|80349	OMIM|609540
U2	SNRPGP2	0.297366693	3.76E-06			
U2	NUP107	0.831118753	3.76E-06	Transport/cargo protein	BrainSpLMD|57122	OMIM|607617;HPO|57122|Aplasia/Hypoplasia of the breasts, Aplasia/hypoplasia of the uterus, Autosomal recessive inheritance, Decreased fertility, Decreased serum estradiol, Delayed puberty, Delayed skeletal maturation, Gonadal dysgenesis, Hypoalbuminemia, Increased circulating gonadotropin level, Minimal change glomerulonephritis, Nephrotic syndrome, Osteopenia, Osteoporosis of vertebrae, Premature ovarian insufficiency, Primary amenorrhea, Progressive, Proteinuria, Sparse pubic hair, Stage 5 chronic kidney disease, Streak ovary, Variable expressivity
U2	ADRM1	0.741763985	3.81E-06	Adhesion molecule;Cell surface receptor	BrainSpLMD|11047;Eurexp|euxassay_011943|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|610650
U2	GINS2	0.640098602	3.86E-06	Unclassified	BrainSpLMD|51659	OMIM|610609
U2	LRP11	1.789446044	3.90E-06	Cell surface receptor	BrainSpLMD|84918;Eurexp|euxassay_007470|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, midgut, neural retina, olfactory, stomach, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	
U2	DDX59	1.344729945	3.92E-06	Unclassified;DNA binding protein	BrainSpLMD|83479	OMIM|615464;HPO|83479|Autosomal recessive inheritance, Frontal bossing, Hypertelorism, Intellectual disability, Lobulated tongue, Median cleft lip, Postaxial foot polydactyly, Postaxial hand polydactyly
U2	SKIV2L2	0.305466101	4.03E-06			
U2	CTD.3252C9.4	1.237968309	4.04E-06			
U2	KIAA1683	0.657088858	4.06E-06			
U2	SLC30A7	0.634608984	4.09E-06	Membrane transport protein	BrainSpLMD|148867	OMIM|611149
U2	SSR3	1.014525803	4.10E-06	Membrane transport protein	BrainSpLMD|6747	OMIM|606213
U2	RP11.490H24.5	0.888649554	4.13E-06			
U2	SEC11A	0.62304045	4.16E-06	Aminopeptidase	BrainSpLMD|23478;Eurexp|euxassay_003417|Meckel's cartilage, basisphenoid bone, calyces, cervical, cervico-thoracic, clavicle, dorsal root ganglion, glossopharyngeal IX, incisor, mantle layer, olfactory, orbital fissure, orbito-sphenoid, pancreas, respiratory, submandibular gland primordium, testis, thoracic, trigeminal V, vagus X, ventral grey horn, vibrissa	
U2	PSMG1	1.270484033	4.20E-06	Unclassified	BrainSpLMD|8624;Eurexp|euxassay_007176|adenohypophysis, axial skeleton, dorsal root ganglion, floorplate, glossopharyngeal IX, incisor, lung, mandible, mantle layer, molar, olfactory, rectum, roof plate, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605296
U2	HEXB	2.029981879	4.24E-06	Enzyme: Hydrolase	BrainSpLMD|3074;Eurexp|euxassay_011735|brain, mesenchyme, spinal cord, sternum	OMIM|606873;HPO|3074|Abnormality of glycosphingolipid metabolism, Ataxia, Blindness, Cardiomegaly, Cherry red spot of the macula, Chronic diarrhea, Coarse facial features, Dysarthria, Episodic abdominal pain, Fasciculations, Hepatosplenomegaly, Hyperhidrosis, Hyperreflexia, Hypohidrosis, Impaired thermal sensitivity, Impotence, Macrocephaly, Macroglossia, Muscle weakness, Orthostatic hypotension, Progressive psychomotor deterioration, Skeletal muscle atrophy, Urinary incontinence
U2	SMPD4	0.534630025	4.27E-06	Integral membrane protein	BrainSpLMD|55627;Eurexp|euxassay_012560|ventricular layer	OMIM|610457
U2	TMEM117	1.525187756	4.29E-06	Integral membrane protein	BrainSpLMD|84216	
U2	VKORC1	0.750286426	4.47E-06	Enzyme: Reductase;Coagulation factor	BrainSpLMD|79001;Eurexp|euxassay_000753|Meckel's cartilage, chondrocranium, incisor, molar	OMIM|608547;HPO|79001|Abnormal bleeding, Abnormality of blood and blood-forming tissues, Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Autosomal recessive inheritance, Reduced factor IX activity, Reduced factor VII activity, Reduced factor X activity, Reduced prothrombin activity
U2	GPAA1	0.398514223	4.47E-06	Anchor protein	BrainSpLMD|8733	OMIM|603048
U2	TOX	0.54434987	4.55E-06	DNA binding protein	BrainSpLMD|9760;Eurexp|euxassay_006612|axial skeleton, cervical, cervico-thoracic, clavicle, cricoid, diencephalon, exoccipital bone, femur, hindbrain, inner ear, lip, lung, mandible, mantle layer, mesenchyme, metanephros, metatarsus, midbrain, nasal septum, neural retina, orbito-sphenoid, pelvic girdle, penis, phalanx, rib, scapula, stomach, telencephalon, thoracic, thymus primordium, thyroid, turbinate, vault of skull, vibrissa, vomeronasal organ;BrainSpMouseDev|89963	OMIM|606863
U2	SLC38A2	0.781330731	4.62E-06	Transport/cargo protein	BrainSpLMD|54407;Eurexp|euxassay_019685|adrenal gland, clavicle, incisor, lung, meninges, metanephros, molar, neural retina, phalanx, submandibular gland primordium, turbinate bones, vibrissa	OMIM|605180
U2	RAB1B	0.811542939	4.63E-06	GTPase	BrainSpLMD|81876	OMIM|612565
U2	COQ10B	0.627195324	4.64E-06	Unclassified	BrainSpLMD|80219	
U2	DDX21	0.821243259	4.68E-06	ATPase	BrainSpLMD|9188;Eurexp|euxassay_005701|embryo	OMIM|606357
U2	HADHA	0.664229236	4.77E-06	Enzyme: Dehydrogenase	BrainSpLMD|3030	OMIM|600890;HPO|3030|Abnormality of the amniotic fluid, Autosomal recessive inheritance, Cardiomyopathy, Congestive heart failure, Decreased activity of 3-hydroxyacyl-CoA dehydrogenase, Dilated cardiomyopathy, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Generalized muscle weakness, Global developmental delay, Hepatomegaly, Hydrops fetalis, Hyperammonemia, Hypoglycemia, Hypoketotic hypoglycemia, Lactic acidosis, Muscular hypotonia, Myalgia, Myoglobinuria, Peripheral neuropathy, Pigmentary retinopathy, Prenatal maternal abnormality, Respiratory failure, Rhabdomyolysis, Small for gestational age, Sudden death
U2	CTSB	0.39643345	4.81E-06	Cysteine protease	BrainSpLMD|1508	OMIM|116810;HPO|1508|Erythema
U2	OMD	1.857530694	4.91E-06	Adhesion molecule	BrainSpLMD|4958	COSMIC||aneurysmal bone cyst
U2	SNORD12C	0.738819485	4.95E-06			
U2	CPNE8	1.2902167	5.02E-06	Unclassified	BrainSpLMD|144402	
U2	GNL2	0.794361842	5.06E-06	GTPase	BrainSpLMD|29889;Eurexp|euxassay_001872|cervical, cervico-thoracic, cortex, dorsal root ganglion, thymus primordium, vibrissa	OMIM|609365
U2	UFM1	0.417682083	5.07E-06	Unclassified	BrainSpLMD|51569	OMIM|610553
U2	HIST1H1E	0.656028554	5.10E-06	DNA binding protein	BrainSpLMD|3008;Eurexp|euxassay_005923|embryo	OMIM|142220;HPO|3008|Accelerated skeletal maturation, Amblyopia, Astigmatism, Autosomal dominant inheritance, Camptodactyly, Full cheeks, Global developmental delay, Hypertonia, Intellectual disability, Kyphoscoliosis, Macrocephaly, Neonatal hypotonia, Nevus, Strabismus, Talipes equinovarus, Telecanthus
U2	LGR4	1.660091564	5.13E-06	G protein coupled receptor	BrainSpLMD|55366	OMIM|606666
U2	VCAM1	1.553807569	5.25E-06	Adhesion molecule	BrainSpLMD|7412	OMIM|192225
U2	RDX	0.391115432	5.36E-06	Cytoskeletal associated protein	BrainSpLMD|5962	OMIM|179410;HPO|5962|Autosomal recessive inheritance, Infantile onset, Profound sensorineural hearing impairment
U2	FLNC	0.910943341	5.37E-06	Cytoskeletal associated protein	BrainSpLMD|2318;Eurexp|euxassay_010297|diaphragm, extrinsic ocular muscle, mesenchyme, rest of mesenchyme, skeletal muscle, ventricular layer, vertebral axis muscle system	OMIM|102565;HPO|2318|Abnormal peripheral nervous system morphology, Abnormality of the calf musculature, Adult onset, Autosomal dominant inheritance, Cardiomyopathy, Congestive heart failure, Difficulty climbing stairs, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Dyspnea, Elevated serum creatine phosphokinase, Hyporeflexia, Mildly elevated creatine phosphokinase, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Muscle weakness, Myofibrillar myopathy, Myopathy, Proximal muscle weakness, Respiratory insufficiency, Slow progression, Waddling gait
U2	AAMDC	0.472863207	5.39E-06	Unclassified	BrainSpLMD|28971	
U2	CXCL12	1.735249084	5.40E-06	Chemokine;Cytokine	BrainSpLMD|6387;Eurexp|euxassay_005766|aorta, axial muscle, bladder, cranial muscle, ductus deferens, extrinsic ocular muscle, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, maxillary division, meninges, mesenchyme, metanephros, penis, physiological umbilical hernia, rest of mesenchyme, rib, testis, tongue, turbinate bones;BrainSpMouseDev|20078	OMIM|600835
U2	THSD4	1.712938782	5.47E-06	Unclassified	BrainSpLMD|79875;Eurexp|euxassay_007983|cricoid, lip, metatarsus, rib, skeleton, tongue	OMIM|614476
U2	MGST2	0.594763348	5.51E-06	Enzyme: Glutathione transferase	BrainSpLMD|4258	OMIM|601733
U2	DCP2	1.015468228	5.60E-06	RNA binding protein	BrainSpLMD|167227	OMIM|609844
U2	FAM210A	0.511119793	5.62E-06	Unclassified	BrainSpLMD|125228	
U2	SFT2D1	0.593973462	5.62E-06	Integral membrane protein	BrainSpLMD|113402	
U2	RP13.585F24.1	0.523368914	5.67E-06			
U2	PRCP	0.931655788	5.73E-06	Carboxypeptidase	BrainSpLMD|5547;Eurexp|euxassay_006670|axial muscle, basioccipital bone, lobe, lung, mandible, maxilla, meninges, mesenchyme, orbito-sphenoid, rib, skeletal muscle, thymus primordium	OMIM|176785
U2	PSMA1	0.419479109	6.05E-06	Protease	BrainSpLMD|5682;Eurexp|euxassay_013664|clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, mandible, metanephros, midgut, molar, naris, neural retina, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, submandibular gland primordium, testis, thymus primordium, thyroid, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|602854
U2	IPO7	0.444712273	6.17E-06	Transport/cargo protein	BrainSpLMD|10527	OMIM|605586
U2	SUB1	0.270003094	6.20E-06	Transcription factor	BrainSpLMD|10923	OMIM|600503
U2	SGK1	0.370345265	6.20E-06	Serine/threonine kinase	BrainSpLMD|6446;Eurexp|euxassay_010543|adrenal gland, choroid invagination, choroid plexus, left lung, lip, medullary stroma, mesenchyme, right lung, roof plate, vibrissa;BrainSpMouseDev|20156	OMIM|602958;COSMIC||Nodular lymphocyte predominant Hodgkin lymphoma
U2	DPAGT1	0.909149359	6.49E-06	Enzyme: Glycosyltransferase	BrainSpLMD|1798	OMIM|191350;HPO|1798|Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Clinodactyly of the 5th finger, Congenital onset, Exotropia, Generalized hypotonia, Global developmental delay, Hyperreflexia, Intellectual disability, Inverted nipples, Microcephaly, Micrognathia, Motor delay, Muscular hypotonia, Nystagmus, Proximal muscle weakness, Ptosis, Scoliosis, Seizures, Single transverse palmar crease, Skin dimples, Slow progression, Type I transferrin isoform profile, Variable expressivity
U2	RNF26	1.85718531	6.57E-06	Unclassified	BrainSpLMD|79102	OMIM|606130
U2	SRSF7	0.329901271	6.58E-06	RNA binding protein	BrainSpLMD|6432	OMIM|600572
U2	KDELC1	0.635342703	6.65E-06	Unclassified	BrainSpLMD|79070	OMIM|611613
U2	RN7SL419P	1.308690306	6.72E-06			
U2	NMRAL1	0.46309691	6.90E-06	Unclassified	BrainSpLMD|57407;Eurexp|euxassay_006783|cortex, left lung, marginal layer, metanephros, olfactory lobe, pancreas, right lung, ventricular layer;BrainSpMouseDev|43667	
U2	CDC45	1.640025501	6.95E-06	Cell cycle control protein	BrainSpLMD|8318;Eurexp|euxassay_006791|choroid plexus, marginal layer, ventricular layer	OMIM|603465;HPO|8318|2-3 toe syndactyly, Abnormality of epiphysis morphology, Abnormality of the ribs, Anal atresia, Anal stenosis, Anotia, Aplasia/Hypoplasia of the patella, Aplastic clavicles, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Atrial septal defect, Autosomal recessive inheritance, Bowing of the legs, Camptodactyly of finger, Choanal atresia, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Clubbing, Complete atrioventricular canal defect, Craniosynostosis, Cryptorchidism, Decreased body weight, Delayed skeletal maturation, Duodenal stenosis, Failure to thrive, Feeding difficulties, Global developmental delay, Hearing impairment, High palate, High, narrow palate, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypospadias, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Micropenis, Microtia, Microtia, third degree, Myopia, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Preaxial polydactyly, Progressive microcephaly, Proptosis, Pulmonary hypoplasia, Respiratory distress, Respiratory failure, Retrognathia, Sagittal craniosynostosis, Scoliosis, Severe short stature, Short stature, Slender long bone, Strabismus, Thin eyebrow, Urethral stricture, Ventricular septal defect, Vesicoureteral reflux, Wide anterior fontanel
U2	PSMC3IP	1.531599542	7.07E-06	Unclassified;DNA binding protein	BrainSpLMD|29893;Eurexp|euxassay_003149|incisor, molar, submandibular gland primordium, ventricular layer, vibrissa	OMIM|608665;HPO|29893|Aplasia/Hypoplasia of the breasts, Aplasia/hypoplasia of the uterus, Autosomal recessive inheritance, Decreased fertility, Decreased serum estradiol, Delayed puberty, Delayed skeletal maturation, Gonadal dysgenesis, Increased circulating gonadotropin level, Osteopenia, Osteoporosis of vertebrae, Premature ovarian insufficiency, Primary amenorrhea, Sparse pubic hair, Streak ovary
U2	SEMA3E	1.824412381	7.12E-06	Extracellular matrix protein	BrainSpLMD|9723;Eurexp|euxassay_002631|cochlea, lung, mantle layer, naris, olfactory, respiratory;BrainSpMouseDev|20112	OMIM|608166;HPO|9723|Abnormality of female internal genitalia, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Anophthalmia, Anosmia, Anterior hypopituitarism, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bifid scrotum, Choanal atresia, Chorioretinal coloboma, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased testicular size, Delayed eruption of teeth, Delayed puberty, Depressed nasal bridge, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Duodenal atresia, Dysphagia, Esophageal atresia, External ear malformation, Facial asymmetry, Facial palsy, Feeding difficulties, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypothyroidism, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphopenia, Malar flattening, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Ptosis, Pulmonic stenosis, Sparse axillary hair, Sparse pubic hair, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Umbilical hernia, Ventricular septal defect
U2	B4GALT4	1.569007281	7.16E-06	Enzyme: Galactosyltransferase	BrainSpLMD|8702;Eurexp|euxassay_016198|thyroid	OMIM|604015
U2	2-Sep	0.630897436	7.17E-06			
U2	CCDC150	2.144738926	7.31E-06	Cytoskeletal protein	BrainSpLMD|284992	
U2	PAF1	0.423329249	7.32E-06	Unclassified	BrainSpLMD|54623	OMIM|610506
U2	CD47	0.671201027	7.37E-06	Unclassified	BrainSpLMD|961;Eurexp|euxassay_003895|dorsal root ganglion, floorplate, glossopharyngeal IX, left, lip, mantle layer, marginal layer, olfactory, right, thalamus, thymus primordium, trigeminal V, ventral grey horn;BrainSpMouseDev|16196	OMIM|601028
U2	CCDC47	0.465509472	7.46E-06	Unclassified	BrainSpLMD|57003;Eurexp|euxassay_000833|submandibular gland primordium	
U2	SHMT2	1.195990471	7.47E-06	Enzyme: Methyltransferase	BrainSpLMD|6472;Eurexp|euxassay_001650|axial skeleton, neural retina, nucleus pulposus, orbito-sphenoid, pituitary, submandibular gland primordium, vibrissa	OMIM|138450
U2	HEXA	0.632679629	7.60E-06	Enzyme: Hydrolase	BrainSpLMD|3073;Eurexp|euxassay_009883|mandible, maxilla	OMIM|606869;HPO|3073|Apathy, Aspiration, Autosomal recessive inheritance, Blindness, Cherry red spot of the macula, Dementia, Exaggerated startle response, GM2-ganglioside accumulation, Generalized hypotonia, Infantile onset, Muscular hypotonia, Poor head control, Psychomotor deterioration, Seizures
U2	HIGD1A	0.597564712	7.61E-06	Integral membrane protein		
U2	PRRC1	0.766317951	7.67E-06	Unclassified	BrainSpLMD|133619;Eurexp|euxassay_000739|Meckel's cartilage, chondrocranium, olfactory	
U2	WDR34	0.431276528	7.79E-06	Unclassified	BrainSpLMD|89891	OMIM|613363;HPO|89891|Abdominal distention, Abnormal pelvis bone ossification, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Autosomal recessive inheritance, Bell-shaped thorax, Brachydactyly, Cleft upper lip, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Frontal bossing, Horizontal ribs, Hydronephrosis, Hydrops fetalis, Hypoplasia of penis, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Narrow chest, Postaxial hand polydactyly, Recurrent respiratory infections, Renal hypoplasia, Respiratory insufficiency, Short foot, Short long bone, Short palm, Short ribs, Short thorax, Skeletal dysplasia, Thoracic dysplasia, Urethrovaginal fistula, Uterus didelphys, Wide nose
U2	IMP4	0.513604387	7.81E-06	RNA binding protein	BrainSpLMD|92856;Eurexp|euxassay_003515|axial muscle, submandibular gland primordium, thymus primordium, vibrissa	OMIM|612981
U2	MMP14	0.36401545	8.08E-06	Metallo protease	BrainSpLMD|4323;Eurexp|euxassay_018541|head mesenchyme, mantle layer, rib	OMIM|600754;HPO|4323|Arthropathy, Coarse facial features, Corneal opacity, Generalized osteoporosis, Gingival overgrowth, Osteolysis involving bones of the feet, Osteolysis involving bones of the upper limbs
U2	LINC00669	1.742100568	8.14E-06			
U2	H2AFJ	0.449719219	8.38E-06	DNA binding protein	BrainSpLMD|55766	
U2	RPS16	0.410370264	8.40E-06	Ribosomal subunit	BrainSpLMD|6217	OMIM|603675
U2	PAPSS1	0.615825374	8.43E-06	Enzyme: Synthase	BrainSpLMD|9061	OMIM|603262
U2	ANKRD50	0.369814733	8.45E-06	Unclassified	BrainSpLMD|57182	
U2	AHCY	1.124733281	8.62E-06	Enzyme: Hydrolase	BrainSpLMD|191;Eurexp|euxassay_008402|embryo	OMIM|180960;HPO|191|Abnormal facial shape, Abnormality of the dentition, Autosomal recessive inheritance, Cardiomyopathy, Failure to thrive, Global developmental delay, Hypermethioninemia, Intellectual disability, Motor delay
U2	S100A16	0.622059227	8.84E-06	Calcium binding protein	BrainSpLMD|140576;Eurexp|euxassay_004932|bladder, epidermis, hindgut, lung, medulla, metanephros, midgut, naris, oesophagus, olfactory, rectum, stomach, submandibular gland primordium, thymus primordium, urethra, ventricular layer, vibrissa	OMIM|617437
U2	RP11.3P17.3	0.712068243	8.99E-06			
U2	DBF4	0.947763356	9.01E-06	Cell cycle control protein	BrainSpLMD|10926;Eurexp|euxassay_012740|ventricular layer	OMIM|604281
U2	EME1	1.751402305	9.05E-06	DNA endonuclease	BrainSpLMD|146956;Eurexp|euxassay_007255|axial skeleton, basisphenoid bone, cricoid, exoccipital bone, femur, metatarsus, nasal septum, orbito-sphenoid, otic capsule, petrous part, phalanx, rib, sternum, tarsus, thyroid, trachea, turbinate	OMIM|610885
U2	SNORD100	0.876612715	9.07E-06			
U2	BLVRB	1.267679815	9.17E-06	Enzyme: Oxidoreductase	BrainSpLMD|645;Eurexp|euxassay_004243|liver	OMIM|600941
U2	CAST	0.373529738	9.39E-06	Protease inhibitor	BrainSpLMD|831	OMIM|114090;HPO|831|Angular cheilitis, Autosomal recessive inheritance, Epidermal acanthosis, Leukonychia, Palmoplantar keratoderma, Scaling skin
U2	EMC1	0.928146941	9.40E-06	Unclassified	BrainSpLMD|23065	OMIM|616846;HPO|23065|Anal atresia, Astigmatism, Autosomal recessive inheritance, Cortical visual impairment, Esotropia, Generalized hypotonia, Hypermetropia, Hypoplasia of the corpus callosum, Intellectual disability, Laryngotracheomalacia, Myopia, Optic atrophy, Progressive
U2	CERCAM	0.831837748	9.45E-06	Adhesion molecule	BrainSpLMD|51148;Eurexp|euxassay_009013|clavicle, mandible, maxilla, orbito-sphenoid, ventral grey horn, ventricular layer	OMIM|616626
U2	SLC41A1	0.871964227	9.47E-06	Membrane transport protein	BrainSpLMD|254428;Eurexp|euxassay_012144|meninges, ventricular layer	OMIM|610801
U2	PSMC3	0.768853784	9.53E-06	Ubiquitin proteasome system protein	BrainSpLMD|5702	OMIM|186852
U2	TMEM141	1.120767993	9.79E-06	Unclassified	BrainSpLMD|85014	
U2	SPPL2A	0.799354292	9.86E-06		BrainSpLMD|84888;Eurexp|euxassay_010397|clavicle, mandible, maxilla, orbito-sphenoid, rib, thymus primordium	OMIM|608238
U2	MCAM	0.974247687	9.87E-06	Adhesion molecule	BrainSpLMD|4162	OMIM|155735
U2	RANBP1	0.260729602	9.87E-06	Transport/cargo protein		OMIM|601180
U2	CNOT10	0.619807231	9.91E-06	Unclassified	BrainSpLMD|25904	
U2	OIP5	1.440607575	9.92E-06	Unclassified	BrainSpLMD|11339	OMIM|606020
U2	TMBIM6	0.591171212	1.00E-05	Integral membrane protein	BrainSpLMD|7009	OMIM|600748
U2	SMCO4	1.917401126	1.02E-05	Integral membrane protein	BrainSpLMD|56935	OMIM|609477
U2	ZFAND1	1.155114598	1.03E-05	Unclassified	BrainSpLMD|79752	
U2	CLU	0.313980433	1.03E-05	Complement protein	BrainSpLMD|1191;BrainSpMouseDev|12543	OMIM|185430
U2	GTF2H2C	0.781009633	1.04E-05	Unclassified		
U2	N4BP2	0.462248345	1.04E-05	DNA binding protein	BrainSpLMD|55728	
U2	ETV3	0.428506572	1.05E-05	Transcription factor	BrainSpLMD|2117;BrainSpMouseDev|26794	OMIM|164873
U2	USP13	0.253929178	1.05E-05	Ubiquitin proteasome system protein	BrainSpLMD|8975	OMIM|603591
U2	ISOC1	0.745862852	1.06E-05	Unclassified	BrainSpLMD|51015;BrainSpMouseDev|42150	
U2	DNAJC14	1.75523505	1.11E-05	Chaperone		OMIM|606092
U2	MTHFD1	1.418334412	1.11E-05	Enzyme: Dehydrogenase	BrainSpLMD|4522;Eurexp|euxassay_004845|axial muscle, fundus, incisor, left, left lung, lumen, molar, oesophagus, pancreas, right, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|172460
U2	ACTL6A	0.430020723	1.12E-05	DNA binding protein	BrainSpLMD|86;Eurexp|euxassay_013581|cortex, epithelium, incisor, left lung, liver, molar, olfactory, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|604958
U2	APMAP	0.646535106	1.12E-05	Unclassified	BrainSpLMD|57136;Eurexp|euxassay_005406|olfactory	OMIM|615884
U2	SREK1	0.537048347	1.12E-05	RNA binding protein	BrainSpLMD|140890	OMIM|609268
U2	SPIN4	1.864841328	1.13E-05	Unclassified		
U2	TACC3	1.368834748	1.13E-05	Cell cycle control protein	BrainSpLMD|10460;Eurexp|euxassay_003324|marginal layer, nucleus pulposus, optic chiasma, optic stalk, submandibular gland primordium, ventral grey horn, ventricular layer	OMIM|605303
U2	TARS	0.268362012	1.20E-05	Enzyme: Ligase	BrainSpLMD|6897;Eurexp|euxassay_006234|cortex, left, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|187790
U2	AZI2	0.401693237	1.20E-05	Unclassified	BrainSpLMD|64343	OMIM|609916
U2	FZD7	0.361703026	1.21E-05	G protein coupled receptor	BrainSpLMD|8324;BrainSpMouseDev|14145	OMIM|603410
U2	RPS6	0.494791519	1.22E-05	Ribosomal subunit	BrainSpLMD|6194	OMIM|180460
U2	CEP70	0.560884258	1.23E-05	Structural protein	BrainSpLMD|80321	OMIM|614310
U2	XRCC6	0.501966984	1.24E-05	DNA binding protein	BrainSpLMD|2547;Eurexp|euxassay_003500|axial muscle, left, orbito-sphenoid, pancreas, right, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|152690
U2	DNA2	1.410272299	1.25E-05	DNA helicase		OMIM|601810;HPO|1763|Autosomal dominant inheritance, Autosomal recessive inheritance, Convex nasal ridge, Ectopic kidney, Elevated serum creatine phosphokinase, Exercise intolerance, Exertional dyspnea, Facial palsy, Gait disturbance, Generalized amyotrophy, Global developmental delay, Gowers sign, Intellectual disability, Kyphoscoliosis, Limb-girdle muscle weakness, Microcephaly, Micrognathia, Muscle cramps, Myalgia, Progressive external ophthalmoplegia, Ptosis, Short stature, Slender build, Slow progression, Spinal cord compression
U2	TRIM5	1.603021402	1.26E-05	Ubiquitin proteasome system protein	BrainSpLMD|85363	OMIM|608487
U2	TMEM245	0.517069907	1.26E-05	Integral membrane protein	BrainSpLMD|23731;Eurexp|euxassay_000141|dorsal root ganglion, trigeminal V, vagus X, vestibulocochlear VIII	
U2	CCDC152	0.462423628	1.26E-05	Unclassified		
U2	CNTLN	0.572220352	1.26E-05	Unclassified	BrainSpLMD|54875	OMIM|611870
U2	TCP1	0.335340749	1.28E-05	Chaperone	BrainSpLMD|6950	OMIM|186980
U2	NT5DC2	0.390904275	1.29E-05	Unclassified	BrainSpLMD|64943;Eurexp|euxassay_009884|axial muscle, bladder, choroid plexus, cortex, lung, mandible, mantle layer, maxilla, neural retina, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, thyroid, turbinate bones, vault of skull, ventricular layer	
U2	FLRT3	0.824910784	1.29E-05	Adhesion molecule	BrainSpLMD|23767;Eurexp|euxassay_006295|axial skeleton, bladder, eyelid, incisor, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, molar, pharyngo-tympanic tube, physiological umbilical hernia, pituitary, submandibular gland primordium, ventricular layer, vibrissa	OMIM|604808;HPO|23767|Abnormality of the voice, Anosmia, Anterior hypopituitarism, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Delayed puberty, Erectile abnormalities, Gynecomastia, Hypogonadotrophic hypogonadism, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Primary amenorrhea, Reduced bone mineral density, Sparse axillary hair, Sparse pubic hair
U2	CREB3L2	1.690674522	1.29E-05	Transcription factor	BrainSpLMD|64764;BrainSpMouseDev|83997	OMIM|608834;COSMIC||fibromyxoid sarcoma
U2	C1orf85	1.668246819	1.31E-05			
U2	NFATC2	1.453975111	1.33E-05	Transcription factor	BrainSpLMD|4773;Eurexp|euxassay_013856|lip;BrainSpMouseDev|17786	OMIM|600490;COSMIC||Ewing sarcoma
U2	YME1L1	0.300523387	1.36E-05	Metallo protease	BrainSpLMD|10730	OMIM|607472;HPO|10730|Amblyopia, Autosomal recessive inheritance, Brain atrophy, Cerebellar hypoplasia, Dysmetria, Facial diplegia, Global developmental delay, Hyperactivity, Hyperkinesis, Hypermetropia, Infantile onset, Intellectual disability, Leukoencephalopathy, Macrocephaly, Macrotia, Microcephaly, Midface retrusion, Myopia, Optic atrophy, Short stature, Strabismus, Visual impairment
U2	MT.RNR2	0.688180034	1.37E-05			
U2	NFE2L1	1.032032023	1.37E-05	Transcription factor	BrainSpLMD|4779;BrainSpMouseDev|17790	OMIM|163260
U2	GLT8D1	1.281478059	1.38E-05	Unclassified;Enzyme: Transferase	BrainSpLMD|55830	
U2	ID1	0.781099272	1.39E-05	Transcription regulatory protein	BrainSpLMD|3397;BrainSpMouseDev|15674	OMIM|600349
U2	PVRL3	0.528050537	1.44E-05			
U2	IARS	0.614933707	1.44E-05	Enzyme: Ligase	BrainSpLMD|3376;Eurexp|euxassay_001939|Meckel's cartilage, cervical, cervico-thoracic, cortex, dorsal root ganglion, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	OMIM|600709;HPO|3376|Autosomal recessive inheritance, Congenital onset, Failure to thrive, Generalized hypotonia, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Microcephaly, Postnatal growth retardation, Variable expressivity
U2	CKLF	1.313619761	1.47E-05	Chemokine	BrainSpLMD|51192	OMIM|616074
U2	LIMA1	1.099648793	1.47E-05	Cytoskeletal protein	BrainSpLMD|51474	OMIM|608364
U2	MRPL18	0.585741946	1.52E-05	Ribosomal subunit	BrainSpLMD|29074	OMIM|611831
U2	HEPH	2.474660142	1.53E-05	Enzyme: Oxidase	BrainSpLMD|9843	OMIM|300167
U2	FANCL	0.756521319	1.55E-05	Enzyme: Ligase	BrainSpLMD|55120;Eurexp|euxassay_006857|ventricular layer	OMIM|608111;HPO|55120|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Cafe-au-lait spot, Chromosome breakage, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Phenotypic variability, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
U2	CALR	0.559253308	1.55E-05	Chaperone	BrainSpLMD|811	OMIM|109091;COSMIC||MPN, MDS;HPO|811|Abnormal platelet morphology, Abnormality of the skeletal system, Acrocyanosis, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Chest pain, Hypertension, Impaired platelet aggregation, Increased megakaryocyte count, Myelofibrosis, Myeloproliferative disorder, Myocardial infarction, Paresthesia, Prolonged bleeding time, Somatic mutation, Splenomegaly, Thrombocytosis, Transient ischemic attack, Venous thrombosis
U2	MORF4L2	0.790028363	1.57E-05	Transcription regulatory protein	BrainSpLMD|9643;Eurexp|euxassay_007035|embryo	OMIM|300409
U2	PTX3	0.864653093	1.57E-05	Secreted polypeptide	BrainSpLMD|5806	OMIM|602492
U2	FDX1	1.365491006	1.58E-05	Enzyme: Oxidoreductase	BrainSpLMD|2230	OMIM|103260
U2	OSER1	0.385212782	1.59E-05	Unclassified	BrainSpLMD|51526	
U2	CHD1	0.360895673	1.60E-05	DNA binding protein	BrainSpLMD|1105	OMIM|602118
U2	SSR1	0.400714005	1.65E-05	Membrane transport protein	BrainSpLMD|6745;Eurexp|euxassay_011321|basioccipital bone, basisphenoid bone, cartilaginous ring, clavicle, cricoid, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, metacarpus, molar, naris, orbito-sphenoid, otic capsule, pancreas, paraxial mesenchyme, pelvic girdle, petrous part, radius, scapula, submandibular gland primordium, thyroid, tibia, turbinate bones, ulna, vault of skull	OMIM|600868
U2	RFWD3	1.279498634	1.66E-05	Unclassified	BrainSpLMD|55159	OMIM|614151
U2	POLR2H	0.581564114	1.67E-05	RNA polymerase	BrainSpLMD|5437;Eurexp|euxassay_004889|cortex, mantle layer, submandibular gland primordium, testis, thymus primordium, ventricular layer;BrainSpMouseDev|89478	OMIM|606023
U2	EIF3FP3	0.729811869	1.68E-05			
U2	HPRT1	1.738449684	1.68E-05	Enzyme: Ribosyltransferase	BrainSpLMD|3251;Eurexp|euxassay_015575|Meckel's cartilage, dorsal root ganglion, facial VII, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, oesophagus, orbito-sphenoid, pancreas, rectum, stomach, submandibular gland primordium, thymus primordium, trigeminal V, urethra, ventral grey horn, vibrissa	OMIM|308000;HPO|3251|Abnormality of extrapyramidal motor function, Abnormality of movement, Anemia, Behavioral abnormality, Choreoathetosis, Dysarthria, Dysphagia, Dystonia, Generalized hypotonia, Gout, Hematuria, Hemiplegia/hemiparesis, Hyperreflexia, Hyperuricosuria, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Megaloblastic anemia, Motor delay, Nephrolithiasis, Opisthotonus, Podagra, Renal insufficiency, Short stature, Spasticity, Testicular atrophy, Vomiting, X-linked recessive inheritance
U2	IER5	0.789131359	1.69E-05	Transcription regulatory protein	BrainSpLMD|51278	OMIM|607177
U2	ITGAV	1.012336468	1.69E-05	Cell surface receptor	BrainSpLMD|3685;Eurexp|euxassay_009584|brain, calyces, incisor, mandible, maxilla, mesenchyme, midgut, molar, spinal cord, stomach, submandibular gland primordium, ventricular layer;BrainSpMouseDev|16183	OMIM|193210;COSMIC||large intestine carcinoma
U2	PRTFDC1	0.74264819	1.71E-05	Unclassified	BrainSpLMD|56952	OMIM|610751
U2	HNRNPA1P8	0.373117769	1.71E-05			
U2	GPN1	0.713486658	1.73E-05	GTPase	BrainSpLMD|11321;Eurexp|euxassay_003421|sublingual gland primordium, submandibular gland primordium	OMIM|611479
U2	EPS8	0.908528885	1.75E-05	Adapter molecule	BrainSpLMD|2059;Eurexp|euxassay_004434|adrenal gland, lung, mantle layer, marginal layer, mesenchyme, metanephros, midgut, nasal septum, pancreas, rectum, testis, thymus primordium, turbinate bones	SFARI||Autism, No category;OMIM|600206;HPO|2059|Autosomal recessive inheritance, Congenital onset, Profound hearing impairment
U2	RHEB	0.860541562	1.75E-05	GTPase	BrainSpLMD|6009;Eurexp|euxassay_000326|basioccipital bone, basisphenoid bone, dorsal root ganglion, midbrain, nucleus pulposus, olfactory lobe, otic capsule, ventricular layer;BrainSpMouseDev|19507	OMIM|601293
U2	CYCS	0.805393921	1.75E-05	Enzyme: Oxidase	BrainSpLMD|54205;Eurexp|euxassay_000644|Meckel's cartilage, basal plate, calyces, chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, molar, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|123970;HPO|54205|Autosomal dominant inheritance, Thrombocytopenia
U2	MGST3	0.362485512	1.78E-05	Enzyme: Glutathione transferase	BrainSpLMD|4259;Eurexp|euxassay_015092|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, neural retina, olfactory, spinal cord, stomach, stroma, thoracic, trigeminal V, urethra, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42290	OMIM|604564
U2	BAMBI	1.664585958	1.79E-05	Unclassified	BrainSpLMD|25805;Eurexp|euxassay_003079|Meckel's cartilage, axial skeleton, basisphenoid bone, bladder, calyces, chondrocranium, clavicle, ductus deferens, exoccipital bone, external, femur, genital tubercle, glossopharyngeal IX, incisor, limb, lip, lung, mesenchyme, molar, nasal capsule, orbito-sphenoid, penis, rib, skin, trigeminal V, turbinate, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|43853	OMIM|604444
U2	RPSAP58	0.940155334	1.80E-05		BrainSpLMD|388524	
U2	COPS8	0.297005045	1.81E-05	Regulatory/other subunit	BrainSpLMD|10920	OMIM|616011
U2	ZNF652	0.262446666	1.81E-05	DNA binding protein	BrainSpLMD|22834	OMIM|613907
U2	PPIAP22	0.451922355	1.83E-05			
U2	P4HA3	1.968678369	1.86E-05	Enzyme: Oxidoreductase	BrainSpLMD|283208;Eurexp|euxassay_007679|aorta, basioccipital bone, basisphenoid bone, clavicle, cricoid, femur, fibula, floorplate, humerus, lung, mandible, maxilla, mesenchyme, metatarsus, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, rib, scapula, temporal bone, thymus primordium, thyroid, tibia, turbinate, ventricular layer	OMIM|608987
U2	PDCD4	0.657981089	1.86E-05	Unclassified	BrainSpLMD|27250;Eurexp|euxassay_010730|epidermis, epithelium, floor plate, floorplate, larynx, olfactory, sternum, thymus primordium, urethra, ventricular layer	OMIM|608610
U2	TMEM38B	1.677803347	1.87E-05	Integral membrane protein	BrainSpLMD|55151	OMIM|611236;HPO|55151|Autosomal recessive inheritance, Osteopenia, Recurrent fractures
U2	PDE5A	0.409162311	1.87E-05	Enzyme: Phosphodiesterase	BrainSpLMD|8654;BrainSpMouseDev|88926	OMIM|603310
U2	NSMCE1	0.616996111	1.93E-05	Unclassified	BrainSpLMD|197370	OMIM|617263
U2	SNX2	0.820339758	1.97E-05	Transport/cargo protein	BrainSpLMD|6643	OMIM|605929
U2	GPC6	1.114741274	1.99E-05	Growth factor	BrainSpLMD|10082	SFARI||Autism, 4 - Minimal evidence;OMIM|604404;HPO|10082|Anterolateral radial head dislocation, Atrial septal defect, Autosomal recessive inheritance, Axillary pterygia, Blepharophimosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Fibular hypoplasia, Flat face, Frontal bossing, Hemangioma, Hypoplastic distal humeri, Increased fibular diameter, Limited elbow extension, Limited elbow flexion, Limited elbow flexion/extension, Limited hip movement, Limited knee extension, Limited knee flexion, Limited knee flexion/extension, Long philtrum, Malar flattening, Micrognathia, Popliteal pterygium, Pulmonary artery stenosis, Rhizomelia, Short humerus, Short neck, Short nose, Short tibia, Umbilical hernia, Ventricular septal defect, Wide nasal bridge
U2	NRD1	0.76486869	1.99E-05			
U2	DONSON	0.797263543	2.03E-05	Unclassified	BrainSpLMD|29980	OMIM|611428;HPO|29980|Abnormality of the hand, Autosomal recessive inheritance, Forearm undergrowth, Intrauterine growth retardation, Microcephaly, Micromelia
U2	THAP9.AS1	0.365446232	2.04E-05			
U2	MCFD2	0.679058699	2.06E-05	Unclassified	BrainSpLMD|90411;Eurexp|euxassay_000692|Meckel's cartilage, chondrocranium, incisor, molar	OMIM|607788;HPO|90411|Autosomal recessive inheritance, Epistaxis, Menorrhagia, Persistent bleeding after trauma, Reduced factor V activity, Reduced factor VIII activity
U2	CASP3	0.50981901	2.06E-05	Cysteine protease	BrainSpLMD|836;Eurexp|euxassay_018739|mantle layer, olfactory, vomeronasal organ;BrainSpMouseDev|12152	OMIM|600636
U2	CENPJ	0.738295349	2.11E-05	Cytoskeletal protein	BrainSpLMD|55835;Eurexp|euxassay_014821|cortex, incisor, lung, marginal layer, molar, neural retina, olfactory, pituitary, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ	OMIM|609279;HPO|55835|11 pairs of ribs, Abnormal cortical bone morphology, Abnormality of dental enamel, Absent earlobe, Agenesis of corpus callosum, Autosomal recessive inheritance, Cachexia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital onset, Convex nasal ridge, Craniosynostosis, Decreased body weight, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Heterogeneous, Heterotopia, High forehead, Hip dysplasia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Pachygyria, Prematurely aged appearance, Reduced number of teeth, Retrognathia, Sandal gap, Short stature, Sloping forehead, Small cerebral cortex, Sparse scalp hair, Steep acetabular roof, Thin upper lip vermilion, Underdeveloped nasal alae, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
U2	DEPDC1B	1.191423528	2.12E-05	Unclassified	BrainSpLMD|55789	OMIM|616073
U2	GINM1	0.331827472	2.13E-05	Integral membrane protein	BrainSpLMD|116254	
U2	CCDC6	0.353896389	2.13E-05	Unclassified;Cell cycle control protein	BrainSpLMD|8030	OMIM|601985;COSMIC||papillary thyroid, CML, NSCLC;HPO|8030|Autosomal dominant inheritance, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma
U2	ARL1	1.491830745	2.14E-05	GTPase	BrainSpLMD|400	OMIM|603425
U2	RPS18	0.516819026	2.16E-05	Ribosomal subunit	BrainSpLMD|6222	OMIM|180473
U2	MCM10	0.557574928	2.16E-05	DNA binding protein	BrainSpLMD|55388	OMIM|609357
U2	SH3BGRL	0.54908234	2.21E-05	Unclassified	BrainSpLMD|6451	OMIM|300190
U2	MEA1	0.316576388	2.21E-05	Unclassified	BrainSpLMD|4201	OMIM|143170
U2	FAT1	0.89890336	2.22E-05	Adhesion molecule	BrainSpLMD|2195;Eurexp|euxassay_013462|axial skeleton, lung, mandible, maxilla, mesenchyme, rest of mesenchyme, sternum, submandibular gland primordium, vibrissa;BrainSpMouseDev|13884	SFARI||Autism, No category;OMIM|600976;COSMIC||oral squamous cell, chemorefractory CLL, head and neck, pancreatic acinar cell carcinoma, pancreatic
U2	NFIC	0.492385593	2.23E-05	Transcription factor	BrainSpLMD|4782;Eurexp|euxassay_008959|mesenchyme;BrainSpMouseDev|17796	OMIM|600729
U2	CASP7	1.790465608	2.24E-05	Cysteine protease	BrainSpLMD|840;Eurexp|euxassay_006180|choroid invagination, choroid plexus, olfactory, roof plate, thymus primordium	OMIM|601761
U2	PPP1R7	0.268359105	2.25E-05	Serine/threonine phosphatase	BrainSpLMD|5510	OMIM|602877
U2	SPCS1	0.441143793	2.27E-05	Unclassified	BrainSpLMD|28972;Eurexp|euxassay_008166|mandible, maxilla	OMIM|610358
U2	MDH1	0.484464468	2.27E-05	Enzyme: Dehydrogenase	BrainSpLMD|4190	OMIM|154200
U2	NAMPT	1.009622597	2.34E-05	Cytokine	BrainSpLMD|10135;Eurexp|euxassay_004817|axial muscle	OMIM|608764
U2	KIF4B	0.972553542	2.35E-05	Motor protein		OMIM|609184
U2	RPL39L	1.333927393	2.37E-05	Ribosomal subunit	BrainSpLMD|116832	OMIM|607547
U2	OSBPL1A	0.668343238	2.43E-05	Transport/cargo protein	BrainSpLMD|114876	OMIM|606730
U2	MTA3	1.221815493	2.48E-05	Transcription regulatory protein	BrainSpLMD|57504;BrainSpMouseDev|78179	OMIM|609050
U2	MIS18A	0.284124991	2.49E-05	Unclassified	BrainSpLMD|54069	
U2	STK3	0.917845908	2.52E-05	Serine/threonine kinase	BrainSpLMD|6788	OMIM|605030
U2	ELMSAN1	0.577639652	2.54E-05	DNA binding protein	BrainSpLMD|91748	
U2	HNRNPM	0.480168036	2.55E-05	Ribonucleoprotein	BrainSpLMD|4670	OMIM|160994
U2	ANKRD40	0.52797524	2.55E-05	Unclassified	BrainSpLMD|91369	
U2	ASPH	0.638551544	2.56E-05	Enzyme: Hydroxylase	BrainSpLMD|444	OMIM|600582;HPO|444|Abnormal facial shape, Autosomal recessive inheritance, Convex nasal ridge, Dental malocclusion, Downslanted palpebral fissures, Ectopia lentis, Iris atrophy, Large beaked nose, Prominent nose, Retrognathia
U2	LUZP2	1.232487475	2.58E-05	Unclassified	BrainSpLMD|338645;Eurexp|euxassay_015946|marginal layer, ventricular layer	OMIM|608178
U2	MAPKAPK2	0.40531327	2.59E-05	Serine/threonine kinase	BrainSpLMD|9261	OMIM|602006
U2	GLS	0.444167938	2.61E-05	Enzyme: Deaminase	BrainSpLMD|2744;BrainSpMouseDev|14436	OMIM|138280
U2	SERTAD4	0.617708111	2.62E-05	Unclassified	BrainSpLMD|56256	
U2	RWDD2B	1.240604442	2.64E-05	Unclassified;Enzyme: Phosphatase	BrainSpLMD|10069	
U2	SGCE	0.940047171	2.67E-05	Extracellular matrix protein	BrainSpLMD|8910	OMIM|604149;HPO|8910|Agoraphobia, Anxiety, Autosomal dominant inheritance, Depressivity, Incomplete penetrance, Juvenile onset, Myoclonus, Obsessive-compulsive behavior, Torticollis, Tremor, Writer's cramp
U2	TUT1	1.078076521	2.69E-05	RNA binding protein	BrainSpLMD|64852	OMIM|610641
U2	SFSWAP	0.25605837	2.69E-05	RNA binding protein	BrainSpLMD|6433	OMIM|601945
U2	NCL	0.343545066	2.70E-05	RNA binding protein	BrainSpLMD|4691;Eurexp|euxassay_007121|embryo	OMIM|164035
U2	LEF1	1.56576321	2.73E-05	Transcription factor	BrainSpLMD|51176;BrainSpMouseDev|16613	OMIM|153245;COSMIC||B-ALL, T-ALL, eyelid sebaceous carcinoma, AML, lymphomas
U2	KLF6	0.335722291	2.73E-05	Transcription factor	BrainSpLMD|1316;Eurexp|euxassay_018886|mantle layer, marginal layer;BrainSpMouseDev|23602	OMIM|602053;COSMIC||prostate, glioma;HPO|1316|Autosomal dominant inheritance, Prostate cancer, Somatic mutation, Stomach cancer
U2	SND1	0.874024128	2.74E-05	Transcription regulatory protein	BrainSpLMD|27044	SFARI||Autism, 4 - Minimal evidence;OMIM|602181;COSMIC||pancreas acinar carcinoma
U2	PRKAR1A	0.750412399	2.75E-05	Serine/threonine kinase	BrainSpLMD|5573;Eurexp|euxassay_001469|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V	OMIM|188830;COSMIC||papillary thyroid, myxoma, endocrine, papillary thyroid;HPO|5573|Abnormal form of the vertebral bodies, Abnormal prolactin level, Abnormality of circulating adrenocorticotropin level, Abnormality of female external genitalia, Abnormality of immune system physiology, Abnormality of the eye, Abnormality of the nail, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Adrenal hyperplasia, Agitation, Anteverted nares, Anxiety, Autism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bacterial endocarditis, Blue irides, Blue nevus, Brachycephaly, Brachydactyly, Broad nasal tip, Broad palm, Bruising susceptibility, Calvarial hyperostosis, Cardiac myxoma, Cerebral venous thrombosis, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Congenital craniofacial dysostosis, Congenital hypothyroidism, Congestive heart failure, Cryptorchidism, Decreased circulating ACTH level, Delayed eruption of teeth, Delayed speech and language development, Dental malocclusion, Depressed nasal bridge, Depressed nasal ridge, Depressivity, Diabetes mellitus, Dislocated radial head, Disproportionate short-limb short stature, Easy fatigability, Elevated calcitonin, Elevated circulating parathyroid hormone level, Enlarged polycystic ovaries, Epicanthus, Epiphyseal stippling, Exertional dyspnea, Fatigue, Freckling, Global developmental delay, Growth hormone deficiency, Growth hormone excess, Hearing impairment, Heart murmur, Heterogeneous, Hirsutism, Hydrocephalus, Hyperactivity, Hyperphosphatemia, Hypertelorism, Hypertension, Hypocalcemia, Hypodontia, Hypogonadism, Hypoplasia of the maxilla, Hypoplasia of the nasal bone, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic vertebral bodies, Hypospadias, Increased circulating cortisol level, Increased intracranial pressure, Increased susceptibility to fractures, Increased urinary cortisol level, Intellectual disability, Intrauterine growth retardation, Kyphosis, Long hallux, Malar flattening, Mandibular prognathia, Melanocytic nevus, Menstrual irregularities, Mental deterioration, Micromelia, Midface retrusion, Mild postnatal growth retardation, Mild short stature, Mood changes, Multiple lentigines, Muscle weakness, Myxoid subcutaneous tumors, Narrow vertebral interpedicular distance, Neonatal epiphyseal stippling, Nevus, Non-medullary thyroid carcinoma, Obesity, Onset, Open mouth, Optic atrophy, Osteopenia, Osteoporosis, Papillary thyroid carcinoma, Paradoxical increased cortisol secretion on dexamethasone suppression test, Peripheral Schwannoma, Peripheral neuropathy, Pheochromocytoma, Pigmented micronodular adrenocortical disease, Pituitary adenoma, Pituitary growth hormone cell adenoma, Primary hypercorticolism, Profuse pigmented skin lesions, Pseudohypoparathyroidism, Psychosis, Pulmonic valve myxoma, Red hair, Round face, Schwannoma, Scoliosis, Short metacarpal, Short metatarsal, Short nose, Short palm, Short phalanx of finger, Short stature, Short toe, Skeletal muscle atrophy, Slender build, Specific learning disability, Spinal canal stenosis, Strabismus, Striae distensae, Thin skin, Thyroid adenoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Truncal obesity, Vestibular Schwannoma, Wide nasal bridge
U2	PM20D2	0.660705837	2.77E-05	Metallo protease		OMIM|615913
U2	PDE7B	1.14445034	2.79E-05	Enzyme: Phosphodiesterase	BrainSpLMD|27115	OMIM|604645
U2	DIS3	0.785154348	2.80E-05	RNA binding protein	BrainSpLMD|22894;Eurexp|euxassay_001502|cortex, thymus primordium, ventricular layer	OMIM|607533
U2	GLO1	0.779617056	2.85E-05	Enzyme: Lyase	BrainSpLMD|2739	SFARI||Autism, 4 - Minimal evidence;OMIM|138750
U2	C9orf3	1.405212307	2.88E-05	Aminopeptidase	BrainSpLMD|84909	
U2	CAP1	0.273701921	2.89E-05	Unclassified	BrainSpLMD|10487	
U2	HMGA2	1.322863961	2.90E-05	Transcription factor	BrainSpLMD|8091;Eurexp|euxassay_003865|axial skeleton, cochlea, cortex, fibula, handplate, hindgut, humerus, lung, metanephros, metatarsus, midgut, oesophagus, pancreas, pelvic girdle, phalanx, pituitary, rib, stomach, sublingual gland primordium, thymus primordium, thyroid, tibia, trachea, turbinate bones, ventricular layer;BrainSpMouseDev|15139	OMIM|600698;COSMIC||lipoma, leiomyoma, pleomorphic salivary gland adenoma;HPO|8091|Autosomal dominant inheritance, Delayed speech and language development, Failure to thrive, Global developmental delay, Hyperpigmentation of the skin, Hypertelorism, Intellectual disability, mild, Intrauterine growth retardation, Osteopoikilosis, Short stature, Somatic mutation, Specific learning disability, Subcutaneous nodule, Tremor, Uterine leiomyoma
U2	TMEM115	1.173062399	2.92E-05	Unclassified	BrainSpLMD|11070	OMIM|607069
U2	RASSF8.AS1	0.602262502	2.95E-05			
U2	SRSF6	0.269632926	2.99E-05	RNA binding protein	BrainSpLMD|6431;Eurexp|euxassay_012639|pituitary, ventricular layer, vibrissa	OMIM|601944
U2	SLC25A40	1.91543921	3.00E-05	Transport/cargo protein	BrainSpLMD|55972	OMIM|610821
U2	YIPF5	0.294069192	3.02E-05	Unclassified	BrainSpLMD|81555;Eurexp|euxassay_002709|Meckel's cartilage, orbito-sphenoid	OMIM|611483
U2	ISY1	0.412782144	3.03E-05	Unclassified	BrainSpLMD|57461	OMIM|612764
U2	INCENP	1.303291917	3.08E-05	Cell cycle control protein	BrainSpLMD|3619;Eurexp|euxassay_004695|ventricular layer	OMIM|604411
U2	SLC9A1	1.497498644	3.11E-05	Membrane transport protein	BrainSpLMD|6548;Eurexp|euxassay_019740|foregut-midgut junction, hindgut, midgut, stomach	OMIM|107310;HPO|6548|Action tremor, Autosomal recessive inheritance, Dysarthria, Dysdiadochokinesis, Dysmetria, Gait ataxia, Limb ataxia, Motor delay, Progressive
U2	RP4.706A16.3	0.377309888	3.13E-05			
U2	WDR76	0.681924098	3.16E-05	Unclassified	BrainSpLMD|79968	
U2	VKORC1L1	1.073062165	3.25E-05	Integral membrane protein	BrainSpLMD|154807	OMIM|608838
U2	RAP2C	1.026519809	3.26E-05	GTPase	BrainSpLMD|57826	
U2	PTPRG	0.299464386	3.28E-05	Receptor tyrosine phosphatase	BrainSpLMD|5793	OMIM|176886
U2	RAB1A	0.57158792	3.32E-05	GTPase	BrainSpLMD|5861	OMIM|179508
U2	PROS1	0.521083862	3.32E-05	Coagulation factor	BrainSpLMD|5627;Eurexp|euxassay_009526|frenulum, incisor, liver, molar;BrainSpMouseDev|18891	OMIM|176880;HPO|5627|Arterial thrombosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cerebral hemorrhage, Cerebral venous thrombosis, Deep venous thrombosis, Disseminated intravascular coagulation, Hypercoagulability, Pulmonary embolism, Purpura, Reduced protein S activity, Retinopathy, Superficial thrombophlebitis, Thin skin, Thrombophlebitis, Warfarin-induced skin necrosis
U2	RPL23	0.263985223	3.33E-05	Ribosomal subunit	BrainSpLMD|9349	OMIM|603662
U2	TM9SF2	0.823092341	3.35E-05	Integral membrane protein	BrainSpLMD|9375;Eurexp|euxassay_008168|basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, left, midgut, orbito-sphenoid, otic capsule, petrous part, rib, right, turbinate	OMIM|604678
U2	NGFRAP1	0.371678499	3.40E-05			
U2	ATP5L	0.356536387	3.42E-05			
U2	ADAMTSL3	0.89687863	3.43E-05	Metallo protease	BrainSpLMD|57188	OMIM|609199
U2	UROD	0.469338497	3.47E-05	Enzyme: Decarboxylase	BrainSpLMD|7389;Eurexp|euxassay_009238|liver, marginal layer, ventricular layer	OMIM|613521;HPO|7389|Alopecia, Autosomal dominant inheritance, Cirrhosis, Cutaneous photosensitivity, Facial hypertrichosis, Fragile skin, Hemolytic anemia, Hepatocellular carcinoma, Hyperpigmentation in sun-exposed areas, Onycholysis, Scleroderma, Thin skin
U2	ARID5B	0.57032773	3.48E-05	DNA binding protein	Eurexp|euxassay_016566|mantle layer;BrainSpMouseDev|47212	OMIM|608538
U2	POLR2J2	0.729477596	3.49E-05	RNA polymerase		OMIM|609881
U2	KITLG	0.569876119	3.51E-05	Growth factor	BrainSpLMD|4254;Eurexp|euxassay_003584|dorsal root ganglion, glomeruli, mantle layer, marginal layer, naris, neural retina, olfactory, olfactory cortex, stroma, thymus primordium, trachea, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|17080	OMIM|184745;HPO|4254|Autosomal dominant inheritance, Cafe-au-lait spot, Heterochromia iridis, Hyperkeratosis, Hypopigmented skin patches, Infantile onset, Multiple lentigines, Premature graying of hair, Progressive hyperpigmentation, Sensorineural hearing impairment, White forelock
U2	FANCD2P2	0.92284274	3.51E-05			
U2	PPP2CA	0.765842766	3.53E-05	Serine/threonine phosphatase	BrainSpLMD|5515	OMIM|176915
U2	USP48	0.68466913	3.53E-05	Ubiquitin proteasome system protein	BrainSpLMD|84196	OMIM|617445
U2	ESD	0.352430335	3.55E-05	Enzyme: Esterase	BrainSpLMD|2098	OMIM|133280
U2	PHLPP2	0.485290627	3.64E-05	Serine/threonine phosphatase		OMIM|611066
U2	SNRNP27	0.525676246	3.65E-05	Unclassified	BrainSpLMD|11017;Eurexp|euxassay_005931|embryo	
U2	ARF1	0.454212202	3.68E-05	GTPase	BrainSpLMD|375	OMIM|103180
U2	OSMR	2.391160672	3.77E-05	Cytokine receptor	BrainSpLMD|9180	OMIM|601743;HPO|9180|Abnormality of the cranial nerves, Adult onset, Amyloidosis, Autosomal dominant inheritance, Cutis laxa, Lattice corneal dystrophy, Pruritus
U2	SMAD7	2.045114612	3.82E-05	Transcription regulatory protein	BrainSpLMD|4092;BrainSpMouseDev|16901	OMIM|602932
U2	BMP2	1.165333925	3.87E-05	Ligand	BrainSpLMD|650;Eurexp|euxassay_013498|metanephros, vibrissa;BrainSpMouseDev|11942	OMIM|112261;HPO|650|2-3 toe syndactyly, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Autosomal dominant inheritance, Bracket epiphysis of the middle phalanx of the 2nd finger, Bracket epiphysis of the middle phalanx of the 5th finger, Broad hallux, Clinodactyly of the 5th finger, Downslanted palpebral fissures, Epicanthus, Global developmental delay, Hallux valgus, Hypertelorism, Hypoplasia of the maxilla, Macrocephaly, Malar flattening, Medially deviated second toe, Narrow mouth, Radial deviation of the 2nd finger, Short 2nd finger, Short foot, Short hallux, Short middle phalanx of the 5th finger, Short stature, Triangular shaped middle phalanx of the 2nd finger, Triangular shaped middle phalanx of the 5th finger, Type A2 brachydactyly, Ulnar deviation of the 2nd finger, Wolff-Parkinson-White syndrome
U2	SHC1	2.03743608	3.89E-05	Adapter molecule	BrainSpLMD|6464;BrainSpMouseDev|20179	OMIM|600560
U2	GTF2A1	0.5036246	3.92E-05	Transcription factor	BrainSpLMD|2957;Eurexp|euxassay_010712|olfactory	OMIM|600520
U2	ALDH16A1	0.329036851	4.09E-05	Unclassified	BrainSpLMD|126133	OMIM|613358
U2	PSMC2	0.428566568	4.14E-05	Ubiquitin proteasome system protein	BrainSpLMD|5701	OMIM|154365
U2	RWDD1	0.259674388	4.16E-05	Unclassified	BrainSpLMD|51389	
U2	SLC43A3	0.71896356	4.19E-05	Membrane transport protein	BrainSpLMD|29015	
U2	PLBD1	1.609182605	4.22E-05	Unclassified	BrainSpLMD|79887;Eurexp|euxassay_001850|epidermis, lateral recess, vibrissa	
U2	PRKAR2A	0.459922796	4.24E-05	Serine/threonine kinase	BrainSpLMD|5576	OMIM|176910
U2	RSU1	0.784824209	4.25E-05	Unclassified	BrainSpLMD|6251	OMIM|179555
U2	CRNDE	1.866679108	4.27E-05			OMIM|615624
U2	RWDD4P2	0.864633766	4.51E-05			
U2	XPO1	0.627914709	4.65E-05	Transport/cargo protein	BrainSpLMD|7514	SFARI||Autism, 4 - Minimal evidence;OMIM|602559;COSMIC||CLL
U2	ZCCHC3	0.287582836	4.68E-05	Unclassified	BrainSpLMD|85364;Eurexp|euxassay_012888|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, humerus, mantle layer, orbito-sphenoid, pelvic girdle, rib, scapula, temporal bone, vault of skull, ventral grey horn	
U2	ANGPT1	1.732064361	4.79E-05	Growth factor	BrainSpLMD|284;BrainSpMouseDev|11387	OMIM|601667
U2	FKBP10	1.362530385	4.86E-05	Unclassified	BrainSpLMD|60681	OMIM|607063;HPO|60681|Abnormality of the skin, Ankle contracture, Aplasia/Hypoplasia of the patella, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Biconcave vertebral bodies, Blue sclerae, Brachycephaly, Coxa vara, Dentinogenesis imperfecta, Elbow flexion contracture, Elevated alkaline phosphatase, Gait disturbance, Hip contracture, Increased susceptibility to fractures, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Protrusio acetabuli, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes, Talipes equinovarus, Triangular face, Vertebral compression fractures, Vertebral wedging, Wormian bones
U2	TMEM97	0.883395853	4.87E-05	Unclassified	BrainSpLMD|27346;Eurexp|euxassay_006766|axial skeleton, clavicle, cranium, digit 1, digit 2, digit 3, digit 4, digit 5, femur, fibula, handplate, humerus, incisor, liver, mandible, maxilla, naris, pancreas, petrous part, radius, rib, scapula, submandibular gland primordium, tibia, turbinate bones, ulna, vibrissa	OMIM|612912
U2	ADAMTS9	0.977864175	4.89E-05	Metallo protease	BrainSpLMD|56999	OMIM|605421
U2	ALDOA	0.350910857	4.92E-05	Enzyme: Lyase;Enzyme: Aldolase	BrainSpLMD|226	OMIM|103850;HPO|226|Autosomal recessive inheritance, Cholecystitis, Cholelithiasis, Delayed puberty, Epicanthus, Jaundice, Low posterior hairline, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Ptosis, Short neck, Short stature, Splenomegaly
U2	TCF12	0.463632519	4.94E-05	Transcription factor	BrainSpLMD|6938;BrainSpMouseDev|21167	OMIM|600480;COSMIC||extraskeletal myxoid chondrosarcoma;HPO|6938|Autosomal dominant inheritance, Brachycephaly, Broad forehead, Craniosynostosis, Facial asymmetry, Frontal bossing, Hearing impairment, Increased intracranial pressure, Plagiocephaly, Proptosis, Strabismus, Underdeveloped supraorbital ridges, Visual field defect
U2	FOPNL	0.430510857	4.96E-05	Cytoskeletal protein	BrainSpLMD|123811	OMIM|617149
U2	GGCT	0.310561177	5.18E-05	Unclassified	BrainSpLMD|79017	OMIM|137170
U2	RPL10AP6	1.686605415	5.23E-05			
U2	PSMD6.AS2	0.742497402	5.24E-05			
U2	NOL10	0.321247539	5.25E-05	Unclassified	BrainSpLMD|79954	OMIM|616197
U2	PLEKHH2	0.764337558	5.31E-05	Cytoskeletal protein	BrainSpLMD|130271	OMIM|612723
U2	SDK2	0.32722727	5.34E-05	Adhesion molecule	BrainSpLMD|54549;Eurexp|euxassay_009454|clavicle, femur, mantle layer, tongue, ventral grey horn, ventricular layer	OMIM|607217
U2	RP11.488L18.10	0.312172351	5.36E-05			
U2	ARFIP1	0.643945868	5.37E-05	Unclassified	BrainSpLMD|27236	OMIM|605928
U2	RP11.65J3.1	1.636215375	5.41E-05			
U2	ELP6	0.393090147	5.46E-05	Unclassified	BrainSpLMD|54859	OMIM|615020
U2	EIF3G	0.381131609	5.46E-05	Translation regulatory protein	BrainSpLMD|8666	SFARI||Autism, 4 - Minimal evidence;OMIM|603913
U2	RC3H2	0.405784333	5.49E-05	DNA binding protein	BrainSpLMD|54542	OMIM|615231
U2	DDX60	0.929271495	5.55E-05	DNA binding protein	BrainSpLMD|55601	OMIM|613974
U2	CLDND1	0.695166786	5.56E-05	Unclassified	BrainSpLMD|56650;Eurexp|euxassay_006238|embryo	
U2	CTNNB1	0.276843108	5.70E-05	Adhesion molecule	BrainSpLMD|1499;BrainSpMouseDev|12172	SFARI||Autism, 3 - Suggestive evidence;OMIM|116806;COSMIC||colorectal, ovarian, hepatoblastoma, pleomorphic salivary gland adenoma, other tumour types;HPO|1499|Abdominal pain, Abnormal hypothalamus morphology, Abnormal visual field test, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Autosomal dominant inheritance, Autosomal recessive inheritance, Bitemporal hemianopia, Breast carcinoma, Central adrenal insufficiency, Central diabetes insipidus, Cerebral calcification, Desmoid tumors, Dysgerminoma, Elevated alpha-fetoprotein, Enlarged pituitary gland, Epigastric pain, Excessive daytime somnolence, Fatigue, Generalized hypotonia, Global developmental delay, Headache, Hepatic fibrosis, Hepatic necrosis, Hepatocellular carcinoma, Hepatomegaly, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hypogonadotrophic hypogonadism, Hypoplasia of the corpus callosum, Incomplete penetrance, Infantile onset, Intellectual disability, Intestinal polyposis, Intracranial cystic lesion, Long philtrum, Malabsorption, Medulloblastoma, Microcephaly, Micronodular cirrhosis, Myalgia, Nausea and vomiting, Neoplasm of the anterior pituitary, Neoplasm of the stomach, Neurological speech impairment, Obesity, Ovarian papillary adenocarcinoma, Papilledema, Pilomatrixoma, Pituitary hypothyroidism, Portal vein thrombosis, Progressive visual field defects, Prolactin excess, Renal cell carcinoma, Slow decrease in visual acuity, Somatic mutation, Spastic diplegia, Strabismus, Subacute progressive viral hepatitis, Subcutaneous nodule, Thin upper lip vermilion, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Vomiting
U2	ZW10	1.748137162	5.74E-05	Cell cycle control protein	BrainSpLMD|9183	OMIM|603954
U2	FGD6	1.208198934	5.80E-05	Unclassified	BrainSpLMD|55785	OMIM|613520
U2	NCAPH2	0.686107588	5.80E-05	Unclassified	BrainSpLMD|29781;Eurexp|euxassay_006527|embryo	OMIM|611230
U2	SOX6	0.264904877	5.82E-05	Transcription factor	BrainSpLMD|55553;BrainSpMouseDev|20441	OMIM|607257
U2	STAG1	0.704012222	5.84E-05	Cell cycle control protein	BrainSpLMD|10274	SFARI||Autism, No category;OMIM|604358;COSMIC||colorectal cancer, AML
U2	GALNT1	0.811845198	5.88E-05	Enzyme: Galactosyltransferase	BrainSpLMD|2589;Eurexp|euxassay_004959|4th ventricle, clavicle, incisor, liver, lung, mandible, maxilla, metanephros, orbito-sphenoid, palatal shelf, retina, thymus primordium, trachea, ventricular layer	OMIM|602273
U2	DGCR6L	0.943804216	5.88E-05	Unclassified	BrainSpLMD|85359	OMIM|609459
U2	MCM6	1.697646053	5.91E-05	Cell cycle control protein	BrainSpLMD|4175	OMIM|601806;HPO|4175|Abdominal pain, Autosomal dominant inheritance, Autosomal recessive inheritance, Decreased small intestinal mucosa lactase activity, Diarrhea, Lactose intolerance
U2	CKAP5	0.783227002	6.00E-05	Cytoskeletal associated protein	BrainSpLMD|9793;Eurexp|euxassay_011048|cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, molar, olfactory, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|611142
U2	CNTN1	1.139173911	6.11E-05	Adhesion molecule	BrainSpLMD|1272;Eurexp|euxassay_006852|4th ventricle, calyces, choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, marginal layer, maxilla, neural retina, olfactory, pelvis, pituitary, trigeminal V, ureter, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|12588	OMIM|600016;HPO|1272|Akinesia, Arachnodactyly, Areflexia, Autosomal recessive inheritance, Camptodactyly, Death in infancy, Fetal akinesia sequence, High, narrow palate, Hypertelorism, Joint contracture of the hand, Neonatal hypotonia, Oval face, Overlapping fingers, Polyhydramnios, Poor suck, Respiratory insufficiency due to muscle weakness, Scaphocephaly, Small for gestational age
U2	SIN3A	0.3651848	6.26E-05	Transcription regulatory protein	BrainSpLMD|25942	SFARI||Autism, 4 - Minimal evidence;OMIM|607776;HPO|25942|Abnormality of cardiovascular system morphology, Abnormality of the outer ear, Abnormality of the thorax, Abnormality of the voice, Aggressive behavior, Anisocoria, Anteverted nares, Arachnodactyly, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Brachydactyly, Cafe-au-lait spot, Clinodactyly, Congenital diaphragmatic hernia, Conspicuously happy disposition, Cryptorchidism, Cupped ear, Deeply set eye, Delayed speech and language development, Depressed nasal bridge, Developmental regression, Downslanted palpebral fissures, Dysplastic corpus callosum, Epicanthus, Facial asymmetry, Feeding difficulties in infancy, Fine hair, Flared nostrils, Gastrointestinal atresia, Generalized hypotonia, Global developmental delay, Growth delay, Growth hormone deficiency, Hearing impairment, High anterior hairline, High forehead, High palate, High, narrow palate, Highly arched eyebrow, Hyperactivity, Hypermetropia, Hypertelorism, Hypogonadism, Hypoplasia of the corpus callosum, Hypospadias, Immunodeficiency, Inguinal hernia, Intellectual disability, Intellectual disability, mild, Intestinal atresia, Intrauterine growth retardation, Iris coloboma, Joint hyperflexibility, Joint laxity, Long face, Long philtrum, Macrotia, Medial flaring of the eyebrow, Microcephaly, Micropenis, Microphallus, Microphthalmia, Microretrognathia, Muscular hypotonia, Narrow face, Narrow mouth, Nystagmus, Obesity, Open mouth, Phenotypic variability, Polyhydramnios, Prominent nasal bridge, Proximal placement of thumb, Radial deviation of finger, Recurrent infections, Scoliosis, Short nose, Short palm, Short stature, Short thumb, Single transverse palmar crease, Sleep disturbance, Small for gestational age, Smooth philtrum, Sparse and thin eyebrow, Sporadic, Strabismus, Thick lower lip vermilion, Thick nasal alae, Thin vermilion border, Toe syndactyly, Underdeveloped nasal alae, Upslanted palpebral fissure, Ventriculomegaly, Wide nasal bridge, Wide nose, Widely spaced teeth
U2	NAALADL2	1.21669724	6.28E-05	Unclassified	BrainSpLMD|254827;Eurexp|euxassay_016082|bladder, metanephros, oesophagus, olfactory, pancreas, stomach, urethra, vertebral axis muscle system, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|608806
U2	KCTD9	0.41414842	6.33E-05	Ion channel	BrainSpLMD|54793;BrainSpMouseDev|69605	OMIM|617265
U2	REST	0.400328241	6.35E-05	Transcription regulatory protein	BrainSpLMD|5978;BrainSpMouseDev|19475	OMIM|600571;HPO|5978|Abdominal pain, Gingival fibromatosis, Gingival overgrowth, Nephroblastoma
U2	RP11.359E3.4	2.328618819	6.63E-05			
U2	TUBB	0.356202399	6.64E-05	Cytoskeletal protein	BrainSpLMD|203068	OMIM|191130;HPO|203068|Abnormality of cardiovascular system morphology, Abnormality of the skin, Ataxia, Autosomal dominant inheritance, Blepharophimosis, Brachycephaly, Cerebellar hypoplasia, Cleft palate, Congenital onset, Delayed speech and language development, Edema, Epicanthus, Flat face, Global developmental delay, High palate, Hypertelorism, Hypoplasia of the brainstem, Hypoplastic nipples, Increased number of skin folds, Intellectual disability, Irregular hyperpigmentation, Localized neuroblastoma, Low-set ears, Microcephaly, Motor delay, Narrow mouth, Periorbital fullness, Posteriorly rotated ears, Short neck, Short palpebral fissure, Thickened skin, Wide intermamillary distance
U2	TMEM248	0.667022354	6.76E-05	Unclassified	BrainSpLMD|55069;Eurexp|euxassay_012566|ventricle	
U2	CAPN2	0.303315295	6.89E-05	Cysteine protease	BrainSpLMD|824;Eurexp|euxassay_015893|floor plate, floorplate, mantle layer	OMIM|114230
U2	POLG2	0.536730798	6.95E-05	DNA polymerase	BrainSpLMD|11232	OMIM|604983;HPO|11232|Adult onset, Arrhythmia, Autosomal dominant inheritance, Cytochrome C oxidase-negative muscle fibers, Elevated serum creatine phosphokinase, Exercise intolerance, Facial palsy, Glucose intolerance, Increased serum lactate, Limb muscle weakness, Multiple mitochondrial DNA deletions, Myalgia, Progressive, Progressive external ophthalmoplegia, Progressive muscle weakness, Ptosis, Variable expressivity
U2	RP2	1.308252493	7.12E-05	Structural protein	BrainSpLMD|6102;Eurexp|euxassay_014375|lung, olfactory	OMIM|300757;HPO|6102|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Blindness, Cataract, Chorioretinal degeneration, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Myopia, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge, X-linked inheritance
U2	KNSTRN	1.121425464	7.19E-05	Unclassified		OMIM|614718;COSMIC||SCC
U2	UBC	0.535474775	7.21E-05	Ubiquitin proteasome system protein	BrainSpLMD|7316	OMIM|191340
U2	GULP1	0.419845651	7.23E-05	Adapter molecule	BrainSpLMD|51454	OMIM|608165
U2	PON2	0.295155211	7.24E-05	Enzyme: Esterase	BrainSpLMD|5445	OMIM|602447;HPO|5445|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
U2	ZMYM1	0.863248081	7.28E-05	Unclassified	BrainSpLMD|79830	
U2	FBXO17	0.757331912	7.32E-05	Ubiquitin proteasome system protein	BrainSpLMD|115290	OMIM|609094
U2	DNAJA1	0.689514469	7.34E-05	Heat shock protein	BrainSpLMD|3301	OMIM|602837
U2	PCF11	0.915402867	7.35E-05	RNA binding protein	BrainSpLMD|51585	OMIM|608876
U2	PIEZO2	1.022296551	7.36E-05	Unclassified	BrainSpLMD|63895	OMIM|613629;HPO|63895|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the rib cage, Abnormality of the sternum, Absent palmar crease, Absent phalangeal crease, Agenesis of corpus callosum, Anteverted nares, Aplasia/Hypoplasia involving the skeletal musculature, Arachnodactyly, Areflexia, Arthrogryposis multiplex congenita, Astigmatism, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Bifid uvula, Bilateral talipes equinovarus, Blepharophimosis, Broad-based gait, Camptodactyly, Camptodactyly of finger, Camptodactyly of toe, Cerebellar hypoplasia, Cleft palate, Clinodactyly, Congenital contracture, Congenital finger flexion contractures, Congenital hip dislocation, Cryptorchidism, Cutaneous finger syndactyly, Dandy-Walker malformation, Decreased facial expression, Decreased hip abduction, Decreased muscle mass, Decreased palmar creases, Deeply set eye, Deviation of finger, Dextrocardia, Dimple chin, Distal arthrogryposis, Down-sloping shoulders, Duane anomaly, Dysarthria, Epicanthus, Facial asymmetry, Failure to thrive, Feeding difficulties, Firm muscles, Fixed facial expression, Generalized hypotonia, Global developmental delay, High palate, High, narrow palate, Hip dysplasia, Hypertelorism, Hypoplasia of the brainstem, Hypospadias, Inability to walk, Inferior vermis hypoplasia, Inguinal hernia, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Joint stiffness, Keratoconus, Keratoglobus, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Limited wrist extension, Long nose, Long philtrum, Low-set ears, Lumbar hyperlordosis, Macrotia, Mask-like facies, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Motor delay, Muscular dystrophy, Muscular hypotonia, Myopathic facies, Narrow mouth, Ophthalmoplegia, Optic atrophy, Overlapping toe, Pectus carinatum, Pectus excavatum, Pes planus, Poor head control, Posteriorly rotated ears, Postnatal growth retardation, Primitive reflex, Progressive, Protruding ear, Ptosis, Pulmonary hypoplasia, Pyloric stenosis, Radioulnar synostosis, Renal hypoplasia, Respiratory insufficiency, Restrictive ventilatory defect, Retrognathia, Scoliosis, Seizures, Sensory ataxia, Sensory axonal neuropathy, Severe short stature, Short neck, Short palpebral fissure, Short phalanx of finger, Short stature, Single transverse palmar crease, Skeletal muscle atrophy, Specific learning disability, Strabismus, Submucous cleft hard palate, Talipes, Talipes equinovarus, Thin upper lip vermilion, Thoracolumbar scoliosis, Triangular face, Ulnar deviation of the hand or of fingers of the hand, Visual impairment, Wide anterior fontanel, Wide nasal bridge, Zollinger-Ellison syndrome
U2	SYNGR1	0.270198433	7.41E-05	Integral membrane protein	BrainSpLMD|9145	OMIM|603925
U2	PPP4R2	0.850777798	7.42E-05	Serine/threonine phosphatase	BrainSpLMD|151987	OMIM|613822
U2	PAPPA	1.011631171	7.50E-05	Metallo protease	BrainSpLMD|5069	OMIM|176385
U2	GANAB	0.945629523	7.51E-05	Enzyme: Hydrolase	BrainSpLMD|23193	OMIM|104160;HPO|23193|Autosomal dominant inheritance, Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia, Variable expressivity
U2	COPB2	0.374926173	7.58E-05	Transport/cargo protein	BrainSpLMD|9276;Eurexp|euxassay_003332|cervical, cervico-thoracic, glomeruli, incisor, left, marginal layer, olfactory, right, submandibular gland primordium, testis, thoracic, thymus primordium, ventricular layer, vibrissa	OMIM|606990
U2	PDK1	0.563198151	7.59E-05	Enzyme: Phosphotransferase	BrainSpLMD|5163;Eurexp|euxassay_018748|axial skeleton, foregut-midgut junction, hindgut, incisor, mesenchyme, midgut, molar, orbito-sphenoid, rectum, stomach, thymus primordium, turbinate, urethra, ventricular layer, vibrissa	OMIM|602524
U2	NAA50	0.86910657	7.70E-05	Enzyme: Acyltransferase	BrainSpLMD|80218	OMIM|610834
U2	SPCS3	0.4669385	7.75E-05	Protease	BrainSpLMD|60559	
U2	DCPS	1.684231246	7.78E-05	Enzyme: Hydrolase	BrainSpLMD|28960;Eurexp|euxassay_013612|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral wall, mantle layer, medulla, midgut, naris, neural retina, olfactory, pons, rest of cerebellum, saccule, stomach, thoracic, trigeminal V, vagus X, valve, vestibulocochlear VIII, vomeronasal organ	OMIM|610534;HPO|28960|Autosomal recessive inheritance, Brachydactyly, Congenital onset, Deeply set eye, Flat face, Generalized hypotonia, Global developmental delay, Hypopigmentation of the skin, Joint laxity, Low-set ears, Microcephaly, Narrow mouth, Sandal gap, Short nose, Thin upper lip vermilion, Unsteady gait
U2	SLC29A1	0.664390343	7.85E-05	Membrane transport protein	BrainSpLMD|2030;Eurexp|euxassay_019687|liver, lobe, phalanx, testis, thymus primordium, tongue, vertebral axis muscle system	OMIM|602193
U2	CTGF	2.018443585	7.88E-05	Extracellular matrix protein	BrainSpLMD|1490;Eurexp|euxassay_004838|alimentary system, aorta, arch of aorta, axial skeleton, basioccipital bone, basisphenoid bone, bladder, cardiac muscle, carotid artery, cartilage, clavicle, cortex, cricoid, descending, dorsal aorta, exoccipital bone, fibula, humerus, incisor, laryngeal, larynx, lung, meninges, mesenchyme, metanephros, metatarsus, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, palatal shelf, pelvic girdle, petrous part, phalanx, pharyngo-tympanic tube, pulmonary artery, pulmonary trunk, respiratory tract, rib, scapula, skeletal muscle, skeleton, sternum, stomach, temporal bone, thoracic aorta, thyroid, tibia, trachea, tubo-tympanic recess, turbinate bones, umbilical artery, vault of skull, ventricle, ventricular layer, vomeronasal organ;BrainSpMouseDev|13996	OMIM|121009;HPO|1490|Arthralgia, Arthritis, Autoimmunity, Carious teeth, Dyspareunia, Dysphagia, Dyspnea, Flexion contracture, Gastroesophageal reflux, Hypopigmented skin patches, Malabsorption, Mucosal telangiectasiae, Muscle weakness, Narrow foramen obturatorium, Nausea and vomiting, Oliguria, Osteolysis, Pulmonary fibrosis, Pulmonary infiltrates, Skin ulcer, Telangiectasia of the skin, Xerostomia
U2	BAD	1.045392519	7.92E-05	Cell cycle control protein	BrainSpLMD|572	OMIM|603167
U2	NEO1	0.342630714	7.94E-05	Cell surface receptor	BrainSpLMD|4756;Eurexp|euxassay_018461|axial skeleton, diaphragm, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lung, mandible, mantle layer, marginal layer, maxilla, nasal septum, pericardial cavity, turbinate bones, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|17774	SFARI||Autism, 4 - Minimal evidence;OMIM|601907
U2	ST13	0.290915523	8.04E-05	Adapter molecule	BrainSpLMD|6767	OMIM|606796
U2	COPA	0.34152981	8.06E-05	Transport/cargo protein	BrainSpLMD|1314;Eurexp|euxassay_003303|clavicle, mandible, maxilla, rib	OMIM|601924
U2	RP11.490K7.4	0.508449279	8.08E-05			
U2	RHEBP2	0.793308998	8.09E-05			
U2	SEC13	0.498999451	8.13E-05	Transport/cargo protein	BrainSpLMD|6396;Eurexp|euxassay_004833|cranium, mandible, maxilla	OMIM|600152
U2	RPA2	0.719940194	8.18E-05	DNA binding protein	BrainSpLMD|6118;Eurexp|euxassay_004500|marginal layer, ventricular layer	OMIM|179836
U2	RP11.540O11.7	1.040088293	8.22E-05			
U2	ANXA6	2.073132363	8.30E-05	Calcium binding protein	BrainSpLMD|309	OMIM|114070
U2	PPP1R15B	1.038731893	8.42E-05	Regulatory/other subunit	BrainSpLMD|84919	OMIM|613257;HPO|84919|Abnormal vertebral morphology, Autosomal recessive inheritance, Brisk reflexes, Delayed puberty, Dysarthria, Fine hair, Gait ataxia, Hearing impairment, High pitched voice, Intellectual disability, severe, Intrauterine growth retardation, Kinetic tremor, Kyphoscoliosis, Microcephaly, Oligodontia, Pectus excavatum, Phenotypic variability, Recurrent hypoglycemia, Seizures, Short stature, Small for gestational age, Sparse hair, Spasticity
U2	MAP3K8	1.008710591	8.48E-05	Serine/threonine kinase	BrainSpLMD|1326	OMIM|191195;HPO|1326|Alveolar cell carcinoma, Autosomal recessive inheritance
U2	TBC1D23	0.509584276	8.53E-05	Unclassified	BrainSpLMD|55773	OMIM|617687
U2	CDKN2C	1.009131811	8.56E-05	Cell cycle control protein	BrainSpLMD|1031;Eurexp|euxassay_018845|ventricular layer	OMIM|603369;COSMIC||glioma, MM;HPO|1031|Adrenocortical adenoma, Angiofibromas, Diarrhea, Elevated circulating parathyroid hormone level, Episodic abdominal pain, Esophagitis, Fasting hyperinsulinemia, Growth hormone excess, Hypercalcemia, Hyperinsulinemic hypoglycemia, Hyperparathyroidism, Insulinoma, Parathyroid adenoma, Parathyroid hyperplasia, Peptic ulcer, Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary prolactin cell adenoma, Subcutaneous lipoma, Thyroid adenoma, Zollinger-Ellison syndrome
U2	SLC25A3	0.311093098	8.58E-05	Transport/cargo protein	BrainSpLMD|5250	OMIM|600370;HPO|5250|Abnormal mitochondrial shape, Abnormality of the mitochondrion, Autosomal recessive inheritance, Cyanosis, Failure to thrive, Hypertrophic cardiomyopathy, Increased serum lactate, Lactic acidosis, Low-output congestive heart failure, Metabolic acidosis, Muscular hypotonia, Myopathy, Respiratory insufficiency
U2	CDKN2D	1.073048364	8.59E-05	Cell cycle control protein	BrainSpLMD|1032;Eurexp|euxassay_006695|dorsal root ganglion, facial VII, glossopharyngeal IX, left, mantle layer, right, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|600927;HPO|1032|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus
U2	LIG1	0.722400937	8.75E-05	DNA ligase	BrainSpLMD|3978;Eurexp|euxassay_018504|marginal layer, thymus primordium, ventricular layer	OMIM|126391
U2	CHEK1	0.569122967	8.89E-05	Serine/threonine kinase	BrainSpLMD|1111	OMIM|603078
U2	ADAM9	0.996969168	8.90E-05	Metallo protease	BrainSpLMD|8754	OMIM|602713;HPO|8754|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal recessive inheritance, Cone/cone-rod dystrophy, Nyctalopia, Photophobia, Visual impairment
U2	PDCD5	0.254608385	9.03E-05	Unclassified	BrainSpLMD|9141	OMIM|604583
U2	ESYT1	1.999614363	9.03E-05	Calcium binding protein	BrainSpLMD|23344;Eurexp|euxassay_011456|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, meninges, neural retina, olfactory, skeletal muscle, thoracic, thymus primordium, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vomeronasal organ	OMIM|616670
U2	APP	0.587339952	9.04E-05	Cell surface receptor	BrainSpLMD|351;BrainSpMouseDev|11607	SFARI||Autism, No category;OMIM|104760;HPO|351|Alzheimer disease, Autosomal dominant inheritance, Behavioral abnormality, Cerebellar hemorrhage, Cerebral amyloid angiopathy, Cerebral calcification, Cerebral hemorrhage, Cerebral ischemia, Coma, Dementia, Dysphagia, Febrile seizures, Gait disturbance, Global developmental delay, Headache, Heterogeneous, Intellectual disability, Long-tract signs, Memory impairment, Migraine, Myoclonus, Neurofibrillary tangles, Paresthesia, Parkinsonism, Recurrent cerebral hemorrhage, Seizures, Sensory impairment, Stroke, Tortuous cerebral arteries
U2	DENR	0.513259114	9.06E-05	Unclassified	BrainSpLMD|8562	SFARI||Autism, 3 - Suggestive evidence;OMIM|604550
U2	CNTN4	1.284665092	9.15E-05	Adhesion molecule	BrainSpLMD|152330	SFARI||Autism, 2 - Strong candidate;OMIM|607280;HPO|152330|Atrioventricular canal defect, Brachycephaly, Cleft palate, Cognitive impairment, Cryptorchidism, Downturned corners of mouth, Epicanthus, Hearing impairment, High palate, Hypertelorism, Intrauterine growth retardation, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscular hypotonia, Postaxial hand polydactyly, Ptosis, Short stature, Telecanthus
U2	BTBD3	0.986379734	9.25E-05	Unclassified	BrainSpLMD|22903;Eurexp|euxassay_006662|adenohypophysis, anterior, axial skeleton, cartilaginous ring, cervical, cervico-thoracic, clavicle, diaphragm, epithelium, glossopharyngeal IX, lip, mantle layer, marginal layer, mesenchyme, oral epithelium, pectoralis major, pectoralis minor, phalanx, posterior, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|615566
U2	MANF	1.001942527	9.25E-05	Unclassified	BrainSpLMD|7873	OMIM|601916
U2	ANKRD44	0.630908093	9.30E-05	Unclassified	BrainSpLMD|91526	
U2	ENPP2	1.95489502	9.41E-05	Enzyme: Phosphodiesterase	BrainSpLMD|5168;Eurexp|euxassay_002856|4th ventricle, bladder, calyces, cartilaginous ring, choroid plexus, clavicle, ductus deferens, incisor, laryngeal, larynx, lateral recess, mesenchyme, molar, muscle, oral epithelium, penis, phalanx, skeletal muscle, trachea, ventral grey horn, ventricular layer, vibrissa	OMIM|601060
U2	RP11.887P2.3	0.670838647	9.48E-05			
U2	TMED3	0.394755	9.52E-05	Integral membrane protein	BrainSpLMD|23423;Eurexp|euxassay_003152|Meckel's cartilage, axial skeleton, basisphenoid bone, chondrocranium, clavicle, cranium, exoccipital bone, incisor, molar, nasal capsule, nasal septum, orbito-sphenoid, otic capsule, pancreas, rib, turbinate, turbinate bones;BrainSpMouseDev|41954	
U2	GINS3	1.00416567	9.59E-05	Unclassified	BrainSpLMD|64785	OMIM|610610
U2	HSPG2	0.978745264	9.65E-05	Extracellular matrix protein	BrainSpLMD|3339	OMIM|142461;HPO|3339|Abnormal vertebral ossification, Abnormality of epiphysis morphology, Abnormality of femoral epiphysis, Abnormality of pelvic girdle bone morphology, Abnormality of the abdominal wall, Abnormality of the eyebrow, Abnormality of the metaphysis, Abnormality of the pharynx, Anisospondyly, Anterior bowing of long bones, Arthrogryposis multiplex congenita, Atrial septal defect, Autosomal recessive inheritance, Blepharophimosis, Blue sclerae, Bowing of the long bones, Calvarial skull defect, Cataract, Cleft palate, Congenital hip dislocation, Coronal cleft vertebrae, Coxa valga, Coxa vara, Cryptorchidism, Decreased testicular size, Delayed skeletal maturation, Depressed nasal ridge, Disproportionate short-limb short stature, EMG abnormality, Elevated aldolase level, Elevated serum creatine phosphokinase, Everted lower lip vermilion, Flat face, Flexion contracture of toe, Full cheeks, Gait disturbance, Generalized hirsutism, Genu valgum, High palate, High pitched voice, Hip contracture, Hip dysplasia, Hyperlordosis, Hypertonia, Hyporeflexia, Inguinal hernia, Intellectual disability, Joint contracture of the hand, Joint stiffness, Kyphoscoliosis, Kyphosis, Long eyelashes in irregular rows, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Malar flattening, Malignant hyperthermia, Mask-like facies, Metaphyseal widening, Metatarsus valgus, Microcornea, Micrognathia, Micromelia, Muscle weakness, Myopathy, Myopia, Myotonia, Narrow chest, Narrow mouth, Neonatal death, Osteoporosis, Overfolded helix, Overgrowth, Pectus carinatum, Pes planus, Platyspondyly, Posteriorly rotated ears, Prominent nasal bridge, Ptosis, Pulmonary hypoplasia, Pursed lips, Respiratory insufficiency, Scoliosis, Short long bone, Short neck, Short stature, Shoulder flexion contracture, Skeletal dysplasia, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Spinal rigidity, Strabismus, Talipes equinovarus, Thoracic hypoplasia, Trismus, Umbilical hernia, Visual impairment, Weak voice, Wide nasal bridge, Wrist flexion contracture
U2	RAD54L	1.173747177	9.89E-05	DNA binding protein	BrainSpLMD|8438;Eurexp|euxassay_001626|cortex, incisor, marginal layer, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|603615;HPO|8438|Lymphoma
U2	FGD5.AS1	0.56455324	9.97E-05			
U2	AFF1	1.042224328	9.98E-05	Transcription factor	BrainSpLMD|4299	OMIM|159557;COSMIC||AL
U2	PCDHGC3	1.444126975	1.00E-04	Unclassified		OMIM|603627
U2	HSPD1P1	0.284907683	0.000100732			
U2	ABI3BP	2.500826358	0.00010103	Unclassified	BrainSpLMD|25890;Eurexp|euxassay_013992|mesenchyme, olfactory, stomach	OMIM|606279
U2	GOLGA8N	0.846268203	0.0001013			
U2	COL25A1	1.3562793	0.000101374	Extracellular matrix protein	BrainSpLMD|84570	OMIM|610004;HPO|84570|Abnormal vertebral segmentation and fusion, Anteverted nares, Autosomal recessive inheritance, Blepharophimosis, Congenital onset, Deeply set eye, Low posterior hairline, Oculomotor nerve palsy, Ptosis, Sensorineural hearing impairment, Short palpebral fissure, Strabismus
U2	RNU1.28P	0.717237592	0.000103448			
U2	RIOK2	0.68931982	0.000105874	Unclassified	BrainSpLMD|55781	OMIM|617754
U2	TWISTNB	0.501349651	0.000106048	Transcription factor	BrainSpLMD|221830	OMIM|608312
U2	TYW3	1.101873643	0.000107606	Unclassified	BrainSpLMD|127253	OMIM|611245
U2	CYTH3	0.687777044	0.000108104	Guanine nucleotide exchange factor	BrainSpLMD|9265	OMIM|605081
U2	RNF7	0.878910242	0.000109466	Enzyme: Ligase	BrainSpLMD|9616	OMIM|603863
U2	RP5.821D11.7	0.677242821	0.000109943			
U2	DRG1	0.397437759	0.000110854	Unclassified	BrainSpLMD|4733;Eurexp|euxassay_019652|adrenal gland, dorsal root ganglion, liver, metanephros, testis, thymus primordium, ventricular layer, vibrissa;BrainSpMouseDev|13273	OMIM|603952
U2	WDR53	1.612826104	0.000112497	Unclassified	BrainSpLMD|348793	OMIM|615110
U2	TOR1AIP1	0.735510945	0.000112751	Unclassified	BrainSpLMD|26092	OMIM|614512;HPO|26092|Ankle contracture, Autosomal recessive inheritance, Increased endomysial connective tissue, Slow progression, Spinal rigidity
U2	GAS2L3	0.365325098	0.000113555	Cytoskeletal protein	BrainSpLMD|283431	OMIM|617224
U2	SAP18	0.479882696	0.000116052	Transcription regulatory protein	BrainSpLMD|10284	OMIM|602949
U2	RGS5	0.802144409	0.000116326	GTPase activating protein	BrainSpLMD|8490;Eurexp|euxassay_005268|aorta, brain, ductus deferens, hindgut, lung, mesenchyme, metanephros, midgut, molar, olfactory, palatal shelf, pericardium, stomach, thymus primordium	OMIM|603276
U2	H2AFY	0.287757447	0.000116844	DNA binding protein	BrainSpLMD|9555	OMIM|610054
U2	CETN3	0.541008813	0.000117277	Calcium binding protein	BrainSpLMD|1070;Eurexp|euxassay_004982|4th ventricle, adenohypophysis, cervical, cervico-thoracic, clavicle, dorsal root ganglion, glossopharyngeal IX, inner ear, liver, lung, mantle layer, metanephros, naris, olfactory, orbito-sphenoid, pharyngo-tympanic tube, respiratory, retina, submandibular gland primordium, tail, thoracic, thymus primordium, thyroid, tongue, trigeminal V, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|602907
U2	CDC7	0.963976203	0.00011786	Cell cycle control protein	BrainSpLMD|8317;Eurexp|euxassay_012050|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|603311
U2	EFCAB11	0.340781704	0.00011864	Calcium binding protein	BrainSpLMD|90141	
U2	EMC9	0.274802816	0.000119121	Unclassified	BrainSpLMD|51016	
U2	DDX12P	0.92991041	0.000119622	-		OMIM|601151
U2	TMEM101	0.492142186	0.000119816	Unclassified	BrainSpLMD|84336	
U2	RECK	1.773507646	0.00011987	Cell cycle control protein	BrainSpLMD|8434	OMIM|605227
U2	RP11.466P24.2	0.775575123	0.00012014			
U2	TMEM107	1.279038214	0.000120861	Unclassified	BrainSpLMD|84314;Eurexp|euxassay_005337|choroid plexus, lateral recess, olfactory, pharynx, respiratory	OMIM|616183;HPO|84314|Aplasia/Hypoplasia of the iris, Cataract, Chorioretinal abnormality, Cleft palate, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Encephalocele, Full cheeks, Hypertelorism, Lobar holoprosencephaly, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Oligohydramnios, Optic atrophy, Postaxial foot polydactyly, Postaxial hand polydactyly, Sclerocornea, Sloping forehead, Talipes
U2	NDUFC1	0.414969887	0.000121296	Unclassified	BrainSpLMD|4717	OMIM|603844
U2	FBXL7	0.429259022	0.00012374	Ubiquitin proteasome system protein	BrainSpLMD|23194	OMIM|605656
U2	TMEM126A	0.424005185	0.000124084	Unclassified	BrainSpLMD|84233	OMIM|612988;HPO|84233|Autosomal recessive inheritance, Central scotoma, Constriction of peripheral visual field, Dyschromatopsia, Optic atrophy, Optic disc pallor, Reduced visual acuity, Variable expressivity, Visual impairment
U2	RHOBTB3	0.566552215	0.000126012	GTPase	BrainSpLMD|22836;Eurexp|euxassay_004272|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|607353
U2	WDHD1	1.282284183	0.000126239	DNA binding protein	BrainSpLMD|11169;Eurexp|euxassay_012406|submandibular gland primordium, thymus primordium, ventricular layer;BrainSpMouseDev|85441	OMIM|608126
U2	INO80	0.354882379	0.000126957	DNA binding protein	BrainSpLMD|54617	OMIM|610169
U2	RAB31	0.352407618	0.000128227	GTPase	BrainSpLMD|11031;Eurexp|euxassay_003248|axial muscle, basal plate, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, submandibular gland primordium, thoracic, trigeminal V, vagus X, vibrissa	OMIM|605694
U2	MAFB	0.601780036	0.000128559	Transcription regulatory protein	BrainSpLMD|9935;Eurexp|euxassay_019539|dorsal root ganglion, glossopharyngeal IX, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lung, mantle layer, metanephros, neural retina, pancreas, trigeminal V, urethra, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16430	OMIM|608968;COSMIC||MM;HPO|9935|Abnormal vertebral segmentation and fusion, Ankle swelling, Anteverted nares, Arthralgia, Autosomal dominant inheritance, Blepharophimosis, Cachexia, Camptodactyly of finger, Carpal osteolysis, Deeply set eye, EMG abnormality, Gait disturbance, Hypertension, Hypoplasia of the maxilla, Impaired ocular abduction, Impaired ocular adduction, Limitation of joint mobility, Low posterior hairline, Metacarpal osteolysis, Metatarsal osteolysis, Micrognathia, Nephropathy, Oculomotor nerve palsy, Osteolysis involving tarsal bones, Osteopenia, Pes cavus, Proptosis, Proteinuria, Renal insufficiency, Sensorineural hearing impairment, Short palpebral fissure, Slender long bone, Strabismus, Triangular face, Ulnar deviation of the hand, Wrist swelling
U2	FIGNL1	1.423167873	0.000132769	Unclassified	BrainSpLMD|63979;Eurexp|euxassay_004690|ventricular layer	OMIM|615383
U2	HMBS	0.595804507	0.000133227	Enzyme: Synthase	BrainSpLMD|3145;Eurexp|euxassay_002165|lobe	OMIM|609806;HPO|3145|Abdominal pain, Abnormal urinary color, Acute episodes of neuropathic symptoms, Anorexia, Anxiety, Arrhythmia, Autosomal dominant inheritance, Constipation, Depressivity, Diarrhea, Dysuria, Elevated urinary delta-aminolevulinic acid, Hepatocellular carcinoma, Hyperhidrosis, Hypertension, Hypertensive crisis, Insomnia, Muscle weakness, Myalgia, Nausea, Nausea and vomiting, Paralytic ileus, Paresthesia, Psychotic episodes, Respiratory paralysis, Seizures, Tachycardia, Urinary incontinence, Urinary retention, Vomiting
U2	RP11.274E7.2	0.508734795	0.000134323			
U2	MPPE1	1.041138089	0.000134676	Enzyme: Esterase	BrainSpLMD|65258	OMIM|611900
U2	SPICE1	1.049593821	0.000136066	Unclassified	BrainSpLMD|152185;Eurexp|euxassay_006294|adenohypophysis, neurohypophysis, olfactory, respiratory, testis, thymus primordium, ventricular layer	OMIM|613447
U2	TMF1	0.660767195	0.00013635	Transcription factor	BrainSpLMD|7110;Eurexp|euxassay_016101|mandible, maxilla	OMIM|601126
U2	ANKRD42	1.401531859	0.000136441	Unclassified	BrainSpLMD|338699	
U2	BAG2	1.896282381	0.000138702	Adapter molecule	BrainSpLMD|9532	OMIM|603882
U2	RBBP8	1.196327835	0.000139226	Transcription regulatory protein	BrainSpLMD|5932	OMIM|604124;HPO|5932|4-5 toe syndactyly, Abnormality of dental enamel, Absent earlobe, Absent fourth finger distal interphalangeal crease, Aggressive behavior, Autosomal recessive inheritance, Cachexia, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital microcephaly, Convex nasal ridge, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Few cafe-au-lait spots, Glaucoma, Growth delay, Hallux valgus, Heart murmur, Hip dysplasia, Hypospadias, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Microdontia, Microglossia, Micrognathia, Microphthalmia, Mild global developmental delay, Narrow face, Narrow forehead, Prematurely aged appearance, Prominent nose, Reduced number of teeth, Retrognathia, Sandal gap, Short middle phalanx of the 5th finger, Short stature, Single interphalangeal crease of fifth finger, Small for gestational age, Sparse scalp hair, Thoracic scoliosis
U2	RBMXP2	0.571477245	0.000141259			
U2	GAB1	0.676422534	0.000142498	Adapter molecule	BrainSpLMD|2549	OMIM|604439
U2	POT1	1.205511361	0.000142991	DNA binding protein	BrainSpLMD|25913;Eurexp|euxassay_000324|basisphenoid bone, otic capsule, telencephalon, ventricular layer	SFARI||Autism, No category;OMIM|606478;COSMIC||CLL;HPO|25913|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus
U2	ZNF503	0.878108268	0.000143771	Unclassified	BrainSpLMD|84858	OMIM|613902
U2	MYL6B	0.303922504	0.000144329	Structural protein	BrainSpLMD|140465;Eurexp|euxassay_005932|brain, diaphragm, mesenchyme, paraxial mesenchyme, skeletal muscle, spinal cord, vertebral axis muscle system	OMIM|609930
U2	UBXN8	2.345813634	0.000145688	Unclassified	BrainSpLMD|7993	OMIM|602155
U2	CACYBP	0.327385035	0.000145903	Ubiquitin proteasome system protein	BrainSpLMD|27101;Eurexp|euxassay_006213|brain, cervical, cervico-thoracic, cortex, diencephalon, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, left, mandible, maxilla, midbrain, molar, olfactory, orbito-sphenoid, right, spinal cord, submandibular gland primordium, telencephalon, thoracic, thymus primordium, trigeminal V, vertebral axis muscle system, vibrissa	OMIM|606186
U2	RARS2	0.518876697	0.000146933	Enzyme: Synthase	BrainSpLMD|57038;Eurexp|euxassay_012458|pituitary, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|611524;HPO|57038|Absent speech, Apnea, Atrophy/Degeneration affecting the brainstem, Autosomal recessive inheritance, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy, Congenital onset, Death in childhood, Deeply set eye, Failure to thrive, Generalized hypotonia, Global developmental delay, Hyperreflexia, Increased CSF lactate, Increased serum lactate, Lower limb spasticity, Narrow forehead, Narrow palate, Poor head control, Poor suck, Progressive, Progressive microcephaly, Prominent nasal bridge, Seizures, Upper limb spasticity, Variable expressivity
U2	SEC24A	0.533690945	0.00014738	Transport/cargo protein	BrainSpLMD|10802	OMIM|607183
U2	ARL16	0.388925929	0.00015047	GTPase		
U2	MFSD11	0.813109288	0.000151157	Integral membrane protein	BrainSpLMD|79157	
U2	HAUS3	0.487493854	0.00015145	Unclassified	BrainSpLMD|79441;Eurexp|euxassay_001476|cervical, cervico-thoracic, cortex, thoracic, thymus primordium, ventricular layer	OMIM|613430
U2	OSTF1	0.701111208	0.000152922	Adapter molecule	BrainSpLMD|26578;BrainSpMouseDev|20172	OMIM|610180
U2	TXNDC17	0.668319473	0.000153022	Enzyme: Oxidoreductase	BrainSpLMD|84817	OMIM|616967
U2	SCFD1	0.555706354	0.000154661	Membrane transport protein	BrainSpLMD|23256;Eurexp|euxassay_014266|vertebral axis muscle system	
U2	SH3D19	1.773976773	0.000156147	Unclassified	Eurexp|euxassay_012615|choroid plexus, hindgut, metanephros, midgut, olfactory, stomach	OMIM|608674
U2	DDX39A	0.904352392	0.000156611	RNA helicase	BrainSpLMD|10212	
U2	SMCHD1	0.371364382	0.000156665	Unclassified	BrainSpLMD|23347;Eurexp|euxassay_008416|embryo	OMIM|614982;HPO|23347|Abdominal wall muscle weakness, Abnormality of the eyelashes, Abnormality of the midface, Abnormality of the retinal vasculature, Absent nares, Amblyopia, Anophthalmia, Anosmia, Aplasia of the nose, Autosomal dominant inheritance, Beevor's sign, Blindness, Cataract, Choanal atresia, Cleft palate, Coloboma, Cryptorchidism, Digenic inheritance, EMG abnormality, Elevated serum creatine phosphokinase, Facial palsy, Failure of eruption of permanent teeth, Foot dorsiflexor weakness, Gynecomastia, High palate, Hyperlordosis, Hypertelorism, Hypogonadism, Hypoplasia of penis, Hypoplasia of the olfactory bulb, Hyposmia, Inguinal hernia, Iris coloboma, Mask-like facies, Micropenis, Microphthalmia, Midface retrusion, Misalignment of teeth, Palpebral edema, Pelvic girdle muscle weakness, Primary amenorrhea, Scapulohumeral muscular dystrophy, Sensorineural hearing impairment, Single naris, Skeletal muscle atrophy, Visual loss
U2	DNAJC21	0.876704584	0.000157735	DNA binding protein	BrainSpLMD|134218	OMIM|617048;HPO|134218|Abnormality of skin pigmentation, Abnormality of the metaphysis, Anemia, Autosomal recessive inheritance, Bone marrow hypocellularity, Delayed skeletal maturation, Eczema, Exocrine pancreatic insufficiency, Failure to thrive, Generalized hypotonia, Global developmental delay, Hyperkeratosis, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Malabsorption, Neutropenia, Osteopenia, Pancytopenia, Recurrent infections, Short stature, Thrombocytopenia
U2	RPS9	0.284294417	0.000158674	Ribosomal subunit		OMIM|603631
U2	SNHG12	0.738219057	0.000159146	Unclassified		
U2	HAT1	0.466242978	0.000159182	Enzyme: Acyltransferase	BrainSpLMD|8520;Eurexp|euxassay_015562|brain, cerebral cortex, diencephalon, forebrain, hindbrain, liver, lung, medullary region, midbrain, optic II, optic stalk, telencephalon, testis, thymus primordium	OMIM|603053
U2	FAM118A	1.152862305	0.000159378	Unclassified	BrainSpLMD|55007;Eurexp|euxassay_004603|marginal layer	
U2	NUP98	0.575263724	0.000160087	Transport/cargo protein	BrainSpLMD|4928	OMIM|601021;COSMIC||AML
U2	NRBF2	1.192078754	0.000161455	Transcription regulatory protein	BrainSpLMD|29982	OMIM|616477
U2	PPIH	1.21133643	0.00016281	Chaperone	BrainSpLMD|10465;Eurexp|euxassay_008211|embryo	OMIM|606095
U2	INTS6	0.861312982	0.000168784	RNA binding protein	BrainSpLMD|26512	SFARI||Autism, 2 - Strong candidate;OMIM|604331
U2	SEC22C	0.926533422	0.00017172	Integral membrane protein	BrainSpLMD|9117	OMIM|604028
U2	RPS2P55	0.31274468	0.000173358			
U2	MMS22L	0.560398715	0.000177247	Unclassified	BrainSpLMD|253714	OMIM|615614
U2	TPR	0.390152158	0.000185596	Unclassified	BrainSpLMD|7175;Eurexp|euxassay_012642|cortex, incisor, lobe, molar, olfactory, testis, thymus primordium, ventricular layer, vibrissa	OMIM|189940;COSMIC||papillary thyroid, NSCLC
U2	POFUT1	1.710459247	0.000188894	Enzyme: Transferase	BrainSpLMD|23509;BrainSpMouseDev|79897	OMIM|607491;HPO|23509|Autosomal dominant inheritance, Follicular hyperkeratosis, Hypomelanotic macule, Reticular hyperpigmentation
U2	VDAC1P1	0.509871704	0.000189263			
U2	C14orf1	0.620953552	0.000192412			
U2	LATS2	1.184647003	0.000193396	Serine/threonine kinase	BrainSpLMD|26524	OMIM|604861
U2	COX4I1	0.300164606	0.000193399	Enzyme: Oxidoreductase	BrainSpLMD|1327	OMIM|123864
U2	SNHG6	0.296680295	0.0001942			OMIM|612215
U2	SNORD99	0.406189922	0.000195945			
U2	SCAMP4	1.715633374	0.00020011	Membrane transport protein	BrainSpLMD|113178;Eurexp|euxassay_001695|orbito-sphenoid	OMIM|613764
U2	RP11.139K1.2	0.343205155	0.000200162			
U2	PRDM5	0.647628309	0.000202231	Transcription factor	BrainSpLMD|11107;BrainSpMouseDev|46620	OMIM|614161;HPO|11107|Abnormality of hair pigmentation, Autosomal recessive inheritance, Blue sclerae, Bruising susceptibility, Conductive hearing impairment, Corneal dystrophy, Corneal scarring, Gait disturbance, Hearing impairment, Hyperextensible skin, Joint hyperflexibility, Keratoconus, Keratoglobus, Myalgia, Myopia, Osteoporosis, Sensorineural hearing impairment, Severe Myopia, Soft skin, Visual loss
U2	ST7.OT4	1.4816939	0.000202715			
U2	TBCCD1	0.621617519	0.000202914	Unclassified	BrainSpLMD|55171;Eurexp|euxassay_010772|liver, pancreas	
U2	SUMO3	0.366967824	0.000202967	Ubiquitin proteasome system protein	BrainSpLMD|6612	OMIM|602231
U2	ANKRD28	0.730973844	0.000205683	Unclassified	BrainSpLMD|23243	OMIM|611122
U2	SNX5	0.562445293	0.000208571	Transport/cargo protein	BrainSpLMD|27131;Eurexp|euxassay_011463|clavicle, cortex, epithelium, exoccipital bone, floor plate, fundus region, hindgut, incisor, lobe, lung, mandible, marginal layer, maxilla, midgut, molar, naris, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, roof, stomach, submandibular gland primordium, temporal bone, thymus primordium, thyroid, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|605937
U2	SEC22B	0.707022739	0.000210357	Integral membrane protein	BrainSpLMD|9554	OMIM|604029
U2	FAM53C	0.911731922	0.00021246	Unclassified	BrainSpLMD|51307	OMIM|609372
U2	NIT1	0.974871298	0.000213709	Unclassified	BrainSpLMD|4817	OMIM|604618
U2	HAX1	0.512942817	0.000214083	Unclassified	BrainSpLMD|10456	OMIM|605998;HPO|10456|Autosomal recessive inheritance, Infantile onset, Leukemia, Myelodysplasia, Neutropenia, Recurrent bacterial infections
U2	TAF13	0.3702946	0.000216041	Transcription factor	BrainSpLMD|6884;Eurexp|euxassay_001598|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, submandibular gland primordium, trigeminal V, vagus X;BrainSpMouseDev|63900	OMIM|600774;HPO|6884|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Delayed puberty, Delayed skeletal maturation, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Small for gestational age, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vesicoureteral reflux
U2	GTF2H2	1.011256771	0.000219956	Transcription factor	Eurexp|euxassay_019537|incisor, liver, lung, metanephros, midgut, pancreas, submandibular gland primordium, thymus primordium, vibrissa	OMIM|601748
U2	ATP1A1	0.608622581	0.000220519	ATPase	BrainSpLMD|476;BrainSpMouseDev|11714	OMIM|182310;COSMIC||adrenal aldosterone producing adenoma
U2	C3orf58	0.731555888	0.000229212	Unclassified	BrainSpLMD|205428	SFARI||Autism, 4 - Minimal evidence;OMIM|612200
U2	ZNF70	0.936792183	0.000229662	Unclassified	BrainSpLMD|7621	OMIM|194544
U2	CTC.260E6.6	1.178363576	0.000232591			
U2	CNIH4	0.479298922	0.000232672	Unclassified	BrainSpLMD|29097	OMIM|617483
U2	RPL23A	0.568302265	0.000234567	RNA binding protein		OMIM|602326
U2	MGMT	0.898841459	0.000234618	DNA repair protein	BrainSpLMD|4255	OMIM|156569;HPO|4255|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus
U2	MTAP	0.92152343	0.000237596	Enzyme: Phosphorylase	BrainSpLMD|4507;Eurexp|euxassay_003372|axial muscle, cranium, incisor, mantle layer, marginal layer, orbito-sphenoid, submandibular gland primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|156540
U2	HSCB	0.788697346	0.000237685	Chaperone	BrainSpLMD|150274	OMIM|608142
U2	LINC00339	0.759542467	0.000241617		BrainSpLMD|29092	
U2	MRPL37	0.986881345	0.000243906	Ribosomal subunit	BrainSpLMD|51253	OMIM|611843
U2	SNX17	0.762173655	0.000245193	Adapter molecule	BrainSpLMD|9784	OMIM|605963
U2	DDIAS	0.930469184	0.000245219	Unclassified	BrainSpLMD|220042	
U2	PSMD8	0.637441172	0.000247261	Ubiquitin proteasome system protein	BrainSpLMD|5714;Eurexp|euxassay_006093|epidermis, naris, nose, urethra, vibrissa	
U2	SNORD3A	0.716290663	0.000250807			OMIM|180710
U2	PDLIM5	0.542078497	0.000252849	Adapter molecule	BrainSpLMD|10611;Eurexp|euxassay_011640|alar columns, axial skeleton, bladder, choroid plexus, clavicle, dorsal grey horn, floor plate, floorplate, mesenchyme, metanephros, midgut, oesophagus, stomach, submandibular gland primordium, trachea, urethra, ventral grey horn, ventricular layer	OMIM|605904
U2	PGK1	0.768669667	0.000253849	Enzyme: Phosphotransferase	BrainSpLMD|5230;Eurexp|euxassay_018885|cerebral cortex, clavicle, diaphragm, dorsal root ganglion, facial VII, heart, incisor, lung, mandible, mantle layer, marginal layer, mesenchyme, metanephros, nasal cavity, nasal septum, nucleus pulposus, peripheral nervous system, physiological umbilical hernia, renal/urinary system, salivary gland, stomach, submandibular gland primordium, thymus primordium, tooth, trigeminal V, turbinate bones, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|311800;HPO|5230|Ataxia, Delayed speech and language development, Emotional lability, Exercise intolerance, Exercise-induced muscle cramps, Exercise-induced myoglobinuria, Intellectual disability, Migraine, Phenotypic variability, Reticulocytosis, Rhabdomyolysis, Seizures, X-linked recessive inheritance
U2	BHLHE40	2.72919673	0.000258317	Transcription factor	BrainSpLMD|8553;BrainSpMouseDev|20655	OMIM|604256
U2	DLEU2	0.724834748	0.000259584	Unclassified	BrainSpLMD|8847	OMIM|605766
U2	TMED9	0.838317889	0.000260363	Unclassified		
U2	SRSF1	0.85936877	0.000263212	RNA binding protein	BrainSpLMD|6426	OMIM|600812
U2	RPS2P46	0.380893551	0.00026824			
U2	ECH1	0.348648985	0.000268707	Enzyme: Hydratase	BrainSpLMD|1891	OMIM|600696
U2	RNU6.118P	0.914270074	0.000278569			
U2	TMEM167A	0.566960012	0.000278773	Integral membrane protein	BrainSpLMD|153339	
U2	NAALAD2	0.975069006	0.000279933	Enzyme: Hydrolase	BrainSpLMD|10003	OMIM|611636
U2	PRPS2	1.032933238	0.000281977	Enzyme: Ligase	BrainSpLMD|5634	OMIM|311860
U2	PSMD14	0.705115305	0.000282388	Ubiquitin proteasome system protein	BrainSpLMD|10213	OMIM|607173
U2	RPL41	0.364505438	0.000283289	Unclassified	BrainSpLMD|6171	OMIM|613315
U2	REEP3	0.561683275	0.000283542	Unclassified	BrainSpLMD|221035;Eurexp|euxassay_004457|digit 1, digit 2, digit 3, digit 4, digit 5, footplate, handplate, lower leg, trigeminal V, valve, ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|609348
U2	NBPF1	0.419559794	0.000289001	Unclassified		OMIM|610501
U2	ATG101	1.402425455	0.000290088	Unclassified	BrainSpLMD|60673;Eurexp|euxassay_005722|adrenal gland	OMIM|615089
U2	TOR1AIP2	0.388024484	0.00029234	Unclassified	BrainSpLMD|163590	OMIM|614513
U2	RPL21P75	0.341189803	0.00029317			
U2	CCT7	0.371327526	0.000294045	Chaperone	BrainSpLMD|10574	OMIM|605140
U2	ATP6AP2	0.727318345	0.00029418	Cell surface receptor	BrainSpLMD|10159	OMIM|300556;HPO|10159|Action tremor, Agraphesthesia, Astereognosia, Autosomal recessive inheritance, Babinski sign, Bradykinesia, Cerebellar atrophy, Cerebral atrophy, Cogwheel rigidity, Delayed speech and language development, Gait disturbance, Generalized tonic-clonic seizures, Hypomimic face, Hypoplasia of the corpus callosum, Hyporeflexia, Infantile onset, Intellectual disability, Motor delay, Parkinsonism, Resting tremor, Slow progression, Variable expressivity, X-linked recessive inheritance
U2	ZFAS1	0.346279144	0.000295973			
U2	HSPA2	1.747929125	0.000304413	Heat shock protein	BrainSpLMD|3306;Eurexp|euxassay_003311|basal plate, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, pancreas, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|140560
U2	LRRC17	1.582874874	0.000304768	Unclassified	BrainSpLMD|10234	
U2	SNAP23	0.323368048	0.000304842	Transport/cargo protein	BrainSpLMD|8773;Eurexp|euxassay_005991|embryo	OMIM|602534
U2	MTFR2	0.572305842	0.000305488	Unclassified	BrainSpLMD|113115	
U2	EMC2	0.603545611	0.000305817	Unclassified	BrainSpLMD|9694	OMIM|607722
U2	BRMS1L	0.829564872	0.00030613	Translation regulatory protein	BrainSpLMD|84312	
U2	7-Mar	0.448754682	0.000308461			
U2	FNTB	0.863873172	0.000308473	Enzyme: Prenyltransferase;Unclassified	BrainSpLMD|2342	OMIM|134636
U2	TUSC3	0.91752328	0.000311391	Integral membrane protein	BrainSpLMD|7991;Eurexp|euxassay_012104|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, peripheral nervous system, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|601385;HPO|7991|Autosomal recessive inheritance, Intellectual disability
U2	CASC4	0.654372172	0.000315231	Unclassified	BrainSpLMD|113201	SFARI||Autism, 4 - Minimal evidence
U2	ING2	1.423820011	0.000315988	Cell cycle control protein	BrainSpLMD|3622	OMIM|604215
U2	PDCD6	0.361592829	0.000330619	Calcium binding protein		OMIM|601057
U2	POLR2E	0.772643794	0.000335991	RNA polymerase	BrainSpLMD|5434;Eurexp|euxassay_011641|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|180664
U2	VDAC1	0.593198954	0.000336646	Voltage gated channel	BrainSpLMD|7416	OMIM|604492
U2	SLC35B3	0.871039543	0.000339889	Membrane transport protein	BrainSpLMD|51000	OMIM|610845
U2	UBXN11	0.600882765	0.000340615	Adapter molecule	BrainSpLMD|91544	OMIM|609151
U2	PCYOX1	0.341068299	0.000342831	Enzyme: Oxidase	BrainSpLMD|51449;Eurexp|euxassay_012457|dorsal root ganglion, floor plate, floorplate, glossopharyngeal IX, mantle layer, pituitary, trigeminal V, ventral grey horn, vibrissa	OMIM|610995
U2	KIRREL	1.010431791	0.000348496			
U2	RASL11B	0.299428281	0.000351863	Unclassified	BrainSpLMD|65997;Eurexp|euxassay_009650|cochlea, lens, lung, mesenchyme, nasal septum, pelvic girdle, saccule, skeletal muscle, turbinate bones, vibrissa	OMIM|612404
U2	DSN1	0.643097053	0.000352597	Unclassified	BrainSpLMD|79980;Eurexp|euxassay_001983|ventricular layer	OMIM|609175
U2	ANKRD52	0.792881108	0.000357144	Unclassified	BrainSpLMD|283373	
U2	RBM14	0.33044369	0.000357711	RNA binding protein	BrainSpLMD|10432	OMIM|612409
U2	NUP35	0.770435406	0.000357883	Transport/cargo protein	BrainSpLMD|129401	OMIM|608140
U2	GALM	1.076956616	0.000358399	Enzyme: Epimerase	BrainSpLMD|130589;Eurexp|euxassay_000580|olfactory	OMIM|137030
U2	PTGR1	1.02554233	0.000362112	Enzyme: Dehydrogenase	BrainSpLMD|22949	OMIM|601274
U2	NUDT1	0.479764761	0.000362903	Enzyme: Hydrolase	BrainSpLMD|4521	OMIM|600312
U2	PSMB6	0.336376233	0.000366507	Ubiquitin proteasome system protein	BrainSpLMD|5694	OMIM|600307
U2	ATAD1	0.64460132	0.00036871	ATPase	BrainSpLMD|84896;Eurexp|euxassay_001713|brain, cervico-thoracic, cortex, dorsal root ganglion, glossopharyngeal IX, spinal cord, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614452
U2	PSMB1	0.314701343	0.000370136	Ubiquitin proteasome system protein	BrainSpLMD|5689;Eurexp|euxassay_000097|cerebral cortex, dorsal root ganglion, integumental system, midbrain, nose, retina, rib, trigeminal V, vagus X	OMIM|602017
U2	C19orf10	1.017672793	0.000373317			
U2	ISYNA1	0.299527564	0.000376223	Enzyme: Isomerase	BrainSpLMD|51477	OMIM|611670
U2	HNRNPA1P10	0.350297645	0.000380413			
U2	ALDH6A1	0.374271131	0.000382423	Enzyme: Dehydrogenase	BrainSpLMD|4329;Eurexp|euxassay_018815|choroid invagination, naris, nasal septum, otic capsule, turbinate bones, ventricular layer	OMIM|603178;HPO|4329|Abnormal facial shape, Autosomal recessive inheritance, Bulbous nose, Cataract, Delayed myelination, Depressed nasal bridge, Downslanted palpebral fissures, Dystonia, Epicanthus, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Long philtrum, Metabolic acidosis, Microcephaly, Microphthalmia, Muscular hypotonia, Phenotypic variability, Short nose, Tented upper lip vermilion
U2	SNORD11	0.527420768	0.00038492			
U2	PGRMC1	0.256789631	0.000385293	Cell surface receptor	BrainSpLMD|10857;Eurexp|euxassay_018260|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X	OMIM|300435
U2	PRDM11	1.16738718	0.000389758	Transcription factor	BrainSpLMD|56981	OMIM|616347
U2	TENC1	0.407703602	0.000391655			
U2	SLC39A9	0.294448537	0.000394523	Membrane transport protein	BrainSpLMD|55334	
U2	RAC1	0.312874937	0.000402844	GTPase	BrainSpLMD|5879;BrainSpMouseDev|19116	OMIM|602048;COSMIC||melanoma, carcinoma
U2	UNC5C	1.198178587	0.000403904	Cell surface receptor	BrainSpLMD|8633;Eurexp|euxassay_011939|axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, footplate, left lung, lip, mantle layer, marginal layer, metanephros, naris, nasal septum, orbito-sphenoid, pelvic girdle, petrous part, rib, right lung, tibia, turbinate bones, vault of skull, ventral grey horn;BrainSpMouseDev|22010	OMIM|603610
U2	ASCC3	0.842385913	0.000404518	Unclassified	BrainSpLMD|10973	OMIM|614217
U2	PPWD1	0.956690498	0.000406839	Unclassified	BrainSpLMD|23398	
U2	DPCD	0.599875388	0.000408192	Unclassified	BrainSpLMD|25911	OMIM|616467
U2	COPS3	0.361008641	0.000411831	Transcription regulatory protein	BrainSpLMD|8533	OMIM|604665
U2	CEP135	0.397724357	0.000415493	Unclassified	BrainSpLMD|9662	SFARI||Autism, 3 - Suggestive evidence;OMIM|611423;HPO|9662|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Congenital onset, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, severe, Microcephaly, Pachygyria, Retrognathia, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
U2	APOBEC3C	0.626793773	0.000416299	Enzyme: Deaminase	BrainSpLMD|27350	OMIM|607750
U2	SEL1L	0.302066423	0.000418883	Integral membrane protein	BrainSpLMD|6400;BrainSpMouseDev|20101	OMIM|602329
U2	LDB2	0.836407942	0.000419768	Transcription regulatory protein	BrainSpLMD|9079;BrainSpMouseDev|16597	OMIM|603450
U2	RFC2	1.215627633	0.000419834	DNA binding protein	BrainSpLMD|5982	OMIM|600404;HPO|5982|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the neck, Anxiety, Arthralgia, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad forehead, Cerebral ischemia, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Dental malocclusion, Depressivity, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Epicanthus, Everted lower lip vermilion, Failure to thrive in infancy, Gait imbalance, Genu valgum, Hallux valgus, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Inguinal hernia, Insomnia, Intellectual disability, Joint stiffness, Kyphosis, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Microcephaly, Microdontia, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Open bite, Overfriendliness, Pelvic kidney, Periorbital edema, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Proteinuria, Protruding ear, Pulmonic stenosis, Redundant skin, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Visual impairment, Wide mouth, Wide nasal bridge
U2	MPZL1	0.809299246	0.000421848	Unclassified	BrainSpLMD|9019	OMIM|604376
U2	PSMA4	0.384005663	0.00042259	Ubiquitin proteasome system protein	BrainSpLMD|5685	OMIM|176846
U2	PPA2	0.763145362	0.00042291	Enzyme: Phosphatase	BrainSpLMD|27068	OMIM|609988;HPO|27068|Autosomal recessive inheritance, Bradycardia, Congestive heart failure, Myocardial fibrosis, Myocarditis
U2	LETM2	0.912037389	0.000434682	Unclassified	BrainSpLMD|137994	
U2	GSTO1	0.361484263	0.0004405	Enzyme: Glutathione transferase	BrainSpLMD|9446;Eurexp|euxassay_018672|midgut, oesophagus, stomach	OMIM|605482
U2	SPAG7	0.696703723	0.000448427	Unclassified	BrainSpLMD|9552	OMIM|610056
U2	GSS	0.786107316	0.000450315	Enzyme: Ligase	BrainSpLMD|2937;Eurexp|euxassay_018670|lens, liver	OMIM|601002;HPO|2937|Ataxia, Autosomal recessive inheritance, Chronic metabolic acidosis, Dysarthria, Glutathione synthetase deficiency, Glyoxalase deficiency, Hemolytic anemia, Intellectual disability, Intention tremor, Neutropenia, Pigmentary retinopathy, Psychotic mentation, Seizures, Spastic tetraparesis
U2	NUP54	0.36937471	0.00045508	Transport/cargo protein	BrainSpLMD|53371	OMIM|607607
U2	SKP1P1	0.407822804	0.000463882			
U2	RPS15	0.26765599	0.00046993	Ribosomal subunit	BrainSpLMD|6209;Eurexp|euxassay_006826|embryo	OMIM|180535
U2	LRRCC1	0.391391596	0.000474326	Unclassified	BrainSpLMD|85444;Eurexp|euxassay_007263|Meckel's cartilage, aortic valve, basisphenoid bone, exoccipital bone, mitral valve, orbito-sphenoid, skeletal muscle, temporal bone, tricuspid valve, turbinate bones, vault of skull	OMIM|617791
U2	PNP	2.584876193	0.000476058	Enzyme: Phosphorylase	BrainSpLMD|4860;Eurexp|euxassay_003605|anterior, cortex, left, retina, right, thymus primordium, thyroid, vibrissa	OMIM|164050;HPO|4860|Abnormality of B cell physiology, Ataxia, Autoimmune hemolytic anemia, Autoimmune neutropenia, Autoimmune thrombocytopenia, Autosomal recessive inheritance, Behavioral abnormality, Cerebral vasculitis, Failure to thrive, Generalized hypotonia, Hypouricemia, Impaired T cell function, Intellectual disability, Lymph node hypoplasia, Lymphoma, Lymphopenia, Motor delay, Otitis media, Pneumonia, Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent urinary tract infections, Recurrent viral infections, Sinusitis, Spastic diplegia, Splenomegaly, Tetraparesis, Tremor
U2	NAE1	0.458654863	0.000476889	Adapter molecule	BrainSpLMD|8883	OMIM|603385
U2	RFC5	0.550820687	0.000490355	DNA binding protein	BrainSpLMD|5985	OMIM|600407
U2	FAM133CP	1.661519268	0.000493063			
U2	CPVL	0.719523378	0.000496376	Carboxypeptidase	BrainSpLMD|54504	OMIM|609780
U2	BCAP31	0.388285246	0.000497176	Transport/cargo protein	BrainSpLMD|10134	OMIM|300398;HPO|10134|Abnormal facial shape, Abnormal pyramidal signs, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Cerebral hypomyelination, Dystonia, Failure to thrive, Global developmental delay, Intellectual disability, Intellectual disability, severe, Microcephaly, Sensorineural hearing impairment, Strabismus, Tetraplegia, X-linked recessive inheritance
U2	SFR1	0.441344903	0.000504086	Unclassified	BrainSpLMD|119392;Eurexp|euxassay_002043|ventricular layer	OMIM|616527
U2	NRBP1	0.940043122	0.00050539	Adapter molecule	BrainSpLMD|29959	OMIM|606010
U2	ZNF83	0.520509844	0.000506129	DNA binding protein	BrainSpLMD|55769	OMIM|194558
U2	COL4A5	0.505219451	0.000506182	Extracellular matrix protein	BrainSpLMD|1287;Eurexp|euxassay_015894|bladder, ductus deferens, floorplate, lens, lung, meninges, stomach, sublingual gland primordium, submandibular gland primordium, thyroid, umbilical artery, umbilical vein, urethra, ventricular layer;BrainSpMouseDev|12613	OMIM|303630;HPO|1287|Anterior lenticonus, Congenital cataract, Corneal erosion, Diffuse glomerular basement membrane lamellation, Diffuse leiomyomatosis, Heterogeneous, Hypertension, Hypoparathyroidism, Ichthyosis, Microscopic hematuria, Myopia, Nephritis, Nephrotic syndrome, Progressive, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidney disease, Thickening of the glomerular basement membrane, Thrombocytopenia, X-linked dominant inheritance
U2	PSME2P2	0.479861097	0.000513946			
U2	LRR1	0.650855029	0.000514148	Unclassified	BrainSpLMD|122769	OMIM|609193
U2	BDH2	1.800750471	0.000517139	Enzyme: Oxidoreductase	BrainSpLMD|56898	
U2	CEP44	1.172069121	0.000518935	Unclassified	BrainSpLMD|80817	
U2	NDEL1	0.641944462	0.000525704	Cell cycle control protein	BrainSpLMD|81565;Eurexp|euxassay_012621|clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, olfactory, orbito-sphenoid, trigeminal V, ventral grey horn, vomeronasal organ;BrainSpMouseDev|57675	OMIM|607538
U2	DNMT1	0.406622916	0.000528507	DNA methyltransferase	BrainSpLMD|1786;BrainSpMouseDev|13212	OMIM|126375;HPO|1786|Adult onset, Apathy, Ataxia, Autosomal dominant inheritance, Cataplexy, Cerebellar atrophy, Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers, Dementia, Depressivity, Excessive daytime sleepiness, Excessive daytime somnolence, Hyperreflexia, Hyporeflexia, Impulsivity, Irritability, Memory impairment, Narcolepsy, Osteomyelitis, Primitive reflex, Progressive, Sensorineural hearing impairment, Sensory neuropathy, Spasticity
U2	POLR2K	0.283017703	0.00052898	Transcription regulatory protein	BrainSpLMD|5440;Eurexp|euxassay_019504|incisor, liver, lung, molar, olfactory, submandibular gland primordium, thymus primordium, vibrissa, vomeronasal organ	OMIM|606033
U2	HECTD2	0.870872189	0.000529081	Ubiquitin proteasome system protein	BrainSpLMD|143279	
U2	CTDSP2	0.501689289	0.000531025	Enzyme: Phosphatase	BrainSpLMD|10106;Eurexp|euxassay_004324|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail	OMIM|608711
U2	CISD2	0.483358674	0.000531453	Unclassified	BrainSpLMD|493856	OMIM|611507;HPO|493856|Abnormal bleeding, Abnormality of mesentery morphology, Ataxia, Autosomal recessive inheritance, Depressivity, Diabetes insipidus, Diabetes mellitus, Dysarthria, Dysuria, Feeding difficulties in infancy, Impaired collagen-induced platelet aggregation, Nephropathy, Nystagmus, Optic atrophy, Optic neuropathy, Polydipsia, Recurrent urinary tract infections, Seizures, Sensorineural hearing impairment
U2	PBX3	0.701113301	0.000531957	Transcription factor	BrainSpLMD|5090;Eurexp|euxassay_002571|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, pharyngo-tympanic tube, spinal cord;BrainSpMouseDev|18282	OMIM|176312
U2	SASH1	1.601957754	0.00053899	Adapter molecule	BrainSpLMD|23328	OMIM|607955
U2	TRAPPC2L	0.59222983	0.000544404	Unclassified	BrainSpLMD|51693	OMIM|610970
U2	NXT1	0.363220479	0.000546015	Transport/cargo protein	BrainSpLMD|29107;Eurexp|euxassay_001534|cortex, dorsal root ganglion, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|605811
U2	HAUS6	0.285605246	0.000547014	Unclassified	BrainSpLMD|54801	OMIM|613433
U2	RP1.152L7.5	1.177572548	0.000554224			
U2	ERCC6L	1.996935252	0.000555159	Unclassified	BrainSpLMD|54821	OMIM|300687
U2	TXNDC15	0.533516947	0.000558016	Unclassified	BrainSpLMD|79770	OMIM|617778
U2	RANBP17	1.136733696	0.0005583	Transport/cargo protein	BrainSpLMD|64901	SFARI||Autism, 2 - Strong candidate;OMIM|606141
U2	HIBADH	1.202190036	0.000560921	Enzyme: Dehydrogenase	BrainSpLMD|11112	OMIM|608475
U2	FERMT2	1.018370859	0.000563503	Cytoskeletal protein	BrainSpLMD|10979;Eurexp|euxassay_012610|hindgut, metanephros, midgut, stomach, ventricular layer, wall	OMIM|607746
U2	PPP2R5C	0.266114451	0.000564915	Enzyme regulator	BrainSpLMD|5527	OMIM|601645
U2	CRYBG3	0.995233307	0.000569125	Unclassified		
U2	HNMT	0.383175761	0.0005743	Enzyme: Methyltransferase	BrainSpLMD|3176	OMIM|605238;HPO|3176|Autosomal recessive inheritance, Delayed speech and language development, Global developmental delay, Infantile onset, Intellectual disability, Intellectual disability, severe, Microcephaly
U2	TMEM41A	0.532079779	0.00057455	Integral membrane protein	BrainSpLMD|90407	
U2	CAD	1.113941439	0.000576776	Enzyme: Ligase	BrainSpLMD|790	OMIM|114010;HPO|790|Acanthocytosis, Anemia, Anisopoikilocytosis, Autosomal recessive inheritance, Broad-based gait, Developmental regression, Epileptic encephalopathy, Generalized hypotonia, Global developmental delay, Hyperammonemia, Infantile onset, Poor speech, Progressive, Renal tubular acidosis, Schistocytosis, Status epilepticus
U2	RP11.192N10.2	0.259250636	0.000583406			
U2	METTL5	0.334834484	0.000583442	Unclassified	BrainSpLMD|29081	
U2	FAM101B	1.061831537	0.000592413			
U2	CMC1	1.413060931	0.000595058	Unclassified	BrainSpLMD|152100	OMIM|615166
U2	HINT2	1.300393228	0.000597223	Enzyme: Hydrolase	BrainSpLMD|84681	OMIM|609997
U2	PITPNB	0.318388541	0.000600109	Transport/cargo protein	BrainSpLMD|23760;Eurexp|euxassay_012385|thymus primordium	OMIM|606876
U2	FANCB	1.423160086	0.000601801	Unclassified	BrainSpLMD|2187	OMIM|300515;HPO|2187|Abnormal vertebral morphology, Abnormality of cardiovascular system morphology, Abnormality of chromosome stability, Abnormality of the optic nerve, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anal atresia, Anemia, Aplasia/Hypoplasia of the radius, Aqueductal stenosis, Atrioventricular canal defect, Enlarged kidney, Esophageal atresia, Global developmental delay, Growth delay, Hand polydactyly, Hemivertebrae, Hydrocephalus, Hydronephrosis, Hypopigmented skin patches, Hypoplasia of the radius, Intellectual disability, Intrauterine growth retardation, Irregular hyperpigmentation, Leukopenia, Low-set ears, Microcephaly, Microcornea, Phenotypic variability, Polyhydramnios, Proximal placement of thumb, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Scoliosis, Short humerus, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula, Transposition of the great arteries, Urethral atresia, Ventriculomegaly, X-linked recessive inheritance
U2	RNU4ATAC	1.108455955	0.000606928			OMIM|601428;HPO|100151683|11 pairs of ribs, Abnormal form of the vertebral bodies, Abnormal vertebral ossification, Abnormality of calcium-phosphate metabolism, Abnormality of the intervertebral disk, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the pinna, Abnormality of the pubic bone, Abnormality of the tragus, Absence seizures, Absent knee epiphyses, Agenesis of cerebellar vermis, Agenesis of corpus callosum, Alopecia, Aplasia/hypoplasia of the femur, Aplastic clavicles, Atrial septal defect, Autosomal recessive inheritance, Biconvex vertebral bodies, Bifid femur, Bifid uvula, Bilateral single transverse palmar creases, Bowed humerus, Brachydactyly, Broad distal phalanx of finger, Bulbous nose, Cleft vertebral arch, Clinodactyly of the 5th finger, Coarctation of aorta, Cryptorchidism, Delayed skeletal maturation, Disproportionate short stature, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Dry skin, Dyspnea, Elbow dislocation, Elbow flexion contracture, Enlarged metaphyses, Eosinophilia, Epileptic spasms, Failure to thrive, Femoral bowing, Generalized hypotonia, Glaucoma, Global developmental delay, Hepatomegaly, Heterotopia, Hip contracture, Hip dislocation, Hydronephrosis, Hydroureter, Hyperkeratosis, Hypoplasia of the frontal lobes, Hypoplastic ilia, Hypotrichosis, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Irregular femoral epiphysis, Irregular vertebral endplates, Knee flexion contracture, Large hands, Large iliac wings, Long clavicles, Long foot, Long nose, Long palpebral fissure, Loss of eyelashes, Low-set ears, Lymphadenopathy, Malar flattening, Microcephaly, Micrognathia, Micromelia, Micropenis, Microtia, Muscle stiffness, Oligohydramnios, Osteomalacia, Osteopenia, Osteoporosis, Pachygyria, Platyspondyly, Posteriorly rotated ears, Premature birth, Prolonged neonatal jaundice, Prominent nose, Prominent occiput, Proptosis, Recurrent otitis media, Recurrent pneumonia, Renal cyst, Renal hypoplasia, Respiratory failure, Retrognathia, Rickets, Rigidity, Seizures, Severe short stature, Short femur, Short humerus, Short metacarpal, Short neck, Short palm, Short stature, Short toe, Shoulder flexion contracture, Single transverse palmar crease, Sloping forehead, Small anterior fontanelle, Sparse and thin eyebrow, Sparse eyelashes, Sparse scalp hair, Spasticity, Specific learning disability, Splenomegaly, Spondyloepiphyseal dysplasia, Status epilepticus, Stillbirth, Submucous cleft hard palate, Tetralogy of Fallot, Thick vermilion border, Thickened nuchal skin fold, Thin eyebrow, Underdeveloped nasal alae
U2	CCDC59	0.288681077	0.000607813	Unclassified	BrainSpLMD|29080	
U2	POFUT2	1.694630489	0.000621749	Enzyme: Fucosyltransferase	BrainSpLMD|23275	OMIM|610249
U2	MGAT1	0.585686863	0.000626811	Enzyme: Glucosaminyltransferase	BrainSpLMD|4245	OMIM|160995
U2	DDX23	0.286407821	0.000626895	RNA binding protein	BrainSpLMD|9416	OMIM|612172
U2	CBWD5	0.712905862	0.000632808	Unclassified		
U2	PJA2	0.496903604	0.000632977	Ubiquitin proteasome system protein	BrainSpLMD|9867;Eurexp|euxassay_000283|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	
U2	HEBP1	0.422586042	0.000634382	Unclassified	BrainSpLMD|50865	OMIM|605826
U2	MRPL32	1.190231933	0.000636467	Ribosomal subunit	BrainSpLMD|64983	OMIM|611839
U2	TRAIP	1.227690806	0.00063889	Unclassified	BrainSpLMD|10293	OMIM|605958;HPO|10293|Abnormality of dental enamel, Absent earlobe, Ambiguous genitalia, Atrial septal defect, Autosomal recessive inheritance, Cachexia, Clinodactyly of the 5th finger, Clitoral hypertrophy, Cognitive impairment, Cone-shaped epiphysis, Congenital diaphragmatic hernia, Convex nasal ridge, Craniosynostosis, Decreased fetal movement, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Hip dysplasia, Hypertrichosis, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Polyhydramnios, Prematurely aged appearance, Recurrent urinary tract infections, Reduced number of teeth, Sandal gap, Short stature, Small for gestational age, Sparse scalp hair, Talipes equinovarus, Ventricular septal defect
U2	PMF1	0.404264382	0.000638987	Transcription regulatory protein	BrainSpLMD|11243	OMIM|609176
U2	CHD1L	1.016254049	0.000642929	DNA binding protein	BrainSpLMD|9557	OMIM|613039
U2	MAP3K1	0.710984541	0.000649549	Serine/threonine kinase	Eurexp|euxassay_011095|calyces, incisor, larynx, mantle layer, molar, naris, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, renal/urinary system, sublingual gland primordium, submandibular gland primordium, thyroid, vibrissa	OMIM|600982;COSMIC||luminal A breast, 46, XY sex reversal 6;HPO|4214|Abnormal sex determination, Abnormality of the labia, Abnormality of the scrotum, Ambiguous genitalia, Autosomal dominant inheritance, Azoospermia, Chordee, Clitoral hypertrophy, Cryptorchidism, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Dysgerminoma, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,XY karyotype, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hypergonadotropic hypogonadism, Hypogonadotrophic hypogonadism, Hypoplasia of the vagina, Hypospadias, Male infertility, Male pseudohermaphroditism, Micropenis, Osteoporosis, Polycystic ovaries, Primary amenorrhea, Sex reversal, Sparse axillary hair, Sparse pubic hair, Streak ovary, Testicular dysgenesis, Urogenital sinus anomaly, Vanishing testis
U2	TCTN3	1.188447693	0.000650147	Integral membrane protein	BrainSpLMD|26123;Eurexp|euxassay_011590|choroid invagination, choroid plexus, olfactory, roof plate	OMIM|613847;HPO|26123|Abnormality of eye movement, Abnormality of oral frenula, Abnormality of the gingiva, Abnormality of the tongue, Absent testis, Accessory oral frenulum, Aplasia/Hypoplasia of the tibia, Autosomal recessive inheritance, Bifid uvula, Brachydactyly, Camptodactyly, Camptodactyly of finger, Cerebral atrophy, Cerebral cortical hemiatrophy, Choanal atresia, Cleft palate, Clinodactyly, Conductive hearing impairment, Decreased testicular size, Depressed nasal ridge, Epicanthus, Failure to thrive, Feeding difficulties, Finger syndactyly, Foot polydactyly, Genu varum, Global developmental delay, Hamartoma, Hamartoma of tongue, Hand polydactyly, High palate, High, narrow palate, Horseshoe kidney, Hypertelorism, Intellectual disability, Intrauterine growth retardation, Joint dislocation, Joint laxity, Kyphoscoliosis, Laryngomalacia, Lobulated tongue, Low-set ears, Median cleft lip, Microcephaly, Micrognathia, Micromelia, Microtia, third degree, Molar tooth sign on MRI, Monorchism, Oligohydramnios, Oral synechia, Pectus excavatum, Phenotypic variability, Polydactyly, Porencephalic cyst, Postaxial hand polydactyly, Posteriorly rotated ears, Preaxial hand polydactyly, Proptosis, Recurrent respiratory infections, Retrognathia, Severe short stature, Short finger, Short nose, Short stature, Short tibia, Specific learning disability, Split hand, Subcortical cerebral atrophy, Submucous cleft hard palate, Toe syndactyly, Tongue nodules, Ventricular septal defect, Wide nose
U2	CDK10	1.263082561	0.000653891	Serine/threonine kinase	BrainSpLMD|8558	OMIM|603464
U2	CHMP1A	1.168751669	0.000659801	Metallo protease	BrainSpLMD|5119	SFARI||Autism, 3 - Suggestive evidence;OMIM|164010;HPO|5119|Absent speech, Astigmatism, Autosomal recessive inheritance, Cerebellar hypoplasia, Chorea, Congenital onset, Esotropia, Generalized hypotonia, Global developmental delay, Hypermetropia, Hyperreflexia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, Muscular hypotonia of the trunk, Myopia, Pes cavus, Poor speech, Postnatal microcephaly, Spasticity, Talipes equinovarus, Talipes valgus
U2	NDUFS8	0.383317411	0.000659934	Enzyme: Oxidoreductase	BrainSpLMD|4728	OMIM|602141;HPO|4728|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
U2	TMED2	0.644695792	0.00066762	Transport/cargo protein	BrainSpLMD|10959	
U2	ZNF101	1.419224259	0.000669153	DNA binding protein	BrainSpLMD|94039	OMIM|603983
U2	PRKD3	0.776967721	0.000671097	Serine/threonine kinase	BrainSpLMD|23683	OMIM|607077
U2	PIKFYVE	0.812535279	0.000671884	Lipid Kinase	BrainSpLMD|200576	OMIM|609414;HPO|200576|Autosomal dominant inheritance, Photophobia, Speckled corneal dystrophy
U2	SUB1P3	0.288260417	0.000675489			
U2	TMCO3	0.864016234	0.000675862	Integral membrane protein	BrainSpLMD|55002;Eurexp|euxassay_002820|basal plate, nucleus pulposus, ventral grey horn, ventricular layer	OMIM|617134
U2	TARDBP	0.297911709	0.000676173	DNA binding protein	BrainSpLMD|23435	OMIM|605078;HPO|23435|Amyotrophic lateral sclerosis, Anxiety, Apathy, Autosomal dominant inheritance, Babinski sign, Depressivity, Disinhibition, Dysarthria, Dysphagia, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Perseveration, Rapidly progressive, Respiratory failure, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Stereotypy, Xerostomia
U2	MOV10	1.312077263	0.000682004	Unclassified	BrainSpLMD|4343;Eurexp|euxassay_012341|anterior, midgut, olfactory, otic capsule, pituitary, stomach, turbinate bones	OMIM|610742
U2	RLIM	0.715102137	0.000693516	Transcription regulatory protein	BrainSpLMD|51132;Eurexp|euxassay_006673|embryo	SFARI||Autism, No category;OMIM|300379;HPO|51132|Behavioral abnormality, Broad forehead, Cryptorchidism, Feeding difficulties, Fine hair, Global developmental delay, Hypertelorism, Intellectual disability, Microcephaly, Micrognathia, Poor speech, Prominent nose, Wide nasal bridge, X-linked recessive inheritance
U2	GINS4	2.101875074	0.000696259	Unclassified	BrainSpLMD|84296;Eurexp|euxassay_003568|submandibular gland primordium, ventricular layer, vibrissa	OMIM|610611
U2	TEAD3	1.14761548	0.000700588	Transcription factor	BrainSpLMD|7005;BrainSpMouseDev|21439	OMIM|603170
U2	SCP2	0.640941492	0.000701301	Membrane transport protein	BrainSpLMD|6342	SFARI||Autism, 4 - Minimal evidence;OMIM|184755;HPO|6342|Abnormal motor neuron morphology, Abnormality of saccadic eye movements, Abnormality of thalamus morphology, Autosomal recessive inheritance, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Hyposmia, Intention tremor, Leukoencephalopathy, Peripheral neuropathy, Torticollis
U2	TBL1X	1.055607241	0.000701374	Cell cycle control protein	BrainSpLMD|6907	SFARI||Autism, 4 - Minimal evidence;OMIM|300196
U2	ST6GALNAC3	1.096037708	0.000703993	Enzyme: Sialyltransferase	BrainSpLMD|256435	OMIM|610133
U2	RP11.620J15.3	0.929674674	0.000711271			
U2	GDI2	0.289687905	0.000718999	Membrane transport protein	BrainSpLMD|2665	OMIM|600767
U2	CMBL	1.178587369	0.000719919	Unclassified	BrainSpLMD|134147;Eurexp|euxassay_007377|medulla, meninges	OMIM|613379
U2	FUBP1	0.462839855	0.000721724	Transcription regulatory protein	BrainSpLMD|8880	OMIM|603444;COSMIC||oligodendroglioma
U2	INHBA	1.575420113	0.000722966	Ligand	BrainSpLMD|3624;Eurexp|euxassay_003294|axial skeleton, cranium, forelimb, hindlimb, incisor, mantle layer, molar, naris, nasopharynx, orbito-sphenoid, penis, pharyngo-tympanic tube, respiratory, rib, skeleton, trachea, vibrissa;BrainSpMouseDev|16096	OMIM|147290
U2	FAR1	0.449721141	0.000723741	Enzyme: Reductase	BrainSpLMD|84188	OMIM|616107;HPO|84188|Autosomal recessive inheritance, Cataract, Coarse facial features, Generalized hypotonia, Global developmental delay, Growth delay, Highly arched eyebrow, Intellectual disability, Long philtrum, Macrotia, Microcephaly, Seizures, Spasticity, Thin upper lip vermilion
U2	PDS5B	0.445650052	0.000727391	Transcription factor	BrainSpLMD|23047	OMIM|605333
U2	RP11.734J24.1	0.322864229	0.000729246			
U2	ABHD14A	1.16077073	0.000730616	Enzyme: Hydrolase	BrainSpLMD|25864	
U2	RBM3	0.604641079	0.0007441	RNA binding protein	BrainSpLMD|5935	OMIM|300027
U2	APLP2	0.356277808	0.000756747	Integral membrane protein	BrainSpLMD|334;Eurexp|euxassay_004667|axial muscle, fundus region, submandibular gland primordium, urethra, ventral grey horn, vibrissa	OMIM|104776
U2	PHB	0.483841734	0.000760193	Adapter molecule	BrainSpLMD|5245	SFARI||Autism, 3 - Suggestive evidence;OMIM|176705
U2	SARNP	0.978338557	0.000762477	Unclassified	BrainSpLMD|84324	OMIM|610049
U2	TUBG2	0.370338137	0.00076396	Cytoskeletal associated protein	BrainSpLMD|27175;Eurexp|euxassay_003153|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, marginal layer, molar, olfactory, submandibular gland primordium, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|605785
U2	NABP1	0.633371577	0.000764559	DNA binding protein;RNA binding protein	BrainSpLMD|64859	OMIM|612103
U2	GSTM4	0.917825895	0.000765533	Enzyme: Glutathione transferase	BrainSpLMD|2948;Eurexp|euxassay_018671|olfactory, testis	OMIM|138333
U2	LMAN2	0.456456195	0.000766036	Transport/cargo protein	BrainSpLMD|10960	OMIM|609551
U2	NUP62	0.370821181	0.000766137	Transport/cargo protein	BrainSpLMD|23636	OMIM|605815;HPO|23636|Autosomal recessive inheritance, Choreoathetosis, Developmental regression, Developmental stagnation, Dysphagia, Dystonia, Failure to thrive, Intellectual disability, Optic atrophy, Pendular nystagmus, Spasticity
U2	THBS3	1.842868194	0.000770824	Extracellular matrix protein	BrainSpLMD|7059;Eurexp|euxassay_010545|brain, mesenchyme, spinal cord;BrainSpMouseDev|21586	OMIM|188062
U2	FLNA	0.894571601	0.000775908	Anchor protein;Structural protein	BrainSpLMD|2316	OMIM|300017;COSMIC||phyllodes tumour of the breast;HPO|2316|Abdominal distention, Abnormal bleeding, Abnormal facial shape, Abnormal foot bone ossification, Abnormal form of the vertebral bodies, Abnormal hand bone ossification, Abnormal vertebral segmentation and fusion, Abnormality of dental morphology, Abnormality of metabolism/homeostasis, Abnormality of neuronal migration, Abnormality of oral frenula, Abnormality of skin pigmentation, Abnormality of the cardiac septa, Abnormality of the coagulation cascade, Abnormality of the fifth metatarsal bone, Abnormality of the heart valves, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the pinna, Abnormality of the ribs, Absent frontal sinuses, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Accessory carpal bones, Ankle contracture, Anodontia, Antegonial notching of mandible, Anterior concavity of thoracic vertebrae, Anteriorly placed odontoid process, Aortic regurgitation, Arachnodactyly, Bicuspid aortic valve, Bipartite calcaneus, Bowing of the long bones, Brachydactyly, Broad distal phalanx of the thumb, Broad face, Broad forehead, Broad hallux, Broad phalanges of the hand, Broad thumb, Bulbous tips of toes, Camptodactyly of finger, Camptodactyly of toe, Capitate-hamate fusion, Cerebellar hypoplasia, Cleft palate, Coarse facial features, Coarse hair, Coat hanger sign of ribs, Cognitive impairment, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Congenital hip dislocation, Congestive heart failure, Constipation, Cor pulmonale, Coxa valga, Craniofacial hyperostosis, Cryptorchidism, Delayed closure of the anterior fontanelle, Delayed cranial suture closure, Delayed eruption of teeth, Delayed speech and language development, Dental malocclusion, Depressed nasal bridge, Dislocated radial head, Downslanted palpebral fissures, Elbow dislocation, Elbow flexion contracture, Failure to thrive, Feeding difficulties in infancy, Femoral bowing, Fibroma, Fibular aplasia, Flared iliac wings, Flared metaphysis, Flat face, Focal seizures, Frontal bossing, Frontal hirsutism, Fused cervical vertebrae, Gait disturbance, Gastroesophageal reflux, Genu valgum, Global developmental delay, Glossoptosis, Hearing impairment, Hernia, Heterotopia, High palate, Hip dislocation, Hirsutism, Hoarse voice, Hydrocephalus, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplasia of the musculature, Hypoplastic frontal sinuses, Hypoplastic ilia, Hypoplastic scapulae, Hypospadias, Hypotrichosis, Increased bone mineral density, Increased density of long bone diaphyses, Increased mean platelet volume, Increased size of the mandible, Infantile onset, Intellectual disability, Intellectual disability, mild, Intestinal hypoplasia, Intestinal malrotation, Intestinal pseudo-obstruction, Iris coloboma, Irregular metacarpals, Joint hypermobility, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Large fontanelles, Large foramen magnum, Large forehead, Lateral femoral bowing, Limitation of joint mobility, Limited elbow extension, Limited knee flexion, Lipoatrophy, Localized skin lesion, Long fingers, Long foot, Long metacarpals, Long neck, Long phalanx of finger, Low-set ears, Macrotia, Malar flattening, Micrognathia, Midface retrusion, Misalignment of teeth, Mitral regurgitation, Mitral valve prolapse, Motor delay, Multiple impacted teeth, Multiple joint contractures, Nail dysplasia, Nail dystrophy, Narrow chest, Narrow mouth, Neonatal hypotonia, Nonossified fifth metatarsal, Obtuse angle of mandible, Oligodontia, Omphalocele, Osteolytic defects of the phalanges of the hand, Overlapping fingers, Partial fusion of carpals, Partial fusion of tarsals, Patent ductus arteriosus, Pectus excavatum, Periventricular gray matter heterotopia, Persistence of primary teeth, Pes planus, Pierre-Robin sequence, Platyspondyly, Pointed chin, Postaxial hand polydactyly, Posterior vertebral hypoplasia, Posteriorly rotated ears, Postnatal growth retardation, Prominent forehead, Prominent occiput, Prominent supraorbital ridges, Proptosis, Proximal placement of thumb, Ptosis, Pulmonary arterial hypertension, Pulmonary hypoplasia, Pyloric stenosis, Radial bowing, Radial deviation of the 2nd finger, Recurrent otitis media, Recurrent respiratory infections, Reduced number of teeth, Respiratory failure, Rocker bottom foot, Rudimentary fibula, Sandal gap, Scapular winging, Sclerosis of skull base, Scoliosis, Seizures, Selective tooth agenesis, Sensorineural hearing impairment, Short 3rd metacarpal, Short 4th metacarpal, Short 5th metacarpal, Short chin, Short chordae tendineae of the mitral valve, Short chordae tendineae of the tricuspid valve, Short clavicles, Short distal phalanx of finger, Short distal phalanx of hallux, Short distal phalanx of the thumb, Short hallux, Short humerus, Short metacarpal, Short metatarsal, Short nose, Short palm, Short ribs, Short stature, Short thumb, Short toe, Skeletal dysplasia, Skeletal muscle atrophy, Small face, Smooth philtrum, Spondylolysis, Stillbirth, Strabismus, Stridor, Stroke, Synostosis of carpal bones, Talipes equinovarus, Thick skull base, Thickened calvaria, Thin skin, Thrombocytopenia, Tibial bowing, Toe clinodactyly, Toe syndactyly, Tricuspid regurgitation, Tricuspid valve prolapse, Ulnar bowing, Ulnar deviation of finger, Underdeveloped superior crus of antihelix, Undulate clavicles, Ureteral obstruction, Ureteral stenosis, Vertical clivus, Vomiting, Wide anterior fontanel, Wide nasal bridge, Wormian bones, Wrist flexion contracture, X-linked dominant inheritance, X-linked inheritance, X-linked recessive inheritance
U2	IFRD1	0.490474329	0.000780954	Regulatory/other subunit	BrainSpLMD|3475;Eurexp|euxassay_003205|axial muscle, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, molar, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|603502
U2	ZNF90	0.52658406	0.000790461	Transcription regulatory protein		OMIM|603973
U2	SYS1	0.661003734	0.000802385		BrainSpLMD|90196	OMIM|612979
U2	PDE12	0.639090089	0.00081246	Enzyme: Phosphodiesterase		OMIM|616519
U2	LINC00998	0.399359741	0.000817993			
U2	PSMD2	0.294306292	0.000820736	Ubiquitin proteasome system protein	BrainSpLMD|5708	OMIM|606223
U2	DCTN3	0.710694293	0.000820877	Cell cycle control protein	BrainSpLMD|11258	OMIM|607387
U2	CALM2P2	1.260013283	0.000826168			
U2	CHMP3	0.495502113	0.000826937	Unclassified	BrainSpLMD|51652	OMIM|610052
U2	OPN1SW	0.297325927	0.000828203	G protein coupled receptor	BrainSpLMD|611	OMIM|613522;HPO|611|Abnormal light-adapted electroretinogram, Autosomal dominant inheritance, Tritanomaly
U2	GABPA	0.985297943	0.000833774	Transcription factor	BrainSpLMD|2551;BrainSpMouseDev|14166	OMIM|600609
U2	ZFYVE16	0.374297071	0.000836007	Membrane transport protein	BrainSpLMD|9765	OMIM|608880
U2	COPS7A	1.464062225	0.000845067	Transcription regulatory protein	BrainSpLMD|50813;Eurexp|euxassay_006494|submandibular gland primordium, ventricular layer, vibrissa	OMIM|616009
U2	XPNPEP1	1.180779646	0.000851747	Aminopeptidase	BrainSpLMD|7511	OMIM|602443
U2	RAMP2	0.501289147	0.000857883	Transport/cargo protein	BrainSpLMD|10266;Eurexp|euxassay_006585|aorta, atrium, axial muscle, bladder, hindgut, lung, meninges, metanephros, midgut, skeletal muscle, stomach, ventricle	OMIM|605154
U2	IFIT3	0.653564035	0.00086368	Unclassified	BrainSpLMD|3437;BrainSpMouseDev|15732	OMIM|604650
U2	THOC3	1.207111741	0.000871573	RNA binding protein		OMIM|606929
U2	RFC4	0.462421769	0.000875448	DNA binding protein	BrainSpLMD|5984	OMIM|102577
U2	TRPS1	0.563114086	0.000888101	Transcription factor	BrainSpLMD|7227;Eurexp|euxassay_011487|axial skeleton, basioccipital bone, basisphenoid bone, bladder, clavicle, cornea, cricoid, diaphragm, dorsal grey horn, exoccipital bone, femur, humerus, knee, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, rib, skeletal muscle, sternum, stomach, submandibular gland primordium, thyroid, tongue, trachea, ureter, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|58142	OMIM|604386;HPO|7227|Abnormality of the nervous system, Abnormally low-pitched voice, Accelerated bone age after puberty, Aplasia/Hypoplasia of the mandible, Arthralgia, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Bone pain, Bulbous nose, Camptodactyly of finger, Carious teeth, Chin with horizontal crease, Clinodactyly of the 5th finger, Concave nail, Cone-shaped epiphyses of the middle phalanges of the hand, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphyses of the proximal phalanges of the hand, Cone-shaped epiphysis, Coxa magna, Deep philtrum, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Fine hair, Flat capital femoral epiphysis, Fragile nails, Frontal bossing, Generalized hypotonia, High palate, Hyperlordosis, Increased number of teeth, Infantile muscular hypotonia, Intellectual disability, Ivory epiphyses of the distal phalanges of the hand, Joint dislocation, Joint hyperflexibility, Leukonychia, Long philtrum, Long upper lip, Low-set, posteriorly rotated ears, Macrotia, Microdontia, Micrognathia, Multiple long-bone exostoses, Muscular hypotonia, Narrow palate, Osteoarthritis, Osteopenia, Pear-shaped nose, Pectus carinatum, Pes planus, Protruding ear, Recurrent respiratory infections, Redundant skin, Scapular winging, Scoliosis, Short distal phalanx of finger, Short finger, Short foot, Short metacarpal, Short metatarsal, Short palm, Short phalanx of finger, Short stature, Shortening of all phalanges of fingers, Slow-growing hair, Smooth philtrum, Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Sparse lateral eyebrow, Sparse scalp hair, Swelling of proximal interphalangeal joints, Thick eyebrow, Thin eyebrow, Thin nail, Thin upper lip vermilion, Triangular face, Underdeveloped nasal alae
U2	IRF3	0.967092984	0.000890034	Transcription factor	BrainSpLMD|3661	OMIM|603734
U2	NF2	0.254583548	0.000891665	Cytoskeletal associated protein	BrainSpLMD|4771	OMIM|607379;COSMIC||meningioma, acoustic neuroma, renal, meningioma, acoustic neuroma;HPO|4771|Abnormality of the skin, Abnormality of the vertebral column, Adult onset, Ataxia, Autosomal dominant inheritance, Cataract, Epiretinal membrane, Incomplete penetrance, Meningioma, Migraine, Peripheral neuropathy, Schwannoma, Sensorineural hearing impairment, Somatic mutation, Spinal cord tumor, Tinnitus, Variable expressivity, Vertigo
U2	MLF1	0.336536638	0.000898397	Unclassified	BrainSpLMD|4291;Eurexp|euxassay_009918|choroid invagination, choroid plexus, roof plate	OMIM|601402;COSMIC||AML
U2	SPRED2	0.257964174	0.000911928	Unclassified	BrainSpLMD|200734	OMIM|609292
U2	FKBP9P1	0.440814294	0.000923367	Calcium binding protein		
U2	UBR7	1.094454838	0.000923427	Unclassified	BrainSpLMD|55148	SFARI||Autism, 5 - Hypothesized but untested;OMIM|613816
U2	RAB11A	0.391422329	0.000926034	GTPase	BrainSpLMD|8766	OMIM|605570
U2	RUVBL2	0.531288753	0.000929325	Transcription regulatory protein	BrainSpLMD|10856;Eurexp|euxassay_002276|axial muscle, orbito-sphenoid, skeletal muscle, submandibular gland primordium, turbinate	OMIM|604788
U2	EXPH5	0.977669645	0.00093763	Unclassified	BrainSpLMD|23086	OMIM|612878;HPO|23086|Autosomal recessive inheritance, Epidermal acanthosis, Fragile skin, Hyperkeratosis
U2	RNASEH2A	0.662757312	0.000941925	Ribonuclease	BrainSpLMD|10535	OMIM|606034;HPO|10535|Arrhinencephaly, Autosomal recessive inheritance, CSF lymphocytic pleiocytosis, Cerebellar atrophy, Cerebral atrophy, Cerebral calcification, Cleft eyelid, Convex nasal ridge, Death in childhood, Dystonia, Elevated hepatic transaminases, Feeding difficulties, Hemiplegia/hemiparesis, Hepatomegaly, Hepatosplenomegaly, Hydrocephalus, Infantile onset, Intellectual disability, profound, Intrauterine growth retardation, Leukodystrophy, Low-set ears, Pancytopenia, Porencephalic cyst, Progressive microcephaly, Severe global developmental delay, Spasticity, Splenomegaly, Thrombocytopenia, Ventriculomegaly
U2	CHCHD3	0.625444036	0.000956026	Unclassified	BrainSpLMD|54927;Eurexp|euxassay_001805|lobe, orbito-sphenoid, thymus primordium	OMIM|613748
U2	SORBS3	0.509271508	0.000977779	Adhesion molecule	BrainSpLMD|10174;Eurexp|euxassay_004300|ventricle	OMIM|610795
U2	ZNF331	0.330820157	0.000978196	DNA binding protein	BrainSpLMD|55422	OMIM|606043;COSMIC||follicular thyroid adenoma
U2	FEN1	1.125480654	0.000992434	Deoxyribonuclease	BrainSpLMD|2237	OMIM|600393;COSMIC||breast cancer
U2	ST3GAL2	0.638859658	0.000996125	Enzyme: Sialyltransferase	BrainSpLMD|6483	OMIM|607188
U2	SPINT2	1.091835104	0.000998698	Protease inhibitor	BrainSpLMD|10653;Eurexp|euxassay_010770|bladder, calyces, choroid invagination, choroid plexus, cochlea, cornea, ductus deferens, ear, epidermis, epithelium, incisor, larynx, left lung, mantle layer, metanephros, midgut, molar, olfactory, oral epithelium, pancreas, pelvis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, respiratory, right lung, roof plate, stomach, submandibular gland primordium, thymus primordium, thyroid, urethra, utricle, ventricle, vibrissa, vomeronasal organ;BrainSpMouseDev|20495	OMIM|605124;HPO|10653|Abdominal distention, Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Choanal atresia, Corneal erosion, Hypertelorism, Polyhydramnios, Secretory diarrhea
U2	FXR1	0.340437685	0.001002982	RNA binding protein	BrainSpLMD|8087	OMIM|600819
U2	DYRK4	0.628045692	0.001004246	Serine/threonine kinase	BrainSpLMD|8798	OMIM|609181
U2	CEP250	0.716346083	0.001027252	Unclassified	BrainSpLMD|11190;Eurexp|euxassay_015874|olfactory, vomeronasal organ	OMIM|609689
U2	SNRNP40	0.402131703	0.001031604	RNA binding protein	BrainSpLMD|9410;Eurexp|euxassay_006151|cortex, liver, lung, metanephros, submandibular gland primordium	OMIM|607797
U2	ARL6IP1	0.666484479	0.0010339	Membrane transport protein	BrainSpLMD|23204	OMIM|607669;HPO|23204|Absent Achilles reflex, Autosomal recessive inheritance, Difficulty walking, Hyperactive patellar reflex, Inability to walk, Scissor gait, Sensory neuropathy, Spastic paraplegia
U2	TMEM18	0.505122917	0.001039252	Integral membrane protein	BrainSpLMD|129787;Eurexp|euxassay_003177|lower jaw, submandibular gland primordium	OMIM|613220
U2	VRK1	0.378422001	0.001044321	Serine/threonine kinase	BrainSpLMD|7443	OMIM|602168;HPO|7443|Abnormality of the foot, Ataxia, Autosomal recessive inheritance, Basal ganglia gliosis, Cerebellar hypoplasia, Congenital contracture, Congenital onset, Degeneration of anterior horn cells, EMG: neuropathic changes, Fasciculations, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hyperreflexia, Hypoplasia of the pons, Hypoplasia of the ventral pons, Intellectual disability, Muscle weakness, Neuronal loss in basal ganglia, Progressive, Respiratory insufficiency, Spinal muscular atrophy
U2	MBD4	0.931158615	0.001054252	Transcription regulatory protein	BrainSpLMD|8930	SFARI||Autism, 4 - Minimal evidence;OMIM|603574
U2	SRA1	0.287228269	0.001066272	Unclassified	BrainSpLMD|10011	OMIM|603819;HPO|10011|Autosomal dominant inheritance, Autosomal recessive inheritance, Cryptorchidism, Decreased testicular size, Gynecomastia, Hypogonadotrophic hypogonadism, Micropenis, Primary amenorrhea, Sparse axillary hair, Sparse pubic hair
U2	EIF1AX	0.285145714	0.001075798	Translation regulatory protein	BrainSpLMD|1964	OMIM|300186;COSMIC||uveal melanoma, thyroid cancer (PDTC and ATC), low grade serous ovarian cancer
U2	HYLS1	0.340174267	0.001076817	Unclassified	BrainSpLMD|219844	OMIM|610693;HPO|219844|Abnormal cortical gyration, Abnormality of cardiovascular system morphology, Abnormality of the sense of smell, Abnormality of the vagina, Absent septum pellucidum, Accessory spleen, Adrenal gland dysgenesis, Agenesis of corpus callosum, Agenesis of the diaphragm, Apnea, Arrhinencephaly, Ataxia, Autosomal recessive inheritance, Bifid nose, Bifid uvula, Biparietal narrowing, Broad neck, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Deeply set eye, Episodic tachypnea, Feeding difficulties in infancy, Gait disturbance, Gingival cleft, Global developmental delay, Heterotopia, Hydrocephalus, Intellectual disability, Intrauterine growth retardation, Laryngomalacia, Long face, Low-set, posteriorly rotated ears, Median cleft lip, Micrognathia, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Omphalocele, Polyhydramnios, Postaxial hand polydactyly, Preaxial hand polydactyly, Premature birth, Proximal tibial hypoplasia, Retrognathia, Submucous cleft hard palate, Tracheal atresia, Unilateral cleft lip, Ventricular septal defect
U2	CCT6A	0.294256244	0.001120158	Chaperone	BrainSpLMD|908	OMIM|104613
U2	NUDT15	0.607402937	0.00112893	Enzyme: Hydrolase	BrainSpLMD|55270;Eurexp|euxassay_007037|embryo	OMIM|615792
U2	APOLD1	0.885024743	0.001138538	Unclassified	BrainSpLMD|81575;Eurexp|euxassay_014175|ventricle	OMIM|612456
U2	ZNF618	0.64434779	0.0011452	Unclassified	BrainSpLMD|114991	OMIM|617077
U2	RAB7A	0.26162751	0.001149394	GTPase	BrainSpLMD|7879	OMIM|602298;HPO|7879|Areflexia, Autoamputation of foot, Autosomal dominant inheritance, Axonal degeneration/regeneration, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Dystrophic toenail, Foot dorsiflexor weakness, Foot osteomyelitis, Hammertoe, Hyporeflexia, Peripheral axonal atrophy, Pes cavus, Pes planus, Steppage gait
U2	PSMC1	0.533408929	0.001151136	Ubiquitin proteasome system protein		OMIM|602706
U2	VSIG10	0.365189781	0.001164065	Unclassified	BrainSpLMD|54621	
U2	SMPD1	0.460847614	0.001164237	Enzyme: Esterase	BrainSpLMD|6609;Eurexp|euxassay_018695|choroid invagination, choroid plexus	OMIM|607608;HPO|6609|Abnormal macular morphology, Athetosis, Autosomal recessive inheritance, Bone-marrow foam cells, Cherry red spot of the macula, Constipation, Decreased circulating high-density lipoprotein levels, Diffuse reticular or finely nodular infiltrations, Dyspnea, Failure to thrive, Feeding difficulties in infancy, Foam cells with lamellar inclusion bodies, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hypertriglyceridemia, Hyporeflexia, Increased circulating low-density lipoprotein levels, Infantile onset, Intellectual disability, Juvenile onset, Lymphadenopathy, Microcytic anemia, Muscle weakness, Osteoporosis, Phenotypic variability, Prolonged neonatal jaundice, Protuberant abdomen, Recurrent respiratory infections, Rigidity, Sea-blue histiocytosis, Short stature, Spasticity, Splenomegaly, Vomiting, Xanthomatosis
U2	SLC39A1	0.461877661	0.001167781	Membrane transport protein	BrainSpLMD|27173;Eurexp|euxassay_004867|thymus primordium, ventricular layer	OMIM|604740
U2	CRISPLD1	0.799716802	0.001167956	Secreted polypeptide	BrainSpLMD|83690;Eurexp|euxassay_010145|axial skeleton, basioccipital bone, basisphenoid bone, cartilaginous ring, clavicle, femur, fibula, humerus, mandible, maxilla, meninges, nasal cavity, orbito-sphenoid, petrous part, phalanx, rib, sternum, tarsus, thyroid, tibia, vault of skull	
U2	NPHP3	0.563937545	0.001170827	Adapter molecule	BrainSpLMD|27031	OMIM|608002;HPO|27031|Abnormality of retinal pigmentation, Aortic valve stenosis, Asplenia, Atrial septal defect, Autosomal recessive inheritance, Bile duct proliferation, Biliary cirrhosis, Cholestasis, Cirrhosis, Dandy-Walker malformation, Enlarged kidney, Enuresis, Global developmental delay, Hepatic cysts, Hepatic fibrosis, Hepatomegaly, Hypertension, Intestinal malrotation, Nephronophthisis, Oligohydramnios, Pancreatic cysts, Pancreatic fibrosis, Patent ductus arteriosus, Polycystic kidney dysplasia, Polydipsia, Polysplenia, Polyuria, Potter facies, Premature ovarian insufficiency, Progressive visual loss, Pulmonary hypoplasia, Renal corticomedullary cysts, Renal dysplasia, Renal insufficiency, Retinal dystrophy, Short stature, Stage 5 chronic kidney disease, Tubular atrophy, Tubulointerstitial fibrosis, Visual impairment
U2	ATP6V1H	0.351632553	0.001189335	ATPase	BrainSpLMD|51606;Eurexp|euxassay_000538|brain, central nervous system, ganglion, nerve, spinal cord	OMIM|608861
U2	RNF185	0.610477443	0.001198361	Unclassified	BrainSpLMD|91445;Eurexp|euxassay_006038|olfactory	
U2	FAM120A	0.477596872	0.00121474	Unclassified	BrainSpLMD|23196	OMIM|612265
U2	TSEN15	0.289092166	0.001219582	Ribonuclease	BrainSpLMD|116461	OMIM|608756;HPO|116461|Autosomal recessive inheritance, Congenital onset, Generalized hypotonia, Intellectual disability, Progressive microcephaly, Variable expressivity
U2	LIX1	0.637702623	0.001247018	Unclassified	BrainSpLMD|167410	OMIM|610466
U2	PELO	0.629595535	0.001274875	Cell cycle control protein	Eurexp|euxassay_002572|orbito-sphenoid	OMIM|605757
U2	ASH2L	0.98506558	0.001280094	DNA binding protein	BrainSpLMD|9070;Eurexp|euxassay_011361|molar, olfactory, primitive seminiferous tubules, vomeronasal organ	OMIM|604782
U2	FGFR1OP	0.318859235	0.001288314	Unclassified	BrainSpLMD|11116	OMIM|605392;COSMIC||MPN, NHL
U2	JKAMP	0.485005595	0.001295746	Integral membrane protein	BrainSpLMD|51528;Eurexp|euxassay_009285|brain, spinal cord, trigeminal V	OMIM|611176
U2	STK17B	1.078918533	0.001297858	Serine/threonine kinase	BrainSpLMD|9262	OMIM|604727
U2	SNX18	0.530782156	0.001302316	Transport/cargo protein	BrainSpLMD|112574;Eurexp|euxassay_012165|bladder, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, metanephros, trigeminal V, vestibulocochlear VIII	
U2	LRRC59	2.165754476	0.0013089	Unclassified	BrainSpLMD|55379	OMIM|614854
U2	VAPB	0.780582501	0.001332495	Membrane transport protein	BrainSpLMD|9217;Eurexp|euxassay_001887|dorsal root ganglion	OMIM|605704;HPO|9217|Amyotrophic lateral sclerosis, Anxiety, Areflexia, Autosomal dominant inheritance, Depressivity, Dysarthria, Dyspnea, EMG: neuropathic changes, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Hyporeflexia, Morphological abnormality of the pyramidal tract, Muscle cramps, Neurodegeneration, Neuronal loss in central nervous system, Pain, Paralysis, Postural tremor, Progressive muscle weakness, Proximal muscle weakness, Respiratory failure, Skeletal muscle atrophy, Spasticity, Spinal muscular atrophy, Xerostomia
U2	UBB	0.38945629	0.001340535	Ubiquitin proteasome system protein	BrainSpLMD|7314	OMIM|191339;HPO|7314|Anterior open-bite malocclusion, Autosomal dominant inheritance, Cleft palate, Gingival overgrowth, Intellectual disability, profound, Micrognathia, Overbite, Seizures
U2	CHAF1A	0.648296138	0.001341815	Chaperone	BrainSpLMD|10036	OMIM|601246
U2	XRCC4	1.25225551	0.001352314	DNA repair protein	BrainSpLMD|7518	OMIM|194363;HPO|7518|Abnormality of chromosome stability, Abnormality of lipid metabolism, Acanthosis nigricans, Acute leukemia, Autosomal recessive inheritance, Biparietal narrowing, Bird-like facies, Brachycephaly, Broad nasal tip, Broad-based gait, Cerebellar vermis atrophy, Cognitive impairment, Convex nasal ridge, Cortical gyral simplification, Cryptorchidism, Cutaneous photosensitivity, Deeply set eye, Delayed speech and language development, Diabetes mellitus, Dysarthria, Dysdiadochokinesis, Dysmetria, Ectopic kidney, Epicanthus, Erythema, Global developmental delay, Growth delay, Hepatic steatosis, High forehead, High pitched voice, Hypertriglyceridemia, Hypotelorism, Hypothyroidism, Inguinal hernia, Insulin resistance, Insulin-resistant diabetes mellitus, Intellectual disability, Intrauterine growth retardation, Large beaked nose, Limb undergrowth, Long face, Long nose, Low anterior hairline, Lymphoma, Lymphopenia, Malar prominence, Microcephaly, Micrognathia, Micropenis, Misalignment of teeth, Nystagmus, Pancytopenia, Primary gonadal insufficiency, Prominent nasal bridge, Renal hypoplasia, Sensory neuropathy, Severe combined immunodeficiency, Severe short-limb dwarfism, Short chin, Short stature, Sloping forehead, Telecanthus, Thin vermilion border, Triangular face, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Wide nasal bridge
U2	MTERFD3	1.199236394	0.001356843			
U2	APIP	0.335577997	0.001358165	Unclassified	BrainSpLMD|51074	OMIM|612491
U2	ZC3HAV1	1.522628956	0.001366659	-	BrainSpLMD|56829;Eurexp|euxassay_012472|lobe, thymus primordium	OMIM|607312
U2	PPP1CA	0.998486082	0.001368864	Serine/threonine phosphatase	BrainSpLMD|5499	OMIM|176875
U2	LSM5	0.40456721	0.001376928	RNA binding protein	BrainSpLMD|23658;Eurexp|euxassay_001693|cortex, oesophagus, thymus primordium, ventricular layer	OMIM|607285
U2	NDUFS7	0.417801214	0.001395035	Enzyme: Oxidoreductase	BrainSpLMD|374291	OMIM|601825;HPO|374291|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
U2	EIF3F	0.273414673	0.001395876	Translation regulatory protein		OMIM|603914
U2	SH3BP4	1.138148908	0.00140536	Adapter molecule	BrainSpLMD|23677;Eurexp|euxassay_001751|marginal layer	OMIM|605611
U2	PRKDC	0.395771831	0.001406193	Serine/threonine kinase;DNA repair protein	BrainSpLMD|5591;Eurexp|euxassay_009524|thymus primordium	SFARI||Autism, 4 - Minimal evidence;OMIM|600899;HPO|5591|Autosomal recessive inheritance, Infantile onset, Microcephaly, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Severe combined immunodeficiency
U2	RARB	1.244808534	0.001421468	Nuclear receptor	BrainSpLMD|5915;Eurexp|euxassay_000777|bladder, calyces, dorsal grey horn, foregut-midgut junction, hindgut, incisor, limb, mantle layer, midgut, molar, nasal capsule, oesophagus, olfactory, stomach, urethra;BrainSpMouseDev|85409	OMIM|180220;HPO|5915|Anophthalmia, Autosomal dominant inheritance, Autosomal recessive inheritance, Bicornuate uterus, Broad nasal tip, Congenital diaphragmatic hernia, Micrognathia, Microphthalmia, Pulmonary hypoplasia, Retrognathia, Wide nasal bridge
U2	CETN2	0.506831224	0.001424719	Calcium binding protein	BrainSpLMD|1069;Eurexp|euxassay_015485|choroid plexus, lateral recess	OMIM|300006
U2	C22orf29	0.289470794	0.001429896			
U2	PPIL1	0.680404089	0.001445756	Enzyme: Isomerase	BrainSpLMD|51645;Eurexp|euxassay_005130|bladder, brain, hepatic duct, incisor, larynx, liver, lung, metanephros, midgut, molar, naso-lacrimal duct, olfactory, orbito-sphenoid, pharyngo-tympanic tube, rectum, respiratory, retina, spinal cord, stomach, submandibular gland primordium, tail, thymus primordium, thyroid, tongue, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|601301
U2	PREP	0.518817872	0.001453	Serine protease	BrainSpLMD|5550;Eurexp|euxassay_004891|dorsal root ganglion, facial VII, glossopharyngeal IX, thymus primordium, trigeminal V, vagus X, ventricle, vestibulocochlear VIII, vibrissa	OMIM|600400
U2	SSR2	0.302550525	0.00145306	Transport/cargo protein	BrainSpLMD|6746;Eurexp|euxassay_002335|cranium, orbito-sphenoid	OMIM|600867
U2	C6orf89	0.695196245	0.001461959	Integral membrane protein	BrainSpLMD|221477	OMIM|616642
U2	TAF9	0.330895779	0.001465002	Transcription regulatory protein	BrainSpLMD|6880;Eurexp|euxassay_002090|thymus primordium;BrainSpMouseDev|72303	OMIM|600822
U2	COG4	1.406240988	0.001476609	Transport/cargo protein	BrainSpLMD|25839	OMIM|606976;HPO|25839|Absent speech, Ataxia, Autosomal recessive inheritance, Cerebral atrophy, Elevated alkaline phosphatase, Elevated hepatic transaminases, Generalized hypotonia, Irritability, Muscular hypotonia of the trunk, Recurrent respiratory infections
U2	COX18	0.860421465	0.001481673	Transport/cargo protein;Unclassified	BrainSpLMD|285521	OMIM|610428
U2	MTCH1	0.887866837	0.001481746	Unclassified	BrainSpLMD|23787;Eurexp|euxassay_007787|choroid invagination, choroid plexus, marginal layer, roof plate, thyroid	OMIM|610449
U2	TUBGCP5	0.695657556	0.001505797	Cytoskeletal protein	BrainSpLMD|114791	SFARI||Autism, No category;OMIM|608147
U2	EIF1AY	1.331776709	0.001511721	Translation regulatory protein	BrainSpLMD|9086	OMIM|400014
U2	MRPS11	0.671816596	0.001517169	Ribosomal subunit	BrainSpLMD|64963	OMIM|611977
U2	LOXL2	1.548644748	0.001528549	Enzyme: Oxidase	BrainSpLMD|4017;BrainSpMouseDev|60979	OMIM|606663
U2	SWI5	1.573468651	0.001543414	Unclassified		OMIM|616528
U2	RARS	0.276973327	0.00154963	Enzyme: Ligase	BrainSpLMD|5917	OMIM|107820;HPO|5917|Abnormality of extrapyramidal motor function, Autosomal recessive inheritance, Dysarthria, Dysmetria, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Intellectual disability, Intention tremor, Leukodystrophy, Microcephaly, Nystagmus, Variable expressivity
U2	LDLR	0.398485892	0.001549868	Cell surface receptor	BrainSpLMD|3949;Eurexp|euxassay_010458|adrenal gland, cervical, cervico-thoracic, clavicle, hindgut, incisor, mandible, maxilla, metanephros, midgut, orbito-sphenoid, otic capsule, rib, submandibular gland primordium, thoracic, turbinate, ventral grey horn	OMIM|606945;HPO|3949|Abnormality of internal carotid artery, Angina pectoris, Aortic atherosclerosis, Autosomal dominant inheritance, Cerebral artery atherosclerosis, Corneal arcus, Coronary atherosclerosis, Dyspnea, Heart murmur, Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia, Hypertension, Increased circulating low-density lipoprotein levels, Left ventricular failure, Myocardial infarction, Myocardial steatosis, Peripheral arterial stenosis, Precocious atherosclerosis, Premature arteriosclerosis, Premature coronary artery disease, Renal artery stenosis, Sudden cardiac death, Xanthelasma
U2	NFYC	0.33270727	0.001577699	Transcription factor	BrainSpLMD|4802;BrainSpMouseDev|17813	OMIM|605344
U2	LIN9	0.406131428	0.001583231	Transcription regulatory protein	BrainSpLMD|286826;Eurexp|euxassay_006443|ventricular layer	OMIM|609375
U2	MAP3K3	0.26918082	0.001591223	Serine/threonine kinase	BrainSpLMD|4215	OMIM|602539
U2	CCNE2	0.913487129	0.001596108	Cell cycle control protein	BrainSpLMD|9134	OMIM|603775
U2	PEMT	0.831152327	0.001596838	Enzyme: Methyltransferase	BrainSpLMD|10400	OMIM|602391
U2	ANAPC16	0.407140471	0.001612107	Unclassified	BrainSpLMD|119504	OMIM|613427
U2	LINC00854	0.400518569	0.001614548			
U2	CEP57L1P1	0.788375226	0.001643261			
U2	MID1	0.611123194	0.001660157	Transcription regulatory protein;Ubiquitin proteasome system protein	BrainSpLMD|4281;Eurexp|euxassay_013835|excretory component, marginal layer, neural retina, ventricular layer;BrainSpMouseDev|17087	OMIM|300552;HPO|4281|Abnormal heart morphology, Abnormality of the nasopharynx, Agenesis of corpus callosum, Anal atresia, Anteverted nares, Aspiration, Cleft palate, Cleft upper lip, Cryptorchidism, Dysphagia, Esophageal atresia, Frontal bossing, Gastroesophageal reflux, Global developmental delay, Heterogeneous, High palate, Hypertelorism, Hypospadias, Posterior pharyngeal cleft, Prominent forehead, Smooth philtrum, Telecanthus, Thin upper lip vermilion, Tracheoesophageal fistula, Wide nasal bridge, Widow's peak, X-linked recessive inheritance
U2	MIS12	0.366621176	0.001660491	Cell cycle control protein	BrainSpLMD|79003	OMIM|609178
U2	BRD8	0.728975678	0.001673778	Transcription regulatory protein	BrainSpLMD|10902;Eurexp|euxassay_019636|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	OMIM|602848
U2	LITAF	0.722950752	0.001680846	Transcription factor	BrainSpLMD|9516;Eurexp|euxassay_013657|axial skeleton, incisor, molar, submandibular gland primordium, urethra, ventricular layer, vestibular component, vibrissa	OMIM|603795;HPO|9516|Autosomal dominant inheritance, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Juvenile onset, Onion bulb formation, Pes cavus, Segmental peripheral demyelination/remyelination
U2	ENTPD4	0.879177277	0.001691712	Enzyme: Hydrolase	BrainSpLMD|9583	OMIM|607577
U2	MMP16	0.296788746	0.001693204	Metallo protease	BrainSpLMD|4325;Eurexp|euxassay_002543|body-wall mesenchyme, cochlear duct, cranium, head mesenchyme, mandible, rib, vibrissa	OMIM|602262
U2	TEX2	0.698184235	0.001704563	Unclassified	BrainSpLMD|55852;Eurexp|euxassay_007131|dorsal root ganglion, facial VII, glossopharyngeal IX, left, left lung, neural retina, olfactory, right, right lung, submandibular gland primordium, testis, thymus primordium, thyroid, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	
U2	COL9A1	2.923231498	0.0017095	Extracellular matrix protein	BrainSpLMD|1297;Eurexp|euxassay_011520|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, hyoid bone, mandible, maxilla, metacarpus, metatarsus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, radius, rib, scapula, sternum, submandibular gland primordium, temporal bone, thyroid, tibia, trachea, turbinate, ulna, vault of skull;BrainSpMouseDev|12622	OMIM|120210;HPO|1297|Abnormality of epiphysis morphology, Abnormality of the knee, Amblyopia, Arthralgia, Arthralgia of the hip, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Childhood onset, Cleft palate, Degenerative vitreoretinopathy, Epiphyseal dysplasia, Flat capital femoral epiphysis, Flat distal femoral epiphysis, Flat face, Gait disturbance, Genu valgum, Hip dysplasia, Irregular distal femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Limitation of joint mobility, Malar flattening, Micrognathia, Micromelia, Multiple epiphyseal dysplasia, Myopia, Osteoarthritis, Platyspondyly, Retinal detachment, Schmorl's node, Sensorineural hearing impairment, Severe Myopia, Short stature, Small epiphyses, Vitreoretinal degeneration
U2	SELK	0.288490202	0.00172314			
U2	LACE1	0.544683509	0.001737513			
U2	MLH1	0.605588162	0.001760041	DNA repair protein	BrainSpLMD|4292	OMIM|120436;COSMIC||colorectal, endometrial, ovarian, CNS tumours, colorectal, endometrial, ovarian, CNS;HPO|4292|Abdominal pain, Abnormality of abdomen morphology, Adenoma sebaceum, Anxiety, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary freckling, Basal cell carcinoma, Benign gastrointestinal tract tumors, Benign genitourinary tract neoplasm, Breast carcinoma, Cafe-au-lait spot, Colon cancer, Colonic diverticula, Constipation, Death in early adulthood, Death in infancy, Depressivity, Duodenal adenocarcinoma, Ependymoma, Fatigue, Gastrointestinal hemorrhage, Glioblastoma, Hypermelanotic macule, Hypertonia, Increased intracranial pressure, Irritability, Laryngeal carcinoma, Leukemia, Lymphoma, Malabsorption, Malignant genitourinary tract tumor, Medulloblastoma, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Neoplasm of the stomach, Neuroblastoma, Rhabdomyosarcoma, Sebaceous gland carcinoma, Seizures, Weight loss
U2	SRP54	0.757125723	0.001785344	RNA binding protein	BrainSpLMD|6729;Eurexp|euxassay_013249|embryo	OMIM|604857
U2	DDIT4	0.352424341	0.001788023	Unclassified	BrainSpLMD|54541	OMIM|607729
U2	HELB	0.844639448	0.001793379	DNA helicase	BrainSpLMD|92797	OMIM|614539
U2	THUMPD3.AS1	0.567477249	0.001801316			
U2	INSIG2	0.673102789	0.001838192	Unclassified	BrainSpLMD|51141;Eurexp|euxassay_008853|corpus striatum, mandible, maxilla	OMIM|608660
U2	PRIMPOL	0.906367104	0.001845767	Unclassified	BrainSpLMD|201973	OMIM|615421;HPO|201973|Autosomal dominant inheritance, Myopia, Reduced visual acuity, Visual impairment
U2	AUP1	0.265538281	0.001847474	Unclassified	BrainSpLMD|550	OMIM|602434
U2	SUCLG2	1.236526148	0.001850987	Enzyme: Ligase	BrainSpLMD|8801;Eurexp|euxassay_018982|hindgut, incisor, liver, lung, mandible, mantle layer, maxilla, metanephros, midgut, molar, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, pituitary, stomach, submandibular gland primordium, thymus primordium, thyroid, urethra, ventricular layer, vertebral axis muscle system, vibrissa	SFARI||Autism, 6 - Evidence does not support role;OMIM|603922
U2	POLA1	0.529339716	0.001855488	DNA polymerase	BrainSpLMD|5422	OMIM|312040;HPO|5422|Abnormality of chromosome stability, Abnormality of metabolism/homeostasis, Amyloidosis, Broad eyebrow, Colitis, Corneal scarring, Cryptorchidism, Diarrhea, Failure to thrive in infancy, Generalized reticulate brown pigmentation, Global developmental delay, Hearing impairment, Hemiplegia, Hyperkeratosis, Hypohidrosis, Hypospadias, Inguinal hernia, Intellectual disability, Leukemia, Neoplasm, Opacification of the corneal stroma, Photophobia, Recurrent infection of the gastrointestinal tract, Recurrent pneumonia, Seizures, Spasticity, Urethral stricture, Visual impairment, Visual loss, X-linked inheritance, X-linked recessive inheritance
U2	PRKCSH	0.378463833	0.001861487	Regulatory/other subunit	BrainSpLMD|5589	OMIM|177060;HPO|5589|Abdominal distention, Abnormality of the cardiovascular system, Abnormality of the nervous system, Ascites, Autosomal dominant inheritance, Back pain, Hepatomegaly, Increased total bilirubin, Multiple renal cysts, Polycystic liver disease, Renal cyst
U2	YIF1A	1.249197502	0.001868287	Integral membrane protein	BrainSpLMD|10897	OMIM|611484
U2	ZNF700	1.078042873	0.001872556	DNA binding protein	BrainSpLMD|90592	
U2	RHEBP1	0.502998516	0.001879556			
U2	ACKR3	1.156789042	0.001881596	G protein coupled receptor	BrainSpLMD|57007;Eurexp|euxassay_005213|atrium, calyces, capsule, cortex, mantle layer, marginal layer, medulla, meninges, mesenchyme, oesophagus, stomach, ventricle, ventricular layer	OMIM|610376;COSMIC||lipoma
U2	FAM162A	0.57081475	0.00188648	Unclassified	BrainSpLMD|26355	OMIM|608017
U2	PARVB	0.575246357	0.001891813	Adhesion molecule	BrainSpLMD|29780;Eurexp|euxassay_007690|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, left, mandible, mantle layer, maxilla, molar, neural retina, palatal shelf, pituitary, right, roof plate, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|82039	OMIM|608121
U2	PEG3	0.744443285	0.001911728	Transcription factor	BrainSpLMD|5178	OMIM|601483
U2	CHN1	0.953907598	0.001911799	GTPase activating protein	BrainSpLMD|1123	OMIM|118423;HPO|1123|Abnormal vertebral segmentation and fusion, Anteverted nares, Autosomal dominant inheritance, Blepharophimosis, Deeply set eye, Duane anomaly, Low posterior hairline, Oculomotor nerve palsy, Sensorineural hearing impairment, Short palpebral fissure, Strabismus
U2	CDK4	0.875218785	0.00191542	Cell cycle control protein	BrainSpLMD|1019;Eurexp|euxassay_018619|ventricular layer	OMIM|123829;COSMIC||melanoma;HPO|1019|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus, Subcutaneous nodule
U2	UGGT2	0.586125534	0.001929226	Enzyme: Glycosyltransferase	BrainSpLMD|55757	OMIM|605898
U2	TWF1	0.636098878	0.001931078	Tyrosine kinase	BrainSpLMD|5756;Eurexp|euxassay_018637|olfactory	OMIM|610932
U2	CDC37	0.363580152	0.001932546	Chaperone	BrainSpLMD|11140	OMIM|605065
U2	RP11.758H9.2	1.778836517	0.001949518			
U2	RP11.278C7.1	1.539122976	0.001986164			
U2	GPR125	0.363092904	0.001987697			
U2	LINC00263	0.527642178	0.001989265			
U2	MYBL1	1.427065435	0.001999657	Transcription regulatory protein	Eurexp|euxassay_019606|adrenal gland, neural retina, olfactory, testis, ventricular layer, vomeronasal organ;BrainSpMouseDev|17631	OMIM|159405
U2	FAM3C	0.465688923	0.002010809	Cytokine	BrainSpMouseDev|27743	OMIM|608618
U2	ATP6V0E1	0.744087973	0.002030726	ATPase	BrainSpLMD|8992;Eurexp|euxassay_002321|Meckel's cartilage, basisphenoid bone, orbito-sphenoid, turbinate	OMIM|603931
U2	HIAT1	0.545729819	0.002058313			
U2	XRCC2	1.060022327	0.002062521	DNA binding protein	BrainSpLMD|7516	OMIM|600375;HPO|7516|Abnormality of chromosome stability, Absent scaphoid, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Global developmental delay, Growth delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Patent ductus arteriosus, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia
U2	PSMD1	0.603599775	0.002064268	Ubiquitin proteasome system protein	BrainSpLMD|5707;Eurexp|euxassay_016545|dorsal root ganglion, lung, mantle layer, olfactory, thymus primordium, ventral grey horn	
U2	TMEM138	0.566055174	0.002066332	Integral membrane protein	BrainSpLMD|51524;Eurexp|euxassay_012505|choroid invagination, choroid plexus, ventricular layer	OMIM|614459;HPO|51524|Apnea, Ataxia, Autistic behavior, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Coloboma, Global developmental delay, Intellectual disability, Iris coloboma, Long face, Low-set, posteriorly rotated ears, Molar tooth sign on MRI, Muscular hypotonia, Nephropathy, Nystagmus, Oculomotor apraxia, Ptosis, Retinal dystrophy, Tachypnea
U2	TAF1D	0.391822319	0.002124213	Unclassified	BrainSpLMD|79101	OMIM|612823
U2	GAR1	0.831136102	0.002140156	Enzyme: Reductase	BrainSpLMD|54433	OMIM|606468
U2	AC004381.6	0.945003069	0.002145137			
U2	RPS3AP6	0.315131742	0.002147385			
U2	RPGRIP1L	0.5371911	0.002150783	Unclassified		OMIM|610937;HPO|23322|Abnormality of the corpus callosum, Abnormality of the urinary system, Anencephaly, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Bowing of the long bones, Brainstem dysplasia, Cataract, Central apnea, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cirrhosis, Cleft palate, Cleft upper lip, Coloboma, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Elevated hepatic transaminases, Encephalocele, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Heterogeneous, Hyperreflexia, Hypertelorism, Hypoplasia of the brainstem, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intrahepatic biliary atresia, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Multiple small medullary renal cysts, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nephropathy, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic nerve coloboma, Phenotypic variability, Portal hypertension, Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Ptosis, Renal cyst, Renal insufficiency, Retinal dystrophy, Round face, Sclerocornea, Scoliosis, Sloping forehead, Spasticity, Splenomegaly, Talipes, Visual impairment, Wide mouth
U2	HYAL2	0.988932906	0.002158817	Enzyme: Hydrolase	BrainSpLMD|8692;Eurexp|euxassay_011689|submandibular gland primordium	OMIM|603551
U2	TFG	0.48097914	0.002167702	Enzyme regulator	BrainSpLMD|10342	OMIM|602498;COSMIC||papillary thyroid, ALCL, NSCLC, extraskeletal myxoid chondrosarcoma;HPO|10342|Abnormal myelination, Abnormality of peripheral nerve conduction, Abnormality of the Achilles tendon, Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Difficulty climbing stairs, Difficulty standing, Distal lower limb amyotrophy, Distal sensory impairment, Fasciculations, Gait disturbance, Gliosis, Hyperlipidemia, Hyperreflexia, Inability to walk, Mildly elevated creatine phosphokinase, Motor polyneuropathy, Optic atrophy, Peripheral neuropathy, Proximal amyotrophy, Proximal muscle weakness, Sensorimotor neuropathy, Sensory neuropathy, Slow progression, Spastic paraplegia, Tetraplegia, Visual loss
U2	LRRN3	1.008587178	0.002177267	Integral membrane protein	BrainSpLMD|54674;Eurexp|euxassay_015911|cervical, cervico-thoracic, ear, facial VII, glossopharyngeal IX, lip, mantle layer, marginal layer, medulla, neural retina, olfactory, pituitary, stomach, thoracic, trachea, trigeminal V, ventral grey horn, vestibular component, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16751	
U2	CDC27	0.751283484	0.002197579	Cell cycle control protein	BrainSpLMD|996	OMIM|116946
U2	HAUS1	0.413480905	0.002204747	Cell cycle control protein	BrainSpLMD|115106;Eurexp|euxassay_003161|chondrocranium, cortex, incisor, lobe, oesophagus, pancreas, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|608775
U2	SLC38A10	0.751246924	0.00221816	Integral membrane protein	BrainSpLMD|124565;Eurexp|euxassay_004151|dorsal root ganglion, mandible, orbito-sphenoid, palatal shelf, rib	SFARI||Autism, 3 - Suggestive evidence;OMIM|616525
U2	CALCOCO2	0.76182137	0.002233968	Unclassified	BrainSpLMD|10241	OMIM|604587
U2	NDUFA6	0.25003395	0.002256403	Enzyme: Oxidoreductase	BrainSpLMD|4700	OMIM|602138
U2	GID8	0.286197748	0.002266475	Unclassified	BrainSpLMD|54994	OMIM|611625
U2	ABHD4	1.246757035	0.002298791	Unclassified	BrainSpLMD|63874;Eurexp|euxassay_001761|dorsal root ganglion, marginal layer, trigeminal V, ventricular layer;BrainSpMouseDev|69666	
U2	MORF4	0.33054089	0.0023053	Transcription factor		OMIM|116960
U2	ZNF449	0.965754401	0.002340159	Transcription regulatory protein	BrainSpLMD|203523	OMIM|300627
U2	ADCY9	1.337843143	0.002420154	Adenylate cyclase	BrainSpLMD|115;BrainSpMouseDev|11302	OMIM|603302
U2	DENND5A	0.256072359	0.002433695	Unclassified	BrainSpLMD|23258	OMIM|617278
U2	CDC40	0.453546414	0.002456633	Transcription regulatory protein	BrainSpLMD|51362;Eurexp|euxassay_012662|choroid plexus, floorplate, olfactory	OMIM|605585
U2	DDX58	0.690994581	0.002459431	RNA helicase	BrainSpLMD|23586;Eurexp|euxassay_009569|calyces, olfactory, ovary, stomach, submandibular gland primordium, thymus primordium	OMIM|609631;HPO|23586|Autosomal dominant inheritance, Glaucoma, Hyperkeratosis
U2	LINC00963	0.875036063	0.002495281			
U2	CNOT8	0.749146377	0.002540097	Transcription regulatory protein	BrainSpLMD|9337;Eurexp|euxassay_011364|incisor	OMIM|603731
U2	CEP85	1.096729733	0.002552096	Unclassified	BrainSpLMD|64793	
U2	KLHDC3	1.010868957	0.002552772	DNA binding protein	BrainSpLMD|116138	OMIM|611248
U2	EDEM1	0.266132725	0.002578197	Unclassified	BrainSpLMD|9695	OMIM|607673
U2	CTD.3099C6.9	0.384479656	0.002593732			
U2	AARS	0.336792715	0.002616755	Enzyme: Ligase	BrainSpLMD|16	OMIM|601065;HPO|16|Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Blepharospasm, CNS hypomyelination, Cerebral atrophy, Chorea, Congenital onset, Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment, Epileptic encephalopathy, Failure to thrive, Foot dorsiflexor weakness, Generalized hypotonia, Global developmental delay, Hammertoe, Hip dislocation, Intrauterine growth retardation, Microcephaly, Nystagmus, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Sensorineural hearing impairment, Short stature, Skeletal muscle atrophy, Spasticity, Variable expressivity
U2	C11orf83	0.500177564	0.002658893			
U2	RNFT1	0.844012622	0.00266362	Integral membrane protein	BrainSpLMD|51136	OMIM|615172
U2	IFT81	0.67987993	0.002674423	Unclassified	BrainSpLMD|28981	OMIM|605489
U2	ZNF85	1.419226701	0.002697882	DNA binding protein	BrainSpLMD|7639	OMIM|603899
U2	SDF2	0.751117993	0.002702599	Secreted polypeptide	BrainSpLMD|6388	OMIM|602934
U2	KIAA0907	0.427117215	0.002755841			
U2	RGPD3	2.477992207	0.002766344			OMIM|612706;COSMIC||endometrioid adenocarcinoma
U2	DYNLRB1	0.365370948	0.00277261	Unclassified;Transport/cargo protein	BrainSpLMD|83658;Eurexp|euxassay_002535|dorsal root ganglion	OMIM|607167
U2	KLHL18	1.136945453	0.002817294	Cytoskeletal associated protein	BrainSpLMD|23276;Eurexp|euxassay_005777|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	
U2	GLOD4	0.321704231	0.002838422	Unclassified	BrainSpLMD|51031	
U2	MED31	0.552098273	0.0028552	Transcription regulatory protein	BrainSpLMD|51003	
U2	ZNF367	1.275564368	0.002868376	DNA binding protein	BrainSpLMD|195828	OMIM|610160
U2	KIF16B	1.30105353	0.002870104	Membrane transport protein	BrainSpLMD|55614	
U2	MTX3	0.552928873	0.002920341	Unclassified		
U2	SURF2	0.83283323	0.00292923	Unclassified		OMIM|185630
U2	PER1	0.449813461	0.002935565	Transcription regulatory protein	BrainSpLMD|5187;BrainSpMouseDev|18392	SFARI||Autism, 4 - Minimal evidence;OMIM|602260;COSMIC||AML, CMML
U2	PPIAP29	0.409587877	0.002936762			
U2	LLPH	0.323549033	0.00299042	Unclassified	BrainSpLMD|84298	OMIM|616998
U2	ADSS	0.302925708	0.003096515	Enzyme: Synthase	BrainSpLMD|159	OMIM|103060
U2	ZBED6	0.292817004	0.003098558		Eurexp|euxassay_017839|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613512
U2	SERPINB6	0.797368388	0.003104804	Protease inhibitor	BrainSpLMD|5269;Eurexp|euxassay_012500|adrenal gland, aorta, diaphragm, dorsal root ganglion, epithelium, eyelid, facial VII, glossopharyngeal IX, hindgut, incisor, left lung, mantle layer, mesenchyme, midgut, naris, naso-lacrimal duct, ovary, rectum, right lung, submandibular gland primordium, testis, thymus primordium, trachea, trigeminal V, umbilical artery, vagus X, ventral grey horn	OMIM|173321;HPO|5269|Autosomal recessive inheritance, Progressive hearing impairment
U2	GNG10	0.59126031	0.003126089	GTPase	Eurexp|euxassay_003816|alimentary system, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|604389
U2	DYNC2H1	0.429401112	0.003166809	Motor protein	Eurexp|euxassay_014017|olfactory, ventricular layer	OMIM|603297;HPO|79659|Abdominal distention, Abnormal pelvis bone ossification, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Brachydactyly, Cleft upper lip, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypoplasia of penis, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Narrow chest, Postaxial hand polydactyly, Renal hypoplasia, Respiratory insufficiency, Short foot, Short palm, Short ribs, Short thorax, Skeletal dysplasia, Urethrovaginal fistula, Uterus didelphys, Wide nose
U2	PPP1CC	0.729279458	0.003174185	Serine/threonine phosphatase	BrainSpLMD|5501	OMIM|176914
U2	NUP133	0.545398056	0.003181019	Transport/cargo protein	BrainSpLMD|55746	SFARI||Autism, 4 - Minimal evidence;OMIM|607613
U2	ZNHIT1	0.609503865	0.003182374	Unclassified	BrainSpLMD|10467	
U2	PIAS3	1.931559001	0.003183209	Transcription regulatory protein	BrainSpLMD|10401;Eurexp|euxassay_012427|ventricular layer	OMIM|605987
U2	PMM1	0.643714531	0.003211899	Enzyme: Mutase	BrainSpLMD|5372;Eurexp|euxassay_011907|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X	OMIM|601786
U2	TIMM23B	1.230464801	0.003229637		Eurexp|euxassay_002670|basal plate, incisor, molar, orbito-sphenoid, submandibular gland primordium, ventral grey horn, ventricular layer	
U2	UBR1	0.627394855	0.003231176	Ubiquitin proteasome system protein	BrainSpLMD|197131	OMIM|605981;HPO|197131|Abnormal hair pattern, Abnormality of the nail, Abnormality of the vagina, Absent lacrimal punctum, Agenesis of permanent teeth, Alopecia, Anal atresia, Anasarca, Anemia, Anteriorly placed anus, Aplasia cutis congenita of scalp, Atrial septal defect, Autosomal recessive inheritance, Cafe-au-lait spot, Calvarial skull defect, Clinodactyly of the 5th finger, Clitoral hypertrophy, Colonic diverticula, Convex nasal ridge, Cryptorchidism, Death in childhood, Delayed eruption of teeth, Delayed skeletal maturation, Diabetes mellitus, Exocrine pancreatic insufficiency, Failure to thrive, Fair hair, Frontal upsweep of hair, Generalized hypotonia, Hydronephrosis, Hypocalcemia, Hypoplasia of the primary teeth, Hypoplastic nipples, Hypoproteinemia, Hypospadias, Hypothyroidism, Increased circulating very-low-density lipoprotein levels, Intellectual disability, Intrauterine growth retardation, Joint laxity, Lacrimation abnormality, Malabsorption, Microcephaly, Microdontia, Micropenis, Midline skin dimples over anterior/posterior fontanelles, Oligodontia, Rectovaginal fistula, Sensorineural hearing impairment, Septate vagina, Short nose, Short stature, Single transverse palmar crease, Situs inversus totalis, Small for gestational age, Sparse scalp hair, Strabismus, Underdeveloped nasal alae, Urethrovaginal fistula, Ventricular septal defect
U2	BAG4	0.594514018	0.003234938	Adapter molecule	BrainSpLMD|9530;Eurexp|euxassay_008224|naris, oesophagus, olfactory, pituitary, tongue, urethra, ventricle	OMIM|603884
U2	MAP3K7	0.273439355	0.003255121	Serine/threonine kinase	BrainSpLMD|6885;BrainSpMouseDev|26157	OMIM|602614;HPO|6885|Abnormal form of the vertebral bodies, Abnormality of dental morphology, Abnormality of the dentition, Abnormality of the metaphysis, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Anteverted nares, Autosomal dominant inheritance, Bicuspid aortic valve, Bowing of the long bones, Brachydactyly, Broad nasal tip, Camptodactyly, Camptodactyly of finger, Carpal synostosis, Conductive hearing impairment, Cone-shaped epiphysis, Congenital hip dislocation, Congenital sensorineural hearing impairment, Craniofacial hyperostosis, Decreased testicular size, Deep philtrum, Delayed skeletal maturation, Depressed nasal bridge, Dislocated radial head, Downslanted palpebral fissures, Elbow dislocation, Failure to thrive, Freckling, Full cheeks, Fused cervical vertebrae, Gastroesophageal reflux, High palate, Hip contracture, Hypertelorism, Hypoplasia of the musculature, Irregular metacarpals, Joint laxity, Joint stiffness, Long fingers, Long metacarpals, Long philtrum, Micrognathia, Mitral regurgitation, Patent ductus arteriosus, Patent foramen ovale, Pointed chin, Posterior vertebral hypoplasia, Posteriorly rotated ears, Prominent supraorbital ridges, Pseudoepiphyses, Pulmonic stenosis, Recurrent otitis media, Reduced number of teeth, Rib fusion, Scoliosis, Sensorineural hearing impairment, Short distal phalanx of hallux, Short distal phalanx of the thumb, Short foot, Short metacarpal, Short metatarsal, Short philtrum, Short stature, Strabismus, Subglottic stenosis, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Telecanthus, Thick eyebrow, Tracheal stenosis, Ulnar deviation of finger, Ulnar deviation of the hand, Upslanted palpebral fissure, Vesicoureteral reflux, Wide nasal bridge
U2	TMEM216	1.014005417	0.003281433	Unclassified	BrainSpLMD|51259	OMIM|613277;HPO|51259|Abnormal renal physiology, Abnormality of saccadic eye movements, Abnormality of the corpus callosum, Abnormality of the foot, Agenesis of cerebellar vermis, Anencephaly, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autistic behavior, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Blindness, Bowing of the long bones, Brainstem dysplasia, Cataract, Central apnea, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cleft palate, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Depressed nasal ridge, Dolichocephaly, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar peduncle, Encephalocele, Enlarged fossa interpeduncularis, Episodic tachypnea, Esotropia, Failure to thrive, Frontal bossing, Full cheeks, Generalized hypotonia, Global developmental delay, Heterogeneous, High palate, Hydrocephalus, Hypertelorism, Hypoplasia of the brainstem, Hypoplastic male external genitalia, Impaired smooth pursuit, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Meningocele, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nephropathy, Nystagmus, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic nerve coloboma, Phenotypic variability, Polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Ptosis, Renal cyst, Retinal dystrophy, Sclerocornea, Sloping forehead, Tachypnea, Talipes, Thickened superior cerebellar peduncle, Visual impairment
U2	NIP7	0.952973303	0.00328818	RNA binding protein	BrainSpLMD|51388;Eurexp|euxassay_004749|brain, incisor, liver, lung, mesenchyme, metanephros, midgut, molar, olfactory, respiratory, spinal cord, submandibular gland primordium, thymus primordium, vibrissa	
U2	TMEM243	1.005165278	0.00333503	Integral membrane protein	BrainSpLMD|79161	OMIM|616993
U2	CLEC2D	0.53912429	0.003346748	Cell surface receptor	BrainSpLMD|29121	OMIM|605659
U2	NDUFB3	0.573056195	0.003347282	Enzyme: Oxidoreductase	BrainSpLMD|4709	OMIM|603839;HPO|4709|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
U2	RMDN1	1.125317199	0.00335873	Unclassified	BrainSpLMD|51115	OMIM|611871
U2	RBM15	0.517880327	0.003376561	RNA binding protein	BrainSpLMD|64783	OMIM|606077;COSMIC||acute megakaryocytic leukaemia
U2	NUP43	0.760428173	0.003378293	Transport/cargo protein	BrainSpLMD|348995;Eurexp|euxassay_007275|bladder, cortex, incisor, left lung, liver, mesenchyme, midgut, molar, olfactory, pectoral girdle and thoracic body wall, right lung, thymus primordium	OMIM|608141
U2	GOSR1	0.693818181	0.003406792	Membrane transport protein	BrainSpLMD|9527	OMIM|604026
U2	TLE4	0.493163708	0.003411251	Transcription factor	BrainSpLMD|7091;Eurexp|euxassay_018870|calyces, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|21647	OMIM|605132
U2	GPN3	1.224044828	0.003456433	Unclassified	BrainSpLMD|51184	
U2	RBMS3.AS2	0.626929938	0.003468285			
U2	TAB1	0.447079902	0.003486677	Serine/threonine phosphatase	BrainSpLMD|10454	OMIM|602615
U2	ZNF800	0.393262278	0.003504092	DNA binding protein	BrainSpLMD|168850	
U2	STRIP2	1.809663812	0.003510392	Unclassified	BrainSpLMD|57464;BrainSpMouseDev|107544	
U2	AC016739.2	0.250570021	0.003528096			
U2	MRRF	1.468007396	0.003538888	Unclassified	BrainSpLMD|92399	OMIM|604602
U2	NEK3	0.784273362	0.003547987	Serine/threonine kinase	BrainSpLMD|4752	OMIM|604044
U2	CROT	0.988101969	0.003548489	Enzyme: Acyltransferase	BrainSpLMD|54677	OMIM|606090
U2	GOLPH3	0.336338575	0.003551034	Transport/cargo protein	BrainSpLMD|64083	OMIM|612207
U2	C6orf120	0.71691152	0.003551367	Unclassified	Eurexp|euxassay_008189|head mesenchyme, lung, pituitary, tongue, urethra, ventricle	OMIM|616987
U2	MAPRE1	0.50408904	0.003685119	Cell cycle control protein	BrainSpLMD|22919	OMIM|603108
U2	DDB2	0.612035425	0.003714917	DNA binding protein	BrainSpLMD|1643	OMIM|600811;COSMIC||skin basal cell, skin squamous cell, melanoma;HPO|1643|Abnormality of the dentition, Arthralgia, Autosomal recessive inheritance, Basal cell carcinoma, Cataract, Cognitive impairment, Conjunctival telangiectasia, Conjunctivitis, Cryptorchidism, Cutaneous photosensitivity, Defective DNA repair after ultraviolet radiation damage, Dermal atrophy, Developmental regression, Dry skin, EEG abnormality, Ectropion, Entropion, Erythema, Failure to thrive, Fatigue, Fever, Freckling, Hyperkeratosis, Hypermelanotic macule, Hypogonadism, Hypopigmented skin patches, Intellectual disability, progressive, Keratitis, Melanoma, Optic atrophy, Papilloma, Photophobia, Poikiloderma, Sensorineural hearing impairment, Squamous cell carcinoma of the skin, Strabismus, Telangiectasia, Telangiectasia of the skin, Thin skin
U2	CEP78	0.484645541	0.003736803	Unclassified		OMIM|617110;HPO|84131|Abnormal electroretinogram, Abnormality of cochlea, Astigmatism, Ataxia, Autosomal recessive inheritance, Cataract, Hemianopia, High-grade hypermetropia, Iris hypopigmentation, Macular degeneration, Nyctalopia, Nystagmus, Photophobia, Scotoma, Sensorineural hearing impairment, Vestibular hypofunction, Visual loss
U2	CBWD2	0.312089105	0.003761063	Unclassified		OMIM|611079
U2	ETF1	0.607560698	0.003785548	Translation regulatory protein	BrainSpLMD|2107	OMIM|600285
U2	AZIN1	0.397576449	0.003795859	Unclassified	BrainSpLMD|51582	OMIM|607909
U2	RAP1B	1.013933607	0.003813392	GTPase	BrainSpLMD|5908	OMIM|179530;HPO|5908|Abnormal dermatoglyphics, Abnormality of the cardiac septa, Butterfly vertebrae, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Conductive hearing impairment, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Hemivertebrae, High palate, Highly arched eyebrow, Hydrocephalus, Hypodontia, Joint hyperflexibility, Long eyelashes, Macrotia, Microcephaly, Microdontia, Muscular hypotonia, Protruding ear, Ptosis, Recurrent infections, Scoliosis, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Sparse lateral eyebrow, Strabismus, Ventriculomegaly, Widely spaced teeth
U2	SHQ1	1.399574509	0.003827908	Unclassified	BrainSpLMD|55164;Eurexp|euxassay_012345|olfactory, submandibular gland primordium, ventricular layer	OMIM|613663
U2	RGS2	0.528551356	0.003829282	GTPase activating protein	BrainSpLMD|5997;Eurexp|euxassay_012997|adrenal gland, floor plate, floorplate, mantle layer, pineal primordium, pituitary	OMIM|600861
U2	NUP155	0.560678484	0.003850913	Transport/cargo protein	BrainSpLMD|9631	OMIM|606694;HPO|9631|Atrial fibrillation, Atrial flutter, Autosomal recessive inheritance
U2	AFMID	0.349789426	0.00387807	Unclassified		
U2	COPS4	0.373704172	0.00393684	Unclassified	BrainSpLMD|51138	OMIM|616008
U2	MRPS33	0.964708021	0.003979222	Ribosomal subunit	BrainSpLMD|51650	OMIM|611993
U2	CNEP1R1	0.797317248	0.003979241	Integral membrane protein	BrainSpLMD|255919	OMIM|616869
U2	MPHOSPH9	0.614099946	0.004102197	Cell cycle control protein	BrainSpLMD|10198	OMIM|605501
U2	FAM111B	0.777933556	0.004114791	Unclassified	BrainSpLMD|374393	OMIM|615584;HPO|374393|Alopecia, Autosomal dominant inheritance, Elevated serum creatine phosphokinase, Hepatomegaly, Hypohidrosis, Poikiloderma, Skeletal muscle atrophy
U2	C5orf24	0.386895931	0.004122596	Unclassified	BrainSpLMD|134553	
U2	WASL	0.636900465	0.004127942	Cytoskeletal associated protein	BrainSpLMD|8976	OMIM|605056
U2	SRP9P1	0.434287042	0.004137022			
U2	CAMK2D	0.542237813	0.004191629	Serine/threonine kinase	BrainSpLMD|817;Eurexp|euxassay_010500|facial VII, glossopharyngeal IX, mantle layer, mesenchyme, olfactory, trigeminal V, vagus X, ventricle, ventricular layer	OMIM|607708
U2	FANCG	0.827591631	0.004200881	DNA repair protein	BrainSpLMD|2189	OMIM|602956;COSMIC||AML, leukaemia;HPO|2189|Abnormality of chromosome stability, Abnormality of the thumb, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukemia, Leukopenia, Microcephaly, Multiple cafe-au-lait spots, Myelodysplasia, Neutropenia, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
U2	IQCG	0.591721894	0.004222096	Unclassified	BrainSpLMD|84223;Eurexp|euxassay_003706|choroid plexus, lateral recess, olfactory, roof plate, ventricular layer	OMIM|612477
U2	DNPH1	0.255630058	0.004251001	Unclassified	BrainSpLMD|10591	
U2	CLCN5	1.672856395	0.004255291	Voltage gated channel	BrainSpLMD|1184;BrainSpMouseDev|12512	OMIM|300008;HPO|1184|Aminoaciduria, Bone pain, Bowing of the legs, Bulging epiphyses, Chronic kidney disease, Delayed epiphyseal ossification, Enlargement of the ankles, Enlargement of the wrists, Femoral bowing, Fibular bowing, Focal segmental glomerulosclerosis, Glomerulosclerosis, Glycosuria, Hypercalciuria, Hyperphosphaturia, Hypophosphatemia, Hypophosphatemic rickets, Increased serum 1,25-dihydroxyvitamin D3, Low-molecular-weight proteinuria, Metaphyseal irregularity, Microscopic hematuria, Nephrocalcinosis, Nephrolithiasis, Osteomalacia, Phenotypic variability, Proximal tubulopathy, Recurrent fractures, Renal insufficiency, Renal phosphate wasting, Rickets, Short stature, Slow progression, Sparse bone trabeculae, Thin bony cortex, Tibial bowing, Tubular atrophy, Tubulointerstitial fibrosis, X-linked recessive inheritance
U2	HP1BP3	0.627444839	0.004323773	DNA binding protein	BrainSpLMD|50809	OMIM|616072
U2	GOT1	0.714308721	0.004345818	Enzyme: Aminotransferase	BrainSpLMD|2805;Eurexp|euxassay_018495|adrenal gland, brain, cortex, diaphragm, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, oral epithelium, spinal cord, stroma, thymus primordium, trigeminal V, vagus X, ventricle, vertebral axis muscle system	OMIM|138180
U2	TMEM64	0.263931458	0.004381916	Integral membrane protein	Eurexp|euxassay_003576|head mesenchyme, testis, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	
U2	BUD31	0.478612466	0.004394891	Transcription regulatory protein	BrainSpLMD|8896	OMIM|603477
U2	GLI2	1.334692264	0.004403822	Transcription factor	BrainSpLMD|2736;Eurexp|euxassay_008920|marginal layer, ventricular layer;BrainSpMouseDev|14409	OMIM|165230;HPO|2736|Abnormal cortical gyration, Abnormal prolactin level, Abnormality of secondary sexual hair, Agenesis of incisor, Amenorrhea, Anophthalmia, Anterior pituitary agenesis, Anterior pituitary hypoplasia, Aplasia/Hypoplasia of the breasts, Autosomal dominant inheritance, Bilateral cleft lip and palate, Cryptorchidism, Decreased circulating ACTH level, Decreased testicular size, Dental malocclusion, Depressed nasal bridge, Depressed nasal ridge, Ectopic posterior pituitary, Fatigue, Global developmental delay, Growth hormone deficiency, Holoprosencephaly, Hydrocephalus, Hypoglycemia, Hypogonadotrophic hypogonadism, Hypopituitarism, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Hypotelorism, Hypotension, Incomplete penetrance, Infertility, Macrotia, Malar flattening, Microcephaly, Micropenis, Microphthalmia, Midface retrusion, Optic nerve hypoplasia, Osteopenia, Panhypopituitarism, Partial agenesis of the corpus callosum, Pituitary hypothyroidism, Postaxial hand polydactyly, Prominent antihelix, Seizures, Short hard palate, Short philtrum, Short stature, Single median maxillary incisor, Single naris, Sporadic, Underdeveloped tragus, Variable expressivity
U2	WDR41	1.33208749	0.004403877	Unclassified	BrainSpLMD|55255	OMIM|617502
U2	FAM122C	0.852086774	0.004466325	Unclassified	BrainSpLMD|159091	
U2	FAM195B	0.35954583	0.004488251			
U2	GCC2	0.388332039	0.00454615	Structural protein	BrainSpLMD|9648	OMIM|612711
U2	PSKH1	0.796034797	0.004548868	Serine/threonine kinase	BrainSpLMD|5681	OMIM|177015
U2	MTR	0.863228705	0.004568866	Enzyme: Methyltransferase	BrainSpLMD|4548	SFARI||Autism, 5 - Hypothesized but untested;OMIM|156570;HPO|4548|Autosomal recessive inheritance, Cerebral atrophy, Decreased methionine synthase activity, Decreased methylcobalamin, Failure to thrive, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Homocystinuria, Hyperhomocystinemia, Hypomethioninemia, Infantile onset, Intellectual disability, Megaloblastic anemia, Poor coordination, Seizures
U2	C9orf142	0.413818324	0.004741583			
U2	ZFPM2	1.591719219	0.004794313	Transcription regulatory protein	BrainSpLMD|23414;Eurexp|euxassay_009941|mantle layer;BrainSpMouseDev|22519	OMIM|603693;HPO|23414|Abnormal nasal morphology, Abnormal sex determination, Abnormality of the labia, Abnormality of the scrotum, Ambiguous genitalia, Autosomal dominant inheritance, Azoospermia, Brachydactyly, Broad forehead, Clinodactyly of the 5th finger, Clitoral hypertrophy, Congenital diaphragmatic hernia, Cryptorchidism, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Dolichocephaly, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,XY karyotype, Fused labia minora, Gonadal dysgenesis, Gynecomastia, Hypergonadotropic hypogonadism, Hypoplasia of the vagina, Hypospadias, Intrauterine growth retardation, Male infertility, Micropenis, Osteoporosis, Preauricular pit, Primary amenorrhea, Proptosis, Sex reversal, Sparse axillary hair, Sparse pubic hair, Streak ovary, Tetralogy of Fallot, Thin vermilion border, Underdeveloped supraorbital ridges, Urogenital sinus anomaly, Vanishing testis
U2	RPE	0.578356831	0.004815313	Enzyme: Epimerase	BrainSpLMD|6120	OMIM|180480
U2	PPP3R1	1.414430248	0.004832766	Regulatory/other subunit		OMIM|601302
U2	LIFR	0.472975507	0.004838297	Cytokine receptor	BrainSpLMD|3977;Eurexp|euxassay_010649|axial muscle, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, orbito-sphenoid, thymus primordium, thyroid, tongue, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16651	OMIM|151443;COSMIC||salivary adenoma;HPO|3977|Abnormal metaphyseal trabeculation, Abnormality of dental enamel, Abnormality of vision, Absent patellar reflexes, Adducted thumb, Apnea, Asthma, Autosomal recessive inheritance, Blotching pigmentation of the skin, Broad ischia, Camptodactyly of finger, Contracture of the proximal interphalangeal joint of the 5th finger, Dysautonomia, Dysphagia, Elbow flexion contracture, Enlarged joints, Episodic fever, Feeding difficulties, Feeding difficulties in infancy, Femoral bowing, Flared metaphysis, Flexion contracture of toe, Frontal bossing, Generalized hypotonia, Genu valgum, Hoarse voice, Hyperhidrosis, Hypohidrosis, Hypoplastic iliac body, Impaired pain sensation, Intrauterine growth retardation, Knee flexion contracture, Lacrimation abnormality, Low-set ears, Malar flattening, Metaphyseal rarefaction, Metaphyseal widening, Micrognathia, Micromelia, Midface retrusion, Myotonia, Nasal speech, Oligohydramnios, Opacification of the corneal stroma, Osteopenia, Osteoporosis, Paresthesia, Pathologic fracture, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Pursed lips, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Short neck, Short nose, Short palpebral fissure, Short phalanx of finger, Short stature, Short tibia, Single transverse palmar crease, Skeletal dysplasia, Smooth tongue, Square face, Talipes, Talipes equinovarus, Talipes valgus, Thickened cortex of long bones, Thin ribs, Thin skin, Tibial bowing, Trismus, Ulnar deviation of finger, Wide nasal base
U2	COA1	0.378006885	0.004868909	Unclassified	BrainSpLMD|55744	OMIM|614769
U2	FUT11	0.328881605	0.004905367	Enzyme: Fucosyltransferase		OMIM|616932
U2	TEX264	0.650717683	0.004968518	Secreted polypeptide	BrainSpLMD|51368	
U2	RPF1	0.389075778	0.004978811	Unclassified	BrainSpLMD|80135;Eurexp|euxassay_007029|embryo	
U2	B3GALTL	0.71070184	0.005151357			
U2	ORC5	0.827170142	0.00519958	DNA binding protein	BrainSpLMD|5001;Eurexp|euxassay_003489|adenohypophysis, dorsal root ganglion, glossopharyngeal IX, incisor, liver, lung, metanephros, midgut, molar, olfactory, pancreas, penis, pharyngo-tympanic tube, respiratory, submandibular gland primordium, testis, thymus primordium, thyroid, trigeminal V, vagus X	OMIM|602331
U2	C1orf86	1.141110704	0.005273308			
U2	MTERFD1	0.850098262	0.005295154			
U2	USP28	0.541612909	0.005304036	Ubiquitin proteasome system protein	BrainSpLMD|57646;Eurexp|euxassay_000568|oesophagus, tongue, vertebral axis muscle system	OMIM|610748
U2	NSUN7	0.639301369	0.005308892	Unclassified	BrainSpLMD|79730;Eurexp|euxassay_008472|choroid invagination, choroid plexus, male, olfactory, roof plate	OMIM|617185
U2	ADNP2	0.331364485	0.005314574	DNA binding protein	BrainSpLMD|22850;BrainSpMouseDev|88720	OMIM|617422
U2	DEGS1	0.757123785	0.005324907	Enzyme: Oxidoreductase	BrainSpLMD|8560;Eurexp|euxassay_002879|dorsal root ganglion, pancreas, ventral grey horn	OMIM|615843
U2	PACSIN2	0.718742284	0.005416053	Adapter molecule	BrainSpLMD|11252	OMIM|604960
U2	IPO5	0.364085389	0.005512809	Transport/cargo protein	BrainSpLMD|3843	OMIM|602008
U2	POLR2M	1.162368505	0.005545951	Unclassified	BrainSpMouseDev|27759	OMIM|606485
U2	BLZF1	0.734185998	0.005548038	Transcription regulatory protein	BrainSpLMD|8548	OMIM|608692
U2	RNF138	0.701260729	0.005573801	Ubiquitin proteasome system protein	BrainSpLMD|51444;Eurexp|euxassay_008413|brain, facial VII, glossopharyngeal IX, incisor, left lung, metanephros, molar, naris, olfactory, pancreas, peripheral nervous system, pharyngo-tympanic tube, primitive seminiferous tubules, retina, right lung, spinal cord, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|616319
U2	TOP3A	0.320116165	0.005575495	Enzyme: Topoisomerase	BrainSpLMD|7156	OMIM|601243
U2	COMMD2	0.352317993	0.005598369	Unclassified	BrainSpLMD|51122	OMIM|616699
U2	TCF7	1.736970795	0.005602995	Transcription factor	BrainSpLMD|6932;BrainSpMouseDev|21175	OMIM|189908
U2	PBDC1	0.32183341	0.005698072	Unclassified	BrainSpLMD|51260	
U2	CCND3	0.281413707	0.00574273	Cell cycle control protein	BrainSpLMD|896	OMIM|123834;COSMIC||MM
U2	ATL2	0.663285981	0.0058398	Unclassified	BrainSpLMD|64225;Eurexp|euxassay_003464|cervical, cervico-thoracic, cortex, facial VII, glossopharyngeal IX, incisor, lobe, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, rectum, respiratory, submandibular gland primordium, testis, thoracic, thymus primordium, thyroid, trigeminal V, urethra, vagus X, ventricular layer, vibrissa	OMIM|609368
U2	RBM7	0.839512037	0.005864897	RNA binding protein	BrainSpLMD|10179	OMIM|612413
U2	NUDT2	0.969987382	0.005943653	Enzyme: Hydrolase	BrainSpLMD|318;Eurexp|euxassay_005082|ventricular layer	OMIM|602852
U2	AGBL5	0.996843671	0.006041118	Unclassified	BrainSpLMD|60509	OMIM|615900;HPO|60509|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Myopia, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Peripheral visual field loss, Photophobia, Progressive night blindness, Sensorineural hearing impairment, Wide nasal bridge
U2	RP11.69L16.5	0.359969347	0.006041275			
U2	TMEM179B	0.89976312	0.006062442	Integral membrane protein	BrainSpLMD|374395	
U2	YEATS4	0.36570385	0.006067445	Transcription factor	BrainSpLMD|8089	OMIM|602116
U2	CHSY1	0.586028368	0.006104828	Enzyme: Glycosyltransferase	BrainSpLMD|22856	OMIM|608183;HPO|22856|Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Brachydactyly, Carpal synostosis, Clinodactyly, Deep philtrum, Diastema, Highly arched eyebrow, Hitchhiker thumb, Microdontia, Short metacarpal, Short metatarsal, Syndactyly, Synophrys, Talon cusp, Tarsal synostosis
U2	RPL41P5	0.578347489	0.00612101			
U2	SMC1A	0.558473606	0.006145346	Cell cycle control protein	BrainSpLMD|8243	SFARI||Autism, No category;OMIM|300040;COSMIC||AML, Cornelia de Lange syndrome;HPO|8243|Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Brachydactyly, Clinodactyly, Clinodactyly of the 5th finger, Cognitive impairment, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downslanted palpebral fissures, Downturned corners of mouth, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hirsutism, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Limited elbow movement, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Narrow forehead, Neurological speech impairment, Obsessive-compulsive behavior, Phthisis bulbi, Poor speech, Premature birth, Prominent nasal bridge, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Smooth philtrum, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Ventriculomegaly, Vesicoureteral reflux, Widely spaced teeth, X-linked dominant inheritance, X-linked recessive inheritance
U2	UBE2L3	0.259584252	0.006160539	Ubiquitin proteasome system protein	BrainSpLMD|7332	OMIM|603721
U2	DCUN1D3	0.835759621	0.006162974	Unclassified	BrainSpLMD|123879;BrainSpMouseDev|87722	OMIM|616167
U2	FBXO33	0.483415349	0.00618377	Ubiquitin proteasome system protein	BrainSpLMD|254170	SFARI||Autism, 4 - Minimal evidence;OMIM|609103
U2	KIF24	1.69145919	0.006185272	Motor protein	BrainSpLMD|347240	OMIM|613747
U2	GORAB	0.327740258	0.006213443	Unclassified	BrainSpLMD|92344	OMIM|607983;HPO|92344|Autosomal recessive inheritance, Beaking of vertebral bodies, Biconcave vertebral bodies, Camptodactyly, Cutis laxa, Deeply set eye, Delayed speech and language development, Femoral bowing, Hip dislocation, Hyperextensibility of the finger joints, Hyperextensible skin, Hypoplasia of the maxilla, Increased susceptibility to fractures, Intellectual disability, Irregular vertebral endplates, Joint hyperflexibility, Malar flattening, Mandibular prognathia, Microcephaly, Muscular hypotonia, Osteopenia, Osteoporosis, Periodontitis, Platyspondyly, Recurrent fractures, Redundant skin, Scoliosis, Severe short stature, Thin skin, Tibial bowing, Vertebral compression fractures, Wormian bones
U2	TOR1A	0.443615506	0.006216766	Chaperone	BrainSpLMD|1861	OMIM|605204;HPO|1861|Abnormal posturing, Abnormality of the voice, Autosomal dominant inheritance, Blepharospasm, Depressivity, Dysarthria, Gait disturbance, Generalized hypotonia, Hyperlordosis, Hypertonia, Kyphosis, Scoliosis, Torsion dystonia, Torticollis, Tremor, Writer's cramp
U2	NFATC3	0.33594042	0.006296292	Transcription factor	BrainSpLMD|4775;BrainSpMouseDev|17788	OMIM|602698
U2	POP5	0.296481242	0.006366178	Ribonuclease	BrainSpLMD|51367;Eurexp|euxassay_014299|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate	OMIM|609992
U2	MAGOH	0.294078836	0.006377246	Cell cycle control protein	BrainSpLMD|4116	OMIM|602603
U2	VAMP3	0.733354499	0.006391422	Integral membrane protein	BrainSpLMD|9341	OMIM|603657
U2	KATNBL1P6	0.932550957	0.006446667			
U2	SRP72	0.261820155	0.006498876	RNA binding protein	BrainSpLMD|6731	OMIM|602122;HPO|6731|Aplastic anemia, Autosomal dominant inheritance, Bone marrow hypocellularity, Hearing impairment, Myelodysplasia
U2	TCTN2	0.707507061	0.00650543	Unclassified	BrainSpLMD|79867;Eurexp|euxassay_000837|4th ventricle, choroid plexus, lateral recess, turbinate bones, ventricular layer	OMIM|613846;HPO|79867|Abdominal distention, Absent speech, Anophthalmia, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Broad forehead, Cataract, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Cleft palate, Cleft upper lip, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Dysmetria, Encephalocele, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Hyperechogenic kidneys, Hypermetropia, Hyperreflexia, Hypertelorism, Infantile onset, Intellectual disability, Lobar holoprosencephaly, Long face, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Pachygyria, Polydactyly, Polymicrogyria, Postaxial foot polydactyly, Postaxial hand polydactyly, Sclerocornea, Short neck, Short nose, Sloping forehead, Spasticity, Talipes, Talipes equinovarus
U2	RECQL	0.527585475	0.006527178	DNA helicase	BrainSpLMD|5965	OMIM|600537
U2	PHF13	0.603025343	0.006587772	Transcription regulatory protein	BrainSpLMD|148479;Eurexp|euxassay_000058|cortex, dorsal root ganglion, lung, trigeminal V, ventricular layer;BrainSpMouseDev|87154	
U2	SKI	1.073523504	0.006594238	Transcription factor	BrainSpLMD|6497	OMIM|164780;COSMIC||melanoma;HPO|6497|Abdominal wall muscle weakness, Abnormality of the pinna, Absent speech, Agenesis of corpus callosum, Anteverted nares, Aortic dilatation, Arachnodactyly, Arnold-Chiari type I malformation, Autism, Autosomal dominant inheritance, Brachycephaly, Brachydactyly, C1-C2 vertebral abnormality, Camptodactyly, Camptodactyly of finger, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Conductive hearing impairment, Constipation, Craniosynostosis, Deeply set eye, Delayed cranial suture closure, Dental malocclusion, Depressed nasal bridge, Depressed nasal ridge, Dislocated radial head, Dolichocephaly, Downslanted palpebral fissures, Dysphagia, EEG abnormality, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Frontal bossing, Gait disturbance, Gastroesophageal reflux, Generalized hypotonia, Genu recurvatum, Global developmental delay, High-grade hypermetropia, Horizontal eyebrow, Hydrocephalus, Hyperextensible skin, Hypertelorism, Hypoplasia of the maxilla, Intellectual disability, Joint contracture of the hand, Joint laxity, Lateral clavicle hook, Long philtrum, Low-set, posteriorly rotated ears, Metaphyseal widening, Metatarsus adductus, Microcephaly, Micrognathia, Midface retrusion, Minimal subcutaneous fat, Mitral valve prolapse, Muscular hypotonia, Myopia, Narrow mouth, Narrow palate, Obstructive sleep apnea, Osteopenia, Pectus carinatum, Pectus excavatum, Pes planus, Pointed chin, Poor speech, Ptosis, Scoliosis, Seizures, Self-injurious behavior, Shallow orbits, Short foot, Sporadic, Stereotypy, Strabismus, Supernumerary ribs, Talipes equinovarus, Telecanthus, Thin ribs, Umbilical hernia, Ventriculomegaly, Wide anterior fontanel, Wide nasal bridge
U2	NFYA	0.411462549	0.006604299	Transcription factor	BrainSpLMD|4800;BrainSpMouseDev|17811	OMIM|189903
U2	UBE2E2	0.497025372	0.006670177	Ubiquitin proteasome system protein	BrainSpLMD|7325	OMIM|602163
U2	SLC30A4	0.894220185	0.006766368	Transport/cargo protein	BrainSpLMD|7782;Eurexp|euxassay_019696|mantle layer	OMIM|602095
U2	GPR180	1.259425283	0.006794181	G protein coupled receptor	BrainSpLMD|160897	OMIM|607787
U2	COPE	0.267920595	0.00695859	Transport/cargo protein	BrainSpLMD|11316	OMIM|606942
U2	XPNPEP3	0.37626958	0.007024418	Unclassified	BrainSpLMD|63929	OMIM|613553;HPO|63929|Autosomal recessive inheritance, Kinetic tremor, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Tubular atrophy, Tubular basement membrane disintegration
U2	C11orf74	0.867498658	0.007103189	Unclassified	BrainSpLMD|119710	
U2	EIF2D	1.391724309	0.007123942	Cell surface receptor	BrainSpLMD|1939	OMIM|613709
U2	TMEM194A	0.910390708	0.007179505			
U2	LYAR	0.44415471	0.007239155	Transcription regulatory protein	BrainSpLMD|55646;Eurexp|euxassay_011091|axial muscle, clavicle, cortex, incisor, lobe, lung, mandible, maxilla, molar, olfactory, pancreas, submandibular gland primordium, testis, thymus primordium, vibrissa	OMIM|617684
U2	MRPS18C	1.111605415	0.007245806	Ribosomal subunit	BrainSpLMD|51023;Eurexp|euxassay_001893|axial skeleton, basisphenoid bone, choroid plexus, lung, mesenchyme, olfactory, orbito-sphenoid, pectoral girdle and thoracic body wall, submandibular gland primordium, trachea, ventricular layer, vestibular component	OMIM|611983
U2	ZEB1	0.29386673	0.007250431	Transcription factor	BrainSpLMD|6935;Eurexp|euxassay_015398|central nervous system, meninges, vertebral axis muscle system;BrainSpMouseDev|21178	OMIM|189909;COSMIC||CCRCC, melanoma;HPO|6935|Autosomal dominant inheritance, Corneal dystrophy, Corneal guttata
U2	APH1A	0.551045273	0.007291184	Integral membrane protein	BrainSpLMD|51107;BrainSpMouseDev|86431	SFARI||Autism, 3 - Suggestive evidence;OMIM|607629
U2	C16orf62	0.491533134	0.007439428	Unclassified	BrainSpLMD|57020	
U2	PPARD	1.497665964	0.007466395	Nuclear receptor	BrainSpLMD|5467;BrainSpMouseDev|18778	OMIM|600409
U2	PDZD8	0.523392376	0.007518551	Unclassified	BrainSpLMD|118987	OMIM|614235
U2	SCLT1	0.687299302	0.007546158	Adapter molecule	BrainSpLMD|132320	OMIM|611399
U2	CTSA	0.655260837	0.00757439	Serine protease	BrainSpLMD|5476	OMIM|613111;HPO|5476|Abnormal vertebral morphology, Autosomal recessive inheritance, Cherry red spot of the macula, Coarse facial features, Conjunctival telangiectasia, Corneal opacity, Decreased beta-galactosidase activity, Dysostosis multiplex, Hearing impairment, Hemangioma, Intellectual disability, Opacification of the corneal stroma, Seizures, Severe short stature, Skeletal dysplasia
U2	ARHGAP5	0.425354749	0.007631434	GTPase activating protein	BrainSpLMD|394	OMIM|602680;COSMIC||colon cancer, glioma
U2	SCOC	0.607371138	0.007643577	Unclassified	BrainSpLMD|60592;Eurexp|euxassay_002885|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X	
U2	NAPA	0.394688484	0.007713413	Adapter molecule	BrainSpLMD|8775	OMIM|603215
U2	BTD	0.466324539	0.007722275	Enzyme: Hydrolase	BrainSpLMD|686	OMIM|609019;HPO|686|Alopecia, Apnea, Ataxia, Autosomal recessive inheritance, Conjunctivitis, Desquamation of skin soon after birth, Diarrhea, Diffuse cerebellar atrophy, Diffuse cerebral atrophy, Feeding difficulties in infancy, Generalized hypotonia, Generalized myoclonic seizures, Global developmental delay, Hearing impairment, Hepatomegaly, Hyperammonemia, Keratoconjunctivitis, Lethargy, Metabolic ketoacidosis, Muscular hypotonia, Optic atrophy, Organic aciduria, Perioral eczema, Recurrent skin infections, Seborrheic dermatitis, Seizures, Sensorineural hearing impairment, Skin rash, Splenomegaly, Tachypnea, Visual loss, Vomiting
U2	RNF19A	0.299826376	0.007739766	Ubiquitin proteasome system protein	BrainSpLMD|25897	OMIM|607119
U2	RALBP1	0.491195943	0.007817271	GTPase activating protein	BrainSpLMD|10928	OMIM|605801
U2	NSF	1.132987589	0.00804637	ATPase	BrainSpLMD|4905;Eurexp|euxassay_004886|brain, dorsal root ganglion, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vibrissa	OMIM|601633
U2	POLR3GL	1.144207457	0.008066264	Unclassified	BrainSpLMD|84265	OMIM|617457
U2	UBE3C	0.405116321	0.00807028	Ubiquitin proteasome system protein	BrainSpLMD|9690	SFARI||Autism, 3 - Suggestive evidence;OMIM|614454
U2	EFNB1	0.944929258	0.008224784	Ligand	BrainSpLMD|1947;Eurexp|euxassay_018017|bladder, cortex, dorsal root ganglion, ductus deferens, incisor, internal capsule, lung, mesenchyme, metanephros, midgut, molar, palatal shelf, phalanx, stomach, sulcus limitans, ventricular layer, vibrissa;BrainSpMouseDev|13419	OMIM|300035;HPO|1947|Abnormality of the dentition, Abnormality of the rib cage, Axillary pterygia, Bifid nasal tip, Brachycephaly, Brachydactyly, Broad hallux, Broad hallux phalanx, Camptodactyly of finger, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Congenital pseudoarthrosis of the clavicle, Coronal craniosynostosis, Craniosynostosis, Cryptorchidism, Depressed nasal ridge, Down-sloping shoulders, Downslanted palpebral fissures, Exotropia, Facial asymmetry, Finger syndactyly, Fragile nails, Frontal bossing, Generalized hypotonia, Global developmental delay, Hand polydactyly, Hemihypotrophy of lower limb, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplastic nasal tip, Hypospadias, Intellectual disability, Joint hyperflexibility, Joint laxity, Low posterior hairline, Microcephaly, Midline defect of the nose, Muscular hypotonia, Nystagmus, Oral cleft, Pectus excavatum, Plagiocephaly, Ridged fingernail, Ridged nail, Sandal gap, Scoliosis, Sensorineural hearing impairment, Shawl scrotum, Short neck, Short stature, Split nail, Sprengel anomaly, Telecanthus, Thickened nuchal skin fold, Toe syndactyly, Umbilical hernia, Unilateral breast hypoplasia, Wide nasal bridge, Widow's peak, Woolly hair, X-linked dominant inheritance
U2	CALM3	0.283864196	0.0083893	Calcium binding protein	BrainSpLMD|808	OMIM|114183;HPO|808|Ventricular tachycardia, Vertigo
U2	HHIP	1.500781426	0.008428708	Integral membrane protein	BrainSpLMD|64399;Eurexp|euxassay_004722|axial skeleton, bladder, clavicle, cranium, femur, fibula, footplate, handplate, lung, mandible, maxilla, midgut, olfactory, otic capsule, palatal shelf, pelvic girdle, pharynx, respiratory, rib, scapula, stomach, tibia, trachea, vibrissa;BrainSpMouseDev|15021	OMIM|606178
U2	SLMAP	0.393347656	0.008450804	Unclassified	BrainSpLMD|7871	OMIM|602701
U2	MANEA	0.516166227	0.008462404	Unclassified	BrainSpLMD|79694	OMIM|612327
U2	RPS26P47	1.238630538	0.008491345			
U2	TAF12	0.260947635	0.008540567	Transcription factor	BrainSpLMD|6883	OMIM|600773
U2	PA2G4	0.299458932	0.008580627	Transcription regulatory protein	BrainSpLMD|5036	OMIM|602145
U2	MT.TS2	0.456078799	0.008633129			
U2	FZD5	1.015169557	0.008633622	G protein coupled receptor	BrainSpLMD|7855;BrainSpMouseDev|14143	OMIM|601723
U2	AC010468.1	0.354119082	0.008784914			
U2	MDC1	0.996453993	0.00878915	DNA repair protein	BrainSpLMD|9656;Eurexp|euxassay_014183|olfactory lobe, ventricular layer	OMIM|607593
U2	KIF27	0.79583332	0.008813773	Motor protein	BrainSpLMD|55582;Eurexp|euxassay_011294|choroid plexus, floor plate, floorplate	OMIM|611253
U2	CLCC1	0.463512822	0.008990098	Ion channel	BrainSpLMD|23155	OMIM|617539
U2	FAM122B	0.836966348	0.009146823	Unclassified	BrainSpLMD|159090;Eurexp|euxassay_002251|axial skeleton, cranium, mesenchyme, pectoral girdle and thoracic body wall, trachea	
U2	PPEF1	2.075652158	0.009196353	Serine/threonine phosphatase	BrainSpLMD|5475;Eurexp|euxassay_013152|dorsal root ganglion, facial VII, trigeminal V	OMIM|300109
U2	PRKG1	0.521270396	0.009369736	Serine/threonine kinase	BrainSpLMD|5592;Eurexp|euxassay_009525|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, hindgut, mantle layer, midgut, stomach, trigeminal V, turbinate bones, ventral grey horn, vestibulocochlear VIII	OMIM|176894;HPO|5592|Abnormality of the iris, Aortic regurgitation, Ascending aortic dissection, Autosomal dominant inheritance, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Dilatation of the thoracic aorta, Exertional dyspnea, Hypertension, Left ventricular failure, Paroxysmal dyspnea
U2	FGFR1OP2	0.501780297	0.009416023	Unclassified	BrainSpLMD|26127;Eurexp|euxassay_012453|thymus primordium	OMIM|608858
U2	RSL24D1	0.617210696	0.009508304	Unclassified	BrainSpLMD|51187	OMIM|613262
U2	GNA13	0.273796912	0.009546995	G protein	BrainSpLMD|10672	OMIM|604406
U2	TXNL4B	0.86191385	0.00958367	Cell cycle control protein	BrainSpLMD|54957	OMIM|617722
U2	SMG1P1	0.361233268	0.009596633			
U2	GAS5	0.468066385	0.009660701			OMIM|608280
U2	TMEM67	0.854545049	0.009723831	Unclassified	BrainSpLMD|91147	OMIM|609884;HPO|91147|Anemia, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Blindness, Breathing dysregulation, Cataract, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cirrhosis, Cleft palate, Coloboma, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Elevated hepatic transaminases, Elongated superior cerebellar peduncle, Encephalocele, Enlarged fossa interpeduncularis, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Heterogeneous, Hyperreflexia, Hypertelorism, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intrahepatic biliary atresia, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Multiple small medullary renal cysts, Muscular hypotonia, Nephronophthisis, Nephropathy, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic nerve coloboma, Polydactyly, Polydipsia, Polyuria, Portal hypertension, Postaxial foot polydactyly, Postaxial hand polydactyly, Ptosis, Renal corticomedullary cysts, Renal insufficiency, Retinal degeneration, Round face, Sclerocornea, Sloping forehead, Spasticity, Splenomegaly, Stage 5 chronic kidney disease, Talipes, Thickened superior cerebellar peduncle, Tubular atrophy, Tubular basement membrane disintegration, Visual impairment, Wide mouth
U4	EIF4A1P8	4.633806172	0			
U4	CTAGE12P	4.606012157	0			
U4	AC005037.1	4.568048404	0			
U4	OR6C75	4.173964922	0	G protein coupled receptor		
U4	DHRS3	4.172451314	0	Enzyme: Dehydrogenase	BrainSpLMD|9249;Eurexp|euxassay_011877|epithelium, fundus region, sublingual gland primordium, urethra, ventricular layer	OMIM|612830
U4	RPS20P31	4.083960472	0			
U4	TNFRSF11B	3.979534531	0	Cytokine	BrainSpLMD|4982	OMIM|602643;HPO|4982|Abnormality of retinal pigmentation, Abnormality of the clavicle, Abnormality of the dentition, Angioid streaks of the retina, Ankylosis, Autosomal recessive inheritance, Barrel-shaped chest, Bowing of the long bones, Cranial hyperostosis, Elevated alkaline phosphatase, Elevated serum acid phosphatase, Hearing impairment, Hydroxyprolinemia, Hydroxyprolinuria, Hyperphosphatemia, Hypertension, Hyperuricemia, Increased bone mineral density, Kyphosis, Macrocephaly, Muscle weakness, Optic atrophy, Osteoporosis, Pectus carinatum, Premature loss of teeth, Progressive, Recurrent fractures, Rough bone trabeculation, Sensorineural hearing impairment, Short stature, Thickened calvaria, Variable expressivity
U4	AP001627.1	3.932527787	0			
U4	RP11.19O2.1	3.912791809	0			
U4	PAPSS2	3.844733796	0	Enzyme: Ligase	BrainSpLMD|9060;Eurexp|euxassay_005940|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, digit 1, digit 2, digit 3, digit 4, digit 5, exoccipital bone, femur, fibula, footplate, handplate, humerus, hyoid bone, naris, nasal septum, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones, valve, vault of skull	OMIM|603005;HPO|9060|Acne, Autosomal recessive inheritance, Bowing of the legs, Brachydactyly, Hirsutism, Irregular vertebral endplates, Kyphoscoliosis, Lower limb undergrowth, Lumbar scoliosis, Platyspondyly, Premature pubarche, Secondary amenorrhea, Short stature, Spondyloepimetaphyseal dysplasia
U4	CTD.2554C21.3	3.822394293	0			
U4	MRPL40P1	3.81986267	0			
U4	CTU2	3.817000993	0	Unclassified		OMIM|617057
U4	GPATCH3	3.795644946	0	Unclassified	BrainSpLMD|63906;Eurexp|euxassay_010966|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, neural retina, right lung, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|617486
U4	ABCD4	3.778462259	0	Transport/cargo protein	BrainSpLMD|5826;Eurexp|euxassay_012296|mantle layer	OMIM|603214;HPO|5826|Abnormal posturing, Anemia, Autosomal recessive inheritance, Congenital onset, Decreased adenosylcobalamin, Feeding difficulties, Generalized hypotonia, Growth delay, Homocystinuria, Hyperhomocystinemia, Inguinal hernia, Lethargy, Methylmalonic acidemia, Methylmalonic aciduria, Neutropenia, Tachypnea, Thrombocytopenia
U4	LINC01314	3.73871377	0			
U4	RN7SKP275	3.736702593	0			
U4	TRUB2	3.674545165	0	Unclassified	BrainSpLMD|26995	OMIM|610727
U4	RP11.315O6.2	3.657435422	0			
U4	RRH	3.647732961	0	G protein coupled receptor	BrainSpLMD|10692	OMIM|605224
U4	UTS2B	3.560633763	0	Ligand	BrainSpLMD|257313	
U4	CPSF4L	3.551534653	0			
U4	AC137932.4	3.548392639	0			
U4	RP11.533E19.3	3.545758322	0			
U4	AC007041.2	3.467950834	0			
U4	PPP1R8P1	3.452595236	0			
U4	CTD.2201E18.1	3.383604664	0			
U4	CCNI2	3.382704889	0	Unclassified		
U4	RP11.232C2.1	3.380222229	0			
U4	SNX32	3.372556377	0	Unclassified	BrainSpLMD|254122	
U4	RP11.104O19.4	3.355453522	0			
U4	TTC21A	3.337517594	0	Unclassified	Eurexp|euxassay_008501|4th ventricle, choroid plexus, olfactory	OMIM|611430
U4	SFRP4	3.333885249	0	Secreted polypeptide	BrainSpLMD|6424;BrainSpMouseDev|20142	OMIM|606570;COSMIC||colorectal cancer, melanoma, SCC, gastric cancer, oesophageal SCC, Pyle disease;HPO|6424|Abnormality of the thorax, Absent paranasal sinuses, Arthralgia, Autosomal recessive inheritance, Carious teeth, Genu valgum, Hypoplastic frontal sinuses, Limited elbow extension, Mandibular prognathia, Metaphyseal dysplasia, Muscle weakness, Platyspondyly, Reduced bone mineral density, Scoliosis, Thickened calvaria
U4	RP11.144N1.1	3.32672778	0			
U4	RP3.402G11.27	3.306017216	0			
U4	RBMX2P3	3.288779495	0			
U4	IKZF3	3.287323071	0	Transcription factor	BrainSpLMD|22806	OMIM|606221
U4	RBMS2P1	3.243248622	0			
U4	RP11.119F7.3	3.238732387	0			
U4	MRPL23	3.219820158	0	Ribosomal subunit	BrainSpLMD|6150;Eurexp|euxassay_007242|calyces, liver, lobe, lung, testis, thymus primordium	OMIM|600789
U4	RP11.77P16.4	3.208667805	0			
U4	MIR5682	3.205405513	0			
U4	ACTG1P14	3.201089579	0			
U4	AC002984.2	3.196911424	0			
U4	CCDC102A	3.189310649	0	Unclassified	BrainSpLMD|92922	
U4	RP5.968P14.2	3.160301967	0			
U4	RP11.301G23.1	3.151376197	0			
U4	CCDC108	3.147588853	0			
U4	TTLL9	3.100722336	0	Unclassified		
U4	LINC01305	3.093183001	0			
U4	MEIS3P1	3.08059551	0			
U4	DRP2	3.074782389	0	Cytoskeletal associated protein	BrainSpLMD|1821	OMIM|300052
U4	RP6.218J18.2	3.070852692	0			
U4	MT.TL1	3.050044442	0			
U4	RP11.794A8.1	3.048012317	0			
U4	AC010150.1	3.039004554	0			
U4	FLJ34503	3.02918939	0			
U4	RP11.275F13.3	3.021778361	0			
U4	PPAPDC1A	3.012486995	0			
U4	NAGLU	3.008412601	0	Enzyme: Hydrolase	BrainSpLMD|4669	OMIM|609701;HPO|4669|Aggressive behavior, Asymmetric septal hypertrophy, Autosomal dominant inheritance, Autosomal recessive inheritance, Cardiomegaly, Coarse facial features, Coarse hair, Dense calvaria, Diarrhea, Distal sensory impairment, Dysostosis multiplex, Hearing impairment, Heparan sulfate excretion in urine, Hepatomegaly, Hirsutism, Hyperactivity, Hyporeflexia, Intellectual disability, Joint stiffness, Juvenile onset, Ovoid thoracolumbar vertebrae, Progressive, Progressive neurologic deterioration, Recurrent upper respiratory tract infections, Seizures, Sleep disturbance, Splenomegaly, Synophrys, Thickened ribs
U4	TAB1	2.98725022	0	Serine/threonine phosphatase	BrainSpLMD|10454	OMIM|602615
U4	TPCN1	2.971776308	0	Voltage gated channel	BrainSpLMD|53373	OMIM|609666
U4	CHAC1	2.967846534	0	Unclassified	BrainSpLMD|79094	OMIM|614587
U4	SAMD15	2.950525997	0	Unclassified		
U4	EIF3KP1	2.945980857	0			
U4	CSNK2A2	2.943878986	0	Serine/threonine kinase	BrainSpLMD|1459;BrainSpMouseDev|12783	OMIM|115442
U4	RPL30P14	2.92249536	0			
U4	LINC00176	2.916924611	0			
U4	KANK1	2.916291729	0	Unclassified	BrainSpLMD|23189;Eurexp|euxassay_008605|alar columns, anterior, aorta, arytenoid, axial skeleton, basioccipital bone, basisphenoid bone, brain, cartilaginous ring, choroid invagination, choroid plexus, cortex, cricoid, epidermis, floor plate, floorplate, footplate, handplate, incisor, mandible, maxilla, mesenchyme, molar, naris, nasal septum, orbito-sphenoid, pelvic girdle, petrous part, rib, roof plate, skeletal muscle, spinal cord, sternum, stomach, submandibular gland primordium, thyroid, trabeculae carneae, turbinate bones, valve, ventricular layer, vibrissa	SFARI||Autism, No category;OMIM|607704;HPO|23189|Autosomal dominant inheritance with maternal imprinting, Cerebral atrophy, Cerebral palsy, Intellectual disability, Muscular hypotonia, Spastic tetraplegia, Ventriculomegaly
U4	PPM1F	2.909040967	0	Serine/threonine phosphatase	BrainSpLMD|9647;Eurexp|euxassay_004441|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	
U4	BACH1.AS1	2.907933865	0			
U4	RPS17P2	2.903268028	0			
U4	BMP2	2.888175473	0	Ligand	BrainSpLMD|650;Eurexp|euxassay_013498|metanephros, vibrissa;BrainSpMouseDev|11942	OMIM|112261;HPO|650|2-3 toe syndactyly, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Autosomal dominant inheritance, Bracket epiphysis of the middle phalanx of the 2nd finger, Bracket epiphysis of the middle phalanx of the 5th finger, Broad hallux, Clinodactyly of the 5th finger, Downslanted palpebral fissures, Epicanthus, Global developmental delay, Hallux valgus, Hypertelorism, Hypoplasia of the maxilla, Macrocephaly, Malar flattening, Medially deviated second toe, Narrow mouth, Radial deviation of the 2nd finger, Short 2nd finger, Short foot, Short hallux, Short middle phalanx of the 5th finger, Short stature, Triangular shaped middle phalanx of the 2nd finger, Triangular shaped middle phalanx of the 5th finger, Type A2 brachydactyly, Ulnar deviation of the 2nd finger, Wolff-Parkinson-White syndrome
U4	LHPP	2.886183366	0	Unclassified	BrainSpLMD|64077	OMIM|617231
U4	CERS4	2.874093002	0	Transcription regulatory protein	BrainSpLMD|79603;Eurexp|euxassay_004762|brain, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, mantle layer, midbrain, naris, olfactory, oral epithelium, respiratory, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|43103	OMIM|615334
U4	RP11.433C9.2	2.868934861	0			
U4	EMC8	2.841895333	0	Unclassified	BrainSpLMD|10328;Eurexp|euxassay_000557|associated mesenchyme, brain, incisor, tooth, ventricular layer	OMIM|604886
U4	MARS2	2.822273673	0	Enzyme: Synthase	BrainSpLMD|92935	OMIM|609728;HPO|92935|Anteverted nares, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Cerebral cortical atrophy, Cognitive impairment, Congenital onset, Depressed nasal bridge, Dysmetria, Dystonia, Feeding difficulties, Gait ataxia, Generalized hypotonia, Global developmental delay, Growth hormone deficiency, Hearing impairment, Horizontal nystagmus, Hyperreflexia, Long philtrum, Low-set ears, Mild hearing impairment, Pectus carinatum, Short nose, Short stature, Spastic ataxia, Spasticity, Wide nasal bridge
U4	MROH1	2.811003344	0	Unclassified		
U4	ATP2A3	2.791240397	0	ATPase	BrainSpLMD|489	OMIM|601929
U4	AC092107.2	2.787406484	0			
U4	LINC00486	2.778511285	0			
U4	BTBD11	2.770527918	0	Unclassified	BrainSpLMD|121551;Eurexp|euxassay_012089|cortex, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, thymus primordium, trigeminal V;BrainSpMouseDev|49848	
U4	USP20	2.764654788	0	Ubiquitin proteasome system protein	BrainSpLMD|10868;Eurexp|euxassay_005695|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X	OMIM|615143
U4	RP11.143A12.3	2.760442586	0			
U4	RP11.214O14.1	2.754800691	0			
U4	BRD7P4	2.750406659	0			
U4	RP1.151F17.1	2.744233939	0			
U4	RP11.973D8.5	2.743659977	0			
U4	FBLIM1	2.734618198	0	Cytoskeletal associated protein	BrainSpLMD|54751	OMIM|607747
U4	PCDHGA5	2.696951079	0	Adhesion molecule		OMIM|606292
U4	RIBC1	2.679297738	0	Unclassified	BrainSpLMD|158787	
U4	RN7SL416P	2.662508855	0			
U4	GLB1L	2.650655173	0	Unclassified	BrainSpLMD|79411	
U4	BMPER	2.636477065	0	Unclassified	BrainSpLMD|168667	OMIM|608699;HPO|168667|Abnormal liver lobulation, Abnormal vertebral segmentation and fusion, Absent in utero ossification of vertebral bodies, Absent in utero rib ossification, Absent or minimally ossified vertebral bodies, Autosomal recessive inheritance, Bell-shaped thorax, Cleft palate, Cystic renal dysplasia, Depressed nasal bridge, Depressed nasal ridge, Disproportionate short-trunk short stature, Enlarged kidney, Enlarged thorax, Epicanthus, Generalized hypotonia, Global developmental delay, Hammertoe, Hypertelorism, Hypoplastic fingernail, Increased nuchal translucency, Inguinal hernia, Intrauterine growth retardation, Large fontanelles, Low-set ears, Lumbosacral meningocele, Micrognathia, Missing ribs, Multiple renal cysts, Muscular hypotonia, Myelomeningocele, Narrow pelvis bone, Nephroblastomatosis, Nephrogenic rest, Oligohydramnios, Polymicrogyria, Protuberant abdomen, Pulmonary hypoplasia, Respiratory distress, Respiratory insufficiency, Short neck, Short nose, Short thorax, Talipes equinovarus, Thoracic hypoplasia, Tracheomalacia, Unossified sacrum, Vertebral segmentation defect, Webbed neck
U4	RP1.224A6.9	2.634882628	0			
U4	STMN1P1	2.633892817	0			
U4	RP11.556O9.3	2.622008825	0			
U4	RP11.175G14.2	2.618303732	0			
U4	PTP4A2P2	2.611574759	0			
U4	PLD1	2.593189763	0	Enzyme: Phosphodiesterase	BrainSpLMD|5337	OMIM|602382;HPO|5337|Arteria lusoria, Autosomal recessive inheritance, Edema, Hydronephrosis, Hydrops fetalis, Hydroureter, Inguinal hernia, Mitral stenosis, Mitral valve prolapse, Patent foramen ovale, Tricuspid regurgitation, Tricuspid valve prolapse, Urethral diverticulum
U4	RMI2	2.585439046	0	Unclassified	BrainSpLMD|116028;Eurexp|euxassay_016062|axial skeleton, bladder, rib	OMIM|612426;COSMIC||PMBL, Hodgkin lymphoma
U4	PCDH15	2.584098905	0	Adhesion molecule	BrainSpLMD|65217	SFARI||Autism, 4 - Minimal evidence;OMIM|605514;HPO|65217|Abnormal electroretinogram, Abnormality of cochlea, Aplasia/Hypoplasia of the cerebellum, Ataxia, Autosomal recessive inheritance, Cataract, Congenital sensorineural hearing impairment, Global developmental delay, Hearing impairment, Hemianopia, High-grade hypermetropia, Infantile onset, Intellectual disability, Iris hypopigmentation, Motor delay, Nyctalopia, Rod-cone dystrophy, Schizophrenia, Scotoma, Sensorineural hearing impairment, Vestibular dysfunction, Vestibular hypofunction, Visual loss
U4	RP11.385F5.5	2.583443846	0			
U4	FHAD1	2.546712683	0	Unclassified	Eurexp|euxassay_005373|4th ventricle, choroid plexus, mantle layer, olfactory, ventral grey horn, ventricular layer	
U4	SCN1A	2.530582036	0	Voltage gated channel	BrainSpLMD|6323;BrainSpMouseDev|20028	SFARI||Autism, 3 - Suggestive evidence;OMIM|182389;HPO|6323|Abnormality of brainstem morphology, Abnormality of movement, Absence seizures, Aggressive behavior, Ataxia, Atonic seizures, Atypical absence seizures, Autistic behavior, Autosomal dominant inheritance, Blindness, Cerebral atrophy, Childhood onset, Cortical visual impairment, Cutaneous photosensitivity, EEG abnormality, EEG with focal sharp slow waves, Encephalopathy, Epileptic encephalopathy, Falls, Febrile seizures, Focal clonic seizures, Focal seizures with impairment of consciousness or awareness, Generalized myoclonic seizures, Generalized tonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Hemiclonic seizures, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Hyperactivity, Infantile onset, Intellectual disability, Mental deterioration, Migraine with aura, Motor delay, Muscular hypotonia, Myoclonus, Neurodevelopmental delay, Nystagmus, Obtundation status, Personality disorder, Photophobia, Postnatal microcephaly, Pschomotor retardation, Seizures, Status epilepticus, Tremor, Variable expressivity
U4	RP11.130C19.3	2.528841655	0			
U4	CHDH	2.52139076	0	Enzyme: Dehydrogenase	BrainSpLMD|55349;Eurexp|euxassay_005323|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V	
U4	TOR2A	2.520157198	0	Unclassified	BrainSpLMD|27433	OMIM|608052
U4	ZNF671	2.500497179	0	DNA binding protein	BrainSpLMD|79891	
U4	MAT2A	2.493874658	0	Enzyme: Adenosyltransferase	BrainSpLMD|4144	OMIM|601468
U4	RP1.20C7.6	2.491770233	0			
U4	PIGO	2.490099437	0	Unclassified	BrainSpLMD|84720;Eurexp|euxassay_000094|clavicle, dorsal root ganglion, lung, metanephros, nucleus pulposus, rib, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|614730;HPO|84720|Anal atresia, Anal stenosis, Autosomal recessive inheritance, Broad hallux, Broad nasal tip, Congenital onset, Delayed speech and language development, Elevated alkaline phosphatase, Generalized hypotonia, Growth delay, Hypertelorism, Intellectual disability, Long palpebral fissure, Short nose, Shortening of all distal phalanges of the fingers, Tented upper lip vermilion, Wide nasal bridge
U4	TPRG1L	2.486991188	0	Unclassified	BrainSpLMD|127262;Eurexp|euxassay_011614|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, vagus X, ventral grey horn, vomeronasal organ	OMIM|611460
U4	RP11.46H11.2	2.486444315	0			
U4	OLIG2	2.483652535	0	Transcription factor	BrainSpLMD|10215;Eurexp|euxassay_007187|basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|30397	OMIM|606386;COSMIC||T-ALL
U4	PCDHB19P	2.482432936	0			
U4	HNRNPA3P11	2.47437783	0			
U4	PIGCP1	2.470092078	0			
U4	SNX31	2.467179617	0	Unclassified	BrainSpLMD|169166;Eurexp|euxassay_009174|anterior, bladder, conjunctival sac, epidermis, footplate, handplate, oesophagus, oral epithelium, pharyngo-tympanic tube, renal/urinary system, stomach	
U4	IGSF9B	2.455738255	0	Unclassified	BrainSpLMD|22997	OMIM|613773
U4	SHD	2.455494502	0	Unclassified	BrainSpLMD|56961	OMIM|610481
U4	ARHGAP26	2.443224121	0	GTPase activating protein	BrainSpLMD|23092;Eurexp|euxassay_016565|mantle layer, olfactory	OMIM|605370;COSMIC||AML, MDS;HPO|23092|Autosomal dominant inheritance, Juvenile myelomonocytic leukemia, Somatic mutation
U4	ORAI3	2.440610656	0	Unclassified	BrainSpLMD|93129;Eurexp|euxassay_007073|embryo	OMIM|610930
U4	SLITRK1	2.437902344	0	Integral membrane protein	BrainSpLMD|114798;Eurexp|euxassay_012158|axial skeleton, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, rib, skeletal muscle, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|52805	OMIM|609678;HPO|114798|Aggressive behavior, Alopecia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Echolalia, Hair-pulling, Motor tics, Multifactorial inheritance, Obsessive-compulsive behavior, Phonic tics, Self-mutilation, Sleep disturbance
U4	RP1.251M9.3	2.432468507	0			
U4	MT.TV	2.423541554	0			
U4	C6orf106	2.416543342	0	Unclassified	BrainSpLMD|64771	OMIM|612217
U4	RXRA	2.41365775	0	Nuclear receptor	BrainSpLMD|6256;Eurexp|euxassay_018386|fundus region, urethra, vibrissa;BrainSpMouseDev|19944	OMIM|180245
U4	GPR108	2.412346706	0	G protein coupled receptor	BrainSpLMD|56927	
U4	PPEF1	2.40647982	0	Serine/threonine phosphatase	BrainSpLMD|5475;Eurexp|euxassay_013152|dorsal root ganglion, facial VII, trigeminal V	OMIM|300109
U4	TMC7	2.401313074	0	Integral membrane protein	BrainSpLMD|79905	OMIM|617198
U4	HGS	2.399625848	0	Adapter molecule	BrainSpLMD|9146;Eurexp|euxassay_003310|basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|604375
U4	GPT2	2.398116294	0	Enzyme: Aminotransferase	BrainSpLMD|84706;Eurexp|euxassay_003194|olfactory, ventricular layer, vertebral axis muscle system	OMIM|138210;HPO|84706|Absent speech, Autosomal recessive inheritance, Drooling, Dysarthria, Encephalopathy, Failure to thrive, Generalized hypotonia, Generalized tonic-clonic seizures, Global developmental delay, Hyperreflexia, Intellectual disability, Postnatal microcephaly, Progressive
U4	TOLLIP	2.397784939	0	Adapter molecule	BrainSpLMD|54472	OMIM|606277
U4	OBSCN	2.394173545	0	Guanine nucleotide exchange factor	BrainSpLMD|84033;Eurexp|euxassay_010159|diaphragm, footplate, rest of mesenchyme, skeletal muscle, vertebral axis muscle system	OMIM|608616
U4	TYW1	2.38817381	0	Unclassified	BrainSpLMD|55253	OMIM|611243
U4	RMDN3	2.371540474	0	Cell cycle control protein	BrainSpLMD|55177	OMIM|611873
U4	ENDOU	2.361421499	0		BrainSpLMD|8909	OMIM|606720
U4	RP11.619L12.4	2.360728277	0			
U4	CHST11	2.355977611	0	Enzyme: Sulphotransferase	BrainSpLMD|50515	OMIM|610128;COSMIC||B-CLL
U4	PKD1L3	2.353671126	0	Ion channel	BrainSpLMD|342372	OMIM|607895
U4	DNAJB2	2.352647475	0	Heat shock protein	BrainSpLMD|3300;Eurexp|euxassay_005046|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	OMIM|604139;HPO|3300|Adult onset, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Distal sensory impairment, Foot dorsiflexor weakness, Gait disturbance, Hyporeflexia, Slow progression, Spinal muscular atrophy, Unsteady gait
U4	FASTKD5	2.350028672	0	Unclassified	Eurexp|euxassay_004980|4th ventricle, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, hepatic duct, liver, lung, metanephros, molar, naris, olfactory, olfactory lobe, respiratory, spinal cord, submandibular gland primordium, thoracic, thymus primordium, thyroid, tongue, trigeminal V, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	OMIM|614272
U4	RP11.158H5.8	2.347438408	0			
U4	WDR37	2.345564476	0	Unclassified	BrainSpLMD|22884;Eurexp|euxassay_007507|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
U4	LIX1	2.343207605	0	Unclassified	BrainSpLMD|167410	OMIM|610466
U4	SLC41A1	2.342753486	0	Membrane transport protein	BrainSpLMD|254428;Eurexp|euxassay_012144|meninges, ventricular layer	OMIM|610801
U4	SLC7A5	2.332428493	0	Transport/cargo protein	BrainSpLMD|8140;Eurexp|euxassay_019697|clavicle, incisor, mesenchyme, testis, vertebral axis muscle system, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|600182
U4	MFSD10	2.32746187	0	Unclassified	BrainSpLMD|10227;Eurexp|euxassay_002092|brain	OMIM|610977
U4	LINC01128	2.321754688	0			
U4	NDST1	2.318313048	0	Enzyme: Deacetylase	BrainSpLMD|3340	OMIM|600853;HPO|3340|Aggressive behavior, Agitation, Autosomal recessive inheritance, Generalized hypotonia, Global developmental delay, Growth delay, Intellectual disability, Poor speech, Sleep disturbance
U4	DENND2A	2.309475755	0	Unclassified		
U4	ZMYND19	2.307308329	0	Unclassified	BrainSpLMD|116225	OMIM|611424
U4	KIAA0556	2.301549874	0	Unclassified		OMIM|616650;HPO|23247|Anteverted nares, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Central hypothyroidism, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Congenital onset, Episodic tachypnea, Feeding difficulties in infancy, Frontal bossing, Gait disturbance, Global developmental delay, Growth hormone deficiency, Hypertelorism, Inferior vermis hypoplasia, Intellectual disability, Long face, Micropenis, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Panhypopituitarism, Ptosis, Recurrent upper respiratory tract infections, Short stature
U4	FZD5	2.295951385	0	G protein coupled receptor	BrainSpLMD|7855;BrainSpMouseDev|14143	OMIM|601723
U4	COPRS	2.295189563	0	Unclassified	BrainSpLMD|55352	
U4	OLIG1	2.293062977	0	Transcription factor	BrainSpLMD|116448;Eurexp|euxassay_007237|mantle layer, marginal layer, olfactory, ventricular layer;BrainSpMouseDev|30398	OMIM|606385
U4	RGP1	2.285653384	0	Unclassified	BrainSpLMD|9827	OMIM|615742
U4	KIF13B	2.284167149	0	Motor protein	BrainSpLMD|23303;Eurexp|euxassay_016533|dorsal root ganglion, glossopharyngeal IX, trigeminal V	SFARI||Autism, No category;OMIM|607350
U4	RP11.204C16.4	2.280234199	0			
U4	BRINP2	2.258451168	0	Unclassified	BrainSpLMD|57795	
U4	ZNF852	2.258317037	0			
U4	LYPD6	2.253680157	0	Unclassified	BrainSpLMD|130574	OMIM|613359
U4	C10orf67	2.244186034	0	Unclassified	BrainSpLMD|256815	
U4	PLLP	2.239736543	0	Integral membrane protein	BrainSpLMD|51090;Eurexp|euxassay_010491|midgut, olfactory, stomach	OMIM|600340
U4	RP11.759F5.1	2.238748933	0			
U4	HSF1	2.235277549	0	Transcription factor	BrainSpLMD|3297;BrainSpMouseDev|15274	OMIM|140580
U4	PELP1	2.234586409	0	Transcription regulatory protein	BrainSpLMD|27043	OMIM|609455
U4	JDP2	2.227598658	0	Transcription factor	BrainSpLMD|122953;Eurexp|euxassay_016441|axial skeleton, dorsal root ganglion, facial VII, femur, glossopharyngeal IX, humerus, mandible, mantle layer, maxilla, neural retina, phalanx, scapula, trigeminal V, vagus X, ventral grey horn;BrainSpMouseDev|57385	OMIM|608657
U4	FANCA	2.224589966	0	DNA binding protein	BrainSpLMD|2175	OMIM|607139;COSMIC||AML, leukaemia;HPO|2175|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of skin pigmentation, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anemia, Anemic pallor, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bruising susceptibility, Cafe-au-lait spot, Chromosomal breakage induced by crosslinking agents, Complete duplication of thumb phalanx, Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Duplicated collecting system, Ectopic kidney, Esophageal atresia, Global developmental delay, Hearing impairment, Horseshoe kidney, Hypergonadotropic hypogonadism, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukemia, Leukopenia, Microcephaly, Microphthalmia, Neutropenia, Pancytopenia, Prolonged G2 phase of cell cycle, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Reticulocytopenia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Small for gestational age, Strabismus, Thrombocytopenia, Tracheoesophageal fistula
U4	CCS	2.21842867	0	Chaperone	BrainSpLMD|9973	OMIM|603864
U4	RPL7AP65	2.217199991	0			
U4	FTO.IT1	2.210668318	0			
U4	RPL39P5	2.209952231	0			
U4	GORASP1	2.209273678	0	Structural protein	BrainSpLMD|64689	OMIM|606867
U4	EFNA5	2.204245461	0	Ligand	BrainSpLMD|1946;BrainSpMouseDev|13418	OMIM|601535
U4	JAK3	2.200675987	0	Tyrosine kinase	BrainSpLMD|3718	OMIM|600173;COSMIC||acute megakaryocytic leukaemia, ETP ALL;HPO|3718|Abnormality of the lymph nodes, Autosomal recessive inheritance, Cutaneous anergy, Diarrhea, Failure to thrive, Intestinal obstruction, Meningitis, Panhypogammaglobulinemia, Pneumonia, Recurrent upper respiratory tract infections, Severe combined immunodeficiency
U4	ZDHHC3	2.200334794	0	Integral membrane protein	BrainSpLMD|51304	OMIM|617150
U4	ABCF3	2.197018135	0	Transport/cargo protein	BrainSpLMD|55324;Eurexp|euxassay_001448|head mesenchyme, limb, mesenchyme, tail, vertebral axis muscle system	
U4	SLC25A39	2.194862711	0	Ion channel	BrainSpLMD|51629;Eurexp|euxassay_019719|adrenal gland, autonomic, axial muscle, cranial, dorsal root ganglion, facial VII, glossopharyngeal IX, gut, hypogastric plexus, incisor, liver, lobe, lumen, mandibular division, maxillary division, metanephros, midgut, molar, nerve plexus, nucleus pulposus, oculomotor III, ophthalmic division, optic II, pancreas, pectoral girdle and thoracic body wall, pelvic girdle, physiological umbilical hernia, renal/urinary system, rib, scapula, skeleton, spleen primordium, submandibular gland primordium, sympathetic, testis, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|610820
U4	AC073283.4	2.1948032	0			
U4	BMP1	2.193349998	0	Metallo protease	BrainSpLMD|649;BrainSpMouseDev|11939	OMIM|112264;HPO|649|Autosomal recessive inheritance, Platyspondyly, Skeletal muscle atrophy, Triangular face
U4	RP3.405J10.2	2.189733987	0			
U4	EYA1	2.178079517	0	Enzyme: Hydrolase	BrainSpLMD|2138	OMIM|601653;HPO|2138|Abnormal dermatoglyphics, Abnormality of the antihelix, Abnormality of the cerebrum, Abnormality of the clavicle, Abnormality of the middle ear ossicles, Abnormality of the renal collecting system, Anteverted nares, Atresia of the external auditory canal, Autosomal dominant inheritance, Bifid uvula, Branchial cyst, Branchial fistula, Cholesteatoma, Cleft palate, Cochlear malformation, Conductive hearing impairment, Congenital hip dislocation, Cupped ear, Delayed skeletal maturation, Depressed nasal bridge, Dilatated internal auditory canal, Down-sloping shoulders, Enlarged cochlear aqueduct, Euthyroid goiter, External ear malformation, Full cheeks, Global developmental delay, Gustatory lacrimation, Hearing impairment, Heterogeneous, High palate, Hyperreflexia, Hypertonia, Hypoplasia of the cochlea, Incomplete partition of the cochlea type II, Incomplete penetrance, Intellectual disability, Intellectual disability, mild, Intestinal malrotation, Long face, Long neck, Low-set ears, Macrotia, Microdontia, Microtia, Mixed hearing impairment, Morphological abnormality of the middle ear, Narrow face, Narrow nose, Neurological speech impairment, Overbite, Polycystic kidney dysplasia, Preauricular pit, Preauricular skin tag, Protruding ear, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia, Renal malrotation, Renal steatosis, Retrognathia, Scapular winging, Sensorineural hearing impairment, Short stature, Stenosis of the external auditory canal, Variable expressivity, Vesicoureteral reflux
U4	RPL7P19	2.171523299	0			
U4	TRIM62	2.170428049	0	Transcription regulatory protein	BrainSpLMD|55223;Eurexp|euxassay_004737|brain, dorsal root ganglion, glossopharyngeal IX, maxilla, neural retina, olfactory, palatal shelf, respiratory, retina, spinal cord, sternum, submandibular gland primordium, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|616755
U4	LRRC4C	2.16766278	0	Integral membrane protein	BrainSpLMD|57689	OMIM|608817
U4	TTC27	2.162398153	0	Unclassified	BrainSpLMD|55622	
U4	TGFA	2.152212711	0	Growth factor	BrainSpLMD|7039;Eurexp|euxassay_011705|associated mesenchyme, basioccipital bone, cartilaginous ring, mantle layer, naris, nasal septum, olfactory, orbital fissure, orbito-sphenoid, petrous part, thyroid, turbinate bones, vomeronasal organ;BrainSpMouseDev|21561	OMIM|190170;HPO|7039|Hypoplasia of the maxilla, Microdontia, Micrognathia, Oligodontia
U4	MSTO1	2.143727493	0	Unclassified	BrainSpLMD|55154;Eurexp|euxassay_018361|mesenchyme, vertebral axis muscle system	OMIM|617619
U4	ANGPTL2	2.143144496	0	Secreted polypeptide	BrainSpLMD|23452;Eurexp|euxassay_007716|aorta, axial skeleton, basioccipital bone, clavicle, diaphragm, footplate, handplate, mandible, maxilla, meninges, mesenchyme, orbito-sphenoid, pelvic girdle, pericardium, rib, sternum, valve, vault of skull;BrainSpMouseDev|26108	OMIM|605001
U4	NCAPH2	2.140751527	0	Unclassified	BrainSpLMD|29781;Eurexp|euxassay_006527|embryo	OMIM|611230
U4	TEP1	2.138949779	0	RNA binding protein	BrainSpLMD|7011	OMIM|601686
U4	DEF8	2.134710505	0	Unclassified	BrainSpLMD|54849	
U4	UBL4A	2.134543982	0	Ubiquitin proteasome system protein	BrainSpLMD|8266;Eurexp|euxassay_003354|olfactory, ventricular layer	OMIM|312070
U4	RPL37P2	2.133205562	0			
U4	NDNL2	2.130822423	0			SFARI||Autism, 4 - Minimal evidence
U4	AC108448.2	2.125023438	0			
U4	SRPR	2.124855701	0			
U4	ERMAP	2.113596311	0	Immunoglobulin	BrainSpLMD|114625;Eurexp|euxassay_005148|liver	OMIM|609017
U4	ZNF41	2.108759751	0	DNA binding protein	BrainSpLMD|7592	OMIM|314995;HPO|7592|Intellectual disability
U4	ALG3	2.107489544	0	Enzyme: Mannosyltransferase	BrainSpLMD|10195	OMIM|608750;HPO|10195|Abnormality of vision, Adducted thumb, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Bifid uvula, Bulbous nose, Cerebellar atrophy, Cerebral atrophy, Clinodactyly of the 5th toe, Decreased light- and dark-adapted electroretinogram amplitude, Depressed nasal bridge, Diarrhea, Epicanthus, Failure to thrive, Food intolerance, Global developmental delay, High palate, Hyperreflexia, Hypertonia, Hypsarrhythmia, Iris coloboma, Joint contracture of the hand, Long fingers, Macrotia, Microcephaly, Muscular hypotonia, Muscular hypotonia of the trunk, Nail dysplasia, Optic atrophy, Seizures, Severe visual impairment, Small nail, Strabismus, Talipes equinovarus, Type I transferrin isoform profile, Villous atrophy, Vomiting, Wide nasal bridge
U4	SNN	2.106282137	0	Unclassified	BrainSpLMD|8303	OMIM|603032
U4	PHF12	2.106128301	0	Transcription regulatory protein	BrainSpLMD|57649	
U4	RP11.754B17.1	2.102590033	0			
U4	RP11.230B22.1	2.099449627	0			
U4	SPATA2	2.099409767	0	Unclassified	BrainSpLMD|9825	OMIM|607662
U4	CTA.390C10.10	2.096082261	0			
U4	SLC6A8	2.095330868	0	Transport/cargo protein	BrainSpLMD|6535	SFARI||Autism, 4 - Minimal evidence;OMIM|300036;HPO|6535|Abnormality of creatine metabolism, Abnormality of metabolism/homeostasis, Aganglionic megacolon, Aggressive behavior, Ataxia, Athetosis, Attention deficit hyperactivity disorder, Autistic behavior, Broad forehead, Cachexia, Chorea, Constipation, Delayed myelination, Delayed speech and language development, Dystonia, Exotropia, Failure to thrive, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Hyperactivity, Hypermetropia, Hypertonia, Hypoplasia of the corpus callosum, Ileus, Impaired social interactions, Infantile onset, Intellectual disability, Joint hypermobility, Long face, Malar flattening, Mandibular prognathia, Microcephaly, Midface retrusion, Motor delay, Muscular hypotonia, Myopathic facies, Narrow face, Neonatal hypotonia, Open mouth, Pes cavus, Poor hand-eye coordination, Ptosis, Seizures, Self-mutilation, Short stature, Spasticity, Stereotypy, Tall stature, Underfolded superior helices, Vomiting, X-linked recessive inheritance
U4	CCDC137	2.089751346	0	Unclassified	BrainSpLMD|339230	OMIM|614271
U4	TTYH1	2.085712427	0	Ion channel	BrainSpLMD|57348;Eurexp|euxassay_018316|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|37048	OMIM|605784
U4	UTRN	2.085654611	0	Anchor protein	BrainSpLMD|7402;Eurexp|euxassay_013991|bladder, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, primitive seminiferous tubules, rectum, stomach, trigeminal V, urethra	SFARI||Autism, No category;OMIM|128240
U4	DCAF13P3	2.084399373	0			
U4	GSR	2.08372993	0	Enzyme: Reductase	BrainSpLMD|2936;Eurexp|euxassay_015904|hindgut, lung, midgut, ventricular layer	OMIM|138300
U4	ZNF547	2.082888269	0	Transcription regulatory protein	BrainSpLMD|284306	
U4	TCTA	2.078543957	0	Unclassified	BrainSpLMD|6988;Eurexp|euxassay_006556|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|600690
U4	SLC1A4	2.078177734	0	Transport/cargo protein	BrainSpLMD|6509;Eurexp|euxassay_019712|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, lung, olfactory, spinal cord, thymus primordium, trigeminal V, vomeronasal organ;BrainSpMouseDev|35249	OMIM|600229;HPO|6509|Autosomal recessive inheritance, Babinski sign, Cerebral atrophy, Congenital onset, Generalized hypotonia, Global developmental delay, Hyperactivity, Hyperreflexia, Hypoplasia of the corpus callosum, Inability to walk, Intellectual disability, Irritability, Progressive microcephaly, Spastic tetraplegia
U4	CHD1L	2.075278382	0	DNA binding protein	BrainSpLMD|9557	OMIM|613039
U4	EHD3	2.070016362	0	Cytoskeletal associated protein	BrainSpLMD|30845;Eurexp|euxassay_003815|adrenal gland, brain, dorsal root ganglion, glossopharyngeal IX, liver, lung, metanephros, otic capsule, spinal cord, trigeminal V, turbinate bones	OMIM|605891
U4	RMND5B	2.066589244	0	Unclassified	BrainSpLMD|64777	
U4	ZFAT	2.065243867	0	Unclassified	BrainSpLMD|57623;Eurexp|euxassay_011513|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|610931
U4	RBMS2	2.050847741	0	RNA binding protein	BrainSpLMD|5939	OMIM|602387
U4	PACSIN2	2.050268961	0	Adapter molecule	BrainSpLMD|11252	OMIM|604960
U4	ITGB5	2.0426372	0	Adhesion molecule	BrainSpLMD|3693	OMIM|147561
U4	RP1.30M3.5	2.041052574	0			
U4	PNN	2.040861035	0	Adhesion molecule	BrainSpLMD|5411;BrainSpMouseDev|18712	OMIM|603154
U4	IFT27	2.03384902	0	GTPase	BrainSpLMD|11020	OMIM|615870;HPO|11020|Abnormal electroretinogram, Autosomal recessive inheritance, External genital hypoplasia, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hyposmia, Intellectual disability, Multicystic kidney dysplasia, Nystagmus, Obesity, Pigmentary retinopathy, Polydactyly, Postaxial hand polydactyly, Renal insufficiency, Rod-cone dystrophy, Short stature
U4	PHKG2	2.025092903	0	Enzyme: Phosphorylase	BrainSpLMD|5261	OMIM|172471;HPO|5261|Autosomal recessive inheritance, Bile duct proliferation, Cirrhosis, Elevated hepatic transaminases, Fasting hypoglycemia, Generalized hypotonia, Growth delay, Hepatomegaly, Hypertriglyceridemia, Infantile onset, Ketosis, Lactic acidosis, Motor delay, Splenomegaly
U4	KATNAL2	2.022917962	0	ATPase;Enzyme: Phosphatase	BrainSpLMD|83473	SFARI||Autism, 1 - High confidence;OMIM|614697
U4	SNRPGP15	2.021082814	0			
U4	NDRG2	2.019729775	0	Enzyme: Hydrolase	BrainSpLMD|57447;Eurexp|euxassay_018237|anterior, choroid plexus, cricoid, dorsal root ganglion, facial VII, femur, glossopharyngeal IX, humerus, mantle layer, naris, nasal septum, otic capsule, phalanx, rectum, rib, sternum, thyroid, trigeminal V, turbinate bones, vagus X, ventricle, ventricular layer, vestibulocochlear VIII	OMIM|605272
U4	GABPB2	2.016180363	0	Unclassified	BrainSpLMD|126626	
U4	NUFIP1	2.015066383	0	RNA binding protein	BrainSpLMD|26747	OMIM|604354
U4	ADPGK	2.009551407	0	Enzyme: Phosphorylase	BrainSpLMD|83440;Eurexp|euxassay_002586|axial muscle, orbito-sphenoid	OMIM|611861
U4	MCAT	2.000763497	0	Enzyme: Acyltransferase	BrainSpLMD|27349	OMIM|614479
U4	LARP6	1.994341442	0	RNA binding protein	BrainSpLMD|55323;Eurexp|euxassay_002800|dorsal root ganglion, facial VII, trigeminal V	OMIM|611300
U4	DCAKD	1.991131658	0	Enzyme: Phosphorylase	BrainSpLMD|79877	
U4	PSKH1	1.988218114	0	Serine/threonine kinase	BrainSpLMD|5681	OMIM|177015
U4	AFG3L2	1.986784914	0	ATPase	BrainSpLMD|10939	OMIM|604581;HPO|10939|Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Cerebellar atrophy, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Dysphagia, Dystonia, Gait ataxia, Gaze-evoked nystagmus, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Increased intramyocellular lipid droplets, Infantile onset, Limb ataxia, Lower limb hyperreflexia, Muscle weakness, Myoclonus, Oculomotor apraxia, Ophthalmoparesis, Progressive, Ptosis, Sensorimotor neuropathy, Skeletal muscle atrophy, Slow progression, Slow saccadic eye movements, Spastic ataxia, Spastic paraparesis, Spasticity, Variable expressivity
U4	INO80	1.985043719	0	DNA binding protein	BrainSpLMD|54617	OMIM|610169
U4	ZSCAN12	1.984100529	0	Unclassified	BrainSpLMD|9753;Eurexp|euxassay_003181|thymus primordium	OMIM|603978
U4	HSP90AB3P	1.982012396	0			
U4	NR3C1	1.974205386	0	Nuclear receptor;Transcription factor	BrainSpLMD|2908;BrainSpMouseDev|14591	OMIM|138040;HPO|2908|Abnormal serum testosterone level, Acne, Adrenal hyperplasia, Autosomal dominant inheritance, Decreased circulating aldosterone level, Fatigue, Hirsutism, Hypertension, Hypoglycemia, Hypokalemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased urinary cortisol level, Metabolic alkalosis, Oligomenorrhea
U4	TUBGCP2	1.97406939	0	Cytoskeletal associated protein	BrainSpLMD|10844;Eurexp|euxassay_000101|cavities and their linings, cerebral cortex, embryo, ventricular layer	
U4	PEX12	1.973664315	0	Integral membrane protein	BrainSpLMD|5193;Eurexp|euxassay_007264|lung, mandible, maxilla, oesophagus	OMIM|601758;HPO|5193|Abnormal bleeding, Abnormal electroretinogram, Abnormal facial shape, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the liver, Abnormality of the palate, Anteverted nares, Areflexia, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, Cataract, Chorioretinal abnormality, Clitoral hypertrophy, Cognitive impairment, Congenital onset, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Death in infancy, Depressed nasal bridge, Depressed nasal ridge, Developmental regression, Dolichocephaly, EEG abnormality, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Generalized neonatal hypotonia, Global developmental delay, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypocholesterolemia, Hyporeflexia, Hypospadias, Intellectual disability, Jaundice, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Malar flattening, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Muscular hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Osteoporosis, Polycystic kidney dysplasia, Polymicrogyria, Polyneuropathy, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Respiratory insufficiency, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Single transverse palmar crease, Skeletal dysplasia, Spasticity, Steatorrhea, Strabismus, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
U4	PDE2A	1.971978285	0	Enzyme: Phosphodiesterase	BrainSpLMD|5138	OMIM|602658
U4	BTBD6	1.964178662	0	Unclassified	BrainSpLMD|90135	
U4	ZFAND2A	1.961062687	0	RNA binding protein	BrainSpLMD|90637	OMIM|610699
U4	ECE1	1.959981348	0	Metallo protease	BrainSpLMD|1889;Eurexp|euxassay_017226|cornea, larynx, naris, oesophagus, olfactory, oral epithelium, pharyngo-tympanic tube, pituitary, submandibular gland primordium, thyroid, trachea, vibrissa	OMIM|600423;HPO|1889|Abdominal pain, Aganglionic megacolon, Agitation, Atrial septal defect, Autosomal dominant inheritance, Bulbous nose, Constipation, Contractures of the interphalangeal joint of the thumb, Cupped ear, Dysautonomia, Hyperconvex nail, Hypertension, Intestinal obstruction, Micropenis, Nausea and vomiting, Patent ductus arteriosus, Posteriorly rotated ears, Prominent nasal bridge, Short nose, Status epilepticus, Tachycardia, Tapered finger, Ventricular septal defect, Weight loss
U4	IGSF21	1.956010412	0	Unclassified	BrainSpLMD|84966;Eurexp|euxassay_006157|cervical, cervico-thoracic, corpus striatum, dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, olfactory, retina, thoracic, trigeminal V	
U4	SPTY2D1	1.952244482	0	Unclassified	BrainSpLMD|144108	
U4	RP11.529E10.6	1.949894788	0			
U4	RP11.357N13.3	1.949557039	0			
U4	AHDC1	1.94859409	0	DNA binding protein;Unclassified	BrainSpLMD|27245	SFARI||Autism, 3 - Suggestive evidence;OMIM|615790;HPO|27245|Autosomal dominant inheritance, Cortical gyral simplification, Delayed myelination, Depressed nasal bridge, Downslanted palpebral fissures, Esotropia, Failure to thrive, Generalized hypotonia, Global developmental delay, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Laryngomalacia, Low-set ears, Micrognathia, Obstructive sleep apnea, Snoring, Uplifted earlobe, Upslanted palpebral fissure
U4	RXRB	1.947411322	0	Nuclear receptor	BrainSpLMD|6257;BrainSpMouseDev|19945	OMIM|180246
U4	FAM57A	1.946396765	0	Membrane transport protein	BrainSpLMD|79850	OMIM|611627
U4	VIM	1.939934687	0	Cytoskeletal protein	BrainSpLMD|7431	OMIM|193060;HPO|7431|Autosomal dominant inheritance, Congenital onset, Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract
U4	SRA1	1.938293061	0	Unclassified	BrainSpLMD|10011	OMIM|603819;HPO|10011|Autosomal dominant inheritance, Autosomal recessive inheritance, Cryptorchidism, Decreased testicular size, Gynecomastia, Hypogonadotrophic hypogonadism, Micropenis, Primary amenorrhea, Sparse axillary hair, Sparse pubic hair
U4	AD000092.3	1.937944274	0			
U4	SMARCAL1	1.934547116	0	Transcription regulatory protein	BrainSpLMD|50485	OMIM|606622;HPO|50485|Abnormal T cell morphology, Abnormal immunoglobulin level, Abnormality of epiphysis morphology, Anemia, Arteriosclerosis, Astigmatism, Autosomal recessive inheritance, Bulbous nose, Cellular immunodeficiency, Coarse hair, Depressed nasal bridge, Disproportionate short-trunk short stature, Fine hair, Focal segmental glomerulosclerosis, Glomerulopathy, High pitched voice, Hip dislocation, Hyperlordosis, Hypermelanotic macule, Hypertension, Hypoplasia of the capital femoral epiphysis, Increased thyroid-stimulating hormone level, Intrauterine growth retardation, Lateral displacement of the femoral head, Lumbar hyperlordosis, Lymphopenia, Melanocytic nevus, Microdontia, Motor delay, Multiple cafe-au-lait spots, Myopia, Nephrotic syndrome, Neutropenia, Opacification of the corneal stroma, Osteopenia, Ovoid vertebral bodies, Platyspondyly, Proteinuria, Protuberant abdomen, Recurrent infections, Renal insufficiency, Shallow acetabular fossae, Short neck, Spondyloepiphyseal dysplasia, Thoracic kyphosis, Thrombocytopenia, Transient ischemic attack, Waddling gait
U4	GIT1	1.929944903	0	GTPase activating protein	BrainSpLMD|28964	OMIM|608434
U4	TMEM44	1.927123898	0	Integral membrane protein;Transport/cargo protein	BrainSpLMD|93109;Eurexp|euxassay_014189|brain, dorsal root ganglion, facial VII, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	
U4	BTN2A1	1.920973648	0	Immunoglobulin	BrainSpLMD|11120	OMIM|613590
U4	KIAA1731	1.920324209	0			
U4	CTDNEP1	1.9103304	0	Integral membrane protein	BrainSpLMD|23399	OMIM|610684
U4	STK10	1.909144699	0	Serine/threonine kinase	BrainSpLMD|6793;Eurexp|euxassay_011746|brain, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, left lung, metanephros, olfactory, right lung, skeletal muscle, spinal cord, trigeminal V, vagus X, ventricle, vertebral axis muscle system, vestibulocochlear VIII	OMIM|603919
U4	SMAP2	1.883007479	0	GTPase activating protein	BrainSpLMD|64744;Eurexp|euxassay_004704|brain, dorsal root ganglion, glossopharyngeal IX, spinal cord, trigeminal V	OMIM|616916
U4	FRMD6	1.882691564	0	Unclassified	BrainSpLMD|122786;Eurexp|euxassay_002791|basal plate, lung, submandibular gland primordium, thymus primordium, vibrissa	OMIM|614555
U4	HSP90AA4P	1.881764368	0			
U4	DNAJB1	1.876800991	0	Heat shock protein	BrainSpLMD|3337	OMIM|604572;COSMIC||fibrolamellar hepatocellular carcinoma
U4	GLE1	1.871662382	0	Transport/cargo protein	BrainSpLMD|2733	OMIM|603371;HPO|2733|Abnormal anterior horn cell morphology, Abnormal cortical bone morphology, Abnormality of the amniotic fluid, Abnormality of the elbow, Abnormality of the hip bone, Abnormality of the ribs, Abnormality of the thorax, Amniotic constriction ring, Amyotrophic lateral sclerosis, Anxiety, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Depressivity, Dyspnea, Edema, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Fetal akinesia sequence, Generalized muscle weakness, Hypertelorism, Hypoplasia of the musculature, Limitation of joint mobility, Low-set ears, Low-set, posteriorly rotated ears, Micrognathia, Muscle cramps, Neonatal death, Neurodegeneration, Pain, Paralysis, Paucity of anterior horn motor neurons, Polyhydramnios, Pulmonary hypoplasia, Recurrent fractures, Respiratory failure, Short neck, Short stature, Skeletal muscle atrophy, Slender long bone, Spasticity, Webbed neck, Widening of cervical spinal canal, Xerostomia
U4	TIMM44	1.866296181	0	Enzyme: Translocase	BrainSpLMD|10469	OMIM|605058
U4	HPX	1.866136552	0	Transport/cargo protein	BrainSpLMD|3263;Eurexp|euxassay_004556|left, right	OMIM|142290
U4	TMEM229B	1.865730288	0	Unclassified	BrainSpLMD|161145	
U4	HEATR2	1.862826369	0			
U4	ANKS6	1.862262571	0	Unclassified	BrainSpLMD|203286	OMIM|615370;HPO|203286|Autosomal recessive inheritance, Cholestasis, Enlarged kidney, Hepatic fibrosis, Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency
U4	TM9SF1	1.859311779	0	Integral membrane protein	BrainSpLMD|10548	
U4	ENDOV	1.857018462	0		BrainSpLMD|284131	
U4	HSPD1P1	1.854707153	0			
U4	C3orf62	1.848713037	0	Unclassified	BrainSpLMD|375341	
U4	SMPD4	1.845275854	0	Integral membrane protein	BrainSpLMD|55627;Eurexp|euxassay_012560|ventricular layer	OMIM|610457
U4	BRMS1	1.844120728	0	Unclassified	BrainSpLMD|25855	OMIM|606259
U4	ACAA1	1.843170347	0	Enzyme: Acyltransferase	BrainSpLMD|30;Eurexp|euxassay_003143|anal canal, basal plate, calyces, chondrocranium, dorsal root ganglion, glossopharyngeal IX, incisor, pancreas, submandibular gland primordium, thymus primordium, trigeminal V, vagus X	OMIM|604054
U4	AC079807.3	1.836989005	0			
U4	AAR2	1.836337605	0	Unclassified	BrainSpLMD|25980	OMIM|617365
U4	ZNF79	1.833360021	0	DNA binding protein	BrainSpLMD|7633	OMIM|194552
U4	TEX261	1.828733399	0	Unclassified	BrainSpLMD|113419;Eurexp|euxassay_002144|testis	
U4	MINPP1	1.827541762	0	Lipid phosphatase	BrainSpLMD|9562;Eurexp|euxassay_006191|liver	OMIM|605391;HPO|9562|Abnormality of metabolism/homeostasis, Abnormality of neck blood vessel, Autosomal dominant inheritance, Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Neoplasm of head and neck, Nodular goiter, Non-medullary thyroid carcinoma
U4	SLC3A2	1.825397434	0	Membrane transport protein	BrainSpLMD|6520;Eurexp|euxassay_007752|incisor, liver, mantle layer, meninges, midgut, molar, submandibular gland primordium, thymus primordium, vibrissa	OMIM|158070
U4	RP11.1033A18.1	1.82375364	0			
U4	TRAPPC9	1.822348454	0	Unclassified	BrainSpLMD|83696	SFARI||Autism, 3 - Suggestive evidence;OMIM|611966;HPO|83696|Abnormality of the cerebellar vermis, Autosomal recessive inheritance, Brachycephaly, Cerebellar hypoplasia, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Congenital hypothyroidism, Congenital stationary night blindness, Downturned corners of mouth, Epicanthus, Generalized myoclonic seizures, Global developmental delay, Horizontal eyebrow, Hyperactivity, Hypertelorism, Hypoplasia of the corpus callosum, Infantile onset, Intellectual disability, Intellectual disability, severe, Large fleshy ears, Malignant hyperthermia, Microcephaly, Multifocal cerebral white matter abnormalities, Muscular hypotonia, Narrow forehead, Obesity, Postnatal microcephaly, Round face, Short neck, Short philtrum, Smooth philtrum, Synophrys, Tapered finger, Thin upper lip vermilion, Underdeveloped supraorbital ridges, Wide nasal bridge
U4	COLGALT2	1.819603611	0	Enzyme: Glycosyltransferase	BrainSpLMD|23127	OMIM|617533
U4	POLR1E	1.81956357	0	Transcription factor	BrainSpLMD|64425	
U4	ALG12	1.818714764	0	Enzyme: Transferase	BrainSpLMD|79087	OMIM|607144;HPO|79087|Abnormality of immune system physiology, Abnormality of the genital system, Abnormality of the pinna, Cognitive impairment, Failure to thrive, Feeding difficulties, Generalized hypotonia, Hypocalcemia, Muscular hypotonia, Progressive microcephaly, Prolonged partial thromboplastin time, Respiratory tract infection, Short philtrum
U4	FBLL1	1.817878345	0			
U4	RING1	1.81772758	0	Transcription regulatory protein	BrainSpLMD|6015	OMIM|602045
U4	RAB31	1.811422336	0	GTPase	BrainSpLMD|11031;Eurexp|euxassay_003248|axial muscle, basal plate, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, submandibular gland primordium, thoracic, trigeminal V, vagus X, vibrissa	OMIM|605694
U4	SGMS1	1.807661656	0	Enzyme: Synthase	BrainSpLMD|259230;Eurexp|euxassay_004662|choroid plexus, lateral recess	OMIM|611573
U4	HSPA1A	1.797049706	0	Chaperone	BrainSpLMD|3303;Eurexp|euxassay_005687|adrenal gland, testis, vibrissa	OMIM|140550
U4	MFSD6	1.793191256	0	Integral membrane protein	BrainSpLMD|54842	OMIM|613476
U4	MAML2	1.792856282	0	Transcription regulatory protein	BrainSpLMD|84441	OMIM|607537;COSMIC||salivary gland mucoepidermoid
U4	DNASE1	1.790789833	0	Deoxyribonuclease	BrainSpLMD|1773	OMIM|125505
U4	DDX19A	1.790386121	0	Unclassified	Eurexp|euxassay_006953|embryo	
U4	PGS1	1.789473842	0	Enzyme: Synthase	BrainSpLMD|9489	OMIM|614942
U4	P2RX7	1.788337557	0	Extracellular ligand gated channel	BrainSpLMD|5027;BrainSpMouseDev|18206	OMIM|602566
U4	CD276	1.788106845	0	Ligand	BrainSpLMD|80381	SFARI||Autism, 4 - Minimal evidence;OMIM|605715
U4	CALM2P2	1.787264092	0			
U4	RPARP.AS1	1.784417762	0			
U4	CTA.211A9.5	1.782372675	0			
U4	PQBP1	1.780741769	0	Transcription regulatory protein	BrainSpLMD|10084	OMIM|300463;HPO|10084|Abnormality of the rib cage, Anal atresia, Anxiety, Arachnodactyly, Atrial septal defect, Blindness, Brachycephaly, Brittle hair, Bulbous nose, Camptodactyly, Cataract, Cerebral atrophy, Cleft palate, Clinodactyly of the 5th finger, Coloboma, Cupped ear, Death in infancy, Decreased testicular size, Dry hair, Epicanthus, Global developmental delay, Hearing impairment, High palate, Hypermetropia, Hyperreflexia, Hypospadias, Intellectual disability, Joint contracture of the hand, Long face, Macroglossia, Macrotia, Malar flattening, Mandibular prognathia, Microcephaly, Micrognathia, Nail dystrophy, Narrow face, Narrow foot, Narrow mouth, Nasal speech, Pectus excavatum, Pes cavus, Phimosis, Poor suck, Protruding ear, Scoliosis, Seizures, Short philtrum, Short stature, Situs inversus totalis, Sparse hair, Sparse lateral eyebrow, Spastic diplegia, Spasticity, Strabismus, Tetralogy of Fallot, Thin upper lip vermilion, Triangular face, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge, X-linked recessive inheritance
U4	ZBTB2	1.778497154	0	Transcription regulatory protein	BrainSpLMD|57621	OMIM|616595
U4	LAMTOR2	1.777369423	0	Unclassified	BrainSpLMD|28956	OMIM|610389;HPO|28956|Autosomal recessive inheritance, Coarse facial features, Hypopigmentation of hair, Hypopigmentation of the skin, IgM deficiency, Immunodeficiency, Neutropenia, Partial albinism, Recurrent bronchopulmonary infections, Short stature
U4	FIBIN	1.773626141	0	Unclassified	BrainSpLMD|387758;Eurexp|euxassay_012586|anterior abdominal wall, axial skeleton, cervical region, cranial muscle, diaphragm, extrinsic ocular muscle, lip, lumbar region, mesenchyme, metatarsus, naris, palatal shelf, phalanx, sacral region, sternum, tarsus, thoracic region, tongue, trachea, vibrissa	OMIM|617085
U4	VPS11	1.770206021	0	Transport/cargo protein	BrainSpLMD|55823	OMIM|608549;HPO|55823|Absent speech, Autosomal recessive inheritance, Central hypotonia, Cerebellar atrophy, Cerebral hypomyelination, Constipation, Cortical visual impairment, Delayed myelination, Developmental stagnation, Dysautonomia, Flexion contracture, Focal seizures with impairment of consciousness or awareness, Hearing impairment, Hypoplasia of the corpus callosum, Intellectual disability, Muscular hypotonia of the trunk, Neurogenic bladder, Optic atrophy, Poor speech, Postnatal microcephaly, Reduced visual acuity, Severe global developmental delay, Spasticity, Temperature instability, Ventriculomegaly
U4	NXF1	1.766563956	0	RNA binding protein	BrainSpLMD|10482	OMIM|602647
U4	UBE3B	1.765771144	0	Ubiquitin proteasome system protein	BrainSpLMD|89910	SFARI||Autism, 5 - Hypothesized but untested;OMIM|608047;HPO|89910|Absent eyebrow, Arachnodactyly, Autosomal recessive inheritance, Bell-shaped thorax, Blepharophimosis, Brachycephaly, Carious teeth, Clinodactyly of the 5th finger, Clitoral hypertrophy, Constipation, Diastema, Epicanthus, Failure to thrive, Feeding difficulties, Flat occiput, Generalized hypotonia, Global developmental delay, Growth delay, High palate, High, narrow palate, Intellectual disability, Laryngeal stridor, Long face, Long foot, Long palm, Metatarsus adductus, Microcephaly, Microcornea, Microdontia, Micrognathia, Muscle flaccidity, Myopia, Narrow face, Narrow palm, Neonatal respiratory distress, Nystagmus, Optic atrophy, Optic disc pallor, Ovoid vertebral bodies, Preauricular skin tag, Ptosis, Respiratory distress, Respiratory failure, Retrognathia, Short nose, Short palpebral fissure, Short philtrum, Single transverse palmar crease, Smooth philtrum, Sparse and thin eyebrow, Specific learning disability, Strabismus, Telecanthus, Thin eyebrow, Thin upper lip vermilion, Thin vermilion border, Upslanted palpebral fissure, Wide mouth
U4	STX16	1.76529792	0	Transport/cargo protein	BrainSpLMD|8675;Eurexp|euxassay_014483|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vestibulocochlear VIII	OMIM|603666;HPO|8675|Autosomal dominant inheritance, Cataract, Delayed eruption of teeth, Depressed nasal bridge, Elevated circulating parathyroid hormone level, Full cheeks, Hyperphosphatemia, Hypocalcemia, Hypoplasia of dental enamel, Low urinary cyclic AMP response to PTH administration, Nystagmus, Pseudohypoparathyroidism, Round face, Short neck, Short stature, Sporadic
U4	LANCL2	1.764371207	0	Unclassified	BrainSpLMD|55915;Eurexp|euxassay_013655|cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, lung, midbrain, neural retina, olfactory, spinal cord, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612919
U4	AHSA1	1.76408136	0	Unclassified	BrainSpLMD|10598	OMIM|608466
U4	GEMIN8	1.761414908	0	Unclassified	BrainSpLMD|54960;Eurexp|euxassay_003013|submandibular gland primordium	OMIM|300962
U4	RP11.512N4.2	1.752332698	0			
U4	RP11.287J9.1	1.750998615	0			
U4	TMEM214	1.750990748	0	Unclassified	BrainSpLMD|54867;Eurexp|euxassay_001501|axial skeleton, chondrocranium, otic capsule, rib	OMIM|615301
U4	TTC31	1.749986476	0	Unclassified	BrainSpLMD|64427	
U4	ALKBH2	1.749544982	0	DNA repair protein	BrainSpLMD|121642	OMIM|610602
U4	PIK3R3	1.749311146	0	Adapter molecule	BrainSpLMD|8503	OMIM|606076
U4	DUSP16	1.747352352	0	Dual specificity phosphatase	BrainSpLMD|80824;Eurexp|euxassay_009768|ventricular layer	OMIM|607175
U4	HMGXB3	1.746360107	0	Unclassified	BrainSpMouseDev|71059	
U4	ROGDI	1.746116887	0	Unclassified	BrainSpLMD|79641;Eurexp|euxassay_003486|calyces, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, trigeminal V, vestibulocochlear VIII	OMIM|614574;HPO|79641|Amelogenesis imperfecta, Ataxia, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral atrophy, Dementia, Developmental regression, EEG abnormality, Epileptic encephalopathy, Hypohidrosis, Hypoplasia of dental enamel, Hypsarrhythmia, Intellectual disability, severe, Seizures, Spasticity, Variable expressivity, Ventriculomegaly, Yellow-brown discoloration of the teeth
U4	RP11.874J12.4	1.745734466	0			
U4	C12orf55	1.744934219	0			
U4	TPM2	1.743575148	0	Cytoskeletal protein	BrainSpLMD|7169	OMIM|190990;HPO|7169|Abnormality of the ear, Abnormality of the hip bone, Absent phalangeal crease, Adducted thumb, Aplasia/Hypoplasia of the radius, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bulbar palsy, Calcaneovalgus deformity, Camptodactyly, Camptodactyly of finger, Centrally nucleated skeletal muscle fibers, Childhood onset, Congenital onset, Decreased fetal movement, Difficulty walking, Dilated cardiomyopathy, Distal arthrogryposis, Downslanted palpebral fissures, Dysphagia, Elbow flexion contracture, Facial diplegia, Facial palsy, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Generalized muscle weakness, Gowers sign, Heterogeneous, High palate, Hyporeflexia, Joint stiffness, Kyphoscoliosis, Limb muscle weakness, Long face, Long philtrum, Lumbar hyperlordosis, Mandibular prognathia, Metatarsus adductus, Micrognathia, Motor delay, Muscular hypotonia, Myopathic facies, Myopathy, Narrow face, Narrow mouth, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Overlapping fingers, Pectus excavatum, Prominent nasolabial fold, Protruding ear, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Reduced tendon reflexes, Reduced vital capacity, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Rocker bottom foot, Round ear, Scapular winging, Scoliosis, Short neck, Short stature, Skeletal muscle atrophy, Talipes, Talipes equinovarus, Tarsal synostosis, Triangular face, Type 1 fibers relatively smaller than type 2 fibers, Type 1 muscle fiber predominance, Ulnar deviation of finger, Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the wrist, Variable expressivity, Vertebral segmentation defect, Waddling gait, Weak cry, Webbed neck, Wide nasal bridge
U4	CREB3L4	1.735099264	0	Transcription factor	BrainSpLMD|148327;BrainSpMouseDev|54124	OMIM|607138
U4	OSBPL9	1.731905286	0	Transport/cargo protein	BrainSpLMD|114883;Eurexp|euxassay_003963|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, trigeminal V	OMIM|606737
U4	NTRK2	1.729458833	0	Receptor tyrosine kinase	BrainSpLMD|4915;BrainSpMouseDev|17979	OMIM|600456;HPO|4915|Autosomal dominant inheritance, Facial asymmetry, Obesity, Polyphagia, Severe global developmental delay, Stereotypy
U4	PLEKHA3	1.728987791	0	Adapter molecule	BrainSpLMD|65977;Eurexp|euxassay_007085|incisor, mandible, maxilla, orbito-sphenoid, rib, submandibular gland primordium, ventricular layer	OMIM|607774
U4	CACNA1C	1.727744339	0	Voltage gated channel	BrainSpLMD|775	SFARI||Autism, No category;OMIM|114205;HPO|775|Atrial fibrillation, Autosomal dominant inheritance, Cutaneous syndactyly, Depressed nasal bridge, Global developmental delay, J wave, Microdontia, Prolonged QT interval, Recurrent infections, Round face, Shortened QT interval, Sudden cardiac death, Sudden death, Syncope, Thin upper lip vermilion, Ventricular arrhythmia
U4	TUBGCP5	1.727220555	0	Cytoskeletal protein	BrainSpLMD|114791	SFARI||Autism, No category;OMIM|608147
U4	FBLN5	1.718260822	0	Extracellular matrix protein	BrainSpLMD|10516;Eurexp|euxassay_002515|aorta, body-wall mesenchyme, cervical region, clavicle, cranium, diaphragm, head mesenchyme, leg, lip, lumbar region, mandible, maxilla, mesenchyme, oesophagus, premaxilla, rib, sacral region, thoracic region, tongue, vibrissa	OMIM|604580;HPO|10516|Abnormality of the face, Aortic aneurysm, Arachnodactyly, Arterial fibromuscular dysplasia, Arterial stenosis, Atelectasis, Autosomal dominant inheritance, Autosomal recessive inheritance, Bladder diverticulum, Bowel diverticulosis, Choroidal neovascularization, Congenital diaphragmatic hernia, Cutis laxa, Delayed cranial suture closure, Dilatation of ascending aorta, Distal sensory impairment, Drusen, Emphysema, Full cheeks, Heterogeneous, Hypertelorism, Ileus, Inguinal hernia, Joint hyperflexibility, Joint laxity, Microcephaly, Mitral regurgitation, Oligohydramnios, Overgrowth, Pectus excavatum, Pes cavus, Premature skin wrinkling, Ptosis, Recurrent respiratory infections, Recurrent urinary tract infections, Redundant skin, Renal diverticulum, Scoliosis, Supravalvular aortic stenosis, Umbilical hernia, Vascular tortuosity
U4	PCDH19	1.717033991	0	Adhesion molecule	BrainSpMouseDev|93556	SFARI||Autism, No category;OMIM|300460;HPO|57526|Absence seizures, Aggressive behavior, Ataxia, Atonic seizures, Cutaneous photosensitivity, EEG abnormality, Febrile seizures, Focal clonic seizures, Focal seizures, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Infantile onset, Intellectual disability, Muscular hypotonia, Neurodevelopmental delay, Obtundation status, Pschomotor retardation, Psychosis, Status epilepticus, Tremor, X-linked inheritance
U4	MED1	1.716464893	0	Transcription regulatory protein	BrainSpLMD|5469	OMIM|604311
U4	ABL1	1.714899709	0	Tyrosine kinase	BrainSpLMD|25;BrainSpMouseDev|11183	OMIM|189980;COSMIC||CML, ALL, T-ALL;HPO|25|Abnormality of basophils, Fatigue, Fever, Leukocytosis, Myeloproliferative disorder, Poor appetite, Splenomegaly, Thrombocytopenia, Thrombocytosis
U4	TNR	1.71250051	0	Extracellular matrix protein	BrainSpLMD|7143;Eurexp|euxassay_012507|mantle layer, tegmentum, ventral grey horn	OMIM|601995
U4	PLAT	1.712399795	0	Serine protease	BrainSpLMD|5327	OMIM|173370;HPO|5327|Autosomal dominant inheritance, Hypercoagulability, Recurrent deep vein thrombosis
U4	BCAN	1.711842069	0	Adhesion molecule	BrainSpLMD|63827;Eurexp|euxassay_018187|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|11818	OMIM|600347
U4	RP11.474P12.3	1.705629084	0			
U4	PISD	1.702816748	0	Enzyme: Decarboxylase	BrainSpLMD|23761;Eurexp|euxassay_002547|brain, dorsal root ganglion, spinal cord	OMIM|612770
U4	PIK3R4	1.702814772	0	Adapter molecule	BrainSpLMD|30849	OMIM|602610
U4	CDC42SE1	1.701376081	0	Unclassified	BrainSpLMD|56882	
U4	XRCC6P4	1.700917038	0			
U4	FNDC5	1.700592633	0	Adhesion molecule	BrainSpLMD|252995;Eurexp|euxassay_011781|skeletal muscle	OMIM|611906
U4	SMARCA5	1.696209342	0	DNA binding protein	BrainSpLMD|8467;Eurexp|euxassay_019564|olfactory	OMIM|603375
U4	SCO1	1.693182875	0	Unclassified	BrainSpLMD|6341;Eurexp|euxassay_014186|submandibular gland primordium	OMIM|603644;HPO|6341|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
U4	FAM111B	1.687605909	0	Unclassified	BrainSpLMD|374393	OMIM|615584;HPO|374393|Alopecia, Autosomal dominant inheritance, Elevated serum creatine phosphokinase, Hepatomegaly, Hypohidrosis, Poikiloderma, Skeletal muscle atrophy
U4	SNX25	1.687595446	0	Transport/cargo protein	BrainSpLMD|83891	
U4	RERE	1.687071889	0	Transcription regulatory protein	BrainSpLMD|473;Eurexp|euxassay_005784|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lung, metanephros, midgut, neural retina, spinal cord, stomach, thoracic, trigeminal V, vagus X, vibrissa;BrainSpMouseDev|44545	SFARI||Autism, 4 - Minimal evidence;OMIM|605226;HPO|473|Absent speech, Agenesis of corpus callosum, Anteverted nares, Autism, Autistic behavior, Autosomal dominant inheritance, Blepharophimosis, Brachycephaly, Brachydactyly, Broad eyebrow, Camptodactyly of finger, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Coloboma, Constipation, Cryptorchidism, Deeply set eye, Delayed cranial suture closure, Depressed nasal bridge, Depressed nasal ridge, Downslanted palpebral fissures, Dysarthria, Dysphagia, EEG abnormality, Epicanthus, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Frontal bossing, Gait disturbance, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, High-grade hypermetropia, Horizontal eyebrow, Hypoplasia of the corpus callosum, Hypospadias, Infantile onset, Intellectual disability, Intrauterine growth retardation, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Microphthalmia, Midface retrusion, Muscular hypotonia, Narrow mouth, Optic atrophy, Pointed chin, Poor speech, Posteriorly rotated ears, Seizures, Self-injurious behavior, Short foot, Short stature, Stereotypy, Strabismus, Ventricular septal defect, Ventriculomegaly, Vesicoureteral reflux, Wide nasal bridge
U4	TRAPPC10	1.685855193	0	Integral membrane protein	BrainSpLMD|7109	OMIM|602103
U4	MRPL28	1.683347568	0	Structural protein	BrainSpLMD|10573;Eurexp|euxassay_003371|olfactory, submandibular gland primordium, ventricular layer	OMIM|604853
U4	SLC25A44	1.682020334	0	Transport/cargo protein	BrainSpLMD|9673	OMIM|610824
U4	PPT2	1.681576388	0	Enzyme: Hydrolase	BrainSpLMD|9374	OMIM|603298
U4	SMO	1.680952205	0	Integral membrane protein	BrainSpLMD|6608;BrainSpMouseDev|106692	OMIM|601500;COSMIC||skin basal cell;HPO|6608|Abnormality of the skin, Agenesis of corpus callosum, Anal stenosis, Aplasia/Hypoplasia of the skin, Basal cell carcinoma, Blepharophimosis, Broad thumb, Coloboma, Craniosynostosis, Cutaneous finger syndactyly, Facial asymmetry, Finger syndactyly, Foot polydactyly, Generalized hirsutism, Global developmental delay, Hypertelorism, Hypopigmented skin patches, Intellectual disability, Microphthalmia, Preaxial hand polydactyly, Somatic mosaicism, Toe syndactyly, Ventriculomegaly
U4	UBE2E2	1.678504201	0	Ubiquitin proteasome system protein	BrainSpLMD|7325	OMIM|602163
U4	GID8	1.677489287	0	Unclassified	BrainSpLMD|54994	OMIM|611625
U4	AF131215.3	1.677474829	0			
U4	SIRT7	1.676795443	0	Enzyme: Deacetylase	BrainSpLMD|51547	OMIM|606212
U4	XPNPEP1	1.668489287	0	Aminopeptidase	BrainSpLMD|7511	OMIM|602443
U4	TMEM56	1.667141902	0	Integral membrane protein	BrainSpLMD|148534;Eurexp|euxassay_012399|liver	
U4	MAP3K3	1.666296291	0	Serine/threonine kinase	BrainSpLMD|4215	OMIM|602539
U4	MTRR	1.664986416	0	Enzyme: Oxidoreductase	BrainSpLMD|4552	OMIM|602568;HPO|4552|Anemia, Autosomal recessive inheritance, Cerebral atrophy, Cerebral cortical atrophy, Decreased methionine synthase activity, Decreased methylcobalamin, Decreased nerve conduction velocity, Failure to thrive, Gait disturbance, Generalized hypotonia, Global developmental delay, Homocystinuria, Hyperhomocystinemia, Hypomethioninemia, Infantile onset, Intellectual disability, progressive, Lethargy, Megaloblastic anemia, Muscular hypotonia, Nystagmus, Respiratory insufficiency, Seizures
U4	GBF1	1.663570051	0	Guanine nucleotide exchange factor	BrainSpLMD|8729	OMIM|603698
U4	RNU1.87P	1.663153104	0			
U4	NEK4	1.661385553	0	Serine/threonine kinase	BrainSpLMD|6787	OMIM|601959
U4	EIF3B	1.657496507	0	Translation regulatory protein	BrainSpLMD|8662	OMIM|603917
U4	PEX26	1.657314145	0	Integral membrane protein	BrainSpLMD|55670	OMIM|608666;HPO|55670|Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the liver, Abnormality of the palate, Anteverted nares, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, Cataract, Chorioretinal abnormality, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Death in infancy, Decreased liver function, Depressed nasal bridge, Developmental regression, Dolichocephaly, EEG abnormality, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized neonatal hypotonia, Global developmental delay, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypospadias, Jaundice, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Muscular hypotonia, Neonatal hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Polymicrogyria, Posterior embryotoxon, Posteriorly rotated ears, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Respiratory insufficiency, Retinal dystrophy, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Skeletal dysplasia, Spasticity, Strabismus, Talipes equinovarus, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
U4	JMJD6	1.653111302	0	Integral membrane protein	BrainSpLMD|23210;Eurexp|euxassay_003150|axial skeleton, chondrocranium, incisor, molar, nasal capsule, submandibular gland primordium, vibrissa	OMIM|604914
U4	ANKRD11	1.651885033	0	Transcription regulatory protein	BrainSpLMD|29123	SFARI||Autism, 2 - Strong candidate;OMIM|611192;HPO|29123|Anteverted nares, Autism, Autosomal dominant inheritance, Cervical ribs, Clinodactyly, Colpocephaly, Cryptorchidism, Delayed skeletal maturation, Frontal bossing, Global developmental delay, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Intellectual disability, moderate, Long palpebral fissure, Long philtrum, Low anterior hairline, Low posterior hairline, Macrodontia, Macrotia, Microcephaly, Micrognathia, Oligodontia, Optic nerve hypoplasia, Periventricular gray matter heterotopia, Pointed chin, Protruding ear, Radial deviation of finger, Rib fusion, Round face, Seizures, Short stature, Single transverse palmar crease, Smooth philtrum, Syndactyly, Telecanthus, Thick eyebrow, Thoracic kyphosis, Triangular face, Underdeveloped nasal alae, Ventriculomegaly, Vertebral arch anomaly, Vertebral fusion, Wide mouth, Widely-spaced maxillary central incisors
U4	WDR91	1.644878412	0	Unclassified	BrainSpLMD|29062	OMIM|616303
U4	RP11.606P2.1	1.64290103	0			
U4	GREB1L	1.642282653	0	Unclassified	BrainSpLMD|80000;Eurexp|euxassay_010815|mantle layer, ventricular layer	OMIM|617782
U4	C7orf49	1.641603429	0	Unclassified	BrainSpLMD|78996	OMIM|616980
U4	NT5DC3	1.639107383	0	Unclassified	BrainSpLMD|51559	OMIM|611076
U4	RP11.214K3.23	1.638675686	0			
U4	MFGE8	1.636858154	0	Adhesion molecule	BrainSpLMD|4240;Eurexp|euxassay_010873|Meckel's cartilage, epithelium, oesophagus, ovary, pharyngo-tympanic tube, stomach, submandibular gland primordium, ventricular layer;BrainSpMouseDev|17073	OMIM|602281
U4	INTS12	1.634879448	0	Transcription regulatory protein	BrainSpLMD|57117	OMIM|611355
U4	ABTB2	1.632698415	0	Translation regulatory protein	BrainSpLMD|25841;Eurexp|euxassay_009127|arytenoid, axial skeleton, cartilaginous ring, cricoid, dorsal root ganglion, femur, fibula, footplate, handplate, mantle layer, marginal layer, medulla, mesenchyme, metatarsus, naris, otic capsule, paraxial mesenchyme, phalanx, primitive seminiferous tubules, rib, sternum, thyroid, tibia, turbinate bones, ventral grey horn, ventricular layer	
U4	STIP1	1.630506636	0	Adapter molecule	BrainSpLMD|10963	OMIM|605063
U4	MUL1	1.622669188	0	Unclassified	BrainSpLMD|79594	OMIM|612037
U4	SMDT1	1.619587088	0	Unclassified	BrainSpLMD|91689;Eurexp|euxassay_006832|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, orbito-sphenoid, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa	OMIM|615588
U4	NUAK2	1.619336896	0	Serine/threonine kinase	BrainSpLMD|81788;Eurexp|euxassay_018510|anterior, cervical, cervico-thoracic, external, left lung, neural retina, olfactory, right lung, thoracic, ventricular layer	OMIM|608131
U4	NSDHL	1.616441245	0	Enzyme: Dehydrogenase	BrainSpLMD|50814	OMIM|300275;HPO|50814|Abnormal cortical bone morphology, Abnormality of digit, Abnormality of the cardiac septa, Abnormality of the nail, Aggressive behavior, Almond-shaped palpebral fissure, Aplasia/hypoplasia of the extremities, Cleft upper lip, Congenital ichthyosiform erythroderma, Delayed speech and language development, Dental crowding, Epicanthus, Epiphyseal stippling, Generalized hypotonia, Global developmental delay, Heterogeneous, High palate, Hydronephrosis, Hyperactivity, Hyperkeratosis, Hyperlordosis, Hypoplastic pelvis, Intellectual disability, Intellectual disability, mild, Irritability, Joint hypermobility, Kyphosis, Long face, Malar flattening, Microcephaly, Micrognathia, Mild intrauterine growth retardation, Narrow face, Pachygyria, Parakeratosis, Polymicrogyria, Posteriorly rotated ears, Prominent nasal bridge, Retrognathia, Scoliosis, Seizures, Single ventricle, Sleep disturbance, Slender build, Strabismus, Umbilical hernia, Upslanted palpebral fissure, X-linked dominant inheritance, X-linked recessive inheritance
U4	USB1	1.616158586	0	Unclassified	BrainSpLMD|79650	OMIM|613276;HPO|79650|Abnormal blistering of the skin, Abnormality of coagulation, Abnormality of female internal genitalia, Abnormality of neutrophils, Abnormality of the fingernails, Abnormality of the pharynx, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Autosomal recessive inheritance, Blepharitis, Bone marrow hypocellularity, Carious teeth, Cellular immunodeficiency, Conjunctivitis, Esophageal stenosis, Global developmental delay, Hyperhidrosis, Hypermelanotic macule, Hypodontia, Hypopigmented skin patches, Intrauterine growth retardation, Malabsorption, Nail dystrophy, Neutropenia, Oral leukoplakia, Periodontitis, Poikiloderma, Recurrent fractures, Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory infections, Rough bone trabeculation, Short stature, Skin ulcer, Sparse hair, Splenomegaly, Taurodontia, Telangiectasia of the skin, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis
U4	RP11.504P24.8	1.613923037	0			
U4	CTD.2024I7.13	1.612766466	0			
U4	STMN3	1.609238356	0	Unclassified	BrainSpLMD|50861;Eurexp|euxassay_018065|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, cochlear component, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, hindgut, hip, humerus, inferior, mantle layer, marginal layer, neural retina, olfactory, orbito-sphenoid, radius, retina, rib, scapula, superior, temporal bone, tibia, trigeminal V, vagus X, ventral grey horn, vestibular component	OMIM|608362
U4	BSN	1.608068427	0	Transcription factor	BrainSpLMD|8927;Eurexp|euxassay_008029|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|604020
U4	ZNF454	1.606995415	0	DNA binding protein	BrainSpLMD|285676	
U4	RP11.574K11.27	1.606985336	0			
U4	UPP1	1.60434826	0	Enzyme: Phosphorylase	BrainSpLMD|7378;Eurexp|euxassay_006779|olfactory	OMIM|191730
U4	DTNB	1.602395352	0	Cytoskeletal protein	BrainSpLMD|1838	OMIM|602415
U4	EMC7	1.602127639	0	Unclassified	BrainSpLMD|56851	
U4	ZER1	1.600783399	0	Unclassified	BrainSpLMD|10444	OMIM|617764
U4	NFIL3	1.597034329	0	Transcription factor	BrainSpLMD|4783;Eurexp|euxassay_002657|diencephalon, dorsal root ganglion, hindbrain, mantle layer, marginal layer, midbrain, pharyngo-tympanic tube, spinal cord, vibrissa;BrainSpMouseDev|17797	OMIM|605327
U4	ANKRD49	1.596190426	0	Transcription regulatory protein	BrainSpLMD|54851	
U4	SLC37A3	1.594432778	0	Membrane transport protein	BrainSpLMD|84255	
U4	ZC3H10	1.593413741	0	RNA binding protein	BrainSpLMD|84872	
U4	DEPDC7	1.591424942	0	Unclassified	BrainSpLMD|91614	OMIM|612294
U4	MTA2	1.590714608	0	Regulatory/other subunit	BrainSpLMD|9219;BrainSpMouseDev|23693	OMIM|603947
U4	SAMD5	1.589867785	0	Unclassified	Eurexp|euxassay_008105|mantle layer, roof plate	
U4	PLP1	1.587741537	0	Structural protein	BrainSpLMD|5354;BrainSpMouseDev|18587	OMIM|300401;HPO|5354|Abnormal pyramidal signs, Abnormality of extrapyramidal motor function, Ataxia, Babinski sign, Bowel incontinence, Cerebral dysmyelination, Choreoathetosis, Degeneration of the lateral corticospinal tracts, Delayed speech and language development, Dysarthria, Dysmetria, Dysphagia, Dystonia, Failure to thrive, Flexion contracture, Generalized hypotonia, Global developmental delay, Head titubation, Hyperreflexia, Infantile onset, Intellectual disability, Juvenile onset, Lower limb muscle weakness, Lower limb spasticity, Microcephaly, Muscle weakness, Muscular hypotonia, Nystagmus, Optic atrophy, Pes cavus, Phenotypic variability, Progressive spastic quadriplegia, Psychomotor deterioration, Reduction of oligodendroglia, Rotary nystagmus, Scanning speech, Short stature, Skeletal muscle atrophy, Slow progression, Spastic gait, Spastic paraparesis, Spastic paraplegia, Spastic/hyperactive bladder, Spinocerebellar tract degeneration, Sudanophilic leukodystrophy, Tremor, X-linked recessive inheritance
U4	FAM109A	1.582209077	0	Unclassified	BrainSpLMD|144717	OMIM|614239
U4	PARP8	1.578789848	0	Unclassified	BrainSpLMD|79668;Eurexp|euxassay_003449|adenohypophysis, bladder, central nervous system, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, heart, hindlimb, incisor, intervertebral disc, limb, liver, lung, metanephros, midgut, molar, neural retina, oesophagus, olfactory, penis, respiratory, stomach, stroma, thymus primordium, tongue, trachea, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, visceral organ	
U4	UBQLN4	1.576192001	0	Ubiquitin proteasome system protein	BrainSpLMD|56893	OMIM|605440
U4	AC006042.8	1.575708386	0			
U4	WAPAL	1.574688874	0			
U4	CTB.31N19.3	1.573774415	0			
U4	OCRL	1.571573497	0	Enzyme: Phosphatase;Enzyme: Phosphohydrolase	BrainSpLMD|4952	SFARI||Autism, No category;OMIM|300535;HPO|4952|Abnormality of calcium-phosphate metabolism, Abnormality of the pupil, Abnormality of the renal tubule, Abnormality of the voice, Aggressive behavior, Amblyopia, Aminoaciduria, Anxiety, Areflexia, Arthritis, Attention deficit hyperactivity disorder, Benign neoplasm of the central nervous system, Bicarbonaturia, Buphthalmos, Camptodactyly of finger, Cataract, Childhood onset, Chronic kidney disease, Clonus, Cognitive impairment, Congenital cataract, Constipation, Cryptorchidism, Deeply set eye, Dehydration, Dense posterior cortical cataract, Depressivity, Dysphasia, EEG abnormality, Elevated amniotic fluid alpha-fetoprotein, Elevated maternal serum alpha-fetoprotein, Elevated serum acid phosphatase, Elevated serum creatine phosphokinase, Failure to thrive, Feeding difficulties in infancy, Fine hair, Finger swelling, Frontal bossing, Full cheeks, Generalized hypopigmentation, Genu valgum, Glaucoma, Global developmental delay, Glomerulopathy, Hip dislocation, Hypercalciuria, Hypercholesterolemia, Hyperparathyroidism, Hyperphosphaturia, Hypokalemia, Hyponatremia, Hypoplasia of dental enamel, Intellectual disability, Joint hyperflexibility, Joint hypermobility, Joint swelling, Kyphosis, Long face, Low-molecular-weight proteinuria, Low-set, posteriorly rotated ears, Microphthalmia, Neonatal hypotonia, Neoplasm of the skin, Nystagmus, Obsessive-compulsive behavior, Osteomalacia, Pathologic fracture, Periventricular cysts, Platyspondyly, Proteinuria, Protruding ear, Proximal renal tubular acidosis, Proximal tubulopathy, Recurrent fractures, Reduced visual acuity, Renal Fanconi syndrome, Renal insufficiency, Rickets, Scoliosis, Seizures, Self-injurious behavior, Short stature, Sparse scalp hair, Stereotypy, Subcutaneous nodule, Thrombocytopenia, Ventriculomegaly, Visual impairment, Vitamin D deficiency, Wrist swelling, X-linked recessive inheritance
U4	C16orf52	1.569632426	0		BrainSpLMD|730094	
U4	RP11.761N21.2	1.568712331	0			
U4	POLR1A	1.568308344	0	RNA polymerase	BrainSpLMD|25885	OMIM|616404;HPO|25885|Abnormality of the cardiac septa, Acetabular dysplasia, Autosomal dominant inheritance, Bilateral choanal atresia, Choanal atresia, Cleft palate, Downslanted palpebral fissures, Femoral bowing, Hypertelorism, Hypoplasia of the maxilla, Macrotia, Microcephaly, Micrognathia, Microtia, Midface retrusion, Patent ductus arteriosus, Prominent nasal bridge, Short palpebral fissure
U4	STK32B	1.566251177	0	Serine/threonine kinase	BrainSpLMD|55351;Eurexp|euxassay_011693|exoccipital bone, fibula, footplate, hip, marginal layer, nasal septum, orbito-sphenoid, otic capsule, petrous part, rib, thyroid, tibia, trachea, turbinate, vault of skull, ventral grey horn	
U4	MICU1	1.566101963	0	Unclassified	BrainSpLMD|10367	OMIM|605084;HPO|10367|Autosomal recessive inheritance, Difficulty running, Difficulty walking, Elevated serum creatine phosphokinase, Motor delay
U4	LYSMD4	1.564809653	0	Integral membrane protein	BrainSpLMD|145748;Eurexp|euxassay_002979|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	
U4	CCDC71L	1.564604885	0		BrainSpLMD|168455	
U4	RPL13P12	1.561306267	0			
U4	TCF25	1.559825967	0	Unclassified	BrainSpLMD|22980;Eurexp|euxassay_011485|cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mandible, mantle layer, maxilla, molar, neural retina, orbito-sphenoid, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, vault of skull, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42698	OMIM|612326
U4	NUP85	1.558859153	0	Anchor protein		OMIM|170285
U4	ZNF589	1.558534331	0	DNA binding protein	BrainSpLMD|51385	OMIM|616702
U4	SAP30L	1.555935131	0	Transcription regulatory protein	BrainSpLMD|79685	OMIM|610398
U4	DHCR7	1.553352311	0	Enzyme: Reductase	BrainSpLMD|1717;Eurexp|euxassay_015508|adrenal gland, neural retina, stroma	SFARI||Autism, No category;OMIM|602858;HPO|1717|2-3 toe syndactyly, Abnormal dermatoglyphics, Abnormal lung lobation, Abnormality of dental morphology, Abnormality of the larynx, Abnormality of the metacarpal bones, Aganglionic megacolon, Aggressive behavior, Ambiguous genitalia, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Atrial septal defect, Atrioventricular canal defect, Attention deficit hyperactivity disorder, Autism, Autosomal recessive inheritance, Bicornuate uterus, Bifid scrotum, Biparietal narrowing, Breech presentation, Broad alveolar ridges, Cataract, Cholestatic liver disease, Cleft palate, Clitoral hypertrophy, Coarctation of aorta, Constipation, Cryptorchidism, Cutaneous photosensitivity, Cutis marmorata, Dandy-Walker malformation, Decreased fetal movement, Dental crowding, Depressed nasal bridge, Eczema, Elevated 7-dehydrocholesterol, Epicanthus, Epiphyseal stippling, Excessive daytime somnolence, Facial capillary hemangioma, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Gastrointestinal dysmotility, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hammertoe, Hearing impairment, Hip dislocation, Hip subluxation, Holoprosencephaly, Hydrocephalus, Hydronephrosis, Hyperactivity, Hypertelorism, Hypertonia, Hypocholesterolemia, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Hypospadias, Increased nuchal translucency, Intellectual disability, Intestinal malrotation, Intrauterine growth retardation, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Metatarsus adductus, Microcephaly, Microglossia, Micrognathia, Micromelia, Micropenis, Muscular hypotonia, Narrow forehead, Nystagmus, Overlapping toe, Patent ductus arteriosus, Periventricular gray matter heterotopia, Polyhydramnios, Poor suck, Postaxial foot polydactyly, Postaxial hand polydactyly, Posteriorly rotated ears, Precocious puberty, Premature birth, Proximal placement of thumb, Ptosis, Pulmonary hypoplasia, Pyloric stenosis, Recurrent infections, Recurrent otitis media, Renal agenesis, Renal cyst, Renal hypoplasia, Scrotal hypoplasia, Seizures, Self-injurious behavior, Self-mutilation, Septate vagina, Severe photosensitivity, Short neck, Short stature, Short thumb, Short toe, Sleep-wake cycle disturbance, Strabismus, Talipes calcaneovalgus, Tracheal stenosis, Ureteropelvic junction obstruction, Ventricular septal defect, Ventriculomegaly, Vomiting, Wide intermamillary distance, Wide mouth, Wide nasal bridge
U4	KIAA1551	1.545259402	0	Unclassified	BrainSpLMD|55196	
U4	RPL14P1	1.543497955	0			
U4	SIK3	1.537498696	0	Unclassified	BrainSpLMD|23387;Eurexp|euxassay_017775|Meckel's cartilage, vibrissa	OMIM|614776
U4	INADL	1.537437008	0			SFARI||Autism, No category
U4	TGIF1	1.537367757	0	Transcription factor	BrainSpLMD|7050;Eurexp|euxassay_007804|cortex, fundus region, hindgut, lung, midgut, oesophagus, rectum, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|21574	OMIM|602630;HPO|7050|Absent nasal septal cartilage, Autosomal dominant inheritance, Depressed nasal bridge, Depressed nasal tip, Hypotelorism, Median cleft lip, Median cleft lip and palate, Ptosis, Semilobar holoprosencephaly
U4	PRICKLE2	1.53487642	0	Unclassified	BrainSpLMD|166336	SFARI||Autism, 3 - Suggestive evidence;OMIM|608501
U4	COG7	1.534196052	0	Structural protein	BrainSpLMD|91949	OMIM|606978;HPO|91949|Abnormality of immune system physiology, Hypertrophic cardiomyopathy, Muscular hypotonia
U4	ZNF622	1.53323151	0	Transcription regulatory protein	BrainSpLMD|90441	OMIM|608694
U4	KLHDC8A	1.531983547	0	Cytoskeletal associated protein	BrainSpLMD|55220;Eurexp|euxassay_006733|cortex, facial VII, glossopharyngeal IX, mantle layer, neural retina, tegmentum, trigeminal V, vagus X	OMIM|614503
U4	CNTNAP4	1.530934259	0	Adhesion molecule	BrainSpLMD|85445;BrainSpMouseDev|81891	SFARI||Autism, 3 - Suggestive evidence;OMIM|610518
U4	BEND7	1.530868783	0	Unclassified	BrainSpLMD|222389	
U4	CTB.181H17.1	1.527737863	0			
U4	DDX56	1.526363908	0	RNA helicase	BrainSpLMD|54606	OMIM|608023
U4	SYT17	1.52606984	0	Calcium binding protein	BrainSpLMD|51760;Eurexp|euxassay_014589|cervical, cervico-thoracic, thoracic, trigeminal V	SFARI||Autism, 4 - Minimal evidence
U4	MAPKBP1	1.523063251	0	Unclassified		OMIM|616786;HPO|23005|Autosomal recessive inheritance, Nephronophthisis, Progressive, Renal cyst, Stage 5 chronic kidney disease, Variable expressivity
U4	SYCP3	1.522566698	0	Cell cycle control protein	BrainSpLMD|50511	OMIM|604759;HPO|50511|Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Autosomal recessive inheritance, Azoospermia, Decreased testicular size, Increased circulating gonadotropin level, Non-obstructive azoospermia, Obstructive azoospermia, Recurrent spontaneous abortion
U4	NAIF1	1.522195562	0	Unclassified	BrainSpLMD|203245	OMIM|610673
U4	ANP32B	1.521684498	0	Unclassified	BrainSpLMD|10541;Eurexp|euxassay_006714|embryo	
U4	SLC26A2	1.517026127	0	Transport/cargo protein	BrainSpLMD|1836;Eurexp|euxassay_008150|basioccipital bone, basisphenoid bone, cervical region, clavicle, exoccipital bone, fibula, lumbar region, mandible, metatarsus, nasal septum, orbito-sphenoid, otic capsule, petrous part, rib, sacral region, stomach, tarsus, thoracic region, thyroid, tibia, trachea, turbinate	OMIM|606718;HPO|1836|Abdominal distention, Abnormal enchondral ossification, Abnormal form of the vertebral bodies, Abnormality of epiphysis morphology, Abnormality of metabolism/homeostasis, Abnormality of the clavicle, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the patella, Abnormality of the ribs, Absent or minimally ossified vertebral bodies, Anteverted nares, Aplasia/Hypoplasia of the lungs, Arthralgia, Autosomal recessive inheritance, Blue sclerae, Bowing of the long bones, Brachydactyly, Breech presentation, Camptodactyly of finger, Cervical kyphosis, Cleft palate, Clinodactyly of the 5th finger, Coronal cleft vertebrae, Costal cartilage calcification, Cystic lesions of the pinnae, Depressed nasal bridge, Disproportionate short stature, Disproportionate short-limb short stature, Dumbbell-shaped femur, Edema, Epiphyseal dysplasia, Femoral hernia, Flat acetabular roof, Flat capital femoral epiphysis, Flat face, Flattened epiphysis, Frontal bossing, Full cheeks, Glabellar hemangioma, Hearing impairment, Hip contracture, Hip dysplasia, Hitchhiker thumb, Hoarse voice, Horizontal sacrum, Hydrops fetalis, Hypertelorism, Hypertrophic auricular cartilage, Hypoplasia of the femoral head, Hypoplastic cervical vertebrae, Hypoplastic ilia, Increased bone mineral density, Inguinal hernia, Intrauterine growth retardation, Irregular epiphyses, Joint stiffness, Kyphoscoliosis, Kyphosis, Large earlobe, Laryngotracheal stenosis, Lethal skeletal dysplasia, Limited elbow flexion, Long philtrum, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Macrocephaly, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Multiple epiphyseal dysplasia, Muscular hypotonia, Narrow chest, Neonatal short-limb short stature, Osteoarthritis, Overfolded helix, Platyspondyly, Polyhydramnios, Proximal placement of thumb, Pulmonary hypoplasia, Recurrent respiratory infections, Respiratory insufficiency, Sandal gap, Scoliosis, Severe short stature, Short finger, Short foot, Short long bone, Short metacarpal, Short middle phalanx of finger, Short neck, Short nose, Short ribs, Short sacroiliac notch, Short stature, Short thorax, Small hand, Spinal cord compression, Stillbirth, Symphalangism affecting the phalanges of the hand, Talipes equinovarus, Thickened nuchal skin fold, Thoracic hypoplasia, Ulnar deviation of finger, Umbilical hernia
U4	SLC7A2	1.516705369	0	Membrane transport protein	BrainSpLMD|6542;Eurexp|euxassay_019684|adrenal gland, lens, mandible, maxilla, ovary, trachea, turbinate bones	OMIM|601872
U4	ZNF106	1.514844565	0	DNA binding protein	BrainSpLMD|64397;Eurexp|euxassay_010261|skeletal muscle, vertebral axis muscle system	
U4	PUF60	1.514559273	0	RNA binding protein	BrainSpLMD|22827	OMIM|604819;HPO|22827|Abnormality of the cardiac septa, Autosomal dominant inheritance, Cerebral atrophy, Clinodactyly, Coloboma, Congenital onset, Feeding difficulties, Global developmental delay, Hemivertebrae, Hip dislocation, Long philtrum, Microcephaly, Narrow forehead, Phenotypic variability, Renal agenesis, Renal cyst, Renal hypoplasia, Scoliosis, Short 5th finger, Short neck, Short nose, Short stature, Thin upper lip vermilion, Vertebral fusion, Wide nasal bridge
U4	ZNF335	1.514172477	0	Transcription regulatory protein	BrainSpLMD|63925	OMIM|610827;HPO|63925|Abnormal neuron morphology, Abnormality of the cerebellum, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Brain atrophy, Cataract, Cerebellar atrophy, Cerebral atrophy, Choanal atresia, Congenital onset, Cortical gyral simplification, Delayed myelination, Gliosis, Intrauterine growth retardation, Microcephaly, Micrognathia, Profound global developmental delay, Prominent nasal bridge, Severe global developmental delay, Sloping forehead, Small cerebral cortex, Small for gestational age, Spasticity, Ventriculomegaly
U4	AP3D1	1.513518227	0	Transport/cargo protein	BrainSpLMD|8943	OMIM|607246;HPO|8943|Autosomal recessive inheritance, Cerebral atrophy, Delayed myelination, Dystonia, EEG abnormality, Feeding difficulties, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Hepatomegaly, Hypotelorism, Immunodeficiency, Infantile onset, Interstitial pulmonary abnormality, Low-set ears, Macrotia, Microcephaly, Muscular hypotonia of the trunk, Neutropenia, Nystagmus, Ocular albinism, Recurrent respiratory infections, Retrognathia, Smooth philtrum, Splenomegaly
U4	POLE	1.51288709	0	DNA polymerase	BrainSpLMD|5426	OMIM|174762;COSMIC||colorectal carcinoma, endometrioid carcinoma, stomach carcinoma, skin cancer, colorectal cancer susceptibility, FILS syndrome;HPO|5426|Abnormal facial shape, Autosomal recessive inheritance, Broad forehead, Congenital onset, Immunodeficiency, Malar flattening, Recurrent respiratory infections, Relative macrocephaly, Short stature, Telangiectases of the cheeks
U4	ASTE1	1.509628382	0	Unclassified	BrainSpLMD|28990	
U4	TOMM40L	1.505007583	0	Unclassified	BrainSpLMD|84134	
U4	TMEM194B	1.503395348	0			
U4	PI4KB	1.501693107	0	Lipid Kinase	BrainSpLMD|5298;Eurexp|euxassay_012081|vertebral axis muscle system	OMIM|602758
U4	RPS11P5	1.50056879	0			
U4	FTSJ2	1.495162698	0			
U4	EYA3	1.493749015	0	Tyrosine phosphatase	BrainSpLMD|2140	OMIM|601655
U4	CTB.131K11.1	1.490272032	0			
U4	RNPEP	1.488996439	0	Aminopeptidase	BrainSpLMD|6051	OMIM|602675
U4	ERAP1	1.487299499	0	Aminopeptidase	BrainSpLMD|51752;Eurexp|euxassay_002116|thymus primordium	OMIM|606832;HPO|51752|Abdominal pain, Abnormal blistering of the skin, Acne, Arthralgia, Arthritis, Confusion, Fatigue, Fever, Gait disturbance, Gastrointestinal hemorrhage, Hemiparesis, Immunologic hypersensitivity, Meningitis, Migraine, Myalgia, Nausea and vomiting, Oral ulcer, Orchitis, Papule, Photophobia, Recurrent aphthous stomatitis, Subcutaneous nodule, Vasculitis, Venous thrombosis
U4	CTDSPL	1.483011405	0	Enzyme: Phosphatase	BrainSpLMD|10217	OMIM|608592
U4	CPPED1	1.481910741	0	Unclassified	BrainSpLMD|55313	OMIM|615603
U4	RP1.179N16.3	1.481643876	0			
U4	GSTM4	1.480112952	0	Enzyme: Glutathione transferase	BrainSpLMD|2948;Eurexp|euxassay_018671|olfactory, testis	OMIM|138333
U4	CCDC136	1.479593847	0	Unclassified	BrainSpLMD|64753	OMIM|611902
U4	TXNDC11	1.475247015	0	Unclassified	BrainSpLMD|51061	OMIM|617792
U4	CLK3	1.475079913	0	Dual specificity kinase	BrainSpLMD|1198;Eurexp|euxassay_004643|dorsal root ganglion, mandible, maxilla, neural retina, orbito-sphenoid, rib, stroma, trigeminal V	OMIM|602990
U4	DACH2	1.472527565	0	Transcription factor;Cell cycle control protein	BrainSpLMD|117154;Eurexp|euxassay_009795|basal columns, bladder, ear, mantle layer, marginal layer, medullary stroma, renal/urinary system, tegmentum, urachus;BrainSpMouseDev|60489	OMIM|300608
U4	RP11.96K19.4	1.472370046	0			
U4	SGK1	1.469012231	0	Serine/threonine kinase	BrainSpLMD|6446;Eurexp|euxassay_010543|adrenal gland, choroid invagination, choroid plexus, left lung, lip, medullary stroma, mesenchyme, right lung, roof plate, vibrissa;BrainSpMouseDev|20156	OMIM|602958;COSMIC||Nodular lymphocyte predominant Hodgkin lymphoma
U4	RP11.274B21.9	1.466072862	0			
U4	LEPREL2	1.464485761	0			
U4	SPG7	1.462218487	0	Metallo protease	BrainSpLMD|6687	OMIM|602783;HPO|6687|Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Cerebellar atrophy, Cerebral cortical atrophy, Degeneration of the lateral corticospinal tracts, Dysarthria, Dysphagia, Gait ataxia, Hyperreflexia, Impaired vibration sensation in the lower limbs, Lower limb muscle weakness, Lower limb spasticity, Memory impairment, Nystagmus, Optic atrophy, Pes cavus, Scoliosis, Spastic gait, Spastic paraplegia, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
U4	NDUFAF5	1.459615204	0	Unclassified	BrainSpLMD|79133	OMIM|612360;HPO|79133|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
U4	PPP1R15A	1.459165608	0	Cell cycle control protein	BrainSpLMD|23645	OMIM|611048
U4	RP11.103B5.2	1.457672405	0			
U4	EPS15L1	1.45050044	0	Calcium binding protein	BrainSpLMD|58513	OMIM|616826
U4	MKS1	1.449318961	0	Unclassified	BrainSpLMD|54903	OMIM|609883;HPO|54903|Abnormal electroretinogram, Abnormality of the cardiac septa, Abnormality of the larynx, Abnormality of the ureter, Abnormality of the uterus, Accessory spleen, Adrenal hypoplasia, Agenesis of corpus callosum, Ambiguous genitalia, female, Ambiguous genitalia, male, Anal atresia, Anencephaly, Aplasia/Hypoplasia of the iris, Apnea, Arnold-Chiari malformation, Asplenia, Ataxia, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Bowing of the long bones, Breech presentation, Cataract, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral hypoplasia, Chorioretinal abnormality, Cleft palate, Cleft upper lip, Clinodactyly, Coarctation of aorta, Congenital hepatic fibrosis, Cryptorchidism, Dandy-Walker malformation, Depressed nasal ridge, Elevated amniotic fluid alpha-fetoprotein, Encephalocele, Episodic tachypnea, External genital hypoplasia, Feeding difficulties, Feeding difficulties in infancy, Foot polydactyly, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Hydrocephalus, Hypertelorism, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the bladder, Hypoplasia of the ovary, Hypotelorism, Intellectual disability, Intestinal malrotation, Intrauterine growth retardation, Iris coloboma, Large placenta, Lobar holoprosencephaly, Lobulated tongue, Long face, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Muscular hypotonia, Natal tooth, Nystagmus, Obesity, Occipital encephalocele, Oculomotor apraxia, Olfactory lobe agenesis, Oligohydramnios, Omphalocele, Optic atrophy, Patent ductus arteriosus, Pigmentary retinopathy, Polycystic kidney dysplasia, Polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Pulmonary hypoplasia, Radial deviation of finger, Renal agenesis, Retinal dystrophy, Rod-cone dystrophy, Sclerocornea, Short neck, Short stature, Single umbilical artery, Sloping forehead, Splenomegaly, Syndactyly, Talipes, Webbed neck, Wide mouth
U4	PTPN21	1.449219373	0	Tyrosine phosphatase	BrainSpLMD|11099	OMIM|603271
U4	DUSP14	1.447074896	0	Dual specificity phosphatase	BrainSpLMD|11072;Eurexp|euxassay_018551|choroid plexus, floor plate, floorplate, mantle layer, metanephros, olfactory, submandibular gland primordium, thymus primordium, urethra, ventral grey horn;BrainSpMouseDev|35685	OMIM|606618
U4	ZNF470	1.444486738	0	Transcription regulatory protein	BrainSpLMD|388566	
U4	CTD.2287O16.1	1.434180712	0			
U4	LHFPL2	1.433919138	0	Unclassified	BrainSpLMD|10184	OMIM|609718
U4	OTULIN	1.432680931	0	Unclassified	BrainSpLMD|90268	OMIM|615712;HPO|90268|Arthralgia, Autosomal recessive inheritance, Failure to thrive, Joint swelling, Leukocytosis, Lipodystrophy, Lymphadenopathy, Myalgia, Neutrophilia
U4	TARS2	1.43220302	0	Enzyme: Ligase	BrainSpLMD|80222	OMIM|612805;HPO|80222|Autosomal recessive inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hypoplasia of the corpus callosum, Increased serum lactate, Limb hypertonia, Muscular hypotonia of the trunk
U4	SETMAR	1.429737177	0	Unclassified	BrainSpLMD|6419	OMIM|609834
U4	CYP2U1	1.429355925	0	Enzyme: Hydroxylase	BrainSpLMD|113612	OMIM|610670;HPO|113612|Autosomal recessive inheritance, Babinski sign, Lower limb hyperreflexia, Motor delay, Spastic paraplegia, Toe walking, Unsteady gait, Variable expressivity
U4	ASCC2	1.428996987	0	Transcription regulatory protein	BrainSpLMD|84164;Eurexp|euxassay_002894|vibrissa	OMIM|614216
U4	PAAF1	1.428254849	0	Ubiquitin proteasome system protein	BrainSpLMD|80227	
U4	CTBP1.AS2	1.423766575	0			
U4	ETS1	1.423668941	0	Transcription factor	BrainSpLMD|2113;BrainSpMouseDev|23624	OMIM|164720
U4	R3HCC1	1.423235416	0	Unclassified		
U4	C1orf112	1.421483476	0	Unclassified		
U4	SEC61A1	1.414775921	0	Integral membrane protein	BrainSpLMD|29927;Eurexp|euxassay_004866|clavicle, cranium, incisor, mandible, maxilla, rib, vibrissa	OMIM|609213;HPO|29927|Anemia, Autosomal dominant inheritance, Chronic kidney disease, Cognitive impairment, Focal segmental glomerulosclerosis, Gout, Intrauterine growth retardation, Nephropathy, Neutropenia, Progressive, Renal cyst, Short stature
U4	UBN1	1.4119586	0	Transcription regulatory protein	BrainSpLMD|29855	OMIM|609771
U4	HSPD1	1.405838417	0	Heat shock protein	BrainSpLMD|3329;BrainSpMouseDev|15285	OMIM|118190;HPO|3329|Apnea, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Choreoathetosis, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hyperreflexia, Impaired vibration sensation in the lower limbs, Intellectual disability, profound, Leukodystrophy, Lower limb muscle weakness, Lower limb spasticity, Neonatal onset, Nystagmus, Postnatal microcephaly, Progressive, Progressive spasticity, Seizures, Spastic gait, Spastic paraplegia, Strabismus, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
U4	ARAP1	1.405147855	0	GTPase activating protein	BrainSpLMD|116985;Eurexp|euxassay_016262|bladder, cortex, oesophagus	OMIM|606646
U4	POLE3	1.401244729	0	DNA binding protein	BrainSpLMD|54107	OMIM|607267
U4	HSD17B7P2	1.397878954	0		BrainSpLMD|158160	
U4	MED15	1.397268814	0	Transcription regulatory protein	BrainSpLMD|51586	OMIM|607372
U4	SNF8	1.395579831	0	Transcription regulatory protein	BrainSpLMD|11267;BrainSpMouseDev|27425	OMIM|610904
U4	CAD	1.39346022	0	Enzyme: Ligase	BrainSpLMD|790	OMIM|114010;HPO|790|Acanthocytosis, Anemia, Anisopoikilocytosis, Autosomal recessive inheritance, Broad-based gait, Developmental regression, Epileptic encephalopathy, Generalized hypotonia, Global developmental delay, Hyperammonemia, Infantile onset, Poor speech, Progressive, Renal tubular acidosis, Schistocytosis, Status epilepticus
U4	SUPV3L1	1.393412578	0	RNA binding protein	BrainSpLMD|6832	OMIM|605122
U4	ADPRHL2	1.391676772	0	Enzyme: Hydrolase	BrainSpLMD|54936	OMIM|610624
U4	HTR2A	1.385518625	0	G protein coupled receptor	BrainSpLMD|3356;BrainSpMouseDev|15333	SFARI||Autism, 5 - Hypothesized but untested;OMIM|182135
U4	RPGR	1.385120847	0	Guanine nucleotide exchange factor	BrainSpLMD|6103;Eurexp|euxassay_011540|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|312610;HPO|6103|Abnormal electroretinogram, Abnormality of color vision, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atelectasis, Atypical scarring of skin, Blindness, Cataract, Chronic sinusitis, Conductive hearing impairment, Cone dysfunction syndrome, Cone/cone-rod dystrophy, Dyschromatopsia, Exotropia, Glaucoma, High-frequency hearing impairment, Hyperinsulinemia, Hypermetropia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Macular degeneration, Macular scar, Myopia, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Otitis media, Pendular nystagmus, Photophobia, Progressive night blindness, Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Recurrent respiratory infections, Reduced visual acuity, Rod-cone dystrophy, Sensorineural hearing impairment, Visual impairment, Wide nasal bridge, X-linked inheritance, X-linked recessive inheritance
U4	STRIP1	1.383045261	0	Unclassified	BrainSpLMD|85369;Eurexp|euxassay_002357|brain, dorsal root ganglion, facial VII, ganglion, glossopharyngeal IX, spinal cord, trigeminal V, vestibulocochlear VIII	
U4	PCDH17	1.379653699	0	Adhesion molecule	BrainSpLMD|27253	OMIM|611760
U4	GPR98	1.372923102	0			
U4	ZNF304	1.371472955	0	DNA binding protein	BrainSpLMD|57343	OMIM|613840
U4	DLC1	1.369509195	0	GTPase activating protein	BrainSpLMD|10395;Eurexp|euxassay_013403|axial skeleton, mandible, mantle layer, roof plate, trigeminal V, ventricular layer	OMIM|604258;HPO|10395|Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma
U4	UGT8	1.367757045	0	Enzyme: Glycosyltransferase	BrainSpLMD|7368	OMIM|601291
U4	SCFD2	1.364522308	0	Transport/cargo protein	BrainSpLMD|152579	SFARI||Autism, 4 - Minimal evidence
U4	AC010226.4	1.364208619	0			
U4	PPARA	1.362345173	0	Nuclear receptor	BrainSpLMD|5465;BrainSpMouseDev|18776	OMIM|170998
U4	B3GNT7	1.361602114	0	Enzyme: Galactosyltransferase	BrainSpLMD|93010	OMIM|615313
U4	DSEL	1.361107377	0	Enzyme: Sulphotransferase	BrainSpLMD|92126	OMIM|611125
U4	PITRM1	1.360265565	0	Metallo protease	BrainSpLMD|10531;Eurexp|euxassay_006516|adrenal gland, axial muscle, incisor, liver, lung, metanephros, molar, orbito-sphenoid, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	
U4	EIF2B4	1.359364649	0	Translation regulatory protein	BrainSpLMD|8890	OMIM|606687;HPO|8890|Autosomal recessive inheritance, CNS demyelination, Cerebral hypomyelination, Cessation of head growth, Decreased circulating progesterone, Delusions, Developmental regression, Dysarthria, Emotional lability, Generalized hypotonia, Juvenile onset, Lethargy, Leukoencephalopathy, Macrocephaly, Memory impairment, Optic atrophy, Personality changes, Premature ovarian insufficiency, Primary gonadal insufficiency, Secondary amenorrhea, Seizures, Spasticity, Unsteady gait
U4	NOB1	1.358861212	0	Ribonuclease	BrainSpLMD|28987;Eurexp|euxassay_007565|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613586
U4	EFS	1.358687179	0	Unclassified	BrainSpLMD|10278	OMIM|609906
U4	TPD52L2	1.354737513	0	Unclassified	BrainSpLMD|7165	OMIM|603747
U4	WDR55	1.353221553	0	Unclassified	BrainSpLMD|54853;Eurexp|euxassay_010396|liver	
U4	RP11.26J3.3	1.350883362	0			
U4	ARNTL2	1.347788851	0	Transcription factor	BrainSpLMD|56938;BrainSpMouseDev|93055	OMIM|614517
U4	RPS7P11	1.345611048	0			
U4	MED8	1.345316943	0	Transcription regulatory protein	BrainSpLMD|112950	OMIM|607956
U4	NID1	1.344628003	0	Extracellular matrix protein	BrainSpLMD|4811;Eurexp|euxassay_009707|cervical region, diaphragm, dorsal grey horn, extrinsic ocular muscle, lens, maxillary division, meninges, turbinate bones, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|131390
U4	RHBDD2	1.343831456	0	Integral membrane protein	BrainSpLMD|57414	OMIM|615203
U4	RP1.283E3.8	1.334135386	0			
U4	IARS	1.328519942	0	Enzyme: Ligase	BrainSpLMD|3376;Eurexp|euxassay_001939|Meckel's cartilage, cervical, cervico-thoracic, cortex, dorsal root ganglion, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	OMIM|600709;HPO|3376|Autosomal recessive inheritance, Congenital onset, Failure to thrive, Generalized hypotonia, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Microcephaly, Postnatal growth retardation, Variable expressivity
U4	GPR171	1.327534	0	G protein coupled receptor	BrainSpLMD|29909	
U4	UBAP2	1.327384499	0	Unclassified	BrainSpLMD|55833	
U4	DNALI1	1.32523106	0	Structural protein	BrainSpLMD|7802;Eurexp|euxassay_011747|choroid invagination, choroid plexus, epithelium, olfactory	OMIM|602135
U4	KIZ	1.325012519	0	Unclassified	BrainSpLMD|55857;Eurexp|euxassay_013723|mantle layer, marginal layer, olfactory, thyroid, ventricular layer	OMIM|615757;HPO|55857|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Pigmentary retinopathy, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Undetectable electroretinogram, Wide nasal bridge
U4	MTRF1L	1.322262024	0	Translation regulatory protein	BrainSpLMD|54516	OMIM|613542
U4	DOCK10	1.32137486	0	Unclassified	BrainSpLMD|55619;Eurexp|euxassay_011695|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thymus primordium, thyroid, trigeminal V, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|611518
U4	ZNFX1	1.31902505	0	Transcription regulatory protein	BrainSpLMD|57169	
U4	ANKZF1	1.318338996	0	Unclassified	BrainSpLMD|55139	OMIM|617541
U4	HTT	1.315958318	0	DNA binding protein	BrainSpLMD|3064	OMIM|613004;HPO|3064|Abnormality of eye movement, Abnormality of movement, Abnormality of the voice, Autosomal dominant inheritance, Behavioral abnormality, Bradykinesia, Cerebellar atrophy, Cerebral cortical atrophy, Chorea, Dementia, Depressivity, Developmental regression, EEG abnormality, Gait ataxia, Gliosis, Hyperreflexia, Neuronal loss in central nervous system, Personality changes, Seizures, Spasticity
U4	DNAJC7	1.315242703	0	Chaperone	BrainSpLMD|7266	OMIM|601964
U4	ENPP1	1.307313923	0	ATPase	BrainSpLMD|5167;Eurexp|euxassay_008618|incisor, molar	OMIM|173335;HPO|5167|Abnormal trabecular bone morphology, Abnormality of renal excretion, Abnormality of the cerebral vasculature, Abnormality of the sacroiliac joint, Angioid streaks of the retina, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone pain, Bruising susceptibility, Congestive heart failure, Coronary artery calcification, Coxa vara, Craniosynostosis, Delayed eruption of teeth, Distal femoral bowing, Elevated alkaline phosphatase of bone origin, Enlargement of the wrists, Enthesitis, Epidermal acanthosis, Excessive wrinkled skin, Generalized arterial calcification, Genu varum, Hypergranulosis, Hyperkeratosis, Hyperphosphaturia, Hypertension, Hypophosphatemic rickets, Increased bone mineral density, Low serum calcitriol, Lower limb asymmetry, Malabsorption, Myocardial infarction, Myopia, Osteomalacia, Polyarticular arthritis, Pseudo-fractures, Renal hypophosphatemia, Renal phosphate wasting, Retinal hemorrhage, Retinopathy, Rickets of the lower limbs, Sclerotic vertebral endplates, Sensorineural hearing impairment, Short stature, Skeletal dysplasia, Skin rash, Spinal canal stenosis, Striae distensae, Thickened nuchal skin fold, Tibial bowing, Tooth abscess
U4	CCT5	1.301966679	0	Chaperone	BrainSpLMD|22948	OMIM|610150;HPO|22948|Abnormality of the foot, Acral ulceration and osteomyelitis leading to autoamputation of digits, Atrophy of the spinal cord, Autosomal recessive inheritance, Babinski sign, Clonus, Decreased circulating low-density lipoprotein levels, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment, Distal sensory loss of all modalities, Hypocholesterolemia, Infantile onset, Juvenile onset, Peripheral axonal neuropathy, Spastic gait, Spastic paraplegia
U4	FBXO7	1.301346304	0	Ubiquitin proteasome system protein	BrainSpLMD|25793;Eurexp|euxassay_000818|dorsal root ganglion, gall bladder, liver, trigeminal V, vagus X	OMIM|605648;HPO|25793|Abnormality of extrapyramidal motor function, Autosomal recessive inheritance, Babinski sign, Bradykinesia, Dysarthria, Dystonia, Hyperreflexia, Hypomimic face, Lower limb spasticity, Parkinsonism with favorable response to dopaminergic medication, Postural instability, Rigidity, Scissor gait, Slow progression, Slow saccadic eye movements, Talipes equinovarus, Tremor, Young adult onset
U4	LIMA1	1.301128114	0	Cytoskeletal protein	BrainSpLMD|51474	OMIM|608364
U4	KPNA3	1.298816196	0	Transport/cargo protein	BrainSpLMD|3839	OMIM|601892
U4	ARL4D	1.298121898	0	GTPase	BrainSpLMD|379	OMIM|600732
U4	DHX38	1.297143808	0	RNA binding protein	BrainSpLMD|9785	OMIM|605584
U4	MBD1	1.293496683	0	Transcription regulatory protein	BrainSpLMD|4152	SFARI||Autism, 4 - Minimal evidence;OMIM|156535
U4	UBOX5	1.29241201	0	Ubiquitin proteasome system protein	BrainSpLMD|22888	
U4	TTPAL	1.288539507	0	Unclassified	BrainSpLMD|79183	
U4	RP11.475C16.1	1.286160689	0			
U4	EBNA1BP2	1.28383667	0	Unclassified	BrainSpLMD|10969	OMIM|614443
U4	MKL1	1.282101623	0	Transcription factor	BrainSpLMD|57591	OMIM|606078;COSMIC||acute megakaryocytic leukaemia
U4	VOPP1	1.280573089	0	Transcription regulatory protein	BrainSpLMD|81552;Eurexp|euxassay_012572|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611915
U4	ZNF211	1.27851957	0	DNA binding protein	BrainSpLMD|10520	OMIM|601856
U4	ZNF791	1.275876774	0	Transcription regulatory protein		
U4	SFXN4	1.274137667	0	Membrane transport protein	BrainSpLMD|119559	OMIM|615564;HPO|119559|Autosomal recessive inheritance, Delayed speech and language development, Dysmetria, Generalized hypotonia, Increased serum lactate, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Lactic acidosis, Skeletal muscle atrophy, Tremor, Variable expressivity, Visual impairment
U4	BNIP1	1.271816876	0	Adapter molecule	BrainSpLMD|662	OMIM|603291
U4	MCM3	1.271215468	0	DNA binding protein	BrainSpLMD|4172;Eurexp|euxassay_001694|marginal layer, ventricular layer	OMIM|602693
U4	NDUFA6	1.268550551	0	Enzyme: Oxidoreductase	BrainSpLMD|4700	OMIM|602138
U4	PVRL3	1.26550353	0			
U4	RP11.147I3.1	1.264316321	0			
U4	MAU2	1.263587425	0	Unclassified	BrainSpLMD|23383	OMIM|614560
U4	GSTM5	1.262760862	0	Enzyme: Glutathione transferase	BrainSpLMD|2949;Eurexp|euxassay_018918|foregut-midgut junction, liver, lobe, midgut, nucleus pulposus, olfactory, pancreas, renal/urinary system, stomach, testis, thymus primordium, ventral grey horn, ventricular layer	OMIM|138385
U4	NELFE	1.262131308	0	RNA binding protein	BrainSpLMD|7936	OMIM|154040
U4	CCND3	1.257609508	0	Cell cycle control protein	BrainSpLMD|896	OMIM|123834;COSMIC||MM
U4	MRPS6	1.254983477	0	Ribosomal subunit	BrainSpLMD|64968;Eurexp|euxassay_000228|choroid plexus, metencephalon, telencephalon	OMIM|611973
U4	PBDC1	1.250654823	0	Unclassified	BrainSpLMD|51260	
U4	UBE3C	1.250643424	0	Ubiquitin proteasome system protein	BrainSpLMD|9690	SFARI||Autism, 3 - Suggestive evidence;OMIM|614454
U4	RP4.604A21.1	1.249412038	0			
U4	PCYT1A	1.244859679	0	Enzyme: Nucleotidyltransferase	BrainSpLMD|5130;Eurexp|euxassay_003868|Meckel's cartilage	OMIM|123695;HPO|5130|Abnormal electroretinogram, Abnormality of color vision, Abnormality of macular pigmentation, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the ribs, Aplasia/Hypoplasia of the cerebellar vermis, Astigmatism, Autosomal recessive inheritance, Bowing of the long bones, Brachydactyly, Cataract, Cone/cone-rod dystrophy, Coxa vara, Cupped ribs, Decreased hip abduction, Dental malocclusion, Encephalocele, Femoral bowing, Hemiplegia/hemiparesis, High-grade hypermetropia, Hyperlordosis, Hypoplastic inferior ilia, Iris hypopigmentation, Joint stiffness, Keratoconus, Large central visual field defect, Metaphyseal cupping, Metaphyseal irregularity, Metaphyseal widening, Muscular hypotonia, Myopia, Narrow greater sacrosciatic notches, Nyctalopia, Nystagmus, Ovoid vertebral bodies, Peripheral visual field loss, Photophobia, Platyspondyly, Postnatal growth retardation, Progressive visual loss, Recurrent otitis media, Rhizomelia, Scoliosis, Seizures, Severe platyspondyly, Severe short stature, Severe visual impairment, Short finger, Short metacarpal, Spondylometaphyseal dysplasia, Tibial bowing, Visual loss
U4	DUSP4	1.244853483	0	Dual specificity phosphatase	BrainSpLMD|1846;Eurexp|euxassay_008070|brain, olfactory, spinal cord	OMIM|602747
U4	OSER1	1.243168214	0	Unclassified	BrainSpLMD|51526	
U4	SRRT	1.234776891	0	Unclassified	BrainSpLMD|51593	OMIM|614469
U4	CP	1.234066468	0	Enzyme: Oxidoreductase	BrainSpLMD|1356;Eurexp|euxassay_012898|floorplate, olfactory, roof plate, skeletal muscle	OMIM|117700;HPO|1356|Abnormality of extrapyramidal motor function, Aceruloplasminemia, Adult onset, Anemia, Ataxia, Autosomal recessive inheritance, Blepharospasm, Chorea, Cogwheel rigidity, Decreased serum ceruloplasmin, Decreased serum iron, Delayed speech and language development, Dementia, Depressivity, Diabetes mellitus, Dysarthria, Elevated hepatic iron concentration, Hypertonia, Increased serum ferritin, Parkinsonism, Refractory anemia, Retinal degeneration, Scanning speech, Torticollis, Tremor
U4	ZNF449	1.232253966	0	Transcription regulatory protein	BrainSpLMD|203523	OMIM|300627
U4	MLXIP	1.22998987	0	Transcription factor	BrainSpLMD|22877;Eurexp|euxassay_016215|mandible, maxilla, orbito-sphenoid, rib;BrainSpMouseDev|83930	OMIM|608090
U4	RASSF4	1.228642511	0	Unclassified	BrainSpLMD|83937;Eurexp|euxassay_006256|dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, respiratory, trigeminal V, ventral grey horn, ventricular layer	OMIM|610559
U4	ALAS1	1.22743246	0	Enzyme: Synthase	BrainSpLMD|211;Eurexp|euxassay_009192|liver, medulla	OMIM|125290
U4	SLC25A12	1.222440448	0	Transport/cargo protein	BrainSpLMD|8604	SFARI||Autism, 4 - Minimal evidence;OMIM|603667;HPO|8604|Absent speech, Autosomal recessive inheritance, Cerebral hypomyelination, Epileptic encephalopathy, Global developmental delay, Hyperreflexia, Infantile onset, Poor eye contact, Seizures, Severe muscular hypotonia, Spasticity
U4	DCAF5	1.221669563	0	Unclassified	BrainSpLMD|8816	OMIM|603812
U4	CA2	1.219943071	0	Enzyme: Carbonic anhydrase	BrainSpLMD|760;Eurexp|euxassay_018564|Meckel's cartilage, bladder, choroid plexus, cochlear duct, fundus region, incisor, lateral recess, lobe, lumen, lung, molar, rectum;BrainSpMouseDev|12134	OMIM|611492;HPO|760|Abnormality of dental morphology, Abnormality of epiphysis morphology, Abnormality of the renal tubule, Anemia, Aseptic necrosis, Autosomal recessive inheritance, Basal ganglia calcification, Bone pain, Carious teeth, Cerebral calcification, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, Distal renal tubular acidosis, Elevated serum acid phosphatase, Extramedullary hematopoiesis, Failure to thrive, Genu valgum, Global developmental delay, Hepatomegaly, Hepatosplenomegaly, Intellectual disability, Mandibular prognathia, Optic nerve compression, Osteopetrosis, Periodic hypokalemic paresis, Peripheral neuropathy, Recurrent fractures, Reduced bone mineral density, Short stature, Splenomegaly, Thrombocytopenia, Visual loss
U4	ZNF674.AS1	1.216419483	0			
U4	TMEM108	1.21152902	0	Unclassified	BrainSpLMD|66000;Eurexp|euxassay_002435|choroid plexus, lateral recess, marginal layer	OMIM|617361
U4	TMEM25	1.210175911	0	Unclassified	BrainSpLMD|84866;Eurexp|euxassay_011799|basioccipital bone, orbito-sphenoid, petrous part	OMIM|613934
U4	ZNF700	1.207507526	0	DNA binding protein	BrainSpLMD|90592	
U4	TARS	1.202802948	0	Enzyme: Ligase	BrainSpLMD|6897;Eurexp|euxassay_006234|cortex, left, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|187790
U4	ATCAY	1.200847702	0	Integral membrane protein	BrainSpLMD|85300;Eurexp|euxassay_004136|brain, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, midgut, neural retina, olfactory, spinal cord, stomach, telencephalon, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608179;HPO|85300|Autosomal recessive inheritance, Broad-based gait, Dysarthria, Gait ataxia, Generalized hypotonia, Global developmental delay, Intention tremor, Nystagmus
U4	C12orf5	1.200082717	0			
U4	ANO10	1.199491612	0	Integral membrane protein	BrainSpLMD|55129	OMIM|613726;HPO|55129|Autosomal recessive inheritance, Cerebellar atrophy, Dysarthria, Dysmetria, Fasciculations, Gait ataxia, Hypermetric saccades, Hyperreflexia, Limb ataxia, Nystagmus, Pes cavus, Truncal ataxia
U4	PPP1R12B	1.198096645	0	Regulatory/other subunit	BrainSpLMD|4660	OMIM|603768
U4	MYO10	1.198089109	0	Motor protein	BrainSpLMD|4651;Eurexp|euxassay_009373|mantle layer, marginal layer, thymus primordium, trigeminal V, ventricular layer	OMIM|601481
U4	ATF4	1.197951048	0	Transcription factor	BrainSpLMD|468;BrainSpMouseDev|11698	OMIM|604064
U4	SDF2	1.197164916	0	Secreted polypeptide	BrainSpLMD|6388	OMIM|602934
U4	GALNT13	1.19697017	0	Enzyme: Galactosyltransferase	BrainSpLMD|114805	SFARI||Autism, 4 - Minimal evidence;OMIM|608369
U4	FAM208B	1.19487727	0	Unclassified	BrainSpLMD|54906	
U4	SLC35B1	1.194596363	0	Membrane transport protein	BrainSpLMD|10237;Eurexp|euxassay_005005|clavicle, incisor, mandible, maxilla, orbito-sphenoid, rib, submandibular gland primordium	SFARI||Autism, 3 - Suggestive evidence;OMIM|610790
U4	ZNF608	1.191805976	0	Unclassified		
U4	GAPDHP65	1.190078996	0			
U4	REPS1	1.188669262	0	Calcium binding protein	BrainSpLMD|85021;Eurexp|euxassay_000289|cranium, dorsal root ganglion, lung, mantle layer, otic capsule, thymus primordium, ventral grey horn	OMIM|614825
U4	NAA35	1.187869888	0	Unclassified	BrainSpLMD|60560;Eurexp|euxassay_007326|embryo	
U4	EEF1A1P11	1.184478705	0			
U4	GPIHBP1	1.184183054	0	Unclassified	BrainSpLMD|338328	OMIM|612757;HPO|338328|Acute pancreatitis, Autosomal recessive inheritance, Episodic abdominal pain, Eruptive xanthomas, Failure to thrive, Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Hyperlipoproteinemia, Hypertriglyceridemia, Increased circulating chylomicron levels, Lipemia retinalis, Recurrent pancreatitis, Splenomegaly
U4	AAK1	1.183348902	0	Cytoskeletal associated protein	BrainSpLMD|22848;Eurexp|euxassay_013375|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|616405
U4	CNTN1	1.182518796	0	Adhesion molecule	BrainSpLMD|1272;Eurexp|euxassay_006852|4th ventricle, calyces, choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, marginal layer, maxilla, neural retina, olfactory, pelvis, pituitary, trigeminal V, ureter, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|12588	OMIM|600016;HPO|1272|Akinesia, Arachnodactyly, Areflexia, Autosomal recessive inheritance, Camptodactyly, Death in infancy, Fetal akinesia sequence, High, narrow palate, Hypertelorism, Joint contracture of the hand, Neonatal hypotonia, Oval face, Overlapping fingers, Polyhydramnios, Poor suck, Respiratory insufficiency due to muscle weakness, Scaphocephaly, Small for gestational age
U4	BAZ1B	1.181957199	0	Transcription regulatory protein	BrainSpLMD|9031	OMIM|605681;HPO|9031|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the neck, Anxiety, Arthralgia, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad forehead, Cerebral ischemia, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Dental malocclusion, Depressivity, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Epicanthus, Everted lower lip vermilion, Failure to thrive in infancy, Gait imbalance, Genu valgum, Hallux valgus, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Inguinal hernia, Insomnia, Intellectual disability, Joint stiffness, Kyphosis, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Microcephaly, Microdontia, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Open bite, Overfriendliness, Pelvic kidney, Periorbital edema, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Proteinuria, Protruding ear, Pulmonic stenosis, Redundant skin, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Visual impairment, Wide mouth, Wide nasal bridge
U4	RNF41	1.181759211	0	Ubiquitin proteasome system protein	BrainSpLMD|10193	
U4	TMEM62	1.179461536	0	Integral membrane protein	BrainSpLMD|80021	
U4	TMEM192	1.177583109	0	Integral membrane protein	BrainSpLMD|201931	
U4	TFB2M	1.177063843	0	Transcription factor	BrainSpLMD|64216;Eurexp|euxassay_007769|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|15053	OMIM|607055
U4	ACTBP2	1.172707532	0			
U4	PLEKHH2	1.171835929	0	Cytoskeletal protein	BrainSpLMD|130271	OMIM|612723
U4	CIAPIN1	1.171432518	0	Unclassified	BrainSpLMD|57019;Eurexp|euxassay_003162|cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, molar, neural retina, olfactory, stroma, submandibular gland primordium, thoracic, trigeminal V, urethra, vagus X, vestibulocochlear VIII	OMIM|608943
U4	FGD3	1.168730377	0	Guanine nucleotide exchange factor	BrainSpLMD|89846;Eurexp|euxassay_010184|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vestibulocochlear VIII	OMIM|617554
U4	SLC6A6	1.167159501	0	Transport/cargo protein	BrainSpLMD|6533;Eurexp|euxassay_004447|incisor, mantle layer, meninges, mesenchyme, molar, nose	OMIM|186854
U4	SCAMP3	1.162582057	0	Membrane transport protein	BrainSpLMD|10067	OMIM|606913
U4	AMOTL2	1.161620039	0	Unclassified	BrainSpLMD|51421;Eurexp|euxassay_012626|axial skeleton, ventricular layer	OMIM|614658
U4	TAOK3	1.161301341	0	Serine/threonine kinase	BrainSpLMD|51347	OMIM|616711
U4	MKRN2	1.160730239	0	Unclassified	BrainSpLMD|23609	OMIM|608426
U4	TIMELESS	1.157492306	0	Transcription regulatory protein	BrainSpLMD|8914	OMIM|603887
U4	SIRT2	1.155926108	0	Cell cycle control protein	BrainSpLMD|22933	OMIM|604480
U4	NFAT5	1.154806991	0	Transcription factor	BrainSpLMD|10725;BrainSpMouseDev|33737	OMIM|604708
U4	ZNF354C	1.153763832	0	Transcription regulatory protein	BrainSpLMD|30832;Eurexp|euxassay_005516|embryo	
U4	ZNF549	1.152318046	0	Transcription regulatory protein	BrainSpLMD|256051	
U4	LEPREL1	1.151971669	0			
U4	MRPL49	1.151816917	0	Ribosomal subunit	BrainSpLMD|740	OMIM|606866
U4	FAM134C	1.150882817	0			
U4	ZSWIM5	1.149642032	0	Unclassified		SFARI||Autism, 6 - Evidence does not support role
U4	CREBRF	1.146978018	0	DNA binding protein	BrainSpLMD|153222	OMIM|617109
U4	RORA	1.143664765	0	Nuclear receptor	BrainSpLMD|6095;Eurexp|euxassay_018175|anterior, dorsal grey horn, external, mantle layer, medulla, thymus primordium, vibrissa;BrainSpMouseDev|19646	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600825
U4	RPP14	1.142704274	0	Ribonuclease	BrainSpLMD|11102	OMIM|606112
U4	MRPL18	1.142663477	0	Ribosomal subunit	BrainSpLMD|29074	OMIM|611831
U4	LAPTM4B	1.139248363	0	Unclassified	BrainSpLMD|55353;Eurexp|euxassay_001940|basal plate, choroid plexus, dorsal root ganglion, incisor, lateral recess, mantle layer, submandibular gland primordium, trigeminal V, ventral grey horn, vestibulocochlear VIII;BrainSpMouseDev|76980	OMIM|613296
U4	STK4	1.139078304	0	Serine/threonine kinase	BrainSpLMD|6789	OMIM|604965;HPO|6789|Atrial septal defect, Autosomal recessive inheritance, Immunodeficiency, Lymphopenia, Neutropenia, Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Verrucae
U4	GOT2	1.13689217	0	Enzyme: Aminotransferase	BrainSpLMD|2806	OMIM|138150
U4	TUBGCP4	1.136740343	0	Cytoskeletal protein	BrainSpLMD|27229;Eurexp|euxassay_012450|ventricular layer	OMIM|609610;HPO|27229|Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the eyelashes, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Autosomal recessive inheritance, Biparietal narrowing, Cerebral cortical atrophy, Chorioretinal dysplasia, Congenital onset, Global developmental delay, Hypertonia, Intellectual disability, Intrauterine growth retardation, Microcephaly, Microphthalmia, Nystagmus, Optic atrophy, Pointed chin, Protruding ear, Reduced visual acuity, Scoliosis, Seizures, Short stature, Sloping forehead, Strabismus, Visual impairment, Wide nasal bridge
U4	BCAS1	1.135820445	0	Unclassified	BrainSpLMD|8537	SFARI||Autism, No category;OMIM|602968
U4	HIF1AN	1.133628813	0	Enzyme: Hydroxylase	BrainSpLMD|55662	OMIM|606615
U4	UBE4B	1.131385529	0	Ubiquitin proteasome system protein	BrainSpLMD|10277	OMIM|613565
U4	PXK	1.131112635	0	Serine/threonine kinase	BrainSpLMD|54899;Eurexp|euxassay_001792|hindbrain, mantle layer, marginal layer, midbrain, spinal cord	OMIM|611450
U4	ASTN1	1.127829172	0	Adhesion molecule	BrainSpLMD|460;BrainSpMouseDev|11686	OMIM|600904
U4	PRIMPOL	1.127822261	0	Unclassified	BrainSpLMD|201973	OMIM|615421;HPO|201973|Autosomal dominant inheritance, Myopia, Reduced visual acuity, Visual impairment
U4	EEF1A1P6	1.126853031	0			
U4	EPB41L2	1.125804271	0	Cytoskeletal protein	BrainSpLMD|2037;Eurexp|euxassay_010082|calyces, clavicle, femur, fibula, fundus region, lens, lung, mandible, maxilla, meninges, olfactory, orbito-sphenoid, pelvis, rib, roof plate, tibia, ureter	OMIM|603237
U4	POLR3A	1.124638646	0	RNA polymerase	BrainSpLMD|11128	OMIM|614258;HPO|11128|Abnormal upper motor neuron morphology, Ataxia, Autosomal recessive inheritance, Babinski sign, CNS hypomyelination, Cerebellar atrophy, Cerebral cortical atrophy, Delayed puberty, Drooling, Dysarthria, Dysmetria, Dysphagia, Dystonia, Global developmental delay, Hypergonadotropic hypogonadism, Hyperreflexia, Hypodontia, Hypogonadotrophic hypogonadism, Hypoplasia of the corpus callosum, Leukodystrophy, Myopia, Oligodontia, Phenotypic variability, Postural tremor, Progressive, Short stature, Spasticity
U4	AUP1	1.123097034	0	Unclassified	BrainSpLMD|550	OMIM|602434
U4	CDS2	1.116727787	0	Enzyme: Nucleotidyltransferase	BrainSpLMD|8760	OMIM|603549
U4	LRRTM3	1.116189296	0	Integral membrane protein	BrainSpLMD|347731;Eurexp|euxassay_006601|lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, midgut, palatal shelf, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|610869
U4	RP11.345P4.9	1.113335799	0			
U4	ZSCAN25	1.113262618	0	Unclassified	BrainSpLMD|221785	
U4	DDX39A	1.112496734	0	RNA helicase	BrainSpLMD|10212	
U4	5-Mar	1.111847119	0			
U4	TLK2	1.110541938	0	Cell cycle control protein	BrainSpLMD|11011	SFARI||Autism, 5 - Hypothesized but untested;OMIM|608439
U4	COPS6	1.10634818	0	Cell cycle control protein	BrainSpLMD|10980	OMIM|614729
U4	JAM3	1.105983581	0	Adhesion molecule	BrainSpLMD|83700;Eurexp|euxassay_000180|cerebral cortex, chondrocranium, diaphragm, head mesenchyme, limb, mantle layer, mesenchyme, tongue, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|58180	OMIM|606871;HPO|83700|Autosomal recessive inheritance, Cataract, Congenital onset, Global developmental delay, Hepatomegaly, Hyperreflexia, Postnatal microcephaly, Seizures, Spasticity, Ventriculomegaly
U4	FEM1B	1.102551071	0	Unclassified	BrainSpLMD|10116	OMIM|613539
U4	ZNF536	1.102481604	0	DNA binding protein	BrainSpLMD|9745;Eurexp|euxassay_015751|adrenal gland, bladder, brain, cochlea, dorsal root ganglion, forelimb, glossopharyngeal IX, hindgut, hindlimb, limb, loop, lung, mandible, medullary stroma, midgut, molar, oesophagus, olfactory, penis, pituitary, rectum, retina, spinal cord, stomach, thyroid, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	
U4	CEP250	1.101075716	0	Unclassified	BrainSpLMD|11190;Eurexp|euxassay_015874|olfactory, vomeronasal organ	OMIM|609689
U4	VPS13D	1.100656554	0	Transport/cargo protein	BrainSpLMD|55187	OMIM|608877
U4	DENND4A	1.094431105	0	Transcription factor	BrainSpLMD|10260	OMIM|600382
U4	C3orf38	1.093902363	0	Unclassified	BrainSpLMD|285237;Eurexp|euxassay_008127|embryo	
U4	SLAIN1	1.093315153	0	Unclassified	BrainSpLMD|122060	OMIM|610491
U4	GPR161	1.092822333	0	G protein coupled receptor	BrainSpLMD|23432;BrainSpMouseDev|88778	OMIM|612250;HPO|23432|Delayed puberty, Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypoplasia of penis, Hypothyroidism, Short stature
U4	ITGA6	1.092583748	0	Cell surface receptor	BrainSpLMD|3655;Eurexp|euxassay_012071|cortex, incisor, lung, mantle layer, metanephros, molar, pancreas, penis, rectum, ventral grey horn, ventricle	OMIM|147556;HPO|3655|Abdominal distention, Abnormality of the genitourinary system, Anonychia, Aplasia cutis congenita, Aplasia of the bladder, Arthrogryposis multiplex congenita, Atrophic scars, Autosomal recessive inheritance, Axillary pterygia, Congenital onset, Congenital pyloric atresia, Death in infancy, Ectropion, Elevated maternal serum alpha-fetoprotein, Esophageal atresia, Fragile skin, Hematuria, Hydronephrosis, Hypoplasia of dental enamel, Intestinal atresia, Intractable diarrhea, Junctional split, Milia, Nail dysplasia, Nail dystrophy, Nausea and vomiting, Oral mucosal blisters, Polyhydramnios, Recurrent skin infections, Renal duplication, Renal dysplasia, Ureterocele, Urethral stricture, Urinary bladder inflammation
U4	ZNF780B	1.08993716	0	Unclassified		
U4	ELOVL4	1.088531306	0	Unclassified	BrainSpLMD|6785	OMIM|605512;HPO|6785|Abnormality of color vision, Abnormality of macular pigmentation, Abnormality of the choroid, Abnormality of the fovea, Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Central scotoma, Dry skin, Dysarthria, Dysdiadochokinesis, Gait disturbance, Hypohidrosis, Hyporeflexia, Macular degeneration, Macule, Nyctalopia, Nystagmus, Papule, Paroxysmal involuntary eye movements, Progressive cerebellar ataxia, Reduced visual acuity, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Retinal thinning, Urticaria, Yellow/white lesions of the macula
U4	CRTC3	1.088042498	0	Transcription regulatory protein	BrainSpLMD|64784	OMIM|608986;COSMIC||salivary gland mucoepidermoid
U4	H3F3AP6	1.087622792	0			
U4	ILF3	1.086487553	0	Transcription factor;RNA binding protein	BrainSpLMD|3609	OMIM|603182
U4	COX10	1.085792353	0	Enzyme: Oxidase	BrainSpLMD|1352;Eurexp|euxassay_018930|oesophagus, submandibular gland primordium, thymus primordium	OMIM|602125;HPO|1352|Abnormal pattern of respiration, Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, CNS demyelination, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Dysarthria, Dystonia, Emotional lability, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Glycosuria, Hepatocellular necrosis, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory failure, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
U4	APBB1	1.083014497	0	Adapter molecule	BrainSpLMD|322;Eurexp|euxassay_018324|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|602709
U4	PRKAR2A	1.081828257	0	Serine/threonine kinase	BrainSpLMD|5576	OMIM|176910
U4	CWC25	1.081495067	0	Unclassified	BrainSpLMD|54883;Eurexp|euxassay_000128|dermis, epidermis	
U4	C16orf80	1.081121968	0			
U4	RIMS2	1.079506566	0	Unclassified	BrainSpLMD|9699	OMIM|606630
U4	RFPL1S	1.079147954	0			OMIM|605972
U4	TRIM44	1.074482868	0	Unclassified	BrainSpLMD|54765	OMIM|612298;HPO|54765|Aniridia, Aplasia/Hypoplasia of the macula, Autosomal dominant inheritance, Cataract, Glaucoma, Nystagmus, Peters anomaly, Progressive visual loss, Visual loss
U4	HDAC1P2	1.073773166	0			
U4	SLC25A38	1.072404146	0	Transport/cargo protein	Eurexp|euxassay_005653|basal plate, dorsal root ganglion, facial VII, inferior, lobe, superior, trigeminal V, vagus X	OMIM|610819;HPO|54977|Anemia, Autosomal recessive inheritance, Decreased mean corpuscular volume, Heterogeneous, Increased serum ferritin, Infantile onset
U4	DHX40	1.072001338	0	ATPase	BrainSpLMD|79665	OMIM|607570
U4	ATP6V0A2	1.071365837	0	ATPase	BrainSpLMD|23545;Eurexp|euxassay_011914|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, rib, scapula, sternum, tibia, turbinate bones, vault of skull	SFARI||Autism, 4 - Minimal evidence;OMIM|611716;HPO|23545|Abnormal apolipoprotein level, Abnormal isoelectric focusing of serum transferrin, Abnormal subcutaneous fat tissue distribution, Abnormality of the cheek, Anteverted nares, Atrial septal dilatation, Autosomal recessive inheritance, Broad nasal tip, Carious teeth, Cerebellar hypoplasia, Coarse hair, Congenital hip dislocation, Coxa vara, Cryptorchidism, Cutis laxa, Dandy-Walker malformation, Decreased muscle mass, Deep palmar crease, Deep plantar creases, Delayed closure of the anterior fontanelle, Delayed cranial suture closure, Delayed eruption of teeth, Delayed speech and language development, Dementia, Downslanted palpebral fissures, Epicanthus, Excessive skin wrinkling on dorsum of hands and fingers, Excessive wrinkled skin, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat face, Fragile nails, Fragmented elastic fibers in the dermis, Frontal bossing, Generalized hypotonia, Generalized joint laxity, Global developmental delay, High nonceruloplasmin-bound serum copper, High palate, Hypertelorism, Hypoplasia of the musculature, Infantile muscular hypotonia, Inguinal hernia, Intellectual disability, Intellectual disability, profound, Intrauterine growth retardation, Joint hypermobility, Kyphoscoliosis, Kyphosis, Lipodystrophy, Lissencephaly, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Microdontia, Midface retrusion, Motor delay, Multiple palmar creases, Multiple plantar creases, Muscular hypotonia, Myopia, Narrow mouth, Nasal speech, Neonatal wrinkled skin of hands and feet, Osteopenia, Pachygyria, Palmoplantar cutis laxa, Pectus excavatum, Pes planus, Polymicrogyria, Poor speech, Postnatal growth retardation, Premature rupture of membranes, Progressive cerebellar ataxia, Progressive microcephaly, Prominent nasolabial fold, Prominent veins on trunk, Psychomotor deterioration, Recurrent sinopulmonary infections, Redundant neck skin, Redundant skin, Scapular winging, Scoliosis, Seizures, Severe Myopia, Short nail, Short nose, Short stature, Slender long bone, Slender long bones with narrow diaphyses, Slurred speech, Small, conical teeth, Smooth philtrum, Sparse hair, Spasticity, Status epilepticus, Strabismus, Subretinal pigment epithelium hemorrhage, Talipes equinovarus, Thick cerebral cortex, Thick hair, Umbilical hernia, Wide anterior fontanel, Wide nasal bridge, Wormian bones
U4	CREB3L2	1.071197604	0	Transcription factor	BrainSpLMD|64764;BrainSpMouseDev|83997	OMIM|608834;COSMIC||fibromyxoid sarcoma
U4	PPP2R2D	1.069020623	0	Unclassified	BrainSpLMD|55844	OMIM|613992
U4	ABHD17B	1.068642574	0	Unclassified	BrainSpLMD|51104	
U4	FAT1	1.067148384	0	Adhesion molecule	BrainSpLMD|2195;Eurexp|euxassay_013462|axial skeleton, lung, mandible, maxilla, mesenchyme, rest of mesenchyme, sternum, submandibular gland primordium, vibrissa;BrainSpMouseDev|13884	SFARI||Autism, No category;OMIM|600976;COSMIC||oral squamous cell, chemorefractory CLL, head and neck, pancreatic acinar cell carcinoma, pancreatic
U4	BAALC	1.06624796	0	Unclassified	BrainSpLMD|79870	OMIM|606602
U4	RBP1	1.064643531	0	Transport/cargo protein	BrainSpLMD|5947;Eurexp|euxassay_003315|brain, corpus striatum, forelimb, hindbrain, hindlimb, mantle layer, midgut, olfactory lobe, telencephalon, turbinate bones	OMIM|180260
U4	FIP1L1	1.063408555	0	Unclassified		OMIM|607686;COSMIC||idiopathic hypereosinophilic syndrome
U4	FNTA	1.063205649	0	Enzyme: Transferase	BrainSpLMD|2339	OMIM|134635
U4	RP11.351J23.1	1.062884494	0			
U4	MSH6	1.060809091	0	DNA repair protein	BrainSpLMD|2956;Eurexp|euxassay_006580|embryo	OMIM|600678;COSMIC||colorectal, colorectal, endometrial, ovarian;HPO|2956|Abdominal pain, Abnormality of abdomen morphology, Adenoma sebaceum, Anxiety, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary freckling, Basal cell carcinoma, Cafe-au-lait spot, Colon cancer, Constipation, Death in early adulthood, Death in infancy, Depressivity, Endometrial carcinoma, Ependymoma, Fatigue, Gastrointestinal hemorrhage, Glioblastoma, Hereditary nonpolyposis colorectal carcinoma, Hypermelanotic macule, Hypertonia, Incomplete penetrance, Increased intracranial pressure, Irritability, Leukemia, Lymphoma, Malabsorption, Medulloblastoma, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Neoplasm of the stomach, Neuroblastoma, Rhabdomyosarcoma, Seizures, Weight loss
U4	MLF1	1.059552937	0	Unclassified	BrainSpLMD|4291;Eurexp|euxassay_009918|choroid invagination, choroid plexus, roof plate	OMIM|601402;COSMIC||AML
U4	ACVR1C	1.05709732	0	Receptor serine/threonine kinase	BrainSpMouseDev|92713	OMIM|608981
U4	ZNF7	1.054248167	0	DNA binding protein	BrainSpLMD|7553;Eurexp|euxassay_004422|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, epithelium, glossopharyngeal IX, lung, metanephros, midgut, molar, olfactory, rectum, respiratory, spinal cord, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trachea, trigeminal V, vestibulocochlear VIII	OMIM|194531
U4	LIMS1	1.052002932	0	Adapter molecule	BrainSpLMD|3987;Eurexp|euxassay_003410|4th ventricle, bladder, gut, heart, incisor, liver, liver and biliary system, lung, metanephros, molar, stomach, submandibular gland primordium, tongue, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|74984	OMIM|602567
U4	INTS10	1.051500792	0	Unclassified	BrainSpLMD|55174;Eurexp|euxassay_001760|mantle layer, marginal layer	OMIM|611353
U4	MTOR	1.051338083	0	Cell cycle control protein	BrainSpLMD|2475;BrainSpMouseDev|35996	SFARI||Autism, 3 - Suggestive evidence;OMIM|601231;COSMIC||endometrial carcinoma, head and neck, clear cell renal cell carcinoma, anaplastic thyroid cancer, urothelial cell carcinoma, central nervous system tumours, testicular germ cell tumours and other tumour types, Smith-Kingsmore syndrome, brain overgrowth phenotypes such as focal cortical dysplasia and megalencephaly;HPO|2475|Adult onset, Astrocytosis, Autosomal dominant inheritance, Cafe-au-lait spot, Cognitive impairment, Cortical dysplasia, Curly hair, Deep palmar crease, Deep plantar creases, Depressed nasal bridge, Downslanted palpebral fissures, Focal seizures with impairment of consciousness or awareness, Focal white matter lesions, Frontal bossing, Generalized hypotonia, Hemiparesis, High forehead, Hypertelorism, Hypoglycemia, IgA deficiency, Infantile onset, Intellectual disability, Long philtrum, Macrocephaly, Midface retrusion, Perisylvian polymicrogyria, Rhizomelia, Seizures, Short chin, Short nose, Short proximal phalanx of finger, Smooth philtrum, Somatic mutation, Sporadic, Thin upper lip vermilion, Thrombocytopenia, Wide anterior fontanel, Wide mouth
U4	GABPB1	1.050889383	0	Transcription factor	BrainSpLMD|2553;BrainSpMouseDev|14167	OMIM|600610
U4	MYD88	1.049755392	0	Adapter molecule	BrainSpLMD|4615	OMIM|602170;COSMIC||ABC-DLBCL;HPO|4615|Abnormality of neutrophils, Autosomal dominant inheritance, Gingival bleeding, Hypercoagulability, Immunodeficiency, Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immunoglobulin M proteinemia, Normocytic anemia, Pallor, Polyclonal elevation of IgM, Polyneuropathy, Recurrent bacterial skin infections, Respiratory insufficiency, Vertigo
U4	FH	1.047163425	0	Enzyme: Hydratase	BrainSpLMD|2271;Eurexp|euxassay_004825|axial muscle	OMIM|136850;COSMIC||leiomyomatosis, renal;HPO|2271|Abnormality of the musculature, Agenesis of corpus callosum, Aminoaciduria, Anteverted nares, Autosomal recessive inheritance, Cerebral atrophy, Cholestasis, Choroid plexus cyst, Cutaneous leiomyoma, Depressed nasal bridge, Failure to thrive, Frontal bossing, Generalized hypotonia, Global developmental delay, Hepatic failure, High palate, Hypertelorism, Hypoplasia of the brainstem, Intellectual disability, profound, Lactic acidosis, Metabolic acidosis, Microcephaly, Multiple cutaneous leiomyomas, Neurological speech impairment, Open operculum, Optic atrophy, Pallor, Polycythemia, Polymicrogyria, Pruritus, Reduced subcutaneous adipose tissue, Relative macrocephaly, Status epilepticus, Visual impairment
U4	PDE12	1.044219678	0	Enzyme: Phosphodiesterase		OMIM|616519
U4	NARF	1.042861354	0	Unclassified	BrainSpLMD|26502;Eurexp|euxassay_013636|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, lobe, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|605349
U4	FGFR1	1.039649887	0	Receptor tyrosine kinase	BrainSpLMD|2260;BrainSpMouseDev|13959	OMIM|136350;COSMIC||MPN, NHL, salivary adenoma, Pfeiffer syndrome, Kallman syndrome;HPO|2260|2-3 toe syndactyly, Abnormal form of the vertebral bodies, Abnormality of body height, Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Abnormality of the clavicle, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Absent septum pellucidum, Agenesis of corpus callosum, Alopecia, Anosmia, Anterior hypopituitarism, Anterior pituitary hypoplasia, Anteverted nares, Anxiety, Aphasia, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Arachnoid cyst, Arnold-Chiari malformation, Atrial septal defect, Autosomal dominant inheritance, Bicoronal synostosis, Bimanual synkinesia, Bone cyst, Bowing of the long bones, Brachycephaly, Brachyturricephaly, Breast hypoplasia, Broad foot, Broad hallux, Broad hallux phalanx, Broad metacarpals, Broad metatarsal, Broad palm, Broad phalanx, Broad thumb, Bronchomalacia, Calcaneonavicular fusion, Capillary hemangiomas, Cartilaginous trachea, Cerebellar hypoplasia, Cerebral calcification, Cerebral cortical atrophy, Choanal atresia, Choanal stenosis, Chordee, Cleft eyelid, Cleft palate, Cleft upper lip, Cloverleaf skull, Corneal opacity, Coronal craniosynostosis, Cortical dysplasia, Craniofacial hyperostosis, Craniosynostosis, Cryptorchidism, Dandy-Walker malformation, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Depressivity, Diabetes insipidus, Downslanted palpebral fissures, Dysphasia, Echolalia, Ectrodactyly, Elbow ankylosis, Encephalocele, Epibulbar dermoid, Epicanthus, Erectile abnormalities, Eunuchoid habitus, Failure to thrive, Failure to thrive in infancy, Female hypogonadism, Finger syndactyly, Frontal bossing, Global developmental delay, Gonadotropin deficiency, Gynecomastia, Hallux varus, Hemiplegia/hemiparesis, Heterogeneous, High forehead, High palate, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hypernatremia, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the frontal bone, Hypoplasia of the iris, Hypoplasia of the maxilla, Hypoplasia of the ovary, Hypoplasia of the uterus, Hypoplastic scapulae, Hypoplastic toenails, Hyposmia, Hypospadias, Hypotelorism, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Incomplete penetrance, Increased female libido, Increased susceptibility to fractures, Inguinal hernia, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Limb undergrowth, Linear hyperpigmentation, Lipodystrophy, Lipoma, Lipomas of the central neryous system, Lobar holoprosencephaly, Long penis, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hemivertebrae, Macrocephaly, Malar flattening, Male hypogonadism, Mandibular prognathia, Meckel diverticulum, Microcephaly, Microdontia, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Multiple lipomas, Multiple unerupted teeth, Muscle stiffness, Mutism, Nasal obstruction, Neonatal hypotonia, Neoplasm of the skeletal system, Nevus flammeus, Non-midline cleft lip, Non-obstructive azoospermia, Nystagmus, Oligodontia, Omphalocele, Osteolysis, Osteopenia, Osteoporosis, Pelvic kidney, Peripheral pulmonary artery stenosis, Platyspondyly, Posteriorly rotated ears, Preauricular skin tag, Primary amenorrhea, Prominent supraorbital ridges, Proptosis, Protruding ear, Pseudoarthrosis, Ptosis, Pulmonary arterial hypertension, Reduced bone mineral density, Reduced number of teeth, Respiratory distress, Respiratory insufficiency, Retinopathy, Rhizomelia, Rigidity, Sclerocornea, Secondary amenorrhea, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Severe short stature, Shallow orbits, Short foot, Short hallux, Short metacarpal, Short metatarsal, Short middle phalanx of toe, Short neck, Short nose, Short palm, Short phalanx of finger, Short stature, Shortening of all middle phalanges of the fingers, Somatic mosaicism, Sparse body hair, Spasticity, Split hand, Sporadic, Strabismus, Subcortical cerebral atrophy, Subcutaneous lipoma, Subcutaneous nodule, Subvalvular aortic stenosis, Syndactyly, Synophrys, Telecanthus, Toe syndactyly, Tricuspid valve prolapse, Trigonocephaly, Unerupted tooth, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide intermamillary distance, Wide nasal bridge, Wide nose, Xanthomatosis
U4	ITPR2	1.036952327	0	Transport/cargo protein	BrainSpLMD|3709;Eurexp|euxassay_013833|mantle layer	OMIM|600144;HPO|3709|Anhidrosis, Autosomal recessive inheritance, Generalized anhidrosis, Heat intolerance
U4	FAM179B	1.036829363	0			
U4	PDPR	1.035745246	0		BrainSpLMD|55066	
U4	PSMG3	1.034523247	0	Unclassified	BrainSpLMD|84262	OMIM|617528
U4	SGPL1	1.034256657	0	Enzyme: Lyase	BrainSpLMD|8879;Eurexp|euxassay_009987|mantle layer, mesenchyme, metanephros, olfactory, renal/urinary system, thymus primordium	OMIM|603729
U4	HMBOX1	1.032875126	0	Transcription factor	BrainSpLMD|79618;Eurexp|euxassay_010119|basal columns, mantle layer;BrainSpMouseDev|85487	
U4	PROX1	1.032321956	0	Transcription factor	BrainSpLMD|5629;Eurexp|euxassay_004159|cardiovascular system, lens, liver, mantle layer, marginal layer, mesenchyme, pancreas, ventricle, ventricular layer;BrainSpMouseDev|18893	OMIM|601546
U4	JMY	1.032294458	0	Transcription regulatory protein	BrainSpLMD|133746	OMIM|604279
U4	LTN1	1.027799805	0	Ubiquitin proteasome system protein	BrainSpLMD|26046	OMIM|613083
U4	GARS	1.027386722	0	Enzyme: Ligase	BrainSpLMD|2617	OMIM|600287;HPO|2617|Autosomal dominant inheritance, Cold-induced hand cramps, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, First dorsal interossei muscle atrophy, First dorsal interossei muscle weakness, Hammertoe, Hyporeflexia, Onset, Pes cavus, Scoliosis, Slow progression, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness
U4	VPS72	1.027038287	0	Transcription factor	BrainSpLMD|6944	OMIM|600607
U4	PRPF38B	1.026163111	0	RNA binding protein	BrainSpLMD|55119	
U4	LUZP1	1.026150723	0	Transcription regulatory protein	BrainSpLMD|7798;Eurexp|euxassay_000241|cortex, epidermis, incisor, lung, oesophagus, oral epithelium, pharyngo-tympanic tube, submandibular gland primordium, ventricular layer, vibrissa	OMIM|601422
U4	PHGDH	1.025764229	0	Enzyme: Dehydrogenase	BrainSpLMD|26227	OMIM|606879;HPO|26227|Ablepharon, Abnormality of the philtrum, Absent eyelashes, Absent septum pellucidum, Adducted thumb, Agenesis of corpus callosum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Bifid uterus, Broad foot, Calcaneovalgus deformity, Camptodactyly, Cataract, Cerebellar hypoplasia, Cerebral dysmyelination, Choroid plexus cyst, Cleft palate, Cleft upper lip, Clinodactyly, Congenital cataract, Congenital microcephaly, Cryptorchidism, Dandy-Walker malformation, Decreased fetal movement, Decreased testicular size, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Finger syndactyly, Generalized edema, Growth delay, Hydranencephaly, Hypertelorism, Hypogonadism, Hypsarrhythmia, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Lack of skin elasticity, Large hands, Lissencephaly, Macrogyria, Macrotia, Megaloblastic anemia, Microcephaly, Micrognathia, Micromelia, Microphthalmia, Muscle cramps, Muscular dystrophy, Nystagmus, Opisthotonus, Pachygyria, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Polymicrogyria, Proptosis, Pterygium, Pulmonary hypoplasia, Radial deviation of finger, Renal agenesis, Rocker bottom foot, Seizures, Short neck, Short umbilical cord, Skeletal muscle atrophy, Sloping forehead, Small placenta, Spastic tetraplegia, Spina bifida, Stillbirth, Thick lower lip vermilion, Thick vermilion border, Thrombocytopenia, Toe syndactyly, Transposition of the great arteries, Trismus, Ventricular septal defect, Yellow subcutaneous tissue covered by thin, scaly skin
U4	DPH5	1.025253485	0	Unclassified	BrainSpLMD|51611	OMIM|611075
U4	AKIRIN2	1.025129679	0	Unclassified	BrainSpLMD|55122	OMIM|615165
U4	TMEM18	1.02380217	0	Integral membrane protein	BrainSpLMD|129787;Eurexp|euxassay_003177|lower jaw, submandibular gland primordium	OMIM|613220
U4	ECD	1.023107424	0	Transcription regulatory protein	BrainSpLMD|11319	OMIM|616464
U4	CACYBP	1.022482803	0	Ubiquitin proteasome system protein	BrainSpLMD|27101;Eurexp|euxassay_006213|brain, cervical, cervico-thoracic, cortex, diencephalon, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, left, mandible, maxilla, midbrain, molar, olfactory, orbito-sphenoid, right, spinal cord, submandibular gland primordium, telencephalon, thoracic, thymus primordium, trigeminal V, vertebral axis muscle system, vibrissa	OMIM|606186
U4	NFKBIZ	1.021161117	0	Transcription regulatory protein	BrainSpLMD|64332	OMIM|608004
U4	PDGFRA	1.020494975	0	Receptor tyrosine kinase	BrainSpLMD|5156;BrainSpMouseDev|18361	OMIM|173490;COSMIC||GIST, idiopathic hypereosinophilic syndrome, paediatric glioblastoma, GIST;HPO|5156|Abnormality of the nervous system, Autosomal dominant inheritance, Constipation, Dysphagia, Endocardial fibrosis, Eosinophilia, Fatigue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Hepatomegaly, Hyperpigmentation of the skin, Intestinal obstruction, Large hands, Myalgia, Myeloproliferative disorder, Nausea and vomiting, Neoplasm of the stomach, Neurofibromas, Pruritus, Pulmonary infiltrates, Restrictive cardiomyopathy, Sarcoma, Somatic mutation, Splenomegaly, Sporadic, Urticaria, Venous thrombosis
U4	KIAA1549L	1.020476425	0	Unclassified	BrainSpLMD|25758;Eurexp|euxassay_013276|facial VII, mantle layer, marginal layer, ventral grey horn	OMIM|612297
U4	NFATC2	1.018824984	0	Transcription factor	BrainSpLMD|4773;Eurexp|euxassay_013856|lip;BrainSpMouseDev|17786	OMIM|600490;COSMIC||Ewing sarcoma
U4	ZBTB5	1.017396759	0	Transcription factor	BrainSpLMD|9925	OMIM|616590
U4	NDUFAF7	1.016805402	0	Unclassified	BrainSpLMD|55471	OMIM|615898
U4	HSPA4L	1.016653432	0	Heat shock protein	BrainSpLMD|22824;Eurexp|euxassay_006441|cervico-thoracic, diencephalon, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, hindbrain, left, mantle layer, mesenchyme, midbrain, midgut, neural retina, olfactory, pituitary, posterior, right, skeletal muscle, spinal cord, thoracic, thymus primordium, trachea, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	
U4	XRCC6	1.016159034	0	DNA binding protein	BrainSpLMD|2547;Eurexp|euxassay_003500|axial muscle, left, orbito-sphenoid, pancreas, right, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|152690
U4	NAA25	1.015907384	0	Unclassified	BrainSpLMD|80018	OMIM|612755
U4	SYNE1	1.014296913	0	Unclassified	BrainSpLMD|23345	SFARI||Autism, 4 - Minimal evidence;OMIM|608441;HPO|23345|Adult onset, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Childhood onset, Dysarthria, Dysmetria, Elevated serum creatine phosphokinase, Gait ataxia, Left ventricular septal hypertrophy, Limb ataxia, Muscular dystrophy, Neck muscle weakness, Nystagmus, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Slow progression
U4	PJA1	1.01384649	0	Ubiquitin proteasome system protein	BrainSpLMD|64219	OMIM|300420
U4	RPL13AP5	1.01159391	0			
U4	HSPA6	1.009836551	0	Heat shock protein	BrainSpLMD|3310	OMIM|140555
U4	FBXO25	1.005262296	0	Ubiquitin proteasome system protein	BrainSpLMD|26260;Eurexp|euxassay_004436|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V	OMIM|609098
U4	PIGQ	1.003850198	0	Enzyme: Transferase	BrainSpLMD|9091;Eurexp|euxassay_006606|left, right	OMIM|605754
U4	ETV3	1.001425946	0	Transcription factor	BrainSpLMD|2117;BrainSpMouseDev|26794	OMIM|164873
U4	TRRAP	1.000165643	0	Transcription regulatory protein	BrainSpLMD|8295;Eurexp|euxassay_013672|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, molar, submandibular gland primordium, testis, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|603015;COSMIC||melanoma
U4	PITPNA	0.999972071	0	Transport/cargo protein	BrainSpLMD|5306	OMIM|600174
U4	MVB12B	0.999294882	0	Unclassified	BrainSpLMD|89853	
U4	DCTN1	0.998809726	0	Cytoskeletal protein	BrainSpLMD|1639	OMIM|601143;COSMIC||inflammatory myofibroblastic tumour, Spitzoid tumour, Distal hereditary motor neuronopathy, susceptibility to amyotrophic lateral sclerosis, Perry syndrome;HPO|1639|Abnormal lower motor neuron morphology, Abnormality of metabolism/homeostasis, Adult onset, Amyotrophic lateral sclerosis, Anxiety, Apathy, Autosomal dominant inheritance, Bradykinesia, Central hypoventilation, Depressivity, Distal amyotrophy, Distal muscle weakness, Dysarthria, Dyspnea, Emotional lability, Facial palsy, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Hand muscle atrophy, Hand muscle weakness, Hypoventilation, Inappropriate behavior, Insomnia, Lower limb muscle weakness, Mask-like facies, Muscle cramps, Neurodegeneration, Pain, Paralysis, Parkinsonism, Rapidly progressive, Respiratory failure, Respiratory insufficiency, Rigidity, Short stepped shuffling gait, Skeletal muscle atrophy, Sleep disturbance, Slow progression, Spasticity, Tremor, Vertical supranuclear gaze palsy, Vocal cord paralysis, Weak voice, Weight loss, Xerostomia
U4	SLC5A3	0.997549292	0	Transport/cargo protein	BrainSpLMD|6526;Eurexp|euxassay_019742|axial muscle, cervical region, choroid plexus, extrinsic ocular muscle, nasal septum, pelvic girdle, rectum, turbinate bones, ventricular layer	OMIM|600444
U4	ARFGEF2	0.995631535	0	Guanine nucleotide exchange factor	BrainSpLMD|10564	OMIM|605371;HPO|10564|Autosomal recessive inheritance, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile onset, Intellectual disability, Intellectual disability, severe, Microcephaly, Periventricular gray matter heterotopia, Poor eye contact, Progressive microcephaly, Seizures, Tetraparesis
U4	ERCC3	0.994225587	0	DNA repair protein	BrainSpLMD|2071	OMIM|133510;COSMIC||skin basal cell, skin squamous cell, melanoma;HPO|2071|Abnormal CNS myelination, Abnormality of amino acid metabolism, Abnormality of the dentition, Arteriosclerosis, Arthralgia, Ataxia, Autosomal recessive inheritance, Basal cell carcinoma, Basal ganglia calcification, Brittle hair, Cachexia, Cataract, Cerebellar atrophy, Coarse hair, Cognitive impairment, Confusion, Congenital nonbullous ichthyosiform erythroderma, Conjunctival telangiectasia, Cryptorchidism, Cutaneous melanoma, Cutaneous photosensitivity, Decreased fertility, Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, Dermal atrophy, Developmental regression, Diplopia, Dry skin, Dysarthria, EEG abnormality, Erythema, Failure to thrive, Fatigue, Fever, Freckling, Global developmental delay, Hearing impairment, Hydrocephalus, Hyperkeratosis, Hypermelanotic macule, Hyperreflexia, Hypogonadism, Hypopigmented skin patches, Increased cellular sensitivity to UV light, Intellectual disability, Intellectual disability, progressive, Keratitis, Melanoma, Microcephaly, Microphthalmia, Neoplasm, Numerous pigmented freckles, Nystagmus, Optic atrophy, Papilloma, Pigmentary retinopathy, Poikiloderma, Prematurely aged appearance, Progeroid facial appearance, Retinopathy, Sensorineural hearing impairment, Short stature, Skin rash, Spasticity, Squamous cell carcinoma of the skin, Strabismus, Telangiectasia of the skin, Thin skin, Tiger tail banding, Urticaria, Ventriculomegaly
U4	SLC19A2	0.99328397	0	Transport/cargo protein	BrainSpLMD|10560	OMIM|603941;HPO|10560|Abnormality of the skin, Aminoaciduria, Anorexia, Arrhythmia, Atrial septal defect, Autosomal recessive inheritance, Cone/cone-rod dystrophy, Diabetes mellitus, Diarrhea, Headache, Hoarse voice, Lethargy, Megaloblastic anemia, Nystagmus, Optic atrophy, Pallor, Paresthesia, Retinal degeneration, Sensorineural hearing impairment, Short stature, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia, Ventricular septal defect, Visual loss
U4	LZTS1	0.992778216	0	Unclassified	BrainSpLMD|11178;Eurexp|euxassay_011133|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|84266	OMIM|606551;HPO|11178|Autosomal dominant inheritance, Squamous cell carcinoma
U4	PSMD2	0.991967618	0	Ubiquitin proteasome system protein	BrainSpLMD|5708	OMIM|606223
U4	DIS3L	0.991087662	0	Unclassified	BrainSpLMD|115752	OMIM|614183
U4	ARF3	0.990964606	0	G protein	BrainSpLMD|377	OMIM|103190
U4	CNKSR3	0.990267453	0	Unclassified	BrainSpLMD|154043	OMIM|617476
U4	OTUB1	0.987480931	0	Ubiquitin proteasome system protein	BrainSpLMD|55611	OMIM|608337
U4	HSPH1	0.987036038	0	Heat shock protein;Chaperone	BrainSpLMD|10808	OMIM|610703
U4	SPON1	0.985785567	0	Extracellular matrix protein	BrainSpLMD|10418;Eurexp|euxassay_009887|aorta, mandible, mantle layer, marginal layer, maxilla, pharyngo-tympanic tube, ventral grey horn, ventricular layer	OMIM|604989
U4	VPS39	0.984930185	0	Transport/cargo protein	BrainSpLMD|23339	OMIM|612188
U4	MED23	0.984254223	0	Transcription regulatory protein	BrainSpLMD|9439;Eurexp|euxassay_005743|embryo	OMIM|605042;HPO|9439|Autosomal recessive inheritance, Intellectual disability
U4	OSBPL6	0.9841906	0	Transport/cargo protein	BrainSpLMD|114880;Eurexp|euxassay_000065|adrenal gland, cerebral cortex, dorsal root ganglion, epithelium, excretory component, facial VII, glossopharyngeal IX, hypothalamus, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lateral wall, nasal cavity, neural retina, oesophagus, olfactory lobe, pituitary, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|606734
U4	PPP2R1A	0.978782462	0	Serine/threonine phosphatase	BrainSpLMD|5518;Eurexp|euxassay_002761|dorsal root ganglion, facial VII, glossopharyngeal IX, inferior, nucleus pulposus, superior, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII	OMIM|605983;COSMIC||clear cell ovarian carcinoma;HPO|5518|Abnormal hair whorl, Anteverted nares, Autosomal dominant inheritance, Broad hallux, Congenital visual impairment, Delayed gross motor development, Delayed myelination, Deviation of the 5th finger, Downslanted palpebral fissures, Facial asymmetry, Facial hypotonia, Generalized hypotonia, Global developmental delay, Hydrocephalus, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Joint hypermobility, Open mouth, Pectus excavatum, Plagiocephaly, Prominent metopic ridge, Seizures, Tented upper lip vermilion, Ventriculomegaly
U4	DNAJA4	0.977110461	0	Unclassified	BrainSpLMD|55466;Eurexp|euxassay_012762|choroid invagination, choroid plexus, liver, roof plate	
U4	FKBP4	0.976615186	0	Enzyme: Isomerase	BrainSpLMD|2288	OMIM|600611
U4	XIST	0.974772146	0			OMIM|314670;HPO|7503|Spontaneous abortion
U4	SLC9B2	0.974145631	0	Unclassified	BrainSpLMD|133308;Eurexp|euxassay_006992|femur, incisor, lip, mandible, maxilla, stomach	OMIM|611789
U4	HADH	0.973846037	0	Enzyme: Dehydrogenase	BrainSpLMD|3033;Eurexp|euxassay_018543|adrenal gland, liver, lung, midgut, orbito-sphenoid, stomach, sublingual gland primordium, testis, thymus primordium, thyroid, trachea, turbinate, ventricular layer	OMIM|601609;HPO|3033|Abnormality of acetylcarnitine metabolism, Autosomal recessive inheritance, Confusion, Decreased activity of 3-hydroxyacyl-CoA dehydrogenase, Diarrhea, Dicarboxylic aciduria, Dilated cardiomyopathy, Elevated hepatic transaminases, Fasting hyperinsulinemia, Feeding difficulties in infancy, Fulminant hepatic failure, Growth delay, Hepatic necrosis, Hepatic steatosis, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, Hypoglycemic coma, Hypoglycemic encephalopathy, Hypoglycemic seizures, Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level, Intellectual disability, Intrauterine growth retardation, Lethargy, Muscular hypotonia, Myoglobinuria, Neonatal hypoglycemia, Neonatal hypotonia, Phenotypic variability, Proportionate short stature, Vomiting
U4	PDPN	0.973621203	0	Water channel	BrainSpLMD|10630;Eurexp|euxassay_002001|axial skeleton, submandibular gland primordium, ventricular layer;BrainSpMouseDev|14502	OMIM|608863
U4	PMP2	0.973000242	0	Transport/cargo protein	BrainSpLMD|5375	OMIM|170715
U4	CARS	0.971164615	0	Enzyme: Ligase	BrainSpLMD|833	OMIM|123859;COSMIC||ALCL
U4	SH3BP4	0.970437244	0	Adapter molecule	BrainSpLMD|23677;Eurexp|euxassay_001751|marginal layer	OMIM|605611
U4	DDHD1	0.970422652	0	Enzyme: Phospholipase	BrainSpLMD|80821;Eurexp|euxassay_003133|cervical, cervico-thoracic, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, incisor, lobe, marginal layer, mesenchyme, molar, naris, oesophagus, olfactory, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|614603;HPO|80821|Autosomal recessive inheritance, Babinski sign, Difficulty walking, Distal sensory impairment, Hyperreflexia, Juvenile onset, Lower limb muscle weakness, Lower limb spasticity, Pes cavus, Scoliosis, Slow progression, Spastic paraplegia
U4	TRIB2	0.969250008	0	Serine/threonine kinase	BrainSpLMD|28951;BrainSpMouseDev|85202	OMIM|609462
U4	FAM193A	0.967880474	0	DNA binding protein	BrainSpLMD|8603	
U4	RP11.543P15.1	0.964232888	0			
U4	TRIM37	0.962591907	0	Ubiquitin proteasome system protein	BrainSpLMD|4591	OMIM|605073;HPO|4591|Absent frontal sinuses, Astigmatism, Autosomal recessive inheritance, Cachexia, Congestive heart failure, Dental crowding, Depressed nasal bridge, Dolichocephaly, Dysarthria, Frontal bossing, Hepatomegaly, High pitched voice, Hypertelorism, Hypodontia, Hypoplastic frontal sinuses, Intrauterine growth retardation, J-shaped sella turcica, Macrocephaly, Microglossia, Muscular hypotonia, Myocardial fibrosis, Nephroblastoma, Nevus, Pericardial constriction, Pigmentary retinopathy, Reduced tendon reflexes, Short stature, Strabismus, Triangular face, Ventriculomegaly, Weak voice, Wide nasal bridge
U4	YWHAQP6	0.960588877	0			
U4	RNF150	0.959262759	0	Ubiquitin proteasome system protein	Eurexp|euxassay_014053|dorsal grey horn, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn, vestibulocochlear VIII	
U4	MCCC2	0.955957902	0	Enzyme: Carboxylase	BrainSpLMD|64087	OMIM|609014;HPO|64087|Abnormality of leucine metabolism, Abnormality of movement, Acute hyperammonemia, Alopecia, Autosomal recessive inheritance, Coma, Failure to thrive, Failure to thrive in infancy, Feeding difficulties, Generalized hypotonia, Global developmental delay, Heterogeneous, Hyperammonemia, Hyperglycinuria, Hyperreflexia, Hypoglycemia, Intellectual disability, Ketoacidosis, Lethargy, Metabolic acidosis, Muscular hypotonia, Opisthotonus, Organic aciduria, Phenotypic variability, Propionyl-CoA carboxylase deficiency, Seborrheic dermatitis, Seizures, Skeletal muscle atrophy, Vomiting
U4	SIVA1	0.954866924	0	Unclassified;Cell surface receptor	BrainSpLMD|10572	OMIM|605567
U4	GLT8D1	0.954297766	0	Unclassified;Enzyme: Transferase	BrainSpLMD|55830	
U4	AC009245.3	0.952797185	0			
U4	GGA2	0.951176337	0	Transport/cargo protein	BrainSpLMD|23062	OMIM|606005
U4	DHX8	0.949916066	0	RNA binding protein	BrainSpLMD|1659	OMIM|600396
U4	DKFZP586I1420	0.94826735	0			
U4	PRPF8	0.947816619	0	RNA binding protein	BrainSpLMD|10594	OMIM|607300;HPO|10594|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypopigmentation of the fundus, Hypoplasia of penis, Incomplete penetrance, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Retinal degeneration, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
U4	ZNF605	0.947007746	0			
U4	RCN1	0.94655132	0	Calcium binding protein	BrainSpLMD|5954;Eurexp|euxassay_006169|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, peripheral nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|19435	OMIM|602735
U4	ECHS1	0.945968476	0	Enzyme: Hydratase	BrainSpLMD|1892;Eurexp|euxassay_018892|adrenal gland, axial muscle, cortex, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|602292;HPO|1892|Apnea, Autosomal recessive inheritance, Dystonia, Generalized hypotonia, Global developmental delay, Increased CSF lactate, Increased serum lactate, Nystagmus, Spasticity
U4	FOXN3	0.944554358	0	Cell cycle control protein	BrainSpLMD|1112;BrainSpMouseDev|47216	OMIM|602628
U4	SEMA5B	0.944340681	0	Integral membrane protein	BrainSpLMD|54437;BrainSpMouseDev|20120	OMIM|609298
U4	CDCA7	0.943352428	0	Cell cycle control protein	BrainSpLMD|83879	OMIM|609937;HPO|83879|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Conductive hearing impairment, Cryptorchidism, Decreased antibody level in blood, Depressed nasal bridge, Flat face, Global developmental delay, Hypertelorism, Hypoplastic ischia, Hypospadias, Intellectual disability, Intrauterine growth retardation, Low-set ears, Lymphopenia, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Polydactyly, Recurrent respiratory infections, Short nose, Short stature, Strabismus
U4	PDRG1	0.943141649	0	Transcription regulatory protein	BrainSpLMD|81572	OMIM|610789
U4	NUP93	0.942098994	0	Membrane transport protein	BrainSpLMD|9688	OMIM|614351;HPO|9688|Autosomal recessive inheritance, Diffuse mesangial sclerosis, Hematuria, Progressive, Stage 5 chronic kidney disease
U4	HSPA1B	0.941707152	0	Chaperone	BrainSpLMD|3304	OMIM|603012
U4	PTPN13	0.940274336	0	Tyrosine phosphatase	BrainSpLMD|5783	OMIM|600267;COSMIC||lung, NSCLC, gastric, peritoneal carcinomatosis, hepatocellular
U4	GRIA4	0.9401085	0	Extracellular ligand gated channel	BrainSpLMD|2893;Eurexp|euxassay_006297|bladder, brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, ductus deferens, facial VII, incisor, loop, medulla, metanephros, molar, neural retina, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|14578	OMIM|138246
U4	RP11.16F15.1	0.936967913	0			
U4	DVL3	0.936895368	0	Adapter molecule	BrainSpLMD|1857;Eurexp|euxassay_012839|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII;BrainSpMouseDev|13323	SFARI||Autism, 4 - Minimal evidence;OMIM|601368;HPO|1857|Anteverted nares, Autosomal dominant inheritance, Bifid tongue, Brachydactyly, Cleft palate, Clinodactyly, Clinodactyly of the 5th finger, Clitoral hypoplasia, Cryptorchidism, Curly eyelashes, Depressed nasal bridge, Downturned corners of mouth, Epicanthus, Euryblepharon, Frontal bossing, Gingival overgrowth, Hemivertebrae, High, narrow palate, Hypertelorism, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic labia minora, Hypoplastic right heart, Long eyelashes, Long palpebral fissure, Long philtrum, Macrocephaly, Median cleft lip and palate, Mesomelia, Micrognathia, Micromelia, Midface retrusion, Open bite, Patent ductus arteriosus, Patent foramen ovale, Pectus excavatum, Prominent forehead, Proptosis, Pulmonary artery atresia, Retrognathia, Severe short stature, Short nose, Short palm, Short stature, Tricuspid regurgitation, Umbilical hernia, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge, Wide nose
U4	CNOT8	0.936285795	0	Transcription regulatory protein	BrainSpLMD|9337;Eurexp|euxassay_011364|incisor	OMIM|603731
U4	RPL34P18	0.9341409	0			
U4	PIGH	0.933712115	0	Enzyme: Glycosyltransferase	BrainSpLMD|5283	OMIM|600154
U4	ATG2B	0.932039299	0	Unclassified	BrainSpLMD|55102	OMIM|616226
U4	HAS2	0.926698344	0	Enzyme: Glycosyltransferase	BrainSpLMD|3037	OMIM|601636
U4	RAF1	0.924322422	0	Serine/threonine kinase	BrainSpLMD|5894	OMIM|164760;COSMIC||pilocytic astrocytoma, prostate;HPO|5894|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal facial shape, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of the pulmonary artery, Abnormality of the spleen, Abnormality of the sternum, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrioventricular canal defect, Autosomal dominant inheritance, Bundle branch block, Cafe-au-lait spot, Coarse hair, Cryptorchidism, Cubitus valgus, Curly hair, Cystic hygroma, Decreased fertility, Delayed skeletal maturation, Depressed nasal bridge, Dilated cardiomyopathy, Dolichocephaly, Downslanted palpebral fissures, Dry skin, Dysarthria, Enlarged thorax, Epicanthus, Feeding difficulties in infancy, Freckling, Global developmental delay, Hepatomegaly, High forehead, High palate, Hyperextensible skin, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadotrophic hypogonadism, Intrauterine growth retardation, Joint hyperflexibility, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Mandibular prognathia, Melanocytic nevus, Micrognathia, Midface retrusion, Mitral regurgitation, Mitral valve prolapse, Multiple lentigines, Muscle weakness, Muscular hypotonia, Pectus carinatum, Pectus excavatum, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Scapular winging, Scoliosis, Severe sensorineural hearing impairment, Short neck, Short stature, Sprengel anomaly, Strabismus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Triangular face, Webbed neck, Wide intermamillary distance, Wide nasal bridge
U4	ATP1A1	0.921944532	0	ATPase	BrainSpLMD|476;BrainSpMouseDev|11714	OMIM|182310;COSMIC||adrenal aldosterone producing adenoma
U4	FTH1P8	0.920654983	0			
U4	TSR1	0.917499049	0	Unclassified	BrainSpLMD|55720	OMIM|611214
U4	RIOK3	0.917338483	0	Cell cycle control protein	BrainSpLMD|8780;Eurexp|euxassay_018808|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|603579
U4	RCBTB2	0.915425262	0	Guanine nucleotide exchange factor	BrainSpLMD|1102	OMIM|603524
U4	FBXO42	0.912887698	0	Unclassified;Ubiquitin proteasome system protein	BrainSpLMD|54455;Eurexp|euxassay_005149|brain, glossopharyngeal IX, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|609109
U4	DNER	0.912875488	0	Cell surface receptor	BrainSpLMD|92737;Eurexp|euxassay_003135|axial skeleton, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, extrinsic ocular muscle, facial VII, foregut-midgut junction, glossopharyngeal IX, head mesenchyme, hindbrain, hindgut, limb, mantle layer, marginal layer, mesenchyme, midbrain, midgut, neural retina, nucleus pulposus, olfactory, penis, skeletal muscle, spinal cord, stomach, stroma, tail, thoracic, tongue, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|86552	SFARI||Autism, 4 - Minimal evidence;OMIM|607299
U4	8-Mar	0.911504617	0			
U4	NUDT15	0.911451892	0	Enzyme: Hydrolase	BrainSpLMD|55270;Eurexp|euxassay_007037|embryo	OMIM|615792
U4	TBC1D31	0.905029573	0	Unclassified	BrainSpLMD|93594	SFARI||Autism, No category
U4	RRM2B	0.904419655	0	Enzyme: Reductase	BrainSpLMD|50484	OMIM|604712;HPO|50484|Abnormality of retinal pigmentation, Aminoaciduria, Anterior hypopituitarism, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cachexia, Depressivity, Dysarthria, EMG abnormality, Exercise intolerance, External ophthalmoplegia, Failure to thrive, Feeding difficulties, Gait ataxia, Generalized hypotonia, Hearing impairment, Increased muscle fatiguability, Intellectual disability, Lactic acidosis, Multiple mitochondrial DNA deletions, Muscular hypotonia, Progressive, Progressive external ophthalmoplegia, Progressive intervertebral space narrowing, Progressive neurologic deterioration, Proximal tubulopathy, Ragged-red muscle fibers, Reduced tendon reflexes, Seizures, Skeletal muscle atrophy, Third degree atrioventricular block
U4	YAF2	0.904246184	0	Transcription regulatory protein	BrainSpLMD|10138;Eurexp|euxassay_008132|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|607534
U4	HUWE1	0.903004134	0	DNA binding protein	BrainSpLMD|10075	SFARI||Autism, No category;OMIM|300697;HPO|10075|Coarse facial features, Delayed speech and language development, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Intellectual disability, severe, Limited elbow extension, Macrocephaly, Tapered finger, X-linked inheritance
U4	IFIT2	0.901914839	0	Cytoskeletal associated protein	BrainSpLMD|3433;Eurexp|euxassay_018460|mantle layer, ventricular layer, vertebral axis muscle system	OMIM|147040
U4	ALS2	0.900966474	0	Guanine nucleotide exchange factor	BrainSpLMD|57679;Eurexp|euxassay_002036|brain, dorsal root ganglion, spinal cord, thymus primordium, trigeminal V	OMIM|606352;HPO|57679|Abnormal lower motor neuron morphology, Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Abnormality of eye movement, Abnormality of the corticospinal tract, Abnormality of the eye, Abnormality of the face, Achilles tendon contracture, Amyotrophic lateral sclerosis, Anarthria, Autosomal recessive inheritance, Babinski sign, Cerebral cortical atrophy, Chewing difficulties, Childhood onset, Decreased muscle mass, Difficulty in tongue movements, Distal amyotrophy, Drooling, Dysarthria, Dysphagia, EMG abnormality, EMG: chronic denervation signs, Gait disturbance, Gait imbalance, Hand muscle atrophy, Hyperreflexia, Infantile onset, Juvenile onset, Loss of speech, Lower limb spasticity, Motor delay, Muscle weakness, Pes cavus, Progressive, Pseudobulbar behavioral symptoms, Saccadic smooth pursuit, Scoliosis, Slow progression, Slow saccadic eye movements, Spastic dysarthria, Spastic gait, Spastic paraplegia, Spastic tetraparesis, Spastic tetraplegia, Spasticity, Spasticity of facial muscles, Spasticity of pharyngeal muscles, Tetraplegia, Upper limb spasticity, Urinary incontinence
U4	UGGT1	0.9004287	0	Enzyme: Glycosyltransferase	BrainSpLMD|56886	OMIM|605897
U4	PHF21B	0.896795384	0	DNA binding protein	BrainSpLMD|112885;Eurexp|euxassay_008948|brain, spinal cord	OMIM|616727
U4	PDP1	0.896573691	0	Serine/threonine phosphatase	BrainSpLMD|54704	OMIM|605993;HPO|54704|Autosomal recessive inheritance, Decreased activity of the pyruvate dehydrogenase complex, Dysphagia, Gait ataxia, Generalized hypotonia, Global developmental delay, Infantile onset, Intellectual disability, Lactic acidosis, Nystagmus, Seizures
U4	FIG4	0.895946793	0	Enzyme: Phospholipase	BrainSpLMD|9896;Eurexp|euxassay_000085|cerebral cortex, dorsal root ganglion, marginal layer, nucleus pulposus, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|609390;HPO|9896|Abnormality of blood and blood-forming tissues, Abnormality of the neck, Abnormality of the scapula, Absent nipple, Absent sternal ossification, Absent thumb, Agenesis of corpus callosum, Aggressive behavior, Amyotrophic lateral sclerosis, Ankle contracture, Anteverted nares, Anxiety, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the nails, Aplastic clavicles, Areflexia, Arrhinencephaly, Autosomal dominant inheritance, Autosomal recessive inheritance, Axonal loss, Broad secondary alveolar ridge, Bulbar signs, Cardiomyopathy, Cataract, Cryptorchidism, Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Decreased skull ossification, Depressivity, Distal arthrogryposis, Distal muscle weakness, Distal sensory impairment, Dolichocephaly, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Focal seizures with impairment of consciousness or awareness, Frequent falls, Gait disturbance, Generalized hypotonia, Generalized muscle weakness, Hearing impairment, Hip dislocation, Hydrops fetalis, Hypertelorism, Hypoplastic facial bones, Hyporeflexia, Hypospadias, Intrauterine growth retardation, Large fontanelles, Low-set ears, Microcephaly, Micrognathia, Micropenis, Muscle cramps, Neurodegeneration, Onion bulb formation, Pachygyria, Pain, Paralysis, Peripheral hypomyelination, Polyhydramnios, Polymicrogyria, Premature birth, Premature loss of primary teeth, Progressive, Proptosis, Pulmonary arterial hypertension, Pyloric stenosis, Respiratory failure, Sclerocornea, Severe failure to thrive, Severe global developmental delay, Short clavicles, Short finger, Short philtrum, Short toe, Short upper lip, Single transverse palmar crease, Skeletal muscle atrophy, Small earlobe, Sparse and thin eyebrow, Sparse eyelashes, Sparse scalp hair, Spasticity, Status epilepticus, Tapered finger, Tapered toe, Tetralogy of Fallot, Thin vermilion border, Toe syndactyly, Upper motor neuron dysfunction, Upslanted palpebral fissure, Variable expressivity, Ventricular septal defect, Ventriculomegaly, Visual hallucinations, Xerostomia
U4	TXNRD1	0.895120653	0	Enzyme: Oxidoreductase	BrainSpLMD|7296;Eurexp|euxassay_018922|axial muscle, clavicle, dorsal root ganglion, incisor, liver, lung, mandible, mantle layer, maxilla, molar, neural retina, olfactory, pancreas, pharyngo-tympanic tube, rib, submandibular gland primordium, thymus primordium, thyroid, ventral grey horn, ventricular layer, vibrissa	OMIM|601112
U4	PCSK7	0.894761324	0	Serine protease	BrainSpLMD|9159	OMIM|604872
U4	NUDT10	0.893677031	0	Enzyme: Phosphohydrolase	BrainSpLMD|170685;Eurexp|euxassay_003856|brain, cervical, cervico-thoracic, glossopharyngeal IX, incisor, lung, metanephros, molar, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|300527
U4	LRIG1	0.893170802	0	Cell surface receptor	BrainSpLMD|26018	OMIM|608868
U4	E2F2	0.892860718	0	Transcription factor	BrainSpLMD|1870;BrainSpMouseDev|88998	OMIM|600426
U4	CCT4	0.890355443	0	Chaperone	BrainSpLMD|10575	SFARI||Autism, 3 - Suggestive evidence;OMIM|605142
U4	FAM32A	0.883722407	0	Unclassified	BrainSpLMD|26017	OMIM|614554
U4	AP4B1	0.882435229	0	Transport/cargo protein	BrainSpLMD|10717	OMIM|607245;HPO|10717|Abnormality of the periventricular white matter, Acetabular dysplasia, Autosomal recessive inheritance, Babinski sign, Bulbous nose, Coarse facial features, Congenital onset, Delayed speech and language development, Dysarthria, Dystonia, Flexion contracture, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Intellectual disability, severe, Microcephaly, Narrow forehead, Neonatal hypotonia, Seizures, Short philtrum, Slow progression, Spastic paraplegia, Ventriculomegaly, Waddling gait, Wide mouth
U4	UTP15	0.881778929	0	Unclassified	BrainSpLMD|84135	OMIM|616194
U4	USP13	0.880962216	0	Ubiquitin proteasome system protein	BrainSpLMD|8975	OMIM|603591
U4	NOC3L	0.88084482	0	Unclassified	BrainSpLMD|64318;Eurexp|euxassay_001504|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, nucleus pulposus, olfactory, thoracic, trigeminal V, urethra, vagus X, ventral grey horn	OMIM|610769
U4	ZNF544	0.879623229	0	DNA binding protein	BrainSpLMD|27300	
U4	SMC5	0.876729153	0	Unclassified	BrainSpLMD|23137	OMIM|609386
U4	COG5	0.875827157	0	Structural protein;Transport/cargo protein	BrainSpLMD|10466	OMIM|606821;HPO|10466|Atrophy/Degeneration affecting the brainstem, Autosomal recessive inheritance, Cerebellar atrophy, Intellectual disability, Muscular hypotonia, Truncal ataxia, Type I transferrin isoform profile
U4	ERCC6L2	0.874600778	0	Unclassified;RNA helicase	BrainSpLMD|375748	OMIM|615667;HPO|375748|Anemia, Autosomal recessive inheritance, Bone marrow hypocellularity, Leukopenia, Microcephaly, Neonatal hypotonia, Thrombocytopenia
U4	ARID5B	0.869715064	0	DNA binding protein	Eurexp|euxassay_016566|mantle layer;BrainSpMouseDev|47212	OMIM|608538
U4	ELF1	0.869466494	0	Transcription factor	BrainSpLMD|1997;Eurexp|euxassay_019460|bladder, epidermis, epithelium, hindgut, incisor, larynx, liver, lung, metanephros, midgut, oesophagus, olfactory, oral epithelium, pancreas, pharyngo-tympanic tube, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, vibrissa;BrainSpMouseDev|13487	OMIM|189973
U4	C17orf85	0.867163062	0			
U4	SCGN	0.865695676	0	Calcium binding protein	BrainSpLMD|10590;Eurexp|euxassay_002978|mantle layer, marginal layer, pancreas, pituitary	OMIM|609202
U4	DDX26B	0.864282531	0			
U4	ABCA5	0.860501573	0	Membrane transport protein	BrainSpLMD|23461	OMIM|612503;HPO|23461|Coarse facial features, Delayed eruption of teeth, EEG abnormality, Generalized hirsutism, Gingival fibromatosis, Gingival overgrowth
U4	ZNF3	0.858624494	0	DNA binding protein	BrainSpLMD|7551	OMIM|194510
U4	PIK3CA	0.857735286	0	Lipid Kinase	BrainSpLMD|5290	OMIM|171834;COSMIC||colorectal, gastric, glioblastoma, breast;HPO|5290|Abdominal pain, Abnormality of cardiovascular system morphology, Abnormality of metabolism/homeostasis, Abnormality of the cardiovascular system, Abnormality of the cerebral vasculature, Abnormality of the penis, Adenoma sebaceum, Adult onset, Alveolar cell carcinoma, Angioid streaks of the retina, Anxiety, Aplasia/Hypoplasia of the cerebellum, Arteriovenous malformation, Asymmetric growth, Ataxia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast carcinoma, Broad forehead, Capillary malformation, Cataract, Cavernous hemangioma, Cavum septum pellucidum, Cognitive impairment, Colon cancer, Colonic diverticula, Colorectal polyposis, Conjunctival hamartoma, Constipation, Cranial hyperostosis, Cutis marmorata, Death in early adulthood, Death in infancy, Depressed nasal bridge, Depressivity, Downslanted palpebral fissures, Dysgerminoma, Epicanthus, Facial asymmetry, Failure to thrive, Fatigue, Fibroadenoma of the breast, Finger syndactyly, Foot polydactyly, Frontal bossing, Full cheeks, Furrowed tongue, Gastrointestinal hemorrhage, Generalized hyperkeratosis, Generalized hypotonia, Glioblastoma, Global developmental delay, Goiter, Gynecomastia, Hamartomatous polyposis, Hand polydactyly, Hearing impairment, Hemihypertrophy, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Hernia, Heterogeneous, High forehead, High palate, Hydrocele testis, Hydrocephalus, Hypermelanotic macule, Hypertelorism, Hyperthyroidism, Hypertonia, Hypoplasia of the maxilla, Hypothyroidism, Increased intracranial pressure, Intellectual disability, Intention tremor, Irritability, Joint hyperflexibility, Joint laxity, Kyphosis, Large earlobe, Leukemia, Lipoma, Macrocephaly, Macrodactyly, Macroglossia, Macule, Malabsorption, Megalencephaly, Melanocytic nevus, Meningioma, Micrognathia, Micronodular cirrhosis, Microphthalmia, Migraine, Mucosal telangiectasiae, Muscular hypotonia, Myopia, Narrow mouth, Nausea and vomiting, Neoplasm of the rectum, Neoplasm of the stomach, Nephroblastoma, Nevus flammeus, Numerous nevi, Ovarian cyst, Ovarian papillary adenocarcinoma, Overgrowth, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Papilloma, Papule, Pectus excavatum, Polydactyly, Polymicrogyria, Progressive macrocephaly, Renal cell carcinoma, Sandal gap, Scoliosis, Seizures, Skin tags, Smooth philtrum, Somatic mutation, Splenomegaly, Sporadic, Stomach cancer, Subacute progressive viral hepatitis, Subcutaneous lipoma, Subcutaneous nodule, Syndactyly, Telangiectasia of the skin, Thyroid adenoma, Thyroiditis, Toe syndactyly, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Varicocele, Venous malformation, Ventricular septal defect, Ventriculomegaly, Verrucae, Visceral angiomatosis, Weight loss, Wide mouth
U4	AL133243.2	0.857664565	0			
U4	ZNF780A	0.857178465	0	DNA binding protein		
U4	ENO1	0.856869269	0	Enzyme: Hydratase	BrainSpLMD|2023	OMIM|172430
U4	ALKBH1	0.854322337	0	DNA repair protein	BrainSpLMD|8846	OMIM|605345
U4	PTOV1	0.849286432	0	Cell cycle control protein	BrainSpLMD|53635	OMIM|610195
U4	NUP133	0.842989401	0	Transport/cargo protein	BrainSpLMD|55746	SFARI||Autism, 4 - Minimal evidence;OMIM|607613
U4	EIF4ENIF1	0.842726138	0	Translation regulatory protein	BrainSpLMD|56478	OMIM|607445
U4	PIK3R1	0.84161412	0	Adapter molecule	BrainSpLMD|5295;Eurexp|euxassay_003253|incisor, lobe, ventricular layer, vibrissa;BrainSpMouseDev|18473	OMIM|171833;COSMIC||glioblastoma, ovarian, colorectal;HPO|5295|Abnormality of dental enamel, Abnormality of the immune system, Abnormality of the pupil, Agammaglobulinemia, Alopecia, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Birth length less than 3rd percentile, Cataract, Chronic otitis media, Clinodactyly, Conjunctivitis, Cough, Decreased antibody level in blood, Deeply set eye, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Dental malocclusion, Diabetes mellitus, Diarrhea, Dimple chin, Downturned corners of mouth, Enlarged epiphyses, Excessive wrinkled skin, Failure to thrive, Fatigue, Fever, Frontal bossing, Glaucoma, Glucose intolerance, Hyperglycemia, Hypodontia, Hypoplasia of the iris, Hypotrichosis, Immunodeficiency, Infantile onset, Inguinal hernia, Insulin resistance, Insulin-resistant diabetes mellitus, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Lipoatrophy, Lipodystrophy, Macrotia, Megalocornea, Microdontia, Micrognathia, Midface retrusion, Myopia, Neurological speech impairment, Neutropenia, Osteomyelitis, Poor appetite, Premature skin wrinkling, Prominent forehead, Radial deviation of finger, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent skin infections, Rieger anomaly, Sensorineural hearing impairment, Severe short stature, Sinusitis, Skin rash, Small for gestational age, Telecanthus, Thin skin, Triangular face, Underdeveloped nasal alae, Weight loss, Wide nasal bridge
U4	SPRY2	0.841506986	0	Unclassified	BrainSpLMD|10253	OMIM|602466
U4	PPP2CA	0.837766163	0	Serine/threonine phosphatase	BrainSpLMD|5515	OMIM|176915
U4	BRD8	0.836577884	0	Transcription regulatory protein	BrainSpLMD|10902;Eurexp|euxassay_019636|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	OMIM|602848
U4	LSAMP	0.833265351	0	Adhesion molecule	BrainSpLMD|4045	OMIM|603241
U4	SHC3	0.830935307	0	Adapter molecule	BrainSpLMD|53358;Eurexp|euxassay_009466|cochlear duct, ventral grey horn, ventricular layer	OMIM|605263
U4	PAPSS1	0.830934661	0	Enzyme: Synthase	BrainSpLMD|9061	OMIM|603262
U4	TCF7L1.IT1	0.829825181	0			
U4	CCDC6	0.82951201	0	Unclassified;Cell cycle control protein	BrainSpLMD|8030	OMIM|601985;COSMIC||papillary thyroid, CML, NSCLC;HPO|8030|Autosomal dominant inheritance, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma
U4	SLC48A1	0.82745184	0	Transport/cargo protein	BrainSpLMD|55652	OMIM|612187
U4	RHNO1	0.82721378	0	Unclassified	BrainSpLMD|83695;Eurexp|euxassay_001503|cortex, neural retina, ventricular layer	OMIM|614085
U4	TOPORS	0.826048463	0	Ubiquitin proteasome system protein	BrainSpLMD|10210	OMIM|609507;HPO|10210|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Attenuation of retinal blood vessels, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Retinal pigment epithelial atrophy, Rod-cone dystrophy, Sensorineural hearing impairment, Visual field defect, Wide nasal bridge
U4	PDZRN4	0.823350724	0	Unclassified	BrainSpLMD|29951;Eurexp|euxassay_013149|axial skeleton, basioccipital bone, femur, fibula, humerus, mantle layer, phalanx, rib, scapula, tibia	OMIM|609730
U4	SUPT7L	0.822816126	0	Transcription regulatory protein	BrainSpLMD|9913	OMIM|612762
U4	LRRC8A	0.816900471	0	Unclassified;Integral membrane protein	BrainSpLMD|56262	OMIM|608360;HPO|56262|Agammaglobulinemia, Arthritis, Autosomal dominant inheritance, Chronic otitis media, Conjunctivitis, Cough, Diarrhea, Epicanthus, Failure to thrive, Fatigue, Fever, High palate, Hypertelorism, Immunodeficiency, Low-set ears, Osteomyelitis, Recurrent respiratory infections, Recurrent skin infections, Sinusitis, Skin rash
U4	ZNF8	0.816854156	0	Transcription regulatory protein	BrainSpLMD|7554	SFARI||Autism, 5 - Hypothesized but untested;OMIM|194532
U4	MORC4	0.816575865	0	Unclassified	BrainSpLMD|79710	OMIM|300970
U4	BTBD7	0.815585113	0	Unclassified;Transcription factor	BrainSpLMD|55727	OMIM|610386
U4	DLX6	0.812634885	0	Transcription factor	BrainSpLMD|1750;BrainSpMouseDev|13175	SFARI||Autism, 4 - Minimal evidence;OMIM|600030;HPO|1750|Finger syndactyly, Oligodactyly
U4	SMAD1	0.81213802	0	Transcription regulatory protein	BrainSpLMD|4086;Eurexp|euxassay_018467|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|16895	OMIM|601595
U4	TMEM2	0.811687658	0	Integral membrane protein	BrainSpLMD|23670	OMIM|605835
U4	PCDH11X	0.810097096	0	Cell junction protein	BrainSpLMD|27328;Eurexp|euxassay_015176|bladder, extrinsic ocular muscle, mantle layer, metatarsus, olfactory, phalanx, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|89410	SFARI||Autism, 4 - Minimal evidence;OMIM|300246
U4	TXLNA	0.809447192	0	Unclassified	BrainSpLMD|200081;Eurexp|euxassay_005956|embryo	OMIM|608676
U4	RPN2	0.808086149	0	Enzyme: Glycosyltransferase	BrainSpLMD|6185;Eurexp|euxassay_018263|embryo	OMIM|180490
U4	LINC01138	0.806688823	0		BrainSpLMD|388685	
U4	ZNF583	0.806551502	0	Transcription regulatory protein	BrainSpLMD|147949	
U4	MTDH	0.806157824	0	Unclassified	BrainSpLMD|92140	OMIM|610323
U4	UCP2	0.796540126	0	Transport/cargo protein	BrainSpLMD|7351;Eurexp|euxassay_010584|liver, olfactory, vibrissa, vomeronasal organ	OMIM|601693;HPO|7351|Abnormality of fatty-acid metabolism, Coma, Diarrhea, Hepatomegaly, Hyperhidrosis, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Neonatal hypoglycemia, Pallor, Pancreatic islet-cell hyperplasia, Progressive neurologic deterioration, Tachycardia, Vomiting
U4	KDM3A	0.796453889	0	Unclassified	BrainSpLMD|55818	OMIM|611512
U4	USP42	0.79595496	0	Ubiquitin proteasome system protein		
U4	UBR1	0.79292143	0	Ubiquitin proteasome system protein	BrainSpLMD|197131	OMIM|605981;HPO|197131|Abnormal hair pattern, Abnormality of the nail, Abnormality of the vagina, Absent lacrimal punctum, Agenesis of permanent teeth, Alopecia, Anal atresia, Anasarca, Anemia, Anteriorly placed anus, Aplasia cutis congenita of scalp, Atrial septal defect, Autosomal recessive inheritance, Cafe-au-lait spot, Calvarial skull defect, Clinodactyly of the 5th finger, Clitoral hypertrophy, Colonic diverticula, Convex nasal ridge, Cryptorchidism, Death in childhood, Delayed eruption of teeth, Delayed skeletal maturation, Diabetes mellitus, Exocrine pancreatic insufficiency, Failure to thrive, Fair hair, Frontal upsweep of hair, Generalized hypotonia, Hydronephrosis, Hypocalcemia, Hypoplasia of the primary teeth, Hypoplastic nipples, Hypoproteinemia, Hypospadias, Hypothyroidism, Increased circulating very-low-density lipoprotein levels, Intellectual disability, Intrauterine growth retardation, Joint laxity, Lacrimation abnormality, Malabsorption, Microcephaly, Microdontia, Micropenis, Midline skin dimples over anterior/posterior fontanelles, Oligodontia, Rectovaginal fistula, Sensorineural hearing impairment, Septate vagina, Short nose, Short stature, Single transverse palmar crease, Situs inversus totalis, Small for gestational age, Sparse scalp hair, Strabismus, Underdeveloped nasal alae, Urethrovaginal fistula, Ventricular septal defect
U4	NOTCH2	0.791310325	0	Cell surface receptor	BrainSpLMD|4853;Eurexp|euxassay_015406|alimentary system, cardiovascular system, cavities and their linings, choroid plexus, gland, integumental system, limb, marginal layer, meninges, mesenchyme, olfactory, renal/urinary system, reproductive system, respiratory system, skeleton, tail, ventricular layer, vertebral axis muscle system, vomeronasal organ;BrainSpMouseDev|17896	OMIM|600275;COSMIC||marginal zone lymphoma, DLBCL, bladder, Hajdu-Cheney syndrome, serpentine fibula-polycystic kidney syndrome;HPO|4853|Abnormality of the cardiac septa, Abnormality of the fingernails, Absent frontal sinuses, Anteverted nares, Arnold-Chiari malformation, Arthralgia, Atrial septal defect, Autosomal dominant inheritance, Basilar impression, Biconcave vertebral bodies, Bone pain, Brachydactyly, Broad forehead, Cervical instability, Cholestasis, Cholestatic liver disease, Coarse facial features, Conductive hearing impairment, Crowded carpal bones, Cryptorchidism, Decreased skull ossification, Dental malocclusion, Dislocated radial head, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Elongated sella turcica, Epicanthus, Failure to thrive, Foot acroosteolysis, Full cheeks, Generalized hirsutism, Genu valgum, Hearing impairment, Hematuria, High palate, Hirsutism, Hydrocephalus, Hypertelorism, Hypertension, Hypoplastic 5th lumbar vertebrae, Hypospadias, Inguinal hernia, Joint hyperflexibility, Joint laxity, Kyphoscoliosis, Large earlobe, Long eyelashes, Long nose, Long philtrum, Low-set ears, Macrocephaly, Micrognathia, Narrow mouth, Open bite, Osteolysis, Osteolytic defects of the phalanges of the hand, Osteopenia, Osteoporosis, Partial absence of toe, Patent ductus arteriosus, Pathologic fracture, Periodontitis, Peripheral pulmonary artery stenosis, Phenotypic variability, Platybasia, Pointed chin, Posterior embryotoxon, Premature loss of teeth, Prominent occiput, Proteinuria, Pulmonic stenosis, Recurrent fractures, Renal cyst, Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Scoliosis, Short distal phalanx of finger, Short nail, Short neck, Short stature, Short toe, Skeletal dysplasia, Synophrys, Tall lumbar vertebral bodies, Telecanthus, Tetralogy of Fallot, Thick eyebrow, Thin vermilion border, Triangular face, Umbilical hernia, Vertebral compression fractures, Wide nose, Wormian bones
U4	ALKBH5	0.790881357	0	Unclassified	BrainSpLMD|54890	OMIM|613303
U4	WDR82	0.787521079	0	Integral membrane protein	BrainSpLMD|80335	OMIM|611059
U4	AGK	0.785063747	0	Lipid Kinase	BrainSpLMD|55750;Eurexp|euxassay_001595|cervical, cervico-thoracic, dorsal root ganglion, thoracic	OMIM|610345;HPO|55750|3-Methylglutaconic aciduria, Autosomal recessive inheritance, Cataract, Congenital cataract, Easy fatigability, Exercise intolerance, Exercise-induced lactic acidemia, Fatigue, Generalized hypotonia, Glaucoma, Growth delay, Hypertrophic cardiomyopathy, Increased serum lactate, Infantile onset, Lactic acidosis, Mitochondrial myopathy, Motor delay, Muscle weakness, Myopathy, Myopia, Nystagmus, Respiratory insufficiency, Strabismus, Variable expressivity
U4	MTHFD2	0.784064469	0	Enzyme: Dehydrogenase	BrainSpLMD|10797	OMIM|604887
U4	METTL17	0.783120099	0	Unclassified	BrainSpLMD|64745	OMIM|616091
U4	PDZRN3	0.782873954	0	Unclassified	BrainSpLMD|23024;Eurexp|euxassay_000356|mantle layer	OMIM|609729
U4	PROM1	0.779906642	0	Integral membrane protein	BrainSpLMD|8842;BrainSpMouseDev|18889	OMIM|604365;HPO|8842|Abnormal electroretinogram, Abnormality of color vision, Abnormality of macular pigmentation, Abnormality of retinal pigmentation, Abnormality of the choroid, Abnormality of the fovea, Abnormality of the retinal vasculature, Abnormality of the testis, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the macula, Atypical scarring of skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cataract, Central scotoma, Conductive hearing impairment, Cone/cone-rod dystrophy, Dyschromatopsia, Glaucoma, Granular macular appearance, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Macular degeneration, Macular dystrophy, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paroxysmal involuntary eye movements, Perifoveal ring of hyperautofluorescence, Peripheral visual field loss, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Retinal thinning, Rod-cone dystrophy, Sensorineural hearing impairment, Undetectable electroretinogram, Wide nasal bridge, Yellow/white lesions of the macula
U4	NCAM2	0.77922855	0	Adhesion molecule	BrainSpLMD|4685;BrainSpMouseDev|17735	OMIM|602040
U4	EIF5	0.775707882	0	Translation regulatory protein;GTPase activating protein	BrainSpLMD|1983	OMIM|601710
U4	GDF11	0.775146046	0	Growth factor	BrainSpLMD|10220;Eurexp|euxassay_013538|olfactory;BrainSpMouseDev|14337	OMIM|603936
U4	RBM33	0.774884845	0	RNA binding protein	BrainSpLMD|155435;Eurexp|euxassay_008530|embryo	
U4	INTS8	0.774149777	0	Unclassified	BrainSpLMD|55656	OMIM|611351
U4	RBM28	0.773399171	0	RNA binding protein	BrainSpLMD|55131	OMIM|612074;HPO|55131|Alopecia, Autosomal recessive inheritance, Carious teeth, Central adrenal insufficiency, Delayed puberty, Flexion contracture, Gynecomastia, Hyperpigmentation of the skin, Hypodontia, Hypogonadism, Intellectual disability, Kyphoscoliosis, Melanocytic nevus, Microcephaly, Motor deterioration, Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Ulnar deviation of the hand, Upper motor neuron dysfunction
U4	SUDS3	0.77272962	0	Transcription regulatory protein	BrainSpLMD|64426	OMIM|608250
U4	PHLPP1	0.772015726	0	Unclassified	BrainSpLMD|23239;Eurexp|euxassay_010722|ventricular layer	OMIM|609396
U4	HMCES	0.771997354	0	Unclassified	BrainSpLMD|56941	
U4	LSG1	0.771891504	0	GTPase	BrainSpLMD|55341	OMIM|610780
U4	SEMA5A	0.771356607	0	Unclassified	BrainSpLMD|9037;BrainSpMouseDev|20119	SFARI||Autism, 3 - Suggestive evidence;OMIM|609297;HPO|9037|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
U4	LPHN3	0.770847584	0			
U4	RP11.587D21.1	0.770484813	0			
U4	PRDM4	0.770239648	0	Transcription factor	BrainSpLMD|11108	OMIM|605780
U4	MEG3	0.769939713	0			OMIM|605636
U4	HSPA4	0.768567223	0	Chaperone	BrainSpLMD|3308	OMIM|601113
U4	ILDR2	0.768248103	0	Immunoglobulin	BrainSpLMD|387597	
U4	DNAJC21	0.767994777	0	DNA binding protein	BrainSpLMD|134218	OMIM|617048;HPO|134218|Abnormality of skin pigmentation, Abnormality of the metaphysis, Anemia, Autosomal recessive inheritance, Bone marrow hypocellularity, Delayed skeletal maturation, Eczema, Exocrine pancreatic insufficiency, Failure to thrive, Generalized hypotonia, Global developmental delay, Hyperkeratosis, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Malabsorption, Neutropenia, Osteopenia, Pancytopenia, Recurrent infections, Short stature, Thrombocytopenia
U4	C16orf70	0.765103661	0	Unclassified	BrainSpLMD|80262	
U4	ATP5F1P1	0.764990135	0			
U4	LZTR1	0.762575	0	Transcription regulatory protein	BrainSpLMD|8216;Eurexp|euxassay_019520|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42706	SFARI||Autism, 3 - Suggestive evidence;OMIM|600574;COSMIC||glioblastoma, glioblastoma, schwannoma, Noonan syndrome 10;HPO|8216|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of the cardiac septa, Abnormality of the spleen, Abnormality of the sternum, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Autosomal dominant inheritance, Coarctation of aorta, Coarse hair, Cryptorchidism, Cystic hygroma, Delayed skeletal maturation, Downslanted palpebral fissures, Dysarthria, Enlarged thorax, Feeding difficulties in infancy, Hepatomegaly, High forehead, High palate, Hypertelorism, Hypogonadotrophic hypogonadism, Joint hyperflexibility, Low posterior hairline, Low-set, posteriorly rotated ears, Micrognathia, Midface retrusion, Mitral stenosis, Muscle weakness, Muscular hypotonia, Pectus carinatum, Pectus excavatum, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Scoliosis, Short neck, Short stature, Strabismus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Triangular face, Webbed neck, Wide intermamillary distance
U4	AK4	0.761053236	0	Enzyme: Phosphotransferase	BrainSpLMD|205;Eurexp|euxassay_010883|clavicle, hindgut, incisor, midgut, molar, olfactory, rectum, stomach	OMIM|103030
U4	KLHL12	0.760330658	0	Unclassified	BrainSpLMD|59349	OMIM|614522
U4	RNF20	0.757215854	0	Ubiquitin proteasome system protein	BrainSpLMD|56254	OMIM|607699
U4	UBXN7	0.755898303	0	Unclassified	BrainSpLMD|26043	OMIM|616379
U4	UBE2G1	0.752912558	0	Ubiquitin proteasome system protein	BrainSpLMD|7326;Eurexp|euxassay_018720|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, submandibular gland primordium, trigeminal V	OMIM|601569
U4	KAT6B	0.751465555	0	Enzyme: Acyltransferase	BrainSpLMD|23522	OMIM|605880;COSMIC||AML, leiomyoma, Genitopatellar syndrome, Say-Barber-Biesecker/Young-Simpson syndrome;HPO|23522|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of the antihelix, Abnormality of the cheek, Abnormality of the spleen, Agenesis of corpus callosum, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Arthrogryposis multiplex congenita, Atrial septal defect, Atrioventricular canal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bifid uvula, Bilateral single transverse palmar creases, Blepharophimosis, Brachydactyly, Bulbous nose, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Coarse facial features, Coarse hair, Colpocephaly, Congenital hip dislocation, Cryptorchidism, Cystic hygroma, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Downslanted palpebral fissures, Dysarthria, Dysphagia, Ectopic thyroid, Enlarged labia minora, Enlarged thorax, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Fine hair, Generalized hypotonia, Global developmental delay, Hearing impairment, Hepatomegaly, High forehead, High palate, Hip contracture, Hydronephrosis, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplastic ilia, Hypoplastic inferior pubic rami, Hypoplastic ischia, Hypothyroidism, Intellectual disability, Intellectual disability, progressive, Joint hyperflexibility, Knee flexion contracture, Laryngomalacia, Long nose, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Micropenis, Midface retrusion, Multicystic kidney dysplasia, Muscle weakness, Muscular hypotonia, Patellar aplasia, Patellar dislocation, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Periventricular gray matter heterotopia, Polyhydramnios, Posteriorly rotated ears, Prominent nasal bridge, Prominent nose, Prominent occiput, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonary hypoplasia, Recurrent respiratory infections, Retrognathia, Scoliosis, Scrotal hypoplasia, Seizures, Severe short stature, Short palm, Short palpebral fissure, Short phalanx of finger, Short stature, Sloping forehead, Sparse scalp hair, Specific learning disability, Strabismus, Submucous cleft hard palate, Talipes equinovarus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Thyroid agenesis, Thyroid hypoplasia, Triangular face, Ventricular septal defect, Webbed neck, Wide intermamillary distance, Wide nose
U4	LBH	0.751430608	0	Transcription regulatory protein	BrainSpLMD|81606;BrainSpMouseDev|53729	OMIM|611763
U4	SENP6	0.744534665	0	Ubiquitin proteasome system protein	BrainSpLMD|26054;Eurexp|euxassay_005645|embryo	OMIM|605003
U4	SLC40A1	0.744406957	0	Transport/cargo protein	BrainSpLMD|30061;Eurexp|euxassay_003910|bladder, brain, cervical region, footplate, handplate, liver, lumbar region, lung, mesenchyme, metanephros, midgut, rectum, renal/urinary system, rib, sacral region, spinal cord, thoracic region, vibrissa;BrainSpMouseDev|33240	OMIM|604653;HPO|30061|Abdominal pain, Arrhythmia, Arthralgia, Autosomal dominant inheritance, Cardiomyopathy, Cataract, Fatigue, Generalized hyperpigmentation, Glucose intolerance, Hepatic steatosis, Impotence, Increased serum ferritin, Joint dislocation, Joint swelling, Limitation of joint mobility, Osteoarthritis
U4	CDK5RAP3	0.743651399	0	Cell cycle control protein	BrainSpLMD|80279	OMIM|608202
U4	B4GALT3	0.737053616	0	Enzyme: Galactosyltransferase	BrainSpLMD|8703	OMIM|604014
U4	COPS5	0.733681106	0	Ubiquitin proteasome system protein	BrainSpLMD|10987;Eurexp|euxassay_012062|dorsal root ganglion, exoccipital bone, facial VII, glossopharyngeal IX, mantle layer, orbito-sphenoid, temporal bone, trigeminal V, turbinate, vagus X, ventral grey horn;BrainSpMouseDev|26501	OMIM|604850
U4	BOD1	0.733657971	0	Unclassified	BrainSpLMD|91272	OMIM|616745
U4	C14orf37	0.729008006	0	Integral membrane protein	BrainSpLMD|145407;Eurexp|euxassay_001572|axial skeleton, dorsal root ganglion, glossopharyngeal IX, head mesenchyme, trigeminal V, vagus X, vertebral axis muscle system, vibrissa	
U4	SESN1	0.726907324	0	Cell cycle control protein	BrainSpLMD|27244	OMIM|606103
U4	TOX3	0.725122677	0	Unclassified	Eurexp|euxassay_006138|cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, pancreas, paraxial mesenchyme, penis, retina, stomach, stroma, tongue, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|89252	OMIM|611416
U4	ATP1A2	0.724927412	0	ATPase	BrainSpLMD|477;Eurexp|euxassay_001505|brain, cervical, cervico-thoracic, cochlea, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mesenchyme, naris, neural retina, spinal cord, stroma, thoracic, tongue, trigeminal V, turbinate bones, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|62830	OMIM|182340;HPO|477|Abnormality of movement, Aphasia, Apraxia, Ataxia, Autosomal dominant inheritance, Blurred vision, Choreoathetosis, Coma, Confusion, Diplopia, Drowsiness, Dysarthria, Dysphasia, Dystonia, Episodic ataxia, Episodic hemiplegia, Episodic quadriplegia, Fever, Generalized tonic-clonic seizures, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Heterogeneous, Incomplete penetrance, Intellectual disability, Mental deterioration, Migraine with aura, Nystagmus, Seizures, Transient unilateral blurring of vision, Vertigo
U4	CREB5	0.724306526	0	Transcription factor	BrainSpLMD|9586;Eurexp|euxassay_016386|axial skeleton, oral epithelium	
U4	ZHX3	0.723701469	0	Transcription regulatory protein	BrainSpLMD|23051;Eurexp|euxassay_019571|cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, midgut, thoracic, trigeminal V, vagus X, vibrissa;BrainSpMouseDev|107734	OMIM|609598
U4	AKAP11	0.714001669	0	Anchor protein	BrainSpLMD|11215;Eurexp|euxassay_007645|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|604696
U4	ALG11	0.71330657	0	Unclassified	BrainSpLMD|440138	OMIM|613666;HPO|440138|Absent speech, Autosomal recessive inheritance, Feeding difficulties, Global developmental delay, Infantile onset, Neonatal hypotonia, Opisthotonus, Seizures, Strabismus, Temperature instability, Type I transferrin isoform profile, Vomiting
U4	ATRNL1	0.708120726	0	Integral membrane protein	BrainSpLMD|26033	SFARI||Autism, 5 - Hypothesized but untested;OMIM|612869
U4	DDOST	0.707844211	0	Enzyme: Galactosyltransferase	BrainSpLMD|1650	OMIM|602202;HPO|1650|Abnormality of the coagulation cascade, Accelerated skeletal maturation, Autosomal recessive inheritance, CNS hypomyelination, Constipation, Decreased liver function, Elevated hepatic transaminases, Esotropia, Failure to thrive, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Infantile onset, Neurodevelopmental delay, Neurological speech impairment, Oromotor apraxia, Osteopenia, Recurrent ear infections, Seizures, Short stature, Strabismus, Tremor, Type I transferrin isoform profile
U4	RPS20P14	0.707383197	0			
U4	ARIH2	0.707341594	0	Ubiquitin proteasome system protein	BrainSpLMD|10425	OMIM|605615
U4	UBR4	0.707267225	0	Unclassified	BrainSpLMD|23352	OMIM|609890
U4	L3MBTL2	0.703941475	0	Transcription regulatory protein	BrainSpLMD|83746	OMIM|611865
U4	CHML	0.700776316	0	Enzyme: Prenyltransferase	BrainSpLMD|1122;Eurexp|euxassay_012178|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	OMIM|118825
U4	MTPAP	0.699507712	0	RNA polymerase	BrainSpLMD|55149;Eurexp|euxassay_002898|lobe	OMIM|613669;HPO|55149|Autosomal recessive inheritance, Babinski sign, Delayed speech and language development, Dysarthria, Hyporeflexia, Nystagmus, Optic atrophy, Slow progression, Spastic ataxia, Spastic paraparesis
U4	LETMD1	0.698981781	0	Transcription regulatory protein	BrainSpLMD|25875;Eurexp|euxassay_003021|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|44456	
U4	MFSD8	0.698370982	0	Transport/cargo protein	BrainSpLMD|256471	OMIM|611124;HPO|256471|Ataxia, Autosomal recessive inheritance, Blindness, Cerebellar atrophy, Cerebral atrophy, Delayed speech and language development, EEG abnormality, Generalized myoclonic seizures, Global developmental delay, Juvenile onset, Macular dystrophy, Mental deterioration, Neurodegeneration, Optic atrophy, Pigmentary retinopathy, Rapidly progressive, Reduced visual acuity, Retinopathy, Sleep disturbance, Visual impairment, Visual loss
U4	RP1.278E11.3	0.696883895	0			
U4	ZGRF1	0.695924242	0	Unclassified	BrainSpLMD|55345;Eurexp|euxassay_012482|ventricular layer	
U4	DDHD2	0.69340294	0	Enzyme: Phospholipase	BrainSpLMD|23259	OMIM|615003;HPO|23259|Abnormality of the periventricular white matter, Autosomal recessive inheritance, Babinski sign, Dysarthria, Dysphagia, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Intellectual disability, Lower limb muscle weakness, Progressive, Short stature, Spastic paraplegia, Strabismus, Telecanthus
U4	NRD1	0.692108248	0			
U4	FBXL3	0.69143531	0	Ubiquitin proteasome system protein	BrainSpLMD|26224	OMIM|605653
U4	SDHB	0.690144767	0	Enzyme: Dehydrogenase	BrainSpLMD|6390;Eurexp|euxassay_018430|embryo	OMIM|185470;COSMIC||paraganglioma, pheochromocytoma;HPO|6390|Abdominal pain, Abnormality of the penis, Adenoma sebaceum, Adrenal pheochromocytoma, Adult onset, Ataxia, Autosomal dominant inheritance, Breast carcinoma, Cafe-au-lait spot, Cavernous hemangioma, Cerebral hemorrhage, Chemodectoma, Cognitive impairment, Colorectal polyposis, Congenital cataract, Congestive heart failure, Conjunctival hamartoma, Constipation, Cranial nerve paralysis, Dysphagia, Elevated urinary catecholamines, Elevated urinary norepinephrine, Endometrial carcinoma, Episodic hypertension, Episodic paroxysmal anxiety, Extraadrenal pheochromocytoma, Fatigue, Furrowed tongue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Generalized hyperkeratosis, Global developmental delay, Glomus jugular tumor, Goiter, Hamartomatous polyposis, Hearing impairment, Hemangioma, Hypercalcemia, Hyperhidrosis, Hyperpigmentation of the skin, Hypertension associated with pheochromocytoma, Hypertensive retinopathy, Incomplete penetrance, Intellectual disability, Intestinal obstruction, Large hands, Lipoma, Macrocephaly, Macroglossia, Macule, Melanocytic nevus, Meningioma, Mucosal telangiectasiae, Nausea and vomiting, Neoplasm, Neoplasm of the gastrointestinal tract, Neoplasm of the stomach, Neurofibromas, Palmoplantar keratoderma, Palpitations, Papillary thyroid carcinoma, Papilloma, Papule, Paraganglioma, Pheochromocytoma, Positive regitine blocking test, Proteinuria, Pulsatile tinnitus, Recurrent paroxysmal headache, Renal artery stenosis, Renal cell carcinoma, Sarcoma, Sporadic, Subcutaneous nodule, Tachycardia, Tinnitus, Urticaria, Uterine leiomyoma, Weight loss
U4	NFRKB	0.68697482	0	Transcription factor	BrainSpLMD|4798;Eurexp|euxassay_019503|dorsal root ganglion, facial VII, glossopharyngeal IX, lung, metanephros, olfactory, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|164013
U4	POLR1C	0.684964716	0	RNA polymerase	BrainSpLMD|9533	OMIM|610060;HPO|9533|Abnormality of bone mineral density, Abnormality of the outer ear, Absent eyelashes, Ataxia, Autosomal recessive inheritance, CNS hypomyelination, Cleft eyelid, Cleft palate, Conductive hearing impairment, Downslanted palpebral fissures, Frontal bossing, Global developmental delay, Hypergonadotropic hypogonadism, Hypodontia, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Intellectual disability, Iris coloboma, Leukodystrophy, Low anterior hairline, Lower eyelid coloboma, Malar flattening, Mandibulofacial dysostosis, Micrognathia, Microtia, Midface retrusion, Narrow internal auditory canal, Open bite, Reduced number of teeth, Retrognathia, Short face, Skeletal dysplasia, Strabismus, Tremor, Visual impairment, Wide nasal bridge
U4	TMEM87B	0.684963371	0	Integral membrane protein	BrainSpLMD|84910;Eurexp|euxassay_012687|mantle layer	OMIM|617203
U4	RC3H2	0.684833199	0	DNA binding protein	BrainSpLMD|54542	OMIM|615231
U4	LIN52	0.681302256	0	Unclassified		
U4	TMEM87A	0.679577543	0	Integral membrane protein	BrainSpLMD|25963	
U4	FBXW2	0.679172755	0	Ubiquitin proteasome system protein	BrainSpLMD|26190	OMIM|609071
U4	TMX2	0.679145247	0	Integral membrane protein	Eurexp|euxassay_005201|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, lung, mantle layer, midbrain, olfactory lobe, retina, spinal cord, submandibular gland primordium, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|616715
U4	IPO5	0.675939463	0	Transport/cargo protein	BrainSpLMD|3843	OMIM|602008
U4	PLXDC2	0.675671629	0	Cell surface receptor	BrainSpLMD|84898;Eurexp|euxassay_002573|body-wall mesenchyme, choroid plexus, cochlear duct, diaphragm, epidermis, epithelium, humerus, mantle layer, submandibular gland primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|606827
U4	DDX52	0.667146117	0	DNA binding protein	BrainSpLMD|11056	OMIM|612500
U4	NTRK3	0.66491535	0	Receptor tyrosine kinase	BrainSpLMD|4916;Eurexp|euxassay_017897|corpus striatum, dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|17980	SFARI||Autism, 4 - Minimal evidence;OMIM|191316;COSMIC||congenital fibrosarcoma, secretory breast
U4	ING4	0.664883063	0	Transcription regulatory protein	BrainSpLMD|51147;Eurexp|euxassay_011920|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, mesenchyme, naris, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, radius, rib, scapula, sternum, tibia, turbinate bones, ulna, vault of skull	OMIM|608524
U4	SLC7A11	0.663303	0	Membrane transport protein	BrainSpLMD|23657;Eurexp|euxassay_012149|choroid invagination, lens, meninges, olfactory, ventricular layer	OMIM|607933
U4	PSMC2	0.662727841	0	Ubiquitin proteasome system protein	BrainSpLMD|5701	OMIM|154365
U4	ADAR	0.659226672	0	Enzyme: Deaminase	BrainSpLMD|103;Eurexp|euxassay_018648|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|146920;HPO|103|Arrhinencephaly, Autosomal dominant inheritance, Autosomal recessive inheritance, Cleft eyelid, Dystonia, Global developmental delay, Hemiplegia/hemiparesis, Hyperpigmented/hypopigmented macules, Infantile onset, Intellectual disability, profound, Loss of ability to walk, Loss of speech, Macular hyperpigmentation, Macular hypopigmentation, Macule, Porencephalic cyst, Rigidity, Spasticity, Torsion dystonia, Tremor
U4	ZNF75A	0.658819241	0	DNA binding protein	BrainSpLMD|7627	OMIM|601473
U4	LCMT1	0.657817811	0	Enzyme: Methyltransferase	BrainSpLMD|51451;Eurexp|euxassay_010513|mantle layer	OMIM|610286
U4	POLDIP2	0.655995326	0	Unclassified	BrainSpLMD|26073	OMIM|611519
U4	KIAA1191	0.653060353	0	Unclassified	BrainSpLMD|57179;Eurexp|euxassay_011470|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	
U4	ZNF496	0.653032386	0	Transcription regulatory protein	BrainSpLMD|84838	OMIM|613911
U4	GSE1	0.651152681	0	Unclassified	BrainSpLMD|23199	OMIM|616886
U4	RANP1	0.650528674	0			
U4	TRIP11	0.647591573	0	Ligand	BrainSpLMD|9321	OMIM|604505;COSMIC||AML;HPO|9321|Abdominal distention, Abnormal enchondral ossification, Abnormal foot bone ossification, Abnormal hand bone ossification, Abnormality of the femoral metaphysis, Anteverted nares, Aplasia/Hypoplasia of the lungs, Autosomal recessive inheritance, Barrel-shaped chest, Beaded ribs, Broad clavicles, Decreased skull ossification, Depressed nasal bridge, Disproportionate short-trunk short stature, Femoral hernia, Flat face, Frontal bossing, Hydrops fetalis, Hypoplasia of the radius, Hypoplastic ischia, Hypoplastic scapulae, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Multiple rib fractures, Narrow chest, Polyhydramnios, Protuberant abdomen, Recurrent fractures, Severe short stature, Short clavicles, Short foot, Short neck, Short nose, Short palm, Short ribs, Short thorax, Stillbirth, Thickened nuchal skin fold, Umbilical hernia, Unossified vertebral bodies
U4	CTH	0.646373212	0	Cysteine protease	BrainSpLMD|1491;Eurexp|euxassay_000513|axial skeleton, cranium, head mesenchyme, incisor, oesophagus, otic capsule, turbinate bones	OMIM|607657;HPO|1491|Autosomal recessive inheritance, Cystathioninuria
U4	DDB1	0.645871657	0	DNA binding protein	BrainSpLMD|1642	OMIM|600045
U4	ATXN10	0.645238367	0	Unclassified	BrainSpLMD|25814	OMIM|611150;HPO|25814|Abnormal pyramidal signs, Abnormality of extrapyramidal motor function, Autosomal dominant inheritance, Cerebellar atrophy, Decreased nerve conduction velocity, Dementia, Depressivity, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysphagia, Gait ataxia, Genetic anticipation, Hyperreflexia, Incomplete penetrance, Incoordination, Limb ataxia, Morphological abnormality of the pyramidal tract, Nystagmus, Progressive cerebellar ataxia, Scanning speech, Seizures, Urinary incontinence, Urinary urgency
U4	PCDH9	0.645126064	0	Adhesion molecule	BrainSpLMD|5101;Eurexp|euxassay_014258|facial VII, mantle layer, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|603581
U4	TSPAN14	0.644806823	0	Integral membrane protein	BrainSpLMD|81619;Eurexp|euxassay_007132|embryo	
U4	RFX2	0.64355924	0	DNA binding protein	BrainSpLMD|5990;Eurexp|euxassay_019670|floorplate, lobe, olfactory, ventricular layer;BrainSpMouseDev|19488	OMIM|142765
U4	FAM107A	0.643544466	0	Unclassified	BrainSpLMD|11170;Eurexp|euxassay_005179|inner ear, olfactory	OMIM|608295
U4	DYRK2	0.642910392	0	Tyrosine kinase	BrainSpLMD|8445;Eurexp|euxassay_016272|mantle layer	OMIM|603496
U4	SNORA31	0.642806202	0			
U4	DTNA	0.640715747	0	Unclassified	BrainSpLMD|1837;Eurexp|euxassay_010455|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|601239;HPO|1837|Atrial fibrillation, Autosomal dominant inheritance, Congestive heart failure, Hypoplastic left heart, Left ventricular hypertrophy, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Patent ductus arteriosus, Sudden cardiac death, Ventricular arrhythmia, Ventricular septal defect
U4	AMZ2	0.639730038	0	Metallo protease	BrainSpLMD|51321	OMIM|615169
U4	POLDIP3	0.6388936	0	RNA binding protein	BrainSpLMD|84271	OMIM|611520
U4	MRPL44	0.636680847	0	Ribosomal subunit	BrainSpLMD|65080	OMIM|611849;HPO|65080|Autosomal recessive inheritance, Elevated hepatic transaminases, Hypertrophic cardiomyopathy, Increased serum lactate, Infantile onset, Microvesicular hepatic steatosis, Variable expressivity
U4	DDX3X	0.63538721	0	RNA helicase	BrainSpLMD|1654	SFARI||Autism, 2 - Strong candidate;OMIM|300160;COSMIC||CLL, medulloblastoma, Mental retardation, X-linked 102;HPO|1654|Generalized hypotonia, Infantile onset, Intellectual disability, X-linked dominant inheritance, X-linked recessive inheritance
U4	GOT1	0.633909113	0	Enzyme: Aminotransferase	BrainSpLMD|2805;Eurexp|euxassay_018495|adrenal gland, brain, cortex, diaphragm, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, oral epithelium, spinal cord, stroma, thymus primordium, trigeminal V, vagus X, ventricle, vertebral axis muscle system	OMIM|138180
U4	IPO9	0.631202217	0	Transport/cargo protein	BrainSpLMD|55705	
U4	THUMPD3.AS1	0.631110795	0			
U4	SSFA2	0.630553591	0	Unclassified	BrainSpLMD|6744	OMIM|118990
U4	EGFR	0.629825026	0	Receptor tyrosine kinase	BrainSpLMD|1956;Eurexp|euxassay_002564|axial skeleton, cervical region, diaphragm, epidermis, intermediate grey horn, lumbar region, mandible, mantle layer, maxilla, mesenchyme, nasal septum, phalanx, pharyngo-tympanic tube, primary palate, rib, sacral region, thoracic region, trachea, turbinate bones, upper arm, ventricular layer, vibrissa;BrainSpMouseDev|13427	OMIM|131550;COSMIC||glioma, NSCLC, NSCLC;HPO|1956|Alveolar cell carcinoma, Autosomal recessive inheritance, Epidermal acanthosis, Failure to thrive, Hypertension, Long eyelashes, Papule, Pustule, Recurrent bronchiolitis, Recurrent pneumonia, Vomiting
U4	SSRP1	0.629039502	0	Transcription factor	BrainSpLMD|6749;BrainSpMouseDev|20595	OMIM|604328
U4	UBR3	0.626778349	0	Unclassified	BrainSpLMD|130507;Eurexp|euxassay_007551|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613831
U4	RPA2	0.623142388	0	DNA binding protein	BrainSpLMD|6118;Eurexp|euxassay_004500|marginal layer, ventricular layer	OMIM|179836
U4	AC007969.5	0.621070923	0			
U4	DCAF10	0.620322778	0	Unclassified	BrainSpLMD|79269	
U4	KDM3B	0.619720531	0	Unclassified	BrainSpLMD|51780	OMIM|609373
U4	LINC00641	0.619596186	0			
U4	ZFP2	0.61812138	0	DNA binding protein	BrainSpLMD|80108;Eurexp|euxassay_002774|brain, central nervous system, cervical, cervico-thoracic, cochlear component, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, inferior, midbrain, spinal cord, superior, telencephalon, thoracic, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII	
U4	ARHGAP32	0.61500457	0		BrainSpLMD|9743	SFARI||Autism, 4 - Minimal evidence;OMIM|608541
U4	DOCK3	0.614748748	0	Unclassified	BrainSpLMD|1795	OMIM|603123
U4	STK17B	0.613919456	0	Serine/threonine kinase	BrainSpLMD|9262	OMIM|604727
U4	SF3B1	0.612676566	0	RNA binding protein	BrainSpLMD|23451	OMIM|605590;COSMIC||myelodysplastic syndrome;HPO|23451|Choroidal melanoma, Ciliary body melanoma, Iris melanoma, Myelodysplasia, Retinal detachment, Somatic mutation, Visual loss
U4	UBE2D4	0.611381924	0	Ubiquitin proteasome system protein	BrainSpLMD|51619	
U4	TRAFD1	0.61082802	0	DNA binding protein	BrainSpLMD|10906	OMIM|613197
U4	HEATR1	0.61049405	0	Unclassified	BrainSpLMD|55127;Eurexp|euxassay_000061|excretory component, liver, lung, physiological umbilical hernia, skeletal muscle, submandibular gland primordium, testis, thymus primordium, ventricular layer	
U4	ZNF280C	0.609895302	0	Unclassified	BrainSpLMD|55609;Eurexp|euxassay_002112|brain, dorsal root ganglion, spinal cord	
U4	ZNF136	0.609814438	0	DNA binding protein	BrainSpLMD|7695	OMIM|604078
U4	LAS1L	0.607184289	0	Unclassified	BrainSpLMD|81887	OMIM|300964;HPO|81887|Abnormal facial shape, Brachycephaly, Broad nasal tip, Cryptorchidism, Decreased muscle mass, Decreased testicular size, Deeply set eye, Delayed puberty, Delayed speech and language development, Emotional lability, Global developmental delay, Gynecomastia, Hypogonadism, Hypogonadotrophic hypogonadism, Intellectual disability, Kyphosis, Malar prominence, Microcephaly, Micrognathia, Micropenis, Microtia, Misalignment of teeth, Muscular hypotonia, Pes cavus, Pes planus, Poor speech, Prominent supraorbital ridges, Retrognathia, Short ear, Short foot, Short stature, Small hand, Tapered finger, Thick eyebrow, Thin upper lip vermilion, Truncal obesity, X-linked dominant inheritance, X-linked recessive inheritance
U4	TMEM256P2	0.601292647	0			
U4	MFHAS1	0.595788862	0	Unclassified	BrainSpLMD|9258;Eurexp|euxassay_014051|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vibrissa	OMIM|605352
U4	ZNF689	0.595482018	0	Transcription factor	BrainSpLMD|115509	
U4	USP16	0.592486415	0	Ubiquitin proteasome system protein	BrainSpLMD|10600	OMIM|604735
U4	FARP1	0.59218059	0	Guanine nucleotide exchange factor	BrainSpLMD|10160	OMIM|602654
U4	GABRB3	0.589834511	0	Extracellular ligand gated channel	BrainSpLMD|2562;Eurexp|euxassay_008367|brain, facial VII, glossopharyngeal IX, mandible, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|14178	SFARI||Autism, 2 - Strong candidate;OMIM|137192;HPO|2562|Abnormality of brainstem morphology, Aggressive behavior, Ataxia, Atonic seizures, Atypical absence seizures, Autistic behavior, Autosomal dominant inheritance, Dyskinesia, EEG with focal sharp slow waves, Encephalopathy, Epileptic encephalopathy, Falls, Generalized hypotonia, Generalized tonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Hyperactivity, Infantile onset, Intellectual disability, Mental deterioration, Myoclonus, Personality disorder, Seizures
U4	HDX	0.586268852	0	Unclassified	BrainSpLMD|139324;BrainSpMouseDev|89416	OMIM|300994
U4	RPL13AP25	0.584947254	0			
U4	VCPIP1	0.584833187	0	Ubiquitin proteasome system protein	BrainSpLMD|80124	OMIM|611745
U4	FOSB	0.583344794	0	Transcription factor	BrainSpLMD|2354	OMIM|164772
U4	RSPRY1	0.581403439	0	Ubiquitin proteasome system protein	BrainSpLMD|89970	OMIM|616585;HPO|89970|Abnormal facial shape, Autosomal recessive inheritance, Craniosynostosis, Delayed skeletal maturation, Depressed nasal bridge, Epicanthus, Hypertelorism, Intellectual disability, Low-set ears, Malar flattening, Microcephaly, Microtia, Motor delay, Narrow pelvis bone, Osteopenia, Overlapping toe, Platyspondyly, Proximal femoral epiphysiolysis, Ptosis, Short femoral neck, Short metacarpal, Short neck, Short nose, Short stature, Skull asymmetry, Small epiphyses, Strabismus, Tented upper lip vermilion, Thick vermilion border, Thoracolumbar scoliosis
U4	AQR	0.581309237	0	Unclassified	BrainSpLMD|9716	OMIM|610548
U4	RAB10	0.578063196	0	GTPase	BrainSpLMD|10890;Eurexp|euxassay_008412|embryo	OMIM|612672
U4	UBE4A	0.576677563	0	Ubiquitin proteasome system protein	BrainSpLMD|9354;Eurexp|euxassay_003317|basal plate, cervical, cervico-thoracic, dorsal root ganglion, epidermal component, facial VII, floor plate, glossopharyngeal IX, mantle layer, thoracic, thymus primordium, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa	OMIM|603753
U4	SLC35F6	0.576650263	0	Unclassified	BrainSpLMD|54978	
U4	FLVCR1	0.576402761	0	Transport/cargo protein	BrainSpLMD|28982	OMIM|609144;HPO|28982|Achalasia, Areflexia, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Broad-based gait, Camptodactyly, Childhood onset, Decreased sensory nerve conduction velocity, Distal muscle weakness, Impaired vibration sensation in the lower limbs, Joint contracture of the hand, Nyctalopia, Optic atrophy, Positive Romberg sign, Recurrent urinary tract infections, Ring scotoma, Rod-cone dystrophy, Scoliosis, Scotoma, Sensory ataxia, Skeletal muscle atrophy, Slow progression, Undetectable electroretinogram, Urinary incontinence
U4	GAPDHP1	0.574490726	0			
U4	PPAPDC1B	0.574352501	0			
U4	NCOR1	0.571916857	0	Transcription factor	BrainSpLMD|9611;BrainSpMouseDev|19948	SFARI||Autism, 4 - Minimal evidence;OMIM|600849;COSMIC||breast, Ulnar-mammary syndrome
U4	DIP2B	0.571078682	0	Unclassified	BrainSpLMD|57609	OMIM|611379;HPO|57609|Autosomal dominant inheritance, Hyperkeratosis, Intellectual disability, Phenotypic variability
U4	REV3L	0.569086702	0	DNA polymerase	BrainSpLMD|5980;Eurexp|euxassay_009657|brain, olfactory, spinal cord, vomeronasal organ	OMIM|602776;HPO|5980|Abnormality of the voice, Aplasia of the pectoralis major muscle, Brachydactyly, Corneal opacity, Dysphagia, Everted lower lip vermilion, Facial palsy, Feeding difficulties in infancy, Mask-like facies, Motor delay, Muscular hypotonia, Open mouth, Ophthalmoplegia, Ptosis, Strabismus, Talipes equinovarus
U4	IARS2	0.567406049	0	-	BrainSpLMD|55699;Eurexp|euxassay_005121|embryo	OMIM|612801;HPO|55699|Achalasia, Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Cataract, Cervical spinal canal stenosis, Congenital cataract, Congenital hip dislocation, Depressed nasal bridge, Distal sensory impairment, Fasting hypoglycemia, Flexion contracture, Genu valgum, Growth hormone deficiency, Hip dislocation, Hyporeflexia, Long philtrum, Motor delay, Narrow mouth, Nystagmus, Osteopenia, Periarticular subcutaneous nodules, Peripheral neuropathy, Prelingual sensorineural hearing impairment, Progressive sensorineural hearing impairment, Prominent forehead, Scoliosis, Sensorimotor neuropathy, Sensorineural hearing impairment, Sensory neuropathy, Short stature, Spinal canal stenosis, Spondyloepiphyseal dysplasia, Thick eyebrow, Thoracic kyphoscoliosis
U4	AGO4	0.565808066	0	Translation regulatory protein	BrainSpLMD|192670	OMIM|607356
U4	ZNF134	0.565256899	0	Transcription regulatory protein	BrainSpLMD|7693	OMIM|604076
U4	MCM7	0.564440116	0	Unclassified;DNA helicase	BrainSpLMD|4176;Eurexp|euxassay_018019|embryo	OMIM|600592
U4	PPM1D	0.56411018	0	Serine/threonine phosphatase	BrainSpLMD|8493	SFARI||Autism, No category;OMIM|605100;COSMIC||glioma, ovarian cancer, breast cancer;HPO|8493|Anteverted nares, Anxiety, Attention deficit hyperactivity disorder, Autistic behavior, Autosomal dominant inheritance, Brachydactyly, Breast carcinoma, Broad forehead, Broad-based gait, Constipation, Delayed speech and language development, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Heterogeneous, Hyperlordosis, Hypermetropia, Intellectual disability, Low-set ears, Obsessive-compulsive behavior, Posteriorly rotated ears, Short foot, Short stature, Small hand, Small nail, Strabismus, Thin upper lip vermilion, Vomiting, Wide mouth
U4	NDUFS2	0.55983995	0	Enzyme: Oxidoreductase	BrainSpLMD|4720	OMIM|602985;HPO|4720|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Blurred vision, Central scotoma, Centrocecal scotoma, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Mitochondrial respiratory chain defects, Muscle weakness, Nystagmus, Optic atrophy, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Retinal telangiectasia, Retinal vascular tortuosity, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Slow decrease in visual acuity, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
U4	HSPA5	0.559122918	0	Chaperone	BrainSpLMD|3309	OMIM|138120
U4	FAF2	0.557444789	0	Unclassified	BrainSpLMD|23197;Eurexp|euxassay_007868|embryo	OMIM|616935
U4	APBB2	0.5500928	0	Adapter molecule	BrainSpLMD|323;Eurexp|euxassay_007659|corpus striatum, mantle layer, nasal septum, neural retina, turbinate bones, ventral grey horn	OMIM|602710
U4	BRWD3	0.548503152	0	Unclassified	BrainSpLMD|254065	OMIM|300553;HPO|254065|Cryptorchidism, Cupped ear, Delayed speech and language development, Frontal bossing, Generalized hypotonia, Intellectual disability, mild, Long face, Macrocephaly, Macrotia, Pes planus, Prominent forehead, X-linked recessive inheritance
U4	ABL2	0.547923466	0	Tyrosine kinase	BrainSpLMD|27;Eurexp|euxassay_011309|embryo, femur, fibula, liver, primitive seminiferous tubules, tibia	OMIM|164690;COSMIC||AML
U4	PLXNA2	0.547542169	0	Cell surface receptor	BrainSpLMD|5362;Eurexp|euxassay_010018|brain, spinal cord;BrainSpMouseDev|18609	OMIM|601054
U4	AARS	0.547487959	0	Enzyme: Ligase	BrainSpLMD|16	OMIM|601065;HPO|16|Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Blepharospasm, CNS hypomyelination, Cerebral atrophy, Chorea, Congenital onset, Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment, Epileptic encephalopathy, Failure to thrive, Foot dorsiflexor weakness, Generalized hypotonia, Global developmental delay, Hammertoe, Hip dislocation, Intrauterine growth retardation, Microcephaly, Nystagmus, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Sensorineural hearing impairment, Short stature, Skeletal muscle atrophy, Spasticity, Variable expressivity
U4	MEST	0.546459993	0	Enzyme: Hydrolase	BrainSpLMD|4232;Eurexp|euxassay_003445|atrium, ventricle;BrainSpMouseDev|17063	OMIM|601029
U4	RSBN1	0.546196722	0	Transcription regulatory protein	BrainSpLMD|54665	OMIM|615858
U4	GOLGB1	0.545491744	0	Structural protein	BrainSpLMD|2804	OMIM|602500
U4	FKBP15	0.544052339	0	Enzyme: Isomerase	Eurexp|euxassay_010344|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|617398
U4	SNRNP200	0.543078923	0	Ribonucleoprotein	BrainSpLMD|23020	OMIM|601664;HPO|23020|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Attenuation of retinal blood vessels, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Progressive night blindness, Retinal pigment epithelial atrophy, Rod-cone dystrophy, Sensorineural hearing impairment, Visual impairment, Wide nasal bridge
U4	PTTG1IP	0.540849076	0	Transport/cargo protein	BrainSpLMD|754	OMIM|603784
U4	CHORDC1	0.539305709	0	Unclassified	BrainSpLMD|26973;Eurexp|euxassay_005070|brain, olfactory, trigeminal V, vomeronasal organ	OMIM|604353
U4	TBRG4	0.532592724	0	Cell cycle control protein	BrainSpLMD|9238;Eurexp|euxassay_002706|axial muscle	OMIM|611325
U4	HECTD1	0.53103605	0	Ubiquitin proteasome system protein	BrainSpLMD|25831	
U4	PTMAP2	0.529132113	0			
U4	COX6A1P2	0.528320403	0			
U4	GAD1	0.527666932	0	Enzyme: Decarboxylase	BrainSpLMD|2571;Eurexp|euxassay_005634|cerebral cortex, corpus striatum, hindbrain, incisor, mantle layer, marginal layer, molar, olfactory lobe, oral region, spinal cord, telencephalon;BrainSpMouseDev|14191	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605363;HPO|2571|Autosomal recessive inheritance, Babinski sign, Cerebral palsy, Flexion contracture, Global developmental delay, Heterogeneous, Hyperreflexia, Infantile onset, Intellectual disability, Microcephaly, Scoliosis, Seizures, Spastic diplegia, Spastic tetraplegia
U4	RPS3AP26	0.522768218	0			
U4	TGIF2	0.521394542	0	Transcription factor	BrainSpLMD|60436;Eurexp|euxassay_019508|axial skeleton, cornea, epithelium, incisor, lung, marginal layer, metanephros, molar, neural retina, oesophagus, olfactory, phalanx, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|86790	OMIM|607294
U4	CLDN12	0.517247817	0	Cell junction protein	BrainSpLMD|9069	OMIM|611232
U4	ASNS	0.516288309	0	Enzyme: Synthase	BrainSpLMD|440;Eurexp|euxassay_004453|dorsal root ganglion, facial VII, floorplate, glossopharyngeal IX, incisor, liver, lung, mantle layer, marginal layer, midgut, naso-lacrimal duct, pancreas, retina, skeletal muscle, stomach, trigeminal V, vagus X	OMIM|108370;HPO|440|Autosomal recessive inheritance, Cerebellar hypoplasia, Cortical dysplasia, Cortical gyral simplification, Cortical visual impairment, Delayed myelination, Encephalopathy, Exaggerated startle response, Failure to thrive, Feeding difficulties, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Hypsarrhythmia, Large hands, Long foot, Macrotia, Microcephaly, Micrognathia, Muscular hypotonia of the trunk, Profound global developmental delay, Progressive, Progressive microcephaly, Respiratory insufficiency, Seizures, Sloping forehead, Spastic tetraplegia, Ventriculomegaly
U4	PGBD1	0.515452408	0	Unclassified	BrainSpLMD|84547	
U4	OSGEP	0.513519731	0	Protease	BrainSpLMD|55644	OMIM|610107
U4	PRKAB1	0.513222025	0	Regulatory/other subunit	BrainSpLMD|5564	OMIM|602740
U4	DLD	0.51204364	0	Enzyme: Dehydrogenase	BrainSpLMD|1738	OMIM|238331;HPO|1738|Ataxia, Autosomal recessive inheritance, Dystonia, Elevated hepatic transaminases, Elevated plasma branched chain amino acids, Encephalopathy, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hepatic encephalopathy, Hepatomegaly, Hypercoagulability, Hypertrophic cardiomyopathy, Hypoglycemia, Increased serum lactate, Increased urine alpha-ketoglutarate concentration, Lactic acidosis, Lethargy, Metabolic acidosis, Microcephaly, Neurodevelopmental delay, Seizures, Spasticity, Variable expressivity, Vomiting
U4	PSAT1	0.509575142	0	Enzyme: Aminotransferase	BrainSpLMD|29968;Eurexp|euxassay_001596|cranium, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|610936;HPO|29968|Abnormality of the philtrum, Abnormality of the pinna, Absent septum pellucidum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Broad foot, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cleft palate, Congenital onset, Dandy-Walker malformation, Decreased fetal movement, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Feeding difficulties in infancy, Global developmental delay, High palate, Hypertelorism, Hypertonia, Hypoglycinemia, Hypogonadism, Hyposerinemia, Ichthyosis, Infantile onset, Intrauterine growth retardation, Lack of skin elasticity, Large hands, Lissencephaly, Low-set ears, Macrogyria, Macrotia, Microcephaly, Micrognathia, Muscle cramps, Muscular dystrophy, Opisthotonus, Pachygyria, Polyhydramnios, Polymicrogyria, Postnatal microcephaly, Proptosis, Rocker bottom foot, Scoliosis, Seizures, Short neck, Skeletal muscle atrophy, Sloping forehead, Thick vermilion border, Trismus
U4	SAMD4A	0.509088735	0	Unclassified	BrainSpLMD|23034	OMIM|610747
U4	LPIN1	0.506233253	0	Unclassified	BrainSpLMD|23175;Eurexp|euxassay_013747|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, incisor, liver, mantle layer, marginal layer, molar, olfactory, spinal cord, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|605518;HPO|23175|Acute kidney injury, Acute rhabdomyolysis, Areflexia, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Fever, Hyperkalemia, Hyporeflexia, Muscle weakness, Myalgia, Myoglobinuria
U4	HACE1	0.504418354	0	Ubiquitin proteasome system protein	BrainSpLMD|57531	OMIM|610876;HPO|57531|Ataxia, Autosomal recessive inheritance, Broad-based gait, Cerebral atrophy, Developmental regression, Elevated urinary catecholamines, Generalized hypotonia, Global developmental delay, Intellectual disability, Lumbar hyperlordosis, Muscular hypotonia, Neoplasm of the nervous system, Retinal dystrophy, Strabismus
U4	KIAA0232	0.499922594	0	Unclassified	BrainSpLMD|9778	
U4	ETV6	0.499687609	0	Transcription factor	BrainSpLMD|2120;Eurexp|euxassay_012303|incisor, molar, olfactory, parotid, submandibular gland primordium, thymus primordium, thyroid;BrainSpMouseDev|13788	OMIM|600618;COSMIC||congenital fibrosarcoma, multiple different leukaemia and lymphoma tumour types including ALL, secretory breast, MDS;HPO|2120|Autosomal dominant inheritance, Bruising susceptibility, Epistaxis, Petechiae, Thrombocytopenia
U4	EZH1	0.494471737	0	Transcription regulatory protein	BrainSpLMD|2145	OMIM|601674
U4	TBPL1	0.494183229	0	Transcription factor	BrainSpLMD|9519;Eurexp|euxassay_019419|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|605521
U4	ZFYVE20	0.493588259	0			
U4	MKRN1	0.490905779	0	Ubiquitin proteasome system protein	BrainSpLMD|23608	OMIM|607754
U4	SYT11	0.490325213	0	Calcium binding protein	BrainSpLMD|23208	OMIM|608741
U4	ELP5	0.487159558	0	Unclassified	BrainSpLMD|23587	OMIM|615019
U4	LYST	0.486691551	0	Adapter molecule	BrainSpLMD|1130;Eurexp|euxassay_013972|axial skeleton	OMIM|606897;HPO|1130|Abnormality of coagulation, Abnormality of multiple cell lineages in the bone marrow, Amblyopia, Anemia, Areflexia, Autosomal recessive inheritance, Bruising susceptibility, Cranial nerve paralysis, Decreased nerve conduction velocity, Edema, Epistaxis, Fever, Foot dorsiflexor weakness, Gait disturbance, Generalized hypopigmentation, Giant melanosomes in melanocytes, Gingival bleeding, Gingivitis, Global developmental delay, Hepatomegaly, Hypopigmentation of hair, Hypopigmentation of the skin, Hyporeflexia, Immunodeficiency, Intellectual disability, Iris hypopigmentation, Jaundice, Leukopenia, Lymphadenopathy, Lymphoma, Macular hypoplasia, Neurodegeneration, Neutropenia, Nystagmus, Ocular albinism, Paresthesia, Periodontitis, Peripheral neuropathy, Photophobia, Progressive peripheral neuropathy, Recurrent bacterial skin infections, Recurrent cutaneous abscess formation, Recurrent respiratory infections, Recurrent systemic pyogenic infections, Reduced visual acuity, Seizures, Skin ulcer, Splenomegaly, Strabismus, Thrombocytopenia, Tremor, Visual impairment, White hair
U4	ARHGAP5	0.486076721	0	GTPase activating protein	BrainSpLMD|394	OMIM|602680;COSMIC||colon cancer, glioma
U4	TTC37	0.485231661	0	Unclassified	BrainSpLMD|9652	OMIM|614589;HPO|9652|Abnormality of iron homeostasis, Abnormality of the immune system, Abnormality of the pancreas, Anteverted nares, Autosomal recessive inheritance, Bifid uvula, Brittle hair, Cholestasis, Cirrhosis, Cognitive impairment, Curly hair, Depressed nasal ridge, Diarrhea, Downslanted palpebral fissures, Failure to thrive, Fine hair, Frontal bossing, Galactosuria, Hepatic failure, Hepatic fibrosis, Hepatomegaly, Hypermethioninemia, Hypertelorism, Hypoalbuminemia, Intractable diarrhea, Intrauterine growth retardation, Jaundice, Large placenta, Long philtrum, Low-set ears, Microtia, Narrow mouth, Polyhydramnios, Prominent forehead, Proptosis, Renal cortical microcysts, Short stature, Small for gestational age, Sparse hair, Trichorrhexis nodosa, Underdeveloped supraorbital ridges, Villous atrophy, Wide mouth, Wide nose, Woolly hair
U4	GOLGA7	0.484493972	0	Integral membrane protein	BrainSpLMD|51125	OMIM|609453
U4	CIAO1	0.482002594	0	Transcription regulatory protein	BrainSpLMD|9391;Eurexp|euxassay_002467|epidermis, vibrissa	OMIM|604333
U4	SECISBP2L	0.481568023	0	Unclassified	BrainSpLMD|9728	OMIM|615756
U4	ZNF827	0.480049236	0	DNA binding protein	BrainSpLMD|152485	SFARI||Autism, No category
U4	TSG101	0.478674245	0	Ubiquitin proteasome system protein	BrainSpLMD|7251;Eurexp|euxassay_002131|brain, cervical, cervico-thoracic, dorsal root ganglion, spinal cord, thoracic, trigeminal V	OMIM|601387;HPO|7251|Autosomal dominant inheritance, Breast carcinoma, Heterogeneous
U4	RP11.51O6.1	0.477759262	0			
U4	MEIS1	0.477353031	0	Transcription factor	BrainSpLMD|4211;Eurexp|euxassay_010373|cornea, epithelium, hindgut, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, respiratory, sublingual gland primordium, submandibular gland primordium, trachea, ventricular layer, vibrissa;BrainSpMouseDev|17037	OMIM|601739
U4	C5orf42	0.476670095	0	Unclassified	BrainSpLMD|65250	OMIM|614571;HPO|65250|Abnormality of peripheral nerve conduction, Accessory oral frenulum, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Brachydactyly, Broad nasal tip, Central Y-shaped metacarpal, Cerebellar vermis hypoplasia, Cleft palate, Cleft upper lip, Clinodactyly, Conductive hearing impairment, Degeneration of anterior horn cells, Distal upper limb amyotrophy, EMG abnormality, Epicanthus, Episodic tachypnea, Esotropia, Failure to thrive, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, High palate, Hypertelorism, Hyperventilation, Hypothalamic hamartoma, Intellectual disability, Long face, Low-set ears, Mesoaxial hand polydactyly, Micrognathia, Molar tooth sign on MRI, Muscle weakness, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Postaxial polydactyly, Posteriorly rotated ears, Preaxial foot polydactyly, Preaxial hand polydactyly, Radial deviation of finger, Renal agenesis, Renal dysplasia, Short stature, Toe syndactyly, Tongue nodules
U4	ACAD8	0.474266707	0	Enzyme: Dehydrogenase	BrainSpLMD|27034;Eurexp|euxassay_001604|choroid plexus, lateral recess	OMIM|604773;HPO|27034|Anemia, Autosomal recessive inheritance, Decreased plasma carnitine, Dilated cardiomyopathy, Muscular hypotonia
U4	EIF1AD	0.472313453	0	Unclassified	BrainSpLMD|84285	
U4	TUBAP2	0.4715607	0			
U4	CTDSP2	0.470915033	0	Enzyme: Phosphatase	BrainSpLMD|10106;Eurexp|euxassay_004324|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail	OMIM|608711
U4	PMPCB	0.468871826	0	Protease	BrainSpLMD|9512	OMIM|603131
U4	KIAA1147	0.465111081	0	Unclassified	BrainSpLMD|57189;Eurexp|euxassay_008076|mantle layer, ventricular layer	
U4	KIAA2026	0.463754877	0	Unclassified	Eurexp|euxassay_012197|olfactory, vomeronasal organ	
U4	PEA15	0.463359807	0	Transport/cargo protein	BrainSpLMD|8682;Eurexp|euxassay_011580|neural retina, ventral grey horn, ventricular layer	OMIM|603434
U4	PSMC6	0.460873696	0	Ubiquitin proteasome system protein	Eurexp|euxassay_009531|thymus primordium	OMIM|602708
U4	NRCAM	0.460437265	0	Adhesion molecule	BrainSpLMD|4897;BrainSpMouseDev|106439	SFARI||Autism, 4 - Minimal evidence;OMIM|601581
U4	CUX2	0.459387116	0	Transcription factor	BrainSpMouseDev|12829	OMIM|610648
U4	KLHL13	0.459050192	0	Cytoskeletal associated protein	BrainSpLMD|90293;Eurexp|euxassay_010975|diaphragm, footplate, handplate, mantle layer, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, vertebral axis muscle system	OMIM|300655
U4	CCDC93	0.459016483	0	Unclassified	BrainSpLMD|54520;Eurexp|euxassay_019257|adrenal gland, diencephalon, floorplate, medulla	
U4	CRB1	0.458996152	0	Unclassified	BrainSpLMD|23418	OMIM|604210;HPO|23418|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Encephalocele, Esotropia, Glaucoma, Hemiplegia/hemiparesis, High-grade hypermetropia, Hyperinsulinemia, Hypermetropia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Muscular hypotonia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paravenous chorioretinal atrophy, Pendular nystagmus, Photophobia, Progressive night blindness, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe visual impairment, Undetectable electroretinogram, Visual impairment, Vitreoretinal degeneration, Wide nasal bridge
U4	ZNHIT6	0.458990529	0	Unclassified	BrainSpLMD|54680	
U4	TM2D3	0.457645325	0	Integral membrane protein	BrainSpLMD|80213	OMIM|610014
U4	ATP2B4	0.456302849	0	ATPase	BrainSpLMD|493;Eurexp|euxassay_013200|lobe, ventral grey horn	OMIM|108732
U4	STXBP5L	0.455068128	0	Transport/cargo protein	Eurexp|euxassay_011926|mantle layer	OMIM|609381
U4	LINC00632	0.451822218	0			
U4	LAMP2	0.449790899	0	Adhesion molecule	BrainSpLMD|3920	OMIM|309060;HPO|3920|Arrhythmia, Cardiomegaly, Cardiorespiratory arrest, Cognitive impairment, Dilated cardiomyopathy, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Exercise intolerance, Exercise-induced muscle cramps, Gait disturbance, Generalized amyotrophy, Global developmental delay, Hypertrophic cardiomyopathy, Hypokinesia, Intellectual disability, Muscle flaccidity, Myocardial fibrosis, Myocardial necrosis, Pes cavus, Phenotypic variability, Proximal muscle weakness, Visual impairment, Wolff-Parkinson-White syndrome, X-linked dominant inheritance
U4	POLR3E	0.444825061	0	RNA polymerase	BrainSpLMD|55718;Eurexp|euxassay_003027|calyces, chondrocranium, foregut-midgut junction, hindgut, midgut, stomach, submandibular gland primordium	
U4	IFT52	0.443847355	0	Unclassified	BrainSpLMD|51098	OMIM|617094;HPO|51098|Abnormal diaphysis morphology, Abnormal toenail morphology, Abnormality of the fingernails, Abnormality of the metaphysis, Anteverted nares, Autosomal recessive inheritance, Brachydactyly, Carious teeth, Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Depressed nasal bridge, Dolichocephaly, Epicanthus, Everted lower lip vermilion, Finger syndactyly, Flat acetabular roof, Frontal bossing, Full cheeks, High forehead, Hypermetropia, Hypodontia, Hypoplasia of the corpus callosum, Hypotelorism, Joint hyperflexibility, Limb undergrowth, Low-set ears, Microdontia, Midface retrusion, Motor delay, Narrow chest, Osteoporosis, Pectus excavatum, Prominent occiput, Respiratory distress, Rhizomelia, Sandal gap, Short distal phalanx of finger, Short metacarpal, Short metatarsal, Short stature, Sparse hair, Telecanthus, Wide nasal bridge
U4	ARL4A	0.442579952	0	GTPase	BrainSpLMD|10124;Eurexp|euxassay_007257|lung, mandible, mantle layer, maxilla, meninges, oesophagus, urethra, vertebral axis muscle system	OMIM|604786
U4	DGKI	0.441343657	0	Lipid Kinase	BrainSpLMD|9162;Eurexp|euxassay_010174|mantle layer, marginal layer	OMIM|604072
U4	RP11.26H16.1	0.440914426	0			
U4	UBE2L6	0.437916606	0	Ubiquitin proteasome system protein	BrainSpLMD|9246;Eurexp|euxassay_013712|liver	OMIM|603890
U4	DOPEY2	0.435726598	0	Unclassified	BrainSpLMD|9980	OMIM|604803
U4	CTB.89H12.4	0.431232297	0			
U4	SMG1	0.430323866	0	Unclassified	BrainSpLMD|23049	OMIM|607032
U4	VMP1	0.428629295	0	Integral membrane protein	BrainSpLMD|81671	OMIM|611753
U4	BMS1	0.427737443	0	Unclassified	BrainSpLMD|9790	OMIM|611448;HPO|9790|Aplasia cutis congenita over the scalp vertex, Autosomal dominant inheritance, Autosomal recessive inheritance, Calvarial skull defect, Congenital localized absence of skin, Skin ulcer, Spinal dysraphism
U4	AKAP6	0.425963395	0	Anchor protein	BrainSpLMD|9472;Eurexp|euxassay_011440|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, meninges, neural retina, olfactory, skeletal muscle, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vomeronasal organ	OMIM|604691
U4	RP11.573N10.1	0.425813768	0			
U4	GPR183	0.42532776	0	G protein coupled receptor	BrainSpLMD|1880	OMIM|605741
U4	KAT7	0.421729235	0	Enzyme: Acyltransferase	BrainSpLMD|11143;BrainSpMouseDev|85129	OMIM|609880;COSMIC||CCRCC
U4	TMEM257	0.418307895	0			
U4	CTB.63M22.1	0.418068848	0			
U4	TOPBP1	0.416943026	0	Cell cycle control protein;Transcription regulatory protein	BrainSpLMD|11073	OMIM|607760
U4	RPL3P7	0.414789843	0			
U4	TAF1	0.41420192	0	DNA binding protein	BrainSpLMD|6872	SFARI||Autism, No category;OMIM|313650;HPO|6872|Adult onset, Broad chin, Broad nasal tip, Bulbous nose, Chorea, Congenital onset, Depressed nasal tip, Global developmental delay, Macrotia, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Prominent protruding coccyx, Proptosis, Protruding ear, Thickened helices, Torsion dystonia, Tremor, X-linked recessive inheritance
U4	CRNKL1	0.414006571	0	RNA binding protein	BrainSpLMD|51340	OMIM|610952;COSMIC||base cell carcinoma
U4	CBLB	0.411617183	0	Adapter molecule	BrainSpLMD|868;Eurexp|euxassay_012817|extrinsic ocular muscle, incisor, mantle layer, marginal layer, ventricular layer	OMIM|604491;COSMIC||AML
U4	PPFIA2	0.409698512	0	Anchor protein	BrainSpLMD|8499	OMIM|603143
U4	PRKRA	0.405907716	0	RNA binding protein	BrainSpLMD|8575	OMIM|603424;HPO|8575|Abnormal pyramidal signs, Autosomal recessive inheritance, Bradykinesia, Delayed speech and language development, Dysarthria, Dysphagia, Gait disturbance, Hyperreflexia, Laryngeal dystonia, Limb dystonia, Lower limb pain, Morphological abnormality of the pyramidal tract, Motor delay, Parkinsonism, Postural tremor, Progressive, Retrocollis
U4	ZFP1	0.404769311	0	DNA binding protein	BrainSpLMD|162239	OMIM|617230
U4	CHD7	0.402951112	0	DNA binding protein	Eurexp|euxassay_010758|marginal layer, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|608892;HPO|55636|Abnormality of body height, Abnormality of female internal genitalia, Abnormality of lymphocytes, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Alopecia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bifid scrotum, Breast hypoplasia, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Desquamation of skin soon after birth, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysphagia, Edema, Eosinophilia, Erectile abnormalities, Erythroderma, Esophageal atresia, Eunuchoid habitus, External ear malformation, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Female hypogonadism, Fever, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Hepatomegaly, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphopenia, Malar flattening, Male hypogonadism, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Non-obstructive azoospermia, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Pneumonia, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Secondary amenorrhea, Sensorineural hearing impairment, Severe combined immunodeficiency, Sparse body hair, Splenomegaly, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Thickened skin, Tracheoesophageal fistula, Umbilical hernia, Ventricular septal defect, Wide intermamillary distance
U4	SIPA1L2	0.401274762	0	GTPase activating protein	BrainSpLMD|57568;Eurexp|euxassay_006320|mantle layer, marginal layer, thymus primordium, ventricular layer;BrainSpMouseDev|89268	OMIM|611609
U4	PRKD1	0.400941727	0	Serine/threonine kinase	BrainSpLMD|5587	SFARI||Autism, No category;OMIM|605435;HPO|5587|Autosomal dominant inheritance, Broad thumb, Delayed speech and language development, Depressed nasal bridge, Dry skin, Feeding difficulties, Fragile nails, Generalized hypotonia, Global developmental delay, Microcephaly, Microdontia, Nystagmus, Premature loss of primary teeth, Prominent forehead, Prominent nasal bridge, Scoliosis, Sparse scalp hair, Syndactyly, Thin skin, Widely spaced teeth
U4	BICD2	0.398139503	0	Structural protein	BrainSpLMD|23299;Eurexp|euxassay_012575|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|609797;HPO|23299|Achilles tendon contracture, Areflexia, Autosomal dominant inheritance, Axial muscle weakness, Difficulty running, Gowers sign, Hyporeflexia, Motor delay, Spinal muscular atrophy, Talipes equinovarus, Toe walking, Variable expressivity, Waddling gait
U4	WEE1	0.397504722	0	Dual specificity kinase	BrainSpLMD|7465;Eurexp|euxassay_016462|hindgut, lung, midgut, stomach, submandibular gland primordium, ventricular layer	OMIM|193525
U4	MAP3K2	0.395697761	0	Serine/threonine kinase	BrainSpLMD|10746	OMIM|609487
U4	SACS	0.394333991	0	Unclassified	BrainSpLMD|26278;Eurexp|euxassay_014163|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|604490;HPO|26278|Absent Achilles reflex, Autosomal recessive inheritance, Babinski sign, Cerebellar vermis atrophy, Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Dysmetria, Falls, Hammertoe, Hypermyelinated retinal nerve fibers, Hyperreflexia, Impaired smooth pursuit, Impaired vibration sensation in the lower limbs, Infantile onset, Intellectual disability, Loss of Purkinje cells in the cerebellar vermis, Nystagmus, Pes cavus, Progressive gait ataxia, Progressive truncal ataxia, Scanning speech, Spastic ataxia, Spasticity, Swan neck-like deformities of the fingers, Urinary urgency
U4	GGNBP2	0.39191945	0	DNA binding protein	BrainSpLMD|79893	OMIM|612275
U4	PPP1CC	0.390809127	0	Serine/threonine phosphatase	BrainSpLMD|5501	OMIM|176914
U4	ATF7IP	0.389973356	0	Transcription regulatory protein	BrainSpLMD|55729	OMIM|613644
U4	C2orf68	0.388698386	0	Unclassified		
U4	ANKIB1	0.385188329	0	Unclassified		
U4	TFRC	0.37952495	0	Membrane transport protein	BrainSpLMD|7037;Eurexp|euxassay_005557|left, left lung, meninges, midgut, right, right lung, stomach, submandibular gland primordium	OMIM|190010;COSMIC||NHL;HPO|7037|Autosomal recessive inheritance, Decreased antibody level in blood, Neutropenia
U4	CCNE2	0.378232761	0	Cell cycle control protein	BrainSpLMD|9134	OMIM|603775
U4	GPATCH2L	0.374962342	0	Unclassified	BrainSpLMD|55668	
U4	ZNF649	0.37323485	0	Transcription regulatory protein	BrainSpLMD|65251	OMIM|611903
U4	AC016739.2	0.373227293	0			
U4	PPP1R9A	0.368710493	0	Cytoskeletal associated protein	Eurexp|euxassay_012258|choroid plexus, mantle layer, skeletal muscle, ventricular layer	OMIM|602468
U4	RFTN2	0.368697014	0	Unclassified	BrainSpLMD|130132	
U4	CYFIP2	0.365592438	0	Unclassified	BrainSpLMD|26999;Eurexp|euxassay_012077|Meckel's cartilage, basioccipital bone, basisphenoid bone, brain, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, olfactory, orbito-sphenoid, pelvic girdle, respiratory, rib, scapula, spinal cord, temporal bone, tibia, trigeminal V, turbinate, vestibulocochlear VIII, vomeronasal organ	OMIM|606323
U4	CERS5	0.363776305	0	Transcription regulatory protein	BrainSpLMD|91012;BrainSpMouseDev|47790	OMIM|615335
U4	RPL4P4	0.358516074	0			
U4	DCP1A	0.354913756	0	Transcription factor	BrainSpLMD|55802	OMIM|607010
U4	RPL5P34	0.354160345	0			
U4	EAF1	0.348223646	0	Transcription regulatory protein	BrainSpLMD|85403;Eurexp|euxassay_017241|olfactory	OMIM|608315
U4	SETD5	0.346107937	0	Unclassified	BrainSpLMD|55209	SFARI||Autism, 1 - High confidence;OMIM|615743;HPO|55209|Abnormally low-pitched voice, Anteverted nares, Anxiety, Astigmatism, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Clinodactyly of the 5th finger, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Downturned corners of mouth, Drooling, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hyperlordosis, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphosis, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phthisis bulbi, Premature birth, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Scoliosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Strabismus, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Upslanted palpebral fissure, Vesicoureteral reflux, Widely spaced teeth
U4	TRIP12	0.346034537	0	Transcription regulatory protein	BrainSpLMD|9320	SFARI||Autism, 1 - High confidence;OMIM|604506
U4	THUMPD3	0.344217249	0	Unclassified	BrainSpLMD|25917;Eurexp|euxassay_000043|chondrocranium, exoccipital bone, facial bones primordia, mandible, optic foramen, otic capsule	
U4	MRPL10	0.342753926	0	RNA binding protein	BrainSpLMD|124995	OMIM|611825
U4	LUZP2	0.342412205	0	Unclassified	BrainSpLMD|338645;Eurexp|euxassay_015946|marginal layer, ventricular layer	OMIM|608178
U4	NELFCD	0.34170631	0	Transcription regulatory protein	BrainSpLMD|51497	OMIM|605297
U4	RAD54L2	0.340995559	0	DNA binding protein	BrainSpLMD|23132	
U4	SART3	0.334375082	0	RNA binding protein	BrainSpLMD|9733	OMIM|611684
U4	RALGAPB	0.331646335	0	GTPase activating protein	BrainSpLMD|57148	
U4	PTPRZ1	0.327712591	0	Receptor tyrosine phosphatase	BrainSpLMD|5803;BrainSpMouseDev|19046	OMIM|176891
U4	ACBD3	0.325599582	0	Transport/cargo protein	BrainSpLMD|64746	OMIM|606809
U4	F3	0.324614447	0	Coagulation factor	BrainSpLMD|2152;Eurexp|euxassay_009157|axial muscle, calyces, epithelium, larynx, left lung, midgut, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, pyloric region, rectum, right lung, ventricular layer, vibrissa	OMIM|134390
U4	MOB3B	0.321207852	0	Unclassified	BrainSpLMD|79817;Eurexp|euxassay_011555|incisor, molar	OMIM|617652
U4	TCP1	0.318677058	0	Chaperone	BrainSpLMD|6950	OMIM|186980
U4	AC079250.1	0.316127131	0			
U4	CHMP1B	0.31407395	0	Transport/cargo protein	BrainSpLMD|57132	OMIM|606486
U4	KIF3B	0.31382439	0	Motor protein	BrainSpLMD|9371;Eurexp|euxassay_013965|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, trigeminal V, vagus X, vomeronasal organ	OMIM|603754
U4	TBC1D5	0.310370251	0	Unclassified	BrainSpLMD|9779	SFARI||Autism, 4 - Minimal evidence;OMIM|615740
U4	AC144530.1	0.309882246	0			
U4	SCRG1	0.307820672	0	Unclassified	BrainSpLMD|11341;Eurexp|euxassay_007430|axial skeleton, glossopharyngeal IX, left lung, metatarsus, nasal septum, oesophagus, orbito-sphenoid, phalanx, right lung, sternum, temporal bone, trigeminal V, turbinate	OMIM|603163
U4	HBP1	0.306158702	0	Transcription factor	BrainSpLMD|26959;BrainSpMouseDev|49230	OMIM|616714
U4	KIAA2018	0.303730167	0			
U4	FBXL20	0.302973151	0	Ubiquitin proteasome system protein	BrainSpLMD|84961	OMIM|609086
U4	NDUFA9P1	0.30243766	0			
U4	ELOVL5	0.299921882	0	Unclassified	BrainSpLMD|60481	OMIM|611805;HPO|60481|Autosomal dominant inheritance, Cerebellar atrophy, Dysarthria, Gait ataxia, Limb ataxia, Nystagmus, Slow progression, Slow saccadic eye movements
U4	TET2	0.291116507	0	Unclassified	BrainSpLMD|54790	SFARI||Autism, No category;OMIM|612839;COSMIC||MDS;HPO|54790|Abdominal pain, Abnormal platelet morphology, Acute leukemia, Amaurosis fugax, Angina pectoris, Arterial thrombosis, Arthralgia, Bruising susceptibility, Chest pain, Epistaxis, Fatigue, Gingival bleeding, Headache, Hepatomegaly, Increased megakaryocyte count, Myelodysplasia, Myelofibrosis, Myocardial infarction, Paresthesia, Prolonged bleeding time, Respiratory insufficiency, Somatic mutation, Splenomegaly, Tinnitus, Transient ischemic attack, Venous thrombosis, Vertigo, Weight loss
U4	RPL39P3	0.289467261	0			
U4	TMEM181	0.287196173	0	Unclassified		OMIM|613209
U4	SAMD8	0.284344869	0	Integral membrane protein	BrainSpLMD|142891	OMIM|611575
U4	H3F3AP4	0.282185758	0			
U4	DOCK11	0.281733749	0	Unclassified	BrainSpLMD|139818	OMIM|300681
U4	SRPRB	0.275607653	0	GTPase	BrainSpLMD|58477;Eurexp|euxassay_010365|basioccipital bone, clavicle, femur, humerus, mandible, maxilla, naris, orbito-sphenoid, rib, sternum, tibia, turbinate bones	OMIM|616883
U4	FNIP2	0.271631262	0	Unclassified		OMIM|612768
U4	LARP4B	0.266465174	0	RNA binding protein	BrainSpLMD|23185;Eurexp|euxassay_009421|vertebral axis muscle system	OMIM|616513;COSMIC||CRC, glioma
U4	SUCLA2	0.260451678	0	Enzyme: Synthase	BrainSpLMD|8803;Eurexp|euxassay_018605|dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, right lung, trigeminal V, vagus X	OMIM|603921;HPO|8803|Abnormal electroretinogram, Abnormality of the basal ganglia, Abnormality of visual evoked potentials, Aminoaciduria, Ataxia, Athetosis, Autosomal recessive inheritance, Behavioral abnormality, Cachexia, Cerebral atrophy, Cerebral calcification, Decreased activity of mitochondrial respiratory chain, Decreased nerve conduction velocity, Delayed gross motor development, Dystonia, Elevated serum creatine phosphokinase, Facial diplegia, Failure to thrive, Feeding difficulties in infancy, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hyporeflexia, Infantile onset, Intellectual disability, progressive, Irritability, Lactic acidosis, Loss of ability to walk in early childhood, Methylmalonic acidemia, Methylmalonic aciduria, Microcephaly, Ophthalmoplegia, Peripheral neuropathy, Progressive encephalopathy, Ptosis, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment, Short stature, Skeletal muscle atrophy, Spasticity, Strabismus, Ventriculomegaly, Visual impairment
U4	ZNF521	0.257667404	0	Transcription regulatory protein	BrainSpLMD|25925;BrainSpMouseDev|86218	OMIM|610974;COSMIC||ALL
U4	FAM65B	0.257611001	0			
U4	AL133243.1	0.257297096	0			
U4	CRKL	0.256482033	0	Adapter molecule	BrainSpLMD|1399	OMIM|602007;HPO|1399|Abnormality of earlobe, Absent fingernail, Absent toenail, Clinodactyly of the 5th finger, Deeply set eye, Global developmental delay, Highly arched eyebrow, Intellectual disability, Intrauterine growth retardation, Language impairment, Microcephaly, Neoplasm, Pes planus, Pointed chin, Premature birth, Short stature, Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Underdeveloped nasal alae
U4	LIFR	0.253565255	0	Cytokine receptor	BrainSpLMD|3977;Eurexp|euxassay_010649|axial muscle, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, orbito-sphenoid, thymus primordium, thyroid, tongue, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16651	OMIM|151443;COSMIC||salivary adenoma;HPO|3977|Abnormal metaphyseal trabeculation, Abnormality of dental enamel, Abnormality of vision, Absent patellar reflexes, Adducted thumb, Apnea, Asthma, Autosomal recessive inheritance, Blotching pigmentation of the skin, Broad ischia, Camptodactyly of finger, Contracture of the proximal interphalangeal joint of the 5th finger, Dysautonomia, Dysphagia, Elbow flexion contracture, Enlarged joints, Episodic fever, Feeding difficulties, Feeding difficulties in infancy, Femoral bowing, Flared metaphysis, Flexion contracture of toe, Frontal bossing, Generalized hypotonia, Genu valgum, Hoarse voice, Hyperhidrosis, Hypohidrosis, Hypoplastic iliac body, Impaired pain sensation, Intrauterine growth retardation, Knee flexion contracture, Lacrimation abnormality, Low-set ears, Malar flattening, Metaphyseal rarefaction, Metaphyseal widening, Micrognathia, Micromelia, Midface retrusion, Myotonia, Nasal speech, Oligohydramnios, Opacification of the corneal stroma, Osteopenia, Osteoporosis, Paresthesia, Pathologic fracture, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Pursed lips, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Short neck, Short nose, Short palpebral fissure, Short phalanx of finger, Short stature, Short tibia, Single transverse palmar crease, Skeletal dysplasia, Smooth tongue, Square face, Talipes, Talipes equinovarus, Talipes valgus, Thickened cortex of long bones, Thin ribs, Thin skin, Tibial bowing, Trismus, Ulnar deviation of finger, Wide nasal base
U4	ROCK1	0.251661688	0	Serine/threonine kinase	BrainSpLMD|6093	OMIM|601702
U4	PTGES2	2.472396704	1.11E-16	Enzyme: Isomerase	BrainSpLMD|80142	OMIM|608152
U4	KCNJ9	2.2991793	1.11E-16	Inward rectifier channel	BrainSpLMD|3765	OMIM|600932
U4	AC108488.4	2.268940066	1.11E-16			
U4	RP11.204E9.1	2.173931108	1.11E-16			
U4	MIR4519	2.165248757	1.11E-16			
U4	RP11.96K19.2	2.01095865	1.11E-16			
U4	FCGBP	1.969364893	1.11E-16	Unclassified	BrainSpLMD|8857	OMIM|617553
U4	NAGPA	1.876093069	1.11E-16	Enzyme: Hydrolase	BrainSpLMD|51172;Eurexp|euxassay_018726|thymus primordium	OMIM|607985
U4	QSOX2	1.668785861	1.11E-16	Unclassified	BrainSpLMD|169714	OMIM|612860
U4	RP11.408J6.1	1.66407076	1.11E-16			
U4	RP11.380B4.3	1.630246715	1.11E-16			
U4	C12orf79	1.629140269	1.11E-16			
U4	ZBTB48	1.612593926	1.11E-16	Transcription factor	BrainSpLMD|3104	OMIM|165270
U4	LYRM9	1.608161802	1.11E-16	Unclassified	BrainSpLMD|201229	
U4	RP13.582O9.5	1.56204814	1.11E-16			
U4	SORD	1.544283647	1.11E-16	Enzyme: Dehydrogenase	BrainSpLMD|6652	OMIM|182500
U4	MXD4	1.437731588	1.11E-16	Transcription regulatory protein	BrainSpLMD|10608;Eurexp|euxassay_004800|mandible, maxilla, orbito-sphenoid, rib;BrainSpMouseDev|16892	
U4	AARS2	1.388713352	1.11E-16	Unclassified;Enzyme: Synthase	BrainSpLMD|57505	OMIM|612035;HPO|57505|Apraxia, Ataxia, Autosomal recessive inheritance, Death in infancy, Dementia, Depressivity, Dysarthria, Dystonia, EEG abnormality, Failure to thrive, Generalized muscle weakness, Hypertrophic cardiomyopathy, Increased serum lactate, Lactic acidosis, Loss of speech, Neurodegeneration, Nystagmus, Periventricular leukomalacia, Premature ovarian insufficiency, Progressive, Progressive leukoencephalopathy, Pulmonary hypoplasia, Spasticity, Tremor
U4	MAGOH	1.317260549	1.11E-16	Cell cycle control protein	BrainSpLMD|4116	OMIM|602603
U4	FARP2	1.305363986	1.11E-16	Cytoskeletal protein	BrainSpLMD|9855	OMIM|617586
U4	THOC5	1.18960394	1.11E-16	Unclassified	BrainSpLMD|8563	OMIM|612733
U4	MTHFR	1.170595262	1.11E-16	Enzyme: Oxidoreductase	BrainSpLMD|4524	SFARI||Autism, 4 - Minimal evidence;OMIM|607093;HPO|4524|Anencephaly, Autosomal recessive inheritance, Behavioral abnormality, Gait disturbance, Global developmental delay, Homocystinuria, Hyperhomocystinemia, Incoordination, Microcephaly, Muscle weakness, Paresthesia, Primary adrenal insufficiency, Seizures, Stroke
U4	MUM1	1.004746426	1.11E-16	Unclassified	BrainSpLMD|84939;Eurexp|euxassay_005157|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lung, mantle layer, metanephros, molar, naris, olfactory, respiratory, retina, thoracic, thymus primordium, tongue, trigeminal V, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	
U4	ICT1	0.979974334	1.11E-16			
U4	SFMBT2	0.971685776	1.11E-16	Unclassified		OMIM|615392
U4	ZNF445	0.967511982	1.11E-16	DNA binding protein	BrainSpLMD|353274;BrainSpMouseDev|88115	
U4	GPD1	0.961339197	1.11E-16	Enzyme: Dehydrogenase	BrainSpLMD|2819;Eurexp|euxassay_018516|axial muscle, calyces, left, mantle layer, right, thyroid, ventricular layer	OMIM|138420;HPO|2819|Autosomal recessive inheritance, Elevated hepatic transaminases, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Infantile onset, Short stature
U4	RP11.305O4.2	0.894744886	1.11E-16			
U4	C7orf60	0.853539682	1.11E-16			
U4	MECP2	0.849312754	1.11E-16	DNA binding protein	BrainSpLMD|4204;Eurexp|euxassay_018349|dorsal root ganglion	SFARI||Autism, 2 - Strong candidate;OMIM|300005;HPO|4204|Abnormal T-wave, Abnormality of chromosome segregation, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of the antitragus, Abnormality of the dentition, Abnormality of the fingernails, Abnormality of the metacarpal bones, Absent speech, Anxiety, Aplasia/Hypoplasia of the cerebellum, Apnea, Apraxia, Ataxia, Autism, Autistic behavior, Babinski sign, Blepharophimosis, Brachycephaly, Bruxism, Cachexia, Camptodactyly of finger, Central hypoventilation, Cerebral cortical atrophy, Chorea, Choreoathetosis, Clinodactyly of the 5th finger, Congenital onset, Constipation, Cryptorchidism, Delayed skeletal maturation, Delayed speech and language development, Dementia, Depressed nasal bridge, Depressivity, Developmental regression, Drooling, Dysphagia, Dysphasia, Dystonia, EEG abnormality, Encephalopathy, Epicanthus, Everted lower lip vermilion, Excessive salivation, Facial hypotonia, Failure to thrive, Feeding difficulties in infancy, Fine hair, Gait apraxia, Gait ataxia, Gait disturbance, Gastroesophageal reflux, Global developmental delay, Hearing impairment, Hernia of the abdominal wall, High palate, Hyperreflexia, Hypospadias, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, mild, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Intermittent hyperventilation, Kyphosis, Long philtrum, Low-set ears, Macrocephaly, Macroorchidism, Macrotia, Malar flattening, Microcephaly, Micrognathia, Midface retrusion, Motor deterioration, Muscular hypotonia of the trunk, Myoclonus, Narrow mouth, Nephrolithiasis, Neurological speech impairment, Parkinsonism, Pectus excavatum, Pes cavus, Polymicrogyria, Poor eye contact, Postnatal microcephaly, Progressive, Progressive microcephaly, Progressive spasticity, Prolonged QTc interval, Psychosis, Ptosis, Recurrent respiratory infections, Respiratory insufficiency, Rigidity, Scoliosis, Seizures, Severe global developmental delay, Short foot, Short neck, Short stature, Shuffling gait, Skeletal muscle atrophy, Slow progression, Spastic gait, Spasticity, Stereotypy, Tented upper lip vermilion, Thick vermilion border, Tremor, Truncal ataxia, Underdeveloped nasal alae, Ventriculomegaly, Wide mouth, Wide nose, X-linked dominant inheritance, X-linked recessive inheritance
U4	SHROOM3	0.832199239	1.11E-16	Adapter molecule	BrainSpLMD|57619;Eurexp|euxassay_012216|cortex, midgut, olfactory, ventricular layer, vertebral axis muscle system	OMIM|604570
U4	WDR76	0.810279119	1.11E-16	Unclassified	BrainSpLMD|79968	
U4	LINC00909	0.809365388	1.11E-16			
U4	COQ9	0.791915762	1.11E-16	Unclassified	BrainSpLMD|57017	OMIM|612837;HPO|57017|Autosomal recessive inheritance, Bradycardia, Cerebellar atrophy, Cerebral atrophy, Dystonia, Encephalopathy, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hyperalaninemia, Hyperreflexia, Increased serum lactate, Intrauterine growth retardation, Lactic acidosis, Left ventricular hypertrophy, Postnatal microcephaly, Respiratory insufficiency, Seizures, Weak cry
U4	ZNF142	0.765027316	1.11E-16	DNA binding protein	BrainSpLMD|7701	OMIM|604083
U4	LRRC28	0.761077452	1.11E-16	Unclassified	BrainSpLMD|123355	
U4	UBN2	0.742459245	1.11E-16	Unclassified		SFARI||Autism, 2 - Strong candidate;OMIM|613841
U4	POLR2C	0.736631574	1.11E-16	Transcription regulatory protein	BrainSpLMD|5432	OMIM|180663
U4	PCYT1B	0.646958924	1.11E-16	Enzyme: Nucleotidyltransferase	BrainSpLMD|9468;Eurexp|euxassay_004655|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|300948
U4	PSMD5	0.638430945	1.11E-16	Ubiquitin proteasome system protein	BrainSpLMD|5711	OMIM|604452
U4	ETAA1	0.581898337	1.11E-16	Unclassified	BrainSpLMD|54465	OMIM|613196
U4	TMEM138	0.573235236	1.11E-16	Integral membrane protein	BrainSpLMD|51524;Eurexp|euxassay_012505|choroid invagination, choroid plexus, ventricular layer	OMIM|614459;HPO|51524|Apnea, Ataxia, Autistic behavior, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Coloboma, Global developmental delay, Intellectual disability, Iris coloboma, Long face, Low-set, posteriorly rotated ears, Molar tooth sign on MRI, Muscular hypotonia, Nephropathy, Nystagmus, Oculomotor apraxia, Ptosis, Retinal dystrophy, Tachypnea
U4	C2orf44	0.553908621	1.11E-16			
U4	YARS	0.541824493	1.11E-16	Enzyme: Ligase	BrainSpLMD|8565	OMIM|603623;HPO|8565|Abnormality of the foot, Autosomal dominant inheritance, Axonal regeneration, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Upper limb muscle weakness
U4	ARMCX3	0.514861667	1.11E-16	Unclassified	BrainSpLMD|51566;Eurexp|euxassay_007266|mandible, mantle layer, maxilla, tongue, ventral grey horn	OMIM|300364
U4	FANCM	0.486840764	1.11E-16	ATPase;Enzyme: Translocase	BrainSpLMD|57697;Eurexp|euxassay_008121|lung, mandible, petrous part	OMIM|609644;HPO|57697|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Esophageal atresia, Global developmental delay, Growth delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
U4	XRN2	0.485019787	1.11E-16	Ribonuclease	BrainSpLMD|22803	OMIM|608851
U4	EXOC5	0.465512765	1.11E-16	Transport/cargo protein	BrainSpLMD|10640;Eurexp|euxassay_006589|embryo	SFARI||Autism, No category;OMIM|604469
U4	AKR1B1	0.46495357	1.11E-16	Enzyme: Oxidoreductase	BrainSpLMD|231	OMIM|103880
U4	PTK2	0.448680045	1.11E-16	Tyrosine kinase	BrainSpLMD|5747;Eurexp|euxassay_018801|ventricle;BrainSpMouseDev|13860	OMIM|600758
U4	FBXO11	0.440612971	1.11E-16	Ubiquitin proteasome system protein	BrainSpLMD|80204	OMIM|607871;COSMIC||DLBCL
U4	TRUB1	0.422178322	1.11E-16	Enzyme: Synthase	BrainSpLMD|142940;Eurexp|euxassay_005906|pectoral girdle and thoracic body wall	OMIM|610726
U4	NARS	0.419128919	1.11E-16	Enzyme: Ligase	BrainSpLMD|4677	OMIM|108410
U4	NBAS	0.323787936	1.11E-16	Unclassified	BrainSpLMD|51594	OMIM|608025;HPO|51594|Autosomal recessive inheritance, Brachycephaly, Brachydactyly, Cutis laxa, Epicanthus, Facial asymmetry, Fine hair, Long face, Long philtrum, Micromelia, Muscular hypotonia, Narrow forehead, Nonprogressive visual loss, Optic atrophy, Postnatal growth retardation, Prominent glabella, Proptosis, Reduced visual acuity, Sandal gap, Short neck, Short stature, Thick eyebrow, Thin vermilion border
U4	DMTF1	0.293096127	1.11E-16	Transcription factor	BrainSpLMD|9988	OMIM|608491
U4	NFE2L2	0.278960343	1.11E-16	Transcription factor	BrainSpLMD|4780;Eurexp|euxassay_018087|larynx, midgut, rectum, stomach, submandibular gland primordium, thyroid, trachea;BrainSpMouseDev|17791	OMIM|600492;COSMIC||NSCLC, HNSCC
U4	ASH1L	0.271178679	1.11E-16	Transcription factor	BrainSpLMD|55870	SFARI||Autism, 1 - High confidence;OMIM|607999
U4	PCF11	0.268550357	1.11E-16	RNA binding protein	BrainSpLMD|51585	OMIM|608876
U4	SLCO5A1	0.267866946	1.11E-16	Membrane transport protein	BrainSpLMD|81796;Eurexp|euxassay_019698|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, pericardium, trigeminal V, vestibulocochlear VIII	OMIM|613543
U4	USP44	0.251037798	1.11E-16	Ubiquitin proteasome system protein	BrainSpLMD|84101	OMIM|610993
U4	PRKCQ.AS1	2.199007737	2.22E-16			
U4	FOXO3B	1.991481663	2.22E-16			
U4	CYP27C1	1.937573723	2.22E-16	Unclassified	BrainSpLMD|339761	
U4	CHRM3	1.905271577	2.22E-16	G protein coupled receptor	BrainSpLMD|1131;BrainSpMouseDev|12456	SFARI||Autism, No category;OMIM|118494;HPO|1131|Abnormal heart morphology, Abnormality of the ribs, Abnormality of the skin, Anal atresia, Aplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the lungs, Autosomal recessive inheritance, Congenital hip dislocation, Congenital posterior urethral valve, Constipation, Cryptorchidism, Decreased fertility, Decreased testicular size, Hydronephrosis, Hydroureter, Multicystic kidney dysplasia, Oligohydramnios, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Prune belly, Recurrent respiratory infections, Recurrent urinary tract infections, Renal insufficiency, Talipes equinovarus, Vesicoureteral reflux, Xerostomia
U4	PCDHGC3	1.501447547	2.22E-16	Unclassified		OMIM|603627
U4	CELSR3	1.28545417	2.22E-16	Adhesion molecule	BrainSpLMD|1951;Eurexp|euxassay_007152|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, olfactory, spinal cord, telencephalon, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|72096	OMIM|604264
U4	APOD	1.146996619	2.22E-16	Transport/cargo protein	BrainSpLMD|347;Eurexp|euxassay_001865|Meckel's cartilage, body-wall mesenchyme, clavicle, cochlea, cochlear duct, intervertebral disc, lateral wall, lip, meninges, oral epithelium, penis, sacral region, turbinate bones, vibrissa;BrainSpMouseDev|11602	OMIM|107740
U4	TUBD1	1.132633706	2.22E-16	Cytoskeletal protein	BrainSpLMD|51174	OMIM|607344
U4	CAPZB	0.988013938	2.22E-16	Cytoskeletal protein	BrainSpLMD|832;Eurexp|euxassay_011596|thymus primordium, thyroid	OMIM|601572
U4	MAN2A2	0.974403336	2.22E-16	Enzyme: Hydroxylase	BrainSpLMD|4122	OMIM|600988
U4	DPYD	0.922900458	2.22E-16	Enzyme: Dehydrogenase	Eurexp|euxassay_000078|Meckel's cartilage, alar plate, alveolar sulcus, cerebellum, cerebral cortex, choroid plexus, cranial muscle, dorsal root ganglion, epithelium, gut, hypothalamus, incisor, inner ear, internal sphincter, labyrinth, lamina terminalis, lateral wall, lower jaw, lumen, lung, mantle layer, marginal layer, masseter, meatus, mesenchyme, metanephros, metencephalon, midbrain, nasal cavity, neurohypophysis, nucleus pulposus, oesophagus, olfactory, ossicle, otic capsule, pectoral girdle and thoracic body wall, pelvic girdle, rest of cerebellum, retina, salivary gland, skeletal muscle, sublingual gland primordium, thalamus, thymus primordium, thyroid, tubo-tympanic recess, turbinate bones, urorectal septum, vagus X, ventricular layer, vertebral axis muscle system, vestibular component, vibrissa, vomeronasal organ	SFARI||Autism, 4 - Minimal evidence;OMIM|612779;HPO|1806|Abnormal eating behavior, Abnormality of vision, Astigmatism, Autism, Autistic behavior, Autosomal recessive inheritance, Broad nasal tip, Cerebral atrophy, Coloboma, Deeply set eye, Delayed speech and language development, Failure to thrive, Full cheeks, Generalized hypotonia, Global developmental delay, Growth delay, Hyperactivity, Hypertonia, Intellectual disability, Intellectual disability, mild, Lethargy, Long ear, Macrocephaly, Microcephaly, Microphthalmia, Motor delay, Myopia, Nystagmus, Obesity, Optic atrophy, Phenotypic variability, Reduced dihydropyrimidine dehydrogenase activity, Seizures, Short nose, Shyness, Tetraplegia, Upslanted palpebral fissure
U4	TMEM35	0.841908764	2.22E-16			
U4	DCUN1D2	0.796155952	2.22E-16	Unclassified	BrainSpLMD|55208	
U4	ZNF286B	0.779982361	2.22E-16	Unclassified		
U4	WDR17	0.767853026	2.22E-16	Unclassified	BrainSpLMD|116966;Eurexp|euxassay_005530|brain, olfactory, spinal cord	OMIM|609005
U4	TOP3A	0.716978926	2.22E-16	Enzyme: Topoisomerase	BrainSpLMD|7156	OMIM|601243
U4	WIPI2	0.587828189	2.22E-16	Unclassified	BrainSpLMD|26100;Eurexp|euxassay_003259|dorsal root ganglion, epidermal component, facial VII, inferior, submandibular gland primordium, superior, trigeminal V, vagus X, ventricular layer	OMIM|609225
U4	FBXO21	0.564268493	2.22E-16	Ubiquitin proteasome system protein	BrainSpLMD|23014;Eurexp|euxassay_006858|cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|609095
U4	PPP1R2	0.504504604	2.22E-16	Cell cycle control protein	BrainSpLMD|5504;Eurexp|euxassay_009514|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, trigeminal V, vagus X	OMIM|601792
U4	AC022431.1	0.440727479	2.22E-16			
U4	NGDN	0.4362811	2.22E-16	Unclassified	BrainSpLMD|25983	OMIM|610777
U4	PIGL	0.413979822	2.22E-16	Enzyme: Deacetylase	BrainSpLMD|9487	OMIM|605947;HPO|9487|Acute lymphoblastic leukemia, Autosomal recessive inheritance, Brachycephaly, Broad-based gait, Cerebral atrophy, Cleft palate, Clinodactyly of the 5th finger, Conductive hearing impairment, Depressed nasal bridge, Duplicated collecting system, Epicanthus, Fine hair, Frontal bossing, Generalized hypotonia, Hydronephrosis, Hypertelorism, Hypoplastic nipples, Intellectual disability, Joint contracture of the hand, Large for gestational age, Large hands, Long foot, Low-set nipples, Overfolded helix, Palmoplantar hyperkeratosis, Peripheral pulmonary artery stenosis, Prominent forehead, Retinal coloboma, Seizures, Short philtrum, Sparse hair, Tetralogy of Fallot, Thick lower lip vermilion, Transposition of the great arteries, Ureteropelvic junction obstruction, Ventricular septal defect, Violent behavior, Webbed neck, Wide mouth, Wide nasal bridge, Widely spaced teeth
U4	ANKH	0.407542954	2.22E-16	Membrane transport protein	BrainSpLMD|56172	OMIM|605145;HPO|56172|Abnormality of pelvic girdle bone morphology, Abnormality of the intervertebral disk, Abnormality of the metaphysis, Abnormality of the nasopharynx, Abnormality of the vertebral column, Adult onset, Arthralgia, Arthritis, Arthropathy, Autosomal dominant inheritance, Bony paranasal bossing, Calcification of cartilage, Calvarial osteosclerosis, Club-shaped distal femur, Craniofacial hyperostosis, Depressed nasal bridge, Erlenmeyer flask deformity of the femurs, Facial palsy, Hypertelorism, Joint swelling, Macrocephaly, Mandibular prognathia, Metaphyseal widening, Misalignment of teeth, Mixed hearing impairment, Nasal obstruction, Osteoarthritis, Osteopetrosis, Polyarticular chondrocalcinosis, Sclerosis of skull base, Skeletal dysplasia, Telecanthus, Wide nasal bridge
U4	MARS	0.3976648	2.22E-16	Enzyme: Ligase	BrainSpLMD|4141	OMIM|156560;HPO|4141|Alveolar proteinosis, Aminoaciduria, Anemia, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Clubbing, Cough, Decreased liver function, Distal sensory impairment, Dyspnea, Elevated hepatic transaminases, Failure to thrive, Foot dorsiflexor weakness, Hepatic steatosis, Hepatomegaly, Hypothyroidism, Interstitial pulmonary abnormality, Peripheral axonal neuropathy, Progressive, Respiratory insufficiency, Slow progression, Steppage gait, Variable expressivity
U4	COPB1	0.323178114	2.22E-16	Transport/cargo protein	BrainSpLMD|1315;Eurexp|euxassay_012132|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, rib, tibia, turbinate bones, vault of skull	OMIM|600959
U4	RPS3AP6	0.287715819	2.22E-16			
U4	EPS8	0.267687597	2.22E-16	Adapter molecule	BrainSpLMD|2059;Eurexp|euxassay_004434|adrenal gland, lung, mantle layer, marginal layer, mesenchyme, metanephros, midgut, nasal septum, pancreas, rectum, testis, thymus primordium, turbinate bones	SFARI||Autism, No category;OMIM|600206;HPO|2059|Autosomal recessive inheritance, Congenital onset, Profound hearing impairment
U4	ELL2	0.26219808	2.22E-16	Transcription factor	BrainSpLMD|22936	OMIM|601874
U4	NR1H3	2.082345166	3.33E-16	Nuclear receptor	BrainSpLMD|10062;BrainSpMouseDev|22016	OMIM|602423
U4	CMPK2	2.061334264	3.33E-16	Unclassified	BrainSpLMD|129607;Eurexp|euxassay_007751|dorsal root ganglion, facial VII, glossopharyngeal IX, liver, trigeminal V, vagus X	OMIM|611787
U4	CACFD1	1.788806904	3.33E-16	Integral membrane protein		OMIM|613104
U4	S100B	1.420534566	3.33E-16	Calcium binding protein	BrainSpLMD|6285;BrainSpMouseDev|19966	OMIM|176990
U4	STS	1.354389654	3.33E-16	Enzyme: Sulphatase	BrainSpLMD|412	OMIM|300747;HPO|412|Abnormality of metabolism/homeostasis, Attention deficit hyperactivity disorder, Congenital ichthyosiform erythroderma, Corneal opacity, Cryptorchidism, Dry skin, Dysphasia, Global developmental delay, Hyperkeratosis, Hypohidrosis, Ichthyosis, Intellectual disability, Neoplasm, Opacification of the corneal stroma, X-linked recessive inheritance
U4	AP5S1	1.308172287	3.33E-16	Unclassified	BrainSpLMD|55317	OMIM|614824
U4	NT5C3B	1.23935452	3.33E-16	Unclassified	BrainSpLMD|115024	
U4	CREBL2	0.978881868	3.33E-16	DNA binding protein	BrainSpLMD|1389	OMIM|603476
U4	TBC1D1	0.880632086	3.33E-16	Unclassified	BrainSpLMD|23216	OMIM|609850
U4	CUEDC2	0.844975068	3.33E-16	Ubiquitin proteasome system protein	BrainSpLMD|79004	OMIM|614142
U4	SMARCC2	0.638198967	3.33E-16	Transcription factor	BrainSpLMD|6601	SFARI||Autism, 2 - Strong candidate;OMIM|601734
U4	BECN1	0.618735833	3.33E-16	Adapter molecule	BrainSpLMD|8678;Eurexp|euxassay_007144|embryo	OMIM|604378
U4	CAMSAP1	0.522906675	3.33E-16	Unclassified	BrainSpLMD|157922	OMIM|613774
U4	ARFGAP3	0.509442026	3.33E-16	GTPase activating protein	BrainSpLMD|26286	OMIM|612439
U4	UBE2G2	0.49159333	3.33E-16	Ubiquitin proteasome system protein	BrainSpLMD|7327	OMIM|603124
U4	DHX15	0.268418869	3.33E-16	RNA binding protein	BrainSpLMD|1665	OMIM|603403
U4	SELO	2.140172559	4.44E-16			
U4	MED9	1.514042525	4.44E-16	Transcription regulatory protein	BrainSpLMD|55090	OMIM|609878
U4	LETM1	0.98245204	4.44E-16	Calcium binding protein	BrainSpLMD|3954	OMIM|604407;HPO|3954|Abnormal form of the vertebral bodies, Abnormal sternal ossification, Abnormality of the heart valves, Abnormality of the kidney, Abnormality of the pinna, Absent septum pellucidum, Accessory spleen, Aplasia cutis congenita of scalp, Aplasia/Hypoplasia of the lungs, Arachnodactyly, Ataxia, Atrial septal defect, Autosomal dominant inheritance, Calvarial skull defect, Cavum septum pellucidum, Cleft palate, Cleft upper lip, Congenital diaphragmatic hernia, Convex nasal ridge, Craniofacial asymmetry, Cryptorchidism, Decreased fetal movement, Decreased muscle mass, Delayed skeletal maturation, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Ectopia pupillae, Epicanthus, Failure to thrive, Frontal bossing, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemangioma, High anterior hairline, High forehead, Highly arched eyebrow, Hip dislocation, Hyperconvex fingernails, Hypertelorism, Hypodontia, Hypoplastic pubic rami, Hypospadias, Intellectual disability, severe, Intrauterine growth retardation, Iris coloboma, Kyphosis, Low posterior hairline, Low-set, posteriorly rotated ears, Malrotation of small bowel, Metatarsus adductus, Microcephaly, Micrognathia, Microtia, Muscular hypotonia, Nystagmus, Optic atrophy, Periventricular cysts, Preauricular pit, Preauricular skin tag, Preaxial hand polydactyly, Precocious puberty, Prominent glabella, Proptosis, Pseudoepiphyses of the metacarpals, Ptosis, Radioulnar synostosis, Rib fusion, Rib segmentation abnormalities, Rieger anomaly, Sacral dimple, Scoliosis, Seizures, Severe postnatal growth retardation, Short hallux, Short philtrum, Short stature, Short thumb, Short upper lip, Small for gestational age, Split hand, Sporadic, Stenosis of the external auditory canal, Stereotypy, Strabismus, Talipes equinovarus, Tethered cord, Ventricular septal defect, Ventriculomegaly, Vertebral fusion, Wide nasal bridge
U4	DNAJB6	0.88192668	4.44E-16	Chaperone	BrainSpLMD|10049;Eurexp|euxassay_001462|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V	OMIM|611332;HPO|10049|Adult onset, Autosomal dominant inheritance, Difficulty climbing stairs, Dysphagia, Elevated serum creatine phosphokinase, Gowers sign, Muscle fiber splitting, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Shoulder girdle muscle weakness, Slow progression, Waddling gait
U4	ZCCHC8	0.680886389	4.44E-16	Unclassified	BrainSpLMD|55596	OMIM|616381;COSMIC||Spitzoid tumour
U4	IQGAP2	0.52153876	4.44E-16	GTPase activating protein	BrainSpLMD|10788;Eurexp|euxassay_013405|adrenal gland, incisor, intervertebral disc, lobe, mandible, mesenchyme, metanephros, midgut, oesophagus, skeletal muscle, stomach, thymus primordium, ventricular layer, vertebral axis muscle system, vertebral cartilage condensation	OMIM|605401
U4	EXOSC7	0.368267075	4.44E-16	Ribonuclease	BrainSpLMD|23016;Eurexp|euxassay_012334|cortex, incisor, liver, medullary stroma, molar, pancreas, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|606488
U4	ZKSCAN1	0.250101518	4.44E-16	Transcription regulatory protein	BrainSpLMD|7586;Eurexp|euxassay_012753|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, olfactory, spinal cord, trigeminal V, vagus X;BrainSpMouseDev|50411	OMIM|601260
U4	RRP36	1.481119042	5.55E-16	Unclassified	BrainSpLMD|88745	OMIM|613475
U4	AATF	1.089487472	5.55E-16	Transcription factor	BrainSpLMD|26574;Eurexp|euxassay_012625|cortex, incisor, lobe, mantle layer, molar, submandibular gland primordium, testis, thymus primordium, ventricular layer;BrainSpMouseDev|35601	OMIM|608463
U4	ADAMTS1	0.869335625	5.55E-16	Metallo protease	BrainSpLMD|9510;Eurexp|euxassay_004197|clavicle, cranium, mandible, maxilla, rib	OMIM|605174
U4	EIF2B2	0.735588601	5.55E-16	Translation regulatory protein	BrainSpLMD|8892;Eurexp|euxassay_000019|dorsal root ganglion, ganglion, vibrissa	OMIM|606454;HPO|8892|Autosomal recessive inheritance, CNS demyelination, Cerebral hypomyelination, Cessation of head growth, Decreased circulating progesterone, Delusions, Developmental regression, Dysarthria, Emotional lability, Generalized hypotonia, Juvenile onset, Lethargy, Leukoencephalopathy, Macrocephaly, Memory impairment, Optic atrophy, Personality changes, Premature ovarian insufficiency, Primary gonadal insufficiency, Secondary amenorrhea, Seizures, Spasticity, Unsteady gait
U4	RANBP17	0.627642869	5.55E-16	Transport/cargo protein	BrainSpLMD|64901	SFARI||Autism, 2 - Strong candidate;OMIM|606141
U4	DEDD	0.45681665	5.55E-16	DNA binding protein	BrainSpLMD|9191	OMIM|606841
U4	ACAP2	0.379183887	5.55E-16	GTPase activating protein	BrainSpLMD|23527	OMIM|607766
U4	CNP	0.336424554	5.55E-16	Enzyme: Phosphodiesterase	BrainSpLMD|1267;BrainSpMouseDev|12582	OMIM|123830
U4	RAPGEF3	2.252846966	6.66E-16	Guanine nucleotide exchange factor	BrainSpLMD|10411;Eurexp|euxassay_005054|mantle layer, thalamus	OMIM|606057
U4	IMP4	1.140991769	6.66E-16	RNA binding protein	BrainSpLMD|92856;Eurexp|euxassay_003515|axial muscle, submandibular gland primordium, thymus primordium, vibrissa	OMIM|612981
U4	WIPF2	0.864510929	6.66E-16	Cytoskeletal associated protein		OMIM|609692
U4	SNX13	0.271912476	6.66E-16	Transport/cargo protein	BrainSpLMD|23161	OMIM|606589
U4	MAGED2	0.257204353	6.66E-16	Unclassified	BrainSpLMD|10916	OMIM|300470;HPO|10916|Fetal polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Hyponatremia, Increased circulating renin level, Medullary nephrocalcinosis, Polyhydramnios, Polyuria, Premature birth, X-linked recessive inheritance
U4	RP11.709A23.2	1.954874674	7.77E-16			
U4	RP11.359E3.4	1.417249702	7.77E-16			
U4	FOXK2	0.800963375	7.77E-16	Transcription factor;DNA binding protein	BrainSpLMD|3607;BrainSpMouseDev|44679	OMIM|147685
U4	RPL7L1	0.766990984	7.77E-16	Ribosomal subunit	Eurexp|euxassay_007021|embryo	OMIM|617417
U4	RPL7AP6	0.483078173	7.77E-16			
U4	ZNF561	0.397300501	7.77E-16	Unclassified	BrainSpLMD|93134	
U4	NBPF25P	1.930903343	8.88E-16			
U4	SMPD1	1.60198821	8.88E-16	Enzyme: Esterase	BrainSpLMD|6609;Eurexp|euxassay_018695|choroid invagination, choroid plexus	OMIM|607608;HPO|6609|Abnormal macular morphology, Athetosis, Autosomal recessive inheritance, Bone-marrow foam cells, Cherry red spot of the macula, Constipation, Decreased circulating high-density lipoprotein levels, Diffuse reticular or finely nodular infiltrations, Dyspnea, Failure to thrive, Feeding difficulties in infancy, Foam cells with lamellar inclusion bodies, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hypertriglyceridemia, Hyporeflexia, Increased circulating low-density lipoprotein levels, Infantile onset, Intellectual disability, Juvenile onset, Lymphadenopathy, Microcytic anemia, Muscle weakness, Osteoporosis, Phenotypic variability, Prolonged neonatal jaundice, Protuberant abdomen, Recurrent respiratory infections, Rigidity, Sea-blue histiocytosis, Short stature, Spasticity, Splenomegaly, Vomiting, Xanthomatosis
U4	GNAL	1.39468481	8.88E-16	G protein	BrainSpLMD|2774;Eurexp|euxassay_009060|dorsal root ganglion, mantle layer, trigeminal V	OMIM|139312;HPO|2774|Autosomal dominant inheritance, Laryngeal dystonia, Limb dystonia, Lingual dystonia, Torticollis
U4	DCLK2	1.019806259	8.88E-16	Serine/threonine kinase	BrainSpLMD|166614;Eurexp|euxassay_009796|associated mesenchyme, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nasal cavity, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613166
U4	C7orf55.LUC7L2	0.811661251	8.88E-16			
U4	TIPARP	0.677572668	8.88E-16	DNA binding protein	BrainSpLMD|25976	OMIM|612480
U4	CANT1	1.98912069	9.99E-16	Enzyme: Hydrolase	BrainSpLMD|124583;Eurexp|euxassay_012330|epidermis, external	OMIM|613165;COSMIC||prostate;HPO|124583|Abnormality of the eyelashes, Abnormality of the metaphysis, Accelerated skeletal maturation, Advanced ossification of carpal bones, Advanced tarsal ossification, Anteverted nares, Aplasia/Hypoplasia of the abdominal wall musculature, Autosomal recessive inheritance, Bell-shaped thorax, Bifid distal phalanx of the thumb, Blue sclerae, Brachydactyly, Broad femoral neck, Broad first metatarsal, Camptodactyly of finger, Clinodactyly of the 5th finger, Congenital glaucoma, Coxa valga, Coxa vara, Depressed nasal bridge, Disproportionate short-limb short stature, Elbow dislocation, Flat acetabular roof, Flattened epiphysis, Generalized hypotonia, Genu recurvatum, Genu varum, Glaucoma, Hyperlordosis, Hypotrichosis, Intellectual disability, Joint hyperflexibility, Joint laxity, Kyphosis, Low-set, posteriorly rotated ears, Malar flattening, Medial deviation of the foot, Metaphyseal widening, Microretrognathia, Midface retrusion, Motor delay, Myopia, Narrow chest, Narrow mouth, Obesity, Osteoarthritis, Osteoporosis, Partial duplication of the distal phalanx of the hallux, Patellar dislocation, Pes planus, Phalangeal dislocation, Platyspondyly, Proptosis, Proximal fibular overgrowth, Radioulnar dislocation, Radioulnar synostosis, Round face, Sandal gap, Scoliosis, Severe short stature, Short 1st metacarpal, Short femoral neck, Short metatarsal, Short neck, Short nose, Small hand, Talipes equinovarus, Variable expressivity, Ventricular septal defect, Waddling gait
U4	RNU6.722P	1.531896273	9.99E-16			
U4	DTX1	0.990499361	9.99E-16	Transcription regulatory protein	BrainSpLMD|1840;BrainSpMouseDev|14133	OMIM|602582
U4	YTHDC1	0.793508163	9.99E-16	RNA binding protein	BrainSpLMD|91746	OMIM|617283
U4	PDCD11	0.766007503	9.99E-16	Transcription regulatory protein	BrainSpLMD|22984;Eurexp|euxassay_005987|thymus primordium	OMIM|612333
U4	OSBPL2	0.610117472	9.99E-16	Transport/cargo protein	BrainSpLMD|9885	OMIM|606731;HPO|9885|Autosomal dominant inheritance, Phenotypic variability, Sensorineural hearing impairment, Tinnitus
U4	ZNF263	0.483022982	9.99E-16	Transcription factor	BrainSpLMD|10127;BrainSpMouseDev|49961	OMIM|604191
U4	HSPA9	0.384818174	9.99E-16	Chaperone	BrainSpLMD|3313	OMIM|600548;HPO|3313|Agenesis of corpus callosum, Atopic dermatitis, Autosomal dominant inheritance, Autosomal recessive inheritance, Brachycephaly, Coronal cleft vertebrae, Dysplasia of the femoral head, Epiphyseal dysplasia, High palate, Highly arched eyebrow, Hypodontia, Midface retrusion, Oligohydramnios, Patent foramen ovale, Recurrent urinary tract infections, Renal hypoplasia, Severe short stature, Short neck, Short nose, Sideroblastic anemia, Sparse hair
U4	XKR7	1.895488256	1.11E-15	Integral membrane protein		
U4	ADAT1	0.648049347	1.11E-15	Enzyme: Deaminase	BrainSpLMD|23536	OMIM|604230
U4	TNPO3	0.436814299	1.11E-15	Nuclear receptor	BrainSpLMD|23534	OMIM|610032;HPO|23534|Abnormality of lipid metabolism, Abnormality of the intrahepatic bile duct, Abnormality of the thyroid gland, Antinuclear antibody positivity, Biliary cirrhosis, Cirrhosis, Conjugated hyperbilirubinemia, Dermatographic urticaria, Elevated alkaline phosphatase, Hepatic failure, Hepatic fibrosis, Hepatocellular carcinoma, Hyperpigmentation of the skin, Increased IgM level, Jaundice, Onychomycosis, Orthostatic hypotension, Portal hypertension, Pruritus
U4	RABIF	0.909995011	1.22E-15	Guanine nucleotide exchange factor	BrainSpLMD|5877	OMIM|603417
U4	HMGN4	0.669018207	1.22E-15	Transcription regulatory protein	BrainSpLMD|10473	
U4	PPIAP29	0.311219172	1.22E-15			
U4	ODC1	0.300228915	1.22E-15	Enzyme: Decarboxylase	BrainSpLMD|4953	OMIM|165640
U4	RP11.798L4.1	2.403697446	1.33E-15			
U4	CCT2	0.567255532	1.33E-15	Chaperone	BrainSpLMD|10576	OMIM|605139
U4	WWTR1	0.686900609	1.44E-15	Transcription regulatory protein	BrainSpLMD|25937;Eurexp|euxassay_000592|limb, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|61234	OMIM|607392;COSMIC||epithelioid haemangioendothelioma
U4	RPL5P17	0.494240184	1.44E-15			
U4	DNAH10	0.999207121	1.55E-15	Cytoskeletal protein	BrainSpLMD|196385	SFARI||Autism, No category;OMIM|605884
U4	TCF12	0.594506831	1.55E-15	Transcription factor	BrainSpLMD|6938;BrainSpMouseDev|21167	OMIM|600480;COSMIC||extraskeletal myxoid chondrosarcoma;HPO|6938|Autosomal dominant inheritance, Brachycephaly, Broad forehead, Craniosynostosis, Facial asymmetry, Frontal bossing, Hearing impairment, Increased intracranial pressure, Plagiocephaly, Proptosis, Strabismus, Underdeveloped supraorbital ridges, Visual field defect
U4	RIOK1	0.419656273	1.55E-15	Unclassified	BrainSpLMD|83732	OMIM|617753
U4	RBM10	1.074188818	1.67E-15	RNA binding protein	BrainSpLMD|8241	OMIM|300080;COSMIC||lung adenocarcinoma, TARP syndrome;HPO|8241|Abnormality of the corpus callosum, Anteverted nares, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cleft palate, Clinodactyly, Cutaneous syndactyly, Deep palmar crease, Failure to thrive, Generalized hypotonia, Global developmental delay, Glossoptosis, High palate, Horseshoe kidney, Hydronephrosis, Hypoplasia of the radius, Intrauterine growth retardation, Large fontanelles, Low-set ears, Micrognathia, Microtia, Posteriorly rotated ears, Prominent antihelix, Short palpebral fissure, Single transverse palmar crease, Talipes equinovarus, Underdeveloped supraorbital ridges, Wide nasal bridge, X-linked inheritance, X-linked recessive inheritance
U4	HARS	0.377397693	1.67E-15	Enzyme: Ligase	BrainSpLMD|3035;Eurexp|euxassay_005327|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|142810;HPO|3035|Abnormal electroretinogram, Abnormality of cochlea, Absent Achilles reflex, Astigmatism, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Delayed gross motor development, Distal sensory impairment, Hammertoe, Hearing impairment, Hemianopia, High-grade hypermetropia, Horizontal nystagmus, Iris hypopigmentation, Nyctalopia, Optic disc pallor, Pes cavus, Photophobia, Scotoma, Sensorineural hearing impairment, Steppage gait, Truncal ataxia, Variable expressivity, Vestibular hypofunction, Visual impairment, Visual loss
U4	SNRK	0.338597598	1.67E-15	Serine/threonine kinase	BrainSpLMD|54861	OMIM|612760
U4	FGF2	1.373328119	1.78E-15	Growth factor	BrainSpLMD|2247;BrainSpMouseDev|13950	OMIM|134920
U4	RP11.244O19.1	1.06045008	1.78E-15			
U4	TASP1	0.494717096	1.78E-15	Protease	BrainSpLMD|55617	OMIM|608270
U4	ZNF652	1.834193356	1.89E-15	DNA binding protein	BrainSpLMD|22834	OMIM|613907
U4	HDAC4	1.042692366	1.89E-15	Transcription regulatory protein	BrainSpLMD|9759;Eurexp|euxassay_006864|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, thymus primordium, thyroid, trigeminal V, vagus X, vibrissa	SFARI||Autism, No category;OMIM|605314;HPO|9759|Anteverted nares, Bilateral single transverse palmar creases, Brachydactyly, Broad columella, Clinodactyly of the 5th finger, Deeply set eye, Depressed nasal bridge, Downturned corners of mouth, Eczema, Finger syndactyly, Frontal bossing, Global developmental delay, Highly arched eyebrow, Intellectual disability, Joint hyperflexibility, Microcephaly, Midface retrusion, Muscular hypotonia, Obesity, Round face, Seizures, Short foot, Short metacarpal, Short palm, Short stature, Small hand, Sparse and thin eyebrow, Sparse scalp hair, Supernumerary nipple, Thin vermilion border, Toe syndactyly, Umbilical hernia, Underdeveloped nasal alae, Upslanted palpebral fissure, Wide intermamillary distance
U4	PPID	0.713858353	1.89E-15	Enzyme: Isomerase	BrainSpLMD|5481;Eurexp|euxassay_005718|embryo	OMIM|601753
U4	CNOT10	0.706226434	2.00E-15	Unclassified	BrainSpLMD|25904	
U4	SNORD116.21	1.848888435	2.11E-15			
U4	SSU72	1.765155712	2.11E-15	Unclassified	BrainSpLMD|29101	OMIM|617680
U4	MYADM	1.083636024	2.11E-15	Unclassified	BrainSpLMD|91663;Eurexp|euxassay_004288|femur, footplate, forelimb, hindlimb, mesenchyme, tail	OMIM|609959
U4	RP11.674N23.4	0.695743554	2.11E-15			
U4	SUCLG1	0.597480714	2.11E-15	Enzyme: Ligase	BrainSpLMD|8802	OMIM|611224;HPO|8802|Abnormality of the skin, Ataxia, Autosomal recessive inheritance, Cerebral atrophy, Encephalopathy, Failure to thrive, Feeding difficulties, Global developmental delay, Growth delay, Hyperhidrosis, Hypoglycemia, Hypophosphatemia, Infantile onset, Intellectual disability, severe, Intermittent hyperpnea at rest, Lactic acidosis, Methylmalonic aciduria, Muscular hypotonia, Phenotypic variability, Poor motor coordination, Renal aminoaciduria, Respiratory failure, Seizures, Skeletal muscle atrophy, Unsteady gait
U4	SURF4	1.214636717	2.22E-15	Membrane transport protein		OMIM|185660
U4	FAM104A	0.991262552	2.33E-15	Unclassified	BrainSpLMD|84923	
U4	LCORL	0.258961497	2.33E-15	Transcription factor	BrainSpLMD|254251	OMIM|611799
U4	FST	1.454460983	2.44E-15	Growth factor	BrainSpLMD|10468;Eurexp|euxassay_010196|cochlea, cornea, diaphragm, footplate, handplate, incisor, lens, loop, mantle layer, marginal layer, molar, naris, nasal cavity, rest of mesenchyme, skeletal muscle, stomach, vertebral axis muscle system	OMIM|136470
U4	ILF2	0.732543378	2.44E-15	Transcription factor	BrainSpLMD|3608;Eurexp|euxassay_003141|cervical, cervico-thoracic, chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, submandibular gland primordium, thoracic, trigeminal V, vestibulocochlear VIII, vibrissa	SFARI||Autism, 2 - Strong candidate;OMIM|603181
U4	TMOD3	0.682731047	2.44E-15	Cytoskeletal associated protein	BrainSpLMD|29766;Eurexp|euxassay_005515|clavicle, mandible, maxilla, orbito-sphenoid, rib	OMIM|605112
U4	SAP30BP	0.609489173	2.44E-15	Transcription regulatory protein	BrainSpLMD|29115;Eurexp|euxassay_003056|submandibular gland primordium	OMIM|610218
U4	TMEM115	2.029751115	2.78E-15	Unclassified	BrainSpLMD|11070	OMIM|607069
U4	MED27	0.85699997	3.00E-15	Transcription regulatory protein	BrainSpLMD|9442	OMIM|605044
U4	GALNT1	0.595338223	3.00E-15	Enzyme: Galactosyltransferase	BrainSpLMD|2589;Eurexp|euxassay_004959|4th ventricle, clavicle, incisor, liver, lung, mandible, maxilla, metanephros, orbito-sphenoid, palatal shelf, retina, thymus primordium, trachea, ventricular layer	OMIM|602273
U4	AKAP13	1.164883864	3.11E-15	Guanine nucleotide exchange factor	BrainSpLMD|11214	OMIM|604686
U4	GNB1	0.403466485	3.11E-15	G protein	BrainSpLMD|2782	OMIM|139380;HPO|2782|Acute lymphoblastic leukemia, Autosomal dominant inheritance, EEG abnormality, Failure to thrive, Generalized hypotonia, Global developmental delay, Impaired smooth pursuit, Infantile onset, Intellectual disability, Limb hypertonia, Nystagmus, Polygenic inheritance, Seizures, Strabismus
U4	SF3A1	0.984814268	3.22E-15	RNA binding protein	BrainSpLMD|10291	OMIM|605595
U4	ZDBF2	0.973562086	3.22E-15	Unclassified	Eurexp|euxassay_011111|diaphragm, footplate, handplate, mantle layer, paraxial mesenchyme, pituitary, rest of mesenchyme, skeletal muscle, vertebral axis muscle system	OMIM|617059
U4	GOLGA4	0.289163189	3.22E-15	Transport/cargo protein	BrainSpLMD|2803	OMIM|602509
U4	DDX27	0.891691779	3.33E-15	RNA helicase	BrainSpLMD|55661	OMIM|616621
U4	ZNF532	0.649788724	3.33E-15	Transcription factor	BrainSpLMD|55205	
U4	AC093642.3	1.648190851	3.44E-15			
U4	TAF5L	1.497259883	3.44E-15	Transcription factor	BrainSpLMD|27097	
U4	RP11.212F11.1	0.893206321	3.44E-15			
U4	ARHGEF26.AS1	2.049104607	3.66E-15			
U4	RP11.142J21.2	1.642999149	3.89E-15			
U4	METTL4	0.332031656	4.00E-15	Enzyme: Methyltransferase	BrainSpLMD|64863	
U4	SP3	0.266279585	4.11E-15	Transcription factor	BrainSpLMD|6670;BrainSpMouseDev|20449	OMIM|601804
U4	CYFIP1	0.625163199	4.22E-15	Unclassified	BrainSpLMD|23191;Eurexp|euxassay_000633|incisor	SFARI||Autism, No category;OMIM|606322
U4	TANC2	0.368960235	4.22E-15	Unclassified		SFARI||Autism, 4 - Minimal evidence;OMIM|615047
U4	SH3RF1	0.264044015	4.44E-15	Unclassified	BrainSpLMD|57630;Eurexp|euxassay_016453|mantle layer	
U4	CLPB	2.260520442	4.55E-15	ATPase	BrainSpLMD|81570;Eurexp|euxassay_006929|cervical, cervico-thoracic, proventricular region, thoracic	OMIM|616254;HPO|81570|Abnormal pyramidal signs, Abnormality of extrapyramidal motor function, Autosomal recessive inheritance, Cataract, Cerebellar atrophy, Cerebral atrophy, Congenital onset, Feeding difficulties, Global developmental delay, Growth delay, Intellectual disability, Microcephaly, Muscular hypotonia, Neonatal hypotonia, Neutropenia, Phenotypic variability, Progressive, Spasticity
U4	KCNH8	0.887783853	4.55E-15	Voltage gated channel	BrainSpLMD|131096	OMIM|608260
U4	RP11.254B13.1	0.585381165	4.66E-15			
U4	ZNF317	0.366904663	4.88E-15	Transcription regulatory protein	BrainSpLMD|57693	OMIM|613864
U4	CC2D1B	1.297565297	5.00E-15	Unclassified	BrainSpLMD|200014;Eurexp|euxassay_009319|facial VII, glossopharyngeal IX, trigeminal V, vagus X	
U4	GEMIN4	1.107524546	5.00E-15	Unclassified	BrainSpLMD|50628	OMIM|606969
U4	TBCEL	0.607799959	5.22E-15	Cytoskeletal associated protein	BrainSpLMD|219899	OMIM|610451
U4	SATB1	0.280819634	5.33E-15	Transcription factor	BrainSpLMD|6304;Eurexp|euxassay_018001|cervical, cervico-thoracic, dorsal root ganglion, epidermis, facial VII, glossopharyngeal IX, marginal layer, neural retina, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|19993	OMIM|602075
U4	CEBPG	0.733694619	5.55E-15	Transcription regulatory protein	BrainSpLMD|1054;BrainSpMouseDev|12396	OMIM|138972
U4	DNTTIP1	1.311515343	6.00E-15	DNA binding protein	BrainSpLMD|116092	OMIM|611388
U4	TRIO	0.970923608	6.00E-15	Guanine nucleotide exchange factor	BrainSpLMD|7204;Eurexp|euxassay_013122|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|601893;HPO|7204|2-3 toe syndactyly, Aggressive behavior, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Brachydactyly, Clinodactyly, Delayed speech and language development, Dental crowding, Downslanted palpebral fissures, High forehead, High palate, Hypodontia, Macrotia, Microcephaly, Micrognathia, Motor delay, Obsessive-compulsive behavior, Phenotypic variability, Poor speech, Short nose, Synophrys, Tapered finger, Thick eyebrow, Thick vermilion border, Upslanted palpebral fissure
U4	SP9	0.867591982	6.33E-15		BrainSpLMD|100131390;BrainSpMouseDev|120188	
U4	ZNF398	0.332849089	6.33E-15	Transcription regulatory protein	BrainSpLMD|57541	
U4	HERC2P2	0.977337655	6.66E-15	-		
U4	HSP90AB1	1.407088062	7.11E-15	Chaperone	BrainSpLMD|3326	OMIM|140572;COSMIC||NHL
U4	MAD2L1BP	0.786645259	7.22E-15	Cell cycle control protein	BrainSpLMD|9587	
U4	PACS2	0.434302214	7.33E-15	Unclassified	BrainSpLMD|23241;Eurexp|euxassay_011397|brain, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, spinal cord, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	OMIM|610423
U4	PDHA1	0.315656244	7.44E-15	Enzyme: Dehydrogenase	BrainSpLMD|5160	OMIM|300502;HPO|5160|Abnormality of eye movement, Agenesis of corpus callosum, Anteverted nares, Apneic episodes precipitated by illness, fatigue, stress, Basal ganglia cysts, Cerebral atrophy, Choreoathetosis, Chronic lactic acidosis, Decreased activity of the pyruvate dehydrogenase complex, Dystonia, Episodic ataxia, Flared nostrils, Frontal bossing, Generalized hypotonia, Global developmental delay, Hyperalaninemia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lethargy, Long philtrum, Microcephaly, Phenotypic variability, Ptosis, Seizures, Severe lactic acidosis, Small for gestational age, Ventriculomegaly, Wide nasal bridge, X-linked dominant inheritance
U4	TUFM	0.47552702	7.55E-15	Translation regulatory protein	BrainSpLMD|7284	OMIM|602389;HPO|7284|Autosomal recessive inheritance, Death in infancy, Developmental regression, Encephalopathy, Hepatomegaly, Hyperammonemia, Increased serum lactate, Infantile onset, Intrauterine growth retardation, Lactic acidosis, Metabolic acidosis, Microcephaly, Neonatal hypotonia, Nystagmus, Opisthotonus, Polymicrogyria, Respiratory failure
U4	EXOSC3	3.359312722	8.33E-15	Ribonuclease	BrainSpLMD|51010	OMIM|606489;HPO|51010|Abnormality of the foot, Absent speech, Autosomal recessive inheritance, Cerebellar atrophy, Cerebellar cyst, Cerebral atrophy, Congenital onset, Feeding difficulties, Flexion contracture, Generalized hypotonia, Global developmental delay, Growth delay, Hip dislocation, Hyperreflexia, Muscular hypotonia of the trunk, Nystagmus, Oculomotor apraxia, Poor head control, Progressive microcephaly, Respiratory insufficiency, Skeletal muscle atrophy, Spasticity, Strabismus, Tongue atrophy, Tongue fasciculations, Variable expressivity
U4	THOC1	0.409688384	8.55E-15	Transcription regulatory protein	BrainSpLMD|9984;Eurexp|euxassay_006725|embryo	OMIM|606930
U4	ARFGAP1	1.526423383	8.66E-15	GTPase activating protein	BrainSpLMD|55738;Eurexp|euxassay_000537|axial skeleton, basioccipital bone, basisphenoid bone, cranium, frontal bone primordium, inner ear, inter-parietal bone primordium, labyrinth, mandible, mesenchyme, optic foramen, orbito-sphenoid, otic capsule, parietal bone	OMIM|608377
U4	MAP2K5	1.566723309	8.77E-15	Dual specificity kinase	BrainSpLMD|5607	OMIM|602520
U4	THYN1	0.525959858	8.77E-15	Unclassified	BrainSpLMD|29087	OMIM|613739
U4	MFSD9	1.092308113	9.33E-15	Unclassified	BrainSpLMD|84804	
U4	PAK1IP1	0.4392972	9.44E-15	Cytoskeletal associated protein	BrainSpLMD|55003;Eurexp|euxassay_000585|chondrocranium, lobe	OMIM|607811
U4	SLC35B2	1.225244633	9.99E-15	Membrane transport protein	BrainSpLMD|347734;Eurexp|euxassay_010411|basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, humerus, mandible, maxilla, orbito-sphenoid, otic capsule, petrous part, rib, submandibular gland primordium, turbinate	OMIM|610788
U4	PDXDC1	0.592201915	1.01E-14	Enzyme: Decarboxylase		OMIM|614244
U4	NHP2L1	0.580702421	1.17E-14			
U4	LLNLR.268E12.1	1.261449573	1.19E-14			
U4	AC004448.5	1.535287315	1.22E-14			
U4	DAPK1	0.391867558	1.37E-14	Serine/threonine kinase	BrainSpLMD|1612	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600831
U4	RP11.768G7.1	0.864450731	1.38E-14			
U4	COQ5	0.545177791	1.43E-14	Unclassified		OMIM|616359
U4	EIF5B	0.481920175	1.43E-14	Translation regulatory protein	BrainSpLMD|9669	OMIM|606086
U4	TLDC1	0.980427262	1.55E-14	Unclassified	BrainSpLMD|57707	
U4	ANKS1A	0.779247803	1.68E-14	Adapter molecule	BrainSpLMD|23294;Eurexp|euxassay_005066|mantle layer, oculomotor III, olfactory, trochlear IV, ventral grey horn, ventricular layer	OMIM|608994
U4	SHROOM2	0.724656814	1.74E-14	Unclassified	BrainSpLMD|357	OMIM|300103
U4	RBM19	0.558644727	1.74E-14	RNA binding protein	BrainSpLMD|9904	OMIM|616444
U4	C4orf46	0.30477569	1.74E-14	Unclassified		OMIM|616210
U4	LRRFIP2	0.562671978	1.75E-14	Unclassified	BrainSpLMD|9209;Eurexp|euxassay_012383|mandible, maxilla, orbito-sphenoid	OMIM|614043
U4	VHL	0.64568474	1.80E-14	Ubiquitin proteasome system protein	BrainSpLMD|7428	OMIM|608537;COSMIC||renal, haemangioma, pheochromocytoma, renal, haemangioma, pheochromocytoma;HPO|7428|Abnormality of the cerebral vasculature, Abnormality of the liver, Abnormality of the retinal vasculature, Aplasia/Hypoplasia of the cerebellum, Arteriovenous malformation, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cafe-au-lait spot, Capillary hemangiomas, Cerebellar hemangioblastoma, Cerebral hemorrhage, Congenital cataract, Congestive heart failure, Elevated urinary norepinephrine, Epididymal cyst, Episodic hypertension, Fatigue, Gait disturbance, Headache, Hemangioma, Hemiplegia/hemiparesis, Hydrocephalus, Hypercalcemia, Hyperhidrosis, Hypertension, Hypertensive retinopathy, Hypotension, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass, Migraine, Multicystic kidney dysplasia, Multiple renal cysts, Nausea and vomiting, Neoplasm, Neoplasm of the pancreas, Neurological speech impairment, Nystagmus, Pancreatic cysts, Papillary cystadenoma of the epididymis, Paraganglioma, Peripheral thrombosis, Phenotypic variability, Pheochromocytoma, Plethora, Polycystic kidney dysplasia, Polycythemia, Positive regitine blocking test, Proteinuria, Pulmonary capillary hemangiomatosis, Renal artery stenosis, Renal cell carcinoma, Retinal capillary hemangioma, Sensorineural hearing impairment, Sensory neuropathy, Spinal hemangioblastoma, Sporadic, Stroke, Tachycardia, Telangiectasia of the skin, Tinnitus, Varicose veins, Vertigo, Visceral angiomatosis, Visual impairment
U4	TRAK1	0.343569859	1.88E-14	Transcription regulatory protein	BrainSpLMD|22906;Eurexp|euxassay_009992|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, submandibular gland primordium, trigeminal V, vagus X, ventricular layer	OMIM|608112
U4	NAV1	0.334783863	1.90E-14	Unclassified	BrainSpLMD|89796;Eurexp|euxassay_015115|Meckel's cartilage, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, inferior, mantle layer, midbrain, molar, neural retina, olfactory, respiratory, spinal cord, stroma, superior, thoracic, trigeminal V, turbinate bones, vagus X, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|611628
U4	PPIEL	0.921151791	1.93E-14			
U4	ST13P4	1.405197306	1.95E-14		BrainSpLMD|145165	
U4	POMGNT2	1.16753725	2.04E-14	Unclassified	BrainSpLMD|84892	OMIM|614828;HPO|84892|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Absent septum pellucidum, Agenesis of corpus callosum, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Autosomal recessive inheritance, Cerebellar hypoplasia, Chorioretinal dysplasia, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Generalized hypotonia, Glaucoma, Global developmental delay, Hydrocephalus, Hypoplasia of penis, Hyporeflexia, Intellectual disability, Lissencephaly, Macrocephaly, Macrogyria, Metatarsus valgus, Microphthalmia, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Optic atrophy, Pachygyria, Polymicrogyria, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Skeletal muscle atrophy, Specific learning disability, Type II lissencephaly, Ventriculomegaly
U4	RAB5B	0.659324043	2.04E-14	GTPase	BrainSpLMD|5869	OMIM|179514
U4	CTD.3099C6.9	0.316866871	2.04E-14			
U4	NAT16	1.468316529	2.05E-14	Unclassified	BrainSpLMD|375607	OMIM|615783
U4	GON4L	0.354841461	2.10E-14	DNA binding protein	BrainSpLMD|54856	OMIM|610393
U4	AP000487.5	1.602859902	2.20E-14			
U4	RP11.395A13.2	2.290854132	2.22E-14			
U4	NACA3P	0.657669081	2.28E-14			
U4	RCHY1	0.445147157	2.29E-14	Ubiquitin proteasome system protein;Enzyme: Ligase	BrainSpLMD|25898	OMIM|607680
U4	ZBTB24	1.144889159	2.30E-14	DNA binding protein		OMIM|614064;HPO|9841|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Anteverted nares, Autosomal recessive inheritance, Cellular immunodeficiency, Chronic bronchitis, Communicating hydrocephalus, Congenital onset, Decreased antibody level in blood, Depressed nasal bridge, Epicanthus, Global developmental delay, Growth delay, High palate, Hypertelorism, Immunodeficiency, Intellectual disability, Low-set ears, Lymphopenia, Macrocephaly, Malabsorption, Micrognathia, Motor delay, Pneumonia, Recurrent respiratory infections, Retrognathia, Round face, Short chin, Short nose, Short stature
U4	RP11.175B9.3	0.264560695	2.33E-14			
U4	IQCG	0.387227292	2.38E-14	Unclassified	BrainSpLMD|84223;Eurexp|euxassay_003706|choroid plexus, lateral recess, olfactory, roof plate, ventricular layer	OMIM|612477
U4	RP11.1017G21.3	1.03642933	2.41E-14			
U4	MOK	1.032717218	2.64E-14	Serine/threonine kinase	BrainSpLMD|5891	OMIM|605762
U4	PBX3	0.652063346	2.71E-14	Transcription factor	BrainSpLMD|5090;Eurexp|euxassay_002571|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, pharyngo-tympanic tube, spinal cord;BrainSpMouseDev|18282	OMIM|176312
U4	ZBTB34	0.896670013	2.79E-14	Transcription regulatory protein	BrainSpLMD|403341;Eurexp|euxassay_013756|olfactory, submandibular gland primordium	OMIM|611692
U4	1-Mar	0.423539754	2.90E-14			
U4	TMEM231	0.685847176	2.96E-14	Unclassified	BrainSpLMD|79583	SFARI||Autism, No category;OMIM|614949;HPO|79583|Absent speech, Aggressive behavior, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autistic behavior, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cataract, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cleft palate, Congenital hepatic fibrosis, Congenital onset, Cryptorchidism, Depressed nasal ridge, Encephalocele, Full cheeks, Global developmental delay, Hypertelorism, Intellectual disability, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Muscular hypotonia, Nephropathy, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Polycystic kidney dysplasia, Polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Ptosis, Renal cyst, Respiratory insufficiency, Retinal dystrophy, Sclerocornea, Self-mutilation, Sloping forehead, Tachypnea, Talipes
U4	ICMT	1.348845739	3.11E-14	Enzyme: Methyltransferase	BrainSpLMD|23463	OMIM|605851
U4	SQSTM1	1.027932461	3.19E-14	Ubiquitin proteasome system protein	BrainSpLMD|8878	OMIM|601530;HPO|8878|Abnormal brain FDG positron emission tomography, Abnormal lower motor neuron morphology, Abnormal pyramidal signs, Abnormality of pelvic girdle bone morphology, Abnormality of the cerebral white matter, Absent Achilles reflex, Aggressive behavior, Amyotrophic lateral sclerosis, Anxiety, Apathy, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone pain, Brain stem compression, Bulbar palsy, Cerebral cortical atrophy, Collectionism, Cranial nerve paralysis, Depressivity, Disinhibition, Dysarthria, Dyscalculia, Dysdiadochokinesis, Dysgraphia, Dyslexia, Dysmetria, Dysphagia, Dysphasia, Dyspnea, Dystonia, EEG with continuous slow activity, EMG: myopathic abnormalities, EMG: myotonic discharges, EMG: positive sharp waves, Echolalia, Elevated alkaline phosphatase, Elevated serum creatine phosphokinase, Emotional blunting, Emotional lability, Facial palsy, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Fatty replacement of skeletal muscle, Foot dorsiflexor weakness, Fractures of the long bones, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait ataxia, Generalized muscle weakness, Heterogeneous, Hip flexor weakness, Hydroxyprolinuria, Hyperorality, Hyperreflexia, Hyporeflexia, Hypothyroidism, Inappropriate behavior, Increased susceptibility to fractures, Increased variability in muscle fiber diameter, Irritability, Lack of insight, Language impairment, Limb ataxia, Limited shoulder movement, Limited wrist extension, Long-tract signs, Loss of speech, Memory impairment, Mental deterioration, Mildly elevated creatine phosphokinase, Muscle cramps, Muscle fiber inclusion bodies, Mutism, Neurodegeneration, Nystagmus, Oculomotor apraxia, Osteolysis, Osteosarcoma, Pain, Paralysis, Paraparesis, Patchy osteosclerosis, Perseveration, Personality changes, Phenotypic variability, Poor speech, Premature loss of teeth, Progressive, Respiratory failure, Restlessness, Restrictive behavior, Rimmed vacuoles, Scapular winging, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Spasticity, Steppage gait, Stereotypy, Tetraparesis, Thickened nuchal skin fold, Tibialis muscle weakness, Tremor, Variable expressivity, Vertebral compression fractures, Vertical supranuclear gaze palsy, Xerostomia
U4	IL1RAPL1	0.920070822	3.56E-14	Cytokine receptor	BrainSpLMD|11141;Eurexp|euxassay_016091|dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, lung, mantle layer, neural retina, trigeminal V, ventral grey horn	SFARI||Autism, 4 - Minimal evidence;OMIM|300206;HPO|11141|Autism, Dental crowding, Hyperactivity, Hypertelorism, Intellectual disability, Intellectual disability, moderate, Joint hypermobility, Mandibular prognathia, Open mouth, Short nose, Synophrys, Tented upper lip vermilion, Uplifted earlobe, Upslanted palpebral fissure, X-linked recessive inheritance
U4	FLOT1	0.508475005	3.59E-14	Unclassified	BrainSpLMD|10211;Eurexp|euxassay_000221|dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, olfactory, respiratory, trigeminal V, vagus X, ventral grey horn	OMIM|606998
U4	TMEM189	1.367782827	3.62E-14	Ubiquitin proteasome system protein	BrainSpLMD|387521	OMIM|610994
U4	STAG3L4	0.569700407	3.63E-14	Unclassified	BrainSpLMD|64940	
U4	CCDC91	0.785944717	3.70E-14	Unclassified	BrainSpLMD|55297;Eurexp|euxassay_012418|vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|617366
U4	RPL36AP15	1.804330622	3.83E-14			
U4	KDM4C	0.778289622	3.83E-14	Transcription regulatory protein	BrainSpLMD|23081;Eurexp|euxassay_008129|rib	OMIM|605469
U4	ZNF786	1.786331011	3.85E-14	DNA binding protein	BrainSpLMD|136051	
U4	CILP	1.271590232	3.92E-14	Extracellular matrix protein	BrainSpLMD|8483;Eurexp|euxassay_004028|diaphragm, lip, mesenchyme, rib, tongue	OMIM|603489
U4	CES2	1.79959322	3.96E-14	Enzyme: Esterase	BrainSpLMD|8824;Eurexp|euxassay_013643|dorsal root ganglion, facial VII, glossopharyngeal IX, left, lobe, naris, right, trigeminal V, vagus X	OMIM|605278
U4	TSPAN3	0.320929304	4.02E-14	Integral membrane protein	BrainSpLMD|10099;Eurexp|euxassay_011791|axial skeleton, basioccipital bone, basisphenoid bone, naris, nasal septum, orbito-sphenoid, otic capsule, petrous part, rib, turbinate bones	OMIM|613134
U4	PSMC3	0.839085239	4.19E-14	Ubiquitin proteasome system protein	BrainSpLMD|5702	OMIM|186852
U4	NQO2	0.964137075	4.25E-14	Enzyme: Oxidoreductase	BrainSpLMD|4835;Eurexp|euxassay_018917|adenohypophysis	OMIM|160998
U4	TCOF1	0.810163171	4.39E-14	Transcription regulatory protein	BrainSpLMD|6949;Eurexp|euxassay_012028|Meckel's cartilage, axial skeleton, humerus, radius, rib, scapula, ulna	OMIM|606847;HPO|6949|Abnormality of bone mineral density, Abnormality of the pinna, Absent eyelashes, Autosomal dominant inheritance, Cleft eyelid, Conductive hearing impairment, Downslanted palpebral fissures, Frontal bossing, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Iris coloboma, Low anterior hairline, Malar flattening, Micrognathia, Microtia, Midface retrusion, Narrow internal auditory canal, Open bite, Reduced number of teeth, Retrognathia, Short face, Skeletal dysplasia, Sparse lower eyelashes, Strabismus, Visual impairment, Wide nasal bridge
U4	RALA	0.989373627	4.49E-14	GTPase	BrainSpLMD|5898;Eurexp|euxassay_012473|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, trigeminal V, vagus X	OMIM|179550
U4	PATZ1	0.421199259	4.64E-14	Transcription regulatory protein	BrainSpLMD|23598;Eurexp|euxassay_019522|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, metanephros, midgut, molar, oesophagus, olfactory, pancreas, pituitary, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ;BrainSpMouseDev|35501	OMIM|605165;COSMIC||Ewing sarcoma
U4	ZFAND6	0.256902027	4.66E-14	Adapter molecule	BrainSpLMD|54469	OMIM|610183
U4	TSR2	0.885244296	4.88E-14	Unclassified	BrainSpLMD|90121	OMIM|300945;HPO|90121|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Cleft palate, Conductive hearing impairment, Delayed puberty, Downslanted palpebral fissures, Fatigue, Macrocytic anemia, Micrognathia, Microtia, Midface retrusion, Migraine, Pallor, X-linked recessive inheritance
U4	BZW1P2	1.375459499	5.23E-14			
U4	ISY1	1.011286372	5.36E-14	Unclassified	BrainSpLMD|57461	OMIM|612764
U4	MTHFD1	0.510060713	5.54E-14	Enzyme: Dehydrogenase	BrainSpLMD|4522;Eurexp|euxassay_004845|axial muscle, fundus, incisor, left, left lung, lumen, molar, oesophagus, pancreas, right, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|172460
U4	KIF26B	0.344656113	5.64E-14	Unclassified	BrainSpLMD|55083;Eurexp|euxassay_016415|dorsal root ganglion, extrinsic ocular muscle, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, metanephros, nasal septum, penis, trigeminal V, ventral grey horn	OMIM|614026
U4	CAST	0.6348778	5.85E-14	Protease inhibitor	BrainSpLMD|831	OMIM|114090;HPO|831|Angular cheilitis, Autosomal recessive inheritance, Epidermal acanthosis, Leukonychia, Palmoplantar keratoderma, Scaling skin
U4	TNFAIP1	0.358437924	5.91E-14	Unclassified	BrainSpLMD|7126;Eurexp|euxassay_011960|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones, valve, vault of skull	OMIM|191161
U4	PXDNL	1.882665497	5.94E-14	Enzyme: Peroxidase	BrainSpLMD|137902	OMIM|615904
U4	TSSC4	1.903747571	6.06E-14	Unclassified	BrainSpLMD|10078	OMIM|603852
U4	SAMD4B	0.811556162	6.25E-14	Unclassified	BrainSpLMD|55095	
U4	LDLR	0.386763903	6.27E-14	Cell surface receptor	BrainSpLMD|3949;Eurexp|euxassay_010458|adrenal gland, cervical, cervico-thoracic, clavicle, hindgut, incisor, mandible, maxilla, metanephros, midgut, orbito-sphenoid, otic capsule, rib, submandibular gland primordium, thoracic, turbinate, ventral grey horn	OMIM|606945;HPO|3949|Abnormality of internal carotid artery, Angina pectoris, Aortic atherosclerosis, Autosomal dominant inheritance, Cerebral artery atherosclerosis, Corneal arcus, Coronary atherosclerosis, Dyspnea, Heart murmur, Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia, Hypertension, Increased circulating low-density lipoprotein levels, Left ventricular failure, Myocardial infarction, Myocardial steatosis, Peripheral arterial stenosis, Precocious atherosclerosis, Premature arteriosclerosis, Premature coronary artery disease, Renal artery stenosis, Sudden cardiac death, Xanthelasma
U4	STOX2	0.397791983	6.37E-14	Unclassified	Eurexp|euxassay_008526|ventricular layer	OMIM|617359
U4	SEC13	1.143564933	6.62E-14	Transport/cargo protein	BrainSpLMD|6396;Eurexp|euxassay_004833|cranium, mandible, maxilla	OMIM|600152
U4	SNORA48	0.572813606	6.79E-14			
U4	METAP2	0.389735221	6.82E-14	Translation regulatory protein	BrainSpLMD|10988	OMIM|601870
U4	NCOA1	0.311201425	7.31E-14	Enzyme: Transferase	BrainSpLMD|8648;Eurexp|euxassay_005512|diaphragm, dorsal grey horn, olfactory, vertebral axis muscle system;BrainSpMouseDev|17744	OMIM|602691;COSMIC||alveolar rhabdomyosarcoma
U4	AC012513.4	1.780920583	7.80E-14			
U4	PDE4B	0.506531677	8.19E-14	Enzyme: Phosphodiesterase	BrainSpLMD|5142;Eurexp|euxassay_018064|cochlea, mantle layer, utricle	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600127
U4	CPEB3	0.296237819	8.19E-14	Unclassified	BrainSpLMD|22849	OMIM|610606
U4	PURB	0.431859563	8.44E-14	Transcription regulatory protein	BrainSpLMD|5814	OMIM|608887
U4	ATP6V0E1P1	2.031253915	8.54E-14			
U4	SRP68	0.687747614	8.69E-14	RNA binding protein	BrainSpLMD|6730	OMIM|604858
U4	RANBP2	0.341631912	8.87E-14	Transport/cargo protein	BrainSpLMD|5903;Eurexp|euxassay_016512|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|601181;COSMIC||inflammatory myofibroblastic tumour
U4	RP11.588P7.2	0.285575093	9.10E-14			
U4	ZCCHC7	0.63688945	9.20E-14	DNA binding protein	BrainSpLMD|84186;Eurexp|euxassay_017848|mantle layer	
U4	NRIP2	1.525343346	9.25E-14	Unclassified	BrainSpLMD|83714;BrainSpMouseDev|37806	
U4	HECTD4	0.495372898	9.56E-14	Unclassified	BrainSpLMD|283450;Eurexp|euxassay_010071|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence
U4	SLC4A1AP	0.576166478	9.88E-14	Adapter molecule	BrainSpLMD|22950	OMIM|602655
U4	TAF1C	1.691034474	9.90E-14	Transcription factor	BrainSpLMD|9013	SFARI||Autism, No category;OMIM|604905
U4	PEAK1	0.433453472	1.00E-13	Tyrosine kinase		OMIM|614248
U4	RP4.773N10.4	1.346678589	1.02E-13			
U4	PSD2	0.8097996	1.03E-13	Unclassified	BrainSpLMD|84249	
U4	IP6K2	0.38675515	1.07E-13	Lipid Kinase	BrainSpLMD|51447	OMIM|606992
U4	YOD1	0.2774526	1.11E-13	DNA binding protein		OMIM|612023
U4	ERICH3	1.326191877	1.14E-13	Unclassified	BrainSpLMD|127254	
U4	EIF4G1	0.546521803	1.14E-13	Translation regulatory protein	BrainSpLMD|1981	OMIM|600495
U4	COL6A1	1.516119773	1.18E-13	Extracellular matrix protein	BrainSpLMD|1291;BrainSpMouseDev|12616	OMIM|120220;HPO|1291|Abnormality of the cardiovascular system, Abnormality of the palate, Adducted thumb, Ankle contracture, Autosomal dominant inheritance, Autosomal recessive inheritance, Cachexia, Camptodactyly of finger, Congenital muscular dystrophy, Congenital muscular torticollis, Decreased fetal movement, Diaphragmatic weakness, Distal muscle weakness, EMG abnormality, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated serum creatine phosphokinase, Esotropia, Facial palsy, Failure to thrive, Feeding difficulties in infancy, Flexion contracture, Follicular hyperkeratosis, Frequent falls, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, High palate, Hip dislocation, Hyperextensibility at wrists, Hyperhidrosis, Increased endomysial connective tissue, Increased laxity of ankles, Increased laxity of fingers, Increased variability in muscle fiber diameter, Infantile onset, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphosis, Limb-girdle muscle weakness, Long toe, Micrognathia, Mildly elevated creatine phosphokinase, Motor delay, Muscle fiber necrosis, Myopathy, Neonatal hypotonia, Nocturnal hypoventilation, Pes valgus, Progressive, Protruding ear, Proximal muscle weakness, Recurrent lower respiratory tract infections, Respiratory failure, Respiratory insufficiency due to muscle weakness, Round face, Scoliosis, Short neck, Skeletal muscle atrophy, Slender build, Slender finger, Slow progression, Spinal rigidity, Talipes equinovarus, Torticollis, Type 1 muscle fiber predominance, Variable expressivity
U4	LRP1	1.718621915	1.23E-13	Cell surface receptor	BrainSpLMD|4035;Eurexp|euxassay_011128|mesenchyme, ventricular layer;BrainSpMouseDev|16741	OMIM|107770;HPO|4035|Autosomal recessive inheritance
U4	RPS10	1.167007582	1.23E-13	Ribosomal subunit	Eurexp|euxassay_005918|embryo	OMIM|603632;HPO|6204|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Anemia, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Growth delay, Macrocytic anemia, Migraine, Pallor, Vitamin D deficiency
U4	RPL6P27	1.009545377	1.26E-13			
U4	GABBR1	0.343350635	1.27E-13	G protein coupled receptor	BrainSpLMD|2550;Eurexp|euxassay_009799|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|33684	OMIM|603540
U4	MPP5	0.341977953	1.42E-13	Unclassified	BrainSpLMD|64398	OMIM|606958
U4	RP11.74E24.2	1.755175972	1.44E-13			
U4	KCNJ10	1.482650641	1.44E-13	Inward rectifier channel	BrainSpLMD|3766;Eurexp|euxassay_011023|ventricular layer	SFARI||Autism, 3 - Suggestive evidence;OMIM|602208;HPO|3766|Abnormality of metabolism/homeostasis, Abnormality of the mitochondrion, Abnormality of the renal tubule, Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cochlear malformation, Compensated hypothyroidism, Congenital sensorineural hearing impairment, Delayed speech and language development, Dysdiadochokinesis, Enlarged vestibular aqueduct, Enuresis, Failure to thrive, Generalized hypotonia, Global developmental delay, Goiter, Hyperaldosteronism, Hypocalciuria, Hypokalemia, Hypokalemic metabolic alkalosis, Hypomagnesemia, Hypoplasia of the cochlea, Hypothyroidism, Increased circulating renin level, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intention tremor, Muscular hypotonia, Polydipsia, Polyuria, Renal potassium wasting, Renal salt wasting, Renal sodium wasting, Salt craving, Seizures, Sensorineural hearing impairment, Thyroid carcinoma, Vestibular dysfunction
U4	FKBP2	1.929496232	1.45E-13	Enzyme: Isomerase	BrainSpLMD|2286	OMIM|186946
U4	MDGA2	0.698487854	1.50E-13	Unclassified	BrainSpLMD|161357	SFARI||Autism, 4 - Minimal evidence;OMIM|611128
U4	RP11.676M6.1	1.551854984	1.52E-13			
U4	CTNNBL1	0.273673911	1.68E-13	Unclassified	BrainSpLMD|56259	OMIM|611537
U4	MSL1	0.267555609	1.68E-13	Transcription factor		OMIM|614801
U4	HIRA	1.469794455	1.78E-13	Transcription regulatory protein	BrainSpLMD|7290	OMIM|600237;HPO|7290|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
U4	LMBR1L	0.546805775	1.82E-13	Cell surface receptor	BrainSpLMD|55716	OMIM|610007
U4	RQCD1	1.219072494	1.84E-13			
U4	KIAA1045	0.677221043	1.85E-13			
U4	PSEN1	0.274408306	1.85E-13	Integral membrane protein	BrainSpLMD|5663;Eurexp|euxassay_018240|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, mantle layer, midgut, neural retina, pharyngo-tympanic tube, rectum, submandibular gland primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII;BrainSpMouseDev|18927	OMIM|104311;HPO|5663|Abnormal brain FDG positron emission tomography, Abnormality of extrapyramidal motor function, Abnormality of the cerebral white matter, Acne inversa, Adult onset, Aggressive behavior, Alexia, Alzheimer disease, Amyotrophic lateral sclerosis, Anxiety, Apathy, Apraxia, Autosomal dominant inheritance, Babinski sign, Cerebral cortical atrophy, Chronic furunculosis, Collectionism, Congestive heart failure, Dementia, Depressivity, Dilated cardiomyopathy, Disinhibition, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphagia, Dysphasia, Dystonia, EEG with continuous slow activity, Echolalia, Emotional blunting, Frontal lobe dementia, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait disturbance, Gliosis, Grammar-specific speech disorder, Heterogeneous, Hyperorality, Inappropriate behavior, Inappropriate laughter, Inappropriate sexual behavior, Irritability, Lack of insight, Language impairment, Loss of speech, Lower limb hyperreflexia, Memory impairment, Myoclonus, Neurofibrillary tangles, Neuronal loss in central nervous system, Parkinsonism, Perifolliculitis, Perseveration, Personality changes, Polyphagia, Poor speech, Primitive reflex, Rapidly progressive, Recurrent cutaneous abscess formation, Restlessness, Restrictive behavior, Seizures, Spastic tetraparesis, Spoken Word Recognition Deficit, Sporadic, Stereotypy, Syncope, Temporal cortical atrophy, Thickened nuchal skin fold
U4	MLX	0.329142447	1.89E-13	Transcription regulatory protein;Transcription factor	BrainSpLMD|6945;BrainSpMouseDev|21189	OMIM|602976;HPO|6945|Abnormal pattern of respiration, Abnormality of the aortic valve, Anemia, Anorexia, Arthritis, Chest pain, Dilatation, Dilatation of the ascending aorta, Fatigue, Fever, Gangrene, Hyperhidrosis, Hypertensive crisis, Hypertrophic cardiomyopathy, Inflammatory abnormality of the eye, Migraine, Muscle weakness, Myalgia, Myocardial infarction, Pulmonary arterial hypertension, Seizures, Skin ulcer, Subcutaneous nodule, Vasculitis, Weight loss
U4	RP11.348P10.2	0.617000281	1.93E-13			
U4	ZNF236	0.393238923	2.04E-13	Transcription regulatory protein	BrainSpLMD|7776	OMIM|604760
U4	SLC35E1	0.660877102	2.06E-13	Membrane transport protein	BrainSpLMD|79939;Eurexp|euxassay_015962|clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, inner ear, mandible, mantle layer, maxilla, orbito-sphenoid, otic capsule, rib, sternum, submandibular gland primordium, trigeminal V, turbinate, vagus X, vault of skull, ventral grey horn, vibrissa	
U4	AEN	0.999342758	2.11E-13	Deoxyribonuclease	BrainSpLMD|64782	OMIM|610177
U4	SIK3.IT1	0.595322472	2.11E-13			
U4	CRYBG3	1.275221395	2.20E-13	Unclassified		
U4	DHX9	0.331149222	2.25E-13	Transcription factor	BrainSpLMD|1660;Eurexp|euxassay_010959|brain, cochlea, epithelium, facial VII, glossopharyngeal IX, incisor, left lung, marginal layer, metanephros, midgut, molar, olfactory, pancreas, pharyngo-tympanic tube, retina, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, utricle, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|603115
U4	SIRT1	0.257232187	2.25E-13	Enzyme: Deacetylase	BrainSpLMD|23411	OMIM|604479
U4	SEMA4D	0.256335075	2.25E-13	Integral membrane protein	BrainSpLMD|10507;BrainSpMouseDev|20117	OMIM|601866
U4	PML	0.868115265	2.26E-13	Transcription regulatory protein	BrainSpLMD|5371;BrainSpMouseDev|18617	OMIM|102578;COSMIC||APL, ALL
U4	TUBB4B	0.328956087	2.31E-13	Structural protein	BrainSpLMD|10383	OMIM|602660
U4	GAR1	1.330055052	2.33E-13	Enzyme: Reductase	BrainSpLMD|54433	OMIM|606468
U4	LINC00635	2.213875252	2.44E-13			
U4	RP11.493K19.3	1.24778134	2.52E-13			
U4	IGSF11	0.521903705	2.54E-13	Adhesion molecule	BrainSpLMD|152404;Eurexp|euxassay_006186|embryo	OMIM|608351
U4	SNHG17	0.777811171	2.56E-13			
U4	RNA5SP122	2.061942843	2.60E-13			
U4	PPIAP2	0.613627632	2.63E-13			
U4	PRPF4B	0.576790182	2.67E-13	Serine/threonine kinase	BrainSpLMD|8899;Eurexp|euxassay_005644|embryo	OMIM|602338
U4	KPNB1	0.303696763	2.70E-13	Transport/cargo protein	BrainSpLMD|3837;Eurexp|euxassay_006809|embryo	OMIM|602738
U4	CCDC47	0.827785982	2.72E-13	Unclassified	BrainSpLMD|57003;Eurexp|euxassay_000833|submandibular gland primordium	
U4	HNMT	0.93204809	2.74E-13	Enzyme: Methyltransferase	BrainSpLMD|3176	OMIM|605238;HPO|3176|Autosomal recessive inheritance, Delayed speech and language development, Global developmental delay, Infantile onset, Intellectual disability, Intellectual disability, severe, Microcephaly
U4	RP3.467L1.6	1.25653531	2.75E-13			
U4	SH3YL1	0.541317457	2.78E-13	Unclassified	BrainSpLMD|26751	OMIM|617314
U4	SCNM1	0.706199015	2.78E-13	Unclassified	BrainSpLMD|79005	OMIM|608095
U4	ACTR1A	0.335605663	2.85E-13	Cytoskeletal protein	BrainSpLMD|10121;Eurexp|euxassay_006567|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605143
U4	CIT	0.57538876	2.88E-13	Serine/threonine kinase	BrainSpLMD|11113;Eurexp|euxassay_014352|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, cervical region, clavicle, femur, fibula, humerus, hyoid bone, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, thyroid, tibia, turbinate bones, vault of skull;BrainSpMouseDev|12488	OMIM|605629;HPO|11113|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Bulbous nose, Cerebellar hypoplasia, Congenital onset, Cortical gyral simplification, Failure to thrive, Global developmental delay, Heterotopia, Hyperreflexia, Hypertelorism, Hypoplasia of the brainstem, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Macrotia, Microcephaly, Pachygyria, Renal agenesis, Short stature, Sloping forehead, Spasticity, Thick vermilion border, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vesicoureteral reflux
U4	PSME1	0.584213325	2.90E-13	Ubiquitin proteasome system protein	BrainSpLMD|5720	OMIM|600654
U4	PRIM2	1.04854776	2.97E-13	RNA polymerase	BrainSpLMD|5558;Eurexp|euxassay_018428|incisor, left, marginal layer, molar, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|176636
U4	UAP1	0.996040258	3.02E-13	Enzyme: Phosphorylase	BrainSpLMD|6675	OMIM|602862
U4	MED28	0.476153061	3.07E-13	Transcription regulatory protein	BrainSpLMD|80306	OMIM|610311
U4	SEC14L1	0.795061895	3.10E-13	Transport/cargo protein	BrainSpLMD|6397;Eurexp|euxassay_013817|lung, marginal layer	OMIM|601504
U4	TRIB1	0.340402909	3.12E-13	Dual specificity kinase	BrainSpLMD|10221;Eurexp|euxassay_010583|cortex, mantle layer, molar, submandibular gland primordium, thymus primordium, thyroid, valve, vibrissa	OMIM|609461
U4	ZCCHC12	1.285934509	3.27E-13	Unclassified	BrainSpLMD|170261;Eurexp|euxassay_006307|anterior abdominal wall, cervical, cervico-thoracic, glossopharyngeal IX, mantle layer, marginal layer, midgut, neural retina, oesophagus, olfactory, pelvic girdle, stomach, thoracic, tongue, trigeminal V, vagus X, ventricular layer	OMIM|300701
U4	FBXL2	0.58453246	3.29E-13	Ubiquitin proteasome system protein	BrainSpLMD|25827;Eurexp|euxassay_015900|dorsal root ganglion, glossopharyngeal IX, trigeminal V	OMIM|605652
U4	DSTYK	0.277725215	3.37E-13	Dual specificity kinase	BrainSpLMD|25778;Eurexp|euxassay_009666|corpus striatum	OMIM|612666;HPO|25778|Autosomal recessive inheritance, Babinski sign, Cognitive impairment, Hyperpigmentation in sun-exposed areas, Hyperreflexia, Lower limb muscle weakness, Microcephaly, Micrognathia, Narrow face, Premature graying of body hair, Retrognathia, Spastic paraplegia, Vitiligo
U4	DGCR14	1.429392718	3.38E-13			
U4	ARPC2	0.572537133	3.42E-13	Cytoskeletal associated protein	BrainSpLMD|10109	OMIM|604224
U4	OTUB2	1.62006126	3.71E-13	Ubiquitin proteasome system protein	BrainSpLMD|78990	OMIM|608338
U4	RNF216	0.428461705	3.74E-13	Ubiquitin proteasome system protein	BrainSpLMD|54476	OMIM|609948;HPO|54476|Abnormal electroretinogram, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the hypothalamus-pituitary axis, Abnormality of the skeletal system, Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Chorioretinal dystrophy, Decreased fertility, Dementia, Dysarthria, Gynecomastia, Hemiplegia/hemiparesis, Hypogonadotrophic hypogonadism, Infertility, Muscular hypotonia, Neurological speech impairment, Nystagmus, Optic atrophy
U4	SLC38A7	0.902053802	3.75E-13	Transport/cargo protein	BrainSpLMD|55238;Eurexp|euxassay_002038|choroid plexus, dorsal grey horn, head mesenchyme, incisor, lateral recess, lip, lung, mesenchyme, molar, naris, nasal septum, olfactory, oral epithelium, pectoral girdle and thoracic body wall, trachea, vibrissa	OMIM|614236
U4	ENOX1	1.089220985	3.87E-13	RNA binding protein	BrainSpLMD|55068;Eurexp|euxassay_010501|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610914
U4	ZCCHC17	0.416563538	4.07E-13	RNA binding protein	BrainSpLMD|51538	
U4	RN7SKP139	1.127493321	4.18E-13			
U4	CUL5	0.370158043	4.28E-13	Ubiquitin proteasome system protein	BrainSpLMD|8065	OMIM|601741
U4	PIGG	0.776526402	4.39E-13	Unclassified	BrainSpLMD|54872	OMIM|616918;HPO|54872|Ataxia, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral atrophy, Congenital onset, Delayed speech and language development, EEG with focal spikes, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Hyporeflexia, Intellectual disability, profound, Intrauterine growth retardation, Seizures, Severe muscular hypotonia
U4	COX19	1.639449271	4.46E-13	Chaperone	Eurexp|euxassay_003519|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, respiratory, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610429
U4	HMGN2P3	0.504362987	4.46E-13			
U4	SNAPIN	1.304230379	4.51E-13	Membrane transport protein	BrainSpLMD|23557	OMIM|607007
U4	GTPBP4	0.324975649	4.68E-13	GTPase	BrainSpLMD|23560	
U4	NAP1L4	0.942066035	4.74E-13	Chaperone	BrainSpLMD|4676	OMIM|601651
U4	STAT5B	0.614172567	5.01E-13	Transcription factor	BrainSpLMD|6777;Eurexp|euxassay_019576|liver, mantle layer, thymus primordium;BrainSpMouseDev|20613	OMIM|604260;COSMIC||large granular lymphocytic leukaemia, skin basal cell, APL, IPEX-like syndrome;HPO|6777|Growth hormone deficiency, Respiratory distress, Severe short stature
U4	CABLES2	0.793701848	5.12E-13	Unclassified		
U4	STXBP5	0.522767197	5.15E-13	Transport/cargo protein	BrainSpLMD|134957	SFARI||Autism, 3 - Suggestive evidence;OMIM|604586
U4	GNAS	0.680755145	5.19E-13	G protein	BrainSpLMD|2778	SFARI||Autism, No category;OMIM|139320;COSMIC||pituitary adenoma, pancreatic intraductal papillary mucinous neoplasm, fibrous dysplasia, McCune-Albright syndrome, pseudohypoparathyroidism, type IA;HPO|2778|Abnormality of the musculature, Abnormality of the skin, Adult onset, Agitation, Anxiety, Autosomal dominant inheritance, Basal ganglia calcification, Blindness, Bone pain, Brachydactyly, Broad 1st metacarpal, Bruising susceptibility, Cardiomyopathy, Cataract, Choroid plexus calcification, Coarse facial features, Cognitive impairment, Constrictive median neuropathy, Craniofacial hyperostosis, Decreased circulating ACTH level, Delayed eruption of teeth, Depressed nasal bridge, Depressivity, Diabetes mellitus, Ectopic calcification, Ectopic ossification, Ectopic ossification in muscle tissue, Elevated circulating parathyroid hormone level, Facial asymmetry, Failure to thrive, Fatigue, Fibrous dysplasia of the bones, Full cheeks, Galactorrhea, Generalized hirsutism, Generalized hyperpigmentation, Growth delay, Growth hormone deficiency, Growth hormone excess, Hearing impairment, Hyperparathyroidism, Hyperphosphatemia, Hypertension, Hyperthyroidism, Hypocalcemia, Hypocalcemic tetany, Hypogonadism, Hypophosphatemia, Hypoplasia of dental enamel, Hypothyroidism, Increased bone mineral density, Increased circulating cortisol level, Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}, Infantile onset, Intellectual disability, Intestinal polyposis, Juvenile onset, Kyphosis, Large cafe-au-lait macules with irregular margins, Left ventricular hypertrophy, Limitation of joint mobility, Low urinary cyclic AMP response to PTH administration, Macronodular adrenal hyperplasia, Menometrorrhagia, Menstrual irregularities, Mental deterioration, Mood changes, Multiple cafe-au-lait spots, Muscle weakness, Neoplasm, Nephrolithiasis, Nystagmus, Obesity, Osteoma, Osteopenia, Osteoporosis, Pathologic fracture, Phenotypic variability, Pituitary adenoma, Pituitary growth hormone cell adenoma, Pituitary prolactin cell adenoma, Pituitary resistance to thyroid hormone, Polyostotic fibrous dysplasia, Polyphagia, Precocious puberty, Primary hypercorticolism, Progressive, Prolactin excess, Prolactinoma, Pseudohypoparathyroidism, Psychosis, Recurrent fractures, Reduced bone mineral density, Round face, Seizures, Short 4th metacarpal, Short 5th metacarpal, Short fifth metatarsal, Short finger, Short metacarpal, Short metatarsal, Short neck, Short stature, Short toe, Skeletal dysplasia, Skeletal muscle atrophy, Somatic mosaicism, Somatic mutation, Sporadic, Striae distensae, Subcutaneous nodule, Thickened calvaria, Thin skin, Truncal obesity, Variable expressivity
U4	MTX3	0.417561876	5.40E-13	Unclassified		
U4	HDAC5	1.298370981	5.61E-13	Transcription regulatory protein	BrainSpLMD|10014;Eurexp|euxassay_004693|marginal layer;BrainSpMouseDev|14960	OMIM|605315
U4	NOP56	0.52866269	5.62E-13	Unclassified	BrainSpLMD|10528	OMIM|614154;HPO|10528|Autosomal dominant inheritance, Babinski sign, Cerebellar atrophy, Dysarthria, Gait ataxia, Hyperreflexia, Impaired smooth pursuit, Incoordination, Limb ataxia, Progressive, Slow saccadic eye movements, Tongue atrophy, Tongue fasciculations
U4	PNKP	2.194811414	5.77E-13	DNA binding protein	BrainSpLMD|11284	OMIM|605610;HPO|11284|Areflexia, Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cortical gyral simplification, Dystonia, Epileptic encephalopathy, Generalized hypotonia, Hyperactivity, Hypoplasia of the corpus callosum, Intellectual disability, severe, Motor delay, Oculomotor apraxia, Peripheral neuropathy, Progressive microcephaly, Rapidly progressive, Seizures, Skeletal muscle atrophy, Tetraplegia, Ventriculomegaly
U4	COMT	0.958298885	5.86E-13	Enzyme: Acyltransferase	BrainSpLMD|1312;Eurexp|euxassay_018193|basal columns, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, mantle layer, thymus primordium, trigeminal V, vagus X;BrainSpMouseDev|12629	OMIM|116790;HPO|1312|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
U4	FAM133DP	1.789848901	6.09E-13			
U4	CPNE1	1.864107271	6.22E-13	Transport/cargo protein	BrainSpLMD|8904	OMIM|604205
U4	LRRC27	1.003175318	6.31E-13	Unclassified	BrainSpLMD|80313	
U4	FBXO9	0.744756862	6.40E-13	Ubiquitin proteasome system protein	BrainSpLMD|26268;Eurexp|euxassay_006958|dorsal root ganglion, facial VII, glossopharyngeal IX, liver, trigeminal V, vagus X	OMIM|609091
U4	FMR1	0.351942809	6.56E-13	RNA binding protein	BrainSpLMD|2332;BrainSpMouseDev|14042	SFARI||Autism, No category;OMIM|309550;HPO|2332|Abnormal head movements, Abnormality of metabolism/homeostasis, Adult onset, Anxiety, Attention deficit hyperactivity disorder, Autism, Bowel incontinence, Bradykinesia, Bulbous nose, Cerebellar atrophy, Cerebral cortical atrophy, Chronic otitis media, Coarse facial features, Congenital macroorchidism, Cryptorchidism, Decreased testicular size, Deeply set eye, Delayed skeletal maturation, Dementia, Depressivity, Diffuse cerebellar atrophy, Diffuse cerebral atrophy, Disinhibition, Dysarthria, Dysautonomia, Dysdiadochokinesis, Dysesthesia, Dysmetria, Failure to thrive, Folate-dependent fragile site at Xq28, Frontal bossing, Gait ataxia, Gastroesophageal reflux, Global developmental delay, Gynecomastia, Hearing impairment, High pitched voice, Hyperactivity, Hypogonadism, Hyporeflexia, Hypothyroidism, Impaired distal vibration sensation, Impotence, Incomplete penetrance, Increased circulating gonadotropin level, Inertia, Intellectual disability, mild, Intellectual disability, moderate, Intention tremor, Intrauterine growth retardation, Joint laxity, Large forehead, Long face, Macrocephaly, Macroorchidism, Macroorchidism, postpubertal, Macrotia, Mandibular prognathia, Mask-like facies, Memory impairment, Menstrual irregularities, Mitral valve prolapse, Muscle weakness, Muscular hypotonia, Myalgia, Narrow face, Neurological speech impairment, Nystagmus, Obsessive-compulsive behavior, Obsessive-compulsive trait, Parkinsonism, Pectus excavatum, Periventricular gray matter heterotopia, Pes planus, Pollakisuria, Poor eye contact, Poor fine motor coordination, Postural tremor, Premature ovarian insufficiency, Protruding ear, Resting tremor, Rigidity, Saccadic smooth pursuit, Scoliosis, Seizures, Short foot, Short stature, Sinusitis, Small hand, Sparse body hair, Thin vermilion border, Truncal obesity, Urinary bladder sphincter dysfunction, Urinary incontinence, X-linked dominant inheritance, X-linked inheritance
U4	SLC25A33	0.544838772	6.61E-13	Unclassified	BrainSpLMD|84275	OMIM|610816
U4	SDE2	0.355710761	6.70E-13	Unclassified	BrainSpLMD|163859;Eurexp|euxassay_003360|submandibular gland primordium, thymus primordium	
U4	UTP14C	0.998817241	6.93E-13	Unclassified		OMIM|608969
U4	RNASET2	1.269898094	7.02E-13	Ribonuclease	BrainSpLMD|8635;Eurexp|euxassay_018690|adrenal gland, choroid plexus, floor plate, floorplate, mandible, metanephros, orbito-sphenoid, ovary, pancreas, roof plate, thymus primordium, thyroid, vibrissa	OMIM|612944;HPO|8635|Autosomal recessive inheritance, Focal white matter lesions, Poor speech, Slow progression
U4	INSR	0.469289234	7.12E-13	Receptor tyrosine kinase	BrainSpLMD|3643;Eurexp|euxassay_011041|adrenal gland;BrainSpMouseDev|16110	OMIM|147670;HPO|3643|Abdominal distention, Abnormal C-peptide level, Abnormal facial shape, Abnormality of the abdominal wall, Abnormality of the thyroid gland, Acanthosis nigricans, Accelerated skeletal maturation, Adipose tissue loss, Advanced eruption of teeth, Autosomal dominant inheritance, Autosomal recessive inheritance, Brachydactyly, Cachexia, Cholestasis, Clitoral hypertrophy, Coarse facial features, Coarse hair, Cognitive impairment, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Diabetes mellitus, Diabetic ketoacidosis, Dry skin, Elfin facies, Fasting hyperinsulinemia, Fasting hypoglycemia, Fatigue, Feeding difficulties in infancy, Female pseudohermaphroditism, Generalized hirsutism, Generalized hyperpigmentation, Gingival overgrowth, Global developmental delay, Growth hormone excess, Gynecomastia, Hearing abnormality, Hepatic fibrosis, Heterogeneous, High palate, High, narrow palate, Hyperglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hyperkeratosis, Hypermelanotic macule, Hypertelorism, Hypertrichosis, Hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Inguinal hernia, Insulin-resistant diabetes mellitus, Intrauterine growth retardation, Large hands, Lipoatrophy, Long foot, Long penis, Low-set ears, Low-set, posteriorly rotated ears, Macrotia, Mandibular prognathia, Nail dysplasia, Onychauxis, Ovarian cyst, Pancreatic islet-cell hyperplasia, Peripheral neuropathy, Postnatal growth retardation, Postprandial hyperglycemia, Precocious puberty, Prematurely aged appearance, Prominent nipples, Proptosis, Proteinuria, Recurrent hypoglycemia, Recurrent infections, Recurrent respiratory infections, Seizures, Severe failure to thrive, Short stature, Skeletal muscle atrophy, Small face, Small for gestational age, Subcutaneous nodule, Thick lower lip vermilion, Thick nail, Thick nasal alae, Thickened nuchal skin fold, Type II diabetes mellitus, Umbilical hernia, Wide mouth
U4	GLIPR1	0.849475743	7.44E-13	Unclassified	BrainSpLMD|11010	OMIM|602692
U4	PEX13	0.421106936	7.52E-13	Integral membrane protein	BrainSpLMD|5194	OMIM|601789;HPO|5194|Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the liver, Abnormality of the palate, Anteverted nares, Apnea, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, CNS hypomyelination, Cataract, Central hypotonia, Chorioretinal abnormality, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Death in infancy, Decreased liver function, Depressed nasal bridge, Developmental regression, Dolichocephaly, EEG abnormality, Elevated hepatic transaminases, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Global developmental delay, Hearing impairment, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypospadias, Infantile muscular hypotonia, Jaundice, Large face, Lissencephaly, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Multiple renal cysts, Muscular hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Polymicrogyria, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Respiratory insufficiency, Respiratory tract infection, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Skeletal dysplasia, Spasticity, Strabismus, Triangular face, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Very long chain fatty acid accumulation, Visual impairment, Visual loss, Wide anterior fontanel, Wide nasal bridge
U4	HEXA	0.688659512	7.74E-13	Enzyme: Hydrolase	BrainSpLMD|3073;Eurexp|euxassay_009883|mandible, maxilla	OMIM|606869;HPO|3073|Apathy, Aspiration, Autosomal recessive inheritance, Blindness, Cherry red spot of the macula, Dementia, Exaggerated startle response, GM2-ganglioside accumulation, Generalized hypotonia, Infantile onset, Muscular hypotonia, Poor head control, Psychomotor deterioration, Seizures
U4	GCN1L1	0.637455777	8.71E-13			
U4	CLEC16A	0.954577164	9.52E-13	Unclassified		OMIM|611303
U4	NDUFB4P2	1.661450012	9.57E-13			
U4	MTRNR2L8	0.988323987	9.61E-13			
U4	CHTOP	0.257038434	9.66E-13	Unclassified	BrainSpLMD|26097	OMIM|614206
U4	NETO1	2.2168031	1.00E-12	Unclassified	BrainSpLMD|81832	OMIM|607973
U4	GDI2P2	1.507532993	1.01E-12			
U4	SERPINB8	0.926541487	1.09E-12	Protease inhibitor	BrainSpLMD|5271	OMIM|601697;HPO|5271|Autosomal recessive inheritance, Epidermal acanthosis, Hyperkeratosis
U4	PLCB4	0.274568277	1.09E-12	GTPase activating protein;Enzyme: Phospholipase	BrainSpLMD|5332;BrainSpMouseDev|18562	OMIM|600810;HPO|5332|Apnea, Autosomal dominant inheritance, Autosomal recessive inheritance, Cleft at the superior portion of the pinna, Cleft palate, Dental crowding, Dental malocclusion, Hypoplastic superior helix, Low-set ears, Mandibular condyle aplasia, Mandibular condyle hypoplasia, Overfolding of the superior helices, Posteriorly rotated ears, Round face, Snoring, Speech articulation difficulties
U4	ST7	0.498727958	1.10E-12	Cell cycle control protein	BrainSpLMD|7982;Eurexp|euxassay_007207|brain, spinal cord;BrainSpMouseDev|40846	SFARI||Autism, 4 - Minimal evidence;OMIM|600833
U4	MLEC	0.471494915	1.13E-12	Unclassified	BrainSpLMD|9761;Eurexp|euxassay_016414|clavicle, lung, mandible, maxilla, orbito-sphenoid, submandibular gland primordium, temporal bone, turbinate	OMIM|613802
U4	NR2E1	0.849472077	1.13E-12	Nuclear receptor	BrainSpLMD|7101;Eurexp|euxassay_007190|epidermis, olfactory, retina, ventricular layer;BrainSpMouseDev|21664	OMIM|603849
U4	AGTRAP	1.371994197	1.16E-12	Unclassified	BrainSpLMD|57085	OMIM|608729
U4	UTP18	0.7309982	1.19E-12	Unclassified	BrainSpLMD|51096	OMIM|612816
U4	PSMG3.AS1	1.943792548	1.20E-12			
U4	GAB1	0.578878162	1.21E-12	Adapter molecule	BrainSpLMD|2549	OMIM|604439
U4	DDIT3	0.401476796	1.22E-12	Transcription factor	BrainSpLMD|1649;Eurexp|euxassay_009824|olfactory;BrainSpMouseDev|12978	OMIM|126337;COSMIC||liposarcoma;HPO|1649|Myxoid liposarcoma, Somatic mutation, Subcutaneous nodule
U4	PTPRT	0.326878793	1.27E-12	Receptor tyrosine phosphatase	BrainSpLMD|11122	SFARI||Autism, No category;OMIM|608712;COSMIC||HNSCC, colorectal cancer, gastric cancer, lung cancer, melanoma
U4	C2orf80	1.496517282	1.28E-12	Unclassified		OMIM|615536
U4	AF230666.2	1.664447344	1.32E-12			
U4	ASAH2B	0.867623979	1.35E-12	Unclassified		
U4	SECISBP2	0.409860861	1.42E-12	RNA binding protein	BrainSpLMD|79048	OMIM|607693;HPO|79048|Autosomal recessive inheritance, Delayed skeletal maturation, Increased thyroid-stimulating hormone level
U4	SOD1	0.465570672	1.44E-12	Enzyme: Superoxide dismutase	BrainSpLMD|6647	SFARI||Autism, No category;OMIM|147450;HPO|6647|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Degeneration of anterior horn cells, Degeneration of the lateral corticospinal tracts, Depressivity, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Heterogeneous, Hyperreflexia, Muscle cramps, Muscle weakness, Neurodegeneration, Pain, Paralysis, Pseudobulbar paralysis, Respiratory failure, Skeletal muscle atrophy, Sleep apnea, Spasticity, Xerostomia
U4	PDGFA	0.499335461	1.54E-12	Growth factor	Eurexp|euxassay_004036|anterior, axial skeleton, calyces, choroid invagination, choroid plexus, conjunctival sac, diaphragm, epidermis, epithelium, external, footplate, handplate, incisor, left lung, midgut, molar, naso-lacrimal duct, olfactory, oral epithelium, orbito-sphenoid, paraxial mesenchyme, pharyngo-tympanic tube, posterior, primitive seminiferous tubules, rest of mesenchyme, right lung, roof plate, skeletal muscle, stomach, submandibular gland primordium, thymus primordium, trachea, urethra, vertebral axis muscle system, vibrissa, vomeronasal organ;BrainSpMouseDev|18356	OMIM|173430
U4	RP9P	1.175057729	1.58E-12		BrainSpLMD|441212	
U4	SHPK	2.122832606	1.62E-12	Unclassified	BrainSpLMD|23729;Eurexp|euxassay_001932|trigeminal V	OMIM|605060;HPO|23729|Abnormal CNS myelination, Abnormality of the renal tubule, Arthrogryposis multiplex congenita, Breech presentation, Cholestatic liver disease, Diastasis recti, Hepatitis, High forehead, Hip dysplasia, Hypochromic microcytic anemia, Hypotelorism, Inguinal hernia, Large fontanelles, Macrocephaly, Neonatal asphyxia, Portal hypertension, Postprandial hyperglycemia, Renal insufficiency, Severe postnatal growth retardation, Shallow orbits, Short stature, Steatorrhea, Subcortical cerebral atrophy, Ventriculomegaly
U4	NUPL2	0.345372374	1.72E-12	Transport/cargo protein	BrainSpLMD|11097	
U4	MFSD5	1.377801743	1.78E-12	Unclassified	BrainSpLMD|84975;Eurexp|euxassay_000392|basal plate, mantle layer, ventral grey horn	
U4	ADCK1	0.976392527	1.81E-12	Chaperone	BrainSpLMD|57143	
U4	RPS2	0.851313282	1.84E-12	Ribosomal subunit	BrainSpLMD|6187;Eurexp|euxassay_005928|embryo	OMIM|603624
U4	NPDC1	1.734397079	1.88E-12	Unclassified	BrainSpLMD|56654;Eurexp|euxassay_002723|axial skeleton, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, stroma, trigeminal V, vestibulocochlear VIII	OMIM|605798
U4	NUP153	0.418226803	2.00E-12	Transport/cargo protein	BrainSpLMD|9972	OMIM|603948
U4	LEF1	1.144574035	2.01E-12	Transcription factor	BrainSpLMD|51176;BrainSpMouseDev|16613	OMIM|153245;COSMIC||B-ALL, T-ALL, eyelid sebaceous carcinoma, AML, lymphomas
U4	RAB7A	0.532637157	2.01E-12	GTPase	BrainSpLMD|7879	OMIM|602298;HPO|7879|Areflexia, Autoamputation of foot, Autosomal dominant inheritance, Axonal degeneration/regeneration, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Dystrophic toenail, Foot dorsiflexor weakness, Foot osteomyelitis, Hammertoe, Hyporeflexia, Peripheral axonal atrophy, Pes cavus, Pes planus, Steppage gait
U4	PCNT	0.390950284	2.04E-12	Cytoskeletal protein	BrainSpLMD|5116;BrainSpMouseDev|18307	OMIM|605925;HPO|5116|Abnormality of dental enamel, Abnormality of epiphysis morphology, Abnormality of female external genitalia, Abnormality of the metaphysis, Absent earlobe, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Autosomal recessive inheritance, Brachydactyly, Cachexia, Cafe-au-lait spot, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Coxa vara, Craniosynostosis, Delayed skeletal maturation, Dilatation of the cerebral artery, Disproportionate short stature, Downslanted palpebral fissures, Dry skin, Fine hair, Flared metaphysis, Full cheeks, Glaucoma, Global developmental delay, High pitched voice, Hip dysplasia, Hypermetropia, Hypopigmented skin patches, Hypoplasia of dental enamel, Hypoplastic iliac wing, Hypospadias, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Microcephaly, Microdontia, Micrognathia, Micromelia, Microtia, Mild global developmental delay, Moyamoya phenomenon, Multiple cafe-au-lait spots, Narrow face, Narrow pelvis bone, Nasal speech, Postnatal growth retardation, Precocious puberty, Prematurely aged appearance, Prominent nasal bridge, Prominent nose, Proximal femoral epiphysiolysis, Pseudoepiphyses of the metacarpals, Radial bowing, Reduced number of teeth, Retrognathia, Sandal gap, Scoliosis, Sensorineural hearing impairment, Short 1st metacarpal, Short distal phalanx of finger, Short stature, Slender long bone, Sloping forehead, Sparse scalp hair, Tibial bowing, Truncal obesity, Type II diabetes mellitus, Ulnar bowing, Underdeveloped nasal alae, Upslanted palpebral fissure, Wide nasal bridge
U4	CWC15	1.204462607	2.04E-12	Unclassified	BrainSpLMD|51503	
U4	BTG1	0.421517711	2.09E-12	Cell cycle control protein	BrainSpLMD|694	OMIM|109580;COSMIC||B-CLL
U4	RP11.551L14.1	1.59251459	2.09E-12			
U4	MAPK9	0.390012011	2.12E-12	Serine/threonine kinase	BrainSpLMD|5601;BrainSpMouseDev|26168	OMIM|602896
U4	BRD2	0.506681187	2.22E-12	Transcription regulatory protein	BrainSpLMD|6046;Eurexp|euxassay_012809|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mandible, mantle layer, maxilla, orbito-sphenoid, submandibular gland primordium, trigeminal V, vagus X	OMIM|601540
U4	USP7	0.489344601	2.34E-12	Ubiquitin proteasome system protein	BrainSpLMD|7874	SFARI||Autism, 2 - Strong candidate;OMIM|602519
U4	LUC7L	0.579683627	2.44E-12	Unclassified	BrainSpLMD|55692	OMIM|607782
U4	NUFIP2	0.296454855	2.48E-12	RNA binding protein	BrainSpLMD|57532	OMIM|609356
U4	OXA1L	0.324813929	2.56E-12	Enzyme: Oxidase	BrainSpLMD|5018	OMIM|601066
U4	RP11.641D5.1	0.693318799	2.61E-12			
U4	TIGD1	0.446750189	2.62E-12	DNA binding protein	BrainSpLMD|200765	OMIM|612972
U4	BRD4	0.493024835	2.66E-12	Cell cycle control protein	BrainSpLMD|23476	SFARI||Autism, 4 - Minimal evidence;OMIM|608749;COSMIC||lethal midline carcinoma of young people
U4	NOS1AP	0.47043439	2.75E-12	Adapter molecule	BrainSpLMD|9722;BrainSpMouseDev|46570	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605551
U4	NSFL1C	0.42696642	2.77E-12	Unclassified	BrainSpLMD|55968	OMIM|606610
U4	CD320	1.64564016	2.90E-12	Unclassified	BrainSpLMD|51293	OMIM|606475;HPO|51293|Autosomal recessive inheritance, Methylmalonic aciduria
U4	CALCOCO2	0.404973241	2.95E-12	Unclassified	BrainSpLMD|10241	OMIM|604587
U4	CLN8	0.806597334	2.98E-12	Integral membrane protein	BrainSpLMD|2055	SFARI||Autism, 4 - Minimal evidence;OMIM|607837;HPO|2055|Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Clumsiness, Curvilinear intracellular accumulation of autofluorescent lipopigment storage material, Delayed speech and language development, Developmental regression, EEG abnormality, Focal seizures with impairment of consciousness or awareness, Generalized tonic-clonic seizures, Increased neuronal autofluorescent lipopigment, Intellectual disability, Irritability, Mental deterioration, Myoclonus, Progressive visual loss, Psychosis, Restlessness, Seizures, Slow progression
U4	CWC22	0.407053508	2.98E-12	Unclassified		OMIM|615186
U4	SETD4	0.586570002	3.00E-12	Unclassified	BrainSpLMD|54093	
U4	COBL	1.761066187	3.05E-12	Unclassified	BrainSpLMD|23242;Eurexp|euxassay_014151|aorta, bladder, dorsal root ganglion, epithelium, glossopharyngeal IX, left lung, mantle layer, midgut, olfactory, right lung, stomach, trigeminal V, ventral grey horn	OMIM|610317
U4	RP11.214K3.21	1.431043407	3.10E-12			
U4	RNPS1	0.52560799	3.10E-12	RNA binding protein	BrainSpLMD|10921	SFARI||Autism, No category;OMIM|606447
U4	ISG20L2	0.403290252	3.14E-12	Unclassified	BrainSpLMD|81875;Eurexp|euxassay_015937|dorsal root ganglion, incisor, metanephros, molar, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|611930
U4	GCLC	0.621942329	3.17E-12	Enzyme: Ligase	BrainSpLMD|2729;Eurexp|euxassay_011554|calyces, cochlea, endolymphatic duct, epithelium, larynx, left lung, liver, midgut, oesophagus, olfactory, pelvis, right lung, skeletal muscle, stomach, submandibular gland primordium, thymus primordium, trachea, utricle, vibrissa	OMIM|606857;HPO|2729|Abnormality of metabolism/homeostasis, Anemia, Autosomal recessive inheritance, Hemolytic anemia, Late-onset spinocerebellar degeneration, Myopathy, Polyneuropathy
U4	ZSCAN16.AS1	1.915260326	3.29E-12			
U4	ZNF501	0.479007785	3.42E-12	Unclassified	BrainSpLMD|115560	
U4	RP11.175O19.4	0.610793165	3.44E-12			
U4	HNRNPCP2	0.768547784	3.50E-12			
U4	SERPINB6	0.368328267	3.51E-12	Protease inhibitor	BrainSpLMD|5269;Eurexp|euxassay_012500|adrenal gland, aorta, diaphragm, dorsal root ganglion, epithelium, eyelid, facial VII, glossopharyngeal IX, hindgut, incisor, left lung, mantle layer, mesenchyme, midgut, naris, naso-lacrimal duct, ovary, rectum, right lung, submandibular gland primordium, testis, thymus primordium, trachea, trigeminal V, umbilical artery, vagus X, ventral grey horn	OMIM|173321;HPO|5269|Autosomal recessive inheritance, Progressive hearing impairment
U4	CLGN	0.35628022	3.69E-12	Chaperone	BrainSpLMD|1047	OMIM|601858
U4	CMB9.94B1.1	2.988657578	3.75E-12			
U4	SRSF8	0.772625708	3.84E-12	Transcription regulatory protein		OMIM|603269
U4	FAM168B	0.362247086	3.92E-12	Unclassified	BrainSpLMD|130074	
U4	TGDS	0.718941908	4.28E-12	Enzyme: Hydratase	BrainSpLMD|23483	OMIM|616146;HPO|23483|Abnormality of epiphysis morphology, Abnormality of the pinna, Autosomal recessive inheritance, Camptodactyly, Chronic otitis media, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Coarctation of aorta, Cryptorchidism, Cystic hygroma, Dextrocardia, Failure to thrive, Full cheeks, Global developmental delay, Glossoptosis, High palate, Highly arched eyebrow, Hyperphalangy of the 2nd finger, Inguinal hernia, Intrauterine growth retardation, Joint dislocation, Joint laxity, Joint stiffness, Low-set ears, Low-set, posteriorly rotated ears, Malar flattening, Micrognathia, Overriding aorta, Pectus carinatum, Pectus excavatum, Postnatal growth retardation, Scoliosis, Seizures, Short neck, Short stature, Single transverse palmar crease, Talipes equinovarus, Ulnar deviation of the 2nd finger, Umbilical hernia, Ventricular septal defect
U4	RP1.68D18.3	1.11238767	4.38E-12			
U4	SLC6A16	1.868577188	4.39E-12	Transport/cargo protein	BrainSpLMD|28968	OMIM|607972
U4	CEP104	0.425456073	4.44E-12	Unclassified	BrainSpLMD|9731	OMIM|616690;HPO|9731|Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Episodic tachypnea, Feeding difficulties in infancy, Gait disturbance, Global developmental delay, Infantile onset, Intellectual disability, Long face, Muscular hypotonia, Nystagmus, Oculomotor apraxia
U4	NISCH	1.070200643	4.51E-12	Cell surface receptor	BrainSpLMD|11188	OMIM|615507
U4	RTF1	1.035255822	4.57E-12	Unclassified	BrainSpLMD|23168	OMIM|611633
U4	PITPNC1	0.650569952	4.66E-12	Transport/cargo protein	BrainSpLMD|26207	OMIM|605134
U4	MAD2L2	1.244354723	4.72E-12	Cell cycle control protein	BrainSpLMD|10459;Eurexp|euxassay_003427|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, penis, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|604094;HPO|10459|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bone marrow hypocellularity, Elevated alpha-fetoprotein, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Neutropenia, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia
U4	CRY1	0.575089702	4.86E-12	Translation regulatory protein	BrainSpLMD|1407	OMIM|601933
U4	DSCAML1	1.062057494	4.90E-12	Adhesion molecule	BrainSpLMD|57453;Eurexp|euxassay_015851|dorsal grey horn, mantle layer, olfactory, vomeronasal organ;BrainSpMouseDev|77592	OMIM|611782
U4	LAMA4	0.297468121	5.04E-12	Adhesion molecule	BrainSpLMD|3910;Eurexp|euxassay_013553|lip, nasal cavity	OMIM|600133;HPO|3910|Autosomal dominant inheritance, Dilated cardiomyopathy
U4	TTC9B	1.172324522	5.07E-12	Unclassified	BrainSpLMD|148014;Eurexp|euxassay_008050|dorsal root ganglion, glossopharyngeal IX, marginal layer, trigeminal V, vagus X	
U4	FIS1	1.01585595	5.22E-12	Unclassified	BrainSpLMD|51024	OMIM|609003
U4	ELAVL3	0.288133096	5.56E-12	RNA binding protein	BrainSpLMD|1995	SFARI||Autism, 3 - Suggestive evidence;OMIM|603458
U4	FEZ1	0.531621522	5.58E-12	Unclassified	BrainSpLMD|9638;BrainSpMouseDev|87970	OMIM|604825
U4	EIF2B5	0.570042007	5.71E-12	Translation regulatory protein	BrainSpLMD|8893	OMIM|603945;HPO|8893|Autosomal recessive inheritance, CNS demyelination, Cerebral hypomyelination, Cessation of head growth, Decreased circulating progesterone, Delusions, Developmental regression, Dysarthria, Emotional lability, Generalized hypotonia, Juvenile onset, Lethargy, Leukoencephalopathy, Macrocephaly, Memory impairment, Optic atrophy, Personality changes, Premature ovarian insufficiency, Primary gonadal insufficiency, Secondary amenorrhea, Seizures, Spasticity, Unsteady gait
U4	DHX30	1.169088846	5.81E-12	RNA binding protein	BrainSpLMD|22907	OMIM|616423
U4	ZFP14	0.431566172	6.23E-12	DNA binding protein	Eurexp|euxassay_006835|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	
U4	PMM2	0.787346876	6.25E-12	Enzyme: Mutase	BrainSpLMD|5373	OMIM|601785;HPO|5373|Abnormal subcutaneous fat tissue distribution, Abnormality of the amniotic fluid, Ataxia, Autosomal recessive inheritance, Cardiomyopathy, Depressed nasal bridge, Diarrhea, Elevated hepatic transaminases, Esotropia, Failure to thrive, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism, Hypoalbuminemia, Hypocholesterolemia, Hyporeflexia, Hypothyroidism, IgA deficiency, IgG deficiency, Inverted nipples, Kyphosis, Macrotia, Microcephaly, Muscle weakness, Nephrotic syndrome, Nonimmune hydrops fetalis, Nystagmus, Olivopontocerebellar hypoplasia, Osteopenia, Pericardial effusion, Polyneuropathy, Premature ovarian insufficiency, Prolonged partial thromboplastin time, Prolonged prothrombin time, Prominent forehead, Proteinuria, Proximal tubulopathy, Reduced antithrombin III activity, Reduced factor XI activity, Renal cyst, Rod-cone dystrophy, Seizures, Stroke-like episode, Thin upper lip vermilion, Thrombocytosis, Type I transferrin isoform profile, Vomiting
U4	DOLK	1.212806233	6.26E-12	Integral membrane protein	BrainSpLMD|22845	SFARI||Autism, No category;OMIM|610746;HPO|22845|Abnormal isoelectric focusing of serum transferrin, Abnormality of coagulation, Aplasia/Hypoplasia of the nipples, Autosomal recessive inheritance, Cerebral cortical atrophy, Cognitive impairment, Death in infancy, Dilated cardiomyopathy, Dry skin, Failure to thrive, Hepatomegaly, Hypoketotic hypoglycemia, Hypsarrhythmia, Ichthyosis, Lipoatrophy, Myalgia, Postnatal microcephaly, Seizures, Sparse and thin eyebrow, Sparse eyelashes, Splenomegaly
U4	FAXDC2	0.9681212	6.36E-12	Integral membrane protein	BrainSpLMD|10826	
U4	FTH1P2	0.327243361	6.43E-12			
U4	FAHD1	0.815577305	6.55E-12	Unclassified	BrainSpLMD|81889	OMIM|616320
U4	CLK2	0.690281913	6.82E-12	Dual specificity kinase	BrainSpLMD|1196	OMIM|602989
U4	MYCBP2	0.453395675	6.91E-12	Transcription regulatory protein	BrainSpLMD|23077;Eurexp|euxassay_009485|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|69854	OMIM|610392
U4	SPSB4	2.063616819	7.00E-12	Unclassified	BrainSpLMD|92369	OMIM|611660
U4	USP49	2.051076513	7.02E-12	Cysteine protease	BrainSpLMD|25862	
U4	SREK1	1.390764263	7.19E-12	RNA binding protein	BrainSpLMD|140890	OMIM|609268
U4	ASRGL1	1.850121279	7.37E-12	Unclassified	BrainSpLMD|80150;Eurexp|euxassay_000035|central nervous system, corpus striatum, ventricular layer	OMIM|609212
U4	MRPS5	0.638504202	7.55E-12	RNA binding protein	BrainSpLMD|64969	OMIM|611972
U4	RTCA	0.300917496	7.62E-12	RNA binding protein	BrainSpLMD|8634	OMIM|611286
U4	WNK2	1.007269322	7.67E-12	Serine/threonine kinase	BrainSpLMD|65268;Eurexp|euxassay_009817|brain, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|606249;COSMIC||gastric cancer
U4	ZNF480	0.516628098	7.68E-12	DNA binding protein	BrainSpLMD|147657	OMIM|613910
U4	BAP1	0.990390567	7.84E-12	Ubiquitin proteasome system protein	BrainSpLMD|8314	OMIM|603089;COSMIC||uveal melanoma, breast, NSCLC, RCC, mesothelioma, uveal melanoma;HPO|8314|Abnormality of the hair, Abnormality of the lymphatic system, Autosomal dominant inheritance, Choroidal melanoma, Ciliary body melanoma, Cutaneous melanoma, Dry skin, Freckling, Intraocular melanoma, Iris melanoma, Lung adenocarcinoma, Melanoma, Meningioma, Nevus, Retinal detachment, Visual loss
U4	RP11.425L10.1	2.319401918	8.21E-12			
U4	RP11.161I2.1	0.847012782	8.29E-12			
U4	ATP5SL	0.594112337	8.40E-12			
U4	CSAD	0.925693504	8.41E-12	Enzyme: Decarboxylase	BrainSpLMD|51380	OMIM|616569
U4	ACOX1	0.35620318	8.60E-12	Enzyme: Oxidase	BrainSpLMD|51;Eurexp|euxassay_018548|dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, trigeminal V, vagus X, ventricular layer	OMIM|609751;HPO|51|Abnormal electroretinogram, Abnormality of metabolism/homeostasis, Abnormality of nervous system morphology, Abnormality of visual evoked potentials, Autosomal recessive inheritance, Babinski sign, Bilateral sensorineural hearing impairment, Brachycephaly, CNS demyelination, Death in infancy, Decreased light- and dark-adapted electroretinogram amplitude, Depressed nasal bridge, Developmental regression, Diffuse hepatic steatosis, Dysphagia, Dystonia, EEG abnormality, Elevated hepatic transaminases, Epicanthus, Failure to thrive, Frontal bossing, Gait disturbance, Global developmental delay, Hepatomegaly, Hyperreflexia, Hypertelorism, Hypertonia, Hypodontia, Infantile onset, Intellectual disability, progressive, Intellectual disability, severe, Inverted nipples, Irritability, Leukodystrophy, Low-set ears, Muscular hypotonia, Myopia, Neonatal hypotonia, Neurological speech impairment, No social interaction, Nystagmus, Optic atrophy, Pigmentary retinopathy, Respiratory insufficiency, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Strabismus, Tapetoretinal degeneration, Wide nasal bridge
U4	DHX29	0.425664131	8.62E-12	RNA helicase	BrainSpLMD|54505	OMIM|612720
U4	ADCY2	0.358920549	8.73E-12	Adenylate cyclase	BrainSpLMD|108;BrainSpMouseDev|84170	OMIM|103071
U4	ZNF154	0.674918351	8.76E-12	Transcription regulatory protein	BrainSpLMD|7710	OMIM|604085
U4	ATXN7	1.080844426	8.99E-12	Unclassified	BrainSpLMD|6314;Eurexp|euxassay_007505|alimentary system, cardiovascular system, cavities and their linings, ganglion, gland, integumental system, limb, mantle layer, mesenchyme, nerve, peripheral nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system	SFARI||Autism, 5 - Hypothesized but untested;OMIM|607640;HPO|6314|Abnormality of extrapyramidal motor function, Autosomal dominant inheritance, Babinski sign, Chorea, Dysmetria, Dysphagia, Genetic anticipation with paternal anticipation bias, Macular degeneration, Olivopontocerebellar atrophy, Orofacial dyskinesia, Pigmentary retinal degeneration, Progressive visual loss, Slow saccadic eye movements, Spasticity, Supranuclear ophthalmoplegia
U4	APEX2	1.108690297	9.08E-12	DNA endonuclease	BrainSpLMD|27301	OMIM|300773
U4	PIP4K2B	0.25364422	9.19E-12	Lipid Kinase	BrainSpLMD|8396;Eurexp|euxassay_004158|diencephalon, mandible, olfactory, petrous part, telencephalon, ventricular layer	OMIM|603261
U4	E2F4	1.014112917	9.82E-12	Transcription factor	BrainSpLMD|1874;Eurexp|euxassay_002000|lobe, thymus primordium;BrainSpMouseDev|68559	OMIM|600659
U4	RNF8	0.848953396	9.84E-12	Ubiquitin proteasome system protein	BrainSpLMD|9025;Eurexp|euxassay_005086|marginal layer, olfactory, respiratory, thymus primordium, trigeminal V, vagus X, ventricular layer	OMIM|611685
U4	TSPAN31	0.778941814	1.02E-11	Cell cycle control protein	BrainSpLMD|6302;BrainSpMouseDev|42968	OMIM|181035
U4	SMARCD3	0.626226416	1.04E-11	Transcription regulatory protein	BrainSpLMD|6604	OMIM|601737
U4	ATP13A4	1.377415002	1.05E-11	ATPase	BrainSpLMD|84239	OMIM|609556
U4	UBAP1	1.170805435	1.07E-11	Unclassified	BrainSpLMD|51271	OMIM|609787
U4	TXNDC16	0.366457861	1.11E-11	Unclassified		OMIM|616179
U4	SFXN3	1.125633765	1.13E-11	Integral membrane protein	BrainSpLMD|81855	OMIM|615571
U4	RDH13	0.932344417	1.14E-11	Enzyme: Oxidoreductase	BrainSpLMD|112724	
U4	BACH1.IT1	1.938483898	1.14E-11			
U4	PLAGL2	0.73103683	1.14E-11	Transcription regulatory protein	BrainSpLMD|5326	OMIM|604866
U4	SEC61B	1.098137142	1.15E-11	Membrane transport protein		OMIM|609214
U4	PHF8	0.651168892	1.19E-11	DNA binding protein	BrainSpLMD|23133	SFARI||Autism, No category;OMIM|300560;HPO|23133|Broad nasal tip, Cleft upper lip, Cryptorchidism, Decreased testicular size, Delayed speech and language development, Intellectual disability, Intellectual disability, mild, Large hands, Long face, Long toe, Low posterior hairline, Nasal speech, Pes planus, Prominent supraorbital ridges, Sloping forehead, Synophrys, Thoracic kyphosis, Upslanted palpebral fissure, X-linked recessive inheritance
U4	PSMA6P1	1.1937403	1.20E-11			
U4	AGL	0.408354126	1.25E-11	Enzyme: Glucosidase	BrainSpLMD|178;Eurexp|euxassay_013482|dorsal root ganglion, facial VII, glossopharyngeal IX, skeletal muscle, trigeminal V, ventral grey horn, vertebral axis muscle system	OMIM|610860;HPO|178|Autosomal recessive inheritance, Broad nasal tip, Cardiomyopathy, Deeply set eye, Depressed nasal bridge, Distal amyotrophy, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Full cheeks, Hepatic fibrosis, Hepatomegaly, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Immunodeficiency, Intellectual disability, mild, Malar flattening, Midface retrusion, Muscle weakness, Myopathy, Short stature, Thin upper lip vermilion, Ventricular hypertrophy
U4	XPO7	0.398062505	1.25E-11	Transport/cargo protein	BrainSpLMD|23039	OMIM|606140
U4	TIFA	0.98370691	1.27E-11	Adapter molecule	BrainSpLMD|92610;Eurexp|euxassay_008615|liver, midgut, thymus primordium, trigeminal V, ventricular layer	OMIM|609028
U4	CMTM4	1.122692943	1.27E-11	Integral membrane protein	BrainSpLMD|146223;Eurexp|euxassay_010370|bladder, glomeruli, midgut, olfactory, pancreas, rectum, stomach, submandibular gland primordium, vomeronasal organ	OMIM|607887
U4	ZNF582.AS1	1.028819321	1.34E-11			
U4	GPR82	0.452069363	1.42E-11	G protein coupled receptor	BrainSpLMD|27197	OMIM|300748
U4	HNRNPUL2	1.151672891	1.45E-11	RNA binding protein	Eurexp|euxassay_018283|olfactory, submandibular gland primordium	
U4	MYNN	0.522412109	1.56E-11	Transcription factor	BrainSpLMD|55892;Eurexp|euxassay_007036|embryo	OMIM|606042
U4	DERA	0.692237816	1.60E-11	Enzyme: Lyase	BrainSpLMD|51071	
U4	HMGB1P41	1.114192587	1.66E-11			
U4	GS1.124K5.12	1.201161252	1.68E-11			
U4	CCDC127	0.785989807	1.70E-11	Unclassified	BrainSpLMD|133957	
U4	TRIM59	2.751378925	1.74E-11	Ubiquitin proteasome system protein		OMIM|616148
U4	C1orf43	0.803637146	1.76E-11	Unclassified	BrainSpLMD|25912	OMIM|617428
U4	ASXL2	0.406304425	1.91E-11	DNA binding protein	BrainSpLMD|55252;Eurexp|euxassay_009229|ventricular layer, vibrissa	OMIM|612991;COSMIC||melanoma, CCRCC, AML;HPO|55252|Atrial septal defect, Autosomal dominant inheritance, Broad nasal tip, Deep palmar crease, Delayed speech and language development, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Highly arched eyebrow, Hypertelorism, Infantile onset, Intellectual disability, Kyphosis, Long face, Low-set ears, Macrocephaly, Phenotypic variability, Posteriorly rotated ears, Proptosis, Ptosis, Retrognathia, Scoliosis, Ventriculomegaly
U4	TOX4	0.901932406	2.04E-11	DNA binding protein	BrainSpLMD|9878;Eurexp|euxassay_016419|dorsal root ganglion, glossopharyngeal IX, trigeminal V, ventral grey horn;BrainSpMouseDev|92572	OMIM|614032
U4	CTC.542B22.2	1.05629329	2.04E-11			
U4	FAM122A	0.89949663	2.05E-11	Unclassified	BrainSpLMD|116224	OMIM|617249
U4	PDIA3	0.544854787	2.07E-11	Enzyme: Isomerase		OMIM|602046
U4	LGR4	0.71977818	2.10E-11	G protein coupled receptor	BrainSpLMD|55366	OMIM|606666
U4	E2F3	0.531175484	2.16E-11	Transcription factor	BrainSpLMD|1871;BrainSpMouseDev|13336	OMIM|600427
U4	CA5BP1	0.801152767	2.20E-11			
U4	DUSP3	0.366017624	2.26E-11	Dual specificity phosphatase	BrainSpLMD|1845;Eurexp|euxassay_001212|glossopharyngeal IX, vagus X	OMIM|600183
U4	FRS2	0.410366305	2.26E-11	Adapter molecule	BrainSpLMD|10818	OMIM|607743
U4	INSM1	1.217043424	2.31E-11	Transcription factor	BrainSpLMD|3642;Eurexp|euxassay_019598|adrenal gland, mantle layer, marginal layer, neural retina, olfactory, pancreas, ventricular layer, vomeronasal organ;BrainSpMouseDev|32944	OMIM|600010
U4	SAFB2	1.101787834	2.31E-11	Unclassified	BrainSpLMD|9667	OMIM|608066
U4	RUSC2	0.5496833	2.34E-11	Unclassified		OMIM|611053
U4	RPL7P32	0.570309593	2.34E-11			
U4	CERS6	1.030638577	2.38E-11	Transcription regulatory protein	BrainSpLMD|253782	OMIM|615336
U4	HSPE1	1.010761519	2.43E-11	Heat shock protein	BrainSpLMD|3336	OMIM|600141
U4	TLE1	0.738261682	2.44E-11	Transcription regulatory protein	BrainSpLMD|7088;Eurexp|euxassay_017921|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, pituitary, stroma, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|21644	OMIM|600189
U4	CD46	1.015504335	2.46E-11	Cell surface receptor	BrainSpLMD|4179	OMIM|120920
U4	CUTC	2.286718421	2.49E-11	Unclassified	BrainSpLMD|51076	OMIM|610101
U4	NOL10	0.425279913	2.57E-11	Unclassified	BrainSpLMD|79954	OMIM|616197
U4	TMEM203	1.34342364	2.59E-11	-		OMIM|616499
U4	UST	1.26221536	2.59E-11	Enzyme: Sulphotransferase	BrainSpLMD|10090	OMIM|610752
U4	ZDHHC5	0.71602181	2.94E-11	Integral membrane protein	BrainSpLMD|25921	OMIM|614586
U4	PALD1	1.180955426	3.03E-11	Unclassified	BrainSpLMD|27143;Eurexp|euxassay_007695|brain, incisor, mandible, maxilla, molar, palatal shelf, spinal cord, ventricular layer, vibrissa	OMIM|614656
U4	SNRPGP2	0.486996775	3.06E-11			
U4	RYBP	0.51187462	3.31E-11	Transcription regulatory protein	BrainSpLMD|23429;Eurexp|euxassay_019658|mantle layer, olfactory, vibrissa, vomeronasal organ;BrainSpMouseDev|35633	OMIM|607535
U4	AURKC	1.012942288	3.43E-11	Serine/threonine kinase	BrainSpLMD|6795	OMIM|603495;HPO|6795|Autosomal recessive inheritance, Functional abnormality of male internal genitalia, Male infertility
U4	C1orf174	2.020489155	3.57E-11	Unclassified	BrainSpLMD|339448	
U4	RBBP8	0.338334922	3.63E-11	Transcription regulatory protein	BrainSpLMD|5932	OMIM|604124;HPO|5932|4-5 toe syndactyly, Abnormality of dental enamel, Absent earlobe, Absent fourth finger distal interphalangeal crease, Aggressive behavior, Autosomal recessive inheritance, Cachexia, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital microcephaly, Convex nasal ridge, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Few cafe-au-lait spots, Glaucoma, Growth delay, Hallux valgus, Heart murmur, Hip dysplasia, Hypospadias, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Microdontia, Microglossia, Micrognathia, Microphthalmia, Mild global developmental delay, Narrow face, Narrow forehead, Prematurely aged appearance, Prominent nose, Reduced number of teeth, Retrognathia, Sandal gap, Short middle phalanx of the 5th finger, Short stature, Single interphalangeal crease of fifth finger, Small for gestational age, Sparse scalp hair, Thoracic scoliosis
U4	HSP90B1	0.297308436	3.68E-11	Heat shock protein	BrainSpLMD|7184;Eurexp|euxassay_000099|body-wall mesenchyme, dermis, epidermis, nucleus pulposus	OMIM|191175
U4	GTF2H3	0.57834869	3.74E-11	Transcription factor	BrainSpLMD|2967;Eurexp|euxassay_002982|submandibular gland primordium	OMIM|601750
U4	TPI1P1	0.48184859	3.80E-11			
U4	PSME3	1.197186768	3.85E-11	Ubiquitin proteasome system protein	BrainSpLMD|10197;Eurexp|euxassay_006198|ventricular layer	OMIM|605129
U4	LASP1	0.638961673	3.86E-11	Cytoskeletal associated protein	BrainSpLMD|3927;Eurexp|euxassay_000055|cerebral cortex, olfactory lobe	OMIM|602920;COSMIC||AML
U4	MED6	0.656290585	3.90E-11	Transcription regulatory protein	BrainSpLMD|10001;Eurexp|euxassay_003411|brain, incisor, liver, lung, metanephros, midgut, molar, olfactory, pancreas, pharyngo-tympanic tube, respiratory, submandibular gland primordium, thymus primordium, tongue, ventricular layer, vibrissa;BrainSpMouseDev|45633	OMIM|602984
U4	ATG9A	0.914731499	4.07E-11	Integral membrane protein	BrainSpLMD|79065	OMIM|612204
U4	SHARPIN	1.476114592	4.14E-11	Unclassified	BrainSpLMD|81858	OMIM|611885
U4	FGD1	0.534237461	4.24E-11	Guanine nucleotide exchange factor	BrainSpLMD|2245;Eurexp|euxassay_003476|arm, axial skeleton, incisor, leg, lung, metanephros, molar, paraxial mesenchyme, submandibular gland primordium, upper arm	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300546;HPO|2245|Anteverted nares, Attention deficit hyperactivity disorder, Brachydactyly, Broad foot, Broad forehead, Broad palm, Broad philtrum, Camptodactyly of finger, Cervical spine hypermobility, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Cognitive impairment, Cryptorchidism, Curved linear dimple below the lower lip, Delayed puberty, Downslanted palpebral fissures, Everted lower lip vermilion, External ear malformation, Failure to thrive, Finger syndactyly, High anterior hairline, Hyperextensibility of the finger joints, Hyperextensible skin, Hypermetropia, Hypertelorism, Hypodontia, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Increased upper to lower segment ratio, Inguinal hernia, Intellectual disability, Joint hyperflexibility, Large earlobe, Long philtrum, Low-set, posteriorly rotated ears, Mild short stature, Pectus excavatum, Prominent umbilicus, Ptosis, Radial deviation of finger, Round face, Scoliosis, Shawl scrotum, Short foot, Short neck, Short nose, Short palm, Short stature, Single transverse palmar crease, Small hand, Strabismus, Syndactyly, Umbilical hernia, Wide nasal bridge, Widow's peak, X-linked recessive inheritance
U4	ABCC4	1.006387173	4.38E-11	Transport/cargo protein	BrainSpLMD|10257	OMIM|605250
U4	PPIL2	0.904405744	4.46E-11	Chaperone	BrainSpLMD|23759	OMIM|607588
U4	NOC2L	0.961140884	4.85E-11	Unclassified	BrainSpLMD|26155	OMIM|610770
U4	N4BP1	0.353701149	5.15E-11		BrainSpLMD|9683	
U4	FBXW11	0.828983538	5.21E-11	Ubiquitin proteasome system protein	BrainSpLMD|23291;Eurexp|euxassay_007268|embryo	OMIM|605651
U4	KMT2A	0.362164487	5.27E-11	Transcription factor	BrainSpLMD|4297	SFARI||Autism, 1 - High confidence;OMIM|159555;COSMIC||AML, ALL;HPO|4297|Abnormally low-pitched voice, Aggressive behavior, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Blepharophimosis, Brachycephaly, Broad-based gait, Clinodactyly of the 5th finger, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Downslanted palpebral fissures, Downturned corners of mouth, Elbow dislocation, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Flat face, Gastroesophageal reflux, Generalized hirsutism, Generalized hypotonia, High palate, Highly arched eyebrow, Hypertelorism, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phthisis bulbi, Premature birth, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short middle phalanx of finger, Short neck, Short nose, Short stature, Short toe, Sleep disturbance, Small hand, Strabismus, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Vesicoureteral reflux, Wide nose, Widely spaced teeth
U4	CTSD	4.680118939	5.68E-11	Aspartic protease	BrainSpLMD|1509;Eurexp|euxassay_000816|embryo	OMIM|116840;HPO|1509|Abnormality of metabolism/homeostasis, Apnea, Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Congenital onset, Increased neuronal autofluorescent lipopigment, Intellectual disability, progressive, Intellectual disability, severe, Low-set ears, Mental deterioration, Microcephaly, Neuronal loss in central nervous system, Premature closure of fontanelles, Respiratory failure, Retinal atrophy, Rigidity, Rod-cone dystrophy, Sloping forehead, Spasticity, Status epilepticus, Visual loss, Wide nasal bridge
U4	WRNIP1	0.78564121	5.89E-11	ATPase	BrainSpLMD|56897;Eurexp|euxassay_000163|Meckel's cartilage, basisphenoid bone, clavicle, ethmoid bone primordium, external, extrinsic, facial bones primordia, footplate, glossopharyngeal IX, handplate, intrinsic, labyrinth, limb, mesenchyme, naris, otic capsule, primary choana, skeletal muscle, submandibular gland primordium, thymus primordium, tongue, trigeminal V, turbinate, turbinate bones, vagus X, vestibulocochlear VIII	OMIM|608196
U4	GPX7	0.847768336	5.93E-11	Enzyme: Peroxidase	BrainSpLMD|2882;Eurexp|euxassay_018909|alimentary system, alveolar sulcus, anterior, arachnoid mater, associated mesenchyme, axial skeleton, central nervous system, cerebral cortex, cervical region, choroid invagination, choroid plexus, clavicle, dermal component, dermis, duodenum, dura mater, embryo, epidermal component, epidermis, epithelium, external, foregut, foregut-midgut junction, fundus, gut, hindgut, intervertebral disc, intrinsic, lip, lower jaw, lumbar region, mandible, masseter, meninges, mesenchyme, midgut, naris, nasal cavity, nose, nucleus pulposus, olfactory, palatal shelf, pectoral girdle and thoracic body wall, physiological umbilical hernia, pia mater, pineal primordium, respiratory, rest of midgut, rest of skin, rib, rostral part, scapula, skeleton, stomach, temporal bone, thoracic region, transverse component, turbinate bones, upper jaw, vertebral axis muscle system, vertebral cartilage condensation, vertical component, vibrissa, visceral organ	OMIM|615784
U4	C9orf64	1.274336665	6.10E-11	Unclassified	BrainSpLMD|84267	OMIM|611342
U4	ARHGEF4	1.853119977	6.18E-11	Guanine nucleotide exchange factor	BrainSpLMD|50649	OMIM|605216
U4	PIAS2	0.467433632	6.58E-11	Transcription regulatory protein	BrainSpLMD|9063	OMIM|603567
U4	EPHB2	0.416156735	6.59E-11	Receptor tyrosine kinase	BrainSpLMD|2048;Eurexp|euxassay_018956|mandible, marginal layer, mesenchyme, rib, ventricular layer;BrainSpMouseDev|13622	SFARI||Autism, No category;OMIM|600997
U4	ZNF491	0.816945605	6.66E-11	DNA binding protein	BrainSpLMD|126069	
U4	POU6F1	0.479462736	6.86E-11	Transcription factor	Eurexp|euxassay_005193|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, limb, metanephros, skeleton, spinal cord, testis, thoracic, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|18772	
U4	RPL10A	0.852318078	7.10E-11	Ribosomal subunit		OMIM|615660
U4	HSP90AA1	1.025309323	7.12E-11	Chaperone	BrainSpLMD|3320;Eurexp|euxassay_010007|cervical, cervico-thoracic, choroid plexus, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, mandible, mantle layer, midgut, molar, neural retina, olfactory, pancreas, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, vagus X, ventral grey horn, ventricular layer, vomeronasal organ	OMIM|140571;COSMIC||NHL
U4	EWSR1	0.56197211	7.38E-11	RNA binding protein	BrainSpLMD|2130	OMIM|133450;COSMIC||Ewing sarcoma, desmoplastic small round cell tumour, ALL, clear cell sarcoma, sarcoma, myoepithelioma, mesothelioma;HPO|2130|Abdominal distention, Abdominal pain, Abnormality of the peritoneum, Ewing's sarcoma, Hepatomegaly, Ileus, Mediastinal lymphadenopathy, Nausea and vomiting, Sarcoma, Somatic mutation
U4	MTMR7	0.274626683	7.71E-11	Tyrosine phosphatase	Eurexp|euxassay_003206|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, foregut-midgut junction, glossopharyngeal IX, hindbrain, hindgut, incisor, lung, mantle layer, marginal layer, midbrain, midgut, molar, nucleus pulposus, olfactory, pancreas, pituitary, rectum, spinal cord, stomach, stroma, thoracic, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|603562
U4	KLF6	0.301190713	8.16E-11	Transcription factor	BrainSpLMD|1316;Eurexp|euxassay_018886|mantle layer, marginal layer;BrainSpMouseDev|23602	OMIM|602053;COSMIC||prostate, glioma;HPO|1316|Autosomal dominant inheritance, Prostate cancer, Somatic mutation, Stomach cancer
U4	PHRF1	1.00413165	8.19E-11	Unclassified		SFARI||Autism, 3 - Suggestive evidence;OMIM|611780
U4	DHX36	0.348229563	8.25E-11	RNA binding protein	BrainSpLMD|170506	OMIM|612767
U4	SDF4	2.456625734	8.26E-11	Calcium binding protein	BrainSpLMD|51150	OMIM|614282
U4	TIMM10B	0.415978484	8.72E-11	Membrane transport protein	BrainSpLMD|26515	OMIM|607388
U4	NUDT2	1.27364918	9.19E-11	Enzyme: Hydrolase	BrainSpLMD|318;Eurexp|euxassay_005082|ventricular layer	OMIM|602852
U4	CREBBP	0.277347059	9.32E-11	Transcription regulatory protein	BrainSpLMD|1387;BrainSpMouseDev|12697	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600140;COSMIC||ALL, AML, DLBCL, B-NHL, Rubinstein-Taybi syndrome;HPO|1387|Abnormal number of teeth, Abnormality of refraction, Abnormality of the cervical spine, Abnormality of the cornea, Abnormality of the kidney, Abnormality of the pinna, Aganglionic megacolon, Agenesis of corpus callosum, Agoraphobia, Arrhythmia, Atrial septal defect, Autism, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Bifid uterus, Bimanual synkinesia, Broad hallux, Broad thumb, Cafe-au-lait spot, Capillary hemangiomas, Cataract, Chorioretinal dystrophy, Clinodactyly of the 5th finger, Coloboma, Constipation, Convex nasal ridge, Cryptorchidism, Deeply set eye, Delayed cranial suture closure, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Dental malocclusion, Deviated nasal septum, Dislocated radial head, Downslanted palpebral fissures, Duane anomaly, Duplication of phalanx of hallux, EEG abnormality, Epicanthus, Facial grimacing, Failure to thrive, Feeding difficulties in infancy, Flared iliac wings, Flexion contracture, Frontal bossing, Frontal upsweep of hair, Generalized hypotonia, Glaucoma, Hearing impairment, Heterogeneous, High axial triradius, High palate, Highly arched eyebrow, Hirsutism, Hyperactivity, Hyperreflexia, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Hypoplastic iliac wing, Hypospadias, Impulsivity, Intellectual disability, Joint hypermobility, Joint laxity, Keloids, Large foramen magnum, Laryngomalacia, Long eyelashes, Low anterior hairline, Low hanging columella, Low posterior hairline, Low-set ears, Microcephaly, Micrognathia, Muscular hypotonia, Narrow mouth, Narrow palate, Nasolacrimal duct obstruction, Obstructive sleep apnea, Papillary cystadenoma of the epididymis, Parietal foramina, Patellar dislocation, Patent ductus arteriosus, Pectus excavatum, Pes planus, Phonophobia, Plantar crease between first and second toes, Polydactyly, Polyhydramnios, Poor coordination, Postnatal growth retardation, Premature thelarche, Prominent fingertip pads, Proptosis, Ptosis, Radial deviation of thumb terminal phalanx, Recurrent upper respiratory tract infections, Respiratory distress, Retrognathia, Scoliosis, Seizures, Self-mutilation, Shawl scrotum, Short attention span, Short stature, Single transverse palmar crease, Spina bifida occulta, Sporadic, Stereotypy, Strabismus, Syndactyly, Talon cusp, Tethered cord, Thick eyebrow, Truncal obesity, Unsteady gait, Variable expressivity, Vascular ring, Ventricular septal defect, Wide anterior fontanel, Wide nasal bridge
U4	PHKA2	0.746014493	9.38E-11	Enzyme: Phosphotransferase	BrainSpLMD|5256	OMIM|300798;HPO|5256|Elevated hepatic transaminases, Growth delay, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Ketosis, Motor delay, X-linked recessive inheritance
U4	RAB1A	0.505095813	9.56E-11	GTPase	BrainSpLMD|5861	OMIM|179508
U4	KIF16B	0.917131645	9.60E-11	Membrane transport protein	BrainSpLMD|55614	
U4	CDC73	0.288015577	1.01E-10	Unclassified	BrainSpLMD|79577	OMIM|607393;COSMIC||parathyroid adenoma, parathyroid adenoma, multiple ossifying jaw fibroma;HPO|79577|Autosomal dominant inheritance, Chondrocalcinosis, Dysphagia, Elevated circulating parathyroid hormone level, Fatigue, Fibroma, Generalized osteoporosis, Hoarse voice, Hypercalcemia, Hypercalciuria, Hyperparathyroidism, Hyperphosphaturia, Hypophosphatemia, Infantile hypercalcemia, Nephrocalcinosis, Nephrolithiasis, Osteopenia, Osteoporosis, Parathyroid adenoma, Parathyroid carcinoma, Polydipsia, Primary hyperparathyroidism, Shortened QT interval, Somatic mutation, Uterine leiomyoma, Weight loss
U4	EVC	1.552090702	1.01E-10	Unclassified	BrainSpLMD|2121	OMIM|604831;HPO|2121|Abnormality of oral frenula, Abnormality of oral mucosa, Abnormality of pelvic girdle bone morphology, Abnormality of the alveolar ridges, Abnormality of the antihelix, Abnormality of the fingernails, Abnormality of the heart valves, Acetabular spurs, Advanced eruption of teeth, Aplasia/Hypoplasia of the lungs, Atrial septal defect, Atrioventricular canal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Brachydactyly, Capitate-hamate fusion, Cleft upper lip, Clinodactyly of the 5th finger, Common atrium, Cone-shaped epiphyses of phalanges 2 to 5, Conical incisor, Conical tooth, Cryptorchidism, Dandy-Walker malformation, Delayed eruption of teeth, Ectodermal dysplasia, Epispadias, Facial cleft, Failure to thrive, Foot polydactyly, Genu valgum, Hand polydactyly, Horizontal ribs, Hypodontia, Hypoplastic iliac wing, Hypoplastic toenails, Hypospadias, Hypotelorism, Intrauterine growth retardation, Microdontia, Micromelia, Mild short stature, Nail dysplasia, Nail dystrophy, Narrow chest, Natal tooth, Neonatal short-limb short stature, Overlapping fingers, Pectus carinatum, Postaxial foot polydactyly, Postaxial hand polydactyly, Prominent antihelix, Short distal phalanx of finger, Short long bone, Short palm, Short ribs, Short thorax, Single median maxillary incisor, Situs inversus totalis, Small hand, Small nail, Strabismus, Talipes equinovarus, Toenail dysplasia, Ventricular septal defect
U4	SNX14	0.48609466	1.02E-10	Transport/cargo protein	BrainSpLMD|57231	SFARI||Autism, No category;OMIM|616105;HPO|57231|Anteverted nares, Apraxia, Ataxia, Autistic behavior, Autosomal recessive inheritance, Babinski sign, Brachydactyly, Broad face, Broad philtrum, Camptodactyly, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral cortical atrophy, Clinodactyly, Coarse facial features, Delayed eruption of teeth, Dental crowding, Epicanthus, Generalized hypotonia, Global developmental delay, High palate, Hyporeflexia, Inability to walk, Infantile onset, Long philtrum, Prominent forehead, Relative macrocephaly, Short palpebral fissure, Spasticity, Talipes equinovarus, Thick vermilion border, Wide nasal base
U4	BRPF3	0.701946096	1.12E-10	DNA binding protein	Eurexp|euxassay_014369|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, brain, clavicle, femur, fibula, humerus, hyoid bone, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rest of mesenchyme, rib, scapula, spinal cord, tibia, turbinate bones;BrainSpMouseDev|92623	OMIM|616856
U4	FAM21C	0.592824066	1.13E-10			
U4	REEP3	2.318170464	1.14E-10	Unclassified	BrainSpLMD|221035;Eurexp|euxassay_004457|digit 1, digit 2, digit 3, digit 4, digit 5, footplate, handplate, lower leg, trigeminal V, valve, ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|609348
U4	OTUD5	1.008906368	1.14E-10	Cysteine protease	BrainSpLMD|55593	OMIM|300713
U4	KDM2B	0.528811622	1.15E-10	Ubiquitin proteasome system protein	BrainSpLMD|84678;Eurexp|euxassay_017516|metanephros	OMIM|609078
U4	KDM4B	1.315773825	1.15E-10	Unclassified	BrainSpLMD|23030;Eurexp|euxassay_009148|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, 4 - Minimal evidence;OMIM|609765
U4	RNF7	0.613624236	1.15E-10	Enzyme: Ligase	BrainSpLMD|9616	OMIM|603863
U4	SH3GL1	0.391004295	1.16E-10	Unclassified	BrainSpLMD|6455;Eurexp|euxassay_000588|chondrocranium	OMIM|601768;COSMIC||AL
U4	TSTD2	0.624557751	1.18E-10	Unclassified	BrainSpLMD|158427	
U4	PKD1	1.201310343	1.23E-10	Integral membrane protein	BrainSpLMD|5310;BrainSpMouseDev|18527	OMIM|601313;HPO|5310|Autosomal dominant inheritance, Colonic diverticula, Hepatic cysts, Hypertension, Polycystic kidney dysplasia, Renal insufficiency
U4	AFAP1	0.372090934	1.32E-10	Adapter molecule	BrainSpLMD|60312	OMIM|608252
U4	ATF3	1.045258203	1.35E-10	Transcription regulatory protein	BrainSpLMD|467;Eurexp|euxassay_006681|femur, humerus, ventricle;BrainSpMouseDev|11697	OMIM|603148
U4	SORCS3	0.775527112	1.36E-10	Cell surface receptor	BrainSpLMD|22986;Eurexp|euxassay_013842|mantle layer, marginal layer	OMIM|606285
U4	OSBPL10	0.603975816	1.38E-10	Transport/cargo protein	BrainSpLMD|114884;Eurexp|euxassay_008182|dorsal root ganglion, glossopharyngeal IX, mantle layer, testis, trigeminal V, ventral grey horn	OMIM|606738
U4	CTNNAL1	2.075619922	1.39E-10	Unclassified	BrainSpLMD|8727	OMIM|604785
U4	NFXL1	0.457965491	1.43E-10	Transcription factor	BrainSpLMD|152518;BrainSpMouseDev|65148	
U4	MAP4K5	0.299727114	1.47E-10	Serine/threonine kinase	BrainSpLMD|11183	OMIM|604923
U4	ST13P5	0.735020685	1.55E-10	-		
U4	DYRK1A	0.283517475	1.55E-10	Serine/threonine kinase	BrainSpLMD|1859	SFARI||Autism, 1 - High confidence;OMIM|600855;HPO|1859|Ataxia, Autism, Autosomal dominant inheritance, Bulbous nose, Cerebral cortical atrophy, Deeply set eye, Delayed speech and language development, Failure to thrive in infancy, Febrile seizures, Gait disturbance, Generalized hypotonia, Hallux valgus, Hyperactivity, Hypotelorism, Intellectual disability, severe, Intrauterine growth retardation, Macrotia, Microcephaly, Micrognathia, Narrow forehead, Severe global developmental delay, Small for gestational age, Thickened helices
U4	DOCK5	0.455395602	1.65E-10	Unclassified	BrainSpLMD|80005;Eurexp|euxassay_014244|cortex	OMIM|616904
U4	SRSF4	0.313283364	1.70E-10	RNA binding protein	BrainSpLMD|6429	OMIM|601940
U4	FBXO31	0.944185009	1.75E-10	Unclassified	BrainSpLMD|79791	OMIM|609102;HPO|79791|Autosomal recessive inheritance, Coarse facial features, Deeply set eye, Intellectual disability, Prominent supraorbital ridges, Thick eyebrow, Wide nasal bridge
U4	AACS	0.253711701	1.83E-10	Enzyme: Ligase	BrainSpLMD|65985;Eurexp|euxassay_005036|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, stroma, thymus primordium, trigeminal V, vagus X	OMIM|614364
U4	PDCD7	0.458519779	1.85E-10	DNA binding protein	BrainSpLMD|10081;Eurexp|euxassay_000698|Meckel's cartilage, chondrocranium, incisor, molar, submandibular gland primordium, ventricular layer, vibrissa	OMIM|608138
U4	TTC39B	0.734316232	1.89E-10	Unclassified	BrainSpLMD|158219;Eurexp|euxassay_006376|olfactory	OMIM|613574
U4	ZSCAN18	0.53698451	1.93E-10	Transcription factor	BrainSpLMD|65982	
U4	PI4KAP2	1.369362203	2.09E-10			
U4	STK40	0.876563421	2.15E-10	Serine/threonine kinase	BrainSpLMD|83931;Eurexp|euxassay_004092|epidermis, incisor, molar, oesophagus, oral epithelium, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, vibrissa	OMIM|609437
U4	TOP2B	0.657724691	2.16E-10	Enzyme: Topoisomerase	BrainSpLMD|7155	OMIM|126431
U4	LPPR2	1.205012369	2.16E-10			
U4	DDB2	0.808704329	2.17E-10	DNA binding protein	BrainSpLMD|1643	OMIM|600811;COSMIC||skin basal cell, skin squamous cell, melanoma;HPO|1643|Abnormality of the dentition, Arthralgia, Autosomal recessive inheritance, Basal cell carcinoma, Cataract, Cognitive impairment, Conjunctival telangiectasia, Conjunctivitis, Cryptorchidism, Cutaneous photosensitivity, Defective DNA repair after ultraviolet radiation damage, Dermal atrophy, Developmental regression, Dry skin, EEG abnormality, Ectropion, Entropion, Erythema, Failure to thrive, Fatigue, Fever, Freckling, Hyperkeratosis, Hypermelanotic macule, Hypogonadism, Hypopigmented skin patches, Intellectual disability, progressive, Keratitis, Melanoma, Optic atrophy, Papilloma, Photophobia, Poikiloderma, Sensorineural hearing impairment, Squamous cell carcinoma of the skin, Strabismus, Telangiectasia, Telangiectasia of the skin, Thin skin
U4	KIF1B	0.292564195	2.25E-10	Motor protein	BrainSpLMD|23095;Eurexp|euxassay_013179|diaphragm, floor plate, floorplate, footplate, handplate, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, ventricular layer, vertebral axis muscle system	OMIM|605995;HPO|23095|Areflexia, Autosomal dominant inheritance, Axonal degeneration/regeneration, Cafe-au-lait spot, Cerebral hemorrhage, Congenital cataract, Congestive heart failure, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Elevated urinary norepinephrine, Episodic hypertension, Foot dorsiflexor weakness, Hammertoe, Hemangioma, Heterogeneous, Hypercalcemia, Hyperhidrosis, Hypertensive retinopathy, Hyporeflexia, Neoplasm, Onion bulb formation, Onset, Peripheral axonal atrophy, Pes cavus, Pheochromocytoma, Positive regitine blocking test, Proteinuria, Renal artery stenosis, Slow progression, Steppage gait, Tachycardia
U4	KHDRBS1	0.283674158	2.28E-10	RNA binding protein	BrainSpLMD|10657	OMIM|602489
U4	CCT6P1	0.310282252	2.29E-10			
U4	PDIA6	0.337294337	2.39E-10	Enzyme: Isomerase	BrainSpLMD|10130	OMIM|611099
U4	ANKRD13A	0.429301194	2.60E-10	Unclassified	BrainSpLMD|88455	OMIM|615123
U4	MZT2A	2.363553586	2.75E-10	Unclassified	BrainSpLMD|653784	OMIM|613449
U4	EFCAB6	0.879311179	2.81E-10	Calcium binding protein	BrainSpLMD|64800	
U4	TNFRSF10B	1.445814191	2.89E-10	Cell surface receptor	BrainSpLMD|8795	OMIM|603612;HPO|8795|Autosomal recessive inheritance, Squamous cell carcinoma
U4	EP400	0.27942236	2.92E-10	DNA binding protein	BrainSpLMD|57634	SFARI||Autism, 3 - Suggestive evidence;OMIM|606265
U4	NARS2	0.290308544	2.95E-10	Enzyme: Ligase	BrainSpLMD|79731	OMIM|612803;HPO|79731|Agenesis of corpus callosum, Autosomal recessive inheritance, Cortical visual impairment, Elevated serum creatine phosphokinase, Facial palsy, Feeding difficulties, Focal segmental glomerulosclerosis, Generalized hypotonia, Gliosis, Increased serum lactate, Microcephaly, Muscular hypotonia, Myopathy, Neurodegeneration, Neuronal loss in central nervous system, Nystagmus, Optic atrophy, Phenotypic variability, Proximal muscle weakness, Ptosis, Skeletal muscle atrophy, Spasticity
U4	RNU6.681P	0.844449557	3.05E-10			
U4	HEBP2	0.919290685	3.07E-10	Unclassified	BrainSpLMD|23593	OMIM|605825
U4	BZW1	0.253710488	3.10E-10	Transcription factor	BrainSpLMD|9689	
U4	RP1.39G22.7	0.824432897	3.12E-10			
U4	BCL7C	1.12621765	3.33E-10	Unclassified	BrainSpLMD|9274	OMIM|605847
U4	LRP1B	0.412099463	3.40E-10	Cell surface receptor	BrainSpLMD|53353;Eurexp|euxassay_013815|floor plate, floorplate, roof plate	OMIM|608766;COSMIC||CLL, ovarian cancer, oesophageal squamous cell carcinoma, urothelial cancer
U4	CDADC1	0.725926507	3.41E-10	Enzyme: Hydrolase	BrainSpLMD|81602	
U4	NDUFB10	1.218537355	3.57E-10	Enzyme: Oxidoreductase	BrainSpLMD|4716	OMIM|603843;HPO|4716|Abnormal mitochondria in muscle tissue
U4	ADCY3	0.628645344	3.76E-10	Adenylate cyclase	BrainSpLMD|109;Eurexp|euxassay_018616|facial VII, olfactory, trigeminal V, ventral grey horn	SFARI||Autism, 3 - Suggestive evidence;OMIM|600291
U4	RPS6KA3	0.506290677	3.87E-10	Serine/threonine kinase	BrainSpLMD|6197	SFARI||Autism, 4 - Minimal evidence;OMIM|300075;HPO|6197|Abnormal diaphysis morphology, Abnormal form of the vertebral bodies, Abnormality of dental morphology, Anteverted nares, Bifid sternum, Brachydactyly, Broad finger, Broad nasal tip, Broad palm, Coarse facial features, Coarse hair, Coxa valga, Craniofacial hyperostosis, Cutis laxa, Cutis marmorata, Decreased body weight, Delayed closure of the anterior fontanelle, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Dental malocclusion, Depressed nasal bridge, Downslanted palpebral fissures, Drumstick terminal phalanges, Epicanthus, Everted lower lip vermilion, Feeding difficulties in infancy, Frontal bossing, Gait disturbance, Generalized hypotonia, High palate, Highly arched eyebrow, Hyperconvex fingernails, Hyperextensibility of the finger joints, Hypertelorism, Hypodontia, Hypoplasia of the maxilla, Hypoplastic fingernail, Inguinal hernia, Intellectual disability, Joint hyperflexibility, Kyphoscoliosis, Kyphosis, Large hands, Long foot, Lumbar kyphosis, Mandibular prognathia, Microcephaly, Mitral regurgitation, Motor delay, Muscular hypotonia, Narrow iliac wings, Narrow palate, Neurological speech impairment, Open mouth, Pectus carinatum, Pectus excavatum, Pes planus, Progressive spasticity, Prominent forehead, Prominent supraorbital ridges, Protruding ear, Pseudoepiphyses of the metacarpals, Rectal prolapse, Redundant skin, Scoliosis, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Short distal phalanx of finger, Short metacarpal, Short stature, Single transverse palmar crease, Sporadic, Tapered finger, Telecanthus, Thick eyebrow, Thick lower lip vermilion, Thick nasal alae, Thick nasal septum, Thickened calvaria, Uterine prolapse, Ventriculomegaly, Wide mouth, Wide nose, Widely spaced teeth, X-linked dominant inheritance
U4	HLCS	0.526881396	3.96E-10	Enzyme: Ligase	BrainSpLMD|3141	OMIM|609018;HPO|3141|Alopecia, Anorexia, Autosomal recessive inheritance, Coma, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hyperammonemia, Hypertonia, Hyperventilation, Irritability, Keratoconjunctivitis, Lethargy, Metabolic acidosis, Muscular hypotonia, Nausea and vomiting, Organic aciduria, Perioral eczema, Respiratory distress, Seizures, Skin rash, Tachypnea, Thrombocytopenia, Vomiting, Weight loss
U4	BBS1	1.625376098	3.97E-10	Unclassified	BrainSpLMD|582	OMIM|209901;HPO|582|Abnormal electroretinogram, Asthma, Ataxia, Autosomal recessive inheritance, Biliary tract abnormality, Brachydactyly, Broad foot, Congenital primary aphakia, Decreased testicular size, Delayed speech and language development, Dental crowding, Diabetes mellitus, Foot polydactyly, Gait imbalance, Global developmental delay, Hepatic fibrosis, High, narrow palate, Hirsutism, Hypertension, Hypodontia, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Left ventricular hypertrophy, Multicystic kidney dysplasia, Nephrogenic diabetes insipidus, Neurological speech impairment, Nystagmus, Obesity, Pigmentary retinopathy, Poor coordination, Postaxial hand polydactyly, Radial deviation of finger, Retinal degeneration, Short foot, Short stature, Specific learning disability, Strabismus, Syndactyly
U4	INTS6	1.086527298	4.30E-10	RNA binding protein	BrainSpLMD|26512	SFARI||Autism, 2 - Strong candidate;OMIM|604331
U4	AFF2	0.879107448	4.31E-10	Transcription regulatory protein	BrainSpLMD|2334	SFARI||Autism, 4 - Minimal evidence;OMIM|300806;HPO|2334|Abnormality of metabolism/homeostasis, Aggressive behavior, Agitation, Delayed speech and language development, Epicanthus, Hyperactivity, Impulsivity, Intellectual disability, Obsessive-compulsive behavior, Prominent nasal bridge, X-linked recessive inheritance
U4	LARS	0.293055976	4.46E-10	Enzyme: Ligase	BrainSpLMD|51520;Eurexp|euxassay_012121|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, tibia, turbinate bones	OMIM|151350;HPO|51520|Abnormality of the coagulation cascade, Acute hepatic failure, Anemia, Autosomal recessive inheritance, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hepatomegaly, Lactic acidosis, Macrocytic anemia, Microcephaly, Seizures
U4	MPRIP	0.579036922	4.52E-10	Cytoskeletal associated protein	BrainSpLMD|23164;Eurexp|euxassay_001470|brain, cervical, cervico-thoracic, dorsal root ganglion, spinal cord, thoracic	OMIM|612935
U4	ANKRD44.IT1	1.077337145	4.62E-10			
U4	ZNF90	1.180750397	4.63E-10	Transcription regulatory protein		OMIM|603973
U4	MEX3D	0.584177117	4.73E-10	RNA binding protein	BrainSpLMD|399664	OMIM|611009
U4	RP11.214K3.19	0.3349579	4.76E-10			
U4	RASSF1	0.951879046	4.83E-10	Cytoskeletal associated protein	BrainSpLMD|11186	OMIM|605082;HPO|11186|Alveolar cell carcinoma, Autosomal recessive inheritance
U4	SF3B2	0.381511283	4.99E-10	RNA binding protein	BrainSpLMD|10992	OMIM|605591
U4	GDE1	0.746739017	5.10E-10	Anchor protein	BrainSpLMD|51573;Eurexp|euxassay_003384|bladder, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, left lung, loop, midgut, neural retina, olfactory, rectum, respiratory, right lung, stomach, stroma, thoracic, trigeminal V, urethra, vagus X, vestibulocochlear VIII	OMIM|605943
U4	IKZF4	0.32876913	5.21E-10	Transcription factor	BrainSpLMD|64375	OMIM|606239
U4	CEP41	1.405923198	5.26E-10	Unclassified	BrainSpLMD|95681;Eurexp|euxassay_000172|muscle	SFARI||Autism, 3 - Suggestive evidence;OMIM|610523;HPO|95681|Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Cerebellar vermis hypoplasia, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Intellectual disability, Long face, Micropenis, Molar tooth sign on MRI, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Polydactyly, Retinal dystrophy
U4	FAM98A	0.674549195	5.35E-10	Unclassified	BrainSpLMD|25940	
U4	SMARCA4	0.356463616	5.78E-10	Transcription factor	BrainSpLMD|6597;Eurexp|euxassay_019506|cervical, cervico-thoracic, clavicle, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, incisor, lung, metanephros, midbrain, midgut, molar, neural retina, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, spinal cord, stomach, submandibular gland primordium, telencephalon, testis, thoracic, thymus primordium, trachea, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ;BrainSpMouseDev|20348	SFARI||Autism, 3 - Suggestive evidence;OMIM|603254;COSMIC||NSCLC, SCCOHT;HPO|6597|Abnormality of cardiovascular system morphology, Abnormality of the corpus callosum, Abnormality of the dentition, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Autosomal dominant inheritance, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Delayed skeletal maturation, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Feeding difficulties, Feeding difficulties in infancy, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hearing impairment, Hypertrichosis, Hypoplastic fifth fingernail, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Macroglossia, Microcephaly, Muscular hypotonia, Nystagmus, Recurrent respiratory infections, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Slow-growing hair, Strabismus, Thick eyebrow, Thick lower lip vermilion, Thick nasal alae, Wide mouth, Wide nasal bridge, Wide nose
U4	FARSA	0.345490707	5.88E-10	Enzyme: Ligase	BrainSpLMD|2193;Eurexp|euxassay_012957|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|602918
U4	ADNP2	0.254216115	5.90E-10	DNA binding protein	BrainSpLMD|22850;BrainSpMouseDev|88720	OMIM|617422
U4	ACSS3	1.067923236	6.14E-10	Unclassified	BrainSpLMD|79611	OMIM|614356
U4	DDX55	0.54927481	6.18E-10	RNA helicase	BrainSpLMD|57696	
U4	RPL41	1.903003483	6.20E-10	Unclassified	BrainSpLMD|6171	OMIM|613315
U4	LRRN1	0.575770518	6.29E-10	Integral membrane protein	BrainSpLMD|57633;Eurexp|euxassay_000278|cochlea, dorsal root ganglion, head mesenchyme, limb, lip, mantle layer, marginal layer, mesenchyme, olfactory, tail, trigeminal V, ventricular layer, vertebral axis muscle system, vibrissa	
U4	GNAI2	0.854815399	6.49E-10	GTPase;G protein	BrainSpLMD|2771;Eurexp|euxassay_018077|submandibular gland primordium, ventricular layer, vibrissa	OMIM|139360;HPO|2771|Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Paroxysmal ventricular tachycardia, Sudden cardiac death
U4	GPX1	1.410049728	6.56E-10	Enzyme: Peroxidase	BrainSpLMD|2876;BrainSpMouseDev|14551	SFARI||Autism, 4 - Minimal evidence;OMIM|138320;HPO|2876|Autosomal recessive inheritance, Compensated hemolytic anemia, Neonatal hyperbilirubinemia
U4	C14orf159	0.649440425	6.93E-10			
U4	NKX2.1	0.517537838	7.24E-10			
U4	DCHS1	1.172420462	7.66E-10	Adhesion molecule	BrainSpLMD|8642	OMIM|603057;HPO|8642|Age-dependent penetrance, Anal atresia, Anteriorly placed anus, Atresia of the external auditory canal, Autosomal dominant inheritance, Autosomal recessive inheritance, Blepharophimosis, Clinodactyly, Conductive hearing impairment, Congenital onset, Cortical gyral simplification, Cutaneous finger syndactyly, Dental malocclusion, Downturned corners of mouth, Epicanthus, Feeding difficulties, Generalized hypotonia, Growth delay, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypospadias, Intellectual disability, Irregular dentition, Joint laxity, Malar flattening, Micrognathia, Microtia, Midface retrusion, Mitral regurgitation, Mitral valve prolapse, Narrow chest, Narrow forehead, Osteopenia, Pachygyria, Ptosis, Renal hypoplasia, Sacral dimple, Scoliosis, Sensorineural hearing impairment, Short 4th metacarpal, Short clavicles, Short fourth metatarsal, Short palpebral fissure, Skeletal dysplasia, Talipes equinovarus, Tented upper lip vermilion, Tracheomalacia, Wide anterior fontanel, Wide cranial sutures, Wide nasal bridge
U4	RNASEH1	0.575275465	7.73E-10	Ribonuclease	BrainSpLMD|246243	OMIM|604123;HPO|246243|Autosomal recessive inheritance, Cerebellar atrophy, Dysarthria, Dysphagia, Exercise intolerance, Increased serum lactate, Postural instability, Progressive, Progressive external ophthalmoplegia, Ptosis, Skeletal muscle atrophy, Unsteady gait
U4	POLL	1.04099453	7.74E-10	DNA polymerase	BrainSpLMD|27343	OMIM|606343
U4	RGPD5	1.050035962	7.87E-10	Transport/cargo protein		OMIM|612708
U4	MAP3K12	1.51134011	7.91E-10	Serine/threonine kinase	BrainSpLMD|7786	OMIM|600447
U4	H3F3A	0.507917436	8.29E-10	DNA binding protein		OMIM|601128;COSMIC||glioma
U4	SNHG7	1.89927459	8.51E-10		BrainSpLMD|84973	
U4	TMEM260	0.419587372	9.24E-10	Integral membrane protein	BrainSpLMD|54916	OMIM|617449;HPO|54916|Atrial septal defect, Autosomal recessive inheritance, Generalized edema, Interrupted aortic arch, Microcephaly, Partial anomalous pulmonary venous return, Persistent left superior vena cava, Renal cyst, Renal insufficiency, Right aortic arch, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect
U4	RP11.556K13.1	0.316795946	9.39E-10			
U4	SON	0.519794529	1.01E-09	Transcription factor	BrainSpLMD|6651;Eurexp|euxassay_007178|adrenal gland, cervical, cervico-thoracic, dorsal root ganglion, floorplate, glossopharyngeal IX, heart, mantle layer, medulla oblongata, metencephalon, oesophagus, olfactory lobe, thoracic, trigeminal V, vagus X, ventricular layer	OMIM|182465;HPO|6651|Abnormality of the dentition, Abnormality of the ribs, Arachnoid cyst, Autosomal dominant inheritance, Cerebellar hypoplasia, Cleft palate, Cortical visual impairment, Craniosynostosis, Deeply set eye, Depressed nasal bridge, Developmental regression, Downslanted palpebral fissures, Facial asymmetry, Failure to thrive, Feeding difficulties, Flexion contracture, Frontal bossing, Generalized hypotonia, Global developmental delay, Hemivertebrae, High palate, Horseshoe kidney, Hypermetropia, Hypoplasia of the corpus callosum, Intellectual disability, Joint hypermobility, Kyphosis, Low-set ears, Narrow mouth, Optic atrophy, Scoliosis, Short foot, Short philtrum, Short stature, Small hand, Strabismus, Thin upper lip vermilion, Ventriculomegaly, Wide nasal bridge
U4	RP11.785H5.2	0.457795111	1.02E-09			
U4	HADHAP1	0.988861992	1.04E-09			
U4	NANS	0.641880805	1.05E-09	Enzyme: Synthase	BrainSpLMD|54187;Eurexp|euxassay_012123|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, metatarsus, naris, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rest of skin, rib, scapula, tarsus, tibia, turbinate bones, vault of skull	OMIM|605202;HPO|54187|Abnormality of the pinna, Abnormality of the skin, Ataxia, Autosomal recessive inheritance, Brachycephaly, Carpal bone hypoplasia, Coarse facial features, Epicanthus, Flared metaphysis, Flat acetabular roof, Generalized hypotonia, Hirsutism, Intellectual disability, severe, Irregular epiphyses, Irregular vertebral endplates, Long fibula, Low anterior hairline, Low posterior hairline, Metaphyseal irregularity, Microcephaly, Narrow iliac wings, Nystagmus, Platyspondyly, Posterior scalloping of vertebral bodies, Prominent forehead, Short femoral neck, Short neck, Small epiphyses, Spondyloepimetaphyseal dysplasia, Synophrys, Thick lower lip vermilion, Wide nose
U4	CD27.AS1	0.678713467	1.09E-09			
U4	SRF	0.982112968	1.09E-09	Transcription factor	BrainSpLMD|6722;Eurexp|euxassay_019526|bladder, metanephros, submandibular gland primordium, urethra;BrainSpMouseDev|20569	OMIM|600589
U4	CDC42EP4	1.088333512	1.10E-09	Cytoskeletal protein	BrainSpLMD|23580;Eurexp|euxassay_003531|left lung, right lung, ventricular layer, vibrissa	OMIM|605468
U4	PYGL	1.15522211	1.13E-09	Enzyme: Phosphorylase	BrainSpLMD|5836	OMIM|613741;HPO|5836|Autosomal recessive inheritance, Hepatomegaly, Hyperlipidemia, Hypoglycemia, Increased hepatic glycogen content, Postnatal growth retardation, Short stature
U4	RP5.894A10.2	1.111663438	1.17E-09			
U4	ARID4B	0.859974743	1.17E-09	DNA binding protein	BrainSpLMD|51742	OMIM|609696
U4	NLGN2	1.058347168	1.18E-09	Integral membrane protein	BrainSpLMD|57555	SFARI||Autism, No category;OMIM|606479
U4	AP4E1	0.4515712	1.18E-09	Transport/cargo protein	BrainSpLMD|23431	OMIM|607244;HPO|23431|Abnormality of the voice, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Bulbous nose, Cerebellar atrophy, Cerebral cortical atrophy, Coarse facial features, Congenital onset, Decreased muscle mass, Downslanted palpebral fissures, Drooling, Facial hypotonia, Flexion contracture, Global developmental delay, Hyperreflexia, Intellectual disability, severe, Long nose, Microcephaly, Narrow face, Narrow forehead, Neonatal hypotonia, Nystagmus, Pointed chin, Prominent antihelix, Seizures, Short philtrum, Short stature, Spastic paraplegia, Spastic tetraplegia, Talipes equinovarus, Ventriculomegaly, Wide mouth, Wide nasal bridge
U4	STMN4	1.184973027	1.19E-09	Unclassified	BrainSpLMD|81551	
U4	FRG1B	1.371282069	1.30E-09			
U4	CCDC84	0.557042	1.35E-09	Unclassified	BrainSpLMD|338657	
U4	SNX29	0.265820154	1.40E-09	Unclassified		COSMIC||PMBL, Hodgkin lymphoma
U4	XKR6	0.979337139	1.45E-09	Integral membrane protein	BrainSpLMD|286046;Eurexp|euxassay_001951|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, midbrain, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	
U4	CAMLG	0.559065526	1.47E-09	Membrane bound ligand	BrainSpLMD|819;Eurexp|euxassay_001896|dorsal root ganglion, trigeminal V	OMIM|601118
U4	IGHMBP2	1.314942435	1.50E-09	Transcription factor	BrainSpLMD|3508	OMIM|600502;HPO|3508|Areflexia, Autosomal recessive inheritance, Axonal degeneration, Camptodactyly of finger, Constipation, Decreased fetal movement, Decreased nerve conduction velocity, Degeneration of anterior horn cells, Denervation of the diaphragm, Diaphragmatic eventration, Diaphragmatic paralysis, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, EMG: neuropathic changes, Failure to thrive, Foot dorsiflexor weakness, Hyperhidrosis, Hyporeflexia, Inspiratory stridor, Intrauterine growth retardation, Limb muscle weakness, Peripheral axonal degeneration, Premature birth, Respiratory failure, Slow progression, Small for gestational age, Spinal muscular atrophy, Steppage gait, Tachypnea, Talipes equinovarus, Urinary incontinence, Ventilator dependence with inability to wean, Weak cry
U4	VWCE	1.465705085	1.54E-09	Unclassified	BrainSpLMD|220001;Eurexp|euxassay_010171|left lung, mandible, maxilla, orbito-sphenoid, right lung	OMIM|611115
U4	ZNF189	0.514991642	1.61E-09	Transcription regulatory protein	BrainSpLMD|7743;BrainSpMouseDev|87008	OMIM|603132
U4	LINC00511	1.241101942	1.64E-09			
U4	CPSF1	0.68878069	1.67E-09	RNA binding protein	BrainSpLMD|29894	OMIM|606027
U4	BRE	0.490109566	1.69E-09			
U4	KDM5A	2.435061324	1.74E-09	Transcription regulatory protein	BrainSpLMD|5927;Eurexp|euxassay_011985|epithelium, oral epithelium, submandibular gland primordium, vibrissa	OMIM|180202;COSMIC||AML
U4	TAF8	0.601761141	1.75E-09	Transcription factor	BrainSpLMD|129685	OMIM|609514
U4	UFC1	0.359334837	1.86E-09	Unclassified	BrainSpLMD|51506;Eurexp|euxassay_000654|chondrocranium	OMIM|610554
U4	RWDD1	0.327138902	1.90E-09	Unclassified	BrainSpLMD|51389	
U4	ZNF597	0.556022946	1.90E-09	DNA binding protein	BrainSpLMD|146434	OMIM|614685
U4	APOO	0.63409825	1.92E-09	Unclassified	BrainSpLMD|79135;Eurexp|euxassay_008790|left, right	OMIM|300753
U4	GOLGA2	0.989696831	1.95E-09	Structural protein	BrainSpLMD|2801;Eurexp|euxassay_010595|clavicle, mandible, maxilla, rib	OMIM|602580
U4	LAMTOR1	0.440275172	2.01E-09	Unclassified	BrainSpLMD|55004	OMIM|613510
U4	RANBP3	1.333678216	2.01E-09	Transport/cargo protein	BrainSpLMD|8498	OMIM|603327
U4	RP11.278C7.1	1.396841578	2.03E-09			
U4	ERC1	0.578287566	2.04E-09	Regulatory/other subunit	BrainSpLMD|23085	OMIM|607127;COSMIC||papillary thyroid, Spitzoid tumour
U4	ZMAT3	0.266483433	2.07E-09	DNA binding protein	BrainSpLMD|64393	OMIM|606452
U4	AC016747.3	0.515530998	2.13E-09			
U4	RPL35	1.15517947	2.15E-09	Ribosomal subunit	BrainSpLMD|11224	
U4	PIGA	0.436063882	2.17E-09	Enzyme: Glycosyltransferase	BrainSpLMD|5277	OMIM|311770;HPO|5277|Abnormality of skin morphology, Abnormality of the pons, Absent septum pellucidum, Absent speech, Anteverted nares, Atrial septal defect, Birth length greater than 97th percentile, Bone marrow hypocellularity, Central hypotonia, Cerebellar hypoplasia, Cerebral cortical atrophy, Coarse facial features, Cortical visual impairment, Death in infancy, Delayed myelination, Depressed nasal bridge, Developmental regression, Downturned corners of mouth, Epileptic encephalopathy, Flexion contracture, Generalized myoclonic seizures, Gingival overgrowth, Hearing impairment, Hemolytic anemia, High palate, Hypercoagulability, Hyperreflexia, Hypertelorism, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile spasms, Large fontanelles, Large for gestational age, Macrocephaly, Malar flattening, Microdontia, Micrognathia, Micropenis, Muscular hypotonia of the trunk, Myoclonus, Narrow mouth, Neuronal loss in central nervous system, Olfactory lobe agenesis, Overfolded helix, Overgrowth, Paroxysmal nocturnal hemoglobinuria, Postnatal microcephaly, Prominent occiput, Short neck, Small nail, Somatic mutation, Thromboembolism, Triangular mouth, Upslanted palpebral fissure, Variable expressivity, Widely spaced teeth, X-linked recessive inheritance
U4	RP11.123C21.2	0.278561073	2.20E-09			
U4	MRPL16	0.403582863	2.32E-09	Ribosomal subunit	BrainSpLMD|54948	OMIM|611829
U4	RPS7P1	0.5366324	2.35E-09			
U4	TOM1L2	1.002840538	2.41E-09	Transport/cargo protein	BrainSpLMD|146691	OMIM|615519
U4	RP11.446E9.1	1.491601602	2.44E-09			
U4	PCED1A	1.02806253	2.61E-09	Unclassified	BrainSpLMD|64773	
U4	MT.TC	0.771079139	2.69E-09			
U4	FLII	0.346284671	2.81E-09	Cytoskeletal associated protein	BrainSpLMD|2314	OMIM|600362;HPO|2314|Abnormal form of the vertebral bodies, Abnormality of cardiovascular system morphology, Abnormality of the tracheobronchial system, Anteverted nares, Anxiety, Aplasia/Hypoplasia of the corpus callosum, Attention deficit hyperactivity disorder, Brachycephaly, Brachydactyly, Broad forehead, Chronic otitis media, Clinodactyly of the 5th finger, Conductive hearing impairment, Constipation, Corticospinal tract hypoplasia, Decreased fetal movement, Deeply set eye, Delayed eruption of primary teeth, Delayed speech and language development, Depressed nasal bridge, EEG abnormality, Failure to thrive in infancy, Feeding difficulties in infancy, Frontal bossing, Gait disturbance, Gastroesophageal reflux, Global developmental delay, Hoarse voice, Hyperacusis, Hypercholesterolemia, Hypertelorism, Hypertriglyceridemia, Hyporeflexia, Impaired pain sensation, Intellectual disability, Large face, Mandibular prognathia, Microcornea, Micrognathia, Midface retrusion, Muscular hypotonia, Myopia, Neurological speech impairment, Obesity, Open mouth, Pes planus, Scoliosis, Self-injurious behavior, Short nose, Short philtrum, Short stature, Sleep disturbance, Stereotypy, Strabismus, Synophrys, Taurodontia, Tented upper lip vermilion, Toe syndactyly, Upslanted palpebral fissure, Ventriculomegaly, Wide nasal bridge
U4	SMG1P7	1.811428522	2.92E-09			
U4	PSMD5.AS1	0.547755357	2.99E-09			
U4	PREX1	0.623114905	3.12E-09	Guanine nucleotide exchange factor	BrainSpLMD|57580;Eurexp|euxassay_007998|femur, humerus, mandible, mantle layer, marginal layer, maxilla, orbito-sphenoid, palatal shelf, rib, ventricular layer	SFARI||Autism, 3 - Suggestive evidence;OMIM|606905
U4	PFDN1	0.490001167	3.23E-09	Chaperone	BrainSpLMD|5201	OMIM|604897
U4	ZC3H11B	1.182992923	3.24E-09			
U4	ELP6	0.5491083	3.27E-09	Unclassified	BrainSpLMD|54859	OMIM|615020
U4	CCNK	1.151604672	3.33E-09	Transcription regulatory protein	BrainSpLMD|8812	OMIM|603544
U4	MED13L	0.414396169	3.42E-09	Unclassified	BrainSpLMD|23389	SFARI||Autism, 2 - Strong candidate;OMIM|608771;HPO|23389|Ataxia, Autism, Autosomal dominant inheritance, Brachycephaly, Bulbous nose, Clinodactyly, Coloboma, Cryptorchidism, Depressed nasal bridge, Dysarthria, Everted lower lip vermilion, Frontal bossing, Generalized hypotonia, Global developmental delay, Hypertelorism, Incomplete penetrance, Infantile onset, Intellectual disability, moderate, Low-set ears, Macroglossia, Macrotia, Motor delay, Narrow forehead, Open mouth, Patent foramen ovale, Plagiocephaly, Poor speech, Prominent forehead, Recurrent infections, Round face, Short neck, Strabismus, Transposition of the great arteries, Triangular face, Upslanted palpebral fissure, Wide mouth
U4	NBPF12	0.510979198	3.43E-09			OMIM|608607
U4	ALYREF	0.419799905	3.56E-09	Chaperone	BrainSpLMD|10189	OMIM|604171
U4	RP11.632C17__A.1	0.588856746	3.58E-09			
U4	EIF3G	0.910434474	3.67E-09	Translation regulatory protein	BrainSpLMD|8666	SFARI||Autism, 4 - Minimal evidence;OMIM|603913
U4	GTF2IP1	0.45568716	3.68E-09			
U4	SMG9	0.57278067	3.72E-09	Unclassified	BrainSpLMD|56006	OMIM|613176;HPO|56006|Abnormality of the pinna, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Camptodactyly of finger, Cerebral atrophy, Cleft lip, Dandy-Walker malformation, Delayed CNS myelination, Depressed nasal bridge, Everted lower lip vermilion, Gastroesophageal reflux, Generalized hypotonia, Global brain atrophy, Global developmental delay, Growth delay, Hand clenching, High, narrow palate, Hyperactive deep tendon reflexes, Hypertelorism, Hypoplasia of the corpus callosum, Interrupted aortic arch, Low-set ears, Microcephaly, Microphthalmia, Muscular hypotonia of the trunk, Narrow forehead, Polyhydramnios, Poor eye contact, Posteriorly rotated ears, Prominent forehead, Prominent metopic ridge, Prominent occiput, Thick lower lip vermilion, Ventricular septal defect, Visual impairment, Wide anterior fontanel, Wide nasal bridge
U4	SOX9.AS1	1.459596272	3.94E-09			
U4	RP11.358L22.3	0.250405894	4.12E-09			
U4	IDE	0.251600899	4.18E-09	Metallo protease	BrainSpLMD|3416;Eurexp|euxassay_018673|bladder, clavicle, cortex, dorsal root ganglion, epithelium, glossopharyngeal IX, incisor, left lung, liver, mandible, maxilla, medulla, midgut, molar, oesophagus, olfactory, pancreas, rectum, rib, right lung, spleen primordium, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|146680
U4	UBE2E3	1.065775597	4.19E-09	Ubiquitin proteasome system protein	BrainSpLMD|10477	OMIM|604151
U4	PSMD3	1.115402502	4.28E-09	Ubiquitin proteasome system protein	BrainSpLMD|5709	OMIM|617676
U4	ZFYVE16	0.417870092	4.38E-09	Membrane transport protein	BrainSpLMD|9765	OMIM|608880
U4	PTPRG.AS1	0.370015637	4.41E-09			
U4	RSRC2	0.322546314	4.54E-09	Unclassified	BrainSpLMD|65117	
U4	CRCP	0.331934551	4.78E-09	Adapter molecule	BrainSpLMD|27297	OMIM|606121
U4	NFATC2IP	0.692638763	5.00E-09	Unclassified	BrainSpLMD|84901	OMIM|614525
U4	VPS4A	0.939846751	5.41E-09	ATPase	BrainSpLMD|27183	OMIM|609982
U4	HIC2	0.894751266	5.41E-09	Transcription regulatory protein	BrainSpLMD|23119	OMIM|607712
U4	MAPKAP1	0.910436326	5.72E-09	Unclassified	BrainSpLMD|79109	OMIM|610558
U4	GNA12	0.81005886	5.85E-09	G protein	BrainSpLMD|2768	OMIM|604394
U4	XRRA1	0.411233168	5.89E-09	Unclassified	BrainSpLMD|143570	OMIM|609788
U4	HLA.B	0.500409868	5.91E-09			
U4	GLIS2	1.346811752	6.10E-09	Transcription regulatory protein	BrainSpLMD|84662	OMIM|608539;HPO|84662|Autosomal recessive inheritance, Nephronophthisis, Stage 5 chronic kidney disease, Tubular atrophy
U4	MLF2	0.682528174	6.25E-09	Unclassified	BrainSpLMD|8079	OMIM|601401
U4	WDR77	0.787592373	6.36E-09	Unclassified	BrainSpLMD|79084	OMIM|611734
U4	RPS11	0.923422998	6.41E-09	Ribosomal subunit	BrainSpLMD|6205	OMIM|180471
U4	PAXBP1.AS1	0.448847669	6.55E-09			
U4	C14orf119	0.411788637	6.63E-09	Unclassified		
U4	UBC	0.32541995	6.97E-09	Ubiquitin proteasome system protein	BrainSpLMD|7316	OMIM|191340
U4	ACTN1	0.356751015	7.10E-09	Cytoskeletal associated protein;Structural protein	BrainSpLMD|87	OMIM|102575;HPO|87|Anisocytosis, Autosomal dominant inheritance, Increased mean platelet volume, Thrombocytopenia
U4	RNF40	1.260988295	7.48E-09	Ubiquitin proteasome system protein	BrainSpLMD|9810	OMIM|607700
U4	MED19	0.876054168	7.95E-09	Structural protein	BrainSpLMD|219541;Eurexp|euxassay_005973|embryo	OMIM|612385
U4	SULT1C4	1.556780987	8.26E-09	Enzyme: Sulphotransferase	BrainSpLMD|27233	OMIM|608357
U4	CCDC102B	0.819222205	8.36E-09	Unclassified	BrainSpLMD|79839	
U4	CTA.204B4.2	1.257830244	8.76E-09			
U4	RAD54L	1.261910214	9.51E-09	DNA binding protein	BrainSpLMD|8438;Eurexp|euxassay_001626|cortex, incisor, marginal layer, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|603615;HPO|8438|Lymphoma
U4	JOSD1	0.309189348	9.65E-09	Unclassified	BrainSpLMD|9929	OMIM|615323
U4	ADAL	0.616842148	9.71E-09	Unclassified	BrainSpLMD|161823	
U4	TOB1	1.52342374	9.78E-09	Adapter molecule	BrainSpLMD|10140	OMIM|605523
U4	CTBP2	0.308550638	1.03E-08	Adapter molecule;Transcription regulatory protein	BrainSpLMD|1488;Eurexp|euxassay_012486|eyelid, incisor, lung, marginal layer, metanephros, midgut, molar, pancreas, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|12800	OMIM|602619
U4	KIF1A	0.551701592	1.05E-08	Motor protein	BrainSpLMD|547;Eurexp|euxassay_016778|alar plate, basal plate, cerebellum, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601255;HPO|547|Abnormal cortical bone morphology, Abnormality of epiphysis morphology, Abnormality of eye movement, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of the ankles, Abnormality of the eye, Abnormality of the hip bone, Abnormality of the knee, Abnormality of the palate, Abnormality of upper lip, Acral ulceration leading to autoamputation of digits, Anhidrosis, Ankle clonus, Anteverted nares, Areflexia, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Biparietal narrowing, Cerebellar atrophy, Cerebral cortical atrophy, Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Decreased taste sensation, Drowsiness, Dysmetria, Dystrophic fingernails, Dystrophic toenail, Edema of the lower limbs, Epicanthus, Episodic hyperhidrosis, External ear malformation, Feeding difficulties, Feeding difficulties in infancy, Foot acroosteolysis, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hydrocephalus, Hyperhidrosis, Hyperlordosis, Hyperreflexia, Hyporeflexia, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, severe, Limitation of joint mobility, Lower limb amyotrophy, Lower limb muscle weakness, Lower limb spasticity, Macrotia, Malar flattening, Microcephaly, Midface retrusion, Open mouth, Optic atrophy, Osteolytic defects of the phalanges of the hand, Painless fractures due to injury, Palpebral edema, Paronychia, Peripheral axonal neuropathy, Peripheral edema, Peripheral neuropathy, Porencephalic cyst, Progressive, Recurrent respiratory infections, Reduced bone mineral density, Severe muscular hypotonia, Short nose, Skeletal muscle atrophy, Slow progression, Spastic gait, Spastic paraplegia, Tapered finger, Urinary bladder sphincter dysfunction, Variable expressivity, Ventriculomegaly, Visual loss, Wormian bones
U4	CTTN	0.832377803	1.06E-08	Cytoskeletal associated protein	BrainSpLMD|2017	OMIM|164765
U4	ANKRD27	0.790766008	1.06E-08	Unclassified	BrainSpLMD|84079	
U4	PLOD3	1.030787469	1.07E-08	Enzyme: Hydroxylase	BrainSpLMD|8985;Eurexp|euxassay_000665|axial skeleton, chondrocranium, incisor, nasal capsule, pectoral girdle and thoracic body wall	OMIM|603066;HPO|8985|Abnormality of the pinna, Anteverted nares, Arterial rupture, Autosomal recessive inheritance, Bruising susceptibility, Cataract, Coarse hair, Decreased palmar creases, Diaphragmatic eventration, Dilatation of the cerebral artery, Downturned corners of mouth, Elbow flexion contracture, Flat face, Global developmental delay, Hearing impairment, Hypoplasia of the capital femoral epiphysis, Intrauterine growth retardation, J-shaped sella turcica, Long philtrum, Low-set ears, Malar flattening, Myopia, Nail dysplasia, Osteopenia, Pathologic fracture, Platyspondyly, Postnatal growth retardation, Scoliosis, Shallow orbits, Short nose, Talipes equinovarus, Thenar muscle atrophy
U4	CEP170P1	0.475476714	1.15E-08			
U4	TMEM66	1.136199214	1.16E-08			
U4	DMAP1	0.361594903	1.19E-08	Transcription regulatory protein	BrainSpLMD|55929	OMIM|605077
U4	RPL23AP32	0.901624716	1.20E-08		BrainSpLMD|56969	
U4	CYTH2	0.320405802	1.24E-08	Guanine nucleotide exchange factor	BrainSpLMD|9266	OMIM|602488
U4	POMZP3	1.306983085	1.26E-08	Unclassified	BrainSpLMD|22932	OMIM|600587
U4	PIK3IP1	1.164587013	1.29E-08	Integral membrane protein	BrainSpLMD|113791;Eurexp|euxassay_006239|meninges, oral epithelium	
U4	PPP6R2	1.027381728	1.29E-08	Unclassified	BrainSpLMD|9701;Eurexp|euxassay_012428|alar plate, basal plate, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla oblongata, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII	OMIM|610877
U4	EIF5A	0.89463116	1.36E-08	Translation Factor	BrainSpLMD|1984	OMIM|600187
U4	RPS5	0.350822445	1.41E-08	Ribosomal subunit		OMIM|603630
U4	IFI27L1	0.982489183	1.41E-08	Integral membrane protein	BrainSpLMD|122509	OMIM|611320
U4	HSPA8	0.50333412	1.43E-08	Heat shock protein	BrainSpLMD|3312	OMIM|600816
U4	NUP88	0.651108902	1.43E-08	Transport/cargo protein	BrainSpLMD|4927	OMIM|602552
U4	RP11.680G24.5	0.881423403	1.46E-08			
U4	ZNF407	0.401788251	1.57E-08	DNA binding protein	BrainSpLMD|55628	SFARI||Autism, No category;OMIM|615894
U4	HCFC1	0.990034606	1.66E-08	Transcription factor	BrainSpLMD|3054	SFARI||Autism, No category;OMIM|300019;HPO|3054|Brachycephaly, Failure to thrive, Generalized hypotonia, Hypsarrhythmia, Infantile onset, Intellectual disability, Methylmalonic acidemia, Methylmalonic aciduria, Microcephaly, Short stature, X-linked inheritance, X-linked recessive inheritance
U4	ECT2L	1.098674151	1.66E-08	Unclassified		COSMIC||ETP ALL
U4	COPG2	0.471032657	1.67E-08	Transport/cargo protein	BrainSpMouseDev|33453	OMIM|604355
U4	DNAH10OS	1.139269374	1.84E-08			
U4	SLC39A1	0.43951816	1.85E-08	Membrane transport protein	BrainSpLMD|27173;Eurexp|euxassay_004867|thymus primordium, ventricular layer	OMIM|604740
U4	FAM13B	0.410768411	1.85E-08	GTPase activating protein	BrainSpLMD|51306	OMIM|609371
U4	CCDC85C	1.161122814	1.88E-08	Unclassified	BrainSpLMD|317762	
U4	MIR137HG	0.45816596	1.96E-08		BrainSpLMD|400765	
U4	B4GALT1	0.491047588	1.98E-08	Enzyme: Galactosyltransferase	BrainSpLMD|2683	OMIM|137060;HPO|2683|Abnormality of coagulation, Autosomal recessive inheritance, Dandy-Walker malformation, Elevated serum creatine phosphokinase, Generalized hypotonia, Global developmental delay, Hydrocephalus, Macrocephaly, Muscular hypotonia, Myopathy
U4	GNB5	0.401015934	1.98E-08	G protein	BrainSpLMD|10681	OMIM|604447;HPO|10681|Abnormal electroretinogram, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Bradycardia, Delayed speech and language development, Generalized hypotonia, Global developmental delay, Intellectual disability, Nystagmus, Retinal degeneration, Sick sinus syndrome
U4	FAM20C	1.751319464	2.13E-08	Unclassified		OMIM|611061;HPO|56975|Anteverted nares, Autosomal recessive inheritance, Brachyturricephaly, Cerebral calcification, Choanal atresia, Choanal stenosis, Cleft palate, Delayed cranial suture closure, Depressed nasal bridge, Depressed nasal ridge, Downslanted palpebral fissures, Elevated alkaline phosphatase, Gingival fibromatosis, Gingival overgrowth, Global developmental delay, High palate, Hypertelorism, Hypophosphatemia, Increased bone mineral density, Intrauterine growth retardation, Large fontanelles, Low-set ears, Malar flattening, Mandibular aplasia, Median cleft lip and palate, Microcephaly, Micrognathia, Midface retrusion, Narrow mouth, Neonatal death, Posteriorly rotated ears, Proptosis, Protruding tongue, Pulmonary hypoplasia, Respiratory distress, Respiratory failure, Retrognathia, Short neck, Short nose, Short stature, Thoracic hypoplasia
U4	ARID5A	1.363483012	2.13E-08	DNA binding protein;Transcription regulatory protein	BrainSpLMD|10865;Eurexp|euxassay_019589|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, ventral grey horn, vestibulocochlear VIII	OMIM|611583
U4	RDH11	1.718501595	2.20E-08	Enzyme: Dehydrogenase	BrainSpLMD|51109	OMIM|607849;HPO|51109|Autosomal recessive inheritance, Dental malocclusion, Global developmental delay, Malar flattening, Retinal dystrophy, Short stature, Upslanted palpebral fissure, Widely spaced teeth
U4	AMFR	0.49935083	2.24E-08	Ubiquitin proteasome system protein	BrainSpLMD|267;Eurexp|euxassay_003433|left, right	OMIM|603243
U4	OTUD7B	0.679148706	2.25E-08	Ubiquitin proteasome system protein	BrainSpLMD|56957	OMIM|611748
U4	COMMD5	0.993046196	2.33E-08	Unclassified	BrainSpLMD|28991	OMIM|608216
U4	NDUFV2	1.177442663	2.40E-08	Enzyme: Oxidoreductase	Eurexp|euxassay_014298|Meckel's cartilage, femur, fibula, humerus, orbito-sphenoid, pelvic girdle, petrous part, scapula, tibia, turbinate	OMIM|600532;HPO|4729|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
U4	MGAT4A	0.465370198	2.40E-08	Enzyme: Glucosaminyltransferase	BrainSpLMD|11320	OMIM|604623
U4	C9orf16	1.802406532	2.56E-08	Unclassified	BrainSpLMD|79095;Eurexp|euxassay_000206|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn	
U4	UBE2E1	0.947123005	2.58E-08	Ubiquitin proteasome system protein	BrainSpLMD|7324;Eurexp|euxassay_003420|bladder, cervical, cervico-thoracic, clavicle, cortex, cranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, left lung, molar, naris, olfactory, orbito-sphenoid, pharyngo-tympanic tube, respiratory, right lung, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|602916
U4	SLC30A10	0.877459909	2.59E-08	Transport/cargo protein	BrainSpLMD|55532	OMIM|611146;HPO|55532|Autosomal recessive inheritance, Bradykinesia, Cirrhosis, Decreased liver function, Dysarthria, Dystonia, Elevated hepatic transaminases, Hepatomegaly, Increased total iron binding capacity, Parkinsonism, Polycythemia, Poor fine motor coordination, Postural instability, Rigidity, Tremor, Variable expressivity
U4	TXN2	0.296615973	2.61E-08	Enzyme: Oxidoreductase	BrainSpLMD|25828	OMIM|609063;HPO|25828|Autosomal recessive inheritance, Axonal degeneration, Cerebellar atrophy, Congenital onset, Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex III, Delayed CNS myelination, Dystonia, Feeding difficulties, Generalized hypotonia, Global brain atrophy, Global developmental delay, Increased CSF lactate, Increased CSF protein, Increased serum lactate, Infantile onset, Microcephaly, Optic atrophy, Optic neuropathy, Peripheral neuropathy, Progressive, Retinopathy, Seizures, Spasticity, Subependymal cysts
U4	EAPP	0.301509957	2.65E-08	Unclassified	BrainSpLMD|55837	OMIM|609486
U4	MAP4K3	0.294745553	2.65E-08	Serine/threonine kinase	BrainSpLMD|8491	OMIM|604921
U4	PSPC1	0.904468773	2.77E-08	RNA binding protein	BrainSpLMD|55269;Eurexp|euxassay_006824|embryo	OMIM|612408
U4	DHX57	0.25236499	2.77E-08	Unclassified	BrainSpLMD|90957	
U4	BTBD1	0.500708046	2.79E-08	Unclassified	BrainSpLMD|53339	OMIM|608530
U4	KDSR	0.321963784	2.80E-08	Secreted polypeptide	BrainSpLMD|2531	OMIM|136440;COSMIC||B-NHL;HPO|2531|Abnormal blistering of the skin, Alopecia, Autosomal recessive inheritance, Cataract, Cutaneous photosensitivity, Diabetes mellitus, Dry skin, Epidermal acanthosis, Erythema, Glaucoma, Hypermelanotic macule, Microcephaly, Palmoplantar keratoderma, Patchy palmoplantar keratoderma, Short stature, Skin plaque, Skin rash, Weight loss
U4	GJA1	1.066057745	2.80E-08	Membrane transport protein	BrainSpLMD|2697;BrainSpMouseDev|14385	OMIM|121014;HPO|2697|2-4 toe cutaneous syndactyly, 3-4 toe syndactyly, 4-5 finger syndactyly, Abnormal blistering of the skin, Abnormal cortical bone morphology, Abnormality of dental enamel, Abnormality of dental morphology, Abnormality of the cerebral white matter, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormality of the nasopharynx, Abnormality of the thorax, Absent middle phalanx of 5th finger, Alopecia, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the middle phalanges of the hand, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Basal ganglia calcification, Blepharophimosis, Bony paranasal bossing, Brachycephaly, Broad alveolar ridges, Broad columella, Broad long bones, Camptodactyly of finger, Carious teeth, Cataract, Cerebral calcification, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Club-shaped distal femur, Coarse facial features, Conductive hearing impairment, Congenital alopecia totalis, Congestive heart failure, Cranial hyperostosis, Craniofacial hyperostosis, Cubitus valgus, Curly hair, Cutaneous photosensitivity, Cyanosis, Delayed eruption of permanent teeth, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Depressed nasal bridge, Diabetes mellitus, Downslanted palpebral fissures, Dry hair, Dry skin, Dysarthria, Dystrophic fingernails, Epicanthus, Epidermal acanthosis, Erythema, External ear malformation, Facial hyperostosis, Facial palsy, Failure to thrive, Fifth finger distal phalanx clinodactyly, Fine hair, Finger syndactyly, Fingernail dysplasia, First degree atrioventricular block, Flared metaphysis, Fragile nails, Frontal bossing, Gait disturbance, Generalized hyperkeratosis, Glaucoma, High forehead, High-grade hypermetropia, Hip dislocation, Hyperactive deep tendon reflexes, Hypergranulosis, Hypermelanotic macule, Hyperreflexia, Hypertelorism, Hypoplasia of dental enamel, Hypoplasia of teeth, Hypoplasia of the maxilla, Hypoplastic aortic arch, Hypoplastic left heart, Hypotelorism, Hypotrichosis, Infantile onset, Inlet ventricular septal defect, Intellectual disability, Joint contracture of the 5th finger, Large earlobe, Long nose, Long philtrum, Low-set ears, Macrocephaly, Macrodontia of permanent maxillary central incisor, Mandibular prognathia, Median cleft lip, Metaphyseal dysplasia, Microcephaly, Microcornea, Microdontia, Micrognathia, Microphthalmia, Mild global developmental delay, Mixed hearing impairment, Muscle weakness, Myopia, Nail dysplasia, Narrow mouth, Narrow nasal bridge, Narrow nose, Nasal obstruction, Neurogenic bladder, Optic atrophy, Osteopetrosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Paraparesis, Patchy palmoplantar keratoderma, Patchy sclerosis of finger phalanx, Persistent pupillary membrane, Phenotypic variability, Premature loss of primary teeth, Premature loss of teeth, Primum atrial septal defect, Prominent epicanthal folds, Pulmonary arterial hypertension, Reduced number of teeth, Seizures, Selective tooth agenesis, Short 5th finger, Short foot, Short middle phalanx of the 5th finger, Short nose, Short palpebral fissure, Short stature, Skeletal dysplasia, Skin rash, Slow-growing hair, Small hand, Sparse eyelashes, Sparse hair, Spastic paraparesis, Spasticity, Telecanthus, Tetraparesis, Thin anteverted nares, Thin vermilion border, Toe syndactyly, Underdeveloped nasal alae, Vertebral hyperostosis, Visual impairment, Weight loss, Wide nasal bridge
U4	TBC1D9	0.364854435	2.82E-08	Unclassified		
U4	BMP2K	0.772693989	2.84E-08	Serine/threonine kinase	BrainSpLMD|55589	OMIM|617648
U4	ZNF260	0.822210492	2.87E-08	DNA binding protein	BrainSpLMD|339324	OMIM|613749
U4	AHI1	1.372684635	2.87E-08	Adapter molecule	BrainSpLMD|54806;Eurexp|euxassay_005590|brain, cervical, cervico-thoracic, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V;BrainSpMouseDev|32386	SFARI||Autism, No category;OMIM|608894;HPO|54806|Abnormal electroretinogram, Anteverted nares, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Central apnea, Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Enlarged fossa interpeduncularis, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Heterogeneous, Highly arched eyebrow, Intellectual disability, Long face, Low-set ears, Molar tooth sign on MRI, Motor delay, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nystagmus, Oculomotor apraxia, Open mouth, Pigmentary retinopathy, Ptosis, Retinal dystrophy, Stage 5 chronic kidney disease, Visual impairment, Wide nasal bridge
U4	RP11.44N11.1	1.706443941	2.89E-08			
U4	SERGEF	1.086790181	2.94E-08	Guanine nucleotide exchange factor	BrainSpLMD|26297;Eurexp|euxassay_001466|brain, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, oesophagus, spinal cord, thoracic, trigeminal V, vagus X	OMIM|606051
U4	GSTO2	1.15747711	2.94E-08	Enzyme: Glutathione transferase	BrainSpLMD|119391	OMIM|612314
U4	KIAA1919	1.135494453	2.98E-08			
U4	DDX5	0.457066266	3.04E-08	RNA binding protein	BrainSpLMD|1655;BrainSpMouseDev|12987	OMIM|180630;COSMIC||prostate
U4	RABL2B	0.815826789	3.12E-08	GTPase	BrainSpLMD|11158	OMIM|605413
U4	TP53	2.910886873	3.13E-08	Transcription factor	BrainSpLMD|7157;Eurexp|euxassay_017977|submandibular gland primordium, thymus primordium;BrainSpMouseDev|21816	OMIM|191170;COSMIC||breast, colorectal, lung, sarcoma, adrenocortical, glioma, Spitzoid tumour, multiple other tumour types, breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types;HPO|7157|Abnormal lactate dehydrogenase activity, Abnormal platelet morphology, Abnormality of metabolism/homeostasis, Abnormality of the fallopian tube, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphysis, Acute leukemia, Adrenocortical carcinoma, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast carcinoma, Chest pain, Choroid plexus papilloma, Colon cancer, Elevated alkaline phosphatase, Headache, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hydrocephalus, Increased megakaryocyte count, Joint swelling, Lung adenocarcinoma, Lymphoma, Micronodular cirrhosis, Myocardial infarction, Nausea, Neoplasia of the nasopharynx, Neoplasm of the adrenal cortex, Neoplasm of the colon, Neoplasm of the nervous system, Neoplasm of the pancreas, Neoplasm of the skin, Neoplasm of the stomach, Nephroblastoma, Osteolysis, Osteosarcoma, Ovarian neoplasm, Pain, Papilledema, Paresthesia, Polygenic inheritance, Primary peritoneal carcinoma, Progressive encephalopathy, Prolonged bleeding time, Prostate cancer, Prostate neoplasm, Renal cell carcinoma, Retinoblastoma, Seizures, Soft tissue sarcoma, Somatic mutation, Splenomegaly, Subacute progressive viral hepatitis, Transient ischemic attack, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Venous thrombosis, Vomiting
U4	EP300	0.284710308	3.14E-08	Transcription regulatory protein	BrainSpLMD|2033;BrainSpMouseDev|108486	SFARI||Autism, 4 - Minimal evidence;OMIM|602700;COSMIC||colorectal, breast, pancreatic, AML, ALL, DLBCL;HPO|2033|Abnormal number of teeth, Abnormality of refraction, Abnormality of the cervical spine, Abnormality of the cornea, Abnormality of the kidney, Abnormality of the pinna, Aganglionic megacolon, Agenesis of corpus callosum, Agoraphobia, Arrhythmia, Atrial septal defect, Autism, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Bifid uterus, Bimanual synkinesia, Broad hallux, Broad thumb, Cafe-au-lait spot, Capillary hemangiomas, Carious teeth, Cataract, Chorioretinal dystrophy, Clinodactyly of the 5th finger, Coloboma, Congenital onset, Constipation, Convex nasal ridge, Cryptorchidism, Deeply set eye, Delayed cranial suture closure, Delayed gross motor development, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Dental malocclusion, Deviated nasal septum, Dislocated radial head, Downslanted palpebral fissures, Duane anomaly, Duplication of phalanx of hallux, EEG abnormality, Epicanthus, Facial grimacing, Failure to thrive, Feeding difficulties in infancy, Flared iliac wings, Flexion contracture, Frontal bossing, Frontal upsweep of hair, Generalized hypotonia, Glaucoma, Global developmental delay, Hearing impairment, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, High axial triradius, High palate, Highly arched eyebrow, Hirsutism, Hyperactivity, Hyperreflexia, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Hypoplastic iliac wing, Hypospadias, Impulsivity, Intellectual disability, Intellectual disability, mild, Joint hypermobility, Joint laxity, Keloids, Large foramen magnum, Laryngomalacia, Long eyelashes, Low anterior hairline, Low hanging columella, Low posterior hairline, Low-set ears, Microcephaly, Micrognathia, Muscular hypotonia, Narrow mouth, Narrow palate, Nasolacrimal duct obstruction, Neoplasm of the stomach, Obstructive sleep apnea, Overbite, Papillary cystadenoma of the epididymis, Parietal foramina, Patellar dislocation, Patent ductus arteriosus, Pectus excavatum, Pes planus, Phonophobia, Plantar crease between first and second toes, Polydactyly, Polyhydramnios, Poor coordination, Posterior helix pit, Postnatal growth retardation, Premature thelarche, Prominent fingertip pads, Prominent nose, Proptosis, Ptosis, Radial deviation of thumb terminal phalanx, Recurrent upper respiratory tract infections, Renal cell carcinoma, Respiratory distress, Retrognathia, Scoliosis, Seizures, Self-mutilation, Shawl scrotum, Short attention span, Short stature, Single transverse palmar crease, Spina bifida occulta, Sporadic, Stereotypy, Strabismus, Syndactyly, Talon cusp, Tethered cord, Thick eyebrow, Transitional cell carcinoma of the bladder, Truncal obesity, Unsteady gait, Uterine leiomyosarcoma, Variable expressivity, Vascular ring, Ventricular septal defect, Wide anterior fontanel, Wide nasal bridge
U4	CHMP2A	0.544096435	3.17E-08	Transport/cargo protein	BrainSpLMD|27243;Eurexp|euxassay_001955|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, olfactory, pancreas, rectum, spinal cord, thoracic, thymus primordium, trigeminal V, urethra, vibrissa	OMIM|610893
U4	PTPN23	1.412198359	3.31E-08	Tyrosine phosphatase	BrainSpLMD|25930	OMIM|606584
U4	ABHD3	0.840670438	3.31E-08	Unclassified	BrainSpLMD|171586;Eurexp|euxassay_005011|choroid plexus, lateral recess, mantle layer, olfactory, urethra	OMIM|612197
U4	C9orf3	0.370947587	3.34E-08	Aminopeptidase	BrainSpLMD|84909	
U4	SMG6	0.740998598	3.34E-08	DNA binding protein	BrainSpLMD|23293	SFARI||Autism, No category;OMIM|610963
U4	LINC00094	1.025712782	3.36E-08			
U4	SLC15A4	0.837772308	3.60E-08	Membrane transport protein	BrainSpLMD|121260	OMIM|615806
U4	GYS1	0.93512093	3.63E-08	Enzyme: Ligase	BrainSpLMD|2997;Eurexp|euxassay_003582|mantle layer, vertebral axis muscle system	OMIM|138570;HPO|2997|Autosomal recessive inheritance, Cardiomyopathy, Decreased muscle glycogen content, Exercise intolerance, Generalized tonic-clonic seizures, Left ventricular hypertrophy
U4	MRPL52	1.163575221	3.64E-08	Ribosomal subunit	BrainSpLMD|122704	OMIM|611856
U4	GPAA1	0.987529998	3.69E-08	Anchor protein	BrainSpLMD|8733	OMIM|603048
U4	ADAM17	0.505334968	3.71E-08	Metallo protease	BrainSpLMD|6868;BrainSpMouseDev|11279	OMIM|603639;HPO|6868|Autosomal recessive inheritance, Blepharitis, Eosinophilia, Erythema, Erythroderma, Hematochezia, Paronychia, Pustule, Thick nail, Villous atrophy
U4	FLJ31306	1.707434621	3.71E-08			
U4	SNORA73	0.973829732	3.79E-08			
U4	NEFM	0.50579486	3.81E-08	Structural protein	BrainSpLMD|4741;Eurexp|euxassay_009463|basal plate, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lip, mantle layer, marginal layer, midgut, neural retina, pons, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|162250
U4	STRA13	0.81880423	4.08E-08			
U4	ZNF461	0.270099239	4.11E-08	Transcription regulatory protein	BrainSpLMD|92283	OMIM|608640
U4	SIAH2	0.785412402	4.15E-08	Unclassified	BrainSpLMD|6478	OMIM|602213
U4	GEM	0.716597901	4.24E-08	G protein	BrainSpLMD|2669;Eurexp|euxassay_003192|adrenal gland, clavicle, dorsal grey horn, incisor, molar, oesophagus, testis, ventricular layer, vibrissa	OMIM|600164
U4	CDH12	0.677944125	4.44E-08	Adhesion molecule	BrainSpLMD|1010;Eurexp|euxassay_016537|bladder, femur, hindgut, humerus, midgut, scapula;BrainSpMouseDev|84832	OMIM|600562
U4	DDAH2	0.452951896	4.57E-08	Enzyme: Hydrolase	BrainSpLMD|23564	OMIM|604744
U4	PPIB	0.647616809	4.77E-08	Chaperone	BrainSpLMD|5479;Eurexp|euxassay_000530|basioccipital bone, basisphenoid bone, cranium, nucleus pulposus, orbito-sphenoid, otic capsule, rib, sphenoid	OMIM|123841;HPO|5479|Autosomal recessive inheritance, Blue sclerae, Bowing of limbs due to multiple fractures, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Kyphosis, Multiple prenatal fractures, Pectus carinatum, Pectus excavatum, Recurrent fractures, Scoliosis, Wormian bones
U4	RRP8	0.625335961	4.87E-08	Enzyme: Methyltransferase	BrainSpLMD|23378;Eurexp|euxassay_013676|ventricular layer	OMIM|615818
U4	MAML3	0.571054469	4.87E-08	DNA binding protein	BrainSpLMD|55534	OMIM|608991
U4	NPIPA7	0.281430681	4.93E-08			
U4	PPP2R5A	0.781434416	5.10E-08	Serine/threonine phosphatase	BrainSpLMD|5525	OMIM|601643
U4	ATG4B	0.918998827	5.12E-08	Cysteine protease		OMIM|611338
U4	ZNF507	0.320690054	5.34E-08	DNA binding protein	BrainSpLMD|22847	
U4	RNF112	0.53807563	5.34E-08	DNA binding protein	BrainSpLMD|7732	OMIM|601237
U4	N6AMT2	1.098134118	5.44E-08			
U4	WBP4	0.990348324	5.45E-08	RNA binding protein	BrainSpLMD|11193	OMIM|604981
U4	NIPBL	2.065421482	5.56E-08	-	BrainSpLMD|25836	SFARI||Autism, No category;OMIM|608667;HPO|25836|2-3 toe syndactyly, Abnormality of the umbilicus, Abnormally low-pitched voice, Anteverted nares, Anxiety, Astigmatism, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Choanal atresia, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Conductive hearing impairment, Congenital diaphragmatic hernia, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Dislocated radial head, Downturned corners of mouth, Duplication of internal organs, Ectopic kidney, Elbow dislocation, Elbow flexion contracture, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Hand oligodactyly, Hiatus hernia, High palate, High, narrow palate, Highly arched eyebrow, Hirsutism, Hypertonia, Hypoplasia of penis, Hypoplasia of the radius, Hypoplastic labia majora, Hypoplastic male external genitalia, Hypoplastic nipples, Hypoplastic radial head, Hypospadias, Inguinal hernia, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Limited elbow extension, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Malrotation of colon, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Optic nerve coloboma, Phenotypic variability, Phocomelia, Phthisis bulbi, Pneumonia, Premature birth, Proptosis, Proximal placement of thumb, Ptosis, Pyloric stenosis, Radioulnar synostosis, Reduced renal corticomedullary differentiation, Seizures, Self-injurious behavior, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Short sternum, Single transverse palmar crease, Sleep disturbance, Small hand, Sporadic, Strabismus, Supernumerary ribs, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Thrombocytopenia, Toe syndactyly, Ventricular septal defect, Vesicoureteral reflux, Weak cry, Widely spaced teeth
U4	EMC9	1.531184488	5.64E-08	Unclassified	BrainSpLMD|51016	
U4	WDR1	0.339486772	5.90E-08	Unclassified	BrainSpLMD|9948	OMIM|604734
U4	PIK3C3	2.415480582	6.07E-08	Lipid Kinase	BrainSpLMD|5289;Eurexp|euxassay_014288|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate, vault of skull	OMIM|602609
U4	LINC01089	1.486728732	6.20E-08		BrainSpLMD|338799	
U4	CMTR1	1.059109579	6.28E-08	RNA methyltransferase	BrainSpLMD|23070	OMIM|616189
U4	RP11.584P21.2	4.023141247	6.37E-08			
U4	SDK2	0.990031896	6.42E-08	Adhesion molecule	BrainSpLMD|54549;Eurexp|euxassay_009454|clavicle, femur, mantle layer, tongue, ventral grey horn, ventricular layer	OMIM|607217
U4	RRN3P1	0.31884135	6.46E-08			
U4	GUSBP4	1.902941239	6.55E-08	-	BrainSpLMD|375513	
U4	HSPB1	1.389609783	6.73E-08	Chaperone	BrainSpLMD|3315	OMIM|602195;HPO|3315|Adult onset, Areflexia, Areflexia of lower limbs, Autosomal dominant inheritance, Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Difficulty walking, Distal amyotrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Distal sensory impairment, EMG: chronic denervation signs, EMG: neuropathic changes, Fasciculations, Foot dorsiflexor weakness, Heterogeneous, Hyporeflexia, Hyporeflexia of lower limbs, Impaired pain sensation, Impaired temperature sensation, Limb fasciculations, Lower limb muscle weakness, Muscle cramps, Paresis of extensor muscles of the big toe, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Reduced tendon reflexes, Slow progression, Split hand, Steppage gait, Talipes equinovarus, Ulnar claw, Upper limb amyotrophy
U4	OGG1	0.581041324	6.81E-08	DNA repair protein	BrainSpLMD|4968	OMIM|601982;HPO|4968|Renal cell carcinoma, Sporadic
U4	GPRC5B	0.700411932	6.86E-08	G protein coupled receptor	BrainSpLMD|51704;BrainSpMouseDev|40898	OMIM|605948
U4	GLIPR2	1.256193579	6.86E-08	Unclassified	BrainSpLMD|152007;Eurexp|euxassay_005658|arm, diaphragm, footplate, handplate, leg, lower leg, paraxial mesenchyme, tongue, upper leg, vertebral axis muscle system	OMIM|607141
U4	TICRR	0.507790625	7.67E-08	Unclassified	BrainSpLMD|90381	OMIM|613298
U4	AKNA	1.192618947	7.75E-08	Transcription factor	BrainSpLMD|80709;Eurexp|euxassay_019530|marginal layer, neural retina, olfactory, thymus primordium, ventricular layer, vomeronasal organ;BrainSpMouseDev|64352	OMIM|605729
U4	LYAR	1.431111878	7.80E-08	Transcription regulatory protein	BrainSpLMD|55646;Eurexp|euxassay_011091|axial muscle, clavicle, cortex, incisor, lobe, lung, mandible, maxilla, molar, olfactory, pancreas, submandibular gland primordium, testis, thymus primordium, vibrissa	OMIM|617684
U4	SH2D3C	0.828404683	7.87E-08	Adapter molecule	BrainSpLMD|10044	OMIM|604722
U4	PMS2P4	1.23692877	8.21E-08			
U4	EIF1	0.990893056	8.34E-08	Translation regulatory protein	BrainSpLMD|10209	
U4	SRRM2	0.678041298	8.65E-08	RNA binding protein	BrainSpLMD|23524;Eurexp|euxassay_008167|embryo	OMIM|606032
U4	PPP1R8	1.002154573	8.70E-08	Ribonuclease	BrainSpLMD|5511;Eurexp|euxassay_002630|adrenal gland	OMIM|602636
U4	RABL6	1.318448935	8.90E-08	GTPase	BrainSpLMD|55684	OMIM|610615
U4	BEX5	1.16373548	1.00E-07	Unclassified		OMIM|300693
U4	AFTPH	0.314317946	1.04E-07	Unclassified	BrainSpLMD|54812	
U4	DENR	0.405166475	1.09E-07	Unclassified	BrainSpLMD|8562	SFARI||Autism, 3 - Suggestive evidence;OMIM|604550
U4	TRMT44	1.32145528	1.11E-07	Unclassified	BrainSpLMD|152992	OMIM|614309
U4	PRDM15	0.251008499	1.15E-07	DNA binding protein	BrainSpLMD|63977;Eurexp|euxassay_019611|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|617692
U4	CACNG8	0.832784151	1.20E-07	Voltage gated channel	BrainSpLMD|59283;Eurexp|euxassay_002189|marginal layer	OMIM|606900
U4	RPL36AL	0.815614889	1.22E-07	Ribosomal subunit	BrainSpLMD|6166	OMIM|180469
U4	NPM1P27	0.525650613	1.25E-07			
U4	SNTG1	0.521011805	1.32E-07	Adapter molecule	BrainSpLMD|54212	OMIM|608714
U4	FBXL19.AS1	1.205620275	1.33E-07			
U4	HNRNPM	0.459984148	1.33E-07	Ribonucleoprotein	BrainSpLMD|4670	OMIM|160994
U4	MED30	0.467594186	1.34E-07	Transcription regulatory protein	BrainSpLMD|90390	OMIM|610237
U4	PGM5P2	0.821102306	1.35E-07			
U4	MT.RNR1	0.596162037	1.37E-07			
U4	ARL6	0.723854001	1.40E-07	GTPase	BrainSpLMD|84100	OMIM|608845;HPO|84100|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Brachydactyly, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, External genital hypoplasia, Glaucoma, Hyperinsulinemia, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Keratoconus, Multicystic kidney dysplasia, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Pigmentary retinopathy, Polydactyly, Postaxial hand polydactyly, Progressive night blindness, Renal hypoplasia, Rod-cone dystrophy, Sensorineural hearing impairment, Short stature, Variable expressivity, Wide nasal bridge
U4	CNIH4	0.328515123	1.44E-07	Unclassified	BrainSpLMD|29097	OMIM|617483
U4	TUBGCP6	1.119211432	1.48E-07	Cytoskeletal protein	BrainSpLMD|85378	OMIM|610053;HPO|85378|Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Abnormality of the eyelashes, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Autosomal recessive inheritance, Biparietal narrowing, Cataract, Cerebellar hypoplasia, Cerebral atrophy, Cerebral cortical atrophy, Chorioretinal dysplasia, Congenital onset, Cortical gyral simplification, Global developmental delay, Hypertonia, Intellectual disability, Intrauterine growth retardation, Microcephaly, Microphthalmia, Nystagmus, Optic atrophy, Optic disc pallor, Pachygyria, Pointed chin, Protruding ear, Retinal detachment, Retinal dystrophy, Retinal fold, Scoliosis, Seizures, Short stature, Sloping forehead, Strabismus, Visual impairment, Wide nasal bridge
U4	HMGB2	1.934501969	1.53E-07	Transcription regulatory protein	BrainSpLMD|3148;Eurexp|euxassay_019251|incisor, lobe, lung, marginal layer, metanephros, molar, neural retina, oesophagus, pancreas, pituitary, submandibular gland primordium, thymus primordium, thyroid, trachea, turbinate bones, valve, ventricle, ventricular layer, vertebral axis muscle system	OMIM|163906
U4	SRSF11	0.48696779	1.56E-07	Transcription regulatory protein	BrainSpLMD|9295	SFARI||Autism, 2 - Strong candidate;OMIM|602010
U4	PDSS1	0.958146012	1.59E-07	Enzyme: Transferase	BrainSpLMD|23590	OMIM|607429;HPO|23590|Aortic regurgitation, Areflexia, Autosomal recessive inheritance, Cutis marmorata, Increased serum lactate, Intellectual disability, mild, Macrocephaly, Mitral regurgitation, Obesity, Optic atrophy, Peripheral neuropathy, Pulmonary arterial hypertension
U4	BEND5	0.737746696	1.60E-07	Unclassified	BrainSpLMD|79656	
U4	ANGPTL1	0.463729489	1.60E-07	Secreted polypeptide	BrainSpLMD|9068;Eurexp|euxassay_011312|axial skeleton, basioccipital bone, basisphenoid bone, cartilaginous ring, diaphragm, greater sac, handplate, mesenchyme, midgut, naris, oesophagus, orbito-sphenoid, otic capsule, peritoneal cavity, rectum, rib, skeletal muscle, sternum, turbinate bones, valve;BrainSpMouseDev|48554	OMIM|603874
U4	POLR3D	0.288407414	1.64E-07	RNA polymerase	BrainSpLMD|661	OMIM|187280
U4	SLC25A6	0.688055146	1.67E-07	Transport/cargo protein		OMIM|403000
U4	USP19	1.036963419	1.68E-07	Ubiquitin proteasome system protein		OMIM|614471
U4	ZNF585B	0.332703945	1.68E-07	DNA binding protein	BrainSpLMD|92285	
U4	NOM1	0.855414195	1.69E-07	Unclassified	Eurexp|euxassay_016438|axial skeleton, bladder, dorsal root ganglion, femur, fibula, humerus, pelvic girdle, rib, tibia, ventral grey horn	OMIM|611269
U4	NEK11	0.519220783	1.80E-07	Cell cycle control protein	BrainSpLMD|79858	OMIM|609779
U4	RPS4X	0.528020422	1.86E-07	Ribosomal subunit	BrainSpLMD|6191;BrainSpMouseDev|19865	OMIM|312760
U4	SUGP1	1.29705467	1.90E-07	RNA binding protein	BrainSpLMD|57794	OMIM|607992
U4	LMBRD1	0.33718483	1.92E-07	Integral membrane protein	BrainSpLMD|55788	OMIM|612625;HPO|55788|Ataxia, Autosomal recessive inheritance, Cystathioninemia, Cystathioninuria, Decreased adenosylcobalamin, Decreased methionine synthase activity, Decreased methylcobalamin, Developmental regression, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Glossitis, High palate, Homocystinuria, Hyperhomocystinemia, Incoordination, Infantile onset, Lethargy, Low-set ears, Megaloblastic anemia, Megaloblastic bone marrow, Methylmalonic acidemia, Methylmalonic aciduria, Microtia, Muscular hypotonia, Neutropenia, Pancytopenia, Psychosis, Seizures, Skin rash, Stomatitis, Thin upper lip vermilion, Thrombocytopenia
U4	TNFRSF21	0.429214911	2.04E-07	Cell surface receptor	BrainSpLMD|27242;Eurexp|euxassay_012361|anterior, brain, calyces, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, lip, meninges, mesenchyme, olfactory, pelvis, posterior, right lung, spinal cord, stomach, trigeminal V, ureter, utricle, vagus X, vestibulocochlear VIII	OMIM|605732
U4	AP2A2	1.257347408	2.05E-07	Transport/cargo protein	BrainSpLMD|161	OMIM|607242
U4	NKIRAS1	2.34050772	2.13E-07	GTPase	BrainSpLMD|28512	OMIM|604496
U4	C1orf35	0.974366489	2.16E-07	Unclassified	BrainSpLMD|79169;Eurexp|euxassay_006179|ventricular layer	
U4	JARID2	0.328410011	2.19E-07	DNA binding protein	BrainSpLMD|3720	SFARI||Autism, No category;OMIM|601594
U4	MARCKSL1	0.411566845	2.25E-07	Adapter molecule	BrainSpLMD|65108;BrainSpMouseDev|17125	OMIM|602940
U4	CNTROB	0.570370008	2.28E-07	Cell cycle control protein;Unclassified	BrainSpLMD|116840	OMIM|611425
U4	KCNAB3	1.053322106	2.33E-07	Voltage gated channel	BrainSpLMD|9196;BrainSpMouseDev|16272	OMIM|604111
U4	ST5	0.339406932	2.34E-07	Unclassified	BrainSpLMD|6764	OMIM|140750
U4	MAP2K1	0.680311469	2.37E-07	Dual specificity kinase	BrainSpLMD|5604	OMIM|176872;COSMIC||NSCLC, melanoma, colorectal, Cardiofaciocutaneous syndrome;HPO|5604|Abnormal bleeding, Abnormality of the palpebral fissures, Abnormality of the ulna, Abnormality of vision, Amegakaryocytic thrombocytopenia, Anteverted nares, Aplasia/Hypoplasia of the eyebrow, Atrial septal defect, Autosomal dominant inheritance, Biparietal narrowing, Brachydactyly, Brittle hair, Cavernous hemangioma, Clinodactyly, Coarctation of aorta, Coarse facial features, Cryptorchidism, Cubitus valgus, Curly hair, Cystic hygroma, Deep palmar crease, Dental malocclusion, Depressed nasal bridge, Downslanted palpebral fissures, Dry skin, Dystrophic fingernails, EEG abnormality, Epicanthus, Excessive wrinkled skin, Failure to thrive, Failure to thrive in infancy, Feeding difficulties in infancy, Fine hair, Frontal bossing, Full cheeks, Generalized hyperpigmentation, Global developmental delay, Heat intolerance, Heterogeneous, High forehead, High palate, High, narrow palate, Hyperextensible skin, Hyperhidrosis, Hyperkeratosis pilaris, Hypertelorism, Hypertrophic cardiomyopathy, Hypoplasia of the zygomatic bone, Ichthyosis, Intellectual disability, Kyphoscoliosis, Long face, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set, posteriorly rotated ears, Lymphedema, Macrocephaly, Macrotia, Male infertility, Micrognathia, Multiple cafe-au-lait spots, Multiple lentigines, Muscular hypotonia, Myopia, Neurofibrosarcoma, Nystagmus, Palmoplantar keratoderma, Patent ductus arteriosus, Pectus excavatum, Pectus excavatum of inferior sternum, Postnatal growth retardation, Premature birth, Ptosis, Pulmonic stenosis, Radial deviation of finger, Reduced bone mineral density, Reduced factor XII activity, Reduced factor XIII activity, Scoliosis, Seizures, Sensorineural hearing impairment, Shield chest, Short neck, Short nose, Short stature, Slow-growing hair, Sparse hair, Sparse or absent eyelashes, Strabismus, Superior pectus carinatum, Synovitis, Thickened helices, Triangular face, Underdeveloped supraorbital ridges, Ventricular septal defect, Webbed neck, Wide mouth
U4	ZFAND2B	1.097079877	2.54E-07	Unclassified	BrainSpLMD|130617	OMIM|613474
U4	RRP12	1.449446296	2.54E-07	Unclassified	BrainSpLMD|23223	OMIM|617723
U4	CAMSAP3	1.252573691	2.56E-07	Unclassified		OMIM|612685
U4	SELK	0.445594916	2.57E-07			
U4	ADNP	0.630426169	2.58E-07	Transcription factor	BrainSpLMD|23394;BrainSpMouseDev|11325	SFARI||Autism, 1 - High confidence;OMIM|611386;HPO|23394|Autistic behavior, Autosomal dominant inheritance, Cleft eyelid, Downslanted palpebral fissures, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hyperactivity, Hypermetropia, Infantile onset, Intellectual disability, Joint laxity, Language impairment, Obesity, Obsessive-compulsive behavior, Prominent forehead, Ptosis, Recurrent infections, Short nose, Short stature, Small hand, Smooth philtrum, Stereotypy, Strabismus, Thin upper lip vermilion, Visual impairment, Wide nasal bridge
U4	MEG8	1.002326301	2.67E-07			OMIM|613648
U4	COG1	0.546084249	2.68E-07	Structural protein	BrainSpLMD|9382;Eurexp|euxassay_004669|marginal layer	OMIM|606973;HPO|9382|Abnormal isoelectric focusing of serum transferrin, Autosomal recessive inheritance, Butterfly vertebrae, Failure to thrive in infancy, Global developmental delay, Low-set, posteriorly rotated ears, Muscular hypotonia, Osteopenia, Postnatal growth retardation, Progressive microcephaly, Rhizomelia, Smooth philtrum, Talipes equinovarus, Vertebral segmentation defect
U4	G6PC3	0.860078998	2.78E-07	Enzyme: Phosphatase	BrainSpLMD|92579;Eurexp|euxassay_000619|olfactory, ventricular layer	OMIM|611045;HPO|92579|Anemia, Atrial septal defect, Autosomal recessive inheritance, Broad thumb, Cleft palate, Clinodactyly, Cryptorchidism, Erythroid hypoplasia, Failure to thrive, Growth delay, Hearing impairment, Hepatomegaly, High palate, Hypoplasia of the thymus, Lymphopenia, Microcephaly, Mitral regurgitation, Monocytosis, Neutropenia, Patent ductus arteriosus, Pectus carinatum, Phenotypic variability, Pulmonary arterial hypertension, Pulmonic stenosis, Recurrent bacterial infections, Recurrent respiratory infections, Respiratory insufficiency, Sepsis, Single transverse palmar crease, Splenomegaly, Thrombocytopenia, Varicose veins, Wide nasal bridge
U4	RWDD2B	1.870296233	2.90E-07	Unclassified;Enzyme: Phosphatase	BrainSpLMD|10069	
U4	ZNF286A	1.284475311	2.92E-07	DNA binding protein	BrainSpLMD|57335	
U4	SPAG1	0.498590865	2.92E-07	GTPase	BrainSpLMD|6674	OMIM|603395;HPO|6674|Autosomal recessive inheritance, Bronchiectasis, Chronic bronchitis, Ciliary dyskinesia, Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Respiratory insufficiency due to defective ciliary clearance, Rhinitis, Sinusitis, Situs inversus totalis
U4	MCAM	0.423130185	2.99E-07	Adhesion molecule	BrainSpLMD|4162	OMIM|155735
U4	MRPS12	0.579166357	3.01E-07	Ribosomal subunit	BrainSpLMD|6183	OMIM|603021
U4	STK39	1.565129749	3.25E-07	Serine/threonine kinase	BrainSpLMD|27347	SFARI||Autism, 4 - Minimal evidence;OMIM|607648
U4	AC012146.7	1.768630754	3.34E-07			
U4	KIAA0355	0.278786801	3.34E-07	Unclassified	BrainSpLMD|9710;Eurexp|euxassay_011009|lung, ovary	
U4	DNPH1	1.818009015	3.38E-07	Unclassified	BrainSpLMD|10591	
U4	DDX17	0.616744739	3.40E-07	RNA helicase;ATPase	BrainSpLMD|10521;Eurexp|euxassay_018724|cortex, ductus deferens, mantle layer, marginal layer, metanephros, pancreas, renal/urinary system, retina	OMIM|608469
U4	LEMD1	1.269943746	3.44E-07	Unclassified	BrainSpLMD|93273	OMIM|610480
U4	PCBP4	1.235231609	3.46E-07	RNA binding protein	BrainSpLMD|57060;Eurexp|euxassay_004531|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|608503
U4	TRMT112	0.724760552	3.53E-07	Unclassified	BrainSpLMD|51504;Eurexp|euxassay_005921|embryo	
U4	ABI2	0.862496386	3.58E-07	Adapter molecule	BrainSpLMD|10152	OMIM|606442
U4	ANKRD13B	1.120310835	3.66E-07	Unclassified	BrainSpLMD|124930	OMIM|615124
U4	NEK5	0.652849968	3.97E-07	Serine/threonine kinase	BrainSpLMD|341676;Eurexp|euxassay_011536|choroid invagination, choroid plexus, roof plate	OMIM|616731
U4	ABCA3	0.558043885	4.08E-07	Transport/cargo protein	BrainSpLMD|21;Eurexp|euxassay_009339|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|601615;HPO|21|Alveolar proteinosis, Apnea, Autosomal recessive inheritance, Congenital onset, Desquamative interstitial pneumonitis, Failure to thrive, Heterogeneous, Respiratory distress, Respiratory failure, Tachypnea
U4	CCNJ	1.739714686	4.10E-07	Cell cycle control protein	BrainSpLMD|54619	
U4	MBOAT7	0.572956456	4.22E-07	Integral membrane protein	BrainSpLMD|79143;Eurexp|euxassay_003110|glossopharyngeal IX, submandibular gland primordium, trigeminal V	SFARI||Autism, 2 - Strong candidate;OMIM|606048;HPO|79143|Autosomal recessive inheritance, Congenital onset, Febrile seizures, Focal seizures, Generalized hypotonia, Generalized myoclonic seizures, Global developmental delay, Inability to walk, Muscular hypotonia of the trunk, Polymicrogyria
U4	MYO18A	1.322902369	4.39E-07	Structural protein	BrainSpLMD|399687;Eurexp|euxassay_009374|brain, diaphragm, facial VII, glossopharyngeal IX, molar, rest of mesenchyme, skeletal muscle, spinal cord, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|610067
U4	LEPREL4	1.531030417	4.42E-07			
U4	AC093323.3	1.005850176	4.43E-07			
U4	ZNF490	0.866870817	4.85E-07	DNA binding protein	BrainSpLMD|57474	
U4	LPXN	0.496979029	4.87E-07	Adapter molecule	BrainSpLMD|9404	OMIM|605390
U4	TMEM222	0.372798931	4.93E-07	Unclassified	BrainSpLMD|84065	
U4	POMT1	0.441677277	5.00E-07	Enzyme: Mannosyltransferase	BrainSpLMD|10585	SFARI||Autism, 4 - Minimal evidence;OMIM|607423;HPO|10585|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Abnormality of the voice, Absent septum pellucidum, Absent speech, Agenesis of corpus callosum, Anal atresia, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Atresia of the external auditory canal, Autosomal recessive inheritance, Blindness, Buphthalmos, Cataract, Cerebellar dysplasia, Cerebellar hypoplasia, Chorioretinal dysplasia, Cleft palate, Cleft upper lip, Cognitive impairment, Coloboma, Congenital contracture, Congenital muscular dystrophy, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Difficulty climbing stairs, Difficulty walking, EEG abnormality, EMG abnormality, Easy fatigability, Elevated serum creatine phosphokinase, Enlarged cisterna magna, Excessive daytime sleepiness, Facial palsy, Flexion contracture, Gait disturbance, Glaucoma, Global developmental delay, Heterogeneous, Hydrocephalus, Hypertonia, Hypoplasia of penis, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplastic male external genitalia, Hyporeflexia, Inability to walk, Infantile onset, Intellectual disability, Intellectual disability, profound, Intellectual disability, severe, Limb-girdle muscle weakness, Lissencephaly, Lumbar hyperlordosis, Macrocephaly, Macroglossia, Macrogyria, Megalocornea, Meningoencephalocele, Metatarsus valgus, Microcephaly, Microphthalmia, Microtia, Motor delay, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Myopathy, Myopia, Neurological speech impairment, Occipital encephalocele, Optic atrophy, Optic nerve hypoplasia, Pachygyria, Peters anomaly, Phenotypic variability, Polymicrogyria, Posterior fossa cyst, Renal dysplasia, Retinal atrophy, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Seizures, Severe muscular hypotonia, Skeletal muscle atrophy, Slow progression, Specific learning disability, Spinal rigidity, Strabismus, Thick cerebral cortex, Type II lissencephaly, Variable expressivity, Visual impairment
U4	PLEKHM1	0.832139082	5.23E-07	Adapter molecule	BrainSpLMD|9842	OMIM|611466;HPO|9842|Autosomal recessive inheritance, Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Osteopetrosis
U4	PPP3CC	0.787333199	5.43E-07	Serine/threonine phosphatase;ATPase	BrainSpLMD|5533	OMIM|114107
U4	TLK1	0.553881046	5.53E-07	Serine/threonine kinase	BrainSpLMD|9874	OMIM|608438
U4	RUVBL1	0.315624197	5.69E-07	DNA binding protein	BrainSpLMD|8607	OMIM|603449
U4	NPIPA8	0.50288678	5.71E-07			
U4	PROSER1	1.396467939	5.96E-07	Unclassified	BrainSpLMD|80209	
U4	MAST2	0.442931691	7.55E-07	Serine/threonine kinase	BrainSpLMD|23139	OMIM|612257
U4	RPS2P5	0.835508959	7.61E-07			
U4	P4HTM	0.709603918	7.78E-07	Enzyme: Hydroxylase	BrainSpLMD|54681	OMIM|614584
U4	TTC7B	0.417126225	8.57E-07	Unclassified		
U4	RP4.633I8.4	1.223603675	8.70E-07			
U4	CPT1A	1.209941115	9.33E-07	Enzyme: Palmitoyltransferase	BrainSpLMD|1374;Eurexp|euxassay_017982|adrenal gland, bladder, choroid plexus, dorsal root ganglion, glossopharyngeal IX, hindgut, intermediate grey horn, mantle layer, meninges, metanephros, midgut, pancreas, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|600528;HPO|1374|Arrhythmia, Autosomal recessive inheritance, Behavioral abnormality, Cardiomegaly, Coma, Diarrhea, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Fatigue, Feeding difficulties in infancy, Generalized hypotonia, Hemiplegia/hemiparesis, Hepatic failure, Hepatic steatosis, Hepatomegaly, Hyperammonemia, Hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Loss of consciousness, Muscular hypotonia, Neurological speech impairment, Prenatal maternal abnormality, Recurrent encephalopathy, Reduced tendon reflexes, Renal tubular acidosis, Seizures, Skeletal muscle atrophy, Transient hyperlipidemia
U4	GPR75.ASB3	0.790746816	9.34E-07			
U4	METTL2B	0.625250896	9.46E-07	Enzyme: Methyltransferase	BrainSpLMD|55798	OMIM|607846
U4	PAFAH1B3	0.370224816	9.49E-07	Enzyme: Acyltransferase	BrainSpLMD|5050	OMIM|603074
U4	GPR137B	0.696140232	9.87E-07	G protein coupled receptor	BrainSpLMD|7107;Eurexp|euxassay_002728|lens, mandible, maxilla	OMIM|604658
U4	CRSP8P	1.801356145	1.02E-06			
U4	TRIM3	1.036461732	1.03E-06	Anchor protein	BrainSpLMD|10612	OMIM|605493
U4	TBL1X	0.904440507	1.07E-06	Cell cycle control protein	BrainSpLMD|6907	SFARI||Autism, 4 - Minimal evidence;OMIM|300196
U4	HP08942	0.743757295	1.13E-06			
U4	ZNRD1	0.254989985	1.14E-06	Transcription factor	BrainSpLMD|30834	OMIM|607525
U4	FAM199X	0.256592069	1.16E-06	Unclassified	BrainSpLMD|139231;Eurexp|euxassay_003359|dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, left lung, right lung, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	
U4	CAPZA1	1.841412585	1.22E-06	Structural protein	BrainSpLMD|829;Eurexp|euxassay_000273|head mesenchyme, lung	OMIM|601580
U4	CDKAL1	0.824284472	1.23E-06	Unclassified	BrainSpLMD|54901;Eurexp|euxassay_005580|olfactory	OMIM|611259
U4	UBQLN1	0.299984634	1.23E-06	Ubiquitin proteasome system protein	BrainSpLMD|29979	OMIM|605046
U4	SRSF1	0.261255017	1.27E-06	RNA binding protein	BrainSpLMD|6426	OMIM|600812
U4	DVL2	1.134243999	1.30E-06	Adapter molecule	BrainSpLMD|1856;BrainSpMouseDev|13322	OMIM|602151
U4	SEPW1	0.302482439	1.35E-06			
U4	LTV1	0.27949129	1.38E-06	Unclassified	BrainSpLMD|84946;Eurexp|euxassay_005967|axial skeleton, basioccipital bone, basisphenoid bone, cervical region, clavicle, digit 2, digit 3, exoccipital bone, femur, fibula, frontal bone primordium, naris, nasal septum, orbito-sphenoid, parietal bone, petrous part, rib, sternum, temporal bone, tibia, turbinate bones, vomeronasal organ	
U4	CCDC43	0.348601764	1.39E-06	Unclassified	BrainSpLMD|124808	
U4	CYP20A1	0.442811305	1.60E-06	Enzyme: Oxygenase	BrainSpLMD|57404;Eurexp|euxassay_012299|mandible, mantle layer, maxilla, orbito-sphenoid	
U4	RP11.579O24.1	1.131561136	1.63E-06			
U4	SLC7A1	0.370092818	1.64E-06	Membrane transport protein	BrainSpLMD|6541;Eurexp|euxassay_012248|adrenal gland, incisor, mandible, mantle layer, meninges, molar, orbito-sphenoid, submandibular gland primordium, temporal bone, turbinate, vibrissa	OMIM|104615
U4	GTF3C3	1.383068907	1.70E-06	Transcription factor	BrainSpLMD|9330;Eurexp|euxassay_015986|testis	OMIM|604888
U4	STX18	0.859380163	1.82E-06	Membrane transport protein	BrainSpLMD|53407;Eurexp|euxassay_003103|incisor, limb, molar, skin	OMIM|606046
U4	GPSM1	0.869732071	1.84E-06	GTPase activating protein	BrainSpLMD|26086;Eurexp|euxassay_002140|brain, cervical, cervico-thoracic, dorsal root ganglion, spinal cord, thoracic	OMIM|609491
U4	CUL9	1.028870741	2.03E-06	Ubiquitin proteasome system protein	BrainSpLMD|23113	OMIM|607489
U4	PDIA4	0.68531915	2.06E-06	Chaperone	BrainSpLMD|9601;Eurexp|euxassay_000803|basal plate, telencephalon, ventricular layer	
U4	MRFAP1L1	2.292290279	2.09E-06	Unclassified	BrainSpLMD|114932	
U4	CBX6	0.462224248	2.09E-06	DNA binding protein	BrainSpLMD|23466	OMIM|617438
U4	RPLP0P6	0.339920908	2.13E-06			
U4	MAPK8IP2	0.750208399	2.25E-06	Adapter molecule	BrainSpLMD|23542;Eurexp|euxassay_018553|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, brain, cervical, cervico-thoracic, clavicle, facial VII, femur, fibula, glossopharyngeal IX, humerus, nasal septum, neural retina, olfactory, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, spinal cord, tibia, trigeminal V, turbinate bones, ulna, vagus X, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, 5 - Hypothesized but untested;OMIM|607755
U4	ACIN1	0.439263692	2.31E-06	DNA binding protein	BrainSpLMD|22985	OMIM|604562
U4	ABCB9	1.827853781	2.41E-06	Membrane transport protein	BrainSpLMD|23457;Eurexp|euxassay_008420|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|605453
U4	LSM7	1.497914087	2.44E-06	RNA binding protein	BrainSpLMD|51690	OMIM|607287
U4	RPL22	0.537384392	2.64E-06	Ribosomal subunit	BrainSpLMD|6146	OMIM|180474;COSMIC||AML, CML
U4	TBC1D22A	0.589258203	2.65E-06	GTPase activating protein	BrainSpLMD|25771	OMIM|616879
U4	EIF2S3	1.563917253	2.65E-06	Translation regulatory protein	BrainSpLMD|1968;Eurexp|euxassay_003509|diaphragm, head mesenchyme, mesenchyme, skeletal muscle, vertebral axis muscle system	OMIM|300161;HPO|1968|Aggressive behavior, Agitation, Babinski sign, Broad nasal tip, Cleft lip, Cleft palate, Cryptorchidism, Delayed puberty, Delayed speech and language development, Depressed nasal tip, Difficulty walking, Downturned corners of mouth, Drooling, EEG abnormality, Full cheeks, Gait ataxia, Generalized hypotonia, Global developmental delay, Growth delay, Growth hormone deficiency, Hyperreflexia, Hypertonia, Hypoglycemia, Hypogonadism, Hypoplasia of the corpus callosum, Inability to walk, Intellectual disability, Intellectual disability, severe, Large earlobe, Long face, Long philtrum, Macrotia, Microcephaly, Micropenis, Muscular hypotonia, Myopia, Nystagmus, Obesity, Open mouth, Poor speech, Round face, Seizures, Severe global developmental delay, Short stature, Sloping forehead, Spastic tetraparesis, Strabismus, Talipes equinovarus, Tall chin, Tapered finger, Thick vermilion border, Variable expressivity, Ventriculomegaly, Widely spaced teeth, X-linked recessive inheritance
U4	BRD1	0.739952334	2.66E-06	Transcription factor	BrainSpLMD|23774;Eurexp|euxassay_013161|olfactory	OMIM|604589
U4	SERPINE2	0.417860173	2.75E-06	Protease inhibitor	BrainSpLMD|5270;Eurexp|euxassay_007870|axial skeleton, dorsal root ganglion, glossopharyngeal IX, incisor, lip, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metatarsus, nasal septum, penis, phalanx, skeletal muscle, sternum, thymus primordium, trigeminal V, turbinate bones, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|177010
U4	PTBP1	1.027645549	2.76E-06	Ribonucleoprotein	BrainSpLMD|5725	OMIM|600693
U4	GGT7	0.973036196	2.81E-06	Enzyme: Transferase	BrainSpLMD|2686;Eurexp|euxassay_003479|cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, olfactory, penis, respiratory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612342
U4	PA2G4	0.26211854	2.88E-06	Transcription regulatory protein	BrainSpLMD|5036	OMIM|602145
U4	SAR1A	1.3005414	2.93E-06	GTPase	BrainSpLMD|56681;Eurexp|euxassay_004471|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|607691
U4	TMEM5	0.296413542	3.06E-06	Integral membrane protein	BrainSpLMD|10329	OMIM|605862;HPO|10329|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Absent septum pellucidum, Agenesis of corpus callosum, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Autosomal recessive inheritance, Cerebellar dysplasia, Cerebellar hypoplasia, Chorioretinal dysplasia, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Glaucoma, Global developmental delay, Gonadal dysgenesis, Hydrocephalus, Hypoplasia of penis, Hyporeflexia, Intellectual disability, Lissencephaly, Macrocephaly, Macrogyria, Metatarsus valgus, Microphthalmia, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Optic atrophy, Pachygyria, Polymicrogyria, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Skeletal muscle atrophy, Specific learning disability, Type II lissencephaly
U4	MDM4	0.312035629	3.25E-06	Ubiquitin proteasome system protein	BrainSpLMD|4194	OMIM|602704;COSMIC||glioblastoma, bladder, retinoblastoma
U4	APH1A	0.784281036	4.01E-06	Integral membrane protein	BrainSpLMD|51107;BrainSpMouseDev|86431	SFARI||Autism, 3 - Suggestive evidence;OMIM|607629
U4	HNRNPF	0.477215614	4.24E-06	Ribonucleoprotein	BrainSpLMD|3185	OMIM|601037
U4	ZNF609	0.543627596	4.30E-06	Unclassified		OMIM|617474
U4	MAD1L1	0.516679453	4.43E-06	Transcription regulatory protein;Unclassified	BrainSpLMD|8379	OMIM|602686;HPO|8379|Autosomal dominant inheritance, Prostate cancer
U4	MIR4458HG	0.689165933	4.47E-06			
U4	DGKD	0.47618991	4.57E-06	Enzyme: Phosphotransferase	BrainSpLMD|8527	OMIM|601826
U4	WDR54	0.344022919	4.69E-06	Unclassified	BrainSpLMD|84058;Eurexp|euxassay_007433|embryo	
U4	PDE9A	0.259257931	4.78E-06	Enzyme: Phosphodiesterase	BrainSpLMD|5152;Eurexp|euxassay_005191|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, epithelium, glossopharyngeal IX, incisor, limb, lung, mesenchyme, metanephros, midgut, molar, naris, olfactory, oral epithelium, rectum, retina, spinal cord, stomach, submandibular gland primordium, tail, trigeminal V, vestibulocochlear VIII	OMIM|602973
U4	THAP3	0.483875936	5.31E-06	DNA binding protein	BrainSpLMD|90326	OMIM|612532
U4	MAPK1IP1L	0.624393393	5.48E-06	Unclassified	BrainSpLMD|93487	OMIM|617226
U4	RABAC1	0.786178588	5.53E-06	GTPase activating protein	BrainSpLMD|10567;Eurexp|euxassay_000239|dorsal root ganglion, facial VII, glossopharyngeal IX, medulla oblongata, metencephalon, spinal, spinal cord, trigeminal V, vagus X	OMIM|604925
U4	YAP1	0.875310473	5.59E-06	Transcription regulatory protein	BrainSpLMD|10413	OMIM|606608;HPO|10413|Autosomal dominant inheritance, Bilateral cleft lip and palate, Chorioretinal coloboma, Hematuria, Intellectual disability, Iris coloboma, Microphthalmia, Sensorineural hearing impairment
U4	THOC7	0.435803787	5.62E-06	Unclassified	BrainSpLMD|80145;Eurexp|euxassay_012036|submandibular gland primordium, ventricular layer, vibrissa	OMIM|611965
U4	EXTL3	0.262241057	5.69E-06	Enzyme: Glucosaminyltransferase	BrainSpLMD|2137;Eurexp|euxassay_008608|cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, pancreas, pharyngo-tympanic tube, sublingual gland primordium, submandibular gland primordium, trigeminal V, vagus X, valve, vestibulocochlear VIII	OMIM|605744;HPO|2137|Autosomal recessive inheritance, Brachydactyly, Broad nasal tip, Coarse facial features, Coxa valga, Decreased antibody level in blood, Delayed ossification of carpal bones, Depressed nasal bridge, Dislocated radial head, Disproportionate short stature, Eosinophilia, Epiphyseal dysplasia, Full cheeks, Hypoplasia of the capital femoral epiphysis, Intellectual disability, Kyphoscoliosis, Metaphyseal dysplasia, Motor delay, Narrow greater sacrosciatic notches, Platyspondyly, Prominent nose, Recurrent infections, Single transverse palmar crease
U4	RP11.43D2.2	0.902163135	6.18E-06			
U4	RAD51D	0.498077371	6.70E-06	DNA repair protein	BrainSpLMD|5892	OMIM|602954;HPO|5892|Abnormality of the fallopian tube, Breast carcinoma, Ovarian neoplasm, Primary peritoneal carcinoma
U4	OPCML	0.292372503	7.01E-06	Adhesion molecule	BrainSpLMD|4978;Eurexp|euxassay_011103|dorsal root ganglion, epithalamus, facial VII, glossopharyngeal IX, mantle layer, marginal layer, tongue, trigeminal V	OMIM|600632
U4	PSMD7	0.594190353	7.64E-06	Ubiquitin proteasome system protein	BrainSpLMD|5713	OMIM|157970
U4	MT.TP	0.353601013	7.83E-06			
U4	TCEA1P2	1.141233883	8.30E-06			
U4	PGRMC2	0.279297747	8.42E-06	Integral membrane protein	BrainSpLMD|10424;Eurexp|euxassay_007705|facial VII, mantle layer, pharyngo-tympanic tube, submandibular gland primordium, trigeminal V, vagus X;BrainSpMouseDev|46645	OMIM|607735
U4	DUSP8	1.08258413	9.31E-06	Dual specificity phosphatase	BrainSpLMD|1850	OMIM|602038
U4	KLHL36	0.497943524	9.41E-06	Unclassified	BrainSpLMD|79786	
U4	RAB11FIP4	0.279105913	9.46E-06	Membrane transport protein	BrainSpLMD|84440;Eurexp|euxassay_009634|Meckel's cartilage, axial skeleton, basisphenoid bone, clavicle, cricoid, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, forebrain, glossopharyngeal IX, hindbrain, hip, humerus, mandible, metatarsus, midbrain, nasal septum, neural retina, orbito-sphenoid, otic capsule, petrous part, radius, rib, scapula, spinal cord, tarsus, thymus primordium, thyroid, tibia, trigeminal V, turbinate, vagus X	OMIM|611999
U4	SRSF9	0.497117092	9.59E-06	RNA binding protein	BrainSpLMD|8683	OMIM|601943
U4	GABARAPL1	0.710477441	9.67E-06	Unclassified	BrainSpLMD|23710;Eurexp|euxassay_007032|axial skeleton, calyces, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mesentery, neural retina, olfactory, pelvis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607420
U4	GDI1	0.777983188	9.73E-06	GTPase activating protein	BrainSpLMD|2664;Eurexp|euxassay_004022|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|300104;HPO|2664|Generalized hypotonia, Global developmental delay, Intellectual disability, X-linked dominant inheritance, X-linked inheritance
U4	ACMSD	0.86590032	1.00E-05	Enzyme: Decarboxylase	BrainSpLMD|130013	OMIM|608889
U4	ZNF121	0.713297088	1.03E-05	DNA binding protein	BrainSpLMD|7675	OMIM|194628
U4	AP2A1	1.428923279	1.03E-05	Transport/cargo protein	BrainSpLMD|160;Eurexp|euxassay_012511|dorsal root ganglion, facial VII, glossopharyngeal IX, liver, trigeminal V, vagus X	OMIM|601026
U4	ARHGEF40	0.909629433	1.03E-05		BrainSpLMD|55701	OMIM|610018
U4	RRP15	0.982177384	1.05E-05	Unclassified	BrainSpLMD|51018	OMIM|611193
U4	OPN1SW	0.615359108	1.07E-05	G protein coupled receptor	BrainSpLMD|611	OMIM|613522;HPO|611|Abnormal light-adapted electroretinogram, Autosomal dominant inheritance, Tritanomaly
U4	TCF7L1	0.907140812	1.08E-05	Transcription regulatory protein	BrainSpLMD|83439;BrainSpMouseDev|21176	OMIM|604652
U4	SLC30A5	0.51283154	1.11E-05	Transport/cargo protein	BrainSpLMD|64924;Eurexp|euxassay_010448|clavicle, mandible, maxilla, orbito-sphenoid, rib, submandibular gland primordium, turbinate	SFARI||Autism, 5 - Hypothesized but untested;OMIM|607819
U4	HDAC2	0.891445223	1.15E-05	Transcription regulatory protein	BrainSpLMD|3066;BrainSpMouseDev|14958	OMIM|605164
U4	EP400NL	0.411138449	1.21E-05			
U4	ILKAP	0.322167253	1.24E-05	Serine/threonine phosphatase	BrainSpLMD|80895	
U4	DDR2	1.286916951	1.30E-05	Receptor tyrosine kinase	BrainSpLMD|4921;Eurexp|euxassay_010957|mandible, maxilla, midgut, oesophagus, stomach;BrainSpMouseDev|17981	OMIM|191311;COSMIC||squamous cell carcinoma, NSCLC, Spondylometaepiphyseal dysplasia, short limb-hand type;HPO|4921|Abnormal calcification of the carpal bones, Abnormality of the neck, Anterior rib cupping, Atlantoaxial instability, Autosomal recessive inheritance, Bell-shaped thorax, Bowing of the legs, Broad metacarpals, Broad phalanx, C1-C2 subluxation, Calcification of falx cerebri, Depressed nasal bridge, Disproportionate short-limb short stature, Elbow flexion contracture, Epiphyseal stippling, Flared iliac wings, Flared metaphysis, Frontal bossing, Generalized hypotonia, Global developmental delay, High palate, Hip subluxation, Hypertelorism, Hypoplasia of the odontoid process, Knee flexion contracture, Long fibula, Malar flattening, Metatarsus adductus, Micrognathia, Micromelia, Midface retrusion, Muscular hypotonia, Pectus excavatum, Platyspondyly, Posterior rib cupping, Progressive calcification of costochondral cartilage, Proptosis, Recurrent pneumonia, Restrictive ventilatory defect, Scoliosis, Short long bone, Short metacarpal, Short nose, Short phalanx of finger, Short ribs, Spinal cord compression, Spondyloepimetaphyseal dysplasia, Syringomyelia, Thoracic hypoplasia, Tracheal calcification, Triangular shaped distal phalanges of the hand
U4	APOPT1	0.608148028	1.37E-05	Unclassified	BrainSpLMD|84334	OMIM|616003;HPO|84334|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
U4	GLRX5	0.799163617	1.38E-05	Enzyme: Oxidoreductase	BrainSpLMD|51218	OMIM|609588;HPO|51218|Anemia, Anisocytosis, Autosomal recessive inheritance, Babinski sign, Conjugated hyperbilirubinemia, Decreased activity of the pyruvate dehydrogenase complex, Decreased mean corpuscular volume, Dysarthria, Elevated hepatic iron concentration, Elevated hepatic transaminases, Erythroid hyperplasia, Gait disturbance, Hepatomegaly, Hepatosplenomegaly, Heterogeneous, Hyperglycinemia, Hyperreflexia, Hypoplasia of the corpus callosum, Increased serum ferritin, Infantile onset, Jaundice, Leukodystrophy, Nystagmus, Optic atrophy, Seizures, Spastic ataxia, Spastic diplegia, Splenomegaly, Strabismus, Type II diabetes mellitus, Visual impairment
U4	MSI1	0.310422283	1.42E-05	RNA binding protein	BrainSpLMD|4440	OMIM|603328
U4	IFI27L2	1.001434367	1.48E-05	Integral membrane protein	BrainSpLMD|83982;Eurexp|euxassay_012919|adrenal gland, testis	OMIM|611319
U4	STON2	1.51150832	1.53E-05	Unclassified	BrainSpLMD|85439	OMIM|608467
U4	TOMM7	2.665544916	1.54E-05	Transport/cargo protein	BrainSpLMD|54543	OMIM|607980
U4	C19orf43	0.766638069	1.60E-05			
U4	PPP1R18	4.054744706	1.69E-05	Unclassified	BrainSpLMD|170954;Eurexp|euxassay_006379|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610990
U4	RAPH1	0.574428508	1.86E-05	Cytoskeletal associated protein	BrainSpLMD|65059	OMIM|609035
U4	MTHFD2L	0.318273863	2.11E-05	Enzyme: Dehydrogenase	BrainSpLMD|441024	OMIM|614047
U4	RP3.449O17.1	0.720687182	2.40E-05			
U4	NAP1L1	0.999756334	2.48E-05	Transcription regulatory protein	BrainSpLMD|4673;Eurexp|euxassay_005511|nucleus pulposus	OMIM|164060
U4	RP11.318C24.2	0.531491157	2.53E-05			
U4	MRPS15	0.473666709	2.54E-05	Ribosomal subunit	BrainSpLMD|64960;Eurexp|euxassay_002880|basal plate, dorsal root ganglion, submandibular gland primordium, trigeminal V	OMIM|611979
U4	CLCN6	0.431829115	2.59E-05	Voltage gated channel	BrainSpLMD|1185;Eurexp|euxassay_008300|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602726
U4	NOMO1	0.723871877	2.69E-05	Growth inhibitory factor		OMIM|609157
U4	TYK2	0.650143415	2.70E-05	Tyrosine kinase	BrainSpLMD|7297	OMIM|176941;HPO|7297|Antinuclear antibody positivity, Apraxia, Arthralgia, Autosomal recessive inheritance, Dental malocclusion, Elevated C-reactive protein level, Elevated erythrocyte sedimentation rate, Immunodeficiency, Increased IgE level, Iridocyclitis, Joint dislocation, Joint swelling, Juvenile rheumatoid arthritis, Limitation of joint mobility, Polyarticular arthritis, Recurrent fungal infections, Recurrent mycobacterial infections, Recurrent respiratory infections, Recurrent viral infections
U4	CPSF3L	0.261932494	2.72E-05			
U4	EIF3CL	0.645975864	2.72E-05			
U4	BCAT2	1.046568773	2.73E-05	Enzyme: Aminotransferase	BrainSpLMD|587	OMIM|113530
U4	REST	1.011401168	2.81E-05	Transcription regulatory protein	BrainSpLMD|5978;BrainSpMouseDev|19475	OMIM|600571;HPO|5978|Abdominal pain, Gingival fibromatosis, Gingival overgrowth, Nephroblastoma
U4	GRB2	0.65560046	2.85E-05	Adapter molecule	BrainSpLMD|2885	OMIM|108355
U4	RPL27	1.556401083	2.86E-05	Ribosomal subunit		OMIM|607526;HPO|6155|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Anemia, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Macrocytic anemia, Migraine, Pallor, Pulmonic stenosis
U4	CRYBB2P1	0.295008836	2.89E-05			
U4	FAM21A	0.451853399	2.95E-05			
U4	ULK1	0.714058302	3.00E-05	Serine/threonine kinase	BrainSpLMD|8408	OMIM|603168
U4	ITGAE	0.532837188	3.26E-05	Cell surface receptor	BrainSpLMD|3682;Eurexp|euxassay_001422|incisor, nasal septum, nucleus pulposus, oesophagus	OMIM|604682
U4	DNAJA2	1.694540326	3.28E-05	Chaperone	BrainSpLMD|10294	OMIM|611322
U4	FAM155A.IT1	0.818366441	3.30E-05			
U4	LPHN1	1.184434525	3.45E-05			
U4	IFRD1	0.642937848	3.69E-05	Regulatory/other subunit	BrainSpLMD|3475;Eurexp|euxassay_003205|axial muscle, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, molar, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|603502
U4	THAP4	0.461482841	3.70E-05	Unclassified	Eurexp|euxassay_002577|submandibular gland primordium	OMIM|612533
U4	RPL11	0.489019498	3.90E-05	Ribosomal subunit	BrainSpLMD|6135	OMIM|604175;HPO|6135|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Atresia of the external auditory canal, Autosomal dominant inheritance, Choanal atresia, Cleft palate, Delayed puberty, Fatigue, Fetal distress, Hearing impairment, Increased mean corpuscular volume, Intrauterine growth retardation, Macrocytic anemia, Migraine, Neutropenia, Osteopenia, Osteoporosis, Pallor, Patent ductus arteriosus, Polyhydramnios, Recurrent otitis media, Scoliosis, Secundum atrial septal defect, Short thumb, Small hypothenar eminence, Sprengel anomaly, Triphalangeal thumb, Ventricular septal defect, Vitamin D deficiency
U4	NCS1	0.359848699	3.91E-05	Calcium binding protein	BrainSpLMD|23413	OMIM|603315
U4	PFDN2	1.035542744	4.13E-05	Chaperone	BrainSpLMD|5202	OMIM|613466
U4	COG8	0.533986351	4.20E-05	Transport/cargo protein	BrainSpLMD|84342	OMIM|606979;HPO|84342|Alternating esotropia, Autosomal recessive inheritance, Cerebellar atrophy, Elevated serum creatine phosphokinase, Elevated serum transaminases during infections, Encephalopathy, Intellectual disability, Muscular hypotonia, Status epilepticus, Ventriculomegaly
U4	DNAH17	0.847568428	4.45E-05	Unclassified	BrainSpLMD|8632	SFARI||Autism, 4 - Minimal evidence;OMIM|610063
U4	SPDYE6	1.265412572	4.52E-05			
U4	GRIPAP1	0.551797043	4.60E-05	Guanine nucleotide exchange factor	Eurexp|euxassay_013593|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, neural retina, olfactory, right lung, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|300408
U4	SMARCD1	0.852307672	4.81E-05	Transcription regulatory protein	BrainSpLMD|6602	OMIM|601735;COSMIC||breast
U4	PKD1P6	0.702211046	5.43E-05			
U4	HIST1H1E	1.029408741	5.59E-05	DNA binding protein	BrainSpLMD|3008;Eurexp|euxassay_005923|embryo	OMIM|142220;HPO|3008|Accelerated skeletal maturation, Amblyopia, Astigmatism, Autosomal dominant inheritance, Camptodactyly, Full cheeks, Global developmental delay, Hypertonia, Intellectual disability, Kyphoscoliosis, Macrocephaly, Neonatal hypotonia, Nevus, Strabismus, Talipes equinovarus, Telecanthus
U4	SEC63	0.253504751	5.65E-05	Transport/cargo protein	BrainSpLMD|11231	OMIM|608648;HPO|11231|Abdominal distention, Abnormality of the cardiovascular system, Abnormality of the nervous system, Adult onset, Ascites, Autosomal dominant inheritance, Back pain, Hepatic cysts, Hepatomegaly, Increased total bilirubin, Multiple renal cysts, Polycystic liver disease, Renal cyst
U4	WTAP	0.67309522	6.24E-05	Unclassified	BrainSpLMD|9589	OMIM|605442
U4	C11orf80	0.536688136	6.41E-05	Unclassified	BrainSpLMD|79703	OMIM|616109
U4	MRPS21	0.272790392	6.48E-05	Ribosomal subunit	BrainSpLMD|54460	OMIM|611984
U4	YRDC	0.521238623	6.53E-05	Unclassified		OMIM|612276
U4	SEC62	0.676635384	6.65E-05	Transport/cargo protein	BrainSpLMD|7095	OMIM|602173
U4	FAM110B	0.29249247	6.67E-05	Unclassified	BrainSpLMD|90362	OMIM|611394
U4	PSMA1	0.755555689	7.00E-05	Protease	BrainSpLMD|5682;Eurexp|euxassay_013664|clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, mandible, metanephros, midgut, molar, naris, neural retina, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, submandibular gland primordium, testis, thymus primordium, thyroid, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|602854
U4	CTNNB1	1.249181187	7.56E-05	Adhesion molecule	BrainSpLMD|1499;BrainSpMouseDev|12172	SFARI||Autism, 3 - Suggestive evidence;OMIM|116806;COSMIC||colorectal, ovarian, hepatoblastoma, pleomorphic salivary gland adenoma, other tumour types;HPO|1499|Abdominal pain, Abnormal hypothalamus morphology, Abnormal visual field test, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Autosomal dominant inheritance, Autosomal recessive inheritance, Bitemporal hemianopia, Breast carcinoma, Central adrenal insufficiency, Central diabetes insipidus, Cerebral calcification, Desmoid tumors, Dysgerminoma, Elevated alpha-fetoprotein, Enlarged pituitary gland, Epigastric pain, Excessive daytime somnolence, Fatigue, Generalized hypotonia, Global developmental delay, Headache, Hepatic fibrosis, Hepatic necrosis, Hepatocellular carcinoma, Hepatomegaly, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hypogonadotrophic hypogonadism, Hypoplasia of the corpus callosum, Incomplete penetrance, Infantile onset, Intellectual disability, Intestinal polyposis, Intracranial cystic lesion, Long philtrum, Malabsorption, Medulloblastoma, Microcephaly, Micronodular cirrhosis, Myalgia, Nausea and vomiting, Neoplasm of the anterior pituitary, Neoplasm of the stomach, Neurological speech impairment, Obesity, Ovarian papillary adenocarcinoma, Papilledema, Pilomatrixoma, Pituitary hypothyroidism, Portal vein thrombosis, Progressive visual field defects, Prolactin excess, Renal cell carcinoma, Slow decrease in visual acuity, Somatic mutation, Spastic diplegia, Strabismus, Subacute progressive viral hepatitis, Subcutaneous nodule, Thin upper lip vermilion, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Vomiting
U4	CTTNBP2NL	0.38264113	7.62E-05	Unclassified	BrainSpLMD|55917;Eurexp|euxassay_003204|axial muscle, bladder, calyces, hindgut, lobe, midgut, oral epithelium, orbito-sphenoid, rectum, stomach, submandibular gland primordium, urethra, vibrissa	OMIM|615100
U4	RAB11FIP3	0.63046036	7.67E-05	GTPase activating protein	BrainSpLMD|9727	OMIM|608738
U4	GCLM	0.560582857	7.88E-05	Enzyme: Ligase	BrainSpLMD|2730;Eurexp|euxassay_018515|left, right	OMIM|601176
U4	FNBP4	1.023727111	8.38E-05	Unclassified	BrainSpLMD|23360	OMIM|615265
U4	NBPF11	0.62711971	8.79E-05	Unclassified	BrainSpLMD|200030	OMIM|614001
U4	IL3RA	0.67400088	8.86E-05	Cytokine receptor		OMIM|430000
U4	SOWAHC	1.097294427	9.00E-05	Unclassified		
U4	SUPT6H	0.324290873	9.05E-05	Transcription factor	BrainSpLMD|6830	OMIM|601333
U4	NDUFB9	0.372950272	9.23E-05	Enzyme: Oxidoreductase	BrainSpLMD|4715	OMIM|601445;HPO|4715|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
U4	MAF1	1.0945976	9.41E-05	Transcription regulatory protein	BrainSpLMD|84232;BrainSpMouseDev|44719	OMIM|610210
U4	ARAF	0.467195478	9.66E-05	Serine/threonine kinase	BrainSpLMD|369	OMIM|311010;COSMIC||cholangiocarcinoma, lung adenocarcinoma, Langerhans cell histiocytosis
U4	E2F5	0.292114093	9.70E-05	Transcription factor	BrainSpLMD|1875;BrainSpMouseDev|13338	OMIM|600967
U4	TRMU	0.573663718	9.96E-05	RNA methyltransferase	BrainSpLMD|55687	OMIM|610230;HPO|55687|Abdominal distention, Abnormality of the coagulation cascade, Acute hepatic failure, Aminoglycoside-induced hearing loss, Autosomal recessive inheritance, Elevated hepatic transaminases, Feeding difficulties in infancy, Generalized hypotonia, Hepatomegaly, Hyperbilirubinemia, Increased serum lactate, Jaundice, Lactic acidosis, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Mitochondrial inheritance, Mitochondrial respiratory chain defects, Vomiting
U4	GKAP1	0.512919052	0.000104411	Anchor protein	BrainSpLMD|80318	OMIM|611356
U4	CXorf40A	0.346998493	0.000108466	Unclassified	BrainSpLMD|91966;Eurexp|euxassay_000235|lung, naris, oesophagus, pituitary, roof plate, urethra	OMIM|300954
U4	ESF1	0.295516348	0.000110872	Unclassified	BrainSpLMD|51575	
U4	MRPS18A	0.830109617	0.000113019	Ribosomal subunit	BrainSpLMD|55168	OMIM|611981
U4	NDUFA3	0.604084785	0.000114068	Enzyme: Oxidoreductase	BrainSpLMD|4696	OMIM|603832
U4	LZTS3	1.004434042	0.000130565		BrainSpLMD|9762;Eurexp|euxassay_011559|metanephros, olfactory	OMIM|610484
U4	PSMA7	1.396618816	0.000151566	Ubiquitin proteasome system protein	BrainSpLMD|5688	OMIM|606607
U4	PITHD1	0.665054276	0.000162826	Unclassified	BrainSpLMD|57095;Eurexp|euxassay_005109|adenohypophysis, brain, cervical, cervico-thoracic, cranial muscle, dorsal root ganglion, glossopharyngeal IX, incisor, liver, lung, metanephros, molar, naris, olfactory, orbito-sphenoid, rectum, respiratory, respiratory tract, spinal cord, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vestibulocochlear VIII, vibrissa	
U4	LPAR2	2.260446919	0.000165642	G protein coupled receptor	BrainSpLMD|9170;Eurexp|euxassay_015522|alar plate, axial muscle, brain, cerebellum, cerebral cortex, dorsal root ganglion, facial VII, ganglion, glossopharyngeal IX, incisor, lateral wall, mantle layer, marginal layer, metanephros, midbrain, oral region, physiological umbilical hernia, rest of alar plate, roof plate, spinal cord, submandibular gland primordium, telencephalon, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|605110
U4	NSMCE4A	0.459621524	0.00016879	Unclassified	BrainSpLMD|54780	OMIM|612987
U4	VGLL4	0.546092667	0.000172501	Transcription regulatory protein	BrainSpLMD|9686;Eurexp|euxassay_000238|incisor, lung, molar, submandibular gland primordium, vibrissa	
U4	HLA.A	0.47563691	0.000174426			
U4	KCNQ2	0.996348528	0.000175302	Voltage gated channel	BrainSpLMD|3785	SFARI||Autism, 3 - Suggestive evidence;OMIM|602235;HPO|3785|Abnormality of the globus pallidus, Abnormality of vision, Apnea, Autosomal dominant inheritance, Cerebral edema, Choreoathetosis, Deeply set eye, Dysesthesia, Dyskinesia, Dystonia, EEG with burst suppression, Epileptic encephalopathy, Epileptic spasms, Facial erythema, Feeding difficulties, Focal clonic seizures, Generalized hypotonia, Generalized tonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Heterogeneous, Hypertonia, Inability to walk, Infantile onset, Intellectual disability, Muscular hypotonia, Myoclonus, Myokymia, Neonatal onset, Pallor, Phenotypic variability, Poor gross motor coordination, Profound global developmental delay, Reduced consciousness/confusion, Seizures, Spastic tetraparesis
U4	FAM192A	0.620986866	0.000176032	Unclassified	BrainSpLMD|80011;Eurexp|euxassay_004902|adenohypophysis, brain, glossopharyngeal IX, incisor, lung, metanephros, molar, olfactory, respiratory, retina, spinal cord, submandibular gland primordium, thymus primordium, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|617766
U4	TMEM205	0.967827961	0.000178837	Unclassified	BrainSpLMD|374882	OMIM|613771
U4	SYNJ2BP	1.107769637	0.000193249	Integral membrane protein	BrainSpLMD|55333	OMIM|609411
U4	JUN	0.354725553	0.000197887	Transcription factor	BrainSpLMD|3725;Eurexp|euxassay_017995|mantle layer, metacarpus, metatarsus, olfactory, phalanx, ventral grey horn, ventricular layer;BrainSpMouseDev|16249	OMIM|165160;COSMIC||sarcoma
U4	ACTN4	1.123309464	0.000200461	Cytoskeletal protein	BrainSpLMD|81	SFARI||Autism, No category;OMIM|604638;HPO|81|Anemia, Autosomal dominant inheritance, Edema, Focal segmental glomerulosclerosis, Hyperlipidemia, Hypertension, Hypoalbuminemia, Incomplete penetrance, Proteinuria, Slow progression, Variable expressivity
U4	RP11.161M6.2	1.240463871	0.00021651			
U4	TSPYL4	0.468892514	0.00023297	Unclassified	BrainSpLMD|23270;Eurexp|euxassay_004360|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
U4	NAMPTL	0.884529771	0.000234923			
U4	ARHGAP23	0.370135235	0.000238695			OMIM|610590
U4	CIRBP	0.512245953	0.000244297	RNA binding protein	BrainSpLMD|1153	OMIM|602649
U4	FAM53B	0.443699876	0.000246921	Unclassified	BrainSpLMD|9679	OMIM|617289
U4	SFPQ	1.27351736	0.000249415	RNA binding protein	BrainSpLMD|6421	OMIM|605199;COSMIC||papillary renal
U4	PHF2	0.514019004	0.000251585	Transcription regulatory protein	BrainSpLMD|5253	SFARI||Autism, 3 - Suggestive evidence;OMIM|604351
U4	GIGYF1	0.427528552	0.000255092	Unclassified	BrainSpLMD|64599;Eurexp|euxassay_007703|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|612064
U4	EEF2	0.805734392	0.000257253	Translation regulatory protein	BrainSpLMD|1938	OMIM|130610;HPO|1938|Adult onset, Autosomal dominant inheritance, Cerebellar atrophy, Dysarthria, Dysmetric saccades, Gait ataxia, Impaired horizontal smooth pursuit, Incoordination, Limb ataxia, Nystagmus, Slow progression, Truncal ataxia
U4	RPL6	0.725405425	0.000288361	Ribosomal subunit	BrainSpLMD|6128	OMIM|603703
U4	TMSB10	0.419418342	0.000295508	Cytoskeletal associated protein	BrainSpLMD|9168	OMIM|188399
U4	SRCAP	0.295452709	0.000298193	Transcription regulatory protein	BrainSpLMD|10847	SFARI||Autism, 2 - Strong candidate;OMIM|611421;HPO|10847|Abnormality of the soft palate, Autosomal dominant inheritance, Brachydactyly, Broad columella, Broad thumb, Bulbous nose, Camptodactyly of finger, Celiac disease, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Congenital pseudoarthrosis of the clavicle, Constipation, Deeply set eye, Delayed skeletal maturation, Downturned corners of mouth, Enlarged joints, Expressive language delay, Feeding difficulties in infancy, Generalized hirsutism, Global developmental delay, High pitched voice, Hirsutism, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Joint stiffness, Long eyelashes, Low posterior hairline, Malabsorption, Nasal speech, Neurological speech impairment, Posteriorly rotated ears, Prominent nose, Recurrent otitis media, Short clavicles, Short neck, Short philtrum, Short stature, Smooth philtrum, Thin vermilion border, Triangular face, Underdeveloped nasal alae, Wide mouth, Wide nasal bridge
U4	CHFR	0.531610202	0.000315301	Enzyme: Ligase	BrainSpLMD|55743	OMIM|605209
U4	KMT2E	0.506630052	0.000317112	Transcription regulatory protein	BrainSpLMD|55904	SFARI||Autism, 3 - Suggestive evidence;OMIM|608444
U4	HMGN2P5	0.288049102	0.000336073			
U4	DLL3	1.390192831	0.000352597	Ligand	BrainSpLMD|10683;BrainSpMouseDev|13168	OMIM|602768;HPO|10683|Abnormal form of the vertebral bodies, Abnormality of immune system physiology, Abnormality of the intervertebral disk, Abnormality of the odontoid process, Autosomal recessive inheritance, Block vertebrae, Death in infancy, Disproportionate short-trunk short stature, Hemivertebrae, Intrauterine growth retardation, Kyphosis, Recurrent respiratory infections, Respiratory insufficiency, Rib fusion, Rib segmentation abnormalities, Scoliosis, Severe short stature, Short neck, Short stature, Short thorax, Vertebral segmentation defect
U4	CALR	0.462894039	0.000354386	Chaperone	BrainSpLMD|811	OMIM|109091;COSMIC||MPN, MDS;HPO|811|Abnormal platelet morphology, Abnormality of the skeletal system, Acrocyanosis, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Chest pain, Hypertension, Impaired platelet aggregation, Increased megakaryocyte count, Myelofibrosis, Myeloproliferative disorder, Myocardial infarction, Paresthesia, Prolonged bleeding time, Somatic mutation, Splenomegaly, Thrombocytosis, Transient ischemic attack, Venous thrombosis
U4	SKIDA1	0.886358877	0.000369814	Unclassified	BrainSpLMD|387640;Eurexp|euxassay_003843|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	
U4	EEF1D	0.253212912	0.000373746	Guanine nucleotide exchange factor	BrainSpLMD|1936	OMIM|130592
U4	TNRC18	0.888462651	0.000383984	Unclassified		
U4	PTMS	1.292487479	0.000384538	DNA binding protein	BrainSpLMD|5763	OMIM|168440
U4	SHFM1	0.526257715	0.000389373			
U4	PIGX	0.605837336	0.000420519	Unclassified	BrainSpLMD|54965	OMIM|610276
U4	IFT57	0.382126145	0.000423736	Unclassified	BrainSpLMD|55081	OMIM|606621
U4	CCDC88C	0.709933082	0.00042686	Protease inhibitor	BrainSpLMD|440193;Eurexp|euxassay_016252|clavicle, femur, humerus, mandible, mantle layer, maxilla, orbito-sphenoid, rib, ventral grey horn	SFARI||Autism, 4 - Minimal evidence;OMIM|611204;HPO|440193|Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Broad-based gait, Congenital onset, Dysarthria, Dysdiadochokinesis, Hydrocephalus, Hyperreflexia, Intellectual disability, Intention tremor, Pontocerebellar atrophy, Seizures, Slow progression, Spastic paraparesis, Unsteady gait, Ventriculomegaly
U4	LYPLA2	0.452151231	0.000431961	Enzyme: Phospholipase	BrainSpLMD|11313;Eurexp|euxassay_000279|dorsal root ganglion, trigeminal V	OMIM|616143
U4	LINC01420	0.266503292	0.00044037			
U4	CDKL1	0.395189113	0.00044704	Serine/threonine kinase	BrainSpLMD|8814;Eurexp|euxassay_009028|calyces, mantle layer	OMIM|603441
U4	PFKFB3	0.82776951	0.000454697	Enzyme: Phosphatase	BrainSpLMD|5209;Eurexp|euxassay_018400|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, incisor, neural retina, orbito-sphenoid, otic capsule, pelvic girdle, rib, scapula, temporal bone, tibia, turbinate, vibrissa	OMIM|605319
U4	UBE2O	0.375069747	0.00045745	Ubiquitin proteasome system protein	BrainSpLMD|63893	OMIM|617649
U4	APLP1	0.667316174	0.000483145	Transcription regulatory protein;Unclassified	BrainSpLMD|333;Eurexp|euxassay_005371|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, male, nasal septum, neural retina, olfactory, respiratory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|11590	OMIM|104775
U4	THBS1	3.057130377	0.000502636	Extracellular matrix protein	BrainSpLMD|7057;Eurexp|euxassay_005711|axial skeleton, clavicle, cranium, footplate, handplate, left lung, lip, liver, mesenchyme, naris, rest of mesenchyme, right lung, sternum, turbinate bones	SFARI||Autism, No category;OMIM|188060
U4	GAB2	0.318240591	0.000515593	Adapter molecule	BrainSpLMD|9846	OMIM|606203
U4	PCBP1.AS1	0.570858424	0.000515731			
U4	RP1.240B8.3	0.793006556	0.000524593			
U4	IKBKB	0.447696672	0.000549399	Serine/threonine kinase	BrainSpLMD|3551	OMIM|603258;COSMIC||SMZL, Immunodeficiency 15;HPO|3551|Agammaglobulinemia, Autosomal recessive inheritance, Chronic diarrhea, Failure to thrive, Immunodeficiency, Infantile onset, Respiratory tract infection
U4	UGCG	0.388340634	0.000552825	Enzyme: Glycosyltransferase	BrainSpLMD|7357	OMIM|602874
U4	SRSF3	0.341636676	0.000555209	RNA binding protein	BrainSpLMD|6428	OMIM|603364;COSMIC||follicular lymphoma
U4	POM121	0.624039887	0.000580706	Integral membrane protein	BrainSpLMD|9883	OMIM|615753
U4	MED12	0.591639721	0.000589837	Transcription regulatory protein	BrainSpLMD|9968;BrainSpMouseDev|37587	SFARI||Autism, 6 - Evidence does not support role;OMIM|300188;COSMIC||uterine leiomyoma, fibroadenoma, phyllodes tumour, Opitz-Kaveggia Syndrome;HPO|9968|Abnormal heart morphology, Abnormality of the genitourinary system, Abnormality of the nasopharynx, Abnormality of the rib cage, Abnormality of the sternum, Abnormally folded helix, Agenesis of corpus callosum, Aggressive behavior, Anal atresia, Anal stenosis, Anteriorly placed anus, Aplasia/Hypoplasia of the corpus callosum, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad hallux, Broad thumb, Bulbous nose, Cafe-au-lait spot, Camptodactyly, Choanal atresia, Cleft palate, Cleft upper lip, Clinodactyly, Coarse facial features, Constipation, Cryptorchidism, Decreased body weight, Deep philtrum, Delayed closure of the anterior fontanelle, Dental crowding, Depressed nasal bridge, Dilatation of ascending aorta, Disproportionate tall stature, Downslanted palpebral fissures, Emotional lability, Epicanthus, Facial wrinkling, Feeding difficulties, Fine hair, Flexion contracture, Frontal bossing, Frontal upsweep of hair, Generalized hypotonia, Global developmental delay, Hearing impairment, Heterotopia, High forehead, High palate, High pitched voice, Hydrocephalus, Hyperactivity, Hypertelorism, Hypoplasia of the maxilla, Hypospadias, Impaired social interactions, Inguinal hernia, Intellectual disability, Intestinal malrotation, Joint contracture of the hand, Joint hyperflexibility, Joint hypermobility, Joint laxity, Long face, Long nose, Long philtrum, Low frustration tolerance, Low-set ears, Lumbar hyperlordosis, Macrocephaly, Macroorchidism, Micrognathia, Microtia, first degree, Motor delay, Multiple joint contractures, Muscular hypotonia, Narrow face, Narrow mouth, Narrow nasal bridge, Narrow palate, Nasal speech, Neonatal hypotonia, Neurological speech impairment, Obsessive-compulsive behavior, Open mouth, Partial agenesis of the corpus callosum, Pectus excavatum, Plagiocephaly, Postnatal macrocephaly, Prominent fingertip pads, Prominent forehead, Prominent nasal bridge, Prominent nose, Psychosis, Ptosis, Pyloric stenosis, Radial deviation of finger, Sacral dimple, Scoliosis, Scrotal hypoplasia, Seizures, Sensorineural hearing impairment, Short neck, Short philtrum, Short stature, Single transverse palmar crease, Skin tags, Smooth philtrum, Sparse hair, Split hand, Strabismus, Syndactyly, Thick lower lip vermilion, Thin upper lip vermilion, Thin vermilion border, Umbilical hernia, Ventricular septal defect, Wide anterior fontanel, Wide mouth, Wide nasal bridge, X-linked recessive inheritance
U4	PLXNB1	0.284401746	0.000598618	Cell surface receptor	BrainSpLMD|5364;BrainSpMouseDev|88096	SFARI||Autism, 3 - Suggestive evidence;OMIM|601053
U4	SENP5	1.295215663	0.000603239	Protease	BrainSpLMD|205564;Eurexp|euxassay_002886|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X	OMIM|612845
U4	JUND	0.776502759	0.000709643	Transcription factor	BrainSpLMD|3727;BrainSpMouseDev|16251	OMIM|165162
U4	CPSF7	0.342411672	0.00072561	Unclassified	BrainSpLMD|79869;Eurexp|euxassay_007331|embryo	
U4	SNRPD3	3.288544622	0.000740576	RNA binding protein	BrainSpLMD|6634	OMIM|601062
U4	PLEKHG4B	1.169273183	0.000873835	Guanine nucleotide exchange factor	BrainSpLMD|153478	
U4	UCHL1	1.478239589	0.000883263	Ubiquitin proteasome system protein	BrainSpLMD|7345;Eurexp|euxassay_007064|cervical, cervico-thoracic, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, hindgut, incisor, medulla, mesenchyme, midgut, neural retina, olfactory, skeletal muscle, stomach, testis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|191342;HPO|7345|Ankle clonus, Autosomal recessive inheritance, Babinski sign, Cerebellar atrophy, Cerebral atrophy, Dysmetria, Fasciculations, Flexion contracture, Head titubation, Myokymia, Myopia, Neurodegeneration, Nystagmus, Optic atrophy, Pes cavus, Pes planus, Progressive, Progressive visual loss, Spastic paraplegia, Tetraparesis
U4	SNRPB2	0.299082976	0.000907002	Ribonucleoprotein	BrainSpLMD|6629;Eurexp|euxassay_003430|submandibular gland primordium, vibrissa	OMIM|603520
U4	PTPRS	0.687878489	0.000928818	Receptor tyrosine phosphatase	BrainSpLMD|5802;Eurexp|euxassay_009779|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|601576
U4	VAPA	2.107243299	0.001034691	Membrane transport protein	BrainSpLMD|9218	OMIM|605703
U4	MT.RNR2	0.590923265	0.001071486			
U4	RNF187	1.033579867	0.001093353	Unclassified		OMIM|613754
U4	DNAJB12	0.301589263	0.001093765	Integral membrane protein	BrainSpLMD|54788	OMIM|608376
U4	SNHG8	0.551935884	0.001113213			
U4	WDR45B	0.37608485	0.001229732	Unclassified	BrainSpLMD|56270	OMIM|609226
U4	KMT2D	0.357076278	0.001245104	Transcription factor	BrainSpLMD|8085;BrainSpMouseDev|120035	OMIM|602113;COSMIC||medulloblastoma, renal;HPO|8085|Abnormal dermatoglyphics, Abnormal vertebral morphology, Abnormality of the cardiac septa, Abnormality of the dentition, Anal atresia, Anal stenosis, Anoperineal fistula, Atrial septal defect, Autoimmune thrombocytopenia, Autosomal dominant inheritance, Blue sclerae, Butterfly vertebrae, Cafe-au-lait spot, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Conductive hearing impairment, Congenital hip dislocation, Congenital hypothyroidism, Crossed fused renal ectopia, Cryptorchidism, Depressed nasal tip, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemivertebrae, Hemolytic anemia, High palate, Highly arched eyebrow, Hirsutism, Hydrocephalus, Hypodontia, Intellectual disability, Intestinal malrotation, Joint hyperflexibility, Joint hypermobility, Long eyelashes, Long palpebral fissure, Macrotia, Malabsorption, Microcephaly, Microdontia, Micropenis, Muscular hypotonia, Posteriorly rotated ears, Postnatal growth retardation, Preauricular pit, Premature thelarche, Prominent eyelashes, Prominent fingertip pads, Protruding ear, Ptosis, Recurrent aspiration pneumonia, Recurrent infections, Recurrent otitis media, Scoliosis, Seizures, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Sparse and thin eyebrow, Sparse lateral eyebrow, Strabismus, Ureteropelvic junction obstruction, Ventricular septal defect, Ventriculomegaly, Wide nasal bridge, Widely spaced teeth
U4	SMEK2	1.028770919	0.001250415			
U4	PCDHB2	0.368531449	0.001363244	Adhesion molecule	BrainSpLMD|56133	OMIM|606328
U4	CALM3	0.700138529	0.001378889	Calcium binding protein	BrainSpLMD|808	OMIM|114183;HPO|808|Ventricular tachycardia, Vertigo
U4	CLSTN1	0.426948587	0.001556482	Calcium binding protein	BrainSpLMD|22883;BrainSpMouseDev|41788	OMIM|611321
U4	SF3B6	0.271433686	0.001686536		BrainSpLMD|51639	OMIM|607835
U4	RAB11B	0.450790174	0.001928318	GTPase activating protein	BrainSpLMD|9230	OMIM|604198
U4	DNAJB5	0.295754618	0.001974506	Heat shock protein	BrainSpLMD|25822;Eurexp|euxassay_014885|accessory XI, alar plate, basal plate, brachial plexus, brain, central nervous system, cerebellum, cerebral cortex, cervico-thoracic, cranial, diencephalon, dorsal root ganglion, facial VII, forebrain, ganglion, glossopharyngeal IX, heart, hindbrain, hypogastric plexus, hypoglossal XII, hypothalamus, inferior, intrinsic, lateral wall, lumbo-sacral plexus, lung, marginal layer, maxillary division, metanephros, midbrain, nerve, nerve plexus, nerve trunk, neural retina, olfactory, parasympathetic, pectoral girdle and thoracic body wall, pelvic girdle, rest of alar plate, retina, skeletal muscle, spinal cord, telencephalon, thalamus, tongue, trigeminal V, vagal X nerve trunk, vagus X, vestibulocochlear VIII, vibrissa	OMIM|611328
U4	BABAM1	2.585773425	0.001997373	Unclassified	BrainSpLMD|29086	OMIM|612766
U4	THRAP3	0.65024147	0.00216161	Transcription regulatory protein	BrainSpLMD|9967	OMIM|603809;COSMIC||aneurysmal bone cyst
U4	MXD1	0.571843989	0.00216917	Transcription regulatory protein	BrainSpLMD|4084;BrainSpMouseDev|16889	OMIM|600021
U4	LRRC41	0.929108523	0.002239655	Adapter molecule	BrainSpLMD|10489	
U4	ARHGAP35	0.286818292	0.002245797	Nuclear receptor	BrainSpLMD|2909	OMIM|605277
U4	UBB	0.443549437	0.002415746	Ubiquitin proteasome system protein	BrainSpLMD|7314	OMIM|191339;HPO|7314|Anterior open-bite malocclusion, Autosomal dominant inheritance, Cleft palate, Gingival overgrowth, Intellectual disability, profound, Micrognathia, Overbite, Seizures
U4	RP11.396K3.1	0.569332218	0.002621835			
U4	SRP14	0.920052545	0.002723	RNA binding protein	BrainSpLMD|6727;Eurexp|euxassay_001753|dorsal root ganglion, glossopharyngeal IX, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|600708
U4	RAB8A	0.333961246	0.002834371	GTPase	BrainSpLMD|4218	OMIM|165040
U4	GUK1	0.358238001	0.002839558	Enzyme: Phosphotransferase	BrainSpLMD|2987	OMIM|139270
U4	RPLP2	0.454763221	0.002853179	Ribosomal subunit		OMIM|180530
U4	C14orf2	0.429195294	0.002914225			
U4	ARL16	0.689397052	0.003025732	GTPase		
U4	GATC	0.261047227	0.003241835	Unclassified	BrainSpLMD|283459	OMIM|617210
U4	ANKRD52	0.424662358	0.003473364	Unclassified	BrainSpLMD|283373	
U4	UBE2I	4.272509146	0.003610812	Ubiquitin proteasome system protein	BrainSpLMD|7329	OMIM|601661
U4	SLTM	1.387419727	0.003747548	DNA binding protein	BrainSpLMD|79811	
U4	RPS21	0.334994012	0.003858032	Ribosomal subunit	BrainSpLMD|6227	OMIM|180477
U4	EHMT1	0.541819634	0.003889484	Enzyme: Methyltransferase	BrainSpLMD|79813	SFARI||Autism, 3 - Suggestive evidence;OMIM|607001;HPO|79813|Abnormality of the cardiac septa, Abnormality of the pinna, Absence seizures, Aggressive behavior, Anteverted nares, Aphasia, Autism, Autosomal dominant inheritance, Brachycephaly, Brachydactyly, Coarse facial features, Cryptorchidism, Delayed speech and language development, Downturned corners of mouth, Dysphasia, Echolalia, Epileptic spasms, Everted lower lip vermilion, Flat face, Flat occiput, Generalized hypotonia, Global developmental delay, Highly arched eyebrow, Hypertelorism, Hypospadias, Intellectual disability, Intellectual disability, severe, Macroglossia, Malar flattening, Mandibular prognathia, Microcephaly, Micropenis, Midface retrusion, Muscular hypotonia, Mutism, Obesity, Obsessive-compulsive behavior, Protruding tongue, Recurrent respiratory infections, Short nose, Single transverse palmar crease, Sleep disturbance, Specific learning disability, Sporadic, Status epilepticus, Stereotypy, Synophrys, U-Shaped upper lip vermilion, Upslanted palpebral fissure
U4	PHF1	0.351447919	0.003975402	Transcription factor	BrainSpLMD|5252	OMIM|602881
U4	TMEM126B	1.581232538	0.004331391	Unclassified	BrainSpLMD|55863	OMIM|615533;HPO|55863|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
U4	ZNF362	0.653604523	0.00443695	Unclassified	BrainSpLMD|149076	
U4	TCEB2	0.649645085	0.004480607			
U4	FABP5P7	0.267014799	0.004648927			
U4	RPS16	0.450681938	0.004983529	Ribosomal subunit	BrainSpLMD|6217	OMIM|603675
U4	LONP1	0.566865749	0.005277258	Serine protease	BrainSpLMD|9361;Eurexp|euxassay_009528|left lung, liver, medulla, metanephros, midgut, pancreas, right lung, stomach, submandibular gland primordium, testis, thymus primordium, thyroid	OMIM|605490;HPO|9361|Abnormality of dental enamel, Abnormality of dental morphology, Abnormality of epiphysis morphology, Anteverted nares, Atrial septal defect, Atrioventricular canal defect, Autosomal recessive inheritance, Brachydactyly, Broad skull, Cataract, Congenital cataract, Congenital hip dislocation, Coronal cleft vertebrae, Crumpled ear, Delayed eruption of teeth, Delayed ossification of carpal bones, Delayed skeletal maturation, Depressed nasal bridge, Epicanthus, Flat face, Generalized hypotonia, Genu valgum, Global developmental delay, Hypoplasia of dental enamel, Hypoplasia of the corpus callosum, Hypoplasia of the odontoid process, Joint hyperflexibility, Metaphyseal dysplasia, Midline defect of the nose, Muscular hypotonia, Overfolded helix, Pes valgus, Polyhydramnios, Ptosis, Scoliosis, Sensorineural hearing impairment, Short humerus, Short metacarpal, Short nose, Short phalanx of finger, Short stature, Squared iliac bones, Ventricular septal defect, Vocal cord paresis
U4	WDR83OS	0.400762053	0.005309305	Integral membrane protein	BrainSpLMD|51398	
U4	SAT2	0.519094501	0.005424321	Enzyme: Acyltransferase	BrainSpLMD|112483	OMIM|611463
U4	ARL2	0.962032407	0.005449969	GTPase		OMIM|601175
U4	TMEM258	0.577139474	0.005557598	Integral membrane protein	BrainSpLMD|746	OMIM|617615
U4	NPIPA1	0.484263627	0.005802886	Unclassified		OMIM|606406
U4	CIZ1	0.301402591	0.005947369	DNA binding protein	BrainSpLMD|25792	OMIM|611420
U4	MRPL20	0.390148529	0.006101821	Ribosomal subunit	Eurexp|euxassay_006751|axial muscle, bladder, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, incisor, liver, lung, mandible, maxilla, metanephros, molar, orbito-sphenoid, pancreas, submandibular gland primordium, thoracic, trigeminal V, vagus X, vibrissa	OMIM|611833
U4	PLCXD1	0.395660452	0.006192452	Enzyme: Phospholipase		OMIM|300974
U4	RNF169	0.300868385	0.006649808	Transcription regulatory protein		
U4	TMEM180	0.295790239	0.006674667			
U4	RALY	0.43784348	0.006774944	RNA binding protein	BrainSpLMD|22913	OMIM|614663
U4	ZC3H18	0.905601306	0.007102495	Unclassified	BrainSpLMD|124245;Eurexp|euxassay_012107|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, cricoid, femur, fibula, humerus, hyoid bone, laryngeal, naris, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, rib, scapula, sternum, thyroid, tibia, turbinate bones, vault of skull, vibrissa	
U4	IGSF3	0.653240347	0.00797332	Integral membrane protein	BrainSpLMD|3321	OMIM|603491;HPO|3321|Autosomal dominant inheritance, Autosomal recessive inheritance, Dacryocystocele, Increased lacrimation, Lacrimal duct atresia
U4	TMEM19	3.380619538	0.008861387	Integral membrane protein	BrainSpLMD|55266	
U4	VEZF1	0.299515574	0.008884455	Transcription factor	BrainSpLMD|7716	OMIM|606747
U4	CKAP4	0.477751823	0.009185632	Cytoskeletal associated protein	BrainSpLMD|10970	
U4	TUBB2A	0.280647047	0.00979821		BrainSpLMD|7280;Eurexp|euxassay_006726|embryo	OMIM|615101;HPO|7280|Autosomal dominant inheritance, Cortical dysplasia, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Seizures, Variable expressivity
oRG	GPX3	3.286405281	0	Enzyme: Peroxidase	BrainSpLMD|2878;Eurexp|euxassay_003296|foregut-midgut junction, hindgut, incisor, left atrium, midgut, right atrium, stomach;BrainSpMouseDev|14554	OMIM|138321
oRG	CD38	3.237225773	0	Enzyme: Hydrolase	BrainSpLMD|952	SFARI||Autism, No category;OMIM|107270
oRG	SLCO1C1	3.199024738	0	Membrane transport protein	BrainSpLMD|53919;Eurexp|euxassay_007061|4th ventricle, choroid plexus, forebrain, hindbrain, meninges, midbrain, spinal cord, ventricular layer	OMIM|613389
oRG	SLC15A2	3.156223198	0	Membrane transport protein	BrainSpLMD|6565	OMIM|602339
oRG	TNC	3.04969775	0	Adhesion molecule	BrainSpLMD|3371;Eurexp|euxassay_009501|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, cochlea, cochlear duct, diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, fibula, handplate, humerus, lip, lung, mandible, mantle layer, maxilla, maxillary division, mesenchyme, molar, nasal septum, oesophagus, orbito-sphenoid, palatal shelf, pelvic girdle, penis, pharyngo-tympanic tube, rib, scapula, skeletal muscle, sternum, temporal bone, thymus primordium, tibia, tongue, trigeminal V, vault of skull, ventral grey horn, ventricle, ventricular layer, vibrissa;BrainSpMouseDev|21680	OMIM|187380;COSMIC||SCC, melanoma;HPO|3371|Autosomal dominant inheritance, Hearing impairment
oRG	RP11.268P4.5	2.816192142	0			
oRG	HTR2A	2.806664503	0	G protein coupled receptor	BrainSpLMD|3356;BrainSpMouseDev|15333	SFARI||Autism, 5 - Hypothesized but untested;OMIM|182135
oRG	HOPX	2.805119114	0	Transcription regulatory protein	BrainSpLMD|84525;Eurexp|euxassay_010529|anterior, atrium, external, lateral wall, mantle layer, midgut, ventricle, ventricular layer, vibrissa;BrainSpMouseDev|50159	OMIM|607275
oRG	CLU	2.793025474	0	Complement protein	BrainSpLMD|1191;BrainSpMouseDev|12543	OMIM|185430
oRG	AQP4	2.781418479	0	Water channel	BrainSpLMD|361;Eurexp|euxassay_004747|hindbrain, lung, metanephros, midbrain, olfactory, pancreas, spinal cord, stomach, trigeminal V, ventral grey horn, ventricular layer;BrainSpMouseDev|11616	OMIM|600308
oRG	RHOJ	2.708082095	0	GTPase	BrainSpLMD|57381;Eurexp|euxassay_002084|alimentary system, cavities and their linings, gland, integumental system, limb, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, tail, vertebral axis muscle system	OMIM|607653
oRG	LPAR1	2.707614969	0	G protein coupled receptor	BrainSpLMD|1902	OMIM|602282
oRG	DIO2	2.694589657	0	Enzyme: Oxidoreductase	BrainSpLMD|1734	OMIM|601413
oRG	FAM107A	2.68469071	0	Unclassified	BrainSpLMD|11170;Eurexp|euxassay_005179|inner ear, olfactory	OMIM|608295
oRG	RP11.561I11.4	2.650002533	0			
oRG	CHST3	2.649719568	0	Enzyme: Sulphotransferase	BrainSpLMD|9469	OMIM|603799;HPO|9469|Abnormal form of the vertebral bodies, Abnormality of cardiovascular system morphology, Accelerated skeletal maturation, Amblyopia, Aortic regurgitation, Aortic root dilatation, Aortic valve stenosis, Arthralgia, Arthropathy, Autosomal dominant inheritance, Autosomal recessive inheritance, Barrel-shaped chest, Bicuspid aortic valve, Bilateral elbow dislocations, Bilateral single transverse palmar creases, Brachycephaly, Brachydactyly, Broad distal phalanges of all fingers, Broad forehead, Camptodactyly of finger, Cardiomegaly, Cleft palate, Congenital glaucoma, Coronal cleft vertebrae, Cubitus valgus, Cutis laxa, Decreased hip abduction, Delayed eruption of teeth, Delayed gross motor development, Delayed skeletal maturation, Depressed nasal bridge, Deviation of the 5th finger, Disproportionate short-trunk short stature, Downslanted palpebral fissures, Elbow dislocation, Elbow flexion contracture, Enlarged joints, Enlarged metaphyses, Esotropia, Fixed elbow flexion, Flattened epiphysis, Flexion contracture, Frontal bossing, Generalized bone demineralization, Genu valgum, Hearing impairment, High palate, Highly arched eyebrow, Hip dislocation, Hydrocephalus, Hypermetropia, Hypertelorism, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ulna, Intervertebral space narrowing, Irregular epiphyses, Irregular vertebral endplates, Joint laxity, Knee dislocation, Kyphoscoliosis, Large eyes, Left ventricular hypertrophy, Limited hip extension, Long philtrum, Low posterior hairline, Low-set ears, Lumbar hyperlordosis, Metatarsus adductus, Microdontia, Microtia, Midface retrusion, Mitral regurgitation, Mitral stenosis, Mitral valve prolapse, Motor delay, Multiple carpal ossification centers, Multiple joint dislocation, Narrow chest, Narrow mouth, Narrow vertebral interpedicular distance, Osteopenia, Patent foramen ovale, Pes planus, Prominent forehead, Pulmonary arterial hypertension, Pulmonic stenosis, Radioulnar synostosis, Rhizomelia, Scoliosis, Shield chest, Short distal phalanx of finger, Short femoral neck, Short metacarpal, Short neck, Short phalanx of finger, Shoulder dislocation, Small epiphyses, Small face, Sparse and thin eyebrow, Sparse eyebrow, Spatulate thumbs, Spondyloepiphyseal dysplasia, Talipes equinovalgus, Talipes equinovarus, Thick eyebrow, Tibial bowing, Tricuspid regurgitation, Tricuspid stenosis, Ulnar bowing, Ventricular hypertrophy, Ventricular septal defect, Waddling gait, Wide intermamillary distance, Widely spaced teeth
oRG	ACSBG1	2.647910994	0	Enzyme: Synthase	BrainSpLMD|23205;Eurexp|euxassay_017864|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, pelvic girdle, rib, scapula, temporal bone, testis, tibia, turbinate, vault of skull	OMIM|614362
oRG	ITGB5	2.623298304	0	Adhesion molecule	BrainSpLMD|3693	OMIM|147561
oRG	ALDOC	2.62141895	0	Enzyme: Lyase	BrainSpLMD|230;Eurexp|euxassay_011944|olfactory, ventricular layer	OMIM|103870
oRG	FAM189A2	2.572761885	0	Integral membrane protein	BrainSpLMD|9413;BrainSpMouseDev|120110	OMIM|607710
oRG	RANBP3L	2.521211783	0	Unclassified	BrainSpLMD|202151	OMIM|616391
oRG	GFAP	2.511180604	0	Structural protein	BrainSpLMD|2670;BrainSpMouseDev|14356	OMIM|137780;HPO|2670|Ataxia, Autosomal dominant inheritance, Bulbar signs, Developmental regression, Diffuse demyelination of the cerebral white matter, Hydrocephalus, Increased CSF protein, Infantile onset, Progressive macrocephaly, Seizures, Spasticity
oRG	EEPD1	2.462792433	0	DNA binding protein	BrainSpLMD|80820;Eurexp|euxassay_002552|dorsal root ganglion, facial VII, orbito-sphenoid, trigeminal V	OMIM|617192
oRG	F3	2.458934877	0	Coagulation factor	BrainSpLMD|2152;Eurexp|euxassay_009157|axial muscle, calyces, epithelium, larynx, left lung, midgut, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, pyloric region, rectum, right lung, ventricular layer, vibrissa	OMIM|134390
oRG	HGF	2.447682405	0	Growth factor	BrainSpLMD|3082	OMIM|142409;HPO|3082|Autosomal recessive inheritance, Prelingual sensorineural hearing impairment
oRG	PEA15	2.436968586	0	Transport/cargo protein	BrainSpLMD|8682;Eurexp|euxassay_011580|neural retina, ventral grey horn, ventricular layer	OMIM|603434
oRG	RP11.431M7.3	2.423202069	0			
oRG	C8orf4	2.42211944	0			
oRG	LRRC3B	2.416787699	0	Unclassified	BrainSpLMD|116135	
oRG	EDNRB	2.396624821	0	G protein coupled receptor	BrainSpLMD|1910;Eurexp|euxassay_002855|4th ventricle, bladder, choroid plexus, cochlear component, dorsal root ganglion, ductus deferens, facial VII, foregut-midgut junction, glossopharyngeal IX, heart, hindgut, inferior, intrinsic, lateral recess, loop, mantle layer, meninges, mesenchyme, midgut, oesophagus, rectum, stomach, superior, tail, tongue, trigeminal V, turbinate bones, urethra, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vestibular component, vestibulocochlear VIII;BrainSpMouseDev|13396	OMIM|131244;HPO|1910|Abdominal pain, Abnormal auditory evoked potentials, Abnormal macular morphology, Abnormality of vision, Aganglionic megacolon, Albinism, Ataxia, Autonomic dysregulation, Autosomal dominant inheritance, Autosomal recessive inheritance, Blue irides, Constipation, Global developmental delay, Hearing impairment, Heterochromia iridis, Heterogeneous, Hypopigmentation of the fundus, Hypopigmented skin patches, Intestinal obstruction, Large for gestational age, Leukodystrophy, Muscular hypotonia, Nausea and vomiting, Nystagmus, Olfactory lobe agenesis, Polyneuropathy, Premature graying of hair, Prominent nasal bridge, Sensorineural hearing impairment, Spastic paraparesis, Synophrys, Underdeveloped nasal alae, Weight loss, White eyebrow, White eyelashes, White forelock, Wide nasal bridge
oRG	MOXD1	2.391457938	0	Enzyme: Oxygenase	BrainSpLMD|26002	OMIM|609000
oRG	GRAMD1C	2.382103856	0	Unclassified;Integral membrane protein	BrainSpLMD|54762;Eurexp|euxassay_005110|adenohypophysis, liver, olfactory, oral region, ventricular layer	
oRG	VEPH1	2.373323769	0	Unclassified	BrainSpLMD|79674	OMIM|609594
oRG	HAPLN1	2.368807077	0	Extracellular matrix protein	BrainSpLMD|1404	OMIM|115435
oRG	TKTL1	2.364862614	0	Enzyme: Transketolase	BrainSpLMD|8277	OMIM|300044
oRG	PTN	2.338337922	0	Cytokine	BrainSpLMD|5764	OMIM|162095
oRG	ATP13A4	2.325095742	0	ATPase	BrainSpLMD|84239	OMIM|609556
oRG	SLC7A11	2.315738988	0	Membrane transport protein	BrainSpLMD|23657;Eurexp|euxassay_012149|choroid invagination, lens, meninges, olfactory, ventricular layer	OMIM|607933
oRG	GABRB1	2.308397488	0	Extracellular ligand gated channel	BrainSpLMD|2560;BrainSpMouseDev|14176	SFARI||Autism, 5 - Hypothesized but untested;OMIM|137190;HPO|2560|Ataxia, Autosomal dominant inheritance, Cortical visual impairment, Developmental regression, Epileptic encephalopathy, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile onset, Seizures
oRG	BCAN	2.307476471	0	Adhesion molecule	BrainSpLMD|63827;Eurexp|euxassay_018187|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|11818	OMIM|600347
oRG	FBN2	2.305388296	0	Structural protein	BrainSpLMD|2201;Eurexp|euxassay_008110|lung, mesenchyme	OMIM|612570;HPO|2201|Abnormally folded helix, Adducted thumb, Aortic root dilatation, Arachnodactyly, Arthrogryposis multiplex congenita, Atrial septal defect, Autosomal dominant inheritance, Bicuspid aortic valve, Brachycephaly, Calf muscle hypoplasia, Camptodactyly of finger, Congenital kyphoscoliosis, Crumpled ear, Disproportionate tall stature, Distal arthrogryposis, Ectopia lentis, Frontal bossing, High palate, Joint stiffness, Macular degeneration, Metatarsus adductus, Mitral regurgitation, Mitral valve prolapse, Motor delay, Myopia, Osteopenia, Patellar dislocation, Patellar subluxation, Patent ductus arteriosus, Pectus carinatum, Reduced visual acuity, Scaphocephaly, Short neck, Slender build, Ulnar deviation of finger, Ventricular septal defect, Visual impairment
oRG	IL33	2.300808161	0	Unclassified	Eurexp|euxassay_011591|capsule, cortex, endolymphatic duct, lip, mesentery, midgut, olfactory, skeletal muscle, utricle	OMIM|608678
oRG	TMEM132B	2.299376554	0	Integral membrane protein		
oRG	ARAP2	2.285784294	0	GTPase activating protein	BrainSpLMD|116984	OMIM|606645
oRG	ID4	2.277731601	0	Transcription regulatory protein	BrainSpLMD|3400;BrainSpMouseDev|15677	OMIM|600581
oRG	ATP1A2	2.250142278	0	ATPase	BrainSpLMD|477;Eurexp|euxassay_001505|brain, cervical, cervico-thoracic, cochlea, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mesenchyme, naris, neural retina, spinal cord, stroma, thoracic, tongue, trigeminal V, turbinate bones, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|62830	OMIM|182340;HPO|477|Abnormality of movement, Aphasia, Apraxia, Ataxia, Autosomal dominant inheritance, Blurred vision, Choreoathetosis, Coma, Confusion, Diplopia, Drowsiness, Dysarthria, Dysphasia, Dystonia, Episodic ataxia, Episodic hemiplegia, Episodic quadriplegia, Fever, Generalized tonic-clonic seizures, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Heterogeneous, Incomplete penetrance, Intellectual disability, Mental deterioration, Migraine with aura, Nystagmus, Seizures, Transient unilateral blurring of vision, Vertigo
oRG	MT3	2.249836898	0	Unclassified	BrainSpLMD|4504;Eurexp|euxassay_012667|dorsal root ganglion, glossopharyngeal IX, trigeminal V, ventral grey horn, ventricular layer	OMIM|139255
oRG	BMP7	2.230079557	0	Ligand	BrainSpLMD|655;BrainSpMouseDev|11948	OMIM|112267
oRG	LRRC10B	2.225223508	0	Unclassified		
oRG	GALNT16	2.207267527	0	Enzyme: Galactosyltransferase	Eurexp|euxassay_011719|floor plate, floorplate, mantle layer, mesenchyme, ventral grey horn, ventricular layer	OMIM|615132
oRG	RP11.731J8.2	2.206601657	0			
oRG	SLC1A3	2.202227239	0	Transport/cargo protein	BrainSpLMD|6507;Eurexp|euxassay_001899|mantle layer, thymus primordium, tongue, ventral grey horn, ventricular layer;BrainSpMouseDev|20274	OMIM|600111;HPO|6507|Autosomal dominant inheritance, Cerebellar hypoplasia, Diplopia, Dysarthria, Episodic ataxia, Generalized hypotonia, Hemiparesis, Hemiplegia, Migraine, Motor delay, Nausea, Phonophobia, Photophobia, Seizures, Slurred speech, Truncal ataxia, Vertigo, Vomiting
oRG	ATP1B2	2.189794164	0	ATPase	BrainSpLMD|482;Eurexp|euxassay_011653|lobe, pituitary, ventral grey horn, ventricular layer;BrainSpMouseDev|11718	OMIM|182331
oRG	HNMT	2.183787973	0	Enzyme: Methyltransferase	BrainSpLMD|3176	OMIM|605238;HPO|3176|Autosomal recessive inheritance, Delayed speech and language development, Global developmental delay, Infantile onset, Intellectual disability, Intellectual disability, severe, Microcephaly
oRG	FGGY	2.178539267	0	Unclassified	BrainSpLMD|55277;Eurexp|euxassay_003524|calyces, left, olfactory, right	OMIM|611370
oRG	LINC00943	2.177037651	0			
oRG	NUDT7	2.174774059	0	Unclassified		OMIM|609231
oRG	PMP22	2.168857343	0	Integral membrane protein	BrainSpLMD|5376	OMIM|601097;HPO|5376|Abnormality of the immune system, Acute demyelinating polyneuropathy, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Childhood onset, Cold-induced muscle cramps, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Gait ataxia, Gait disturbance, Generalized hypotonia, Hammertoe, Hearing impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Increased CSF protein, Infantile onset, Insidious onset, Juvenile onset, Kyphoscoliosis, Motor delay, Muscle weakness, Myelin outfoldings, Onion bulb formation, Paresthesia, Pes cavus, Scoliosis, Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Sensory ataxia, Slow progression, Split hand, Steppage gait, Talipes calcaneovalgus, Ulnar claw, Upper limb postural tremor, Variable expressivity, Vocal cord paralysis
oRG	PAQR8	2.157581587	0	Integral membrane protein	BrainSpLMD|85315	OMIM|607780
oRG	S1PR1	2.142937189	0	G protein coupled receptor	BrainSpLMD|1901;BrainSpMouseDev|13387	OMIM|601974
oRG	GATM	2.139471486	0	Enzyme: Amidinotransferase	BrainSpLMD|2628;Eurexp|euxassay_005674|diaphragm, footplate, frenulum, handplate, lower leg, paraxial mesenchyme, shoulder, skeletal muscle, upper arm, upper leg, vertebral axis muscle system	SFARI||Autism, No category;OMIM|602360;HPO|2628|Abnormality of creatine metabolism, Autism, Autosomal recessive inheritance, Delayed speech and language development, Failure to thrive, Global developmental delay, Infantile onset, Intellectual disability, Organic aciduria
oRG	NOG	2.137856362	0	Secreted polypeptide	BrainSpLMD|9241;Eurexp|euxassay_009618|axial skeleton, mandible, mantle layer, nasal septum, otic capsule, phalanx, rib, sternum, thyroid, turbinate bones, ventral grey horn;BrainSpMouseDev|17888	OMIM|602991;HPO|9241|2-3 toe syndactyly, Abnormal vertebral morphology, Abnormality of the ankles, Absent distal interphalangeal creases, Absent distal phalanges, Absent fingernail, Absent phalangeal crease, Anonychia, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the nails, Aplastic/hypoplastic toenail, Autosomal dominant inheritance, Brachydactyly, Broad hallux, Broad thumb, Camptodactyly of finger, Carpal synostosis, Clinodactyly, Conductive hearing impairment, Congenital stapes ankylosis, Cubitus valgus, Cutaneous finger syndactyly, Cutaneous syndactyly of toes, Dislocated radial head, Elbow ankylosis, Elbow dislocation, Enlargement of the costochondral junction, Finger syndactyly, Fusion of midphalangeal joints, Hypermetropia, Hypoplastic nasal septum, Hypoplastic spinal processes, Long nose, Low hanging columella, Lower limb undergrowth, Metacarpophalangeal synostosis, Narrow face, Pectus excavatum, Progressive conductive hearing impairment, Progressive fusion 2nd-5th pip joints, Proximal placement of thumb, Proximal symphalangism, Proximal symphalangism of hands, Proximal/middle symphalangism of 5th finger, Radial deviation of finger, Sensorineural hearing impairment, Short 1st metacarpal, Short 5th metacarpal, Short distal phalanx of finger, Short distal phalanx of toe, Short finger, Short foot, Short hallux, Short humerus, Short lower limbs, Short philtrum, Short stature, Short sternum, Single transverse palmar crease, Spinal canal stenosis, Stapes ankylosis, Strabismus, Symphalangism affecting the phalanges of the hand, Synostosis of carpal bones, Tarsal synostosis, Thick upper lip vermilion, Thin upper lip vermilion, Toe syndactyly, Type B brachydactyly, Underdeveloped nasal alae, Waddling gait
oRG	Z83001.1	2.122005184	0			
oRG	IQGAP2	2.115818221	0	GTPase activating protein	BrainSpLMD|10788;Eurexp|euxassay_013405|adrenal gland, incisor, intervertebral disc, lobe, mandible, mesenchyme, metanephros, midgut, oesophagus, skeletal muscle, stomach, thymus primordium, ventricular layer, vertebral axis muscle system, vertebral cartilage condensation	OMIM|605401
oRG	NOTCH2	2.113283059	0	Cell surface receptor	BrainSpLMD|4853;Eurexp|euxassay_015406|alimentary system, cardiovascular system, cavities and their linings, choroid plexus, gland, integumental system, limb, marginal layer, meninges, mesenchyme, olfactory, renal/urinary system, reproductive system, respiratory system, skeleton, tail, ventricular layer, vertebral axis muscle system, vomeronasal organ;BrainSpMouseDev|17896	OMIM|600275;COSMIC||marginal zone lymphoma, DLBCL, bladder, Hajdu-Cheney syndrome, serpentine fibula-polycystic kidney syndrome;HPO|4853|Abnormality of the cardiac septa, Abnormality of the fingernails, Absent frontal sinuses, Anteverted nares, Arnold-Chiari malformation, Arthralgia, Atrial septal defect, Autosomal dominant inheritance, Basilar impression, Biconcave vertebral bodies, Bone pain, Brachydactyly, Broad forehead, Cervical instability, Cholestasis, Cholestatic liver disease, Coarse facial features, Conductive hearing impairment, Crowded carpal bones, Cryptorchidism, Decreased skull ossification, Dental malocclusion, Dislocated radial head, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Elongated sella turcica, Epicanthus, Failure to thrive, Foot acroosteolysis, Full cheeks, Generalized hirsutism, Genu valgum, Hearing impairment, Hematuria, High palate, Hirsutism, Hydrocephalus, Hypertelorism, Hypertension, Hypoplastic 5th lumbar vertebrae, Hypospadias, Inguinal hernia, Joint hyperflexibility, Joint laxity, Kyphoscoliosis, Large earlobe, Long eyelashes, Long nose, Long philtrum, Low-set ears, Macrocephaly, Micrognathia, Narrow mouth, Open bite, Osteolysis, Osteolytic defects of the phalanges of the hand, Osteopenia, Osteoporosis, Partial absence of toe, Patent ductus arteriosus, Pathologic fracture, Periodontitis, Peripheral pulmonary artery stenosis, Phenotypic variability, Platybasia, Pointed chin, Posterior embryotoxon, Premature loss of teeth, Prominent occiput, Proteinuria, Pulmonic stenosis, Recurrent fractures, Renal cyst, Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Scoliosis, Short distal phalanx of finger, Short nail, Short neck, Short stature, Short toe, Skeletal dysplasia, Synophrys, Tall lumbar vertebral bodies, Telecanthus, Tetralogy of Fallot, Thick eyebrow, Thin vermilion border, Triangular face, Umbilical hernia, Vertebral compression fractures, Wide nose, Wormian bones
oRG	CCDC175	2.113103969	0			
oRG	MLC1	2.111943919	0	Membrane transport protein	BrainSpLMD|23209;Eurexp|euxassay_010374|ventricular layer	OMIM|605908;HPO|23209|Ataxia, Autosomal recessive inheritance, Diffuse spongiform leukoencephalopathy, Diffuse swelling of cerebral white matter, Infantile onset, Intellectual disability, mild, Macrocephaly, Megalencephaly, Motor delay, Seizures, Spasticity
oRG	PREX2	2.111349952	0	Guanine nucleotide exchange factor	BrainSpLMD|80243	OMIM|612139;COSMIC||melanoma, pancreatic ductal adenocarcinoma
oRG	PSAT1	2.106179257	0	Enzyme: Aminotransferase	BrainSpLMD|29968;Eurexp|euxassay_001596|cranium, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|610936;HPO|29968|Abnormality of the philtrum, Abnormality of the pinna, Absent septum pellucidum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Broad foot, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cleft palate, Congenital onset, Dandy-Walker malformation, Decreased fetal movement, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Feeding difficulties in infancy, Global developmental delay, High palate, Hypertelorism, Hypertonia, Hypoglycinemia, Hypogonadism, Hyposerinemia, Ichthyosis, Infantile onset, Intrauterine growth retardation, Lack of skin elasticity, Large hands, Lissencephaly, Low-set ears, Macrogyria, Macrotia, Microcephaly, Micrognathia, Muscle cramps, Muscular dystrophy, Opisthotonus, Pachygyria, Polyhydramnios, Polymicrogyria, Postnatal microcephaly, Proptosis, Rocker bottom foot, Scoliosis, Seizures, Short neck, Skeletal muscle atrophy, Sloping forehead, Thick vermilion border, Trismus
oRG	PTPRZ1	2.105462523	0	Receptor tyrosine phosphatase	BrainSpLMD|5803;BrainSpMouseDev|19046	OMIM|176891
oRG	C2orf72	2.079114794	0	Unclassified	Eurexp|euxassay_008051|left, right, ventricular layer	
oRG	RP11.849I19.1	2.066101498	0			
oRG	ARHGEF6	2.055880238	0	Guanine nucleotide exchange factor	BrainSpLMD|9459	OMIM|300267;HPO|9459|Intellectual disability, X-linked recessive inheritance
oRG	ADHFE1	2.032254556	0	Enzyme: Dehydrogenase	BrainSpLMD|137872;Eurexp|euxassay_018617|basisphenoid bone, calyces, exoccipital bone, meninges, nucleus pulposus, orbito-sphenoid, otic capsule, pectoral girdle and thoracic body wall, rib, skeletal muscle, supraoccipital cartilage condensation, turbinate, turbinate bones, ventral grey horn, ventricular layer	OMIM|611083
oRG	HEPACAM	2.006936848	0	Adhesion molecule	BrainSpLMD|220296	SFARI||Autism, No category;OMIM|611642;HPO|220296|Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Clumsiness, Diffuse spongiform leukoencephalopathy, Diffuse swelling of cerebral white matter, Dysarthria, Generalized hypotonia, Infantile onset, Intellectual disability, Intellectual disability, mild, Macrocephaly, Megalencephaly, Motor delay, Progressive neurologic deterioration, Seizures, Slow progression, Spasticity, Ventriculomegaly
oRG	CD9	1.974296606	0	Unclassified	BrainSpLMD|928;Eurexp|euxassay_001933|axial skeleton, bladder, calyces, cervical, cervico-thoracic, foregut-midgut junction, hindgut, lung, midgut, nucleus pulposus, oesophagus, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, rectum, stomach, submandibular gland primordium, thoracic, thymus primordium, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|12312	OMIM|143030
oRG	SOAT1	1.959742509	0	Enzyme: Acyltransferase	BrainSpLMD|6646;Eurexp|euxassay_004596|adrenal gland, calyces, loop, midgut, stomach, turbinate bones	OMIM|102642
oRG	GPR126	1.933794912	0			
oRG	PPAP2B	1.923857877	0			
oRG	PBXIP1	1.922804661	0	Transcription regulatory protein	BrainSpLMD|57326;Eurexp|euxassay_012529|choroid invagination, choroid plexus, diaphragm, floor plate, floorplate, midgut, skeletal muscle, stomach, ventricle, ventricular layer;BrainSpMouseDev|86886	
oRG	SPRY2	1.905117136	0	Unclassified	BrainSpLMD|10253	OMIM|602466
oRG	PDPN	1.90164883	0	Water channel	BrainSpLMD|10630;Eurexp|euxassay_002001|axial skeleton, submandibular gland primordium, ventricular layer;BrainSpMouseDev|14502	OMIM|608863
oRG	LIFR	1.887321387	0	Cytokine receptor	BrainSpLMD|3977;Eurexp|euxassay_010649|axial muscle, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, orbito-sphenoid, thymus primordium, thyroid, tongue, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16651	OMIM|151443;COSMIC||salivary adenoma;HPO|3977|Abnormal metaphyseal trabeculation, Abnormality of dental enamel, Abnormality of vision, Absent patellar reflexes, Adducted thumb, Apnea, Asthma, Autosomal recessive inheritance, Blotching pigmentation of the skin, Broad ischia, Camptodactyly of finger, Contracture of the proximal interphalangeal joint of the 5th finger, Dysautonomia, Dysphagia, Elbow flexion contracture, Enlarged joints, Episodic fever, Feeding difficulties, Feeding difficulties in infancy, Femoral bowing, Flared metaphysis, Flexion contracture of toe, Frontal bossing, Generalized hypotonia, Genu valgum, Hoarse voice, Hyperhidrosis, Hypohidrosis, Hypoplastic iliac body, Impaired pain sensation, Intrauterine growth retardation, Knee flexion contracture, Lacrimation abnormality, Low-set ears, Malar flattening, Metaphyseal rarefaction, Metaphyseal widening, Micrognathia, Micromelia, Midface retrusion, Myotonia, Nasal speech, Oligohydramnios, Opacification of the corneal stroma, Osteopenia, Osteoporosis, Paresthesia, Pathologic fracture, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Pursed lips, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Short neck, Short nose, Short palpebral fissure, Short phalanx of finger, Short stature, Short tibia, Single transverse palmar crease, Skeletal dysplasia, Smooth tongue, Square face, Talipes, Talipes equinovarus, Talipes valgus, Thickened cortex of long bones, Thin ribs, Thin skin, Tibial bowing, Trismus, Ulnar deviation of finger, Wide nasal base
oRG	FAM182B	1.879157312	0			
oRG	SLITRK2	1.875632806	0	Integral membrane protein	BrainSpLMD|84631;Eurexp|euxassay_012159|dorsal root ganglion, facial VII, glossopharyngeal IX, marginal layer, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|300561
oRG	MEGF10	1.865825849	0	Structural protein	BrainSpLMD|84466	SFARI||Autism, 4 - Minimal evidence;OMIM|612453;HPO|84466|Areflexia, Autosomal recessive inheritance, Camptodactyly of finger, Cleft palate, Congenital onset, Decreased fetal movement, Diaphragmatic paralysis, Difficulty running, Dysphagia, Facial palsy, Failure to thrive, High palate, Hyporeflexia, Motor delay, Nasal speech, Neonatal hypotonia, Pectus excavatum, Poor head control, Respiratory distress, Respiratory failure, Restrictive ventilatory defect, Scoliosis, Talipes equinovarus, Variable expressivity
oRG	RGS20	1.862237728	0	GTPase activating protein	BrainSpLMD|8601;Eurexp|euxassay_009661|ventricular layer	OMIM|607193
oRG	HSDL2	1.861876534	0	Unclassified	BrainSpLMD|84263	
oRG	FABP5	1.858292083	0	Transport/cargo protein	Eurexp|euxassay_002194|axial skeleton, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lobe, molar, naris, thoracic, thymus primordium, trigeminal V, vagus X, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|605168
oRG	LAMA1	1.854786963	0	Extracellular matrix protein	BrainSpLMD|284217;Eurexp|euxassay_011017|epithelium, glomeruli, lens, meninges, renal/urinary system, ventricular layer;BrainSpMouseDev|16544	SFARI||Autism, 4 - Minimal evidence;OMIM|150320;HPO|284217|Abnormality of the periventricular white matter, Amblyopia, Autosomal recessive inheritance, Cerebellar cyst, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Delayed speech and language development, Dilated fourth ventricle, Motor delay, Myopia, Nystagmus, Oculomotor apraxia, Retinal atrophy, Retinal dystrophy, Retinal thinning, Strabismus, Variable expressivity
oRG	FABP7	1.854701381	0	Transport/cargo protein	BrainSpLMD|2173;Eurexp|euxassay_000474|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, rest of cerebellum, trigeminal V, ventral grey horn, ventricular layer	SFARI||Autism, 6 - Evidence does not support role;OMIM|602965
oRG	VAT1L	1.851660863	0	Unclassified	BrainSpLMD|57687;Eurexp|euxassay_004685|adenohypophysis, body-wall mesenchyme, cervical, cervico-thoracic, choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, lateral recess, mantle layer, marginal layer, mesenchyme, thoracic, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|92920	
oRG	LPAR4	1.849782774	0	G protein coupled receptor	BrainSpLMD|2846;Eurexp|euxassay_008259|axial skeleton, basisphenoid bone, clavicle, diaphragm, femur, fibula, footplate, handplate, humerus, knee, metatarsus, midgut, naris, nasal septum, otic capsule, paraxial mesenchyme, phalanx, rest of mesenchyme, rib, skeletal muscle, sternum, stomach, thyroid, tibia, tongue, turbinate bones, ventricle, vertebral axis muscle system	OMIM|300086
oRG	S100A16	1.842248451	0	Calcium binding protein	BrainSpLMD|140576;Eurexp|euxassay_004932|bladder, epidermis, hindgut, lung, medulla, metanephros, midgut, naris, oesophagus, olfactory, rectum, stomach, submandibular gland primordium, thymus primordium, urethra, ventricular layer, vibrissa	OMIM|617437
oRG	MGLL	1.84176934	0	Enzyme: Lipase	BrainSpLMD|11343;Eurexp|euxassay_002003|Meckel's cartilage, dorsal grey horn, dorsal root ganglion, foregut-midgut junction, hindgut, lobe, mantle layer, marginal layer, midgut, oesophagus, pancreas, stomach, ventricular layer, vibrissa	OMIM|609699
oRG	VCAM1	1.826153101	0	Adhesion molecule	BrainSpLMD|7412	OMIM|192225
oRG	NBPF10	1.825942655	0			OMIM|614000
oRG	RHOC	1.824933941	0	GTPase	BrainSpLMD|389	OMIM|165380
oRG	TTYH1	1.822030511	0	Ion channel	BrainSpLMD|57348;Eurexp|euxassay_018316|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|37048	OMIM|605784
oRG	FUT8	1.820682329	0	Enzyme: Fucosyltransferase	BrainSpLMD|2530	OMIM|602589
oRG	GRM3	1.803839519	0	G protein coupled receptor	BrainSpLMD|2913;BrainSpMouseDev|72231	OMIM|601115;COSMIC||melanoma, oral SCC
oRG	GLI3	1.790316482	0	Transcription factor	BrainSpLMD|2737;Eurexp|euxassay_018378|axial skeleton, mesenchyme, phalanx, ventricular layer;BrainSpMouseDev|14410	OMIM|165240;HPO|2737|1-5 toe syndactyly, 3-4 finger syndactyly, Abnormal lung lobation, Abnormality of earlobe, Accelerated skeletal maturation, Anal atresia, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Bifid epiglottis, Broad hallux phalanx, Broad thumb, Cryptorchidism, Dandy-Walker malformation, Decreased circulating cortisol level, Decreased testicular size, Distal shortening of limbs, Distal urethral duplication, Dysplastic distal thumb phalanges with a central hole, Ectopic kidney, Esophageal atresia, Finger syndactyly, Frontal bossing, Growth hormone deficiency, High forehead, Hip dislocation, Holoprosencephaly, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplasia of the epiglottis, Intellectual disability, severe, Intrauterine growth retardation, Laryngeal cleft, Macrocephaly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Micropenis, Nail dysplasia, Neonatal death, Panhypopituitarism, Postaxial foot polydactyly, Postaxial hand polydactyly, Preaxial foot polydactyly, Preaxial polydactyly, Precocious puberty, Preductal coarctation of the aorta, Prominent occiput, Radial head subluxation, Renal cyst, Renal dysplasia, Renal hypoplasia, Scaphocephaly, Seizures, Short nose, Short stature, Sloping forehead, Telecanthus, Thyroid dysgenesis, Toe syndactyly, Tracheoesophageal fistula, Trigonocephaly, Triphalangeal thumb, Variable expressivity, Ventricular septal defect, Wide nasal bridge
oRG	CPT1A	1.789821448	0	Enzyme: Palmitoyltransferase	BrainSpLMD|1374;Eurexp|euxassay_017982|adrenal gland, bladder, choroid plexus, dorsal root ganglion, glossopharyngeal IX, hindgut, intermediate grey horn, mantle layer, meninges, metanephros, midgut, pancreas, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|600528;HPO|1374|Arrhythmia, Autosomal recessive inheritance, Behavioral abnormality, Cardiomegaly, Coma, Diarrhea, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Fatigue, Feeding difficulties in infancy, Generalized hypotonia, Hemiplegia/hemiparesis, Hepatic failure, Hepatic steatosis, Hepatomegaly, Hyperammonemia, Hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Loss of consciousness, Muscular hypotonia, Neurological speech impairment, Prenatal maternal abnormality, Recurrent encephalopathy, Reduced tendon reflexes, Renal tubular acidosis, Seizures, Skeletal muscle atrophy, Transient hyperlipidemia
oRG	STON2	1.775950506	0	Unclassified	BrainSpLMD|85439	OMIM|608467
oRG	DKK3	1.774836029	0	Ligand	BrainSpLMD|27122;Eurexp|euxassay_018106|aorta, axial skeleton, femur, humerus, mesenchyme, neural retina, rib, ventricular layer;BrainSpMouseDev|30269	OMIM|605416
oRG	DBI	1.770277587	0	Ligand	BrainSpLMD|1622;BrainSpMouseDev|12947	OMIM|125950
oRG	STOM	1.765465132	0	Integral membrane protein	BrainSpLMD|2040;Eurexp|euxassay_005540|bladder, hindgut, left, midgut, rectum, right, wall	OMIM|133090;HPO|2040|Autosomal dominant inheritance, Hemolytic anemia, Hepatomegaly, Hyperbilirubinemia, Increased intracellular sodium, Increased red cell osmotic fragility, Jaundice, Reticulocytosis, Splenomegaly, Stomatocytosis
oRG	NRG1	1.762218458	0	Growth factor	BrainSpLMD|3084;Eurexp|euxassay_007625|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, testis, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|84285	SFARI||Autism, 5 - Hypothesized but untested;OMIM|142445;COSMIC||NSCLC
oRG	SFRP1	1.75588702	0	Secreted polypeptide	BrainSpLMD|6422;BrainSpMouseDev|20140	OMIM|604156
oRG	ITGA6	1.753092966	0	Cell surface receptor	BrainSpLMD|3655;Eurexp|euxassay_012071|cortex, incisor, lung, mantle layer, metanephros, molar, pancreas, penis, rectum, ventral grey horn, ventricle	OMIM|147556;HPO|3655|Abdominal distention, Abnormality of the genitourinary system, Anonychia, Aplasia cutis congenita, Aplasia of the bladder, Arthrogryposis multiplex congenita, Atrophic scars, Autosomal recessive inheritance, Axillary pterygia, Congenital onset, Congenital pyloric atresia, Death in infancy, Ectropion, Elevated maternal serum alpha-fetoprotein, Esophageal atresia, Fragile skin, Hematuria, Hydronephrosis, Hypoplasia of dental enamel, Intestinal atresia, Intractable diarrhea, Junctional split, Milia, Nail dysplasia, Nail dystrophy, Nausea and vomiting, Oral mucosal blisters, Polyhydramnios, Recurrent skin infections, Renal duplication, Renal dysplasia, Ureterocele, Urethral stricture, Urinary bladder inflammation
oRG	FABP5P7	1.751185604	0			
oRG	ZFP36L1	1.751059687	0	Transcription factor	BrainSpLMD|677;Eurexp|euxassay_007310|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|11978	OMIM|601064
oRG	KCNK10	1.748610042	0	Voltage gated channel	BrainSpLMD|54207	OMIM|605873
oRG	BMPR1B	1.743662772	0	Receptor serine/threonine kinase	BrainSpLMD|658;BrainSpMouseDev|11953	OMIM|603248;HPO|658|2-3 toe syndactyly, Abnormality of epiphysis morphology, Abnormality of the fingernails, Abnormality of the hip bone, Abnormality of the radius, Abnormality of the thumb, Abnormality of the ulna, Abnormality of tibia morphology, Aplasia of the middle phalanges of the toes, Aplasia of the proximal phalanges of the hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the 1st metacarpal, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Aplasia/Hypoplasia of the thumb, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bowing of the long bones, Brachydactyly, Bracket epiphysis of the middle phalanx of the 2nd finger, Bracket epiphysis of the middle phalanx of the 5th finger, Broad foot, Broad hallux, Carpal synostosis, Clinodactyly of the 5th finger, Complete duplication of distal phalanx of the thumb, Cone-shaped epiphysis, Delayed speech and language development, Disproportionate short-limb short stature, Fibular aplasia, Fibular hypoplasia, Hallux valgus, Hypergonadotropic hypogonadism, Hypoplasia of the ulna, Hypoplasia of the uterus, Joint stiffness, Limitation of joint mobility, Medially deviated second toe, Micromelia, Narrow nasal bridge, Poor motor coordination, Postaxial hand polydactyly, Primary amenorrhea, Pseudoepiphyses of the 2nd finger, Radial deviation of finger, Radial deviation of the 2nd finger, Sarcoma, Short 2nd finger, Short distal phalanx of the 2nd finger, Short distal phalanx of the thumb, Short femoral neck, Short finger, Short foot, Short hallux, Short metatarsal, Short middle phalanx of finger, Short middle phalanx of the 5th finger, Short phalanx of finger, Short proximal phalanx of finger, Short proximal phalanx of thumb, Short stature, Short thumb, Short tibia, Short toe, Skeletal dysplasia, Stippling of the epiphysis of the distal phalanx of the thumb, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Triangular shaped middle phalanx of the 2nd finger, Triangular shaped middle phalanx of the 5th finger, Type A2 brachydactyly, Type C brachydactyly, Ulnar deviation of finger, Ulnar deviation of the 2nd finger, Widened proximal tibial metaphyses
oRG	PTPRM	1.729096451	0	Receptor tyrosine phosphatase	BrainSpLMD|5797;Eurexp|euxassay_010519|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|176888
oRG	CTD.2282P23.2	1.722004772	0			
oRG	GPR98	1.719564677	0			
oRG	PDLIM5	1.717929836	0	Adapter molecule	BrainSpLMD|10611;Eurexp|euxassay_011640|alar columns, axial skeleton, bladder, choroid plexus, clavicle, dorsal grey horn, floor plate, floorplate, mesenchyme, metanephros, midgut, oesophagus, stomach, submandibular gland primordium, trachea, urethra, ventral grey horn, ventricular layer	OMIM|605904
oRG	COL4A5	1.705651499	0	Extracellular matrix protein	BrainSpLMD|1287;Eurexp|euxassay_015894|bladder, ductus deferens, floorplate, lens, lung, meninges, stomach, sublingual gland primordium, submandibular gland primordium, thyroid, umbilical artery, umbilical vein, urethra, ventricular layer;BrainSpMouseDev|12613	OMIM|303630;HPO|1287|Anterior lenticonus, Congenital cataract, Corneal erosion, Diffuse glomerular basement membrane lamellation, Diffuse leiomyomatosis, Heterogeneous, Hypertension, Hypoparathyroidism, Ichthyosis, Microscopic hematuria, Myopia, Nephritis, Nephrotic syndrome, Progressive, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidney disease, Thickening of the glomerular basement membrane, Thrombocytopenia, X-linked dominant inheritance
oRG	FGFBP3	1.699179528	0	Unclassified	BrainSpLMD|143282;Eurexp|euxassay_000173|basal columns, basal plate, corpus striatum, floor plate, floorplate, mantle layer, metencephalon, spinal cord, ventral grey horn, ventricular layer	SFARI||Autism, 5 - Hypothesized but untested
oRG	RAB31	1.684751427	0	GTPase	BrainSpLMD|11031;Eurexp|euxassay_003248|axial muscle, basal plate, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, submandibular gland primordium, thoracic, trigeminal V, vagus X, vibrissa	OMIM|605694
oRG	CST3	1.681421489	0	Protease inhibitor	BrainSpLMD|1471;Eurexp|euxassay_004853|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|12793	OMIM|604312;HPO|1471|Autosomal dominant inheritance, Cerebral amyloid angiopathy, Cerebral hemorrhage, Dementia, Generalized amyloid deposition, Intracranial hemorrhage, Stroke
oRG	GULP1	1.681233962	0	Adapter molecule	BrainSpLMD|51454	OMIM|608165
oRG	LIPG	1.673549002	0	Enzyme: Lipase	BrainSpLMD|9388;Eurexp|euxassay_018714|4th ventricle, incisor, larynx, lung, metanephros, midgut, molar, naris, nasal septum, olfactory, rectum, respiratory, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|603684
oRG	MAST4	1.668728925	0	Unclassified	BrainSpLMD|375449;Eurexp|euxassay_011099|mantle layer, marginal layer, thymus primordium, ventral grey horn	
oRG	PHACTR2	1.666666516	0	Enzyme regulator	BrainSpLMD|9749;Eurexp|euxassay_007706|alimentary system, cardiovascular system, cavities and their linings, choroid invagination, choroid plexus, gland, integumental system, limb, mesenchyme, renal/urinary system, reproductive system, respiratory system, roof plate, sensory organ, tail, ventricular layer, vertebral axis muscle system	OMIM|608724
oRG	LTBP1	1.662962025	0	Extracellular matrix protein	BrainSpLMD|4052	OMIM|150390
oRG	PLAGL1	1.657695394	0	Transcription regulatory protein	BrainSpLMD|5325;BrainSpMouseDev|22391	OMIM|603044;HPO|5325|Abnormality of earlobe, Abnormality of the pancreatic islet cells, Arthrogryposis multiplex congenita, Bilateral ptosis, Cardiomegaly, Contractures of the joints of the lower limbs, Cryptorchidism, Dehydration, Downturned corners of mouth, Failure to thrive, Generalized myoclonic seizures, Gingival overgrowth, Global developmental delay, Glycosuria, Hepatomegaly, High palate, Hyperglycemia, Hypoplastic fingernail, Hypovolemia, Intellectual disability, Intrauterine growth retardation, Ketonuria, Labial hypertrophy, Macroglossia, Micrognathia, Motor delay, Neonatal insulin-dependent diabetes mellitus, Neonatal respiratory distress, Oligohydramnios, Postnatal growth retardation, Precocious puberty, Prominent metopic ridge, Prominent nose, Prominent occiput, Retrognathia, Shallow orbits, Small anterior fontanelle, Transient neonatal diabetes mellitus, Umbilical hernia, Ventricular septal defect, Weight loss
oRG	DTNA	1.650827022	0	Unclassified	BrainSpLMD|1837;Eurexp|euxassay_010455|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|601239;HPO|1837|Atrial fibrillation, Autosomal dominant inheritance, Congestive heart failure, Hypoplastic left heart, Left ventricular hypertrophy, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Patent ductus arteriosus, Sudden cardiac death, Ventricular arrhythmia, Ventricular septal defect
oRG	NBPF14	1.645986843	0	Unclassified		OMIM|614003
oRG	KIAA1161	1.640368096	0			
oRG	ITM2C	1.637298311	0	Integral membrane protein	BrainSpLMD|81618	OMIM|609554
oRG	ATP2B4	1.633458998	0	ATPase	BrainSpLMD|493;Eurexp|euxassay_013200|lobe, ventral grey horn	OMIM|108732
oRG	LDLR	1.628357906	0	Cell surface receptor	BrainSpLMD|3949;Eurexp|euxassay_010458|adrenal gland, cervical, cervico-thoracic, clavicle, hindgut, incisor, mandible, maxilla, metanephros, midgut, orbito-sphenoid, otic capsule, rib, submandibular gland primordium, thoracic, turbinate, ventral grey horn	OMIM|606945;HPO|3949|Abnormality of internal carotid artery, Angina pectoris, Aortic atherosclerosis, Autosomal dominant inheritance, Cerebral artery atherosclerosis, Corneal arcus, Coronary atherosclerosis, Dyspnea, Heart murmur, Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia, Hypertension, Increased circulating low-density lipoprotein levels, Left ventricular failure, Myocardial infarction, Myocardial steatosis, Peripheral arterial stenosis, Precocious atherosclerosis, Premature arteriosclerosis, Premature coronary artery disease, Renal artery stenosis, Sudden cardiac death, Xanthelasma
oRG	HEATR5A	1.616657669	0	Unclassified	BrainSpLMD|25938;Eurexp|euxassay_011074|glossopharyngeal IX, mantle layer, neural retina, trigeminal V, ventricle	
oRG	SOX9	1.610336683	0	Transcription factor	BrainSpLMD|6662;Eurexp|euxassay_002633|axial skeleton, basisphenoid bone, calyces, exoccipital bone, femur, lung, mesenchyme, naris, nasal septum, nucleus pulposus, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, pharyngo-tympanic tube, trachea, turbinate, ventricular layer, vibrissa;BrainSpMouseDev|20444	OMIM|608160;HPO|6662|11 pairs of ribs, Abnormal heart morphology, Abnormal scrotal rugation, Abnormal sex determination, Abnormality of male internal genitalia, Abnormality of the labia, Abnormality of the pharynx, Abnormality of the scrotum, Abnormality of the uterus, Absent sternal ossification, Ambiguous genitalia, Anterior tibial bowing, Apnea, Autosomal dominant inheritance, Azoospermia, Bifid scrotum, Blepharophimosis, Cleft palate, Clitoral hypertrophy, Cryptorchidism, Decreased fertility, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Depressed nasal bridge, Depressed nasal ridge, Disproportionate short-limb short stature, Dysgerminoma, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Failure to thrive, Female external genitalia in individual with 46,XY karyotype, Femoral bowing, Fibular hypoplasia, Flat face, Generalized hypotonia, Glossoptosis, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hearing impairment, High forehead, Hip dislocation, Hydrocephalus, Hydronephrosis, Hypergonadotropic hypogonadism, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the vagina, Hypoplastic cervical vertebrae, Hypoplastic iliac wing, Hypoplastic inferior ilia, Hypoplastic scapulae, Hypospadias, Kyphoscoliosis, Laryngomalacia, Low-set ears, Macrocephaly, Male hypogonadism, Male infertility, Male pseudohermaphroditism, Micrognathia, Micropenis, Narrow chest, Neonatal respiratory distress, Neonatal short-limb short stature, Osteoporosis, Polycystic ovaries, Polyhydramnios, Poorly ossified cervical vertebrae, Primary amenorrhea, Proptosis, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Scrotal hypoplasia, Sex reversal, Short neck, Short palpebral fissure, Short stature, Shortening of all phalanges of fingers, Shortening of all phalanges of the toes, Skin dimples, Small abnormally formed scapulae, Small face, Sparse axillary hair, Sparse pubic hair, Streak ovary, Talipes equinovarus, Testicular dysgenesis, Thin ribs, Thoracic hypoplasia, Tibial bowing, Tracheobronchomalacia, True hermaphroditism, Upper airway obstruction, Urogenital sinus anomaly, Vanishing testis, Wide anterior fontanel
oRG	LRIG1	1.609785827	0	Cell surface receptor	BrainSpLMD|26018	OMIM|608868
oRG	LITAF	1.609508936	0	Transcription factor	BrainSpLMD|9516;Eurexp|euxassay_013657|axial skeleton, incisor, molar, submandibular gland primordium, urethra, ventricular layer, vestibular component, vibrissa	OMIM|603795;HPO|9516|Autosomal dominant inheritance, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Juvenile onset, Onion bulb formation, Pes cavus, Segmental peripheral demyelination/remyelination
oRG	CA12	1.606272681	0	Enzyme: Carbonic anhydrase	BrainSpLMD|771;Eurexp|euxassay_018906|choroid plexus, clavicle, epithelium, incisor, molar, nasal septum, olfactory, oral epithelium, submandibular gland primordium, vibrissa	OMIM|603263;HPO|771|Autosomal dominant inheritance, Autosomal recessive inheritance, Dehydration, Failure to thrive, Feeding difficulties, Hyperkalemia, Hyponatremia, Infantile onset
oRG	CDO1	1.598493506	0	Enzyme: Oxidoreductase	BrainSpLMD|1036	OMIM|603943
oRG	OAT	1.591988286	0	Enzyme: Aminotransferase	BrainSpLMD|4942	OMIM|613349;HPO|4942|Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Blindness, Chorioretinal atrophy, EMG abnormality, Myopia, Nyctalopia, Posterior subcapsular cataract, Proximal muscle weakness
oRG	PAX6	1.587050446	0	Transcription factor	BrainSpLMD|5080;BrainSpMouseDev|18274	SFARI||Autism, No category;OMIM|607108;HPO|5080|Abnormal best corrected visual acuity test, Abnormality of movement, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the vagina, Abnormality of vision, Amblyopia, Aniridia, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the macula, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Cerebellar hypoplasia, Chorioretinal coloboma, Congenital glaucoma, Congenital nystagmus, Contiguous gene syndrome, Corneal opacity, Cryptorchidism, Displacement of the external urethral meatus, EEG abnormality, Everted lower lip vermilion, Generalized hyperpigmentation, Glaucoma, Global developmental delay, Hearing abnormality, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Hypoplasia of the iris, Hypospadias, Intellectual disability, Keratitis, Mask-like facies, Microcephaly, Micrognathia, Motor delay, Muscular hypotonia, Nephroblastoma, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Optic disc hypoplasia, Optic nerve aplasia, Optic nerve coloboma, Optic nerve hypoplasia, Peripheral vitreous opacities, Peters anomaly, Postural tremor, Presenile cataracts, Pseudopapilledema, Ptosis, Reduced visual acuity, Retinal detachment, Scanning speech, Short stature, Slurred speech, Somatic mutation, Strabismus, Streak ovary, Visual impairment, Visual loss
oRG	NCAN	1.581575742	0	Extracellular matrix protein	BrainSpLMD|1463;Eurexp|euxassay_015922|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, intermediate grey horn, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, ventral grey horn, vestibulocochlear VIII	OMIM|600826
oRG	SLC1A2	1.577645254	0	Membrane transport protein	BrainSpLMD|6506;Eurexp|euxassay_009471|brain, spinal cord;BrainSpMouseDev|20273	SFARI||Autism, No category;OMIM|600300;HPO|6506|Autosomal dominant inheritance, Cerebral atrophy, Epileptic encephalopathy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Intellectual disability, profound, Kyphoscoliosis, Neonatal onset, Seizures
oRG	CD99	1.56765742	0	Unclassified		OMIM|450000
oRG	DDAH1	1.563194636	0	Enzyme: Hydrolase	BrainSpLMD|23576;Eurexp|euxassay_003952|mantle layer, ventral grey horn, ventricular layer	OMIM|604743
oRG	TFAP2C	1.559232659	0	Transcription factor	BrainSpLMD|7022;BrainSpMouseDev|21181	OMIM|601602
oRG	MGAT4C	1.558317671	0	Enzyme: Glucosaminyltransferase	BrainSpLMD|25834	OMIM|607385
oRG	GPM6B	1.55733759	0	Integral membrane protein	BrainSpLMD|2824;Eurexp|euxassay_011476|intermediate grey horn, mantle layer, marginal layer, ventral grey horn, ventricular layer	OMIM|300051
oRG	COMT	1.557061183	0	Enzyme: Acyltransferase	BrainSpLMD|1312;Eurexp|euxassay_018193|basal columns, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, mantle layer, thymus primordium, trigeminal V, vagus X;BrainSpMouseDev|12629	OMIM|116790;HPO|1312|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
oRG	CYP51A1	1.544519859	0	Unclassified	BrainSpLMD|1595;Eurexp|euxassay_010645|adrenal gland, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, mandible, maxilla, molar, neural retina, spinal cord, testis, thoracic, trigeminal V, vibrissa	OMIM|601637
oRG	PON2	1.539869356	0	Enzyme: Esterase	BrainSpLMD|5445	OMIM|602447;HPO|5445|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
oRG	ZFP36L2	1.539004296	0	Transcription factor	BrainSpLMD|678	OMIM|612053
oRG	AXL	1.533704179	0	Receptor tyrosine kinase	BrainSpLMD|558;Eurexp|euxassay_001756|cardiovascular system, gland, head mesenchyme, integumental system, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|26110	OMIM|109135;HPO|558|Autosomal dominant inheritance, Autosomal recessive inheritance, Cryptorchidism, Decreased testicular size, Gynecomastia, Hypogonadotrophic hypogonadism, Micropenis, Primary amenorrhea, Sparse axillary hair, Sparse pubic hair
oRG	SALL3	1.527960372	0	DNA binding protein	BrainSpLMD|27164;Eurexp|euxassay_010911|cochlea, glomeruli, inner ear, lip, mantle layer, medulla oblongata, palatal shelf, penis, utricle, valve, ventricular layer;BrainSpMouseDev|20451	OMIM|605079
oRG	LGALS3BP	1.525647697	0	Extracellular matrix protein	BrainSpLMD|3959;Eurexp|euxassay_002816|axial muscle, choroid plexus, foregut-midgut junction, hindgut, integumental system, lateral recess, lobe, midgut, pancreas, rectum, renal/urinary system, stomach, thymus primordium	OMIM|600626
oRG	CREB5	1.523555621	0	Transcription factor	BrainSpLMD|9586;Eurexp|euxassay_016386|axial skeleton, oral epithelium	
oRG	PRDM16	1.499342357	0	Transcription factor	BrainSpLMD|63976	OMIM|605557;COSMIC||MDS, AML;HPO|63976|Abnormal morphology of the left ventricle, Absent speech, Agenesis of corpus callosum, Autism, Autosomal dominant inheritance, Brachycephaly, Brachydactyly, Camptodactyly of finger, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Congestive heart failure, Constipation, Deeply set eye, Delayed cranial suture closure, Depressed nasal bridge, Depressed nasal ridge, Dilated cardiomyopathy, Dysphagia, EEG abnormality, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Gait disturbance, Gastroesophageal reflux, Global developmental delay, High-grade hypermetropia, Horizontal eyebrow, Intellectual disability, Left ventricular noncompaction, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Midface retrusion, Muscular hypotonia, Narrow mouth, Pointed chin, Poor speech, Seizures, Self-injurious behavior, Short foot, Stereotypy, Strabismus, Ventriculomegaly, Wide nasal bridge
oRG	LGALS3	1.486211117	0	Transcription regulatory protein	BrainSpLMD|3958	OMIM|153619
oRG	DOCK1	1.485737889	0	Guanine nucleotide exchange factor	BrainSpLMD|1793	SFARI||Autism, 4 - Minimal evidence;OMIM|601403
oRG	NOTCH3	1.482553107	0	Cell surface receptor	BrainSpLMD|4854;BrainSpMouseDev|17898	OMIM|600276;HPO|4854|Abnormal electroretinogram, Abnormal form of the vertebral bodies, Abnormality of the hair, Abnormality of the metaphysis, Abnormality of the middle ear ossicles, Abnormality of the musculature, Abnormality of the rib cage, Abnormality of the skin, Abnormality of the skull, Abnormality of the thorax, Abnormality of visual evoked potentials, Adult onset, Amaurosis fugax, Aphasia, Arachnoid cyst, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Autosomal dominant inheritance, Biconcave vertebral bodies, Bone cyst, Cerebral cortical atrophy, Cerebral ischemia, Chondrocalcinosis, Coarse hair, Coma, Conductive hearing impairment, Confusion, Cranial nerve paralysis, Craniofacial hyperostosis, Cryptorchidism, Dementia, Dental crowding, Depressivity, Developmental regression, Dolichocephaly, Downslanted palpebral fissures, Dural ectasia, EEG abnormality, Elevated serum creatine phosphokinase, Fever, Gait disturbance, Generalized hypotonia, Gingival fibromatosis, Hemiplegia, High palate, High, narrow palate, Hypertelorism, Impaired pain sensation, Inguinal hernia, Joint hyperflexibility, Joint hypermobility, Kyphosis, Leukoencephalopathy, Long philtrum, Low posterior hairline, Low-set ears, Malar flattening, Memory impairment, Meningocele, Micrognathia, Migraine, Motor delay, Narrow face, Neoplasm of the lung, Neoplasm of the skin, Nonarteritic anterior ischemic optic neuropathy, Patent ductus arteriosus, Pectus excavatum, Platybasia, Posteriorly rotated ears, Prominent metopic ridge, Pseudobulbar paralysis, Ptosis, Recurrent subcortical infarcts, Retinal arteriolar tortuosity, Sclerosis of skull base, Scoliosis, Seizures, Sensory neuropathy, Short nasal bridge, Short neck, Short stature, Smooth philtrum, Spasticity, Stroke, Subcortical dementia, Subcutaneous nodule, Syringomyelia, Umbilical hernia, Urinary incontinence, Varicose veins, Vertebral fusion, Visual impairment, Wormian bones
oRG	DOK5	1.480767897	0	Adapter molecule	BrainSpLMD|55816	OMIM|608334
oRG	HMGCS1	1.478201148	0	Enzyme: Synthase	BrainSpLMD|3157	OMIM|142940
oRG	FAM171B	1.477399873	0	Integral membrane protein	BrainSpLMD|165215;Eurexp|euxassay_008581|dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, ventricular layer, vestibulocochlear VIII	
oRG	AKAP12	1.467371798	0	Anchor protein	BrainSpLMD|9590	OMIM|604698
oRG	TRPS1	1.460330085	0	Transcription factor	BrainSpLMD|7227;Eurexp|euxassay_011487|axial skeleton, basioccipital bone, basisphenoid bone, bladder, clavicle, cornea, cricoid, diaphragm, dorsal grey horn, exoccipital bone, femur, humerus, knee, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, rib, skeletal muscle, sternum, stomach, submandibular gland primordium, thyroid, tongue, trachea, ureter, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|58142	OMIM|604386;HPO|7227|Abnormality of the nervous system, Abnormally low-pitched voice, Accelerated bone age after puberty, Aplasia/Hypoplasia of the mandible, Arthralgia, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Bone pain, Bulbous nose, Camptodactyly of finger, Carious teeth, Chin with horizontal crease, Clinodactyly of the 5th finger, Concave nail, Cone-shaped epiphyses of the middle phalanges of the hand, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphyses of the proximal phalanges of the hand, Cone-shaped epiphysis, Coxa magna, Deep philtrum, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Fine hair, Flat capital femoral epiphysis, Fragile nails, Frontal bossing, Generalized hypotonia, High palate, Hyperlordosis, Increased number of teeth, Infantile muscular hypotonia, Intellectual disability, Ivory epiphyses of the distal phalanges of the hand, Joint dislocation, Joint hyperflexibility, Leukonychia, Long philtrum, Long upper lip, Low-set, posteriorly rotated ears, Macrotia, Microdontia, Micrognathia, Multiple long-bone exostoses, Muscular hypotonia, Narrow palate, Osteoarthritis, Osteopenia, Pear-shaped nose, Pectus carinatum, Pes planus, Protruding ear, Recurrent respiratory infections, Redundant skin, Scapular winging, Scoliosis, Short distal phalanx of finger, Short finger, Short foot, Short metacarpal, Short metatarsal, Short palm, Short phalanx of finger, Short stature, Shortening of all phalanges of fingers, Slow-growing hair, Smooth philtrum, Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Sparse lateral eyebrow, Sparse scalp hair, Swelling of proximal interphalangeal joints, Thick eyebrow, Thin eyebrow, Thin nail, Thin upper lip vermilion, Triangular face, Underdeveloped nasal alae
oRG	HES1	1.459481211	0	Transcription factor	BrainSpLMD|3280;Eurexp|euxassay_019489|epithelium, floor plate, floorplate, hindgut, incisor, larynx, lung, metanephros, metatarsus, midgut, molar, neural retina, oesophagus, olfactory, oral epithelium, pancreas, phalanx, pharyngo-tympanic tube, skeleton, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|14981	OMIM|139605
oRG	VIM	1.452331581	0	Cytoskeletal protein	BrainSpLMD|7431	OMIM|193060;HPO|7431|Autosomal dominant inheritance, Congenital onset, Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract
oRG	SLC9A3R1	1.44779794	0	Membrane bound ligand	BrainSpLMD|9368;Eurexp|euxassay_012152|calyces, epithelium, incisor, liver, marginal layer, mesothelium, midgut, molar, olfactory, pharyngo-tympanic tube, pituitary, rectum, stomach, thymus primordium, trigeminal V, urogenital mesentery, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|26686	OMIM|604990;HPO|9368|Autosomal dominant inheritance, Hyperphosphaturia, Hypophosphatemia, Increased susceptibility to fractures, Nephrolithiasis, Osteopenia, Osteoporosis, Renal phosphate wasting
oRG	MFGE8	1.437367385	0	Adhesion molecule	BrainSpLMD|4240;Eurexp|euxassay_010873|Meckel's cartilage, epithelium, oesophagus, ovary, pharyngo-tympanic tube, stomach, submandibular gland primordium, ventricular layer;BrainSpMouseDev|17073	OMIM|602281
oRG	TRIM9	1.43706677	0	Unclassified	BrainSpLMD|114088;Eurexp|euxassay_010509|mantle layer, molar, ventricular layer	OMIM|606555
oRG	ITGB8	1.433491983	0	Cell surface receptor	BrainSpLMD|3696;Eurexp|euxassay_011385|axial skeleton, brachial plexus, nasal cavity, optic chiasma, optic nerve, phalanx, submandibular gland primordium, testis, valve, ventricular layer, vibrissa;BrainSpMouseDev|107845	OMIM|604160
oRG	GNG12	1.426504351	0	G protein	BrainSpLMD|55970;Eurexp|euxassay_002072|ventricular layer	OMIM|615405
oRG	B3GAT2	1.425506231	0	Enzyme: Transferase;Integral membrane protein	BrainSpLMD|135152;BrainSpMouseDev|93607	OMIM|607497
oRG	PTGFRN	1.422313097	0	Integral membrane protein	BrainSpLMD|5738;Eurexp|euxassay_007366|axial skeleton, clavicle, floor plate, floorplate, lung, mantle layer, mesenchyme, palatal shelf, penis, sternum, submandibular gland primordium, ventricular layer, vibrissa	OMIM|601204
oRG	SCD	1.420234709	0	Enzyme: Oxidoreductase	BrainSpLMD|6319;Eurexp|euxassay_012236|adrenal gland, axial skeleton, basal columns, cervico-thoracic, clavicle, dorsal root ganglion, ductus deferens, embryo, facial VII, glossopharyngeal IX, hindgut, incisor, larynx, lens, lobe, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, neural retina, nucleus pulposus, orbito-sphenoid, otic capsule, pancreas, petrous part, pharyngo-tympanic tube, pituitary, rectum, rib, skeletal muscle, stomach, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, turbinate, urethra, vagus X, vault of skull, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|604031
oRG	RFX4	1.416957945	0	DNA binding protein	BrainSpLMD|5992;Eurexp|euxassay_005798|ventricular layer;BrainSpMouseDev|46978	OMIM|603958
oRG	SFXN5	1.410489953	0	Transport/cargo protein	BrainSpLMD|94097;Eurexp|euxassay_014475|ventricular layer	OMIM|615572
oRG	LRRC17	1.389231178	0	Unclassified	BrainSpLMD|10234	
oRG	ABHD4	1.388853651	0	Unclassified	BrainSpLMD|63874;Eurexp|euxassay_001761|dorsal root ganglion, marginal layer, trigeminal V, ventricular layer;BrainSpMouseDev|69666	
oRG	NADK2	1.38739445	0	Unclassified	BrainSpLMD|133686	OMIM|615787;HPO|133686|Autosomal recessive inheritance, Cerebral atrophy, Choreoathetosis, Cortical visual impairment, Death in infancy, Decreased plasma free carnitine, Dystonia, Encephalopathy, Failure to thrive, Global developmental delay, Hyperlysinemia, Leukodystrophy, Microcephaly, Muscular hypotonia, Neonatal hypotonia, Nystagmus, Seizures, Spasticity, Tetraplegia, Ventriculomegaly
oRG	LINC00998	1.385435367	0			
oRG	NFE2L2	1.385271276	0	Transcription factor	BrainSpLMD|4780;Eurexp|euxassay_018087|larynx, midgut, rectum, stomach, submandibular gland primordium, thyroid, trachea;BrainSpMouseDev|17791	OMIM|600492;COSMIC||NSCLC, HNSCC
oRG	FUT9	1.383379294	0	Enzyme: Fucosyltransferase	BrainSpLMD|10690	OMIM|606865
oRG	PTPRF	1.380731291	0	Receptor tyrosine phosphatase	BrainSpLMD|5792	OMIM|179590;HPO|5792|Absent nipple, Autosomal recessive inheritance, Broad nasal tip, Small earlobe, Smooth philtrum
oRG	MSN	1.370723275	0	Cytoskeletal protein	BrainSpLMD|4478;Eurexp|euxassay_009365|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, organ system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	SFARI||Autism, 5 - Hypothesized but untested;OMIM|309845;COSMIC||ALCL;HPO|4478|Decreased antibody level in blood, Eczema, Lymphopenia, Recurrent respiratory infections, Recurrent urinary tract infections, X-linked recessive inheritance
oRG	SEMA6A	1.356597055	0	Integral membrane protein	BrainSpLMD|57556;Eurexp|euxassay_011666|axial skeleton, clavicle, cochlea, mandible, mantle layer, marginal layer, maxilla, meninges, mesenchyme, metanephros, neural retina, palatal shelf, skeletal muscle, submandibular gland primordium, thyroid, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|20121	OMIM|605885
oRG	FKBP9	1.349575135	0	Chaperone	BrainSpLMD|11328;Eurexp|euxassay_007465|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, metatarsus, nasal septum, nucleus pulposus, orbito-sphenoid, otic capsule, phalanx, radius, rib, sternum, temporal bone, thyroid, tibia, turbinate, ulna, vault of skull	OMIM|616257;COSMIC||glioma
oRG	INTU	1.348669145	0	Unclassified	BrainSpLMD|27152	OMIM|610621
oRG	IDI1	1.343166914	0	Enzyme: Isomerase	BrainSpLMD|3422;Eurexp|euxassay_011601|adrenal gland, cervical, cervico-thoracic, clavicle, cortex, dorsal root ganglion, glossopharyngeal IX, hindgut, incisor, lobe, mandible, mantle layer, maxilla, midgut, molar, neural retina, olfactory, orbito-sphenoid, pancreas, rectum, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ	OMIM|604055
oRG	FSTL1	1.333906731	0	Protease inhibitor	Eurexp|euxassay_003685|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail;BrainSpMouseDev|14090	OMIM|605547
oRG	REXO2	1.33001839	0	Ribonuclease	BrainSpLMD|25996	OMIM|607149
oRG	HTRA1	1.329497027	0	Serine protease	BrainSpLMD|5654;Eurexp|euxassay_005061|anterior abdominal wall, aorta, axial muscle, axial skeleton, choroid plexus, diaphragm, humerus, incisor, lung, mesenchyme, metatarsus, molar, nucleus pulposus, pancreas, pelvic girdle, pharyngo-tympanic tube, rest of mesenchyme, rest of mesencyme, roof plate, scapula, skeletal muscle, sternum, tongue, trachea, ventricular layer, vibrissa	OMIM|602194;HPO|5654|Abnormality of extrapyramidal motor function, Alopecia, Arteriosclerosis of small cerebral arteries, Ataxia, Autosomal recessive inheritance, Babinski sign, Dementia, Diffuse demyelination of the cerebral white matter, Diffuse white matter abnormalities, Dysarthria, Gait disturbance, Hyperreflexia, Leukoencephalopathy, Low back pain, Progressive encephalopathy, Pseudobulbar signs, Rigidity, Spasticity, Urinary incontinence
oRG	TSPAN7	1.315503722	0	Cell surface receptor	BrainSpLMD|7102;Eurexp|euxassay_015336|bladder, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, pancreas, thoracic, trigeminal V, vagus X, ventricular layer, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|300096;HPO|7102|Intellectual disability, Intellectual disability, mild, X-linked recessive inheritance
oRG	PALLD	1.311464445	0	Unclassified	BrainSpLMD|23022	OMIM|608092
oRG	SHROOM3	1.31122865	0	Adapter molecule	BrainSpLMD|57619;Eurexp|euxassay_012216|cortex, midgut, olfactory, ventricular layer, vertebral axis muscle system	OMIM|604570
oRG	LRP4	1.310692891	0	Cell surface receptor	Eurexp|euxassay_011129|alar columns, epithelium, glomeruli, incisor, mantle layer, molar, olfactory, ventricular layer, vibrissa	OMIM|604270;HPO|4038|2-3 finger syndactyly, Abnormal cortical bone morphology, Abnormality of the nose, Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital onset, Craniofacial hyperostosis, Curved distal phalanges of the hand, Cutaneous finger syndactyly, Diaphyseal thickening, Difficulty walking, Downslanted palpebral fissures, Facial palsy, Feeding difficulties, Fingernail dysplasia, Frontal bossing, Hearing impairment, Hypertelorism, Hypoplasia of the radius, Hypoplasia of the ulna, Hyporeflexia, Increased bone mineral density, Macrocephaly, Mandibular prognathia, Micrognathia, Nail dysplasia, Prominent forehead, Ptosis, Renal agenesis, Renal hypoplasia, Sensorineural hearing impairment, Short finger, Syndactyly, Tall stature
oRG	APOL2	1.309703634	0	Integral membrane protein;Transport/cargo protein	BrainSpLMD|23780;Eurexp|euxassay_010310|liver	OMIM|607252
oRG	RFTN2	1.297129142	0	Unclassified	BrainSpLMD|130132	
oRG	TAGLN2	1.296093552	0	Unclassified	BrainSpLMD|8407;Eurexp|euxassay_001884|ventricular layer;BrainSpMouseDev|21107	OMIM|604634
oRG	JUN	1.292866917	0	Transcription factor	BrainSpLMD|3725;Eurexp|euxassay_017995|mantle layer, metacarpus, metatarsus, olfactory, phalanx, ventral grey horn, ventricular layer;BrainSpMouseDev|16249	OMIM|165160;COSMIC||sarcoma
oRG	FAT1	1.29190253	0	Adhesion molecule	BrainSpLMD|2195;Eurexp|euxassay_013462|axial skeleton, lung, mandible, maxilla, mesenchyme, rest of mesenchyme, sternum, submandibular gland primordium, vibrissa;BrainSpMouseDev|13884	SFARI||Autism, No category;OMIM|600976;COSMIC||oral squamous cell, chemorefractory CLL, head and neck, pancreatic acinar cell carcinoma, pancreatic
oRG	PDLIM3	1.291630969	0	Unclassified	BrainSpLMD|27295	OMIM|605889
oRG	CNN3	1.277187539	0	Cytoskeletal associated protein	BrainSpLMD|1266;Eurexp|euxassay_009765|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|602374
oRG	SAT1	1.274608113	0	Enzyme: Acyltransferase	BrainSpLMD|6303;Eurexp|euxassay_018693|bladder, incisor, metanephros, olfactory, urethra, vibrissa	OMIM|313020;HPO|6303|Blepharitis, Conjunctivitis, Corneal dystrophy, Dry skin, Dystrophic fingernails, Ectropion, Facial erythema, Follicular hyperkeratosis, Folliculitis, Heterogeneous, Keratitis, Nail dysplasia, Palmoplantar keratoderma, Perifollicular fibrosis, Photophobia, Scarring alopecia of scalp, Sparse and thin eyebrow, Sparse eyelashes, X-linked recessive inheritance
oRG	FAM19A5	1.268405941	0	Chemokine	BrainSpLMD|25817;Eurexp|euxassay_011592|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, marginal layer, spinal cord, trigeminal V, vagus X	OMIM|617499
oRG	RP11.76I14.1	1.265687715	0			
oRG	NPAS3	1.26437362	0	Transcription factor	BrainSpLMD|64067;Eurexp|euxassay_009424|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|27131	OMIM|609430
oRG	PLCE1	1.262204969	0	Guanine nucleotide exchange factor	BrainSpLMD|51196;Eurexp|euxassay_014545|floor plate, floorplate	OMIM|608414;HPO|51196|Autosomal recessive inheritance, Childhood onset, Diffuse mesangial sclerosis, Edema, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Progressive, Proteinuria, Stage 5 chronic kidney disease
oRG	AC253572.1	1.259769472	0			
oRG	MSMO1	1.256859183	0	Unclassified	BrainSpLMD|6307;Eurexp|euxassay_000744|Meckel's cartilage, adrenal gland, calyces, chondrocranium, dorsal root ganglion, facial VII, foregut-midgut junction, hindgut, incisor, inferior, lobe, mesenchyme, midgut, molar, olfactory, stomach, superior, testis, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|607545;HPO|6307|Arthralgia, Autosomal recessive inheritance, Blepharitis, Congenital cataract, Decreased circulating low-density lipoprotein levels, Delayed puberty, Delayed skeletal maturation, Failure to thrive, Global developmental delay, Hypocholesterolemia, Ichthyosis, Intellectual disability, mild, Microcephaly, Psoriasiform dermatitis, Short stature
oRG	HSPB1	1.253555486	0	Chaperone	BrainSpLMD|3315	OMIM|602195;HPO|3315|Adult onset, Areflexia, Areflexia of lower limbs, Autosomal dominant inheritance, Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Difficulty walking, Distal amyotrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Distal sensory impairment, EMG: chronic denervation signs, EMG: neuropathic changes, Fasciculations, Foot dorsiflexor weakness, Heterogeneous, Hyporeflexia, Hyporeflexia of lower limbs, Impaired pain sensation, Impaired temperature sensation, Limb fasciculations, Lower limb muscle weakness, Muscle cramps, Paresis of extensor muscles of the big toe, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Reduced tendon reflexes, Slow progression, Split hand, Steppage gait, Talipes equinovarus, Ulnar claw, Upper limb amyotrophy
oRG	SPAG16	1.246626717	0	Unclassified	BrainSpLMD|79582	OMIM|612173
oRG	SOX2	1.245808498	0	Transcription factor	Eurexp|euxassay_019525|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lung, mantle layer, medulla, midgut, neural retina, oesophagus, olfactory, oral epithelium, pituitary, saccule, stomach, testis, trachea, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|20436	OMIM|184429;COSMIC||NSCLC, oesophageal squamous carcinoma, Microphthalmia and oesophageal atresia syndrome;HPO|6657|Agenesis of corpus callosum, Anophthalmia, Anterior pituitary hypoplasia, Autosomal dominant inheritance, Butterfly vertebrae, Cleft palate, Coloboma, Cryptorchidism, Esophageal atresia, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hemivertebrae, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypospadias, Hypothalamic hamartoma, Microcephaly, Micropenis, Microphthalmia, Missing ribs, Nystagmus, Optic nerve hypoplasia, Patent ductus arteriosus, Postnatal growth retardation, Rib fusion, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Short stature, Spastic diplegia, Spastic tetraplegia, Specific learning disability, Strabismus, Supernumerary ribs, Tracheoesophageal fistula, Ventricular septal defect, Vertebral fusion, Vertebral hypoplasia, Visual impairment, Visual loss
oRG	CARHSP1	1.241754016	0	Calcium binding protein	BrainSpLMD|23589	OMIM|616885
oRG	C1orf61	1.238787894	0	Transcription regulatory protein	BrainSpLMD|10485	
oRG	COL11A1	1.232240321	0	Extracellular matrix protein	BrainSpLMD|1301;Eurexp|euxassay_004200|axial skeleton, clavicle, cranium, femur, fibula, footplate, handplate, humerus, hyoid bone, mandible, nasal septum, otic capsule, palatal shelf, pelvic girdle, radius, rib, sternum, tibia, turbinate bones, ulna;BrainSpMouseDev|12597	OMIM|120280;HPO|1301|Abnormal diaphysis morphology, Abnormal form of the vertebral bodies, Abnormality of the dentition, Abnormality of the metaphysis, Abnormality of the pinna, Abnormality of the vitreous humor, Absent frontal sinuses, Amblyopia, Anterior rib cupping, Anteverted nares, Arachnodactyly, Arthralgia, Arthropathy, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bifid uvula, Brachycephaly, Brachydactyly, Broad ischia, Broad long bones, Broad ribs, Calcification of falx cerebri, Camptodactyly, Cataract, Cerebral calcification, Cleft palate, Clinodactyly of the 5th finger, Congenital cataract, Corneal opacity, Coxa valga, Depressed nasal bridge, Downslanted palpebral fissures, Dumbbell-shaped long bone, Ectopia lentis, Epicanthus, Epiphyseal dysplasia, Esotropia, Femoral bowing, Fibular hypoplasia, Flat face, Frontal bossing, Genu valgum, Glaucoma, Glossoptosis, Hearing abnormality, Hydrops fetalis, Hypertelorism, Hypohidrosis, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hypoplastic fingernail, Hypoplastic frontal sinuses, Hypoplastic ilia, Hypoplastic ischia, Hypoplastic scapulae, Hypoplastic toenails, Hypotrichosis, Irregular distal femoral epiphysis, Irregular proximal tibial epiphyses, Irregular vertebral endplates, Joint contracture of the hand, Joint hyperflexibility, Joint hypermobility, Lens luxation, Long clavicles, Long fingers, Long philtrum, Low-set ears, Macrodontia of permanent maxillary central incisor, Malar flattening, Megalocornea, Meningeal calcification, Micrognathia, Micromelia, Midface retrusion, Myopia, Narrow chest, Narrow greater sacrosciatic notches, Narrow mouth, Omphalocele, Osteoarthritis, Patent foramen ovale, Pierre-Robin sequence, Platyspondyly, Posterior rib cupping, Posterior vertebral hypoplasia, Premature birth, Proptosis, Protuberant abdomen, Radial bowing, Respiratory insufficiency, Retinal detachment, Retinopathy, Rhizomelia, Round face, Sensorineural hearing impairment, Severe Myopia, Short femur, Short foot, Short long bone, Short neck, Short nose, Short palm, Short ribs, Short stature, Small distal femoral epiphysis, Small hand, Small proximal tibial epiphyses, Spondyloepiphyseal dysplasia, Stillbirth, Thick lower lip vermilion, Thick upper lip vermilion, Thickened calvaria, Thin clavicles, Thin ribs, Thoracic hypoplasia, Ulnar bowing, Upper airway obstruction, Visual impairment, Vitreoretinal degeneration, Wide anterior fontanel, Wide nasal bridge, Wide tufts of distal phalanges, Widely patent coronal suture, Widely patent sagittal suture
oRG	WDR41	1.227510606	0	Unclassified	BrainSpLMD|55255	OMIM|617502
oRG	MSI2	1.219611778	0	RNA binding protein	BrainSpLMD|124540	OMIM|607897;COSMIC||CML
oRG	ETV1	1.216240685	0	Transcription factor	BrainSpLMD|2115;BrainSpMouseDev|13786	OMIM|600541;COSMIC||Ewing sarcoma, prostate
oRG	PPM1K	1.204389978	0	Serine/threonine phosphatase	BrainSpLMD|152926	OMIM|611065;HPO|152926|Elevated plasma branched chain amino acids
oRG	RAB3GAP2	1.202626358	0	GTPase activating protein	BrainSpLMD|25782	OMIM|609275;HPO|25782|Abnormal dermatoglyphics, Abnormal toenail morphology, Abnormality of retinal pigmentation, Abnormality of the distal phalanx of finger, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Asymmetry of the ears, Autosomal recessive inheritance, Brachycephaly, Broad fingertip, Broad nasal tip, Cardiomyopathy, Cataract, Cerebral cortical atrophy, Clitoral hypoplasia, Congenital cataract, Congestive heart failure, Cortical visual impairment, Cryptorchidism, Delayed puberty, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, Feeding difficulties in infancy, Flexion contracture, Furrowed tongue, Generalized hirsutism, Global brain atrophy, Global developmental delay, High palate, Hyperlordosis, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypotelorism, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphosis, Lissencephaly, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Macrotia, Malar flattening, Metatarsus adductus, Microcephaly, Microcornea, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Misalignment of teeth, Muscular hypotonia, Muscular hypotonia of the trunk, Optic atrophy, Overlapping toe, Pachygyria, Pectus carinatum, Pectus excavatum, Polymicrogyria, Posteriorly rotated ears, Postnatal growth retardation, Postnatal microcephaly, Prematurely aged appearance, Prominent antitragus, Prominent nasal bridge, Prominent nipples, Recurrent respiratory infections, Scoliosis, Scrotal hypoplasia, Severe global developmental delay, Short metacarpal, Short nose, Short palm, Short phalanx of finger, Short philtrum, Short stature, Short toe, Slender ulna, Spasticity, Talipes equinovarus, Talipes valgus, Tracheomalacia, Ulnar deviation of finger, Undetectable visual evoked potentials, Wide nasal bridge
oRG	PLEKHG1	1.194962622	0	Unclassified	BrainSpMouseDev|84601	
oRG	GPR56	1.181213784	0			
oRG	SCRN1	1.178465216	0	Protease	BrainSpLMD|9805;Eurexp|euxassay_012592|cervical, cervico-thoracic, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, penis, thoracic, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII	OMIM|614965
oRG	MRC2	1.176720827	0	Cell surface receptor	BrainSpLMD|9902;Eurexp|euxassay_009360|mandible, maxilla, meninges, mesenchyme, temporal bone	OMIM|612264
oRG	FOS	1.165267427	0	Transcription factor	BrainSpLMD|2353;Eurexp|euxassay_012634|mandible, maxilla;BrainSpMouseDev|14058	OMIM|164810;HPO|2353|Abnormality of skin pigmentation, Acanthosis nigricans, Accelerated skeletal maturation, Bone cyst, Broad foot, Diabetes mellitus, Generalized hirsutism, Growth hormone excess, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hyperinsulinemia, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Insulin resistance, Intellectual disability, Large hands, Lipoatrophy, Mandibular prognathia, Precocious puberty, Prominent supraorbital ridges, Skeletal muscle hypertrophy
oRG	MYO10	1.16399947	0	Motor protein	BrainSpLMD|4651;Eurexp|euxassay_009373|mantle layer, marginal layer, thymus primordium, trigeminal V, ventricular layer	OMIM|601481
oRG	MYO6	1.147466463	0	Motor protein	BrainSpLMD|4646	OMIM|600970;HPO|4646|Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment
oRG	SLC35F1	1.133829971	0	Integral membrane protein	Eurexp|euxassay_019705|dorsal root ganglion, embryo, glossopharyngeal IX, intermediate grey horn, mantle layer, rest of cerebellum, trigeminal V, ventral grey horn, ventricular layer	
oRG	MGST3	1.124444595	0	Enzyme: Glutathione transferase	BrainSpLMD|4259;Eurexp|euxassay_015092|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, neural retina, olfactory, spinal cord, stomach, stroma, thoracic, trigeminal V, urethra, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42290	OMIM|604564
oRG	LGALS1	1.112983179	0	Ligand	BrainSpLMD|3956;Eurexp|euxassay_004032|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|16623	OMIM|150570
oRG	EZR	1.104022096	0	Anchor protein	BrainSpLMD|7430;Eurexp|euxassay_018306|axial skeleton, calyces, choroid plexus, cochlea, dorsal root ganglion, epidermis, epithelium, fundus region, hindgut, incisor, larynx, lens, lobe, lung, marginal layer, midgut, molar, oesophagus, oral epithelium, pelvis, penis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, rib, saccule, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricle, ventricular layer, vibrissa	OMIM|123900;COSMIC||NSCLC
oRG	SYT11	1.099000181	0	Calcium binding protein	BrainSpLMD|23208	OMIM|608741
oRG	PHLDA1	1.057010187	0	Transcription factor	BrainSpLMD|22822;Eurexp|euxassay_008411|anterior, axial skeleton, bladder, cartilaginous ring, cornea, diaphragm, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, hepatic duct, hindgut, incisor, inner ear, left lung, liver, mantle layer, medulla, meninges, metanephros, midgut, molar, naso-lacrimal duct, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, right lung, skeletal muscle, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, tongue, trigeminal V, ureter, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|605335
oRG	AAED1	1.052381227	0	Unclassified		
oRG	ALDH6A1	1.040782753	0	Enzyme: Dehydrogenase	BrainSpLMD|4329;Eurexp|euxassay_018815|choroid invagination, naris, nasal septum, otic capsule, turbinate bones, ventricular layer	OMIM|603178;HPO|4329|Abnormal facial shape, Autosomal recessive inheritance, Bulbous nose, Cataract, Delayed myelination, Depressed nasal bridge, Downslanted palpebral fissures, Dystonia, Epicanthus, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Long philtrum, Metabolic acidosis, Microcephaly, Microphthalmia, Muscular hypotonia, Phenotypic variability, Short nose, Tented upper lip vermilion
oRG	TMBIM6	1.040271959	0	Integral membrane protein	BrainSpLMD|7009	OMIM|600748
oRG	SRI	1.035097339	0	Calcium binding protein	BrainSpLMD|6717	OMIM|182520
oRG	PAG1	1.034059419	0	Adapter molecule	BrainSpLMD|55824	OMIM|605767
oRG	SNX5	1.031621691	0	Transport/cargo protein	BrainSpLMD|27131;Eurexp|euxassay_011463|clavicle, cortex, epithelium, exoccipital bone, floor plate, fundus region, hindgut, incisor, lobe, lung, mandible, marginal layer, maxilla, midgut, molar, naris, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, roof, stomach, submandibular gland primordium, temporal bone, thymus primordium, thyroid, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|605937
oRG	B2M	1.018240953	0	MHC complex protein	BrainSpLMD|567	OMIM|109700;COSMIC||DLBCL, melanoma, colorectal adenocarcinoma, Immunodeficiency 43;HPO|567|Autonomic bladder dysfunction, Autonomic dysregulation, Autosomal dominant inheritance, Autosomal recessive inheritance, Bowel incontinence, Bronchiectasis, Cholestasis, Chronic constipation, Chronic diarrhea, Edema, Gastrointestinal dysmotility, Gastrointestinal hemorrhage, Generalized amyloid deposition, Hematuria, Hepatomegaly, Hypertension, Hypoalbuminemia, Hypoplasia of the ulna, Hypoproteinemia, IgG deficiency, Intermittent diarrhea, Keratoconjunctivitis sicca, Malabsorption, Nephropathy, Nephrotic syndrome, Orthostatic hypotension due to autonomic dysfunction, Proteinuria, Radial bowing, Recurrent respiratory infections, Skin rash, Splenomegaly, Variable expressivity, Vertigo, Weight loss, Xerostomia
oRG	ANXA5	1.005324637	0	Calcium binding protein	BrainSpLMD|308;Eurexp|euxassay_002158|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, meninges, renal/urinary system, reproductive system, respiratory system, tail	OMIM|131230
oRG	TOB2	1.002613098	0	Cell cycle control protein	BrainSpLMD|10766;Eurexp|euxassay_002023|Meckel's cartilage, orbito-sphenoid	OMIM|607396
oRG	ZFHX4	1.000636343	0	Transcription factor	BrainSpLMD|79776;Eurexp|euxassay_005820|epidermis, mantle layer, nasal septum, urethra;BrainSpMouseDev|56662	OMIM|606940;HPO|79776|Autosomal dominant inheritance, Congenital ptosis
oRG	SDCBP	0.996922258	0	Adapter molecule	BrainSpLMD|6386;Eurexp|euxassay_008333|naris, olfactory, respiratory	OMIM|602217
oRG	ARHGAP5	0.985072672	0	GTPase activating protein	BrainSpLMD|394	OMIM|602680;COSMIC||colon cancer, glioma
oRG	MT2A	0.981112046	0	Unclassified	Eurexp|euxassay_004529|left, oesophagus, pancreas, pharyngo-tympanic tube, right, stomach, submandibular gland primordium, thyroid, vibrissa	OMIM|156360
oRG	FKBP10	0.979926615	0	Unclassified	BrainSpLMD|60681	OMIM|607063;HPO|60681|Abnormality of the skin, Ankle contracture, Aplasia/Hypoplasia of the patella, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Biconcave vertebral bodies, Blue sclerae, Brachycephaly, Coxa vara, Dentinogenesis imperfecta, Elbow flexion contracture, Elevated alkaline phosphatase, Gait disturbance, Hip contracture, Increased susceptibility to fractures, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Protrusio acetabuli, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes, Talipes equinovarus, Triangular face, Vertebral compression fractures, Vertebral wedging, Wormian bones
oRG	FAM114A1	0.970371495	0	Unclassified	BrainSpLMD|92689;Eurexp|euxassay_002429|Meckel's cartilage, cranium	
oRG	LPCAT1	0.970004428	0	Enzyme: Acyltransferase	BrainSpLMD|79888	OMIM|610472
oRG	HMGN3	0.9663945	0	DNA binding protein	BrainSpLMD|9324;Eurexp|euxassay_010528|lens, olfactory;BrainSpMouseDev|60980	OMIM|604502
oRG	PSAP	0.963906886	0	Integral membrane protein	BrainSpLMD|5660	OMIM|176801;HPO|5660|Abnormality of eye movement, Abnormality of glycosphingolipid metabolism, Abnormality of the periventricular white matter, Anemia, Autosomal recessive inheritance, Babinski sign, CNS demyelination, Central apnea, Cerebral dysmyelination, Congenital onset, Death in childhood, Death in infancy, Decreased nerve conduction velocity, Developmental regression, Dysarthria, Dysphagia, Dystonia, Erlenmeyer flask deformity of the femurs, Fasciculations, Feeding difficulties, Gait ataxia, Generalized clonic seizures, Generalized hypotonia, Generalized tonic-clonic seizures, Global brain atrophy, Global developmental delay, Hepatomegaly, Hepatosplenomegaly, Hyperkinesis, Hyperreflexia, Hypertonia, Hypoplasia of the corpus callosum, Hyporeflexia, Increased CSF protein, Increased cerebral lipofuscin, Infantile onset, Loss of speech, Mental deterioration, Muscle weakness, Muscular hypotonia, Myoclonus, Neuronal loss in central nervous system, Osteopenia, Peripheral demyelination, Polyneuropathy, Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Seizures, Spastic tetraparesis, Splenomegaly, Thrombocytopenia, Urinary incontinence, Variable expressivity
oRG	ROBO1	0.962994247	0	Adhesion molecule	BrainSpLMD|6091;Eurexp|euxassay_009691|adrenal gland, extrinsic ocular muscle, incisor, lip, mandible, mantle layer, metanephros, metatarsus, midgut, molar, nasal septum, palatal shelf, penis, phalanx, tarsus, turbinate bones, ventral grey horn, vibrissa;BrainSpMouseDev|19639	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602430
oRG	TFPI	0.92722828	0	Protease inhibitor	BrainSpLMD|7035;Eurexp|euxassay_012616|meninges	OMIM|152310
oRG	GNG5	0.925998031	0	G protein	BrainSpLMD|2787;Eurexp|euxassay_007798|embryo	OMIM|600874
oRG	LRRC16A	0.914381014	0			
oRG	PSPH	0.909335862	0	Serine/threonine phosphatase	BrainSpLMD|5723;Eurexp|euxassay_007810|calyces, left, right, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|172480;HPO|5723|Autosomal recessive inheritance, Global developmental delay, Hypertonia, Infantile onset, Intellectual disability, Intrauterine growth retardation, Postnatal growth retardation, Seizures
oRG	ILK	0.903194587	0	Serine/threonine kinase	BrainSpLMD|3611	OMIM|602366
oRG	IGDCC4	0.876046014	0	Cell surface receptor	BrainSpLMD|57722;Eurexp|euxassay_007736|diaphragm, footplate, handplate, mantle layer, mesenchyme, oesophagus, rest of mesenchyme, skeletal muscle, tongue, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|616810
oRG	TMEM170A	0.865074568	0	Unclassified	BrainSpLMD|124491	
oRG	ZIC2	0.858536624	0	Transcription regulatory protein	BrainSpLMD|7546;BrainSpMouseDev|22529	OMIM|603073;HPO|7546|Abnormal facial shape, Autosomal dominant inheritance, Global developmental delay, Holoprosencephaly, Hydrocephalus, Intellectual disability, Microcephaly, Synophrys, Trigonocephaly
oRG	ANXA2	0.82153505	0	Calcium binding protein	BrainSpLMD|302;Eurexp|euxassay_013682|basal plate, mantle layer, ventral grey horn;BrainSpMouseDev|12091	OMIM|151740
oRG	CD63	0.820053283	0	Integral membrane protein	BrainSpLMD|967	OMIM|155740
oRG	ENO1	0.797183073	0	Enzyme: Hydratase	BrainSpLMD|2023	OMIM|172430
oRG	7-Sep	0.796970289	0			
oRG	CRIM1	0.79513584	0	Integral membrane protein	BrainSpLMD|51232;Eurexp|euxassay_014038|lens, mantle layer, physiological umbilical hernia, ventral grey horn, vibrissa	OMIM|606189
oRG	ANXA2P2	0.776322634	0		BrainSpLMD|304	
oRG	APC	0.766660096	0	Adhesion molecule	BrainSpLMD|324;Eurexp|euxassay_007660|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|11576	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611731;COSMIC||colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS, colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS;HPO|324|Abdominal pain, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Adenomatous colonic polyposis, Adrenocortical carcinoma, Astrocytoma, Autosomal dominant inheritance, Colon cancer, Desmoid tumors, Epidermoid cyst, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hyperpigmentation of the skin, Intestinal polyposis, Keloids, Malabsorption, Micronodular cirrhosis, Multiple gastric polyps, Multiple lipomas, Myalgia, Neoplasm of the stomach, Odontoma, Renal cell carcinoma, Small intestine carcinoid, Somatic mutation, Stomach cancer, Subacute progressive viral hepatitis, Subcutaneous nodule, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Variable expressivity
oRG	QKI	0.73523454	0	RNA binding protein	BrainSpLMD|9444;Eurexp|euxassay_012259|diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, lens, lung, mandible, mantle layer, marginal layer, maxilla, meninges, midgut, neural retina, orbito-sphenoid, petrous part, skeletal muscle, stomach, submandibular gland primordium, turbinate, vault of skull, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|609590;COSMIC||angiocentric glioma, colorectal cancer
oRG	MOB3B	0.725277064	0	Unclassified	BrainSpLMD|79817;Eurexp|euxassay_011555|incisor, molar	OMIM|617652
oRG	TPI1	0.689924434	0	Enzyme: Isomerase	BrainSpLMD|7167	OMIM|190450;HPO|7167|Abnormality of immune system physiology, Autosomal recessive inheritance, Central nervous system degeneration, Cholecystitis, Cholelithiasis, Chronic hemolytic anemia, Congestive heart failure, Diaphragmatic paralysis, Dystonia, Generalized hypotonia, Global developmental delay, Hemolytic anemia, Hyporeflexia, Jaundice, Kyphosis, Muscular hypotonia, Myopathy, Normochromic anemia, Normocytic anemia, Peripheral neuropathy, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Splenomegaly, Tremor, Unsteady gait
oRG	RNU2.1	0.68468129	0			
oRG	NFIA	0.610973281	0	Transcription factor	BrainSpLMD|4774;BrainSpMouseDev|17794	SFARI||Autism, 4 - Minimal evidence;OMIM|600727;HPO|4774|Agenesis of corpus callosum, Anteverted nares, Arnold-Chiari type I malformation, Broad face, Broad forehead, Cognitive impairment, Cutis marmorata, Generalized hypotonia, Global developmental delay, Hydronephrosis, Hypoplasia of the corpus callosum, Inguinal hernia, Intellectual disability, Low-set ears, Macrocephaly, Narrow mouth, Phenotypic variability, Renal hypoplasia, Seizures, Short chin, Short nose, Sporadic, Syringomyelia, Thin upper lip vermilion, Ventriculomegaly, Vesicoureteral reflux
oRG	CH17.449C21.1	0.439868948	0			
oRG	LRRTM3	1.927402569	1.11E-16	Integral membrane protein	BrainSpLMD|347731;Eurexp|euxassay_006601|lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, midgut, palatal shelf, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|610869
oRG	GDPD2	1.788792996	1.11E-16	Enzyme: Phosphodiesterase;Integral membrane protein	BrainSpLMD|54857	OMIM|300940
oRG	PHGDH	1.556850498	1.11E-16	Enzyme: Dehydrogenase	BrainSpLMD|26227	OMIM|606879;HPO|26227|Ablepharon, Abnormality of the philtrum, Absent eyelashes, Absent septum pellucidum, Adducted thumb, Agenesis of corpus callosum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Bifid uterus, Broad foot, Calcaneovalgus deformity, Camptodactyly, Cataract, Cerebellar hypoplasia, Cerebral dysmyelination, Choroid plexus cyst, Cleft palate, Cleft upper lip, Clinodactyly, Congenital cataract, Congenital microcephaly, Cryptorchidism, Dandy-Walker malformation, Decreased fetal movement, Decreased testicular size, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Finger syndactyly, Generalized edema, Growth delay, Hydranencephaly, Hypertelorism, Hypogonadism, Hypsarrhythmia, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Lack of skin elasticity, Large hands, Lissencephaly, Macrogyria, Macrotia, Megaloblastic anemia, Microcephaly, Micrognathia, Micromelia, Microphthalmia, Muscle cramps, Muscular dystrophy, Nystagmus, Opisthotonus, Pachygyria, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Polymicrogyria, Proptosis, Pterygium, Pulmonary hypoplasia, Radial deviation of finger, Renal agenesis, Rocker bottom foot, Seizures, Short neck, Short umbilical cord, Skeletal muscle atrophy, Sloping forehead, Small placenta, Spastic tetraplegia, Spina bifida, Stillbirth, Thick lower lip vermilion, Thick vermilion border, Thrombocytopenia, Toe syndactyly, Transposition of the great arteries, Trismus, Ventricular septal defect, Yellow subcutaneous tissue covered by thin, scaly skin
oRG	SLC2A3	1.477826112	1.11E-16	Membrane transport protein	BrainSpLMD|6515	OMIM|138170;HPO|6515|Abnormality of movement, Abnormality of the voice, Behavioral abnormality, Cerebral cortical atrophy, Dementia, Developmental regression, EEG abnormality, Spasticity
oRG	TMEM47	1.225264138	1.11E-16	Integral membrane protein	BrainSpLMD|83604;Eurexp|euxassay_008336|ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|300698
oRG	MAGT1	1.20634348	1.11E-16	Unclassified	BrainSpLMD|84061	OMIM|300715;HPO|84061|Decreased T cell activation, Decreased number of CD4+ T cells, Immunodeficiency, Lymphoma, Recurrent viral infections, X-linked inheritance
oRG	NDRG4	1.086018783	1.11E-16	Enzyme: Hydrolase;Cell cycle control protein	BrainSpLMD|65009;Eurexp|euxassay_015917|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mantle layer, neural retina, trigeminal V, ventral grey horn, vestibulocochlear VIII	OMIM|614463
oRG	EGR1	1.049818496	1.11E-16	Transcription factor	BrainSpLMD|1958;Eurexp|euxassay_008911|mesenchyme;BrainSpMouseDev|13431	OMIM|128990
oRG	AASS	1.000359159	1.11E-16	Enzyme: Oxidoreductase;Enzyme: Synthase	BrainSpLMD|10157	OMIM|605113;HPO|10157|Abnormality of the genitourinary system, Anemia, Autosomal recessive inheritance, Cognitive impairment, Delayed speech and language development, EEG abnormality, Ectopia lentis, Histidinuria, Hyperactivity, Hyperlysinemia, Hyperlysinuria, Infantile onset, Intellectual disability, Intellectual disability, mild, Muscular hypotonia, Phenotypic variability, Seizures, Short attention span, Short stature, Spastic diplegia
oRG	KLF6	0.946015062	1.11E-16	Transcription factor	BrainSpLMD|1316;Eurexp|euxassay_018886|mantle layer, marginal layer;BrainSpMouseDev|23602	OMIM|602053;COSMIC||prostate, glioma;HPO|1316|Autosomal dominant inheritance, Prostate cancer, Somatic mutation, Stomach cancer
oRG	FOSB	0.900833761	1.11E-16	Transcription factor	BrainSpLMD|2354	OMIM|164772
oRG	ACAT2	0.818768168	1.11E-16	Enzyme: Acyltransferase	BrainSpLMD|39;Eurexp|euxassay_010142|brain, cervical, cervico-thoracic, chondrocranium, dorsal root ganglion, facial VII, foregut-midgut junction, glomeruli, glossopharyngeal IX, head mesenchyme, hindgut, incisor, left lung, liver, lobe, marginal layer, mesenchyme, metanephros, midgut, neural retina, right lung, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|100678;HPO|39|Chorea, Generalized hypotonia, Global developmental delay, Increased serum lactate, Increased serum pyruvate, Sporadic
oRG	TOB1	0.585512294	1.11E-16	Adapter molecule	BrainSpLMD|10140	OMIM|605523
oRG	GOLIM4	0.374324864	1.11E-16	Integral membrane protein	BrainSpLMD|27333	OMIM|606805
oRG	SLC25A18	2.469299402	2.22E-16	Membrane transport protein	BrainSpLMD|83733	OMIM|609303
oRG	KAZN	1.428234255	2.22E-16	Unclassified	BrainSpLMD|23254	
oRG	CTNNA1	1.105843793	2.22E-16	Cytoskeletal protein	BrainSpLMD|1495;Eurexp|euxassay_018188|embryo	OMIM|116805;HPO|1495|Autosomal dominant inheritance
oRG	TSPAN3	0.917498976	2.22E-16	Integral membrane protein	BrainSpLMD|10099;Eurexp|euxassay_011791|axial skeleton, basioccipital bone, basisphenoid bone, naris, nasal septum, orbito-sphenoid, otic capsule, petrous part, rib, turbinate bones	OMIM|613134
oRG	CYP51A1P1	0.852640515	2.22E-16			
oRG	DDR1	0.775868141	2.22E-16	Receptor tyrosine kinase	BrainSpLMD|780;BrainSpMouseDev|12090	OMIM|600408
oRG	CD82	2.782519207	3.33E-16	Integral membrane protein;Cell surface receptor	BrainSpLMD|3732;Eurexp|euxassay_011073|choroid plexus, footplate, lobe, meninges, mesenchyme, olfactory, rest of mesenchyme, skeletal muscle, thymus primordium, vertebral axis muscle system	OMIM|600623
oRG	GRB14	1.103725576	3.33E-16	Adapter molecule	BrainSpLMD|2888;Eurexp|euxassay_012213|dorsal root ganglion, mantle layer, nucleus pulposus, trigeminal V	OMIM|601524
oRG	TSPAN6	1.082114539	3.33E-16	Cell surface receptor	BrainSpLMD|7105;Eurexp|euxassay_004870|incisor, mandible, maxilla, molar	OMIM|300191
oRG	IFITM3	1.127075506	4.44E-16	Integral membrane protein	BrainSpLMD|10410;Eurexp|euxassay_004558|pancreas, submandibular gland primordium, thymus primordium	OMIM|605579
oRG	SCRG1	0.991756629	4.44E-16	Unclassified	BrainSpLMD|11341;Eurexp|euxassay_007430|axial skeleton, glossopharyngeal IX, left lung, metatarsus, nasal septum, oesophagus, orbito-sphenoid, phalanx, right lung, sternum, temporal bone, trigeminal V, turbinate	OMIM|603163
oRG	EFNB2	0.980699951	4.44E-16	Membrane bound ligand	BrainSpLMD|1948;Eurexp|euxassay_018950|bladder, incisor, lung, mantle layer, mesenchyme, metanephros, molar, oesophagus, pericardium, submandibular gland primordium, urethra, ventricular layer, vibrissa;BrainSpMouseDev|13420	OMIM|600527
oRG	RHOA	0.463862128	4.44E-16	GTPase	BrainSpLMD|387;BrainSpMouseDev|11635	OMIM|165390;COSMIC||diffuse gastric, T cell lymphomas, paediatric Burkitt lymphoma
oRG	LHX2	0.863579623	5.55E-16	Transcription regulatory protein	BrainSpLMD|9355;BrainSpMouseDev|16641	OMIM|603759
oRG	LYN	2.471699446	6.66E-16	Tyrosine kinase	BrainSpLMD|4067	OMIM|165120
oRG	HS6ST2	1.501237975	6.66E-16	Enzyme: Sulphotransferase	BrainSpLMD|90161;Eurexp|euxassay_014425|mantle layer, metatarsus, phalanx, ventral grey horn	OMIM|300545
oRG	NBPF25P	0.385002074	6.66E-16			
oRG	SH3BGRL	1.192944538	8.88E-16	Unclassified	BrainSpLMD|6451	OMIM|300190
oRG	TSC22D2	0.51928609	8.88E-16	Unclassified	BrainSpLMD|9819	OMIM|617724
oRG	RNVU1.14	1.873826011	9.99E-16			
oRG	HSD17B12	1.183120228	9.99E-16	Enzyme: Dehydrogenase	BrainSpLMD|51144	OMIM|609574
oRG	HIGD1A	0.948306428	9.99E-16	Integral membrane protein		
oRG	TMX1	0.787258896	9.99E-16	Enzyme: Oxidoreductase	BrainSpLMD|81542	OMIM|610527
oRG	DENND1A	1.479897546	1.33E-15	Unclassified	BrainSpLMD|57706	OMIM|613633
oRG	CROT	1.642486228	1.44E-15	Enzyme: Acyltransferase	BrainSpLMD|54677	OMIM|606090
oRG	CSPG5	1.141557727	1.67E-15	Integral membrane protein	BrainSpLMD|10675	OMIM|606775
oRG	CLDND1	0.809976652	1.67E-15	Unclassified	BrainSpLMD|56650;Eurexp|euxassay_006238|embryo	
oRG	11-Sep	0.726089854	1.78E-15			
oRG	MYL6	0.368728426	1.78E-15	Cytoskeletal protein	BrainSpLMD|4637	OMIM|609931
oRG	RNF213	1.215512319	1.89E-15	Unclassified	BrainSpLMD|57674	OMIM|613768;COSMIC||ALCL;HPO|57674|Abnormality of the cerebral vasculature, Intellectual disability, Seizures, Telangiectasia, Ventriculomegaly
oRG	NEAT1	0.721216247	1.89E-15			OMIM|612769
oRG	LINC00674	0.825596863	2.00E-15			
oRG	CHP1	0.614973371	2.00E-15		BrainSpLMD|11261	OMIM|606988
oRG	PARD3B	1.839811512	2.11E-15	Unclassified	BrainSpLMD|117583;Eurexp|euxassay_009412|olfactory, ventricular layer, vomeronasal organ	SFARI||Autism, 3 - Suggestive evidence
oRG	OLFM2	0.893339536	2.11E-15	Unclassified	BrainSpLMD|93145;Eurexp|euxassay_002510|brain, glossopharyngeal IX, neural retina, orbito-sphenoid, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|617492
oRG	AIF1L	1.238851496	2.33E-15	Calcium binding protein	BrainSpLMD|83543;Eurexp|euxassay_002250|basisphenoid bone, orbito-sphenoid, turbinate, ventricular layer	
oRG	DACH1	0.960919571	2.44E-15	Transcription regulatory protein	BrainSpLMD|1602;Eurexp|euxassay_012739|associated mesenchyme, bladder, calyces, cortex, dermis, dorsal root ganglion, facial VII, left lung, mantle layer, meninges, midgut, olfactory, oral region, pelvis, penis, retina, right lung, stomach, thymus primordium, trigeminal V, ureter, urethra, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|12914	OMIM|603803
oRG	ABAT	0.787148744	2.44E-15	Enzyme: Aminotransferase	BrainSpLMD|18;Eurexp|euxassay_001907|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, thymus primordium, trigeminal V, ventricular layer;BrainSpMouseDev|92603	SFARI||Autism, 4 - Minimal evidence;OMIM|137150;HPO|18|Agenesis of corpus callosum, Autosomal recessive inheritance, Cerebellar hypoplasia, Death in childhood, Downslanted palpebral fissures, Global developmental delay, High-pitched cry, Hyperreflexia, Lethargy, Leukodystrophy, Posterior fossa cyst, Retrognathia, Seizures, Severe muscular hypotonia, Tall stature
oRG	HSPA1B	0.855007823	2.55E-15	Chaperone	BrainSpLMD|3304	OMIM|603012
oRG	ZMAT3	1.938904772	2.66E-15	DNA binding protein	BrainSpLMD|64393	OMIM|606452
oRG	RP3.418C23.2	1.395218263	2.66E-15			
oRG	GSTP1	0.698690376	2.78E-15	Enzyme: Glutathione transferase	BrainSpLMD|2950;Eurexp|euxassay_006221|lobe	OMIM|134660
oRG	ETV5	1.566749578	2.89E-15	Transcription regulatory protein	BrainSpLMD|2119;Eurexp|euxassay_000518|calyces, cranium, incisor, lung, otic capsule, submandibular gland primordium, testis, turbinate bones, ventricular layer;BrainSpMouseDev|68321	OMIM|601600;COSMIC||prostate
oRG	MYO1E	1.416035816	3.00E-15	Motor protein	BrainSpLMD|4643	OMIM|601479;HPO|4643|Autosomal recessive inheritance, Chronic kidney disease, Edema, Focal segmental glomerulosclerosis, Hematuria, Hypoalbuminemia, Nephrotic syndrome, Progressive, Proteinuria, Tubular atrophy
oRG	CHRDL1	1.359610293	3.22E-15	Secreted polypeptide	BrainSpLMD|91851	OMIM|300350
oRG	RP1.104O17.1	1.179591385	3.44E-15			
oRG	FAM213A	0.715771238	3.55E-15	Unclassified	BrainSpLMD|84293;Eurexp|euxassay_008864|bladder, brain, calyces, cervical, cervico-thoracic, cochlea, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, incisor, left lung, liver, lung, midgut, molar, naris, nasal cavity, naso-lacrimal duct, olfactory, pelvis, pharyngo-tympanic tube, rectum, retina, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thoracic, trigeminal V, ureter, utricle, vagus X, vestibulocochlear VIII, vibrissa	OMIM|617165
oRG	CAST	0.791762599	3.89E-15	Protease inhibitor	BrainSpLMD|831	OMIM|114090;HPO|831|Angular cheilitis, Autosomal recessive inheritance, Epidermal acanthosis, Leukonychia, Palmoplantar keratoderma, Scaling skin
oRG	LAMB2	1.437773574	4.00E-15	Extracellular matrix protein	BrainSpLMD|3913	OMIM|150325;HPO|3913|Areflexia, Autosomal recessive inheritance, Blindness, Diffuse mesangial sclerosis, Edema, Generalized hypotonia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Hypoproteinemia, Myopia, Neonatal onset, Nephrotic syndrome, Nystagmus, Posterior lenticonus, Proteinuria, Stage 5 chronic kidney disease, Strabismus
oRG	DNER	0.709980125	4.00E-15	Cell surface receptor	BrainSpLMD|92737;Eurexp|euxassay_003135|axial skeleton, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, extrinsic ocular muscle, facial VII, foregut-midgut junction, glossopharyngeal IX, head mesenchyme, hindbrain, hindgut, limb, mantle layer, marginal layer, mesenchyme, midbrain, midgut, neural retina, nucleus pulposus, olfactory, penis, skeletal muscle, spinal cord, stomach, stroma, tail, thoracic, tongue, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|86552	SFARI||Autism, 4 - Minimal evidence;OMIM|607299
oRG	STK39	1.21773698	4.11E-15	Serine/threonine kinase	BrainSpLMD|27347	SFARI||Autism, 4 - Minimal evidence;OMIM|607648
oRG	ANKRD20A1	0.972282302	4.33E-15	Unclassified		
oRG	GRIN2A	1.739461508	4.66E-15	Extracellular ligand gated channel	BrainSpLMD|2903;Eurexp|euxassay_016594|extrinsic ocular muscle, mantle layer, mesenchyme, phalanx, skeletal muscle, ventral grey horn;BrainSpMouseDev|14587	SFARI||Autism, 4 - Minimal evidence;OMIM|138253;COSMIC||melanoma, colorectal carcinoma, gastric carcinoma, lung carcinoma, Focal epilepsy and speech disorder with or without mental retardation;HPO|2903|Agnosia, Aphasia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Delayed speech and language development, Dysphasia, EEG with centrotemporal focal spike waves, Incomplete penetrance, Seizures, Speech apraxia, Variable expressivity
oRG	SLC4A4	0.999181424	4.66E-15	Membrane transport protein	BrainSpLMD|8671;Eurexp|euxassay_019682|floor plate, floorplate, ventricular layer	OMIM|603345;HPO|8671|Autosomal recessive inheritance, Band keratopathy, Bicarbonate-wasting renal tubular acidosis, Cataract, Glaucoma, Growth delay, Hyperchloremic acidosis, Increased red cell osmotic resistance, Intellectual disability, Proximal renal tubular acidosis
oRG	NBPF9	0.794996077	4.66E-15	Unclassified		OMIM|613999
oRG	JAM2	0.929213779	4.77E-15	Adhesion molecule	BrainSpLMD|58494	OMIM|606870
oRG	CNP	0.725492678	4.77E-15	Enzyme: Phosphodiesterase	BrainSpLMD|1267;BrainSpMouseDev|12582	OMIM|123830
oRG	STK3	2.313312849	4.88E-15	Serine/threonine kinase	BrainSpLMD|6788	OMIM|605030
oRG	ATP10B	2.792844709	5.44E-15	ATPase	BrainSpLMD|23120	
oRG	PMP2	2.29435694	5.44E-15	Transport/cargo protein	BrainSpLMD|5375	OMIM|170715
oRG	CANX	0.846264975	6.88E-15	Chaperone	BrainSpLMD|821	OMIM|114217
oRG	HERC6	3.034774283	7.11E-15	Ubiquitin proteasome system protein	BrainSpLMD|55008	OMIM|609249
oRG	RP1.104O17.3	1.45539703	7.33E-15			
oRG	VCAN	0.43547135	8.77E-15	Extracellular matrix protein	BrainSpLMD|1462	OMIM|118661;HPO|1462|Autosomal dominant inheritance, Cataract, Chorioretinal atrophy, Glaucoma, Myopia, Optic atrophy, Optically empty vitreous, Peripheral traction retinal detachment, Retinal pigment epithelial atrophy, Visual field defect, Visual loss, Vitreoretinal degeneration
oRG	GLUD1	1.227387569	9.88E-15	Enzyme: Dehydrogenase	BrainSpLMD|2746	OMIM|138130;HPO|2746|Asymptomatic hyperammonemia, Autosomal dominant inheritance, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability
oRG	PHLPP1	0.728670046	1.08E-14	Unclassified	BrainSpLMD|23239;Eurexp|euxassay_010722|ventricular layer	OMIM|609396
oRG	RP11.263K19.4	1.691032663	1.15E-14			
oRG	CTNND2	0.904960488	1.19E-14	Adhesion molecule	BrainSpLMD|1501;Eurexp|euxassay_018872|dorsal root ganglion, facial VII, neural retina, trigeminal V	SFARI||Autism, 2 - Strong candidate;OMIM|604275;COSMIC||prostae adenocarcinoma, GIST;HPO|1501|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
oRG	CYR61	1.229327148	1.27E-14	Extracellular matrix protein	BrainSpLMD|3491;BrainSpMouseDev|15780	OMIM|602369
oRG	KAL1	2.828789311	1.30E-14			
oRG	DMD	0.738054235	1.47E-14	Structural protein	BrainSpLMD|1756;Eurexp|euxassay_010997|incisor, lateral wall, mantle layer, molar, ventricular layer, vibrissa	SFARI||Autism, No category;OMIM|300377;HPO|1756|Abnormal urinary color, Adult onset, Arrhythmia, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Childhood onset, Cognitive impairment, Congestive heart failure, Delayed speech and language development, Difficulty climbing stairs, Difficulty walking, Dilated cardiomyopathy, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Exercise intolerance, Falls, Fatigue, Flexion contracture, Generalized hypotonia, Global developmental delay, Gowers sign, Hyperlordosis, Hyporeflexia, Hypoventilation, Intellectual disability, Intellectual disability, mild, Motor delay, Muscle cramps, Muscle weakness, Muscular dystrophy, Myalgia, Myoglobinuria, Progressive muscle weakness, Proximal muscle weakness, Respiratory failure, Respiratory insufficiency, Scoliosis, Skeletal muscle atrophy, Specific learning disability, Waddling gait, X-linked inheritance, X-linked recessive inheritance
oRG	RCN1	1.423267824	1.53E-14	Calcium binding protein	BrainSpLMD|5954;Eurexp|euxassay_006169|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, peripheral nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|19435	OMIM|602735
oRG	INPP1	1.29900985	1.54E-14	Enzyme: Phosphohydrolase	BrainSpLMD|3628;BrainSpMouseDev|16102	SFARI||Autism, 4 - Minimal evidence;OMIM|147263
oRG	RDX	0.613531251	1.67E-14	Cytoskeletal associated protein	BrainSpLMD|5962	OMIM|179410;HPO|5962|Autosomal recessive inheritance, Infantile onset, Profound sensorineural hearing impairment
oRG	ID2	0.528258631	1.75E-14	Transcription regulatory protein	BrainSpLMD|3398;BrainSpMouseDev|15675	OMIM|600386
oRG	YBX3	1.636037312	1.78E-14	DNA binding protein	BrainSpLMD|8531	OMIM|603437
oRG	CD44	1.776272751	1.79E-14	Cell surface receptor	BrainSpLMD|960;Eurexp|euxassay_011897|axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, orbito-sphenoid, petrous part, scapula, tibia, turbinate;BrainSpMouseDev|12290	SFARI||Autism, 5 - Hypothesized but untested;OMIM|107269
oRG	IRF2BP2	0.534867162	1.84E-14	Transcription regulatory protein	BrainSpLMD|359948	OMIM|615332
oRG	FZD8	1.811934901	1.91E-14	G protein coupled receptor	BrainSpLMD|8325;BrainSpMouseDev|14146	OMIM|606146
oRG	C3orf70	0.643961029	1.92E-14	Unclassified	Eurexp|euxassay_013634|dorsal grey horn, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa	
oRG	FAM219A	1.105263431	1.93E-14	Unclassified	BrainSpLMD|203259	
oRG	LSS	0.827933225	1.98E-14	Enzyme: Mutase	BrainSpLMD|4047;Eurexp|euxassay_017872|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lobe, mandible, mantle layer, molar, neural retina, thoracic, thymus primordium, trigeminal V, ventricular layer, vibrissa	OMIM|600909;HPO|4047|Autosomal recessive inheritance, Congenital cataract, Visual loss
oRG	SOD1	0.800688073	1.98E-14	Enzyme: Superoxide dismutase	BrainSpLMD|6647	SFARI||Autism, No category;OMIM|147450;HPO|6647|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Degeneration of anterior horn cells, Degeneration of the lateral corticospinal tracts, Depressivity, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Heterogeneous, Hyperreflexia, Muscle cramps, Muscle weakness, Neurodegeneration, Pain, Paralysis, Pseudobulbar paralysis, Respiratory failure, Skeletal muscle atrophy, Sleep apnea, Spasticity, Xerostomia
oRG	TMEM98	1.240192122	2.13E-14	Integral membrane protein	BrainSpLMD|26022	OMIM|615949;HPO|26022|Abnormality of the choroid, Autosomal dominant inheritance, Glaucoma, High-grade hypermetropia, Microphthalmia, Strabismus
oRG	SCARA3	1.233702178	2.13E-14	Unclassified;ATPase	BrainSpLMD|51435;Eurexp|euxassay_004188|body-wall mesenchyme, clavicle, cochlea, head mesenchyme, mandible, maxilla, skeleton;BrainSpMouseDev|85488	OMIM|602728
oRG	NR2E1	1.23510453	2.60E-14	Nuclear receptor	BrainSpLMD|7101;Eurexp|euxassay_007190|epidermis, olfactory, retina, ventricular layer;BrainSpMouseDev|21664	OMIM|603849
oRG	BCAP31	0.724186688	2.91E-14	Transport/cargo protein	BrainSpLMD|10134	OMIM|300398;HPO|10134|Abnormal facial shape, Abnormal pyramidal signs, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Cerebral hypomyelination, Dystonia, Failure to thrive, Global developmental delay, Intellectual disability, Intellectual disability, severe, Microcephaly, Sensorineural hearing impairment, Strabismus, Tetraplegia, X-linked recessive inheritance
oRG	NCALD	1.092247824	3.10E-14	Calcium binding protein	BrainSpLMD|83988;Eurexp|euxassay_005524|cervical, cervico-thoracic, dorsal root ganglion, forebrain, hindbrain, midbrain, spinal cord, thoracic, trigeminal V, vagus X, vibrissa	OMIM|606722
oRG	SPATA13	0.89226322	3.26E-14	Unclassified	BrainSpLMD|221178;Eurexp|euxassay_009443|ventricular layer	OMIM|613324
oRG	SNX3	1.12937791	3.47E-14	Transport/cargo protein	BrainSpLMD|8724;Eurexp|euxassay_015289|nucleus pulposus, thymus primordium, ventricular layer	OMIM|605930
oRG	EMP2	1.71171038	3.54E-14	Cell cycle control protein	BrainSpLMD|2013;Eurexp|euxassay_013721|bladder, epithelium, incisor, larynx, left lung, mantle layer, marginal layer, midgut, molar, pharyngo-tympanic tube, rectum, right lung, skeletal muscle, stomach, thymus primordium, trachea, urethra, ventricular layer, vibrissa	OMIM|602334;HPO|2013|Autosomal recessive inheritance, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome
oRG	SLC38A3	1.64921905	3.81E-14	Membrane transport protein	BrainSpLMD|10991;Eurexp|euxassay_019715|brain, lung, pancreas, pericardium, spinal cord	OMIM|604437
oRG	FAM84B	1.453541577	4.63E-14	Unclassified	BrainSpLMD|157638;Eurexp|euxassay_012212|choroid plexus, fundus, marginal layer, metanephros, molar, stomach, submandibular gland primordium, vibrissa	OMIM|609483
oRG	SYPL1	1.189149734	4.73E-14	Integral membrane protein	BrainSpLMD|6856;Eurexp|euxassay_005903|embryo	OMIM|616665
oRG	DHCR7	1.466124137	5.10E-14	Enzyme: Reductase	BrainSpLMD|1717;Eurexp|euxassay_015508|adrenal gland, neural retina, stroma	SFARI||Autism, No category;OMIM|602858;HPO|1717|2-3 toe syndactyly, Abnormal dermatoglyphics, Abnormal lung lobation, Abnormality of dental morphology, Abnormality of the larynx, Abnormality of the metacarpal bones, Aganglionic megacolon, Aggressive behavior, Ambiguous genitalia, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Atrial septal defect, Atrioventricular canal defect, Attention deficit hyperactivity disorder, Autism, Autosomal recessive inheritance, Bicornuate uterus, Bifid scrotum, Biparietal narrowing, Breech presentation, Broad alveolar ridges, Cataract, Cholestatic liver disease, Cleft palate, Clitoral hypertrophy, Coarctation of aorta, Constipation, Cryptorchidism, Cutaneous photosensitivity, Cutis marmorata, Dandy-Walker malformation, Decreased fetal movement, Dental crowding, Depressed nasal bridge, Eczema, Elevated 7-dehydrocholesterol, Epicanthus, Epiphyseal stippling, Excessive daytime somnolence, Facial capillary hemangioma, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Gastrointestinal dysmotility, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hammertoe, Hearing impairment, Hip dislocation, Hip subluxation, Holoprosencephaly, Hydrocephalus, Hydronephrosis, Hyperactivity, Hypertelorism, Hypertonia, Hypocholesterolemia, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Hypospadias, Increased nuchal translucency, Intellectual disability, Intestinal malrotation, Intrauterine growth retardation, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Metatarsus adductus, Microcephaly, Microglossia, Micrognathia, Micromelia, Micropenis, Muscular hypotonia, Narrow forehead, Nystagmus, Overlapping toe, Patent ductus arteriosus, Periventricular gray matter heterotopia, Polyhydramnios, Poor suck, Postaxial foot polydactyly, Postaxial hand polydactyly, Posteriorly rotated ears, Precocious puberty, Premature birth, Proximal placement of thumb, Ptosis, Pulmonary hypoplasia, Pyloric stenosis, Recurrent infections, Recurrent otitis media, Renal agenesis, Renal cyst, Renal hypoplasia, Scrotal hypoplasia, Seizures, Self-injurious behavior, Self-mutilation, Septate vagina, Severe photosensitivity, Short neck, Short stature, Short thumb, Short toe, Sleep-wake cycle disturbance, Strabismus, Talipes calcaneovalgus, Tracheal stenosis, Ureteropelvic junction obstruction, Ventricular septal defect, Ventriculomegaly, Vomiting, Wide intermamillary distance, Wide mouth, Wide nasal bridge
oRG	TNFRSF19	1.858881934	5.12E-14	Cell surface receptor	BrainSpLMD|55504;Eurexp|euxassay_000124|associated mesenchyme, cartilage condensation, cerebral cortex, epithelium, facial bones primordia, frontal bone primordium, heart, incisor, lung, main bronchus, mandible, maxilla, mesenchyme, optic foramen, palatal shelf, perioptic mesenchyme, premaxilla, primary palate, skeletal muscle, skeleton, spleen primordium, submandibular gland primordium, vibrissa	OMIM|606122
oRG	NDRG2	0.807120433	5.44E-14	Enzyme: Hydrolase	BrainSpLMD|57447;Eurexp|euxassay_018237|anterior, choroid plexus, cricoid, dorsal root ganglion, facial VII, femur, glossopharyngeal IX, humerus, mantle layer, naris, nasal septum, otic capsule, phalanx, rectum, rib, sternum, thyroid, trigeminal V, turbinate bones, vagus X, ventricle, ventricular layer, vestibulocochlear VIII	OMIM|605272
oRG	SIPA1L1	1.065654393	5.64E-14	GTPase activating protein	BrainSpLMD|26037	OMIM|617504
oRG	SPECC1	0.609281407	5.80E-14	Unclassified	BrainSpLMD|92521;Eurexp|euxassay_013924|aorta, liver, molar, ventricular layer	OMIM|608793;COSMIC||JMML
oRG	KCNJ10	2.264615312	6.78E-14	Inward rectifier channel	BrainSpLMD|3766;Eurexp|euxassay_011023|ventricular layer	SFARI||Autism, 3 - Suggestive evidence;OMIM|602208;HPO|3766|Abnormality of metabolism/homeostasis, Abnormality of the mitochondrion, Abnormality of the renal tubule, Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cochlear malformation, Compensated hypothyroidism, Congenital sensorineural hearing impairment, Delayed speech and language development, Dysdiadochokinesis, Enlarged vestibular aqueduct, Enuresis, Failure to thrive, Generalized hypotonia, Global developmental delay, Goiter, Hyperaldosteronism, Hypocalciuria, Hypokalemia, Hypokalemic metabolic alkalosis, Hypomagnesemia, Hypoplasia of the cochlea, Hypothyroidism, Increased circulating renin level, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intention tremor, Muscular hypotonia, Polydipsia, Polyuria, Renal potassium wasting, Renal salt wasting, Renal sodium wasting, Salt craving, Seizures, Sensorineural hearing impairment, Thyroid carcinoma, Vestibular dysfunction
oRG	NID1	1.224883196	7.21E-14	Extracellular matrix protein	BrainSpLMD|4811;Eurexp|euxassay_009707|cervical region, diaphragm, dorsal grey horn, extrinsic ocular muscle, lens, maxillary division, meninges, turbinate bones, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|131390
oRG	ABCC9	1.008488175	7.36E-14	Ion channel	BrainSpLMD|10060	OMIM|601439;HPO|10060|Abnormality of the hand, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Anteverted nares, Autosomal dominant inheritance, Bicuspid aortic valve, Blepharophimosis, Broad first metatarsal, Broad hallux, Broad hallux phalanx, Broad ribs, Bulbous nose, Cardiomegaly, Coarse facial features, Congenital hypertrophy of left ventricle, Congenital, generalized hypertrichosis, Coxa valga, Craniofacial hyperostosis, Cuboid-shaped vertebral bodies, Curly eyelashes, Deep plantar creases, Delayed skeletal maturation, Depressed nasal bridge, Dilated cardiomyopathy, Epicanthus, Erlenmeyer flask deformity of the femurs, Everted lower lip vermilion, Furrowed tongue, Generalized hirsutism, Gingival overgrowth, Highly arched eyebrow, Hypertelorism, Hypoplastic ischiopubic rami, Intellectual disability, mild, Joint hyperflexibility, Large for gestational age, Large hands, Large sella turcica, Long eyelashes, Long nose, Long philtrum, Low anterior hairline, Low posterior hairline, Lymphedema, Macrocephaly, Macroglossia, Metaphyseal widening, Micrognathia, Narrow chest, Osteoporosis, Ovoid vertebral bodies, Palpebral edema, Paroxysmal atrial fibrillation, Patent ductus arteriosus, Pericardial effusion, Platyspondyly, Prominent forehead, Prominent supraorbital ridges, Short distal phalanx of finger, Short hallux, Short neck, Skeletal dysplasia, Sloping forehead, Synophrys, Thick eyebrow, Thick lower lip vermilion, Thick nasal alae, Thick upper lip vermilion, Thick vermilion border, Thickened skin, Umbilical hernia, Wide mouth, Wide nasal bridge, Widened posterior fossa
oRG	SCHIP1	0.526961211	7.90E-14	Unclassified	BrainSpLMD|29970;Eurexp|euxassay_012101|aorta, bladder, brain, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, mantle layer, mesenchyme, metanephros, midgut, molar, neural retina, oesophagus, olfactory, pancreas, primitive seminiferous tubules, spinal cord, stomach, submandibular gland primordium, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vomeronasal organ	
oRG	ADK	1.383442408	7.94E-14	Enzyme: Phosphotransferase	BrainSpLMD|132;Eurexp|euxassay_001699|Meckel's cartilage, basisphenoid bone, bladder, cortex, exoccipital bone, foregut-midgut junction, hindgut, lobe, lung, midgut, molar, nucleus pulposus, oesophagus, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, rectum, rib, stomach, submandibular gland primordium, thymus primordium, vault of skull, ventricular layer, vertebra	SFARI||Autism, 4 - Minimal evidence;OMIM|102750;HPO|132|Autosomal recessive inheritance, Cerebral atrophy, Cholestasis, Decreased liver function, Delayed speech and language development, Elevated hepatic transaminases, Failure to thrive, Frontal bossing, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Hypertelorism, Infantile onset, Macrocephaly, Narrow foot, Poor speech, Portal fibrosis, Progressive, Seizures, Skeletal muscle atrophy
oRG	ZEB1	0.599370523	8.50E-14	Transcription factor	BrainSpLMD|6935;Eurexp|euxassay_015398|central nervous system, meninges, vertebral axis muscle system;BrainSpMouseDev|21178	OMIM|189909;COSMIC||CCRCC, melanoma;HPO|6935|Autosomal dominant inheritance, Corneal dystrophy, Corneal guttata
oRG	IDH1	0.941604647	8.89E-14	Enzyme: Dehydrogenase	BrainSpLMD|3417;Eurexp|euxassay_018329|adrenal gland, brain, cervical, cervico-thoracic, clavicle, dorsal root ganglion, glossopharyngeal IX, neural retina, rib, spinal cord, stroma, testis, thoracic, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	OMIM|147700;COSMIC||glioblastoma;HPO|3417|Abnormality of the metaphysis, Bone pain, Exostoses, Hemangiomatosis, Joint stiffness, Micromelia, Multiple enchondromatosis, Osteolysis, Scoliosis, Short stature, Subcutaneous nodule, Venous thrombosis, Visceral angiomatosis
oRG	ENHO	1.216317414	9.10E-14	Unclassified	BrainSpLMD|375704	
oRG	FBXL7	1.376643069	9.23E-14	Ubiquitin proteasome system protein	BrainSpLMD|23194	OMIM|605656
oRG	SLC16A1	0.762819733	9.36E-14	Membrane transport protein	BrainSpLMD|6566;Eurexp|euxassay_003351|Meckel's cartilage, axial muscle, capsule, clavicle, epidermis, foregut-midgut junction, glomeruli, hindgut, incisor, left lung, lobe, loop, marginal layer, meninges, midgut, molar, nasal septum, olfactory, pancreas, rectum, right lung, submandibular gland primordium, testis, thymus primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|600682;HPO|6566|Autosomal dominant inheritance, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise-induced muscle cramps, Exercise-induced muscle fatigue, Exercise-induced muscle stiffness, Feeding difficulties, Global developmental delay, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability, Ketoacidosis, Ketotic hypoglycemia, Pancreatic islet-cell hyperplasia
oRG	TLE4	0.975152614	9.49E-14	Transcription factor	BrainSpLMD|7091;Eurexp|euxassay_018870|calyces, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|21647	OMIM|605132
oRG	NCAM2	1.007865989	9.74E-14	Adhesion molecule	BrainSpLMD|4685;BrainSpMouseDev|17735	OMIM|602040
oRG	PTPRG	1.50111131	9.77E-14	Receptor tyrosine phosphatase	BrainSpLMD|5793	OMIM|176886
oRG	ACYP2	1.101337232	9.95E-14	Enzyme: Hydrolase	BrainSpLMD|98;Eurexp|euxassay_000133|myelohyoid, nucleus pulposus, pectoralis major, pectoralis minor, sublingual gland primordium, submandibular gland primordium, trigeminal V, turbinate, vagus X	OMIM|102595
oRG	NBPF15	0.420425221	1.07E-13	Unclassified		OMIM|614005
oRG	LINC01138	0.853507683	1.09E-13		BrainSpLMD|388685	
oRG	CLDN10	2.154495426	1.15E-13	Integral membrane protein	BrainSpLMD|9071;Eurexp|euxassay_014336|epithelium, incisor, left lung, metanephros, molar, olfactory, oral epithelium, pancreas, right lung, vibrissa	OMIM|617579
oRG	ALDH9A1	1.260065846	1.23E-13	Enzyme: Dehydrogenase	BrainSpLMD|223	OMIM|602733
oRG	9-Sep	0.893944699	1.31E-13			
oRG	ECHDC2	0.715472887	1.33E-13	Unclassified	BrainSpLMD|55268	
oRG	AKAP13	0.263881595	1.38E-13	Guanine nucleotide exchange factor	BrainSpLMD|11214	OMIM|604686
oRG	GPC6	1.270580785	1.42E-13	Growth factor	BrainSpLMD|10082	SFARI||Autism, 4 - Minimal evidence;OMIM|604404;HPO|10082|Anterolateral radial head dislocation, Atrial septal defect, Autosomal recessive inheritance, Axillary pterygia, Blepharophimosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Fibular hypoplasia, Flat face, Frontal bossing, Hemangioma, Hypoplastic distal humeri, Increased fibular diameter, Limited elbow extension, Limited elbow flexion, Limited elbow flexion/extension, Limited hip movement, Limited knee extension, Limited knee flexion, Limited knee flexion/extension, Long philtrum, Malar flattening, Micrognathia, Popliteal pterygium, Pulmonary artery stenosis, Rhizomelia, Short humerus, Short neck, Short nose, Short tibia, Umbilical hernia, Ventricular septal defect, Wide nasal bridge
oRG	LAMP2	0.902256122	1.59E-13	Adhesion molecule	BrainSpLMD|3920	OMIM|309060;HPO|3920|Arrhythmia, Cardiomegaly, Cardiorespiratory arrest, Cognitive impairment, Dilated cardiomyopathy, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Exercise intolerance, Exercise-induced muscle cramps, Gait disturbance, Generalized amyotrophy, Global developmental delay, Hypertrophic cardiomyopathy, Hypokinesia, Intellectual disability, Muscle flaccidity, Myocardial fibrosis, Myocardial necrosis, Pes cavus, Phenotypic variability, Proximal muscle weakness, Visual impairment, Wolff-Parkinson-White syndrome, X-linked dominant inheritance
oRG	ADCY2	1.173347265	1.76E-13	Adenylate cyclase	BrainSpLMD|108;BrainSpMouseDev|84170	OMIM|103071
oRG	MAT2B	0.918911319	1.77E-13	Enzyme: Adenosyltransferase	BrainSpLMD|27430;Eurexp|euxassay_000623|olfactory	OMIM|605527
oRG	IFI27L2	0.773826217	1.91E-13	Integral membrane protein	BrainSpLMD|83982;Eurexp|euxassay_012919|adrenal gland, testis	OMIM|611319
oRG	BAI3	0.783246225	1.93E-13			
oRG	GLTP	0.702602231	1.95E-13	Transport/cargo protein	BrainSpLMD|51228;Eurexp|euxassay_005240|anterior, external, thymus primordium	OMIM|608949
oRG	NKAIN4	1.876681844	2.11E-13	Unclassified	BrainSpLMD|128414	OMIM|612873
oRG	ZMAT1	1.288033494	2.11E-13	DNA binding protein	BrainSpLMD|84460	OMIM|301007
oRG	LINC00263	1.015282845	2.46E-13			
oRG	RNU1.27P	0.997745954	2.49E-13			
oRG	PUS7	1.258808077	2.59E-13	Enzyme: Lyase	BrainSpLMD|54517	OMIM|616261
oRG	ENKUR	1.813371776	3.15E-13	Unclassified	BrainSpLMD|219670	OMIM|611025
oRG	CD47	0.263293644	3.21E-13	Unclassified	BrainSpLMD|961;Eurexp|euxassay_003895|dorsal root ganglion, floorplate, glossopharyngeal IX, left, lip, mantle layer, marginal layer, olfactory, right, thalamus, thymus primordium, trigeminal V, ventral grey horn;BrainSpMouseDev|16196	OMIM|601028
oRG	ITGA2	1.108343522	3.36E-13	Cell surface receptor	BrainSpLMD|3673;Eurexp|euxassay_009582|medulla	OMIM|192974;HPO|3673|Autosomal dominant inheritance, Bruising susceptibility, Congenital onset, Thrombocytopenia
oRG	CPNE2	1.345414062	3.47E-13	Transport/cargo protein	BrainSpLMD|221184;Eurexp|euxassay_001619|choroid plexus, marginal layer, ventricular layer;BrainSpMouseDev|87854	OMIM|604206
oRG	TMBIM1	0.517796618	3.62E-13	Unclassified	BrainSpLMD|64114;Eurexp|euxassay_010366|epithelium, naris, stomach, valve	OMIM|610364
oRG	PIR	2.76781601	3.64E-13	Transcription regulatory protein	BrainSpLMD|8544	OMIM|300931
oRG	PDGFRB	0.488844013	3.71E-13	Receptor tyrosine kinase	BrainSpLMD|5159;BrainSpMouseDev|18362	OMIM|173410;COSMIC||MPN, AML, CMML, CML;HPO|5159|Abnormality of connective tissue, Abnormality of neuronal migration, Abnormality of the hair, Abnormality of the metaphysis, Abnormality of the musculature, Abnormality of the skull, Abnormality of the thorax, Adult onset, Athetosis, Autosomal dominant inheritance, Basal ganglia calcification, Bone cyst, Brachydactyly, Bradykinesia, Calcification of the small brain vessels, Cerebral calcification, Chondrocalcinosis, Chorea, Corneal opacity, Delayed cranial suture closure, Delayed eruption of teeth, Delayed skeletal maturation, Dense calcifications in the cerebellar dentate nucleus, Depressivity, Downslanted palpebral fissures, Dysarthria, Dysdiadochokinesis, Dystonia, Eosinophilia, Fibroma, Fragile skin, Gait disturbance, Gingival fibromatosis, Growth abnormality, Hepatomegaly, Hyperextensible skin, Hyperkeratosis, Hypermetropia, Hyperreflexia, Hypoplasia of the maxilla, Increased thyroid-stimulating hormone level, Intrauterine growth retardation, Limb dysmetria, Lipoatrophy, Long foot, Malignant eosinophil proliferation, Mask-like facies, Memory impairment, Mental deterioration, Microcephaly, Micrognathia, Midface retrusion, Myeloproliferative disorder, Narrow nose, Neoplasm of the lung, Neoplasm of the skin, Osteolytic defects of the phalanges of the hand, Osteopenia, Overgrowth, Parkinsonism, Pointed chin, Postural instability, Progressive, Progressive neurologic deterioration, Prominent forehead, Prominent nasal bridge, Prominent supraorbital ridges, Proptosis, Psychosis, Ptosis, Rigidity, Seizures, Sensorineural hearing impairment, Slender long bone, Sparse hair, Subcutaneous hemorrhage, Subcutaneous nodule, Thin calvarium, Thin skin, Thin upper lip vermilion, Thin vermilion border, Thoracolumbar scoliosis, Thrombocytopenia, Tremor, Urinary incontinence, Ventriculomegaly, Wide nasal bridge
oRG	MIR29B1	1.216817187	3.74E-13			OMIM|610783
oRG	TP53I3	1.778171072	3.75E-13	Cell cycle control protein	BrainSpLMD|9540	OMIM|605171
oRG	EMX2OS	1.380385443	3.82E-13			OMIM|607637
oRG	ANKRD9	2.551213166	3.83E-13	Unclassified	BrainSpLMD|122416	
oRG	JPH1	1.626720968	4.11E-13	Cell junction protein	BrainSpLMD|56704	OMIM|605266;HPO|56704|Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Axonal regeneration, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Infantile onset, Kyphoscoliosis, Proximal muscle weakness, Split hand, Talipes equinovarus
oRG	ANKFN1	2.232978031	4.83E-13	Unclassified	BrainSpLMD|162282	
oRG	DHCR24	1.490190296	4.89E-13	Enzyme: Reductase	BrainSpLMD|1718;Eurexp|euxassay_011628|adrenal gland, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lobe, lung, mantle layer, marginal layer, midgut, molar, neural retina, olfactory, pharyngo-tympanic tube, rectum, respiratory, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ	OMIM|606418;HPO|1718|Absent septum pellucidum, Agenesis of corpus callosum, Anteverted nares, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Bifid uvula, Depressed nasal bridge, Failure to thrive, Feeding difficulties, Hydrocephalus, Intellectual disability, Intrauterine growth retardation, Large earlobe, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscle stiffness, Narrow mouth, Nystagmus, Partial agenesis of the corpus callosum, Phenotypic variability, Relative macrocephaly, Retrognathia, Rigidity, Seizures, Severe short stature, Short nose, Spasticity, Status epilepticus, Strabismus, Submucous cleft hard palate, Ventriculomegaly
oRG	MDK	0.999205852	5.11E-13	Cytokine	BrainSpLMD|4192;Eurexp|euxassay_000525|anal region, gut, head mesenchyme, lung, mesenchyme, metanephros, penis, physiological umbilical hernia, spleen primordium, trunk mesenchyme, ventricular layer	OMIM|162096
oRG	ANKRD20A3	1.09714976	5.13E-13	Unclassified		
oRG	DNAJB1	0.898682515	5.15E-13	Heat shock protein	BrainSpLMD|3337	OMIM|604572;COSMIC||fibrolamellar hepatocellular carcinoma
oRG	CTD.2514C3.1	1.511730071	5.16E-13			
oRG	ECI2	0.939146079	5.56E-13	Enzyme: Isomerase;Unclassified	BrainSpLMD|10455	OMIM|608024
oRG	CAPG	1.276031886	6.14E-13	Cytoskeletal associated protein	BrainSpLMD|822;Eurexp|euxassay_014310|epithelium, incisor, mandible, maxilla, molar, oral epithelium, pharyngo-tympanic tube	OMIM|153615
oRG	ANGPTL1	1.577011172	6.35E-13	Secreted polypeptide	BrainSpLMD|9068;Eurexp|euxassay_011312|axial skeleton, basioccipital bone, basisphenoid bone, cartilaginous ring, diaphragm, greater sac, handplate, mesenchyme, midgut, naris, oesophagus, orbito-sphenoid, otic capsule, peritoneal cavity, rectum, rib, skeletal muscle, sternum, turbinate bones, valve;BrainSpMouseDev|48554	OMIM|603874
oRG	PDIA4	0.850006581	6.86E-13	Chaperone	BrainSpLMD|9601;Eurexp|euxassay_000803|basal plate, telencephalon, ventricular layer	
oRG	FADS2	0.291603829	6.88E-13	Enzyme: Oxidase	BrainSpLMD|9415	OMIM|606149
oRG	FKBP9P1	0.650460399	7.30E-13	Calcium binding protein		
oRG	PHYHIPL	1.132600598	7.52E-13	Unclassified;Integral membrane protein	BrainSpLMD|84457;Eurexp|euxassay_002109|brain, dorsal root ganglion, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	
oRG	PDHB	1.033323476	7.68E-13	Enzyme: Decarboxylase	BrainSpLMD|5162	OMIM|179060;HPO|5162|Autosomal recessive inheritance, Generalized hypotonia, Lactic acidosis
oRG	PLTP	1.540833505	7.81E-13	Transport/cargo protein	BrainSpLMD|5360	OMIM|172425
oRG	SDC2	1.026867809	7.91E-13	Adhesion molecule	BrainSpLMD|6383;Eurexp|euxassay_002176|Meckel's cartilage, basioccipital bone, orbito-sphenoid, rib, temporal bone	SFARI||Autism, 4 - Minimal evidence;OMIM|142460
oRG	YWHAE	0.370505167	7.94E-13	Adapter molecule	BrainSpLMD|7531;Eurexp|euxassay_018722|embryo	SFARI||Autism, 4 - Minimal evidence;OMIM|605066;COSMIC||endometrial stromal sarcoma, Miller-Dieker lissencephaly syndrome;HPO|7531|Abnormality of the cardiovascular system, Abnormality of upper lip, Anteverted nares, Cerebral cortical atrophy, Downslanted palpebral fissures, EEG abnormality, Epicanthus, Frontal bossing, Global developmental delay, Growth delay, High forehead, Hypertelorism, Lissencephaly, Low-set ears, Muscular hypotonia, Narrow mouth, Polyhydramnios, Seizures, Short neck, Short nose, Wide nose
oRG	HSPE1	0.526725463	8.60E-13	Heat shock protein	BrainSpLMD|3336	OMIM|600141
oRG	LINC00982	1.959532717	8.84E-13		BrainSpLMD|440556	
oRG	TJP1	0.522517711	8.93E-13	Cell junction protein	BrainSpLMD|7082;Eurexp|euxassay_018809|brain, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, left lung, meninges, metanephros, right lung, spinal cord, trigeminal V	OMIM|601009
oRG	NBPF11	0.389103776	9.63E-13	Unclassified	BrainSpLMD|200030	OMIM|614001
oRG	HSPE1P2	0.262510116	9.70E-13			
oRG	IL6ST	0.643376355	9.76E-13	Cytokine receptor	BrainSpLMD|3572;BrainSpMouseDev|15968	OMIM|600694;COSMIC||hepatocellular carcinoma
oRG	CRYZ	1.552961945	9.80E-13	Enzyme: Oxidoreductase	BrainSpLMD|1429	OMIM|123691
oRG	FXYD6	0.437057072	9.88E-13	Ion channel	BrainSpLMD|53826;Eurexp|euxassay_005187|brain, cervical, cervico-thoracic, cortex, facial VII, spinal cord, thoracic, trigeminal V, vagus X, valve, vestibulocochlear VIII;BrainSpMouseDev|37655	OMIM|606683
oRG	ANKRD40	0.650421905	9.98E-13	Unclassified	BrainSpLMD|91369	
oRG	EFNB1	1.089815662	1.03E-12	Ligand	BrainSpLMD|1947;Eurexp|euxassay_018017|bladder, cortex, dorsal root ganglion, ductus deferens, incisor, internal capsule, lung, mesenchyme, metanephros, midgut, molar, palatal shelf, phalanx, stomach, sulcus limitans, ventricular layer, vibrissa;BrainSpMouseDev|13419	OMIM|300035;HPO|1947|Abnormality of the dentition, Abnormality of the rib cage, Axillary pterygia, Bifid nasal tip, Brachycephaly, Brachydactyly, Broad hallux, Broad hallux phalanx, Camptodactyly of finger, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Congenital pseudoarthrosis of the clavicle, Coronal craniosynostosis, Craniosynostosis, Cryptorchidism, Depressed nasal ridge, Down-sloping shoulders, Downslanted palpebral fissures, Exotropia, Facial asymmetry, Finger syndactyly, Fragile nails, Frontal bossing, Generalized hypotonia, Global developmental delay, Hand polydactyly, Hemihypotrophy of lower limb, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplastic nasal tip, Hypospadias, Intellectual disability, Joint hyperflexibility, Joint laxity, Low posterior hairline, Microcephaly, Midline defect of the nose, Muscular hypotonia, Nystagmus, Oral cleft, Pectus excavatum, Plagiocephaly, Ridged fingernail, Ridged nail, Sandal gap, Scoliosis, Sensorineural hearing impairment, Shawl scrotum, Short neck, Short stature, Split nail, Sprengel anomaly, Telecanthus, Thickened nuchal skin fold, Toe syndactyly, Umbilical hernia, Unilateral breast hypoplasia, Wide nasal bridge, Widow's peak, Woolly hair, X-linked dominant inheritance
oRG	S100A13	1.421507279	1.07E-12	Calcium binding protein	BrainSpLMD|6284	OMIM|601989
oRG	AC114877.3	1.734373146	1.14E-12			
oRG	NUFIP2	0.468074847	1.15E-12	RNA binding protein	BrainSpLMD|57532	OMIM|609356
oRG	ITGAV	0.940037204	1.22E-12	Cell surface receptor	BrainSpLMD|3685;Eurexp|euxassay_009584|brain, calyces, incisor, mandible, maxilla, mesenchyme, midgut, molar, spinal cord, stomach, submandibular gland primordium, ventricular layer;BrainSpMouseDev|16183	OMIM|193210;COSMIC||large intestine carcinoma
oRG	TRAF3IP2.AS1	0.524479993	1.28E-12			
oRG	ACAA2	0.31579935	1.55E-12	Enzyme: Acyltransferase	BrainSpLMD|10449;Eurexp|euxassay_018546|bladder, choroid invagination, choroid plexus, epidermis, epithelium, liver, oral epithelium, roof plate, vibrissa	OMIM|604770
oRG	CSMD2	1.283597186	1.58E-12	Unclassified	BrainSpLMD|114784;Eurexp|euxassay_013347|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	OMIM|608398
oRG	LPIN2	1.19326955	1.65E-12	Unclassified	BrainSpLMD|9663	OMIM|605519;HPO|9663|Abnormality of bone marrow cell morphology, Acne, Arthralgia, Autosomal recessive inheritance, Bone pain, Cachexia, Chronic recurrent multifocal osteomyelitis, Congenital hypoplastic anemia, Edema, Failure to thrive, Fever, Flexion contracture, Growth delay, Headache, Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Inflammatory abnormality of the skin, Leukocytosis, Metaphyseal irregularity, Myalgia, Osteomyelitis, Papule, Pustule, Splenomegaly, Synovitis
oRG	MEST	1.045400035	1.72E-12	Enzyme: Hydrolase	BrainSpLMD|4232;Eurexp|euxassay_003445|atrium, ventricle;BrainSpMouseDev|17063	OMIM|601029
oRG	SEL1L3	0.965076585	1.89E-12	Integral membrane protein	BrainSpLMD|23231;Eurexp|euxassay_002775|basal plate, calyces, cerebral cortex, corpus striatum, cortex, dorsal root ganglion, ductus deferens, foregut-midgut junction, glossopharyngeal IX, hindgut, marginal layer, midgut, rectum, stomach, submandibular gland primordium, trigeminal V, urethra, vestibulocochlear VIII	
oRG	TRIM5	2.163139562	1.90E-12	Ubiquitin proteasome system protein	BrainSpLMD|85363	OMIM|608487
oRG	BHLHE40	1.458344512	1.95E-12	Transcription factor	BrainSpLMD|8553;BrainSpMouseDev|20655	OMIM|604256
oRG	SPARCL1	0.917212786	2.11E-12	Secreted polypeptide	BrainSpLMD|8404	SFARI||Autism, 3 - Suggestive evidence;OMIM|606041
oRG	PPIB	0.354204989	2.15E-12	Chaperone	BrainSpLMD|5479;Eurexp|euxassay_000530|basioccipital bone, basisphenoid bone, cranium, nucleus pulposus, orbito-sphenoid, otic capsule, rib, sphenoid	OMIM|123841;HPO|5479|Autosomal recessive inheritance, Blue sclerae, Bowing of limbs due to multiple fractures, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Kyphosis, Multiple prenatal fractures, Pectus carinatum, Pectus excavatum, Recurrent fractures, Scoliosis, Wormian bones
oRG	DNAJC3	0.407323913	2.28E-12	Translation regulatory protein	BrainSpLMD|5611	OMIM|601184;HPO|5611|Atrophy/Degeneration affecting the brainstem, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Sensorineural hearing impairment, Short stature, Type I diabetes mellitus
oRG	SEPW1	0.904183895	2.30E-12			
oRG	SEPN1	1.179752076	2.41E-12			
oRG	INSIG1	1.015266391	2.44E-12	Integral membrane protein	BrainSpLMD|3638;Eurexp|euxassay_011040|cervical, cervico-thoracic, glossopharyngeal IX, hindgut, incisor, lobe, mandible, maxilla, mesenchyme, midgut, neural retina, rectum, stomach, thoracic, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|602055
oRG	MAGED1	0.655603521	2.59E-12	Cell cycle control protein	BrainSpLMD|9500;Eurexp|euxassay_012384|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system;BrainSpMouseDev|60907	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300224
oRG	TCF7L2	1.039057434	2.71E-12	Transcription factor	BrainSpLMD|6934;Eurexp|euxassay_019472|lip, mantle layer, mesenchyme, midgut, pancreas, phalanx, skeletal muscle, sternum, stomach, trachea, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|21177	SFARI||Autism, 3 - Suggestive evidence;OMIM|602228;COSMIC||colorectal
oRG	RAD51B	0.870855033	2.81E-12	DNA repair protein	BrainSpLMD|5890;Eurexp|euxassay_010063|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vagus X, ventral grey horn	OMIM|602948;COSMIC||lipoma, uterine leiomyoma
oRG	OGFRL1	1.060181801	3.01E-12	Unclassified	BrainSpLMD|79627;Eurexp|euxassay_010875|dorsal root ganglion, mantle layer, trigeminal V	
oRG	SC5D	0.957611558	3.10E-12	Enzyme: Oxidase	BrainSpLMD|6309;Eurexp|euxassay_003227|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X	OMIM|602286;HPO|6309|Abnormal platelet morphology, Abnormality of the thoracic spine, Anisopoikilocytosis, Anteverted nares, Arnold-Chiari malformation, Autosomal recessive inheritance, Biparietal narrowing, Bulbous nose, Cataract, Cerebellar cortical atrophy, Cerebral calcification, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus, Failure to thrive, Full cheeks, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hearing impairment, Hepatic failure, Hepatomegaly, High palate, Horseshoe kidney, Hypoplasia of penis, Increased mean platelet volume, Intrahepatic cholestasis, Intrauterine growth retardation, Long philtrum, Lumbosacral meningocele, Meningocele, Microcephaly, Microcornea, Micrognathia, Muscular hypotonia, Myoclonus, Narrow forehead, Opacification of the corneal stroma, Postaxial foot polydactyly, Postaxial hand polydactyly, Prominent metopic ridge, Ptosis, Seizures, Short nose, Sloping forehead, Specific learning disability, Talipes, Thrombocytopenia, Toe syndactyly
oRG	GRID2	1.151833969	3.27E-12	Membrane transport protein	BrainSpLMD|2895;BrainSpMouseDev|14580	SFARI||Autism, 4 - Minimal evidence;OMIM|602368;HPO|2895|Autosomal recessive inheritance, Cerebellar atrophy, Cognitive impairment, Dysarthria, Dysdiadochokinesis, Dysmetria, Esotropia, Gait ataxia, Generalized hypotonia, Global developmental delay, Incoordination, Infantile onset, Nystagmus, Oculomotor apraxia, Poor speech, Truncal ataxia
oRG	DARS	0.661465096	3.31E-12	ATPase	BrainSpLMD|1615	OMIM|603084;HPO|1615|Autosomal recessive inheritance, Babinski sign, CNS hypomyelination, Hyperreflexia, Hypoplasia of the corpus callosum, Infantile onset, Leukoencephalopathy, Motor delay, Muscular hypotonia of the trunk, Nystagmus, Progressive, Spasticity
oRG	CALU	0.712468551	3.37E-12	Calcium binding protein	BrainSpLMD|813	OMIM|603420
oRG	METTL7A	0.965908039	3.50E-12	Enzyme: Methyltransferase	BrainSpLMD|25840	
oRG	ADD3	0.595035254	3.88E-12	Cytoskeletal associated protein	BrainSpLMD|120;Eurexp|euxassay_002919|chondrocranium, epithelium, glandular mucous membrane, lumen, mantle layer, pancreas, ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|601568;HPO|120|Abnormal pyramidal signs, Autosomal recessive inheritance, Cognitive impairment, Dysphagia, Exotropia, Global developmental delay, Infantile onset, Microcephaly, Nystagmus, Poor speech, Spastic diplegia, Spastic tetraplegia, Supranuclear gaze palsy, Variable expressivity
oRG	ADAM9	1.181533343	4.06E-12	Metallo protease	BrainSpLMD|8754	OMIM|602713;HPO|8754|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal recessive inheritance, Cone/cone-rod dystrophy, Nyctalopia, Photophobia, Visual impairment
oRG	VEGFA	1.100355809	4.15E-12	Growth factor	BrainSpLMD|7422;BrainSpMouseDev|22096	OMIM|192240
oRG	WSCD1	1.62736969	4.17E-12	Integral membrane protein	BrainSpLMD|23302;Eurexp|euxassay_007047|anterior, brain, calyces, cardiac muscle, ductus deferens, incisor, inner ear, mesenchyme, molar, olfactory, optic II, pelvis, posterior, renal/urinary system, retina, spinal cord, thymus primordium, ureter, vagus X, vertebral axis muscle system, vomeronasal organ	
oRG	FGD5.AS1	0.624439517	4.20E-12			
oRG	AGO3	0.427176092	4.23E-12	Translation regulatory protein	BrainSpLMD|192669	OMIM|607355
oRG	LINC00478	0.452067912	4.54E-12			
oRG	KRCC1	0.895108156	4.57E-12	Unclassified	BrainSpLMD|51315	
oRG	AP000962.2	1.117383739	4.58E-12			
oRG	NPNT	2.104446682	4.69E-12	Unclassified	BrainSpLMD|255743;Eurexp|euxassay_007623|choroid plexus, clavicle, diaphragm, incisor, mandible, mantle layer, maxilla, mesenchyme, metanephros, midgut, nasal septum, olfactory, orbito-sphenoid, penis, pericardial cavity, pleural cavity, skeletal muscle, stomach, vault of skull, ventral grey horn, vertebral axis muscle system, vibrissa	OMIM|610306
oRG	FDPS	1.057617327	4.78E-12	Enzyme: Prenyltransferase	BrainSpLMD|2224;Eurexp|euxassay_005185|adenohypophysis, adrenal gland, axial skeleton, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, limb, liver, lung, mandible, maxilla, mesenchyme, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, paraxial mesenchyme, rectum, retina, skeletal muscle, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|134629;HPO|2224|Cutaneous photosensitivity, Porokeratosis
oRG	LSAMP	0.553961839	4.96E-12	Adhesion molecule	BrainSpLMD|4045	OMIM|603241
oRG	GAREML	1.333102144	5.19E-12			
oRG	AIG1	1.324797428	5.35E-12	Integral membrane protein	BrainSpLMD|51390	OMIM|608514
oRG	MCL1	0.754400301	6.48E-12	Chaperone	BrainSpLMD|4170	OMIM|159552
oRG	DAG1	1.140329056	6.53E-12	Adhesion molecule	BrainSpLMD|1605	OMIM|128239;HPO|1605|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Absent septum pellucidum, Absent speech, Agenesis of corpus callosum, Ankle contracture, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Autosomal recessive inheritance, Buphthalmos, Cataract, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral calcification, Chorioretinal dysplasia, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Delayed speech and language development, Elevated serum creatine phosphokinase, Generalized hypotonia, Glaucoma, Global developmental delay, Gowers sign, Hydrocephalus, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hyporeflexia, Infantile onset, Intellectual disability, Leukodystrophy, Limb-girdle muscle weakness, Lissencephaly, Lumbar hyperlordosis, Macrocephaly, Macrogyria, Metatarsus valgus, Microphthalmia, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Myopia, Optic atrophy, Pachygyria, Polymicrogyria, Poor head control, Respiratory failure, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Skeletal muscle atrophy, Specific learning disability, Variable expressivity, Ventriculomegaly
oRG	SALL2	0.751609976	6.61E-12	Transcription factor	BrainSpLMD|6297;BrainSpMouseDev|30014	OMIM|602219;HPO|6297|Autosomal recessive inheritance, Coloboma, Reduced visual acuity, Visual impairment
oRG	PHIP	0.321860762	7.17E-12	Ligand	BrainSpLMD|55023	SFARI||Autism, 4 - Minimal evidence;OMIM|612870
oRG	C10orf32	0.844895382	7.26E-12			
oRG	KIAA1467	0.547011353	7.53E-12			
oRG	ARC	0.973580851	7.68E-12	Cytoskeletal associated protein	BrainSpMouseDev|11625	OMIM|612461
oRG	ELOVL2	0.672174069	7.70E-12	Unclassified	BrainSpLMD|54898;Eurexp|euxassay_006217|adenohypophysis, brain, calyces, cervical, cervico-thoracic, left, olfactory, right, spinal cord, thoracic, thyroid	OMIM|611814
oRG	TPI1P1	0.622337478	7.72E-12			
oRG	ABCD3	0.528042883	8.74E-12	Integral membrane protein	BrainSpLMD|5825	OMIM|170995;HPO|5825|Autosomal recessive inheritance, Elevated hepatic transaminases, Hepatic failure, Hepatic fibrosis, Hepatomegaly, Infantile onset, Iron deficiency anemia, Jaundice, Progressive, Splenomegaly
oRG	TMEM14C	0.435807864	8.84E-12	Integral membrane protein	BrainSpLMD|51522;Eurexp|euxassay_000161|basal plate, biceps, brachialis, cerebral cortex, deltoid, dorsal root ganglion, erector spinae, external oblique, facial VII, floorplate, genioglossus, glossopharyngeal IX, gluteus maximus, hamstring, hyoglossus, ilio-psoas, infraspinatus, inner ear, intrinsic, labyrinth, lateral wall, latissimus dorsi, mantle layer, marginal layer, masseter, midbrain, middle ear, myelohyoid, naso-lacrimal duct, neural retina, otic capsule, palatoglossus, pectoralis major, pectoralis minor, quadratus lumborum, quadriceps, rectus abdominis, retina, roof plate, serratus anterior, skeletal muscle, spinal cord, styloglossus, sublingual gland primordium, submandibular gland primordium, subscapularis, supraspinatus, tegmentum, telencephalon, teres major, thymus primordium, transverse component, transversus abdominis, trapezius, triceps, trigeminal V, vagus X, ventricular layer, vertical component, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|615318
oRG	HADHB	1.148106992	9.06E-12	Enzyme: Dehydrogenase	BrainSpLMD|3032	OMIM|143450;HPO|3032|Abnormality of the amniotic fluid, Autosomal recessive inheritance, Congestive heart failure, Dilated cardiomyopathy, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Generalized muscle weakness, Global developmental delay, Hydrops fetalis, Hyperammonemia, Hypoketotic hypoglycemia, Lactic acidosis, Myalgia, Myoglobinuria, Peripheral neuropathy, Prenatal maternal abnormality, Respiratory failure, Rhabdomyolysis, Small for gestational age
oRG	C1orf198	0.882465426	9.07E-12	Unclassified	BrainSpLMD|84886;Eurexp|euxassay_016413|dorsal root ganglion, neural retina, ventral grey horn, ventricular layer	
oRG	MT1X	0.358780862	9.14E-12	Transport/cargo protein	BrainSpLMD|4501	OMIM|156359
oRG	NEDD9	1.158975766	9.64E-12	Adhesion molecule	BrainSpLMD|4739;Eurexp|euxassay_006351|aorta, calyces, cortex, epithelium, incisor, left lung, mesenchyme, midgut, molar, olfactory, pelvis, rectum, retina, right lung, sternum, stomach, thymus primordium, thyroid, trachea, ureter, ventricular layer, vibrissa, vomeronasal organ	OMIM|602265
oRG	BBS2	1.128442448	9.72E-12	Unclassified	BrainSpLMD|583	OMIM|606151;HPO|583|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, External genital hypoplasia, Glaucoma, Global developmental delay, Hyperinsulinemia, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Keratoconus, Multicystic kidney dysplasia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Pigmentary retinopathy, Postaxial hand polydactyly, Posterior polar cataract, Progressive night blindness, Retinal degeneration, Rod-cone dystrophy, Sensorineural hearing impairment, Short stature, Wide nasal bridge
oRG	BAG3	1.991568393	9.75E-12	Adapter molecule	BrainSpLMD|9531	OMIM|603883;HPO|9531|Autosomal dominant inheritance, Axonal loss, Congestive heart failure, Demyelinating peripheral neuropathy, Diaphragmatic paralysis, Dilated cardiomyopathy, Distal sensory impairment, EMG: myopathic abnormalities, Easy fatigability, Elevated serum creatine phosphokinase, Facial palsy, Generalized amyotrophy, Hypertrophic cardiomyopathy, Hyporeflexia, Knee flexion contracture, Muscular dystrophy, Myofibrillar myopathy, Nasal speech, Pes cavus, Rapidly progressive, Respiratory insufficiency, Scoliosis, Spinal rigidity
oRG	GOLM1	0.68785399	9.82E-12	Transport/cargo protein	BrainSpLMD|51280;Eurexp|euxassay_002445|rectum	OMIM|606804
oRG	HSPA1A	0.525833635	9.84E-12	Chaperone	BrainSpLMD|3303;Eurexp|euxassay_005687|adrenal gland, testis, vibrissa	OMIM|140550
oRG	CA2	1.405354701	1.05E-11	Enzyme: Carbonic anhydrase	BrainSpLMD|760;Eurexp|euxassay_018564|Meckel's cartilage, bladder, choroid plexus, cochlear duct, fundus region, incisor, lateral recess, lobe, lumen, lung, molar, rectum;BrainSpMouseDev|12134	OMIM|611492;HPO|760|Abnormality of dental morphology, Abnormality of epiphysis morphology, Abnormality of the renal tubule, Anemia, Aseptic necrosis, Autosomal recessive inheritance, Basal ganglia calcification, Bone pain, Carious teeth, Cerebral calcification, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, Distal renal tubular acidosis, Elevated serum acid phosphatase, Extramedullary hematopoiesis, Failure to thrive, Genu valgum, Global developmental delay, Hepatomegaly, Hepatosplenomegaly, Intellectual disability, Mandibular prognathia, Optic nerve compression, Osteopetrosis, Periodic hypokalemic paresis, Peripheral neuropathy, Recurrent fractures, Reduced bone mineral density, Short stature, Splenomegaly, Thrombocytopenia, Visual loss
oRG	SEMA5B	1.164129539	1.06E-11	Integral membrane protein	BrainSpLMD|54437;BrainSpMouseDev|20120	OMIM|609298
oRG	MID1	0.882220219	1.10E-11	Transcription regulatory protein;Ubiquitin proteasome system protein	BrainSpLMD|4281;Eurexp|euxassay_013835|excretory component, marginal layer, neural retina, ventricular layer;BrainSpMouseDev|17087	OMIM|300552;HPO|4281|Abnormal heart morphology, Abnormality of the nasopharynx, Agenesis of corpus callosum, Anal atresia, Anteverted nares, Aspiration, Cleft palate, Cleft upper lip, Cryptorchidism, Dysphagia, Esophageal atresia, Frontal bossing, Gastroesophageal reflux, Global developmental delay, Heterogeneous, High palate, Hypertelorism, Hypospadias, Posterior pharyngeal cleft, Prominent forehead, Smooth philtrum, Telecanthus, Thin upper lip vermilion, Tracheoesophageal fistula, Wide nasal bridge, Widow's peak, X-linked recessive inheritance
oRG	SLC25A37	0.715206862	1.28E-11	Transport/cargo protein	BrainSpLMD|51312;Eurexp|euxassay_007768|liver, mesenchyme	OMIM|610387
oRG	FHOD3	0.963379993	1.32E-11	Regulatory/other subunit	Eurexp|euxassay_000020|axial skeleton, basal columns, capsule, cardiac muscle, dermal component, duodenum, facial VII, foregut, glossopharyngeal IX, hindgut, inferior, mantle layer, medulla, medullary tubules, midgut, muscle, skeletal muscle, trigeminal V, vagus X, ventricular layer, vertebral cartilage condensation, vestibulocochlear VIII	OMIM|609691
oRG	FOLH1	2.611933165	1.33E-11	Carboxypeptidase	BrainSpLMD|2346	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600934
oRG	CDCA7L	1.289029773	1.37E-11	Transcription factor	BrainSpLMD|55536;Eurexp|euxassay_003467|adenohypophysis, epidermis, fundus region, glomeruli, hindgut, left lung, lobe, lumen, lung, marginal layer, midgut, neural retina, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, respiratory, right lung, stomach, submandibular gland primordium, testis, thymus primordium, trachea, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|85297	OMIM|609685
oRG	SCP2	1.02899629	1.40E-11	Membrane transport protein	BrainSpLMD|6342	SFARI||Autism, 4 - Minimal evidence;OMIM|184755;HPO|6342|Abnormal motor neuron morphology, Abnormality of saccadic eye movements, Abnormality of thalamus morphology, Autosomal recessive inheritance, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Hyposmia, Intention tremor, Leukoencephalopathy, Peripheral neuropathy, Torticollis
oRG	HSD17B7	1.097471023	1.41E-11	Enzyme: Dehydrogenase	Eurexp|euxassay_000551|dorsal root ganglion, marginal layer, neural retina, spleen primordium, testis	OMIM|606756
oRG	MSNP1	0.70158176	1.45E-11			
oRG	ARHGAP21	0.314345764	1.52E-11	GTPase activating protein	BrainSpLMD|57584;Eurexp|euxassay_007662|dorsal root ganglion, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, ventral grey horn	OMIM|609870
oRG	VCL	1.541771831	1.54E-11	Cytoskeletal associated protein	BrainSpLMD|7414	OMIM|193065;HPO|7414|Autosomal dominant inheritance, Congestive heart failure, Dilated cardiomyopathy, Dyspnea, Endocardial fibrosis, Hypertrophic cardiomyopathy
oRG	ADD1	0.964913302	1.55E-11	Structural protein	BrainSpLMD|118	OMIM|102680
oRG	GPAM	0.850261464	1.58E-11	Enzyme: Acyltransferase	BrainSpLMD|57678;Eurexp|euxassay_018573|left, right, ventricular layer	OMIM|602395
oRG	TLN2	0.601666686	1.66E-11	Cytoskeletal associated protein	BrainSpLMD|83660	OMIM|607349
oRG	JUND	0.685786782	1.68E-11	Transcription factor	BrainSpLMD|3727;BrainSpMouseDev|16251	OMIM|165162
oRG	SERF2	0.415576789	1.71E-11	RNA binding protein	BrainSpLMD|10169;Eurexp|euxassay_007238|cranium	OMIM|605054
oRG	TSPAN5	0.635611861	1.79E-11	Integral membrane protein	BrainSpLMD|10098	OMIM|613136
oRG	GNAI2	0.457312654	1.85E-11	GTPase;G protein	BrainSpLMD|2771;Eurexp|euxassay_018077|submandibular gland primordium, ventricular layer, vibrissa	OMIM|139360;HPO|2771|Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Paroxysmal ventricular tachycardia, Sudden cardiac death
oRG	IRF2	1.104158894	1.86E-11	Transcription factor	BrainSpLMD|3660;BrainSpMouseDev|16136	OMIM|147576
oRG	ZIC5	1.076102088	1.96E-11	DNA binding protein	BrainSpLMD|85416;BrainSpMouseDev|41618	
oRG	RGS16	1.112615351	2.04E-11	GTPase activating protein	BrainSpLMD|6004;Eurexp|euxassay_006229|diaphragm, dorsal grey horn, lip, mantle layer, marginal layer, mesenchyme, neural retina, skeletal muscle, ventricular layer, vertebral axis muscle system	OMIM|602514
oRG	PTPN13	0.663304288	2.08E-11	Tyrosine phosphatase	BrainSpLMD|5783	OMIM|600267;COSMIC||lung, NSCLC, gastric, peritoneal carcinomatosis, hepatocellular
oRG	OSBPL1A	1.047939867	2.11E-11	Transport/cargo protein	BrainSpLMD|114876	OMIM|606730
oRG	FDFT1	0.48430266	2.12E-11	Enzyme: Synthase	BrainSpLMD|2222;Eurexp|euxassay_005703|calyces, cerebral cortex, cervical, cervico-thoracic, cochlear component, dorsal root ganglion, epithelium, facial VII, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, inferior, inner ear, lens, loop, mantle layer, mesenteric artery, midgut, molar, nucleus pulposus, retina, skeleton, stomach, superior, tegmentum, thoracic, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|184420
oRG	FBXO30	0.692216869	2.13E-11	Ubiquitin proteasome system protein	BrainSpLMD|84085;Eurexp|euxassay_003659|embryo	OMIM|609101
oRG	MTMR10	0.551360152	2.13E-11	Unclassified	BrainSpLMD|54893;Eurexp|euxassay_012297|olfactory, ventricular layer, vibrissa, vomeronasal organ	
oRG	NLGN3	0.867038584	2.15E-11	Integral membrane protein	BrainSpLMD|54413	SFARI||Autism, 2 - Strong candidate;OMIM|300336
oRG	CASC10	0.790052977	2.18E-11	Unclassified		
oRG	SQLE	1.062809904	2.22E-11	Enzyme: Oxygenase	BrainSpLMD|6713	OMIM|602019
oRG	SPATA6	1.5232573	2.27E-11	Unclassified	BrainSpLMD|54558	OMIM|613947
oRG	CPQ	1.724431908	2.27E-11		BrainSpLMD|10404	
oRG	AC120042.1	0.642614823	2.38E-11			
oRG	S1PR3	1.963301921	2.55E-11	G protein coupled receptor		OMIM|601965
oRG	MAGED2	0.673803364	2.57E-11	Unclassified	BrainSpLMD|10916	OMIM|300470;HPO|10916|Fetal polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Hyponatremia, Increased circulating renin level, Medullary nephrocalcinosis, Polyhydramnios, Polyuria, Premature birth, X-linked recessive inheritance
oRG	CDH4	0.694650709	2.68E-11	Adhesion molecule	BrainSpLMD|1002;BrainSpMouseDev|12346	OMIM|603006
oRG	TMEM163	2.025187449	2.69E-11	Unclassified	BrainSpLMD|81615	
oRG	ITM2B	0.415173387	3.03E-11	Integral membrane protein	BrainSpLMD|9445	OMIM|603904;HPO|9445|Ataxia, Autosomal dominant inheritance, Cerebral amyloid angiopathy, Dementia, Hearing impairment, Hypertonia, Intention tremor, Neurofibrillary tangles, Optic disc pallor, Photophobia, Posterior polar cataract, Progressive neurologic deterioration, Psychosis, Retinal dystrophy, Rigidity, Spasticity, Tremor
oRG	HEG1	1.122667415	3.04E-11	Calcium binding protein	BrainSpLMD|57493;Eurexp|euxassay_005510|ventricular layer	OMIM|614182
oRG	LRP10	1.149293106	3.09E-11	Cell surface receptor	BrainSpLMD|26020	OMIM|609921
oRG	CD164	0.759383697	3.09E-11	Adhesion molecule	Eurexp|euxassay_019262|epithelium, incisor, lung, molar, nucleus pulposus, olfactory, orbito-sphenoid, pancreas, pituitary, skeletal muscle, thymus primordium, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|32917	OMIM|603356;HPO|8763|Autosomal dominant inheritance, Sensorineural hearing impairment, Variable expressivity
oRG	PDGFC	0.842211906	3.14E-11	Growth factor	BrainSpLMD|56034;Eurexp|euxassay_003799|choroid plexus, cochlea, cochlear duct, cortex, epithelium, fundus region, gland, head mesenchyme, hindgut, left lung, loop, marginal layer, mesenchyme, midgut, naris, oesophagus, olfactory, penis, pharyngo-tympanic tube, rectum, respiratory, right lung, skeletal muscle, stomach, submandibular gland primordium, tongue, urethra, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|33926	OMIM|608452
oRG	MAGI2.AS3	0.673447541	3.20E-11			
oRG	CNTNAP3B	0.871616374	3.23E-11			
oRG	C6orf89	1.072505115	3.45E-11	Integral membrane protein	BrainSpLMD|221477	OMIM|616642
oRG	PARP14	1.752662299	3.55E-11	Unclassified	BrainSpLMD|54625	OMIM|610028
oRG	TOX	0.553044585	3.89E-11	DNA binding protein	BrainSpLMD|9760;Eurexp|euxassay_006612|axial skeleton, cervical, cervico-thoracic, clavicle, cricoid, diencephalon, exoccipital bone, femur, hindbrain, inner ear, lip, lung, mandible, mantle layer, mesenchyme, metanephros, metatarsus, midbrain, nasal septum, neural retina, orbito-sphenoid, pelvic girdle, penis, phalanx, rib, scapula, stomach, telencephalon, thoracic, thymus primordium, thyroid, turbinate, vault of skull, vibrissa, vomeronasal organ;BrainSpMouseDev|89963	OMIM|606863
oRG	SNCAIP	0.32888122	4.10E-11	Unclassified	BrainSpLMD|9627	OMIM|603779;HPO|9627|Bradykinesia, Constipation, Dementia, Depressivity, Dysarthria, Dysphagia, Dystonia, Insidious onset, Lewy bodies, Mask-like facies, Neuronal loss in central nervous system, Parkinsonism, Personality changes, Postural instability, Progressive, Resting tremor, Rigidity, Short stepped shuffling gait, Sleep disturbance, Sporadic, Substantia nigra gliosis, Urinary urgency, Weak voice
oRG	PLEKHA7	0.845530421	4.37E-11	Unclassified	BrainSpLMD|144100;Eurexp|euxassay_009322|atrium, diaphragm, incisor, molar, olfactory, pharyngo-tympanic tube, respiratory, skeletal muscle, submandibular gland primordium, thymus primordium, ventricle, ventricular layer, vertebral axis muscle system	OMIM|612686
oRG	GAB1	0.935857393	4.54E-11	Adapter molecule	BrainSpLMD|2549	OMIM|604439
oRG	UROD	0.65959851	4.94E-11	Enzyme: Decarboxylase	BrainSpLMD|7389;Eurexp|euxassay_009238|liver, marginal layer, ventricular layer	OMIM|613521;HPO|7389|Alopecia, Autosomal dominant inheritance, Cirrhosis, Cutaneous photosensitivity, Facial hypertrichosis, Fragile skin, Hemolytic anemia, Hepatocellular carcinoma, Hyperpigmentation in sun-exposed areas, Onycholysis, Scleroderma, Thin skin
oRG	AL139184.1	0.896285395	5.34E-11			
oRG	YAP1	1.258639687	5.47E-11	Transcription regulatory protein	BrainSpLMD|10413	OMIM|606608;HPO|10413|Autosomal dominant inheritance, Bilateral cleft lip and palate, Chorioretinal coloboma, Hematuria, Intellectual disability, Iris coloboma, Microphthalmia, Sensorineural hearing impairment
oRG	U1	0.308605154	5.55E-11			
oRG	GCA	1.266864842	5.73E-11	Calcium binding protein	BrainSpLMD|25801;Eurexp|euxassay_012524|ventricular layer	OMIM|607030
oRG	SLC3A2	0.661941369	5.89E-11	Membrane transport protein	BrainSpLMD|6520;Eurexp|euxassay_007752|incisor, liver, mantle layer, meninges, midgut, molar, submandibular gland primordium, thymus primordium, vibrissa	OMIM|158070
oRG	KLHL21	1.974491077	6.17E-11	Unclassified	BrainSpLMD|9903	OMIM|616262
oRG	SEMA4A	1.286674755	6.52E-11	Cell surface receptor	BrainSpLMD|64218;BrainSpMouseDev|20114	OMIM|607292;HPO|64218|Abnormal electroretinogram, Abnormality of color vision, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Cone/cone-rod dystrophy, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Increased lacrimation, Intellectual disability, Keratoconus, Macular degeneration, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Peripheral visual field loss, Photophobia, Progressive night blindness, Progressive visual loss, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
oRG	RIN2	0.277836804	6.57E-11	Guanine nucleotide exchange factor	BrainSpLMD|54453	OMIM|610222;HPO|54453|Abnormality of the sternum, Alopecia, Autosomal recessive inheritance, Bruising susceptibility, Coarse facial features, Cognitive impairment, Cutis laxa, Decreased body weight, Downslanted palpebral fissures, Eclabion, Gingival overgrowth, High palate, High pitched voice, Hirsutism, Hyperextensible skin, Infra-orbital fold, Irregular dentition, Joint hypermobility, Long philtrum, Muscular hypotonia, Palpebral edema, Pes planus, Prolonged bleeding time, Redundant skin, Scoliosis, Short stature, Sparse and thin eyebrow, Sparse hair, Sparse scalp hair, Thick lower lip vermilion, Umbilical hernia, Upper eyelid edema
oRG	STK17B	0.921789296	6.76E-11	Serine/threonine kinase	BrainSpLMD|9262	OMIM|604727
oRG	RAI14	0.540606145	6.87E-11	Unclassified	BrainSpLMD|26064;Eurexp|euxassay_015953|axial muscle, clavicle, floor plate, floorplate, incisor, lung, mandible, maxilla, metanephros, orbito-sphenoid, palatal shelf, penis, physiological umbilical hernia, rib, roof plate, turbinate, ventricular layer	OMIM|606586
oRG	ADCYAP1R1	1.222330925	7.02E-11	G protein coupled receptor	BrainSpLMD|117;Eurexp|euxassay_009317|brain, cervical, cervico-thoracic, medulla, mesenchyme, midgut, oesophagus, spinal cord, stomach, thoracic, tongue, trigeminal V, ventricle, ventricular layer;BrainSpMouseDev|11304	OMIM|102981
oRG	NSRP1	0.457602379	7.06E-11	Unclassified	BrainSpLMD|84081	OMIM|616173
oRG	FZD3	0.465597359	7.40E-11	G protein coupled receptor	BrainSpLMD|7976;BrainSpMouseDev|14141	OMIM|606143
oRG	CTD.2266L18.1	1.601027646	7.48E-11			
oRG	NCKAP5	0.946491236	7.97E-11	Unclassified	BrainSpLMD|344148;Eurexp|euxassay_016857|brain, cochlea, epithelium, left lung, otic capsule, retina, right lung, spinal cord	SFARI||Autism, 4 - Minimal evidence;OMIM|608789
oRG	BCAP29	0.684544355	8.20E-11	Integral membrane protein	BrainSpLMD|55973;Eurexp|euxassay_000840|dorsal root ganglion, lobe, submandibular gland primordium, thymus primordium, vagus X, ventricular layer, vibrissa	
oRG	KIF1A	0.777444964	8.49E-11	Motor protein	BrainSpLMD|547;Eurexp|euxassay_016778|alar plate, basal plate, cerebellum, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601255;HPO|547|Abnormal cortical bone morphology, Abnormality of epiphysis morphology, Abnormality of eye movement, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of the ankles, Abnormality of the eye, Abnormality of the hip bone, Abnormality of the knee, Abnormality of the palate, Abnormality of upper lip, Acral ulceration leading to autoamputation of digits, Anhidrosis, Ankle clonus, Anteverted nares, Areflexia, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Biparietal narrowing, Cerebellar atrophy, Cerebral cortical atrophy, Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Decreased taste sensation, Drowsiness, Dysmetria, Dystrophic fingernails, Dystrophic toenail, Edema of the lower limbs, Epicanthus, Episodic hyperhidrosis, External ear malformation, Feeding difficulties, Feeding difficulties in infancy, Foot acroosteolysis, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hydrocephalus, Hyperhidrosis, Hyperlordosis, Hyperreflexia, Hyporeflexia, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, severe, Limitation of joint mobility, Lower limb amyotrophy, Lower limb muscle weakness, Lower limb spasticity, Macrotia, Malar flattening, Microcephaly, Midface retrusion, Open mouth, Optic atrophy, Osteolytic defects of the phalanges of the hand, Painless fractures due to injury, Palpebral edema, Paronychia, Peripheral axonal neuropathy, Peripheral edema, Peripheral neuropathy, Porencephalic cyst, Progressive, Recurrent respiratory infections, Reduced bone mineral density, Severe muscular hypotonia, Short nose, Skeletal muscle atrophy, Slow progression, Spastic gait, Spastic paraplegia, Tapered finger, Urinary bladder sphincter dysfunction, Variable expressivity, Ventriculomegaly, Visual loss, Wormian bones
oRG	UGP2	0.896215222	8.51E-11	Enzyme: Nucleotidyltransferase	BrainSpLMD|7360;Eurexp|euxassay_006932|calyces, cortex, stomach	OMIM|191760
oRG	ECH1	0.566940826	8.73E-11	Enzyme: Hydratase	BrainSpLMD|1891	OMIM|600696
oRG	TMED10	0.968147584	8.74E-11	Integral membrane protein	BrainSpLMD|10972	OMIM|605406
oRG	FAIM	1.342312509	8.79E-11	Unclassified	BrainSpLMD|55179	OMIM|617535
oRG	MAP3K5	1.186884853	8.86E-11	Serine/threonine kinase	BrainSpLMD|4217;Eurexp|euxassay_018579|bladder, clavicle, lens, mantle layer, naris, olfactory, thymus primordium, thyroid, trigeminal V, vibrissa	OMIM|602448
oRG	ANKRD20A4	0.513717604	9.44E-11	Unclassified		
oRG	RP11.138A9.2	0.952932786	9.55E-11			
oRG	ZBTB20	0.398610849	1.05E-10	Transcription factor	BrainSpLMD|26137;BrainSpMouseDev|35770	SFARI||Autism, 3 - Suggestive evidence;OMIM|606025;HPO|26137|Abnormality of the palate, Absent axillary hair, Absent facial hair, Anemia, Anonychia, Autosomal dominant inheritance, Basilar impression, Bilateral cryptorchidism, Bone cyst, Brachycephaly, Broad forehead, Calcification of the auricular cartilage, Cataract, Conductive hearing impairment, Deeply set eye, Developmental regression, Distal amyotrophy, Downslanted palpebral fissures, Downturned corners of mouth, Gait disturbance, Generalized hypotonia, Generalized osteoporosis, Genu valgum, Gynecomastia, Hearing impairment, Hip contracture, Hydrocephalus, Hypogonadism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Increased size of the mandible, Intellectual disability, Irregular vertebral endplates, Knee flexion contracture, Kyphosis, Macrocephaly, Macrotia, Malar flattening, Metatarsus adductus, Midface retrusion, Myopathy, Narrow chest, Narrow iliac wings, Narrow mouth, Neurodegeneration, Osteolysis, Pectus excavatum, Pes cavus, Plagiocephaly, Posterior polar cataract, Posterior scalloping of vertebral bodies, Ptosis, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Sparse scalp hair, Sporadic, Superiorly displaced ears, Synophrys, Thick lower lip vermilion, Truncal obesity
oRG	SOX3	1.34942536	1.06E-10	Transcription factor	BrainSpLMD|6658;Eurexp|euxassay_019627|ventricular layer;BrainSpMouseDev|20437	OMIM|313430;HPO|6658|Abnormal prolactin level, Abnormality of secondary sexual hair, Agenesis of corpus callosum, Ambiguous genitalia, Amenorrhea, Anterior pituitary hypoplasia, Aplasia/Hypoplasia of the breasts, Cleft palate, Cryptorchidism, Decreased circulating ACTH level, Decreased testicular size, Depressed nasal ridge, Fatigue, Global developmental delay, Growth hormone deficiency, Hemiplegia/hemiparesis, Hypoglycemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypotension, Hypothyroidism, Infertility, Intellectual disability, mild, Male hypogonadism, Nystagmus, Panhypopituitarism, Pituitary dwarfism, Pituitary hypothyroidism, Polycystic ovaries, Seizures, Septo-optic dysplasia, Short stature, Strabismus, Visual impairment, X-linked inheritance
oRG	C14orf1	0.807432406	1.11E-10			
oRG	DTX4	1.158826324	1.13E-10	Ubiquitin proteasome system protein	Eurexp|euxassay_015898|floor plate, floorplate, ventricular layer;BrainSpMouseDev|83873	OMIM|616110
oRG	WEE1	0.555610969	1.13E-10	Dual specificity kinase	BrainSpLMD|7465;Eurexp|euxassay_016462|hindgut, lung, midgut, stomach, submandibular gland primordium, ventricular layer	OMIM|193525
oRG	TAPBP	1.248126325	1.14E-10	Chaperone	BrainSpLMD|6892;Eurexp|euxassay_009813|dorsal root ganglion, facial VII, glossopharyngeal IX, thymus primordium, trigeminal V, ventral grey horn	OMIM|601962;HPO|6892|Autosomal recessive inheritance, Bronchiectasis, Bronchiolitis, Chronic otitis media, Chronic sinusitis, Ectopia lentis, Emphysema, Nasal polyposis, Recurrent bronchitis, Skin ulcer
oRG	PKM	0.75169041	1.15E-10	Enzyme: Phosphotransferase	BrainSpLMD|5315	OMIM|179050
oRG	PSPHP1	1.135428401	1.15E-10	Serine/threonine phosphatase		OMIM|604239
oRG	C11orf49	0.757017862	1.24E-10	Unclassified	BrainSpLMD|79096	
oRG	EMX2	0.713435959	1.28E-10	Transcription factor	BrainSpLMD|2018;Eurexp|euxassay_019479|eyelid, lip, mantle layer, metanephros, olfactory, paramesonephric duct, phalanx, saccule, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|13575	OMIM|600035;HPO|2018|Schizencephaly
oRG	PDE3A	1.681362634	1.34E-10	Enzyme: Phosphodiesterase	BrainSpLMD|5139;Eurexp|euxassay_018678|aorta, basioccipital bone, bladder, cranium, lip, liver, mantle layer, medullary stroma, mesenchyme, midgut, naris, rectum, stomach, turbinate bones, urethra, ventricular layer, vibrissa	OMIM|123805;HPO|5139|Autosomal dominant inheritance, Brachydactyly, Hypertension, Short metacarpal, Short phalanx of finger, Short stature
oRG	HSD17B7P2	1.341668614	1.35E-10		BrainSpLMD|158160	
oRG	RDH11	0.759306906	1.42E-10	Enzyme: Dehydrogenase	BrainSpLMD|51109	OMIM|607849;HPO|51109|Autosomal recessive inheritance, Dental malocclusion, Global developmental delay, Malar flattening, Retinal dystrophy, Short stature, Upslanted palpebral fissure, Widely spaced teeth
oRG	VPS35	0.379324697	1.47E-10	Transport/cargo protein	BrainSpLMD|55737	OMIM|601501
oRG	TIMP2	0.700489237	1.50E-10	Extracellular matrix protein	BrainSpLMD|7077	OMIM|188825
oRG	ARX	0.662650732	1.59E-10	Transcription factor	BrainSpLMD|170302;Eurexp|euxassay_018148|floor plate, floorplate, mantle layer, mesenchyme, ovary, pancreas, paramesonephric duct, skeletal muscle, tarsus, ventricle, ventricular layer;BrainSpMouseDev|11665	SFARI||Autism, No category;OMIM|300382;HPO|170302|Abnormal hair pattern, Abnormality of skin morphology, Abnormality of the hip bone, Agenesis of corpus callosum, Ambiguous genitalia, Broad alveolar ridges, Choreoathetosis, Coarse facial features, Cryptorchidism, Death in infancy, Decreased testicular size, Delayed speech and language development, Developmental regression, Diarrhea, Duane anomaly, Dysarthria, Dysphagia, Dyspnea, Dystonia, EEG abnormality, Epileptic encephalopathy, Feeding difficulties in infancy, Flexion contracture, Focal dystonia, Generalized hirsutism, Generalized hypotonia, Generalized myoclonic seizures, Gliosis, Global developmental delay, Hemiplegia, High forehead, High palate, Hirsutism, Hyperconvex nail, Hyperreflexia, Hypohidrosis, Hypoplasia of penis, Hypospadias, Hypsarrhythmia, Infantile spasms, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Large eyes, Limb dystonia, Limb joint contracture, Lissencephaly, Long philtrum, Long upper lip, Low anterior hairline, Low-set ears, Lower limb spasticity, Malabsorption, Microcephaly, Micrognathia, Micropenis, Muscle stiffness, Muscular hypotonia, Muscular hypotonia of the trunk, Myoclonus, Neonatal hypotonia, Nystagmus, Optic atrophy, Overlapping toe, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Prominent supraorbital ridges, Protruding ear, Renal dysplasia, Rigidity, Scoliosis, Seizures, Severe global developmental delay, Short stature, Spastic tetraplegia, Spasticity, Specific learning disability, Status epilepticus, Strabismus, Synophrys, Tapered finger, Tetraplegia, Thin upper lip vermilion, Triangular face, Ventriculomegaly, Visual impairment, Wide anterior fontanel, Wide nasal bridge, X-linked inheritance, X-linked recessive inheritance
oRG	2-Sep	0.820568228	1.60E-10			
oRG	PIK3C2A	0.772485745	1.64E-10	Lipid Kinase	BrainSpLMD|5286	OMIM|603601
oRG	MED11	1.286672149	1.69E-10	Unclassified	BrainSpLMD|400569	OMIM|612383
oRG	SCAF11	0.686925924	1.69E-10	RNA binding protein	BrainSpLMD|9169;Eurexp|euxassay_014100|ventricle, ventricular layer	OMIM|603668
oRG	SERPINB6	0.934336782	1.76E-10	Protease inhibitor	BrainSpLMD|5269;Eurexp|euxassay_012500|adrenal gland, aorta, diaphragm, dorsal root ganglion, epithelium, eyelid, facial VII, glossopharyngeal IX, hindgut, incisor, left lung, mantle layer, mesenchyme, midgut, naris, naso-lacrimal duct, ovary, rectum, right lung, submandibular gland primordium, testis, thymus primordium, trachea, trigeminal V, umbilical artery, vagus X, ventral grey horn	OMIM|173321;HPO|5269|Autosomal recessive inheritance, Progressive hearing impairment
oRG	CASC4	0.717204629	1.77E-10	Unclassified	BrainSpLMD|113201	SFARI||Autism, 4 - Minimal evidence
oRG	STOX1	1.570336629	1.78E-10	DNA binding protein	BrainSpLMD|219736	OMIM|609397;HPO|219736|Eclampsia, Polygenic inheritance, Preeclampsia
oRG	SPCS2	0.636216084	1.80E-10	Protease		
oRG	FOXK1	0.918970822	1.84E-10	Transcription factor	Eurexp|euxassay_010907|floor plate, floorplate, mantle layer;BrainSpMouseDev|17193	OMIM|616302
oRG	PARP9	2.105122627	1.95E-10	Unclassified	BrainSpLMD|83666;Eurexp|euxassay_010721|thymus primordium	OMIM|612065
oRG	TMEM41B	0.658551303	1.97E-10	Integral membrane protein		
oRG	TUBB2B	0.488914323	2.01E-10	Cytoskeletal protein	BrainSpLMD|347733;Eurexp|euxassay_006373|embryo	OMIM|612850;HPO|347733|Agenesis of corpus callosum, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral palsy, Drooling, Frontoparietal cortical dysplasia, Gait disturbance, Global developmental delay, Hemiparesis, Hyperreflexia, Hypoplasia of the corpus callosum, Intellectual disability, Lissencephaly, Microcephaly, Motor delay, Muscular hypotonia, Pachygyria, Seizures, Short stature, Skeletal muscle atrophy, Specific learning disability, Strabismus, Unilateral polymicrogyria, Variable expressivity
oRG	CRYL1	1.410087054	2.20E-10	Enzyme: Oxidoreductase	BrainSpLMD|51084;Eurexp|euxassay_006081|epithelium, hindgut, midgut, olfactory, rectum, respiratory, thymus primordium	OMIM|609877
oRG	RNF141	0.907363205	2.25E-10	Transcription factor	BrainSpLMD|50862	OMIM|616641
oRG	LINC01351	1.795171731	2.44E-10			
oRG	FGFR1	1.099538975	2.51E-10	Receptor tyrosine kinase	BrainSpLMD|2260;BrainSpMouseDev|13959	OMIM|136350;COSMIC||MPN, NHL, salivary adenoma, Pfeiffer syndrome, Kallman syndrome;HPO|2260|2-3 toe syndactyly, Abnormal form of the vertebral bodies, Abnormality of body height, Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Abnormality of the clavicle, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Absent septum pellucidum, Agenesis of corpus callosum, Alopecia, Anosmia, Anterior hypopituitarism, Anterior pituitary hypoplasia, Anteverted nares, Anxiety, Aphasia, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Arachnoid cyst, Arnold-Chiari malformation, Atrial septal defect, Autosomal dominant inheritance, Bicoronal synostosis, Bimanual synkinesia, Bone cyst, Bowing of the long bones, Brachycephaly, Brachyturricephaly, Breast hypoplasia, Broad foot, Broad hallux, Broad hallux phalanx, Broad metacarpals, Broad metatarsal, Broad palm, Broad phalanx, Broad thumb, Bronchomalacia, Calcaneonavicular fusion, Capillary hemangiomas, Cartilaginous trachea, Cerebellar hypoplasia, Cerebral calcification, Cerebral cortical atrophy, Choanal atresia, Choanal stenosis, Chordee, Cleft eyelid, Cleft palate, Cleft upper lip, Cloverleaf skull, Corneal opacity, Coronal craniosynostosis, Cortical dysplasia, Craniofacial hyperostosis, Craniosynostosis, Cryptorchidism, Dandy-Walker malformation, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Depressivity, Diabetes insipidus, Downslanted palpebral fissures, Dysphasia, Echolalia, Ectrodactyly, Elbow ankylosis, Encephalocele, Epibulbar dermoid, Epicanthus, Erectile abnormalities, Eunuchoid habitus, Failure to thrive, Failure to thrive in infancy, Female hypogonadism, Finger syndactyly, Frontal bossing, Global developmental delay, Gonadotropin deficiency, Gynecomastia, Hallux varus, Hemiplegia/hemiparesis, Heterogeneous, High forehead, High palate, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hypernatremia, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the frontal bone, Hypoplasia of the iris, Hypoplasia of the maxilla, Hypoplasia of the ovary, Hypoplasia of the uterus, Hypoplastic scapulae, Hypoplastic toenails, Hyposmia, Hypospadias, Hypotelorism, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Incomplete penetrance, Increased female libido, Increased susceptibility to fractures, Inguinal hernia, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Limb undergrowth, Linear hyperpigmentation, Lipodystrophy, Lipoma, Lipomas of the central neryous system, Lobar holoprosencephaly, Long penis, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hemivertebrae, Macrocephaly, Malar flattening, Male hypogonadism, Mandibular prognathia, Meckel diverticulum, Microcephaly, Microdontia, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Multiple lipomas, Multiple unerupted teeth, Muscle stiffness, Mutism, Nasal obstruction, Neonatal hypotonia, Neoplasm of the skeletal system, Nevus flammeus, Non-midline cleft lip, Non-obstructive azoospermia, Nystagmus, Oligodontia, Omphalocele, Osteolysis, Osteopenia, Osteoporosis, Pelvic kidney, Peripheral pulmonary artery stenosis, Platyspondyly, Posteriorly rotated ears, Preauricular skin tag, Primary amenorrhea, Prominent supraorbital ridges, Proptosis, Protruding ear, Pseudoarthrosis, Ptosis, Pulmonary arterial hypertension, Reduced bone mineral density, Reduced number of teeth, Respiratory distress, Respiratory insufficiency, Retinopathy, Rhizomelia, Rigidity, Sclerocornea, Secondary amenorrhea, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Severe short stature, Shallow orbits, Short foot, Short hallux, Short metacarpal, Short metatarsal, Short middle phalanx of toe, Short neck, Short nose, Short palm, Short phalanx of finger, Short stature, Shortening of all middle phalanges of the fingers, Somatic mosaicism, Sparse body hair, Spasticity, Split hand, Sporadic, Strabismus, Subcortical cerebral atrophy, Subcutaneous lipoma, Subcutaneous nodule, Subvalvular aortic stenosis, Syndactyly, Synophrys, Telecanthus, Toe syndactyly, Tricuspid valve prolapse, Trigonocephaly, Unerupted tooth, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide intermamillary distance, Wide nasal bridge, Wide nose, Xanthomatosis
oRG	CLCN3	1.000532754	2.57E-10	Voltage gated channel	BrainSpLMD|1182;Eurexp|euxassay_012819|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn, ventricular layer	OMIM|600580
oRG	CTBP2	0.813412513	2.62E-10	Adapter molecule;Transcription regulatory protein	BrainSpLMD|1488;Eurexp|euxassay_012486|eyelid, incisor, lung, marginal layer, metanephros, midgut, molar, pancreas, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|12800	OMIM|602619
oRG	RGL1	0.549254878	2.82E-10	Guanine nucleotide exchange factor	BrainSpLMD|23179	OMIM|605667
oRG	MPP5	1.199649803	2.86E-10	Unclassified	BrainSpLMD|64398	OMIM|606958
oRG	SPCS2P4	0.664254788	2.94E-10			
oRG	SPCS1	0.760128964	2.99E-10	Unclassified	BrainSpLMD|28972;Eurexp|euxassay_008166|mandible, maxilla	OMIM|610358
oRG	LDHA	0.558955895	3.04E-10	Enzyme: Dehydrogenase	BrainSpLMD|3939	OMIM|150000;HPO|3939|Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise intolerance, Increased serum lactate, Increased serum pyruvate, Juvenile onset, Muscle cramps, Muscle stiffness, Myalgia, Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Rigidity
oRG	HSP90B1	0.51898036	3.14E-10	Heat shock protein	BrainSpLMD|7184;Eurexp|euxassay_000099|body-wall mesenchyme, dermis, epidermis, nucleus pulposus	OMIM|191175
oRG	PSME1	0.317165396	3.18E-10	Ubiquitin proteasome system protein	BrainSpLMD|5720	OMIM|600654
oRG	PDE4B	0.486640277	3.19E-10	Enzyme: Phosphodiesterase	BrainSpLMD|5142;Eurexp|euxassay_018064|cochlea, mantle layer, utricle	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600127
oRG	TLE1	0.74955932	3.20E-10	Transcription regulatory protein	BrainSpLMD|7088;Eurexp|euxassay_017921|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, pituitary, stroma, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|21644	OMIM|600189
oRG	ACOX1	0.502948295	3.35E-10	Enzyme: Oxidase	BrainSpLMD|51;Eurexp|euxassay_018548|dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, trigeminal V, vagus X, ventricular layer	OMIM|609751;HPO|51|Abnormal electroretinogram, Abnormality of metabolism/homeostasis, Abnormality of nervous system morphology, Abnormality of visual evoked potentials, Autosomal recessive inheritance, Babinski sign, Bilateral sensorineural hearing impairment, Brachycephaly, CNS demyelination, Death in infancy, Decreased light- and dark-adapted electroretinogram amplitude, Depressed nasal bridge, Developmental regression, Diffuse hepatic steatosis, Dysphagia, Dystonia, EEG abnormality, Elevated hepatic transaminases, Epicanthus, Failure to thrive, Frontal bossing, Gait disturbance, Global developmental delay, Hepatomegaly, Hyperreflexia, Hypertelorism, Hypertonia, Hypodontia, Infantile onset, Intellectual disability, progressive, Intellectual disability, severe, Inverted nipples, Irritability, Leukodystrophy, Low-set ears, Muscular hypotonia, Myopia, Neonatal hypotonia, Neurological speech impairment, No social interaction, Nystagmus, Optic atrophy, Pigmentary retinopathy, Respiratory insufficiency, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Strabismus, Tapetoretinal degeneration, Wide nasal bridge
oRG	ATF4	0.602642749	3.55E-10	Transcription factor	BrainSpLMD|468;BrainSpMouseDev|11698	OMIM|604064
oRG	FABP5P1	0.460766879	3.56E-10			
oRG	TBC1D1	0.990706865	3.57E-10	Unclassified	BrainSpLMD|23216	OMIM|609850
oRG	GEM	1.835772887	3.63E-10	G protein	BrainSpLMD|2669;Eurexp|euxassay_003192|adrenal gland, clavicle, dorsal grey horn, incisor, molar, oesophagus, testis, ventricular layer, vibrissa	OMIM|600164
oRG	APBB2	0.943464707	3.64E-10	Adapter molecule	BrainSpLMD|323;Eurexp|euxassay_007659|corpus striatum, mantle layer, nasal septum, neural retina, turbinate bones, ventral grey horn	OMIM|602710
oRG	SGK3	1.717548769	3.85E-10	Serine/threonine kinase	BrainSpLMD|23678	OMIM|607591
oRG	PPP2CB	0.581899946	4.04E-10	Serine/threonine phosphatase	BrainSpLMD|5516	OMIM|176916
oRG	STXBP3	1.196980923	4.42E-10	Transport/cargo protein	BrainSpLMD|6814	OMIM|608339
oRG	RAB6B	0.758055283	4.50E-10	GTPase	BrainSpLMD|51560;Eurexp|euxassay_005421|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, respiratory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|615852
oRG	DAD1	0.349167145	4.55E-10	Adapter molecule	BrainSpLMD|1603;Eurexp|euxassay_012117|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|600243
oRG	PEX2	0.880269798	4.76E-10	Integral membrane protein	BrainSpLMD|5828;Eurexp|euxassay_006584|embryo	OMIM|170993;HPO|5828|Abnormal heart morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the helix, Abnormality of the liver, Abnormality of the palate, Anteverted nares, Areflexia, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, Brushfield spots, Camptodactyly, Cataract, Cerebellar atrophy, Chorioretinal abnormality, Cleft palate, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Cubitus valgus, Death in infancy, Decreased liver function, Depressed nasal bridge, Developmental regression, Difficulty running, Dolichocephaly, Dysarthria, Dysmetria, EEG abnormality, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Generalized neonatal hypotonia, Global developmental delay, Hepatic failure, Hepatomegaly, Hepatosplenomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypertelorism, Hyporeflexia, Hypospadias, Intellectual disability, Intrahepatic biliary dysgenesis, Intrauterine growth retardation, Jaundice, Large fontanelles, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrogyria, Malabsorption, Metatarsus adductus, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Muscular hypotonia, Neonatal hypotonia, Nyctalopia, Nystagmus, Oculomotor apraxia, Opacification of the corneal stroma, Optic atrophy, Optic nerve dysplasia, Palpebral edema, Pigmentary retinopathy, Polymicrogyria, Poor suck, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Renal cortical microcysts, Renal cyst, Respiratory insufficiency, Rod-cone dystrophy, Round face, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Single transverse palmar crease, Skeletal dysplasia, Slow progression, Slow saccadic eye movements, Spasticity, Splenomegaly, Stippled chondral calcification, Strabismus, Talipes equinovarus, Tremor, Underdeveloped supraorbital ridges, Unsteady gait, Upslanted palpebral fissure, Variable expressivity, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
oRG	HNRNPF	0.588848198	4.88E-10	Ribonucleoprotein	BrainSpLMD|3185	OMIM|601037
oRG	ARPP19	0.357924165	4.94E-10	Unclassified	BrainSpLMD|10776	OMIM|605487
oRG	DHX40	0.551151526	5.01E-10	ATPase	BrainSpLMD|79665	OMIM|607570
oRG	LAP3	1.132532675	5.14E-10	Aminopeptidase	BrainSpLMD|51056;Eurexp|euxassay_002166|ventricular layer	OMIM|170250
oRG	CALM1	0.355627014	5.16E-10	Calcium binding protein	BrainSpLMD|801	OMIM|114180;HPO|801|Autosomal dominant inheritance, Cardiac arrest, Prolonged QT interval, Sudden death, Syncope, Ventricular tachycardia, Vertigo
oRG	TNS1	1.272483473	5.24E-10	Adhesion molecule	BrainSpLMD|7145	OMIM|600076
oRG	GARNL3	0.552258946	5.25E-10	GTPase activating protein	BrainSpLMD|84253;Eurexp|euxassay_009037|dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn	
oRG	TMEM107	0.494326219	5.54E-10	Unclassified	BrainSpLMD|84314;Eurexp|euxassay_005337|choroid plexus, lateral recess, olfactory, pharynx, respiratory	OMIM|616183;HPO|84314|Aplasia/Hypoplasia of the iris, Cataract, Chorioretinal abnormality, Cleft palate, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Encephalocele, Full cheeks, Hypertelorism, Lobar holoprosencephaly, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Oligohydramnios, Optic atrophy, Postaxial foot polydactyly, Postaxial hand polydactyly, Sclerocornea, Sloping forehead, Talipes
oRG	ATF3	1.750405859	5.67E-10	Transcription regulatory protein	BrainSpLMD|467;Eurexp|euxassay_006681|femur, humerus, ventricle;BrainSpMouseDev|11697	OMIM|603148
oRG	TSPAN18	1.38075875	5.79E-10	Integral membrane protein	BrainSpLMD|90139;Eurexp|euxassay_002400|ventricular layer	
oRG	PDE6B	0.922906267	6.00E-10	Enzyme: Esterase	BrainSpLMD|5158	OMIM|180072;HPO|5158|Abnormal electroretinogram, Abnormal light- and dark-adapted electroretinogram, Abnormality of macular pigmentation, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Congenital stationary night blindness, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc hypoplasia, Photophobia, Progressive night blindness, Reduced visual acuity, Rod-cone dystrophy, Sensorineural hearing impairment, Severe Myopia, Wide nasal bridge
oRG	HIBCH	1.03726738	6.20E-10	Enzyme: Hydrolase	BrainSpLMD|26275	OMIM|610690;HPO|26275|Abnormal facial shape, Abnormal vertebral morphology, Agenesis of corpus callosum, Aminoaciduria, Autosomal recessive inheritance, Developmental regression, Dysmetria, Dystonia, Epicanthus, Feeding difficulties, Generalized hypotonia, Global developmental delay, Infantile onset, Muscular hypotonia, Myoclonus, Nystagmus, Seizures, Strabismus, Tetralogy of Fallot
oRG	CDC14B	1.048815538	6.21E-10	Dual specificity phosphatase	BrainSpLMD|8555	OMIM|603505
oRG	HSPA5	0.578612084	6.25E-10	Chaperone	BrainSpLMD|3309	OMIM|138120
oRG	MAGI1	0.5089481	6.47E-10	Cell junction protein	BrainSpLMD|9223;Eurexp|euxassay_016214|axial skeleton, clavicle, femur, fibula, humerus, pelvic girdle, rib, scapula, tibia	OMIM|602625
oRG	MAMDC2	1.788747443	6.67E-10	Cell surface receptor	BrainSpLMD|256691;Eurexp|euxassay_006602|embryo	OMIM|612879
oRG	PLOD2	0.847332984	6.75E-10	Enzyme: Hydroxylase	BrainSpLMD|5352;Eurexp|euxassay_008722|axial skeleton, basisphenoid bone, clavicle, exoccipital bone, mesenchyme, nasal septum, otic capsule, petrous part, rib, sternum, tongue, trachea, turbinate	OMIM|601865;HPO|5352|Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Elbow flexion contracture, Femoral bowing, Flexion contracture, Hydroxyprolinuria, Increased susceptibility to fractures, Inguinal hernia, Joint stiffness, Knee flexion contracture, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes equinovarus, Triangular face, Wormian bones
oRG	SHC3	1.023789684	7.45E-10	Adapter molecule	BrainSpLMD|53358;Eurexp|euxassay_009466|cochlear duct, ventral grey horn, ventricular layer	OMIM|605263
oRG	L3HYPDH	1.867672577	7.66E-10	Unclassified	BrainSpLMD|112849	OMIM|614811
oRG	PLXNC1	1.073669182	8.14E-10	Integral membrane protein	BrainSpLMD|10154;BrainSpMouseDev|34001	OMIM|604259
oRG	APOOL	0.390849823	8.24E-10	Unclassified	BrainSpLMD|139322	OMIM|300955
oRG	DSEL	0.540497927	8.46E-10	Enzyme: Sulphotransferase	BrainSpLMD|92126	OMIM|611125
oRG	TLN1	0.665653888	8.62E-10	Cytoskeletal associated protein	BrainSpLMD|7094;Eurexp|euxassay_011794|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	OMIM|186745
oRG	PARK7	0.624233557	8.84E-10	RNA binding protein	BrainSpLMD|11315	OMIM|602533;HPO|11315|Adult onset, Anxiety, Autosomal recessive inheritance, Blepharospasm, Bradykinesia, Postural tremor, Psychotic episodes, Resting tremor, Rigidity, Slow progression
oRG	GLI2	1.971847055	9.50E-10	Transcription factor	BrainSpLMD|2736;Eurexp|euxassay_008920|marginal layer, ventricular layer;BrainSpMouseDev|14409	OMIM|165230;HPO|2736|Abnormal cortical gyration, Abnormal prolactin level, Abnormality of secondary sexual hair, Agenesis of incisor, Amenorrhea, Anophthalmia, Anterior pituitary agenesis, Anterior pituitary hypoplasia, Aplasia/Hypoplasia of the breasts, Autosomal dominant inheritance, Bilateral cleft lip and palate, Cryptorchidism, Decreased circulating ACTH level, Decreased testicular size, Dental malocclusion, Depressed nasal bridge, Depressed nasal ridge, Ectopic posterior pituitary, Fatigue, Global developmental delay, Growth hormone deficiency, Holoprosencephaly, Hydrocephalus, Hypoglycemia, Hypogonadotrophic hypogonadism, Hypopituitarism, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Hypotelorism, Hypotension, Incomplete penetrance, Infertility, Macrotia, Malar flattening, Microcephaly, Micropenis, Microphthalmia, Midface retrusion, Optic nerve hypoplasia, Osteopenia, Panhypopituitarism, Partial agenesis of the corpus callosum, Pituitary hypothyroidism, Postaxial hand polydactyly, Prominent antihelix, Seizures, Short hard palate, Short philtrum, Short stature, Single median maxillary incisor, Single naris, Sporadic, Underdeveloped tragus, Variable expressivity
oRG	CXXC4	0.259068318	9.70E-10	Unclassified	BrainSpLMD|80319;Eurexp|euxassay_008607|bladder, brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, head mesenchyme, incisor, larynx, medullary stroma, mesenchyme, midgut, molar, naris, neural retina, oesophagus, olfactory, pancreas, pelvic girdle, skeletal muscle, spinal cord, stomach, thoracic, thymus primordium, thyroid, trachea, trigeminal V, trunk mesenchyme, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|106413	OMIM|611645
oRG	SLC44A2	1.078472795	9.85E-10	Integral membrane protein	BrainSpLMD|57153	OMIM|606106
oRG	RPN2	0.623665739	1.04E-09	Enzyme: Glycosyltransferase	BrainSpLMD|6185;Eurexp|euxassay_018263|embryo	OMIM|180490
oRG	CCNL1	0.748638064	1.04E-09	RNA binding protein	BrainSpLMD|57018	OMIM|613384
oRG	LEPROT	0.665136847	1.05E-09	Integral membrane protein		OMIM|613461
oRG	PARVA	1.204658556	1.06E-09	Cytoskeletal associated protein	BrainSpLMD|55742	OMIM|608120
oRG	DMRTA2	1.231800399	1.07E-09	Transcription factor		OMIM|614804
oRG	VSIG10	1.118025205	1.10E-09	Unclassified	BrainSpLMD|54621	
oRG	CNTFR	1.290570006	1.11E-09	Cell surface receptor	BrainSpLMD|1271	OMIM|118946
oRG	SMURF2	0.423272091	1.13E-09	Ubiquitin proteasome system protein	BrainSpLMD|64750	OMIM|605532
oRG	GNG11	0.831633162	1.15E-09	G protein	BrainSpLMD|2791	OMIM|604390
oRG	RALGAPA2	0.642126506	1.15E-09	Unclassified	BrainSpLMD|57186	
oRG	CTH	1.060208225	1.17E-09	Cysteine protease	BrainSpLMD|1491;Eurexp|euxassay_000513|axial skeleton, cranium, head mesenchyme, incisor, oesophagus, otic capsule, turbinate bones	OMIM|607657;HPO|1491|Autosomal recessive inheritance, Cystathioninuria
oRG	RP11.208G20.2	0.474016551	1.19E-09			
oRG	JADE1	0.707087897	1.25E-09	Unclassified	BrainSpLMD|79960	OMIM|610514
oRG	SH3RF1	0.448663754	1.26E-09	Unclassified	BrainSpLMD|57630;Eurexp|euxassay_016453|mantle layer	
oRG	TMEM14A	0.27104602	1.30E-09	Integral membrane protein	BrainSpLMD|28978	OMIM|616870
oRG	CYB5R3	0.281101948	1.35E-09	Enzyme: Reductase	BrainSpLMD|1727	OMIM|613213;HPO|1727|Autosomal recessive inheritance, Cyanosis, Exertional dyspnea, Global developmental delay, Growth delay, Headache, Hypertonia, Intellectual disability, Methemoglobinemia, Microcephaly, Opisthotonus, Polycythemia, Strabismus
oRG	AP3S2	1.0422155	1.39E-09	Adapter molecule	BrainSpLMD|10239;Eurexp|euxassay_013638|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|602416
oRG	IFI44L	1.115295391	1.41E-09	Unclassified	BrainSpLMD|10964;Eurexp|euxassay_000516|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, medulla oblongata, mesenchyme, metencephalon, midbrain, olfactory, retina, stroma, sublingual gland primordium, submandibular gland primordium, thoracic, trigeminal V, urethra, vagus X, vestibulocochlear VIII	OMIM|613975
oRG	AP001172.2	0.935203837	1.43E-09			
oRG	N4BP2L1	2.154599172	1.46E-09	Unclassified	BrainSpLMD|90634	
oRG	TROVE2	0.377940843	1.48E-09	RNA binding protein	BrainSpLMD|6738	OMIM|600063
oRG	KCNN3	1.024838135	1.70E-09	Intracellular ligand gated channel	BrainSpLMD|3782	OMIM|602983
oRG	NAPEPLD	1.18772112	1.71E-09	Enzyme: Phospholipase	BrainSpLMD|222236	OMIM|612334
oRG	KCTD6	0.588108607	1.76E-09	Ion channel	BrainSpLMD|200845;Eurexp|euxassay_003600|dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vibrissa	
oRG	TAF13	0.647024902	1.79E-09	Transcription factor	BrainSpLMD|6884;Eurexp|euxassay_001598|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, submandibular gland primordium, trigeminal V, vagus X;BrainSpMouseDev|63900	OMIM|600774;HPO|6884|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Delayed puberty, Delayed skeletal maturation, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Small for gestational age, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vesicoureteral reflux
oRG	CBX3P3	1.198243119	1.84E-09			
oRG	IFI6	0.767717094	1.94E-09	Unclassified	BrainSpLMD|2537	OMIM|147572
oRG	GAPDH	0.307199694	1.99E-09	Enzyme: Dehydrogenase		OMIM|138400
oRG	NFE2L1	1.546135472	2.05E-09	Transcription factor	BrainSpLMD|4779;BrainSpMouseDev|17790	OMIM|163260
oRG	HERPUD2	0.548518394	2.12E-09	Unclassified	BrainSpLMD|64224	
oRG	RP11.436D23.1	0.486856034	2.15E-09			
oRG	FAM84A	1.08482382	2.18E-09	Unclassified	BrainSpLMD|151354;Eurexp|euxassay_003388|respiratory, submandibular gland primordium, urethra, vibrissa	OMIM|611234
oRG	SLC12A2	0.685803551	2.19E-09	Membrane transport protein	BrainSpLMD|6558;Eurexp|euxassay_008837|cortex, incisor, left lung, midgut, olfactory, pharyngo-tympanic tube, rectum, right lung, stomach, submandibular gland primordium;BrainSpMouseDev|20258	OMIM|600840
oRG	LAMTOR1	0.649330901	2.19E-09	Unclassified	BrainSpLMD|55004	OMIM|613510
oRG	ARSD	0.759024124	2.24E-09	Enzyme: Sulphatase	BrainSpLMD|414	OMIM|300002
oRG	WASF2	0.645222767	2.24E-09	Cytoskeletal associated protein	BrainSpLMD|10163	OMIM|605875
oRG	THBS2	1.561871213	2.37E-09	Extracellular matrix protein	BrainSpLMD|7058	OMIM|188061
oRG	ACTN1	0.695615605	2.43E-09	Cytoskeletal associated protein;Structural protein	BrainSpLMD|87	OMIM|102575;HPO|87|Anisocytosis, Autosomal dominant inheritance, Increased mean platelet volume, Thrombocytopenia
oRG	ALDOA	0.807254576	2.45E-09	Enzyme: Lyase;Enzyme: Aldolase	BrainSpLMD|226	OMIM|103850;HPO|226|Autosomal recessive inheritance, Cholecystitis, Cholelithiasis, Delayed puberty, Epicanthus, Jaundice, Low posterior hairline, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Ptosis, Short neck, Short stature, Splenomegaly
oRG	EEA1	0.505725214	2.47E-09	Membrane transport protein	BrainSpLMD|8411	OMIM|605070
oRG	SALL1	0.375233908	2.67E-09	Transcription factor	BrainSpLMD|6299;Eurexp|euxassay_000198|basal columns, corpus striatum, epithelium, floor plate, floorplate, glomeruli, handplate, head mesenchyme, intermediate grey horn, isthmus, lateral wall, mantle layer, marginal layer, medulla oblongata, mesenchyme, olfactory, pars tuberalis, penis, skin, telencephalon, thyroid, ventral grey horn, ventricular layer;BrainSpMouseDev|37230	OMIM|602218;HPO|6299|2-3 toe syndactyly, 3-4 finger syndactyly, 3-4 toe syndactyly, Anal atresia, Anal stenosis, Anteriorly placed anus, Aplasia/Hypoplasia of the 3rd toe, Autosomal dominant inheritance, Bifid scrotum, Bifid uterus, Broad thumb, Chorioretinal coloboma, Clinodactyly of the 5th finger, Constipation, Cryptorchidism, Duodenal atresia, External ear malformation, Gastroesophageal reflux, Hearing impairment, Hypospadias, Hypothyroidism, Intellectual disability, Macrotia, Metatarsal synostosis, Microcephaly, Microtia, Overfolded helix, Overfolding of the superior helices, Partial duplication of thumb phalanx, Pes planus, Preauricular skin tag, Preaxial hand polydactyly, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Rectovaginal fistula, Renal insufficiency, Satyr ear, Short metatarsal, Stahl ear, Subcutaneous nodule, Tetralogy of Fallot, Toe clinodactyly, Triphalangeal thumb, Umbilical hernia, Urethral valve, Ventricular septal defect
oRG	RNU1.1	0.871884078	2.77E-09			
oRG	CTNNB1	0.322281245	2.83E-09	Adhesion molecule	BrainSpLMD|1499;BrainSpMouseDev|12172	SFARI||Autism, 3 - Suggestive evidence;OMIM|116806;COSMIC||colorectal, ovarian, hepatoblastoma, pleomorphic salivary gland adenoma, other tumour types;HPO|1499|Abdominal pain, Abnormal hypothalamus morphology, Abnormal visual field test, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Autosomal dominant inheritance, Autosomal recessive inheritance, Bitemporal hemianopia, Breast carcinoma, Central adrenal insufficiency, Central diabetes insipidus, Cerebral calcification, Desmoid tumors, Dysgerminoma, Elevated alpha-fetoprotein, Enlarged pituitary gland, Epigastric pain, Excessive daytime somnolence, Fatigue, Generalized hypotonia, Global developmental delay, Headache, Hepatic fibrosis, Hepatic necrosis, Hepatocellular carcinoma, Hepatomegaly, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hypogonadotrophic hypogonadism, Hypoplasia of the corpus callosum, Incomplete penetrance, Infantile onset, Intellectual disability, Intestinal polyposis, Intracranial cystic lesion, Long philtrum, Malabsorption, Medulloblastoma, Microcephaly, Micronodular cirrhosis, Myalgia, Nausea and vomiting, Neoplasm of the anterior pituitary, Neoplasm of the stomach, Neurological speech impairment, Obesity, Ovarian papillary adenocarcinoma, Papilledema, Pilomatrixoma, Pituitary hypothyroidism, Portal vein thrombosis, Progressive visual field defects, Prolactin excess, Renal cell carcinoma, Slow decrease in visual acuity, Somatic mutation, Spastic diplegia, Strabismus, Subacute progressive viral hepatitis, Subcutaneous nodule, Thin upper lip vermilion, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Vomiting
oRG	PCBD1	1.176334309	2.91E-09	Enzyme: Dehydratase	BrainSpLMD|5092;Eurexp|euxassay_001612|calyces, cervical, cervico-thoracic, foregut-midgut junction, hindgut, lobe, lung, midgut, pancreas, pelvis, stomach, vagus X;BrainSpMouseDev|12960	OMIM|126090;HPO|5092|Autosomal recessive inheritance, Generalized hypotonia, Hyperphenylalaninemia, Hypertonia, Motor delay, Transient hyperphenylalaninemia, Tremor
oRG	DFFA	0.444464097	2.98E-09	Chaperone	BrainSpLMD|1676	OMIM|601882
oRG	HES5	0.877261494	2.99E-09	DNA binding protein	Eurexp|euxassay_019477|intermediate grey horn, metanephros, neural retina, olfactory, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|14984	OMIM|607348
oRG	RHOQ	0.951135069	3.00E-09	GTPase		OMIM|605857
oRG	PACRG	1.843875564	3.06E-09	Ubiquitin proteasome system protein	BrainSpLMD|135138;Eurexp|euxassay_007681|4th ventricle, choroid plexus, mantle layer, ventricular layer	OMIM|608427
oRG	RHEB	0.433444897	3.11E-09	GTPase	BrainSpLMD|6009;Eurexp|euxassay_000326|basioccipital bone, basisphenoid bone, dorsal root ganglion, midbrain, nucleus pulposus, olfactory lobe, otic capsule, ventricular layer;BrainSpMouseDev|19507	OMIM|601293
oRG	BBX	0.622295349	3.19E-09	Transcription factor	BrainSpLMD|56987;Eurexp|euxassay_001866|cortex, mantle layer, pituitary, testis, ventricular layer;BrainSpMouseDev|46349	
oRG	RPS27L	0.330044375	3.22E-09	Unclassified	BrainSpLMD|51065;Eurexp|euxassay_013950|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, pancreas, primitive seminiferous tubules, rest of mesenchyme, right lung, skeletal muscle, submandibular gland primordium, thymus primordium, tongue, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|612055
oRG	RP11.138A9.1	1.285178915	3.32E-09			
oRG	CD81	0.417201472	3.34E-09	Enzyme: Oxidase	BrainSpLMD|975;Eurexp|euxassay_012630|choroid plexus, mantle layer, stomach, ventral grey horn, ventricular layer	OMIM|186845;HPO|975|Anal atresia, Autoimmune thrombocytopenia, Autosomal recessive inheritance, Brachycephaly, Bronchiectasis, Chronic otitis media, Decreased antibody level in blood, Elevated hepatic transaminases, Hemolytic anemia, Immunodeficiency, Lymphadenopathy, Lymphopenia, Pneumonia, Purpura, Recurrent bacterial infections, Recurrent bronchitis, Recurrent respiratory infections, Splenomegaly
oRG	ZHX1	1.006057178	3.40E-09	Transcription factor	BrainSpLMD|11244;BrainSpMouseDev|22527	OMIM|604764
oRG	TCEAL1	0.40435884	3.43E-09	Transcription regulatory protein	BrainSpLMD|9338;Eurexp|euxassay_006652|skeletal muscle	OMIM|300237
oRG	GNAO1	0.349148841	3.43E-09	G protein	BrainSpLMD|2775;Eurexp|euxassay_018084|atrium, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, pituitary, spinal cord, stomach, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|139311;HPO|2775|Absent speech, Autosomal dominant inheritance, Cerebral atrophy, Delayed myelination, Epileptic encephalopathy, Generalized tonic seizures, Global developmental delay, Hypoplasia of the corpus callosum, Hypsarrhythmia
oRG	RORA	1.15455284	3.50E-09	Nuclear receptor	BrainSpLMD|6095;Eurexp|euxassay_018175|anterior, dorsal grey horn, external, mantle layer, medulla, thymus primordium, vibrissa;BrainSpMouseDev|19646	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600825
oRG	FERMT2	0.780092104	3.64E-09	Cytoskeletal protein	BrainSpLMD|10979;Eurexp|euxassay_012610|hindgut, metanephros, midgut, stomach, ventricular layer, wall	OMIM|607746
oRG	UFL1	0.640950287	3.71E-09	Unclassified	BrainSpLMD|23376	OMIM|613372
oRG	ATL3	1.052813388	3.71E-09	Unclassified	BrainSpLMD|25923;Eurexp|euxassay_001705|orbito-sphenoid, ventricular layer	OMIM|609369;HPO|25923|Autosomal dominant inheritance, Hallux valgus, Hyperkeratosis, Hyporeflexia of lower limbs, Osteolytic defects of the phalanges of the hand, Osteomyelitis, Sensory axonal neuropathy
oRG	HSP90AA1	0.527132774	3.79E-09	Chaperone	BrainSpLMD|3320;Eurexp|euxassay_010007|cervical, cervico-thoracic, choroid plexus, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, mandible, mantle layer, midgut, molar, neural retina, olfactory, pancreas, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, vagus X, ventral grey horn, ventricular layer, vomeronasal organ	OMIM|140571;COSMIC||NHL
oRG	DNAJA1	0.296579274	3.82E-09	Heat shock protein	BrainSpLMD|3301	OMIM|602837
oRG	LYRM2	0.750734887	3.90E-09	Enzyme: Oxidoreductase	BrainSpLMD|57226	
oRG	UTRN	1.293779774	4.28E-09	Anchor protein	BrainSpLMD|7402;Eurexp|euxassay_013991|bladder, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, primitive seminiferous tubules, rectum, stomach, trigeminal V, urethra	SFARI||Autism, No category;OMIM|128240
oRG	DYNLT1	0.548441648	4.47E-09	Unclassified	BrainSpLMD|6993;Eurexp|euxassay_007062|embryo	OMIM|601554
oRG	RNU1.4	0.687484287	4.47E-09			
oRG	S100B	0.78386794	4.72E-09	Calcium binding protein	BrainSpLMD|6285;BrainSpMouseDev|19966	OMIM|176990
oRG	SLMO2	0.670631465	4.80E-09			
oRG	P4HA1	0.816647119	4.82E-09	Enzyme: Hydroxylase	BrainSpLMD|5033;Eurexp|euxassay_000584|Meckel's cartilage, axial skeleton, chondrocranium, incisor, limb, molar, nasal capsule, pectoral girdle and thoracic body wall	OMIM|176710
oRG	RNF180	0.849018999	4.94E-09	Unclassified	Eurexp|euxassay_010508|dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, lens, medulla, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|616015
oRG	FAXDC2	1.054662698	5.02E-09	Integral membrane protein	BrainSpLMD|10826	
oRG	GLO1	0.674998071	5.03E-09	Enzyme: Lyase	BrainSpLMD|2739	SFARI||Autism, 4 - Minimal evidence;OMIM|138750
oRG	F2R	0.855862181	5.04E-09	G protein coupled receptor	BrainSpLMD|2149;Eurexp|euxassay_009165|mesenchyme	OMIM|187930
oRG	LRIG3	1.162502793	5.24E-09	Unclassified	BrainSpLMD|121227	OMIM|608870;COSMIC||NSCLC
oRG	TULP3	0.68896001	5.40E-09	Transcription regulatory protein	BrainSpLMD|7289	OMIM|604730
oRG	L3MBTL4	0.618204899	5.47E-09	Transcription regulatory protein	BrainSpLMD|91133	OMIM|617135
oRG	CALD1	0.317670733	5.53E-09	Cytoskeletal associated protein	BrainSpLMD|800	OMIM|114213
oRG	CDC73	0.783667046	5.57E-09	Unclassified	BrainSpLMD|79577	OMIM|607393;COSMIC||parathyroid adenoma, parathyroid adenoma, multiple ossifying jaw fibroma;HPO|79577|Autosomal dominant inheritance, Chondrocalcinosis, Dysphagia, Elevated circulating parathyroid hormone level, Fatigue, Fibroma, Generalized osteoporosis, Hoarse voice, Hypercalcemia, Hypercalciuria, Hyperparathyroidism, Hyperphosphaturia, Hypophosphatemia, Infantile hypercalcemia, Nephrocalcinosis, Nephrolithiasis, Osteopenia, Osteoporosis, Parathyroid adenoma, Parathyroid carcinoma, Polydipsia, Primary hyperparathyroidism, Shortened QT interval, Somatic mutation, Uterine leiomyoma, Weight loss
oRG	PPP2R2C	1.42474986	5.82E-09	Serine/threonine phosphatase	BrainSpLMD|5522	OMIM|605997
oRG	TTLL4	1.443590248	5.85E-09	Enzyme: Ligase	BrainSpLMD|9654	
oRG	MPDZ	0.617895257	5.97E-09	Cell junction protein	BrainSpLMD|8777;Eurexp|euxassay_012184|marginal layer, neural retina, olfactory, ventricular layer	OMIM|603785;HPO|8777|Autosomal recessive inheritance, Communicating hydrocephalus, Congenital onset, Cortical gyral simplification, Intellectual disability, Macrocephaly, Seizures
oRG	SAMD8	0.775041368	6.09E-09	Integral membrane protein	BrainSpLMD|142891	OMIM|611575
oRG	SEC62	0.318792096	6.24E-09	Transport/cargo protein	BrainSpLMD|7095	OMIM|602173
oRG	NPC2	0.591119497	6.46E-09	Transport/cargo protein	BrainSpLMD|10577;Eurexp|euxassay_001964|cervical, cervico-thoracic, left lung, mantle layer, marginal layer, right lung, stomach, thoracic, trachea, ventral grey horn, ventricular layer	OMIM|601015;HPO|10577|Abnormal cholesterol homeostasis, Ataxia, Autosomal recessive inheritance, Bone-marrow foam cells, Cataplexy, Dementia, Dysarthria, Dysphagia, Dystonia, Fetal ascites, Foam cells in visceral organs and CNS, Generalized hypotonia, Global developmental delay, Hepatomegaly, Heterogeneous, Intellectual disability, Loss of speech, Low cholesterol esterification rates, Neurofibrillary tangles, Onset, Perseveration, Prolonged neonatal jaundice, Psychosis, Respiratory failure, Sea-blue histiocytosis, Seizures, Spasticity, Splenomegaly, Stereotypy, Vertical supranuclear gaze palsy
oRG	TUBB2A	0.560176558	6.53E-09		BrainSpLMD|7280;Eurexp|euxassay_006726|embryo	OMIM|615101;HPO|7280|Autosomal dominant inheritance, Cortical dysplasia, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Seizures, Variable expressivity
oRG	COL6A1	0.609302461	6.57E-09	Extracellular matrix protein	BrainSpLMD|1291;BrainSpMouseDev|12616	OMIM|120220;HPO|1291|Abnormality of the cardiovascular system, Abnormality of the palate, Adducted thumb, Ankle contracture, Autosomal dominant inheritance, Autosomal recessive inheritance, Cachexia, Camptodactyly of finger, Congenital muscular dystrophy, Congenital muscular torticollis, Decreased fetal movement, Diaphragmatic weakness, Distal muscle weakness, EMG abnormality, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated serum creatine phosphokinase, Esotropia, Facial palsy, Failure to thrive, Feeding difficulties in infancy, Flexion contracture, Follicular hyperkeratosis, Frequent falls, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, High palate, Hip dislocation, Hyperextensibility at wrists, Hyperhidrosis, Increased endomysial connective tissue, Increased laxity of ankles, Increased laxity of fingers, Increased variability in muscle fiber diameter, Infantile onset, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphosis, Limb-girdle muscle weakness, Long toe, Micrognathia, Mildly elevated creatine phosphokinase, Motor delay, Muscle fiber necrosis, Myopathy, Neonatal hypotonia, Nocturnal hypoventilation, Pes valgus, Progressive, Protruding ear, Proximal muscle weakness, Recurrent lower respiratory tract infections, Respiratory failure, Respiratory insufficiency due to muscle weakness, Round face, Scoliosis, Short neck, Skeletal muscle atrophy, Slender build, Slender finger, Slow progression, Spinal rigidity, Talipes equinovarus, Torticollis, Type 1 muscle fiber predominance, Variable expressivity
oRG	CTNND1	0.450944711	6.88E-09	Adhesion molecule	BrainSpLMD|1500;BrainSpMouseDev|12173	OMIM|601045;COSMIC||large intestine carcinoma
oRG	PRDX5	0.699523297	6.97E-09	Enzyme: Oxidoreductase	BrainSpLMD|25824	OMIM|606583
oRG	KIAA1147	1.034791937	7.08E-09	Unclassified	BrainSpLMD|57189;Eurexp|euxassay_008076|mantle layer, ventricular layer	
oRG	ADH5	1.023912486	7.43E-09	Enzyme: Oxidoreductase	BrainSpLMD|128;Eurexp|euxassay_006991|embryo	OMIM|103710
oRG	HEY1	0.62278345	7.57E-09	Transcription factor	BrainSpLMD|23462;Eurexp|euxassay_005307|calyces, mandible, maxilla, olfactory, orbito-sphenoid, pituitary, respiratory, thymus primordium, ventricular layer;BrainSpMouseDev|14989	OMIM|602953;COSMIC||mesenchymal chondrosarcoma
oRG	TMBIM4	0.645906939	7.81E-09	Integral membrane protein;Unclassified	BrainSpLMD|51643;Eurexp|euxassay_009275|embryo	OMIM|616874
oRG	TCTN3	0.758427464	7.94E-09	Integral membrane protein	BrainSpLMD|26123;Eurexp|euxassay_011590|choroid invagination, choroid plexus, olfactory, roof plate	OMIM|613847;HPO|26123|Abnormality of eye movement, Abnormality of oral frenula, Abnormality of the gingiva, Abnormality of the tongue, Absent testis, Accessory oral frenulum, Aplasia/Hypoplasia of the tibia, Autosomal recessive inheritance, Bifid uvula, Brachydactyly, Camptodactyly, Camptodactyly of finger, Cerebral atrophy, Cerebral cortical hemiatrophy, Choanal atresia, Cleft palate, Clinodactyly, Conductive hearing impairment, Decreased testicular size, Depressed nasal ridge, Epicanthus, Failure to thrive, Feeding difficulties, Finger syndactyly, Foot polydactyly, Genu varum, Global developmental delay, Hamartoma, Hamartoma of tongue, Hand polydactyly, High palate, High, narrow palate, Horseshoe kidney, Hypertelorism, Intellectual disability, Intrauterine growth retardation, Joint dislocation, Joint laxity, Kyphoscoliosis, Laryngomalacia, Lobulated tongue, Low-set ears, Median cleft lip, Microcephaly, Micrognathia, Micromelia, Microtia, third degree, Molar tooth sign on MRI, Monorchism, Oligohydramnios, Oral synechia, Pectus excavatum, Phenotypic variability, Polydactyly, Porencephalic cyst, Postaxial hand polydactyly, Posteriorly rotated ears, Preaxial hand polydactyly, Proptosis, Recurrent respiratory infections, Retrognathia, Severe short stature, Short finger, Short nose, Short stature, Short tibia, Specific learning disability, Split hand, Subcortical cerebral atrophy, Submucous cleft hard palate, Toe syndactyly, Tongue nodules, Ventricular septal defect, Wide nose
oRG	GSTK1	1.062909598	8.01E-09	Enzyme: Glutathione transferase	BrainSpLMD|373156	OMIM|602321
oRG	UBL3	0.851057239	8.03E-09	Ubiquitin proteasome system protein	BrainSpLMD|5412	OMIM|604711
oRG	PTPLAD1	0.40460781	8.16E-09			
oRG	FAM63B	0.746640379	8.35E-09			
oRG	NUCB1	1.398017779	8.38E-09	Calcium binding protein		OMIM|601323
oRG	PPP1R12A	0.262442473	8.56E-09	Regulatory/other subunit	BrainSpLMD|4659	OMIM|602021
oRG	ARHGAP1	0.347273142	8.56E-09	GTPase activating protein	BrainSpLMD|392	OMIM|602732
oRG	PDIA6	0.937624643	8.70E-09	Enzyme: Isomerase	BrainSpLMD|10130	OMIM|611099
oRG	ST5	0.752077289	8.78E-09	Unclassified	BrainSpLMD|6764	OMIM|140750
oRG	AK4	1.211783096	8.97E-09	Enzyme: Phosphotransferase	BrainSpLMD|205;Eurexp|euxassay_010883|clavicle, hindgut, incisor, midgut, molar, olfactory, rectum, stomach	OMIM|103030
oRG	POLR2L	0.400515141	9.16E-09	RNA polymerase	BrainSpLMD|5441;Eurexp|euxassay_019574|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, liver, lung, midgut, nucleus pulposus, oesophagus, pancreas, stomach, submandibular gland primordium, testis, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|601189
oRG	PAWR	0.804442303	9.35E-09	Transcription regulatory protein	BrainSpLMD|5074;Eurexp|euxassay_014184|bladder, floor plate, floorplate, left lung, neural retina, olfactory, right lung, submandibular gland primordium, urethra, ventricular layer;BrainSpMouseDev|77498	OMIM|601936
oRG	AC007228.9	0.837377524	9.41E-09			
oRG	TMEM67	1.268052301	9.64E-09	Unclassified	BrainSpLMD|91147	OMIM|609884;HPO|91147|Anemia, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Blindness, Breathing dysregulation, Cataract, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cirrhosis, Cleft palate, Coloboma, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Elevated hepatic transaminases, Elongated superior cerebellar peduncle, Encephalocele, Enlarged fossa interpeduncularis, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Heterogeneous, Hyperreflexia, Hypertelorism, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intrahepatic biliary atresia, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Multiple small medullary renal cysts, Muscular hypotonia, Nephronophthisis, Nephropathy, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic nerve coloboma, Polydactyly, Polydipsia, Polyuria, Portal hypertension, Postaxial foot polydactyly, Postaxial hand polydactyly, Ptosis, Renal corticomedullary cysts, Renal insufficiency, Retinal degeneration, Round face, Sclerocornea, Sloping forehead, Spasticity, Splenomegaly, Stage 5 chronic kidney disease, Talipes, Thickened superior cerebellar peduncle, Tubular atrophy, Tubular basement membrane disintegration, Visual impairment, Wide mouth
oRG	MTMR11	0.812858051	9.76E-09	Lipid phosphatase	BrainSpLMD|10903	
oRG	CASP3	0.914105133	9.81E-09	Cysteine protease	BrainSpLMD|836;Eurexp|euxassay_018739|mantle layer, olfactory, vomeronasal organ;BrainSpMouseDev|12152	OMIM|600636
oRG	GNAQ	0.376629339	1.04E-08	G protein	BrainSpLMD|2776	OMIM|600998;COSMIC||uveal melanoma, primary central nervous system melanocytic neoplasms;HPO|2776|Arachnoid hemangiomatosis, Arteriovenous malformation, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Buphthalmos, Capillary hemangiomas, Cerebral cortical atrophy, Choroidal hemangioma, Choroidal melanoma, Ciliary body melanoma, Facial hemangioma, Glaucoma, Hypermelanotic macule, Hyperreflexia, Intellectual disability, Iris melanoma, Macrocephaly, Nevus flammeus, Optic atrophy, Papule, Retinal detachment, Seizures, Sporadic, Strabismus, Stroke, Visual loss
oRG	PEG10	0.478878589	1.05E-08	Cell cycle control protein	BrainSpLMD|23089;BrainSpMouseDev|81989	OMIM|609810
oRG	PXDN	0.354873765	1.10E-08	Enzyme: Peroxidase		SFARI||Autism, No category;OMIM|605158;HPO|7837|Abnormality of the outer ear, Autosomal recessive inheritance, Sclerocornea
oRG	TAOK3	0.480284278	1.12E-08	Serine/threonine kinase	BrainSpLMD|51347	OMIM|616711
oRG	SULT1C4	1.231812386	1.14E-08	Enzyme: Sulphotransferase	BrainSpLMD|27233	OMIM|608357
oRG	EXTL2	0.522359263	1.17E-08	Enzyme: Glycosyltransferase	BrainSpLMD|2135	OMIM|602411
oRG	CBX6	0.254603642	1.19E-08	DNA binding protein	BrainSpLMD|23466	OMIM|617438
oRG	CXCR4	0.497582163	1.19E-08	G protein coupled receptor	BrainSpLMD|7852;Eurexp|euxassay_006007|cervical, cervico-thoracic, corpus striatum, incisor, mantle layer, mitral valve, molar, neural retina, olfactory, thoracic, thymus primordium, valve, ventricular layer, vibrissa;BrainSpMouseDev|12551	OMIM|162643;COSMIC||WM;HPO|7852|Abnormality of female external genitalia, Abnormality of female internal genitalia, Autosomal dominant inheritance, Bone marrow hypercellularity, Bronchiectasis, Decreased antibody level in blood, IgG deficiency, Infantile onset, Myelokathexis, Neutropenia, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Verrucae
oRG	NIPSNAP3A	0.970804397	1.19E-08	Transport/cargo protein	BrainSpLMD|25934	OMIM|608871
oRG	CYSTM1	1.088331065	1.22E-08	Unclassified	BrainSpLMD|84418	
oRG	REEP3	0.540187665	1.23E-08	Unclassified	BrainSpLMD|221035;Eurexp|euxassay_004457|digit 1, digit 2, digit 3, digit 4, digit 5, footplate, handplate, lower leg, trigeminal V, valve, ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|609348
oRG	KIAA1033	0.439526592	1.32E-08			
oRG	TMTC2	0.403530403	1.36E-08	Integral membrane protein	BrainSpLMD|160335;Eurexp|euxassay_011308|axial skeleton, bladder, brain, capsule, clavicle, cornea, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, hindgut, mandible, maxilla, midgut, oesophagus, olfactory, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, rib, skeletal muscle, spinal cord, stomach, tibia, trigeminal V, ureter, vagus X, valve, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|615856
oRG	RP11.222A11.1	1.619436631	1.37E-08			
oRG	SRGAP3	0.331065272	1.40E-08	GTPase activating protein	BrainSpLMD|9901	SFARI||Autism, 4 - Minimal evidence;OMIM|606525;COSMIC||pilocytic astrocytoma
oRG	HSPA8	0.614618014	1.43E-08	Heat shock protein	BrainSpLMD|3312	OMIM|600816
oRG	HRSP12	1.044683906	1.49E-08			
oRG	HADHA	0.452759424	1.53E-08	Enzyme: Dehydrogenase	BrainSpLMD|3030	OMIM|600890;HPO|3030|Abnormality of the amniotic fluid, Autosomal recessive inheritance, Cardiomyopathy, Congestive heart failure, Decreased activity of 3-hydroxyacyl-CoA dehydrogenase, Dilated cardiomyopathy, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Generalized muscle weakness, Global developmental delay, Hepatomegaly, Hydrops fetalis, Hyperammonemia, Hypoglycemia, Hypoketotic hypoglycemia, Lactic acidosis, Muscular hypotonia, Myalgia, Myoglobinuria, Peripheral neuropathy, Pigmentary retinopathy, Prenatal maternal abnormality, Respiratory failure, Rhabdomyolysis, Small for gestational age, Sudden death
oRG	EIF2AK2	0.456946569	1.53E-08	Serine/threonine kinase	BrainSpLMD|5610	OMIM|176871
oRG	STARD3NL	0.731929004	1.55E-08	Integral membrane protein	BrainSpLMD|83930;Eurexp|euxassay_012114|Meckel's cartilage, arytenoid, axial skeleton, basioccipital bone, basisphenoid bone, cricoid, femur, fibula, humerus, hyoid bone, metacarpus, metatarsus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, sternum, tarsus, thyroid, tibia, turbinate bones, ulna, vault of skull	OMIM|611759
oRG	ATP6AP2	0.284720915	1.62E-08	Cell surface receptor	BrainSpLMD|10159	OMIM|300556;HPO|10159|Action tremor, Agraphesthesia, Astereognosia, Autosomal recessive inheritance, Babinski sign, Bradykinesia, Cerebellar atrophy, Cerebral atrophy, Cogwheel rigidity, Delayed speech and language development, Gait disturbance, Generalized tonic-clonic seizures, Hypomimic face, Hypoplasia of the corpus callosum, Hyporeflexia, Infantile onset, Intellectual disability, Motor delay, Parkinsonism, Resting tremor, Slow progression, Variable expressivity, X-linked recessive inheritance
oRG	UFSP2	0.28216766	1.63E-08	Protease	BrainSpLMD|55325;Eurexp|euxassay_002185|orbito-sphenoid, turbinate	OMIM|611482;HPO|55325|Abnormal ossification involving the femoral head and neck, Abnormality of bone mineral density, Abnormality of the epiphysis of the femoral head, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Broad femoral neck, Childhood onset, Flat capital femoral epiphysis, Hip dysplasia, Irregular capital femoral epiphysis, Osteoarthritis, Shallow acetabular fossae, Wide proximal femoral metaphysis
oRG	DHRS7	0.607005178	1.71E-08	Enzyme: Dehydrogenase	BrainSpLMD|51635;Eurexp|euxassay_000191|alveolar sulcus, dorsal mesocardium, left atrium, mantle layer, marginal layer, ventricular layer	OMIM|612833
oRG	PCGF5	1.223594806	1.71E-08	Ubiquitin proteasome system protein	BrainSpLMD|84333	OMIM|617407
oRG	PCNP	0.273754296	1.85E-08	Ubiquitin proteasome system protein	BrainSpLMD|57092	OMIM|615210
oRG	CYP51A1P2	0.583431263	1.87E-08			
oRG	CHST10	1.307809782	1.88E-08	Enzyme: Sulphotransferase	BrainSpLMD|9486	OMIM|606376
oRG	GPC1	1.387418477	1.90E-08	Cell surface receptor	BrainSpLMD|2817;Eurexp|euxassay_007466|cervical, cervico-thoracic, clavicle, cochlea, diaphragm, dorsal root ganglion, exoccipital bone, extrinsic ocular muscle, facial VII, femur, fibula, glossopharyngeal IX, humerus, incisor, lip, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, neural retina, nucleus pulposus, olfactory, orbito-sphenoid, pancreas, pelvic girdle, radius, rest of mesenchyme, rib, saccule, skeletal muscle, sternum, stomach, submandibular gland primordium, thoracic, thymus primordium, tibia, trigeminal V, ulna, vagus X, valve, vault of skull, ventral grey horn, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|600395
oRG	ATP10D	0.284564827	1.91E-08	ATPase	BrainSpLMD|57205	
oRG	DNASE2	0.872370968	1.97E-08	Deoxyribonuclease	BrainSpLMD|1777;Eurexp|euxassay_018821|olfactory, vibrissa	OMIM|126350
oRG	ANAPC16	0.287530999	2.03E-08	Unclassified	BrainSpLMD|119504	OMIM|613427
oRG	LINC00657	0.489257729	2.03E-08			
oRG	SAMD4A	1.051572077	2.11E-08	Unclassified	BrainSpLMD|23034	OMIM|610747
oRG	STK17A	1.271026068	2.27E-08	Serine/threonine kinase	BrainSpLMD|9263	OMIM|604726
oRG	LRRC1	0.530836557	2.28E-08	Unclassified	BrainSpLMD|55227	SFARI||Autism, 4 - Minimal evidence;OMIM|608195
oRG	COMMD1	0.340702595	2.29E-08	Unclassified	BrainSpLMD|150684	OMIM|607238
oRG	RNY1	0.550141166	2.29E-08			OMIM|601821
oRG	ANAPC11	0.528554337	2.29E-08	Enzyme: Ligase	BrainSpLMD|51529	OMIM|614534
oRG	RFXANK	1.149497565	2.32E-08	Transcription factor	BrainSpLMD|8625	OMIM|603200;HPO|8625|Agammaglobulinemia, Autosomal dominant inheritance, Autosomal recessive inheritance, Biliary tract abnormality, Chronic lymphocytic meningitis, Chronic mucocutaneous candidiasis, Colitis, Cutaneous anergy, Encephalitis, Failure to thrive, Malabsorption, Neutropenia, Panhypogammaglobulinemia, Protracted diarrhea, Recurrent bacterial infections, Recurrent fungal infections, Recurrent lower respiratory tract infections, Recurrent protozoan infections, Recurrent upper respiratory tract infections, Recurrent urinary tract infections, Recurrent viral infections, Villous atrophy, Viral hepatitis
oRG	PHF11	1.545353197	2.34E-08	DNA binding protein	BrainSpLMD|51131;Eurexp|euxassay_003051|axial muscle, incisor, orbito-sphenoid, submandibular gland primordium, thymus primordium, vibrissa	OMIM|607796
oRG	FAM134B	0.798098176	2.36E-08			
oRG	RRNAD1	0.360793993	2.43E-08	Unclassified	BrainSpLMD|51093	
oRG	GPC4	0.917415723	2.55E-08	Integral membrane protein	BrainSpLMD|2239;Eurexp|euxassay_004882|aorta, bladder, clavicle, cochlea, diaphragm, dorsal grey horn, extrinsic ocular muscle, handplate, hindgut, lung, mandible, mantle layer, maxilla, maxillary division, medulla, mesenchyme, metanephros, midgut, pancreas, penis, pharyngo-tympanic tube, skeletal muscle, sternum, stomach, submandibular gland primordium, testis, thymus primordium, ventral grey horn, ventricular layer, vertebral axis muscle system	SFARI||Autism, 3 - Suggestive evidence;OMIM|300168;HPO|2239|2-3 finger syndactyly, Abnormal lung lobation, Abnormality of the helix, Abnormality of the ribs, Accelerated skeletal maturation, Agenesis of corpus callosum, Anteverted nares, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Birth length greater than 97th percentile, Broad foot, Broad palm, Broad secondary alveolar ridge, Broad thumb, Broad toe, Bundle branch block, Camptodactyly of finger, Cardiomyopathy, Cerebellar vermis hypoplasia, Cervical ribs, Cleft palate, Clinodactyly of the 5th finger, Coarse facial features, Congenital diaphragmatic hernia, Cryptorchidism, Death in infancy, Dental malocclusion, Depressed nasal bridge, Diastasis recti, Downslanted palpebral fissures, Duplication of renal pelvis, Enlarged kidney, Epicanthus, Finger syndactyly, Flared iliac wings, Generalized hypotonia, Hearing impairment, Hepatomegaly, Heterogeneous, High, narrow palate, Hydrocephalus, Hydronephrosis, Hydroureter, Hypertelorism, Hypoglycemia, Hypospadias, Increased IgE level, Inguinal hernia, Intestinal malrotation, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Mandibular prognathia, Meckel diverticulum, Multicystic kidney dysplasia, Nail dysplasia, Narrow sacroiliac notch, Nephroblastoma, Neurological speech impairment, Omphalocele, Pancreatic islet-cell hyperplasia, Patent ductus arteriosus, Pectus excavatum, Polyhydramnios, Polysplenia, Postaxial hand polydactyly, Posterior helix pit, Preauricular pit, Preauricular skin tag, Prolonged QT interval, Pulmonic stenosis, Renal cyst, Scoliosis, Short 2nd finger, Short distal phalanx of finger, Short foot, Short neck, Short nose, Short palm, Short sacroiliac notch, Short toe, Six lumbar vertebrae, Small nail, Somatic mutation, Splenomegaly, Submucous cleft lip, Supernumerary nipple, Talipes equinovarus, Tall stature, Toe syndactyly, Transposition of the great arteries, Two carpal ossification centers present at birth, Umbilical hernia, Ureteral duplication, Ventricular septal defect, Vertebral fusion, Vertebral segmentation defect, Webbed neck, Wide mouth, Wide nasal bridge, X-linked recessive inheritance
oRG	NES	0.529188384	2.56E-08	Cytoskeletal protein	BrainSpLMD|10763;Eurexp|euxassay_017860|calyces, diaphragm, head mesenchyme, meninges, mesenchyme, skeletal muscle, tongue, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|17775	OMIM|600915
oRG	ELOVL5	0.737862611	2.60E-08	Unclassified	BrainSpLMD|60481	OMIM|611805;HPO|60481|Autosomal dominant inheritance, Cerebellar atrophy, Dysarthria, Gait ataxia, Limb ataxia, Nystagmus, Slow progression, Slow saccadic eye movements
oRG	GSTM5	0.964599478	2.65E-08	Enzyme: Glutathione transferase	BrainSpLMD|2949;Eurexp|euxassay_018918|foregut-midgut junction, liver, lobe, midgut, nucleus pulposus, olfactory, pancreas, renal/urinary system, stomach, testis, thymus primordium, ventral grey horn, ventricular layer	OMIM|138385
oRG	ANXA7	0.711468203	2.69E-08	Calcium binding protein	BrainSpLMD|310	OMIM|186360
oRG	LYRM5	0.902629301	2.74E-08			
oRG	FKBP2	0.984089303	2.76E-08	Enzyme: Isomerase	BrainSpLMD|2286	OMIM|186946
oRG	TMEM184B	0.734308293	2.81E-08	Unclassified	BrainSpLMD|25829	
oRG	SGSM2	0.596300578	2.82E-08	Unclassified	BrainSpLMD|9905	OMIM|611418
oRG	CLEC2D	0.936034105	2.96E-08	Cell surface receptor	BrainSpLMD|29121	OMIM|605659
oRG	PHPT1	0.463147578	3.00E-08	Enzyme: Phosphatase	BrainSpLMD|29085	OMIM|610167
oRG	PMM1	0.558017279	3.07E-08	Enzyme: Mutase	BrainSpLMD|5372;Eurexp|euxassay_011907|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X	OMIM|601786
oRG	TOR1AIP2	0.309836253	3.22E-08	Unclassified	BrainSpLMD|163590	OMIM|614513
oRG	SLC48A1	0.850651744	3.25E-08	Transport/cargo protein	BrainSpLMD|55652	OMIM|612187
oRG	CYBRD1	1.172960932	3.29E-08	Enzyme: Oxidoreductase	BrainSpLMD|79901;Eurexp|euxassay_009953|ventricular layer	OMIM|605745
oRG	ZDHHC2	0.885884852	3.38E-08	Integral membrane protein	BrainSpLMD|51201;Eurexp|euxassay_000126|abducent VI, accessory XI, autonomic, basal plate, cervico-thoracic, corpus striatum, cranial, diencephalon, dorsal root ganglion, facial VII, gland, glossopharyngeal IX, hypoglossal XII, hypothalamus, inferior, lamina terminalis, lateral wall, mandibular division, mantle layer, maxillary division, nerve plexus, oculomotor III, olfactory I, olfactory cortex, olfactory lobe, ophthalmic division, optic II, parasympathetic, spinal cord, sulcus limitans, sympathetic, tegmentum, thalamus, thoracic, trigeminal V, trochlear IV, vagus X, vestibulocochlear VIII;BrainSpMouseDev|46387	
oRG	ZCCHC24	1.251809535	3.39E-08	DNA binding protein	BrainSpLMD|219654	
oRG	SESN3	0.566664254	3.52E-08	Cell cycle control protein	BrainSpLMD|143686	OMIM|607768
oRG	TMEM66	0.45761989	3.54E-08			
oRG	PLEC	0.664849591	3.57E-08	Anchor protein	BrainSpLMD|5339	OMIM|601282;HPO|5339|Abnormal blistering of the skin, Abnormality of dental enamel, Abnormality of the genitourinary system, Abnormality of the stomach, Alopecia, Anemia, Anonychia, Aphasia, Aplasia cutis congenita, Aplasia of the bladder, Arthrogryposis multiplex congenita, Atrophic scars, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary pterygia, Bruising susceptibility, Carious teeth, Congenital onset, Congenital pyloric atresia, Death in infancy, Deeply set eye, Dehydration, Dermal atrophy, Difficulty climbing stairs, Dysphagia, Dysphasia, Echolalia, Ectropion, Elevated maternal serum alpha-fetoprotein, Elevated serum creatine phosphokinase, Esophageal atresia, Failure to thrive, Flexion contracture, Fragile skin, Generalized muscle weakness, Glomerulosclerosis, Gowers sign, Hydronephrosis, Hyperconvex fingernails, Hypoplasia of dental enamel, Hypoplastic fingernail, Increased connective tissue, Intractable diarrhea, Junctional split, Keratitis, Limitation of joint mobility, Lumbar hyperlordosis, Microtia, Milia, Motor delay, Muscle flaccidity, Muscular dystrophy, Mutism, Myopathy, Nail dysplasia, Nail dystrophy, Neonatal respiratory distress, Oculomotor nerve palsy, Onychogryposis of toenails, Ophthalmoplegia, Oral mucosal blisters, Palmoplantar hyperkeratosis, Papule, Plantar hyperkeratosis, Polyhydramnios, Premature birth, Ptosis, Punctate keratitis, Rapidly progressive, Renal dysplasia, Scarring alopecia of scalp, Sepsis, Short stature, Skeletal muscle atrophy, Skin erosion, Skin fragility with non-scarring blistering, Skin vesicle, Thick nail, Underdeveloped nasal alae, Ureterocele, Urethral stricture
oRG	NUDT4	0.607262525	3.59E-08	Unclassified	BrainSpLMD|11163	OMIM|609229
oRG	C1orf85	1.200467957	3.67E-08			
oRG	PEG3	0.343387574	3.70E-08	Transcription factor	BrainSpLMD|5178	OMIM|601483
oRG	LAMP1	0.891083362	3.84E-08	Integral membrane protein	BrainSpLMD|3916;Eurexp|euxassay_015957|dorsal root ganglion, floor plate, floorplate, glossopharyngeal IX, mandible, maxilla, neural retina, orbito-sphenoid, sternum, trigeminal V, ventral grey horn, ventricular layer	OMIM|153330
oRG	TMED7	1.017161293	3.88E-08	Unclassified		
oRG	PDZD8	0.53120914	3.95E-08	Unclassified	BrainSpLMD|118987	OMIM|614235
oRG	TCF7L1	1.1922246	4.06E-08	Transcription regulatory protein	BrainSpLMD|83439;BrainSpMouseDev|21176	OMIM|604652
oRG	PPT1	0.901593621	4.18E-08	Enzyme: Hydrolase	BrainSpLMD|5538;Eurexp|euxassay_018600|primitive seminiferous tubules, thymus primordium, ventricular layer	OMIM|600722;HPO|5538|Abnormality of metabolism/homeostasis, Ataxia, Autosomal recessive inheritance, Blindness, Cerebral atrophy, Decreased light- and dark-adapted electroretinogram amplitude, Depressivity, EEG abnormality, Flexion contracture, Generalized hypotonia, Global developmental delay, Hallucinations, Increased neuronal autofluorescent lipopigment, Intellectual disability, Irritability, Loss of speech, Macular degeneration, Myoclonus, Onset, Optic atrophy, Postnatal microcephaly, Progressive microcephaly, Progressive visual loss, Psychomotor deterioration, Retinal degeneration, Seizures, Sleep disturbance, Spasticity, Undetectable electroretinogram
oRG	GLUL	0.292288901	4.20E-08	Enzyme: Aminotransferase	BrainSpLMD|2752;BrainSpMouseDev|14421	OMIM|138290;HPO|2752|Apnea, Autosomal recessive inheritance, Bradycardia, Brain atrophy, CNS hypomyelination, Depressed nasal bridge, Encephalopathy, Generalized hypotonia, Hyperammonemia, Hyperreflexia, Hypoplasia of the corpus callosum, Low-set ears, Periventricular cysts, Respiratory insufficiency, Seizures, Severe global developmental delay, Skin rash, Subependymal cysts, Ventriculomegaly, Wide nasal bridge
oRG	FGFR2	0.68291773	4.23E-08	Receptor tyrosine kinase	BrainSpLMD|2263;BrainSpMouseDev|13960	OMIM|176943;COSMIC||gastric, NSCLC, endometrial, Crouzon, Pfeiffer, and Apert syndromes;HPO|2263|2-3 finger syndactyly, 2-3 toe syndactyly, Abnormal facial shape, Abnormal heart morphology, Abnormal morphology of the limbic system, Abnormal renal morphology, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the cervical spine, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the palate, Abnormality of the pancreas, Abnormality of the periosteum, Abnormality of the pinna, Abnormality of the ribs, Absence of Stensen duct, Absent first metatarsal, Absent lacrimal punctum, Absent proximal phalanx of thumb, Absent radius, Absent septum pellucidum, Acanthosis nigricans, Acne, Acrobrachycephaly, Agenesis of corpus callosum, Alacrima, Anomalous tracheal cartilage, Anteriorly placed anus, Anteverted nares, Aplasia of the parotid gland, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Arachnodactyly, Arachnoid cyst, Arnold-Chiari malformation, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bicoronal synostosis, Bifid scrotum, Bifid uvula, Bilateral single transverse palmar creases, Bilateral triphalangeal thumbs, Blepharospasm, Brachycephaly, Brachydactyly, Brachyturricephaly, Breast carcinoma, Broad distal hallux, Broad distal phalanx of the thumb, Broad forehead, Broad hallux, Broad hallux phalanx, Broad metatarsal, Broad thumb, Bronchomalacia, Buphthalmos, Calcaneonavicular fusion, Camptodactyly, Camptodactyly of finger, Carious teeth, Cartilaginous trachea, Cerebellar hypoplasia, Cervical C5/C6 vertebrae fusion, Choanal atresia, Choanal stenosis, Chronic otitis media, Cleft of chin, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Cloverleaf skull, Conductive hearing impairment, Congenital stationary night blindness, Conical incisor, Conjunctivitis, Convex nasal ridge, Corneal perforation, Coronal craniosynostosis, Coronal hypospadias, Craniofacial dysostosis, Craniosynostosis, Cryptorchidism, Cupped ear, Cutaneous finger syndactyly, Dacryocystitis, Decreased calvarial ossification, Delayed cranial suture closure, Delayed eruption of primary teeth, Delayed eruption of teeth, Dental crowding, Dental malocclusion, Depressed nasal bridge, Deviation of the thumb, Dolichocephaly, Downslanted palpebral fissures, Dysgerminoma, Ectopic anus, Elbow ankylosis, Esophageal atresia, External ear malformation, Extramedullary hematopoiesis, Facial asymmetry, Feeding difficulties in infancy, Femoral bowing, Finger syndactyly, Flat face, Flat forehead, Frontal bossing, Fused labia minora, Gingival overgrowth, Global developmental delay, Growth abnormality, Hallux valgus, Hallux varus, Hearing abnormality, Hearing impairment, High forehead, High palate, Hirsutism, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hyperextensible skin, Hyperlordosis, Hypertelorism, Hypertension, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the lacrimal puncta, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplasia of the zygomatic bone, Hypoplastic ischia, Hypoplastic labia majora, Hypoplastic lacrimal duct, Incomplete ossification of pubis, Increased intracranial pressure, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Joint stiffness, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Lambdoidal craniosynostosis, Large fontanelles, Laryngomalacia, Limitation of joint mobility, Limited elbow extension, Long nose, Long philtrum, Low anterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Malar flattening, Mandibular prognathia, Megalencephaly, Megalocornea, Melanocytic nevus, Metopic depression, Micrognathia, Microtia, Midface retrusion, Mixed hearing impairment, Morphological abnormality of the semicircular canal, Multiple suture craniosynostosis, Narrow chest, Narrow internal auditory canal, Narrow nose, Narrow palate, Narrow pelvis bone, Nasolacrimal duct obstruction, Natal tooth, Nephrosclerosis, Open bite, Optic atrophy, Osteopenia, Overfolding of the superior helices, Overriding aorta, Oxycephaly, Palmoplantar cutis gyrata, Palmoplantar cutis laxa, Palmoplantar keratoderma, Parietal foramina, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of the distal phalanx of the 3rd finger, Partial duplication of thumb phalanx, Periorbital fullness, Plagiocephaly, Posterior fossa cyst, Preauricular skin furrow, Preaxial polydactyly, Prominent crus of helix, Prominent nasal bridge, Prominent scrotal raphe, Proptosis, Ptosis, Pyloric stenosis, Radial deviation of the 3rd finger, Radioulnar synostosis, Recurrent corneal erosions, Reduced number of teeth, Renal agenesis, Respiratory distress, Rocker bottom foot, Sagittal craniosynostosis, Seizures, Shallow orbits, Short clavicles, Short foot, Short hallux, Short metatarsal, Short middle phalanx of toe, Short nose, Short palm, Short stature, Shortening of all middle phalanges of the fingers, Skull asymmetry, Sleep apnea, Small hand, Small nail, Small thenar eminence, Somatic mutation, Steep acetabular roof, Stenosis of the external auditory canal, Stomach cancer, Strabismus, Subcutaneous nodule, Syndactyly, Synostosis of carpal bones, Telecanthus, Toe syndactyly, Tracheomalacia, Turricephaly, Ulnar bowing, Underdeveloped supraorbital ridges, Upper airway obstruction, Vaginal atresia, Variable expressivity, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide anterior fontanel, Xerostomia
oRG	POLR2G	0.296208705	4.29E-08	RNA polymerase	BrainSpLMD|5436	OMIM|602013
oRG	GPR155	0.836737775	4.35E-08	G protein coupled receptor	BrainSpLMD|151556	
oRG	RIT1	0.522967816	4.36E-08	GTPase	BrainSpLMD|6016;Eurexp|euxassay_012013|Meckel's cartilage, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, orbito-sphenoid, petrous part, rib, scapula, tibia, turbinate	OMIM|609591;HPO|6016|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of the spleen, Abnormality of the sternum, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Coarse hair, Cryptorchidism, Curly hair, Cystic hygroma, Delayed skeletal maturation, Downslanted palpebral fissures, Dysarthria, Enlarged thorax, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Hepatomegaly, High forehead, High palate, Hyperkeratosis, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadotrophic hypogonadism, Joint hyperflexibility, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Micrognathia, Midface retrusion, Muscle weakness, Muscular hypotonia, Pectus carinatum, Pectus excavatum, Polyhydramnios, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Relative macrocephaly, Scoliosis, Short neck, Short stature, Strabismus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Triangular face, Ventricular septal defect, Webbed neck, Wide intermamillary distance
oRG	SYNE1	0.554552445	4.39E-08	Unclassified	BrainSpLMD|23345	SFARI||Autism, 4 - Minimal evidence;OMIM|608441;HPO|23345|Adult onset, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Childhood onset, Dysarthria, Dysmetria, Elevated serum creatine phosphokinase, Gait ataxia, Left ventricular septal hypertrophy, Limb ataxia, Muscular dystrophy, Neck muscle weakness, Nystagmus, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Slow progression
oRG	PLEKHA5	0.617189173	4.43E-08	Adapter molecule	BrainSpLMD|54477;Eurexp|euxassay_005649|basal plate, calyces, cervical, cervico-thoracic, cochlear component, dorsal root ganglion, facial VII, glossopharyngeal IX, inferior, intraventricular portion, mantle layer, metanephros, pelvis, stomach, superior, thoracic, trigeminal V, vagus X, vestibular component	OMIM|607770
oRG	ARHGAP12	0.92105245	4.47E-08	GTPase activating protein	BrainSpLMD|94134;Eurexp|euxassay_008610|axial skeleton, basioccipital bone, basisphenoid bone, bladder, brain, dorsal root ganglion, facial VII, femur, glossopharyngeal IX, midgut, neural retina, olfactory, pelvic girdle, spinal cord, stomach, trigeminal V, vestibulocochlear VIII	OMIM|610577
oRG	MMAB	0.987746795	4.57E-08	Enzyme: Adenosyltransferase	BrainSpLMD|326625	OMIM|607568;HPO|326625|Anemia, Autosomal recessive inheritance, Coma, Decreased adenosylcobalamin, Decreased methylmalonyl-CoA mutase activity, Dehydration, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Ketonuria, Ketosis, Lethargy, Metabolic acidosis, Methylmalonic acidemia, Methylmalonic aciduria, Neonatal onset, Neutropenia, Pancytopenia, Respiratory distress, Thrombocytopenia, Vomiting
oRG	TAGLN2P1	0.306856605	4.60E-08			
oRG	GATAD1	0.290461962	4.62E-08	Transcription regulatory protein	BrainSpLMD|57798;BrainSpMouseDev|43053	OMIM|614518;HPO|57798|Autosomal recessive inheritance, Congestive heart failure, Dilated cardiomyopathy
oRG	HGSNAT	0.620859094	4.64E-08	Transport/cargo protein	BrainSpLMD|138050	OMIM|610453;HPO|138050|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Asymmetric septal hypertrophy, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Cellular metachromasia, Coarse facial features, Coarse hair, Conductive hearing impairment, Constriction of peripheral visual field, Dense calvaria, Diarrhea, Dolichocephaly, Dysostosis multiplex, Dysphagia, Everted lower lip vermilion, Glaucoma, Growth abnormality, Hearing impairment, Heparan sulfate excretion in urine, Hepatomegaly, Hernia, Hirsutism, Hyperactivity, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Joint stiffness, Keratoconus, Kyphoscoliosis, Loss of speech, Motor delay, Motor deterioration, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Ovoid thoracolumbar vertebrae, Photophobia, Progressive night blindness, Recurrent upper respiratory tract infections, Retinal atrophy, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Sleep disturbance, Splenomegaly, Synophrys, Thickened ribs, Variable expressivity, Wide nasal bridge
oRG	RAB6A	0.387604671	4.71E-08	GTPase	BrainSpLMD|5870;Eurexp|euxassay_012532|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, molar, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|179513
oRG	TOR1AIP1	0.551739636	4.76E-08	Unclassified	BrainSpLMD|26092	OMIM|614512;HPO|26092|Ankle contracture, Autosomal recessive inheritance, Increased endomysial connective tissue, Slow progression, Spinal rigidity
oRG	SNTA1	1.458385057	4.78E-08	Adapter molecule	BrainSpLMD|6640	OMIM|601017;HPO|6640|Autosomal dominant inheritance, Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation
oRG	ATP6V0E1	0.595049469	4.79E-08	ATPase	BrainSpLMD|8992;Eurexp|euxassay_002321|Meckel's cartilage, basisphenoid bone, orbito-sphenoid, turbinate	OMIM|603931
oRG	DSG2	0.973206417	4.82E-08	Adhesion molecule	BrainSpLMD|1829;Eurexp|euxassay_013590|bladder, calyces, epidermal component, epidermis, epithelium, incisor, larynx, left lung, midgut, molar, naso-lacrimal duct, olfactory, oral epithelium, pancreas, pelvis, pharyngo-tympanic tube, rectum, right lung, stomach, submandibular gland primordium, thymus primordium, thyroid, urethra, vibrissa	OMIM|125671;HPO|1829|Autosomal dominant inheritance, Dilated cardiomyopathy, Heterogeneous, Palpitations, Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular extrasystoles, Ventricular tachycardia
oRG	PPARGC1A	1.249932191	4.83E-08	Transcription regulatory protein	BrainSpLMD|10891;Eurexp|euxassay_006699|anterior, calyces, dorsal root ganglion, external, facial VII, fundus region, incisor, left ventricle, mantle layer, mesenchyme, oral epithelium, posterior, right ventricle, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|18780	OMIM|604517;HPO|10891|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
oRG	AKIRIN1	0.884559415	4.85E-08	Unclassified	BrainSpLMD|79647;Eurexp|euxassay_003462|Meckel's cartilage, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, left lung, mantle layer, molar, oesophagus, olfactory, orbito-sphenoid, right lung, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|615164
oRG	STAT3	0.553642981	4.91E-08	Transcription factor	BrainSpLMD|6774;Eurexp|euxassay_004868|axial skeleton, choroid invagination, dorsal grey horn, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mantle layer, mesenchyme, metatarsus, phalanx, thymus primordium, trigeminal V, ventral grey horn, ventricular layer;BrainSpMouseDev|20610	OMIM|102582;COSMIC||T-cell large granular lymphocytic leukaemia, paediatric large granular lymphocytic leukaemia, IPEX-like syndrome;HPO|6774|Abnormal heart morphology, Abnormality of the hair, Arthrogryposis multiplex congenita, Atelectasis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Autosomal dominant inheritance, Bilateral ptosis, Celiac disease, Chronic otitis media, Cleft palate, Coarse facial features, Contractures of the joints of the lower limbs, Cough, Decreased antibody level in blood, Deeply set eye, Dehydration, Delayed eruption of teeth, Downturned corners of mouth, Dystrophic fingernails, Eczema, Eczematoid dermatitis, Eosinophilia, Failure to thrive, Frontal bossing, Generalized abnormality of skin, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Gingivitis, Global developmental delay, Glycosuria, High palate, Hyperglycemia, Hypertelorism, Hypovolemia, Increased IgE level, Infantile onset, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Ketonuria, Microalbuminuria, Motor delay, Neonatal insulin-dependent diabetes mellitus, Osteopenia, Papule, Paronychia, Persistence of primary teeth, Prominent forehead, Prominent metopic ridge, Pruritus, Recurrent Staphylococcus aureus infections, Recurrent fractures, Recurrent fungal infections, Recurrent respiratory infections, Recurrent sinopulmonary infections, Reduced pancreatic beta cells, Retinopathy, Scoliosis, Short stature, Skin rash, Skin ulcer, Weight loss, Wide nasal bridge, Wide nose
oRG	SEMA5A	0.927980081	5.26E-08	Unclassified	BrainSpLMD|9037;BrainSpMouseDev|20119	SFARI||Autism, 3 - Suggestive evidence;OMIM|609297;HPO|9037|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
oRG	PDCD6	0.844867869	5.55E-08	Calcium binding protein		OMIM|601057
oRG	TMEM9B	0.779862737	5.55E-08	Integral membrane protein	BrainSpLMD|56674	
oRG	C8orf33	0.446384559	5.59E-08	Unclassified	BrainSpLMD|65265	
oRG	ARL6IP5	0.374884697	6.27E-08	Unclassified	BrainSpLMD|10550	OMIM|605709
oRG	SPRY1	0.898223179	6.33E-08	Unclassified	BrainSpLMD|10252	OMIM|602465
oRG	RPL23AP82	0.40789556	6.39E-08		BrainSpLMD|284942	
oRG	SPRED1	0.392432454	6.50E-08	Unclassified	BrainSpLMD|161742	OMIM|609291;HPO|161742|Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Axillary freckling, Cafe-au-lait spot, Downslanted palpebral fissures, Epicanthus, Generalized hypotonia, High, narrow palate, Hypertelorism, Low posterior hairline, Low-set, posteriorly rotated ears, Macrocephaly, Micrognathia, Multiple lipomas, Neurofibromas, Ptosis, Short neck, Specific learning disability, Triangular face
oRG	SRR	0.383617893	6.55E-08	Enzyme: Racemase	BrainSpLMD|63826	OMIM|606477
oRG	CAMK2D	0.485407083	6.70E-08	Serine/threonine kinase	BrainSpLMD|817;Eurexp|euxassay_010500|facial VII, glossopharyngeal IX, mantle layer, mesenchyme, olfactory, trigeminal V, vagus X, ventricle, ventricular layer	OMIM|607708
oRG	SLC25A3	0.334060253	6.70E-08	Transport/cargo protein	BrainSpLMD|5250	OMIM|600370;HPO|5250|Abnormal mitochondrial shape, Abnormality of the mitochondrion, Autosomal recessive inheritance, Cyanosis, Failure to thrive, Hypertrophic cardiomyopathy, Increased serum lactate, Lactic acidosis, Low-output congestive heart failure, Metabolic acidosis, Muscular hypotonia, Myopathy, Respiratory insufficiency
oRG	MAFF	0.538356563	6.70E-08	Transcription factor	BrainSpLMD|23764	OMIM|604877
oRG	UBXN4	0.396795318	6.78E-08	Unclassified	BrainSpLMD|23190;Eurexp|euxassay_008244|embryo	OMIM|611216
oRG	NEK1	0.708824913	6.83E-08	Serine/threonine kinase	BrainSpLMD|4750;Eurexp|euxassay_014225|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, ventral grey horn	OMIM|604588;HPO|4750|Ambiguous genitalia, Amyotrophic lateral sclerosis, Anxiety, Autosomal recessive inheritance, Cleft palate, Depressivity, Digenic inheritance, Disproportionate shortening of the tibia, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Hamartoma of tongue, Horizontal ribs, Hydrops fetalis, Hypoplasia of the epiglottis, Lateral clavicle hook, Median cleft lip, Muscle cramps, Narrow chest, Neurodegeneration, Pain, Paralysis, Polycystic kidney dysplasia, Polysyndactyly of hallux, Postaxial hand polydactyly, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Pulmonary hypoplasia, Respiratory failure, Short ribs, Skeletal muscle atrophy, Spasticity, Thoracic dysplasia, Xerostomia
oRG	PLCH1	0.706486413	6.90E-08	Unclassified	BrainSpMouseDev|92752	OMIM|612835
oRG	KIAA1407	1.584230677	6.97E-08			
oRG	NOL7	1.110685351	7.82E-08	Unclassified	BrainSpLMD|51406	OMIM|611533
oRG	COPS8	0.28805808	7.83E-08	Regulatory/other subunit	BrainSpLMD|10920	OMIM|616011
oRG	PDGFD	1.052057983	8.32E-08	Growth factor	BrainSpLMD|80310;BrainSpMouseDev|47626	OMIM|609673
oRG	NACC2	1.13792521	8.54E-08	Unclassified	BrainSpLMD|138151;Eurexp|euxassay_003015|basal plate, calyces, incisor, limb, marginal layer, molar, submandibular gland primordium, tail	OMIM|615786
oRG	HMGCR	0.62657025	8.73E-08	Enzyme: Reductase	BrainSpLMD|3156;Eurexp|euxassay_004330|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nucleus pulposus, spinal cord, thoracic, trigeminal V, vagus X	OMIM|142910
oRG	TMEM189	0.504355306	8.75E-08	Ubiquitin proteasome system protein	BrainSpLMD|387521	OMIM|610994
oRG	NDUFC1	0.41964212	8.91E-08	Unclassified	BrainSpLMD|4717	OMIM|603844
oRG	ATN1	0.425350434	9.03E-08	Unclassified	BrainSpLMD|1822	OMIM|607462;HPO|1822|Atrophy of the dentate nucleus, Autosomal dominant inheritance, Choreoathetosis, Fetal cystic hygroma, Genetic anticipation
oRG	AMZ2	0.523574081	9.21E-08	Metallo protease	BrainSpLMD|51321	OMIM|615169
oRG	C4orf3	0.59589537	9.51E-08	Integral membrane protein	BrainSpLMD|401152	
oRG	BSG	0.445429966	9.56E-08	Cell surface receptor	BrainSpLMD|682	OMIM|109480
oRG	MAPK1	0.894382686	9.57E-08	Serine/threonine kinase	BrainSpLMD|5594	SFARI||Autism, 5 - Hypothesized but untested;OMIM|176948;COSMIC||CLL, ovarian mixed germ cell tumour, cervical carcinoma;HPO|5594|Abnormality of earlobe, Absent fingernail, Absent toenail, Clinodactyly of the 5th finger, Deeply set eye, Global developmental delay, Highly arched eyebrow, Intellectual disability, Intrauterine growth retardation, Language impairment, Microcephaly, Neoplasm, Pes planus, Pointed chin, Premature birth, Short stature, Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Underdeveloped nasal alae
oRG	FADS1	0.319423981	9.98E-08	Enzyme: Oxidoreductase	BrainSpLMD|3992;Eurexp|euxassay_000686|adrenal gland, testis	OMIM|606148
oRG	BOC	1.523940948	1.03E-07	Cell surface receptor	BrainSpLMD|91653;Eurexp|euxassay_005272|intermediate grey horn, mantle layer, marginal layer, mesenchyme, trachea, ventricular layer;BrainSpMouseDev|78669	OMIM|608708
oRG	JAM3	1.03630204	1.03E-07	Adhesion molecule	BrainSpLMD|83700;Eurexp|euxassay_000180|cerebral cortex, chondrocranium, diaphragm, head mesenchyme, limb, mantle layer, mesenchyme, tongue, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|58180	OMIM|606871;HPO|83700|Autosomal recessive inheritance, Cataract, Congenital onset, Global developmental delay, Hepatomegaly, Hyperreflexia, Postnatal microcephaly, Seizures, Spasticity, Ventriculomegaly
oRG	ARL3	0.406999916	1.04E-07	GTPase	BrainSpLMD|403	OMIM|604695
oRG	HERPUD1	0.631141287	1.04E-07	Integral membrane protein	BrainSpLMD|9709;Eurexp|euxassay_005097|clavicle, mandible, maxilla, olfactory, orbito-sphenoid	OMIM|608070;COSMIC||prostate
oRG	MPPED2	0.682897561	1.04E-07	Enzyme: Hydrolase	BrainSpLMD|744;Eurexp|euxassay_014223|axial skeleton, head mesenchyme, rib, thyroid, ventricular layer	OMIM|600911
oRG	FUNDC1	0.888240872	1.05E-07	Unclassified	BrainSpLMD|139341;Eurexp|euxassay_009100|thymus primordium	OMIM|300871
oRG	EVA1C	2.002000364	1.07E-07	Integral membrane protein	BrainSpLMD|59271;Eurexp|euxassay_007192|cochlea, ventricular layer	
oRG	TARS	0.329764035	1.08E-07	Enzyme: Ligase	BrainSpLMD|6897;Eurexp|euxassay_006234|cortex, left, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|187790
oRG	ATRAID	1.20612605	1.09E-07	Unclassified	BrainSpLMD|51374	
oRG	MRPL13	0.461506616	1.11E-07	Ribosomal subunit	BrainSpLMD|28998;Eurexp|euxassay_003941|submandibular gland primordium, ventricular layer	OMIM|610200
oRG	LPP	0.559508025	1.13E-07	Unclassified	BrainSpLMD|4026	OMIM|600700;COSMIC||lipoma, leukaemia
oRG	GMFB	0.433047266	1.15E-07	Growth factor	BrainSpLMD|2764	OMIM|601713
oRG	XPO1	0.348458498	1.28E-07	Transport/cargo protein	BrainSpLMD|7514	SFARI||Autism, 4 - Minimal evidence;OMIM|602559;COSMIC||CLL
oRG	THBS3	0.734915789	1.29E-07	Extracellular matrix protein	BrainSpLMD|7059;Eurexp|euxassay_010545|brain, mesenchyme, spinal cord;BrainSpMouseDev|21586	OMIM|188062
oRG	ABHD3	1.483657039	1.29E-07	Unclassified	BrainSpLMD|171586;Eurexp|euxassay_005011|choroid plexus, lateral recess, mantle layer, olfactory, urethra	OMIM|612197
oRG	ERGIC2	0.386479318	1.30E-07	Unclassified	BrainSpLMD|51290	OMIM|612236
oRG	MEIS1	0.621212479	1.33E-07	Transcription factor	BrainSpLMD|4211;Eurexp|euxassay_010373|cornea, epithelium, hindgut, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, respiratory, sublingual gland primordium, submandibular gland primordium, trachea, ventricular layer, vibrissa;BrainSpMouseDev|17037	OMIM|601739
oRG	COPZ1	0.479701721	1.34E-07	Transport/cargo protein	BrainSpLMD|22818	OMIM|615472
oRG	ST7.OT4	0.726756528	1.35E-07			
oRG	YWHAEP1	0.32578278	1.35E-07			
oRG	HSPH1	0.397598495	1.38E-07	Heat shock protein;Chaperone	BrainSpLMD|10808	OMIM|610703
oRG	RTN3P1	0.442004038	1.39E-07			
oRG	UBR1	0.468576233	1.41E-07	Ubiquitin proteasome system protein	BrainSpLMD|197131	OMIM|605981;HPO|197131|Abnormal hair pattern, Abnormality of the nail, Abnormality of the vagina, Absent lacrimal punctum, Agenesis of permanent teeth, Alopecia, Anal atresia, Anasarca, Anemia, Anteriorly placed anus, Aplasia cutis congenita of scalp, Atrial septal defect, Autosomal recessive inheritance, Cafe-au-lait spot, Calvarial skull defect, Clinodactyly of the 5th finger, Clitoral hypertrophy, Colonic diverticula, Convex nasal ridge, Cryptorchidism, Death in childhood, Delayed eruption of teeth, Delayed skeletal maturation, Diabetes mellitus, Exocrine pancreatic insufficiency, Failure to thrive, Fair hair, Frontal upsweep of hair, Generalized hypotonia, Hydronephrosis, Hypocalcemia, Hypoplasia of the primary teeth, Hypoplastic nipples, Hypoproteinemia, Hypospadias, Hypothyroidism, Increased circulating very-low-density lipoprotein levels, Intellectual disability, Intrauterine growth retardation, Joint laxity, Lacrimation abnormality, Malabsorption, Microcephaly, Microdontia, Micropenis, Midline skin dimples over anterior/posterior fontanelles, Oligodontia, Rectovaginal fistula, Sensorineural hearing impairment, Septate vagina, Short nose, Short stature, Single transverse palmar crease, Situs inversus totalis, Small for gestational age, Sparse scalp hair, Strabismus, Underdeveloped nasal alae, Urethrovaginal fistula, Ventricular septal defect
oRG	MOV10	1.422964209	1.46E-07	Unclassified	BrainSpLMD|4343;Eurexp|euxassay_012341|anterior, midgut, olfactory, otic capsule, pituitary, stomach, turbinate bones	OMIM|610742
oRG	PRRC2A	0.410493665	1.47E-07	Unclassified	BrainSpLMD|7916	OMIM|142580
oRG	DAZAP2	0.432370247	1.49E-07	RNA binding protein	BrainSpLMD|9802;Eurexp|euxassay_002922|Meckel's cartilage, calyces, incisor, liver, lobe, molar, neural retina, olfactory, pancreas, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|607431
oRG	TRIOBP	0.891743609	1.49E-07	Cytoskeletal associated protein	BrainSpLMD|11078	OMIM|609761;HPO|11078|Autosomal recessive inheritance, Infantile onset, Severe sensorineural hearing impairment
oRG	CPNE3	0.359271668	1.54E-07	Transport/cargo protein	BrainSpLMD|8895	OMIM|604207
oRG	NUBPL	0.453596893	1.54E-07	Unclassified	BrainSpLMD|80224	OMIM|613621;HPO|80224|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
oRG	TTC8	1.550316711	1.59E-07	Unclassified	BrainSpLMD|123016;Eurexp|euxassay_003120|olfactory, ventricular layer	OMIM|608132;HPO|123016|Abnormal electroretinogram, Abnormal light- and dark-adapted electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Attenuation of retinal blood vessels, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Brachycephaly, Cataract, Cognitive impairment, Conductive hearing impairment, Glaucoma, Global developmental delay, Hyperinsulinemia, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypospadias, Intellectual disability, Keratoconus, Macular degeneration, Multicystic kidney dysplasia, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Pigmentary retinopathy, Polydactyly, Postaxial hand polydactyly, Progressive night blindness, Reduced visual acuity, Rod-cone dystrophy, Sensorineural hearing impairment, Severe Myopia, Short stature, Visual impairment, Wide nasal bridge
oRG	IKZF2	1.357789046	1.62E-07	Transcription factor	BrainSpLMD|22807	OMIM|606234
oRG	PRUNE2	1.735611498	1.67E-07	Unclassified	BrainSpLMD|158471;Eurexp|euxassay_011113|diaphragm, dorsal root ganglion, facial VII, floor plate, floorplate, footplate, glossopharyngeal IX, handplate, mantle layer, marginal layer, medulla, midgut, neural retina, oesophagus, olfactory, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, stomach, tegmentum, thymus primordium, trigeminal V, vagus X, ventral grey horn, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|610691
oRG	CETN2	0.785656636	1.69E-07	Calcium binding protein	BrainSpLMD|1069;Eurexp|euxassay_015485|choroid plexus, lateral recess	OMIM|300006
oRG	STX12	0.480365577	1.72E-07	Membrane transport protein	BrainSpLMD|23673;Eurexp|euxassay_011670|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606892
oRG	FAT3	0.701165785	1.75E-07	Integral membrane protein	Eurexp|euxassay_015982|axial muscle, clavicle, cortex, diaphragm, dorsal root ganglion, exoccipital bone, facial VII, femur, lip, mandible, mantle layer, maxilla, mesenchyme, metatarsus, orbito-sphenoid, pelvic girdle, phalanx, rib, saccule, skeletal muscle, sternum, thymus primordium, trigeminal V, urethra, vault of skull, ventricular layer, vibrissa;BrainSpMouseDev|92930	OMIM|612483;COSMIC||SCC, colon adenocarcinoma, gastric adenocarcinoma
oRG	PEX19	0.899163066	1.77E-07	Integral membrane protein	BrainSpLMD|5824	OMIM|600279;HPO|5824|Abnormal cortical bone morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the hairline, Abnormality of the liver, Abnormality of the male genitalia, Abnormality of the palate, Anteverted nares, Ataxia, Atrial septal defect, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, CNS demyelination, Cataract, Central hypotonia, Cerebral atrophy, Cholelithiasis, Chorioretinal abnormality, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cranial asymmetry, Cryptorchidism, Death in infancy, Decreased body weight, Decreased fetal movement, Delayed closure of the anterior fontanelle, Depressed nasal bridge, Developmental regression, Dolichocephaly, Double outlet right ventricle, EEG abnormality, Elevated hepatic transaminases, Elevated levels of phytanic acid, Elevated long chain fatty acids, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Global developmental delay, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydrocephalus, Hydronephrosis, Hyperbilirubinemia, Hyperreflexia, Hypospadias, Jaundice, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Muscular hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Patent ductus arteriosus, Periorbital fullness, Polymicrogyria, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Prominent nose, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Renal tubular dysfunction, Respiratory insufficiency, Rod-cone dystrophy, Scaphocephaly, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Skeletal dysplasia, Spasticity, Strabismus, Triangular face, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
oRG	OBSL1	0.512820941	1.79E-07	Cytoskeletal protein	BrainSpLMD|23363	OMIM|610991;HPO|23363|Abnormality of dental enamel, Abnormality of the elbow, Abnormality of the metaphysis, Anteverted nares, Autosomal recessive inheritance, Broad forehead, Bulbous nose, Delayed eruption of teeth, Delayed skeletal maturation, Dolichocephaly, Enlarged thorax, Everted lower lip vermilion, Frontal bossing, Horizontal ribs, Hyperlordosis, Hypoplasia of the ulna, Hypoplastic ischia, Hypoplastic pelvis, Hypoplastic pubic bone, Increased vertebral height, Intrauterine growth retardation, Joint hyperflexibility, Long philtrum, Malar flattening, Micromelia, Midface retrusion, Pointed chin, Prominent nasal tip, Protruding ear, Rocker bottom foot, Scapular winging, Short neck, Short stature, Short thorax, Slender long bone, Thick eyebrow, Thin ribs, Triangular face
oRG	GLIPR2	1.57430555	1.81E-07	Unclassified	BrainSpLMD|152007;Eurexp|euxassay_005658|arm, diaphragm, footplate, handplate, leg, lower leg, paraxial mesenchyme, tongue, upper leg, vertebral axis muscle system	OMIM|607141
oRG	LIPA	0.764579983	1.82E-07	Enzyme: Lipase	BrainSpLMD|3988	OMIM|613497;HPO|3988|Abdominal distention, Adrenal calcification, Anemia, Arteriosclerosis, Ascites, Autosomal recessive inheritance, Bone-marrow foam cells, Cachexia, Cirrhosis, Death in infancy, Diarrhea, Esophageal varix, Failure to thrive, Global developmental delay, Growth delay, Hepatic failure, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Malnutrition, Nausea and vomiting, Protuberant abdomen, Pulmonary arterial hypertension, Splenomegaly, Steatorrhea, Vacuolated lymphocytes, Vomiting
oRG	LIMA1	0.583298246	1.86E-07	Cytoskeletal protein	BrainSpLMD|51474	OMIM|608364
oRG	LRP6	0.42414349	1.87E-07	Structural protein	BrainSpLMD|4040;Eurexp|euxassay_018221|lung, nasal septum, otic capsule, submandibular gland primordium, trachea, vibrissa;BrainSpMouseDev|16744	OMIM|603507;HPO|4040|Agenesis of permanent teeth, Autosomal dominant inheritance, Hypoplasia of the maxilla, Microdontia, Micrognathia, Oligodontia
oRG	HSPD1	0.47607921	1.91E-07	Heat shock protein	BrainSpLMD|3329;BrainSpMouseDev|15285	OMIM|118190;HPO|3329|Apnea, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Choreoathetosis, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hyperreflexia, Impaired vibration sensation in the lower limbs, Intellectual disability, profound, Leukodystrophy, Lower limb muscle weakness, Lower limb spasticity, Neonatal onset, Nystagmus, Postnatal microcephaly, Progressive, Progressive spasticity, Seizures, Spastic gait, Spastic paraplegia, Strabismus, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
oRG	AMMECR1	1.078770268	1.94E-07	Unclassified	BrainSpLMD|9949	OMIM|300195;HPO|9949|Abnormality of the hair, Anteverted nares, Depressed nasal bridge, Downslanted palpebral fissures, Elliptocytosis, Glomerulopathy, Hearing impairment, Intellectual disability, severe, Malar flattening, Microscopic hematuria, Muscular hypotonia, Proteinuria, Renal insufficiency, Tapered finger, Thick vermilion border, Thin vermilion border
oRG	RDH10	1.052485257	1.95E-07	Enzyme: Dehydrogenase	BrainSpLMD|157506;Eurexp|euxassay_005601|bladder, brain, footplate, genital tubercle, handplate, lip, mesothelium, midgut, naris, olfactory, rectum, spinal cord, stomach	OMIM|607599
oRG	NDP	1.638426357	1.98E-07	Growth factor	BrainSpLMD|4693;Eurexp|euxassay_009402|marginal layer	OMIM|300658;HPO|4693|Abnormal macular morphology, Abnormality of cochlea, Abnormality of the retinal vasculature, Aggressive behavior, Anterior chamber synechiae, Anxiety, Aplasia/Hypoplasia of the lens, Blindness, Cataract, Chorioretinal abnormality, Deeply set eye, Dementia, Erectile abnormalities, Exudative vitreoretinopathy, Falciform retinal fold, Glaucoma, Hallucinations, Hypoplasia of the iris, Hypotelorism, Intellectual disability, progressive, Intraretinal exudate, Irritability, Macrotia, Microphthalmia, Narrow nasal bridge, Neoplasm of the eye, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Peripheral vitreous opacities, Premature birth, Psychosis, Reduced visual acuity, Remnants of the hyaloid vascular system, Retinal detachment, Retinal dysplasia, Retinal fold, Sclerocornea, Seizures, Sensorineural hearing impairment, Shallow anterior chamber, Small for gestational age, Stereotypy, Strabismus, Subretinal exudate, Vascular neoplasm, Venous insufficiency, X-linked recessive inheritance
oRG	LRRC42	0.491000413	1.99E-07	Unclassified	BrainSpLMD|115353;Eurexp|euxassay_000277|Meckel's cartilage, cranium, dorsal root ganglion, molar, ventral grey horn	
oRG	DDIT3	0.601481927	2.01E-07	Transcription factor	BrainSpLMD|1649;Eurexp|euxassay_009824|olfactory;BrainSpMouseDev|12978	OMIM|126337;COSMIC||liposarcoma;HPO|1649|Myxoid liposarcoma, Somatic mutation, Subcutaneous nodule
oRG	PDIA3	0.873795435	2.11E-07	Enzyme: Isomerase		OMIM|602046
oRG	STOX2	0.590436203	2.12E-07	Unclassified	Eurexp|euxassay_008526|ventricular layer	OMIM|617359
oRG	NDFIP1	0.37855408	2.16E-07	Adapter molecule	BrainSpLMD|80762;Eurexp|euxassay_010361|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, maxilla, midgut, neural retina, rib, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612050
oRG	COL4A6	1.648528013	2.18E-07	Extracellular matrix protein	BrainSpLMD|1288;Eurexp|euxassay_009999|associated mesenchyme, basioccipital bone, clavicle, femur, fibula, humerus, lens, mandible, maxilla, meninges, nasal septum, orbito-sphenoid, otic capsule, petrous part, phalanx, renal/urinary system, rib, submandibular gland primordium, tibia, trunk mesenchyme, turbinate bones, vault of skull	OMIM|303631;HPO|1288|Cochlear malformation, Hearing impairment, X-linked recessive inheritance
oRG	EMP3	1.214386718	2.27E-07	Integral membrane protein	BrainSpLMD|2014;Eurexp|euxassay_008825|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, mandible, maxilla, meninges, metatarsus, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, tibia, turbinate bones, ulna, vault of skull	OMIM|602335
oRG	SBDS	0.556130948	2.32E-07	Unclassified	BrainSpLMD|51119	OMIM|607444;COSMIC||AML, MDS;HPO|51119|Abnormality of the metaphysis, Acute myeloid leukemia, Anemia, Autosomal recessive inheritance, Coxa vara, Delayed skeletal maturation, Eczema, Elevated hepatic transaminases, Enlargement of the costochondral junction, Exocrine pancreatic insufficiency, Failure to thrive, Generalized hypotonia, Global developmental delay, Hepatomegaly, Ichthyosis, Intellectual disability, Intellectual disability, mild, Irregular ossification at anterior rib ends, Malabsorption, Metaphyseal chondrodysplasia, Metaphyseal sclerosis, Metaphyseal widening, Myelodysplasia, Myocardial necrosis, Narrow chest, Narrow sacroiliac notch, Neonatal respiratory distress, Nephrocalcinosis, Neutropenia, Osteopenia, Ovoid vertebral bodies, Pancytopenia, Persistence of hemoglobin F, Proximal femoral epiphysiolysis, Recurrent infections, Short stature, Small for gestational age, Specific learning disability, Steatorrhea, Thrombocytopenia
oRG	CCDC53	0.270751576	2.32E-07			
oRG	AJUBA	0.981971213	2.33E-07	Cell cycle control protein	BrainSpLMD|84962	OMIM|609066
oRG	DNHD1	0.260419181	2.37E-07	Unclassified	BrainSpLMD|144132	OMIM|617277
oRG	ARHGEF26	1.177582346	2.45E-07		BrainSpLMD|26084;Eurexp|euxassay_016114|ventricular layer	OMIM|617552
oRG	RP11.101E13.5	0.425454917	2.57E-07			
oRG	INTS3	0.447884451	2.59E-07	Unclassified	BrainSpLMD|65123;Eurexp|euxassay_006847|embryo	OMIM|611347
oRG	TPM2	1.476224393	2.64E-07	Cytoskeletal protein	BrainSpLMD|7169	OMIM|190990;HPO|7169|Abnormality of the ear, Abnormality of the hip bone, Absent phalangeal crease, Adducted thumb, Aplasia/Hypoplasia of the radius, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bulbar palsy, Calcaneovalgus deformity, Camptodactyly, Camptodactyly of finger, Centrally nucleated skeletal muscle fibers, Childhood onset, Congenital onset, Decreased fetal movement, Difficulty walking, Dilated cardiomyopathy, Distal arthrogryposis, Downslanted palpebral fissures, Dysphagia, Elbow flexion contracture, Facial diplegia, Facial palsy, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Generalized muscle weakness, Gowers sign, Heterogeneous, High palate, Hyporeflexia, Joint stiffness, Kyphoscoliosis, Limb muscle weakness, Long face, Long philtrum, Lumbar hyperlordosis, Mandibular prognathia, Metatarsus adductus, Micrognathia, Motor delay, Muscular hypotonia, Myopathic facies, Myopathy, Narrow face, Narrow mouth, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Overlapping fingers, Pectus excavatum, Prominent nasolabial fold, Protruding ear, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Reduced tendon reflexes, Reduced vital capacity, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Rocker bottom foot, Round ear, Scapular winging, Scoliosis, Short neck, Short stature, Skeletal muscle atrophy, Talipes, Talipes equinovarus, Tarsal synostosis, Triangular face, Type 1 fibers relatively smaller than type 2 fibers, Type 1 muscle fiber predominance, Ulnar deviation of finger, Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the wrist, Variable expressivity, Vertebral segmentation defect, Waddling gait, Weak cry, Webbed neck, Wide nasal bridge
oRG	MLF1	0.910621213	2.66E-07	Unclassified	BrainSpLMD|4291;Eurexp|euxassay_009918|choroid invagination, choroid plexus, roof plate	OMIM|601402;COSMIC||AML
oRG	NSDHL	1.118981081	2.71E-07	Enzyme: Dehydrogenase	BrainSpLMD|50814	OMIM|300275;HPO|50814|Abnormal cortical bone morphology, Abnormality of digit, Abnormality of the cardiac septa, Abnormality of the nail, Aggressive behavior, Almond-shaped palpebral fissure, Aplasia/hypoplasia of the extremities, Cleft upper lip, Congenital ichthyosiform erythroderma, Delayed speech and language development, Dental crowding, Epicanthus, Epiphyseal stippling, Generalized hypotonia, Global developmental delay, Heterogeneous, High palate, Hydronephrosis, Hyperactivity, Hyperkeratosis, Hyperlordosis, Hypoplastic pelvis, Intellectual disability, Intellectual disability, mild, Irritability, Joint hypermobility, Kyphosis, Long face, Malar flattening, Microcephaly, Micrognathia, Mild intrauterine growth retardation, Narrow face, Pachygyria, Parakeratosis, Polymicrogyria, Posteriorly rotated ears, Prominent nasal bridge, Retrognathia, Scoliosis, Seizures, Single ventricle, Sleep disturbance, Slender build, Strabismus, Umbilical hernia, Upslanted palpebral fissure, X-linked dominant inheritance, X-linked recessive inheritance
oRG	GTF3C6	0.55815671	2.76E-07	Unclassified	BrainSpLMD|112495	OMIM|611784
oRG	SLC39A11	0.670877595	2.80E-07	Membrane transport protein	BrainSpLMD|201266	SFARI||Autism, No category;OMIM|616508
oRG	PRCP	0.659079064	2.89E-07	Carboxypeptidase	BrainSpLMD|5547;Eurexp|euxassay_006670|axial muscle, basioccipital bone, lobe, lung, mandible, maxilla, meninges, mesenchyme, orbito-sphenoid, rib, skeletal muscle, thymus primordium	OMIM|176785
oRG	SOX9.AS1	1.875463284	2.96E-07			
oRG	RAB21	0.508559359	3.02E-07	GTPase	BrainSpLMD|23011;Eurexp|euxassay_010091|dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, neural retina, thymus primordium, trigeminal V, vagus X	OMIM|612398
oRG	WBP5	0.412008326	3.04E-07			
oRG	RABL3	0.491065797	3.15E-07	GTPase		
oRG	DHTKD1	1.179392409	3.23E-07	Enzyme: Oxidoreductase	BrainSpLMD|55526	OMIM|614984;HPO|55526|Aminoaciduria, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Delayed speech and language development, Difficulty walking, Generalized hypotonia, Global developmental delay, Intellectual disability, mild, Microcephaly, Phenotypic variability, Skeletal muscle atrophy
oRG	PNMA2	0.413484537	3.26E-07	Unclassified	BrainSpLMD|10687;Eurexp|euxassay_005514|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|603970
oRG	MAPK8IP1	0.926249275	3.31E-07	Transcription factor	BrainSpLMD|9479;Eurexp|euxassay_011138|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|604641
oRG	ASPH	1.044197109	3.33E-07	Enzyme: Hydroxylase	BrainSpLMD|444	OMIM|600582;HPO|444|Abnormal facial shape, Autosomal recessive inheritance, Convex nasal ridge, Dental malocclusion, Downslanted palpebral fissures, Ectopia lentis, Iris atrophy, Large beaked nose, Prominent nose, Retrognathia
oRG	CEP128	1.17005249	3.41E-07	Unclassified	BrainSpLMD|145508	
oRG	CCDC113	1.34854453	3.41E-07	Unclassified	BrainSpLMD|29070;Eurexp|euxassay_006340|choroid invagination, choroid plexus	OMIM|616070
oRG	NTPCR	0.440648707	3.45E-07	ATPase	BrainSpLMD|84284	
oRG	LMNA	0.736802261	3.45E-07	Structural protein	BrainSpLMD|4000;Eurexp|euxassay_000214|atrio-ventricular cushion tissue, mesenchyme, rest of skin	OMIM|150330;COSMIC||Spitzoid tumour, Muscular dystrophy, dilated cardiomyopathy, familial partial lipodystrophy, and others;HPO|4000|Abnormal atrioventricular conduction, Abnormal cellular phenotype, Abnormal electrophysiology of sinoatrial node origin, Abnormal hair whorl, Abnormal trabecular bone morphology, Abnormality of circulating leptin level, Abnormality of retinal pigmentation, Abnormality of the Achilles tendon, Abnormality of the cerebral vasculature, Abnormality of the eyebrow, Abnormality of the foot, Abnormality of the intrahepatic bile duct, Abnormality of the nail, Abnormality of the pinna, Abnormality of the pulmonary artery, Abnormality of the testis, Abnormality of the voice, Absence of pubertal development, Absence of subcutaneous fat, Absent eyebrow, Absent eyelashes, Acanthosis nigricans, Accelerated atherosclerosis, Achilles tendon contracture, Acroosteolysis of distal phalanges (feet), Acute pancreatitis, Adipose tissue loss, Adrenal hypoplasia, Advanced eruption of teeth, Alopecia, Alopecia universalis, Aminoaciduria, Angina pectoris, Aortic atherosclerosis, Aortic root dilatation, Aortic valve calcification, Aortic valve stenosis, Aplasia of the middle phalanx of the hand, Aplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Aplastic clavicles, Areflexia, Arrhythmia, Arteriosclerosis of small cerebral arteries, Arthrogryposis multiplex congenita, Atherosclerosis, Atrial fibrillation, Atrial flutter, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Axial muscle weakness, Axonal degeneration/regeneration, Basal cell carcinoma, Bilateral coxa valga, Bird-like facies, Blepharophimosis, Brachydactyly, Bradycardia, Broad-based gait, Calcinosis, Calf muscle hypertrophy, Choanal atresia, Chondrocalcinosis, Clinodactyly, Congenital muscular dystrophy, Congenital pseudoarthrosis of the clavicle, Congestive heart failure, Convex nasal ridge, Coronary artery disease, Coronary atherosclerosis, Craniofacial disproportion, Cyanosis, Decreased adiponectin level, Decreased calvarial ossification, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Decreased circulating high-density lipoprotein levels, Decreased fertility, Decreased fetal movement, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Decreased serum estradiol, Decreased serum leptin, Decreased skull ossification, Decreased testosterone in males, Delayed cranial suture closure, Delayed eruption of teeth, Delayed puberty, Dental crowding, Dermal atrophy, Dermal translucency, Diabetes mellitus, Difficulty climbing stairs, Difficulty walking, Dilated cardiomyopathy, Distal amyotrophy, Distal lower limb amyotrophy, Distal muscle weakness, Distal sensory impairment, Down-sloping shoulders, Downslanted palpebral fissures, EMG abnormality, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated serum creatine phosphokinase, Emphysema, Enlarged peripheral nerve, Entropion, Epidermal hyperkeratosis, Failure to thrive, Fasting hyperinsulinemia, Feeding difficulties, Flexion contracture, Foot dorsiflexor weakness, Fragile nails, Full cheeks, Gait disturbance, Generalized amyotrophy, Generalized hyperkeratosis, Generalized lipodystrophy, Generalized osteoporosis, Global developmental delay, Glucose intolerance, Glycosuria, Growth delay, Hepatic steatosis, Hepatomegaly, Heterogeneous, High palate, High pitched voice, Hirsutism, Hydropic placenta, Hypercholesterolemia, Hyperglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hyperkeratosis, Hyperlipidemia, Hyperlordosis, Hypermetropia, Hyperphosphatemia, Hypertelorism, Hypertension, Hypertriglyceridemia, Hypodontia, Hypogonadism, Hypogonadotrophic hypogonadism, Hypohidrosis, Hypoplasia of teeth, Hypoplastic facial bones, Hypoplastic nipples, Hyporeflexia, Hypospadias, Hypotrichosis, Increased adipose tissue around the neck, Increased anterioposterior diameter of thorax, Increased facial adipose tissue, Increased intraabdominal fat, Increased intramuscular fat, Infertility, Insulin resistance, Insulin-resistant diabetes mellitus, Intermittent claudication, Intervertebral disc degeneration, Intracranial hemorrhage, Intrauterine growth retardation, Joint stiffness, Juvenile onset, Keratoconjunctivitis sicca, Kyphoscoliosis, Kyphosis, Labial pseudohypertrophy, Lack of skin elasticity, Large fontanelles, Laryngomalacia, Limb muscle weakness, Limb-girdle muscle weakness, Limb-girdle muscular dystrophy, Limitation of joint mobility, Lipoatrophy, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Loss of truncal subcutaneous adipose tissue, Low-set ears, Macrotia, Malar flattening, Meningioma, Metaphyseal widening, Micrognathia, Midface retrusion, Mildly elevated creatine phosphokinase, Minimal subcutaneous fat, Mitral regurgitation, Mitral valve calcification, Motor delay, Mottled pigmentation, Multiple joint contractures, Muscle hypertrophy of the lower extremities, Muscular dystrophy, Muscular hypotonia, Myalgia, Myocardial infarction, Myopathy, Nail dysplasia, Narrow face, Narrow mouth, Narrow nasal ridge, Narrow nasal tip, Nasal speech, Natal tooth, Neck muscle weakness, Neoplasm of the breast, Neoplasm of the lung, Neoplasm of the oral cavity, Neoplasm of the skin, Neoplasm of the small intestine, Neoplasm of the thyroid gland, Onion bulb formation, Onset, Osteoarthritis, Osteolysis, Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the phalanges of the hand, Osteopenia, Osteoporosis, Osteosarcoma, Ovarian neoplasm, Overtubulated long bones, Ovoid vertebral bodies, Papillary renal cell carcinoma, Patchy hypo- and hyperpigmentation, Patent ductus arteriosus, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Pericardial effusion, Peripheral arterial stenosis, Peripheral axonal atrophy, Peroneal muscle atrophy, Peroneal muscle weakness, Pes cavus, Pes planus, Pili torti, Polycystic ovaries, Polyhydramnios, Poor head control, Postnatal growth retardation, Precocious atherosclerosis, Precocious puberty, Premature arteriosclerosis, Premature birth, Premature coronary artery disease, Premature delivery because of cervical insufficiency or membrane fragility, Premature graying of hair, Premature loss of teeth, Premature ovarian insufficiency, Premature rupture of membranes, Premature skin wrinkling, Primary atrial arrhythmia, Progeroid facial appearance, Progressive, Progressive clavicular acroosteolysis, Prolonged prothrombin time, Prominent forehead, Prominent scalp veins, Prominent superficial blood vessels, Prominent superficial veins, Proptosis, Proximal muscle weakness, Proximal upper limb muscle hypertrophy, Ptosis, Pulmonary carcinoid tumor, Pulmonary hypoplasia, Reduced subcutaneous adipose tissue, Renal neoplasm, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Restricted neck movement due to contractures, Reticulated skin pigmentation, Retinal degeneration, Retrognathia, Rocker bottom foot, Round face, Scaling skin, Scapular winging, Scleroderma, Sclerosis of hand bone, Secondary amenorrhea, Sensorineural hearing impairment, Severe muscular hypotonia, Short clavicles, Short distal phalanx of finger, Short nail, Short palm, Short palpebral fissure, Short stature, Short umbilical cord, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Skin erosion, Skin ulcer, Slow progression, Small placenta, Sparse and thin eyebrow, Sparse body hair, Sparse eyebrow, Sparse eyelashes, Sparse hair, Sparse or absent eyelashes, Sparse scalp hair, Spinal rigidity, Squamous cell carcinoma of the skin, Steppage gait, Stiff skin, Stillbirth, Structural foot deformity, Subcutaneous calcification, Submucous cleft hard palate, Sudden cardiac death, Supraventricular arrhythmia, Syndactyly, Talipes, Tapering pointed ends of distal finger phalanges, Telangiectasia of the skin, Telecanthus, Temporomandibular joint ankylosis, Thin bony cortex, Thin clavicles, Thin nail, Thin ribs, Thin skin, Thin vermilion border, Thrombocytosis, Type II diabetes mellitus, Upper limb muscle weakness, Ureteral duplication, Variable expressivity, Ventricular arrhythmia, Ventricular hypertrophy, White forelock, Wide nasal bridge, Widely patent fontanelles and sutures, Wormian bones, X-linked inheritance, Xanthomatosis
oRG	VIMP	0.677846428	3.46E-07			
oRG	ZNF518A	0.671947523	3.54E-07	DNA binding protein		OMIM|617733
oRG	TMEM50B	0.414783684	3.54E-07	Integral membrane protein	BrainSpLMD|757;Eurexp|euxassay_012115|Meckel's cartilage, arytenoid, axial skeleton, basioccipital bone, basisphenoid bone, carpus, cricoid, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, hyoid bone, mantle layer, marginal layer, metacarpus, naris, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rest of mesenchyme, rib, scapula, sternum, submandibular gland primordium, thyroid, tibia, trigeminal V, turbinate bones, ulna, vagus X, vault of skull, ventricular layer, vestibulocochlear VIII	
oRG	PDE8B	0.583273376	3.70E-07	Enzyme: Phosphodiesterase	BrainSpLMD|8622;Eurexp|euxassay_003225|adrenal gland, anterior, calyces, dermis, dorsal grey horn, mesenchyme, pancreas, posterior, skin, turbinate bones, ventral grey horn	OMIM|603390;HPO|8622|Adrenal hyperplasia, Autosomal dominant inheritance, Bradykinesia, Degeneration of the striatum, Diabetes mellitus, Dysarthria, Dysdiadochokinesis, Dysphagia, Fatigue, Gait disturbance, Hypertension, Hypogonadism, Hypokinesia, Increased circulating cortisol level, Increased susceptibility to fractures, Lower limb hyperreflexia, Muscle weakness, Osteoporosis, Pigmented micronodular adrenocortical disease, Rigidity, Short stature, Skeletal muscle atrophy, Slender build, Slow progression, Striae distensae, Symmetric lesions of the basal ganglia, Thin skin
oRG	LNPEP	0.69612413	3.72E-07	Aminopeptidase	BrainSpLMD|4012	OMIM|151300
oRG	ST13	0.292492552	3.98E-07	Adapter molecule	BrainSpLMD|6767	OMIM|606796
oRG	RTCB	0.394645476	4.11E-07	Unclassified	BrainSpLMD|51493	OMIM|613901
oRG	TTLL3	0.940415481	4.15E-07	Enzyme: Ligase	BrainSpLMD|26140;Eurexp|euxassay_010602|ventricular layer	
oRG	CMTM3	1.937025732	4.23E-07	Chemokine	BrainSpLMD|123920	OMIM|607886
oRG	LAMTOR4	0.491893216	4.40E-07	Unclassified		
oRG	CCDC167	0.381283897	4.42E-07	Unclassified		
oRG	APPL2	0.707262269	4.48E-07	Unclassified	BrainSpLMD|55198;Eurexp|euxassay_000187|corpus striatum, dental papilla, epithelium, footplate, handplate, medulla, mesenchyme, parenchyma, stomach, thalamus, ventricular layer	OMIM|606231
oRG	CTSL	0.355544841	4.80E-07	Cysteine protease	BrainSpLMD|1514	OMIM|116880
oRG	B3GALT1	0.346079418	4.99E-07	Enzyme: Galactosyltransferase	BrainSpLMD|8708	OMIM|603093
oRG	PLIN3	1.411367049	5.07E-07	Transport/cargo protein	BrainSpLMD|10226;Eurexp|euxassay_007119|bladder, choroid plexus, metanephros, midgut, nasal septum, nucleus pulposus, skeletal muscle, stomach, turbinate bones, urethra, vascular element	OMIM|602702
oRG	ZNF334	0.592162898	5.18E-07	DNA binding protein;Transcription regulatory protein	BrainSpLMD|55713	
oRG	NDUFB5	0.686960671	5.35E-07	Enzyme: Oxidoreductase	BrainSpLMD|4711	OMIM|603841
oRG	FAM195B	0.859592581	5.43E-07			
oRG	RAB8B	0.359905405	5.54E-07	GTPase	BrainSpLMD|51762	OMIM|613532
oRG	POLR2J	0.316329177	5.64E-07	RNA polymerase	BrainSpLMD|5439	OMIM|604150
oRG	ITGB1BP1	0.582206038	5.69E-07	Adapter molecule	BrainSpLMD|9270;Eurexp|euxassay_006800|left lung, right lung	OMIM|607153
oRG	SQSTM1	0.446255006	5.80E-07	Ubiquitin proteasome system protein	BrainSpLMD|8878	OMIM|601530;HPO|8878|Abnormal brain FDG positron emission tomography, Abnormal lower motor neuron morphology, Abnormal pyramidal signs, Abnormality of pelvic girdle bone morphology, Abnormality of the cerebral white matter, Absent Achilles reflex, Aggressive behavior, Amyotrophic lateral sclerosis, Anxiety, Apathy, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone pain, Brain stem compression, Bulbar palsy, Cerebral cortical atrophy, Collectionism, Cranial nerve paralysis, Depressivity, Disinhibition, Dysarthria, Dyscalculia, Dysdiadochokinesis, Dysgraphia, Dyslexia, Dysmetria, Dysphagia, Dysphasia, Dyspnea, Dystonia, EEG with continuous slow activity, EMG: myopathic abnormalities, EMG: myotonic discharges, EMG: positive sharp waves, Echolalia, Elevated alkaline phosphatase, Elevated serum creatine phosphokinase, Emotional blunting, Emotional lability, Facial palsy, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Fatty replacement of skeletal muscle, Foot dorsiflexor weakness, Fractures of the long bones, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait ataxia, Generalized muscle weakness, Heterogeneous, Hip flexor weakness, Hydroxyprolinuria, Hyperorality, Hyperreflexia, Hyporeflexia, Hypothyroidism, Inappropriate behavior, Increased susceptibility to fractures, Increased variability in muscle fiber diameter, Irritability, Lack of insight, Language impairment, Limb ataxia, Limited shoulder movement, Limited wrist extension, Long-tract signs, Loss of speech, Memory impairment, Mental deterioration, Mildly elevated creatine phosphokinase, Muscle cramps, Muscle fiber inclusion bodies, Mutism, Neurodegeneration, Nystagmus, Oculomotor apraxia, Osteolysis, Osteosarcoma, Pain, Paralysis, Paraparesis, Patchy osteosclerosis, Perseveration, Personality changes, Phenotypic variability, Poor speech, Premature loss of teeth, Progressive, Respiratory failure, Restlessness, Restrictive behavior, Rimmed vacuoles, Scapular winging, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Spasticity, Steppage gait, Stereotypy, Tetraparesis, Thickened nuchal skin fold, Tibialis muscle weakness, Tremor, Variable expressivity, Vertebral compression fractures, Vertical supranuclear gaze palsy, Xerostomia
oRG	ARHGAP18	0.536739984	5.90E-07	GTPase activating protein	BrainSpLMD|93663	OMIM|613351
oRG	RP11.296E7.1	0.310083353	6.25E-07			
oRG	XIAP	0.336591635	6.25E-07	Enzyme: Ligase	BrainSpLMD|331	OMIM|300079;HPO|331|Anemia, Cellular immunodeficiency, Decreased antibody level in blood, Encephalitis, Fulminant hepatitis, Hepatic encephalopathy, Hepatomegaly, IgG deficiency, Immunodeficiency, Increased IgM level, Lymphadenopathy, Lymphoma, Meningitis, Pancytopenia, Recurrent pharyngitis, Reduced natural killer cell activity, Splenomegaly, Thrombocytopenia, X-linked inheritance, X-linked recessive inheritance
oRG	CHMP2B	0.392422756	6.30E-07	Transport/cargo protein	BrainSpLMD|25978;Eurexp|euxassay_017077|dorsal grey horn, intermediate grey horn, mantle layer, ventral grey horn, ventricular layer, vibrissa	OMIM|609512;HPO|25978|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Adult onset, Aggressive behavior, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apathy, Apraxia, Areflexia, Astrocytosis, Autosomal dominant inheritance, Babinski sign, Bulbar signs, Cerebral cortical atrophy, Collectionism, Depressivity, Disinhibition, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphagia, Dysphasia, Dyspnea, Dystonia, EEG with continuous slow activity, Echolalia, Emotional blunting, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontal release signs, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait disturbance, Generalized muscle weakness, Grammar-specific speech disorder, Hyperorality, Hyperreflexia, Hyporeflexia, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Muscle cramps, Mutism, Myoclonus, Neurodegeneration, Neuronal loss in central nervous system, Orofacial dyskinesia, Pain, Paralysis, Perseveration, Personality changes, Poor speech, Rapidly progressive, Respiratory failure, Respiratory insufficiency due to muscle weakness, Restlessness, Restrictive behavior, Rigidity, Skeletal muscle atrophy, Spasticity, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold, Urinary incontinence, Xerostomia
oRG	AKTIP	1.272415582	6.42E-07	Enzyme regulator;Ubiquitin proteasome system protein	BrainSpLMD|64400;Eurexp|euxassay_003309|bladder, calyces, cervical, cervico-thoracic, dorsal root ganglion, epidermis, facial VII, glossopharyngeal IX, left lung, olfactory, right lung, submandibular gland primordium, thoracic, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|608483
oRG	ORAI2	1.282243053	6.72E-07	Unclassified	BrainSpLMD|80228;Eurexp|euxassay_008399|brain, dorsal root ganglion, glossopharyngeal IX, incisor, molar, naris, neural retina, olfactory, respiratory, spinal cord, thyroid, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|610929
oRG	CBL	0.754231658	6.75E-07	Ubiquitin proteasome system protein	BrainSpLMD|867	OMIM|165360;COSMIC||AML, JMML, MDS;HPO|867|Aortic valve stenosis, Autosomal dominant inheritance, Bicuspid aortic valve, Cafe-au-lait spot, Cryptorchidism, Cubitus valgus, Deep philtrum, Delayed speech and language development, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Fine hair, Frontal bossing, Generalized hypotonia, Global developmental delay, Hypertelorism, Joint hypermobility, Joint laxity, Juvenile myelomonocytic leukemia, Long philtrum, Low-set ears, Macrotia, Mitral regurgitation, Pectus excavatum, Phenotypic variability, Posteriorly rotated ears, Ptosis, Short neck, Somatic mutation, Sparse hair, Thick vermilion border, Triangular face, Webbed neck, Wide intermamillary distance
oRG	CNDP2	0.282605664	6.85E-07	Metallo protease	BrainSpLMD|55748	OMIM|169800
oRG	RNU6.482P	1.168776145	6.86E-07			
oRG	TWSG1	1.182349602	7.09E-07	Secreted polypeptide	BrainSpLMD|57045	OMIM|605049
oRG	SGPL1	0.53402332	7.18E-07	Enzyme: Lyase	BrainSpLMD|8879;Eurexp|euxassay_009987|mantle layer, mesenchyme, metanephros, olfactory, renal/urinary system, thymus primordium	OMIM|603729
oRG	ERBB2	0.600598726	7.35E-07	Receptor tyrosine kinase	BrainSpLMD|2064;Eurexp|euxassay_006184|anterior, bladder, diaphragm, epidermis, epithelium, external, eyelid, frenulum, incisor, larynx, midgut, molar, naso-lacrimal duct, olfactory, oral epithelium, paraxial mesenchyme, pharyngo-tympanic tube, posterior, rectum, rest of mesenchyme, skeletal muscle, stomach, submandibular gland primordium, urethra, ventricle, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|13644	OMIM|164870;COSMIC||breast, ovarian, other tumour types, NSCLC, gastric;HPO|2064|Alveolar cell carcinoma, Autosomal dominant inheritance, Autosomal recessive inheritance, Ependymoma, Glioblastoma, Glioblastoma multiforme, Somatic mutation, Stomach cancer
oRG	SRP54	0.345124798	7.36E-07	RNA binding protein	BrainSpLMD|6729;Eurexp|euxassay_013249|embryo	OMIM|604857
oRG	QDPR	1.141791576	7.63E-07	Enzyme: Reductase	BrainSpLMD|5860;Eurexp|euxassay_002173|dorsal root ganglion, olfactory;BrainSpMouseDev|74548	OMIM|612676;HPO|5860|Autosomal recessive inheritance, Cerebral calcification, Choreoathetosis, Dysphagia, Dystonia, Episodic fever, Excessive salivation, Global developmental delay, Hyperphenylalaninemia, Hypertonia, Infantile onset, Intellectual disability, Irritability, Microcephaly, Muscular hypotonia, Myoclonus, Progressive neurologic deterioration, Seizures, Tremor, Variable expressivity
oRG	ALDH3A2	0.565367512	7.72E-07	Enzyme: Dehydrogenase	BrainSpLMD|224;Eurexp|euxassay_018736|olfactory, thymus primordium	OMIM|609523;HPO|224|Abnormal pyramidal signs, Abnormality of retinal pigmentation, Autosomal recessive inheritance, CNS demyelination, Corneal erosion, Dry skin, Dysarthria, Erythema, Generalized hyperpigmentation, Hyperkeratosis, Hypoplasia of dental enamel, Ichthyosis, Inflammatory abnormality of the eye, Intellectual disability, Kyphosis, Macular degeneration, Myopia, Opacification of the corneal epithelium, Photophobia, Retinopathy, Seizures, Short stature, Skeletal dysplasia, Spastic diplegia, Spasticity, Thoracic kyphosis
oRG	ITPR2	0.700091006	7.84E-07	Transport/cargo protein	BrainSpLMD|3709;Eurexp|euxassay_013833|mantle layer	OMIM|600144;HPO|3709|Anhidrosis, Autosomal recessive inheritance, Generalized anhidrosis, Heat intolerance
oRG	NOTCH1	1.107187914	7.85E-07	Cell surface receptor	BrainSpLMD|4851;Eurexp|euxassay_018738|cochlea, cornea, cortex, epidermis, epithelium, incisor, left lung, molar, olfactory, rest of skin, retina, right lung, submandibular gland primordium, thymus primordium, utricle, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|17895	OMIM|190198;COSMIC||T-ALL, breast, bladder, skin SCC, lung SCC, head and neck SCC;HPO|4851|Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis, Aplasia cutis congenita, Autosomal dominant inheritance, Bicuspid aortic valve, Brachydactyly, Calvarial skull defect, Cataract, Cavernous hemangioma, Coarctation of aorta, Cutis marmorata, Cutis marmorata telangiectatica congenita, Dilatation of the aortic arch, Dystrophic toenail, Failure to thrive, Finger syndactyly, Heart murmur, Hydrocephalus, Hypertension, Microphthalmia, Phenotypic variability, Pulmonary arterial hypertension, Pulmonary artery atresia, Pulmonic stenosis, Right ventricular hypertrophy, Short distal phalanx of finger, Sparse hair, Split hand, Strabismus, Syndactyly, Talipes, Tetralogy of Fallot, Thoracic aorta calcification
oRG	CAP1	0.732972039	7.86E-07	Unclassified	BrainSpLMD|10487	
oRG	DPY19L4	1.359160583	7.94E-07	Unclassified	BrainSpLMD|286148	OMIM|613895
oRG	MTHFD1L	1.108491373	8.10E-07	Enzyme: Ligase	BrainSpLMD|25902;Eurexp|euxassay_002080|Meckel's cartilage, foregut-midgut junction, hindgut, lobe, midgut, neural retina, orbito-sphenoid, rectum, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|611427
oRG	CCDC144CP	0.632005962	8.10E-07			
oRG	SNAPIN	0.423085108	8.19E-07	Membrane transport protein	BrainSpLMD|23557	OMIM|607007
oRG	HBEGF	0.676257798	8.20E-07	Growth factor	BrainSpLMD|1839;BrainSpMouseDev|14976	OMIM|126150
oRG	IGFBP5	0.81260801	8.25E-07	Adhesion molecule	BrainSpLMD|3488;Eurexp|euxassay_001623|limb, tail, vertebral axis muscle system;BrainSpMouseDev|15784	OMIM|146734
oRG	PGAM1	0.346946372	8.26E-07	Enzyme: Mutase		OMIM|172250
oRG	PGM3	0.746374459	8.29E-07	Enzyme: Mutase	BrainSpLMD|5238	OMIM|172100;HPO|5238|Allergic rhinitis, Asthma, Ataxia, Autosomal recessive inheritance, Bronchiectasis, Cognitive impairment, Conductive hearing impairment, Cortical myoclonus, Dysarthria, Eczema, Generalized hypotonia, Global developmental delay, High palate, Immunodeficiency, Intellectual disability, Lymphopenia, Neutropenia, Recurrent respiratory infections, Scoliosis, Sensorineural hearing impairment, Sensory impairment, Vasculitis in the skin
oRG	TPP1	1.216598782	8.54E-07	Serine protease	BrainSpLMD|1200;Eurexp|euxassay_002620|ventricular layer	OMIM|607998;HPO|1200|Abnormal nervous system electrophysiology, Ataxia, Autosomal recessive inheritance, Cerebral atrophy, Curvilinear intracellular accumulation of autofluorescent lipopigment storage material, Delayed speech and language development, Developmental regression, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigment, Myoclonus, Progressive visual loss, Retinal degeneration, Seizures, Undetectable electroretinogram
oRG	NBPF8	0.842285723	8.81E-07			OMIM|613998
oRG	CKB	0.463824556	8.82E-07	Enzyme: Phosphotransferase	BrainSpLMD|1152;Eurexp|euxassay_011493|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lung, mandible, mantle layer, maxilla, midgut, neural retina, oesophagus, olfactory, rectum, sternum, stomach, trigeminal V, ventral grey horn, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ, wall	OMIM|123280
oRG	PRDX6	0.607940158	9.10E-07	Enzyme: Peroxidase	BrainSpLMD|9588;Eurexp|euxassay_018727|floor plate, floorplate, hepatic duct, left lung, liver, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, olfactory, pancreas, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|602316
oRG	LPHN2	0.422176084	9.17E-07			
oRG	SIRT2	0.47729461	9.19E-07	Cell cycle control protein	BrainSpLMD|22933	OMIM|604480
oRG	SMAD5	0.598385203	9.27E-07	Transcription regulatory protein	BrainSpLMD|4090;Eurexp|euxassay_019553|incisor, lung, mantle layer, metanephros, molar, saccule, spleen primordium, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|16899	OMIM|603110
oRG	DYNC2LI1	0.451757859	9.32E-07	Motor protein	BrainSpLMD|51626	OMIM|617083;HPO|51626|Abnormality of oral frenula, Abnormality of oral mucosa, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the fingernails, Abnormality of the heart valves, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Aplasia/Hypoplasia of the lungs, Atrial septal defect, Atrioventricular canal defect, Autosomal recessive inheritance, Brachydactyly, Capitate-hamate fusion, Cone-shaped epiphysis, Conical incisor, Cryptorchidism, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Epispadias, Failure to thrive, Foot polydactyly, Genu valgum, Hand polydactyly, Hepatomegaly, Horizontal ribs, Hypodontia, Hypoplastic toenails, Hypospadias, Intrauterine growth retardation, Low-set ears, Microdontia, Micromelia, Nail dysplasia, Narrow chest, Neonatal short-limb short stature, Polyhydramnios, Postaxial hand polydactyly, Respiratory insufficiency, Short distal phalanx of finger, Short foot, Short ribs, Short stature, Short thorax, Situs inversus totalis, Skeletal dysplasia, Splenomegaly, Strabismus, Ventricular septal defect
oRG	REST	0.5575162	9.32E-07	Transcription regulatory protein	BrainSpLMD|5978;BrainSpMouseDev|19475	OMIM|600571;HPO|5978|Abdominal pain, Gingival fibromatosis, Gingival overgrowth, Nephroblastoma
oRG	SP1	0.898492365	9.96E-07	Transcription factor	BrainSpLMD|6667	OMIM|189906
oRG	OSBPL9	0.609871942	1.01E-06	Transport/cargo protein	BrainSpLMD|114883;Eurexp|euxassay_003963|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, trigeminal V	OMIM|606737
oRG	GDE1	0.7969052	1.02E-06	Anchor protein	BrainSpLMD|51573;Eurexp|euxassay_003384|bladder, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, left lung, loop, midgut, neural retina, olfactory, rectum, respiratory, right lung, stomach, stroma, thoracic, trigeminal V, urethra, vagus X, vestibulocochlear VIII	OMIM|605943
oRG	C1orf122	0.516770446	1.03E-06	Unclassified		
oRG	THAP5	0.482763994	1.03E-06	DNA binding protein	BrainSpLMD|168451	OMIM|612534
oRG	GPR75.ASB3	0.670965058	1.03E-06			
oRG	BIRC2	0.658634268	1.04E-06	Adapter molecule	BrainSpLMD|329;Eurexp|euxassay_013954|thymus primordium, ventricular layer	OMIM|601712
oRG	SORT1	0.704378427	1.04E-06	Cell surface receptor	BrainSpLMD|6272;BrainSpMouseDev|20423	OMIM|602458
oRG	RHEBP2	0.485368416	1.06E-06			
oRG	CHMP4B	0.824189294	1.12E-06	Transport/cargo protein	BrainSpLMD|128866	OMIM|610897;HPO|128866|Anterior subcapsular cataract, Autosomal dominant inheritance, Nuclear cataract, Posterior subcapsular cataract
oRG	NFU1	0.435993676	1.14E-06	Unclassified	BrainSpLMD|27247	OMIM|608100;HPO|27247|Autosomal recessive inheritance, Decreased activity of mitochondrial respiratory chain, Failure to thrive, Feeding difficulties, Global developmental delay, Lactic acidosis, Lethargy, Muscle weakness, Pulmonary arterial hypertension, Respiratory failure
oRG	EFR3B	0.3741999	1.15E-06	Unclassified	BrainSpLMD|22979	OMIM|616797
oRG	SNX2	0.493637625	1.15E-06	Transport/cargo protein	BrainSpLMD|6643	OMIM|605929
oRG	TMCO1	0.40174037	1.15E-06	Integral membrane protein	BrainSpLMD|54499;Eurexp|euxassay_010558|clavicle, mandible, maxilla, rib	OMIM|614123;HPO|54499|Bifid ribs, Brachycephaly, Broad philtrum, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Coarse hair, Downslanted palpebral fissures, Epicanthus, Hemivertebrae, Hernia, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Low posterior hairline, Low-set, posteriorly rotated ears, Macrocephaly, Midface retrusion, Narrow chest, Polyhydramnios, Rib fusion, Scoliosis, Short neck, Short nose, Short stature, Sprengel anomaly, Strabismus, Synophrys, Thick eyebrow, Ventriculomegaly, Wide mouth, Wide nose
oRG	TBL1X	1.359160297	1.17E-06	Cell cycle control protein	BrainSpLMD|6907	SFARI||Autism, 4 - Minimal evidence;OMIM|300196
oRG	FAM120C	1.534758947	1.19E-06	Integral membrane protein	BrainSpLMD|54954	OMIM|300741
oRG	EMC2	1.002056169	1.20E-06	Unclassified	BrainSpLMD|9694	OMIM|607722
oRG	PPP1R9A	0.29838906	1.21E-06	Cytoskeletal associated protein	Eurexp|euxassay_012258|choroid plexus, mantle layer, skeletal muscle, ventricular layer	OMIM|602468
oRG	DCAF13	0.397387572	1.22E-06	Unclassified	BrainSpLMD|25879	OMIM|616196
oRG	FUCA2	1.759318082	1.22E-06	Enzyme: Hydrolase	BrainSpLMD|2519;Eurexp|euxassay_016437|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	OMIM|136820
oRG	HIPK1	0.402653889	1.24E-06	Serine/threonine kinase	BrainSpLMD|204851	OMIM|608003
oRG	TARBP1	0.470704266	1.24E-06	RNA binding protein	BrainSpLMD|6894	OMIM|605052
oRG	FAM111A	0.588276628	1.25E-06	Unclassified	BrainSpLMD|63901;Eurexp|euxassay_011616|lobe, mandible, maxilla, orbito-sphenoid, thymus primordium, thyroid, ventricular layer	OMIM|615292;HPO|63901|Abnormality of the medullary cavity of the long bones, Anemia, Aniridia, Ankyloglossia, Ascites, Autosomal dominant inheritance, Basal ganglia calcification, Brachydactyly, Congenital cataract, Delayed closure of the anterior fontanelle, Failure to thrive, Flared metaphysis, Global developmental delay, Hydrocephalus, Hypermetropia, Hypocalcemia, Hypoparathyroidism, Hypoplastic spleen, Increased bone mineral density, Macrocephaly, Micropenis, Microphthalmia, Papilledema, Prominent forehead, Retinal calcification, Seizures, Severe short stature, Short stature, Slender long bone, Small for gestational age, Thickened cortex of long bones, Transient hypophosphatemia
oRG	GUF1	1.120619689	1.29E-06	Unclassified	BrainSpLMD|60558	OMIM|617064;HPO|60558|Abnormality of skin morphology, Autosomal recessive inheritance, Cerebral cortical atrophy, Choreoathetosis, Developmental regression, Epileptic encephalopathy, Hypsarrhythmia, Infantile spasms, Intellectual disability, profound, Myoclonus, Seizures, Spasticity
oRG	REEP5	0.486231931	1.31E-06	Integral membrane protein	BrainSpLMD|7905;Eurexp|euxassay_004460|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|125265
oRG	PTGR1	0.562762898	1.32E-06	Enzyme: Dehydrogenase	BrainSpLMD|22949	OMIM|601274
oRG	ZFYVE16	0.300451412	1.33E-06	Membrane transport protein	BrainSpLMD|9765	OMIM|608880
oRG	PPP1CB	0.635616881	1.38E-06	Serine/threonine phosphatase	BrainSpLMD|5500	OMIM|600590;HPO|5500|Arnold-Chiari type I malformation, Autosomal dominant inheritance, Broad neck, Cafe-au-lait spot, Coarctation of aorta, Craniosynostosis, Cryptorchidism, Dandy-Walker malformation, Delayed skeletal maturation, Delayed speech and language development, Dermal translucency, Downslanted palpebral fissures, Failure to thrive, Freckling, Generalized hypotonia, Global developmental delay, High palate, Hypertelorism, Joint hypermobility, Low-set ears, Mitral regurgitation, Optic nerve hypoplasia, Overfolded helix, Patent ductus arteriosus, Patent foramen ovale, Peripheral pulmonary artery stenosis, Posteriorly rotated ears, Prominent forehead, Pulmonic stenosis, Right bundle branch block, Short neck, Short stature, Slow-growing hair, Sparse hair, Thickened helices, Ventricular septal defect, Webbed neck
oRG	SELK	0.471022408	1.39E-06			
oRG	B3GALNT1	0.348977221	1.43E-06	Enzyme: Galactosyltransferase	BrainSpLMD|8706;Eurexp|euxassay_003465|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn	OMIM|603094
oRG	CHMP2A	0.435437814	1.44E-06	Transport/cargo protein	BrainSpLMD|27243;Eurexp|euxassay_001955|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, olfactory, pancreas, rectum, spinal cord, thoracic, thymus primordium, trigeminal V, urethra, vibrissa	OMIM|610893
oRG	CTDSP2	0.405073811	1.45E-06	Enzyme: Phosphatase	BrainSpLMD|10106;Eurexp|euxassay_004324|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail	OMIM|608711
oRG	EPS15	0.737524671	1.47E-06	Calcium binding protein	BrainSpLMD|2060;Eurexp|euxassay_005655|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|600051;COSMIC||ALL
oRG	DDB1	0.459551566	1.47E-06	DNA binding protein	BrainSpLMD|1642	OMIM|600045
oRG	CDC42SE2	0.461846239	1.48E-06	Unclassified	BrainSpLMD|56990	
oRG	AFMID	0.899489439	1.49E-06	Unclassified		
oRG	IFT43	0.464482985	1.56E-06	Unclassified	BrainSpLMD|112752	OMIM|614068;HPO|112752|Abnormal diaphysis morphology, Abnormal toenail morphology, Abnormality of the fingernails, Abnormality of the metaphysis, Anteverted nares, Autosomal recessive inheritance, Brachydactyly, Broad nail, Craniosynostosis, Cutis laxa, Dolichocephaly, Dry skin, Ectodermal dysplasia, Epicanthus, Everted lower lip vermilion, Fine hair, Finger syndactyly, Frontal bossing, Hypodontia, Hypoplasia of teeth, Hypotelorism, Joint hyperflexibility, Joint laxity, Microdontia, Narrow chest, Nephronophthisis, Osteoporosis, Pectus excavatum, Prominent occiput, Rhizomelia, Short distal phalanx of finger, Short nail, Short stature, Sparse hair, Syndactyly, Widely spaced teeth
oRG	ARL6IP6	0.751431999	1.57E-06	Unclassified	BrainSpLMD|151188;Eurexp|euxassay_011620|olfactory, submandibular gland primordium, ventricular layer	OMIM|616495
oRG	CSTB	0.381021835	1.58E-06	Protease inhibitor	BrainSpLMD|1476;Eurexp|euxassay_009738|bladder, mandible, maxilla, stomach, thymus primordium	OMIM|601145;HPO|1476|Absence seizures, Ataxia, Autosomal recessive inheritance, Dysarthria, EEG with polyspike wave complexes, Generalized tonic-clonic seizures, Intention tremor, Limb ataxia, Mental deterioration, Morning myoclonic jerks, Myoclonus
oRG	CAPNS1	0.70800595	1.58E-06	Regulatory/other subunit	BrainSpLMD|826;Eurexp|euxassay_007147|mantle layer, nucleus pulposus, ventral grey horn	OMIM|114170
oRG	METTL2A	0.562279631	1.58E-06	Unclassified	BrainSpLMD|339175;Eurexp|euxassay_005901|embryo	
oRG	RP11.384F7.2	0.465461287	1.64E-06			
oRG	FAM208A	0.429295963	1.64E-06	Cell cycle control protein	BrainSpLMD|23272	OMIM|616493
oRG	WRB	0.275396198	1.65E-06	Unclassified	BrainSpLMD|7485;Eurexp|euxassay_005059|brain, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, loop, mandible, maxilla, midgut, orbito-sphenoid, rectum, spinal cord, stomach, trigeminal V, vagus X, vestibulocochlear VIII, wall	OMIM|602915
oRG	MAP1A	0.84448188	1.66E-06	Cytoskeletal associated protein	BrainSpLMD|4130	OMIM|600178
oRG	IVD	0.818510456	1.66E-06	Enzyme: Dehydrogenase	BrainSpLMD|3712	OMIM|607036;HPO|3712|Autosomal recessive inheritance, Bone marrow hypocellularity, Coma, Dehydration, Global developmental delay, Hyperglycinuria, Ketoacidosis, Lethargy, Leukopenia, Metabolic acidosis, Pancytopenia, Seizures, Thrombocytopenia, Vomiting
oRG	IFNAR1	0.37423416	1.69E-06	Cytokine receptor	BrainSpLMD|3454;Eurexp|euxassay_010150|left, right	OMIM|107450
oRG	HMGCL	0.50168862	1.70E-06	Enzyme: Lyase	BrainSpLMD|3155;Eurexp|euxassay_018408|liver	OMIM|613898;HPO|3155|3-Methylglutaric aciduria, Autosomal recessive inheritance, Coma, Death in childhood, Decreased plasma carnitine, Excessive daytime somnolence, Fever, Glutaric aciduria, Hepatomegaly, Hyperammonemia, Hypoglycemia, Metabolic acidosis
oRG	SRP9	0.283814089	1.70E-06	RNA binding protein		OMIM|600707
oRG	DNPH1	1.163530571	1.71E-06	Unclassified	BrainSpLMD|10591	
oRG	DYNC2H1	0.771035611	1.73E-06	Motor protein	Eurexp|euxassay_014017|olfactory, ventricular layer	OMIM|603297;HPO|79659|Abdominal distention, Abnormal pelvis bone ossification, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Brachydactyly, Cleft upper lip, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypoplasia of penis, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Narrow chest, Postaxial hand polydactyly, Renal hypoplasia, Respiratory insufficiency, Short foot, Short palm, Short ribs, Short thorax, Skeletal dysplasia, Urethrovaginal fistula, Uterus didelphys, Wide nose
oRG	NLGN4X	0.835766231	1.75E-06	Adhesion molecule;Integral membrane protein	BrainSpLMD|57502	SFARI||Autism, 3 - Suggestive evidence;OMIM|300427;HPO|57502|Autism, Childhood onset, Delayed speech and language development, EEG abnormality, Heterogeneous, Impaired use of nonverbal behaviors, Increased serum serotonin, Inflexible adherence to routines or rituals, Intellectual disability, Lack of peer relationships, Lack of spontaneous play, Multifactorial inheritance, Restrictive behavior, Seizures, Sporadic, Stereotypy, X-linked inheritance
oRG	B3GNT1	0.389109694	1.75E-06			
oRG	C1QTNF3	0.593276363	1.79E-06	Secreted polypeptide	BrainSpLMD|114899;Eurexp|euxassay_001714|axial muscle, limb, lower jaw, molar, nucleus pulposus, pectoral girdle and thoracic body wall, tail, upper jaw, ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|612045
oRG	THSD7A	0.871445203	1.82E-06	Unclassified	Eurexp|euxassay_013737|calyces, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, mesenchyme, midgut, neural retina, olfactory, stomach, thyroid, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612249
oRG	AHNAK	1.243811472	1.82E-06	Unclassified	BrainSpLMD|79026	OMIM|103390
oRG	CAPN2	0.79868302	1.84E-06	Cysteine protease	BrainSpLMD|824;Eurexp|euxassay_015893|floor plate, floorplate, mantle layer	OMIM|114230
oRG	PSMD10	0.520447649	1.88E-06	Regulatory/other subunit	BrainSpLMD|5716	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300880
oRG	RP11.147L13.12	0.34354893	1.89E-06			
oRG	STAG3L4	0.702348394	1.92E-06	Unclassified	BrainSpLMD|64940	
oRG	CSGALNACT1	1.017610524	1.95E-06	Enzyme: Transferase	BrainSpLMD|55790	OMIM|616615
oRG	SPOP	0.472297552	1.98E-06	Transcription regulatory protein	BrainSpLMD|8405;Eurexp|euxassay_007475|embryo	OMIM|602650;COSMIC||prostate, endometrial, prostate cancer
oRG	BDH2	0.444711625	1.98E-06	Enzyme: Oxidoreductase	BrainSpLMD|56898	
oRG	PPP2R5A	1.601501732	2.00E-06	Serine/threonine phosphatase	BrainSpLMD|5525	OMIM|601643
oRG	DNAH14	0.866664928	2.03E-06	Motor protein	BrainSpLMD|127602	OMIM|603341
oRG	SNORD14E	0.468137359	2.06E-06			
oRG	RFX3	0.567654304	2.07E-06	Transcription factor	BrainSpLMD|5991	SFARI||Autism, 4 - Minimal evidence;OMIM|601337
oRG	DENND5A	0.25059122	2.14E-06	Unclassified	BrainSpLMD|23258	OMIM|617278
oRG	TANC1	1.423259291	2.22E-06	Unclassified	Eurexp|euxassay_012462|mandible, maxilla, metanephros, ventricular layer	OMIM|611397
oRG	SCUBE1	1.231243865	2.22E-06	Secreted polypeptide	BrainSpLMD|80274;BrainSpMouseDev|41281	OMIM|611746
oRG	CECR1	1.063894211	2.31E-06			
oRG	SMARCA2	0.386717508	2.31E-06	Transcription factor	BrainSpLMD|6595;Eurexp|euxassay_000790|cerebral cortex, mesenchyme	SFARI||Autism, No category;OMIM|600014;HPO|6595|Abnormal hair pattern, Abnormality of the metacarpal bones, Absence seizures, Absent eyebrow, Absent speech, Aggressive behavior, Alopecia, Anteverted nares, Aphasia, Autosomal dominant inheritance, Blepharophimosis, Brachydactyly, Broad distal phalanx of finger, Broad philtrum, Clubbing of toes, Cryptorchidism, Curly eyelashes, Dysphasia, Echolalia, Eczema, Epileptic spasms, Everted lower lip vermilion, Excessive wrinkled skin, Failure to thrive, Global developmental delay, High, narrow palate, Highly arched eyebrow, Hypotrichosis, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint dislocation, Long eyelashes, Long philtrum, Low anterior hairline, Microcephaly, Mutism, Narrow nasal bridge, Poor speech, Prominent interphalangeal joints, Sandal gap, Scoliosis, Seizures, Severe short stature, Short metacarpal, Short metatarsal, Short palm, Short palpebral fissure, Short phalanx of finger, Smooth philtrum, Sparse scalp hair, Specific learning disability, Status epilepticus, Thick lower lip vermilion, Thick nasal alae, Thin vermilion border, Triangular face, Wide intermamillary distance, Wide mouth, Wide nasal base
oRG	DNMBP	1.516145749	2.32E-06	Guanine nucleotide exchange factor	BrainSpLMD|23268;Eurexp|euxassay_016234|lens	OMIM|611282
oRG	ETFA	0.696907309	2.37E-06	Membrane transport protein	BrainSpLMD|2108;Eurexp|euxassay_002051|thymus primordium, ventricular layer	OMIM|608053;HPO|2108|Abnormal facial shape, Abnormality of the genital system, Abnormality of the pinna, Autosomal recessive inheritance, Congenital cataract, Defective dehydrogenation of isovaleryl CoA and butyryl CoA, Depressed nasal bridge, Electron transfer flavoprotein-ubiquinone oxidoreductase defect, Ethylmalonic aciduria, Generalized aminoaciduria, Gliosis, Glutaric acidemia, Glutaric aciduria, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, High forehead, Hypoglycemia, Hypoglycemic coma, Jaundice, Macrocephaly, Muscle weakness, Muscular hypotonia, Nausea, Neonatal death, Pachygyria, Polycystic kidney dysplasia, Proximal tubulopathy, Pulmonary hypoplasia, Renal cortical cysts, Respiratory distress, Telecanthus, Vomiting, Wide anterior fontanel
oRG	NDUFV3	0.366591933	2.44E-06	Enzyme: Oxidoreductase	BrainSpLMD|4731;Eurexp|euxassay_003892|dorsal root ganglion, glossopharyngeal IX, trigeminal V	OMIM|602184
oRG	CHCHD5	0.331926935	2.47E-06	Unclassified	BrainSpLMD|84269;Eurexp|euxassay_002823|orbito-sphenoid, turbinate	OMIM|616978
oRG	DNTTIP1	0.729445898	2.48E-06	DNA binding protein	BrainSpLMD|116092	OMIM|611388
oRG	PELI2	0.569309941	2.50E-06	Unclassified	BrainSpLMD|57161;Eurexp|euxassay_014344|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|614798
oRG	VGLL4	0.704014817	2.54E-06	Transcription regulatory protein	BrainSpLMD|9686;Eurexp|euxassay_000238|incisor, lung, molar, submandibular gland primordium, vibrissa	
oRG	SGCE	0.883101732	2.54E-06	Extracellular matrix protein	BrainSpLMD|8910	OMIM|604149;HPO|8910|Agoraphobia, Anxiety, Autosomal dominant inheritance, Depressivity, Incomplete penetrance, Juvenile onset, Myoclonus, Obsessive-compulsive behavior, Torticollis, Tremor, Writer's cramp
oRG	EPRS	0.292748236	2.55E-06	Enzyme: Ligase	BrainSpLMD|2058;Eurexp|euxassay_008064|mandible, maxilla, orbito-sphenoid, rib	OMIM|138295
oRG	SRPK2	0.561936837	2.56E-06	Serine/threonine kinase	BrainSpLMD|6733;Eurexp|euxassay_018943|brain, glossopharyngeal IX, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20579	OMIM|602980
oRG	CCNG1	0.409791831	2.57E-06	Cell cycle control protein	BrainSpLMD|900;Eurexp|euxassay_011875|trigeminal V;BrainSpMouseDev|12235	OMIM|601578
oRG	ST8SIA1	0.291725605	2.58E-06	Enzyme: Sialyltransferase	BrainSpLMD|6489;Eurexp|euxassay_000637|dorsal root ganglion, inferior, superior, trigeminal V, vagus X	OMIM|601123
oRG	WBP4	0.513038439	2.66E-06	RNA binding protein	BrainSpLMD|11193	OMIM|604981
oRG	FEZ2	0.784167346	2.73E-06	Unclassified	BrainSpLMD|9637	OMIM|604826
oRG	CCDC181	0.449100663	2.75E-06	Unclassified	BrainSpLMD|57821;Eurexp|euxassay_004163|3rd ventricle, 4th ventricle, choroid invagination	
oRG	RP11.553L6.5	0.363774288	2.77E-06			
oRG	SMIM7	0.263757267	2.92E-06	Unclassified	BrainSpLMD|79086	
oRG	OTUD7B	0.869704054	3.00E-06	Ubiquitin proteasome system protein	BrainSpLMD|56957	OMIM|611748
oRG	MIR568	0.33929039	3.07E-06			
oRG	PLCG1	0.498233364	3.22E-06	Enzyme: Phospholipase	BrainSpLMD|5335;BrainSpMouseDev|18567	OMIM|172420;COSMIC||angiosarcoma
oRG	CEBPZOS	0.448604849	3.32E-06			
oRG	CNTNAP3	0.64309241	3.41E-06	Adhesion molecule	Eurexp|euxassay_013224|mantle layer	SFARI||Autism, No category;OMIM|610517
oRG	ATF7	0.756929517	3.45E-06	Transcription factor	BrainSpLMD|11016	OMIM|606371
oRG	EPB41L4A	0.509721601	3.48E-06	Structural protein	BrainSpLMD|64097;Eurexp|euxassay_010576|anterior, basal columns, cervical, cervico-thoracic, choroid invagination, choroid plexus, dorsal root ganglion, ear, facial VII, glossopharyngeal IX, incisor, lens, mantle layer, marginal layer, midgut, molar, neural retina, olfactory, rectum, rest of skin, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|612141
oRG	KIF1B	0.640612205	3.58E-06	Motor protein	BrainSpLMD|23095;Eurexp|euxassay_013179|diaphragm, floor plate, floorplate, footplate, handplate, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, ventricular layer, vertebral axis muscle system	OMIM|605995;HPO|23095|Areflexia, Autosomal dominant inheritance, Axonal degeneration/regeneration, Cafe-au-lait spot, Cerebral hemorrhage, Congenital cataract, Congestive heart failure, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Elevated urinary norepinephrine, Episodic hypertension, Foot dorsiflexor weakness, Hammertoe, Hemangioma, Heterogeneous, Hypercalcemia, Hyperhidrosis, Hypertensive retinopathy, Hyporeflexia, Neoplasm, Onion bulb formation, Onset, Peripheral axonal atrophy, Pes cavus, Pheochromocytoma, Positive regitine blocking test, Proteinuria, Renal artery stenosis, Slow progression, Steppage gait, Tachycardia
oRG	PSMB6	0.267151538	3.67E-06	Ubiquitin proteasome system protein	BrainSpLMD|5694	OMIM|600307
oRG	TMEM216	0.771980608	3.76E-06	Unclassified	BrainSpLMD|51259	OMIM|613277;HPO|51259|Abnormal renal physiology, Abnormality of saccadic eye movements, Abnormality of the corpus callosum, Abnormality of the foot, Agenesis of cerebellar vermis, Anencephaly, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autistic behavior, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Blindness, Bowing of the long bones, Brainstem dysplasia, Cataract, Central apnea, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cleft palate, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Depressed nasal ridge, Dolichocephaly, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar peduncle, Encephalocele, Enlarged fossa interpeduncularis, Episodic tachypnea, Esotropia, Failure to thrive, Frontal bossing, Full cheeks, Generalized hypotonia, Global developmental delay, Heterogeneous, High palate, Hydrocephalus, Hypertelorism, Hypoplasia of the brainstem, Hypoplastic male external genitalia, Impaired smooth pursuit, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Meningocele, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nephropathy, Nystagmus, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic nerve coloboma, Phenotypic variability, Polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Ptosis, Renal cyst, Retinal dystrophy, Sclerocornea, Sloping forehead, Tachypnea, Talipes, Thickened superior cerebellar peduncle, Visual impairment
oRG	LIX1L	0.687954314	3.82E-06	Unclassified	BrainSpLMD|128077	
oRG	YIF1A	1.02514598	3.83E-06	Integral membrane protein	BrainSpLMD|10897	OMIM|611484
oRG	FAM127A	0.595647259	3.90E-06			
oRG	ACBD5	0.742142443	3.94E-06	Unclassified	BrainSpLMD|91452;Eurexp|euxassay_004319|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|616618
oRG	RPA1	0.399132536	4.01E-06	DNA binding protein	BrainSpLMD|6117;Eurexp|euxassay_008207|ventricular layer	OMIM|179835
oRG	HINT3	0.651848444	4.02E-06	Unclassified	BrainSpLMD|135114	OMIM|609998
oRG	GJC1	0.594390161	4.03E-06	Transport/cargo protein	BrainSpLMD|10052;Eurexp|euxassay_012257|cortex, incisor, mantle layer, trachea, ventricular layer	OMIM|608655
oRG	RNF216P1	0.988573221	4.09E-06		BrainSpLMD|441191	
oRG	C2orf76	0.992246457	4.14E-06	Unclassified		
oRG	RNF217	0.338709545	4.16E-06	Integral membrane protein	BrainSpLMD|154214;Eurexp|euxassay_010804|adrenal gland, mantle layer, vertebral axis muscle system	
oRG	GNPTG	0.908457535	4.21E-06	Enzyme: Phosphotransferase	BrainSpLMD|84572	OMIM|607838;HPO|84572|Abnormality of the hand, Abnormality of the rib cage, Aortic regurgitation, Aortic valve stenosis, Arthralgia, Autosomal recessive inheritance, Coarse facial features, Dysostosis multiplex, Flared iliac wings, Flat capital femoral epiphysis, Genu valgum, Hyperlordosis, Increased serum beta-hexosaminidase, Increased serum iduronate sulfatase activity, Intellectual disability, mild, Joint stiffness, Kyphosis, Myopia, Opacification of the corneal stroma, Pectus carinatum, Scoliosis, Short neck, Short stature
oRG	MASP1	0.736697799	4.31E-06	Serine protease	BrainSpLMD|5648	OMIM|600521;HPO|5648|Abnormality of eye movement, Abnormality of the anterior chamber, Atrial septal defect, Autosomal recessive inheritance, Bilateral cryptorchidism, Blepharophimosis, Broad foot, Caudal appendage, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Conductive hearing impairment, Conjunctival telangiectasia, Coronal craniosynostosis, Craniosynostosis, Dental crowding, Diastasis recti, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus inversus, Glaucoma, Growth delay, Hearing impairment, Highly arched eyebrow, Hydronephrosis, Hyperlordosis, Hypertelorism, Intellectual disability, Intellectual disability, mild, Lambdoidal craniosynostosis, Large fleshy ears, Limited pronation/supination of forearm, Microcephaly, Omphalocele, Oral cleft, Patent ductus arteriosus, Postnatal growth retardation, Ptosis, Radioulnar synostosis, Sacral dimple, Scoliosis, Short 5th finger, Short foot, Single interphalangeal crease of fifth finger, Skull asymmetry, Spina bifida occulta, Supernumerary nipple, Telecanthus, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide anterior fontanel
oRG	SMIM20	0.993246578	4.33E-06	Unclassified		OMIM|617465
oRG	TAF9	0.52701816	4.40E-06	Transcription regulatory protein	BrainSpLMD|6880;Eurexp|euxassay_002090|thymus primordium;BrainSpMouseDev|72303	OMIM|600822
oRG	RAB10	0.521551678	4.42E-06	GTPase	BrainSpLMD|10890;Eurexp|euxassay_008412|embryo	OMIM|612672
oRG	KLHL25	0.402182482	4.61E-06	Cytoskeletal associated protein	BrainSpLMD|64410;Eurexp|euxassay_007106|embryo	
oRG	PREX1	1.167907812	4.63E-06	Guanine nucleotide exchange factor	BrainSpLMD|57580;Eurexp|euxassay_007998|femur, humerus, mandible, mantle layer, marginal layer, maxilla, orbito-sphenoid, palatal shelf, rib, ventricular layer	SFARI||Autism, 3 - Suggestive evidence;OMIM|606905
oRG	C14orf159	1.42170616	4.66E-06			
oRG	P4HB	0.848779962	4.66E-06	Enzyme: Isomerase		OMIM|176790;HPO|5034|Abnormal form of the vertebral bodies, Abnormality of dental enamel, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the voice, Autosomal dominant inheritance, Blue sclerae, Bowing of the long bones, Communicating hydrocephalus, Coronal craniosynostosis, Crumpled long bones, Delayed eruption of teeth, Frontal bossing, High pitched voice, Intrauterine growth retardation, Kyphosis, Microdontia, Micrognathia, Midface retrusion, Muscular hypotonia, Orbital craniosynostosis, Osteopenia, Proptosis, Recurrent fractures, Scoliosis, Shallow orbits, Short stature, Skeletal dysplasia, Turricephaly, Vertebral compression fractures, Wormian bones
oRG	ZDHHC13	0.3283949	4.75E-06	Unclassified	BrainSpLMD|54503;Eurexp|euxassay_013713|cortex, epithelium, molar, olfactory, vibrissa, vomeronasal organ	OMIM|612815
oRG	ARID5B	0.603615554	4.78E-06	DNA binding protein	Eurexp|euxassay_016566|mantle layer;BrainSpMouseDev|47212	OMIM|608538
oRG	NRBP2	0.880811805	5.03E-06	Unclassified	BrainSpLMD|340371	OMIM|615563
oRG	PRKDC	0.25477821	5.26E-06	Serine/threonine kinase;DNA repair protein	BrainSpLMD|5591;Eurexp|euxassay_009524|thymus primordium	SFARI||Autism, 4 - Minimal evidence;OMIM|600899;HPO|5591|Autosomal recessive inheritance, Infantile onset, Microcephaly, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Severe combined immunodeficiency
oRG	TNKS2	0.284004051	5.38E-06	Enzyme: Ribosyltransferase	BrainSpLMD|80351;Eurexp|euxassay_008543|vibrissa	OMIM|607128
oRG	GTF2F2	0.60593786	5.51E-06	Transcription factor	BrainSpLMD|2963	OMIM|189969
oRG	MORF4L1P1	0.306572395	5.57E-06			
oRG	LRRC37A16P	0.566299923	5.59E-06			
oRG	HIATL1	0.351654136	5.62E-06			
oRG	LAPTM4A	0.44685949	5.64E-06	Membrane transport protein	BrainSpLMD|9741	
oRG	IQGAP1	0.522967482	5.79E-06	GTPase activating protein	BrainSpLMD|8826;Eurexp|euxassay_010153|choroid plexus, epithelium, hindgut, lung, mandible, metanephros, midgut, oral epithelium, orbito-sphenoid, vibrissa	OMIM|603379
oRG	LRRC58	0.323970672	5.81E-06	Unclassified		
oRG	XPOT	0.405938036	6.07E-06	Transport/cargo protein	BrainSpLMD|11260	OMIM|603180
oRG	FAM134A	0.472882154	6.12E-06			
oRG	PAAF1	1.142631118	6.15E-06	Ubiquitin proteasome system protein	BrainSpLMD|80227	
oRG	MAP1LC3B	0.61944894	6.18E-06	Unclassified	BrainSpLMD|81631	OMIM|609604
oRG	TIMP1	1.03676007	6.36E-06	Extracellular matrix protein	BrainSpLMD|7076;Eurexp|euxassay_000782|Meckel's cartilage, axial skeleton, chondrocranium, molar	OMIM|305370
oRG	PPA1	0.40265345	6.43E-06	Enzyme: Phosphohydrolase	BrainSpLMD|5464;Eurexp|euxassay_004470|bladder, cranium, forelimb, hindlimb, incisor, lung, mandible, maxilla, mesenchyme, metanephros, midgut, nasal septum, olfactory, orbito-sphenoid, palatal shelf, pancreas, respiratory, submandibular gland primordium, tail, turbinate bones, vibrissa	OMIM|179030
oRG	ATP6V0E2	0.451255967	6.50E-06	ATPase	BrainSpLMD|155066;Eurexp|euxassay_009946|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611019
oRG	XYLT2	0.448509906	6.50E-06	Enzyme: Transferase	BrainSpLMD|64132;Eurexp|euxassay_005092|dorsal root ganglion, trigeminal V, ventricular layer	OMIM|608125;HPO|64132|Abnormality of the eyebrow, Abnormality of the intervertebral disk, Amblyopia, Aplasia/Hypoplasia of the lens, Atrial septal defect, Autosomal recessive inheritance, Cataract, Disproportionate short-trunk short stature, Facial hypotonia, Hypertelorism, Iris hypopigmentation, Long fingers, Long toe, Low posterior hairline, Low-set ears, Microphthalmia, Mitral valve prolapse, Muscle weakness, Nystagmus, Osteopenia, Osteoporosis, Pes planus, Platyspondyly, Posteriorly rotated ears, Retinal detachment, Sensorineural hearing impairment, Shield chest, Short neck, Thoracic kyphosis, Ventricular septal defect, Vertebral compression fractures, Visual loss, Webbed neck
oRG	NDUFB3	0.526808384	6.70E-06	Enzyme: Oxidoreductase	BrainSpLMD|4709	OMIM|603839;HPO|4709|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
oRG	AAMDC	0.67549135	6.70E-06	Unclassified	BrainSpLMD|28971	
oRG	UBE2L3	0.497014786	6.75E-06	Ubiquitin proteasome system protein	BrainSpLMD|7332	OMIM|603721
oRG	NEK6	0.529729698	7.02E-06	Serine/threonine kinase	BrainSpLMD|10783	OMIM|604884
oRG	CAMK2G	0.437636984	7.05E-06	Serine/threonine kinase	BrainSpLMD|818;Eurexp|euxassay_017931|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602123
oRG	WBP1L	0.372308122	7.47E-06	Integral membrane protein	BrainSpLMD|54838;Eurexp|euxassay_007077|cortex	OMIM|611129
oRG	GRHPR	0.428346792	7.56E-06	Enzyme: Reductase	BrainSpLMD|9380;Eurexp|euxassay_000601|adrenal gland	OMIM|604296;HPO|9380|Aminoaciduria, Autosomal recessive inheritance, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Variable expressivity
oRG	CLNS1A	0.287612681	7.58E-06	Transport/cargo protein	BrainSpLMD|1207	OMIM|602158
oRG	GSTM2	0.27775909	7.61E-06	Enzyme: Glutathione transferase	BrainSpLMD|2946;Eurexp|euxassay_010417|mantle layer, olfactory, renal/urinary system, testis	OMIM|138380
oRG	IFT74	0.270495382	7.62E-06	Unclassified	BrainSpLMD|80173;Eurexp|euxassay_011501|olfactory	OMIM|608040;HPO|80173|Autosomal recessive inheritance, Hypogonadism, Intellectual disability, Microcephaly, Obesity, Polydactyly, Rod-cone dystrophy
oRG	TMEM230	0.274781095	7.82E-06	Integral membrane protein	BrainSpLMD|29058	OMIM|617019
oRG	KIAA0319L	0.291441417	8.08E-06	Integral membrane protein	BrainSpLMD|79932;Eurexp|euxassay_005035|adenohypophysis, brain, dorsal root ganglion, glossopharyngeal IX, hindgut, loop, midgut, olfactory, rectum, respiratory, spinal cord, stomach, trigeminal V, vestibulocochlear VIII	OMIM|613535;HPO|79932|Autoimmunity, Dysphagia, Gastroesophageal reflux, Hypopigmented skin patches, Mucosal telangiectasiae, Narrow foramen obturatorium, Nausea and vomiting, Skin ulcer, Telangiectasia of the skin
oRG	SCOC	0.291572401	8.17E-06	Unclassified	BrainSpLMD|60592;Eurexp|euxassay_002885|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X	
oRG	KIF5B	0.335211661	8.17E-06	Motor protein	BrainSpLMD|3799;Eurexp|euxassay_019750|olfactory	OMIM|602809;COSMIC||NSCLC, Spitzoid tumour
oRG	CRISPLD1	0.400947968	8.20E-06	Secreted polypeptide	BrainSpLMD|83690;Eurexp|euxassay_010145|axial skeleton, basioccipital bone, basisphenoid bone, cartilaginous ring, clavicle, femur, fibula, humerus, mandible, maxilla, meninges, nasal cavity, orbito-sphenoid, petrous part, phalanx, rib, sternum, tarsus, thyroid, tibia, vault of skull	
oRG	CHRNB1	1.148381299	8.21E-06	Cell surface receptor	BrainSpLMD|1140;Eurexp|euxassay_006741|diaphragm, extrinsic, handplate, left lung, other mesenchyme, paraxial mesenchyme, rest of mesenchyme, right lung, skeletal muscle, vertebral axis muscle system	OMIM|100710;HPO|1140|Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital onset, Easy fatigability, Facial palsy, Feeding difficulties, High palate, Long face, Muscle weakness, Muscular hypotonia, Narrow face, Neonatal hypotonia, Ophthalmoplegia, Ptosis, Respiratory insufficiency, Skeletal muscle atrophy
oRG	TANC2	0.553188919	8.38E-06	Unclassified		SFARI||Autism, 4 - Minimal evidence;OMIM|615047
oRG	BICD2	0.327567135	8.41E-06	Structural protein	BrainSpLMD|23299;Eurexp|euxassay_012575|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|609797;HPO|23299|Achilles tendon contracture, Areflexia, Autosomal dominant inheritance, Axial muscle weakness, Difficulty running, Gowers sign, Hyporeflexia, Motor delay, Spinal muscular atrophy, Talipes equinovarus, Toe walking, Variable expressivity, Waddling gait
oRG	PDCD6IP	0.339290609	8.46E-06	Unclassified	BrainSpLMD|10015;Eurexp|euxassay_012643|hindgut, midgut, rectum, thymus primordium	OMIM|608074
oRG	SLC25A23	0.380328355	8.51E-06	Calcium binding protein	BrainSpLMD|79085	OMIM|608746
oRG	NDUFC2	0.552880378	8.67E-06	Enzyme: Oxidoreductase	BrainSpLMD|4718	OMIM|603845
oRG	LTA4H	0.362701998	9.12E-06	Enzyme: Hydrolase	BrainSpLMD|4048	OMIM|151570
oRG	NFIC	0.87829874	9.16E-06	Transcription factor	BrainSpLMD|4782;Eurexp|euxassay_008959|mesenchyme;BrainSpMouseDev|17796	OMIM|600729
oRG	HS6ST1	0.28402494	9.18E-06	Enzyme: Sulphotransferase	Eurexp|euxassay_006185|bladder, brain, calyces, cochlea, dorsal root ganglion, epithelium, facial VII, ganglion, glossopharyngeal IX, incisor, left lung, liver, marginal layer, midgut, molar, neural retina, olfactory, oral epithelium, pancreas, paraxial mesenchyme, pelvis, pharyngo-tympanic tube, primitive seminiferous tubules, rectum, rest of mesenchyme, retina, right lung, skeletal muscle, spinal cord, stomach, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, ureter, urethra, utricle, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|604846;HPO|9394|Abnormality of body height, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Anosmia, Anterior hypopituitarism, Anxiety, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Depressivity, Erectile abnormalities, Eunuchoid habitus, Female hypogonadism, Gynecomastia, Hypogonadotrophic hypogonadism, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Increased female libido, Male hypogonadism, Micropenis, Non-obstructive azoospermia, Osteopenia, Osteoporosis, Primary amenorrhea, Reduced bone mineral density, Secondary amenorrhea, Sparse body hair, Wide intermamillary distance
oRG	INTS10	0.479003274	9.40E-06	Unclassified	BrainSpLMD|55174;Eurexp|euxassay_001760|mantle layer, marginal layer	OMIM|611353
oRG	JDP2	1.090627722	9.52E-06	Transcription factor	BrainSpLMD|122953;Eurexp|euxassay_016441|axial skeleton, dorsal root ganglion, facial VII, femur, glossopharyngeal IX, humerus, mandible, mantle layer, maxilla, neural retina, phalanx, scapula, trigeminal V, vagus X, ventral grey horn;BrainSpMouseDev|57385	OMIM|608657
oRG	MCCC2	0.802609965	9.59E-06	Enzyme: Carboxylase	BrainSpLMD|64087	OMIM|609014;HPO|64087|Abnormality of leucine metabolism, Abnormality of movement, Acute hyperammonemia, Alopecia, Autosomal recessive inheritance, Coma, Failure to thrive, Failure to thrive in infancy, Feeding difficulties, Generalized hypotonia, Global developmental delay, Heterogeneous, Hyperammonemia, Hyperglycinuria, Hyperreflexia, Hypoglycemia, Intellectual disability, Ketoacidosis, Lethargy, Metabolic acidosis, Muscular hypotonia, Opisthotonus, Organic aciduria, Phenotypic variability, Propionyl-CoA carboxylase deficiency, Seborrheic dermatitis, Seizures, Skeletal muscle atrophy, Vomiting
oRG	USP53	0.261577699	9.67E-06	Ubiquitin proteasome system protein	BrainSpLMD|54532;Eurexp|euxassay_014191|incisor, molar, olfactory, submandibular gland primordium	OMIM|617431
oRG	ZCCHC3	0.439331774	9.82E-06	Unclassified	BrainSpLMD|85364;Eurexp|euxassay_012888|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, humerus, mantle layer, orbito-sphenoid, pelvic girdle, rib, scapula, temporal bone, vault of skull, ventral grey horn	
oRG	PPAP2A	0.917371881	9.85E-06			
oRG	PRKRIP1	0.999442589	1.04E-05	RNA binding protein	BrainSpLMD|79706	OMIM|617458
oRG	FZD7	0.48213319	1.05E-05	G protein coupled receptor	BrainSpLMD|8324;BrainSpMouseDev|14145	OMIM|603410
oRG	HSPA4L	1.306012331	1.05E-05	Heat shock protein	BrainSpLMD|22824;Eurexp|euxassay_006441|cervico-thoracic, diencephalon, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, hindbrain, left, mantle layer, mesenchyme, midbrain, midgut, neural retina, olfactory, pituitary, posterior, right, skeletal muscle, spinal cord, thoracic, thymus primordium, trachea, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	
oRG	ERAL1	0.26310696	1.06E-05	GTPase	BrainSpLMD|26284	OMIM|607435
oRG	TMEM120A	0.865409032	1.06E-05	Integral membrane protein	BrainSpLMD|83862;Eurexp|euxassay_009162|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	OMIM|616550
oRG	FASN	0.906920751	1.06E-05	Enzyme: Synthase	BrainSpLMD|2194;Eurexp|euxassay_018666|cervical, cervico-thoracic, clavicle, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mandible, maxilla, midgut, molar, neural retina, orbito-sphenoid, otic capsule, pancreas, rib, submandibular gland primordium, testis, thoracic, thymus primordium, thyroid, trigeminal V, turbinate, vagus X, vestibulocochlear VIII, vibrissa	OMIM|600212
oRG	PPARA	0.872883448	1.08E-05	Nuclear receptor	BrainSpLMD|5465;BrainSpMouseDev|18776	OMIM|170998
oRG	TRIM45	0.444531115	1.09E-05	Transcription regulatory protein	BrainSpLMD|80263;Eurexp|euxassay_011322|axial skeleton, olfactory, vomeronasal organ	OMIM|609318
oRG	RILPL1	1.106913541	1.09E-05	Unclassified	Eurexp|euxassay_005137|4th ventricle, adenohypophysis, lens, marginal layer, medullary raphe, mesenchyme, metanephros, ventricular layer, vertebral axis muscle system	OMIM|614092
oRG	GAN	0.292783304	1.09E-05	Cytoskeletal associated protein	BrainSpLMD|8139	SFARI||Autism, No category;OMIM|605379;HPO|8139|Abnormal hand morphology, Abnormal pyramidal signs, Abnormality of the Achilles tendon, Abnormality of the cerebellum, Abnormality of the hand, Areflexia, Areflexia of lower limbs, Autosomal recessive inheritance, CNS hypomyelination, Curly hair, Decreased number of peripheral myelinated nerve fibers, Difficulty walking, Diffuse axonal swelling, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Facial palsy, Generalized hypotonia, Hyperreflexia, Hyporeflexia of lower limbs, Intellectual disability, Joint hypermobility, Juvenile onset, Morphological abnormality of the pyramidal tract, Motor axonal neuropathy, Nystagmus, Pes cavus, Pes planus, Phenotypic variability, Pili canaliculi, Proximal muscle weakness, Scoliosis, Sensory axonal neuropathy, Slow progression, Spastic paraplegia, Spasticity, Steppage gait, Talipes equinovarus, Unsteady gait, Woolly hair
oRG	ELP4	0.379360463	1.10E-05	Enzyme: Acyltransferase	BrainSpLMD|26610	SFARI||Autism, 3 - Suggestive evidence;OMIM|606985;HPO|26610|Aniridia, Autosomal dominant inheritance, Cataract, Glaucoma, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Nystagmus, Opacification of the corneal stroma, Optic nerve hypoplasia
oRG	DDB2	0.476335087	1.10E-05	DNA binding protein	BrainSpLMD|1643	OMIM|600811;COSMIC||skin basal cell, skin squamous cell, melanoma;HPO|1643|Abnormality of the dentition, Arthralgia, Autosomal recessive inheritance, Basal cell carcinoma, Cataract, Cognitive impairment, Conjunctival telangiectasia, Conjunctivitis, Cryptorchidism, Cutaneous photosensitivity, Defective DNA repair after ultraviolet radiation damage, Dermal atrophy, Developmental regression, Dry skin, EEG abnormality, Ectropion, Entropion, Erythema, Failure to thrive, Fatigue, Fever, Freckling, Hyperkeratosis, Hypermelanotic macule, Hypogonadism, Hypopigmented skin patches, Intellectual disability, progressive, Keratitis, Melanoma, Optic atrophy, Papilloma, Photophobia, Poikiloderma, Sensorineural hearing impairment, Squamous cell carcinoma of the skin, Strabismus, Telangiectasia, Telangiectasia of the skin, Thin skin
oRG	BICD1	0.268794202	1.11E-05	Transport/cargo protein	BrainSpLMD|636;Eurexp|euxassay_001764|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|11907	OMIM|602204
oRG	ST3GAL5	0.285533738	1.12E-05	Enzyme: Sialyltransferase	BrainSpLMD|8869	OMIM|604402;HPO|8869|Absent speech, Autosomal recessive inheritance, Choreoathetosis, Cortical visual impairment, Developmental regression, Developmental stagnation at onset of seizures, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Generalized tonic-clonic seizures, Global brain atrophy, Global developmental delay, Hypermelanotic macule, Hyporeflexia of upper limbs, Irritability, Lower limb hyperreflexia, Myoclonus, Optic atrophy, Status epilepticus, Visual loss, Vomiting
oRG	PHC3	0.52825528	1.15E-05	Unclassified	BrainSpLMD|80012	
oRG	SLC35A4	1.133149356	1.16E-05	Membrane transport protein	BrainSpLMD|113829;Eurexp|euxassay_004834|axial muscle, cranium, ventricular layer	
oRG	RRAGD	0.506808373	1.19E-05	G protein	BrainSpLMD|58528	OMIM|608268
oRG	BBS10	0.865466557	1.23E-05	Unclassified	BrainSpLMD|79738	OMIM|610148;HPO|79738|Abnormal electroretinogram, Autosomal recessive inheritance, Cognitive impairment, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Multicystic kidney dysplasia, Nystagmus, Obesity, Pigmentary retinopathy, Polydactyly, Postaxial hand polydactyly, Renal cyst, Renal insufficiency, Rod-cone dystrophy, Short stature
oRG	GNPDA1	0.883515745	1.26E-05	Enzyme: Deaminase	BrainSpLMD|10007	OMIM|601798
oRG	SMUG1	0.557206639	1.27E-05	Enzyme: Glycosylase	BrainSpLMD|23583	OMIM|607753
oRG	GEMIN8	0.666278199	1.28E-05	Unclassified	BrainSpLMD|54960;Eurexp|euxassay_003013|submandibular gland primordium	OMIM|300962
oRG	JKAMP	0.298385637	1.29E-05	Integral membrane protein	BrainSpLMD|51528;Eurexp|euxassay_009285|brain, spinal cord, trigeminal V	OMIM|611176
oRG	PEPD	0.567960501	1.33E-05	Protease	BrainSpLMD|5184;Eurexp|euxassay_005690|dorsal root ganglion, glossopharyngeal IX, liver, lung, metanephros, skeletal muscle, trigeminal V, vagus X, vertebral axis muscle system	OMIM|613230;HPO|5184|Abnormal facial shape, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the fingernails, Abnormality of the hip bone, Abnormality of the middle ear, Anemia, Arachnodactyly, Asthma, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Carious teeth, Chronic lung disease, Convex nasal ridge, Crusting erythematous dermatitis, Cutaneous photosensitivity, Depressed nasal bridge, Depressed nasal ridge, Diffuse telangiectasia, Dry skin, Erythema, Generalized hirsutism, Genu valgum, Global developmental delay, Hearing impairment, Hepatomegaly, Hypertelorism, Low anterior hairline, Low posterior hairline, Micrognathia, Palmoplantar keratoderma, Papule, Petechiae, Prolonged neonatal jaundice, Prominent forehead, Proptosis, Pruritus, Ptosis, Recurrent pneumonia, Recurrent respiratory infections, Short nose, Skin ulcer, Splenomegaly, Systemic lupus erythematosus, Thin skin, Thrombocytopenia, Visual impairment, White forelock
oRG	SEC23A	0.862573021	1.34E-05	Transport/cargo protein	BrainSpLMD|10484;Eurexp|euxassay_010377|clavicle, mandible, maxilla, orbito-sphenoid, rib, turbinate bones	OMIM|610511;HPO|10484|Anteverted nares, Autosomal recessive inheritance, Brittle hair, Capillary hemangiomas, Carious teeth, Coarse hair, Cryptorchidism, Decreased skull ossification, Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Forehead hyperpigmentation, Frontal bossing, High iliac wings, Hyperpigmentation of the skin, Hypertelorism, Hypoplasia of teeth, Hypoplasia of the maxilla, Joint laxity, Large fontanelles, Long philtrum, Macrocephaly, Malar flattening, Microdontia, Midface retrusion, Narrow chest, Narrow iliac wings, Pes planus, Posterior Y-sutural cataract, Posterior wedging of vertebral bodies, Premature loss of teeth, Prominent nasal bridge, Prominent supraorbital ridges, Punctate cataract, Scoliosis, Short stature, Skeletal dysplasia, Smooth philtrum, Sparse hair, Sutural cataract, Thin upper lip vermilion, Thin vermilion border, Wide anterior fontanel, Wide mouth, Wide nasal bridge, Wide nose
oRG	CDH10	0.576936257	1.36E-05	Adhesion molecule	BrainSpLMD|1008;Eurexp|euxassay_009792|mantle layer, nose, tegmentum;BrainSpMouseDev|107808	SFARI||Autism, 4 - Minimal evidence;OMIM|604555;COSMIC||melanoma, pancreatic ductal adenocarcinoma
oRG	GINS2	0.700740462	1.39E-05	Unclassified	BrainSpLMD|51659	OMIM|610609
oRG	NUP43	0.49212344	1.44E-05	Transport/cargo protein	BrainSpLMD|348995;Eurexp|euxassay_007275|bladder, cortex, incisor, left lung, liver, mesenchyme, midgut, molar, olfactory, pectoral girdle and thoracic body wall, right lung, thymus primordium	OMIM|608141
oRG	NUDT19	0.352694993	1.44E-05	Unclassified	Eurexp|euxassay_008589|hindgut, left, midgut, pancreas, right	
oRG	C4orf33	0.772323591	1.48E-05	Unclassified	BrainSpLMD|132321	
oRG	ZHX3	0.396365297	1.48E-05	Transcription regulatory protein	BrainSpLMD|23051;Eurexp|euxassay_019571|cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, midgut, thoracic, trigeminal V, vagus X, vibrissa;BrainSpMouseDev|107734	OMIM|609598
oRG	ALG8	0.876617872	1.50E-05	Enzyme: Glycosyltransferase	BrainSpLMD|79053	OMIM|608103;HPO|79053|Abnormality of the renal tubule, Cataract, Hepatic failure, Lymphedema
oRG	RAP1B	0.378500747	1.51E-05	GTPase	BrainSpLMD|5908	OMIM|179530;HPO|5908|Abnormal dermatoglyphics, Abnormality of the cardiac septa, Butterfly vertebrae, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Conductive hearing impairment, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Hemivertebrae, High palate, Highly arched eyebrow, Hydrocephalus, Hypodontia, Joint hyperflexibility, Long eyelashes, Macrotia, Microcephaly, Microdontia, Muscular hypotonia, Protruding ear, Ptosis, Recurrent infections, Scoliosis, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Sparse lateral eyebrow, Strabismus, Ventriculomegaly, Widely spaced teeth
oRG	CALCOCO2	0.859140853	1.52E-05	Unclassified	BrainSpLMD|10241	OMIM|604587
oRG	NDUFB1	0.34451731	1.52E-05	Enzyme: Oxidoreductase	BrainSpLMD|4707	OMIM|603837
oRG	RALGAPA1	0.496124018	1.52E-05	GTPase activating protein	BrainSpLMD|253959	OMIM|608884
oRG	THAP9	0.264064438	1.53E-05	DNA binding protein	BrainSpLMD|79725	OMIM|612537
oRG	ZNF24	0.272362051	1.58E-05	Transcription regulatory protein	BrainSpLMD|7572;BrainSpMouseDev|37620	OMIM|194534
oRG	KDM3A	0.867272088	1.60E-05	Unclassified	BrainSpLMD|55818	OMIM|611512
oRG	ANXA6	0.262466441	1.60E-05	Calcium binding protein	BrainSpLMD|309	OMIM|114070
oRG	PIGG	0.434421493	1.64E-05	Unclassified	BrainSpLMD|54872	OMIM|616918;HPO|54872|Ataxia, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral atrophy, Congenital onset, Delayed speech and language development, EEG with focal spikes, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Hyporeflexia, Intellectual disability, profound, Intrauterine growth retardation, Seizures, Severe muscular hypotonia
oRG	TRDMT1	0.928272086	1.64E-05	DNA methyltransferase	BrainSpLMD|1787;BrainSpMouseDev|13213	OMIM|602478
oRG	EFCAB14	0.995609125	1.64E-05	Unclassified		
oRG	NAP1L4	0.536158259	1.65E-05	Chaperone	BrainSpLMD|4676	OMIM|601651
oRG	GPATCH2	0.449377172	1.69E-05	RNA binding protein	BrainSpLMD|55105	OMIM|616836
oRG	MED29	0.294232533	1.69E-05	Transcription regulatory protein	BrainSpLMD|55588	OMIM|612914
oRG	RNF13	0.372249826	1.75E-05	Ubiquitin proteasome system protein	BrainSpLMD|11342;Eurexp|euxassay_010064|ventricular layer	OMIM|609247
oRG	C5orf30	0.342677327	1.76E-05	Unclassified	BrainSpLMD|90355	OMIM|616608
oRG	PCYT1A	0.624172019	1.80E-05	Enzyme: Nucleotidyltransferase	BrainSpLMD|5130;Eurexp|euxassay_003868|Meckel's cartilage	OMIM|123695;HPO|5130|Abnormal electroretinogram, Abnormality of color vision, Abnormality of macular pigmentation, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the ribs, Aplasia/Hypoplasia of the cerebellar vermis, Astigmatism, Autosomal recessive inheritance, Bowing of the long bones, Brachydactyly, Cataract, Cone/cone-rod dystrophy, Coxa vara, Cupped ribs, Decreased hip abduction, Dental malocclusion, Encephalocele, Femoral bowing, Hemiplegia/hemiparesis, High-grade hypermetropia, Hyperlordosis, Hypoplastic inferior ilia, Iris hypopigmentation, Joint stiffness, Keratoconus, Large central visual field defect, Metaphyseal cupping, Metaphyseal irregularity, Metaphyseal widening, Muscular hypotonia, Myopia, Narrow greater sacrosciatic notches, Nyctalopia, Nystagmus, Ovoid vertebral bodies, Peripheral visual field loss, Photophobia, Platyspondyly, Postnatal growth retardation, Progressive visual loss, Recurrent otitis media, Rhizomelia, Scoliosis, Seizures, Severe platyspondyly, Severe short stature, Severe visual impairment, Short finger, Short metacarpal, Spondylometaphyseal dysplasia, Tibial bowing, Visual loss
oRG	THYN1	0.29605485	1.81E-05	Unclassified	BrainSpLMD|29087	OMIM|613739
oRG	APOA1BP	0.846308166	1.84E-05			
oRG	PPP1CA	0.276809527	1.84E-05	Serine/threonine phosphatase	BrainSpLMD|5499	OMIM|176875
oRG	NEIL2	0.577484617	1.87E-05	DNA repair protein	BrainSpLMD|252969	OMIM|608933
oRG	FGFR3	1.096116185	1.89E-05	Receptor tyrosine kinase;Tyrosine kinase	BrainSpLMD|2261;Eurexp|euxassay_006120|embryo;BrainSpMouseDev|13961	OMIM|134934;COSMIC||bladder, MM, T-cell lymphoma, Hypochondroplasia, Thanatophoric dysplasia;HPO|2261|2-3 finger syndactyly, Abnormal form of the vertebral bodies, Abnormality of femur morphology, Abnormality of lower limb joint, Abnormality of metabolism/homeostasis, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the cervical spine, Abnormality of the clavicle, Abnormality of the elbow, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the ribs, Absence of Stensen duct, Absent lacrimal punctum, Absent proximal phalanx of thumb, Absent radius, Acanthosis nigricans, Alacrima, Anteverted nares, Aplasia of the parotid gland, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the mandible, Aplasia/hypoplasia of the extremities, Arachnodactyly, Arnold-Chiari malformation, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bilateral triphalangeal thumbs, Blepharospasm, Bowing of the long bones, Brachycephaly, Brachydactyly, Brain atrophy, Brain stem compression, Broad femoral metaphyses, Broad forehead, Broad hallux, Camptodactyly of finger, Camptodactyly of toe, Capitate-hamate fusion, Carious teeth, Carpal synostosis, Central apnea, Childhood onset short-limb short stature, Choanal atresia, Chronic otitis media, Clinodactyly, Clinodactyly of the 5th finger, Cloverleaf skull, Cognitive impairment, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Conical incisor, Convex nasal ridge, Corneal perforation, Coronal craniosynostosis, Coronal hypospadias, Craniosynostosis, Cryptorchidism, Cupped ear, Dacryocystitis, Decreased fetal movement, Delayed cranial suture closure, Delayed eruption of primary teeth, Dental crowding, Dental malocclusion, Depressed nasal bridge, Diaphyseal thickening, Downslanted palpebral fissures, Enlarged cerebellum, Excessive wrinkled skin, External ear malformation, Facial asymmetry, Femoral bowing, Fibular bowing, Finger syndactyly, Flared metaphysis, Flat face, Frontal bossing, Generalized joint laxity, Generalized seizures, Genu varum, Global developmental delay, Gonadal dysgenesis, Hearing impairment, Hereditary nonpolyposis colorectal carcinoma, Heterotopia, High forehead, High palate, High, narrow palate, Hydrocephalus, Hyperextensible skin, Hyperhidrosis, Hyperlordosis, Hypertelorism, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the corpus callosum, Hypoplasia of the lacrimal puncta, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic ilia, Hypoplastic lacrimal duct, Increased intracranial pressure, Increased nuchal translucency, Increased vertebral height, Infantile muscular hypotonia, Inflammatory abnormality of the eye, Intellectual disability, Intellectual disability, profound, Intellectual disability, severe, Intrauterine growth retardation, Joint contracture of the hand, Joint hyperflexibility, Kyphosis, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Lethal short-limbed short stature, Limited elbow extension, Limited hip extension, Long thorax, Low anterior hairline, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Macrocephaly, Malar flattening, Megalencephaly, Melanocytic nevus, Mesomelia, Metaphyseal chondrodysplasia, Metaphyseal irregularity, Microcephaly, Micromelia, Microtia, Midface retrusion, Mixed hearing impairment, Motor delay, Muscular hypotonia, Narrow chest, Narrow internal auditory canal, Narrow palate, Narrow sacroiliac notch, Nasolacrimal duct obstruction, Neonatal death, Neonatal short-limb short stature, Neoplasm, Neoplasm of the stomach, Nephrosclerosis, Numerous nevi, Obesity, Obstructive sleep apnea, Open bite, Osteochondroma, Otitis media, Partial duplication of thumb phalanx, Pectus excavatum, Periorbital fullness, Plagiocephaly, Platyspondyly, Polyhydramnios, Preaxial polydactyly, Prominent crus of helix, Prominent nasal bridge, Proptosis, Ptosis, Radial deviation of finger, Radial deviation of the 3rd finger, Recurrent corneal erosions, Recurrent otitis media, Redundant skin, Renal agenesis, Renal cell carcinoma, Respiratory insufficiency, Rhizomelia, Scoliosis, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe platyspondyly, Severe short stature, Short femoral neck, Short femur, Short foot, Short long bone, Short middle phalanx of finger, Short middle phalanx of toe, Short palm, Short ribs, Short sacroiliac notch, Short stature, Short thorax, Short toe, Skeletal dysplasia, Sleep apnea, Small abnormally formed scapulae, Small face, Small foramen magnum, Small thenar eminence, Somatic mutation, Spinal stenosis with reduced interpedicular distance, Split hand, Sporadic, Strabismus, Tall stature, Tarsal synostosis, Telecanthus, Teratoma, Thimble-shaped middle phalanges of hand, Tibial bowing, Transitional cell carcinoma of the bladder, Trident hand, Turricephaly, Underdeveloped supraorbital ridges, Upper airway obstruction, Uterine leiomyosarcoma, Ventriculomegaly, Visual field defect, Wide anterior fontanel, Wide-cupped costochondral junctions, Wormian bones, Xerostomia
oRG	AP2B1	0.300502665	1.90E-05	Unclassified;Transport/cargo protein	BrainSpLMD|163	OMIM|601025
oRG	CAPZA2	0.315124139	1.95E-05	Cytoskeletal protein	BrainSpLMD|830;Eurexp|euxassay_017154|basal plate, dorsal root ganglion, glossopharyngeal IX, submandibular gland primordium, thymus primordium, trigeminal V, ventral grey horn, vibrissa	OMIM|601571
oRG	FUBP3	0.468106017	1.96E-05	Transcription factor	BrainSpLMD|8939;Eurexp|euxassay_019536|dorsal root ganglion, incisor, lung, metanephros, molar, submandibular gland primordium, ventral grey horn, vibrissa	OMIM|603536
oRG	TWF1	0.728075564	2.00E-05	Tyrosine kinase	BrainSpLMD|5756;Eurexp|euxassay_018637|olfactory	OMIM|610932
oRG	BCKDHB	1.338133771	2.02E-05	Enzyme: Decarboxylase	BrainSpLMD|594;Eurexp|euxassay_006740|embryo	OMIM|248611;HPO|594|Ataxia, Autosomal recessive inheritance, Cerebral edema, Coma, Elevated plasma branched chain amino acids, Feeding difficulties in infancy, Generalized hypotonia, Growth abnormality, Hallucinations, Hypertonia, Hypoglycemia, Intellectual disability, Ketosis, Lactic acidosis, Lethargy, Pancreatitis, Seizures, Vomiting
oRG	FOXN2	0.29726174	2.03E-05	DNA binding protein	BrainSpLMD|3344;Eurexp|euxassay_019499|incisor, liver, lung, mandible, mantle layer, marginal layer, maxilla, molar, submandibular gland primordium, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|14013	OMIM|143089
oRG	SACM1L	0.71048983	2.06E-05	Lipid phosphatase	BrainSpLMD|22908	OMIM|606569
oRG	CYP20A1	0.252056666	2.07E-05	Enzyme: Oxygenase	BrainSpLMD|57404;Eurexp|euxassay_012299|mandible, mantle layer, maxilla, orbito-sphenoid	
oRG	ZNF460	0.348063298	2.08E-05	Transcription factor	BrainSpLMD|10794	OMIM|604755
oRG	C1orf123	0.687549851	2.11E-05	Unclassified		
oRG	WDR59	0.398208458	2.14E-05	Unclassified	BrainSpLMD|79726	OMIM|617418
oRG	TANK	0.844961478	2.15E-05	Adapter molecule	BrainSpLMD|10010;Eurexp|euxassay_010622|mandible, maxilla, submandibular gland primordium	OMIM|603893
oRG	CINP	0.6498249	2.15E-05	Unclassified	BrainSpLMD|51550;Eurexp|euxassay_005320|axial muscle, dorsal root ganglion, glossopharyngeal IX, incisor, mantle layer, submandibular gland primordium, trigeminal V	OMIM|613362
oRG	COA5	0.838013675	2.18E-05	Unclassified	BrainSpLMD|493753;Eurexp|euxassay_012758|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, ventricle, vestibulocochlear VIII	OMIM|613920;HPO|493753|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Congenital onset, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
oRG	SECISBP2L	0.289339314	2.23E-05	Unclassified	BrainSpLMD|9728	OMIM|615756
oRG	ZNF438	0.313702044	2.26E-05	DNA binding protein	BrainSpLMD|220929	
oRG	PDIA3P1	0.522899983	2.28E-05			
oRG	VCP	0.767177338	2.30E-05	ATPase	BrainSpLMD|7415	OMIM|601023;HPO|7415|Abnormal brain FDG positron emission tomography, Abnormal nerve conduction velocity, Abnormality of pelvic girdle bone morphology, Abnormality of the cerebral white matter, Absent Achilles reflex, Aggressive behavior, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apraxia, Arthralgia, Autosomal dominant inheritance, Babinski sign, Back pain, Collectionism, Depressivity, Difficulty climbing stairs, Disinhibition, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, Dyspnea, Dystonia, EEG with continuous slow activity, EMG: neuropathic changes, Echolalia, Elevated alkaline phosphatase, Elevated alkaline phosphatase of bone origin, Elevated serum creatine phosphokinase, Emotional blunting, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontal cortical atrophy, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait disturbance, Gait imbalance, Generalized muscle weakness, Grammar-specific speech disorder, Hammertoe, Hip pain, Hyperorality, Impaired vibration sensation in the lower limbs, Inappropriate behavior, Irritability, Lack of insight, Limb fasciculations, Limb muscle weakness, Loss of speech, Lower limb hyperreflexia, Lumbar hyperlordosis, Memory impairment, Muscle cramps, Muscle weakness, Myopathy, Neurodegeneration, Pain, Paralysis, Pelvic girdle amyotrophy, Pelvic girdle muscle atrophy, Pelvic girdle muscle weakness, Perseveration, Personality changes, Pes cavus, Poor speech, Progressive, Proximal muscle weakness, Respiratory failure, Restlessness, Restrictive behavior, Rimmed vacuoles, Scapular winging, Shoulder girdle muscle atrophy, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Spastic gait, Spastic paraplegia, Spasticity, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold, Tongue fasciculations, Variable expressivity, Xerostomia
oRG	DPH6	0.873465446	2.34E-05	Unclassified	BrainSpLMD|89978	
oRG	FHL1	0.469401917	2.35E-05	Unclassified	BrainSpLMD|2273;Eurexp|euxassay_018418|bladder, brain, diaphragm, dorsal root ganglion, head mesenchyme, limb, penis, rectum, spinal cord, tongue, vertebral axis muscle system	OMIM|300163;HPO|2273|Adult onset, Areflexia, Arrhythmia, Back pain, Elevated serum creatine phosphokinase, Flexion contracture, Foot dorsiflexor weakness, Frequent falls, Hyperlordosis, Hypertrophic cardiomyopathy, Hyporeflexia, Increased variability in muscle fiber diameter, Kyphosis, Lower limb muscle weakness, Myofibrillar myopathy, Progressive, Proximal muscle weakness, Rapidly progressive, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Rimmed vacuoles, Scapular winging, Scapuloperoneal myopathy, Scapuloperoneal weakness, Scoliosis, Short neck, Skeletal muscle atrophy, Spinal rigidity, Steppage gait, Waddling gait, X-linked dominant inheritance, X-linked inheritance, X-linked recessive inheritance
oRG	CHPT1	0.862074156	2.36E-05	Enzyme: Phosphotransferase	BrainSpLMD|56994;Eurexp|euxassay_012600|midgut	OMIM|616747
oRG	GSTM1	0.442541085	2.44E-05	Enzyme: Glutathione transferase	BrainSpLMD|2944	SFARI||Autism, 4 - Minimal evidence;OMIM|138350
oRG	BLOC1S5	0.963541922	2.45E-05	Transport/cargo protein		OMIM|607289
oRG	ZNF621	0.510705332	2.46E-05	Transcription regulatory protein	BrainSpLMD|285268	
oRG	TK2	0.264657017	2.50E-05	Enzyme: Phosphorylase	BrainSpLMD|7084	OMIM|188250;HPO|7084|Abnormality of the basal ganglia, Aminoaciduria, Autosomal recessive inheritance, Cerebral atrophy, Decreased activity of mitochondrial respiratory chain, Delayed gross motor development, Depletion of mitochondrial DNA in muscle tissue, Dysarthria, Dysphagia, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Facial diplegia, Facial palsy, Generalized amyotrophy, Generalized hypotonia, Gowers sign, Hearing impairment, Increased serum lactate, Infantile onset, Intellectual disability, progressive, Irritability, Lactic acidosis, Limb muscle weakness, Loss of ability to walk in early childhood, Mitochondrial myopathy, Progressive, Progressive external ophthalmoplegia, Proximal muscle weakness, Ptosis, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Scapular winging, Seizures, Skeletal muscle atrophy, Variable expressivity
oRG	RMDN3	0.351273891	2.58E-05	Cell cycle control protein	BrainSpLMD|55177	OMIM|611873
oRG	MRPS28	0.456663488	2.59E-05	Ribosomal subunit	BrainSpLMD|28957	OMIM|611990
oRG	C11orf83	0.689527773	2.61E-05			
oRG	KCNH7	0.521845366	2.62E-05	Voltage gated channel	BrainSpLMD|90134;BrainSpMouseDev|82041	OMIM|608169
oRG	ARNT2	0.304687897	2.63E-05	Transcription factor	BrainSpLMD|9915;Eurexp|euxassay_006289|brain, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, spinal cord, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|11651	SFARI||Autism, 4 - Minimal evidence;OMIM|606036;HPO|9915|Agenesis of corpus callosum, Anterior pituitary hypoplasia, Autosomal recessive inheritance, Cleft palate, Cryptorchidism, Deeply set eye, Delayed myelination, Diabetes insipidus, Gastroesophageal reflux, Global developmental delay, Growth hormone deficiency, Hemiplegia/hemiparesis, Hip dislocation, Hydronephrosis, Hypernatremia, Hypoplasia of penis, Hypoplasia of the corpus callosum, Microcephaly, Neurogenic bladder, Nystagmus, Pituitary hypothyroidism, Postnatal microcephaly, Prominent forehead, Retrognathia, Seizures, Septo-optic dysplasia, Short stature, Spasticity, Strabismus, Vesicoureteral reflux, Visual impairment
oRG	BMPR1A	0.372389264	2.73E-05	Receptor serine/threonine kinase	BrainSpLMD|657;BrainSpMouseDev|11952	OMIM|601299;COSMIC||gastrointestinal polyps;HPO|657|Abdominal pain, Adenomatous colonic polyposis, Anemia, Autosomal dominant inheritance, Colon cancer, Failure to thrive, Hyperplastic colonic polyposis, Hypoalbuminemia, Hypokalemia, Juvenile colonic polyposis, Multiple gastric polyps
oRG	EIF3J.AS1	0.477985795	2.76E-05			
oRG	PMVK	1.248884901	2.79E-05	Lipid Kinase	BrainSpLMD|10654	OMIM|607622;HPO|10654|Abnormality of chromosome stability, Aplasia/Hypoplasia of the skin, Autosomal dominant inheritance, Cutaneous photosensitivity, Hyperkeratosis, Middle age onset, Neoplasm of the skin, Porokeratosis, Pruritus
oRG	DDX1	0.335241805	2.79E-05	RNA binding protein	BrainSpLMD|1653	OMIM|601257
oRG	LRRCC1	0.669293466	2.84E-05	Unclassified	BrainSpLMD|85444;Eurexp|euxassay_007263|Meckel's cartilage, aortic valve, basisphenoid bone, exoccipital bone, mitral valve, orbito-sphenoid, skeletal muscle, temporal bone, tricuspid valve, turbinate bones, vault of skull	OMIM|617791
oRG	PRTFDC1	0.402231978	2.88E-05	Unclassified	BrainSpLMD|56952	OMIM|610751
oRG	IQCB1	0.339877134	2.97E-05	Unclassified	BrainSpLMD|9657;Eurexp|euxassay_012492|ventricle, ventricular layer	OMIM|609237;HPO|9657|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Aplasia/Hypoplasia of the cerebellar vermis, Autosomal recessive inheritance, Cataract, Encephalocele, Global developmental delay, Hemiplegia/hemiparesis, Heterogeneous, Hypertension, Keratoconus, Muscular hypotonia, Nephronophthisis, Nystagmus, Premature ovarian insufficiency, Progressive visual loss, Retinal dystrophy, Rod-cone dystrophy, Seizures, Severe visual impairment, Short stature, Stage 5 chronic kidney disease, Visual impairment
oRG	PNMA1	0.416622465	3.02E-05	Unclassified	BrainSpLMD|9240	OMIM|604010
oRG	CAPZB	0.40084458	3.11E-05	Cytoskeletal protein	BrainSpLMD|832;Eurexp|euxassay_011596|thymus primordium, thyroid	OMIM|601572
oRG	BCAR3	0.833535432	3.15E-05	Guanine nucleotide exchange factor	BrainSpLMD|8412;Eurexp|euxassay_006211|adenohypophysis, epithelium, mantle layer, marginal layer, submandibular gland primordium, ventricular layer	OMIM|604704
oRG	CNKSR3	0.683948965	3.18E-05	Unclassified	BrainSpLMD|154043	OMIM|617476
oRG	RP11.153M3.1	0.885079478	3.18E-05			
oRG	NDUFV1	0.536973249	3.23E-05	Enzyme: Oxidoreductase	BrainSpLMD|4723;Eurexp|euxassay_018916|dorsal root ganglion, liver, mantle layer, orbito-sphenoid, pancreas, submandibular gland primordium, testis, ventral grey horn, vibrissa	OMIM|161015;HPO|4723|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
oRG	EFCAB2	0.554129756	3.23E-05	Calcium binding protein	BrainSpLMD|84288;Eurexp|euxassay_004433|choroid invagination, mantle layer, meninges	
oRG	C3orf58	0.350927009	3.24E-05	Unclassified	BrainSpLMD|205428	SFARI||Autism, 4 - Minimal evidence;OMIM|612200
oRG	DYRK4	0.648868357	3.30E-05	Serine/threonine kinase	BrainSpLMD|8798	OMIM|609181
oRG	TUFM	0.404842472	3.31E-05	Translation regulatory protein	BrainSpLMD|7284	OMIM|602389;HPO|7284|Autosomal recessive inheritance, Death in infancy, Developmental regression, Encephalopathy, Hepatomegaly, Hyperammonemia, Increased serum lactate, Infantile onset, Intrauterine growth retardation, Lactic acidosis, Metabolic acidosis, Microcephaly, Neonatal hypotonia, Nystagmus, Opisthotonus, Polymicrogyria, Respiratory failure
oRG	DTWD1	0.771568788	3.31E-05	Unclassified	BrainSpLMD|56986	
oRG	RPL23AP7	0.602007385	3.36E-05			
oRG	NPC1	0.607552074	3.41E-05	Cell surface receptor	BrainSpLMD|4864	OMIM|607623;HPO|4864|Abnormal cholesterol homeostasis, Ataxia, Autosomal recessive inheritance, Bone-marrow foam cells, Cataplexy, Dementia, Dysarthria, Dysphagia, Dystonia, Fatal liver failure in infancy, Fetal ascites, Foam cells in visceral organs and CNS, Generalized hypotonia, Global developmental delay, Hepatomegaly, Heterogeneous, Intellectual disability, Loss of speech, Low cholesterol esterification rates, Neurofibrillary tangles, Neuronal loss in central nervous system, Onset, Phenotypic variability, Prolonged neonatal jaundice, Psychosis, Sea-blue histiocytosis, Seizures, Spasticity, Splenomegaly, Vertical supranuclear gaze palsy
oRG	C15orf41	0.724190206	3.45E-05	Unclassified	BrainSpLMD|84529;Eurexp|euxassay_005181|adenohypophysis, brain, metanephros, neural retina, retina, spinal cord, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|615626;HPO|84529|Anemia of inadequate production, Anisocytosis, Autosomal recessive inheritance, Erythroid hyperplasia, Hepatomegaly, Jaundice, Pallor, Poikilocytosis, Reticulocytosis, Splenomegaly
oRG	CUTA	0.329502745	3.47E-05	Unclassified	BrainSpLMD|51596	OMIM|616953
oRG	EPHB2	0.595054854	3.51E-05	Receptor tyrosine kinase	BrainSpLMD|2048;Eurexp|euxassay_018956|mandible, marginal layer, mesenchyme, rib, ventricular layer;BrainSpMouseDev|13622	SFARI||Autism, No category;OMIM|600997
oRG	MRPS18A	0.488883777	3.52E-05	Ribosomal subunit	BrainSpLMD|55168	OMIM|611981
oRG	PNPLA8	0.626021273	3.53E-05	Enzyme: Phospholipase	BrainSpLMD|50640	OMIM|612123;HPO|50640|Autosomal recessive inheritance, Dysarthria, Dysmetria, Dystonia, Episodic vomiting, Focal seizures with impairment of consciousness or awareness, Generalized hypotonia, Gowers sign, Hemiparesis, Hyperalaninemia, Increased serum lactate, Increased serum pyruvate, Infantile onset, Lactic acidosis, Mitochondrial myopathy, Moderate sensorineural hearing impairment, Postnatal growth retardation, Progressive, Spasticity, Toe walking
oRG	SNX27	0.271340017	3.53E-05	Transport/cargo protein	BrainSpLMD|81609	OMIM|611541
oRG	ASTN1	0.768628755	3.54E-05	Adhesion molecule	BrainSpLMD|460;BrainSpMouseDev|11686	OMIM|600904
oRG	ADAM10	0.608214654	3.54E-05	Metallo protease	BrainSpLMD|102;Eurexp|euxassay_007598|anterior, dorsal root ganglion, epithelium, external, facial VII, glossopharyngeal IX, inner ear, lens, liver, naso-lacrimal duct, neural retina, olfactory, pectoral girdle and thoracic body wall, trigeminal V, vagus X;BrainSpMouseDev|11275	OMIM|602192;HPO|102|Autosomal dominant inheritance
oRG	HSPD1P1	0.373053224	3.58E-05			
oRG	SSX2IP	0.383528422	3.70E-05	Adhesion molecule	BrainSpLMD|117178	OMIM|608690
oRG	LRRN3	0.824452749	3.79E-05	Integral membrane protein	BrainSpLMD|54674;Eurexp|euxassay_015911|cervical, cervico-thoracic, ear, facial VII, glossopharyngeal IX, lip, mantle layer, marginal layer, medulla, neural retina, olfactory, pituitary, stomach, thoracic, trachea, trigeminal V, ventral grey horn, vestibular component, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16751	
oRG	ANO5	0.709088863	3.79E-05	Integral membrane protein	BrainSpLMD|203859	OMIM|608662;HPO|203859|Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Bowing of the long bones, Broad jaw, Calf muscle hypertrophy, Diaphyseal cortical sclerosis, Difficulty climbing stairs, Difficulty running, Distal muscle weakness, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Facial palsy, Increased susceptibility to fractures, Mandibular osteomyelitis, Muscular dystrophy, Myalgia, Osteopenia, Pelvic girdle muscle weakness, Progressive, Proximal muscle weakness, Quadriceps muscle atrophy, Shoulder girdle muscle weakness, Thickened cortex of long bones, Variable expressivity
oRG	MEGF8	0.314131105	3.83E-05	Adhesion molecule	BrainSpLMD|1954	OMIM|604267;HPO|1954|Abnormality of the cornea, Anteverted nares, Aplasia of the middle phalanx of the hand, Autosomal recessive inheritance, Brachydactyly, Broad thumb, Camptodactyly, Cloverleaf skull, Craniosynostosis, Cryptorchidism, Cutaneous finger syndactyly, Cutis laxa, Depressed nasal bridge, Epicanthus, External genital hypoplasia, Finger syndactyly, Genu valgum, Global developmental delay, High palate, Highly arched eyebrow, Hypertelorism, Hypoplastic nipples, Intellectual disability, Low-set ears, Midface retrusion, Narrow palate, Obesity, Oxycephaly, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Postaxial hand polydactyly, Preaxial foot polydactyly, Preaxial polydactyly, Short neck, Sparse and thin eyebrow, Supernumerary nipple, Talipes equinovarus, Toe syndactyly, Upslanted palpebral fissure, Wide intermamillary distance, Wide nasal bridge
oRG	CNTLN	0.410740389	3.88E-05	Unclassified	BrainSpLMD|54875	OMIM|611870
oRG	ADAM23	0.273039579	3.90E-05	Metallo protease	BrainSpLMD|8745;Eurexp|euxassay_007602|dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, maxillary division, neural retina, skeletal muscle, sublingual gland primordium, submandibular gland primordium, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|603710
oRG	WDFY2	0.639207624	3.95E-05	Unclassified	BrainSpLMD|115825	OMIM|610418
oRG	PSMB2	0.322296416	4.03E-05	Ubiquitin proteasome system protein	BrainSpLMD|5690;Eurexp|euxassay_004563|nucleus pulposus	OMIM|602175
oRG	TMEM65	0.932820816	4.07E-05	Integral membrane protein	BrainSpLMD|157378	OMIM|616609
oRG	MRPS14	0.747435186	4.20E-05	Ribosomal subunit	BrainSpLMD|63931	OMIM|611978
oRG	AGPAT3	1.12098587	4.24E-05	Enzyme: Acyltransferase	BrainSpLMD|56894	OMIM|614794
oRG	RAB11FIP2	0.374395791	4.25E-05	Adapter molecule	BrainSpLMD|22841;Eurexp|euxassay_014448|ductus deferens, ventricular layer	OMIM|608599
oRG	TIMM10B	0.698813301	4.36E-05	Membrane transport protein	BrainSpLMD|26515	OMIM|607388
oRG	SLC35D1	0.427095369	4.55E-05	Membrane transport protein	BrainSpLMD|23169	OMIM|610804;HPO|23169|Abnormality of the fingernails, Advanced ossification of carpal bones, Advanced tarsal ossification, Anterior rib cupping, Autosomal recessive inheritance, Brachydactyly, Cleft palate, Cryptorchidism, Disproportionate short-limb short stature, Dolichocephaly, Dumbbell-shaped long bone, Fibular hypoplasia, Flat acetabular roof, Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic toenails, Hypoplastic vertebral bodies, Increased fibular diameter, Lateral clavicle hook, Lymphedema, Macrocephaly, Malar flattening, Metaphyseal irregularity, Micromelia, Midface retrusion, Narrow chest, Ovoid vertebral bodies, Polyhydramnios, Short neck, Short ribs, Snail-like ilia, Stillbirth
oRG	ZNF346	0.639265273	4.58E-05	RNA binding protein	BrainSpLMD|23567;Eurexp|euxassay_005003|mesenchyme, vertebral axis muscle system	OMIM|605308
oRG	UNC50	0.601999071	4.60E-05	RNA binding protein	BrainSpLMD|25972	
oRG	RAB18	0.376812364	4.64E-05	GTPase	BrainSpLMD|22931	OMIM|602207;HPO|22931|Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Ankle clonus, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Blepharophimosis, Brachycephaly, Cataract, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Clitoral hypoplasia, Congenital cataract, Cortical visual impairment, Cryptorchidism, Decreased testicular size, Delayed puberty, Downturned corners of mouth, Flexion contracture, Generalized hirsutism, Global developmental delay, High palate, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplastic labia minora, Intellectual disability, profound, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphoscoliosis, Kyphosis, Lissencephaly, Low anterior hairline, Low-set, posteriorly rotated ears, Macrotia, Microcephaly, Microcornea, Micrognathia, Micropenis, Microphthalmia, Muscular hypotonia, Muscular hypotonia of the trunk, Narrow palate, Nystagmus, Optic atrophy, Pachygyria, Polymicrogyria, Postnatal growth retardation, Postnatal microcephaly, Scoliosis, Scrotal hypoplasia, Seizures, Shallow anterior chamber, Short nose, Short philtrum, Short stature, Spastic tetraplegia, Spasticity, Ventriculomegaly, Wide nasal bridge
oRG	GCSH	1.064238124	4.67E-05	Enzyme: Transferase	Eurexp|euxassay_005077|axial muscle, calyces, mantle layer, olfactory, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|238330;HPO|2653|Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Death in infancy, Encephalopathy, Generalized hypotonia, Hyperactivity, Hyperglycinemia, Hyperglycinuria, Hyperreflexia, Impulsivity, Intellectual disability, Irritability, Lethargy, Myoclonus, Recurrent singultus, Restlessness, Seizures
oRG	YIPF6	0.609768573	4.70E-05	Unclassified	BrainSpLMD|286451	OMIM|300996
oRG	CTD.2636A23.2	0.972234478	4.71E-05			
oRG	STARD4	0.791852948	4.84E-05	Unclassified	BrainSpLMD|134429;Eurexp|euxassay_008767|hindgut, midgut, rectum	OMIM|607049
oRG	SEC16A	0.377295342	4.88E-05	Unclassified		OMIM|612854
oRG	BNIP3	0.509837689	4.89E-05	Unclassified	BrainSpLMD|664;Eurexp|euxassay_004164|axial skeleton, clavicle, epithelium, mesenchyme, midgut, olfactory, stomach, ventricle	OMIM|603293
oRG	BROX	0.341081919	4.96E-05	Unclassified		
oRG	BARD1	0.295776264	5.15E-05	Transcription regulatory protein	BrainSpLMD|580	OMIM|601593;COSMIC||breast cancer, ovarian cancer, breast cancer, endometrioid cancer;HPO|580|Abnormality of the fallopian tube, Breast carcinoma, Ovarian neoplasm, Primary peritoneal carcinoma
oRG	ZNF275	0.71955275	5.27E-05	Transcription regulatory protein		
oRG	ASCC1	0.624074487	5.41E-05	Transcription regulatory protein	BrainSpLMD|51008;Eurexp|euxassay_002995|bladder, hindgut, midgut, nasal capsule, oesophagus, olfactory, thymus primordium	OMIM|614215;HPO|51008|Autosomal recessive inheritance, Axonal loss, Barrett esophagus, Congenital onset, Esophageal carcinoma, Generalized hypotonia, Increased variability in muscle fiber diameter, Peripheral axonal neuropathy, Respiratory failure, Somatic mutation, Spinal muscular atrophy
oRG	TFCP2	0.699028515	5.69E-05	Transcription factor	BrainSpLMD|7024;BrainSpMouseDev|21183	OMIM|189889
oRG	SRPRB	0.257384617	5.79E-05	GTPase	BrainSpLMD|58477;Eurexp|euxassay_010365|basioccipital bone, clavicle, femur, humerus, mandible, maxilla, naris, orbito-sphenoid, rib, sternum, tibia, turbinate bones	OMIM|616883
oRG	SF3A1	0.811770372	5.82E-05	RNA binding protein	BrainSpLMD|10291	OMIM|605595
oRG	JUNB	0.726091452	5.86E-05	Transcription factor	BrainSpLMD|3726	OMIM|165161
oRG	C6orf211	0.902778342	5.90E-05			
oRG	UBL5	0.253986744	5.93E-05	Ubiquitin proteasome system protein	BrainSpLMD|59286	OMIM|606849
oRG	HIPK2	0.455318461	5.95E-05	Serine/threonine kinase	BrainSpLMD|28996	OMIM|606868
oRG	PSRC1	0.776919358	6.06E-05	Unclassified	BrainSpLMD|84722;Eurexp|euxassay_003651|left lung, marginal layer, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|613126
oRG	MGA	0.415309726	6.28E-05	Transcription regulatory protein	BrainSpMouseDev|29543	OMIM|616061
oRG	SORD	0.905009879	6.32E-05	Enzyme: Dehydrogenase	BrainSpLMD|6652	OMIM|182500
oRG	LRPAP1	0.884305204	6.43E-05	Chaperone	BrainSpLMD|4043;Eurexp|euxassay_013971|calyces, choroid invagination, choroid plexus, floor plate, floorplate, mantle layer, marginal layer, olfactory, roof plate, stomach	OMIM|104225;HPO|4043|Autosomal recessive inheritance, Increased axial globe length, Reduced visual acuity, Severe Myopia, Visual impairment
oRG	HIST2H2BE	0.259035114	6.49E-05	DNA binding protein	BrainSpLMD|8349	OMIM|601831
oRG	SDHAP3	0.563843682	6.50E-05			
oRG	AHCYL2	0.825492427	6.76E-05	Enzyme: Lyase;Unclassified	BrainSpLMD|23382;Eurexp|euxassay_009089|adrenal gland, choroid plexus, facial VII, glossopharyngeal IX, hindgut, incisor, mantle layer, midgut, molar, naris, olfactory, rectum, stomach, trigeminal V, vagus X	OMIM|616520
oRG	KDM6A	0.639564717	6.80E-05	Unclassified	BrainSpLMD|7403	SFARI||Autism, 2 - Strong candidate;OMIM|300128;COSMIC||renal cell carcinoma, bladder carcinoma, oesophageal SCC, MM, medulloblastoma, T-ALL, other tumour types, Kabuki syndrome;HPO|7403|Abnormal dermatoglyphics, Abnormal vertebral morphology, Abnormality of the breast, Abnormality of the cardiac septa, Abnormality of the dentition, Anal atresia, Anal stenosis, Anoperineal fistula, Atrial septal defect, Autoimmune thrombocytopenia, Autosomal dominant inheritance, Behavioral abnormality, Blue sclerae, Broad nasal tip, Butterfly vertebrae, Cafe-au-lait spot, Central hypotonia, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Conductive hearing impairment, Congenital hip dislocation, Congenital hypothyroidism, Crossed fused renal ectopia, Cryptorchidism, Decreased body weight, Dental malocclusion, Depressed nasal tip, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Generalized hypotonia, Generalized joint laxity, Global developmental delay, Hearing impairment, Hemivertebrae, Hemolytic anemia, High palate, Highly arched eyebrow, Hirsutism, Hydrocephalus, Hypodontia, Intellectual disability, Intestinal malrotation, Joint hyperflexibility, Joint hypermobility, Long eyelashes, Long palpebral fissure, Macrotia, Malabsorption, Microcephaly, Microdontia, Micropenis, Muscular hypotonia, Neonatal hypoglycemia, Posteriorly rotated ears, Postnatal growth retardation, Preauricular pit, Premature thelarche, Prominent eyelashes, Prominent fingertip pads, Protruding ear, Ptosis, Recurrent aspiration pneumonia, Recurrent infections, Recurrent otitis media, Scoliosis, Seizures, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Sparse and thin eyebrow, Sparse lateral eyebrow, Strabismus, Ureteropelvic junction obstruction, Ventricular septal defect, Ventriculomegaly, Wide nasal bridge, Widely spaced teeth, X-linked dominant inheritance
oRG	CREM	0.406779114	6.84E-05	Transcription factor	BrainSpLMD|1390	OMIM|123812
oRG	STAG2	0.353045094	7.04E-05	Cell cycle control protein	BrainSpLMD|10735;Eurexp|euxassay_016892|ventricular layer	OMIM|300826;COSMIC||bladder carcinoma, glioblastoma, melanoma, Ewing's sarcoma, myeloid neoplasms
oRG	SUGT1	0.300794071	7.28E-05	Cell cycle control protein;Ubiquitin proteasome system protein	BrainSpLMD|10910	OMIM|604098
oRG	TIPARP	1.018950093	7.32E-05	DNA binding protein	BrainSpLMD|25976	OMIM|612480
oRG	SMARCA1	0.255787688	7.38E-05	Transcription regulatory protein	BrainSpLMD|6594;Eurexp|euxassay_015278|floorplate, hindgut, midgut, stomach	OMIM|300012
oRG	PSMD6	0.353104138	7.50E-05	Ubiquitin proteasome system protein	BrainSpLMD|9861	
oRG	COMMD4	0.630802911	7.66E-05	Unclassified	BrainSpLMD|54939	OMIM|616701
oRG	BTAF1	0.586468266	7.68E-05	Transcription regulatory protein	BrainSpLMD|9044	SFARI||Autism, 6 - Evidence does not support role;OMIM|605191
oRG	TFRC	0.404999779	7.78E-05	Membrane transport protein	BrainSpLMD|7037;Eurexp|euxassay_005557|left, left lung, meninges, midgut, right, right lung, stomach, submandibular gland primordium	OMIM|190010;COSMIC||NHL;HPO|7037|Autosomal recessive inheritance, Decreased antibody level in blood, Neutropenia
oRG	RPA2	0.825803744	7.96E-05	DNA binding protein	BrainSpLMD|6118;Eurexp|euxassay_004500|marginal layer, ventricular layer	OMIM|179836
oRG	DPYSL5	0.325283145	8.01E-05	Unclassified	BrainSpLMD|56896;BrainSpMouseDev|41755	OMIM|608383
oRG	CDHR3	0.698542814	8.06E-05	Unclassified	BrainSpLMD|222256	OMIM|615610
oRG	NDN	0.74630251	8.23E-05	DNA binding protein	BrainSpLMD|4692;Eurexp|euxassay_018587|clavicle, epithelium, floor plate, floorplate, lens, mandible, oesophagus, orbito-sphenoid	OMIM|602117;HPO|4692|Abdominal obesity, Almond-shaped palpebral fissure, Attention deficit hyperactivity disorder, Clinodactyly, Clitoral hypoplasia, Cutaneous photosensitivity, Decreased fetal movement, Decreased muscle mass, Delayed puberty, Delayed speech and language development, Dolichocephaly, Downturned corners of mouth, Failure to thrive in infancy, Generalized hypopigmentation, Generalized hypotonia, Global developmental delay, Growth hormone deficiency, Hyperinsulinemia, Hypermetropia, Hypogonadotrophic hypogonadism, Hypoplastic labia minora, Hypoventilation, Impaired pain sensation, Infertility, Kyphosis, Micropenis, Motor delay, Narrow forehead, Narrow nasal bridge, Narrow palm, Nasal speech, Obesity, Oligomenorrhea, Polyphagia, Poor gross motor coordination, Poor suck, Recurrent respiratory infections, Scoliosis, Short foot, Short palm, Short stature, Sleep apnea, Small hand, Specific learning disability, Sporadic, Thin upper lip vermilion, Ventriculomegaly
oRG	MPV17	0.431050813	8.24E-05	Integral membrane protein	BrainSpLMD|4358	OMIM|137960;HPO|4358|Abnormality of the foot, Abnormality of the immune system, Acral ulceration and osteomyelitis leading to autoamputation of digits, Acute hepatic failure, Areflexia, Ataxia, Autosomal recessive inheritance, Cirrhosis, Decreased number of peripheral myelinated nerve fibers, Diarrhea, Distal muscle weakness, Dystonia, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hypoglycemia, Hyporeflexia, Increased susceptibility to fractures, Infantile onset, Lactic acidosis, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Nystagmus, Osteomyelitis leading to amputation due to slow healing fractures, Pain insensitivity, Painless fractures due to injury, Phenotypic variability, Progressive, Prolonged neonatal jaundice, Recurrent corneal erosions, Reye syndrome-like episodes, Sensorimotor neuropathy, Short stature, Vomiting
oRG	MTCH1	1.00284308	8.35E-05	Unclassified	BrainSpLMD|23787;Eurexp|euxassay_007787|choroid invagination, choroid plexus, marginal layer, roof plate, thyroid	OMIM|610449
oRG	CHKA	0.669790476	8.69E-05	Lipid Kinase	BrainSpLMD|1119	OMIM|118491
oRG	HDDC2	1.024971742	8.73E-05	Unclassified	BrainSpLMD|51020	
oRG	WASF3	0.289428701	8.89E-05	Cytoskeletal associated protein	BrainSpLMD|10810;Eurexp|euxassay_003179|adrenal gland, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, spinal cord, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|605068
oRG	PSMC1P1	0.422221179	8.95E-05			
oRG	SHISA5	0.493834647	9.19E-05	Integral membrane protein	BrainSpLMD|51246	OMIM|607290
oRG	2-Mar	0.468215251	9.23E-05			
oRG	RMDN1	0.261394276	9.48E-05	Unclassified	BrainSpLMD|51115	OMIM|611871
oRG	ADH5P4	0.662626553	9.54E-05			
oRG	MB21D2	1.089131916	9.60E-05	Unclassified	BrainSpLMD|151963	COSMIC||lung cancer
oRG	WWTR1	0.800356328	9.62E-05	Transcription regulatory protein	BrainSpLMD|25937;Eurexp|euxassay_000592|limb, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|61234	OMIM|607392;COSMIC||epithelioid haemangioendothelioma
oRG	IQSEC1	0.860460507	9.74E-05	Guanine nucleotide exchange factor	BrainSpLMD|9922;Eurexp|euxassay_014196|mantle layer, naris, orbito-sphenoid, otic capsule, turbinate bones, ventricular layer, vestibulocochlear VIII	OMIM|610166
oRG	TXN2	0.407154076	9.79E-05	Enzyme: Oxidoreductase	BrainSpLMD|25828	OMIM|609063;HPO|25828|Autosomal recessive inheritance, Axonal degeneration, Cerebellar atrophy, Congenital onset, Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex III, Delayed CNS myelination, Dystonia, Feeding difficulties, Generalized hypotonia, Global brain atrophy, Global developmental delay, Increased CSF lactate, Increased CSF protein, Increased serum lactate, Infantile onset, Microcephaly, Optic atrophy, Optic neuropathy, Peripheral neuropathy, Progressive, Retinopathy, Seizures, Spasticity, Subependymal cysts
oRG	UBE2E1	0.378814994	0.000100345	Ubiquitin proteasome system protein	BrainSpLMD|7324;Eurexp|euxassay_003420|bladder, cervical, cervico-thoracic, clavicle, cortex, cranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, left lung, molar, naris, olfactory, orbito-sphenoid, pharyngo-tympanic tube, respiratory, right lung, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|602916
oRG	EIF4G1	0.533016189	0.000100369	Translation regulatory protein	BrainSpLMD|1981	OMIM|600495
oRG	MED14	0.398160334	0.000101277	Transcription regulatory protein	BrainSpLMD|9282;Eurexp|euxassay_019541|clavicle, incisor, lung, molar, oesophagus, olfactory, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, valve, vertebral axis muscle system, vibrissa	OMIM|300182
oRG	INHBB	0.744052553	0.000102256	Ligand	BrainSpLMD|3625;BrainSpMouseDev|16097	OMIM|147390
oRG	RP4.717I23.3	0.979135547	0.000103507			
oRG	NADSYN1	0.608952586	0.000103839	Enzyme: Ligase;Enzyme: Synthase	BrainSpLMD|55191	OMIM|608285
oRG	CLIC1	0.721094721	0.00010423	Intracellular ligand gated channel	BrainSpLMD|1192	OMIM|602872
oRG	CLVS2	0.340268335	0.00011075	Transport/cargo protein		OMIM|616945
oRG	ARHGEF9	1.015689964	0.000111385	Guanine nucleotide exchange factor		SFARI||Autism, 4 - Minimal evidence;OMIM|300429;HPO|23229|Congenital onset, Epileptic encephalopathy, Exaggerated startle response, Hypertonia, Intellectual disability, progressive, Intellectual disability, severe, Seizures, X-linked recessive inheritance
oRG	CNIH1	0.607212479	0.000111793	Integral membrane protein	BrainSpLMD|10175	OMIM|611287
oRG	PDE6D	0.74149644	0.000112354	Regulatory/other subunit	BrainSpLMD|5147	OMIM|602676;HPO|5147|Abnormal facial shape, Autosomal recessive inheritance, Coloboma, Global developmental delay, Intrauterine growth retardation, Microphthalmia, Molar tooth sign on MRI, Postaxial hand polydactyly, Renal hypoplasia, Retinal dysplasia, Syndactyly, Undetectable electroretinogram
oRG	SEPP1	0.841237221	0.000112461			
oRG	NBR1	0.304487237	0.000113269	Unclassified	BrainSpLMD|4077	OMIM|166945
oRG	WWC2	0.590080223	0.000113656	Unclassified	BrainSpLMD|80014	
oRG	DEGS1	0.289867306	0.000114606	Enzyme: Oxidoreductase	BrainSpLMD|8560;Eurexp|euxassay_002879|dorsal root ganglion, pancreas, ventral grey horn	OMIM|615843
oRG	SMAP1	0.315053924	0.000115198	Integral membrane protein	BrainSpLMD|60682	OMIM|611372
oRG	APPBP2	0.315232801	0.000116886	Adapter molecule	BrainSpLMD|10513	OMIM|605324
oRG	CYB5B	0.25432469	0.000117263	Transport/cargo protein	BrainSpLMD|80777;Eurexp|euxassay_010042|adrenal gland, axial muscle, cortex, lung, mandible, maxilla, midgut, neural retina, orbito-sphenoid, pancreas, wall	OMIM|611964
oRG	STAMBP	0.676791458	0.000117901	Adapter molecule	BrainSpLMD|10617	OMIM|606247;HPO|10617|Abnormal hair whorl, Autosomal recessive inheritance, Brachydactyly, Cerebral atrophy, Cleft palate, Clinodactyly, Congenital onset, Delayed myelination, Failure to thrive, Generalized hypotonia, Hearing impairment, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Low-set ears, Myoclonus, Optic atrophy, Patent foramen ovale, Progressive microcephaly, Ptosis, Right ventricular hypertrophy, Seizures, Severe global developmental delay, Short distal phalanx of finger, Short nose, Sloping forehead, Small for gestational age, Small nail, Spastic tetraparesis, Ventricular septal defect, Wide nose
oRG	IDH3A	0.530390648	0.000119147	Enzyme: Dehydrogenase	BrainSpLMD|3419;Eurexp|euxassay_010648|glossopharyngeal IX, lobe, mandible, midgut, orbito-sphenoid, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, ventral grey horn, ventricle, vibrissa	OMIM|601149
oRG	VPS45	0.378864948	0.000125585	Transport/cargo protein	BrainSpLMD|11311	OMIM|610035;HPO|11311|Anemia, Autosomal recessive inheritance, Extramedullary hematopoiesis, Failure to thrive, Hepatomegaly, Increased antibody level in blood, Infantile onset, Leukopenia, Neutropenia, Splenomegaly, Thrombocytopenia
oRG	FIGN	0.527729777	0.0001256	ATPase	BrainSpLMD|55137;Eurexp|euxassay_013646|dorsal grey horn, mantle layer, marginal layer, ventral grey horn	OMIM|605295
oRG	GSTCD	0.894400076	0.000127975	Unclassified	BrainSpLMD|79807	OMIM|615912
oRG	USP8	0.273903768	0.000128601	Ubiquitin proteasome system protein	BrainSpLMD|9101	OMIM|603158;COSMIC||corticotroph adenoma;HPO|9101|Abdominal obesity, Abnormal fear/anxiety-related behavior, Acne, Adrenal hyperplasia, Alkalosis, Anxiety, Biconcave vertebral bodies, Bruising susceptibility, Depressivity, Diabetes mellitus, Edema, Facial erythema, Failure to thrive, Fatigue, Generalized hirsutism, Glucose intolerance, Hirsutism, Hypertension, Hypokalemia, Immunodeficiency, Increased circulating ACTH level, Infertility, Kyphosis, Lipodystrophy, Menorrhagia, Metrorrhagia, Mood changes, Nephrolithiasis, Oligomenorrhea, Osteoporosis, Pituitary adenoma, Poor wound healing, Psychotic mentation, Purpura, Recurrent fractures, Round face, Skeletal muscle atrophy, Striae distensae, Thin skin, Truncal obesity, Vertebral compression fractures
oRG	PSENEN	0.257480063	0.000128679	Integral membrane protein	BrainSpMouseDev|42183	OMIM|607632;HPO|55851|Acne inversa, Autosomal dominant inheritance, Chronic furunculosis, Perifolliculitis, Recurrent cutaneous abscess formation
oRG	KDM3B	0.735157556	0.000130784	Unclassified	BrainSpLMD|51780	OMIM|609373
oRG	TIMM8B	0.254444637	0.000131017	Membrane transport protein	BrainSpLMD|26521;Eurexp|euxassay_005088|axial muscle, cortex, glossopharyngeal IX, incisor, mantle layer, marginal layer, molar, olfactory, respiratory, submandibular gland primordium, testis, thymus primordium, trigeminal V, vagus X, ventricular layer	OMIM|606659
oRG	GOLGA7	0.251994747	0.000131549	Integral membrane protein	BrainSpLMD|51125	OMIM|609453
oRG	UBB	0.291890955	0.000134661	Ubiquitin proteasome system protein	BrainSpLMD|7314	OMIM|191339;HPO|7314|Anterior open-bite malocclusion, Autosomal dominant inheritance, Cleft palate, Gingival overgrowth, Intellectual disability, profound, Micrognathia, Overbite, Seizures
oRG	SH3GL1	0.600419236	0.000136383	Unclassified	BrainSpLMD|6455;Eurexp|euxassay_000588|chondrocranium	OMIM|601768;COSMIC||AL
oRG	UGGT2	0.523279613	0.000136765	Enzyme: Glycosyltransferase	BrainSpLMD|55757	OMIM|605898
oRG	EEF2K	0.948516246	0.000138466	Serine/threonine kinase	BrainSpLMD|29904	OMIM|606968
oRG	SNRNP25	0.389139408	0.00013868	Ubiquitin proteasome system protein	BrainSpLMD|79622	
oRG	HUS1	0.407542529	0.000138806	Cell cycle control protein	BrainSpLMD|3364;Eurexp|euxassay_012664|choroid plexus, submandibular gland primordium, ventricular layer	OMIM|603760
oRG	GSTM3	0.36581065	0.000140185	Enzyme: Glutathione transferase	BrainSpLMD|2947;Eurexp|euxassay_018935|atrio-ventricular canal, axial muscle, basioccipital bone, basisphenoid bone, brain, central nervous system, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, labyrinth, lens, liver, mantle layer, nasal septum, neural retina, nucleus pulposus, olfactory, orbito-sphenoid, otic capsule, renal/urinary system, sphenoid, spinal cord, testis, trigeminal V, turbinate bones, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|138390
oRG	IL17RD	0.268157367	0.000147793	Cell surface receptor	BrainSpLMD|54756;Eurexp|euxassay_011690|excretory component, incisor, lung, olfactory, roof plate, ventricular layer, vomeronasal organ	OMIM|606807;HPO|54756|Abnormality of the voice, Anosmia, Anterior hypopituitarism, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Delayed puberty, Erectile abnormalities, Gynecomastia, Hypogonadism, Hypogonadotrophic hypogonadism, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Primary amenorrhea, Reduced bone mineral density, Sparse axillary hair, Sparse pubic hair
oRG	LYPLAL1	0.861897725	0.000147797	Unclassified	BrainSpLMD|127018	OMIM|616548
oRG	PARD3	0.822155741	0.000151176	Adapter molecule	BrainSpLMD|56288;BrainSpMouseDev|60394	OMIM|606745
oRG	RAB5B	0.64811391	0.000151851	GTPase	BrainSpLMD|5869	OMIM|179514
oRG	MBNL2	0.519830144	0.000154051	RNA binding protein	BrainSpLMD|10150;Eurexp|euxassay_005986|cerebral cortex, dorsal root ganglion, embryo, forebrain, glossopharyngeal IX, lung, midbrain, oesophagus, trigeminal V, vagus X	OMIM|607327
oRG	NEGR1	0.475839442	0.000154825	Unclassified	BrainSpLMD|257194	OMIM|613173
oRG	RAB5A	0.463785404	0.00015536	GTPase	BrainSpLMD|5868	OMIM|179512
oRG	EIF2B4	0.394640275	0.000156208	Translation regulatory protein	BrainSpLMD|8890	OMIM|606687;HPO|8890|Autosomal recessive inheritance, CNS demyelination, Cerebral hypomyelination, Cessation of head growth, Decreased circulating progesterone, Delusions, Developmental regression, Dysarthria, Emotional lability, Generalized hypotonia, Juvenile onset, Lethargy, Leukoencephalopathy, Macrocephaly, Memory impairment, Optic atrophy, Personality changes, Premature ovarian insufficiency, Primary gonadal insufficiency, Secondary amenorrhea, Seizures, Spasticity, Unsteady gait
oRG	NAMPT	0.431734075	0.000159817	Cytokine	BrainSpLMD|10135;Eurexp|euxassay_004817|axial muscle	OMIM|608764
oRG	CBY1	0.437552702	0.00016093	Unclassified	BrainSpLMD|25776;Eurexp|euxassay_010516|olfactory	OMIM|607757
oRG	C17orf80	0.617415543	0.000163481	Integral membrane protein	BrainSpLMD|55028	
oRG	HIST1H1C	0.293224837	0.000164326	DNA binding protein	BrainSpLMD|3006;Eurexp|euxassay_015954|ventricular layer	OMIM|142710
oRG	ZBTB4	0.365777725	0.000164718	Transcription regulatory protein	BrainSpLMD|57659	OMIM|612308
oRG	AIDA	1.199991088	0.000165124	Unclassified	BrainSpLMD|64853;Eurexp|euxassay_007099|embryo	OMIM|612375
oRG	TTC3P1	0.797739705	0.000165778			
oRG	BET1	0.380401847	0.00016618	Integral membrane protein	BrainSpLMD|10282	OMIM|605456
oRG	FAM3C	0.838546983	0.000166504	Cytokine	BrainSpMouseDev|27743	OMIM|608618
oRG	CCNY	1.120829825	0.000167108	Unclassified	BrainSpLMD|219771	OMIM|612786
oRG	PFN1	0.455323631	0.000167906	Cytoskeletal associated protein	BrainSpLMD|5216	OMIM|176610;HPO|5216|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dysarthria, Dysphagia, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Muscle weakness, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
oRG	SWAP70	0.686787982	0.000169921	Guanine nucleotide exchange factor	BrainSpLMD|23075	OMIM|604762
oRG	RP11.760D2.7	0.262153179	0.000170406			
oRG	TDRD3	0.957120819	0.000172444	RNA binding protein	BrainSpLMD|81550	OMIM|614392
oRG	BACE1	0.542009021	0.000174421	Aspartic protease	BrainSpLMD|23621	OMIM|604252
oRG	ADAMTS6	1.188592549	0.000174856	Metallo protease	BrainSpLMD|11174	OMIM|605008
oRG	PGM2	0.353192477	0.000176419	Enzyme: Phosphotransferase	BrainSpLMD|55276	OMIM|172000
oRG	MLLT10	0.265789211	0.000177815	Transcription factor	BrainSpLMD|8028	OMIM|602409;COSMIC||AL
oRG	NCKAP1	0.40797836	0.000184929	Integral membrane protein	BrainSpLMD|10787;Eurexp|euxassay_009378|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|30368	SFARI||Autism, 2 - Strong candidate;OMIM|604891
oRG	CENPBD1P1	0.329974976	0.000184986		BrainSpLMD|65996	
oRG	FAM199X	0.809528939	0.000188118	Unclassified	BrainSpLMD|139231;Eurexp|euxassay_003359|dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, left lung, right lung, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	
oRG	DMWD	0.461754219	0.000189794	Unclassified	BrainSpLMD|1762	OMIM|609857
oRG	PPIE	0.70630088	0.000191718	Enzyme: Isomerase;RNA binding protein	BrainSpLMD|10450	OMIM|602435
oRG	PAQR7	0.440223934	0.000193122	Cell surface receptor	BrainSpLMD|164091;Eurexp|euxassay_006273|ventricular layer	OMIM|607779
oRG	FSTL5	0.458359578	0.000194421	Extracellular matrix protein	BrainSpLMD|56884	
oRG	MYADM	0.573957115	0.000207569	Unclassified	BrainSpLMD|91663;Eurexp|euxassay_004288|femur, footplate, forelimb, hindlimb, mesenchyme, tail	OMIM|609959
oRG	SMAD4	0.355192529	0.000210988	Transcription factor	BrainSpLMD|4089;Eurexp|euxassay_005333|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, orbito-sphenoid, trigeminal V, vagus X;BrainSpMouseDev|16898	SFARI||Autism, 3 - Suggestive evidence;OMIM|600993;COSMIC||colorectal, pancreatic, small intestine, gastrointestinal polyp;HPO|4089|2-3 toe syndactyly, Abdominal pain, Abnormality of epiphysis morphology, Abnormality of the cardiac septa, Abnormality of the metaphysis, Abnormality of the pubic bone, Abnormality of the ribs, Abnormality of the voice, Anemia, Aortic valve stenosis, Autism, Autosomal dominant inheritance, Blepharophimosis, Brachydactyly, Broad ribs, Camptodactyly, Cavernous hemangioma, Cholecystitis, Clinodactyly, Coarctation of aorta, Cone-shaped epiphysis, Craniofacial hyperostosis, Cryptorchidism, Deeply set eye, EMG abnormality, Enlarged vertebral pedicles, Epistaxis, Failure to thrive, Fine hair, Generalized muscle hypertrophy, Global developmental delay, Hamartomatous polyposis, Hearing impairment, Hematochezia, High-grade hypermetropia, Hypermetropia, Hypertelorism, Hypertension, Hypoalbuminemia, Hypokalemia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Intellectual disability, Intrauterine growth retardation, Joint stiffness, Large iliac wings, Laryngotracheal stenosis, Limitation of joint mobility, Low-set ears, Malar flattening, Mandibular prognathia, Microcephaly, Microcytic anemia, Microtia, Midface retrusion, Migraine, Multiple gastric polyps, Narrow mouth, Neoplasm of the pancreas, Overlapping toe, Patent ductus arteriosus, Pericardial effusion, Platyspondyly, Portal hypertension, Prominent nasal bridge, Ptosis, Radial deviation of finger, Seizures, Severe short stature, Short finger, Short long bone, Short neck, Short palm, Short palpebral fissure, Short philtrum, Short stature, Short toe, Skeletal muscle hypertrophy, Somatic mutation, Sparse hair, Specific learning disability, Spontaneous hematomas, Stiff skin, Strabismus, Telangiectasia of the skin, Thick eyebrow, Thickened calvaria, Thickened skin, Thin upper lip vermilion, Thin vermilion border, Vertebral fusion, Visceral angiomatosis
oRG	GGCT	0.626642596	0.000215475	Unclassified	BrainSpLMD|79017	OMIM|137170
oRG	SETX	0.572371775	0.000215877	DNA helicase	BrainSpLMD|23064	OMIM|608465;HPO|23064|Abnormal lower motor neuron morphology, Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Amyotrophic lateral sclerosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Axonal degeneration, Babinski sign, Decreased motor nerve conduction velocity, Degeneration of anterior horn cells, Difficulty walking, Diffuse axonal swelling, Distal muscle weakness, Elevated serum creatine phosphokinase, Gaze-evoked nystagmus, Hyperreflexia, Impaired distal vibration sensation, Increased antibody level in blood, Limb ataxia, Pallor of dorsal columns of the spinal cord, Pes cavus, Polyneuropathy, Pontocerebellar atrophy, Progressive, Progressive gait ataxia, Saccadic smooth pursuit, Slow progression, Variable expressivity
oRG	GALM	0.955194353	0.000216732	Enzyme: Epimerase	BrainSpLMD|130589;Eurexp|euxassay_000580|olfactory	OMIM|137030
oRG	CAT	0.263729153	0.000216844	Enzyme: Oxidoreductase	BrainSpLMD|847	OMIM|115500;HPO|847|Autosomal recessive inheritance, Oral ulcer, Reduced catalase activity
oRG	TSEN34	0.739683984	0.000218294	RNA endonuclease	BrainSpLMD|79042	OMIM|608754;HPO|79042|Autosomal recessive inheritance, Cerebellar hemisphere hypoplasia, Cerebellar vermis hypoplasia, Chorea, Dystonia, Microcephaly, Visual impairment
oRG	GLDC	0.448728193	0.000221046	Enzyme: Decarboxylase	BrainSpLMD|2731	OMIM|238300;HPO|2731|Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Death in infancy, Encephalopathy, Generalized hypotonia, Hyperactivity, Hyperglycinemia, Hyperglycinuria, Hyperreflexia, Impulsivity, Intellectual disability, Irritability, Lethargy, Myoclonus, Recurrent singultus, Restlessness, Seizures
oRG	MTIF2	0.779546565	0.000221069	Translation regulatory protein	BrainSpLMD|4528;Eurexp|euxassay_018139|lobe, testis, vibrissa	OMIM|603766
oRG	HELB	0.635922284	0.000223962	DNA helicase	BrainSpLMD|92797	OMIM|614539
oRG	YES1	0.796743017	0.000224633	Tyrosine kinase	BrainSpLMD|7525	OMIM|164880
oRG	TUBB6	0.279580367	0.000226245	Cytoskeletal protein	BrainSpLMD|84617;Eurexp|euxassay_015347|cervical, cervico-thoracic, cochlear component, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, inferior, medulla oblongata, metencephalon, midbrain, neural retina, nucleus pulposus, olfactory, spinal cord, stroma, superior, telencephalon, thoracic, tongue, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII	OMIM|615103
oRG	PIGF	0.366148334	0.000228763	Enzyme: Transferase	BrainSpLMD|5281;Eurexp|euxassay_006965|pancreas, stomach	OMIM|600153
oRG	LRP1	0.272240689	0.000250392	Cell surface receptor	BrainSpLMD|4035;Eurexp|euxassay_011128|mesenchyme, ventricular layer;BrainSpMouseDev|16741	OMIM|107770;HPO|4035|Autosomal recessive inheritance
oRG	ZC3HAV1	1.101407429	0.000251567	-	BrainSpLMD|56829;Eurexp|euxassay_012472|lobe, thymus primordium	OMIM|607312
oRG	GPR180	1.061557315	0.000259733	G protein coupled receptor	BrainSpLMD|160897	OMIM|607787
oRG	GUSB	0.491422486	0.000260305	Enzyme: Hydrolase	BrainSpLMD|2990;Eurexp|euxassay_002565|axial muscle, orbito-sphenoid, pancreas;BrainSpMouseDev|74163	OMIM|611499;HPO|2990|Abnormality of the heart valves, Abnormality of the hip bone, Abnormality of the pleura, Acetabular dysplasia, Anterior beaking of lower thoracic vertebrae, Anterior beaking of lumbar vertebrae, Ascites, Autosomal recessive inheritance, Coarse facial features, Corneal opacity, Dermatan sulfate excretion in urine, Diaphyseal thickening, Dysostosis multiplex, Epiphyseal stippling, Flat face, Flexion contracture, Hearing impairment, Hepatitis, Hepatomegaly, Hirsutism, Hydrocephalus, Hydrops fetalis, Hypoplasia of the odontoid process, Inguinal hernia, Intellectual disability, J-shaped sella turcica, Joint stiffness, Lymphedema, Macrocephaly, Metatarsus adductus, Mucopolysacchariduria, Muscular hypotonia, Narrow greater sacrosciatic notches, Neurodegeneration, Pectus carinatum, Platyspondyly, Postnatal growth retardation, Proximal tapering of metacarpals, Recurrent respiratory infections, Scoliosis, Short neck, Short stature, Splenomegaly, Thoracolumbar kyphosis, Umbilical hernia, Urinary glycosaminoglycan excretion
oRG	KCTD15	0.956563988	0.000263392	Ion channel	BrainSpLMD|79047	OMIM|615240
oRG	TACC1	0.658176302	0.00026517	Cell cycle control protein	BrainSpLMD|6867	OMIM|605301
oRG	PSMD9	0.305804723	0.000266885	Ubiquitin proteasome system protein	BrainSpLMD|5715;Eurexp|euxassay_012010|exoccipital bone, orbito-sphenoid, petrous part	OMIM|603146
oRG	GGCX	0.425583374	0.000272071	Enzyme: Carboxylase	BrainSpLMD|2677	OMIM|137167;HPO|2677|Abnormal bleeding, Abnormality of coagulation, Abnormality of the optic nerve, Absent retinal pigment epithelium, Angioid streaks of the retina, Atherosclerosis, Attenuation of retinal blood vessels, Autosomal recessive inheritance, Bruising susceptibility, Cutis laxa, Epiphyseal stippling, Epistaxis, Increased number of skin folds, Joint hemorrhage, Nyctalopia, Papule, Prolonged partial thromboplastin time, Reduced factor IX activity, Reduced factor VII activity, Reduced factor X activity, Reduced prothrombin activity, Redundant skin, Rod-cone dystrophy, Short distal phalanx of finger, Short nose, Strabismus
oRG	UEVLD	0.968899852	0.000272926	Ubiquitin proteasome system protein	BrainSpLMD|55293	OMIM|610985
oRG	BLOC1S3	0.464925813	0.000276919	Unclassified	BrainSpLMD|388552	OMIM|609762;HPO|388552|Albinism, Autosomal recessive inheritance, Bruising susceptibility, Ocular albinism, Visual impairment
oRG	CAP2	0.728647249	0.000281047	Unclassified	BrainSpLMD|10486;Eurexp|euxassay_002560|diaphragm, head mesenchyme, marginal layer, tongue, vertebral axis muscle system	
oRG	MVD	0.354702964	0.000288147	Enzyme: Decarboxylase	BrainSpLMD|4597	OMIM|603236;HPO|4597|Autosomal dominant inheritance, Cutaneous photosensitivity, Porokeratosis
oRG	CDKL2	0.312245373	0.000289609	Serine/threonine kinase	BrainSpLMD|8999	OMIM|603442
oRG	RECQL	0.279718352	0.000290743	DNA helicase	BrainSpLMD|5965	OMIM|600537
oRG	KNTC1	0.584728425	0.00029148	Cell cycle control protein	BrainSpLMD|9735;Eurexp|euxassay_011295|ventricular layer	OMIM|607363
oRG	ZNF32	0.469974586	0.000294093	DNA binding protein;Transcription regulatory protein	BrainSpLMD|7580;Eurexp|euxassay_007349|ventricular layer	OMIM|194539
oRG	CDIP1	0.720704264	0.000296308	Unclassified	BrainSpLMD|29965	OMIM|610503
oRG	C14orf119	1.187668971	0.000299527	Unclassified		
oRG	OCIAD1	0.298250176	0.000301133	Unclassified	BrainSpLMD|54940	
oRG	CHID1	0.825883509	0.000302642	Transport/cargo protein	BrainSpLMD|66005	OMIM|615692
oRG	LEPREL4	0.589698617	0.00030568			
oRG	TRAPPC2P1	0.728612161	0.000307135			
oRG	SNX18	0.514284407	0.000307501	Transport/cargo protein	BrainSpLMD|112574;Eurexp|euxassay_012165|bladder, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, metanephros, trigeminal V, vestibulocochlear VIII	
oRG	COX15	0.704170773	0.000308523	Unclassified	BrainSpLMD|1355	OMIM|603646;HPO|1355|Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Decreased fetal movement, Dysarthria, Dystonia, Emotional lability, Encephalopathy, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatic steatosis, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Microcephaly, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
oRG	USP34	0.277115953	0.000313997	Ubiquitin proteasome system protein	BrainSpLMD|9736	OMIM|615295
oRG	ESD	0.38644655	0.000314674	Enzyme: Esterase	BrainSpLMD|2098	OMIM|133280
oRG	RALA	0.322422525	0.000319465	GTPase	BrainSpLMD|5898;Eurexp|euxassay_012473|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, trigeminal V, vagus X	OMIM|179550
oRG	SLC25A13	0.560718491	0.000323475	Calcium binding protein;Transport/cargo protein	BrainSpLMD|10165;Eurexp|euxassay_006704|adrenal gland, choroid invagination, choroid plexus, cortex, incisor, left lung, liver, midgut, olfactory, orbito-sphenoid, pancreas, rectum, right lung, stomach, submandibular gland primordium, thymus primordium, thyroid, ventricle, ventricular layer, vibrissa	OMIM|603859;HPO|10165|Autosomal recessive inheritance, Cerebral edema, Cirrhosis, Coma, Confusion, Decreased circulating high-density lipoprotein levels, Elevated hepatic transaminases, Elevated plasma citrulline, Failure to thrive, Growth delay, Hepatic steatosis, Hepatocellular carcinoma, Hyperammonemia, Hyperbilirubinemia, Hypercholesterolemia, Hypermethioninemia, Hypertriglyceridemia, Intrahepatic cholestasis, Pancreatitis
oRG	UBE2H	0.31403097	0.000327748	Ubiquitin proteasome system protein	BrainSpLMD|7328	SFARI||Autism, 4 - Minimal evidence;OMIM|601082
oRG	APBA1	0.621170995	0.000330441	Adapter molecule	BrainSpLMD|320;Eurexp|euxassay_007658|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn;BrainSpMouseDev|106859	OMIM|602414
oRG	CDON	0.29109955	0.000334431	Cell surface receptor	BrainSpLMD|50937;BrainSpMouseDev|37081	OMIM|608707;HPO|50937|Agenesis of corpus callosum, Autosomal dominant inheritance, Cleft lip, Cleft palate, Delayed puberty, Ectopic posterior pituitary, Failure to thrive, Global developmental delay, Holoprosencephaly, Hypoglycemia, Hypoplasia of penis, Hypotelorism, Hypothyroidism, Microcephaly, Polysplenia, Proptosis, Short stature, Sporadic, Synophrys, Thick eyebrow, Variable expressivity
oRG	KATNBL1	0.476203825	0.000337537	Unclassified		OMIM|616235
oRG	PARP1	0.276514869	0.000344326	Enzyme: Ribosyltransferase	BrainSpLMD|142	OMIM|173870
oRG	TMEM9	0.578339837	0.000346201	Integral membrane protein	BrainSpLMD|252839;Eurexp|euxassay_003611|choroid plexus, incisor, lateral recess, molar	OMIM|616877
oRG	DNAJC1	0.450377597	0.000353428	Chaperone	BrainSpLMD|64215	OMIM|611207
oRG	IMPA1	1.00338828	0.000357701	Enzyme: Phosphatase	BrainSpLMD|3612	OMIM|602064;HPO|3612|Aggressive behavior, Autosomal recessive inheritance, Intellectual disability, Paranoia
oRG	VPS13D	0.289108622	0.000358826	Transport/cargo protein	BrainSpLMD|55187	OMIM|608877
oRG	MYEOV2	0.39796321	0.000363227			
oRG	VPS28	0.342684683	0.000363781	Transport/cargo protein	BrainSpLMD|51160	OMIM|611952
oRG	NDUFB6	0.506098658	0.000365404	Regulatory/other subunit	BrainSpLMD|4712	OMIM|603322
oRG	FAM161A	0.525165287	0.000372691	Unclassified	Eurexp|euxassay_013156|choroid invagination, choroid plexus, roof plate	OMIM|613596;HPO|84140|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
oRG	ALDH7A1	0.322236023	0.000373887	Enzyme: Oxidoreductase	BrainSpLMD|501	OMIM|107323;HPO|501|Abnormality of metabolism/homeostasis, Abnormality of movement, Autosomal recessive inheritance, Delayed speech and language development, EEG abnormality, Fetal distress, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Intellectual disability, Muscular hypotonia, Neonatal respiratory distress, Neurological speech impairment, Prenatal movement abnormality, Respiratory distress, Status epilepticus
oRG	XYLT1	0.526484751	0.000374014	Enzyme: Transferase	BrainSpLMD|64131	OMIM|608124;HPO|64131|Abnormality of the eyelashes, Abnormality of the metaphysis, Accelerated skeletal maturation, Advanced ossification of carpal bones, Anteverted nares, Aplasia/Hypoplasia of the abdominal wall musculature, Autosomal recessive inheritance, Bell-shaped thorax, Blue sclerae, Camptodactyly of finger, Clinodactyly of the 5th finger, Coxa valga, Coxa vara, Depressed nasal bridge, Disproportionate short-limb short stature, Elbow dislocation, Epiphyseal dysplasia, Flat face, Genu recurvatum, Glaucoma, Hypotrichosis, Intellectual disability, Joint hyperflexibility, Joint laxity, Long philtrum, Low-set, posteriorly rotated ears, Metaphyseal widening, Patellar dislocation, Proptosis, Radioulnar synostosis, Relative macrocephaly, Round face, Scoliosis, Severe short stature, Short clavicles, Short long bone, Short metacarpal, Short neck, Short phalanx of finger, Short stature, Small hand, Ventricular septal defect
oRG	AP1B1	1.269199716	0.000374776	Transport/cargo protein	BrainSpLMD|162	OMIM|600157
oRG	TBCB	0.409684043	0.000383528	Chaperone	BrainSpLMD|1155	OMIM|601303
oRG	FOXG1.AS1	0.464236265	0.000384767			
oRG	SLC1A4	1.369739671	0.000388189	Transport/cargo protein	BrainSpLMD|6509;Eurexp|euxassay_019712|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, lung, olfactory, spinal cord, thymus primordium, trigeminal V, vomeronasal organ;BrainSpMouseDev|35249	OMIM|600229;HPO|6509|Autosomal recessive inheritance, Babinski sign, Cerebral atrophy, Congenital onset, Generalized hypotonia, Global developmental delay, Hyperactivity, Hyperreflexia, Hypoplasia of the corpus callosum, Inability to walk, Intellectual disability, Irritability, Progressive microcephaly, Spastic tetraplegia
oRG	GPR137B	1.220890894	0.000388189	G protein coupled receptor	BrainSpLMD|7107;Eurexp|euxassay_002728|lens, mandible, maxilla	OMIM|604658
oRG	RALB	0.692321564	0.000391767	GTPase	BrainSpLMD|5899	OMIM|179551
oRG	RP5.821D11.7	0.36450171	0.000394681			
oRG	FAM162A	0.36957556	0.00039753	Unclassified	BrainSpLMD|26355	OMIM|608017
oRG	BTN3A1	1.071540656	0.000397604	Immunoglobulin	BrainSpLMD|11119	OMIM|613593
oRG	LRTOMT	0.380014737	0.00040489	Unclassified	BrainSpLMD|220074;Eurexp|euxassay_014006|choroid plexus	OMIM|612414;HPO|220074|Autosomal recessive inheritance, Congenital onset, Congenital sensorineural hearing impairment
oRG	DCUN1D3	0.93862813	0.000406109	Unclassified	BrainSpLMD|123879;BrainSpMouseDev|87722	OMIM|616167
oRG	EXT1	0.674652918	0.000412775	Enzyme: Glycosyltransferase	BrainSpLMD|2131;Eurexp|euxassay_003308|axial skeleton, extrinsic ocular muscle, incisor, lung, marginal layer, mesenchyme, midgut, molar, pelvic girdle, penis, skeletal muscle, skin, sternum, stomach, submandibular gland primordium, trachea, turbinate bones, urethra, valve, ventral grey horn, ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|608177;COSMIC||exostoses, osteosarcoma;HPO|2131|Abnormality of femur morphology, Abnormality of the dentition, Abnormality of the foot, Abnormality of the humerus, Abnormality of the metaphysis, Abnormality of tibia morphology, Anteverted nares, Aplasia/Hypoplasia of the mandible, Aseptic necrosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone pain, Bulbous nose, Cervical myelopathy, Chondrosarcoma, Cone-shaped epiphyses of the phalanges of the hand, Coxa vara, Cranial nerve paralysis, Deep philtrum, Delayed skeletal maturation, Failure to thrive, Genu valgum, Hypoplasia of the ulna, Intellectual disability, Joint dislocation, Joint hyperflexibility, Juvenile onset, Long philtrum, Low-set, posteriorly rotated ears, Madelung deformity, Madelung-like forearm deformities, Micromelia, Multiple exostoses, Multiple long-bone exostoses, Muscle weakness, Pelvic bone exostoses, Peripheral nerve compression, Protruding ear, Protuberances at ends of long bones, Radial bowing, Redundant skin, Rib exostoses, Scapular exostoses, Short metacarpal, Short stature, Sparse scalp hair, Thick eyebrow, Thin upper lip vermilion
oRG	VPS25	0.45295994	0.000416748	Transport/cargo protein	BrainSpLMD|84313	OMIM|610907
oRG	RHBDD2	0.676742967	0.000420923	Integral membrane protein	BrainSpLMD|57414	OMIM|615203
oRG	POU2F1	0.30679647	0.000421824	Transcription factor	BrainSpLMD|5451;BrainSpMouseDev|18749	OMIM|164175
oRG	HBP1	0.46157278	0.000423867	Transcription factor	BrainSpLMD|26959;BrainSpMouseDev|49230	OMIM|616714
oRG	KIAA0141	0.2547523	0.000424424	Unclassified	BrainSpLMD|9812	OMIM|615741
oRG	PIAS3	0.501535391	0.000429928	Transcription regulatory protein	BrainSpLMD|10401;Eurexp|euxassay_012427|ventricular layer	OMIM|605987
oRG	MARK3	0.458121833	0.000437966	Serine/threonine kinase	BrainSpLMD|4140	OMIM|602678
oRG	CXXC5	0.531091213	0.000442263	DNA binding protein	BrainSpLMD|51523	OMIM|612752
oRG	USP2	0.311324744	0.000450747	Ubiquitin proteasome system protein	BrainSpLMD|9099	OMIM|604725
oRG	LASP1	0.678922114	0.000456801	Cytoskeletal associated protein	BrainSpLMD|3927;Eurexp|euxassay_000055|cerebral cortex, olfactory lobe	OMIM|602920;COSMIC||AML
oRG	PLD3	0.722591532	0.000456816	Enzyme: Phospholipase	BrainSpLMD|23646	OMIM|615698
oRG	RPS19BP1	0.839573307	0.000471426	Unclassified	BrainSpLMD|91582	OMIM|610225
oRG	C5orf51	0.259566218	0.000472631	Unclassified	BrainSpLMD|285636;Eurexp|euxassay_002027|brain, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vagus X	
oRG	SSR3	0.711279931	0.000485534	Membrane transport protein	BrainSpLMD|6747	OMIM|606213
oRG	NPHP3	0.891473935	0.000493074	Adapter molecule	BrainSpLMD|27031	OMIM|608002;HPO|27031|Abnormality of retinal pigmentation, Aortic valve stenosis, Asplenia, Atrial septal defect, Autosomal recessive inheritance, Bile duct proliferation, Biliary cirrhosis, Cholestasis, Cirrhosis, Dandy-Walker malformation, Enlarged kidney, Enuresis, Global developmental delay, Hepatic cysts, Hepatic fibrosis, Hepatomegaly, Hypertension, Intestinal malrotation, Nephronophthisis, Oligohydramnios, Pancreatic cysts, Pancreatic fibrosis, Patent ductus arteriosus, Polycystic kidney dysplasia, Polydipsia, Polysplenia, Polyuria, Potter facies, Premature ovarian insufficiency, Progressive visual loss, Pulmonary hypoplasia, Renal corticomedullary cysts, Renal dysplasia, Renal insufficiency, Retinal dystrophy, Short stature, Stage 5 chronic kidney disease, Tubular atrophy, Tubulointerstitial fibrosis, Visual impairment
oRG	SNX7	0.487956276	0.0004957	Unclassified	BrainSpLMD|51375	OMIM|614904
oRG	GLOD4	0.845624599	0.000505356	Unclassified	BrainSpLMD|51031	
oRG	NME6	0.694334461	0.000510339	Enzyme: Phosphotransferase	BrainSpLMD|10201;Eurexp|euxassay_006508|embryo	OMIM|608294
oRG	MOSPD2	0.436232025	0.000522542	Integral membrane protein	BrainSpLMD|158747;Eurexp|euxassay_014284|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate, vault of skull	
oRG	VAMP3	0.453378618	0.000523707	Integral membrane protein	BrainSpLMD|9341	OMIM|603657
oRG	AC011043.1	0.511518559	0.000525757			
oRG	CCDC6	0.500118763	0.000527772	Unclassified;Cell cycle control protein	BrainSpLMD|8030	OMIM|601985;COSMIC||papillary thyroid, CML, NSCLC;HPO|8030|Autosomal dominant inheritance, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma
oRG	CCDC47	0.32877359	0.000529259	Unclassified	BrainSpLMD|57003;Eurexp|euxassay_000833|submandibular gland primordium	
oRG	TMEM248	0.52741379	0.0005347	Unclassified	BrainSpLMD|55069;Eurexp|euxassay_012566|ventricle	
oRG	RNF14	0.483425625	0.000539314	Transcription regulatory protein	BrainSpLMD|9604;Eurexp|euxassay_004677|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X;BrainSpMouseDev|36015	OMIM|605675
oRG	AK3	0.542830837	0.000540454	Enzyme: Phosphotransferase	BrainSpLMD|50808;Eurexp|euxassay_003106|submandibular gland primordium, ventricular layer	OMIM|609290
oRG	ANKDD1A	0.303844275	0.000540752	Unclassified	BrainSpLMD|348094	
oRG	STIM2	0.360647984	0.000547163	Adhesion molecule	BrainSpLMD|57620	OMIM|610841
oRG	TEX9	0.30996277	0.000551488	Unclassified	BrainSpLMD|374618	
oRG	C2orf43	0.763063376	0.00055539			
oRG	ZSCAN18	1.148373124	0.000559591	Transcription factor	BrainSpLMD|65982	
oRG	DUSP3	0.806110575	0.000560733	Dual specificity phosphatase	BrainSpLMD|1845;Eurexp|euxassay_001212|glossopharyngeal IX, vagus X	OMIM|600183
oRG	COMMD8	0.789264259	0.000564705	Unclassified	BrainSpLMD|54951	OMIM|616656
oRG	PNPT1	0.274667399	0.000565852	RNA exonuclease	BrainSpLMD|87178	OMIM|610316;HPO|87178|Absent speech, Autosomal recessive inheritance, Choreoathetosis, Decreased nerve conduction velocity, Dyskinesia, Dystonia, Growth delay, Hearing impairment, Hyporeflexia, Severe muscular hypotonia, Skeletal muscle atrophy
oRG	DOCK7	0.549023339	0.000575738	Guanine nucleotide exchange factor	BrainSpLMD|85440;Eurexp|euxassay_013589|epithelium, mantle layer, molar, oral epithelium, pharyngo-tympanic tube, stomach, vibrissa	OMIM|615730;HPO|85440|Abnormality of the pinna, Autosomal recessive inheritance, Broad nasal tip, Cortical visual impairment, Epileptic encephalopathy, Global developmental delay, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Hypsarrhythmia, Infantile onset, Low anterior hairline, Narrow forehead, Periorbital fullness, Short philtrum, Telecanthus, Thick eyebrow, Thick vermilion border
oRG	SFT2D2	0.505207654	0.000577326	Unclassified	BrainSpLMD|375035	
oRG	TBC1D5	0.372382125	0.000590976	Unclassified	BrainSpLMD|9779	SFARI||Autism, 4 - Minimal evidence;OMIM|615740
oRG	UBE2D4	0.41979391	0.000595255	Ubiquitin proteasome system protein	BrainSpLMD|51619	
oRG	SNRPGP10	0.572321495	0.000595396			
oRG	H3F3B	0.341345387	0.000599651	DNA binding protein	BrainSpLMD|3021;Eurexp|euxassay_005704|embryo	OMIM|601058;COSMIC||chondroblastoma
oRG	ZCCHC2	1.203266989	0.00060125	Transcription regulatory protein	BrainSpLMD|54877;Eurexp|euxassay_012732|metanephros, submandibular gland primordium, thymus primordium	
oRG	RP5.882C2.2	1.019882888	0.000611429			
oRG	MAP3K7	0.733011458	0.000614438	Serine/threonine kinase	BrainSpLMD|6885;BrainSpMouseDev|26157	OMIM|602614;HPO|6885|Abnormal form of the vertebral bodies, Abnormality of dental morphology, Abnormality of the dentition, Abnormality of the metaphysis, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Anteverted nares, Autosomal dominant inheritance, Bicuspid aortic valve, Bowing of the long bones, Brachydactyly, Broad nasal tip, Camptodactyly, Camptodactyly of finger, Carpal synostosis, Conductive hearing impairment, Cone-shaped epiphysis, Congenital hip dislocation, Congenital sensorineural hearing impairment, Craniofacial hyperostosis, Decreased testicular size, Deep philtrum, Delayed skeletal maturation, Depressed nasal bridge, Dislocated radial head, Downslanted palpebral fissures, Elbow dislocation, Failure to thrive, Freckling, Full cheeks, Fused cervical vertebrae, Gastroesophageal reflux, High palate, Hip contracture, Hypertelorism, Hypoplasia of the musculature, Irregular metacarpals, Joint laxity, Joint stiffness, Long fingers, Long metacarpals, Long philtrum, Micrognathia, Mitral regurgitation, Patent ductus arteriosus, Patent foramen ovale, Pointed chin, Posterior vertebral hypoplasia, Posteriorly rotated ears, Prominent supraorbital ridges, Pseudoepiphyses, Pulmonic stenosis, Recurrent otitis media, Reduced number of teeth, Rib fusion, Scoliosis, Sensorineural hearing impairment, Short distal phalanx of hallux, Short distal phalanx of the thumb, Short foot, Short metacarpal, Short metatarsal, Short philtrum, Short stature, Strabismus, Subglottic stenosis, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Telecanthus, Thick eyebrow, Tracheal stenosis, Ulnar deviation of finger, Ulnar deviation of the hand, Upslanted palpebral fissure, Vesicoureteral reflux, Wide nasal bridge
oRG	RAC1	0.259402993	0.00062656	GTPase	BrainSpLMD|5879;BrainSpMouseDev|19116	OMIM|602048;COSMIC||melanoma, carcinoma
oRG	EIF2B2	0.500257397	0.000634213	Translation regulatory protein	BrainSpLMD|8892;Eurexp|euxassay_000019|dorsal root ganglion, ganglion, vibrissa	OMIM|606454;HPO|8892|Autosomal recessive inheritance, CNS demyelination, Cerebral hypomyelination, Cessation of head growth, Decreased circulating progesterone, Delusions, Developmental regression, Dysarthria, Emotional lability, Generalized hypotonia, Juvenile onset, Lethargy, Leukoencephalopathy, Macrocephaly, Memory impairment, Optic atrophy, Personality changes, Premature ovarian insufficiency, Primary gonadal insufficiency, Secondary amenorrhea, Seizures, Spasticity, Unsteady gait
oRG	AP5S1	0.271331756	0.000636915	Unclassified	BrainSpLMD|55317	OMIM|614824
oRG	TMEM147	0.568556468	0.000638509	Integral membrane protein	BrainSpLMD|10430	OMIM|613585
oRG	PDXK	0.815028464	0.000640516	Enzyme: Phosphotransferase	BrainSpLMD|8566;Eurexp|euxassay_018332|clavicle, cortex, hindgut, incisor, lobe, lung, mandible, maxilla, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, rectum, submandibular gland primordium, thymus primordium, thyroid, urethra, ventricular layer, vibrissa, vomeronasal organ	OMIM|179020
oRG	USO1	0.352517865	0.000646528	Transport/cargo protein	BrainSpLMD|8615	OMIM|603344
oRG	PDZD11	0.664016609	0.000654565	Unclassified	BrainSpLMD|51248	OMIM|300632
oRG	8-Mar	0.610068348	0.00065788			
oRG	SEC24D	0.646412031	0.000667898	Transport/cargo protein	BrainSpLMD|9871;Eurexp|euxassay_010979|marginal layer	OMIM|607186;HPO|9871|Abnormal form of the vertebral bodies, Abnormality of dental enamel, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the voice, Autosomal recessive inheritance, Blue sclerae, Bowing of the long bones, Communicating hydrocephalus, Coronal craniosynostosis, Crumpled long bones, Delayed eruption of teeth, Downslanted palpebral fissures, Frontal bossing, High palate, High pitched voice, Hydrocephalus, Hypertelorism, Intrauterine growth retardation, Kyphosis, Lambdoidal craniosynostosis, Macrocephaly, Micrognathia, Microretrognathia, Midface retrusion, Muscular hypotonia, Oligohydramnios, Osteopenia, Pectus excavatum, Platyspondyly, Postnatal growth retardation, Proptosis, Recurrent fractures, Scoliosis, Short stature, Skeletal dysplasia, Thin ribs, Triangular face, Turricephaly, Wormian bones
oRG	LSM10	0.517695634	0.000675414	RNA binding protein	BrainSpLMD|84967	
oRG	MORN2	0.770640354	0.000692855	Unclassified	BrainSpLMD|729967	
oRG	COQ10B	0.338412875	0.000701488	Unclassified	BrainSpLMD|80219	
oRG	PRKAA1	0.804611704	0.000723091	Serine/threonine kinase	BrainSpLMD|5562	OMIM|602739
oRG	YIPF3	0.455831643	0.000730431	Integral membrane protein	BrainSpLMD|25844	OMIM|609775
oRG	VKORC1	0.964665724	0.000737828	Enzyme: Reductase;Coagulation factor	BrainSpLMD|79001;Eurexp|euxassay_000753|Meckel's cartilage, chondrocranium, incisor, molar	OMIM|608547;HPO|79001|Abnormal bleeding, Abnormality of blood and blood-forming tissues, Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Autosomal recessive inheritance, Reduced factor IX activity, Reduced factor VII activity, Reduced factor X activity, Reduced prothrombin activity
oRG	MOB3A	0.407038093	0.000745953	Unclassified	BrainSpLMD|126308	
oRG	PFKL	0.699520338	0.000750624	Enzyme: Phosphotransferase	BrainSpLMD|5211;Eurexp|euxassay_017900|axial skeleton, basioccipital bone, clavicle, hindgut, incisor, left ventricle, loop, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pituitary, rectum, rib, right ventricle, stomach, submandibular gland primordium, temporal bone, thymus primordium, trachea, vertebral axis muscle system, vibrissa	OMIM|171860
oRG	LSM6	0.442743215	0.000759899	RNA binding protein	BrainSpLMD|11157	OMIM|607286
oRG	AGGF1	1.021383756	0.000776812	Growth factor	BrainSpLMD|55109;Eurexp|euxassay_005113|embryo	OMIM|608464;HPO|55109|Cellulitis, Gastrointestinal hemorrhage, Hemangioma, Lower limb asymmetry, Pulmonary embolism, Tall stature, Upper limb asymmetry, Venous insufficiency, Venous thrombosis
oRG	EFTUD2	0.742951819	0.000778991	Unclassified	BrainSpLMD|9343	OMIM|603892;HPO|9343|Abnormality of the antihelix, Absent tragus, Accessory oral frenulum, Anteverted nares, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Choanal atresia, Cleft palate, Conductive hearing impairment, Deep philtrum, Delayed speech and language development, Downslanted palpebral fissures, Epicanthus, Feeding difficulties, Feeding difficulties in infancy, Global developmental delay, Hypoplasia of the maxilla, Intellectual disability, Large earlobe, Low-set ears, Malar flattening, Mandibulofacial dysostosis, Microcephaly, Micrognathia, Microtia, Midface retrusion, Morphological abnormality of the middle ear, Overfolded helix, Postnatal microcephaly, Preauricular skin tag, Preaxial hand polydactyly, Progressive microcephaly, Respiratory distress, Short nose, Short stature, Slender finger, Telecanthus, Trigonocephaly, Underdeveloped tragus, Upslanted palpebral fissure
oRG	POLE4	0.967629384	0.000792783	DNA polymerase	BrainSpLMD|56655;BrainSpMouseDev|42822	OMIM|607269
oRG	PSMA2	0.528987876	0.000806523	Ubiquitin proteasome system protein	BrainSpLMD|5683	OMIM|176842
oRG	KDELR2	0.584828725	0.000815995	Transport/cargo protein	BrainSpLMD|11014;Eurexp|euxassay_004155|axial skeleton, cervical region, clavicle, cranium, femur, fibula, footplate, handplate, humerus, leg, lumbar region, mandible, orbito-sphenoid, otic capsule, palatal shelf, radius, rib, sacral region, sternum, thoracic region, tibia, turbinate bones, ulna	OMIM|609024
oRG	C8orf59	0.353407224	0.000822249	Unclassified	BrainSpLMD|401466	
oRG	ICE2	0.464770854	0.000840255	DNA binding protein	BrainSpLMD|79664	OMIM|610835
oRG	PRKCA	0.4818528	0.000842781	Serine/threonine kinase	BrainSpLMD|5578	OMIM|176960
oRG	COG4	0.284316107	0.000843893	Transport/cargo protein	BrainSpLMD|25839	OMIM|606976;HPO|25839|Absent speech, Ataxia, Autosomal recessive inheritance, Cerebral atrophy, Elevated alkaline phosphatase, Elevated hepatic transaminases, Generalized hypotonia, Irritability, Muscular hypotonia of the trunk, Recurrent respiratory infections
oRG	TFG	0.313133522	0.00084508	Enzyme regulator	BrainSpLMD|10342	OMIM|602498;COSMIC||papillary thyroid, ALCL, NSCLC, extraskeletal myxoid chondrosarcoma;HPO|10342|Abnormal myelination, Abnormality of peripheral nerve conduction, Abnormality of the Achilles tendon, Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Difficulty climbing stairs, Difficulty standing, Distal lower limb amyotrophy, Distal sensory impairment, Fasciculations, Gait disturbance, Gliosis, Hyperlipidemia, Hyperreflexia, Inability to walk, Mildly elevated creatine phosphokinase, Motor polyneuropathy, Optic atrophy, Peripheral neuropathy, Proximal amyotrophy, Proximal muscle weakness, Sensorimotor neuropathy, Sensory neuropathy, Slow progression, Spastic paraplegia, Tetraplegia, Visual loss
oRG	TTLL5	0.329361636	0.000845176	Unclassified	BrainSpLMD|23093;Eurexp|euxassay_012593|choroid invagination, choroid plexus, roof plate	OMIM|612268;HPO|23093|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal recessive inheritance, Cone/cone-rod dystrophy, Nyctalopia, Photophobia
oRG	EXOSC7	0.572503391	0.000850215	Ribonuclease	BrainSpLMD|23016;Eurexp|euxassay_012334|cortex, incisor, liver, medullary stroma, molar, pancreas, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|606488
oRG	DIS3L	0.67721613	0.00085047	Unclassified	BrainSpLMD|115752	OMIM|614183
oRG	SRBD1	0.980625769	0.000853978	Unclassified	BrainSpLMD|55133;Eurexp|euxassay_009989|olfactory, thymus primordium	
oRG	RP11.1033A18.1	0.408420574	0.000882329			
oRG	GGH	0.338367633	0.000885544	Enzyme: Hydrolase	BrainSpLMD|8836	OMIM|601509
oRG	LPAR2	0.389045246	0.000893352	G protein coupled receptor	BrainSpLMD|9170;Eurexp|euxassay_015522|alar plate, axial muscle, brain, cerebellum, cerebral cortex, dorsal root ganglion, facial VII, ganglion, glossopharyngeal IX, incisor, lateral wall, mantle layer, marginal layer, metanephros, midbrain, oral region, physiological umbilical hernia, rest of alar plate, roof plate, spinal cord, submandibular gland primordium, telencephalon, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|605110
oRG	MTFR1L	0.522735439	0.000896578	Unclassified	BrainSpLMD|56181;Eurexp|euxassay_007068|embryo	
oRG	TMEM55A	0.438576238	0.000913188			
oRG	CTPS2	0.270567262	0.000918039	Enzyme: Synthase;Enzyme: Ligase	BrainSpLMD|56474	OMIM|300380
oRG	CTC.308K20.3	0.417282922	0.000919871			
oRG	AZI2	0.268038446	0.000953977	Unclassified	BrainSpLMD|64343	OMIM|609916
oRG	NRBP1	0.396142979	0.000967507	Adapter molecule	BrainSpLMD|29959	OMIM|606010
oRG	COPS8P2	0.452097497	0.000972751			
oRG	PDCD4	0.277102271	0.000974496	Unclassified	BrainSpLMD|27250;Eurexp|euxassay_010730|epidermis, epithelium, floor plate, floorplate, larynx, olfactory, sternum, thymus primordium, urethra, ventricular layer	OMIM|608610
oRG	MRPS6	0.526473773	0.000976815	Ribosomal subunit	BrainSpLMD|64968;Eurexp|euxassay_000228|choroid plexus, metencephalon, telencephalon	OMIM|611973
oRG	GALT	0.673840974	0.00099436	Enzyme: Nucleotidyltransferase	BrainSpLMD|2592	OMIM|606999;HPO|2592|Abnormal bleeding, Abnormality of the ovary, Aminoaciduria, Autosomal recessive inheritance, Cataract, Cirrhosis, Decreased fertility in females, Decreased liver function, Diarrhea, Failure to thrive, Feeding difficulties, Galactosuria, Hemolytic anemia, Hepatic failure, Hepatomegaly, Hyperchloremic metabolic acidosis, Hypergalactosemia, Hypergonadotropic hypogonadism, Hypoglycemia, Impairment of galactose metabolism, Intellectual disability, Jaundice, Metabolic acidosis, Nausea and vomiting, Osteoporosis, Premature ovarian insufficiency, Speech apraxia, Speech articulation difficulties, Vomiting, Weight loss
oRG	USP4	0.704601845	0.001000717	Ubiquitin proteasome system protein	BrainSpLMD|7375	OMIM|603486
oRG	NSMCE1	0.367885872	0.001007802	Unclassified	BrainSpLMD|197370	OMIM|617263
oRG	RNF216	0.519665666	0.001012749	Ubiquitin proteasome system protein	BrainSpLMD|54476	OMIM|609948;HPO|54476|Abnormal electroretinogram, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the hypothalamus-pituitary axis, Abnormality of the skeletal system, Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Chorioretinal dystrophy, Decreased fertility, Dementia, Dysarthria, Gynecomastia, Hemiplegia/hemiparesis, Hypogonadotrophic hypogonadism, Infertility, Muscular hypotonia, Neurological speech impairment, Nystagmus, Optic atrophy
oRG	MOB4	0.57596308	0.001017543	Unclassified	BrainSpLMD|25843	OMIM|609361
oRG	TMEM184C	0.60095866	0.001018735	Unclassified	BrainSpLMD|55751;Eurexp|euxassay_004841|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, olfactory, spinal cord, trigeminal V, vagus X	OMIM|613937
oRG	H3F3C	0.378816071	0.001050128	Unclassified		OMIM|616134
oRG	PAM	0.257457522	0.001061263	Enzyme: Oxygenase	BrainSpLMD|5066;Eurexp|euxassay_007685|atrium, axial skeleton, dorsal grey horn, dorsal root ganglion, extrinsic ocular muscle, eyelid, floorplate, glossopharyngeal IX, hindgut, incisor, inner ear, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 4 and 5, lip, mandible, mantle layer, maxilla, medulla, midgut, molar, neural retina, oesophagus, palatal shelf, pancreas, skeletal muscle, stomach, thyroid, trachea, trigeminal V, vagus X, ventricle, ventricular layer, vibrissa	OMIM|170270
oRG	ARL2	0.662303447	0.001076957	GTPase		OMIM|601175
oRG	ITPK1	1.124813488	0.001088298	Enzyme: Phosphotransferase	BrainSpLMD|3705;Eurexp|euxassay_007834|dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, mesentery, midgut, trigeminal V, vagus X, vibrissa	OMIM|601838
oRG	RNFT1	0.965814016	0.001098325	Integral membrane protein	BrainSpLMD|51136	OMIM|615172
oRG	MYL12A	0.255992072	0.001101363	Calcium binding protein	BrainSpLMD|10627	
oRG	ERH	0.290938881	0.001106466	Transcription regulatory protein	BrainSpLMD|2079;Eurexp|euxassay_018034|orbito-sphenoid, ventricular layer	OMIM|601191
oRG	WDR54	0.92374832	0.001113496	Unclassified	BrainSpLMD|84058;Eurexp|euxassay_007433|embryo	
oRG	ZMPSTE24	0.299575731	0.001123428	Metallo protease	BrainSpLMD|10269	OMIM|606480;HPO|10269|Abnormal cellular phenotype, Abnormal trabecular bone morphology, Abnormality of the dentition, Abnormality of the fingertips, Abnormality of the neck, Abnormality of the pinna, Absence of pubertal development, Absent eyelashes, Acroosteolysis of distal phalanges (feet), Adrenal hypoplasia, Alopecia, Aminoaciduria, Angina pectoris, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Aplastic clavicles, Arteriosclerosis of small cerebral arteries, Arthrogryposis multiplex congenita, Atrial septal defect, Autosomal recessive inheritance, Bilateral coxa valga, Bird-like facies, Blepharophimosis, Brittle hair, Broad-based gait, Calcinosis, Choanal atresia, Congenital pseudoarthrosis of the clavicle, Convex nasal ridge, Craniofacial disproportion, Cyanosis, Decreased adipose tissue around neck, Decreased calvarial ossification, Decreased fetal movement, Decreased serum estradiol, Decreased skull ossification, Decreased testosterone in males, Delayed cranial suture closure, Delayed eruption of teeth, Dental crowding, Dermal atrophy, Dermal translucency, Downslanted palpebral fissures, Entropion, Epidermal hyperkeratosis, Failure to thrive, Flexion contracture, Generalized hyperkeratosis, Generalized lipodystrophy, Glucose intolerance, Hepatic steatosis, Heterogeneous, High palate, High pitched voice, Hydropic placenta, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypermetropia, Hyperphosphatemia, Hyperpigmentation of the skin, Hypertelorism, Hypertension, Hypodontia, Hypogonadotrophic hypogonadism, Hypohidrosis, Hypoplasia of teeth, Hypoplastic facial bones, Hypoplastic nipples, Hypospadias, Hypotrichosis, Increased anterioposterior diameter of thorax, Infertility, Insulin resistance, Insulin-resistant diabetes mellitus, Intermittent claudication, Intrauterine growth retardation, Joint stiffness, Keratoconjunctivitis sicca, Kyphoscoliosis, Kyphosis, Lack of skin elasticity, Large fontanelles, Lipoatrophy, Loss of facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Loss of truncal subcutaneous adipose tissue, Low-set ears, Macrotia, Metaphyseal widening, Micrognathia, Mottled pigmentation, Multiple joint contractures, Nail dysplasia, Nail dystrophy, Narrow mouth, Narrow nasal ridge, Narrow nasal tip, Nasal speech, Natal tooth, Osteoarthritis, Osteolytic defects of the distal phalanges of the hand, Osteopenia, Osteoporosis, Overtubulated long bones, Ovoid vertebral bodies, Patent ductus arteriosus, Polyhydramnios, Premature birth, Premature coronary artery disease, Premature delivery because of cervical insufficiency or membrane fragility, Premature graying of hair, Premature loss of teeth, Premature rupture of membranes, Progeroid facial appearance, Progressive clavicular acroosteolysis, Prolonged prothrombin time, Prominent forehead, Prominent scalp veins, Prominent superficial blood vessels, Proptosis, Pulmonary hypoplasia, Reticulated skin pigmentation, Rocker bottom foot, Scaling skin, Sensorineural hearing impairment, Short clavicles, Short distal phalanx of finger, Short nail, Short nose, Short palpebral fissure, Short phalanx of finger, Short stature, Short umbilical cord, Skin erosion, Small placenta, Sparse and thin eyebrow, Sparse eyebrow, Sparse eyelashes, Sparse hair, Sparse or absent eyelashes, Stiff skin, Stillbirth, Structural foot deformity, Submucous cleft hard palate, Tapering pointed ends of distal finger phalanges, Telecanthus, Temporomandibular joint ankylosis, Thin bony cortex, Thin clavicles, Thin nail, Thin ribs, Thin skin, Thin vermilion border, Thrombocytosis, Ureteral duplication, Widely patent fontanelles and sutures, Wormian bones
oRG	PIGS	1.117568161	0.001135941	Anchor protein	BrainSpLMD|94005	OMIM|610271
oRG	KIAA1683	1.269557282	0.001162799			
oRG	PER2	0.260174668	0.001188821	DNA binding protein	BrainSpLMD|8864;Eurexp|euxassay_019474|adrenal gland, larynx, lung, metanephros, olfactory, pancreas, rectum, stomach, testis, thyroid, trachea, urethra, ventricular layer;BrainSpMouseDev|18393	SFARI||Autism, 3 - Suggestive evidence;OMIM|603426;HPO|8864|Autosomal dominant inheritance, Depressivity, Sleep-wake cycle disturbance
oRG	UCP2	0.409171219	0.001201715	Transport/cargo protein	BrainSpLMD|7351;Eurexp|euxassay_010584|liver, olfactory, vibrissa, vomeronasal organ	OMIM|601693;HPO|7351|Abnormality of fatty-acid metabolism, Coma, Diarrhea, Hepatomegaly, Hyperhidrosis, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Neonatal hypoglycemia, Pallor, Pancreatic islet-cell hyperplasia, Progressive neurologic deterioration, Tachycardia, Vomiting
oRG	SEC24B	0.852323132	0.001203346	Transport/cargo protein	BrainSpLMD|10427	OMIM|607184
oRG	LDLRAD3	0.852172755	0.00121497	Unclassified	BrainSpLMD|143458;Eurexp|euxassay_011393|dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, stomach, trigeminal V, vagus X, vestibulocochlear VIII	
oRG	CDC42EP4	0.814608191	0.001221375	Cytoskeletal protein	BrainSpLMD|23580;Eurexp|euxassay_003531|left lung, right lung, ventricular layer, vibrissa	OMIM|605468
oRG	CTD.2031P19.4	0.269933175	0.001221584			
oRG	UBA3	0.266161727	0.001225184	Ubiquitin proteasome system protein	BrainSpLMD|9039	OMIM|603172
oRG	TTC9	0.515979053	0.001240314	Unclassified		OMIM|610488
oRG	DCAF5	0.291803287	0.001244494	Unclassified	BrainSpLMD|8816	OMIM|603812
oRG	CDKN1B	0.52096361	0.00126121	Cell cycle control protein	BrainSpLMD|1027;Eurexp|euxassay_011991|spleen primordium	SFARI||Autism, No category;OMIM|600778;COSMIC||breast, small intestine neuroendocrine tumours, pituitary, parathyroid;HPO|1027|Adrenocortical adenoma, Angiofibromas, Autosomal dominant inheritance, Carcinoid tumor, Diarrhea, Elevated circulating parathyroid hormone level, Episodic abdominal pain, Esophagitis, Fasting hyperinsulinemia, Growth hormone excess, Hypercalcemia, Hyperinsulinemic hypoglycemia, Hyperparathyroidism, Insulinoma, Parathyroid adenoma, Parathyroid hyperplasia, Peptic ulcer, Pituitary adenoma, Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary prolactin cell adenoma, Pulmonary carcinoid tumor, Renal angiomyolipoma, Subcutaneous lipoma, Thyroid adenoma, Zollinger-Ellison syndrome
oRG	TMEM179B	0.906375093	0.001267997	Integral membrane protein	BrainSpLMD|374395	
oRG	TKT	1.056673641	0.001277824	Enzyme: Transketolase	BrainSpLMD|7086	OMIM|606781;HPO|7086|Autosomal recessive inheritance, Intellectual disability, Patent ductus arteriosus, Patent foramen ovale, Proportionate short stature, Self-injurious behavior, Stereotypy, Ventricular septal defect
oRG	GAREM	0.482180621	0.001284823			
oRG	IFT57	0.694234224	0.001294779	Unclassified	BrainSpLMD|55081	OMIM|606621
oRG	IARS	0.255132924	0.001295774	Enzyme: Ligase	BrainSpLMD|3376;Eurexp|euxassay_001939|Meckel's cartilage, cervical, cervico-thoracic, cortex, dorsal root ganglion, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	OMIM|600709;HPO|3376|Autosomal recessive inheritance, Congenital onset, Failure to thrive, Generalized hypotonia, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Microcephaly, Postnatal growth retardation, Variable expressivity
oRG	FN3KRP	0.859029635	0.001296286	Enzyme: Phosphotransferase	BrainSpLMD|79672;Eurexp|euxassay_012737|liver	OMIM|611683
oRG	SPG7	0.728554999	0.001301003	Metallo protease	BrainSpLMD|6687	OMIM|602783;HPO|6687|Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Cerebellar atrophy, Cerebral cortical atrophy, Degeneration of the lateral corticospinal tracts, Dysarthria, Dysphagia, Gait ataxia, Hyperreflexia, Impaired vibration sensation in the lower limbs, Lower limb muscle weakness, Lower limb spasticity, Memory impairment, Nystagmus, Optic atrophy, Pes cavus, Scoliosis, Spastic gait, Spastic paraplegia, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
oRG	PSMD5.AS1	0.963481825	0.00131824			
oRG	TMEM18	0.554645342	0.001391621	Integral membrane protein	BrainSpLMD|129787;Eurexp|euxassay_003177|lower jaw, submandibular gland primordium	OMIM|613220
oRG	KCNT2	0.253007281	0.001396217	Ion channel	BrainSpLMD|343450	OMIM|610044
oRG	LIX1	1.2845005	0.001404147	Unclassified	BrainSpLMD|167410	OMIM|610466
oRG	RP13.383K5.4	0.395054598	0.001418029			
oRG	PSMG2	0.251374277	0.001434242	Cell cycle control protein	BrainSpLMD|56984	OMIM|609702
oRG	ZYX	0.288365052	0.001457477	Adhesion molecule	BrainSpLMD|7791;Eurexp|euxassay_010280|lobe, mesenchyme, skeletal muscle, vertebral axis muscle system	OMIM|602002
oRG	SLC15A4	0.606809879	0.001461444	Membrane transport protein	BrainSpLMD|121260	OMIM|615806
oRG	FNTA	0.480576563	0.001464992	Enzyme: Transferase	BrainSpLMD|2339	OMIM|134635
oRG	TMTC4	0.882740017	0.001472741	Integral membrane protein	BrainSpLMD|84899;Eurexp|euxassay_007002|embryo	
oRG	TBC1D15	0.39284271	0.001486737	GTPase activating protein	BrainSpLMD|64786	OMIM|612662
oRG	SUCLA2	0.263220936	0.001499894	Enzyme: Synthase	BrainSpLMD|8803;Eurexp|euxassay_018605|dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, right lung, trigeminal V, vagus X	OMIM|603921;HPO|8803|Abnormal electroretinogram, Abnormality of the basal ganglia, Abnormality of visual evoked potentials, Aminoaciduria, Ataxia, Athetosis, Autosomal recessive inheritance, Behavioral abnormality, Cachexia, Cerebral atrophy, Cerebral calcification, Decreased activity of mitochondrial respiratory chain, Decreased nerve conduction velocity, Delayed gross motor development, Dystonia, Elevated serum creatine phosphokinase, Facial diplegia, Failure to thrive, Feeding difficulties in infancy, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hyporeflexia, Infantile onset, Intellectual disability, progressive, Irritability, Lactic acidosis, Loss of ability to walk in early childhood, Methylmalonic acidemia, Methylmalonic aciduria, Microcephaly, Ophthalmoplegia, Peripheral neuropathy, Progressive encephalopathy, Ptosis, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment, Short stature, Skeletal muscle atrophy, Spasticity, Strabismus, Ventriculomegaly, Visual impairment
oRG	GUK1	0.471738392	0.001521311	Enzyme: Phosphotransferase	BrainSpLMD|2987	OMIM|139270
oRG	EMC10	0.710914391	0.001548756	Unclassified	BrainSpLMD|284361	OMIM|614545
oRG	SLC25A26	0.434694128	0.001551537	Membrane transport protein	BrainSpLMD|115286	OMIM|611037;HPO|115286|Abdominal pain, Autosomal recessive inheritance, Congestive heart failure, Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Decreased fetal movement, Fatigue, Global developmental delay, Increased serum lactate, Infantile onset, Muscle weakness, Polyhydramnios, Poor appetite, Ragged-red muscle fibers, Respiratory failure, Severe lactic acidosis, Variable expressivity
oRG	COG2	0.281788443	0.00157077	Structural protein	BrainSpLMD|22796	OMIM|606974;HPO|22796|Autosomal recessive inheritance, Decreased liver function, Decreased serum ceruloplasmin, Diffuse cerebral atrophy, Elevated hepatic transaminases, Generalized tonic seizures, Global developmental delay, Hepatosplenomegaly, Hypocupremia, Hypoplasia of the corpus callosum, Infantile onset, Postnatal microcephaly, Seizures, Small pituitary gland, Spastic tetraplegia
oRG	CACHD1	0.406407083	0.00157276	Voltage gated channel	BrainSpLMD|57685;Eurexp|euxassay_006310|incisor, lung, mantle layer, molar, naris, penis, ventricular layer	
oRG	TBCCD1	0.455872307	0.001579206	Unclassified	BrainSpLMD|55171;Eurexp|euxassay_010772|liver, pancreas	
oRG	RCOR3	0.522311179	0.001585401	DNA binding protein	BrainSpLMD|55758	
oRG	TP53BP2	0.606852249	0.00161169	Cell cycle control protein	BrainSpLMD|7159	OMIM|602143
oRG	TTN.AS1	0.368562768	0.001628508			
oRG	MARS	0.461340851	0.001638565	Enzyme: Ligase	BrainSpLMD|4141	OMIM|156560;HPO|4141|Alveolar proteinosis, Aminoaciduria, Anemia, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Clubbing, Cough, Decreased liver function, Distal sensory impairment, Dyspnea, Elevated hepatic transaminases, Failure to thrive, Foot dorsiflexor weakness, Hepatic steatosis, Hepatomegaly, Hypothyroidism, Interstitial pulmonary abnormality, Peripheral axonal neuropathy, Progressive, Respiratory insufficiency, Slow progression, Steppage gait, Variable expressivity
oRG	DDX58	0.635459113	0.00169984	RNA helicase	BrainSpLMD|23586;Eurexp|euxassay_009569|calyces, olfactory, ovary, stomach, submandibular gland primordium, thymus primordium	OMIM|609631;HPO|23586|Autosomal dominant inheritance, Glaucoma, Hyperkeratosis
oRG	FNDC3B	0.501345836	0.001777415	Integral membrane protein	BrainSpLMD|64778	OMIM|611909
oRG	ERLIN2	0.582277223	0.001792563	Unclassified	BrainSpLMD|11160	OMIM|611605;HPO|11160|Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Absent speech, Autosomal recessive inheritance, Babinski sign, Dysphagia, Gait disturbance, Gait imbalance, High palate, Hyperreflexia, Kyphosis, Loss of speech, Lower limb muscle weakness, Muscle weakness, Pes cavus, Progressive, Pseudobulbar behavioral symptoms, Scoliosis, Skeletal muscle atrophy, Slow progression, Spastic dysarthria, Spastic gait, Spastic paraplegia, Spastic tetraparesis, Strabismus, Upper limb spasticity
oRG	HN1L	0.347131484	0.001799457			
oRG	RHNO1	0.51462368	0.001831565	Unclassified	BrainSpLMD|83695;Eurexp|euxassay_001503|cortex, neural retina, ventricular layer	OMIM|614085
oRG	DNAJC27	0.426058869	0.001848188	GTPase	BrainSpLMD|51277	OMIM|613527
oRG	TSR1	0.46529276	0.001860225	Unclassified	BrainSpLMD|55720	OMIM|611214
oRG	DNASE1	0.508606442	0.001861053	Deoxyribonuclease	BrainSpLMD|1773	OMIM|125505
oRG	CRNKL1	0.314687149	0.001874719	RNA binding protein	BrainSpLMD|51340	OMIM|610952;COSMIC||base cell carcinoma
oRG	C22orf29	0.724818741	0.001916266			
oRG	FAM178A	0.374665226	0.001964174			
oRG	FAM66C	0.317851224	0.001970377			
oRG	PLEKHJ1	1.045144898	0.001971121	Guanine nucleotide exchange factor	BrainSpLMD|55111	
oRG	FBXO32	0.449049224	0.001989128	Ubiquitin proteasome system protein	BrainSpLMD|114907;Eurexp|euxassay_009279|atrium, cochlea, cochlear duct, intermediate grey horn, lip, mesenchyme, oesophagus, olfactory, sublingual gland primordium, ventricular layer, vomeronasal organ	OMIM|606604
oRG	NSD1	0.41213834	0.002048088	Transcription factor	BrainSpLMD|64324;BrainSpMouseDev|17960	SFARI||Autism, No category;OMIM|606681;COSMIC||AML, Sotos Syndrome;HPO|64324|Abnormal glucose tolerance, Abnormality of immune system physiology, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Accelerated skeletal maturation, Adrenocortical carcinoma, Adrenocortical cytomegaly, Advanced eruption of teeth, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Atrial septal defect, Autosomal dominant inheritance, Behavioral abnormality, Broad foot, Broad forehead, Broad thumb, Camptodactyly of finger, Cardiomegaly, Cardiomyopathy, Cavum septum pellucidum, Coarse facial features, Conductive hearing impairment, Cryptorchidism, Dandy-Walker malformation, Deep philtrum, Deep-set nails, Delayed skeletal maturation, Depressed nasal ridge, Diastasis recti, Dolichocephaly, Downslanted palpebral fissures, Enlarged cisterna magna, Enlarged kidney, Expressive language delay, Feeding difficulties in infancy, Fine hair, Frontal bossing, Genu valgum, Global developmental delay, Gonadoblastoma, Hemihypertrophy, Hepatoblastoma, Hepatomegaly, High anterior hairline, High forehead, High palate, High, narrow palate, Hoarse voice, Hypermetropia, Hyperreflexia, Hypertelorism, Hypoglycemia, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Joint laxity, Joint stiffness, Large fontanelles, Large hands, Long foot, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Macrotia, Mandibular prognathia, Microcephaly, Micrognathia, Midface retrusion, Muscular hypotonia, Myopia, Narrow palate, Neonatal hypoglycemia, Neonatal hypotonia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Nystagmus, Obesity, Omphalocele, Otitis media, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Pes planus, Pointed chin, Poor coordination, Posterior helix pit, Precocious puberty, Prominent forehead, Prominent metopic ridge, Prominent occiput, Proptosis, Redundant skin, Renal cortical cysts, Retrognathia, Round face, Scoliosis, Seizures, Short stature, Small nail, Spasticity, Specific learning disability, Sporadic, Strabismus, Tall stature, Thin nail, Ventricular septal defect, Ventriculomegaly, Vesicoureteral reflux
oRG	RP11.282K24.3	0.359624698	0.002094435			
oRG	LMBRD1	0.33808474	0.002109053	Integral membrane protein	BrainSpLMD|55788	OMIM|612625;HPO|55788|Ataxia, Autosomal recessive inheritance, Cystathioninemia, Cystathioninuria, Decreased adenosylcobalamin, Decreased methionine synthase activity, Decreased methylcobalamin, Developmental regression, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Glossitis, High palate, Homocystinuria, Hyperhomocystinemia, Incoordination, Infantile onset, Lethargy, Low-set ears, Megaloblastic anemia, Megaloblastic bone marrow, Methylmalonic acidemia, Methylmalonic aciduria, Microtia, Muscular hypotonia, Neutropenia, Pancytopenia, Psychosis, Seizures, Skin rash, Stomatitis, Thin upper lip vermilion, Thrombocytopenia
oRG	CRK	0.340751343	0.002156222	Adapter molecule	BrainSpLMD|1398	OMIM|164762
oRG	ANKS1B	0.381508009	0.002157159	Transcription regulatory protein	BrainSpLMD|56899	SFARI||Autism, No category;OMIM|607815
oRG	AKAP11	0.492894463	0.002220406	Anchor protein	BrainSpLMD|11215;Eurexp|euxassay_007645|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|604696
oRG	DERA	0.560011594	0.002256074	Enzyme: Lyase	BrainSpLMD|51071	
oRG	HAUS5	0.558962829	0.002284024	Unclassified	BrainSpLMD|23354	OMIM|613432
oRG	HIST1H4J	0.722598513	0.002296295	DNA binding protein		OMIM|602826
oRG	XRRA1	0.461502863	0.002297637	Unclassified	BrainSpLMD|143570	OMIM|609788
oRG	M6PR	1.056041049	0.002326997	Integral membrane protein	BrainSpLMD|4074	OMIM|154540
oRG	MLEC	0.61537141	0.002349596	Unclassified	BrainSpLMD|9761;Eurexp|euxassay_016414|clavicle, lung, mandible, maxilla, orbito-sphenoid, submandibular gland primordium, temporal bone, turbinate	OMIM|613802
oRG	MTMR12	0.462012924	0.002391379	Adapter molecule	BrainSpLMD|54545	OMIM|606501
oRG	RPAP1	0.934531902	0.002418062	Unclassified	BrainSpLMD|26015	OMIM|611475
oRG	ZNF740	1.463729659	0.002431979	DNA binding protein	BrainSpLMD|283337	
oRG	LZTR1	0.794520595	0.002453902	Transcription regulatory protein	BrainSpLMD|8216;Eurexp|euxassay_019520|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42706	SFARI||Autism, 3 - Suggestive evidence;OMIM|600574;COSMIC||glioblastoma, glioblastoma, schwannoma, Noonan syndrome 10;HPO|8216|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of the cardiac septa, Abnormality of the spleen, Abnormality of the sternum, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Autosomal dominant inheritance, Coarctation of aorta, Coarse hair, Cryptorchidism, Cystic hygroma, Delayed skeletal maturation, Downslanted palpebral fissures, Dysarthria, Enlarged thorax, Feeding difficulties in infancy, Hepatomegaly, High forehead, High palate, Hypertelorism, Hypogonadotrophic hypogonadism, Joint hyperflexibility, Low posterior hairline, Low-set, posteriorly rotated ears, Micrognathia, Midface retrusion, Mitral stenosis, Muscle weakness, Muscular hypotonia, Pectus carinatum, Pectus excavatum, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Scoliosis, Short neck, Short stature, Strabismus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Triangular face, Webbed neck, Wide intermamillary distance
oRG	PKN2	0.284431332	0.002468846	Serine/threonine kinase	BrainSpLMD|5586	OMIM|602549
oRG	BRD7	0.496546516	0.00249165	Transcription factor		
oRG	REC8	0.277113483	0.002498124	Cell cycle control protein	BrainSpLMD|9985;Eurexp|euxassay_012260|cochlea, lung, mantle layer, metanephros, olfactory, ovary, pancreas, pituitary, stomach, thyroid, trigeminal V, urethra, ventral grey horn, ventricular layer	OMIM|608193
oRG	STX8	0.259011585	0.002514206	Membrane transport protein	BrainSpLMD|9482	OMIM|604203
oRG	MON1B	0.513048143	0.002545929	Unclassified	BrainSpLMD|22879	OMIM|608954
oRG	PWWP2A	0.487551155	0.002555502	Unclassified		COSMIC||Spitzoid tumour
oRG	HSCB	0.376706225	0.002556366	Chaperone	BrainSpLMD|150274	OMIM|608142
oRG	TBC1D9B	1.204922134	0.002649549	Unclassified	BrainSpLMD|23061	
oRG	UGDH	0.440319782	0.002667707	Enzyme: Dehydrogenase	BrainSpLMD|7358	OMIM|603370
oRG	MRPL18	0.389917277	0.002672549	Ribosomal subunit	BrainSpLMD|29074	OMIM|611831
oRG	TSPAN31	0.475431875	0.002677618	Cell cycle control protein	BrainSpLMD|6302;BrainSpMouseDev|42968	OMIM|181035
oRG	CHURC1	0.445343226	0.002736473	Transcription regulatory protein	BrainSpLMD|91612;Eurexp|euxassay_011573|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|84269	OMIM|608577
oRG	CHN1	0.682327815	0.002752889	GTPase activating protein	BrainSpLMD|1123	OMIM|118423;HPO|1123|Abnormal vertebral segmentation and fusion, Anteverted nares, Autosomal dominant inheritance, Blepharophimosis, Deeply set eye, Duane anomaly, Low posterior hairline, Oculomotor nerve palsy, Sensorineural hearing impairment, Short palpebral fissure, Strabismus
oRG	RELA	0.460355481	0.00276441	Transcription factor	BrainSpLMD|5970;Eurexp|euxassay_000778|axial skeleton, diaphragm, foregut-midgut junction, hindgut, incisor, limb, midgut, molar, nasal capsule, tongue, vertebral axis muscle system, vibrissa;BrainSpMouseDev|19460	OMIM|164014
oRG	DENND6A	0.605424224	0.002823741	Unclassified	BrainSpLMD|201627	
oRG	SETD3	0.597217227	0.002838308	Enzyme: Methyltransferase	BrainSpLMD|84193	OMIM|615671
oRG	IFT46	0.703856338	0.002850412	Unclassified	BrainSpLMD|56912	
oRG	TSEN15	0.54579553	0.002850674	Ribonuclease	BrainSpLMD|116461	OMIM|608756;HPO|116461|Autosomal recessive inheritance, Congenital onset, Generalized hypotonia, Intellectual disability, Progressive microcephaly, Variable expressivity
oRG	EMC7	0.307202067	0.002857535	Unclassified	BrainSpLMD|56851	
oRG	TMCO3	0.929276852	0.002860974	Integral membrane protein	BrainSpLMD|55002;Eurexp|euxassay_002820|basal plate, nucleus pulposus, ventral grey horn, ventricular layer	OMIM|617134
oRG	ACTN4	0.378807706	0.002871819	Cytoskeletal protein	BrainSpLMD|81	SFARI||Autism, No category;OMIM|604638;HPO|81|Anemia, Autosomal dominant inheritance, Edema, Focal segmental glomerulosclerosis, Hyperlipidemia, Hypertension, Hypoalbuminemia, Incomplete penetrance, Proteinuria, Slow progression, Variable expressivity
oRG	AFG3L2	1.029108486	0.002896457	ATPase	BrainSpLMD|10939	OMIM|604581;HPO|10939|Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Cerebellar atrophy, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Dysphagia, Dystonia, Gait ataxia, Gaze-evoked nystagmus, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Increased intramyocellular lipid droplets, Infantile onset, Limb ataxia, Lower limb hyperreflexia, Muscle weakness, Myoclonus, Oculomotor apraxia, Ophthalmoparesis, Progressive, Ptosis, Sensorimotor neuropathy, Skeletal muscle atrophy, Slow progression, Slow saccadic eye movements, Spastic ataxia, Spastic paraparesis, Spasticity, Variable expressivity
oRG	TECR	0.462990539	0.002909031	Enzyme: Reductase	BrainSpLMD|9524;Eurexp|euxassay_004555|cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, marginal layer, neural retina, nucleus pulposus, rib, right lung, stroma, submandibular gland primordium, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610057;HPO|9524|Autosomal recessive inheritance, Delayed speech and language development, Intellectual disability, Narrow palate
oRG	SNUPN	0.537621179	0.002978712	Adapter molecule	BrainSpLMD|10073	OMIM|607902
oRG	CSNK1G3	0.316291628	0.002998403	Serine/threonine kinase	BrainSpLMD|1456	OMIM|604253
oRG	ALDH1L2	0.463899326	0.003010488	Enzyme: Dehydrogenase		OMIM|613584
oRG	BMP2K	0.520980911	0.003106002	Serine/threonine kinase	BrainSpLMD|55589	OMIM|617648
oRG	SERPING1	0.85430286	0.003142551	Protease inhibitor	BrainSpLMD|710	OMIM|606860;HPO|710|Abdominal pain, Abnormality of salivation, Abnormality of the larynx, Angioedema, Autoimmunity, Autosomal dominant inheritance, Dermatographic urticaria, Diarrhea, Dysphagia, Edema of the dorsum of hands, Erythema, Facial edema, Intestinal edema, Laryngeal edema, Limbal edema, Nausea, Paresthesia, Peripheral axonal neuropathy, Pharyngeal edema, Systemic lupus erythematosus, Tongue edema, Vomiting
oRG	AHSA2	0.736810405	0.003146053			
oRG	PDE9A	0.437624178	0.003158951	Enzyme: Phosphodiesterase	BrainSpLMD|5152;Eurexp|euxassay_005191|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, epithelium, glossopharyngeal IX, incisor, limb, lung, mesenchyme, metanephros, midgut, molar, naris, olfactory, oral epithelium, rectum, retina, spinal cord, stomach, submandibular gland primordium, tail, trigeminal V, vestibulocochlear VIII	OMIM|602973
oRG	RANBP17	0.377871376	0.003217268	Transport/cargo protein	BrainSpLMD|64901	SFARI||Autism, 2 - Strong candidate;OMIM|606141
oRG	SNX17	0.75958728	0.003260232	Adapter molecule	BrainSpLMD|9784	OMIM|605963
oRG	GEMIN7	0.313177806	0.003295247	Unclassified	BrainSpLMD|79760	OMIM|607419
oRG	ZNF677	0.534837027	0.003298164	Translation regulatory protein	BrainSpLMD|342926	
oRG	GDPGP1	0.902222555	0.003338539	Unclassified		
oRG	ZMYND11	0.256741259	0.003339115	Transcription regulatory protein	BrainSpLMD|10771	SFARI||Autism, 3 - Suggestive evidence;OMIM|608668;HPO|10771|Abnormal facial shape, Aggressive behavior, Autosomal dominant inheritance, Delayed speech and language development, Global developmental delay, Hypertelorism, Intellectual disability, Intellectual disability, mild, Ptosis, Wide mouth
oRG	FAM92A1P1	0.787200481	0.003376333			
oRG	SDF2	0.384586896	0.003395978	Secreted polypeptide	BrainSpLMD|6388	OMIM|602934
oRG	IMMP1L	0.321721286	0.003441422	Protease	BrainSpLMD|196294	OMIM|612323
oRG	NAE1	0.488902099	0.003471253	Adapter molecule	BrainSpLMD|8883	OMIM|603385
oRG	SLC25A44	0.282978478	0.003476758	Transport/cargo protein	BrainSpLMD|9673	OMIM|610824
oRG	C1orf43	0.547249839	0.003509948	Unclassified	BrainSpLMD|25912	OMIM|617428
oRG	WDFY3	0.459097634	0.003514606	Unclassified	BrainSpLMD|23001;Eurexp|euxassay_010172|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 2 - Strong candidate;OMIM|617485
oRG	RNF185	0.392127316	0.003564196	Unclassified	BrainSpLMD|91445;Eurexp|euxassay_006038|olfactory	
oRG	DPH3	0.286284346	0.003566311	Unclassified	BrainSpLMD|285381	OMIM|608959
oRG	SPIDR	0.758190881	0.00357978	Unclassified		OMIM|615384;HPO|23514|Aplasia/Hypoplasia of the breasts, Aplasia/hypoplasia of the uterus, Decreased fertility, Decreased serum estradiol, Delayed puberty, Delayed skeletal maturation, Gonadal dysgenesis, Increased circulating gonadotropin level, Osteopenia, Osteoporosis of vertebrae, Premature ovarian insufficiency, Primary amenorrhea, Sparse pubic hair, Streak ovary
oRG	7-Mar	0.37494158	0.003626391			
oRG	PPA2	0.654874924	0.003683307	Enzyme: Phosphatase	BrainSpLMD|27068	OMIM|609988;HPO|27068|Autosomal recessive inheritance, Bradycardia, Congestive heart failure, Myocardial fibrosis, Myocarditis
oRG	BCL2L13	0.614619015	0.003790622	Integral membrane protein	BrainSpLMD|23786	
oRG	LRIF1	1.325346001	0.0038002	Unclassified	BrainSpLMD|55791	OMIM|615354
oRG	EFHC1	0.262766791	0.003817964	Unclassified	BrainSpLMD|114327;Eurexp|euxassay_011763|choroid invagination, choroid plexus, epithelium, olfactory, roof plate	OMIM|608815;HPO|114327|Abnormality of eye movement, Abnormality of the mouth, EEG with polyspike wave complexes, Generalized tonic-clonic seizures
oRG	NLGN2	0.296727173	0.003818636	Integral membrane protein	BrainSpLMD|57555	SFARI||Autism, No category;OMIM|606479
oRG	MLF2	0.314584212	0.003824387	Unclassified	BrainSpLMD|8079	OMIM|601401
oRG	PRKAA2	0.293711156	0.00386182	Serine/threonine kinase	BrainSpLMD|5563;Eurexp|euxassay_006001|left lung, right lung, ventricle	OMIM|600497
oRG	PROSC	0.338207634	0.003923817			
oRG	ZNF12	0.633558878	0.003985332	DNA binding protein	BrainSpLMD|7559	OMIM|194536
oRG	SLC25A1	0.886724907	0.00402484	Transport/cargo protein	BrainSpLMD|6576;Eurexp|euxassay_007829|cervical, cervico-thoracic, clavicle, left, loop, mantle layer, right, submandibular gland primordium, thoracic, trigeminal V, ventral grey horn	OMIM|190315;HPO|6576|Autosomal recessive inheritance, Cerebellar hypoplasia, Delayed myelination, Dyspnea, Encephalopathy, Feeding difficulties, Global developmental delay, Irritability, L-2-hydroxyglutaric aciduria, Poor eye contact, Respiratory insufficiency, Seizures, Severe muscular hypotonia, Stridor, Ventriculomegaly
oRG	NUDT9	0.799410558	0.004183347	Enzyme: Phosphatase	BrainSpLMD|53343	OMIM|606022
oRG	TMEM219	0.541968001	0.004238618	Unclassified	BrainSpLMD|124446	
oRG	MTAP	0.545131416	0.004254627	Enzyme: Phosphorylase	BrainSpLMD|4507;Eurexp|euxassay_003372|axial muscle, cranium, incisor, mantle layer, marginal layer, orbito-sphenoid, submandibular gland primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|156540
oRG	NBAS	0.296900864	0.004256036	Unclassified	BrainSpLMD|51594	OMIM|608025;HPO|51594|Autosomal recessive inheritance, Brachycephaly, Brachydactyly, Cutis laxa, Epicanthus, Facial asymmetry, Fine hair, Long face, Long philtrum, Micromelia, Muscular hypotonia, Narrow forehead, Nonprogressive visual loss, Optic atrophy, Postnatal growth retardation, Prominent glabella, Proptosis, Reduced visual acuity, Sandal gap, Short neck, Short stature, Thick eyebrow, Thin vermilion border
oRG	TYW3	0.710988614	0.004281318	Unclassified	BrainSpLMD|127253	OMIM|611245
oRG	ABCF1	0.251032927	0.004444703	Translation regulatory protein	BrainSpLMD|23;Eurexp|euxassay_007589|embryo	OMIM|603429
oRG	PRR13	0.297446322	0.004446543	Unclassified	BrainSpLMD|54458;Eurexp|euxassay_008170|embryo	OMIM|610459
oRG	NELFE	0.376275809	0.004463991	RNA binding protein	BrainSpLMD|7936	OMIM|154040
oRG	METTL4	0.653033595	0.004556557	Enzyme: Methyltransferase	BrainSpLMD|64863	
oRG	SLC30A4	0.402519986	0.004571058	Transport/cargo protein	BrainSpLMD|7782;Eurexp|euxassay_019696|mantle layer	OMIM|602095
oRG	HERC4	0.268396548	0.004575801	Ubiquitin proteasome system protein	BrainSpLMD|26091	OMIM|609248
oRG	IQCG	0.598038353	0.004586348	Unclassified	BrainSpLMD|84223;Eurexp|euxassay_003706|choroid plexus, lateral recess, olfactory, roof plate, ventricular layer	OMIM|612477
oRG	MICU1	0.416329746	0.004674278	Unclassified	BrainSpLMD|10367	OMIM|605084;HPO|10367|Autosomal recessive inheritance, Difficulty running, Difficulty walking, Elevated serum creatine phosphokinase, Motor delay
oRG	DCK	0.593035652	0.004916006	Enzyme: Phosphotransferase	BrainSpLMD|1633	OMIM|125450
oRG	SSH1	0.556879936	0.00495914	Dual specificity phosphatase	BrainSpLMD|54434	OMIM|606778
oRG	SNN	0.532399667	0.005003165	Unclassified	BrainSpLMD|8303	OMIM|603032
oRG	CTC1	0.282812737	0.005027868	Unclassified	BrainSpLMD|80169	OMIM|613129;HPO|80169|Abnormal blistering of the skin, Abnormal pyramidal signs, Abnormality of coagulation, Abnormality of extrapyramidal motor function, Abnormality of female internal genitalia, Abnormality of neutrophils, Abnormality of the fingernails, Abnormality of the pharynx, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Ataxia, Autosomal recessive inheritance, Blindness, Bone marrow hypocellularity, Carious teeth, Cellular immunodeficiency, Cerebral calcification, Dysarthria, Dystonia, Esophageal stenosis, Exudative retinopathy, Genu valgum, Global developmental delay, Hemiplegia, Hyperhidrosis, Hypermelanotic macule, Hypodontia, Hypopigmented skin patches, Infantile onset, Intestinal bleeding, Intrauterine growth retardation, Leukodystrophy, Leukoencephalopathy, Malabsorption, Mental deterioration, Metaphyseal sclerosis, Morphological abnormality of the pyramidal tract, Nail dysplasia, Nail dystrophy, Optic atrophy, Oral leukoplakia, Osteopenia, Osteoporosis, Pathologic fracture, Periodontitis, Phenotypic variability, Postnatal growth retardation, Progressive, Recurrent fractures, Recurrent respiratory infections, Retinal telangiectasia, Rough bone trabeculation, Scoliosis, Seizures, Short femoral neck, Short stature, Skin ulcer, Sparse hair, Spasticity, Taurodontia, Telangiectasia of the skin, Thin skin, Thrombocytopenia, Tracheoesophageal fistula, Tremor, Urethral stenosis
oRG	CUL4A	0.946103704	0.005058934	Ubiquitin proteasome system protein	BrainSpLMD|8451	OMIM|603137
oRG	ING3	0.254344174	0.00509474	Cell cycle control protein	BrainSpLMD|54556	OMIM|607493
oRG	GAPDHP1	0.287852869	0.005172451			
oRG	NMRAL1	0.843886231	0.005179504	Unclassified	BrainSpLMD|57407;Eurexp|euxassay_006783|cortex, left lung, marginal layer, metanephros, olfactory lobe, pancreas, right lung, ventricular layer;BrainSpMouseDev|43667	
oRG	DYRK1A	0.578359298	0.005261344	Serine/threonine kinase	BrainSpLMD|1859	SFARI||Autism, 1 - High confidence;OMIM|600855;HPO|1859|Ataxia, Autism, Autosomal dominant inheritance, Bulbous nose, Cerebral cortical atrophy, Deeply set eye, Delayed speech and language development, Failure to thrive in infancy, Febrile seizures, Gait disturbance, Generalized hypotonia, Hallux valgus, Hyperactivity, Hypotelorism, Intellectual disability, severe, Intrauterine growth retardation, Macrotia, Microcephaly, Micrognathia, Narrow forehead, Severe global developmental delay, Small for gestational age, Thickened helices
oRG	DCTN6	0.421159218	0.00526604	Unclassified	BrainSpLMD|10671	OMIM|612963
oRG	GANAB	0.325149536	0.005298548	Enzyme: Hydrolase	BrainSpLMD|23193	OMIM|104160;HPO|23193|Autosomal dominant inheritance, Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia, Variable expressivity
oRG	LINC01278	0.415403874	0.005354807			
oRG	FARSB	0.63546106	0.00535911	Enzyme: Ligase	BrainSpLMD|10056;Eurexp|euxassay_006146|axial muscle, brain, cortex, cranial muscle, dorsal root ganglion, excretory component, glossopharyngeal IX, liver, lung, midgut, olfactory, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|609690
oRG	NDUFS2	0.511001478	0.005366144	Enzyme: Oxidoreductase	BrainSpLMD|4720	OMIM|602985;HPO|4720|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Blurred vision, Central scotoma, Centrocecal scotoma, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Mitochondrial respiratory chain defects, Muscle weakness, Nystagmus, Optic atrophy, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Retinal telangiectasia, Retinal vascular tortuosity, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Slow decrease in visual acuity, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
oRG	SP2	0.348164581	0.005406147	Transcription factor	BrainSpLMD|6668	OMIM|601801
oRG	CEPT1	1.17411308	0.005522508	Enzyme: Phosphotransferase	BrainSpLMD|10390	OMIM|616751
oRG	XRCC6	0.368136966	0.005603773	DNA binding protein	BrainSpLMD|2547;Eurexp|euxassay_003500|axial muscle, left, orbito-sphenoid, pancreas, right, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|152690
oRG	ANKHD1	0.968541275	0.00563021	Unclassified		OMIM|610500
oRG	C7orf55	0.25783491	0.005822149			
oRG	RPP14	0.548965442	0.005874541	Ribonuclease	BrainSpLMD|11102	OMIM|606112
oRG	ACER3	0.408793513	0.0059037	Enzyme: Hydrolase	BrainSpLMD|55331;Eurexp|euxassay_012582|vibrissa	OMIM|617036
oRG	AP2A1	1.403871618	0.00591144	Transport/cargo protein	BrainSpLMD|160;Eurexp|euxassay_012511|dorsal root ganglion, facial VII, glossopharyngeal IX, liver, trigeminal V, vagus X	OMIM|601026
oRG	CAPN7	0.52216024	0.005948634	Cysteine protease	BrainSpLMD|23473	OMIM|606400
oRG	RNU4ATAC	0.83870518	0.00597519			OMIM|601428;HPO|100151683|11 pairs of ribs, Abnormal form of the vertebral bodies, Abnormal vertebral ossification, Abnormality of calcium-phosphate metabolism, Abnormality of the intervertebral disk, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the pinna, Abnormality of the pubic bone, Abnormality of the tragus, Absence seizures, Absent knee epiphyses, Agenesis of cerebellar vermis, Agenesis of corpus callosum, Alopecia, Aplasia/hypoplasia of the femur, Aplastic clavicles, Atrial septal defect, Autosomal recessive inheritance, Biconvex vertebral bodies, Bifid femur, Bifid uvula, Bilateral single transverse palmar creases, Bowed humerus, Brachydactyly, Broad distal phalanx of finger, Bulbous nose, Cleft vertebral arch, Clinodactyly of the 5th finger, Coarctation of aorta, Cryptorchidism, Delayed skeletal maturation, Disproportionate short stature, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Dry skin, Dyspnea, Elbow dislocation, Elbow flexion contracture, Enlarged metaphyses, Eosinophilia, Epileptic spasms, Failure to thrive, Femoral bowing, Generalized hypotonia, Glaucoma, Global developmental delay, Hepatomegaly, Heterotopia, Hip contracture, Hip dislocation, Hydronephrosis, Hydroureter, Hyperkeratosis, Hypoplasia of the frontal lobes, Hypoplastic ilia, Hypotrichosis, Intellectual disability, Intellectual disability, mild, Intrauterine growth retardation, Irregular femoral epiphysis, Irregular vertebral endplates, Knee flexion contracture, Large hands, Large iliac wings, Long clavicles, Long foot, Long nose, Long palpebral fissure, Loss of eyelashes, Low-set ears, Lymphadenopathy, Malar flattening, Microcephaly, Micrognathia, Micromelia, Micropenis, Microtia, Muscle stiffness, Oligohydramnios, Osteomalacia, Osteopenia, Osteoporosis, Pachygyria, Platyspondyly, Posteriorly rotated ears, Premature birth, Prolonged neonatal jaundice, Prominent nose, Prominent occiput, Proptosis, Recurrent otitis media, Recurrent pneumonia, Renal cyst, Renal hypoplasia, Respiratory failure, Retrognathia, Rickets, Rigidity, Seizures, Severe short stature, Short femur, Short humerus, Short metacarpal, Short neck, Short palm, Short stature, Short toe, Shoulder flexion contracture, Single transverse palmar crease, Sloping forehead, Small anterior fontanelle, Sparse and thin eyebrow, Sparse eyelashes, Sparse scalp hair, Spasticity, Specific learning disability, Splenomegaly, Spondyloepiphyseal dysplasia, Status epilepticus, Stillbirth, Submucous cleft hard palate, Tetralogy of Fallot, Thick vermilion border, Thickened nuchal skin fold, Thin eyebrow, Underdeveloped nasal alae
oRG	TGIF2	0.359840051	0.005998407	Transcription factor	BrainSpLMD|60436;Eurexp|euxassay_019508|axial skeleton, cornea, epithelium, incisor, lung, marginal layer, metanephros, molar, neural retina, oesophagus, olfactory, phalanx, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|86790	OMIM|607294
oRG	ZFYVE21	0.528336128	0.006003929	Transport/cargo protein	BrainSpLMD|79038;Eurexp|euxassay_011588|thymus primordium, thyroid	OMIM|613504
oRG	DENR	0.680505285	0.006060862	Unclassified	BrainSpLMD|8562	SFARI||Autism, 3 - Suggestive evidence;OMIM|604550
oRG	LINC00925	0.507501719	0.006061946			
oRG	BPGM	0.864317224	0.006127594	Enzyme: Mutase	BrainSpLMD|669;Eurexp|euxassay_007323|liver	OMIM|613896;HPO|669|Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Cholecystitis, Cholelithiasis, Jaundice, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Splenomegaly
oRG	LAMC1	0.841504684	0.006133945	Extracellular matrix protein	BrainSpLMD|3915	OMIM|150290
oRG	PPP2R2D	0.252057669	0.00615935	Unclassified	BrainSpLMD|55844	OMIM|613992
oRG	PEF1	0.494794932	0.006230164	Calcium binding protein	BrainSpLMD|553115	OMIM|610033
oRG	C5orf24	0.253077337	0.006233599	Unclassified	BrainSpLMD|134553	
oRG	RPS6KA5	0.609954367	0.006335149	Serine/threonine kinase	BrainSpLMD|9252	OMIM|603607
oRG	ENSA	0.48439853	0.006362806	Ligand	BrainSpLMD|2029	OMIM|603061
oRG	TIMM44	0.618086384	0.006364742	Enzyme: Translocase	BrainSpLMD|10469	OMIM|605058
oRG	MED31	0.311752201	0.006401267	Transcription regulatory protein	BrainSpLMD|51003	
oRG	CES2	0.3385055	0.006403514	Enzyme: Esterase	BrainSpLMD|8824;Eurexp|euxassay_013643|dorsal root ganglion, facial VII, glossopharyngeal IX, left, lobe, naris, right, trigeminal V, vagus X	OMIM|605278
oRG	ASCC3	0.967588292	0.006410333	Unclassified	BrainSpLMD|10973	OMIM|614217
oRG	ZNF561	0.261161482	0.006419425	Unclassified	BrainSpLMD|93134	
oRG	SUPT3H	0.388958367	0.00642382	Transcription factor	BrainSpLMD|8464	OMIM|602947
oRG	RP11.386J22.3	0.286734934	0.006456154			
oRG	ECHS1	0.501441304	0.006498215	Enzyme: Hydratase	BrainSpLMD|1892;Eurexp|euxassay_018892|adrenal gland, axial muscle, cortex, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|602292;HPO|1892|Apnea, Autosomal recessive inheritance, Dystonia, Generalized hypotonia, Global developmental delay, Increased CSF lactate, Increased serum lactate, Nystagmus, Spasticity
oRG	GABRA2	0.410651689	0.006540513	Ion channel	BrainSpLMD|2555;Eurexp|euxassay_008366|mantle layer, marginal layer;BrainSpMouseDev|14171	OMIM|137140
oRG	KIAA1279	0.294358181	0.00659678			
oRG	HSPA14	0.59463881	0.006617154	Chaperone	BrainSpLMD|51182	OMIM|610369
oRG	MIS18A	0.262865246	0.006640215	Unclassified	BrainSpLMD|54069	
oRG	TTC1	0.401282844	0.00669354	Adapter molecule	BrainSpLMD|7265	OMIM|601963
oRG	NPIPB3	0.378107819	0.006702419	Unclassified	BrainSpLMD|23117	
oRG	DLD	0.323333327	0.006761289	Enzyme: Dehydrogenase	BrainSpLMD|1738	OMIM|238331;HPO|1738|Ataxia, Autosomal recessive inheritance, Dystonia, Elevated hepatic transaminases, Elevated plasma branched chain amino acids, Encephalopathy, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hepatic encephalopathy, Hepatomegaly, Hypercoagulability, Hypertrophic cardiomyopathy, Hypoglycemia, Increased serum lactate, Increased urine alpha-ketoglutarate concentration, Lactic acidosis, Lethargy, Metabolic acidosis, Microcephaly, Neurodevelopmental delay, Seizures, Spasticity, Variable expressivity, Vomiting
oRG	E2F3	0.312887447	0.006769842	Transcription factor	BrainSpLMD|1871;BrainSpMouseDev|13336	OMIM|600427
oRG	OAZ2	0.400309548	0.006865407	Regulatory/other subunit	BrainSpLMD|4947	OMIM|604152
oRG	ITFG1	0.399316439	0.006866543	Integral membrane protein	BrainSpLMD|81533;Eurexp|euxassay_011448|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611803
oRG	ZNHIT6	0.729977096	0.006888218	Unclassified	BrainSpLMD|54680	
oRG	SMG9	0.342943779	0.006902803	Unclassified	BrainSpLMD|56006	OMIM|613176;HPO|56006|Abnormality of the pinna, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Camptodactyly of finger, Cerebral atrophy, Cleft lip, Dandy-Walker malformation, Delayed CNS myelination, Depressed nasal bridge, Everted lower lip vermilion, Gastroesophageal reflux, Generalized hypotonia, Global brain atrophy, Global developmental delay, Growth delay, Hand clenching, High, narrow palate, Hyperactive deep tendon reflexes, Hypertelorism, Hypoplasia of the corpus callosum, Interrupted aortic arch, Low-set ears, Microcephaly, Microphthalmia, Muscular hypotonia of the trunk, Narrow forehead, Polyhydramnios, Poor eye contact, Posteriorly rotated ears, Prominent forehead, Prominent metopic ridge, Prominent occiput, Thick lower lip vermilion, Ventricular septal defect, Visual impairment, Wide anterior fontanel, Wide nasal bridge
oRG	WDR60	0.416579213	0.007089268	Unclassified	BrainSpLMD|55112;Eurexp|euxassay_012520|mandible, maxilla, olfactory, orbito-sphenoid	OMIM|615462;HPO|55112|Abdominal distention, Abnormal pelvis bone ossification, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Absent or minimally ossified vertebral bodies, Acetabular spurs, Ambiguous genitalia, Autosomal recessive inheritance, Brachydactyly, Cleft upper lip, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Failure to thrive, Femoral bowing, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypoplasia of penis, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Narrow chest, Pancreatic fibrosis, Polyhydramnios, Postaxial hand polydactyly, Postaxial polydactyly, Preaxial polydactyly, Pulmonary hypoplasia, Renal hypoplasia, Respiratory insufficiency, Short foot, Short long bone, Short palm, Short ribs, Short stature, Short thorax, Skeletal dysplasia, Syndactyly, Thoracic dysplasia, Urethrovaginal fistula, Uterus didelphys, Ventricular septal defect, Wide nose
oRG	TMEM168	0.497174509	0.007101544	Unclassified	BrainSpLMD|64418;Eurexp|euxassay_008135|ventricle	
oRG	NEDD1	0.398274934	0.007207532	Unclassified	BrainSpLMD|121441;Eurexp|euxassay_017529|ventricular layer	OMIM|600372
oRG	LZIC	0.319261419	0.007240556	Unclassified	BrainSpLMD|84328	OMIM|610458
oRG	NEK9	0.357351711	0.007425279	Serine/threonine kinase;Cell cycle control protein	BrainSpLMD|91754	OMIM|609798;HPO|91754|Adducted thumb, Arthrogryposis multiplex congenita, Asthma, Atopic dermatitis, Atrial septal defect, Autosomal recessive inheritance, Camptodactyly, Cardiomegaly, Comedo, Fetal akinesia sequence, Full cheeks, Hamartoma, High palate, Hydrops fetalis, Hypoplasia of the thymus, Intrauterine growth retardation, Long philtrum, Micrognathia, Narrow palate, Oligohydramnios, Overlapping fingers, Overlapping toe, Overriding aorta, Pulmonary hypoplasia, Pulmonic stenosis, Pyloric stenosis, Short neck, Somatic mutation, Stiff neck, Talipes equinovarus, Thoracic scoliosis, Ventricular septal defect
oRG	VWA9	0.380150872	0.007462465			
oRG	TMED9	0.340045447	0.007546228	Unclassified		
oRG	CYFIP1	0.294433626	0.00790252	Unclassified	BrainSpLMD|23191;Eurexp|euxassay_000633|incisor	SFARI||Autism, No category;OMIM|606322
oRG	SCO1	0.93795233	0.007923105	Unclassified	BrainSpLMD|6341;Eurexp|euxassay_014186|submandibular gland primordium	OMIM|603644;HPO|6341|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
oRG	DIRC2	0.837028716	0.008488552	Membrane transport protein	BrainSpLMD|84925	OMIM|602773;HPO|84925|Renal cell carcinoma, Sporadic
oRG	PPP4C	0.503670316	0.008687217	Serine/threonine phosphatase	BrainSpLMD|5531;Eurexp|euxassay_004804|thymus primordium, ventricular layer	OMIM|602035
oRG	NDUFA10	0.297141708	0.008739546	Enzyme: Oxidoreductase	BrainSpLMD|4705	OMIM|603835;HPO|4705|Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
oRG	GCFC2	0.624149073	0.00874864	Transcription factor	BrainSpLMD|6936	OMIM|189901
oRG	VOPP1	0.87149605	0.009007139	Transcription regulatory protein	BrainSpLMD|81552;Eurexp|euxassay_012572|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611915
oRG	LLNLF.187D8.1	0.353124369	0.00901473			
oRG	BLVRA	0.351586756	0.009208224	Enzyme: Oxidoreductase	BrainSpLMD|644	OMIM|109750;HPO|644|Autosomal dominant inheritance, Autosomal recessive inheritance, Cholelithiasis, Cholestasis, Decreased liver function
oRG	PCCB	0.537412922	0.009359138	Enzyme: Carboxylase	BrainSpLMD|5096	SFARI||Autism, No category;OMIM|232050;HPO|5096|Abnormality of immune system physiology, Acute encephalopathy, Anemia, Apnea, Arrhythmia, Autosomal recessive inheritance, Cardiomyopathy, Cerebral atrophy, Coma, Constipation, Dehydration, Dystonia, Eczema, Failure to thrive, Feeding difficulties in infancy, Global developmental delay, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Hyperglycinuria, Hypoglycemia, Intellectual disability, Lactic acidosis, Lethargy, Limb hypertonia, Metabolic acidosis, Muscular hypotonia of the trunk, Neutropenia, Organic aciduria, Osteoporosis, Pancreatitis, Pancytopenia, Poor appetite, Propionyl-CoA carboxylase deficiency, Seizures, Short stature, Tachypnea, Thrombocytopenia, Vomiting
oRG	LINC00888	0.253742166	0.009442567			
oRG	RAP1A	0.260941124	0.009450145	GTPase	BrainSpLMD|5906	OMIM|179520;HPO|5906|Abnormal dermatoglyphics, Abnormality of the cardiac septa, Butterfly vertebrae, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Conductive hearing impairment, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Hemivertebrae, High palate, Highly arched eyebrow, Hydrocephalus, Hypodontia, Joint hyperflexibility, Long eyelashes, Macrotia, Microcephaly, Microdontia, Muscular hypotonia, Protruding ear, Ptosis, Recurrent infections, Scoliosis, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Sparse lateral eyebrow, Strabismus, Ventriculomegaly, Widely spaced teeth
oRG	CNRIP1	0.818103836	0.009485837	Unclassified	BrainSpLMD|25927	
oRG	ZNF234	0.466052967	0.009505917	Transcription factor	BrainSpLMD|10780	OMIM|604750
oRG	DHX9	0.316758249	0.009509326	Transcription factor	BrainSpLMD|1660;Eurexp|euxassay_010959|brain, cochlea, epithelium, facial VII, glossopharyngeal IX, incisor, left lung, marginal layer, metanephros, midgut, molar, olfactory, pancreas, pharyngo-tympanic tube, retina, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, utricle, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|603115
oRG	SEC23IP	0.699485271	0.009565072	Transport/cargo protein	BrainSpLMD|11196	
oRG	USP40	0.699421263	0.009646021	Ubiquitin proteasome system protein		OMIM|610570
oRG	UQCRC1	0.630649444	0.009697515	Enzyme: Reductase	BrainSpLMD|7384;Eurexp|euxassay_018647|axial muscle, bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, mantle layer, metanephros, right lung, submandibular gland primordium, trigeminal V, vagus X, ventral grey horn, vibrissa	OMIM|191328
oRG	ZCCHC17	0.3538111	0.009769406	RNA binding protein	BrainSpLMD|51538	
oRG	RFX2	0.336986292	0.009808451	DNA binding protein	BrainSpLMD|5990;Eurexp|euxassay_019670|floorplate, lobe, olfactory, ventricular layer;BrainSpMouseDev|19488	OMIM|142765
oRG	TRAPPC12	0.512368479	0.009851966	Unclassified	BrainSpLMD|51112	OMIM|614139
oRG	WIPI2	0.2801351	0.009876702	Unclassified	BrainSpLMD|26100;Eurexp|euxassay_003259|dorsal root ganglion, epidermal component, facial VII, inferior, submandibular gland primordium, superior, trigeminal V, vagus X, ventricular layer	OMIM|609225
oRG	RP11.175I17.2	0.437417822	0.009879866			
tRG	CRYAB	4.173993786	0	Heat shock protein	Eurexp|euxassay_009877|diaphragm, forelimb, hindlimb, mesenchyme, skeletal muscle, ventricle, vertebral axis muscle system	OMIM|123590;HPO|1410|Adult onset, Apnea, Autophagic vacuoles, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Decreased Achilles reflex, Dilated cardiomyopathy, Distal muscle weakness, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Flexion contracture, Foot dorsiflexor weakness, Hypertrophic cardiomyopathy, Late-onset proximal muscle weakness, Limb-girdle muscle weakness, Mitral regurgitation, Muscle fiber splitting, Muscular dystrophy, Neck muscle weakness, Posterior polar cataract, Rapidly progressive, Respiratory failure, Respiratory insufficiency due to muscle weakness, Rigidity, Slow progression, Weak cry
tRG	FBXO32	2.708631806	0	Ubiquitin proteasome system protein	BrainSpLMD|114907;Eurexp|euxassay_009279|atrium, cochlea, cochlear duct, intermediate grey horn, lip, mesenchyme, oesophagus, olfactory, sublingual gland primordium, ventricular layer, vomeronasal organ	OMIM|606604
tRG	ITGA2	2.687961913	0	Cell surface receptor	BrainSpLMD|3673;Eurexp|euxassay_009582|medulla	OMIM|192974;HPO|3673|Autosomal dominant inheritance, Bruising susceptibility, Congenital onset, Thrombocytopenia
tRG	CTGF	2.669082387	0	Extracellular matrix protein	BrainSpLMD|1490;Eurexp|euxassay_004838|alimentary system, aorta, arch of aorta, axial skeleton, basioccipital bone, basisphenoid bone, bladder, cardiac muscle, carotid artery, cartilage, clavicle, cortex, cricoid, descending, dorsal aorta, exoccipital bone, fibula, humerus, incisor, laryngeal, larynx, lung, meninges, mesenchyme, metanephros, metatarsus, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, palatal shelf, pelvic girdle, petrous part, phalanx, pharyngo-tympanic tube, pulmonary artery, pulmonary trunk, respiratory tract, rib, scapula, skeletal muscle, skeleton, sternum, stomach, temporal bone, thoracic aorta, thyroid, tibia, trachea, tubo-tympanic recess, turbinate bones, umbilical artery, vault of skull, ventricle, ventricular layer, vomeronasal organ;BrainSpMouseDev|13996	OMIM|121009;HPO|1490|Arthralgia, Arthritis, Autoimmunity, Carious teeth, Dyspareunia, Dysphagia, Dyspnea, Flexion contracture, Gastroesophageal reflux, Hypopigmented skin patches, Malabsorption, Mucosal telangiectasiae, Muscle weakness, Narrow foramen obturatorium, Nausea and vomiting, Oliguria, Osteolysis, Pulmonary fibrosis, Pulmonary infiltrates, Skin ulcer, Telangiectasia of the skin, Xerostomia
tRG	LRP4	2.423373035	0	Cell surface receptor	Eurexp|euxassay_011129|alar columns, epithelium, glomeruli, incisor, mantle layer, molar, olfactory, ventricular layer, vibrissa	OMIM|604270;HPO|4038|2-3 finger syndactyly, Abnormal cortical bone morphology, Abnormality of the nose, Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital onset, Craniofacial hyperostosis, Curved distal phalanges of the hand, Cutaneous finger syndactyly, Diaphyseal thickening, Difficulty walking, Downslanted palpebral fissures, Facial palsy, Feeding difficulties, Fingernail dysplasia, Frontal bossing, Hearing impairment, Hypertelorism, Hypoplasia of the radius, Hypoplasia of the ulna, Hyporeflexia, Increased bone mineral density, Macrocephaly, Mandibular prognathia, Micrognathia, Nail dysplasia, Prominent forehead, Ptosis, Renal agenesis, Renal hypoplasia, Sensorineural hearing impairment, Short finger, Syndactyly, Tall stature
tRG	SAMD4A	2.414061855	0	Unclassified	BrainSpLMD|23034	OMIM|610747
tRG	STOX1	2.339265585	0	DNA binding protein	BrainSpLMD|219736	OMIM|609397;HPO|219736|Eclampsia, Polygenic inheritance, Preeclampsia
tRG	ST5	2.310748658	0	Unclassified	BrainSpLMD|6764	OMIM|140750
tRG	DAOA.AS1_2	2.304945318	0			
tRG	EGR2	2.304054262	0	Transcription factor	BrainSpLMD|1959;Eurexp|euxassay_000939|vibrissa;BrainSpMouseDev|13432	SFARI||Autism, 5 - Hypothesized but untested;OMIM|129010;HPO|1959|Abnormality of the cranial nerves, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital onset, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Generalized hypotonia, Hammertoe, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Increased CSF protein, Infantile onset, Juvenile onset, Kyphoscoliosis, Motor delay, Neonatal hypotonia, Onion bulb formation, Peripheral hypomyelination, Peripheral neuropathy, Pes cavus, Segmental peripheral demyelination/remyelination, Sensory ataxia, Split hand, Steppage gait, Ulnar claw, Upper limb muscle weakness, Variable expressivity
tRG	C8orf4	2.291436009	0			
tRG	GLI3	2.29045033	0	Transcription factor	BrainSpLMD|2737;Eurexp|euxassay_018378|axial skeleton, mesenchyme, phalanx, ventricular layer;BrainSpMouseDev|14410	OMIM|165240;HPO|2737|1-5 toe syndactyly, 3-4 finger syndactyly, Abnormal lung lobation, Abnormality of earlobe, Accelerated skeletal maturation, Anal atresia, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Bifid epiglottis, Broad hallux phalanx, Broad thumb, Cryptorchidism, Dandy-Walker malformation, Decreased circulating cortisol level, Decreased testicular size, Distal shortening of limbs, Distal urethral duplication, Dysplastic distal thumb phalanges with a central hole, Ectopic kidney, Esophageal atresia, Finger syndactyly, Frontal bossing, Growth hormone deficiency, High forehead, Hip dislocation, Holoprosencephaly, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplasia of the epiglottis, Intellectual disability, severe, Intrauterine growth retardation, Laryngeal cleft, Macrocephaly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Micropenis, Nail dysplasia, Neonatal death, Panhypopituitarism, Postaxial foot polydactyly, Postaxial hand polydactyly, Preaxial foot polydactyly, Preaxial polydactyly, Precocious puberty, Preductal coarctation of the aorta, Prominent occiput, Radial head subluxation, Renal cyst, Renal dysplasia, Renal hypoplasia, Scaphocephaly, Seizures, Short nose, Short stature, Sloping forehead, Telecanthus, Thyroid dysgenesis, Toe syndactyly, Tracheoesophageal fistula, Trigonocephaly, Triphalangeal thumb, Variable expressivity, Ventricular septal defect, Wide nasal bridge
tRG	ANGPTL1	2.286022482	0	Secreted polypeptide	BrainSpLMD|9068;Eurexp|euxassay_011312|axial skeleton, basioccipital bone, basisphenoid bone, cartilaginous ring, diaphragm, greater sac, handplate, mesenchyme, midgut, naris, oesophagus, orbito-sphenoid, otic capsule, peritoneal cavity, rectum, rib, skeletal muscle, sternum, turbinate bones, valve;BrainSpMouseDev|48554	OMIM|603874
tRG	TAGLN2	2.259680555	0	Unclassified	BrainSpLMD|8407;Eurexp|euxassay_001884|ventricular layer;BrainSpMouseDev|21107	OMIM|604634
tRG	CYR61	2.256352963	0	Extracellular matrix protein	BrainSpLMD|3491;BrainSpMouseDev|15780	OMIM|602369
tRG	FAM182B	2.246181486	0			
tRG	VAT1L	2.243936605	0	Unclassified	BrainSpLMD|57687;Eurexp|euxassay_004685|adenohypophysis, body-wall mesenchyme, cervical, cervico-thoracic, choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, lateral recess, mantle layer, marginal layer, mesenchyme, thoracic, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|92920	
tRG	ANKFN1	2.243260858	0	Unclassified	BrainSpLMD|162282	
tRG	FAM84B	2.230959581	0	Unclassified	BrainSpLMD|157638;Eurexp|euxassay_012212|choroid plexus, fundus, marginal layer, metanephros, molar, stomach, submandibular gland primordium, vibrissa	OMIM|609483
tRG	GRIN2A	2.218413676	0	Extracellular ligand gated channel	BrainSpLMD|2903;Eurexp|euxassay_016594|extrinsic ocular muscle, mantle layer, mesenchyme, phalanx, skeletal muscle, ventral grey horn;BrainSpMouseDev|14587	SFARI||Autism, 4 - Minimal evidence;OMIM|138253;COSMIC||melanoma, colorectal carcinoma, gastric carcinoma, lung carcinoma, Focal epilepsy and speech disorder with or without mental retardation;HPO|2903|Agnosia, Aphasia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Delayed speech and language development, Dysphasia, EEG with centrotemporal focal spike waves, Incomplete penetrance, Seizures, Speech apraxia, Variable expressivity
tRG	TFAP2C	2.179629029	0	Transcription factor	BrainSpLMD|7022;BrainSpMouseDev|21181	OMIM|601602
tRG	EGFR	2.162683728	0	Receptor tyrosine kinase	BrainSpLMD|1956;Eurexp|euxassay_002564|axial skeleton, cervical region, diaphragm, epidermis, intermediate grey horn, lumbar region, mandible, mantle layer, maxilla, mesenchyme, nasal septum, phalanx, pharyngo-tympanic tube, primary palate, rib, sacral region, thoracic region, trachea, turbinate bones, upper arm, ventricular layer, vibrissa;BrainSpMouseDev|13427	OMIM|131550;COSMIC||glioma, NSCLC, NSCLC;HPO|1956|Alveolar cell carcinoma, Autosomal recessive inheritance, Epidermal acanthosis, Failure to thrive, Hypertension, Long eyelashes, Papule, Pustule, Recurrent bronchiolitis, Recurrent pneumonia, Vomiting
tRG	LTBP1	2.152928777	0	Extracellular matrix protein	BrainSpLMD|4052	OMIM|150390
tRG	GPX3	2.150941909	0	Enzyme: Peroxidase	BrainSpLMD|2878;Eurexp|euxassay_003296|foregut-midgut junction, hindgut, incisor, left atrium, midgut, right atrium, stomach;BrainSpMouseDev|14554	OMIM|138321
tRG	LIPG	2.143148151	0	Enzyme: Lipase	BrainSpLMD|9388;Eurexp|euxassay_018714|4th ventricle, incisor, larynx, lung, metanephros, midgut, molar, naris, nasal septum, olfactory, rectum, respiratory, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|603684
tRG	PPARGC1A	2.132108201	0	Transcription regulatory protein	BrainSpLMD|10891;Eurexp|euxassay_006699|anterior, calyces, dorsal root ganglion, external, facial VII, fundus region, incisor, left ventricle, mantle layer, mesenchyme, oral epithelium, posterior, right ventricle, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|18780	OMIM|604517;HPO|10891|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
tRG	HES1	2.130942273	0	Transcription factor	BrainSpLMD|3280;Eurexp|euxassay_019489|epithelium, floor plate, floorplate, hindgut, incisor, larynx, lung, metanephros, metatarsus, midgut, molar, neural retina, oesophagus, olfactory, oral epithelium, pancreas, phalanx, pharyngo-tympanic tube, skeleton, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|14981	OMIM|139605
tRG	MEGF10	2.118974253	0	Structural protein	BrainSpLMD|84466	SFARI||Autism, 4 - Minimal evidence;OMIM|612453;HPO|84466|Areflexia, Autosomal recessive inheritance, Camptodactyly of finger, Cleft palate, Congenital onset, Decreased fetal movement, Diaphragmatic paralysis, Difficulty running, Dysphagia, Facial palsy, Failure to thrive, High palate, Hyporeflexia, Motor delay, Nasal speech, Neonatal hypotonia, Pectus excavatum, Poor head control, Respiratory distress, Respiratory failure, Restrictive ventilatory defect, Scoliosis, Talipes equinovarus, Variable expressivity
tRG	GFAP	2.097445914	0	Structural protein	BrainSpLMD|2670;BrainSpMouseDev|14356	OMIM|137780;HPO|2670|Ataxia, Autosomal dominant inheritance, Bulbar signs, Developmental regression, Diffuse demyelination of the cerebral white matter, Hydrocephalus, Increased CSF protein, Infantile onset, Progressive macrocephaly, Seizures, Spasticity
tRG	S1PR3	2.069017403	0	G protein coupled receptor		OMIM|601965
tRG	MCAM	2.026172269	0	Adhesion molecule	BrainSpLMD|4162	OMIM|155735
tRG	CLU	2.022370277	0	Complement protein	BrainSpLMD|1191;BrainSpMouseDev|12543	OMIM|185430
tRG	Z83001.1	2.019174204	0			
tRG	PLCH1	2.004810544	0	Unclassified	BrainSpMouseDev|92752	OMIM|612835
tRG	RP11.76I14.1	1.999620269	0			
tRG	BOC	1.993892362	0	Cell surface receptor	BrainSpLMD|91653;Eurexp|euxassay_005272|intermediate grey horn, mantle layer, marginal layer, mesenchyme, trachea, ventricular layer;BrainSpMouseDev|78669	OMIM|608708
tRG	FZD8	1.95635284	0	G protein coupled receptor	BrainSpLMD|8325;BrainSpMouseDev|14146	OMIM|606146
tRG	ITGB8	1.953889414	0	Cell surface receptor	BrainSpLMD|3696;Eurexp|euxassay_011385|axial skeleton, brachial plexus, nasal cavity, optic chiasma, optic nerve, phalanx, submandibular gland primordium, testis, valve, ventricular layer, vibrissa;BrainSpMouseDev|107845	OMIM|604160
tRG	PCGF5	1.940876166	0	Ubiquitin proteasome system protein	BrainSpLMD|84333	OMIM|617407
tRG	COL4A6	1.934989794	0	Extracellular matrix protein	BrainSpLMD|1288;Eurexp|euxassay_009999|associated mesenchyme, basioccipital bone, clavicle, femur, fibula, humerus, lens, mandible, maxilla, meninges, nasal septum, orbito-sphenoid, otic capsule, petrous part, phalanx, renal/urinary system, rib, submandibular gland primordium, tibia, trunk mesenchyme, turbinate bones, vault of skull	OMIM|303631;HPO|1288|Cochlear malformation, Hearing impairment, X-linked recessive inheritance
tRG	HEATR5A	1.932772228	0	Unclassified	BrainSpLMD|25938;Eurexp|euxassay_011074|glossopharyngeal IX, mantle layer, neural retina, trigeminal V, ventricle	
tRG	PARD3B	1.927392963	0	Unclassified	BrainSpLMD|117583;Eurexp|euxassay_009412|olfactory, ventricular layer, vomeronasal organ	SFARI||Autism, 3 - Suggestive evidence
tRG	PAWR	1.926130184	0	Transcription regulatory protein	BrainSpLMD|5074;Eurexp|euxassay_014184|bladder, floor plate, floorplate, left lung, neural retina, olfactory, right lung, submandibular gland primordium, urethra, ventricular layer;BrainSpMouseDev|77498	OMIM|601936
tRG	EGR1	1.922160094	0	Transcription factor	BrainSpLMD|1958;Eurexp|euxassay_008911|mesenchyme;BrainSpMouseDev|13431	OMIM|128990
tRG	CREB5	1.919186653	0	Transcription factor	BrainSpLMD|9586;Eurexp|euxassay_016386|axial skeleton, oral epithelium	
tRG	EVA1C	1.911306761	0	Integral membrane protein	BrainSpLMD|59271;Eurexp|euxassay_007192|cochlea, ventricular layer	
tRG	LRRC3B	1.90389987	0	Unclassified	BrainSpLMD|116135	
tRG	ARC	1.896076632	0	Cytoskeletal associated protein	BrainSpMouseDev|11625	OMIM|612461
tRG	MAFF	1.890940683	0	Transcription factor	BrainSpLMD|23764	OMIM|604877
tRG	MAST4	1.872383712	0	Unclassified	BrainSpLMD|375449;Eurexp|euxassay_011099|mantle layer, marginal layer, thymus primordium, ventral grey horn	
tRG	SHROOM3	1.852304173	0	Adapter molecule	BrainSpLMD|57619;Eurexp|euxassay_012216|cortex, midgut, olfactory, ventricular layer, vertebral axis muscle system	OMIM|604570
tRG	LRIG3	1.843333027	0	Unclassified	BrainSpLMD|121227	OMIM|608870;COSMIC||NSCLC
tRG	MOXD1	1.840884569	0	Enzyme: Oxygenase	BrainSpLMD|26002	OMIM|609000
tRG	GPR98	1.82351403	0			
tRG	GULP1	1.80570604	0	Adapter molecule	BrainSpLMD|51454	OMIM|608165
tRG	AJUBA	1.800458174	0	Cell cycle control protein	BrainSpLMD|84962	OMIM|609066
tRG	PAX6	1.780504828	0	Transcription factor	BrainSpLMD|5080;BrainSpMouseDev|18274	SFARI||Autism, No category;OMIM|607108;HPO|5080|Abnormal best corrected visual acuity test, Abnormality of movement, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the vagina, Abnormality of vision, Amblyopia, Aniridia, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the macula, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Cerebellar hypoplasia, Chorioretinal coloboma, Congenital glaucoma, Congenital nystagmus, Contiguous gene syndrome, Corneal opacity, Cryptorchidism, Displacement of the external urethral meatus, EEG abnormality, Everted lower lip vermilion, Generalized hyperpigmentation, Glaucoma, Global developmental delay, Hearing abnormality, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Hypoplasia of the iris, Hypospadias, Intellectual disability, Keratitis, Mask-like facies, Microcephaly, Micrognathia, Motor delay, Muscular hypotonia, Nephroblastoma, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Optic disc hypoplasia, Optic nerve aplasia, Optic nerve coloboma, Optic nerve hypoplasia, Peripheral vitreous opacities, Peters anomaly, Postural tremor, Presenile cataracts, Pseudopapilledema, Ptosis, Reduced visual acuity, Retinal detachment, Scanning speech, Short stature, Slurred speech, Somatic mutation, Strabismus, Streak ovary, Visual impairment, Visual loss
tRG	PDLIM3	1.779413642	0	Unclassified	BrainSpLMD|27295	OMIM|605889
tRG	PSAT1	1.76904924	0	Enzyme: Aminotransferase	BrainSpLMD|29968;Eurexp|euxassay_001596|cranium, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|610936;HPO|29968|Abnormality of the philtrum, Abnormality of the pinna, Absent septum pellucidum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Broad foot, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cleft palate, Congenital onset, Dandy-Walker malformation, Decreased fetal movement, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Feeding difficulties in infancy, Global developmental delay, High palate, Hypertelorism, Hypertonia, Hypoglycinemia, Hypogonadism, Hyposerinemia, Ichthyosis, Infantile onset, Intrauterine growth retardation, Lack of skin elasticity, Large hands, Lissencephaly, Low-set ears, Macrogyria, Macrotia, Microcephaly, Micrognathia, Muscle cramps, Muscular dystrophy, Opisthotonus, Pachygyria, Polyhydramnios, Polymicrogyria, Postnatal microcephaly, Proptosis, Rocker bottom foot, Scoliosis, Seizures, Short neck, Skeletal muscle atrophy, Sloping forehead, Thick vermilion border, Trismus
tRG	SALL3	1.765910164	0	DNA binding protein	BrainSpLMD|27164;Eurexp|euxassay_010911|cochlea, glomeruli, inner ear, lip, mantle layer, medulla oblongata, palatal shelf, penis, utricle, valve, ventricular layer;BrainSpMouseDev|20451	OMIM|605079
tRG	CTD.2266L18.1	1.765047087	0			
tRG	FGFBP3	1.759063615	0	Unclassified	BrainSpLMD|143282;Eurexp|euxassay_000173|basal columns, basal plate, corpus striatum, floor plate, floorplate, mantle layer, metencephalon, spinal cord, ventral grey horn, ventricular layer	SFARI||Autism, 5 - Hypothesized but untested
tRG	PALLD	1.7504686	0	Unclassified	BrainSpLMD|23022	OMIM|608092
tRG	YBX3	1.74712846	0	DNA binding protein	BrainSpLMD|8531	OMIM|603437
tRG	GATM	1.7334556	0	Enzyme: Amidinotransferase	BrainSpLMD|2628;Eurexp|euxassay_005674|diaphragm, footplate, frenulum, handplate, lower leg, paraxial mesenchyme, shoulder, skeletal muscle, upper arm, upper leg, vertebral axis muscle system	SFARI||Autism, No category;OMIM|602360;HPO|2628|Abnormality of creatine metabolism, Autism, Autosomal recessive inheritance, Delayed speech and language development, Failure to thrive, Global developmental delay, Infantile onset, Intellectual disability, Organic aciduria
tRG	TNFRSF19	1.732293545	0	Cell surface receptor	BrainSpLMD|55504;Eurexp|euxassay_000124|associated mesenchyme, cartilage condensation, cerebral cortex, epithelium, facial bones primordia, frontal bone primordium, heart, incisor, lung, main bronchus, mandible, maxilla, mesenchyme, optic foramen, palatal shelf, perioptic mesenchyme, premaxilla, primary palate, skeletal muscle, skeleton, spleen primordium, submandibular gland primordium, vibrissa	OMIM|606122
tRG	BMP7	1.726936896	0	Ligand	BrainSpLMD|655;BrainSpMouseDev|11948	OMIM|112267
tRG	HEG1	1.721630025	0	Calcium binding protein	BrainSpLMD|57493;Eurexp|euxassay_005510|ventricular layer	OMIM|614182
tRG	PMP22	1.718642832	0	Integral membrane protein	BrainSpLMD|5376	OMIM|601097;HPO|5376|Abnormality of the immune system, Acute demyelinating polyneuropathy, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Childhood onset, Cold-induced muscle cramps, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Gait ataxia, Gait disturbance, Generalized hypotonia, Hammertoe, Hearing impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Increased CSF protein, Infantile onset, Insidious onset, Juvenile onset, Kyphoscoliosis, Motor delay, Muscle weakness, Myelin outfoldings, Onion bulb formation, Paresthesia, Pes cavus, Scoliosis, Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Sensory ataxia, Slow progression, Split hand, Steppage gait, Talipes calcaneovalgus, Ulnar claw, Upper limb postural tremor, Variable expressivity, Vocal cord paralysis
tRG	LDLR	1.708829206	0	Cell surface receptor	BrainSpLMD|3949;Eurexp|euxassay_010458|adrenal gland, cervical, cervico-thoracic, clavicle, hindgut, incisor, mandible, maxilla, metanephros, midgut, orbito-sphenoid, otic capsule, rib, submandibular gland primordium, thoracic, turbinate, ventral grey horn	OMIM|606945;HPO|3949|Abnormality of internal carotid artery, Angina pectoris, Aortic atherosclerosis, Autosomal dominant inheritance, Cerebral artery atherosclerosis, Corneal arcus, Coronary atherosclerosis, Dyspnea, Heart murmur, Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia, Hypertension, Increased circulating low-density lipoprotein levels, Left ventricular failure, Myocardial infarction, Myocardial steatosis, Peripheral arterial stenosis, Precocious atherosclerosis, Premature arteriosclerosis, Premature coronary artery disease, Renal artery stenosis, Sudden cardiac death, Xanthelasma
tRG	NRG1	1.702533018	0	Growth factor	BrainSpLMD|3084;Eurexp|euxassay_007625|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, testis, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|84285	SFARI||Autism, 5 - Hypothesized but untested;OMIM|142445;COSMIC||NSCLC
tRG	GNG12	1.69368781	0	G protein	BrainSpLMD|55970;Eurexp|euxassay_002072|ventricular layer	OMIM|615405
tRG	COL4A5	1.692075049	0	Extracellular matrix protein	BrainSpLMD|1287;Eurexp|euxassay_015894|bladder, ductus deferens, floorplate, lens, lung, meninges, stomach, sublingual gland primordium, submandibular gland primordium, thyroid, umbilical artery, umbilical vein, urethra, ventricular layer;BrainSpMouseDev|12613	OMIM|303630;HPO|1287|Anterior lenticonus, Congenital cataract, Corneal erosion, Diffuse glomerular basement membrane lamellation, Diffuse leiomyomatosis, Heterogeneous, Hypertension, Hypoparathyroidism, Ichthyosis, Microscopic hematuria, Myopia, Nephritis, Nephrotic syndrome, Progressive, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidney disease, Thickening of the glomerular basement membrane, Thrombocytopenia, X-linked dominant inheritance
tRG	WWC2	1.683972918	0	Unclassified	BrainSpLMD|80014	
tRG	SFRP1	1.683850476	0	Secreted polypeptide	BrainSpLMD|6422;BrainSpMouseDev|20140	OMIM|604156
tRG	ZFP36L1	1.680737177	0	Transcription factor	BrainSpLMD|677;Eurexp|euxassay_007310|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|11978	OMIM|601064
tRG	ADAM9	1.673060618	0	Metallo protease	BrainSpLMD|8754	OMIM|602713;HPO|8754|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal recessive inheritance, Cone/cone-rod dystrophy, Nyctalopia, Photophobia, Visual impairment
tRG	RP3.418C23.2	1.672280912	0			
tRG	AIF1L	1.662362068	0	Calcium binding protein	BrainSpLMD|83543;Eurexp|euxassay_002250|basisphenoid bone, orbito-sphenoid, turbinate, ventricular layer	
tRG	CDO1	1.659985241	0	Enzyme: Oxidoreductase	BrainSpLMD|1036	OMIM|603943
tRG	PSRC1	1.644322989	0	Unclassified	BrainSpLMD|84722;Eurexp|euxassay_003651|left lung, marginal layer, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|613126
tRG	BMPR1B	1.634840775	0	Receptor serine/threonine kinase	BrainSpLMD|658;BrainSpMouseDev|11953	OMIM|603248;HPO|658|2-3 toe syndactyly, Abnormality of epiphysis morphology, Abnormality of the fingernails, Abnormality of the hip bone, Abnormality of the radius, Abnormality of the thumb, Abnormality of the ulna, Abnormality of tibia morphology, Aplasia of the middle phalanges of the toes, Aplasia of the proximal phalanges of the hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the 1st metacarpal, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Aplasia/Hypoplasia of the thumb, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bowing of the long bones, Brachydactyly, Bracket epiphysis of the middle phalanx of the 2nd finger, Bracket epiphysis of the middle phalanx of the 5th finger, Broad foot, Broad hallux, Carpal synostosis, Clinodactyly of the 5th finger, Complete duplication of distal phalanx of the thumb, Cone-shaped epiphysis, Delayed speech and language development, Disproportionate short-limb short stature, Fibular aplasia, Fibular hypoplasia, Hallux valgus, Hypergonadotropic hypogonadism, Hypoplasia of the ulna, Hypoplasia of the uterus, Joint stiffness, Limitation of joint mobility, Medially deviated second toe, Micromelia, Narrow nasal bridge, Poor motor coordination, Postaxial hand polydactyly, Primary amenorrhea, Pseudoepiphyses of the 2nd finger, Radial deviation of finger, Radial deviation of the 2nd finger, Sarcoma, Short 2nd finger, Short distal phalanx of the 2nd finger, Short distal phalanx of the thumb, Short femoral neck, Short finger, Short foot, Short hallux, Short metatarsal, Short middle phalanx of finger, Short middle phalanx of the 5th finger, Short phalanx of finger, Short proximal phalanx of finger, Short proximal phalanx of thumb, Short stature, Short thumb, Short tibia, Short toe, Skeletal dysplasia, Stippling of the epiphysis of the distal phalanx of the thumb, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Triangular shaped middle phalanx of the 2nd finger, Triangular shaped middle phalanx of the 5th finger, Type A2 brachydactyly, Type C brachydactyly, Ulnar deviation of finger, Ulnar deviation of the 2nd finger, Widened proximal tibial metaphyses
tRG	DOK5	1.630643224	0	Adapter molecule	BrainSpLMD|55816	OMIM|608334
tRG	TMEM132B	1.629833075	0	Integral membrane protein		
tRG	FOS	1.622897186	0	Transcription factor	BrainSpLMD|2353;Eurexp|euxassay_012634|mandible, maxilla;BrainSpMouseDev|14058	OMIM|164810;HPO|2353|Abnormality of skin pigmentation, Acanthosis nigricans, Accelerated skeletal maturation, Bone cyst, Broad foot, Diabetes mellitus, Generalized hirsutism, Growth hormone excess, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hyperinsulinemia, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Insulin resistance, Intellectual disability, Large hands, Lipoatrophy, Mandibular prognathia, Precocious puberty, Prominent supraorbital ridges, Skeletal muscle hypertrophy
tRG	DDAH1	1.620016026	0	Enzyme: Hydrolase	BrainSpLMD|23576;Eurexp|euxassay_003952|mantle layer, ventral grey horn, ventricular layer	OMIM|604743
tRG	COL11A1	1.612408538	0	Extracellular matrix protein	BrainSpLMD|1301;Eurexp|euxassay_004200|axial skeleton, clavicle, cranium, femur, fibula, footplate, handplate, humerus, hyoid bone, mandible, nasal septum, otic capsule, palatal shelf, pelvic girdle, radius, rib, sternum, tibia, turbinate bones, ulna;BrainSpMouseDev|12597	OMIM|120280;HPO|1301|Abnormal diaphysis morphology, Abnormal form of the vertebral bodies, Abnormality of the dentition, Abnormality of the metaphysis, Abnormality of the pinna, Abnormality of the vitreous humor, Absent frontal sinuses, Amblyopia, Anterior rib cupping, Anteverted nares, Arachnodactyly, Arthralgia, Arthropathy, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bifid uvula, Brachycephaly, Brachydactyly, Broad ischia, Broad long bones, Broad ribs, Calcification of falx cerebri, Camptodactyly, Cataract, Cerebral calcification, Cleft palate, Clinodactyly of the 5th finger, Congenital cataract, Corneal opacity, Coxa valga, Depressed nasal bridge, Downslanted palpebral fissures, Dumbbell-shaped long bone, Ectopia lentis, Epicanthus, Epiphyseal dysplasia, Esotropia, Femoral bowing, Fibular hypoplasia, Flat face, Frontal bossing, Genu valgum, Glaucoma, Glossoptosis, Hearing abnormality, Hydrops fetalis, Hypertelorism, Hypohidrosis, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hypoplastic fingernail, Hypoplastic frontal sinuses, Hypoplastic ilia, Hypoplastic ischia, Hypoplastic scapulae, Hypoplastic toenails, Hypotrichosis, Irregular distal femoral epiphysis, Irregular proximal tibial epiphyses, Irregular vertebral endplates, Joint contracture of the hand, Joint hyperflexibility, Joint hypermobility, Lens luxation, Long clavicles, Long fingers, Long philtrum, Low-set ears, Macrodontia of permanent maxillary central incisor, Malar flattening, Megalocornea, Meningeal calcification, Micrognathia, Micromelia, Midface retrusion, Myopia, Narrow chest, Narrow greater sacrosciatic notches, Narrow mouth, Omphalocele, Osteoarthritis, Patent foramen ovale, Pierre-Robin sequence, Platyspondyly, Posterior rib cupping, Posterior vertebral hypoplasia, Premature birth, Proptosis, Protuberant abdomen, Radial bowing, Respiratory insufficiency, Retinal detachment, Retinopathy, Rhizomelia, Round face, Sensorineural hearing impairment, Severe Myopia, Short femur, Short foot, Short long bone, Short neck, Short nose, Short palm, Short ribs, Short stature, Small distal femoral epiphysis, Small hand, Small proximal tibial epiphyses, Spondyloepiphyseal dysplasia, Stillbirth, Thick lower lip vermilion, Thick upper lip vermilion, Thickened calvaria, Thin clavicles, Thin ribs, Thoracic hypoplasia, Ulnar bowing, Upper airway obstruction, Visual impairment, Vitreoretinal degeneration, Wide anterior fontanel, Wide nasal bridge, Wide tufts of distal phalanges, Widely patent coronal suture, Widely patent sagittal suture
tRG	RP11.263K19.4	1.609768181	0			
tRG	CCDC173	1.60903462	0	Unclassified		
tRG	SLC1A3	1.608538931	0	Transport/cargo protein	BrainSpLMD|6507;Eurexp|euxassay_001899|mantle layer, thymus primordium, tongue, ventral grey horn, ventricular layer;BrainSpMouseDev|20274	OMIM|600111;HPO|6507|Autosomal dominant inheritance, Cerebellar hypoplasia, Diplopia, Dysarthria, Episodic ataxia, Generalized hypotonia, Hemiparesis, Hemiplegia, Migraine, Motor delay, Nausea, Phonophobia, Photophobia, Seizures, Slurred speech, Truncal ataxia, Vertigo, Vomiting
tRG	RP11.138A9.2	1.598145929	0			
tRG	ID4	1.590706038	0	Transcription regulatory protein	BrainSpLMD|3400;BrainSpMouseDev|15677	OMIM|600581
tRG	SOX9	1.58543566	0	Transcription factor	BrainSpLMD|6662;Eurexp|euxassay_002633|axial skeleton, basisphenoid bone, calyces, exoccipital bone, femur, lung, mesenchyme, naris, nasal septum, nucleus pulposus, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, pharyngo-tympanic tube, trachea, turbinate, ventricular layer, vibrissa;BrainSpMouseDev|20444	OMIM|608160;HPO|6662|11 pairs of ribs, Abnormal heart morphology, Abnormal scrotal rugation, Abnormal sex determination, Abnormality of male internal genitalia, Abnormality of the labia, Abnormality of the pharynx, Abnormality of the scrotum, Abnormality of the uterus, Absent sternal ossification, Ambiguous genitalia, Anterior tibial bowing, Apnea, Autosomal dominant inheritance, Azoospermia, Bifid scrotum, Blepharophimosis, Cleft palate, Clitoral hypertrophy, Cryptorchidism, Decreased fertility, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Depressed nasal bridge, Depressed nasal ridge, Disproportionate short-limb short stature, Dysgerminoma, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Failure to thrive, Female external genitalia in individual with 46,XY karyotype, Femoral bowing, Fibular hypoplasia, Flat face, Generalized hypotonia, Glossoptosis, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hearing impairment, High forehead, Hip dislocation, Hydrocephalus, Hydronephrosis, Hypergonadotropic hypogonadism, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the vagina, Hypoplastic cervical vertebrae, Hypoplastic iliac wing, Hypoplastic inferior ilia, Hypoplastic scapulae, Hypospadias, Kyphoscoliosis, Laryngomalacia, Low-set ears, Macrocephaly, Male hypogonadism, Male infertility, Male pseudohermaphroditism, Micrognathia, Micropenis, Narrow chest, Neonatal respiratory distress, Neonatal short-limb short stature, Osteoporosis, Polycystic ovaries, Polyhydramnios, Poorly ossified cervical vertebrae, Primary amenorrhea, Proptosis, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Scrotal hypoplasia, Sex reversal, Short neck, Short palpebral fissure, Short stature, Shortening of all phalanges of fingers, Shortening of all phalanges of the toes, Skin dimples, Small abnormally formed scapulae, Small face, Sparse axillary hair, Sparse pubic hair, Streak ovary, Talipes equinovarus, Testicular dysgenesis, Thin ribs, Thoracic hypoplasia, Tibial bowing, Tracheobronchomalacia, True hermaphroditism, Upper airway obstruction, Urogenital sinus anomaly, Vanishing testis, Wide anterior fontanel
tRG	DACH1	1.574154549	0	Transcription regulatory protein	BrainSpLMD|1602;Eurexp|euxassay_012739|associated mesenchyme, bladder, calyces, cortex, dermis, dorsal root ganglion, facial VII, left lung, mantle layer, meninges, midgut, olfactory, oral region, pelvis, penis, retina, right lung, stomach, thymus primordium, trigeminal V, ureter, urethra, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|12914	OMIM|603803
tRG	MOV10	1.571118106	0	Unclassified	BrainSpLMD|4343;Eurexp|euxassay_012341|anterior, midgut, olfactory, otic capsule, pituitary, stomach, turbinate bones	OMIM|610742
tRG	RP1.104O17.1	1.548277747	0			
tRG	F3	1.541962839	0	Coagulation factor	BrainSpLMD|2152;Eurexp|euxassay_009157|axial muscle, calyces, epithelium, larynx, left lung, midgut, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, pyloric region, rectum, right lung, ventricular layer, vibrissa	OMIM|134390
tRG	NR4A1	1.53581115	0	Nuclear receptor	BrainSpLMD|3164;Eurexp|euxassay_007083|adrenal gland, clavicle, mandible, peripheral nervous system, submandibular gland primordium, testis, vibrissa;BrainSpMouseDev|15145	OMIM|139139
tRG	TMEM47	1.519167166	0	Integral membrane protein	BrainSpLMD|83604;Eurexp|euxassay_008336|ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|300698
tRG	ARAP2	1.511316205	0	GTPase activating protein	BrainSpLMD|116984	OMIM|606645
tRG	VIM	1.502495867	0	Cytoskeletal protein	BrainSpLMD|7431	OMIM|193060;HPO|7431|Autosomal dominant inheritance, Congenital onset, Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract
tRG	DTNA	1.495765887	0	Unclassified	BrainSpLMD|1837;Eurexp|euxassay_010455|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|601239;HPO|1837|Atrial fibrillation, Autosomal dominant inheritance, Congestive heart failure, Hypoplastic left heart, Left ventricular hypertrophy, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Patent ductus arteriosus, Sudden cardiac death, Ventricular arrhythmia, Ventricular septal defect
tRG	MID1	1.495764672	0	Transcription regulatory protein;Ubiquitin proteasome system protein	BrainSpLMD|4281;Eurexp|euxassay_013835|excretory component, marginal layer, neural retina, ventricular layer;BrainSpMouseDev|17087	OMIM|300552;HPO|4281|Abnormal heart morphology, Abnormality of the nasopharynx, Agenesis of corpus callosum, Anal atresia, Anteverted nares, Aspiration, Cleft palate, Cleft upper lip, Cryptorchidism, Dysphagia, Esophageal atresia, Frontal bossing, Gastroesophageal reflux, Global developmental delay, Heterogeneous, High palate, Hypertelorism, Hypospadias, Posterior pharyngeal cleft, Prominent forehead, Smooth philtrum, Telecanthus, Thin upper lip vermilion, Tracheoesophageal fistula, Wide nasal bridge, Widow's peak, X-linked recessive inheritance
tRG	PPM1K	1.493201631	0	Serine/threonine phosphatase	BrainSpLMD|152926	OMIM|611065;HPO|152926|Elevated plasma branched chain amino acids
tRG	ATP1A2	1.492611064	0	ATPase	BrainSpLMD|477;Eurexp|euxassay_001505|brain, cervical, cervico-thoracic, cochlea, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mesenchyme, naris, neural retina, spinal cord, stroma, thoracic, tongue, trigeminal V, turbinate bones, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|62830	OMIM|182340;HPO|477|Abnormality of movement, Aphasia, Apraxia, Ataxia, Autosomal dominant inheritance, Blurred vision, Choreoathetosis, Coma, Confusion, Diplopia, Drowsiness, Dysarthria, Dysphasia, Dystonia, Episodic ataxia, Episodic hemiplegia, Episodic quadriplegia, Fever, Generalized tonic-clonic seizures, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Heterogeneous, Incomplete penetrance, Intellectual disability, Mental deterioration, Migraine with aura, Nystagmus, Seizures, Transient unilateral blurring of vision, Vertigo
tRG	RFX4	1.49009905	0	DNA binding protein	BrainSpLMD|5992;Eurexp|euxassay_005798|ventricular layer;BrainSpMouseDev|46978	OMIM|603958
tRG	PELI2	1.484654631	0	Unclassified	BrainSpLMD|57161;Eurexp|euxassay_014344|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|614798
tRG	DMRTA2	1.484601857	0	Transcription factor		OMIM|614804
tRG	ZFP36	1.484566918	0	RNA binding protein	BrainSpLMD|7538	OMIM|190700
tRG	SOAT1	1.478277259	0	Enzyme: Acyltransferase	BrainSpLMD|6646;Eurexp|euxassay_004596|adrenal gland, calyces, loop, midgut, stomach, turbinate bones	OMIM|102642
tRG	CNN3	1.46947959	0	Cytoskeletal associated protein	BrainSpLMD|1266;Eurexp|euxassay_009765|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|602374
tRG	NOTCH2	1.454510106	0	Cell surface receptor	BrainSpLMD|4853;Eurexp|euxassay_015406|alimentary system, cardiovascular system, cavities and their linings, choroid plexus, gland, integumental system, limb, marginal layer, meninges, mesenchyme, olfactory, renal/urinary system, reproductive system, respiratory system, skeleton, tail, ventricular layer, vertebral axis muscle system, vomeronasal organ;BrainSpMouseDev|17896	OMIM|600275;COSMIC||marginal zone lymphoma, DLBCL, bladder, Hajdu-Cheney syndrome, serpentine fibula-polycystic kidney syndrome;HPO|4853|Abnormality of the cardiac septa, Abnormality of the fingernails, Absent frontal sinuses, Anteverted nares, Arnold-Chiari malformation, Arthralgia, Atrial septal defect, Autosomal dominant inheritance, Basilar impression, Biconcave vertebral bodies, Bone pain, Brachydactyly, Broad forehead, Cervical instability, Cholestasis, Cholestatic liver disease, Coarse facial features, Conductive hearing impairment, Crowded carpal bones, Cryptorchidism, Decreased skull ossification, Dental malocclusion, Dislocated radial head, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Elongated sella turcica, Epicanthus, Failure to thrive, Foot acroosteolysis, Full cheeks, Generalized hirsutism, Genu valgum, Hearing impairment, Hematuria, High palate, Hirsutism, Hydrocephalus, Hypertelorism, Hypertension, Hypoplastic 5th lumbar vertebrae, Hypospadias, Inguinal hernia, Joint hyperflexibility, Joint laxity, Kyphoscoliosis, Large earlobe, Long eyelashes, Long nose, Long philtrum, Low-set ears, Macrocephaly, Micrognathia, Narrow mouth, Open bite, Osteolysis, Osteolytic defects of the phalanges of the hand, Osteopenia, Osteoporosis, Partial absence of toe, Patent ductus arteriosus, Pathologic fracture, Periodontitis, Peripheral pulmonary artery stenosis, Phenotypic variability, Platybasia, Pointed chin, Posterior embryotoxon, Premature loss of teeth, Prominent occiput, Proteinuria, Pulmonic stenosis, Recurrent fractures, Renal cyst, Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Scoliosis, Short distal phalanx of finger, Short nail, Short neck, Short stature, Short toe, Skeletal dysplasia, Synophrys, Tall lumbar vertebral bodies, Telecanthus, Tetralogy of Fallot, Thick eyebrow, Thin vermilion border, Triangular face, Umbilical hernia, Vertebral compression fractures, Wide nose, Wormian bones
tRG	NFE2L2	1.446335753	0	Transcription factor	BrainSpLMD|4780;Eurexp|euxassay_018087|larynx, midgut, rectum, stomach, submandibular gland primordium, thyroid, trachea;BrainSpMouseDev|17791	OMIM|600492;COSMIC||NSCLC, HNSCC
tRG	PPAP2B	1.441923754	0			
tRG	IQGAP2	1.439560391	0	GTPase activating protein	BrainSpLMD|10788;Eurexp|euxassay_013405|adrenal gland, incisor, intervertebral disc, lobe, mandible, mesenchyme, metanephros, midgut, oesophagus, skeletal muscle, stomach, thymus primordium, ventricular layer, vertebral axis muscle system, vertebral cartilage condensation	OMIM|605401
tRG	VCL	1.422425086	0	Cytoskeletal associated protein	BrainSpLMD|7414	OMIM|193065;HPO|7414|Autosomal dominant inheritance, Congestive heart failure, Dilated cardiomyopathy, Dyspnea, Endocardial fibrosis, Hypertrophic cardiomyopathy
tRG	NBPF10	1.420312373	0			OMIM|614000
tRG	INTU	1.41626527	0	Unclassified	BrainSpLMD|27152	OMIM|610621
tRG	PLCE1	1.411503567	0	Guanine nucleotide exchange factor	BrainSpLMD|51196;Eurexp|euxassay_014545|floor plate, floorplate	OMIM|608414;HPO|51196|Autosomal recessive inheritance, Childhood onset, Diffuse mesangial sclerosis, Edema, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Progressive, Proteinuria, Stage 5 chronic kidney disease
tRG	NCKAP5	1.409806056	0	Unclassified	BrainSpLMD|344148;Eurexp|euxassay_016857|brain, cochlea, epithelium, left lung, otic capsule, retina, right lung, spinal cord	SFARI||Autism, 4 - Minimal evidence;OMIM|608789
tRG	FABP5	1.398602206	0	Transport/cargo protein	Eurexp|euxassay_002194|axial skeleton, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lobe, molar, naris, thoracic, thymus primordium, trigeminal V, vagus X, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|605168
tRG	SCRN1	1.396518468	0	Protease	BrainSpLMD|9805;Eurexp|euxassay_012592|cervical, cervico-thoracic, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, penis, thoracic, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII	OMIM|614965
tRG	GAB1	1.395921553	0	Adapter molecule	BrainSpLMD|2549	OMIM|604439
tRG	AP001172.2	1.395234976	0			
tRG	TRIM9	1.394485811	0	Unclassified	BrainSpLMD|114088;Eurexp|euxassay_010509|mantle layer, molar, ventricular layer	OMIM|606555
tRG	BCAN	1.383673077	0	Adhesion molecule	BrainSpLMD|63827;Eurexp|euxassay_018187|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|11818	OMIM|600347
tRG	FABP5P7	1.380234334	0			
tRG	TBC1D1	1.372267184	0	Unclassified	BrainSpLMD|23216	OMIM|609850
tRG	MYADM	1.349033418	0	Unclassified	BrainSpLMD|91663;Eurexp|euxassay_004288|femur, footplate, forelimb, hindlimb, mesenchyme, tail	OMIM|609959
tRG	DNAJC1	1.346208204	0	Chaperone	BrainSpLMD|64215	OMIM|611207
tRG	DUSP10	1.339563697	0	Enzyme: Phosphatase;Enzyme: Phosphohydrolase	BrainSpLMD|11221	OMIM|608867
tRG	NBPF14	1.329240261	0	Unclassified		OMIM|614003
tRG	MYO6	1.328900395	0	Motor protein	BrainSpLMD|4646	OMIM|600970;HPO|4646|Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment
tRG	GRB14	1.32563749	0	Adapter molecule	BrainSpLMD|2888;Eurexp|euxassay_012213|dorsal root ganglion, mantle layer, nucleus pulposus, trigeminal V	OMIM|601524
tRG	ANXA2	1.322821827	0	Calcium binding protein	BrainSpLMD|302;Eurexp|euxassay_013682|basal plate, mantle layer, ventral grey horn;BrainSpMouseDev|12091	OMIM|151740
tRG	FAM107A	1.296953373	0	Unclassified	BrainSpLMD|11170;Eurexp|euxassay_005179|inner ear, olfactory	OMIM|608295
tRG	CDON	1.295099921	0	Cell surface receptor	BrainSpLMD|50937;BrainSpMouseDev|37081	OMIM|608707;HPO|50937|Agenesis of corpus callosum, Autosomal dominant inheritance, Cleft lip, Cleft palate, Delayed puberty, Ectopic posterior pituitary, Failure to thrive, Global developmental delay, Holoprosencephaly, Hypoglycemia, Hypoplasia of penis, Hypotelorism, Hypothyroidism, Microcephaly, Polysplenia, Proptosis, Short stature, Sporadic, Synophrys, Thick eyebrow, Variable expressivity
tRG	FSTL1	1.293248742	0	Protease inhibitor	Eurexp|euxassay_003685|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail;BrainSpMouseDev|14090	OMIM|605547
tRG	GPC4	1.289886262	0	Integral membrane protein	BrainSpLMD|2239;Eurexp|euxassay_004882|aorta, bladder, clavicle, cochlea, diaphragm, dorsal grey horn, extrinsic ocular muscle, handplate, hindgut, lung, mandible, mantle layer, maxilla, maxillary division, medulla, mesenchyme, metanephros, midgut, pancreas, penis, pharyngo-tympanic tube, skeletal muscle, sternum, stomach, submandibular gland primordium, testis, thymus primordium, ventral grey horn, ventricular layer, vertebral axis muscle system	SFARI||Autism, 3 - Suggestive evidence;OMIM|300168;HPO|2239|2-3 finger syndactyly, Abnormal lung lobation, Abnormality of the helix, Abnormality of the ribs, Accelerated skeletal maturation, Agenesis of corpus callosum, Anteverted nares, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Birth length greater than 97th percentile, Broad foot, Broad palm, Broad secondary alveolar ridge, Broad thumb, Broad toe, Bundle branch block, Camptodactyly of finger, Cardiomyopathy, Cerebellar vermis hypoplasia, Cervical ribs, Cleft palate, Clinodactyly of the 5th finger, Coarse facial features, Congenital diaphragmatic hernia, Cryptorchidism, Death in infancy, Dental malocclusion, Depressed nasal bridge, Diastasis recti, Downslanted palpebral fissures, Duplication of renal pelvis, Enlarged kidney, Epicanthus, Finger syndactyly, Flared iliac wings, Generalized hypotonia, Hearing impairment, Hepatomegaly, Heterogeneous, High, narrow palate, Hydrocephalus, Hydronephrosis, Hydroureter, Hypertelorism, Hypoglycemia, Hypospadias, Increased IgE level, Inguinal hernia, Intestinal malrotation, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Mandibular prognathia, Meckel diverticulum, Multicystic kidney dysplasia, Nail dysplasia, Narrow sacroiliac notch, Nephroblastoma, Neurological speech impairment, Omphalocele, Pancreatic islet-cell hyperplasia, Patent ductus arteriosus, Pectus excavatum, Polyhydramnios, Polysplenia, Postaxial hand polydactyly, Posterior helix pit, Preauricular pit, Preauricular skin tag, Prolonged QT interval, Pulmonic stenosis, Renal cyst, Scoliosis, Short 2nd finger, Short distal phalanx of finger, Short foot, Short neck, Short nose, Short palm, Short sacroiliac notch, Short toe, Six lumbar vertebrae, Small nail, Somatic mutation, Splenomegaly, Submucous cleft lip, Supernumerary nipple, Talipes equinovarus, Tall stature, Toe syndactyly, Transposition of the great arteries, Two carpal ossification centers present at birth, Umbilical hernia, Ureteral duplication, Ventricular septal defect, Vertebral fusion, Vertebral segmentation defect, Webbed neck, Wide mouth, Wide nasal bridge, X-linked recessive inheritance
tRG	SPATA13	1.288681145	0	Unclassified	BrainSpLMD|221178;Eurexp|euxassay_009443|ventricular layer	OMIM|613324
tRG	MAT2B	1.273644207	0	Enzyme: Adenosyltransferase	BrainSpLMD|27430;Eurexp|euxassay_000623|olfactory	OMIM|605527
tRG	TSPAN6	1.269499384	0	Cell surface receptor	BrainSpLMD|7105;Eurexp|euxassay_004870|incisor, mandible, maxilla, molar	OMIM|300191
tRG	SYNE1	1.268825889	0	Unclassified	BrainSpLMD|23345	SFARI||Autism, 4 - Minimal evidence;OMIM|608441;HPO|23345|Adult onset, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Childhood onset, Dysarthria, Dysmetria, Elevated serum creatine phosphokinase, Gait ataxia, Left ventricular septal hypertrophy, Limb ataxia, Muscular dystrophy, Neck muscle weakness, Nystagmus, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Slow progression
tRG	DDIT3	1.256281299	0	Transcription factor	BrainSpLMD|1649;Eurexp|euxassay_009824|olfactory;BrainSpMouseDev|12978	OMIM|126337;COSMIC||liposarcoma;HPO|1649|Myxoid liposarcoma, Somatic mutation, Subcutaneous nodule
tRG	IFITM3	1.254824436	0	Integral membrane protein	BrainSpLMD|10410;Eurexp|euxassay_004558|pancreas, submandibular gland primordium, thymus primordium	OMIM|605579
tRG	ANKRD20A3	1.233143624	0	Unclassified		
tRG	CNTNAP3B	1.233088276	0			
tRG	AKAP12	1.232591056	0	Anchor protein	BrainSpLMD|9590	OMIM|604698
tRG	JAM3	1.23190036	0	Adhesion molecule	BrainSpLMD|83700;Eurexp|euxassay_000180|cerebral cortex, chondrocranium, diaphragm, head mesenchyme, limb, mantle layer, mesenchyme, tongue, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|58180	OMIM|606871;HPO|83700|Autosomal recessive inheritance, Cataract, Congenital onset, Global developmental delay, Hepatomegaly, Hyperreflexia, Postnatal microcephaly, Seizures, Spasticity, Ventriculomegaly
tRG	STON2	1.229173755	0	Unclassified	BrainSpLMD|85439	OMIM|608467
tRG	LIFR	1.224923007	0	Cytokine receptor	BrainSpLMD|3977;Eurexp|euxassay_010649|axial muscle, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, orbito-sphenoid, thymus primordium, thyroid, tongue, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16651	OMIM|151443;COSMIC||salivary adenoma;HPO|3977|Abnormal metaphyseal trabeculation, Abnormality of dental enamel, Abnormality of vision, Absent patellar reflexes, Adducted thumb, Apnea, Asthma, Autosomal recessive inheritance, Blotching pigmentation of the skin, Broad ischia, Camptodactyly of finger, Contracture of the proximal interphalangeal joint of the 5th finger, Dysautonomia, Dysphagia, Elbow flexion contracture, Enlarged joints, Episodic fever, Feeding difficulties, Feeding difficulties in infancy, Femoral bowing, Flared metaphysis, Flexion contracture of toe, Frontal bossing, Generalized hypotonia, Genu valgum, Hoarse voice, Hyperhidrosis, Hypohidrosis, Hypoplastic iliac body, Impaired pain sensation, Intrauterine growth retardation, Knee flexion contracture, Lacrimation abnormality, Low-set ears, Malar flattening, Metaphyseal rarefaction, Metaphyseal widening, Micrognathia, Micromelia, Midface retrusion, Myotonia, Nasal speech, Oligohydramnios, Opacification of the corneal stroma, Osteopenia, Osteoporosis, Paresthesia, Pathologic fracture, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Pursed lips, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Short neck, Short nose, Short palpebral fissure, Short phalanx of finger, Short stature, Short tibia, Single transverse palmar crease, Skeletal dysplasia, Smooth tongue, Square face, Talipes, Talipes equinovarus, Talipes valgus, Thickened cortex of long bones, Thin ribs, Thin skin, Tibial bowing, Trismus, Ulnar deviation of finger, Wide nasal base
tRG	AC120042.1	1.21873167	0			
tRG	FABP7	1.213567648	0	Transport/cargo protein	BrainSpLMD|2173;Eurexp|euxassay_000474|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, rest of cerebellum, trigeminal V, ventral grey horn, ventricular layer	SFARI||Autism, 6 - Evidence does not support role;OMIM|602965
tRG	RFTN2	1.20670509	0	Unclassified	BrainSpLMD|130132	
tRG	FOSB	1.19263056	0	Transcription factor	BrainSpLMD|2354	OMIM|164772
tRG	TTYH1	1.185017866	0	Ion channel	BrainSpLMD|57348;Eurexp|euxassay_018316|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|37048	OMIM|605784
tRG	TNC	1.183496126	0	Adhesion molecule	BrainSpLMD|3371;Eurexp|euxassay_009501|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, cochlea, cochlear duct, diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, fibula, handplate, humerus, lip, lung, mandible, mantle layer, maxilla, maxillary division, mesenchyme, molar, nasal septum, oesophagus, orbito-sphenoid, palatal shelf, pelvic girdle, penis, pharyngo-tympanic tube, rib, scapula, skeletal muscle, sternum, temporal bone, thymus primordium, tibia, tongue, trigeminal V, vault of skull, ventral grey horn, ventricle, ventricular layer, vibrissa;BrainSpMouseDev|21680	OMIM|187380;COSMIC||SCC, melanoma;HPO|3371|Autosomal dominant inheritance, Hearing impairment
tRG	PEA15	1.182134159	0	Transport/cargo protein	BrainSpLMD|8682;Eurexp|euxassay_011580|neural retina, ventral grey horn, ventricular layer	OMIM|603434
tRG	CTD.2282P23.2	1.172791817	0			
tRG	PTN	1.169171854	0	Cytokine	BrainSpLMD|5764	OMIM|162095
tRG	EZR	1.167412058	0	Anchor protein	BrainSpLMD|7430;Eurexp|euxassay_018306|axial skeleton, calyces, choroid plexus, cochlea, dorsal root ganglion, epidermis, epithelium, fundus region, hindgut, incisor, larynx, lens, lobe, lung, marginal layer, midgut, molar, oesophagus, oral epithelium, pelvis, penis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, rib, saccule, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricle, ventricular layer, vibrissa	OMIM|123900;COSMIC||NSCLC
tRG	RHOQ	1.16197417	0	GTPase		OMIM|605857
tRG	DBI	1.161270415	0	Ligand	BrainSpLMD|1622;BrainSpMouseDev|12947	OMIM|125950
tRG	PHACTR2	1.154637175	0	Enzyme regulator	BrainSpLMD|9749;Eurexp|euxassay_007706|alimentary system, cardiovascular system, cavities and their linings, choroid invagination, choroid plexus, gland, integumental system, limb, mesenchyme, renal/urinary system, reproductive system, respiratory system, roof plate, sensory organ, tail, ventricular layer, vertebral axis muscle system	OMIM|608724
tRG	ZIC2	1.147715029	0	Transcription regulatory protein	BrainSpLMD|7546;BrainSpMouseDev|22529	OMIM|603073;HPO|7546|Abnormal facial shape, Autosomal dominant inheritance, Global developmental delay, Holoprosencephaly, Hydrocephalus, Intellectual disability, Microcephaly, Synophrys, Trigonocephaly
tRG	PTGFRN	1.142400453	0	Integral membrane protein	BrainSpLMD|5738;Eurexp|euxassay_007366|axial skeleton, clavicle, floor plate, floorplate, lung, mantle layer, mesenchyme, palatal shelf, penis, sternum, submandibular gland primordium, ventricular layer, vibrissa	OMIM|601204
tRG	AMOTL2	1.137380706	0	Unclassified	BrainSpLMD|51421;Eurexp|euxassay_012626|axial skeleton, ventricular layer	OMIM|614658
tRG	NOTCH3	1.133946507	0	Cell surface receptor	BrainSpLMD|4854;BrainSpMouseDev|17898	OMIM|600276;HPO|4854|Abnormal electroretinogram, Abnormal form of the vertebral bodies, Abnormality of the hair, Abnormality of the metaphysis, Abnormality of the middle ear ossicles, Abnormality of the musculature, Abnormality of the rib cage, Abnormality of the skin, Abnormality of the skull, Abnormality of the thorax, Abnormality of visual evoked potentials, Adult onset, Amaurosis fugax, Aphasia, Arachnoid cyst, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Autosomal dominant inheritance, Biconcave vertebral bodies, Bone cyst, Cerebral cortical atrophy, Cerebral ischemia, Chondrocalcinosis, Coarse hair, Coma, Conductive hearing impairment, Confusion, Cranial nerve paralysis, Craniofacial hyperostosis, Cryptorchidism, Dementia, Dental crowding, Depressivity, Developmental regression, Dolichocephaly, Downslanted palpebral fissures, Dural ectasia, EEG abnormality, Elevated serum creatine phosphokinase, Fever, Gait disturbance, Generalized hypotonia, Gingival fibromatosis, Hemiplegia, High palate, High, narrow palate, Hypertelorism, Impaired pain sensation, Inguinal hernia, Joint hyperflexibility, Joint hypermobility, Kyphosis, Leukoencephalopathy, Long philtrum, Low posterior hairline, Low-set ears, Malar flattening, Memory impairment, Meningocele, Micrognathia, Migraine, Motor delay, Narrow face, Neoplasm of the lung, Neoplasm of the skin, Nonarteritic anterior ischemic optic neuropathy, Patent ductus arteriosus, Pectus excavatum, Platybasia, Posteriorly rotated ears, Prominent metopic ridge, Pseudobulbar paralysis, Ptosis, Recurrent subcortical infarcts, Retinal arteriolar tortuosity, Sclerosis of skull base, Scoliosis, Seizures, Sensory neuropathy, Short nasal bridge, Short neck, Short stature, Smooth philtrum, Spasticity, Stroke, Subcortical dementia, Subcutaneous nodule, Syringomyelia, Umbilical hernia, Urinary incontinence, Varicose veins, Vertebral fusion, Visual impairment, Wormian bones
tRG	ANXA2P2	1.113645016	0		BrainSpLMD|304	
tRG	NEDD9	1.112835471	0	Adhesion molecule	BrainSpLMD|4739;Eurexp|euxassay_006351|aorta, calyces, cortex, epithelium, incisor, left lung, mesenchyme, midgut, molar, olfactory, pelvis, rectum, retina, right lung, sternum, stomach, thymus primordium, thyroid, trachea, ureter, ventricular layer, vibrissa, vomeronasal organ	OMIM|602265
tRG	MCL1	1.109440287	0	Chaperone	BrainSpLMD|4170	OMIM|159552
tRG	PON2	1.108531682	0	Enzyme: Esterase	BrainSpLMD|5445	OMIM|602447;HPO|5445|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
tRG	DENND1A	1.103999477	0	Unclassified	BrainSpLMD|57706	OMIM|613633
tRG	MLF1	1.100172494	0	Unclassified	BrainSpLMD|4291;Eurexp|euxassay_009918|choroid invagination, choroid plexus, roof plate	OMIM|601402;COSMIC||AML
tRG	CCNL1	1.088041285	0	RNA binding protein	BrainSpLMD|57018	OMIM|613384
tRG	SLCO1C1	1.08685607	0	Membrane transport protein	BrainSpLMD|53919;Eurexp|euxassay_007061|4th ventricle, choroid plexus, forebrain, hindbrain, meninges, midbrain, spinal cord, ventricular layer	OMIM|613389
tRG	ANXA5	1.08295507	0	Calcium binding protein	BrainSpLMD|308;Eurexp|euxassay_002158|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, meninges, renal/urinary system, reproductive system, respiratory system, tail	OMIM|131230
tRG	PDLIM5	1.081707644	0	Adapter molecule	BrainSpLMD|10611;Eurexp|euxassay_011640|alar columns, axial skeleton, bladder, choroid plexus, clavicle, dorsal grey horn, floor plate, floorplate, mesenchyme, metanephros, midgut, oesophagus, stomach, submandibular gland primordium, trachea, urethra, ventral grey horn, ventricular layer	OMIM|605904
tRG	PHLDA1	1.076875162	0	Transcription factor	BrainSpLMD|22822;Eurexp|euxassay_008411|anterior, axial skeleton, bladder, cartilaginous ring, cornea, diaphragm, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, hepatic duct, hindgut, incisor, inner ear, left lung, liver, mantle layer, medulla, meninges, metanephros, midgut, molar, naso-lacrimal duct, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, right lung, skeletal muscle, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, tongue, trigeminal V, ureter, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|605335
tRG	SLC35F1	1.069826118	0	Integral membrane protein	Eurexp|euxassay_019705|dorsal root ganglion, embryo, glossopharyngeal IX, intermediate grey horn, mantle layer, rest of cerebellum, trigeminal V, ventral grey horn, ventricular layer	
tRG	NPAS3	1.060947663	0	Transcription factor	BrainSpLMD|64067;Eurexp|euxassay_009424|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|27131	OMIM|609430
tRG	AXL	1.05611807	0	Receptor tyrosine kinase	BrainSpLMD|558;Eurexp|euxassay_001756|cardiovascular system, gland, head mesenchyme, integumental system, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|26110	OMIM|109135;HPO|558|Autosomal dominant inheritance, Autosomal recessive inheritance, Cryptorchidism, Decreased testicular size, Gynecomastia, Hypogonadotrophic hypogonadism, Micropenis, Primary amenorrhea, Sparse axillary hair, Sparse pubic hair
tRG	MYO10	1.05121106	0	Motor protein	BrainSpLMD|4651;Eurexp|euxassay_009373|mantle layer, marginal layer, thymus primordium, trigeminal V, ventricular layer	OMIM|601481
tRG	MSMO1	1.049504808	0	Unclassified	BrainSpLMD|6307;Eurexp|euxassay_000744|Meckel's cartilage, adrenal gland, calyces, chondrocranium, dorsal root ganglion, facial VII, foregut-midgut junction, hindgut, incisor, inferior, lobe, mesenchyme, midgut, molar, olfactory, stomach, superior, testis, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|607545;HPO|6307|Arthralgia, Autosomal recessive inheritance, Blepharitis, Congenital cataract, Decreased circulating low-density lipoprotein levels, Delayed puberty, Delayed skeletal maturation, Failure to thrive, Global developmental delay, Hypocholesterolemia, Ichthyosis, Intellectual disability, mild, Microcephaly, Psoriasiform dermatitis, Short stature
tRG	ATP1B2	1.030032985	0	ATPase	BrainSpLMD|482;Eurexp|euxassay_011653|lobe, pituitary, ventral grey horn, ventricular layer;BrainSpMouseDev|11718	OMIM|182331
tRG	AASS	1.029770322	0	Enzyme: Oxidoreductase;Enzyme: Synthase	BrainSpLMD|10157	OMIM|605113;HPO|10157|Abnormality of the genitourinary system, Anemia, Autosomal recessive inheritance, Cognitive impairment, Delayed speech and language development, EEG abnormality, Ectopia lentis, Histidinuria, Hyperactivity, Hyperlysinemia, Hyperlysinuria, Infantile onset, Intellectual disability, Intellectual disability, mild, Muscular hypotonia, Phenotypic variability, Seizures, Short attention span, Short stature, Spastic diplegia
tRG	WEE1	1.026103375	0	Dual specificity kinase	BrainSpLMD|7465;Eurexp|euxassay_016462|hindgut, lung, midgut, stomach, submandibular gland primordium, ventricular layer	OMIM|193525
tRG	IDI1	1.024674994	0	Enzyme: Isomerase	BrainSpLMD|3422;Eurexp|euxassay_011601|adrenal gland, cervical, cervico-thoracic, clavicle, cortex, dorsal root ganglion, glossopharyngeal IX, hindgut, incisor, lobe, mandible, mantle layer, maxilla, midgut, molar, neural retina, olfactory, orbito-sphenoid, pancreas, rectum, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ	OMIM|604055
tRG	IER2	1.014550139	0	Transcription factor	BrainSpLMD|9592;Eurexp|euxassay_013742|cochlea, incisor, molar, submandibular gland primordium, utricle, vestibular component, vibrissa	
tRG	OAT	1.014494419	0	Enzyme: Aminotransferase	BrainSpLMD|4942	OMIM|613349;HPO|4942|Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Blindness, Chorioretinal atrophy, EMG abnormality, Myopia, Nyctalopia, Posterior subcapsular cataract, Proximal muscle weakness
tRG	INSIG1	1.011598194	0	Integral membrane protein	BrainSpLMD|3638;Eurexp|euxassay_011040|cervical, cervico-thoracic, glossopharyngeal IX, hindgut, incisor, lobe, mandible, maxilla, mesenchyme, midgut, neural retina, rectum, stomach, thoracic, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|602055
tRG	AGO3	1.005751855	0	Translation regulatory protein	BrainSpLMD|192669	OMIM|607355
tRG	ZFHX4	1.003057134	0	Transcription factor	BrainSpLMD|79776;Eurexp|euxassay_005820|epidermis, mantle layer, nasal septum, urethra;BrainSpMouseDev|56662	OMIM|606940;HPO|79776|Autosomal dominant inheritance, Congenital ptosis
tRG	TRPS1	0.987480707	0	Transcription factor	BrainSpLMD|7227;Eurexp|euxassay_011487|axial skeleton, basioccipital bone, basisphenoid bone, bladder, clavicle, cornea, cricoid, diaphragm, dorsal grey horn, exoccipital bone, femur, humerus, knee, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, rib, skeletal muscle, sternum, stomach, submandibular gland primordium, thyroid, tongue, trachea, ureter, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|58142	OMIM|604386;HPO|7227|Abnormality of the nervous system, Abnormally low-pitched voice, Accelerated bone age after puberty, Aplasia/Hypoplasia of the mandible, Arthralgia, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Bone pain, Bulbous nose, Camptodactyly of finger, Carious teeth, Chin with horizontal crease, Clinodactyly of the 5th finger, Concave nail, Cone-shaped epiphyses of the middle phalanges of the hand, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphyses of the proximal phalanges of the hand, Cone-shaped epiphysis, Coxa magna, Deep philtrum, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Fine hair, Flat capital femoral epiphysis, Fragile nails, Frontal bossing, Generalized hypotonia, High palate, Hyperlordosis, Increased number of teeth, Infantile muscular hypotonia, Intellectual disability, Ivory epiphyses of the distal phalanges of the hand, Joint dislocation, Joint hyperflexibility, Leukonychia, Long philtrum, Long upper lip, Low-set, posteriorly rotated ears, Macrotia, Microdontia, Micrognathia, Multiple long-bone exostoses, Muscular hypotonia, Narrow palate, Osteoarthritis, Osteopenia, Pear-shaped nose, Pectus carinatum, Pes planus, Protruding ear, Recurrent respiratory infections, Redundant skin, Scapular winging, Scoliosis, Short distal phalanx of finger, Short finger, Short foot, Short metacarpal, Short metatarsal, Short palm, Short phalanx of finger, Short stature, Shortening of all phalanges of fingers, Slow-growing hair, Smooth philtrum, Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Sparse lateral eyebrow, Sparse scalp hair, Swelling of proximal interphalangeal joints, Thick eyebrow, Thin eyebrow, Thin nail, Thin upper lip vermilion, Triangular face, Underdeveloped nasal alae
tRG	SYT11	0.985541276	0	Calcium binding protein	BrainSpLMD|23208	OMIM|608741
tRG	ARHGAP5	0.975418461	0	GTPase activating protein	BrainSpLMD|394	OMIM|602680;COSMIC||colon cancer, glioma
tRG	ETV5	0.959608076	0	Transcription regulatory protein	BrainSpLMD|2119;Eurexp|euxassay_000518|calyces, cranium, incisor, lung, otic capsule, submandibular gland primordium, testis, turbinate bones, ventricular layer;BrainSpMouseDev|68321	OMIM|601600;COSMIC||prostate
tRG	DIXDC1	0.958856381	0	Unclassified	BrainSpLMD|85458	SFARI||Autism, 4 - Minimal evidence;OMIM|610493
tRG	LITAF	0.946641126	0	Transcription factor	BrainSpLMD|9516;Eurexp|euxassay_013657|axial skeleton, incisor, molar, submandibular gland primordium, urethra, ventricular layer, vestibular component, vibrissa	OMIM|603795;HPO|9516|Autosomal dominant inheritance, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Juvenile onset, Onion bulb formation, Pes cavus, Segmental peripheral demyelination/remyelination
tRG	EFNB2	0.941093713	0	Membrane bound ligand	BrainSpLMD|1948;Eurexp|euxassay_018950|bladder, incisor, lung, mantle layer, mesenchyme, metanephros, molar, oesophagus, pericardium, submandibular gland primordium, urethra, ventricular layer, vibrissa;BrainSpMouseDev|13420	OMIM|600527
tRG	FKBP10	0.935905517	0	Unclassified	BrainSpLMD|60681	OMIM|607063;HPO|60681|Abnormality of the skin, Ankle contracture, Aplasia/Hypoplasia of the patella, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Biconcave vertebral bodies, Blue sclerae, Brachycephaly, Coxa vara, Dentinogenesis imperfecta, Elbow flexion contracture, Elevated alkaline phosphatase, Gait disturbance, Hip contracture, Increased susceptibility to fractures, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Protrusio acetabuli, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes, Talipes equinovarus, Triangular face, Vertebral compression fractures, Vertebral wedging, Wormian bones
tRG	HMGCS1	0.931450622	0	Enzyme: Synthase	BrainSpLMD|3157	OMIM|142940
tRG	JAM2	0.920374084	0	Adhesion molecule	BrainSpLMD|58494	OMIM|606870
tRG	TLE4	0.917353809	0	Transcription factor	BrainSpLMD|7091;Eurexp|euxassay_018870|calyces, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|21647	OMIM|605132
tRG	IL33	0.903042235	0	Unclassified	Eurexp|euxassay_011591|capsule, cortex, endolymphatic duct, lip, mesentery, midgut, olfactory, skeletal muscle, utricle	OMIM|608678
tRG	PSAP	0.891705891	0	Integral membrane protein	BrainSpLMD|5660	OMIM|176801;HPO|5660|Abnormality of eye movement, Abnormality of glycosphingolipid metabolism, Abnormality of the periventricular white matter, Anemia, Autosomal recessive inheritance, Babinski sign, CNS demyelination, Central apnea, Cerebral dysmyelination, Congenital onset, Death in childhood, Death in infancy, Decreased nerve conduction velocity, Developmental regression, Dysarthria, Dysphagia, Dystonia, Erlenmeyer flask deformity of the femurs, Fasciculations, Feeding difficulties, Gait ataxia, Generalized clonic seizures, Generalized hypotonia, Generalized tonic-clonic seizures, Global brain atrophy, Global developmental delay, Hepatomegaly, Hepatosplenomegaly, Hyperkinesis, Hyperreflexia, Hypertonia, Hypoplasia of the corpus callosum, Hyporeflexia, Increased CSF protein, Increased cerebral lipofuscin, Infantile onset, Loss of speech, Mental deterioration, Muscle weakness, Muscular hypotonia, Myoclonus, Neuronal loss in central nervous system, Osteopenia, Peripheral demyelination, Polyneuropathy, Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Seizures, Spastic tetraparesis, Splenomegaly, Thrombocytopenia, Urinary incontinence, Variable expressivity
tRG	JUND	0.877151366	0	Transcription factor	BrainSpLMD|3727;BrainSpMouseDev|16251	OMIM|165162
tRG	SRI	0.870420892	0	Calcium binding protein	BrainSpLMD|6717	OMIM|182520
tRG	LDHA	0.868229546	0	Enzyme: Dehydrogenase	BrainSpLMD|3939	OMIM|150000;HPO|3939|Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise intolerance, Increased serum lactate, Increased serum pyruvate, Juvenile onset, Muscle cramps, Muscle stiffness, Myalgia, Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Rigidity
tRG	MAGI1	0.859917554	0	Cell junction protein	BrainSpLMD|9223;Eurexp|euxassay_016214|axial skeleton, clavicle, femur, fibula, humerus, pelvic girdle, rib, scapula, tibia	OMIM|602625
tRG	HSPD1	0.848023021	0	Heat shock protein	BrainSpLMD|3329;BrainSpMouseDev|15285	OMIM|118190;HPO|3329|Apnea, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Choreoathetosis, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hyperreflexia, Impaired vibration sensation in the lower limbs, Intellectual disability, profound, Leukodystrophy, Lower limb muscle weakness, Lower limb spasticity, Neonatal onset, Nystagmus, Postnatal microcephaly, Progressive, Progressive spasticity, Seizures, Spastic gait, Spastic paraplegia, Strabismus, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
tRG	PRDM16	0.847456314	0	Transcription factor	BrainSpLMD|63976	OMIM|605557;COSMIC||MDS, AML;HPO|63976|Abnormal morphology of the left ventricle, Absent speech, Agenesis of corpus callosum, Autism, Autosomal dominant inheritance, Brachycephaly, Brachydactyly, Camptodactyly of finger, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Congestive heart failure, Constipation, Deeply set eye, Delayed cranial suture closure, Depressed nasal bridge, Depressed nasal ridge, Dilated cardiomyopathy, Dysphagia, EEG abnormality, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Gait disturbance, Gastroesophageal reflux, Global developmental delay, High-grade hypermetropia, Horizontal eyebrow, Intellectual disability, Left ventricular noncompaction, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Midface retrusion, Muscular hypotonia, Narrow mouth, Pointed chin, Poor speech, Seizures, Self-injurious behavior, Short foot, Stereotypy, Strabismus, Ventriculomegaly, Wide nasal bridge
tRG	BTG3	0.842447457	0	Cell cycle control protein	BrainSpLMD|10950	OMIM|605674
tRG	PTPRZ1	0.831213515	0	Receptor tyrosine phosphatase	BrainSpLMD|5803;BrainSpMouseDev|19046	OMIM|176891
tRG	11-Sep	0.828553959	0			
tRG	TMEM170A	0.822151866	0	Unclassified	BrainSpLMD|124491	
tRG	SAT1	0.820444626	0	Enzyme: Acyltransferase	BrainSpLMD|6303;Eurexp|euxassay_018693|bladder, incisor, metanephros, olfactory, urethra, vibrissa	OMIM|313020;HPO|6303|Blepharitis, Conjunctivitis, Corneal dystrophy, Dry skin, Dystrophic fingernails, Ectropion, Facial erythema, Follicular hyperkeratosis, Folliculitis, Heterogeneous, Keratitis, Nail dysplasia, Palmoplantar keratoderma, Perifollicular fibrosis, Photophobia, Scarring alopecia of scalp, Sparse and thin eyebrow, Sparse eyelashes, X-linked recessive inheritance
tRG	LHX2	0.816875606	0	Transcription regulatory protein	BrainSpLMD|9355;BrainSpMouseDev|16641	OMIM|603759
tRG	PKM	0.798189097	0	Enzyme: Phosphotransferase	BrainSpLMD|5315	OMIM|179050
tRG	SCD	0.788598955	0	Enzyme: Oxidoreductase	BrainSpLMD|6319;Eurexp|euxassay_012236|adrenal gland, axial skeleton, basal columns, cervico-thoracic, clavicle, dorsal root ganglion, ductus deferens, embryo, facial VII, glossopharyngeal IX, hindgut, incisor, larynx, lens, lobe, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, neural retina, nucleus pulposus, orbito-sphenoid, otic capsule, pancreas, petrous part, pharyngo-tympanic tube, pituitary, rectum, rib, skeletal muscle, stomach, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, turbinate, urethra, vagus X, vault of skull, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|604031
tRG	KLF6	0.784090359	0	Transcription factor	BrainSpLMD|1316;Eurexp|euxassay_018886|mantle layer, marginal layer;BrainSpMouseDev|23602	OMIM|602053;COSMIC||prostate, glioma;HPO|1316|Autosomal dominant inheritance, Prostate cancer, Somatic mutation, Stomach cancer
tRG	SPARC	0.772293249	0	Secreted polypeptide	BrainSpLMD|6678;BrainSpMouseDev|20454	OMIM|182120;HPO|6678|Autosomal recessive inheritance, Decreased muscle mass, Delayed speech and language development, Motor delay, Muscle weakness, Muscular hypotonia, Osteoporosis, Scoliosis, Short stature, Soft skin, Thin metacarpal cortices, Vertebral compression fractures
tRG	CALD1	0.770069756	0	Cytoskeletal associated protein	BrainSpLMD|800	OMIM|114213
tRG	SHISA2	0.769786179	0	Integral membrane protein	BrainSpLMD|387914	OMIM|617324
tRG	CD99	0.761913875	0	Unclassified		OMIM|450000
tRG	TAGLN2P1	0.761509616	0			
tRG	SULT1C4	0.736777858	0	Enzyme: Sulphotransferase	BrainSpLMD|27233	OMIM|608357
tRG	LINC00478	0.729981192	0			
tRG	TSC22D2	0.729387571	0	Unclassified	BrainSpLMD|9819	OMIM|617724
tRG	SOX2	0.715290809	0	Transcription factor	Eurexp|euxassay_019525|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lung, mantle layer, medulla, midgut, neural retina, oesophagus, olfactory, oral epithelium, pituitary, saccule, stomach, testis, trachea, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|20436	OMIM|184429;COSMIC||NSCLC, oesophageal squamous carcinoma, Microphthalmia and oesophageal atresia syndrome;HPO|6657|Agenesis of corpus callosum, Anophthalmia, Anterior pituitary hypoplasia, Autosomal dominant inheritance, Butterfly vertebrae, Cleft palate, Coloboma, Cryptorchidism, Esophageal atresia, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hemivertebrae, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypospadias, Hypothalamic hamartoma, Microcephaly, Micropenis, Microphthalmia, Missing ribs, Nystagmus, Optic nerve hypoplasia, Patent ductus arteriosus, Postnatal growth retardation, Rib fusion, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Short stature, Spastic diplegia, Spastic tetraplegia, Specific learning disability, Strabismus, Supernumerary ribs, Tracheoesophageal fistula, Ventricular septal defect, Vertebral fusion, Vertebral hypoplasia, Visual impairment, Visual loss
tRG	ENO1	0.703551106	0	Enzyme: Hydratase	BrainSpLMD|2023	OMIM|172430
tRG	GPM6B	0.688326932	0	Integral membrane protein	BrainSpLMD|2824;Eurexp|euxassay_011476|intermediate grey horn, mantle layer, marginal layer, ventral grey horn, ventricular layer	OMIM|300051
tRG	CD63	0.681914473	0	Integral membrane protein	BrainSpLMD|967	OMIM|155740
tRG	REV3L	0.673645726	0	DNA polymerase	BrainSpLMD|5980;Eurexp|euxassay_009657|brain, olfactory, spinal cord, vomeronasal organ	OMIM|602776;HPO|5980|Abnormality of the voice, Aplasia of the pectoralis major muscle, Brachydactyly, Corneal opacity, Dysphagia, Everted lower lip vermilion, Facial palsy, Feeding difficulties in infancy, Mask-like facies, Motor delay, Muscular hypotonia, Open mouth, Ophthalmoplegia, Ptosis, Strabismus, Talipes equinovarus
tRG	REST	0.665198583	0	Transcription regulatory protein	BrainSpLMD|5978;BrainSpMouseDev|19475	OMIM|600571;HPO|5978|Abdominal pain, Gingival fibromatosis, Gingival overgrowth, Nephroblastoma
tRG	BICC1	0.641190516	0	RNA binding protein	BrainSpLMD|80114	OMIM|614295
tRG	GSTP1	0.635641798	0	Enzyme: Glutathione transferase	BrainSpLMD|2950;Eurexp|euxassay_006221|lobe	OMIM|134660
tRG	HSPH1	0.621383355	0	Heat shock protein;Chaperone	BrainSpLMD|10808	OMIM|610703
tRG	HSPB1	0.618710235	0	Chaperone	BrainSpLMD|3315	OMIM|602195;HPO|3315|Adult onset, Areflexia, Areflexia of lower limbs, Autosomal dominant inheritance, Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Difficulty walking, Distal amyotrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Distal sensory impairment, EMG: chronic denervation signs, EMG: neuropathic changes, Fasciculations, Foot dorsiflexor weakness, Heterogeneous, Hyporeflexia, Hyporeflexia of lower limbs, Impaired pain sensation, Impaired temperature sensation, Limb fasciculations, Lower limb muscle weakness, Muscle cramps, Paresis of extensor muscles of the big toe, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Reduced tendon reflexes, Slow progression, Split hand, Steppage gait, Talipes equinovarus, Ulnar claw, Upper limb amyotrophy
tRG	CYP51A1	0.602239902	0	Unclassified	BrainSpLMD|1595;Eurexp|euxassay_010645|adrenal gland, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, mandible, maxilla, molar, neural retina, spinal cord, testis, thoracic, trigeminal V, vibrissa	OMIM|601637
tRG	BBX	0.591258219	0	Transcription factor	BrainSpLMD|56987;Eurexp|euxassay_001866|cortex, mantle layer, pituitary, testis, ventricular layer;BrainSpMouseDev|46349	
tRG	HSPE1	0.585279263	0	Heat shock protein	BrainSpLMD|3336	OMIM|600141
tRG	CKS2	0.583445183	0	Cell cycle control protein	BrainSpLMD|1164	OMIM|116901
tRG	CKB	0.55249386	0	Enzyme: Phosphotransferase	BrainSpLMD|1152;Eurexp|euxassay_011493|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lung, mandible, mantle layer, maxilla, midgut, neural retina, oesophagus, olfactory, rectum, sternum, stomach, trigeminal V, ventral grey horn, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ, wall	OMIM|123280
tRG	SKIL	0.543146667	0	Unclassified	BrainSpLMD|6498	OMIM|165340
tRG	NFIA	0.542461637	0	Transcription factor	BrainSpLMD|4774;BrainSpMouseDev|17794	SFARI||Autism, 4 - Minimal evidence;OMIM|600727;HPO|4774|Agenesis of corpus callosum, Anteverted nares, Arnold-Chiari type I malformation, Broad face, Broad forehead, Cognitive impairment, Cutis marmorata, Generalized hypotonia, Global developmental delay, Hydronephrosis, Hypoplasia of the corpus callosum, Inguinal hernia, Intellectual disability, Low-set ears, Macrocephaly, Narrow mouth, Phenotypic variability, Renal hypoplasia, Seizures, Short chin, Short nose, Sporadic, Syringomyelia, Thin upper lip vermilion, Ventriculomegaly, Vesicoureteral reflux
tRG	SCHIP1	0.534932427	0	Unclassified	BrainSpLMD|29970;Eurexp|euxassay_012101|aorta, bladder, brain, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, mantle layer, mesenchyme, metanephros, midgut, molar, neural retina, oesophagus, olfactory, pancreas, primitive seminiferous tubules, spinal cord, stomach, submandibular gland primordium, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vomeronasal organ	
tRG	ZBTB20	0.516245147	0	Transcription factor	BrainSpLMD|26137;BrainSpMouseDev|35770	SFARI||Autism, 3 - Suggestive evidence;OMIM|606025;HPO|26137|Abnormality of the palate, Absent axillary hair, Absent facial hair, Anemia, Anonychia, Autosomal dominant inheritance, Basilar impression, Bilateral cryptorchidism, Bone cyst, Brachycephaly, Broad forehead, Calcification of the auricular cartilage, Cataract, Conductive hearing impairment, Deeply set eye, Developmental regression, Distal amyotrophy, Downslanted palpebral fissures, Downturned corners of mouth, Gait disturbance, Generalized hypotonia, Generalized osteoporosis, Genu valgum, Gynecomastia, Hearing impairment, Hip contracture, Hydrocephalus, Hypogonadism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Increased size of the mandible, Intellectual disability, Irregular vertebral endplates, Knee flexion contracture, Kyphosis, Macrocephaly, Macrotia, Malar flattening, Metatarsus adductus, Midface retrusion, Myopathy, Narrow chest, Narrow iliac wings, Narrow mouth, Neurodegeneration, Osteolysis, Pectus excavatum, Pes cavus, Plagiocephaly, Posterior polar cataract, Posterior scalloping of vertebral bodies, Ptosis, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Sparse scalp hair, Sporadic, Superiorly displaced ears, Synophrys, Thick lower lip vermilion, Truncal obesity
tRG	TOB1	0.514955421	0	Adapter molecule	BrainSpLMD|10140	OMIM|605523
tRG	C1orf61	0.477037106	0	Transcription regulatory protein	BrainSpLMD|10485	
tRG	ERF	0.470052166	0	Cell cycle control protein	BrainSpLMD|2077;BrainSpMouseDev|13653	OMIM|611888;HPO|2077|Abnormal facial shape, Abnormal form of the vertebral bodies, Anteverted nares, Arnold-Chiari malformation, Autosomal dominant inheritance, Brachycephaly, Brachydactyly, Bronchomalacia, Cerebellar hypoplasia, Cognitive impairment, Conductive hearing impairment, Conjunctivitis, Convex nasal ridge, Craniosynostosis, Depressed nasal bridge, Dolichocephaly, External ear malformation, Finger syndactyly, Flat occiput, Frontal bossing, High forehead, Hypertelorism, Hypoplasia of the maxilla, Increased intracranial pressure, Interstitial pulmonary abnormality, Lambdoidal craniosynostosis, Limitation of joint mobility, Low-set, posteriorly rotated ears, Malar flattening, Midface retrusion, Multiple suture craniosynostosis, Muscular hypotonia, Plagiocephaly, Polyhydramnios, Posterior plagiocephaly, Prominent forehead, Proptosis, Ptosis, Recurrent respiratory infections, Retrognathia, Short columella, Skeletal dysplasia, Stomatocytosis, Strabismus, Thick vermilion border, Tracheomalacia, Turricephaly
tRG	NAP1L1	0.448705557	0	Transcription regulatory protein	BrainSpLMD|4673;Eurexp|euxassay_005511|nucleus pulposus	OMIM|164060
tRG	QKI	0.383746394	0	RNA binding protein	BrainSpLMD|9444;Eurexp|euxassay_012259|diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, lens, lung, mandible, mantle layer, marginal layer, maxilla, meninges, midgut, neural retina, orbito-sphenoid, petrous part, skeletal muscle, stomach, submandibular gland primordium, turbinate, vault of skull, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|609590;COSMIC||angiocentric glioma, colorectal cancer
tRG	PPP1CB	0.363527278	0	Serine/threonine phosphatase	BrainSpLMD|5500	OMIM|600590;HPO|5500|Arnold-Chiari type I malformation, Autosomal dominant inheritance, Broad neck, Cafe-au-lait spot, Coarctation of aorta, Craniosynostosis, Cryptorchidism, Dandy-Walker malformation, Delayed skeletal maturation, Delayed speech and language development, Dermal translucency, Downslanted palpebral fissures, Failure to thrive, Freckling, Generalized hypotonia, Global developmental delay, High palate, Hypertelorism, Joint hypermobility, Low-set ears, Mitral regurgitation, Optic nerve hypoplasia, Overfolded helix, Patent ductus arteriosus, Patent foramen ovale, Peripheral pulmonary artery stenosis, Posteriorly rotated ears, Prominent forehead, Pulmonic stenosis, Right bundle branch block, Short neck, Short stature, Slow-growing hair, Sparse hair, Thickened helices, Ventricular septal defect, Webbed neck
tRG	CCND2	0.356593271	0	Cell cycle control protein	BrainSpLMD|894	OMIM|123833;COSMIC||NHL, CLL;HPO|894|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Congenital onset, Depressed nasal bridge, Global developmental delay, High forehead, Hydrocephalus, Hypertelorism, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Prominent forehead, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
tRG	B2M	0.347632189	0	MHC complex protein	BrainSpLMD|567	OMIM|109700;COSMIC||DLBCL, melanoma, colorectal adenocarcinoma, Immunodeficiency 43;HPO|567|Autonomic bladder dysfunction, Autonomic dysregulation, Autosomal dominant inheritance, Autosomal recessive inheritance, Bowel incontinence, Bronchiectasis, Cholestasis, Chronic constipation, Chronic diarrhea, Edema, Gastrointestinal dysmotility, Gastrointestinal hemorrhage, Generalized amyloid deposition, Hematuria, Hepatomegaly, Hypertension, Hypoalbuminemia, Hypoplasia of the ulna, Hypoproteinemia, IgG deficiency, Intermittent diarrhea, Keratoconjunctivitis sicca, Malabsorption, Nephropathy, Nephrotic syndrome, Orthostatic hypotension due to autonomic dysfunction, Proteinuria, Radial bowing, Recurrent respiratory infections, Skin rash, Splenomegaly, Variable expressivity, Vertigo, Weight loss, Xerostomia
tRG	EEF1A1	0.304656643	0	Transcription regulatory protein	BrainSpLMD|1915	OMIM|130590
tRG	ACTG1	0.303877722	0	Structural protein	BrainSpLMD|71	OMIM|102560;HPO|71|Abnormality of the pinna, Aphasia, Autosomal dominant inheritance, Bilateral sensorineural hearing impairment, Cerebral cortical hemiatrophy, Coarse facial features, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Dysphasia, Echolalia, Epicanthus, Euryblepharon, Failure to thrive, Feeding difficulties, Full cheeks, Global developmental delay, Growth delay, Heterochromia iridis, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypertelorism, Intellectual disability, Iris coloboma, Joint stiffness, Large fontanelles, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Low posterior hairline, Macrogyria, Microcephaly, Micrognathia, Mutism, Osteochondrosis, Pachygyria, Pointed chin, Polymicrogyria, Progressive sensorineural hearing impairment, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Seizures, Short columella, Short neck, Skeletal dysplasia, Specific learning disability, Subcortical cerebral atrophy, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Trigonocephaly, Wide mouth, Wide nasal bridge, Wide nose, Young adult onset
tRG	MIR29B1	1.871288071	1.11E-16			OMIM|610783
tRG	EEPD1	1.728885355	1.11E-16	DNA binding protein	BrainSpLMD|80820;Eurexp|euxassay_002552|dorsal root ganglion, facial VII, orbito-sphenoid, trigeminal V	OMIM|617192
tRG	NAPEPLD	1.655767501	1.11E-16	Enzyme: Phospholipase	BrainSpLMD|222236	OMIM|612334
tRG	ANXA1	1.481905128	1.11E-16	Calcium binding protein	BrainSpLMD|301;Eurexp|euxassay_004813|clavicle, epidermis, fundus region, left lung, mandible, oesophagus, oral epithelium, rib, right lung, stomach, submandibular gland primordium, thyroid, trachea, urethra, ventricular layer, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|151690
tRG	S1PR1	1.37815453	1.11E-16	G protein coupled receptor	BrainSpLMD|1901;BrainSpMouseDev|13387	OMIM|601974
tRG	PER2	1.261503903	1.11E-16	DNA binding protein	BrainSpLMD|8864;Eurexp|euxassay_019474|adrenal gland, larynx, lung, metanephros, olfactory, pancreas, rectum, stomach, testis, thyroid, trachea, urethra, ventricular layer;BrainSpMouseDev|18393	SFARI||Autism, 3 - Suggestive evidence;OMIM|603426;HPO|8864|Autosomal dominant inheritance, Depressivity, Sleep-wake cycle disturbance
tRG	PHGDH	1.254933641	1.11E-16	Enzyme: Dehydrogenase	BrainSpLMD|26227	OMIM|606879;HPO|26227|Ablepharon, Abnormality of the philtrum, Absent eyelashes, Absent septum pellucidum, Adducted thumb, Agenesis of corpus callosum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Bifid uterus, Broad foot, Calcaneovalgus deformity, Camptodactyly, Cataract, Cerebellar hypoplasia, Cerebral dysmyelination, Choroid plexus cyst, Cleft palate, Cleft upper lip, Clinodactyly, Congenital cataract, Congenital microcephaly, Cryptorchidism, Dandy-Walker malformation, Decreased fetal movement, Decreased testicular size, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Finger syndactyly, Generalized edema, Growth delay, Hydranencephaly, Hypertelorism, Hypogonadism, Hypsarrhythmia, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Lack of skin elasticity, Large hands, Lissencephaly, Macrogyria, Macrotia, Megaloblastic anemia, Microcephaly, Micrognathia, Micromelia, Microphthalmia, Muscle cramps, Muscular dystrophy, Nystagmus, Opisthotonus, Pachygyria, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Polymicrogyria, Proptosis, Pterygium, Pulmonary hypoplasia, Radial deviation of finger, Renal agenesis, Rocker bottom foot, Seizures, Short neck, Short umbilical cord, Skeletal muscle atrophy, Sloping forehead, Small placenta, Spastic tetraplegia, Spina bifida, Stillbirth, Thick lower lip vermilion, Thick vermilion border, Thrombocytopenia, Toe syndactyly, Transposition of the great arteries, Trismus, Ventricular septal defect, Yellow subcutaneous tissue covered by thin, scaly skin
tRG	LIMA1	1.189511379	1.11E-16	Cytoskeletal protein	BrainSpLMD|51474	OMIM|608364
tRG	SLC3A2	1.126799153	1.11E-16	Membrane transport protein	BrainSpLMD|6520;Eurexp|euxassay_007752|incisor, liver, mantle layer, meninges, midgut, molar, submandibular gland primordium, thymus primordium, vibrissa	OMIM|158070
tRG	APOL2	1.031062579	1.11E-16	Integral membrane protein;Transport/cargo protein	BrainSpLMD|23780;Eurexp|euxassay_010310|liver	OMIM|607252
tRG	SLC16A1	0.931651307	1.11E-16	Membrane transport protein	BrainSpLMD|6566;Eurexp|euxassay_003351|Meckel's cartilage, axial muscle, capsule, clavicle, epidermis, foregut-midgut junction, glomeruli, hindgut, incisor, left lung, lobe, loop, marginal layer, meninges, midgut, molar, nasal septum, olfactory, pancreas, rectum, right lung, submandibular gland primordium, testis, thymus primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|600682;HPO|6566|Autosomal dominant inheritance, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise-induced muscle cramps, Exercise-induced muscle fatigue, Exercise-induced muscle stiffness, Feeding difficulties, Global developmental delay, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability, Ketoacidosis, Ketotic hypoglycemia, Pancreatic islet-cell hyperplasia
tRG	SMAD5	0.905257011	1.11E-16	Transcription regulatory protein	BrainSpLMD|4090;Eurexp|euxassay_019553|incisor, lung, mantle layer, metanephros, molar, saccule, spleen primordium, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|16899	OMIM|603110
tRG	SNCAIP	0.853508236	1.11E-16	Unclassified	BrainSpLMD|9627	OMIM|603779;HPO|9627|Bradykinesia, Constipation, Dementia, Depressivity, Dysarthria, Dysphagia, Dystonia, Insidious onset, Lewy bodies, Mask-like facies, Neuronal loss in central nervous system, Parkinsonism, Personality changes, Postural instability, Progressive, Resting tremor, Rigidity, Short stepped shuffling gait, Sleep disturbance, Sporadic, Substantia nigra gliosis, Urinary urgency, Weak voice
tRG	AC253572.1	0.820427571	1.11E-16			
tRG	HMGN3	0.778492962	1.11E-16	DNA binding protein	BrainSpLMD|9324;Eurexp|euxassay_010528|lens, olfactory;BrainSpMouseDev|60980	OMIM|604502
tRG	EEF1D	0.740199459	1.11E-16	Guanine nucleotide exchange factor	BrainSpLMD|1936	OMIM|130592
tRG	PAG1	0.734197378	1.11E-16	Adapter molecule	BrainSpLMD|55824	OMIM|605767
tRG	SLITRK2	0.48855071	1.11E-16	Integral membrane protein	BrainSpLMD|84631;Eurexp|euxassay_012159|dorsal root ganglion, facial VII, glossopharyngeal IX, marginal layer, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|300561
tRG	RHOA	0.601906244	2.22E-16	GTPase	BrainSpLMD|387;BrainSpMouseDev|11635	OMIM|165390;COSMIC||diffuse gastric, T cell lymphomas, paediatric Burkitt lymphoma
tRG	GOLIM4	0.430338061	2.22E-16	Integral membrane protein	BrainSpLMD|27333	OMIM|606805
tRG	MSN	0.977952634	3.33E-16	Cytoskeletal protein	BrainSpLMD|4478;Eurexp|euxassay_009365|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, organ system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	SFARI||Autism, 5 - Hypothesized but untested;OMIM|309845;COSMIC||ALCL;HPO|4478|Decreased antibody level in blood, Eczema, Lymphopenia, Recurrent respiratory infections, Recurrent urinary tract infections, X-linked recessive inheritance
tRG	SMC5	0.787983371	3.33E-16	Unclassified	BrainSpLMD|23137	OMIM|609386
tRG	PDGFD	1.45438791	4.44E-16	Growth factor	BrainSpLMD|80310;BrainSpMouseDev|47626	OMIM|609673
tRG	SNTG1	1.201132161	4.44E-16	Adapter molecule	BrainSpLMD|54212	OMIM|608714
tRG	MPP5	1.192837636	4.44E-16	Unclassified	BrainSpLMD|64398	OMIM|606958
tRG	NAMPT	0.956571569	4.44E-16	Cytokine	BrainSpLMD|10135;Eurexp|euxassay_004817|axial muscle	OMIM|608764
tRG	CANX	0.76334731	4.44E-16	Chaperone	BrainSpLMD|821	OMIM|114217
tRG	THBS2	1.797605146	5.55E-16	Extracellular matrix protein	BrainSpLMD|7058	OMIM|188061
tRG	ETF1	0.815826952	5.55E-16	Translation regulatory protein	BrainSpLMD|2107	OMIM|600285
tRG	VCAN	0.609265548	5.55E-16	Extracellular matrix protein	BrainSpLMD|1462	OMIM|118661;HPO|1462|Autosomal dominant inheritance, Cataract, Chorioretinal atrophy, Glaucoma, Myopia, Optic atrophy, Optically empty vitreous, Peripheral traction retinal detachment, Retinal pigment epithelial atrophy, Visual field defect, Visual loss, Vitreoretinal degeneration
tRG	HSPD1P1	0.572919816	5.55E-16			
tRG	AEBP2	0.470688937	5.55E-16	DNA binding protein	BrainSpLMD|121536;Eurexp|euxassay_014332|footplate, handplate, thymus primordium, ventricular layer;BrainSpMouseDev|11356	
tRG	DFNB31	1.272852383	6.66E-16			
tRG	STAT3	0.868565627	6.66E-16	Transcription factor	BrainSpLMD|6774;Eurexp|euxassay_004868|axial skeleton, choroid invagination, dorsal grey horn, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mantle layer, mesenchyme, metatarsus, phalanx, thymus primordium, trigeminal V, ventral grey horn, ventricular layer;BrainSpMouseDev|20610	OMIM|102582;COSMIC||T-cell large granular lymphocytic leukaemia, paediatric large granular lymphocytic leukaemia, IPEX-like syndrome;HPO|6774|Abnormal heart morphology, Abnormality of the hair, Arthrogryposis multiplex congenita, Atelectasis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Autosomal dominant inheritance, Bilateral ptosis, Celiac disease, Chronic otitis media, Cleft palate, Coarse facial features, Contractures of the joints of the lower limbs, Cough, Decreased antibody level in blood, Deeply set eye, Dehydration, Delayed eruption of teeth, Downturned corners of mouth, Dystrophic fingernails, Eczema, Eczematoid dermatitis, Eosinophilia, Failure to thrive, Frontal bossing, Generalized abnormality of skin, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Gingivitis, Global developmental delay, Glycosuria, High palate, Hyperglycemia, Hypertelorism, Hypovolemia, Increased IgE level, Infantile onset, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Ketonuria, Microalbuminuria, Motor delay, Neonatal insulin-dependent diabetes mellitus, Osteopenia, Papule, Paronychia, Persistence of primary teeth, Prominent forehead, Prominent metopic ridge, Pruritus, Recurrent Staphylococcus aureus infections, Recurrent fractures, Recurrent fungal infections, Recurrent respiratory infections, Recurrent sinopulmonary infections, Reduced pancreatic beta cells, Retinopathy, Scoliosis, Short stature, Skin rash, Skin ulcer, Weight loss, Wide nasal bridge, Wide nose
tRG	KIAA1217	0.763130108	6.66E-16	Unclassified	BrainSpLMD|56243;Eurexp|euxassay_002039|ventricular layer	OMIM|617367
tRG	PDPN	1.35107171	7.77E-16	Water channel	BrainSpLMD|10630;Eurexp|euxassay_002001|axial skeleton, submandibular gland primordium, ventricular layer;BrainSpMouseDev|14502	OMIM|608863
tRG	ALDOA	0.744557887	7.77E-16	Enzyme: Lyase;Enzyme: Aldolase	BrainSpLMD|226	OMIM|103850;HPO|226|Autosomal recessive inheritance, Cholecystitis, Cholelithiasis, Delayed puberty, Epicanthus, Jaundice, Low posterior hairline, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Ptosis, Short neck, Short stature, Splenomegaly
tRG	PDCD4	0.796524932	8.88E-16	Unclassified	BrainSpLMD|27250;Eurexp|euxassay_010730|epidermis, epithelium, floor plate, floorplate, larynx, olfactory, sternum, thymus primordium, urethra, ventricular layer	OMIM|608610
tRG	ZIC5	0.994262455	1.11E-15	DNA binding protein	BrainSpLMD|85416;BrainSpMouseDev|41618	
tRG	REXO2	0.757147241	1.11E-15	Ribonuclease	BrainSpLMD|25996	OMIM|607149
tRG	CTNNB1	0.599948735	1.11E-15	Adhesion molecule	BrainSpLMD|1499;BrainSpMouseDev|12172	SFARI||Autism, 3 - Suggestive evidence;OMIM|116806;COSMIC||colorectal, ovarian, hepatoblastoma, pleomorphic salivary gland adenoma, other tumour types;HPO|1499|Abdominal pain, Abnormal hypothalamus morphology, Abnormal visual field test, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Autosomal dominant inheritance, Autosomal recessive inheritance, Bitemporal hemianopia, Breast carcinoma, Central adrenal insufficiency, Central diabetes insipidus, Cerebral calcification, Desmoid tumors, Dysgerminoma, Elevated alpha-fetoprotein, Enlarged pituitary gland, Epigastric pain, Excessive daytime somnolence, Fatigue, Generalized hypotonia, Global developmental delay, Headache, Hepatic fibrosis, Hepatic necrosis, Hepatocellular carcinoma, Hepatomegaly, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hypogonadotrophic hypogonadism, Hypoplasia of the corpus callosum, Incomplete penetrance, Infantile onset, Intellectual disability, Intestinal polyposis, Intracranial cystic lesion, Long philtrum, Malabsorption, Medulloblastoma, Microcephaly, Micronodular cirrhosis, Myalgia, Nausea and vomiting, Neoplasm of the anterior pituitary, Neoplasm of the stomach, Neurological speech impairment, Obesity, Ovarian papillary adenocarcinoma, Papilledema, Pilomatrixoma, Pituitary hypothyroidism, Portal vein thrombosis, Progressive visual field defects, Prolactin excess, Renal cell carcinoma, Slow decrease in visual acuity, Somatic mutation, Spastic diplegia, Strabismus, Subacute progressive viral hepatitis, Subcutaneous nodule, Thin upper lip vermilion, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Vomiting
tRG	HMGCR	0.837926343	1.33E-15	Enzyme: Reductase	BrainSpLMD|3156;Eurexp|euxassay_004330|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nucleus pulposus, spinal cord, thoracic, trigeminal V, vagus X	OMIM|142910
tRG	RP11.436D23.1	0.295554647	1.33E-15			
tRG	SLC2A3	0.750203631	1.44E-15	Membrane transport protein	BrainSpLMD|6515	OMIM|138170;HPO|6515|Abnormality of movement, Abnormality of the voice, Behavioral abnormality, Cerebral cortical atrophy, Dementia, Developmental regression, EEG abnormality, Spasticity
tRG	NCAN	1.063315622	1.55E-15	Extracellular matrix protein	BrainSpLMD|1463;Eurexp|euxassay_015922|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, intermediate grey horn, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, ventral grey horn, vestibulocochlear VIII	OMIM|600826
tRG	STAG2	0.654721897	1.55E-15	Cell cycle control protein	BrainSpLMD|10735;Eurexp|euxassay_016892|ventricular layer	OMIM|300826;COSMIC||bladder carcinoma, glioblastoma, melanoma, Ewing's sarcoma, myeloid neoplasms
tRG	THBS3	1.517819738	1.67E-15	Extracellular matrix protein	BrainSpLMD|7059;Eurexp|euxassay_010545|brain, mesenchyme, spinal cord;BrainSpMouseDev|21586	OMIM|188062
tRG	MAPK1IP1L	0.550602519	1.67E-15	Unclassified	BrainSpLMD|93487	OMIM|617226
tRG	TGIF1	1.434653035	1.78E-15	Transcription factor	BrainSpLMD|7050;Eurexp|euxassay_007804|cortex, fundus region, hindgut, lung, midgut, oesophagus, rectum, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|21574	OMIM|602630;HPO|7050|Absent nasal septal cartilage, Autosomal dominant inheritance, Depressed nasal bridge, Depressed nasal tip, Hypotelorism, Median cleft lip, Median cleft lip and palate, Ptosis, Semilobar holoprosencephaly
tRG	TMBIM6	0.614730155	1.78E-15	Integral membrane protein	BrainSpLMD|7009	OMIM|600748
tRG	ADAM33	1.953667887	1.89E-15	Metallo protease	BrainSpLMD|80332	OMIM|607114
tRG	MFAP2	0.588047424	1.89E-15	Extracellular matrix protein	BrainSpLMD|4237;Eurexp|euxassay_002967|skeleton	OMIM|156790
tRG	CRIM1	0.598055115	2.22E-15	Integral membrane protein	BrainSpLMD|51232;Eurexp|euxassay_014038|lens, mantle layer, physiological umbilical hernia, ventral grey horn, vibrissa	OMIM|606189
tRG	TAF13	0.701298588	2.44E-15	Transcription factor	BrainSpLMD|6884;Eurexp|euxassay_001598|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, submandibular gland primordium, trigeminal V, vagus X;BrainSpMouseDev|63900	OMIM|600774;HPO|6884|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Delayed puberty, Delayed skeletal maturation, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Small for gestational age, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vesicoureteral reflux
tRG	LGALS3BP	1.783081428	2.55E-15	Extracellular matrix protein	BrainSpLMD|3959;Eurexp|euxassay_002816|axial muscle, choroid plexus, foregut-midgut junction, hindgut, integumental system, lateral recess, lobe, midgut, pancreas, rectum, renal/urinary system, stomach, thymus primordium	OMIM|600626
tRG	MSI1	0.278084693	2.78E-15	RNA binding protein	BrainSpLMD|4440	OMIM|603328
tRG	ZYX	1.222445392	3.00E-15	Adhesion molecule	BrainSpLMD|7791;Eurexp|euxassay_010280|lobe, mesenchyme, skeletal muscle, vertebral axis muscle system	OMIM|602002
tRG	YAP1	1.149047141	3.55E-15	Transcription regulatory protein	BrainSpLMD|10413	OMIM|606608;HPO|10413|Autosomal dominant inheritance, Bilateral cleft lip and palate, Chorioretinal coloboma, Hematuria, Intellectual disability, Iris coloboma, Microphthalmia, Sensorineural hearing impairment
tRG	PBXIP1	1.205390383	3.89E-15	Transcription regulatory protein	BrainSpLMD|57326;Eurexp|euxassay_012529|choroid invagination, choroid plexus, diaphragm, floor plate, floorplate, midgut, skeletal muscle, stomach, ventricle, ventricular layer;BrainSpMouseDev|86886	
tRG	MBNL2	0.917790981	4.00E-15	RNA binding protein	BrainSpLMD|10150;Eurexp|euxassay_005986|cerebral cortex, dorsal root ganglion, embryo, forebrain, glossopharyngeal IX, lung, midbrain, oesophagus, trigeminal V, vagus X	OMIM|607327
tRG	WWC1	1.513615104	4.11E-15	Unclassified	BrainSpLMD|23286	OMIM|610533
tRG	CH17.449C21.1	0.515291457	4.11E-15			
tRG	LINC01158	0.279697755	4.11E-15			
tRG	HSPA8	0.470060743	4.44E-15	Heat shock protein	BrainSpLMD|3312	OMIM|600816
tRG	DNAJC3	0.716917739	5.33E-15	Translation regulatory protein	BrainSpLMD|5611	OMIM|601184;HPO|5611|Atrophy/Degeneration affecting the brainstem, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Sensorineural hearing impairment, Short stature, Type I diabetes mellitus
tRG	GRHPR	0.86495048	5.66E-15	Enzyme: Reductase	BrainSpLMD|9380;Eurexp|euxassay_000601|adrenal gland	OMIM|604296;HPO|9380|Aminoaciduria, Autosomal recessive inheritance, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Variable expressivity
tRG	CTH	1.087612087	7.66E-15	Cysteine protease	BrainSpLMD|1491;Eurexp|euxassay_000513|axial skeleton, cranium, head mesenchyme, incisor, oesophagus, otic capsule, turbinate bones	OMIM|607657;HPO|1491|Autosomal recessive inheritance, Cystathioninuria
tRG	ALDH6A1	0.737646544	7.66E-15	Enzyme: Dehydrogenase	BrainSpLMD|4329;Eurexp|euxassay_018815|choroid invagination, naris, nasal septum, otic capsule, turbinate bones, ventricular layer	OMIM|603178;HPO|4329|Abnormal facial shape, Autosomal recessive inheritance, Bulbous nose, Cataract, Delayed myelination, Depressed nasal bridge, Downslanted palpebral fissures, Dystonia, Epicanthus, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Long philtrum, Metabolic acidosis, Microcephaly, Microphthalmia, Muscular hypotonia, Phenotypic variability, Short nose, Tented upper lip vermilion
tRG	AP000962.2	0.945958639	7.99E-15			
tRG	CASP3	1.274509396	8.22E-15	Cysteine protease	BrainSpLMD|836;Eurexp|euxassay_018739|mantle layer, olfactory, vomeronasal organ;BrainSpMouseDev|12152	OMIM|600636
tRG	NFATC2	2.334286775	1.02E-14	Transcription factor	BrainSpLMD|4773;Eurexp|euxassay_013856|lip;BrainSpMouseDev|17786	OMIM|600490;COSMIC||Ewing sarcoma
tRG	TPI1	0.61550713	1.19E-14	Enzyme: Isomerase	BrainSpLMD|7167	OMIM|190450;HPO|7167|Abnormality of immune system physiology, Autosomal recessive inheritance, Central nervous system degeneration, Cholecystitis, Cholelithiasis, Chronic hemolytic anemia, Congestive heart failure, Diaphragmatic paralysis, Dystonia, Generalized hypotonia, Global developmental delay, Hemolytic anemia, Hyporeflexia, Jaundice, Kyphosis, Muscular hypotonia, Myopathy, Normochromic anemia, Normocytic anemia, Peripheral neuropathy, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Splenomegaly, Tremor, Unsteady gait
tRG	LINC00998	1.163156935	1.20E-14			
tRG	NKAIN3	1.313970257	1.21E-14	Unclassified	BrainSpLMD|286183	OMIM|612872
tRG	TKTL1	2.14247108	1.29E-14	Enzyme: Transketolase	BrainSpLMD|8277	OMIM|300044
tRG	MGAT4C	0.758131971	1.29E-14	Enzyme: Glucosaminyltransferase	BrainSpLMD|25834	OMIM|607385
tRG	PSPH	1.02604345	1.55E-14	Serine/threonine phosphatase	BrainSpLMD|5723;Eurexp|euxassay_007810|calyces, left, right, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|172480;HPO|5723|Autosomal recessive inheritance, Global developmental delay, Hypertonia, Infantile onset, Intellectual disability, Intrauterine growth retardation, Postnatal growth retardation, Seizures
tRG	LOX	1.05088658	1.68E-14	Enzyme: Oxidase	BrainSpLMD|4015	OMIM|153455;HPO|4015|Abnormality of the iris, Aortic regurgitation, Ascending aortic dissection, Autosomal dominant inheritance, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Exertional dyspnea, Hypertension, Left ventricular failure, Paroxysmal dyspnea
tRG	HSPE1P2	0.356991591	1.75E-14			
tRG	CTNND1	0.681164485	1.92E-14	Adhesion molecule	BrainSpLMD|1500;BrainSpMouseDev|12173	OMIM|601045;COSMIC||large intestine carcinoma
tRG	FGFR3	0.941163388	2.34E-14	Receptor tyrosine kinase;Tyrosine kinase	BrainSpLMD|2261;Eurexp|euxassay_006120|embryo;BrainSpMouseDev|13961	OMIM|134934;COSMIC||bladder, MM, T-cell lymphoma, Hypochondroplasia, Thanatophoric dysplasia;HPO|2261|2-3 finger syndactyly, Abnormal form of the vertebral bodies, Abnormality of femur morphology, Abnormality of lower limb joint, Abnormality of metabolism/homeostasis, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the cervical spine, Abnormality of the clavicle, Abnormality of the elbow, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the ribs, Absence of Stensen duct, Absent lacrimal punctum, Absent proximal phalanx of thumb, Absent radius, Acanthosis nigricans, Alacrima, Anteverted nares, Aplasia of the parotid gland, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the mandible, Aplasia/hypoplasia of the extremities, Arachnodactyly, Arnold-Chiari malformation, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bilateral triphalangeal thumbs, Blepharospasm, Bowing of the long bones, Brachycephaly, Brachydactyly, Brain atrophy, Brain stem compression, Broad femoral metaphyses, Broad forehead, Broad hallux, Camptodactyly of finger, Camptodactyly of toe, Capitate-hamate fusion, Carious teeth, Carpal synostosis, Central apnea, Childhood onset short-limb short stature, Choanal atresia, Chronic otitis media, Clinodactyly, Clinodactyly of the 5th finger, Cloverleaf skull, Cognitive impairment, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Conical incisor, Convex nasal ridge, Corneal perforation, Coronal craniosynostosis, Coronal hypospadias, Craniosynostosis, Cryptorchidism, Cupped ear, Dacryocystitis, Decreased fetal movement, Delayed cranial suture closure, Delayed eruption of primary teeth, Dental crowding, Dental malocclusion, Depressed nasal bridge, Diaphyseal thickening, Downslanted palpebral fissures, Enlarged cerebellum, Excessive wrinkled skin, External ear malformation, Facial asymmetry, Femoral bowing, Fibular bowing, Finger syndactyly, Flared metaphysis, Flat face, Frontal bossing, Generalized joint laxity, Generalized seizures, Genu varum, Global developmental delay, Gonadal dysgenesis, Hearing impairment, Hereditary nonpolyposis colorectal carcinoma, Heterotopia, High forehead, High palate, High, narrow palate, Hydrocephalus, Hyperextensible skin, Hyperhidrosis, Hyperlordosis, Hypertelorism, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the corpus callosum, Hypoplasia of the lacrimal puncta, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic ilia, Hypoplastic lacrimal duct, Increased intracranial pressure, Increased nuchal translucency, Increased vertebral height, Infantile muscular hypotonia, Inflammatory abnormality of the eye, Intellectual disability, Intellectual disability, profound, Intellectual disability, severe, Intrauterine growth retardation, Joint contracture of the hand, Joint hyperflexibility, Kyphosis, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Lethal short-limbed short stature, Limited elbow extension, Limited hip extension, Long thorax, Low anterior hairline, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Macrocephaly, Malar flattening, Megalencephaly, Melanocytic nevus, Mesomelia, Metaphyseal chondrodysplasia, Metaphyseal irregularity, Microcephaly, Micromelia, Microtia, Midface retrusion, Mixed hearing impairment, Motor delay, Muscular hypotonia, Narrow chest, Narrow internal auditory canal, Narrow palate, Narrow sacroiliac notch, Nasolacrimal duct obstruction, Neonatal death, Neonatal short-limb short stature, Neoplasm, Neoplasm of the stomach, Nephrosclerosis, Numerous nevi, Obesity, Obstructive sleep apnea, Open bite, Osteochondroma, Otitis media, Partial duplication of thumb phalanx, Pectus excavatum, Periorbital fullness, Plagiocephaly, Platyspondyly, Polyhydramnios, Preaxial polydactyly, Prominent crus of helix, Prominent nasal bridge, Proptosis, Ptosis, Radial deviation of finger, Radial deviation of the 3rd finger, Recurrent corneal erosions, Recurrent otitis media, Redundant skin, Renal agenesis, Renal cell carcinoma, Respiratory insufficiency, Rhizomelia, Scoliosis, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe platyspondyly, Severe short stature, Short femoral neck, Short femur, Short foot, Short long bone, Short middle phalanx of finger, Short middle phalanx of toe, Short palm, Short ribs, Short sacroiliac notch, Short stature, Short thorax, Short toe, Skeletal dysplasia, Sleep apnea, Small abnormally formed scapulae, Small face, Small foramen magnum, Small thenar eminence, Somatic mutation, Spinal stenosis with reduced interpedicular distance, Split hand, Sporadic, Strabismus, Tall stature, Tarsal synostosis, Telecanthus, Teratoma, Thimble-shaped middle phalanges of hand, Tibial bowing, Transitional cell carcinoma of the bladder, Trident hand, Turricephaly, Underdeveloped supraorbital ridges, Upper airway obstruction, Uterine leiomyosarcoma, Ventriculomegaly, Visual field defect, Wide anterior fontanel, Wide-cupped costochondral junctions, Wormian bones, Xerostomia
tRG	PAICS	0.554922539	2.49E-14	Enzyme: Carboxylase	BrainSpLMD|10606;Eurexp|euxassay_018936|marginal layer, nucleus pulposus, submandibular gland primordium, ventricular layer, vibrissa	OMIM|172439
tRG	NEAT1	0.576190065	2.59E-14			OMIM|612769
tRG	DNAJB1	0.82034626	2.60E-14	Heat shock protein	BrainSpLMD|3337	OMIM|604572;COSMIC||fibrolamellar hepatocellular carcinoma
tRG	TRIM2	0.593291308	2.69E-14	Unclassified	BrainSpLMD|23321;Eurexp|euxassay_008433|anterior, bladder, brain, cervical, cervico-thoracic, epithelium, facial VII, glossopharyngeal IX, hindgut, larynx, left lung, lens, mesenchyme, mesentery, metanephros, midgut, naso-lacrimal duct, neural retina, olfactory, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thoracic, trachea, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|614141;HPO|23321|Areflexia, Autosomal recessive inheritance, Broad-based gait, Decreased muscle mass, Decreased number of peripheral myelinated nerve fibers, Generalized hypotonia, Knee flexion contracture, Muscle weakness, Peripheral axonal neuropathy, Pes cavus, Respiratory insufficiency, Talipes equinovarus, Tracheomalacia, Vocal cord paralysis
tRG	RP11.138A9.1	1.712365353	2.80E-14			
tRG	FAM219A	1.296645255	2.86E-14	Unclassified	BrainSpLMD|203259	
tRG	COL27A1	1.511578795	3.13E-14	Extracellular matrix protein	BrainSpLMD|85301;Eurexp|euxassay_016233|Meckel's cartilage, axial skeleton, clavicle, cricoid, exoccipital bone, femur, fibula, hyoid bone, lung, mesenchyme, metatarsus, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, rib, sternum, temporal bone, thyroid, tibia, trachea, turbinate, vibrissa	OMIM|608461;HPO|85301|Autosomal recessive inheritance, Dislocated radial head, Hypertelorism, Prominent forehead, Scoliosis, Short stature, Wide nasal bridge
tRG	CRYZ	1.468356434	3.23E-14	Enzyme: Oxidoreductase	BrainSpLMD|1429	OMIM|123691
tRG	LRRC17	1.602389837	3.31E-14	Unclassified	BrainSpLMD|10234	
tRG	LLNLF.187D8.1	0.631087613	4.41E-14			
tRG	CHD1	0.53445669	4.76E-14	DNA binding protein	BrainSpLMD|1105	OMIM|602118
tRG	RAB31	1.490434369	5.07E-14	GTPase	BrainSpLMD|11031;Eurexp|euxassay_003248|axial muscle, basal plate, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, submandibular gland primordium, thoracic, trigeminal V, vagus X, vibrissa	OMIM|605694
tRG	CSRNP1	1.356776251	5.07E-14	Unclassified	BrainSpLMD|64651	OMIM|606458
tRG	ABAT	0.510244876	5.22E-14	Enzyme: Aminotransferase	BrainSpLMD|18;Eurexp|euxassay_001907|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, thymus primordium, trigeminal V, ventricular layer;BrainSpMouseDev|92603	SFARI||Autism, 4 - Minimal evidence;OMIM|137150;HPO|18|Agenesis of corpus callosum, Autosomal recessive inheritance, Cerebellar hypoplasia, Death in childhood, Downslanted palpebral fissures, Global developmental delay, High-pitched cry, Hyperreflexia, Lethargy, Leukodystrophy, Posterior fossa cyst, Retrognathia, Seizures, Severe muscular hypotonia, Tall stature
tRG	TOB2	0.804187861	5.25E-14	Cell cycle control protein	BrainSpLMD|10766;Eurexp|euxassay_002023|Meckel's cartilage, orbito-sphenoid	OMIM|607396
tRG	FGFR2	1.013953479	5.30E-14	Receptor tyrosine kinase	BrainSpLMD|2263;BrainSpMouseDev|13960	OMIM|176943;COSMIC||gastric, NSCLC, endometrial, Crouzon, Pfeiffer, and Apert syndromes;HPO|2263|2-3 finger syndactyly, 2-3 toe syndactyly, Abnormal facial shape, Abnormal heart morphology, Abnormal morphology of the limbic system, Abnormal renal morphology, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the cervical spine, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the palate, Abnormality of the pancreas, Abnormality of the periosteum, Abnormality of the pinna, Abnormality of the ribs, Absence of Stensen duct, Absent first metatarsal, Absent lacrimal punctum, Absent proximal phalanx of thumb, Absent radius, Absent septum pellucidum, Acanthosis nigricans, Acne, Acrobrachycephaly, Agenesis of corpus callosum, Alacrima, Anomalous tracheal cartilage, Anteriorly placed anus, Anteverted nares, Aplasia of the parotid gland, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Arachnodactyly, Arachnoid cyst, Arnold-Chiari malformation, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bicoronal synostosis, Bifid scrotum, Bifid uvula, Bilateral single transverse palmar creases, Bilateral triphalangeal thumbs, Blepharospasm, Brachycephaly, Brachydactyly, Brachyturricephaly, Breast carcinoma, Broad distal hallux, Broad distal phalanx of the thumb, Broad forehead, Broad hallux, Broad hallux phalanx, Broad metatarsal, Broad thumb, Bronchomalacia, Buphthalmos, Calcaneonavicular fusion, Camptodactyly, Camptodactyly of finger, Carious teeth, Cartilaginous trachea, Cerebellar hypoplasia, Cervical C5/C6 vertebrae fusion, Choanal atresia, Choanal stenosis, Chronic otitis media, Cleft of chin, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Cloverleaf skull, Conductive hearing impairment, Congenital stationary night blindness, Conical incisor, Conjunctivitis, Convex nasal ridge, Corneal perforation, Coronal craniosynostosis, Coronal hypospadias, Craniofacial dysostosis, Craniosynostosis, Cryptorchidism, Cupped ear, Cutaneous finger syndactyly, Dacryocystitis, Decreased calvarial ossification, Delayed cranial suture closure, Delayed eruption of primary teeth, Delayed eruption of teeth, Dental crowding, Dental malocclusion, Depressed nasal bridge, Deviation of the thumb, Dolichocephaly, Downslanted palpebral fissures, Dysgerminoma, Ectopic anus, Elbow ankylosis, Esophageal atresia, External ear malformation, Extramedullary hematopoiesis, Facial asymmetry, Feeding difficulties in infancy, Femoral bowing, Finger syndactyly, Flat face, Flat forehead, Frontal bossing, Fused labia minora, Gingival overgrowth, Global developmental delay, Growth abnormality, Hallux valgus, Hallux varus, Hearing abnormality, Hearing impairment, High forehead, High palate, Hirsutism, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hyperextensible skin, Hyperlordosis, Hypertelorism, Hypertension, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the lacrimal puncta, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplasia of the zygomatic bone, Hypoplastic ischia, Hypoplastic labia majora, Hypoplastic lacrimal duct, Incomplete ossification of pubis, Increased intracranial pressure, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Joint stiffness, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Lambdoidal craniosynostosis, Large fontanelles, Laryngomalacia, Limitation of joint mobility, Limited elbow extension, Long nose, Long philtrum, Low anterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Malar flattening, Mandibular prognathia, Megalencephaly, Megalocornea, Melanocytic nevus, Metopic depression, Micrognathia, Microtia, Midface retrusion, Mixed hearing impairment, Morphological abnormality of the semicircular canal, Multiple suture craniosynostosis, Narrow chest, Narrow internal auditory canal, Narrow nose, Narrow palate, Narrow pelvis bone, Nasolacrimal duct obstruction, Natal tooth, Nephrosclerosis, Open bite, Optic atrophy, Osteopenia, Overfolding of the superior helices, Overriding aorta, Oxycephaly, Palmoplantar cutis gyrata, Palmoplantar cutis laxa, Palmoplantar keratoderma, Parietal foramina, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of the distal phalanx of the 3rd finger, Partial duplication of thumb phalanx, Periorbital fullness, Plagiocephaly, Posterior fossa cyst, Preauricular skin furrow, Preaxial polydactyly, Prominent crus of helix, Prominent nasal bridge, Prominent scrotal raphe, Proptosis, Ptosis, Pyloric stenosis, Radial deviation of the 3rd finger, Radioulnar synostosis, Recurrent corneal erosions, Reduced number of teeth, Renal agenesis, Respiratory distress, Rocker bottom foot, Sagittal craniosynostosis, Seizures, Shallow orbits, Short clavicles, Short foot, Short hallux, Short metatarsal, Short middle phalanx of toe, Short nose, Short palm, Short stature, Shortening of all middle phalanges of the fingers, Skull asymmetry, Sleep apnea, Small hand, Small nail, Small thenar eminence, Somatic mutation, Steep acetabular roof, Stenosis of the external auditory canal, Stomach cancer, Strabismus, Subcutaneous nodule, Syndactyly, Synostosis of carpal bones, Telecanthus, Toe syndactyly, Tracheomalacia, Turricephaly, Ulnar bowing, Underdeveloped supraorbital ridges, Upper airway obstruction, Vaginal atresia, Variable expressivity, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide anterior fontanel, Xerostomia
tRG	GPR56	0.907085942	5.55E-14			
tRG	NBPF9	0.993881979	5.57E-14	Unclassified		OMIM|613999
tRG	CTNNA1	0.84821214	5.70E-14	Cytoskeletal protein	BrainSpLMD|1495;Eurexp|euxassay_018188|embryo	OMIM|116805;HPO|1495|Autosomal dominant inheritance
tRG	DNMBP	1.840361221	6.01E-14	Guanine nucleotide exchange factor	BrainSpLMD|23268;Eurexp|euxassay_016234|lens	OMIM|611282
tRG	TMEM98	0.482648623	6.18E-14	Integral membrane protein	BrainSpLMD|26022	OMIM|615949;HPO|26022|Abnormality of the choroid, Autosomal dominant inheritance, Glaucoma, High-grade hypermetropia, Microphthalmia, Strabismus
tRG	TMX1	0.75950772	6.68E-14	Enzyme: Oxidoreductase	BrainSpLMD|81542	OMIM|610527
tRG	SPAG9	0.503369095	7.01E-14	Integral membrane protein	BrainSpLMD|9043;Eurexp|euxassay_014482|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vestibulocochlear VIII	OMIM|605430
tRG	ATP2B4	0.816299666	8.33E-14	ATPase	BrainSpLMD|493;Eurexp|euxassay_013200|lobe, ventral grey horn	OMIM|108732
tRG	RAI14	1.17281091	8.35E-14	Unclassified	BrainSpLMD|26064;Eurexp|euxassay_015953|axial muscle, clavicle, floor plate, floorplate, incisor, lung, mandible, maxilla, metanephros, orbito-sphenoid, palatal shelf, penis, physiological umbilical hernia, rib, roof plate, turbinate, ventricular layer	OMIM|606586
tRG	GLO1	0.392860956	8.44E-14	Enzyme: Lyase	BrainSpLMD|2739	SFARI||Autism, 4 - Minimal evidence;OMIM|138750
tRG	HSPA5	0.826817186	9.07E-14	Chaperone	BrainSpLMD|3309	OMIM|138120
tRG	SDC2	1.196003024	9.65E-14	Adhesion molecule	BrainSpLMD|6383;Eurexp|euxassay_002176|Meckel's cartilage, basioccipital bone, orbito-sphenoid, rib, temporal bone	SFARI||Autism, 4 - Minimal evidence;OMIM|142460
tRG	HOPX	1.420358316	1.02E-13	Transcription regulatory protein	BrainSpLMD|84525;Eurexp|euxassay_010529|anterior, atrium, external, lateral wall, mantle layer, midgut, ventricle, ventricular layer, vibrissa;BrainSpMouseDev|50159	OMIM|607275
tRG	LMNA	1.127113475	1.21E-13	Structural protein	BrainSpLMD|4000;Eurexp|euxassay_000214|atrio-ventricular cushion tissue, mesenchyme, rest of skin	OMIM|150330;COSMIC||Spitzoid tumour, Muscular dystrophy, dilated cardiomyopathy, familial partial lipodystrophy, and others;HPO|4000|Abnormal atrioventricular conduction, Abnormal cellular phenotype, Abnormal electrophysiology of sinoatrial node origin, Abnormal hair whorl, Abnormal trabecular bone morphology, Abnormality of circulating leptin level, Abnormality of retinal pigmentation, Abnormality of the Achilles tendon, Abnormality of the cerebral vasculature, Abnormality of the eyebrow, Abnormality of the foot, Abnormality of the intrahepatic bile duct, Abnormality of the nail, Abnormality of the pinna, Abnormality of the pulmonary artery, Abnormality of the testis, Abnormality of the voice, Absence of pubertal development, Absence of subcutaneous fat, Absent eyebrow, Absent eyelashes, Acanthosis nigricans, Accelerated atherosclerosis, Achilles tendon contracture, Acroosteolysis of distal phalanges (feet), Acute pancreatitis, Adipose tissue loss, Adrenal hypoplasia, Advanced eruption of teeth, Alopecia, Alopecia universalis, Aminoaciduria, Angina pectoris, Aortic atherosclerosis, Aortic root dilatation, Aortic valve calcification, Aortic valve stenosis, Aplasia of the middle phalanx of the hand, Aplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Aplastic clavicles, Areflexia, Arrhythmia, Arteriosclerosis of small cerebral arteries, Arthrogryposis multiplex congenita, Atherosclerosis, Atrial fibrillation, Atrial flutter, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Axial muscle weakness, Axonal degeneration/regeneration, Basal cell carcinoma, Bilateral coxa valga, Bird-like facies, Blepharophimosis, Brachydactyly, Bradycardia, Broad-based gait, Calcinosis, Calf muscle hypertrophy, Choanal atresia, Chondrocalcinosis, Clinodactyly, Congenital muscular dystrophy, Congenital pseudoarthrosis of the clavicle, Congestive heart failure, Convex nasal ridge, Coronary artery disease, Coronary atherosclerosis, Craniofacial disproportion, Cyanosis, Decreased adiponectin level, Decreased calvarial ossification, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Decreased circulating high-density lipoprotein levels, Decreased fertility, Decreased fetal movement, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Decreased serum estradiol, Decreased serum leptin, Decreased skull ossification, Decreased testosterone in males, Delayed cranial suture closure, Delayed eruption of teeth, Delayed puberty, Dental crowding, Dermal atrophy, Dermal translucency, Diabetes mellitus, Difficulty climbing stairs, Difficulty walking, Dilated cardiomyopathy, Distal amyotrophy, Distal lower limb amyotrophy, Distal muscle weakness, Distal sensory impairment, Down-sloping shoulders, Downslanted palpebral fissures, EMG abnormality, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated serum creatine phosphokinase, Emphysema, Enlarged peripheral nerve, Entropion, Epidermal hyperkeratosis, Failure to thrive, Fasting hyperinsulinemia, Feeding difficulties, Flexion contracture, Foot dorsiflexor weakness, Fragile nails, Full cheeks, Gait disturbance, Generalized amyotrophy, Generalized hyperkeratosis, Generalized lipodystrophy, Generalized osteoporosis, Global developmental delay, Glucose intolerance, Glycosuria, Growth delay, Hepatic steatosis, Hepatomegaly, Heterogeneous, High palate, High pitched voice, Hirsutism, Hydropic placenta, Hypercholesterolemia, Hyperglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hyperkeratosis, Hyperlipidemia, Hyperlordosis, Hypermetropia, Hyperphosphatemia, Hypertelorism, Hypertension, Hypertriglyceridemia, Hypodontia, Hypogonadism, Hypogonadotrophic hypogonadism, Hypohidrosis, Hypoplasia of teeth, Hypoplastic facial bones, Hypoplastic nipples, Hyporeflexia, Hypospadias, Hypotrichosis, Increased adipose tissue around the neck, Increased anterioposterior diameter of thorax, Increased facial adipose tissue, Increased intraabdominal fat, Increased intramuscular fat, Infertility, Insulin resistance, Insulin-resistant diabetes mellitus, Intermittent claudication, Intervertebral disc degeneration, Intracranial hemorrhage, Intrauterine growth retardation, Joint stiffness, Juvenile onset, Keratoconjunctivitis sicca, Kyphoscoliosis, Kyphosis, Labial pseudohypertrophy, Lack of skin elasticity, Large fontanelles, Laryngomalacia, Limb muscle weakness, Limb-girdle muscle weakness, Limb-girdle muscular dystrophy, Limitation of joint mobility, Lipoatrophy, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Loss of truncal subcutaneous adipose tissue, Low-set ears, Macrotia, Malar flattening, Meningioma, Metaphyseal widening, Micrognathia, Midface retrusion, Mildly elevated creatine phosphokinase, Minimal subcutaneous fat, Mitral regurgitation, Mitral valve calcification, Motor delay, Mottled pigmentation, Multiple joint contractures, Muscle hypertrophy of the lower extremities, Muscular dystrophy, Muscular hypotonia, Myalgia, Myocardial infarction, Myopathy, Nail dysplasia, Narrow face, Narrow mouth, Narrow nasal ridge, Narrow nasal tip, Nasal speech, Natal tooth, Neck muscle weakness, Neoplasm of the breast, Neoplasm of the lung, Neoplasm of the oral cavity, Neoplasm of the skin, Neoplasm of the small intestine, Neoplasm of the thyroid gland, Onion bulb formation, Onset, Osteoarthritis, Osteolysis, Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the phalanges of the hand, Osteopenia, Osteoporosis, Osteosarcoma, Ovarian neoplasm, Overtubulated long bones, Ovoid vertebral bodies, Papillary renal cell carcinoma, Patchy hypo- and hyperpigmentation, Patent ductus arteriosus, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Pericardial effusion, Peripheral arterial stenosis, Peripheral axonal atrophy, Peroneal muscle atrophy, Peroneal muscle weakness, Pes cavus, Pes planus, Pili torti, Polycystic ovaries, Polyhydramnios, Poor head control, Postnatal growth retardation, Precocious atherosclerosis, Precocious puberty, Premature arteriosclerosis, Premature birth, Premature coronary artery disease, Premature delivery because of cervical insufficiency or membrane fragility, Premature graying of hair, Premature loss of teeth, Premature ovarian insufficiency, Premature rupture of membranes, Premature skin wrinkling, Primary atrial arrhythmia, Progeroid facial appearance, Progressive, Progressive clavicular acroosteolysis, Prolonged prothrombin time, Prominent forehead, Prominent scalp veins, Prominent superficial blood vessels, Prominent superficial veins, Proptosis, Proximal muscle weakness, Proximal upper limb muscle hypertrophy, Ptosis, Pulmonary carcinoid tumor, Pulmonary hypoplasia, Reduced subcutaneous adipose tissue, Renal neoplasm, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Restricted neck movement due to contractures, Reticulated skin pigmentation, Retinal degeneration, Retrognathia, Rocker bottom foot, Round face, Scaling skin, Scapular winging, Scleroderma, Sclerosis of hand bone, Secondary amenorrhea, Sensorineural hearing impairment, Severe muscular hypotonia, Short clavicles, Short distal phalanx of finger, Short nail, Short palm, Short palpebral fissure, Short stature, Short umbilical cord, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Skin erosion, Skin ulcer, Slow progression, Small placenta, Sparse and thin eyebrow, Sparse body hair, Sparse eyebrow, Sparse eyelashes, Sparse hair, Sparse or absent eyelashes, Sparse scalp hair, Spinal rigidity, Squamous cell carcinoma of the skin, Steppage gait, Stiff skin, Stillbirth, Structural foot deformity, Subcutaneous calcification, Submucous cleft hard palate, Sudden cardiac death, Supraventricular arrhythmia, Syndactyly, Talipes, Tapering pointed ends of distal finger phalanges, Telangiectasia of the skin, Telecanthus, Temporomandibular joint ankylosis, Thin bony cortex, Thin clavicles, Thin nail, Thin ribs, Thin skin, Thin vermilion border, Thrombocytosis, Type II diabetes mellitus, Upper limb muscle weakness, Ureteral duplication, Variable expressivity, Ventricular arrhythmia, Ventricular hypertrophy, White forelock, Wide nasal bridge, Widely patent fontanelles and sutures, Wormian bones, X-linked inheritance, Xanthomatosis
tRG	ELMSAN1	0.917419344	1.22E-13	DNA binding protein	BrainSpLMD|91748	
tRG	GAPDH	0.486547294	1.27E-13	Enzyme: Dehydrogenase		OMIM|138400
tRG	LRRTM3	1.304436318	1.43E-13	Integral membrane protein	BrainSpLMD|347731;Eurexp|euxassay_006601|lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, midgut, palatal shelf, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|610869
tRG	ARHGEF6	1.402108877	1.47E-13	Guanine nucleotide exchange factor	BrainSpLMD|9459	OMIM|300267;HPO|9459|Intellectual disability, X-linked recessive inheritance
tRG	PHIP	0.700810166	1.52E-13	Ligand	BrainSpLMD|55023	SFARI||Autism, 4 - Minimal evidence;OMIM|612870
tRG	CNKSR3	0.932557877	1.66E-13	Unclassified	BrainSpLMD|154043	OMIM|617476
tRG	NAMPTL	0.931480443	1.80E-13			
tRG	NADK2	0.65739284	1.95E-13	Unclassified	BrainSpLMD|133686	OMIM|615787;HPO|133686|Autosomal recessive inheritance, Cerebral atrophy, Choreoathetosis, Cortical visual impairment, Death in infancy, Decreased plasma free carnitine, Dystonia, Encephalopathy, Failure to thrive, Global developmental delay, Hyperlysinemia, Leukodystrophy, Microcephaly, Muscular hypotonia, Neonatal hypotonia, Nystagmus, Seizures, Spasticity, Tetraplegia, Ventriculomegaly
tRG	CXCL12	1.697612994	2.00E-13	Chemokine;Cytokine	BrainSpLMD|6387;Eurexp|euxassay_005766|aorta, axial muscle, bladder, cranial muscle, ductus deferens, extrinsic ocular muscle, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, maxillary division, meninges, mesenchyme, metanephros, penis, physiological umbilical hernia, rest of mesenchyme, rib, testis, tongue, turbinate bones;BrainSpMouseDev|20078	OMIM|600835
tRG	MAGT1	1.596093895	2.04E-13	Unclassified	BrainSpLMD|84061	OMIM|300715;HPO|84061|Decreased T cell activation, Decreased number of CD4+ T cells, Immunodeficiency, Lymphoma, Recurrent viral infections, X-linked inheritance
tRG	LINC00943	1.621953578	2.16E-13			
tRG	RTN4	0.326786632	2.26E-13	Integral membrane protein	BrainSpLMD|57142;Eurexp|euxassay_004344|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mesenchyme, neural retina, olfactory, stroma, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|604475
tRG	LRP10	1.908204879	2.32E-13	Cell surface receptor	BrainSpLMD|26020	OMIM|609921
tRG	STOX2	0.631745221	2.41E-13	Unclassified	Eurexp|euxassay_008526|ventricular layer	OMIM|617359
tRG	PAXIP1	1.395728543	2.44E-13	Transcription regulatory protein	BrainSpLMD|22976	OMIM|608254
tRG	EVI5	0.924580047	2.49E-13	Unclassified	BrainSpLMD|7813;Eurexp|euxassay_001717|cervical, cervico-thoracic, lobe;BrainSpMouseDev|13797	OMIM|602942
tRG	CHP1	0.589413406	2.51E-13		BrainSpLMD|11261	OMIM|606988
tRG	MYO1E	1.239732298	3.07E-13	Motor protein	BrainSpLMD|4643	OMIM|601479;HPO|4643|Autosomal recessive inheritance, Chronic kidney disease, Edema, Focal segmental glomerulosclerosis, Hematuria, Hypoalbuminemia, Nephrotic syndrome, Progressive, Proteinuria, Tubular atrophy
tRG	CSRP1	1.991914589	3.21E-13	Adapter molecule	BrainSpLMD|1465;Eurexp|euxassay_019749|aorta, axial skeleton, bladder, clavicle, cortical region, hindgut, incisor, lung, mesenchyme, metanephros, midgut, molar, oesophagus, palatal shelf, skeletal muscle, stomach, submandibular gland primordium, trachea, ureter, vibrissa	OMIM|123876
tRG	MPDZ	0.637066051	3.21E-13	Cell junction protein	BrainSpLMD|8777;Eurexp|euxassay_012184|marginal layer, neural retina, olfactory, ventricular layer	OMIM|603785;HPO|8777|Autosomal recessive inheritance, Communicating hydrocephalus, Congenital onset, Cortical gyral simplification, Intellectual disability, Macrocephaly, Seizures
tRG	NR2E1	1.060967438	3.27E-13	Nuclear receptor	BrainSpLMD|7101;Eurexp|euxassay_007190|epidermis, olfactory, retina, ventricular layer;BrainSpMouseDev|21664	OMIM|603849
tRG	TPI1P1	0.648767046	4.09E-13			
tRG	PIK3C2A	0.711488659	4.22E-13	Lipid Kinase	BrainSpLMD|5286	OMIM|603601
tRG	TSPAN3	0.576273598	4.28E-13	Integral membrane protein	BrainSpLMD|10099;Eurexp|euxassay_011791|axial skeleton, basioccipital bone, basisphenoid bone, naris, nasal septum, orbito-sphenoid, otic capsule, petrous part, rib, turbinate bones	OMIM|613134
tRG	EEF1A1P5	0.371859908	5.43E-13			
tRG	ZMAT1	1.285428211	5.85E-13	DNA binding protein	BrainSpLMD|84460	OMIM|301007
tRG	STXBP3	0.901581665	5.86E-13	Transport/cargo protein	BrainSpLMD|6814	OMIM|608339
tRG	FAM114A1	1.204102711	6.56E-13	Unclassified	BrainSpLMD|92689;Eurexp|euxassay_002429|Meckel's cartilage, cranium	
tRG	LPAR4	1.965431263	6.62E-13	G protein coupled receptor	BrainSpLMD|2846;Eurexp|euxassay_008259|axial skeleton, basisphenoid bone, clavicle, diaphragm, femur, fibula, footplate, handplate, humerus, knee, metatarsus, midgut, naris, nasal septum, otic capsule, paraxial mesenchyme, phalanx, rest of mesenchyme, rib, skeletal muscle, sternum, stomach, thyroid, tibia, tongue, turbinate bones, ventricle, vertebral axis muscle system	OMIM|300086
tRG	MRC2	0.621779933	6.65E-13	Cell surface receptor	BrainSpLMD|9902;Eurexp|euxassay_009360|mandible, maxilla, meninges, mesenchyme, temporal bone	OMIM|612264
tRG	TPM1	1.284160144	6.97E-13	Cytoskeletal associated protein	BrainSpLMD|7168;Eurexp|euxassay_009503|atrium, axial skeleton, bladder, choroid plexus, diaphragm, extrinsic ocular muscle, hindgut, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, liver, lung, mantle layer, mesenchyme, metanephros, midgut, nasal septum, skeletal muscle, skin, stomach, ventral grey horn, ventricle, vertebral axis muscle system, vibrissa	OMIM|191010;HPO|7168|Autosomal dominant inheritance, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular tachycardia
tRG	AHI1	0.558924301	7.02E-13	Adapter molecule	BrainSpLMD|54806;Eurexp|euxassay_005590|brain, cervical, cervico-thoracic, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V;BrainSpMouseDev|32386	SFARI||Autism, No category;OMIM|608894;HPO|54806|Abnormal electroretinogram, Anteverted nares, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Central apnea, Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Enlarged fossa interpeduncularis, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Heterogeneous, Highly arched eyebrow, Intellectual disability, Long face, Low-set ears, Molar tooth sign on MRI, Motor delay, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nystagmus, Oculomotor apraxia, Open mouth, Pigmentary retinopathy, Ptosis, Retinal dystrophy, Stage 5 chronic kidney disease, Visual impairment, Wide nasal bridge
tRG	ZFP36L2	1.054922513	7.36E-13	Transcription factor	BrainSpLMD|678	OMIM|612053
tRG	ENPP2	2.813102917	8.22E-13	Enzyme: Phosphodiesterase	BrainSpLMD|5168;Eurexp|euxassay_002856|4th ventricle, bladder, calyces, cartilaginous ring, choroid plexus, clavicle, ductus deferens, incisor, laryngeal, larynx, lateral recess, mesenchyme, molar, muscle, oral epithelium, penis, phalanx, skeletal muscle, trachea, ventral grey horn, ventricular layer, vibrissa	OMIM|601060
tRG	GADD45A	1.011916906	8.29E-13	DNA repair protein	BrainSpLMD|1647;Eurexp|euxassay_004250|liver, olfactory, retina	OMIM|126335
tRG	GPR126	1.728529319	8.50E-13			
tRG	SDCBP	0.604480748	9.66E-13	Adapter molecule	BrainSpLMD|6386;Eurexp|euxassay_008333|naris, olfactory, respiratory	OMIM|602217
tRG	BTG2	1.072782703	9.88E-13	Cell cycle control protein	BrainSpLMD|7832;Eurexp|euxassay_000263|alar plate, diencephalon, epithelium, hindbrain, liver, lung, metencephalon, midbrain, neural retina, oesophagus, oral epithelium, spinal cord, stomach, telencephalon, ventricular layer	OMIM|601597
tRG	SPTSSA	1.457529949	1.08E-12	Unclassified	BrainSpLMD|171546	OMIM|613540
tRG	ELOVL5	0.767046802	1.14E-12	Unclassified	BrainSpLMD|60481	OMIM|611805;HPO|60481|Autosomal dominant inheritance, Cerebellar atrophy, Dysarthria, Gait ataxia, Limb ataxia, Nystagmus, Slow progression, Slow saccadic eye movements
tRG	TMTC2	0.94712063	1.24E-12	Integral membrane protein	BrainSpLMD|160335;Eurexp|euxassay_011308|axial skeleton, bladder, brain, capsule, clavicle, cornea, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, hindgut, mandible, maxilla, midgut, oesophagus, olfactory, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, rib, skeletal muscle, spinal cord, stomach, tibia, trigeminal V, ureter, vagus X, valve, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|615856
tRG	ADHFE1	2.260180104	1.30E-12	Enzyme: Dehydrogenase	BrainSpLMD|137872;Eurexp|euxassay_018617|basisphenoid bone, calyces, exoccipital bone, meninges, nucleus pulposus, orbito-sphenoid, otic capsule, pectoral girdle and thoracic body wall, rib, skeletal muscle, supraoccipital cartilage condensation, turbinate, turbinate bones, ventral grey horn, ventricular layer	OMIM|611083
tRG	FBXL7	1.283629293	1.44E-12	Ubiquitin proteasome system protein	BrainSpLMD|23194	OMIM|605656
tRG	AZIN1	0.615575336	1.45E-12	Unclassified	BrainSpLMD|51582	OMIM|607909
tRG	KIAA1161	1.622404721	1.64E-12			
tRG	SRF	1.321415193	1.73E-12	Transcription factor	BrainSpLMD|6722;Eurexp|euxassay_019526|bladder, metanephros, submandibular gland primordium, urethra;BrainSpMouseDev|20569	OMIM|600589
tRG	RGL1	1.26328372	1.73E-12	Guanine nucleotide exchange factor	BrainSpLMD|23179	OMIM|605667
tRG	SALL1	1.229193089	1.80E-12	Transcription factor	BrainSpLMD|6299;Eurexp|euxassay_000198|basal columns, corpus striatum, epithelium, floor plate, floorplate, glomeruli, handplate, head mesenchyme, intermediate grey horn, isthmus, lateral wall, mantle layer, marginal layer, medulla oblongata, mesenchyme, olfactory, pars tuberalis, penis, skin, telencephalon, thyroid, ventral grey horn, ventricular layer;BrainSpMouseDev|37230	OMIM|602218;HPO|6299|2-3 toe syndactyly, 3-4 finger syndactyly, 3-4 toe syndactyly, Anal atresia, Anal stenosis, Anteriorly placed anus, Aplasia/Hypoplasia of the 3rd toe, Autosomal dominant inheritance, Bifid scrotum, Bifid uterus, Broad thumb, Chorioretinal coloboma, Clinodactyly of the 5th finger, Constipation, Cryptorchidism, Duodenal atresia, External ear malformation, Gastroesophageal reflux, Hearing impairment, Hypospadias, Hypothyroidism, Intellectual disability, Macrotia, Metatarsal synostosis, Microcephaly, Microtia, Overfolded helix, Overfolding of the superior helices, Partial duplication of thumb phalanx, Pes planus, Preauricular skin tag, Preaxial hand polydactyly, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Rectovaginal fistula, Renal insufficiency, Satyr ear, Short metatarsal, Stahl ear, Subcutaneous nodule, Tetralogy of Fallot, Toe clinodactyly, Triphalangeal thumb, Umbilical hernia, Urethral valve, Ventricular septal defect
tRG	NACC2	1.501063291	1.82E-12	Unclassified	BrainSpLMD|138151;Eurexp|euxassay_003015|basal plate, calyces, incisor, limb, marginal layer, molar, submandibular gland primordium, tail	OMIM|615786
tRG	LDHB	0.305084877	1.91E-12	Enzyme: Dehydrogenase	BrainSpLMD|3945	OMIM|150100
tRG	RPL3	0.500513632	2.00E-12	Ribosomal subunit		OMIM|604163
tRG	ARID5B	0.873365053	2.07E-12	DNA binding protein	Eurexp|euxassay_016566|mantle layer;BrainSpMouseDev|47212	OMIM|608538
tRG	ZEB1	0.86135324	2.17E-12	Transcription factor	BrainSpLMD|6935;Eurexp|euxassay_015398|central nervous system, meninges, vertebral axis muscle system;BrainSpMouseDev|21178	OMIM|189909;COSMIC||CCRCC, melanoma;HPO|6935|Autosomal dominant inheritance, Corneal dystrophy, Corneal guttata
tRG	TJP1	0.961574955	2.30E-12	Cell junction protein	BrainSpLMD|7082;Eurexp|euxassay_018809|brain, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, left lung, meninges, metanephros, right lung, spinal cord, trigeminal V	OMIM|601009
tRG	MEIS1	0.943209564	2.45E-12	Transcription factor	BrainSpLMD|4211;Eurexp|euxassay_010373|cornea, epithelium, hindgut, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, respiratory, sublingual gland primordium, submandibular gland primordium, trachea, ventricular layer, vibrissa;BrainSpMouseDev|17037	OMIM|601739
tRG	TSPAN5	0.547240024	3.13E-12	Integral membrane protein	BrainSpLMD|10098	OMIM|613136
tRG	LAMA1	1.565960479	3.41E-12	Extracellular matrix protein	BrainSpLMD|284217;Eurexp|euxassay_011017|epithelium, glomeruli, lens, meninges, renal/urinary system, ventricular layer;BrainSpMouseDev|16544	SFARI||Autism, 4 - Minimal evidence;OMIM|150320;HPO|284217|Abnormality of the periventricular white matter, Amblyopia, Autosomal recessive inheritance, Cerebellar cyst, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Delayed speech and language development, Dilated fourth ventricle, Motor delay, Myopia, Nystagmus, Oculomotor apraxia, Retinal atrophy, Retinal dystrophy, Retinal thinning, Strabismus, Variable expressivity
tRG	MTHFD1L	1.532712265	3.46E-12	Enzyme: Ligase	BrainSpLMD|25902;Eurexp|euxassay_002080|Meckel's cartilage, foregut-midgut junction, hindgut, lobe, midgut, neural retina, orbito-sphenoid, rectum, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|611427
tRG	PPFIA1	0.967044851	3.63E-12	Anchor protein	BrainSpLMD|8500	SFARI||Autism, No category;OMIM|611054
tRG	MYL6	0.347587396	3.89E-12	Cytoskeletal protein	BrainSpLMD|4637	OMIM|609931
tRG	GEM	1.347659748	4.24E-12	G protein	BrainSpLMD|2669;Eurexp|euxassay_003192|adrenal gland, clavicle, dorsal grey horn, incisor, molar, oesophagus, testis, ventricular layer, vibrissa	OMIM|600164
tRG	COQ10B	0.751170653	4.32E-12	Unclassified	BrainSpLMD|80219	
tRG	INHBB	1.088892163	4.47E-12	Ligand	BrainSpLMD|3625;BrainSpMouseDev|16097	OMIM|147390
tRG	FHOD3	0.949450541	4.51E-12	Regulatory/other subunit	Eurexp|euxassay_000020|axial skeleton, basal columns, capsule, cardiac muscle, dermal component, duodenum, facial VII, foregut, glossopharyngeal IX, hindgut, inferior, mantle layer, medulla, medullary tubules, midgut, muscle, skeletal muscle, trigeminal V, vagus X, ventricular layer, vertebral cartilage condensation, vestibulocochlear VIII	OMIM|609691
tRG	TGFB2	1.587651857	4.54E-12	Growth factor	BrainSpLMD|7042;BrainSpMouseDev|21567	OMIM|190220;HPO|7042|Abnormality of the iris, Abnormality of the sternum, Aortic dissection, Aortic regurgitation, Arachnodactyly, Arterial tortuosity, Ascending aortic dissection, Autosomal dominant inheritance, Bruising susceptibility, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Dural ectasia, Exertional dyspnea, High palate, Hypertension, Inguinal hernia, Joint hyperflexibility, Left ventricular failure, Mitral valve prolapse, Paroxysmal dyspnea, Pes planus, Retrognathia, Scoliosis, Tall stature
tRG	ANKRD20A2	0.855893892	4.58E-12	Unclassified		
tRG	MORF4L2	0.491195715	5.28E-12	Transcription regulatory protein	BrainSpLMD|9643;Eurexp|euxassay_007035|embryo	OMIM|300409
tRG	LAMB2	1.719396051	5.92E-12	Extracellular matrix protein	BrainSpLMD|3913	OMIM|150325;HPO|3913|Areflexia, Autosomal recessive inheritance, Blindness, Diffuse mesangial sclerosis, Edema, Generalized hypotonia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Hypoproteinemia, Myopia, Neonatal onset, Nephrotic syndrome, Nystagmus, Posterior lenticonus, Proteinuria, Stage 5 chronic kidney disease, Strabismus
tRG	SERF2	0.320563848	6.95E-12	RNA binding protein	BrainSpLMD|10169;Eurexp|euxassay_007238|cranium	OMIM|605054
tRG	PHLPP1	1.003429995	7.47E-12	Unclassified	BrainSpLMD|23239;Eurexp|euxassay_010722|ventricular layer	OMIM|609396
tRG	IRF2BP2	0.253095587	7.52E-12	Transcription regulatory protein	BrainSpLMD|359948	OMIM|615332
tRG	CNBP	0.445380094	7.94E-12	RNA binding protein	BrainSpLMD|7555	OMIM|116955;COSMIC||aneurysmal bone cyst;HPO|7555|Autosomal dominant inheritance, Cataract, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, Elevated serum creatine phosphokinase, Frontal balding, Hypogonadism, IgG deficiency, IgM deficiency, Insulin insensitivity, Iridescent posterior subcapsular cataract, Myalgia, Myotonia, Neck flexor weakness, Oligospermia, Palpitations, Proximal muscle weakness, Tachycardia, Type 2 muscle fiber atrophy
tRG	USP16	0.572295493	8.37E-12	Ubiquitin proteasome system protein	BrainSpLMD|10600	OMIM|604735
tRG	MDK	0.836538576	8.57E-12	Cytokine	BrainSpLMD|4192;Eurexp|euxassay_000525|anal region, gut, head mesenchyme, lung, mesenchyme, metanephros, penis, physiological umbilical hernia, spleen primordium, trunk mesenchyme, ventricular layer	OMIM|162096
tRG	SRSF5	0.341758582	9.41E-12	RNA binding protein	BrainSpLMD|6430	OMIM|600914
tRG	MYL12A	0.663773784	1.02E-11	Calcium binding protein	BrainSpLMD|10627	
tRG	CAPG	0.549801076	1.06E-11	Cytoskeletal associated protein	BrainSpLMD|822;Eurexp|euxassay_014310|epithelium, incisor, mandible, maxilla, molar, oral epithelium, pharyngo-tympanic tube	OMIM|153615
tRG	TPM4	0.599952251	1.07E-11	Cytoskeletal protein		OMIM|600317;COSMIC||ALCL
tRG	SSB	0.268723402	1.10E-11	RNA binding protein	BrainSpLMD|6741	OMIM|109090
tRG	PREX2	1.148767915	1.12E-11	Guanine nucleotide exchange factor	BrainSpLMD|80243	OMIM|612139;COSMIC||melanoma, pancreatic ductal adenocarcinoma
tRG	TGIF2	0.96536508	1.17E-11	Transcription factor	BrainSpLMD|60436;Eurexp|euxassay_019508|axial skeleton, cornea, epithelium, incisor, lung, marginal layer, metanephros, molar, neural retina, oesophagus, olfactory, phalanx, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|86790	OMIM|607294
tRG	ANKRD20A4	1.209694223	1.24E-11	Unclassified		
tRG	PIM1	1.153045498	1.26E-11	Serine/threonine kinase	BrainSpLMD|5292	OMIM|164960;COSMIC||NHL
tRG	IFT57	0.860465386	1.61E-11	Unclassified	BrainSpLMD|55081	OMIM|606621
tRG	AC007228.9	0.374213998	1.62E-11			
tRG	EIF2AK2	0.299612786	1.67E-11	Serine/threonine kinase	BrainSpLMD|5610	OMIM|176871
tRG	SH3BGRL	0.682055135	1.77E-11	Unclassified	BrainSpLMD|6451	OMIM|300190
tRG	SLC25A37	0.864094808	1.81E-11	Transport/cargo protein	BrainSpLMD|51312;Eurexp|euxassay_007768|liver, mesenchyme	OMIM|610387
tRG	KTN1	0.270986213	1.94E-11	Anchor protein	BrainSpLMD|3895	OMIM|600381;COSMIC||papillary thyroid
tRG	C2orf72	1.316147028	1.98E-11	Unclassified	Eurexp|euxassay_008051|left, right, ventricular layer	
tRG	SNHG5	0.663291046	2.07E-11			OMIM|613263
tRG	CYSTM1	1.073933646	2.10E-11	Unclassified	BrainSpLMD|84418	
tRG	FLNA	1.11536124	2.12E-11	Anchor protein;Structural protein	BrainSpLMD|2316	OMIM|300017;COSMIC||phyllodes tumour of the breast;HPO|2316|Abdominal distention, Abnormal bleeding, Abnormal facial shape, Abnormal foot bone ossification, Abnormal form of the vertebral bodies, Abnormal hand bone ossification, Abnormal vertebral segmentation and fusion, Abnormality of dental morphology, Abnormality of metabolism/homeostasis, Abnormality of neuronal migration, Abnormality of oral frenula, Abnormality of skin pigmentation, Abnormality of the cardiac septa, Abnormality of the coagulation cascade, Abnormality of the fifth metatarsal bone, Abnormality of the heart valves, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the pinna, Abnormality of the ribs, Absent frontal sinuses, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Accessory carpal bones, Ankle contracture, Anodontia, Antegonial notching of mandible, Anterior concavity of thoracic vertebrae, Anteriorly placed odontoid process, Aortic regurgitation, Arachnodactyly, Bicuspid aortic valve, Bipartite calcaneus, Bowing of the long bones, Brachydactyly, Broad distal phalanx of the thumb, Broad face, Broad forehead, Broad hallux, Broad phalanges of the hand, Broad thumb, Bulbous tips of toes, Camptodactyly of finger, Camptodactyly of toe, Capitate-hamate fusion, Cerebellar hypoplasia, Cleft palate, Coarse facial features, Coarse hair, Coat hanger sign of ribs, Cognitive impairment, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Congenital hip dislocation, Congestive heart failure, Constipation, Cor pulmonale, Coxa valga, Craniofacial hyperostosis, Cryptorchidism, Delayed closure of the anterior fontanelle, Delayed cranial suture closure, Delayed eruption of teeth, Delayed speech and language development, Dental malocclusion, Depressed nasal bridge, Dislocated radial head, Downslanted palpebral fissures, Elbow dislocation, Elbow flexion contracture, Failure to thrive, Feeding difficulties in infancy, Femoral bowing, Fibroma, Fibular aplasia, Flared iliac wings, Flared metaphysis, Flat face, Focal seizures, Frontal bossing, Frontal hirsutism, Fused cervical vertebrae, Gait disturbance, Gastroesophageal reflux, Genu valgum, Global developmental delay, Glossoptosis, Hearing impairment, Hernia, Heterotopia, High palate, Hip dislocation, Hirsutism, Hoarse voice, Hydrocephalus, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplasia of the musculature, Hypoplastic frontal sinuses, Hypoplastic ilia, Hypoplastic scapulae, Hypospadias, Hypotrichosis, Increased bone mineral density, Increased density of long bone diaphyses, Increased mean platelet volume, Increased size of the mandible, Infantile onset, Intellectual disability, Intellectual disability, mild, Intestinal hypoplasia, Intestinal malrotation, Intestinal pseudo-obstruction, Iris coloboma, Irregular metacarpals, Joint hypermobility, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Large fontanelles, Large foramen magnum, Large forehead, Lateral femoral bowing, Limitation of joint mobility, Limited elbow extension, Limited knee flexion, Lipoatrophy, Localized skin lesion, Long fingers, Long foot, Long metacarpals, Long neck, Long phalanx of finger, Low-set ears, Macrotia, Malar flattening, Micrognathia, Midface retrusion, Misalignment of teeth, Mitral regurgitation, Mitral valve prolapse, Motor delay, Multiple impacted teeth, Multiple joint contractures, Nail dysplasia, Nail dystrophy, Narrow chest, Narrow mouth, Neonatal hypotonia, Nonossified fifth metatarsal, Obtuse angle of mandible, Oligodontia, Omphalocele, Osteolytic defects of the phalanges of the hand, Overlapping fingers, Partial fusion of carpals, Partial fusion of tarsals, Patent ductus arteriosus, Pectus excavatum, Periventricular gray matter heterotopia, Persistence of primary teeth, Pes planus, Pierre-Robin sequence, Platyspondyly, Pointed chin, Postaxial hand polydactyly, Posterior vertebral hypoplasia, Posteriorly rotated ears, Postnatal growth retardation, Prominent forehead, Prominent occiput, Prominent supraorbital ridges, Proptosis, Proximal placement of thumb, Ptosis, Pulmonary arterial hypertension, Pulmonary hypoplasia, Pyloric stenosis, Radial bowing, Radial deviation of the 2nd finger, Recurrent otitis media, Recurrent respiratory infections, Reduced number of teeth, Respiratory failure, Rocker bottom foot, Rudimentary fibula, Sandal gap, Scapular winging, Sclerosis of skull base, Scoliosis, Seizures, Selective tooth agenesis, Sensorineural hearing impairment, Short 3rd metacarpal, Short 4th metacarpal, Short 5th metacarpal, Short chin, Short chordae tendineae of the mitral valve, Short chordae tendineae of the tricuspid valve, Short clavicles, Short distal phalanx of finger, Short distal phalanx of hallux, Short distal phalanx of the thumb, Short hallux, Short humerus, Short metacarpal, Short metatarsal, Short nose, Short palm, Short ribs, Short stature, Short thumb, Short toe, Skeletal dysplasia, Skeletal muscle atrophy, Small face, Smooth philtrum, Spondylolysis, Stillbirth, Strabismus, Stridor, Stroke, Synostosis of carpal bones, Talipes equinovarus, Thick skull base, Thickened calvaria, Thin skin, Thrombocytopenia, Tibial bowing, Toe clinodactyly, Toe syndactyly, Tricuspid regurgitation, Tricuspid valve prolapse, Ulnar bowing, Ulnar deviation of finger, Underdeveloped superior crus of antihelix, Undulate clavicles, Ureteral obstruction, Ureteral stenosis, Vertical clivus, Vomiting, Wide anterior fontanel, Wide nasal bridge, Wormian bones, Wrist flexion contracture, X-linked dominant inheritance, X-linked inheritance, X-linked recessive inheritance
tRG	HTR2A	1.843258838	2.51E-11	G protein coupled receptor	BrainSpLMD|3356;BrainSpMouseDev|15333	SFARI||Autism, 5 - Hypothesized but untested;OMIM|182135
tRG	LRP6	0.457229368	2.62E-11	Structural protein	BrainSpLMD|4040;Eurexp|euxassay_018221|lung, nasal septum, otic capsule, submandibular gland primordium, trachea, vibrissa;BrainSpMouseDev|16744	OMIM|603507;HPO|4040|Agenesis of permanent teeth, Autosomal dominant inheritance, Hypoplasia of the maxilla, Microdontia, Micrognathia, Oligodontia
tRG	ANKRD20A1	1.474041168	2.65E-11	Unclassified		
tRG	CD164	0.859987474	2.70E-11	Adhesion molecule	Eurexp|euxassay_019262|epithelium, incisor, lung, molar, nucleus pulposus, olfactory, orbito-sphenoid, pancreas, pituitary, skeletal muscle, thymus primordium, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|32917	OMIM|603356;HPO|8763|Autosomal dominant inheritance, Sensorineural hearing impairment, Variable expressivity
tRG	TNRC6A	0.659881304	2.86E-11	Transcription regulatory protein	BrainSpLMD|27327	OMIM|610739
tRG	NBPF15	0.605176336	2.89E-11	Unclassified		OMIM|614005
tRG	SREBF2	0.34836881	3.32E-11	Transcription factor	BrainSpLMD|6721;BrainSpMouseDev|20550	OMIM|600481
tRG	LPP	0.568205568	3.71E-11	Unclassified	BrainSpLMD|4026	OMIM|600700;COSMIC||lipoma, leukaemia
tRG	VEGFA	0.566221886	3.84E-11	Growth factor	BrainSpLMD|7422;BrainSpMouseDev|22096	OMIM|192240
tRG	HAT1	0.261350574	4.01E-11	Enzyme: Acyltransferase	BrainSpLMD|8520;Eurexp|euxassay_015562|brain, cerebral cortex, diencephalon, forebrain, hindbrain, liver, lung, medullary region, midbrain, optic II, optic stalk, telencephalon, testis, thymus primordium	OMIM|603053
tRG	JUN	0.788459354	4.05E-11	Transcription factor	BrainSpLMD|3725;Eurexp|euxassay_017995|mantle layer, metacarpus, metatarsus, olfactory, phalanx, ventral grey horn, ventricular layer;BrainSpMouseDev|16249	OMIM|165160;COSMIC||sarcoma
tRG	AC116366.6	2.028248705	4.28E-11			
tRG	LRIG1	1.157931815	4.62E-11	Cell surface receptor	BrainSpLMD|26018	OMIM|608868
tRG	IL6ST	1.069493079	4.66E-11	Cytokine receptor	BrainSpLMD|3572;BrainSpMouseDev|15968	OMIM|600694;COSMIC||hepatocellular carcinoma
tRG	RHOC	1.424227655	4.79E-11	GTPase	BrainSpLMD|389	OMIM|165380
tRG	CTD.3252C9.4	1.037116367	4.83E-11			
tRG	NFKBIZ	0.901478948	4.93E-11	Transcription regulatory protein	BrainSpLMD|64332	OMIM|608004
tRG	GNG5	0.438937218	5.29E-11	G protein	BrainSpLMD|2787;Eurexp|euxassay_007798|embryo	OMIM|600874
tRG	SIK3	0.910844547	5.94E-11	Unclassified	BrainSpLMD|23387;Eurexp|euxassay_017775|Meckel's cartilage, vibrissa	OMIM|614776
tRG	PLEKHG1	1.645937596	6.12E-11	Unclassified	BrainSpMouseDev|84601	
tRG	FERMT2	0.816783376	6.12E-11	Cytoskeletal protein	BrainSpLMD|10979;Eurexp|euxassay_012610|hindgut, metanephros, midgut, stomach, ventricular layer, wall	OMIM|607746
tRG	HBEGF	1.550826159	6.20E-11	Growth factor	BrainSpLMD|1839;BrainSpMouseDev|14976	OMIM|126150
tRG	MCFD2	1.018258203	6.25E-11	Unclassified	BrainSpLMD|90411;Eurexp|euxassay_000692|Meckel's cartilage, chondrocranium, incisor, molar	OMIM|607788;HPO|90411|Autosomal recessive inheritance, Epistaxis, Menorrhagia, Persistent bleeding after trauma, Reduced factor V activity, Reduced factor VIII activity
tRG	DENND5A	0.773313616	6.80E-11	Unclassified	BrainSpLMD|23258	OMIM|617278
tRG	ST13	0.471766375	6.82E-11	Adapter molecule	BrainSpLMD|6767	OMIM|606796
tRG	HIGD1A	0.722954624	8.00E-11	Integral membrane protein		
tRG	GPBP1	0.332826294	8.01E-11	Transcription regulatory protein	BrainSpLMD|65056	OMIM|608412
tRG	KIF1B	0.518728299	9.02E-11	Motor protein	BrainSpLMD|23095;Eurexp|euxassay_013179|diaphragm, floor plate, floorplate, footplate, handplate, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, ventricular layer, vertebral axis muscle system	OMIM|605995;HPO|23095|Areflexia, Autosomal dominant inheritance, Axonal degeneration/regeneration, Cafe-au-lait spot, Cerebral hemorrhage, Congenital cataract, Congestive heart failure, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Elevated urinary norepinephrine, Episodic hypertension, Foot dorsiflexor weakness, Hammertoe, Hemangioma, Heterogeneous, Hypercalcemia, Hyperhidrosis, Hypertensive retinopathy, Hyporeflexia, Neoplasm, Onion bulb formation, Onset, Peripheral axonal atrophy, Pes cavus, Pheochromocytoma, Positive regitine blocking test, Proteinuria, Renal artery stenosis, Slow progression, Steppage gait, Tachycardia
tRG	SFRP2	0.803081125	9.54E-11	Secreted polypeptide	BrainSpLMD|6423;BrainSpMouseDev|20082	OMIM|604157
tRG	ATF3	0.741789552	1.03E-10	Transcription regulatory protein	BrainSpLMD|467;Eurexp|euxassay_006681|femur, humerus, ventricle;BrainSpMouseDev|11697	OMIM|603148
tRG	CHORDC1	0.459031873	1.04E-10	Unclassified	BrainSpLMD|26973;Eurexp|euxassay_005070|brain, olfactory, trigeminal V, vomeronasal organ	OMIM|604353
tRG	FUT9	0.330444322	1.04E-10	Enzyme: Fucosyltransferase	BrainSpLMD|10690	OMIM|606865
tRG	C16orf80	0.484167119	1.08E-10			
tRG	APBB2	0.649322462	1.19E-10	Adapter molecule	BrainSpLMD|323;Eurexp|euxassay_007659|corpus striatum, mantle layer, nasal septum, neural retina, turbinate bones, ventral grey horn	OMIM|602710
tRG	SPAG1	1.195388033	1.45E-10	GTPase	BrainSpLMD|6674	OMIM|603395;HPO|6674|Autosomal recessive inheritance, Bronchiectasis, Chronic bronchitis, Ciliary dyskinesia, Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Respiratory insufficiency due to defective ciliary clearance, Rhinitis, Sinusitis, Situs inversus totalis
tRG	RP1.104O17.3	1.113817831	1.59E-10			
tRG	HERPUD1	0.711063044	1.62E-10	Integral membrane protein	BrainSpLMD|9709;Eurexp|euxassay_005097|clavicle, mandible, maxilla, olfactory, orbito-sphenoid	OMIM|608070;COSMIC||prostate
tRG	FAM13A	0.636765924	1.63E-10	Unclassified	BrainSpLMD|10144	OMIM|613299
tRG	REEP3	0.672195329	1.65E-10	Unclassified	BrainSpLMD|221035;Eurexp|euxassay_004457|digit 1, digit 2, digit 3, digit 4, digit 5, footplate, handplate, lower leg, trigeminal V, valve, ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|609348
tRG	RPL3P4	0.489096772	1.69E-10			
tRG	SEMA5B	0.93563704	1.74E-10	Integral membrane protein	BrainSpLMD|54437;BrainSpMouseDev|20120	OMIM|609298
tRG	RBM23	0.653266596	1.93E-10	Transcription regulatory protein	BrainSpLMD|55147	
tRG	ILK	0.671802298	2.04E-10	Serine/threonine kinase	BrainSpLMD|3611	OMIM|602366
tRG	RP11.1033A18.1	0.367430941	2.13E-10			
tRG	SQLE	0.928739923	2.14E-10	Enzyme: Oxygenase	BrainSpLMD|6713	OMIM|602019
tRG	KCNT2	1.07544824	2.27E-10	Ion channel	BrainSpLMD|343450	OMIM|610044
tRG	NOTCH1	0.978465482	2.31E-10	Cell surface receptor	BrainSpLMD|4851;Eurexp|euxassay_018738|cochlea, cornea, cortex, epidermis, epithelium, incisor, left lung, molar, olfactory, rest of skin, retina, right lung, submandibular gland primordium, thymus primordium, utricle, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|17895	OMIM|190198;COSMIC||T-ALL, breast, bladder, skin SCC, lung SCC, head and neck SCC;HPO|4851|Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis, Aplasia cutis congenita, Autosomal dominant inheritance, Bicuspid aortic valve, Brachydactyly, Calvarial skull defect, Cataract, Cavernous hemangioma, Coarctation of aorta, Cutis marmorata, Cutis marmorata telangiectatica congenita, Dilatation of the aortic arch, Dystrophic toenail, Failure to thrive, Finger syndactyly, Heart murmur, Hydrocephalus, Hypertension, Microphthalmia, Phenotypic variability, Pulmonary arterial hypertension, Pulmonary artery atresia, Pulmonic stenosis, Right ventricular hypertrophy, Short distal phalanx of finger, Sparse hair, Split hand, Strabismus, Syndactyly, Talipes, Tetralogy of Fallot, Thoracic aorta calcification
tRG	FADS1	0.732151181	2.38E-10	Enzyme: Oxidoreductase	BrainSpLMD|3992;Eurexp|euxassay_000686|adrenal gland, testis	OMIM|606148
tRG	NEK6	1.262290595	2.40E-10	Serine/threonine kinase	BrainSpLMD|10783	OMIM|604884
tRG	ASPH	1.057314254	2.40E-10	Enzyme: Hydroxylase	BrainSpLMD|444	OMIM|600582;HPO|444|Abnormal facial shape, Autosomal recessive inheritance, Convex nasal ridge, Dental malocclusion, Downslanted palpebral fissures, Ectopia lentis, Iris atrophy, Large beaked nose, Prominent nose, Retrognathia
tRG	PLAT	1.452058586	2.51E-10	Serine protease	BrainSpLMD|5327	OMIM|173370;HPO|5327|Autosomal dominant inheritance, Hypercoagulability, Recurrent deep vein thrombosis
tRG	NEK11	1.607185915	2.53E-10	Cell cycle control protein	BrainSpLMD|79858	OMIM|609779
tRG	FOXK1	0.683542043	2.59E-10	Transcription factor	Eurexp|euxassay_010907|floor plate, floorplate, mantle layer;BrainSpMouseDev|17193	OMIM|616302
tRG	GCA	1.042681805	2.78E-10	Calcium binding protein	BrainSpLMD|25801;Eurexp|euxassay_012524|ventricular layer	OMIM|607030
tRG	FAM171B	0.279026712	2.87E-10	Integral membrane protein	BrainSpLMD|165215;Eurexp|euxassay_008581|dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, ventricular layer, vestibulocochlear VIII	
tRG	FAM84A	1.098736329	2.90E-10	Unclassified	BrainSpLMD|151354;Eurexp|euxassay_003388|respiratory, submandibular gland primordium, urethra, vibrissa	OMIM|611234
tRG	DCUN1D3	1.023576866	3.09E-10	Unclassified	BrainSpLMD|123879;BrainSpMouseDev|87722	OMIM|616167
tRG	RNF213	0.782683389	3.14E-10	Unclassified	BrainSpLMD|57674	OMIM|613768;COSMIC||ALCL;HPO|57674|Abnormality of the cerebral vasculature, Intellectual disability, Seizures, Telangiectasia, Ventriculomegaly
tRG	OTX1	1.589882814	3.25E-10	Transcription factor	BrainSpLMD|5013;Eurexp|euxassay_004727|brain, conjunctival sac, dorsal root ganglion, epithelium, glossopharyngeal IX, incisor, naris, naso-lacrimal duct, neural retina, olfactory, oral epithelium, respiratory, spinal cord, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|18190	SFARI||Autism, 4 - Minimal evidence;OMIM|600036
tRG	JDP2	1.538653093	3.32E-10	Transcription factor	BrainSpLMD|122953;Eurexp|euxassay_016441|axial skeleton, dorsal root ganglion, facial VII, femur, glossopharyngeal IX, humerus, mandible, mantle layer, maxilla, neural retina, phalanx, scapula, trigeminal V, vagus X, ventral grey horn;BrainSpMouseDev|57385	OMIM|608657
tRG	HSP90B1	0.422684986	3.60E-10	Heat shock protein	BrainSpLMD|7184;Eurexp|euxassay_000099|body-wall mesenchyme, dermis, epidermis, nucleus pulposus	OMIM|191175
tRG	SPRY2	0.916412242	3.68E-10	Unclassified	BrainSpLMD|10253	OMIM|602466
tRG	LARP7	0.627632906	3.93E-10	Unclassified	BrainSpLMD|51574;Eurexp|euxassay_006535|embryo	OMIM|612026;HPO|51574|Autosomal recessive inheritance, Decreased body weight, Deeply set eye, Depressed nasal bridge, Global developmental delay, Intellectual disability, severe, Low-set ears, Malar flattening, Microcephaly, Scoliosis, Severe short stature, Short philtrum, Thick vermilion border, Wide mouth, Wide nasal bridge, Wide nose
tRG	NCAM2	1.013044302	3.99E-10	Adhesion molecule	BrainSpLMD|4685;BrainSpMouseDev|17735	OMIM|602040
tRG	PLOD2	1.526923813	4.35E-10	Enzyme: Hydroxylase	BrainSpLMD|5352;Eurexp|euxassay_008722|axial skeleton, basisphenoid bone, clavicle, exoccipital bone, mesenchyme, nasal septum, otic capsule, petrous part, rib, sternum, tongue, trachea, turbinate	OMIM|601865;HPO|5352|Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Elbow flexion contracture, Femoral bowing, Flexion contracture, Hydroxyprolinuria, Increased susceptibility to fractures, Inguinal hernia, Joint stiffness, Knee flexion contracture, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes equinovarus, Triangular face, Wormian bones
tRG	DHCR24	1.235109738	4.60E-10	Enzyme: Reductase	BrainSpLMD|1718;Eurexp|euxassay_011628|adrenal gland, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lobe, lung, mantle layer, marginal layer, midgut, molar, neural retina, olfactory, pharyngo-tympanic tube, rectum, respiratory, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ	OMIM|606418;HPO|1718|Absent septum pellucidum, Agenesis of corpus callosum, Anteverted nares, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Bifid uvula, Depressed nasal bridge, Failure to thrive, Feeding difficulties, Hydrocephalus, Intellectual disability, Intrauterine growth retardation, Large earlobe, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscle stiffness, Narrow mouth, Nystagmus, Partial agenesis of the corpus callosum, Phenotypic variability, Relative macrocephaly, Retrognathia, Rigidity, Seizures, Severe short stature, Short nose, Spasticity, Status epilepticus, Strabismus, Submucous cleft hard palate, Ventriculomegaly
tRG	MAGI2.AS3	0.945086349	5.09E-10			
tRG	PLTP	1.178001157	5.29E-10	Transport/cargo protein	BrainSpLMD|5360	OMIM|172425
tRG	ITGA6	1.257333688	5.63E-10	Cell surface receptor	BrainSpLMD|3655;Eurexp|euxassay_012071|cortex, incisor, lung, mantle layer, metanephros, molar, pancreas, penis, rectum, ventral grey horn, ventricle	OMIM|147556;HPO|3655|Abdominal distention, Abnormality of the genitourinary system, Anonychia, Aplasia cutis congenita, Aplasia of the bladder, Arthrogryposis multiplex congenita, Atrophic scars, Autosomal recessive inheritance, Axillary pterygia, Congenital onset, Congenital pyloric atresia, Death in infancy, Ectropion, Elevated maternal serum alpha-fetoprotein, Esophageal atresia, Fragile skin, Hematuria, Hydronephrosis, Hypoplasia of dental enamel, Intestinal atresia, Intractable diarrhea, Junctional split, Milia, Nail dysplasia, Nail dystrophy, Nausea and vomiting, Oral mucosal blisters, Polyhydramnios, Recurrent skin infections, Renal duplication, Renal dysplasia, Ureterocele, Urethral stricture, Urinary bladder inflammation
tRG	RFXANK	1.281268921	5.97E-10	Transcription factor	BrainSpLMD|8625	OMIM|603200;HPO|8625|Agammaglobulinemia, Autosomal dominant inheritance, Autosomal recessive inheritance, Biliary tract abnormality, Chronic lymphocytic meningitis, Chronic mucocutaneous candidiasis, Colitis, Cutaneous anergy, Encephalitis, Failure to thrive, Malabsorption, Neutropenia, Panhypogammaglobulinemia, Protracted diarrhea, Recurrent bacterial infections, Recurrent fungal infections, Recurrent lower respiratory tract infections, Recurrent protozoan infections, Recurrent upper respiratory tract infections, Recurrent urinary tract infections, Recurrent viral infections, Villous atrophy, Viral hepatitis
tRG	SEPP1	0.573713966	6.18E-10			
tRG	SH3RF1	0.810584667	6.32E-10	Unclassified	BrainSpLMD|57630;Eurexp|euxassay_016453|mantle layer	
tRG	KDM3A	1.094158522	6.41E-10	Unclassified	BrainSpLMD|55818	OMIM|611512
tRG	ATAD2	0.593651923	6.91E-10	ATPase	BrainSpLMD|29028;Eurexp|euxassay_012771|ventricular layer	OMIM|611941
tRG	RAPGEF2	0.506342888	7.11E-10	Guanine nucleotide exchange factor	BrainSpLMD|9693;Eurexp|euxassay_014449|olfactory	OMIM|609530
tRG	BRD2	0.392378079	7.43E-10	Transcription regulatory protein	BrainSpLMD|6046;Eurexp|euxassay_012809|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mandible, mantle layer, maxilla, orbito-sphenoid, submandibular gland primordium, trigeminal V, vagus X	OMIM|601540
tRG	RIT1	0.40724382	7.87E-10	GTPase	BrainSpLMD|6016;Eurexp|euxassay_012013|Meckel's cartilage, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, orbito-sphenoid, petrous part, rib, scapula, tibia, turbinate	OMIM|609591;HPO|6016|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of the spleen, Abnormality of the sternum, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Coarse hair, Cryptorchidism, Curly hair, Cystic hygroma, Delayed skeletal maturation, Downslanted palpebral fissures, Dysarthria, Enlarged thorax, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Hepatomegaly, High forehead, High palate, Hyperkeratosis, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadotrophic hypogonadism, Joint hyperflexibility, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Micrognathia, Midface retrusion, Muscle weakness, Muscular hypotonia, Pectus carinatum, Pectus excavatum, Polyhydramnios, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Relative macrocephaly, Scoliosis, Short neck, Short stature, Strabismus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Triangular face, Ventricular septal defect, Webbed neck, Wide intermamillary distance
tRG	HSPA9	0.664505573	8.02E-10	Chaperone	BrainSpLMD|3313	OMIM|600548;HPO|3313|Agenesis of corpus callosum, Atopic dermatitis, Autosomal dominant inheritance, Autosomal recessive inheritance, Brachycephaly, Coronal cleft vertebrae, Dysplasia of the femoral head, Epiphyseal dysplasia, High palate, Highly arched eyebrow, Hypodontia, Midface retrusion, Oligohydramnios, Patent foramen ovale, Recurrent urinary tract infections, Renal hypoplasia, Severe short stature, Short neck, Short nose, Sideroblastic anemia, Sparse hair
tRG	P4HA1	1.016419653	8.43E-10	Enzyme: Hydroxylase	BrainSpLMD|5033;Eurexp|euxassay_000584|Meckel's cartilage, axial skeleton, chondrocranium, incisor, limb, molar, nasal capsule, pectoral girdle and thoracic body wall	OMIM|176710
tRG	SCAF11	0.422166819	8.98E-10	RNA binding protein	BrainSpLMD|9169;Eurexp|euxassay_014100|ventricle, ventricular layer	OMIM|603668
tRG	IFT43	0.927707352	9.09E-10	Unclassified	BrainSpLMD|112752	OMIM|614068;HPO|112752|Abnormal diaphysis morphology, Abnormal toenail morphology, Abnormality of the fingernails, Abnormality of the metaphysis, Anteverted nares, Autosomal recessive inheritance, Brachydactyly, Broad nail, Craniosynostosis, Cutis laxa, Dolichocephaly, Dry skin, Ectodermal dysplasia, Epicanthus, Everted lower lip vermilion, Fine hair, Finger syndactyly, Frontal bossing, Hypodontia, Hypoplasia of teeth, Hypotelorism, Joint hyperflexibility, Joint laxity, Microdontia, Narrow chest, Nephronophthisis, Osteoporosis, Pectus excavatum, Prominent occiput, Rhizomelia, Short distal phalanx of finger, Short nail, Short stature, Sparse hair, Syndactyly, Widely spaced teeth
tRG	RCN1	1.428865785	1.10E-09	Calcium binding protein	BrainSpLMD|5954;Eurexp|euxassay_006169|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, peripheral nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|19435	OMIM|602735
tRG	VIMP	0.272063876	1.10E-09			
tRG	ADIPOR2	1.074671105	1.13E-09	Integral membrane protein	BrainSpLMD|79602;Eurexp|euxassay_001439|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X	OMIM|607946
tRG	SDHD	0.626387188	1.17E-09	Enzyme: Dehydrogenase	BrainSpLMD|6392	OMIM|602690;COSMIC||paraganglioma, pheochromocytoma;HPO|6392|Abdominal pain, Abnormal mitochondria in muscle tissue, Abnormality of mitochondrial metabolism, Abnormality of the penis, Adenoma sebaceum, Adult onset, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Breast carcinoma, Cafe-au-lait spot, Cavernous hemangioma, Cerebral hemorrhage, Chemodectoma, Cognitive impairment, Colorectal polyposis, Conductive hearing impairment, Congenital cataract, Congestive heart failure, Conjunctival hamartoma, Cranial nerve paralysis, Decreased activity of mitochondrial complex II, Developmental regression, Dilated cardiomyopathy, Dysphagia, Dystonia, Elevated circulating catecholamine level, Elevated urinary norepinephrine, Episodic hypertension, Episodic paroxysmal anxiety, Exercise intolerance, Flexion contracture, Furrowed tongue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Generalized hyperkeratosis, Global developmental delay, Glomus jugular tumor, Glomus tympanicum paraganglioma, Goiter, Hamartomatous polyposis, Hearing impairment, Hemangioma, Hoarse voice, Hypercalcemia, Hyperhidrosis, Hyperreflexia, Hypertension associated with pheochromocytoma, Hypertensive retinopathy, Hypertrophic cardiomyopathy, Increased intramyocellular lipid droplets, Increased serum lactate, Infantile onset, Intellectual disability, Intestinal carcinoid, Intestinal obstruction, Left ventricular noncompaction, Leukoencephalopathy, Lipoma, Loss of voice, Macrocephaly, Macroglossia, Macule, Melanocytic nevus, Meningioma, Mucosal telangiectasiae, Muscle weakness, Myoclonus, Neonatal hypotonia, Neoplasm, Neoplasm of the gastrointestinal tract, Neoplasm of the thyroid gland, Nystagmus, Ophthalmoplegia, Optic atrophy, Palmoplantar keratoderma, Palpitations, Papilloma, Papule, Paraganglioma, Phenotypic variability, Pheochromocytoma, Pigmentary retinopathy, Positive regitine blocking test, Progressive leukoencephalopathy, Proteinuria, Ptosis, Pulsatile tinnitus, Ragged-red muscle fibers, Recurrent paroxysmal headache, Renal artery stenosis, Renal cell carcinoma, Seizures, Short stature, Spasticity, Stress/infection-induced lactic acidosis, Subcutaneous nodule, Tachycardia, Tinnitus, Uterine leiomyoma, Vagal paraganglioma, Visual impairment, Vocal cord paralysis, Weight loss
tRG	ACTB	0.371699348	1.24E-09	Cytoskeletal protein	BrainSpLMD|60;BrainSpMouseDev|11250	OMIM|102630;HPO|60|Abnormality of metabolism/homeostasis, Achalasia, Agenesis of corpus callosum, Anteverted nares, Aortic valve stenosis, Aphasia, Autosomal dominant inheritance, Autosomal recessive inheritance, Bicuspid aortic valve, Blindness, Cataract, Cerebral cortical hemiatrophy, Chorioretinal coloboma, Cleft palate, Cleft upper lip, Coarse facial features, Cryptorchidism, Death in early adulthood, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Dysphagia, Dysphasia, Echolalia, Epicanthus, Euryblepharon, Externally rotated hips, Failure to thrive, Feeding difficulties, Full cheeks, Generalized dystonia, Generalized hypotonia, Global developmental delay, Growth delay, Heterochromia iridis, High forehead, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplastic scapulae, Immunodeficiency, Intellectual disability, Intellectual disability, mild, Iris coloboma, Joint stiffness, Kyphoscoliosis, Kyphosis, Large fontanelles, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Macroglossia, Macrogyria, Mental deterioration, Microcephaly, Micrognathia, Micromelia, Micropenis, Mild global developmental delay, Mutism, Oral cleft, Osteochondrosis, Overfolded helix, Pachygyria, Patent ductus arteriosus, Pointed chin, Polymicrogyria, Postnatal growth retardation, Prominent epicanthal folds, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Scoliosis, Seizures, Sensorineural hearing impairment, Short columella, Short neck, Short nose, Short stature, Skeletal dysplasia, Small for gestational age, Specific learning disability, Subcortical cerebral atrophy, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Trigonocephaly, Wide mouth, Wide nasal bridge, Wide nose
tRG	TTLL3	0.679892394	1.28E-09	Enzyme: Ligase	BrainSpLMD|26140;Eurexp|euxassay_010602|ventricular layer	
tRG	INTS3	0.879314193	1.31E-09	Unclassified	BrainSpLMD|65123;Eurexp|euxassay_006847|embryo	OMIM|611347
tRG	2-Sep	0.633434722	1.47E-09			
tRG	CAMK2D	0.727465235	1.53E-09	Serine/threonine kinase	BrainSpLMD|817;Eurexp|euxassay_010500|facial VII, glossopharyngeal IX, mantle layer, mesenchyme, olfactory, trigeminal V, vagus X, ventricle, ventricular layer	OMIM|607708
tRG	SLC25A5	0.49271574	1.58E-09	Integral membrane protein		OMIM|300150
tRG	PPP1R15B	0.699253806	1.58E-09	Regulatory/other subunit	BrainSpLMD|84919	OMIM|613257;HPO|84919|Abnormal vertebral morphology, Autosomal recessive inheritance, Brisk reflexes, Delayed puberty, Dysarthria, Fine hair, Gait ataxia, Hearing impairment, High pitched voice, Intellectual disability, severe, Intrauterine growth retardation, Kinetic tremor, Kyphoscoliosis, Microcephaly, Oligodontia, Pectus excavatum, Phenotypic variability, Recurrent hypoglycemia, Seizures, Short stature, Small for gestational age, Sparse hair, Spasticity
tRG	RP11.553L6.5	0.451903137	1.59E-09			
tRG	GNPDA1	0.315051212	1.65E-09	Enzyme: Deaminase	BrainSpLMD|10007	OMIM|601798
tRG	SUGT1	0.334105103	1.66E-09	Cell cycle control protein;Ubiquitin proteasome system protein	BrainSpLMD|10910	OMIM|604098
tRG	TULP3	1.150072932	1.70E-09	Transcription regulatory protein	BrainSpLMD|7289	OMIM|604730
tRG	TAPBP	0.969232579	1.72E-09	Chaperone	BrainSpLMD|6892;Eurexp|euxassay_009813|dorsal root ganglion, facial VII, glossopharyngeal IX, thymus primordium, trigeminal V, ventral grey horn	OMIM|601962;HPO|6892|Autosomal recessive inheritance, Bronchiectasis, Bronchiolitis, Chronic otitis media, Chronic sinusitis, Ectopia lentis, Emphysema, Nasal polyposis, Recurrent bronchitis, Skin ulcer
tRG	DHX40	0.63415776	1.79E-09	ATPase	BrainSpLMD|79665	OMIM|607570
tRG	DARS	0.58710072	1.80E-09	ATPase	BrainSpLMD|1615	OMIM|603084;HPO|1615|Autosomal recessive inheritance, Babinski sign, CNS hypomyelination, Hyperreflexia, Hypoplasia of the corpus callosum, Infantile onset, Leukoencephalopathy, Motor delay, Muscular hypotonia of the trunk, Nystagmus, Progressive, Spasticity
tRG	CDCA7L	1.020259509	1.92E-09	Transcription factor	BrainSpLMD|55536;Eurexp|euxassay_003467|adenohypophysis, epidermis, fundus region, glomeruli, hindgut, left lung, lobe, lumen, lung, marginal layer, midgut, neural retina, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, respiratory, right lung, stomach, submandibular gland primordium, testis, thymus primordium, trachea, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|85297	OMIM|609685
tRG	SFXN5	1.415091315	2.01E-09	Transport/cargo protein	BrainSpLMD|94097;Eurexp|euxassay_014475|ventricular layer	OMIM|615572
tRG	RP11.153M3.1	1.681395105	2.01E-09			
tRG	SREK1	0.54725858	2.05E-09	RNA binding protein	BrainSpLMD|140890	OMIM|609268
tRG	EIF5	0.482252398	2.10E-09	Translation regulatory protein;GTPase activating protein	BrainSpLMD|1983	OMIM|601710
tRG	PRDX6	0.873152289	2.40E-09	Enzyme: Peroxidase	BrainSpLMD|9588;Eurexp|euxassay_018727|floor plate, floorplate, hepatic duct, left lung, liver, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, olfactory, pancreas, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|602316
tRG	TRIP6	1.210053811	2.52E-09	Transcription regulatory protein	BrainSpLMD|7205	OMIM|602933
tRG	SPATA6	1.284216868	2.85E-09	Unclassified	BrainSpLMD|54558	OMIM|613947
tRG	AP1G1	0.608360914	3.07E-09	Transport/cargo protein	BrainSpLMD|164	OMIM|603533
tRG	ATL3	0.651356405	3.15E-09	Unclassified	BrainSpLMD|25923;Eurexp|euxassay_001705|orbito-sphenoid, ventricular layer	OMIM|609369;HPO|25923|Autosomal dominant inheritance, Hallux valgus, Hyperkeratosis, Hyporeflexia of lower limbs, Osteolytic defects of the phalanges of the hand, Osteomyelitis, Sensory axonal neuropathy
tRG	RGS16	0.902633415	3.16E-09	GTPase activating protein	BrainSpLMD|6004;Eurexp|euxassay_006229|diaphragm, dorsal grey horn, lip, mantle layer, marginal layer, mesenchyme, neural retina, skeletal muscle, ventricular layer, vertebral axis muscle system	OMIM|602514
tRG	SELK	0.31226089	3.25E-09			
tRG	EEF1E1	0.941703682	3.32E-09	Translation regulatory protein	BrainSpLMD|9521	OMIM|609206
tRG	TEAD1	0.517305685	3.45E-09	Transcription factor	BrainSpLMD|7003;BrainSpMouseDev|21437	OMIM|189967;HPO|7003|Astigmatism, Autosomal dominant inheritance, Myopia, Peripapillary chorioretinal atrophy, Slow progression
tRG	DIO2	0.820463102	3.74E-09	Enzyme: Oxidoreductase	BrainSpLMD|1734	OMIM|601413
tRG	BTAF1	0.639123598	3.92E-09	Transcription regulatory protein	BrainSpLMD|9044	SFARI||Autism, 6 - Evidence does not support role;OMIM|605191
tRG	FKBP9	0.441646552	4.24E-09	Chaperone	BrainSpLMD|11328;Eurexp|euxassay_007465|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, metatarsus, nasal septum, nucleus pulposus, orbito-sphenoid, otic capsule, phalanx, radius, rib, sternum, temporal bone, thyroid, tibia, turbinate, ulna, vault of skull	OMIM|616257;COSMIC||glioma
tRG	HEY1	0.817213756	4.68E-09	Transcription factor	BrainSpLMD|23462;Eurexp|euxassay_005307|calyces, mandible, maxilla, olfactory, orbito-sphenoid, pituitary, respiratory, thymus primordium, ventricular layer;BrainSpMouseDev|14989	OMIM|602953;COSMIC||mesenchymal chondrosarcoma
tRG	RPL3P7	0.426076018	4.77E-09			
tRG	RPLP0	0.36017542	4.89E-09	Ribosomal subunit	BrainSpLMD|6175	OMIM|180510
tRG	LINC01138	0.947002174	4.97E-09		BrainSpLMD|388685	
tRG	MAP4	0.483983449	4.99E-09	Cytoskeletal associated protein	BrainSpLMD|4134	OMIM|157132
tRG	IRF1	1.231123744	5.30E-09	Transcription regulatory protein	BrainSpLMD|3659;Eurexp|euxassay_003661|midgut, testis, thymus primordium;BrainSpMouseDev|16135	OMIM|147575;HPO|3659|Alveolar cell carcinoma, Autosomal recessive inheritance, Somatic mutation, Stomach cancer
tRG	PPP1R12A	0.537749098	5.48E-09	Regulatory/other subunit	BrainSpLMD|4659	OMIM|602021
tRG	SBDS	0.413548348	5.59E-09	Unclassified	BrainSpLMD|51119	OMIM|607444;COSMIC||AML, MDS;HPO|51119|Abnormality of the metaphysis, Acute myeloid leukemia, Anemia, Autosomal recessive inheritance, Coxa vara, Delayed skeletal maturation, Eczema, Elevated hepatic transaminases, Enlargement of the costochondral junction, Exocrine pancreatic insufficiency, Failure to thrive, Generalized hypotonia, Global developmental delay, Hepatomegaly, Ichthyosis, Intellectual disability, Intellectual disability, mild, Irregular ossification at anterior rib ends, Malabsorption, Metaphyseal chondrodysplasia, Metaphyseal sclerosis, Metaphyseal widening, Myelodysplasia, Myocardial necrosis, Narrow chest, Narrow sacroiliac notch, Neonatal respiratory distress, Nephrocalcinosis, Neutropenia, Osteopenia, Ovoid vertebral bodies, Pancytopenia, Persistence of hemoglobin F, Proximal femoral epiphysiolysis, Recurrent infections, Short stature, Small for gestational age, Specific learning disability, Steatorrhea, Thrombocytopenia
tRG	RP11.386J22.3	0.962911422	5.66E-09			
tRG	ZNF460	1.206673788	6.09E-09	Transcription factor	BrainSpLMD|10794	OMIM|604755
tRG	FILIP1	1.512705068	6.13E-09	Unclassified	BrainSpLMD|27145;Eurexp|euxassay_011444|adrenal gland, wall	OMIM|607307
tRG	RNF180	0.827824478	6.13E-09	Unclassified	Eurexp|euxassay_010508|dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, lens, medulla, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|616015
tRG	OSTC	0.371248726	6.23E-09	Integral membrane protein	BrainSpLMD|58505;Eurexp|euxassay_003969|Meckel's cartilage, clavicle, cranium, rib, turbinate	
tRG	AC068522.4	0.439611035	6.35E-09			
tRG	TLN2	0.590302697	6.55E-09	Cytoskeletal associated protein	BrainSpLMD|83660	OMIM|607349
tRG	WDR1	0.575565418	6.69E-09	Unclassified	BrainSpLMD|9948	OMIM|604734
tRG	PTPRM	1.03859721	6.73E-09	Receptor tyrosine phosphatase	BrainSpLMD|5797;Eurexp|euxassay_010519|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|176888
tRG	METTL16	0.383525116	6.78E-09	Unclassified	BrainSpLMD|79066;Eurexp|euxassay_002736|axial muscle, basal plate, calyces, epidermal component, submandibular gland primordium, ventricular layer	
tRG	JUNB	0.58814664	6.95E-09	Transcription factor	BrainSpLMD|3726	OMIM|165161
tRG	ACVR1	1.223210544	7.14E-09	Receptor serine/threonine kinase	BrainSpLMD|90;Eurexp|euxassay_001869|vibrissa;BrainSpMouseDev|11265	OMIM|102576;COSMIC||DIPG, Fibrodysplasia ossificans progressiva;HPO|90|Abnormal vertebral morphology, Abnormality of the first metatarsal bone, Alopecia, Aplasia/Hypoplasia of the phalanges of the hallux, Autosomal dominant inheritance, Broad femoral neck, Clinodactyly of the 5th finger, Conductive hearing impairment, Ectopic ossification in ligament tissue, Ectopic ossification in muscle tissue, Ectopic ossification in tendon tissue, Hallux valgus, Hearing impairment, Limitation of joint mobility, Metaphyseal widening, Progressive cervical vertebral spine fusion, Respiratory failure, Respiratory insufficiency, Scoliosis, Sensorineural hearing impairment, Short 1st metacarpal, Short hallux, Small cervical vertebral bodies, Spinal rigidity, Subcutaneous nodule, Widely spaced teeth
tRG	PNRC1	0.36978438	7.22E-09	Unclassified	BrainSpLMD|10957	OMIM|606714
tRG	NUFIP2	0.409914911	8.79E-09	RNA binding protein	BrainSpLMD|57532	OMIM|609356
tRG	FAM221A	0.426831963	9.07E-09	Unclassified	BrainSpLMD|340277	
tRG	KCNN3	0.88823458	9.57E-09	Intracellular ligand gated channel	BrainSpLMD|3782	OMIM|602983
tRG	WSCD1	1.574988809	9.65E-09	Integral membrane protein	BrainSpLMD|23302;Eurexp|euxassay_007047|anterior, brain, calyces, cardiac muscle, ductus deferens, incisor, inner ear, mesenchyme, molar, olfactory, optic II, pelvis, posterior, renal/urinary system, retina, spinal cord, thymus primordium, ureter, vagus X, vertebral axis muscle system, vomeronasal organ	
tRG	APOOL	0.604961328	9.91E-09	Unclassified	BrainSpLMD|139322	OMIM|300955
tRG	FAIM	1.068334286	1.13E-08	Unclassified	BrainSpLMD|55179	OMIM|617535
tRG	FAM111A	0.651744362	1.17E-08	Unclassified	BrainSpLMD|63901;Eurexp|euxassay_011616|lobe, mandible, maxilla, orbito-sphenoid, thymus primordium, thyroid, ventricular layer	OMIM|615292;HPO|63901|Abnormality of the medullary cavity of the long bones, Anemia, Aniridia, Ankyloglossia, Ascites, Autosomal dominant inheritance, Basal ganglia calcification, Brachydactyly, Congenital cataract, Delayed closure of the anterior fontanelle, Failure to thrive, Flared metaphysis, Global developmental delay, Hydrocephalus, Hypermetropia, Hypocalcemia, Hypoparathyroidism, Hypoplastic spleen, Increased bone mineral density, Macrocephaly, Micropenis, Microphthalmia, Papilledema, Prominent forehead, Retinal calcification, Seizures, Severe short stature, Short stature, Slender long bone, Small for gestational age, Thickened cortex of long bones, Transient hypophosphatemia
tRG	LRRCC1	0.785265699	1.18E-08	Unclassified	BrainSpLMD|85444;Eurexp|euxassay_007263|Meckel's cartilage, aortic valve, basisphenoid bone, exoccipital bone, mitral valve, orbito-sphenoid, skeletal muscle, temporal bone, tricuspid valve, turbinate bones, vault of skull	OMIM|617791
tRG	ECHDC2	1.338535151	1.21E-08	Unclassified	BrainSpLMD|55268	
tRG	SCP2	0.8512317	1.25E-08	Membrane transport protein	BrainSpLMD|6342	SFARI||Autism, 4 - Minimal evidence;OMIM|184755;HPO|6342|Abnormal motor neuron morphology, Abnormality of saccadic eye movements, Abnormality of thalamus morphology, Autosomal recessive inheritance, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Hyposmia, Intention tremor, Leukoencephalopathy, Peripheral neuropathy, Torticollis
tRG	BICD1	0.387134812	1.29E-08	Transport/cargo protein	BrainSpLMD|636;Eurexp|euxassay_001764|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|11907	OMIM|602204
tRG	PLAGL1	0.813458509	1.39E-08	Transcription regulatory protein	BrainSpLMD|5325;BrainSpMouseDev|22391	OMIM|603044;HPO|5325|Abnormality of earlobe, Abnormality of the pancreatic islet cells, Arthrogryposis multiplex congenita, Bilateral ptosis, Cardiomegaly, Contractures of the joints of the lower limbs, Cryptorchidism, Dehydration, Downturned corners of mouth, Failure to thrive, Generalized myoclonic seizures, Gingival overgrowth, Global developmental delay, Glycosuria, Hepatomegaly, High palate, Hyperglycemia, Hypoplastic fingernail, Hypovolemia, Intellectual disability, Intrauterine growth retardation, Ketonuria, Labial hypertrophy, Macroglossia, Micrognathia, Motor delay, Neonatal insulin-dependent diabetes mellitus, Neonatal respiratory distress, Oligohydramnios, Postnatal growth retardation, Precocious puberty, Prominent metopic ridge, Prominent nose, Prominent occiput, Retrognathia, Shallow orbits, Small anterior fontanelle, Transient neonatal diabetes mellitus, Umbilical hernia, Ventricular septal defect, Weight loss
tRG	ARHGAP21	0.262846514	1.51E-08	GTPase activating protein	BrainSpLMD|57584;Eurexp|euxassay_007662|dorsal root ganglion, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, ventral grey horn	OMIM|609870
tRG	KIAA1407	0.544179914	1.53E-08			
tRG	NDRG4	0.89013471	1.54E-08	Enzyme: Hydrolase;Cell cycle control protein	BrainSpLMD|65009;Eurexp|euxassay_015917|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mantle layer, neural retina, trigeminal V, ventral grey horn, vestibulocochlear VIII	OMIM|614463
tRG	RHOJ	0.691828826	1.54E-08	GTPase	BrainSpLMD|57381;Eurexp|euxassay_002084|alimentary system, cavities and their linings, gland, integumental system, limb, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, tail, vertebral axis muscle system	OMIM|607653
tRG	AKIRIN1	0.724352386	1.56E-08	Unclassified	BrainSpLMD|79647;Eurexp|euxassay_003462|Meckel's cartilage, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, left lung, mantle layer, molar, oesophagus, olfactory, orbito-sphenoid, right lung, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|615164
tRG	ACYP2	0.660903379	1.58E-08	Enzyme: Hydrolase	BrainSpLMD|98;Eurexp|euxassay_000133|myelohyoid, nucleus pulposus, pectoralis major, pectoralis minor, sublingual gland primordium, submandibular gland primordium, trigeminal V, turbinate, vagus X	OMIM|102595
tRG	PDIA6	0.799898272	1.61E-08	Enzyme: Isomerase	BrainSpLMD|10130	OMIM|611099
tRG	HIBCH	0.778854364	1.65E-08	Enzyme: Hydrolase	BrainSpLMD|26275	OMIM|610690;HPO|26275|Abnormal facial shape, Abnormal vertebral morphology, Agenesis of corpus callosum, Aminoaciduria, Autosomal recessive inheritance, Developmental regression, Dysmetria, Dystonia, Epicanthus, Feeding difficulties, Generalized hypotonia, Global developmental delay, Infantile onset, Muscular hypotonia, Myoclonus, Nystagmus, Seizures, Strabismus, Tetralogy of Fallot
tRG	CELSR1	1.054720325	1.69E-08	G protein coupled receptor	BrainSpLMD|9620;BrainSpMouseDev|12399	OMIM|604523
tRG	MAGED1	0.46480605	1.71E-08	Cell cycle control protein	BrainSpLMD|9500;Eurexp|euxassay_012384|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system;BrainSpMouseDev|60907	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300224
tRG	DAZAP2	0.520686055	1.75E-08	RNA binding protein	BrainSpLMD|9802;Eurexp|euxassay_002922|Meckel's cartilage, calyces, incisor, liver, lobe, molar, neural retina, olfactory, pancreas, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|607431
tRG	FABP5P1	0.412000898	1.88E-08			
tRG	RANBP2	0.337205792	1.94E-08	Transport/cargo protein	BrainSpLMD|5903;Eurexp|euxassay_016512|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|601181;COSMIC||inflammatory myofibroblastic tumour
tRG	SNRPB	0.385222519	2.11E-08	RNA binding protein	BrainSpLMD|6628	OMIM|182282;HPO|6628|11 pairs of ribs, Abnormality of the dentition, Anomalous rib insertion to vertebrae, Anomalous tracheal cartilage, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Calcaneal epiphyseal stippling, Cleft palate, Cleft soft palate, Clinodactyly of the 5th finger, Conductive hearing impairment, Congenital hip dislocation, Death in infancy, Ectopic kidney, Elbow flexion contracture, Epicanthus, Feeding difficulties, Gastroesophageal reflux, Glossoptosis, High palate, Horseshoe kidney, Intellectual disability, Intrauterine growth retardation, Kyphosis, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Nasal speech, Neonatal respiratory distress, Patent ductus arteriosus, Polyhydramnios, Porencephalic cyst, Posterior rib gap, Posteriorly rotated ears, Postnatal growth retardation, Renal cyst, Scoliosis, Short hard palate, Short humerus, Short stature, Thoracic hypoplasia, Tracheomalacia, Ventricular septal defect, Webbed neck
tRG	SWAP70	0.808618036	2.18E-08	Guanine nucleotide exchange factor	BrainSpLMD|23075	OMIM|604762
tRG	ETV1	0.703763676	2.20E-08	Transcription factor	BrainSpLMD|2115;BrainSpMouseDev|13786	OMIM|600541;COSMIC||Ewing sarcoma, prostate
tRG	ATXN7	0.919831034	2.33E-08	Unclassified	BrainSpLMD|6314;Eurexp|euxassay_007505|alimentary system, cardiovascular system, cavities and their linings, ganglion, gland, integumental system, limb, mantle layer, mesenchyme, nerve, peripheral nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system	SFARI||Autism, 5 - Hypothesized but untested;OMIM|607640;HPO|6314|Abnormality of extrapyramidal motor function, Autosomal dominant inheritance, Babinski sign, Chorea, Dysmetria, Dysphagia, Genetic anticipation with paternal anticipation bias, Macular degeneration, Olivopontocerebellar atrophy, Orofacial dyskinesia, Pigmentary retinal degeneration, Progressive visual loss, Slow saccadic eye movements, Spasticity, Supranuclear ophthalmoplegia
tRG	HELB	1.222197461	2.42E-08	DNA helicase	BrainSpLMD|92797	OMIM|614539
tRG	RNF141	1.24348387	2.56E-08	Transcription factor	BrainSpLMD|50862	OMIM|616641
tRG	HELLS	0.261515926	2.62E-08	DNA binding protein	BrainSpLMD|3070	OMIM|603946;HPO|3070|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Congenital onset, Decreased antibody level in blood, Depressed nasal bridge, Epicanthus, Global developmental delay, Hypertelorism, Intellectual disability, Lymphopenia, Macrocephaly, Malabsorption, Micrognathia, Recurrent infections, Recurrent respiratory infections, Short stature
tRG	NELL1	0.894027326	2.64E-08	Enzyme: Oxidoreductase	BrainSpLMD|4745	SFARI||Autism, No category;OMIM|602319
tRG	VGLL4	0.628495661	2.90E-08	Transcription regulatory protein	BrainSpLMD|9686;Eurexp|euxassay_000238|incisor, lung, molar, submandibular gland primordium, vibrissa	
tRG	NR1D2	1.257443669	2.99E-08	Nuclear receptor	BrainSpLMD|9975;BrainSpMouseDev|110666	OMIM|602304
tRG	CLNS1A	0.384615031	3.11E-08	Transport/cargo protein	BrainSpLMD|1207	OMIM|602158
tRG	LPCAT1	0.533872652	3.21E-08	Enzyme: Acyltransferase	BrainSpLMD|79888	OMIM|610472
tRG	RPA1	0.930564612	3.27E-08	DNA binding protein	BrainSpLMD|6117;Eurexp|euxassay_008207|ventricular layer	OMIM|179835
tRG	CSTB	0.493793158	3.35E-08	Protease inhibitor	BrainSpLMD|1476;Eurexp|euxassay_009738|bladder, mandible, maxilla, stomach, thymus primordium	OMIM|601145;HPO|1476|Absence seizures, Ataxia, Autosomal recessive inheritance, Dysarthria, EEG with polyspike wave complexes, Generalized tonic-clonic seizures, Intention tremor, Limb ataxia, Mental deterioration, Morning myoclonic jerks, Myoclonus
tRG	SCAMP2	0.753596598	3.42E-08	Membrane transport protein	BrainSpLMD|10066	OMIM|606912
tRG	ATP6V0E1	0.432991515	3.51E-08	ATPase	BrainSpLMD|8992;Eurexp|euxassay_002321|Meckel's cartilage, basisphenoid bone, orbito-sphenoid, turbinate	OMIM|603931
tRG	SETBP1	0.527740403	3.51E-08	Transcription regulatory protein	BrainSpLMD|26040	SFARI||Autism, 3 - Suggestive evidence;OMIM|611060;COSMIC||aCML, sAML, MDS/MPN-U, CMML, JMML, neuroepithelial tumours;HPO|26040|Abnormality of the nasopharynx, Absent speech, Anteverted nares, Aplasia/Hypoplasia of the pubic bone, Atrial septal defect, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bicornuate uterus, Brachycephaly, Broad ribs, Cerebral atrophy, Choanal stenosis, Coarse facial features, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Facial hemangioma, Failure to thrive, Hepatoblastoma, High forehead, High palate, Hydronephrosis, Hydroureter, Hyperconvex nail, Hypertelorism, Hypertrichosis, Hypoplasia of first ribs, Hypoplasia of the corpus callosum, Hypoplastic labia majora, Hypoplastic labia minora, Hypoplastic nipples, Hypospadias, Hypsarrhythmia, Increased density of long bones, Intellectual disability, Long clavicles, Long face, Low-set ears, Macroglossia, Malar flattening, Metopic suture patent to nasal root, Micropenis, Midface retrusion, Motor delay, Narrow palate, Opisthotonus, Pointed chin, Postaxial hand polydactyly, Postnatal growth retardation, Prominent forehead, Ptosis, Sacrococcygeal teratoma, Sclerosis of skull base, Scrotal hypoplasia, Seizures, Shallow orbits, Short 1st metacarpal, Short distal phalanx of finger, Short neck, Short nose, Short sternum, Single transverse palmar crease, Sloping forehead, Synophrys, Talipes equinovarus, Thickened cortex of long bones, Thin upper lip vermilion, Tibial bowing, Ureteral stenosis, Ventriculomegaly, Wide distal femoral metaphysis, Widely patent fontanelles and sutures, Wormian bones
tRG	BCL6	1.236592294	4.00E-08	Transcription factor	BrainSpLMD|604;BrainSpMouseDev|11839	OMIM|109565;COSMIC||NHL, CLL;HPO|604|Fatigue, Fever, Lymphoma, Mediastinal lymphadenopathy, Night sweats, Splenomegaly, Weight loss
tRG	SSBP1	0.36117417	4.04E-08	DNA binding protein	BrainSpLMD|6742;Eurexp|euxassay_001696|cortex, oesophagus, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|600439
tRG	MLC1	0.792685566	4.20E-08	Membrane transport protein	BrainSpLMD|23209;Eurexp|euxassay_010374|ventricular layer	OMIM|605908;HPO|23209|Ataxia, Autosomal recessive inheritance, Diffuse spongiform leukoencephalopathy, Diffuse swelling of cerebral white matter, Infantile onset, Intellectual disability, mild, Macrocephaly, Megalencephaly, Motor delay, Seizures, Spasticity
tRG	NBPF11	0.27168419	4.24E-08	Unclassified	BrainSpLMD|200030	OMIM|614001
tRG	ERBB2IP	0.48309352	4.30E-08			
tRG	NIFK	0.808528457	4.38E-08	RNA binding protein	BrainSpLMD|84365	OMIM|611970
tRG	FHL1	0.437305634	4.72E-08	Unclassified	BrainSpLMD|2273;Eurexp|euxassay_018418|bladder, brain, diaphragm, dorsal root ganglion, head mesenchyme, limb, penis, rectum, spinal cord, tongue, vertebral axis muscle system	OMIM|300163;HPO|2273|Adult onset, Areflexia, Arrhythmia, Back pain, Elevated serum creatine phosphokinase, Flexion contracture, Foot dorsiflexor weakness, Frequent falls, Hyperlordosis, Hypertrophic cardiomyopathy, Hyporeflexia, Increased variability in muscle fiber diameter, Kyphosis, Lower limb muscle weakness, Myofibrillar myopathy, Progressive, Proximal muscle weakness, Rapidly progressive, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Rimmed vacuoles, Scapular winging, Scapuloperoneal myopathy, Scapuloperoneal weakness, Scoliosis, Short neck, Skeletal muscle atrophy, Spinal rigidity, Steppage gait, Waddling gait, X-linked dominant inheritance, X-linked inheritance, X-linked recessive inheritance
tRG	MDM2	0.463587409	4.88E-08	Ubiquitin proteasome system protein	BrainSpLMD|4193;Eurexp|euxassay_006190|embryo	OMIM|164785;COSMIC||sarcoma, glioma, colorectal, other tumour types;HPO|4193|Breast carcinoma, Lymphoma, Neoplasm of the adrenal cortex, Neoplasm of the colon, Neoplasm of the nervous system, Neoplasm of the pancreas, Neoplasm of the skin, Osteosarcoma, Progressive encephalopathy, Subcutaneous nodule
tRG	C3orf58	0.573584	4.96E-08	Unclassified	BrainSpLMD|205428	SFARI||Autism, 4 - Minimal evidence;OMIM|612200
tRG	H6PD	1.684711706	5.02E-08	Enzyme: Dehydrogenase	BrainSpLMD|9563	OMIM|138090;HPO|9563|Acne, Autosomal recessive inheritance, Hirsutism, Infertility, Obesity, Oligomenorrhea
tRG	TNKS2	0.339709058	5.06E-08	Enzyme: Ribosyltransferase	BrainSpLMD|80351;Eurexp|euxassay_008543|vibrissa	OMIM|607128
tRG	TANC1	0.681858341	5.59E-08	Unclassified	Eurexp|euxassay_012462|mandible, maxilla, metanephros, ventricular layer	OMIM|611397
tRG	CYP20A1	0.473463739	5.68E-08	Enzyme: Oxygenase	BrainSpLMD|57404;Eurexp|euxassay_012299|mandible, mantle layer, maxilla, orbito-sphenoid	
tRG	PTPN14	1.091175223	5.81E-08	Tyrosine phosphatase	BrainSpLMD|5784;Eurexp|euxassay_009623|axial skeleton, metanephros, nasal septum, oesophagus, submandibular gland primordium, vibrissa	OMIM|603155;HPO|5784|Autosomal recessive inheritance, Choanal atresia, High palate, Lymphedema, Pericardial effusion
tRG	HSPA14	0.769808348	6.35E-08	Chaperone	BrainSpLMD|51182	OMIM|610369
tRG	PARD6B	1.137771812	6.58E-08	Adapter molecule	BrainSpLMD|84612	OMIM|608975
tRG	ZDHHC4	1.127939696	6.67E-08	Integral membrane protein	BrainSpLMD|55146	
tRG	QTRTD1	1.221955698	6.81E-08			
tRG	HBP1	0.763045359	6.85E-08	Transcription factor	BrainSpLMD|26959;BrainSpMouseDev|49230	OMIM|616714
tRG	GOLM1	0.376538295	7.01E-08	Transport/cargo protein	BrainSpLMD|51280;Eurexp|euxassay_002445|rectum	OMIM|606804
tRG	FDPS	0.397322081	7.14E-08	Enzyme: Prenyltransferase	BrainSpLMD|2224;Eurexp|euxassay_005185|adenohypophysis, adrenal gland, axial skeleton, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, limb, liver, lung, mandible, maxilla, mesenchyme, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, paraxial mesenchyme, rectum, retina, skeletal muscle, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|134629;HPO|2224|Cutaneous photosensitivity, Porokeratosis
tRG	SF3A1	0.967492051	7.32E-08	RNA binding protein	BrainSpLMD|10291	OMIM|605595
tRG	GTF3C6	0.290551474	7.74E-08	Unclassified	BrainSpLMD|112495	OMIM|611784
tRG	ACAT2	0.339978799	7.79E-08	Enzyme: Acyltransferase	BrainSpLMD|39;Eurexp|euxassay_010142|brain, cervical, cervico-thoracic, chondrocranium, dorsal root ganglion, facial VII, foregut-midgut junction, glomeruli, glossopharyngeal IX, head mesenchyme, hindgut, incisor, left lung, liver, lobe, marginal layer, mesenchyme, metanephros, midgut, neural retina, right lung, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|100678;HPO|39|Chorea, Generalized hypotonia, Global developmental delay, Increased serum lactate, Increased serum pyruvate, Sporadic
tRG	STK3	0.724710071	8.11E-08	Serine/threonine kinase	BrainSpLMD|6788	OMIM|605030
tRG	CNTN3	1.102509454	8.38E-08	Immunoglobulin	Eurexp|euxassay_009023|mantle layer, marginal layer, ventral grey horn;BrainSpMouseDev|18254	SFARI||Autism, No category;OMIM|601325
tRG	USP46	0.670315239	9.00E-08	Ubiquitin proteasome system protein	BrainSpLMD|64854	OMIM|612849
tRG	ITGB1	0.615666807	9.12E-08	Cell surface receptor	BrainSpLMD|3688;Eurexp|euxassay_010970|aorta, bladder, clavicle, floor plate, floorplate, lung, mandible, maxilla, midgut, oesophagus, orbito-sphenoid, rib, stomach, submandibular gland primordium;BrainSpMouseDev|16185	OMIM|135630
tRG	EIF4G3	0.271485232	9.94E-08	Translation regulatory protein	BrainSpLMD|8672;Eurexp|euxassay_016776|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII	OMIM|603929
tRG	HYDIN	1.526527837	9.94E-08	Unclassified	BrainSpLMD|54768;Eurexp|euxassay_013571|choroid invagination, choroid plexus, roof plate	SFARI||Autism, 4 - Minimal evidence;OMIM|610812;HPO|54768|Autosomal recessive inheritance, Bronchiectasis, Ciliary dyskinesia, Infantile onset, Nasal polyposis, Recurrent bronchitis, Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Respiratory insufficiency due to defective ciliary clearance, Rhinitis
tRG	IGFBP5	0.682773651	1.01E-07	Adhesion molecule	BrainSpLMD|3488;Eurexp|euxassay_001623|limb, tail, vertebral axis muscle system;BrainSpMouseDev|15784	OMIM|146734
tRG	ATP10D	1.037346419	1.01E-07	ATPase	BrainSpLMD|57205	
tRG	MMAB	0.747140516	1.02E-07	Enzyme: Adenosyltransferase	BrainSpLMD|326625	OMIM|607568;HPO|326625|Anemia, Autosomal recessive inheritance, Coma, Decreased adenosylcobalamin, Decreased methylmalonyl-CoA mutase activity, Dehydration, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Ketonuria, Ketosis, Lethargy, Metabolic acidosis, Methylmalonic acidemia, Methylmalonic aciduria, Neonatal onset, Neutropenia, Pancytopenia, Respiratory distress, Thrombocytopenia, Vomiting
tRG	CAST	0.551720405	1.03E-07	Protease inhibitor	BrainSpLMD|831	OMIM|114090;HPO|831|Angular cheilitis, Autosomal recessive inheritance, Epidermal acanthosis, Leukonychia, Palmoplantar keratoderma, Scaling skin
tRG	CDC73	0.840603824	1.03E-07	Unclassified	BrainSpLMD|79577	OMIM|607393;COSMIC||parathyroid adenoma, parathyroid adenoma, multiple ossifying jaw fibroma;HPO|79577|Autosomal dominant inheritance, Chondrocalcinosis, Dysphagia, Elevated circulating parathyroid hormone level, Fatigue, Fibroma, Generalized osteoporosis, Hoarse voice, Hypercalcemia, Hypercalciuria, Hyperparathyroidism, Hyperphosphaturia, Hypophosphatemia, Infantile hypercalcemia, Nephrocalcinosis, Nephrolithiasis, Osteopenia, Osteoporosis, Parathyroid adenoma, Parathyroid carcinoma, Polydipsia, Primary hyperparathyroidism, Shortened QT interval, Somatic mutation, Uterine leiomyoma, Weight loss
tRG	UBE2H	0.627746005	1.04E-07	Ubiquitin proteasome system protein	BrainSpLMD|7328	SFARI||Autism, 4 - Minimal evidence;OMIM|601082
tRG	TMEM41B	0.630545615	1.05E-07	Integral membrane protein		
tRG	PPP1R15A	0.50439355	1.06E-07	Cell cycle control protein	BrainSpLMD|23645	OMIM|611048
tRG	SIPA1L1	0.475739608	1.11E-07	GTPase activating protein	BrainSpLMD|26037	OMIM|617504
tRG	ING3	0.265375506	1.12E-07	Cell cycle control protein	BrainSpLMD|54556	OMIM|607493
tRG	KIF5B	0.298744675	1.14E-07	Motor protein	BrainSpLMD|3799;Eurexp|euxassay_019750|olfactory	OMIM|602809;COSMIC||NSCLC, Spitzoid tumour
tRG	TUFT1	0.913302049	1.16E-07	Extracellular matrix protein	BrainSpLMD|7286;Eurexp|euxassay_015745|incisor, laryngeal, molar, olfactory, oral epithelium, vibrissa	OMIM|600087
tRG	GINS2	0.793756377	1.19E-07	Unclassified	BrainSpLMD|51659	OMIM|610609
tRG	AC016739.2	0.374741423	1.20E-07			
tRG	NCSTN	1.069463	1.22E-07	Integral membrane protein	BrainSpLMD|23385;BrainSpMouseDev|37711	OMIM|605254;HPO|23385|Acne inversa, Atypical scarring of skin, Autosomal dominant inheritance
tRG	PPT1	0.804952247	1.22E-07	Enzyme: Hydrolase	BrainSpLMD|5538;Eurexp|euxassay_018600|primitive seminiferous tubules, thymus primordium, ventricular layer	OMIM|600722;HPO|5538|Abnormality of metabolism/homeostasis, Ataxia, Autosomal recessive inheritance, Blindness, Cerebral atrophy, Decreased light- and dark-adapted electroretinogram amplitude, Depressivity, EEG abnormality, Flexion contracture, Generalized hypotonia, Global developmental delay, Hallucinations, Increased neuronal autofluorescent lipopigment, Intellectual disability, Irritability, Loss of speech, Macular degeneration, Myoclonus, Onset, Optic atrophy, Postnatal microcephaly, Progressive microcephaly, Progressive visual loss, Psychomotor deterioration, Retinal degeneration, Seizures, Sleep disturbance, Spasticity, Undetectable electroretinogram
tRG	GTF2F2	0.602916732	1.24E-07	Transcription factor	BrainSpLMD|2963	OMIM|189969
tRG	RPLP1	0.258704568	1.25E-07	Ribosomal subunit		OMIM|180520
tRG	CTB.63M22.1	0.366887937	1.28E-07			
tRG	PPIL4	0.626908111	1.29E-07	Chaperone	BrainSpLMD|85313	OMIM|607609
tRG	MT2A	0.706554054	1.32E-07	Unclassified	Eurexp|euxassay_004529|left, oesophagus, pancreas, pharyngo-tympanic tube, right, stomach, submandibular gland primordium, thyroid, vibrissa	OMIM|156360
tRG	PAN3	0.311011988	1.33E-07	Ribonuclease	BrainSpLMD|255967	OMIM|617448
tRG	TANC2	0.498289037	1.34E-07	Unclassified		SFARI||Autism, 4 - Minimal evidence;OMIM|615047
tRG	PNPLA8	0.635334213	1.34E-07	Enzyme: Phospholipase	BrainSpLMD|50640	OMIM|612123;HPO|50640|Autosomal recessive inheritance, Dysarthria, Dysmetria, Dystonia, Episodic vomiting, Focal seizures with impairment of consciousness or awareness, Generalized hypotonia, Gowers sign, Hemiparesis, Hyperalaninemia, Increased serum lactate, Increased serum pyruvate, Infantile onset, Lactic acidosis, Mitochondrial myopathy, Moderate sensorineural hearing impairment, Postnatal growth retardation, Progressive, Spasticity, Toe walking
tRG	CDC14B	0.453384696	1.38E-07	Dual specificity phosphatase	BrainSpLMD|8555	OMIM|603505
tRG	ARF4	0.46736648	1.40E-07	Transport/cargo protein	BrainSpLMD|378;Eurexp|euxassay_000003|arm, associated mesenchyme, axial skeleton, basal columns, clavicle, dermal component, diaphragm, dorsal root ganglion, duodenum, epidermal component, epithelium, facial VII, femur, floor plate, floorplate, foregut, forelimb, frontal bone primordium, glandular mucous membrane, hindlimb, hypoglossal XII, intervertebral disc, leg, limb, lower jaw, mandible, medullary raphe, mesenchyme, nasal capsule, nasal cavity, nasal septum, neural retina, nose, oculomotor III, olfactory, oral epithelium, oral region, pectoral girdle and thoracic body wall, petrous part, pons, skeleton, spinal cord, stomach, stroma, submandibular gland primordium, tibia, trigeminal V, turbinate bones, vagus X, vertebral cartilage condensation, vibrissa	OMIM|601177
tRG	AHCY	0.990748144	1.42E-07	Enzyme: Hydrolase	BrainSpLMD|191;Eurexp|euxassay_008402|embryo	OMIM|180960;HPO|191|Abnormal facial shape, Abnormality of the dentition, Autosomal recessive inheritance, Cardiomyopathy, Failure to thrive, Global developmental delay, Hypermethioninemia, Intellectual disability, Motor delay
tRG	HSP90AA1	0.432452991	1.43E-07	Chaperone	BrainSpLMD|3320;Eurexp|euxassay_010007|cervical, cervico-thoracic, choroid plexus, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, mandible, mantle layer, midgut, molar, neural retina, olfactory, pancreas, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, vagus X, ventral grey horn, ventricular layer, vomeronasal organ	OMIM|140571;COSMIC||NHL
tRG	MOB1A	0.428323227	1.45E-07	Unclassified	BrainSpLMD|55233	OMIM|609281
tRG	DAG1	0.797543546	1.49E-07	Adhesion molecule	BrainSpLMD|1605	OMIM|128239;HPO|1605|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Absent septum pellucidum, Absent speech, Agenesis of corpus callosum, Ankle contracture, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Autosomal recessive inheritance, Buphthalmos, Cataract, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral calcification, Chorioretinal dysplasia, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Delayed speech and language development, Elevated serum creatine phosphokinase, Generalized hypotonia, Glaucoma, Global developmental delay, Gowers sign, Hydrocephalus, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hyporeflexia, Infantile onset, Intellectual disability, Leukodystrophy, Limb-girdle muscle weakness, Lissencephaly, Lumbar hyperlordosis, Macrocephaly, Macrogyria, Metatarsus valgus, Microphthalmia, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Myopia, Optic atrophy, Pachygyria, Polymicrogyria, Poor head control, Respiratory failure, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Skeletal muscle atrophy, Specific learning disability, Variable expressivity, Ventriculomegaly
tRG	HDAC4	0.31633286	1.50E-07	Transcription regulatory protein	BrainSpLMD|9759;Eurexp|euxassay_006864|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, thymus primordium, thyroid, trigeminal V, vagus X, vibrissa	SFARI||Autism, No category;OMIM|605314;HPO|9759|Anteverted nares, Bilateral single transverse palmar creases, Brachydactyly, Broad columella, Clinodactyly of the 5th finger, Deeply set eye, Depressed nasal bridge, Downturned corners of mouth, Eczema, Finger syndactyly, Frontal bossing, Global developmental delay, Highly arched eyebrow, Intellectual disability, Joint hyperflexibility, Microcephaly, Midface retrusion, Muscular hypotonia, Obesity, Round face, Seizures, Short foot, Short metacarpal, Short palm, Short stature, Small hand, Sparse and thin eyebrow, Sparse scalp hair, Supernumerary nipple, Thin vermilion border, Toe syndactyly, Umbilical hernia, Underdeveloped nasal alae, Upslanted palpebral fissure, Wide intermamillary distance
tRG	TECR	0.528002331	1.51E-07	Enzyme: Reductase	BrainSpLMD|9524;Eurexp|euxassay_004555|cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, marginal layer, neural retina, nucleus pulposus, rib, right lung, stroma, submandibular gland primordium, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610057;HPO|9524|Autosomal recessive inheritance, Delayed speech and language development, Intellectual disability, Narrow palate
tRG	ACOT9	1.178603951	1.52E-07	Enzyme: Esterase	BrainSpLMD|23597;Eurexp|euxassay_001726|dorsal root ganglion, trigeminal V, vagus X	OMIM|300862
tRG	SRRM2	0.423713821	1.52E-07	RNA binding protein	BrainSpLMD|23524;Eurexp|euxassay_008167|embryo	OMIM|606032
tRG	FAT1	0.533287939	1.55E-07	Adhesion molecule	BrainSpLMD|2195;Eurexp|euxassay_013462|axial skeleton, lung, mandible, maxilla, mesenchyme, rest of mesenchyme, sternum, submandibular gland primordium, vibrissa;BrainSpMouseDev|13884	SFARI||Autism, No category;OMIM|600976;COSMIC||oral squamous cell, chemorefractory CLL, head and neck, pancreatic acinar cell carcinoma, pancreatic
tRG	SMAD3	0.910704807	1.55E-07	Transcription regulatory protein	BrainSpLMD|4088;Eurexp|euxassay_002759|dorsal grey horn, oesophagus, pharyngo-tympanic tube, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|16897	OMIM|603109;COSMIC||colorectal carcinoma, oral squamous cell carcinoma;HPO|4088|Abnormality of the iris, Abnormality of the sternum, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Arachnodactyly, Arterial tortuosity, Ascending aortic dissection, Atrial fibrillation, Autosomal dominant inheritance, Bruising susceptibility, Camptodactyly, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Dental malocclusion, Descending aortic dissection, Dural ectasia, Exertional dyspnea, High palate, Hip osteoarthritis, Hypertelorism, Hypertension, Inguinal hernia, Intervertebral disc degeneration, Joint laxity, Knee osteoarthritis, Left ventricular failure, Left ventricular hypertrophy, Mitral regurgitation, Mitral valve prolapse, Osteochondritis Dissecans, Paroxysmal dyspnea, Pes planus, Protrusio acetabuli, Scoliosis, Spondylolisthesis, Striae distensae, Umbilical hernia, Uterine prolapse
tRG	ERI3	0.72136513	1.59E-07	Unclassified	BrainSpLMD|79033	OMIM|609917
tRG	CCDC181	0.92438989	1.72E-07	Unclassified	BrainSpLMD|57821;Eurexp|euxassay_004163|3rd ventricle, 4th ventricle, choroid invagination	
tRG	CA12	1.074528652	1.76E-07	Enzyme: Carbonic anhydrase	BrainSpLMD|771;Eurexp|euxassay_018906|choroid plexus, clavicle, epithelium, incisor, molar, nasal septum, olfactory, oral epithelium, submandibular gland primordium, vibrissa	OMIM|603263;HPO|771|Autosomal dominant inheritance, Autosomal recessive inheritance, Dehydration, Failure to thrive, Feeding difficulties, Hyperkalemia, Hyponatremia, Infantile onset
tRG	EIF1AX	0.369838303	1.78E-07	Translation regulatory protein	BrainSpLMD|1964	OMIM|300186;COSMIC||uveal melanoma, thyroid cancer (PDTC and ATC), low grade serous ovarian cancer
tRG	RPL36	0.277618248	1.81E-07	Ribosomal subunit	BrainSpLMD|25873	
tRG	SNHG6	0.447854376	1.84E-07			OMIM|612215
tRG	CBX6	0.292308647	2.08E-07	DNA binding protein	BrainSpLMD|23466	OMIM|617438
tRG	MED28	0.46355767	2.08E-07	Transcription regulatory protein	BrainSpLMD|80306	OMIM|610311
tRG	TULP2	0.586518316	2.09E-07	Transcription regulatory protein	BrainSpLMD|7288	OMIM|602309
tRG	TOM1L2	0.363762628	2.19E-07	Transport/cargo protein	BrainSpLMD|146691	OMIM|615519
tRG	USP8	0.671116454	2.23E-07	Ubiquitin proteasome system protein	BrainSpLMD|9101	OMIM|603158;COSMIC||corticotroph adenoma;HPO|9101|Abdominal obesity, Abnormal fear/anxiety-related behavior, Acne, Adrenal hyperplasia, Alkalosis, Anxiety, Biconcave vertebral bodies, Bruising susceptibility, Depressivity, Diabetes mellitus, Edema, Facial erythema, Failure to thrive, Fatigue, Generalized hirsutism, Glucose intolerance, Hirsutism, Hypertension, Hypokalemia, Immunodeficiency, Increased circulating ACTH level, Infertility, Kyphosis, Lipodystrophy, Menorrhagia, Metrorrhagia, Mood changes, Nephrolithiasis, Oligomenorrhea, Osteoporosis, Pituitary adenoma, Poor wound healing, Psychotic mentation, Purpura, Recurrent fractures, Round face, Skeletal muscle atrophy, Striae distensae, Thin skin, Truncal obesity, Vertebral compression fractures
tRG	CNTFR	1.013936799	2.25E-07	Cell surface receptor	BrainSpLMD|1271	OMIM|118946
tRG	CRK	0.562659774	2.27E-07	Adapter molecule	BrainSpLMD|1398	OMIM|164762
tRG	CNP	0.449639636	2.36E-07	Enzyme: Phosphodiesterase	BrainSpLMD|1267;BrainSpMouseDev|12582	OMIM|123830
tRG	TMEM163	1.475377615	2.39E-07	Unclassified	BrainSpLMD|81615	
tRG	GSTK1	0.692130771	2.42E-07	Enzyme: Glutathione transferase	BrainSpLMD|373156	OMIM|602321
tRG	PARP14	1.307573461	2.48E-07	Unclassified	BrainSpLMD|54625	OMIM|610028
tRG	KCNH7	0.768759985	2.54E-07	Voltage gated channel	BrainSpLMD|90134;BrainSpMouseDev|82041	OMIM|608169
tRG	PFKFB3	0.898740841	2.57E-07	Enzyme: Phosphatase	BrainSpLMD|5209;Eurexp|euxassay_018400|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, incisor, neural retina, orbito-sphenoid, otic capsule, pelvic girdle, rib, scapula, temporal bone, tibia, turbinate, vibrissa	OMIM|605319
tRG	SORT1	0.758255107	2.58E-07	Cell surface receptor	BrainSpLMD|6272;BrainSpMouseDev|20423	OMIM|602458
tRG	APOA1BP	0.869248721	2.72E-07			
tRG	WDR35	0.693236582	2.73E-07	Unclassified	BrainSpLMD|57539	OMIM|613602;HPO|57539|Abdominal distention, Abnormal diaphysis morphology, Abnormal pelvis bone ossification, Abnormal toenail morphology, Abnormality of cardiovascular system morphology, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormality of the pinna, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Anteverted nares, Autosomal recessive inheritance, Blepharophimosis, Bowing of the long bones, Brachydactyly, Cleft upper lip, Congenital hepatic fibrosis, Craniosynostosis, Cryptorchidism, Cystic hygroma, Depressed nasal bridge, Disproportionate short-limb short stature, Dolichocephaly, Ectodermal dysplasia, Epicanthus, Everted lower lip vermilion, Finger syndactyly, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypertelorism, Hypodontia, Hypoplasia of penis, Hypoplastic scapulae, Hypospadias, Hypotelorism, Inguinal hernia, Joint hyperflexibility, Joint laxity, Lethal skeletal dysplasia, Long philtrum, Low-set ears, Macrocephaly, Microdontia, Micrognathia, Micromelia, Narrow chest, Osteoporosis, Pectus excavatum, Polycystic kidney dysplasia, Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Prominent occiput, Pulmonary hypoplasia, Renal cyst, Renal hypoplasia, Respiratory insufficiency, Rhizomelia, Short distal phalanx of finger, Short foot, Short long bone, Short neck, Short palm, Short ribs, Short thorax, Sparse hair, Syndactyly, Telecanthus, Thoracic dysplasia, Urethrovaginal fistula, Uterus didelphys, Wide nose, Widely spaced teeth
tRG	RPL10A	0.304398692	2.73E-07	Ribosomal subunit		OMIM|615660
tRG	ST13P5	0.350120535	2.74E-07	-		
tRG	C1orf198	1.153506164	2.85E-07	Unclassified	BrainSpLMD|84886;Eurexp|euxassay_016413|dorsal root ganglion, neural retina, ventral grey horn, ventricular layer	
tRG	DYNC2H1	0.734621693	2.98E-07	Motor protein	Eurexp|euxassay_014017|olfactory, ventricular layer	OMIM|603297;HPO|79659|Abdominal distention, Abnormal pelvis bone ossification, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Brachydactyly, Cleft upper lip, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypoplasia of penis, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Narrow chest, Postaxial hand polydactyly, Renal hypoplasia, Respiratory insufficiency, Short foot, Short palm, Short ribs, Short thorax, Skeletal dysplasia, Urethrovaginal fistula, Uterus didelphys, Wide nose
tRG	OSBPL6	0.623346862	3.07E-07	Transport/cargo protein	BrainSpLMD|114880;Eurexp|euxassay_000065|adrenal gland, cerebral cortex, dorsal root ganglion, epithelium, excretory component, facial VII, glossopharyngeal IX, hypothalamus, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lateral wall, nasal cavity, neural retina, oesophagus, olfactory lobe, pituitary, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa	OMIM|606734
tRG	IVD	0.63603185	3.08E-07	Enzyme: Dehydrogenase	BrainSpLMD|3712	OMIM|607036;HPO|3712|Autosomal recessive inheritance, Bone marrow hypocellularity, Coma, Dehydration, Global developmental delay, Hyperglycinuria, Ketoacidosis, Lethargy, Leukopenia, Metabolic acidosis, Pancytopenia, Seizures, Thrombocytopenia, Vomiting
tRG	MAFG	0.886560668	3.11E-07	Transcription factor	BrainSpLMD|4097;Eurexp|euxassay_019502|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, liver, lung, mantle layer, metanephros, midgut, molar, olfactory, stomach, submandibular gland primordium, testis, trigeminal V, vibrissa;BrainSpMouseDev|16904	OMIM|602020
tRG	RPL13A	0.266449389	3.23E-07	Ribosomal subunit		
tRG	DFFA	0.379536212	3.26E-07	Chaperone	BrainSpLMD|1676	OMIM|601882
tRG	DKK3	0.778523978	3.29E-07	Ligand	BrainSpLMD|27122;Eurexp|euxassay_018106|aorta, axial skeleton, femur, humerus, mesenchyme, neural retina, rib, ventricular layer;BrainSpMouseDev|30269	OMIM|605416
tRG	NAA50	0.51107114	3.38E-07	Enzyme: Acyltransferase	BrainSpLMD|80218	OMIM|610834
tRG	NPM1P27	0.253007323	3.41E-07			
tRG	HNRNPH2	0.478923572	3.41E-07	Ribonucleoprotein	BrainSpLMD|3188	SFARI||Autism, 4 - Minimal evidence;OMIM|300610;HPO|3188|Aggressive behavior, Anxiety, Ataxia, Autistic behavior, Constipation, Developmental regression, Epicanthus, Failure to thrive, Feeding difficulties, Gait disturbance, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, High palate, Hyperlordosis, Hypertelorism, Hypertonia, Hypotelorism, Intellectual disability, Joint laxity, Micrognathia, Obsessive-compulsive behavior, Pes planus, Scoliosis, Seizures, Short palpebral fissure, Short philtrum, Short stature, Thick vermilion border, Underdeveloped nasal alae, Wide mouth, X-linked dominant inheritance
tRG	UBE2V1P2	1.034230008	3.54E-07			
tRG	PIK3CB	0.543188351	3.61E-07	Lipid Kinase	BrainSpLMD|5291;BrainSpMouseDev|50610	OMIM|602925;COSMIC||SCC, NSCLC
tRG	SLC2A1	0.729102016	3.61E-07	Membrane transport protein	BrainSpLMD|6513;Eurexp|euxassay_019681|Meckel's cartilage, axial skeleton, basisphenoid bone, brain, gut, incisor, labyrinth, lobe, lumen, meninges, mesenchyme, molar, neural retina, nucleus pulposus, olfactory, otic capsule, rectum, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, valve, ventricular layer, vestibular component, vibrissa;BrainSpMouseDev|20287	OMIM|138140;HPO|6513|Abnormality of erythrocytes, Absence seizures, Absent speech, Ataxia, Autosomal dominant inheritance, Cataract, Choreoathetosis, Confusion, Cyanosis, Delayed myelination, Delayed speech and language development, Dysarthria, Dystonia, EEG abnormality, Encephalopathy, Extrapyramidal dyskinesia, Generalized hyperreflexia, Global developmental delay, Headache, Hemiparesis, Hemolytic anemia, Hepatomegaly, Hyperactive deep tendon reflexes, Hyperreflexia, Hypoglycorrhachia, Inability to walk, Infantile onset, Intellectual disability, Jaundice, Lethargy, Microcephaly, Muscle stiffness, Nystagmus, Paralysis, Paresthesia, Paroxysmal dyskinesia, Paroxysmal involuntary eye movements, Progressive microcephaly, Seizures, Short stature, Spasticity, Splenomegaly, Status epilepticus, Torsion dystonia
tRG	RPLP0P6	0.42567482	3.64E-07			
tRG	IMPDH2	0.40979502	3.64E-07	Enzyme: Dehydrogenase	BrainSpLMD|3615	OMIM|146691
tRG	TCEAL8	0.651767257	3.92E-07	Unclassified	BrainSpLMD|90843	
tRG	POLR1C	0.816226956	4.07E-07	RNA polymerase	BrainSpLMD|9533	OMIM|610060;HPO|9533|Abnormality of bone mineral density, Abnormality of the outer ear, Absent eyelashes, Ataxia, Autosomal recessive inheritance, CNS hypomyelination, Cleft eyelid, Cleft palate, Conductive hearing impairment, Downslanted palpebral fissures, Frontal bossing, Global developmental delay, Hypergonadotropic hypogonadism, Hypodontia, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Intellectual disability, Iris coloboma, Leukodystrophy, Low anterior hairline, Lower eyelid coloboma, Malar flattening, Mandibulofacial dysostosis, Micrognathia, Microtia, Midface retrusion, Narrow internal auditory canal, Open bite, Reduced number of teeth, Retrognathia, Short face, Skeletal dysplasia, Strabismus, Tremor, Visual impairment, Wide nasal bridge
tRG	PEX19	0.508107162	4.09E-07	Integral membrane protein	BrainSpLMD|5824	OMIM|600279;HPO|5824|Abnormal cortical bone morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the hairline, Abnormality of the liver, Abnormality of the male genitalia, Abnormality of the palate, Anteverted nares, Ataxia, Atrial septal defect, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, CNS demyelination, Cataract, Central hypotonia, Cerebral atrophy, Cholelithiasis, Chorioretinal abnormality, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cranial asymmetry, Cryptorchidism, Death in infancy, Decreased body weight, Decreased fetal movement, Delayed closure of the anterior fontanelle, Depressed nasal bridge, Developmental regression, Dolichocephaly, Double outlet right ventricle, EEG abnormality, Elevated hepatic transaminases, Elevated levels of phytanic acid, Elevated long chain fatty acids, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Global developmental delay, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydrocephalus, Hydronephrosis, Hyperbilirubinemia, Hyperreflexia, Hypospadias, Jaundice, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Muscular hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Patent ductus arteriosus, Periorbital fullness, Polymicrogyria, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Prominent nose, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Renal tubular dysfunction, Respiratory insufficiency, Rod-cone dystrophy, Scaphocephaly, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Skeletal dysplasia, Spasticity, Strabismus, Triangular face, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
tRG	CNTNAP3	0.737489849	4.09E-07	Adhesion molecule	Eurexp|euxassay_013224|mantle layer	SFARI||Autism, No category;OMIM|610517
tRG	CTDSP2	0.573827782	4.17E-07	Enzyme: Phosphatase	BrainSpLMD|10106;Eurexp|euxassay_004324|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail	OMIM|608711
tRG	SLIT2	0.382039676	4.20E-07	Ligand	BrainSpLMD|9353;BrainSpMouseDev|20325	OMIM|603746
tRG	VPS13A	0.787216233	4.33E-07	Transport/cargo protein	BrainSpLMD|23230;Eurexp|euxassay_008591|thymus primordium	OMIM|605978;HPO|23230|Abnormal bleeding, Abnormal urinary color, Abnormality of vision, Acanthocytosis, Aggressive behavior, Anxiety, Areflexia, Ataxia, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Caudate atrophy, Cerebral cortical atrophy, Chorea, Death in early adulthood, Developmental regression, Difficulty in tongue movements, Disinhibition, Distal upper limb muscle weakness, Drooling, Dysarthria, Dysgraphia, Dysphagia, Dystonia, EMG abnormality, Elevated serum creatine phosphokinase, Fatigue, Gait disturbance, Hyporeflexia, Limb muscle weakness, Memory impairment, Mood changes, Muscle fiber atrophy, Muscular hypotonia, Myopathy, Orofacial dyskinesia, Pallor, Parkinsonism, Peripheral neuropathy, Personality changes, Pes cavus, Progressive, Progressive choreoathetosis, Progressive distal muscular atrophy, Protruding tongue, Psychosis, Seizures, Self-mutilation of tongue and lips due to involuntary movements, Sensory neuropathy, Skeletal muscle atrophy, Tics, Tremor, Ventriculomegaly
tRG	GLUL	0.302772021	4.37E-07	Enzyme: Aminotransferase	BrainSpLMD|2752;BrainSpMouseDev|14421	OMIM|138290;HPO|2752|Apnea, Autosomal recessive inheritance, Bradycardia, Brain atrophy, CNS hypomyelination, Depressed nasal bridge, Encephalopathy, Generalized hypotonia, Hyperammonemia, Hyperreflexia, Hypoplasia of the corpus callosum, Low-set ears, Periventricular cysts, Respiratory insufficiency, Seizures, Severe global developmental delay, Skin rash, Subependymal cysts, Ventriculomegaly, Wide nasal bridge
tRG	SACM1L	0.39345672	4.62E-07	Lipid phosphatase	BrainSpLMD|22908	OMIM|606569
tRG	FEZ2	0.381423516	4.73E-07	Unclassified	BrainSpLMD|9637	OMIM|604826
tRG	KLF10	0.757085312	4.82E-07	Transcription factor	BrainSpLMD|7071	OMIM|601878
tRG	ST7.OT4	1.098295987	4.83E-07			
tRG	SERPINB6	1.247157562	4.95E-07	Protease inhibitor	BrainSpLMD|5269;Eurexp|euxassay_012500|adrenal gland, aorta, diaphragm, dorsal root ganglion, epithelium, eyelid, facial VII, glossopharyngeal IX, hindgut, incisor, left lung, mantle layer, mesenchyme, midgut, naris, naso-lacrimal duct, ovary, rectum, right lung, submandibular gland primordium, testis, thymus primordium, trachea, trigeminal V, umbilical artery, vagus X, ventral grey horn	OMIM|173321;HPO|5269|Autosomal recessive inheritance, Progressive hearing impairment
tRG	ELP4	0.342975178	5.00E-07	Enzyme: Acyltransferase	BrainSpLMD|26610	SFARI||Autism, 3 - Suggestive evidence;OMIM|606985;HPO|26610|Aniridia, Autosomal dominant inheritance, Cataract, Glaucoma, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Nystagmus, Opacification of the corneal stroma, Optic nerve hypoplasia
tRG	TOR1AIP1	0.771295695	5.02E-07	Unclassified	BrainSpLMD|26092	OMIM|614512;HPO|26092|Ankle contracture, Autosomal recessive inheritance, Increased endomysial connective tissue, Slow progression, Spinal rigidity
tRG	TMED10	0.573168077	5.11E-07	Integral membrane protein	BrainSpLMD|10972	OMIM|605406
tRG	RP13.383K5.4	0.262138702	5.26E-07			
tRG	C4orf3	0.478289864	5.39E-07	Integral membrane protein	BrainSpLMD|401152	
tRG	HIAT1	0.255139431	5.42E-07			
tRG	NUP214	0.28162654	5.79E-07	Transport/cargo protein	BrainSpLMD|8021	OMIM|114350;COSMIC||AML, T-ALL;HPO|8021|Acute lymphoblastic leukemia, Polygenic inheritance
tRG	C19orf53	0.725383655	5.87E-07	Unclassified	BrainSpLMD|28974	
tRG	TMEM65	0.958239599	6.10E-07	Integral membrane protein	BrainSpLMD|157378	OMIM|616609
tRG	PEG3	0.360112904	6.54E-07	Transcription factor	BrainSpLMD|5178	OMIM|601483
tRG	RPN2	0.443240793	6.57E-07	Enzyme: Glycosyltransferase	BrainSpLMD|6185;Eurexp|euxassay_018263|embryo	OMIM|180490
tRG	ZNF621	1.062880768	6.94E-07	Transcription regulatory protein	BrainSpLMD|285268	
tRG	NEBL	1.38056639	6.95E-07	Cytoskeletal associated protein	BrainSpLMD|10529	OMIM|605491;HPO|10529|Dilated cardiomyopathy
tRG	MCM3	0.512593119	6.97E-07	DNA binding protein	BrainSpLMD|4172;Eurexp|euxassay_001694|marginal layer, ventricular layer	OMIM|602693
tRG	FAM131A	0.934728311	7.04E-07	Unclassified	BrainSpLMD|131408	
tRG	DOCK1	0.850959616	7.26E-07	Guanine nucleotide exchange factor	BrainSpLMD|1793	SFARI||Autism, 4 - Minimal evidence;OMIM|601403
tRG	TCTN3	0.445402956	7.28E-07	Integral membrane protein	BrainSpLMD|26123;Eurexp|euxassay_011590|choroid invagination, choroid plexus, olfactory, roof plate	OMIM|613847;HPO|26123|Abnormality of eye movement, Abnormality of oral frenula, Abnormality of the gingiva, Abnormality of the tongue, Absent testis, Accessory oral frenulum, Aplasia/Hypoplasia of the tibia, Autosomal recessive inheritance, Bifid uvula, Brachydactyly, Camptodactyly, Camptodactyly of finger, Cerebral atrophy, Cerebral cortical hemiatrophy, Choanal atresia, Cleft palate, Clinodactyly, Conductive hearing impairment, Decreased testicular size, Depressed nasal ridge, Epicanthus, Failure to thrive, Feeding difficulties, Finger syndactyly, Foot polydactyly, Genu varum, Global developmental delay, Hamartoma, Hamartoma of tongue, Hand polydactyly, High palate, High, narrow palate, Horseshoe kidney, Hypertelorism, Intellectual disability, Intrauterine growth retardation, Joint dislocation, Joint laxity, Kyphoscoliosis, Laryngomalacia, Lobulated tongue, Low-set ears, Median cleft lip, Microcephaly, Micrognathia, Micromelia, Microtia, third degree, Molar tooth sign on MRI, Monorchism, Oligohydramnios, Oral synechia, Pectus excavatum, Phenotypic variability, Polydactyly, Porencephalic cyst, Postaxial hand polydactyly, Posteriorly rotated ears, Preaxial hand polydactyly, Proptosis, Recurrent respiratory infections, Retrognathia, Severe short stature, Short finger, Short nose, Short stature, Short tibia, Specific learning disability, Split hand, Subcortical cerebral atrophy, Submucous cleft hard palate, Toe syndactyly, Tongue nodules, Ventricular septal defect, Wide nose
tRG	DNAL1	0.522286104	7.31E-07	Unclassified	BrainSpLMD|83544	OMIM|610062;HPO|83544|Abnormal ciliary motility, Absent outer dynein arms, Autosomal recessive inheritance, Bronchiectasis, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Congenital onset, Recurrent respiratory infections, Situs inversus totalis
tRG	CYP51A1P1	0.412899824	7.52E-07			
tRG	HDLBP	0.507481972	7.52E-07	Transport/cargo protein;RNA binding protein	BrainSpLMD|3069	OMIM|142695
tRG	INTS6	0.264783141	7.99E-07	RNA binding protein	BrainSpLMD|26512	SFARI||Autism, 2 - Strong candidate;OMIM|604331
tRG	APC	0.562202157	8.15E-07	Adhesion molecule	BrainSpLMD|324;Eurexp|euxassay_007660|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|11576	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611731;COSMIC||colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS, colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS;HPO|324|Abdominal pain, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Adenomatous colonic polyposis, Adrenocortical carcinoma, Astrocytoma, Autosomal dominant inheritance, Colon cancer, Desmoid tumors, Epidermoid cyst, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hyperpigmentation of the skin, Intestinal polyposis, Keloids, Malabsorption, Micronodular cirrhosis, Multiple gastric polyps, Multiple lipomas, Myalgia, Neoplasm of the stomach, Odontoma, Renal cell carcinoma, Small intestine carcinoid, Somatic mutation, Stomach cancer, Subacute progressive viral hepatitis, Subcutaneous nodule, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Variable expressivity
tRG	CLDND1	0.407767139	8.41E-07	Unclassified	BrainSpLMD|56650;Eurexp|euxassay_006238|embryo	
tRG	C15orf41	0.819710763	8.47E-07	Unclassified	BrainSpLMD|84529;Eurexp|euxassay_005181|adenohypophysis, brain, metanephros, neural retina, retina, spinal cord, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|615626;HPO|84529|Anemia of inadequate production, Anisocytosis, Autosomal recessive inheritance, Erythroid hyperplasia, Hepatomegaly, Jaundice, Pallor, Poikilocytosis, Reticulocytosis, Splenomegaly
tRG	RAB9A	0.870584107	8.58E-07	Unclassified	BrainSpLMD|9367;Eurexp|euxassay_006722|embryo	OMIM|300284
tRG	C9orf41	0.558293773	8.65E-07			
tRG	CEP83	0.644231166	8.78E-07	Unclassified	BrainSpLMD|51134;Eurexp|euxassay_005968|brain, cervical, cervico-thoracic, cochlea, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, lip, olfactory, oral epithelium, oral region, palatal shelf, spinal cord, submandibular gland primordium, thoracic, thymus primordium, tongue, trigeminal V, utricle, vagus X, vestibulocochlear VIII	OMIM|615847;HPO|51134|Autosomal recessive inheritance, Nephronophthisis, Stage 5 chronic kidney disease, Thickening of the glomerular basement membrane, Tubular atrophy, Tubulointerstitial nephritis
tRG	CCNY	0.623659307	9.02E-07	Unclassified	BrainSpLMD|219771	OMIM|612786
tRG	MDM1	0.990963761	9.18E-07	Unclassified	BrainSpLMD|56890	OMIM|613813
tRG	COMT	0.661451566	9.58E-07	Enzyme: Acyltransferase	BrainSpLMD|1312;Eurexp|euxassay_018193|basal columns, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, mantle layer, thymus primordium, trigeminal V, vagus X;BrainSpMouseDev|12629	OMIM|116790;HPO|1312|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
tRG	LYRM2	0.518956198	9.76E-07	Enzyme: Oxidoreductase	BrainSpLMD|57226	
tRG	RP11.436K8.1	0.37112712	9.79E-07			
tRG	PGM2	0.871847913	9.83E-07	Enzyme: Phosphotransferase	BrainSpLMD|55276	OMIM|172000
tRG	ABHD3	1.050650608	9.99E-07	Unclassified	BrainSpLMD|171586;Eurexp|euxassay_005011|choroid plexus, lateral recess, mantle layer, olfactory, urethra	OMIM|612197
tRG	HSDL2	0.634048324	1.01E-06	Unclassified	BrainSpLMD|84263	
tRG	ATRAID	0.534948774	1.08E-06	Unclassified	BrainSpLMD|51374	
tRG	CCDC149	0.989422232	1.10E-06	Unclassified	BrainSpLMD|91050	
tRG	PNRC2	0.49677748	1.10E-06	Ligand	Eurexp|euxassay_002876|thymus primordium, ventricular layer	OMIM|611882
tRG	GLUD1	0.767246866	1.12E-06	Enzyme: Dehydrogenase	BrainSpLMD|2746	OMIM|138130;HPO|2746|Asymptomatic hyperammonemia, Autosomal dominant inheritance, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability
tRG	WDR41	0.803605918	1.13E-06	Unclassified	BrainSpLMD|55255	OMIM|617502
tRG	TRA2B	0.26874382	1.18E-06	RNA binding protein	BrainSpLMD|6434	OMIM|602719
tRG	GRB10	0.390546496	1.24E-06	Adapter molecule	BrainSpLMD|2887;Eurexp|euxassay_011372|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|601523
tRG	CYP51A1P2	0.348470524	1.25E-06			
tRG	CALR	0.317237372	1.28E-06	Chaperone	BrainSpLMD|811	OMIM|109091;COSMIC||MPN, MDS;HPO|811|Abnormal platelet morphology, Abnormality of the skeletal system, Acrocyanosis, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Chest pain, Hypertension, Impaired platelet aggregation, Increased megakaryocyte count, Myelofibrosis, Myeloproliferative disorder, Myocardial infarction, Paresthesia, Prolonged bleeding time, Somatic mutation, Splenomegaly, Thrombocytosis, Transient ischemic attack, Venous thrombosis
tRG	PITPNB	0.295834133	1.29E-06	Transport/cargo protein	BrainSpLMD|23760;Eurexp|euxassay_012385|thymus primordium	OMIM|606876
tRG	GMNN	0.373046506	1.30E-06	Cell cycle control protein	BrainSpLMD|51053;Eurexp|euxassay_013652|cortex, incisor, lobe, lung, molar, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|602842;HPO|51053|Abnormality of epiphysis morphology, Abnormality of the ribs, Anotia, Aplastic clavicles, Atresia of the external auditory canal, Autosomal dominant inheritance, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Conductive hearing impairment, Craniosynostosis, Cryptorchidism, Delayed puberty, Delayed skeletal maturation, Depressed nasal ridge, Failure to thrive, Feeding difficulties, Growth hormone deficiency, High, narrow palate, Hip dysplasia, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Microtia, third degree, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Recurrent respiratory infections, Respiratory distress, Respiratory failure, Retrognathia, Severe short stature, Short middle phalanx of finger, Slender long bone, Stenosis of the external auditory canal, Umbilical hernia
tRG	SC5D	0.588589359	1.31E-06	Enzyme: Oxidase	BrainSpLMD|6309;Eurexp|euxassay_003227|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X	OMIM|602286;HPO|6309|Abnormal platelet morphology, Abnormality of the thoracic spine, Anisopoikilocytosis, Anteverted nares, Arnold-Chiari malformation, Autosomal recessive inheritance, Biparietal narrowing, Bulbous nose, Cataract, Cerebellar cortical atrophy, Cerebral calcification, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus, Failure to thrive, Full cheeks, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hearing impairment, Hepatic failure, Hepatomegaly, High palate, Horseshoe kidney, Hypoplasia of penis, Increased mean platelet volume, Intrahepatic cholestasis, Intrauterine growth retardation, Long philtrum, Lumbosacral meningocele, Meningocele, Microcephaly, Microcornea, Micrognathia, Muscular hypotonia, Myoclonus, Narrow forehead, Opacification of the corneal stroma, Postaxial foot polydactyly, Postaxial hand polydactyly, Prominent metopic ridge, Ptosis, Seizures, Short nose, Sloping forehead, Specific learning disability, Talipes, Thrombocytopenia, Toe syndactyly
tRG	PLXNC1	0.808203866	1.33E-06	Integral membrane protein	BrainSpLMD|10154;BrainSpMouseDev|34001	OMIM|604259
tRG	HNRNPF	0.389512543	1.33E-06	Ribonucleoprotein	BrainSpLMD|3185	OMIM|601037
tRG	SZRD1	0.870907882	1.37E-06	Unclassified	BrainSpLMD|26099	
tRG	IRAK1BP1	0.696611176	1.39E-06	Unclassified		OMIM|615375
tRG	LSAMP	0.444537378	1.40E-06	Adhesion molecule	BrainSpLMD|4045	OMIM|603241
tRG	LTA4H	0.694274556	1.41E-06	Enzyme: Hydrolase	BrainSpLMD|4048	OMIM|151570
tRG	RNU6.37P	0.323903231	1.48E-06			
tRG	AP3M1	0.700686943	1.53E-06	Transport/cargo protein	BrainSpLMD|26985	OMIM|610366
tRG	SNHG16	0.355540859	1.57E-06			
tRG	RPF2	0.407216358	1.65E-06	Unclassified	BrainSpLMD|84154	
tRG	ECH1	0.621383146	1.72E-06	Enzyme: Hydratase	BrainSpLMD|1891	OMIM|600696
tRG	TOX	0.477315158	1.75E-06	DNA binding protein	BrainSpLMD|9760;Eurexp|euxassay_006612|axial skeleton, cervical, cervico-thoracic, clavicle, cricoid, diencephalon, exoccipital bone, femur, hindbrain, inner ear, lip, lung, mandible, mantle layer, mesenchyme, metanephros, metatarsus, midbrain, nasal septum, neural retina, orbito-sphenoid, pelvic girdle, penis, phalanx, rib, scapula, stomach, telencephalon, thoracic, thymus primordium, thyroid, turbinate, vault of skull, vibrissa, vomeronasal organ;BrainSpMouseDev|89963	OMIM|606863
tRG	RAB8B	0.773190762	1.76E-06	GTPase	BrainSpLMD|51762	OMIM|613532
tRG	POLR2L	0.523443099	1.78E-06	RNA polymerase	BrainSpLMD|5441;Eurexp|euxassay_019574|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, liver, lung, midgut, nucleus pulposus, oesophagus, pancreas, stomach, submandibular gland primordium, testis, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|601189
tRG	CHST10	0.583200049	1.78E-06	Enzyme: Sulphotransferase	BrainSpLMD|9486	OMIM|606376
tRG	SLMO2	0.643827534	1.79E-06			
tRG	C5orf51	0.267051532	1.84E-06	Unclassified	BrainSpLMD|285636;Eurexp|euxassay_002027|brain, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vagus X	
tRG	VEPH1	1.044638656	1.86E-06	Unclassified	BrainSpLMD|79674	OMIM|609594
tRG	IMPA1	0.562012236	1.87E-06	Enzyme: Phosphatase	BrainSpLMD|3612	OMIM|602064;HPO|3612|Aggressive behavior, Autosomal recessive inheritance, Intellectual disability, Paranoia
tRG	DANCR	0.634067553	1.89E-06			OMIM|614625
tRG	PRPF4B	0.299488983	1.99E-06	Serine/threonine kinase	BrainSpLMD|8899;Eurexp|euxassay_005644|embryo	OMIM|602338
tRG	JADE1	0.311201966	2.11E-06	Unclassified	BrainSpLMD|79960	OMIM|610514
tRG	CACHD1	0.788755385	2.16E-06	Voltage gated channel	BrainSpLMD|57685;Eurexp|euxassay_006310|incisor, lung, mantle layer, molar, naris, penis, ventricular layer	
tRG	SMU1	0.27909242	2.17E-06	Unclassified	BrainSpLMD|55234	
tRG	TAF9	0.592559123	2.17E-06	Transcription regulatory protein	BrainSpLMD|6880;Eurexp|euxassay_002090|thymus primordium;BrainSpMouseDev|72303	OMIM|600822
tRG	SPAG16	0.931167699	2.21E-06	Unclassified	BrainSpLMD|79582	OMIM|612173
tRG	FXYD6	0.389034602	2.25E-06	Ion channel	BrainSpLMD|53826;Eurexp|euxassay_005187|brain, cervical, cervico-thoracic, cortex, facial VII, spinal cord, thoracic, trigeminal V, vagus X, valve, vestibulocochlear VIII;BrainSpMouseDev|37655	OMIM|606683
tRG	SUCO	0.327968902	2.37E-06	Integral membrane protein	BrainSpLMD|51430	
tRG	LYRM5	0.891337374	2.39E-06			
tRG	ST13P6	0.352707926	2.41E-06			
tRG	PDIA4	0.780134829	2.42E-06	Chaperone	BrainSpLMD|9601;Eurexp|euxassay_000803|basal plate, telencephalon, ventricular layer	
tRG	KCTD6	0.41068811	2.44E-06	Ion channel	BrainSpLMD|200845;Eurexp|euxassay_003600|dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vibrissa	
tRG	CDCA7	0.2781642	2.53E-06	Cell cycle control protein	BrainSpLMD|83879	OMIM|609937;HPO|83879|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Conductive hearing impairment, Cryptorchidism, Decreased antibody level in blood, Depressed nasal bridge, Flat face, Global developmental delay, Hypertelorism, Hypoplastic ischia, Hypospadias, Intellectual disability, Intrauterine growth retardation, Low-set ears, Lymphopenia, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Polydactyly, Recurrent respiratory infections, Short nose, Short stature, Strabismus
tRG	GNB2L1	0.283497943	2.63E-06			
tRG	MCM4	0.576433321	2.90E-06	DNA binding protein	BrainSpLMD|4173	SFARI||Autism, 4 - Minimal evidence;OMIM|602638;HPO|4173|Adrenal insufficiency, Autosomal recessive inheritance, Global developmental delay, Hepatomegaly, Intrauterine growth retardation, Lymphadenopathy, Lymphoproliferative disorder, Microcephaly, Postnatal growth retardation, Recurrent respiratory infections, Recurrent viral infections, Splenomegaly
tRG	ATF6	0.997054396	2.94E-06	Transcription factor	BrainSpLMD|22926;BrainSpMouseDev|86447	OMIM|605537;HPO|22926|Abnormal electroretinogram, Autosomal recessive inheritance, Dyschromatopsia, Exotropia, Hypermetropia, Pendular nystagmus, Photophobia, Visual impairment
tRG	FSTL5	0.744058268	2.97E-06	Extracellular matrix protein	BrainSpLMD|56884	
tRG	TNFAIP1	0.508497079	3.03E-06	Unclassified	BrainSpLMD|7126;Eurexp|euxassay_011960|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones, valve, vault of skull	OMIM|191161
tRG	TIMM10B	1.297913038	3.03E-06	Membrane transport protein	BrainSpLMD|26515	OMIM|607388
tRG	E2F5	0.413450816	3.07E-06	Transcription factor	BrainSpLMD|1875;BrainSpMouseDev|13338	OMIM|600967
tRG	LRRC58	0.408292108	3.15E-06	Unclassified		
tRG	CTD.2031P19.4	0.525672763	3.21E-06			
tRG	MGST3	0.537222779	3.25E-06	Enzyme: Glutathione transferase	BrainSpLMD|4259;Eurexp|euxassay_015092|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, neural retina, olfactory, spinal cord, stomach, stroma, thoracic, trigeminal V, urethra, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42290	OMIM|604564
tRG	WBP5	0.275187316	3.28E-06			
tRG	MKNK2	0.402824313	3.54E-06	Serine/threonine kinase	BrainSpLMD|2872	OMIM|605069
tRG	SS18	0.303642332	3.55E-06	Transcription regulatory protein	BrainSpLMD|6760	OMIM|600192;COSMIC||synovial sarcoma
tRG	RSL1D1	0.36604624	3.86E-06	Unclassified	BrainSpLMD|26156	OMIM|615874
tRG	CXXC5	0.68486095	3.87E-06	DNA binding protein	BrainSpLMD|51523	OMIM|612752
tRG	TRAPPC2P1	0.375594755	3.95E-06			
tRG	C3orf38	0.97951696	4.11E-06	Unclassified	BrainSpLMD|285237;Eurexp|euxassay_008127|embryo	
tRG	ZNF426	0.428909816	4.32E-06	DNA binding protein	BrainSpLMD|79088	
tRG	ABCE1	0.606263316	4.34E-06	Transport/cargo protein	BrainSpLMD|6059;Eurexp|euxassay_006203|frontal bone primordium, mantle layer, orbito-sphenoid, thymus primordium, ventricular layer, vertebral axis muscle system	OMIM|601213
tRG	SLC1A2	0.399720081	4.38E-06	Membrane transport protein	BrainSpLMD|6506;Eurexp|euxassay_009471|brain, spinal cord;BrainSpMouseDev|20273	SFARI||Autism, No category;OMIM|600300;HPO|6506|Autosomal dominant inheritance, Cerebral atrophy, Epileptic encephalopathy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Intellectual disability, profound, Kyphoscoliosis, Neonatal onset, Seizures
tRG	MEA1	0.330085562	4.43E-06	Unclassified	BrainSpLMD|4201	OMIM|143170
tRG	CDK2	1.044167989	4.44E-06	Cell cycle control protein	BrainSpLMD|1017	OMIM|116953
tRG	CCT3	0.25870366	4.47E-06	Chaperone	BrainSpLMD|7203	OMIM|600114
tRG	NEO1	0.360147163	4.50E-06	Cell surface receptor	BrainSpLMD|4756;Eurexp|euxassay_018461|axial skeleton, diaphragm, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lung, mandible, mantle layer, marginal layer, maxilla, nasal septum, pericardial cavity, turbinate bones, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|17774	SFARI||Autism, 4 - Minimal evidence;OMIM|601907
tRG	CCNG1	0.690219637	4.57E-06	Cell cycle control protein	BrainSpLMD|900;Eurexp|euxassay_011875|trigeminal V;BrainSpMouseDev|12235	OMIM|601578
tRG	DNAJA1	0.372095287	4.58E-06	Heat shock protein	BrainSpLMD|3301	OMIM|602837
tRG	PDZD11	0.316451147	4.62E-06	Unclassified	BrainSpLMD|51248	OMIM|300632
tRG	ABCD3	0.68516639	4.81E-06	Integral membrane protein	BrainSpLMD|5825	OMIM|170995;HPO|5825|Autosomal recessive inheritance, Elevated hepatic transaminases, Hepatic failure, Hepatic fibrosis, Hepatomegaly, Infantile onset, Iron deficiency anemia, Jaundice, Progressive, Splenomegaly
tRG	CNTLN	0.791633005	4.85E-06	Unclassified	BrainSpLMD|54875	OMIM|611870
tRG	ATXN2	0.372027235	4.98E-06	RNA binding protein	BrainSpLMD|6311;Eurexp|euxassay_013424|dorsal root ganglion, facial VII, glossopharyngeal IX, lens, neural retina, submandibular gland primordium, trigeminal V, ventral grey horn	OMIM|601517;HPO|6311|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Bradykinesia, Dementia, Depressivity, Dilated fourth ventricle, Distal amyotrophy, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Dysphagia, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Gaze-evoked nystagmus, Generalized hypotonia, Generalized muscle weakness, Genetic anticipation, Hyporeflexia, Impaired horizontal smooth pursuit, Impaired vibratory sensation, Limb ataxia, Muscle cramps, Myoclonus, Neurodegeneration, Oculomotor apraxia, Olivopontocerebellar atrophy, Ophthalmoplegia, Pain, Paralysis, Postural instability, Postural tremor, Progressive cerebellar ataxia, Respiratory failure, Rigidity, Rod-cone dystrophy, Skeletal muscle atrophy, Slow saccadic eye movements, Spasticity, Spinocerebellar tract degeneration, Urinary bladder sphincter dysfunction, Xerostomia
tRG	MASP1	0.675325603	5.06E-06	Serine protease	BrainSpLMD|5648	OMIM|600521;HPO|5648|Abnormality of eye movement, Abnormality of the anterior chamber, Atrial septal defect, Autosomal recessive inheritance, Bilateral cryptorchidism, Blepharophimosis, Broad foot, Caudal appendage, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Conductive hearing impairment, Conjunctival telangiectasia, Coronal craniosynostosis, Craniosynostosis, Dental crowding, Diastasis recti, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus inversus, Glaucoma, Growth delay, Hearing impairment, Highly arched eyebrow, Hydronephrosis, Hyperlordosis, Hypertelorism, Intellectual disability, Intellectual disability, mild, Lambdoidal craniosynostosis, Large fleshy ears, Limited pronation/supination of forearm, Microcephaly, Omphalocele, Oral cleft, Patent ductus arteriosus, Postnatal growth retardation, Ptosis, Radioulnar synostosis, Sacral dimple, Scoliosis, Short 5th finger, Short foot, Single interphalangeal crease of fifth finger, Skull asymmetry, Spina bifida occulta, Supernumerary nipple, Telecanthus, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide anterior fontanel
tRG	MCM5	1.148361457	5.06E-06	DNA binding protein	BrainSpLMD|4174	OMIM|602696
tRG	METTL7A	0.319431119	5.06E-06	Enzyme: Methyltransferase	BrainSpLMD|25840	
tRG	ETFA	0.996593137	5.29E-06	Membrane transport protein	BrainSpLMD|2108;Eurexp|euxassay_002051|thymus primordium, ventricular layer	OMIM|608053;HPO|2108|Abnormal facial shape, Abnormality of the genital system, Abnormality of the pinna, Autosomal recessive inheritance, Congenital cataract, Defective dehydrogenation of isovaleryl CoA and butyryl CoA, Depressed nasal bridge, Electron transfer flavoprotein-ubiquinone oxidoreductase defect, Ethylmalonic aciduria, Generalized aminoaciduria, Gliosis, Glutaric acidemia, Glutaric aciduria, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, High forehead, Hypoglycemia, Hypoglycemic coma, Jaundice, Macrocephaly, Muscle weakness, Muscular hypotonia, Nausea, Neonatal death, Pachygyria, Polycystic kidney dysplasia, Proximal tubulopathy, Pulmonary hypoplasia, Renal cortical cysts, Respiratory distress, Telecanthus, Vomiting, Wide anterior fontanel
tRG	NECAB1	0.554952989	5.33E-06	Calcium binding protein	BrainSpLMD|64168;Eurexp|euxassay_005971|embryo	
tRG	PPA1	0.430347968	5.38E-06	Enzyme: Phosphohydrolase	BrainSpLMD|5464;Eurexp|euxassay_004470|bladder, cranium, forelimb, hindlimb, incisor, lung, mandible, maxilla, mesenchyme, metanephros, midgut, nasal septum, olfactory, orbito-sphenoid, palatal shelf, pancreas, respiratory, submandibular gland primordium, tail, turbinate bones, vibrissa	OMIM|179030
tRG	CRY1	1.032968188	5.52E-06	Translation regulatory protein	BrainSpLMD|1407	OMIM|601933
tRG	RPS6	0.252023197	5.56E-06	Ribosomal subunit	BrainSpLMD|6194	OMIM|180460
tRG	MIER3	1.048121819	5.65E-06	DNA binding protein	BrainSpLMD|166968	
tRG	ARL8B	0.672034366	5.72E-06	GTPase	BrainSpLMD|55207	OMIM|616596
tRG	NUP98	0.469403332	5.93E-06	Transport/cargo protein	BrainSpLMD|4928	OMIM|601021;COSMIC||AML
tRG	SPRED1	1.155924331	6.03E-06	Unclassified	BrainSpLMD|161742	OMIM|609291;HPO|161742|Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Axillary freckling, Cafe-au-lait spot, Downslanted palpebral fissures, Epicanthus, Generalized hypotonia, High, narrow palate, Hypertelorism, Low posterior hairline, Low-set, posteriorly rotated ears, Macrocephaly, Micrognathia, Multiple lipomas, Neurofibromas, Ptosis, Short neck, Specific learning disability, Triangular face
tRG	FAM60A	0.533564382	6.11E-06			
tRG	ZBTB21	0.253216128	6.17E-06	Transcription regulatory protein	BrainSpLMD|49854	OMIM|616485
tRG	EFTUD2	0.370314508	6.29E-06	Unclassified	BrainSpLMD|9343	OMIM|603892;HPO|9343|Abnormality of the antihelix, Absent tragus, Accessory oral frenulum, Anteverted nares, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Choanal atresia, Cleft palate, Conductive hearing impairment, Deep philtrum, Delayed speech and language development, Downslanted palpebral fissures, Epicanthus, Feeding difficulties, Feeding difficulties in infancy, Global developmental delay, Hypoplasia of the maxilla, Intellectual disability, Large earlobe, Low-set ears, Malar flattening, Mandibulofacial dysostosis, Microcephaly, Micrognathia, Microtia, Midface retrusion, Morphological abnormality of the middle ear, Overfolded helix, Postnatal microcephaly, Preauricular skin tag, Preaxial hand polydactyly, Progressive microcephaly, Respiratory distress, Short nose, Short stature, Slender finger, Telecanthus, Trigonocephaly, Underdeveloped tragus, Upslanted palpebral fissure
tRG	SCOC	0.535766757	6.30E-06	Unclassified	BrainSpLMD|60592;Eurexp|euxassay_002885|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X	
tRG	FAM227A	0.86429141	6.41E-06			
tRG	PSPHP1	0.686313624	6.67E-06	Serine/threonine phosphatase		OMIM|604239
tRG	NOG	0.455533211	6.78E-06	Secreted polypeptide	BrainSpLMD|9241;Eurexp|euxassay_009618|axial skeleton, mandible, mantle layer, nasal septum, otic capsule, phalanx, rib, sternum, thyroid, turbinate bones, ventral grey horn;BrainSpMouseDev|17888	OMIM|602991;HPO|9241|2-3 toe syndactyly, Abnormal vertebral morphology, Abnormality of the ankles, Absent distal interphalangeal creases, Absent distal phalanges, Absent fingernail, Absent phalangeal crease, Anonychia, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the nails, Aplastic/hypoplastic toenail, Autosomal dominant inheritance, Brachydactyly, Broad hallux, Broad thumb, Camptodactyly of finger, Carpal synostosis, Clinodactyly, Conductive hearing impairment, Congenital stapes ankylosis, Cubitus valgus, Cutaneous finger syndactyly, Cutaneous syndactyly of toes, Dislocated radial head, Elbow ankylosis, Elbow dislocation, Enlargement of the costochondral junction, Finger syndactyly, Fusion of midphalangeal joints, Hypermetropia, Hypoplastic nasal septum, Hypoplastic spinal processes, Long nose, Low hanging columella, Lower limb undergrowth, Metacarpophalangeal synostosis, Narrow face, Pectus excavatum, Progressive conductive hearing impairment, Progressive fusion 2nd-5th pip joints, Proximal placement of thumb, Proximal symphalangism, Proximal symphalangism of hands, Proximal/middle symphalangism of 5th finger, Radial deviation of finger, Sensorineural hearing impairment, Short 1st metacarpal, Short 5th metacarpal, Short distal phalanx of finger, Short distal phalanx of toe, Short finger, Short foot, Short hallux, Short humerus, Short lower limbs, Short philtrum, Short stature, Short sternum, Single transverse palmar crease, Spinal canal stenosis, Stapes ankylosis, Strabismus, Symphalangism affecting the phalanges of the hand, Synostosis of carpal bones, Tarsal synostosis, Thick upper lip vermilion, Thin upper lip vermilion, Toe syndactyly, Type B brachydactyly, Underdeveloped nasal alae, Waddling gait
tRG	DHRS7	0.288038764	7.05E-06	Enzyme: Dehydrogenase	BrainSpLMD|51635;Eurexp|euxassay_000191|alveolar sulcus, dorsal mesocardium, left atrium, mantle layer, marginal layer, ventricular layer	OMIM|612833
tRG	PSMC4	0.354516282	7.20E-06	Ubiquitin proteasome system protein	BrainSpLMD|5704;Eurexp|euxassay_003493|dorsal root ganglion, facial VII, glossopharyngeal IX, left, pancreas, right, submandibular gland primordium, trigeminal V, vagus X, vibrissa	OMIM|602707
tRG	SPCS2P4	0.388806824	7.27E-06			
tRG	ZFX	0.442423464	7.28E-06	Transcription factor	BrainSpLMD|7543	OMIM|314980
tRG	GAREML	0.766194855	7.48E-06			
tRG	ACAA2	0.393560057	7.63E-06	Enzyme: Acyltransferase	BrainSpLMD|10449;Eurexp|euxassay_018546|bladder, choroid invagination, choroid plexus, epidermis, epithelium, liver, oral epithelium, roof plate, vibrissa	OMIM|604770
tRG	CASC10	0.629444252	7.73E-06	Unclassified		
tRG	DDX21	0.320291583	7.79E-06	ATPase	BrainSpLMD|9188;Eurexp|euxassay_005701|embryo	OMIM|606357
tRG	BSG	0.358174144	8.23E-06	Cell surface receptor	BrainSpLMD|682	OMIM|109480
tRG	UBL3	0.466805191	8.26E-06	Ubiquitin proteasome system protein	BrainSpLMD|5412	OMIM|604711
tRG	BANF1	0.319824767	8.27E-06	DNA binding protein	BrainSpLMD|8815	OMIM|603811;HPO|8815|Abnormality of the forearm, Abnormality of the ribs, Atherosclerosis, Autosomal recessive inheritance, Convex nasal ridge, Delayed closure of the anterior fontanelle, Dental crowding, Failure to thrive, Flexion contracture, Joint stiffness, Lipoatrophy, Malar flattening, Micrognathia, Midface retrusion, Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Progressive clavicular acroosteolysis, Proptosis, Pulmonary arterial hypertension, Right bundle branch block, Scoliosis, Short stature, Sinus tachycardia, Sparse and thin eyebrow, Sparse eyelashes, Spotty hyperpigmentation, Wide cranial sutures
tRG	HNMT	0.666865544	8.50E-06	Enzyme: Methyltransferase	BrainSpLMD|3176	OMIM|605238;HPO|3176|Autosomal recessive inheritance, Delayed speech and language development, Global developmental delay, Infantile onset, Intellectual disability, Intellectual disability, severe, Microcephaly
tRG	PHYHIPL	0.709013875	8.76E-06	Unclassified;Integral membrane protein	BrainSpLMD|84457;Eurexp|euxassay_002109|brain, dorsal root ganglion, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	
tRG	DHX9	0.325039073	8.86E-06	Transcription factor	BrainSpLMD|1660;Eurexp|euxassay_010959|brain, cochlea, epithelium, facial VII, glossopharyngeal IX, incisor, left lung, marginal layer, metanephros, midgut, molar, olfactory, pancreas, pharyngo-tympanic tube, retina, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, utricle, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|603115
tRG	RDH11	0.324257048	9.07E-06	Enzyme: Dehydrogenase	BrainSpLMD|51109	OMIM|607849;HPO|51109|Autosomal recessive inheritance, Dental malocclusion, Global developmental delay, Malar flattening, Retinal dystrophy, Short stature, Upslanted palpebral fissure, Widely spaced teeth
tRG	POLD3	0.885635233	9.13E-06	DNA polymerase	BrainSpLMD|10714;Eurexp|euxassay_007336|embryo	OMIM|611415
tRG	M6PR	0.626382622	9.23E-06	Integral membrane protein	BrainSpLMD|4074	OMIM|154540
tRG	ZNF521	0.45465591	9.60E-06	Transcription regulatory protein	BrainSpLMD|25925;BrainSpMouseDev|86218	OMIM|610974;COSMIC||ALL
tRG	LAPTM4B	1.114085852	1.03E-05	Unclassified	BrainSpLMD|55353;Eurexp|euxassay_001940|basal plate, choroid plexus, dorsal root ganglion, incisor, lateral recess, mantle layer, submandibular gland primordium, trigeminal V, ventral grey horn, vestibulocochlear VIII;BrainSpMouseDev|76980	OMIM|613296
tRG	LINC00263	0.719247916	1.04E-05			
tRG	STK17A	0.530953603	1.07E-05	Serine/threonine kinase	BrainSpLMD|9263	OMIM|604726
tRG	NEK1	0.32787666	1.10E-05	Serine/threonine kinase	BrainSpLMD|4750;Eurexp|euxassay_014225|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, ventral grey horn	OMIM|604588;HPO|4750|Ambiguous genitalia, Amyotrophic lateral sclerosis, Anxiety, Autosomal recessive inheritance, Cleft palate, Depressivity, Digenic inheritance, Disproportionate shortening of the tibia, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Hamartoma of tongue, Horizontal ribs, Hydrops fetalis, Hypoplasia of the epiglottis, Lateral clavicle hook, Median cleft lip, Muscle cramps, Narrow chest, Neurodegeneration, Pain, Paralysis, Polycystic kidney dysplasia, Polysyndactyly of hallux, Postaxial hand polydactyly, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Pulmonary hypoplasia, Respiratory failure, Short ribs, Skeletal muscle atrophy, Spasticity, Thoracic dysplasia, Xerostomia
tRG	ZHX2	0.51527381	1.12E-05	Transcription factor	BrainSpLMD|22882;BrainSpMouseDev|122629	OMIM|609185
tRG	MPPED2	0.359727508	1.14E-05	Enzyme: Hydrolase	BrainSpLMD|744;Eurexp|euxassay_014223|axial skeleton, head mesenchyme, rib, thyroid, ventricular layer	OMIM|600911
tRG	PROM1	0.638399674	1.16E-05	Integral membrane protein	BrainSpLMD|8842;BrainSpMouseDev|18889	OMIM|604365;HPO|8842|Abnormal electroretinogram, Abnormality of color vision, Abnormality of macular pigmentation, Abnormality of retinal pigmentation, Abnormality of the choroid, Abnormality of the fovea, Abnormality of the retinal vasculature, Abnormality of the testis, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the macula, Atypical scarring of skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cataract, Central scotoma, Conductive hearing impairment, Cone/cone-rod dystrophy, Dyschromatopsia, Glaucoma, Granular macular appearance, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Macular degeneration, Macular dystrophy, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paroxysmal involuntary eye movements, Perifoveal ring of hyperautofluorescence, Peripheral visual field loss, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Retinal thinning, Rod-cone dystrophy, Sensorineural hearing impairment, Undetectable electroretinogram, Wide nasal bridge, Yellow/white lesions of the macula
tRG	TMCO1	0.441088518	1.19E-05	Integral membrane protein	BrainSpLMD|54499;Eurexp|euxassay_010558|clavicle, mandible, maxilla, rib	OMIM|614123;HPO|54499|Bifid ribs, Brachycephaly, Broad philtrum, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Coarse hair, Downslanted palpebral fissures, Epicanthus, Hemivertebrae, Hernia, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Low posterior hairline, Low-set, posteriorly rotated ears, Macrocephaly, Midface retrusion, Narrow chest, Polyhydramnios, Rib fusion, Scoliosis, Short neck, Short nose, Short stature, Sprengel anomaly, Strabismus, Synophrys, Thick eyebrow, Ventriculomegaly, Wide mouth, Wide nose
tRG	FGFR1	0.686838028	1.20E-05	Receptor tyrosine kinase	BrainSpLMD|2260;BrainSpMouseDev|13959	OMIM|136350;COSMIC||MPN, NHL, salivary adenoma, Pfeiffer syndrome, Kallman syndrome;HPO|2260|2-3 toe syndactyly, Abnormal form of the vertebral bodies, Abnormality of body height, Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Abnormality of the clavicle, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Absent septum pellucidum, Agenesis of corpus callosum, Alopecia, Anosmia, Anterior hypopituitarism, Anterior pituitary hypoplasia, Anteverted nares, Anxiety, Aphasia, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Arachnoid cyst, Arnold-Chiari malformation, Atrial septal defect, Autosomal dominant inheritance, Bicoronal synostosis, Bimanual synkinesia, Bone cyst, Bowing of the long bones, Brachycephaly, Brachyturricephaly, Breast hypoplasia, Broad foot, Broad hallux, Broad hallux phalanx, Broad metacarpals, Broad metatarsal, Broad palm, Broad phalanx, Broad thumb, Bronchomalacia, Calcaneonavicular fusion, Capillary hemangiomas, Cartilaginous trachea, Cerebellar hypoplasia, Cerebral calcification, Cerebral cortical atrophy, Choanal atresia, Choanal stenosis, Chordee, Cleft eyelid, Cleft palate, Cleft upper lip, Cloverleaf skull, Corneal opacity, Coronal craniosynostosis, Cortical dysplasia, Craniofacial hyperostosis, Craniosynostosis, Cryptorchidism, Dandy-Walker malformation, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Depressivity, Diabetes insipidus, Downslanted palpebral fissures, Dysphasia, Echolalia, Ectrodactyly, Elbow ankylosis, Encephalocele, Epibulbar dermoid, Epicanthus, Erectile abnormalities, Eunuchoid habitus, Failure to thrive, Failure to thrive in infancy, Female hypogonadism, Finger syndactyly, Frontal bossing, Global developmental delay, Gonadotropin deficiency, Gynecomastia, Hallux varus, Hemiplegia/hemiparesis, Heterogeneous, High forehead, High palate, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hypernatremia, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the frontal bone, Hypoplasia of the iris, Hypoplasia of the maxilla, Hypoplasia of the ovary, Hypoplasia of the uterus, Hypoplastic scapulae, Hypoplastic toenails, Hyposmia, Hypospadias, Hypotelorism, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Incomplete penetrance, Increased female libido, Increased susceptibility to fractures, Inguinal hernia, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Limb undergrowth, Linear hyperpigmentation, Lipodystrophy, Lipoma, Lipomas of the central neryous system, Lobar holoprosencephaly, Long penis, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hemivertebrae, Macrocephaly, Malar flattening, Male hypogonadism, Mandibular prognathia, Meckel diverticulum, Microcephaly, Microdontia, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Multiple lipomas, Multiple unerupted teeth, Muscle stiffness, Mutism, Nasal obstruction, Neonatal hypotonia, Neoplasm of the skeletal system, Nevus flammeus, Non-midline cleft lip, Non-obstructive azoospermia, Nystagmus, Oligodontia, Omphalocele, Osteolysis, Osteopenia, Osteoporosis, Pelvic kidney, Peripheral pulmonary artery stenosis, Platyspondyly, Posteriorly rotated ears, Preauricular skin tag, Primary amenorrhea, Prominent supraorbital ridges, Proptosis, Protruding ear, Pseudoarthrosis, Ptosis, Pulmonary arterial hypertension, Reduced bone mineral density, Reduced number of teeth, Respiratory distress, Respiratory insufficiency, Retinopathy, Rhizomelia, Rigidity, Sclerocornea, Secondary amenorrhea, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Severe short stature, Shallow orbits, Short foot, Short hallux, Short metacarpal, Short metatarsal, Short middle phalanx of toe, Short neck, Short nose, Short palm, Short phalanx of finger, Short stature, Shortening of all middle phalanges of the fingers, Somatic mosaicism, Sparse body hair, Spasticity, Split hand, Sporadic, Strabismus, Subcortical cerebral atrophy, Subcutaneous lipoma, Subcutaneous nodule, Subvalvular aortic stenosis, Syndactyly, Synophrys, Telecanthus, Toe syndactyly, Tricuspid valve prolapse, Trigonocephaly, Unerupted tooth, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide intermamillary distance, Wide nasal bridge, Wide nose, Xanthomatosis
tRG	CALCOCO2	0.785109474	1.24E-05	Unclassified	BrainSpLMD|10241	OMIM|604587
tRG	TMEM67	0.820875457	1.27E-05	Unclassified	BrainSpLMD|91147	OMIM|609884;HPO|91147|Anemia, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Blindness, Breathing dysregulation, Cataract, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cirrhosis, Cleft palate, Coloboma, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Elevated hepatic transaminases, Elongated superior cerebellar peduncle, Encephalocele, Enlarged fossa interpeduncularis, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Heterogeneous, Hyperreflexia, Hypertelorism, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intrahepatic biliary atresia, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Multiple small medullary renal cysts, Muscular hypotonia, Nephronophthisis, Nephropathy, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic nerve coloboma, Polydactyly, Polydipsia, Polyuria, Portal hypertension, Postaxial foot polydactyly, Postaxial hand polydactyly, Ptosis, Renal corticomedullary cysts, Renal insufficiency, Retinal degeneration, Round face, Sclerocornea, Sloping forehead, Spasticity, Splenomegaly, Stage 5 chronic kidney disease, Talipes, Thickened superior cerebellar peduncle, Tubular atrophy, Tubular basement membrane disintegration, Visual impairment, Wide mouth
tRG	PEX2	0.933550299	1.29E-05	Integral membrane protein	BrainSpLMD|5828;Eurexp|euxassay_006584|embryo	OMIM|170993;HPO|5828|Abnormal heart morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the helix, Abnormality of the liver, Abnormality of the palate, Anteverted nares, Areflexia, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, Brushfield spots, Camptodactyly, Cataract, Cerebellar atrophy, Chorioretinal abnormality, Cleft palate, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Cubitus valgus, Death in infancy, Decreased liver function, Depressed nasal bridge, Developmental regression, Difficulty running, Dolichocephaly, Dysarthria, Dysmetria, EEG abnormality, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Generalized neonatal hypotonia, Global developmental delay, Hepatic failure, Hepatomegaly, Hepatosplenomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypertelorism, Hyporeflexia, Hypospadias, Intellectual disability, Intrahepatic biliary dysgenesis, Intrauterine growth retardation, Jaundice, Large fontanelles, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrogyria, Malabsorption, Metatarsus adductus, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Muscular hypotonia, Neonatal hypotonia, Nyctalopia, Nystagmus, Oculomotor apraxia, Opacification of the corneal stroma, Optic atrophy, Optic nerve dysplasia, Palpebral edema, Pigmentary retinopathy, Polymicrogyria, Poor suck, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Renal cortical microcysts, Renal cyst, Respiratory insufficiency, Rod-cone dystrophy, Round face, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Single transverse palmar crease, Skeletal dysplasia, Slow progression, Slow saccadic eye movements, Spasticity, Splenomegaly, Stippled chondral calcification, Strabismus, Talipes equinovarus, Tremor, Underdeveloped supraorbital ridges, Unsteady gait, Upslanted palpebral fissure, Variable expressivity, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
tRG	TWSG1	0.504016442	1.29E-05	Secreted polypeptide	BrainSpLMD|57045	OMIM|605049
tRG	ANO5	0.780046999	1.30E-05	Integral membrane protein	BrainSpLMD|203859	OMIM|608662;HPO|203859|Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Bowing of the long bones, Broad jaw, Calf muscle hypertrophy, Diaphyseal cortical sclerosis, Difficulty climbing stairs, Difficulty running, Distal muscle weakness, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Facial palsy, Increased susceptibility to fractures, Mandibular osteomyelitis, Muscular dystrophy, Myalgia, Osteopenia, Pelvic girdle muscle weakness, Progressive, Proximal muscle weakness, Quadriceps muscle atrophy, Shoulder girdle muscle weakness, Thickened cortex of long bones, Variable expressivity
tRG	AARS	0.780595343	1.31E-05	Enzyme: Ligase	BrainSpLMD|16	OMIM|601065;HPO|16|Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Blepharospasm, CNS hypomyelination, Cerebral atrophy, Chorea, Congenital onset, Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment, Epileptic encephalopathy, Failure to thrive, Foot dorsiflexor weakness, Generalized hypotonia, Global developmental delay, Hammertoe, Hip dislocation, Intrauterine growth retardation, Microcephaly, Nystagmus, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Sensorineural hearing impairment, Short stature, Skeletal muscle atrophy, Spasticity, Variable expressivity
tRG	ACTR3B	1.375911741	1.35E-05	Cytoskeletal associated protein	BrainSpLMD|57180;Eurexp|euxassay_004135|olfactory lobe, ventricular layer	
tRG	MTHFD2	0.935628286	1.36E-05	Enzyme: Dehydrogenase	BrainSpLMD|10797	OMIM|604887
tRG	WASF2	0.366894473	1.40E-05	Cytoskeletal associated protein	BrainSpLMD|10163	OMIM|605875
tRG	PMPCB	0.26640588	1.46E-05	Protease	BrainSpLMD|9512	OMIM|603131
tRG	CREM	0.910297154	1.50E-05	Transcription factor	BrainSpLMD|1390	OMIM|123812
tRG	PDE8B	1.070212953	1.51E-05	Enzyme: Phosphodiesterase	BrainSpLMD|8622;Eurexp|euxassay_003225|adrenal gland, anterior, calyces, dermis, dorsal grey horn, mesenchyme, pancreas, posterior, skin, turbinate bones, ventral grey horn	OMIM|603390;HPO|8622|Adrenal hyperplasia, Autosomal dominant inheritance, Bradykinesia, Degeneration of the striatum, Diabetes mellitus, Dysarthria, Dysdiadochokinesis, Dysphagia, Fatigue, Gait disturbance, Hypertension, Hypogonadism, Hypokinesia, Increased circulating cortisol level, Increased susceptibility to fractures, Lower limb hyperreflexia, Muscle weakness, Osteoporosis, Pigmented micronodular adrenocortical disease, Rigidity, Short stature, Skeletal muscle atrophy, Slender build, Slow progression, Striae distensae, Symmetric lesions of the basal ganglia, Thin skin
tRG	C1orf27	0.353827162	1.55E-05			
tRG	CETN2	0.861430328	1.55E-05	Calcium binding protein	BrainSpLMD|1069;Eurexp|euxassay_015485|choroid plexus, lateral recess	OMIM|300006
tRG	FRS2	0.274195389	1.55E-05	Adapter molecule	BrainSpLMD|10818	OMIM|607743
tRG	PPCS	0.583804881	1.57E-05	Enzyme: Synthase	BrainSpLMD|79717	OMIM|609853
tRG	SMARCA2	0.595263774	1.58E-05	Transcription factor	BrainSpLMD|6595;Eurexp|euxassay_000790|cerebral cortex, mesenchyme	SFARI||Autism, No category;OMIM|600014;HPO|6595|Abnormal hair pattern, Abnormality of the metacarpal bones, Absence seizures, Absent eyebrow, Absent speech, Aggressive behavior, Alopecia, Anteverted nares, Aphasia, Autosomal dominant inheritance, Blepharophimosis, Brachydactyly, Broad distal phalanx of finger, Broad philtrum, Clubbing of toes, Cryptorchidism, Curly eyelashes, Dysphasia, Echolalia, Eczema, Epileptic spasms, Everted lower lip vermilion, Excessive wrinkled skin, Failure to thrive, Global developmental delay, High, narrow palate, Highly arched eyebrow, Hypotrichosis, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint dislocation, Long eyelashes, Long philtrum, Low anterior hairline, Microcephaly, Mutism, Narrow nasal bridge, Poor speech, Prominent interphalangeal joints, Sandal gap, Scoliosis, Seizures, Severe short stature, Short metacarpal, Short metatarsal, Short palm, Short palpebral fissure, Short phalanx of finger, Smooth philtrum, Sparse scalp hair, Specific learning disability, Status epilepticus, Thick lower lip vermilion, Thick nasal alae, Thin vermilion border, Triangular face, Wide intermamillary distance, Wide mouth, Wide nasal base
tRG	PIH1D1	0.311084074	1.58E-05	Unclassified	BrainSpLMD|55011	OMIM|611480
tRG	AKAP8	0.586889776	1.60E-05	Cell cycle control protein	BrainSpLMD|10270	OMIM|604692
tRG	ZDBF2	0.439708996	1.62E-05	Unclassified	Eurexp|euxassay_011111|diaphragm, footplate, handplate, mantle layer, paraxial mesenchyme, pituitary, rest of mesenchyme, skeletal muscle, vertebral axis muscle system	OMIM|617059
tRG	FKRP	0.733744438	1.63E-05	Unclassified	BrainSpLMD|79147	OMIM|606596;HPO|79147|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Abnormality of the cerebral white matter, Abnormality of the voice, Absent septum pellucidum, Achilles tendon contracture, Agenesis of corpus callosum, Anal atresia, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Atresia of the external auditory canal, Autosomal recessive inheritance, Blindness, Buphthalmos, Calf muscle hypertrophy, Cataract, Cerebellar atrophy, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Chorioretinal dysplasia, Cleft palate, Cleft upper lip, Cognitive impairment, Coloboma, Congenital contracture, Congenital muscular dystrophy, Congenital onset, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Death in childhood, Delayed gross motor development, Difficulty climbing stairs, Difficulty walking, Dilated cardiomyopathy, EEG abnormality, EMG abnormality, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Excessive daytime sleepiness, Facial palsy, Feeding difficulties in infancy, Frequent falls, Gait disturbance, Generalized muscle weakness, Glaucoma, Global developmental delay, Heterogeneous, Hydrocephalus, Hyperlordosis, Hypertonia, Hypoplasia of penis, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Hypoplastic male external genitalia, Hyporeflexia, Intellectual disability, Intellectual disability, profound, Intellectual disability, severe, Kyphosis, Left ventricular failure, Left ventricular hypertrophy, Lissencephaly, Macrocephaly, Macroglossia, Macrogyria, Megalocornea, Meningoencephalocele, Metatarsus valgus, Microcephaly, Microphthalmia, Microtia, Motor delay, Muscle cramps, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Myalgia, Myopathy, Myopia, Neonatal hypotonia, Neurological speech impairment, Nocturnal hypoventilation, Occipital encephalocele, Optic atrophy, Optic nerve hypoplasia, Pachygyria, Pelvic girdle muscle weakness, Peters anomaly, Phenotypic variability, Polymicrogyria, Posterior fossa cyst, Proximal amyotrophy, Proximal muscle weakness, Renal dysplasia, Respiratory insufficiency, Restrictive deficit on pulmonary function testing, Retinal atrophy, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Scoliosis, Seizures, Severe muscular hypotonia, Shoulder girdle muscle atrophy, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Specific learning disability, Strabismus, Thick cerebral cortex, Thigh hypertrophy, Toe walking, Type II lissencephaly, Variable expressivity, Vertebral fusion, Visual impairment, Waddling gait
tRG	TXNRD1	0.552621026	1.65E-05	Enzyme: Oxidoreductase	BrainSpLMD|7296;Eurexp|euxassay_018922|axial muscle, clavicle, dorsal root ganglion, incisor, liver, lung, mandible, mantle layer, maxilla, molar, neural retina, olfactory, pancreas, pharyngo-tympanic tube, rib, submandibular gland primordium, thymus primordium, thyroid, ventral grey horn, ventricular layer, vibrissa	OMIM|601112
tRG	TSPYL4	0.352573085	1.67E-05	Unclassified	BrainSpLMD|23270;Eurexp|euxassay_004360|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
tRG	METTL14	0.72379351	1.68E-05	Enzyme: Methyltransferase	BrainSpLMD|57721	OMIM|616504
tRG	SF3B3	0.370806832	1.69E-05	RNA binding protein	BrainSpLMD|23450	OMIM|605592
tRG	ROMO1	0.26702995	1.71E-05	Unclassified		
tRG	PLCB4	0.277522457	1.76E-05	GTPase activating protein;Enzyme: Phospholipase	BrainSpLMD|5332;BrainSpMouseDev|18562	OMIM|600810;HPO|5332|Apnea, Autosomal dominant inheritance, Autosomal recessive inheritance, Cleft at the superior portion of the pinna, Cleft palate, Dental crowding, Dental malocclusion, Hypoplastic superior helix, Low-set ears, Mandibular condyle aplasia, Mandibular condyle hypoplasia, Overfolding of the superior helices, Posteriorly rotated ears, Round face, Snoring, Speech articulation difficulties
tRG	GPAM	1.086472555	1.76E-05	Enzyme: Acyltransferase	BrainSpLMD|57678;Eurexp|euxassay_018573|left, right, ventricular layer	OMIM|602395
tRG	RAD23B	0.310876503	1.77E-05	DNA repair protein	BrainSpLMD|5887	OMIM|600062
tRG	USP40	0.918182159	1.80E-05	Ubiquitin proteasome system protein		OMIM|610570
tRG	NSRP1	0.639047221	1.81E-05	Unclassified	BrainSpLMD|84081	OMIM|616173
tRG	FAM19A5	0.38387289	1.83E-05	Chemokine	BrainSpLMD|25817;Eurexp|euxassay_011592|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, marginal layer, spinal cord, trigeminal V, vagus X	OMIM|617499
tRG	SORBS1	0.437089221	1.94E-05	Cell junction protein	BrainSpLMD|10580;Eurexp|euxassay_003610|axial skeleton, basisphenoid bone, bladder, brain, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, heart, hindlimb, incisor, lens, liver, lung, metanephros, midgut, nasal septum, oesophagus, olfactory, orbito-sphenoid, otic capsule, respiratory, retina, rib, spinal cord, sternum, stomach, tongue, trachea, trigeminal V, vagus X, vertebra, vertebral cartilage condensation, vestibulocochlear VIII;BrainSpMouseDev|20174	OMIM|605264
tRG	WDR6	1.097602576	1.95E-05	Integral membrane protein	BrainSpLMD|11180	OMIM|606031
tRG	IGF2BP2	0.346856597	1.96E-05	RNA binding protein	BrainSpLMD|10644	OMIM|608289
tRG	PM20D2	1.035302801	2.02E-05	Metallo protease		OMIM|615913
tRG	HK2	0.286823155	2.06E-05	Enzyme: Phosphotransferase	BrainSpLMD|3099	OMIM|601125
tRG	TENM1	0.441001672	2.09E-05	Integral membrane protein	BrainSpLMD|10178	OMIM|300588
tRG	SDHC	0.688592051	2.11E-05	Enzyme: Dehydrogenase	BrainSpLMD|6391	OMIM|602413;COSMIC||paraganglioma, pheochromocytoma;HPO|6391|Abdominal pain, Abnormality of the penis, Adenoma sebaceum, Adrenal pheochromocytoma, Adult onset, Ataxia, Autosomal dominant inheritance, Breast carcinoma, Cavernous hemangioma, Chemodectoma, Cognitive impairment, Colorectal polyposis, Conjunctival hamartoma, Constipation, Cranial nerve paralysis, Dysphagia, Elevated circulating catecholamine level, Episodic paroxysmal anxiety, Extraadrenal pheochromocytoma, Fatigue, Furrowed tongue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Generalized hyperkeratosis, Global developmental delay, Glomus jugular tumor, Goiter, Hamartomatous polyposis, Hearing impairment, Hoarse voice, Hyperhidrosis, Hyperpigmentation of the skin, Hypertension associated with pheochromocytoma, Intellectual disability, Intestinal obstruction, Large hands, Lipoma, Loss of voice, Macrocephaly, Macroglossia, Macule, Melanocytic nevus, Meningioma, Mucosal telangiectasiae, Nausea and vomiting, Neoplasm of the gastrointestinal tract, Neoplasm of the stomach, Neurofibromas, Palmoplantar keratoderma, Palpitations, Papilloma, Papule, Paraganglioma, Pulsatile tinnitus, Recurrent paroxysmal headache, Sarcoma, Sporadic, Subcutaneous nodule, Tachycardia, Tinnitus, Urticaria, Vocal cord paralysis, Weight loss
tRG	GTPBP4	0.391183922	2.11E-05	GTPase	BrainSpLMD|23560	
tRG	FAM92A1	0.321244175	2.14E-05			
tRG	NR4A3	0.765786807	2.21E-05	Nuclear receptor	BrainSpLMD|8013;Eurexp|euxassay_016920|floorplate, marginal layer;BrainSpMouseDev|17891	OMIM|600542;COSMIC||extraskeletal myxoid chondrosarcoma;HPO|8013|Chondrosarcoma, Somatic mutation
tRG	WDR61	0.410328937	2.22E-05	Unclassified	BrainSpLMD|80349	OMIM|609540
tRG	BAI3	0.282796939	2.26E-05			
tRG	IRS1	0.819293635	2.28E-05	Adapter molecule	BrainSpLMD|3667	OMIM|147545
tRG	ZDHHC13	0.65656404	2.29E-05	Unclassified	BrainSpLMD|54503;Eurexp|euxassay_013713|cortex, epithelium, molar, olfactory, vibrissa, vomeronasal organ	OMIM|612815
tRG	ADCY2	0.808654155	2.30E-05	Adenylate cyclase	BrainSpLMD|108;BrainSpMouseDev|84170	OMIM|103071
tRG	PDZD8	0.288093267	2.33E-05	Unclassified	BrainSpLMD|118987	OMIM|614235
tRG	KIF13A	0.439594769	2.42E-05	Motor protein	BrainSpLMD|63971;Eurexp|euxassay_011388|anterior, bladder, dorsal root ganglion, external, facial VII, incisor, left lung, mantle layer, molar, naso-lacrimal duct, oral epithelium, pharyngo-tympanic tube, right lung, submandibular gland primordium, urethra	OMIM|605433
tRG	ESD	0.297100872	2.44E-05	Enzyme: Esterase	BrainSpLMD|2098	OMIM|133280
tRG	ELP5	0.909031958	2.45E-05	Unclassified	BrainSpLMD|23587	OMIM|615019
tRG	PUM1	0.422605321	2.49E-05	RNA binding protein	BrainSpLMD|9698	OMIM|607204
tRG	SOWAHC	0.432274244	2.52E-05	Unclassified		
tRG	ECI2	0.254313673	2.58E-05	Enzyme: Isomerase;Unclassified	BrainSpLMD|10455	OMIM|608024
tRG	SESN3	0.528774899	2.60E-05	Cell cycle control protein	BrainSpLMD|143686	OMIM|607768
tRG	C14orf1	0.294850544	2.64E-05			
tRG	ST13P4	1.399227621	2.64E-05		BrainSpLMD|145165	
tRG	ZNF22	0.463383166	2.67E-05	DNA binding protein	BrainSpLMD|7570;Eurexp|euxassay_004421|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|194529
tRG	LONRF1	0.66098696	2.67E-05	Ubiquitin proteasome system protein	BrainSpLMD|91694	
tRG	EMP2	0.669705474	2.69E-05	Cell cycle control protein	BrainSpLMD|2013;Eurexp|euxassay_013721|bladder, epithelium, incisor, larynx, left lung, mantle layer, marginal layer, midgut, molar, pharyngo-tympanic tube, rectum, right lung, skeletal muscle, stomach, thymus primordium, trachea, urethra, ventricular layer, vibrissa	OMIM|602334;HPO|2013|Autosomal recessive inheritance, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome
tRG	UFSP2	0.433125882	2.75E-05	Protease	BrainSpLMD|55325;Eurexp|euxassay_002185|orbito-sphenoid, turbinate	OMIM|611482;HPO|55325|Abnormal ossification involving the femoral head and neck, Abnormality of bone mineral density, Abnormality of the epiphysis of the femoral head, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Broad femoral neck, Childhood onset, Flat capital femoral epiphysis, Hip dysplasia, Irregular capital femoral epiphysis, Osteoarthritis, Shallow acetabular fossae, Wide proximal femoral metaphysis
tRG	CDV3	0.341139463	2.76E-05	Unclassified	BrainSpLMD|55573	
tRG	ZHX3	0.322033381	2.78E-05	Transcription regulatory protein	BrainSpLMD|23051;Eurexp|euxassay_019571|cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, midgut, thoracic, trigeminal V, vagus X, vibrissa;BrainSpMouseDev|107734	OMIM|609598
tRG	HSD17B7	0.796926185	2.82E-05	Enzyme: Dehydrogenase	Eurexp|euxassay_000551|dorsal root ganglion, marginal layer, neural retina, spleen primordium, testis	OMIM|606756
tRG	IRS2	0.384183105	2.84E-05	Adapter molecule	BrainSpLMD|8660;Eurexp|euxassay_014216|cortex, dorsal root ganglion, incisor, lip, molar, skeleton, skin, thymus primordium, ventricular layer	OMIM|600797
tRG	GGCT	0.278288222	2.95E-05	Unclassified	BrainSpLMD|79017	OMIM|137170
tRG	ITM2C	0.594299423	2.95E-05	Integral membrane protein	BrainSpLMD|81618	OMIM|609554
tRG	ELOVL2	1.207626091	2.96E-05	Unclassified	BrainSpLMD|54898;Eurexp|euxassay_006217|adenohypophysis, brain, calyces, cervical, cervico-thoracic, left, olfactory, right, spinal cord, thoracic, thyroid	OMIM|611814
tRG	DUSP3	0.817509075	3.06E-05	Dual specificity phosphatase	BrainSpLMD|1845;Eurexp|euxassay_001212|glossopharyngeal IX, vagus X	OMIM|600183
tRG	KIAA1683	0.837185316	3.13E-05			
tRG	MORN2	0.946156116	3.15E-05	Unclassified	BrainSpLMD|729967	
tRG	RPS9	0.45121765	3.15E-05	Ribosomal subunit		OMIM|603631
tRG	ENHO	0.375539679	3.16E-05	Unclassified	BrainSpLMD|375704	
tRG	NOL7	0.398219012	3.19E-05	Unclassified	BrainSpLMD|51406	OMIM|611533
tRG	TLE1	0.680468942	3.20E-05	Transcription regulatory protein	BrainSpLMD|7088;Eurexp|euxassay_017921|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, pituitary, stroma, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|21644	OMIM|600189
tRG	OCLM	0.899957386	3.22E-05	Unclassified	BrainSpLMD|10896	OMIM|604301
tRG	ADAM17	0.949199694	3.41E-05	Metallo protease	BrainSpLMD|6868;BrainSpMouseDev|11279	OMIM|603639;HPO|6868|Autosomal recessive inheritance, Blepharitis, Eosinophilia, Erythema, Erythroderma, Hematochezia, Paronychia, Pustule, Thick nail, Villous atrophy
tRG	LAMTOR3	0.420683356	3.41E-05	Adapter molecule	BrainSpLMD|8649	OMIM|603296
tRG	VSIG10	0.747898804	3.42E-05	Unclassified	BrainSpLMD|54621	
tRG	HSPA1B	0.409751375	3.52E-05	Chaperone	BrainSpLMD|3304	OMIM|603012
tRG	LNPEP	0.637432907	3.64E-05	Aminopeptidase	BrainSpLMD|4012	OMIM|151300
tRG	MRPS18A	0.282502501	3.69E-05	Ribosomal subunit	BrainSpLMD|55168	OMIM|611981
tRG	USO1	0.293503941	3.76E-05	Transport/cargo protein	BrainSpLMD|8615	OMIM|603344
tRG	PHC3	0.274347166	3.82E-05	Unclassified	BrainSpLMD|80012	
tRG	NPM1P6	0.577666799	3.96E-05			
tRG	IPO5	0.409405508	4.06E-05	Transport/cargo protein	BrainSpLMD|3843	OMIM|602008
tRG	LAMP2	0.631423382	4.07E-05	Adhesion molecule	BrainSpLMD|3920	OMIM|309060;HPO|3920|Arrhythmia, Cardiomegaly, Cardiorespiratory arrest, Cognitive impairment, Dilated cardiomyopathy, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Exercise intolerance, Exercise-induced muscle cramps, Gait disturbance, Generalized amyotrophy, Global developmental delay, Hypertrophic cardiomyopathy, Hypokinesia, Intellectual disability, Muscle flaccidity, Myocardial fibrosis, Myocardial necrosis, Pes cavus, Phenotypic variability, Proximal muscle weakness, Visual impairment, Wolff-Parkinson-White syndrome, X-linked dominant inheritance
tRG	RNF114	0.82187188	4.09E-05	Ubiquitin proteasome system protein	BrainSpLMD|55905	OMIM|612451
tRG	HIGD2A	0.567789932	4.16E-05	Unclassified	BrainSpLMD|192286	
tRG	FAM53C	0.412640351	4.23E-05	Unclassified	BrainSpLMD|51307	OMIM|609372
tRG	AFF1	0.620224249	4.29E-05	Transcription factor	BrainSpLMD|4299	OMIM|159557;COSMIC||AL
tRG	ERCC1	0.358825675	4.29E-05	DNA repair protein	BrainSpLMD|2067	OMIM|126380;HPO|2067|Abnormal nasal morphology, Abnormality of immune system physiology, Adducted thumb, Aplasia/Hypoplasia of the cerebellum, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Bilateral microphthalmos, Blepharophimosis, Camptodactyly of finger, Cataract, Cerebellar hypoplasia, Cerebral calcification, Cerebral cortical atrophy, Congenital onset, Cortical gyral simplification, Cutaneous photosensitivity, Death in infancy, Deeply set eye, Dislocated radial head, EEG abnormality, Everted lower lip vermilion, Failure to thrive in infancy, Feeding difficulties in infancy, Flared metaphysis, Flexion contracture of toe, Global developmental delay, Hip dislocation, Hyperreflexia, Hypertonia, Hypogonadism, Intrauterine growth retardation, Joint stiffness, Kyphoscoliosis, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Microphthalmia, Muscular hypotonia, Nystagmus, Polymicrogyria, Premature closure of fontanelles, Prominent metopic ridge, Prominent nasal bridge, Reduced tendon reflexes, Rocker bottom foot, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Short neck, Short philtrum, Short stature, Slender long bone, Variable expressivity, Visual impairment, Wide nasal bridge
tRG	EEF1A1P6	0.30885461	4.40E-05			
tRG	RHOB	0.31165807	4.45E-05	GTPase	BrainSpLMD|388;Eurexp|euxassay_016450|floor plate, floorplate, mantle layer, marginal layer	OMIM|165370
tRG	DDX18	0.279156471	4.61E-05	Transport/cargo protein	BrainSpLMD|8886	OMIM|606355
tRG	SPG20	0.493058238	4.63E-05			
tRG	TMBIM4	0.288943767	4.65E-05	Integral membrane protein;Unclassified	BrainSpLMD|51643;Eurexp|euxassay_009275|embryo	OMIM|616874
tRG	UROD	0.765690002	4.68E-05	Enzyme: Decarboxylase	BrainSpLMD|7389;Eurexp|euxassay_009238|liver, marginal layer, ventricular layer	OMIM|613521;HPO|7389|Alopecia, Autosomal dominant inheritance, Cirrhosis, Cutaneous photosensitivity, Facial hypertrichosis, Fragile skin, Hemolytic anemia, Hepatocellular carcinoma, Hyperpigmentation in sun-exposed areas, Onycholysis, Scleroderma, Thin skin
tRG	TAF9B	0.724926261	4.70E-05	Transcription regulatory protein	BrainSpLMD|51616	OMIM|300754
tRG	PIP5K1A	0.337464329	4.71E-05	Lipid Kinase	BrainSpLMD|8394;Eurexp|euxassay_018593|incisor, vibrissa	OMIM|603275
tRG	EIF3I	0.37402269	4.79E-05	Translation regulatory protein	BrainSpLMD|8668;Eurexp|euxassay_008278|embryo	OMIM|603911
tRG	TSPO	0.829940805	4.82E-05	Integral membrane protein	BrainSpLMD|706;Eurexp|euxassay_005714|liver	OMIM|109610
tRG	ADAM10	0.320581019	4.84E-05	Metallo protease	BrainSpLMD|102;Eurexp|euxassay_007598|anterior, dorsal root ganglion, epithelium, external, facial VII, glossopharyngeal IX, inner ear, lens, liver, naso-lacrimal duct, neural retina, olfactory, pectoral girdle and thoracic body wall, trigeminal V, vagus X;BrainSpMouseDev|11275	OMIM|602192;HPO|102|Autosomal dominant inheritance
tRG	VOPP1	0.290009728	4.86E-05	Transcription regulatory protein	BrainSpLMD|81552;Eurexp|euxassay_012572|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611915
tRG	C8orf59	0.678673273	4.92E-05	Unclassified	BrainSpLMD|401466	
tRG	PREPL	0.260580098	4.95E-05	Serine protease	BrainSpLMD|9581;Eurexp|euxassay_004469|bladder, brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, retina, spinal cord, thoracic, tongue, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII	OMIM|609557;HPO|9581|Autosomal recessive inheritance, Congenital onset, Cystinuria, Decreased fetal movement, Depressed nasal bridge, Dolichocephaly, Epicanthus, Failure to thrive, Fatigue, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, Growth delay, Growth hormone deficiency, Hypocalcemia, Hypogonadism, Intellectual disability, moderate, Lactic acidosis, Long eyelashes, Low-set, posteriorly rotated ears, Mitochondrial respiratory chain defects, Motor delay, Muscular hypotonia, Nasal speech, Nephrolithiasis, Polyphagia, Ptosis, Retrognathia, Seizures, Short stature, Tented upper lip vermilion
tRG	HCFC1	0.373254251	4.96E-05	Transcription factor	BrainSpLMD|3054	SFARI||Autism, No category;OMIM|300019;HPO|3054|Brachycephaly, Failure to thrive, Generalized hypotonia, Hypsarrhythmia, Infantile onset, Intellectual disability, Methylmalonic acidemia, Methylmalonic aciduria, Microcephaly, Short stature, X-linked inheritance, X-linked recessive inheritance
tRG	QARS	0.689549362	5.02E-05	Enzyme: Ligase	BrainSpLMD|5859	OMIM|603727;HPO|5859|Autosomal recessive inheritance, CNS hypomyelination, Cerebellar vermis atrophy, Cerebral atrophy, Epicanthus, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Hypotelorism, Low-set ears, Narrow forehead, Posteriorly rotated ears, Progressive, Progressive microcephaly, Sloping forehead, Status epilepticus, Ventriculomegaly
tRG	HIST2H2BE	0.665161157	5.16E-05	DNA binding protein	BrainSpLMD|8349	OMIM|601831
tRG	CDK4	0.555927458	5.19E-05	Cell cycle control protein	BrainSpLMD|1019;Eurexp|euxassay_018619|ventricular layer	OMIM|123829;COSMIC||melanoma;HPO|1019|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus, Subcutaneous nodule
tRG	TVP23B	0.659179499	5.29E-05	Integral membrane protein	BrainSpLMD|51030;Eurexp|euxassay_019263|lung	
tRG	LRRC42	0.296886666	5.46E-05	Unclassified	BrainSpLMD|115353;Eurexp|euxassay_000277|Meckel's cartilage, cranium, dorsal root ganglion, molar, ventral grey horn	
tRG	TCF7L2	0.314651512	5.46E-05	Transcription factor	BrainSpLMD|6934;Eurexp|euxassay_019472|lip, mantle layer, mesenchyme, midgut, pancreas, phalanx, skeletal muscle, sternum, stomach, trachea, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|21177	SFARI||Autism, 3 - Suggestive evidence;OMIM|602228;COSMIC||colorectal
tRG	CCDC47	0.264340265	5.51E-05	Unclassified	BrainSpLMD|57003;Eurexp|euxassay_000833|submandibular gland primordium	
tRG	WWTR1	0.445034822	5.55E-05	Transcription regulatory protein	BrainSpLMD|25937;Eurexp|euxassay_000592|limb, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|61234	OMIM|607392;COSMIC||epithelioid haemangioendothelioma
tRG	ZNF217	0.784068848	5.58E-05	Transcription factor	BrainSpLMD|7764	OMIM|602967
tRG	TBL1X	0.765592183	5.58E-05	Cell cycle control protein	BrainSpLMD|6907	SFARI||Autism, 4 - Minimal evidence;OMIM|300196
tRG	GAPDHP65	0.264129841	5.66E-05			
tRG	PTPN13	0.502052563	5.67E-05	Tyrosine phosphatase	BrainSpLMD|5783	OMIM|600267;COSMIC||lung, NSCLC, gastric, peritoneal carcinomatosis, hepatocellular
tRG	HSP90AB2P	0.579426622	5.81E-05	-		
tRG	GTF2IRD2B	0.654352134	6.02E-05	Transcription factor		OMIM|608900
tRG	LSS	0.669173873	6.03E-05	Enzyme: Mutase	BrainSpLMD|4047;Eurexp|euxassay_017872|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lobe, mandible, mantle layer, molar, neural retina, thoracic, thymus primordium, trigeminal V, ventricular layer, vibrissa	OMIM|600909;HPO|4047|Autosomal recessive inheritance, Congenital cataract, Visual loss
tRG	RAB3GAP2	0.385815569	6.14E-05	GTPase activating protein	BrainSpLMD|25782	OMIM|609275;HPO|25782|Abnormal dermatoglyphics, Abnormal toenail morphology, Abnormality of retinal pigmentation, Abnormality of the distal phalanx of finger, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Asymmetry of the ears, Autosomal recessive inheritance, Brachycephaly, Broad fingertip, Broad nasal tip, Cardiomyopathy, Cataract, Cerebral cortical atrophy, Clitoral hypoplasia, Congenital cataract, Congestive heart failure, Cortical visual impairment, Cryptorchidism, Delayed puberty, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, Feeding difficulties in infancy, Flexion contracture, Furrowed tongue, Generalized hirsutism, Global brain atrophy, Global developmental delay, High palate, Hyperlordosis, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypotelorism, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphosis, Lissencephaly, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Macrotia, Malar flattening, Metatarsus adductus, Microcephaly, Microcornea, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Misalignment of teeth, Muscular hypotonia, Muscular hypotonia of the trunk, Optic atrophy, Overlapping toe, Pachygyria, Pectus carinatum, Pectus excavatum, Polymicrogyria, Posteriorly rotated ears, Postnatal growth retardation, Postnatal microcephaly, Prematurely aged appearance, Prominent antitragus, Prominent nasal bridge, Prominent nipples, Recurrent respiratory infections, Scoliosis, Scrotal hypoplasia, Severe global developmental delay, Short metacarpal, Short nose, Short palm, Short phalanx of finger, Short philtrum, Short stature, Short toe, Slender ulna, Spasticity, Talipes equinovarus, Talipes valgus, Tracheomalacia, Ulnar deviation of finger, Undetectable visual evoked potentials, Wide nasal bridge
tRG	GARS	0.670022559	6.15E-05	Enzyme: Ligase	BrainSpLMD|2617	OMIM|600287;HPO|2617|Autosomal dominant inheritance, Cold-induced hand cramps, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, First dorsal interossei muscle atrophy, First dorsal interossei muscle weakness, Hammertoe, Hyporeflexia, Onset, Pes cavus, Scoliosis, Slow progression, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness
tRG	LDLRAD3	0.857851366	6.21E-05	Unclassified	BrainSpLMD|143458;Eurexp|euxassay_011393|dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, stomach, trigeminal V, vagus X, vestibulocochlear VIII	
tRG	DNAJB4	0.392305317	6.21E-05	Heat shock protein	BrainSpLMD|11080	OMIM|611327
tRG	ZSCAN18	0.295464139	6.28E-05	Transcription factor	BrainSpLMD|65982	
tRG	RTCB	0.288490073	6.31E-05	Unclassified	BrainSpLMD|51493	OMIM|613901
tRG	EIF2AK3	0.381627106	6.73E-05	Translation regulatory protein	BrainSpLMD|9451	OMIM|604032;HPO|9451|Abnormal heart morphology, Abnormality of the metaphysis, Acute hepatic failure, Autosomal recessive inheritance, Barrel-shaped chest, Brachydactyly, Carpal bone hypoplasia, Chronic hepatic failure, Cone-shaped epiphyses of the phalanges of the hand, Coxa valga, Death in infancy, Dehydration, Delayed skeletal maturation, Depressed nasal bridge, Elevated hepatic transaminases, Enlarged thorax, Epicanthus, Epiphyseal dysplasia, Flattened epiphysis, Gait disturbance, Genu valgum, Global developmental delay, Glycosuria, Hepatomegaly, High forehead, High palate, Hip dislocation, Hip subluxation, Hyperglycemia, Hyperlordosis, Hypermetropia, Hypertelorism, Hypertonia, Hyperuricemia, Hypoplasia of the odontoid process, Infantile onset, Insulin-resistant diabetes mellitus, Intellectual disability, Intracerebral periventricular calcifications, Irregular carpal bones, Irregular tarsal ossification, Irregular vertebral endplates, Ivory epiphyses of the phalanges of the hand, Ivory epiphyses of the toes, Ketoacidosis, Microcephaly, Microdontia, Motor delay, Multiple epiphyseal dysplasia, Muscular hypotonia, Narrow iliac wings, Neutropenia, Osteopenia, Osteoporosis, Platyspondyly, Preauricular pit, Reduced pancreatic beta cells, Renal insufficiency, Renal tubular dysfunction, Short stature, Short thorax, Shortening of all middle phalanges of the fingers, Small epiphyses, Steatorrhea, Thin vermilion border, Transient neonatal diabetes mellitus, Triangular face, Type I diabetes mellitus, Upslanted palpebral fissure, Weight loss
tRG	SEPN1	0.337788065	7.04E-05			
tRG	ZMYM5	0.407494414	7.09E-05	Unclassified	BrainSpLMD|9205	OMIM|616443
tRG	TPM2	0.825749624	7.20E-05	Cytoskeletal protein	BrainSpLMD|7169	OMIM|190990;HPO|7169|Abnormality of the ear, Abnormality of the hip bone, Absent phalangeal crease, Adducted thumb, Aplasia/Hypoplasia of the radius, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bulbar palsy, Calcaneovalgus deformity, Camptodactyly, Camptodactyly of finger, Centrally nucleated skeletal muscle fibers, Childhood onset, Congenital onset, Decreased fetal movement, Difficulty walking, Dilated cardiomyopathy, Distal arthrogryposis, Downslanted palpebral fissures, Dysphagia, Elbow flexion contracture, Facial diplegia, Facial palsy, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Generalized muscle weakness, Gowers sign, Heterogeneous, High palate, Hyporeflexia, Joint stiffness, Kyphoscoliosis, Limb muscle weakness, Long face, Long philtrum, Lumbar hyperlordosis, Mandibular prognathia, Metatarsus adductus, Micrognathia, Motor delay, Muscular hypotonia, Myopathic facies, Myopathy, Narrow face, Narrow mouth, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Overlapping fingers, Pectus excavatum, Prominent nasolabial fold, Protruding ear, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Reduced tendon reflexes, Reduced vital capacity, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Rocker bottom foot, Round ear, Scapular winging, Scoliosis, Short neck, Short stature, Skeletal muscle atrophy, Talipes, Talipes equinovarus, Tarsal synostosis, Triangular face, Type 1 fibers relatively smaller than type 2 fibers, Type 1 muscle fiber predominance, Ulnar deviation of finger, Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the wrist, Variable expressivity, Vertebral segmentation defect, Waddling gait, Weak cry, Webbed neck, Wide nasal bridge
tRG	SMAD9	0.568441334	7.35E-05	Transcription factor;Unclassified	BrainSpLMD|4093;BrainSpMouseDev|35279	OMIM|603295;HPO|4093|Autosomal dominant inheritance, Incomplete penetrance, Increased pulmonary vascular resistance, Progressive, Pulmonary arterial hypertension
tRG	ZCCHC3	0.349774634	7.39E-05	Unclassified	BrainSpLMD|85364;Eurexp|euxassay_012888|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, humerus, mantle layer, orbito-sphenoid, pelvic girdle, rib, scapula, temporal bone, vault of skull, ventral grey horn	
tRG	ACO2	0.282920439	7.46E-05	Enzyme: Hydratase	BrainSpLMD|50;Eurexp|euxassay_018547|atrium, axial muscle, mantle layer, metanephros, midgut, pancreas, ventral grey horn, ventricle	OMIM|100850;HPO|50|Areflexia, Ataxia, Athetosis, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral cortical atrophy, Demyelinating peripheral neuropathy, Failure to thrive, Generalized hypotonia, Hypoplasia of the corpus callosum, Hyporeflexia, Infantile onset, Intellectual disability, severe, Nystagmus, Optic atrophy, Paracentral scotoma, Progressive microcephaly, Red-green dyschromatopsia, Reduced visual acuity, Retinal dystrophy, Seizures, Severe global developmental delay, Strabismus, Visual impairment
tRG	SDHAP3	0.681052153	7.64E-05			
tRG	UCP2	0.480815699	7.67E-05	Transport/cargo protein	BrainSpLMD|7351;Eurexp|euxassay_010584|liver, olfactory, vibrissa, vomeronasal organ	OMIM|601693;HPO|7351|Abnormality of fatty-acid metabolism, Coma, Diarrhea, Hepatomegaly, Hyperhidrosis, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Neonatal hypoglycemia, Pallor, Pancreatic islet-cell hyperplasia, Progressive neurologic deterioration, Tachycardia, Vomiting
tRG	FAM120AOS	0.404215252	7.72E-05	Unclassified	BrainSpLMD|158293	
tRG	NSDHL	0.77546509	7.90E-05	Enzyme: Dehydrogenase	BrainSpLMD|50814	OMIM|300275;HPO|50814|Abnormal cortical bone morphology, Abnormality of digit, Abnormality of the cardiac septa, Abnormality of the nail, Aggressive behavior, Almond-shaped palpebral fissure, Aplasia/hypoplasia of the extremities, Cleft upper lip, Congenital ichthyosiform erythroderma, Delayed speech and language development, Dental crowding, Epicanthus, Epiphyseal stippling, Generalized hypotonia, Global developmental delay, Heterogeneous, High palate, Hydronephrosis, Hyperactivity, Hyperkeratosis, Hyperlordosis, Hypoplastic pelvis, Intellectual disability, Intellectual disability, mild, Irritability, Joint hypermobility, Kyphosis, Long face, Malar flattening, Microcephaly, Micrognathia, Mild intrauterine growth retardation, Narrow face, Pachygyria, Parakeratosis, Polymicrogyria, Posteriorly rotated ears, Prominent nasal bridge, Retrognathia, Scoliosis, Seizures, Single ventricle, Sleep disturbance, Slender build, Strabismus, Umbilical hernia, Upslanted palpebral fissure, X-linked dominant inheritance, X-linked recessive inheritance
tRG	ITGB1P1	0.680569887	7.93E-05			
tRG	ZNF83	0.390333614	8.10E-05	DNA binding protein	BrainSpLMD|55769	OMIM|194558
tRG	PHF10	0.681167686	8.13E-05	Transcription regulatory protein	BrainSpLMD|55274	OMIM|613069
tRG	HADHA	0.307091297	8.35E-05	Enzyme: Dehydrogenase	BrainSpLMD|3030	OMIM|600890;HPO|3030|Abnormality of the amniotic fluid, Autosomal recessive inheritance, Cardiomyopathy, Congestive heart failure, Decreased activity of 3-hydroxyacyl-CoA dehydrogenase, Dilated cardiomyopathy, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Generalized muscle weakness, Global developmental delay, Hepatomegaly, Hydrops fetalis, Hyperammonemia, Hypoglycemia, Hypoketotic hypoglycemia, Lactic acidosis, Muscular hypotonia, Myalgia, Myoglobinuria, Peripheral neuropathy, Pigmentary retinopathy, Prenatal maternal abnormality, Respiratory failure, Rhabdomyolysis, Small for gestational age, Sudden death
tRG	WBP4	0.391224778	8.53E-05	RNA binding protein	BrainSpLMD|11193	OMIM|604981
tRG	CAP1	0.466539122	8.58E-05	Unclassified	BrainSpLMD|10487	
tRG	XYLT1	0.519294622	8.68E-05	Enzyme: Transferase	BrainSpLMD|64131	OMIM|608124;HPO|64131|Abnormality of the eyelashes, Abnormality of the metaphysis, Accelerated skeletal maturation, Advanced ossification of carpal bones, Anteverted nares, Aplasia/Hypoplasia of the abdominal wall musculature, Autosomal recessive inheritance, Bell-shaped thorax, Blue sclerae, Camptodactyly of finger, Clinodactyly of the 5th finger, Coxa valga, Coxa vara, Depressed nasal bridge, Disproportionate short-limb short stature, Elbow dislocation, Epiphyseal dysplasia, Flat face, Genu recurvatum, Glaucoma, Hypotrichosis, Intellectual disability, Joint hyperflexibility, Joint laxity, Long philtrum, Low-set, posteriorly rotated ears, Metaphyseal widening, Patellar dislocation, Proptosis, Radioulnar synostosis, Relative macrocephaly, Round face, Scoliosis, Severe short stature, Short clavicles, Short long bone, Short metacarpal, Short neck, Short phalanx of finger, Short stature, Small hand, Ventricular septal defect
tRG	IQCG	0.683808163	9.02E-05	Unclassified	BrainSpLMD|84223;Eurexp|euxassay_003706|choroid plexus, lateral recess, olfactory, roof plate, ventricular layer	OMIM|612477
tRG	UBE2G2	0.416064167	9.23E-05	Ubiquitin proteasome system protein	BrainSpLMD|7327	OMIM|603124
tRG	EIF2S2	0.28910732	9.27E-05	Translation regulatory protein	BrainSpLMD|8894	OMIM|603908
tRG	UTRN	0.694771857	9.36E-05	Anchor protein	BrainSpLMD|7402;Eurexp|euxassay_013991|bladder, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, primitive seminiferous tubules, rectum, stomach, trigeminal V, urethra	SFARI||Autism, No category;OMIM|128240
tRG	CNKSR2	0.613706183	9.51E-05	Unclassified	BrainSpLMD|22866	SFARI||Autism, 3 - Suggestive evidence;OMIM|300724;HPO|22866|Intellectual disability
tRG	NME4	0.590528014	9.59E-05	Enzyme: Phosphotransferase	BrainSpLMD|4833	OMIM|601818
tRG	NARS	0.44265517	9.72E-05	Enzyme: Ligase	BrainSpLMD|4677	OMIM|108410
tRG	VCP	0.304841194	0.000100565	ATPase	BrainSpLMD|7415	OMIM|601023;HPO|7415|Abnormal brain FDG positron emission tomography, Abnormal nerve conduction velocity, Abnormality of pelvic girdle bone morphology, Abnormality of the cerebral white matter, Absent Achilles reflex, Aggressive behavior, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apraxia, Arthralgia, Autosomal dominant inheritance, Babinski sign, Back pain, Collectionism, Depressivity, Difficulty climbing stairs, Disinhibition, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, Dyspnea, Dystonia, EEG with continuous slow activity, EMG: neuropathic changes, Echolalia, Elevated alkaline phosphatase, Elevated alkaline phosphatase of bone origin, Elevated serum creatine phosphokinase, Emotional blunting, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontal cortical atrophy, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait disturbance, Gait imbalance, Generalized muscle weakness, Grammar-specific speech disorder, Hammertoe, Hip pain, Hyperorality, Impaired vibration sensation in the lower limbs, Inappropriate behavior, Irritability, Lack of insight, Limb fasciculations, Limb muscle weakness, Loss of speech, Lower limb hyperreflexia, Lumbar hyperlordosis, Memory impairment, Muscle cramps, Muscle weakness, Myopathy, Neurodegeneration, Pain, Paralysis, Pelvic girdle amyotrophy, Pelvic girdle muscle atrophy, Pelvic girdle muscle weakness, Perseveration, Personality changes, Pes cavus, Poor speech, Progressive, Proximal muscle weakness, Respiratory failure, Restlessness, Restrictive behavior, Rimmed vacuoles, Scapular winging, Shoulder girdle muscle atrophy, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Spastic gait, Spastic paraplegia, Spasticity, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold, Tongue fasciculations, Variable expressivity, Xerostomia
tRG	GPCPD1	0.572425411	0.000101303	Enzyme: Phosphodiesterase	BrainSpLMD|56261	OMIM|614124
tRG	LYPLAL1	0.923262566	0.000102825	Unclassified	BrainSpLMD|127018	OMIM|616548
tRG	MRPL3	0.540646536	0.000102947	Ribosomal subunit	BrainSpLMD|11222	OMIM|607118;HPO|11222|Autosomal recessive inheritance, Dyspnea, Elevated hepatic transaminases, Failure to thrive, Feeding difficulties, Global developmental delay, Hepatomegaly, Hyperalaninemia, Hypertrophic cardiomyopathy, Increased serum lactate
tRG	SLK	0.794173906	0.000105341	Serine/threonine kinase	BrainSpLMD|9748;Eurexp|euxassay_012162|facial VII, midgut, molar, oesophagus, oral epithelium, rectum, stomach, thymus primordium, thyroid	OMIM|616563
tRG	SYAP1	0.336002745	0.000106289	Transport/cargo protein	BrainSpLMD|94056;Eurexp|euxassay_000499|incisor	SFARI||Autism, No category
tRG	ARL13B	0.409738655	0.000109105	Unclassified;G protein	BrainSpLMD|200894	OMIM|608922;HPO|200894|Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Cerebellar vermis hypoplasia, Episodic tachypnea, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Intellectual disability, Long face, Molar tooth sign on MRI, Muscular hypotonia, Nystagmus, Obesity, Oculomotor apraxia, Optic disc pallor, Pigmentary retinopathy
tRG	SEC24D	0.972525369	0.000110533	Transport/cargo protein	BrainSpLMD|9871;Eurexp|euxassay_010979|marginal layer	OMIM|607186;HPO|9871|Abnormal form of the vertebral bodies, Abnormality of dental enamel, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the voice, Autosomal recessive inheritance, Blue sclerae, Bowing of the long bones, Communicating hydrocephalus, Coronal craniosynostosis, Crumpled long bones, Delayed eruption of teeth, Downslanted palpebral fissures, Frontal bossing, High palate, High pitched voice, Hydrocephalus, Hypertelorism, Intrauterine growth retardation, Kyphosis, Lambdoidal craniosynostosis, Macrocephaly, Micrognathia, Microretrognathia, Midface retrusion, Muscular hypotonia, Oligohydramnios, Osteopenia, Pectus excavatum, Platyspondyly, Postnatal growth retardation, Proptosis, Recurrent fractures, Scoliosis, Short stature, Skeletal dysplasia, Thin ribs, Triangular face, Turricephaly, Wormian bones
tRG	SMG1P4	0.48670154	0.000112962			
tRG	MT.ND6	0.250569037	0.000114541			
tRG	TLN1	0.590821716	0.000116253	Cytoskeletal associated protein	BrainSpLMD|7094;Eurexp|euxassay_011794|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	OMIM|186745
tRG	DRG1	0.6023997	0.000117395	Unclassified	BrainSpLMD|4733;Eurexp|euxassay_019652|adrenal gland, dorsal root ganglion, liver, metanephros, testis, thymus primordium, ventricular layer, vibrissa;BrainSpMouseDev|13273	OMIM|603952
tRG	GATAD2A	0.537713614	0.00011753	Transcription regulatory protein	BrainSpLMD|54815;BrainSpMouseDev|87820	OMIM|614997
tRG	CLCN3	0.512074656	0.000118243	Voltage gated channel	BrainSpLMD|1182;Eurexp|euxassay_012819|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn, ventricular layer	OMIM|600580
tRG	RGPD5	0.918946344	0.000119859	Transport/cargo protein		OMIM|612708
tRG	CCT6A	0.343224724	0.000119955	Chaperone	BrainSpLMD|908	OMIM|104613
tRG	PPP4R2	0.411423941	0.000121042	Serine/threonine phosphatase	BrainSpLMD|151987	OMIM|613822
tRG	BLVRA	0.937492462	0.000124385	Enzyme: Oxidoreductase	BrainSpLMD|644	OMIM|109750;HPO|644|Autosomal dominant inheritance, Autosomal recessive inheritance, Cholelithiasis, Cholestasis, Decreased liver function
tRG	TCF7L1	0.77520974	0.000127169	Transcription regulatory protein	BrainSpLMD|83439;BrainSpMouseDev|21176	OMIM|604652
tRG	CBWD3	0.331837832	0.000127792		BrainSpLMD|445571	OMIM|611080
tRG	TMED5	0.577616064	0.00013023	Unclassified	BrainSpLMD|50999	OMIM|616876
tRG	SALL2	0.919935961	0.000130593	Transcription factor	BrainSpLMD|6297;BrainSpMouseDev|30014	OMIM|602219;HPO|6297|Autosomal recessive inheritance, Coloboma, Reduced visual acuity, Visual impairment
tRG	SLC44A2	0.543794222	0.000132436	Integral membrane protein	BrainSpLMD|57153	OMIM|606106
tRG	RNF216	0.494517258	0.000134224	Ubiquitin proteasome system protein	BrainSpLMD|54476	OMIM|609948;HPO|54476|Abnormal electroretinogram, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the hypothalamus-pituitary axis, Abnormality of the skeletal system, Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Chorioretinal dystrophy, Decreased fertility, Dementia, Dysarthria, Gynecomastia, Hemiplegia/hemiparesis, Hypogonadotrophic hypogonadism, Infertility, Muscular hypotonia, Neurological speech impairment, Nystagmus, Optic atrophy
tRG	RIN2	0.315284346	0.0001364	Guanine nucleotide exchange factor	BrainSpLMD|54453	OMIM|610222;HPO|54453|Abnormality of the sternum, Alopecia, Autosomal recessive inheritance, Bruising susceptibility, Coarse facial features, Cognitive impairment, Cutis laxa, Decreased body weight, Downslanted palpebral fissures, Eclabion, Gingival overgrowth, High palate, High pitched voice, Hirsutism, Hyperextensible skin, Infra-orbital fold, Irregular dentition, Joint hypermobility, Long philtrum, Muscular hypotonia, Palpebral edema, Pes planus, Prolonged bleeding time, Redundant skin, Scoliosis, Short stature, Sparse and thin eyebrow, Sparse hair, Sparse scalp hair, Thick lower lip vermilion, Umbilical hernia, Upper eyelid edema
tRG	NUDT4	0.375457601	0.000137337	Unclassified	BrainSpLMD|11163	OMIM|609229
tRG	METTL15	0.465610934	0.000140937	Enzyme: Methyltransferase	BrainSpLMD|196074	
tRG	RAB6A	0.378756378	0.000141837	GTPase	BrainSpLMD|5870;Eurexp|euxassay_012532|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, molar, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|179513
tRG	RPP14	0.282949011	0.000144207	Ribonuclease	BrainSpLMD|11102	OMIM|606112
tRG	TWISTNB	0.43102745	0.000144794	Transcription factor	BrainSpLMD|221830	OMIM|608312
tRG	GPR75.ASB3	0.453246685	0.000154502			
tRG	C21orf33	0.586413971	0.000155344	Unclassified	BrainSpLMD|8209;Eurexp|euxassay_005073|thymus primordium, trigeminal V, ventricular layer	OMIM|601659
tRG	DNAJC19	0.622259861	0.000157927	Enzyme: Translocase	BrainSpLMD|131118	SFARI||Autism, 5 - Hypothesized but untested;OMIM|608977;HPO|131118|3-Methylglutaric aciduria, Autosomal recessive inheritance, Congestive heart failure, Cryptorchidism, Decreased testicular size, Dilated cardiomyopathy, Glutaric aciduria, Hypospadias, Intellectual disability, Intrauterine growth retardation, Microvesicular hepatic steatosis, Muscle weakness, Noncompaction cardiomyopathy, Nonprogressive cerebellar ataxia, Normochromic microcytic anemia, Optic atrophy, Postnatal growth retardation, Prolonged QT interval, Sudden cardiac death
tRG	CPSF7	0.396821414	0.000159189	Unclassified	BrainSpLMD|79869;Eurexp|euxassay_007331|embryo	
tRG	TRAPPC1	0.349365152	0.000159291	Transport/cargo protein	BrainSpLMD|58485	OMIM|610969
tRG	TCEAL1	0.594523274	0.000164191	Transcription regulatory protein	BrainSpLMD|9338;Eurexp|euxassay_006652|skeletal muscle	OMIM|300237
tRG	HSD17B7P2	0.340376623	0.000165359		BrainSpLMD|158160	
tRG	ARHGAP12	0.536575487	0.000166916	GTPase activating protein	BrainSpLMD|94134;Eurexp|euxassay_008610|axial skeleton, basioccipital bone, basisphenoid bone, bladder, brain, dorsal root ganglion, facial VII, femur, glossopharyngeal IX, midgut, neural retina, olfactory, pelvic girdle, spinal cord, stomach, trigeminal V, vestibulocochlear VIII	OMIM|610577
tRG	SGSM2	0.723718795	0.000167786	Unclassified	BrainSpLMD|9905	OMIM|611418
tRG	FOXRED2	0.342366871	0.00017141	Enzyme: Oxidoreductase	BrainSpLMD|80020	OMIM|613777
tRG	PSENEN	0.615373545	0.000171548	Integral membrane protein	BrainSpMouseDev|42183	OMIM|607632;HPO|55851|Acne inversa, Autosomal dominant inheritance, Chronic furunculosis, Perifolliculitis, Recurrent cutaneous abscess formation
tRG	DPF2	0.457197498	0.000180453	DNA binding protein	BrainSpLMD|5977;BrainSpMouseDev|19471	OMIM|601671
tRG	KNTC1	0.339474037	0.000185366	Cell cycle control protein	BrainSpLMD|9735;Eurexp|euxassay_011295|ventricular layer	OMIM|607363
tRG	B3GALNT2	0.715960728	0.000186932	Enzyme: Transferase	BrainSpLMD|148789;Eurexp|euxassay_015892|submandibular gland primordium	OMIM|610194;HPO|148789|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Abnormality of the voice, Absent septum pellucidum, Agenesis of corpus callosum, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Autosomal recessive inheritance, Blindness, Cataract, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Chorioretinal dysplasia, Cognitive impairment, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, EEG abnormality, EMG abnormality, Elevated serum creatine phosphokinase, Gait disturbance, Glaucoma, Global developmental delay, Hydrocephalus, Hypertonia, Hypoplasia of penis, Hypoplasia of the pons, Hyporeflexia, Intellectual disability, Lissencephaly, Macrocephaly, Macrogyria, Metatarsus valgus, Microphthalmia, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Myopathy, Myopia, Neurological speech impairment, Optic atrophy, Optic nerve hypoplasia, Pachygyria, Polymicrogyria, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Seizures, Severe muscular hypotonia, Skeletal muscle atrophy, Specific learning disability, Strabismus, Type II lissencephaly, Visual impairment
tRG	SCAF4	0.526793381	0.000187707	Transcription regulatory protein	BrainSpLMD|57466	OMIM|616023
tRG	SEC23A	0.721507779	0.000192674	Transport/cargo protein	BrainSpLMD|10484;Eurexp|euxassay_010377|clavicle, mandible, maxilla, orbito-sphenoid, rib, turbinate bones	OMIM|610511;HPO|10484|Anteverted nares, Autosomal recessive inheritance, Brittle hair, Capillary hemangiomas, Carious teeth, Coarse hair, Cryptorchidism, Decreased skull ossification, Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Forehead hyperpigmentation, Frontal bossing, High iliac wings, Hyperpigmentation of the skin, Hypertelorism, Hypoplasia of teeth, Hypoplasia of the maxilla, Joint laxity, Large fontanelles, Long philtrum, Macrocephaly, Malar flattening, Microdontia, Midface retrusion, Narrow chest, Narrow iliac wings, Pes planus, Posterior Y-sutural cataract, Posterior wedging of vertebral bodies, Premature loss of teeth, Prominent nasal bridge, Prominent supraorbital ridges, Punctate cataract, Scoliosis, Short stature, Skeletal dysplasia, Smooth philtrum, Sparse hair, Sutural cataract, Thin upper lip vermilion, Thin vermilion border, Wide anterior fontanel, Wide mouth, Wide nasal bridge, Wide nose
tRG	SPRED2	0.616553273	0.00019466	Unclassified	BrainSpLMD|200734	OMIM|609292
tRG	CAMTA1	0.410009311	0.000195613	Unclassified	BrainSpLMD|23261;BrainSpMouseDev|64242	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611501;COSMIC||epithelioid haemangioendothelioma;HPO|23261|Anteverted nares, Autosomal dominant inheritance, Bulbous nose, Cerebral cortical atrophy, Delayed speech and language development, Dysarthria, Dysmetria, Global developmental delay, Intellectual disability, mild, Long face, Long philtrum, Neonatal hypotonia, Pointed chin, Thick lower lip vermilion, Unsteady gait
tRG	HSD17B12	0.588870244	0.000200699	Enzyme: Dehydrogenase	BrainSpLMD|51144	OMIM|609574
tRG	KIF18A	0.756030424	0.000201185	Motor protein	BrainSpLMD|81930	OMIM|611271
tRG	CHD1L	0.710043448	0.000204622	DNA binding protein	BrainSpLMD|9557	OMIM|613039
tRG	CASC4	0.517109869	0.000208895	Unclassified	BrainSpLMD|113201	SFARI||Autism, 4 - Minimal evidence
tRG	SMIM7	0.412557032	0.000211884	Unclassified	BrainSpLMD|79086	
tRG	STAU1	0.360538218	0.000212122	RNA binding protein;Transport/cargo protein	BrainSpLMD|6780	OMIM|601716
tRG	GAPDHP1	0.400928916	0.000213051			
tRG	PCBP1	0.388540417	0.000214062	RNA binding protein	BrainSpLMD|5093;Eurexp|euxassay_006545|embryo	OMIM|601209;COSMIC||CRC
tRG	SERPINH1	0.754177689	0.00021919	Heat shock protein	BrainSpLMD|871	OMIM|600943;HPO|871|Autosomal recessive inheritance, Blue sclerae, Broad ribs, Chronic lung disease, Dentinogenesis imperfecta, Generalized hypotonia, Generalized joint laxity, Genu valgum, High forehead, High pitched voice, Inguinal hernia, Joint laxity, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Narrow chest, Narrow forehead, Nephrolithiasis, Osteopenia, Platyspondyly, Prominent forehead, Pyloric stenosis, Relative macrocephaly, Scoliosis, Shallow orbits, Short stature, Thin ribs, Triangular face, Vertebral compression fractures
tRG	CLINT1	0.399938267	0.000220452	Transport/cargo protein	BrainSpLMD|9685;Eurexp|euxassay_011314|basioccipital bone, basisphenoid bone, clavicle, cortex, cricoid, liver, mandible, maxilla, midgut, naris, orbito-sphenoid, otic capsule, petrous part, rectum, rib, sternum, sublingual gland primordium, submandibular gland primordium, temporal bone, thyroid, turbinate bones, valve, vault of skull	OMIM|607265
tRG	C12orf10	0.645424914	0.000221111	Unclassified	BrainSpLMD|60314	OMIM|611366
tRG	CTD.2544H17.1	0.554416871	0.000223634			
tRG	MRPS7	0.448146294	0.000229185	Ribosomal subunit	BrainSpLMD|51081	OMIM|611974
tRG	ANKFY1	0.344438286	0.000235344	Transport/cargo protein	BrainSpLMD|51479	OMIM|607927
tRG	ING5	0.425599205	0.000238522	Transcription regulatory protein	BrainSpLMD|84289	OMIM|608525
tRG	CPNE3	0.317557528	0.000244396	Transport/cargo protein	BrainSpLMD|8895	OMIM|604207
tRG	CASP6	0.819856915	0.000251227	Cysteine protease	BrainSpLMD|839;Eurexp|euxassay_004793|adenohypophysis, bladder, heart, incisor, inner ear, intraventricular portion, lung, mantle layer, metanephros, midgut, naris, olfactory, pancreas, pharyngo-tympanic tube, respiratory, stomach, testis, thymus primordium, urethra, ventricular layer, vibrissa	OMIM|601532
tRG	KIF1A	0.721169368	0.000252532	Motor protein	BrainSpLMD|547;Eurexp|euxassay_016778|alar plate, basal plate, cerebellum, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601255;HPO|547|Abnormal cortical bone morphology, Abnormality of epiphysis morphology, Abnormality of eye movement, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of the ankles, Abnormality of the eye, Abnormality of the hip bone, Abnormality of the knee, Abnormality of the palate, Abnormality of upper lip, Acral ulceration leading to autoamputation of digits, Anhidrosis, Ankle clonus, Anteverted nares, Areflexia, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Biparietal narrowing, Cerebellar atrophy, Cerebral cortical atrophy, Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Decreased taste sensation, Drowsiness, Dysmetria, Dystrophic fingernails, Dystrophic toenail, Edema of the lower limbs, Epicanthus, Episodic hyperhidrosis, External ear malformation, Feeding difficulties, Feeding difficulties in infancy, Foot acroosteolysis, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hydrocephalus, Hyperhidrosis, Hyperlordosis, Hyperreflexia, Hyporeflexia, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, severe, Limitation of joint mobility, Lower limb amyotrophy, Lower limb muscle weakness, Lower limb spasticity, Macrotia, Malar flattening, Microcephaly, Midface retrusion, Open mouth, Optic atrophy, Osteolytic defects of the phalanges of the hand, Painless fractures due to injury, Palpebral edema, Paronychia, Peripheral axonal neuropathy, Peripheral edema, Peripheral neuropathy, Porencephalic cyst, Progressive, Recurrent respiratory infections, Reduced bone mineral density, Severe muscular hypotonia, Short nose, Skeletal muscle atrophy, Slow progression, Spastic gait, Spastic paraplegia, Tapered finger, Urinary bladder sphincter dysfunction, Variable expressivity, Ventriculomegaly, Visual loss, Wormian bones
tRG	AFF4	0.439703865	0.000258666	Transcription factor	BrainSpLMD|27125	SFARI||Autism, 6 - Evidence does not support role;OMIM|604417;COSMIC||ALL;HPO|27125|Abnormality of the cardiac septa, Aspiration pneumonia, Autosomal dominant inheritance, Brachydactyly, Chronic lung disease, Coarse facial features, Congenital onset, Cryptorchidism, Downturned corners of mouth, Gastroesophageal reflux, Global developmental delay, Hypertelorism, Intellectual disability, Laryngomalacia, Long eyelashes, Obesity, Patent ductus arteriosus, Proptosis, Round face, Short nose, Short stature, Thick eyebrow, Thick hair, Tracheal stenosis, Vesicoureteral reflux
tRG	JAK1	0.372418639	0.000267925	Tyrosine kinase	BrainSpLMD|3716;Eurexp|euxassay_003142|basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mantle layer, thymus primordium, trigeminal V, vagus X, ventral grey horn	OMIM|147795;COSMIC||ALL
tRG	UBE2A	0.304610716	0.000269859	Ubiquitin proteasome system protein	BrainSpLMD|7319;Eurexp|euxassay_018835|hypothalamus, mantle layer	OMIM|312180;HPO|7319|Abnormal hair whorl, Aggressive behavior, Almond-shaped palpebral fissure, Broad face, Broad hallux, Broad neck, Deeply set eye, Depressed nasal bridge, Downturned corners of mouth, Dry skin, Echolalia, Hirsutism, Hypointensity of cerebral white matter on MRI, Increased body weight, Intellectual disability, Low posterior hairline, Macrocephaly, Malar flattening, Micropenis, Midface retrusion, Nail dysplasia, Nail dystrophy, Pes planus, Poor speech, Prominent supraorbital ridges, Regional abnormality of skin, Seizures, Short foot, Short neck, Synophrys, Thin vermilion border, Upslanted palpebral fissure, Wide intermamillary distance, Wide mouth, X-linked recessive inheritance
tRG	ZNFX1	0.390723718	0.000271754	Transcription regulatory protein	BrainSpLMD|57169	
tRG	CTC.308K20.3	0.282286682	0.000277755			
tRG	SHC3	0.418820056	0.00027969	Adapter molecule	BrainSpLMD|53358;Eurexp|euxassay_009466|cochlear duct, ventral grey horn, ventricular layer	OMIM|605263
tRG	BMP2K	0.35214563	0.000287869	Serine/threonine kinase	BrainSpLMD|55589	OMIM|617648
tRG	NDRG2	0.352992856	0.00029355	Enzyme: Hydrolase	BrainSpLMD|57447;Eurexp|euxassay_018237|anterior, choroid plexus, cricoid, dorsal root ganglion, facial VII, femur, glossopharyngeal IX, humerus, mantle layer, naris, nasal septum, otic capsule, phalanx, rectum, rib, sternum, thyroid, trigeminal V, turbinate bones, vagus X, ventricle, ventricular layer, vestibulocochlear VIII	OMIM|605272
tRG	CHMP2B	0.493908864	0.000295027	Transport/cargo protein	BrainSpLMD|25978;Eurexp|euxassay_017077|dorsal grey horn, intermediate grey horn, mantle layer, ventral grey horn, ventricular layer, vibrissa	OMIM|609512;HPO|25978|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Adult onset, Aggressive behavior, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apathy, Apraxia, Areflexia, Astrocytosis, Autosomal dominant inheritance, Babinski sign, Bulbar signs, Cerebral cortical atrophy, Collectionism, Depressivity, Disinhibition, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphagia, Dysphasia, Dyspnea, Dystonia, EEG with continuous slow activity, Echolalia, Emotional blunting, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontal release signs, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait disturbance, Generalized muscle weakness, Grammar-specific speech disorder, Hyperorality, Hyperreflexia, Hyporeflexia, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Muscle cramps, Mutism, Myoclonus, Neurodegeneration, Neuronal loss in central nervous system, Orofacial dyskinesia, Pain, Paralysis, Perseveration, Personality changes, Poor speech, Rapidly progressive, Respiratory failure, Respiratory insufficiency due to muscle weakness, Restlessness, Restrictive behavior, Rigidity, Skeletal muscle atrophy, Spasticity, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold, Urinary incontinence, Xerostomia
tRG	GCFC2	0.819005335	0.000302379	Transcription factor	BrainSpLMD|6936	OMIM|189901
tRG	METTL5	0.788014869	0.000303122	Unclassified	BrainSpLMD|29081	
tRG	U2AF2	0.468116846	0.000304012	RNA binding protein	BrainSpLMD|11338;Eurexp|euxassay_003614|bladder, hindgut, left, midgut, naris, oesophagus, olfactory, rectum, respiratory, right, stomach, submandibular gland primordium, thymus primordium, thyroid, urethra, vibrissa	OMIM|191318
tRG	RNF168	0.310788412	0.000304721	Transcription regulatory protein	BrainSpLMD|165918	OMIM|612688;HPO|165918|Abnormal facial shape, Ataxia, Autosomal recessive inheritance, Dry skin, IgG deficiency, Immunodeficiency, Increased sensitivity to ionizing radiation, Mild global developmental delay, Short stature
tRG	STIP1	0.472505855	0.000307952	Adapter molecule	BrainSpLMD|10963	OMIM|605063
tRG	TAF7	0.361944532	0.000309228	Transcription factor	BrainSpLMD|6879;Eurexp|euxassay_005528|testis;BrainSpMouseDev|23825	OMIM|600573
tRG	TET1	0.319640106	0.000309341	DNA binding protein	BrainSpLMD|80312;Eurexp|euxassay_012372|primitive seminiferous tubules	OMIM|607790;COSMIC||AML
tRG	SNX17	0.97547426	0.000313702	Adapter molecule	BrainSpLMD|9784	OMIM|605963
tRG	SRSF1	0.724894338	0.000315925	RNA binding protein	BrainSpLMD|6426	OMIM|600812
tRG	SAMD4B	0.468311537	0.000317744	Unclassified	BrainSpLMD|55095	
tRG	LARP4	0.289872484	0.000319077	RNA binding protein	BrainSpLMD|113251	
tRG	CTNNAL1	0.604960446	0.000320807	Unclassified	BrainSpLMD|8727	OMIM|604785
tRG	RABGGTB	0.800175711	0.000322834	Enzyme: Prenyltransferase	BrainSpLMD|5876	OMIM|179080
tRG	SLC20A1	0.306782916	0.000325378	Membrane transport protein	BrainSpLMD|6574;Eurexp|euxassay_009182|brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, liver, marginal layer, metanephros, midgut, primitive seminiferous tubules, spinal cord, submandibular gland primordium, thoracic, trigeminal V, vagus X	OMIM|137570
tRG	RNU1.27P	0.581456587	0.000325864			
tRG	ARMCX4	0.379331371	0.000343405			
tRG	WDR54	0.788819657	0.000352802	Unclassified	BrainSpLMD|84058;Eurexp|euxassay_007433|embryo	
tRG	EPB41L4A	0.731985689	0.000364804	Structural protein	BrainSpLMD|64097;Eurexp|euxassay_010576|anterior, basal columns, cervical, cervico-thoracic, choroid invagination, choroid plexus, dorsal root ganglion, ear, facial VII, glossopharyngeal IX, incisor, lens, mantle layer, marginal layer, midgut, molar, neural retina, olfactory, rectum, rest of skin, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|612141
tRG	SGPL1	0.372148388	0.000367049	Enzyme: Lyase	BrainSpLMD|8879;Eurexp|euxassay_009987|mantle layer, mesenchyme, metanephros, olfactory, renal/urinary system, thymus primordium	OMIM|603729
tRG	DNAJB5	0.492325286	0.000369651	Heat shock protein	BrainSpLMD|25822;Eurexp|euxassay_014885|accessory XI, alar plate, basal plate, brachial plexus, brain, central nervous system, cerebellum, cerebral cortex, cervico-thoracic, cranial, diencephalon, dorsal root ganglion, facial VII, forebrain, ganglion, glossopharyngeal IX, heart, hindbrain, hypogastric plexus, hypoglossal XII, hypothalamus, inferior, intrinsic, lateral wall, lumbo-sacral plexus, lung, marginal layer, maxillary division, metanephros, midbrain, nerve, nerve plexus, nerve trunk, neural retina, olfactory, parasympathetic, pectoral girdle and thoracic body wall, pelvic girdle, rest of alar plate, retina, skeletal muscle, spinal cord, telencephalon, thalamus, tongue, trigeminal V, vagal X nerve trunk, vagus X, vestibulocochlear VIII, vibrissa	OMIM|611328
tRG	ARPP19	0.258753667	0.000378736	Unclassified	BrainSpLMD|10776	OMIM|605487
tRG	SMN1	0.312738895	0.000379546	RNA binding protein		OMIM|600354;HPO|6606|Adult onset, Areflexia, Areflexia of lower limbs, Atrial septal defect, Autosomal recessive inheritance, Decreased fetal movement, Degeneration of anterior horn cells, EMG abnormality, EMG: neuropathic changes, Hand tremor, Hyporeflexia, Limb fasciculations, Muscle cramps, Muscle weakness, Progressive, Proximal amyotrophy, Proximal muscle weakness, Proximal muscle weakness in lower limbs, Recurrent respiratory infections, Respiratory failure, Slow progression, Spinal muscular atrophy, Tongue fasciculations, Ventricular septal defect
tRG	GNA12	0.512429675	0.000396027	G protein	BrainSpLMD|2768	OMIM|604394
tRG	BBS4	0.464318684	0.000420134	Unclassified	BrainSpLMD|585	SFARI||Autism, No category;OMIM|600374;HPO|585|Abnormal electroretinogram, Asthma, Ataxia, Autosomal recessive inheritance, Biliary tract abnormality, Brachydactyly, Broad foot, Congenital primary aphakia, Cryptorchidism, Decreased testicular size, Delayed speech and language development, Dental crowding, Diabetes mellitus, External genital hypoplasia, Foot polydactyly, Gait imbalance, Global developmental delay, Hepatic fibrosis, High, narrow palate, Hirsutism, Hypertension, Hypodontia, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Left ventricular hypertrophy, Multicystic kidney dysplasia, Nephrogenic diabetes insipidus, Neurological speech impairment, Nyctalopia, Nystagmus, Obesity, Pigmentary retinopathy, Polydactyly, Poor coordination, Postaxial hand polydactyly, Radial deviation of finger, Renal cyst, Retinal degeneration, Rod-cone dystrophy, Short foot, Short stature, Specific learning disability, Strabismus, Syndactyly
tRG	MRPS18B	0.531121311	0.000421241	Ribosomal subunit	BrainSpLMD|28973	OMIM|611982
tRG	C12orf29	0.336417328	0.000421387	Unclassified	BrainSpLMD|91298;Eurexp|euxassay_003260|basal plate, cochlear component, dorsal root ganglion, facial VII, inferior, left, lobe, right, superior, thymus primordium, trigeminal V, ventricular layer, vestibular component	
tRG	APRT	0.410528423	0.000425936	Enzyme: Ribosyltransferase	BrainSpLMD|353;Eurexp|euxassay_001689|Meckel's cartilage, axial muscle, olfactory, orbito-sphenoid, vault of skull	OMIM|102600;HPO|353|Autosomal recessive inheritance, Hematuria, Nephrolithiasis, Renal insufficiency
tRG	ZC3HAV1	0.741034998	0.000426584	-	BrainSpLMD|56829;Eurexp|euxassay_012472|lobe, thymus primordium	OMIM|607312
tRG	NRD1	0.251851557	0.000432121			
tRG	FAM63B	0.327279129	0.000433351			
tRG	MTHFD1	0.271009574	0.000434267	Enzyme: Dehydrogenase	BrainSpLMD|4522;Eurexp|euxassay_004845|axial muscle, fundus, incisor, left, left lung, lumen, molar, oesophagus, pancreas, right, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|172460
tRG	OAZ1	0.267490438	0.000442675	Unclassified	BrainSpLMD|4946	OMIM|601579
tRG	TMEM131	0.279202072	0.000446429	Unclassified	Eurexp|euxassay_015895|thymus primordium	OMIM|615659
tRG	APEX1	0.360663112	0.000447493	DNA repair protein	BrainSpLMD|328;Eurexp|euxassay_005116|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, hindgut, incisor, liver, lung, mandible, metanephros, midgut, molar, naris, naso-lacrimal duct, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, rectum, respiratory, retina, spinal cord, sternum, stomach, submandibular gland primordium, testis, thoracic, thymus primordium, thyroid, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|107748
tRG	RSL24D1	0.508095321	0.000464629	Unclassified	BrainSpLMD|51187	OMIM|613262
tRG	OTUD7B	0.555320258	0.000472845	Ubiquitin proteasome system protein	BrainSpLMD|56957	OMIM|611748
tRG	C12orf49	0.463100478	0.000477453	Unclassified	BrainSpLMD|79794;Eurexp|euxassay_006358|olfactory	
tRG	RGPD6	0.733867893	0.000490808	Unclassified		OMIM|612709
tRG	ITGAV	0.548853993	0.000494926	Cell surface receptor	BrainSpLMD|3685;Eurexp|euxassay_009584|brain, calyces, incisor, mandible, maxilla, mesenchyme, midgut, molar, spinal cord, stomach, submandibular gland primordium, ventricular layer;BrainSpMouseDev|16183	OMIM|193210;COSMIC||large intestine carcinoma
tRG	PPRC1	0.939782739	0.000496116	Transcription regulatory protein	BrainSpLMD|23082	OMIM|617462
tRG	SMG1P1	0.333009971	0.000502261			
tRG	TARS	0.448723247	0.000504797	Enzyme: Ligase	BrainSpLMD|6897;Eurexp|euxassay_006234|cortex, left, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|187790
tRG	LIMS1	0.606705353	0.000507017	Adapter molecule	BrainSpLMD|3987;Eurexp|euxassay_003410|4th ventricle, bladder, gut, heart, incisor, liver, liver and biliary system, lung, metanephros, molar, stomach, submandibular gland primordium, tongue, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|74984	OMIM|602567
tRG	SNX5	0.263234662	0.000514108	Transport/cargo protein	BrainSpLMD|27131;Eurexp|euxassay_011463|clavicle, cortex, epithelium, exoccipital bone, floor plate, fundus region, hindgut, incisor, lobe, lung, mandible, marginal layer, maxilla, midgut, molar, naris, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, roof, stomach, submandibular gland primordium, temporal bone, thymus primordium, thyroid, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|605937
tRG	DDOST	0.434611974	0.000516439	Enzyme: Galactosyltransferase	BrainSpLMD|1650	OMIM|602202;HPO|1650|Abnormality of the coagulation cascade, Accelerated skeletal maturation, Autosomal recessive inheritance, CNS hypomyelination, Constipation, Decreased liver function, Elevated hepatic transaminases, Esotropia, Failure to thrive, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Infantile onset, Neurodevelopmental delay, Neurological speech impairment, Oromotor apraxia, Osteopenia, Recurrent ear infections, Seizures, Short stature, Strabismus, Tremor, Type I transferrin isoform profile
tRG	FUT8	0.342642738	0.000518649	Enzyme: Fucosyltransferase	BrainSpLMD|2530	OMIM|602589
tRG	C21orf59	0.913551456	0.00052071	Unclassified	BrainSpLMD|56683;Eurexp|euxassay_006908|cerebral cortex, choroid invagination, choroid plexus, olfactory, roof plate	OMIM|615494;HPO|56683|Autosomal recessive inheritance, Bronchiectasis, Chronic bronchitis, Ciliary dyskinesia, Infertility, Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Reduced sperm motility, Respiratory insufficiency due to defective ciliary clearance, Rhinitis, Sinusitis, Situs inversus totalis
tRG	TTYH3	0.482202292	0.000522753	Ion channel	BrainSpLMD|80727	OMIM|608919
tRG	CRIPT	0.398261622	0.000528498	Cytoskeletal associated protein	BrainSpLMD|9419;Eurexp|euxassay_003240|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|604594;HPO|9419|Anemia, Anisopoikilocytosis, Anteverted nares, Autosomal recessive inheritance, Brachydactyly, Depressed nasal bridge, Frontal bossing, High forehead, Profound global developmental delay, Proptosis, Recurrent infections, Short digit, Short distal phalanx of finger, Sparse and thin eyebrow, Spotty hypopigmentation, Talipes, Talipes equinovarus, Telecanthus
tRG	ZC3H12C	0.271147439	0.000539111	Unclassified		OMIM|615001
tRG	UBAC2	0.489408752	0.000540443	Unclassified	BrainSpLMD|337867	HPO|337867|Abdominal pain, Abnormal blistering of the skin, Acne, Arthralgia, Arthritis, Confusion, Fatigue, Fever, Gait disturbance, Gastrointestinal hemorrhage, Hemiparesis, Immunologic hypersensitivity, Meningitis, Migraine, Myalgia, Nausea and vomiting, Oral ulcer, Orchitis, Papule, Photophobia, Recurrent aphthous stomatitis, Subcutaneous nodule, Vasculitis, Venous thrombosis
tRG	ZC3H14	0.506951055	0.000544438	RNA binding protein	BrainSpLMD|79882	OMIM|613279;HPO|79882|Autosomal recessive inheritance, Intellectual disability
tRG	RHBDD2	0.791530744	0.000545568	Integral membrane protein	BrainSpLMD|57414	OMIM|615203
tRG	EEF1A1P9	0.276577449	0.000548178			
tRG	PTP4A2	0.341484461	0.000549985	Tyrosine phosphatase	BrainSpLMD|8073;Eurexp|euxassay_007473|embryo	OMIM|601584
tRG	PDXK	0.766604316	0.000567565	Enzyme: Phosphotransferase	BrainSpLMD|8566;Eurexp|euxassay_018332|clavicle, cortex, hindgut, incisor, lobe, lung, mandible, maxilla, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, rectum, submandibular gland primordium, thymus primordium, thyroid, urethra, ventricular layer, vibrissa, vomeronasal organ	OMIM|179020
tRG	BAZ2A	0.38688936	0.000570571	Transcription regulatory protein	BrainSpLMD|11176	OMIM|605682
tRG	RP11.50D9.1	0.786837099	0.000571599			
tRG	TMEM126A	0.47487995	0.000595568	Unclassified	BrainSpLMD|84233	OMIM|612988;HPO|84233|Autosomal recessive inheritance, Central scotoma, Constriction of peripheral visual field, Dyschromatopsia, Optic atrophy, Optic disc pallor, Reduced visual acuity, Variable expressivity, Visual impairment
tRG	HTRA1	0.486824296	0.00059993	Serine protease	BrainSpLMD|5654;Eurexp|euxassay_005061|anterior abdominal wall, aorta, axial muscle, axial skeleton, choroid plexus, diaphragm, humerus, incisor, lung, mesenchyme, metatarsus, molar, nucleus pulposus, pancreas, pelvic girdle, pharyngo-tympanic tube, rest of mesenchyme, rest of mesencyme, roof plate, scapula, skeletal muscle, sternum, tongue, trachea, ventricular layer, vibrissa	OMIM|602194;HPO|5654|Abnormality of extrapyramidal motor function, Alopecia, Arteriosclerosis of small cerebral arteries, Ataxia, Autosomal recessive inheritance, Babinski sign, Dementia, Diffuse demyelination of the cerebral white matter, Diffuse white matter abnormalities, Dysarthria, Gait disturbance, Hyperreflexia, Leukoencephalopathy, Low back pain, Progressive encephalopathy, Pseudobulbar signs, Rigidity, Spasticity, Urinary incontinence
tRG	ACAD8	0.702215749	0.000610835	Enzyme: Dehydrogenase	BrainSpLMD|27034;Eurexp|euxassay_001604|choroid plexus, lateral recess	OMIM|604773;HPO|27034|Anemia, Autosomal recessive inheritance, Decreased plasma carnitine, Dilated cardiomyopathy, Muscular hypotonia
tRG	ROCK2	0.515647163	0.000621063	Serine/threonine kinase	BrainSpLMD|9475;BrainSpMouseDev|19641	OMIM|604002
tRG	CHKA	0.341336976	0.000622538	Lipid Kinase	BrainSpLMD|1119	OMIM|118491
tRG	C19orf48	1.061582299	0.000625107	Unclassified	BrainSpLMD|84798	
tRG	ZFP91	0.470424275	0.000632046	Transcription factor	BrainSpLMD|80829	
tRG	SERP1	0.31156469	0.000651045	Integral membrane protein	BrainSpLMD|27230;Eurexp|euxassay_002193|Meckel's cartilage, incisor, molar, orbito-sphenoid	OMIM|617674
tRG	FADS2	0.376574658	0.000664947	Enzyme: Oxidase	BrainSpLMD|9415	OMIM|606149
tRG	FNDC3B	0.685693815	0.000688516	Integral membrane protein	BrainSpLMD|64778	OMIM|611909
tRG	RPS6KB1	0.432534117	0.000692657	Serine/threonine kinase	BrainSpLMD|6198	OMIM|608938
tRG	HSCB	0.971433365	0.000698822	Chaperone	BrainSpLMD|150274	OMIM|608142
tRG	H3F3C	0.311978591	0.000710096	Unclassified		OMIM|616134
tRG	SNHG3	0.642616549	0.00071039			OMIM|603238
tRG	LRP1	0.598034816	0.000716865	Cell surface receptor	BrainSpLMD|4035;Eurexp|euxassay_011128|mesenchyme, ventricular layer;BrainSpMouseDev|16741	OMIM|107770;HPO|4035|Autosomal recessive inheritance
tRG	COA4	0.656856853	0.000719048	Unclassified	BrainSpLMD|51287	OMIM|608016
tRG	RTFDC1	0.292634656	0.000726944	Unclassified	BrainSpLMD|51507;Eurexp|euxassay_006308|embryo	
tRG	RBBP4P1	0.531559286	0.000728335			
tRG	SMEK2	0.685733556	0.000731533			
tRG	RANBP1	0.450754201	0.000737746	Transport/cargo protein		OMIM|601180
tRG	FLAD1	0.591324967	0.000759693	Unclassified	BrainSpLMD|80308	OMIM|610595;HPO|80308|Autosomal recessive inheritance, Dysphagia, Exercise intolerance, Fatty replacement of skeletal muscle, Feeding difficulties, Generalized hypotonia, Myopathy, Organic aciduria, Phenotypic variability, Proximal muscle weakness, Respiratory insufficiency
tRG	TRAF3IP2.AS1	0.259981585	0.000768309			
tRG	SERBP1	0.311802487	0.000782893	RNA binding protein	BrainSpLMD|26135	OMIM|607378
tRG	SEC22C	0.401711082	0.000791356	Integral membrane protein	BrainSpLMD|9117	OMIM|604028
tRG	CLCN6	0.779840042	0.00080114	Voltage gated channel	BrainSpLMD|1185;Eurexp|euxassay_008300|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602726
tRG	ZNF432	0.824006965	0.000813826	Transcription factor		
tRG	GINM1	1.159377917	0.000824049	Integral membrane protein	BrainSpLMD|116254	
tRG	RLF	0.562480115	0.000824815	Transcription factor	BrainSpLMD|6018	OMIM|180610
tRG	FAF2	0.30118353	0.000832194	Unclassified	BrainSpLMD|23197;Eurexp|euxassay_007868|embryo	OMIM|616935
tRG	MCM6	0.698156431	0.000847879	Cell cycle control protein	BrainSpLMD|4175	OMIM|601806;HPO|4175|Abdominal pain, Autosomal dominant inheritance, Autosomal recessive inheritance, Decreased small intestinal mucosa lactase activity, Diarrhea, Lactose intolerance
tRG	WASF3	0.616206343	0.000854155	Cytoskeletal associated protein	BrainSpLMD|10810;Eurexp|euxassay_003179|adrenal gland, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, spinal cord, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|605068
tRG	ALKBH2	0.50275458	0.000860391	DNA repair protein	BrainSpLMD|121642	OMIM|610602
tRG	CGGBP1	0.410055866	0.000869622	DNA binding protein	BrainSpLMD|8545	OMIM|603363
tRG	ATM	0.406638115	0.000875032	Serine/threonine kinase	BrainSpLMD|472	OMIM|607585;COSMIC||T-PLL, leukaemia, lymphoma, medulloblastoma, glioma;HPO|472|Abnormal spermatogenesis, Abnormality of bone marrow cell morphology, Abnormality of chromosome stability, Abnormality of the hair, Anorexia, Aplasia/Hypoplasia of the thymus, Ataxia, Autosomal recessive inheritance, B-cell lymphoma, Bronchiectasis, Cafe-au-lait spot, Cellular immunodeficiency, Choreoathetosis, Conjunctival telangiectasia, Decreased antibody level in blood, Decreased number of CD4+ T cells, Defective B cell differentiation, Delayed puberty, Diabetes mellitus, Dysarthria, Dystonia, Elevated alpha-fetoprotein, Elevated hepatic transaminases, Fatigue, Female hypogonadism, Fever, Gait disturbance, Glucose intolerance, Hodgkin lymphoma, Hypopigmentation of hair, Hypoplasia of the thymus, IgA deficiency, Immunoglobulin IgG2 deficiency, Leukemia, Lymphadenopathy, Lymphopenia, Mucosal telangiectasiae, Myoclonus, Neoplasm, Non-Hodgkin lymphoma, Nystagmus, Polycystic ovaries, Premature graying of hair, Recurrent bronchitis, Recurrent respiratory infections, Reduced tendon reflexes, Seizures, Short stature, Sinusitis, Skeletal muscle atrophy, Spasticity, Splenomegaly, Strabismus, Telangiectasia of the skin, Tremor, Weight loss
tRG	RP11.444D3.1	0.454895715	0.000890583			
tRG	LRRC41	0.503406643	0.000906803	Adapter molecule	BrainSpLMD|10489	
tRG	ZNF410	0.271289112	0.00090857	Transcription factor	BrainSpLMD|57862	
tRG	NAA38	0.327649323	0.000919908	Unclassified	BrainSpLMD|84316	
tRG	MOCS2	0.521843911	0.000939633	Enzyme: Synthase	BrainSpLMD|4338	OMIM|603708;HPO|4338|Autosomal recessive inheritance, Axonal loss, Cerebral atrophy, Ectopia lentis, Feeding difficulties, Frontal bossing, Full cheeks, Gliosis, Growth delay, Hypertelorism, Hypoplasia of the corpus callosum, Hypouricemia, Increased urinary hypoxanthine, Increased urinary taurine, Long face, Long philtrum, Macrocephaly, Microcephaly, Molybdenum cofactor deficiency, Myoclonic spasms, Nystagmus, Opisthotonus, Peripheral demyelination, Progressive, Short nose, Spastic tetraplegia, Thick vermilion border, Ventriculomegaly, Xanthine nephrolithiasis, Xanthinuria
tRG	TPST1	0.34651026	0.000940211	Enzyme: Sulphotransferase	BrainSpLMD|8460	OMIM|603125
tRG	NMD3	0.279544032	0.000952538	Unclassified	BrainSpLMD|51068	OMIM|611021
tRG	TIMM13	0.365452077	0.000953373	Transport/cargo protein	BrainSpLMD|26517	OMIM|607383
tRG	HDHD2	0.509068369	0.000958276	Enzyme: Hydrolase	BrainSpLMD|84064	
tRG	ARNT2	0.631350384	0.000994508	Transcription factor	BrainSpLMD|9915;Eurexp|euxassay_006289|brain, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, spinal cord, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|11651	SFARI||Autism, 4 - Minimal evidence;OMIM|606036;HPO|9915|Agenesis of corpus callosum, Anterior pituitary hypoplasia, Autosomal recessive inheritance, Cleft palate, Cryptorchidism, Deeply set eye, Delayed myelination, Diabetes insipidus, Gastroesophageal reflux, Global developmental delay, Growth hormone deficiency, Hemiplegia/hemiparesis, Hip dislocation, Hydronephrosis, Hypernatremia, Hypoplasia of penis, Hypoplasia of the corpus callosum, Microcephaly, Neurogenic bladder, Nystagmus, Pituitary hypothyroidism, Postnatal microcephaly, Prominent forehead, Retrognathia, Seizures, Septo-optic dysplasia, Short stature, Spasticity, Strabismus, Vesicoureteral reflux, Visual impairment
tRG	NPC1	0.662555068	0.000999689	Cell surface receptor	BrainSpLMD|4864	OMIM|607623;HPO|4864|Abnormal cholesterol homeostasis, Ataxia, Autosomal recessive inheritance, Bone-marrow foam cells, Cataplexy, Dementia, Dysarthria, Dysphagia, Dystonia, Fatal liver failure in infancy, Fetal ascites, Foam cells in visceral organs and CNS, Generalized hypotonia, Global developmental delay, Hepatomegaly, Heterogeneous, Intellectual disability, Loss of speech, Low cholesterol esterification rates, Neurofibrillary tangles, Neuronal loss in central nervous system, Onset, Phenotypic variability, Prolonged neonatal jaundice, Psychosis, Sea-blue histiocytosis, Seizures, Spasticity, Splenomegaly, Vertical supranuclear gaze palsy
tRG	NMT1	0.469802122	0.001004051	Enzyme: Acyltransferase;Unclassified	BrainSpLMD|4836	OMIM|160993
tRG	GNL1	0.379715106	0.00102049	Unclassified	BrainSpLMD|2794	OMIM|143024
tRG	CIPC	0.402641756	0.001039667	Unclassified	BrainSpLMD|85457	OMIM|616995
tRG	G3BP1	0.343498181	0.001051512	RNA binding protein;Ribonuclease	BrainSpLMD|10146	OMIM|608431
tRG	PSMB6	0.252086689	0.001058378	Ubiquitin proteasome system protein	BrainSpLMD|5694	OMIM|600307
tRG	CCDC186	0.453494486	0.001058587	Unclassified	BrainSpLMD|55088	
tRG	TMEM184B	1.029363495	0.001067927	Unclassified	BrainSpLMD|25829	
tRG	TWF1	0.316971913	0.001075345	Tyrosine kinase	BrainSpLMD|5756;Eurexp|euxassay_018637|olfactory	OMIM|610932
tRG	PXYLP1	0.57904892	0.001081021	Enzyme: Acid phosphatase	BrainSpLMD|92370;Eurexp|euxassay_002477|Meckel's cartilage, brain, molar, nucleus pulposus, olfactory, orbito-sphenoid, pectoral girdle and thoracic body wall, rib, spinal cord	
tRG	ACTN4	1.002489673	0.001087065	Cytoskeletal protein	BrainSpLMD|81	SFARI||Autism, No category;OMIM|604638;HPO|81|Anemia, Autosomal dominant inheritance, Edema, Focal segmental glomerulosclerosis, Hyperlipidemia, Hypertension, Hypoalbuminemia, Incomplete penetrance, Proteinuria, Slow progression, Variable expressivity
tRG	CXorf56	0.738296896	0.001088334	Unclassified		
tRG	ZNF559	0.75461672	0.00108984	DNA binding protein	BrainSpLMD|84527	SFARI||Autism, 4 - Minimal evidence
tRG	TOPORS	0.286935253	0.001107785	Ubiquitin proteasome system protein	BrainSpLMD|10210	OMIM|609507;HPO|10210|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Attenuation of retinal blood vessels, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Retinal pigment epithelial atrophy, Rod-cone dystrophy, Sensorineural hearing impairment, Visual field defect, Wide nasal bridge
tRG	HSPA4L	0.723251324	0.001129679	Heat shock protein	BrainSpLMD|22824;Eurexp|euxassay_006441|cervico-thoracic, diencephalon, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, hindbrain, left, mantle layer, mesenchyme, midbrain, midgut, neural retina, olfactory, pituitary, posterior, right, skeletal muscle, spinal cord, thoracic, thymus primordium, trachea, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	
tRG	TTC3P1	0.629169791	0.001155823			
tRG	EMX2	0.36947606	0.001167216	Transcription factor	BrainSpLMD|2018;Eurexp|euxassay_019479|eyelid, lip, mantle layer, metanephros, olfactory, paramesonephric duct, phalanx, saccule, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|13575	OMIM|600035;HPO|2018|Schizencephaly
tRG	DEGS1	0.805357021	0.001188903	Enzyme: Oxidoreductase	BrainSpLMD|8560;Eurexp|euxassay_002879|dorsal root ganglion, pancreas, ventral grey horn	OMIM|615843
tRG	IQGAP1	0.331781549	0.001195552	GTPase activating protein	BrainSpLMD|8826;Eurexp|euxassay_010153|choroid plexus, epithelium, hindgut, lung, mandible, metanephros, midgut, oral epithelium, orbito-sphenoid, vibrissa	OMIM|603379
tRG	PRKAG2	0.253811463	0.001207199	Serine/threonine kinase	BrainSpLMD|51422	OMIM|602743;HPO|51422|Ascites, Asymmetric septal hypertrophy, Atrial fibrillation, Atrioventricular block, Autosomal dominant inheritance, Autosomal recessive inheritance, Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Congestive heart failure, Cyanosis, Heterogeneous, Hypertrophic cardiomyopathy, Hypotension, Left bundle branch block, Neonatal hypoglycemia, Palpitations, Paroxysmal atrial fibrillation, Paroxysmal supraventricular tachycardia, Prolonged QRS complex, Pulmonary edema, Shortened PR interval, Sinus bradycardia, Stroke, Sudden cardiac death, Ventricular preexcitation, Ventricular preexcitation with multiple accessory pathways, Wolff-Parkinson-White syndrome
tRG	ARL17A	0.368031783	0.001215389	-	BrainSpLMD|51326	
tRG	COA3	0.382747617	0.001220398	Unclassified	BrainSpLMD|28958	OMIM|614775
tRG	CHMP1B	0.251187704	0.00122127	Transport/cargo protein	BrainSpLMD|57132	OMIM|606486
tRG	NSD1	0.342891008	0.001241219	Transcription factor	BrainSpLMD|64324;BrainSpMouseDev|17960	SFARI||Autism, No category;OMIM|606681;COSMIC||AML, Sotos Syndrome;HPO|64324|Abnormal glucose tolerance, Abnormality of immune system physiology, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Accelerated skeletal maturation, Adrenocortical carcinoma, Adrenocortical cytomegaly, Advanced eruption of teeth, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Atrial septal defect, Autosomal dominant inheritance, Behavioral abnormality, Broad foot, Broad forehead, Broad thumb, Camptodactyly of finger, Cardiomegaly, Cardiomyopathy, Cavum septum pellucidum, Coarse facial features, Conductive hearing impairment, Cryptorchidism, Dandy-Walker malformation, Deep philtrum, Deep-set nails, Delayed skeletal maturation, Depressed nasal ridge, Diastasis recti, Dolichocephaly, Downslanted palpebral fissures, Enlarged cisterna magna, Enlarged kidney, Expressive language delay, Feeding difficulties in infancy, Fine hair, Frontal bossing, Genu valgum, Global developmental delay, Gonadoblastoma, Hemihypertrophy, Hepatoblastoma, Hepatomegaly, High anterior hairline, High forehead, High palate, High, narrow palate, Hoarse voice, Hypermetropia, Hyperreflexia, Hypertelorism, Hypoglycemia, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Joint laxity, Joint stiffness, Large fontanelles, Large hands, Long foot, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Macrotia, Mandibular prognathia, Microcephaly, Micrognathia, Midface retrusion, Muscular hypotonia, Myopia, Narrow palate, Neonatal hypoglycemia, Neonatal hypotonia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Nystagmus, Obesity, Omphalocele, Otitis media, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Pes planus, Pointed chin, Poor coordination, Posterior helix pit, Precocious puberty, Prominent forehead, Prominent metopic ridge, Prominent occiput, Proptosis, Redundant skin, Renal cortical cysts, Retrognathia, Round face, Scoliosis, Seizures, Short stature, Small nail, Spasticity, Specific learning disability, Sporadic, Strabismus, Tall stature, Thin nail, Ventricular septal defect, Ventriculomegaly, Vesicoureteral reflux
tRG	SYPL1	0.538792691	0.001249762	Integral membrane protein	BrainSpLMD|6856;Eurexp|euxassay_005903|embryo	OMIM|616665
tRG	ORC3	0.437683963	0.001271641	DNA binding protein	BrainSpLMD|23595	OMIM|604972
tRG	FLRT3	0.389808171	0.001303194	Adhesion molecule	BrainSpLMD|23767;Eurexp|euxassay_006295|axial skeleton, bladder, eyelid, incisor, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, molar, pharyngo-tympanic tube, physiological umbilical hernia, pituitary, submandibular gland primordium, ventricular layer, vibrissa	OMIM|604808;HPO|23767|Abnormality of the voice, Anosmia, Anterior hypopituitarism, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Delayed puberty, Erectile abnormalities, Gynecomastia, Hypogonadotrophic hypogonadism, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Primary amenorrhea, Reduced bone mineral density, Sparse axillary hair, Sparse pubic hair
tRG	RINT1	0.840694322	0.001334945	Cell cycle control protein	BrainSpLMD|60561	OMIM|610089
tRG	HADHB	0.607023694	0.001340751	Enzyme: Dehydrogenase	BrainSpLMD|3032	OMIM|143450;HPO|3032|Abnormality of the amniotic fluid, Autosomal recessive inheritance, Congestive heart failure, Dilated cardiomyopathy, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Generalized muscle weakness, Global developmental delay, Hydrops fetalis, Hyperammonemia, Hypoketotic hypoglycemia, Lactic acidosis, Myalgia, Myoglobinuria, Peripheral neuropathy, Prenatal maternal abnormality, Respiratory failure, Rhabdomyolysis, Small for gestational age
tRG	PSME4	0.270955327	0.001364627	Ubiquitin proteasome system protein	BrainSpLMD|23198;Eurexp|euxassay_009612|dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, maxilla, neural retina, olfactory, orbito-sphenoid, submandibular gland primordium, trigeminal V	OMIM|607705
tRG	SAMD8	0.355775034	0.001373742	Integral membrane protein	BrainSpLMD|142891	OMIM|611575
tRG	RAB8A	0.370326444	0.001387569	GTPase	BrainSpLMD|4218	OMIM|165040
tRG	PPP1CA	0.66416262	0.001396337	Serine/threonine phosphatase	BrainSpLMD|5499	OMIM|176875
tRG	ZBTB43	0.397189727	0.001409987	Transcription regulatory protein	BrainSpLMD|23099	
tRG	SENP2	0.350043961	0.001418979	Ubiquitin proteasome system protein	BrainSpLMD|59343	OMIM|608261
tRG	FANCL	0.397312914	0.001420466	Enzyme: Ligase	BrainSpLMD|55120;Eurexp|euxassay_006857|ventricular layer	OMIM|608111;HPO|55120|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Cafe-au-lait spot, Chromosome breakage, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Phenotypic variability, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
tRG	MED14	0.378917639	0.001423836	Transcription regulatory protein	BrainSpLMD|9282;Eurexp|euxassay_019541|clavicle, incisor, lung, molar, oesophagus, olfactory, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, valve, vertebral axis muscle system, vibrissa	OMIM|300182
tRG	CNIH1	0.630128133	0.00143661	Integral membrane protein	BrainSpLMD|10175	OMIM|611287
tRG	AAED1	0.56108571	0.001437604	Unclassified		
tRG	GNL2	0.540258644	0.001447683	GTPase	BrainSpLMD|29889;Eurexp|euxassay_001872|cervical, cervico-thoracic, cortex, dorsal root ganglion, thymus primordium, vibrissa	OMIM|609365
tRG	APTX	0.951070329	0.001472125	DNA repair protein	BrainSpLMD|54840	OMIM|606350;HPO|54840|Adult onset, Areflexia, Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cognitive impairment, Decreased number of large peripheral myelinated nerve fibers, Dementia, Distal amyotrophy, Distal sensory impairment, Dysarthria, Dystonia, Gait ataxia, Gait disturbance, Gaze-evoked nystagmus, Hypercholesterolemia, Hypoalbuminemia, Hypometric saccades, Hyporeflexia, Juvenile onset, Limb ataxia, Medial flaring of the eyebrow, Muscle weakness, Oculomotor apraxia, Peripheral axonal degeneration, Peripheral neuropathy, Pes cavus, Progressive external ophthalmoplegia, Scoliosis, Tremor, Truncal ataxia
tRG	SIK2	0.51916884	0.001507664	Serine/threonine kinase	BrainSpLMD|23235	OMIM|608973
tRG	TMEM237	0.326366329	0.001525188	Unclassified	BrainSpLMD|65062	OMIM|614423;HPO|65062|Apnea, Ataxia, Autistic behavior, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Coloboma, Dandy-Walker malformation, Deeply set eye, Downslanted palpebral fissures, Encephalocele, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, High forehead, Highly arched eyebrow, Hydrocephalus, Hypertelorism, Hypertension, Intellectual disability, Intellectual disability, severe, Iris coloboma, Irritability, Long face, Low-set ears, Low-set, posteriorly rotated ears, Malar flattening, Microphthalmia, Molar tooth sign on MRI, Morning glory anomaly, Muscular hypotonia, Nephropathy, Nystagmus, Oculomotor apraxia, Open mouth, Postaxial polydactyly, Posteriorly rotated ears, Prominent nasal bridge, Ptosis, Renal cyst, Retinal dystrophy, Short philtrum, Strabismus, Tachypnea, Tented upper lip vermilion
tRG	DNAJC18	0.297750244	0.001543694	Unclassified	BrainSpLMD|202052;Eurexp|euxassay_012133|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones	
tRG	ORAI2	1.105243767	0.001594274	Unclassified	BrainSpLMD|80228;Eurexp|euxassay_008399|brain, dorsal root ganglion, glossopharyngeal IX, incisor, molar, naris, neural retina, olfactory, respiratory, spinal cord, thyroid, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|610929
tRG	EFHC1	0.809128618	0.001612872	Unclassified	BrainSpLMD|114327;Eurexp|euxassay_011763|choroid invagination, choroid plexus, epithelium, olfactory, roof plate	OMIM|608815;HPO|114327|Abnormality of eye movement, Abnormality of the mouth, EEG with polyspike wave complexes, Generalized tonic-clonic seizures
tRG	PRKAR1A	0.301121105	0.001683537	Serine/threonine kinase	BrainSpLMD|5573;Eurexp|euxassay_001469|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V	OMIM|188830;COSMIC||papillary thyroid, myxoma, endocrine, papillary thyroid;HPO|5573|Abnormal form of the vertebral bodies, Abnormal prolactin level, Abnormality of circulating adrenocorticotropin level, Abnormality of female external genitalia, Abnormality of immune system physiology, Abnormality of the eye, Abnormality of the nail, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Adrenal hyperplasia, Agitation, Anteverted nares, Anxiety, Autism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bacterial endocarditis, Blue irides, Blue nevus, Brachycephaly, Brachydactyly, Broad nasal tip, Broad palm, Bruising susceptibility, Calvarial hyperostosis, Cardiac myxoma, Cerebral venous thrombosis, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Congenital craniofacial dysostosis, Congenital hypothyroidism, Congestive heart failure, Cryptorchidism, Decreased circulating ACTH level, Delayed eruption of teeth, Delayed speech and language development, Dental malocclusion, Depressed nasal bridge, Depressed nasal ridge, Depressivity, Diabetes mellitus, Dislocated radial head, Disproportionate short-limb short stature, Easy fatigability, Elevated calcitonin, Elevated circulating parathyroid hormone level, Enlarged polycystic ovaries, Epicanthus, Epiphyseal stippling, Exertional dyspnea, Fatigue, Freckling, Global developmental delay, Growth hormone deficiency, Growth hormone excess, Hearing impairment, Heart murmur, Heterogeneous, Hirsutism, Hydrocephalus, Hyperactivity, Hyperphosphatemia, Hypertelorism, Hypertension, Hypocalcemia, Hypodontia, Hypogonadism, Hypoplasia of the maxilla, Hypoplasia of the nasal bone, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic vertebral bodies, Hypospadias, Increased circulating cortisol level, Increased intracranial pressure, Increased susceptibility to fractures, Increased urinary cortisol level, Intellectual disability, Intrauterine growth retardation, Kyphosis, Long hallux, Malar flattening, Mandibular prognathia, Melanocytic nevus, Menstrual irregularities, Mental deterioration, Micromelia, Midface retrusion, Mild postnatal growth retardation, Mild short stature, Mood changes, Multiple lentigines, Muscle weakness, Myxoid subcutaneous tumors, Narrow vertebral interpedicular distance, Neonatal epiphyseal stippling, Nevus, Non-medullary thyroid carcinoma, Obesity, Onset, Open mouth, Optic atrophy, Osteopenia, Osteoporosis, Papillary thyroid carcinoma, Paradoxical increased cortisol secretion on dexamethasone suppression test, Peripheral Schwannoma, Peripheral neuropathy, Pheochromocytoma, Pigmented micronodular adrenocortical disease, Pituitary adenoma, Pituitary growth hormone cell adenoma, Primary hypercorticolism, Profuse pigmented skin lesions, Pseudohypoparathyroidism, Psychosis, Pulmonic valve myxoma, Red hair, Round face, Schwannoma, Scoliosis, Short metacarpal, Short metatarsal, Short nose, Short palm, Short phalanx of finger, Short stature, Short toe, Skeletal muscle atrophy, Slender build, Specific learning disability, Spinal canal stenosis, Strabismus, Striae distensae, Thin skin, Thyroid adenoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Truncal obesity, Vestibular Schwannoma, Wide nasal bridge
tRG	DYNC2LI1	0.385256258	0.001698673	Motor protein	BrainSpLMD|51626	OMIM|617083;HPO|51626|Abnormality of oral frenula, Abnormality of oral mucosa, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the fingernails, Abnormality of the heart valves, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Aplasia/Hypoplasia of the lungs, Atrial septal defect, Atrioventricular canal defect, Autosomal recessive inheritance, Brachydactyly, Capitate-hamate fusion, Cone-shaped epiphysis, Conical incisor, Cryptorchidism, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Epispadias, Failure to thrive, Foot polydactyly, Genu valgum, Hand polydactyly, Hepatomegaly, Horizontal ribs, Hypodontia, Hypoplastic toenails, Hypospadias, Intrauterine growth retardation, Low-set ears, Microdontia, Micromelia, Nail dysplasia, Narrow chest, Neonatal short-limb short stature, Polyhydramnios, Postaxial hand polydactyly, Respiratory insufficiency, Short distal phalanx of finger, Short foot, Short ribs, Short stature, Short thorax, Situs inversus totalis, Skeletal dysplasia, Splenomegaly, Strabismus, Ventricular septal defect
tRG	STK39	0.555992401	0.001700141	Serine/threonine kinase	BrainSpLMD|27347	SFARI||Autism, 4 - Minimal evidence;OMIM|607648
tRG	WBSCR22	0.325662576	0.001735987			
tRG	RNF139	0.832576265	0.001739571	Integral membrane protein	BrainSpLMD|11236	OMIM|603046;HPO|11236|Renal cell carcinoma, Sporadic
tRG	RPS10	0.67863343	0.001745562	Ribosomal subunit	Eurexp|euxassay_005918|embryo	OMIM|603632;HPO|6204|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Anemia, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Growth delay, Macrocytic anemia, Migraine, Pallor, Vitamin D deficiency
tRG	DNAJB9	0.713386583	0.001750557	Chaperone	BrainSpLMD|4189	OMIM|602634
tRG	PLEKHB2	0.581814835	0.001813168	Unclassified	BrainSpLMD|55041	
tRG	UFM1	0.336962216	0.001828316	Unclassified	BrainSpLMD|51569	OMIM|610553
tRG	EMC2	0.499098774	0.001859891	Unclassified	BrainSpLMD|9694	OMIM|607722
tRG	SNHG15	0.309929538	0.001861463			
tRG	SUZ12	0.594411747	0.001871349	Unclassified	BrainSpLMD|23512;Eurexp|euxassay_011822|Meckel's cartilage, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, orbito-sphenoid, petrous part, scapula, tibia, turbinate	OMIM|606245;COSMIC||endometrial stromal tumour;HPO|23512|Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Accelerated skeletal maturation, Broad foot, Broad forehead, Broad thumb, Camptodactyly of finger, Deep philtrum, Deep-set nails, Feeding difficulties in infancy, Fine hair, Global developmental delay, Hoarse voice, Hypertelorism, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Joint stiffness, Large hands, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Micrognathia, Redundant skin, Retrognathia, Round face, Spasticity, Tall stature, Thin nail
tRG	IARS	0.573609794	0.001901553	Enzyme: Ligase	BrainSpLMD|3376;Eurexp|euxassay_001939|Meckel's cartilage, cervical, cervico-thoracic, cortex, dorsal root ganglion, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	OMIM|600709;HPO|3376|Autosomal recessive inheritance, Congenital onset, Failure to thrive, Generalized hypotonia, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Microcephaly, Postnatal growth retardation, Variable expressivity
tRG	FBXO30	0.730267829	0.001939538	Ubiquitin proteasome system protein	BrainSpLMD|84085;Eurexp|euxassay_003659|embryo	OMIM|609101
tRG	PLCG1	0.35312962	0.001941859	Enzyme: Phospholipase	BrainSpLMD|5335;BrainSpMouseDev|18567	OMIM|172420;COSMIC||angiosarcoma
tRG	MRPS9	0.382372282	0.001947074	Ribosomal subunit	BrainSpLMD|64965;Eurexp|euxassay_012552|thymus primordium	OMIM|611975
tRG	MRPS14	0.376194801	0.001971957	Ribosomal subunit	BrainSpLMD|63931	OMIM|611978
tRG	OARD1	0.738089676	0.002018555	Unclassified	BrainSpLMD|221443	OMIM|614393
tRG	RAP2C	0.316210021	0.002021472	GTPase	BrainSpLMD|57826	
tRG	PEF1	0.332017045	0.002035887	Calcium binding protein	BrainSpLMD|553115	OMIM|610033
tRG	MTA3	0.43732317	0.002095687	Transcription regulatory protein	BrainSpLMD|57504;BrainSpMouseDev|78179	OMIM|609050
tRG	MTAP	0.667944016	0.002107053	Enzyme: Phosphorylase	BrainSpLMD|4507;Eurexp|euxassay_003372|axial muscle, cranium, incisor, mantle layer, marginal layer, orbito-sphenoid, submandibular gland primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|156540
tRG	COL9A1	0.341427787	0.002120999	Extracellular matrix protein	BrainSpLMD|1297;Eurexp|euxassay_011520|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, hyoid bone, mandible, maxilla, metacarpus, metatarsus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, radius, rib, scapula, sternum, submandibular gland primordium, temporal bone, thyroid, tibia, trachea, turbinate, ulna, vault of skull;BrainSpMouseDev|12622	OMIM|120210;HPO|1297|Abnormality of epiphysis morphology, Abnormality of the knee, Amblyopia, Arthralgia, Arthralgia of the hip, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Childhood onset, Cleft palate, Degenerative vitreoretinopathy, Epiphyseal dysplasia, Flat capital femoral epiphysis, Flat distal femoral epiphysis, Flat face, Gait disturbance, Genu valgum, Hip dysplasia, Irregular distal femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Limitation of joint mobility, Malar flattening, Micrognathia, Micromelia, Multiple epiphyseal dysplasia, Myopia, Osteoarthritis, Platyspondyly, Retinal detachment, Schmorl's node, Sensorineural hearing impairment, Severe Myopia, Short stature, Small epiphyses, Vitreoretinal degeneration
tRG	THYN1	0.551068082	0.002121382	Unclassified	BrainSpLMD|29087	OMIM|613739
tRG	DMTF1	0.314436437	0.002194835	Transcription factor	BrainSpLMD|9988	OMIM|608491
tRG	TP53BP2	0.367115755	0.002224995	Cell cycle control protein	BrainSpLMD|7159	OMIM|602143
tRG	UNC50	0.706835938	0.002236615	RNA binding protein	BrainSpLMD|25972	
tRG	NCBP2	0.351637208	0.002238406	RNA binding protein	BrainSpLMD|22916;Eurexp|euxassay_008123|embryo	OMIM|605133
tRG	LAMTOR1	0.371802691	0.002267085	Unclassified	BrainSpLMD|55004	OMIM|613510
tRG	CWC22	0.316884741	0.002272837	Unclassified		OMIM|615186
tRG	NEIL2	0.512784744	0.002276053	DNA repair protein	BrainSpLMD|252969	OMIM|608933
tRG	FARSB	0.502705536	0.002309671	Enzyme: Ligase	BrainSpLMD|10056;Eurexp|euxassay_006146|axial muscle, brain, cortex, cranial muscle, dorsal root ganglion, excretory component, glossopharyngeal IX, liver, lung, midgut, olfactory, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|609690
tRG	RFC5	0.254212584	0.002319722	DNA binding protein	BrainSpLMD|5985	OMIM|600407
tRG	HNRNPA3	0.283890866	0.002343085	Ribonucleoprotein		OMIM|605372
tRG	DTX4	0.889014448	0.002343393	Ubiquitin proteasome system protein	Eurexp|euxassay_015898|floor plate, floorplate, ventricular layer;BrainSpMouseDev|83873	OMIM|616110
tRG	BBIP1	0.301863027	0.002348816			OMIM|613605;HPO|92482|Abnormal electroretinogram, Autosomal recessive inheritance, Brachydactyly, Cataract, Cognitive impairment, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Multicystic kidney dysplasia, Nystagmus, Obesity, Pigmentary retinopathy, Postaxial hand polydactyly, Renal insufficiency, Rod-cone dystrophy, Short stature
tRG	MED29	0.343813917	0.002370345	Transcription regulatory protein	BrainSpLMD|55588	OMIM|612914
tRG	UAP1	0.541786409	0.002382369	Enzyme: Phosphorylase	BrainSpLMD|6675	OMIM|602862
tRG	NFYC	0.356639052	0.002418458	Transcription factor	BrainSpLMD|4802;BrainSpMouseDev|17813	OMIM|605344
tRG	RHOT1	0.626140462	0.002496156	GTPase	BrainSpLMD|55288	OMIM|613888
tRG	BCL2L13	0.445671112	0.00251546	Integral membrane protein	BrainSpLMD|23786	
tRG	EPB41L5	0.43967306	0.002519958	Cytoskeletal associated protein	BrainSpLMD|57669;Eurexp|euxassay_014313|calyces, left lung, pelvis, right lung, thymus primordium, thyroid	OMIM|611730
tRG	PRDX4	0.374270684	0.002577345	Enzyme: Peroxidase	BrainSpLMD|10549	OMIM|300927
tRG	KLHL20	0.399972362	0.002583498	Cytoskeletal associated protein	BrainSpLMD|27252;Eurexp|euxassay_005048|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thymus primordium, trigeminal V, vagus X	OMIM|617679
tRG	TMEM14C	0.397391826	0.002600024	Integral membrane protein	BrainSpLMD|51522;Eurexp|euxassay_000161|basal plate, biceps, brachialis, cerebral cortex, deltoid, dorsal root ganglion, erector spinae, external oblique, facial VII, floorplate, genioglossus, glossopharyngeal IX, gluteus maximus, hamstring, hyoglossus, ilio-psoas, infraspinatus, inner ear, intrinsic, labyrinth, lateral wall, latissimus dorsi, mantle layer, marginal layer, masseter, midbrain, middle ear, myelohyoid, naso-lacrimal duct, neural retina, otic capsule, palatoglossus, pectoralis major, pectoralis minor, quadratus lumborum, quadriceps, rectus abdominis, retina, roof plate, serratus anterior, skeletal muscle, spinal cord, styloglossus, sublingual gland primordium, submandibular gland primordium, subscapularis, supraspinatus, tegmentum, telencephalon, teres major, thymus primordium, transverse component, transversus abdominis, trapezius, triceps, trigeminal V, vagus X, ventricular layer, vertical component, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|615318
tRG	DUT	0.525809289	0.002626299	Enzyme: Hydrolase	BrainSpLMD|1854	OMIM|601266
tRG	NSUN4	0.615468481	0.002689539	Unclassified	BrainSpLMD|387338	OMIM|615394
tRG	RP11.544A12.4	0.470186652	0.00271797			
tRG	ACTBP2	0.266324033	0.002779684			
tRG	ATIC	0.667314471	0.002780533	Enzyme: Hydrolase	BrainSpLMD|471;Eurexp|euxassay_001450|cortex, heart, left ventricle, olfactory, right ventricle	OMIM|601731;COSMIC||ALCL;HPO|471|Abnormality of metabolism/homeostasis, Abnormality of the skin, Anteverted nares, Atrial septal defect, Autosomal recessive inheritance, Brachycephaly, Clitoral hypertrophy, Congenital blindness, Frontal bossing, Fused labia minora, Generalized hypotonia, Intellectual disability, profound, Intellectual disability, severe, Low-set ears, Optic atrophy, Prominent forehead, Prominent nasal bridge, Seizures, Thin upper lip vermilion, Wide mouth
tRG	METTL2B	0.978784931	0.002879973	Enzyme: Methyltransferase	BrainSpLMD|55798	OMIM|607846
tRG	FAM127A	0.359508918	0.002898209			
tRG	DDX27	0.348281301	0.002923841	RNA helicase	BrainSpLMD|55661	OMIM|616621
tRG	RPA2	0.395347736	0.003045352	DNA binding protein	BrainSpLMD|6118;Eurexp|euxassay_004500|marginal layer, ventricular layer	OMIM|179836
tRG	SIRT1	0.411964126	0.003089691	Enzyme: Deacetylase	BrainSpLMD|23411	OMIM|604479
tRG	NCKAP1	0.366406291	0.0031219	Integral membrane protein	BrainSpLMD|10787;Eurexp|euxassay_009378|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|30368	SFARI||Autism, 2 - Strong candidate;OMIM|604891
tRG	STOML2	0.304861789	0.003193146	Membrane transport protein	BrainSpLMD|30968	OMIM|608292
tRG	EIF2S2P4	0.25552429	0.003214616			
tRG	NUBPL	0.771663808	0.00322727	Unclassified	BrainSpLMD|80224	OMIM|613621;HPO|80224|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
tRG	ASCL1	0.357297236	0.003260762	Transcription factor	BrainSpLMD|429;BrainSpMouseDev|16941	OMIM|100790;HPO|429|Abnormality of temperature regulation, Abnormality of the cardiovascular system, Abnormality of the mouth, Aganglionic megacolon, Autonomic dysregulation, Autosomal dominant inheritance, Breathing dysregulation, Central hypoventilation, Central sleep apnea, Constipation, Death in infancy, Downslanted palpebral fissures, Dysautonomia, Failure to thrive, Feeding difficulties, Ganglioneuroblastoma, Ganglioneuroma, Gastroesophageal reflux, Hyperhidrosis, Intellectual disability, Low-set ears, Muscular hypotonia, Posteriorly rotated ears, Seizures, Small for gestational age, Strabismus
tRG	TKT	0.388429176	0.003262589	Enzyme: Transketolase	BrainSpLMD|7086	OMIM|606781;HPO|7086|Autosomal recessive inheritance, Intellectual disability, Patent ductus arteriosus, Patent foramen ovale, Proportionate short stature, Self-injurious behavior, Stereotypy, Ventricular septal defect
tRG	HPS4	0.323277533	0.003318148	Unclassified	BrainSpLMD|89781;Eurexp|euxassay_006298|loop, midgut	OMIM|606682;HPO|89781|Abnormal platelet granules, Albinism, Autosomal recessive inheritance, Ocular albinism, Pulmonary fibrosis
tRG	EIF4E3	0.266279296	0.003402505	RNA binding protein	BrainSpLMD|317649;Eurexp|euxassay_007888|neural retina, olfactory, vomeronasal organ	OMIM|609896
tRG	RBMXL1	0.422425604	0.00341746	-		
tRG	UBE3B	0.6097638	0.003520075	Ubiquitin proteasome system protein	BrainSpLMD|89910	SFARI||Autism, 5 - Hypothesized but untested;OMIM|608047;HPO|89910|Absent eyebrow, Arachnodactyly, Autosomal recessive inheritance, Bell-shaped thorax, Blepharophimosis, Brachycephaly, Carious teeth, Clinodactyly of the 5th finger, Clitoral hypertrophy, Constipation, Diastema, Epicanthus, Failure to thrive, Feeding difficulties, Flat occiput, Generalized hypotonia, Global developmental delay, Growth delay, High palate, High, narrow palate, Intellectual disability, Laryngeal stridor, Long face, Long foot, Long palm, Metatarsus adductus, Microcephaly, Microcornea, Microdontia, Micrognathia, Muscle flaccidity, Myopia, Narrow face, Narrow palm, Neonatal respiratory distress, Nystagmus, Optic atrophy, Optic disc pallor, Ovoid vertebral bodies, Preauricular skin tag, Ptosis, Respiratory distress, Respiratory failure, Retrognathia, Short nose, Short palpebral fissure, Short philtrum, Single transverse palmar crease, Smooth philtrum, Sparse and thin eyebrow, Specific learning disability, Strabismus, Telecanthus, Thin eyebrow, Thin upper lip vermilion, Thin vermilion border, Upslanted palpebral fissure, Wide mouth
tRG	GALNT1	0.820868475	0.00352626	Enzyme: Galactosyltransferase	BrainSpLMD|2589;Eurexp|euxassay_004959|4th ventricle, clavicle, incisor, liver, lung, mandible, maxilla, metanephros, orbito-sphenoid, palatal shelf, retina, thymus primordium, trachea, ventricular layer	OMIM|602273
tRG	DHTKD1	0.482061448	0.003543656	Enzyme: Oxidoreductase	BrainSpLMD|55526	OMIM|614984;HPO|55526|Aminoaciduria, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Delayed speech and language development, Difficulty walking, Generalized hypotonia, Global developmental delay, Intellectual disability, mild, Microcephaly, Phenotypic variability, Skeletal muscle atrophy
tRG	TIMM44	1.03214739	0.003556527	Enzyme: Translocase	BrainSpLMD|10469	OMIM|605058
tRG	EFCAB14	0.586789441	0.003599196	Unclassified		
tRG	CNOT10	0.490430881	0.003601236	Unclassified	BrainSpLMD|25904	
tRG	ALDH7A1	0.440445207	0.003613933	Enzyme: Oxidoreductase	BrainSpLMD|501	OMIM|107323;HPO|501|Abnormality of metabolism/homeostasis, Abnormality of movement, Autosomal recessive inheritance, Delayed speech and language development, EEG abnormality, Fetal distress, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Intellectual disability, Muscular hypotonia, Neonatal respiratory distress, Neurological speech impairment, Prenatal movement abnormality, Respiratory distress, Status epilepticus
tRG	WDR45B	0.504712385	0.003663061	Unclassified	BrainSpLMD|56270	OMIM|609226
tRG	LBR	0.550729154	0.003685697	Integral membrane protein	BrainSpLMD|3930	OMIM|600024;HPO|3930|11 pairs of ribs, Abnormal foot bone ossification, Abnormal joint morphology, Abnormal lung lobation, Abnormal ossification involving the femoral head and neck, Abnormal pelvis bone ossification, Abnormal vertebral ossification, Abnormality of cholesterol metabolism, Abnormality of chromosome segregation, Abnormality of leukocytes, Abnormality of the calcaneus, Abnormality of the gastric mucosa, Abnormality of the scapula, Abnormality of the vertebral spinous processes, Absent or minimally ossified vertebral bodies, Absent toenail, Anterior rib punctate calcifications, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Barrel-shaped chest, Biliary cirrhosis, Bone marrow hypocellularity, Bowing of the long bones, Brachydactyly, Broad palm, Calcinosis, Calcinosis cutis, Calvarial skull defect, Cardiomegaly, Cystic hygroma, Decreased skull ossification, Depressed nasal bridge, Diaphyseal thickening, Disproportionate short-limb short stature, Dysphagia, Elevated alkaline phosphatase, Elevated hepatic transaminases, Epiphyseal stippling, Extramedullary hematopoiesis, Fatigue, Fever, Flared metaphysis, Gastroesophageal reflux, Gastrointestinal hemorrhage, Global developmental delay, Hepatic calcification, Hepatomegaly, Hepatosplenomegaly, High forehead, Horizontal sacrum, Hyperbilirubinemia, Hypertelorism, Hypoplasia of the maxilla, Hypoplastic fingernail, Hypoplastic vertebral bodies, Hyposegmentation of neutrophil nuclei, Intestinal malrotation, Irregular hyperpigmentation, Jaundice, Keratoconjunctivitis sicca, Laryngeal calcification, Lethal skeletal dysplasia, Lip telangiectasia, Long clavicles, Low-set ears, Lymphedema, Macrocephaly, Malar flattening, Mesomelia, Metaphyseal cupping, Micrognathia, Micromelia, Midface retrusion, Misalignment of teeth, Mucosal telangiectasiae, Multiple prenatal fractures, Myalgia, Narrow chest, Neonatal death, Nonimmune hydrops fetalis, Omphalocele, Palmar telangiectasia, Pancreatic islet-cell hyperplasia, Patchy variation in bone mineral density, Platyspondyly, Pleural effusion, Polydactyly, Polyhydramnios, Postaxial foot polydactyly, Postaxial hand polydactyly, Preeclampsia, Prominent forehead, Pruritus, Pulmonary hypoplasia, Punctate vertebral calcifications, Raynaud phenomenon, Rhizomelia, Sandal gap, Sclerodactyly, Scleroderma, Sclerosis of skull base, Severe hydrops fetalis, Severe short-limb dwarfism, Short diaphyses, Short phalanx of finger, Short ribs, Skin rash, Skin ulcer, Splenomegaly, Steatorrhea, Sternal punctate calcifications, Stillbirth, Supernumerary vertebral ossification centers, Telangiectasia of the skin, Tracheal calcification, Ulnar deviation of the hand, Xerostomia
tRG	RP11.278C7.1	0.621636592	0.00378373			
tRG	15-Sep	0.30980652	0.003792493			
tRG	SNX2	0.396581899	0.003843512	Transport/cargo protein	BrainSpLMD|6643	OMIM|605929
tRG	HCG18	0.670990894	0.003951033			
tRG	LDB2	0.269764524	0.004030338	Transcription regulatory protein	BrainSpLMD|9079;BrainSpMouseDev|16597	OMIM|603450
tRG	ACIN1	0.40390173	0.0041314	DNA binding protein	BrainSpLMD|22985	OMIM|604562
tRG	STK17B	0.67397743	0.004186939	Serine/threonine kinase	BrainSpLMD|9262	OMIM|604727
tRG	RP11.169K16.7	0.633798456	0.0043245			
tRG	POLDIP3	0.495467103	0.004403268	RNA binding protein	BrainSpLMD|84271	OMIM|611520
tRG	INTS2	0.402790251	0.004426954	Unclassified	BrainSpLMD|57508	OMIM|611346
tRG	B3GALNT1	0.961534355	0.004439675	Enzyme: Galactosyltransferase	BrainSpLMD|8706;Eurexp|euxassay_003465|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn	OMIM|603094
tRG	STARD4	0.550016437	0.004475648	Unclassified	BrainSpLMD|134429;Eurexp|euxassay_008767|hindgut, midgut, rectum	OMIM|607049
tRG	FTSJ3	0.526127195	0.004612937	Unclassified	BrainSpLMD|117246;Eurexp|euxassay_006943|dorsal root ganglion, glossopharyngeal IX, hypothalamus, mantle layer, marginal layer, ovary, trigeminal V, vagus X, vestibulocochlear VIII	
tRG	C8orf33	0.891820199	0.004756129	Unclassified	BrainSpLMD|65265	
tRG	IAH1	0.499789314	0.00479442	Enzyme: Esterase	Eurexp|euxassay_005176|brain, glossopharyngeal IX, metanephros, pancreas, spinal cord, testis, thymus primordium, thyroid, trigeminal V, vestibulocochlear VIII	
tRG	TUBB4B	0.497906682	0.004812073	Structural protein	BrainSpLMD|10383	OMIM|602660
tRG	PTCD3	0.277371831	0.004859158	Unclassified	BrainSpLMD|55037	OMIM|614918
tRG	TMEM230	0.631934261	0.004865896	Integral membrane protein	BrainSpLMD|29058	OMIM|617019
tRG	SPIDR	0.523789863	0.004880039	Unclassified		OMIM|615384;HPO|23514|Aplasia/Hypoplasia of the breasts, Aplasia/hypoplasia of the uterus, Decreased fertility, Decreased serum estradiol, Delayed puberty, Delayed skeletal maturation, Gonadal dysgenesis, Increased circulating gonadotropin level, Osteopenia, Osteoporosis of vertebrae, Premature ovarian insufficiency, Primary amenorrhea, Sparse pubic hair, Streak ovary
tRG	DMD	0.638911273	0.005017054	Structural protein	BrainSpLMD|1756;Eurexp|euxassay_010997|incisor, lateral wall, mantle layer, molar, ventricular layer, vibrissa	SFARI||Autism, No category;OMIM|300377;HPO|1756|Abnormal urinary color, Adult onset, Arrhythmia, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Childhood onset, Cognitive impairment, Congestive heart failure, Delayed speech and language development, Difficulty climbing stairs, Difficulty walking, Dilated cardiomyopathy, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Exercise intolerance, Falls, Fatigue, Flexion contracture, Generalized hypotonia, Global developmental delay, Gowers sign, Hyperlordosis, Hyporeflexia, Hypoventilation, Intellectual disability, Intellectual disability, mild, Motor delay, Muscle cramps, Muscle weakness, Muscular dystrophy, Myalgia, Myoglobinuria, Progressive muscle weakness, Proximal muscle weakness, Respiratory failure, Respiratory insufficiency, Scoliosis, Skeletal muscle atrophy, Specific learning disability, Waddling gait, X-linked inheritance, X-linked recessive inheritance
tRG	CBL	0.537112925	0.005119868	Ubiquitin proteasome system protein	BrainSpLMD|867	OMIM|165360;COSMIC||AML, JMML, MDS;HPO|867|Aortic valve stenosis, Autosomal dominant inheritance, Bicuspid aortic valve, Cafe-au-lait spot, Cryptorchidism, Cubitus valgus, Deep philtrum, Delayed speech and language development, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Fine hair, Frontal bossing, Generalized hypotonia, Global developmental delay, Hypertelorism, Joint hypermobility, Joint laxity, Juvenile myelomonocytic leukemia, Long philtrum, Low-set ears, Macrotia, Mitral regurgitation, Pectus excavatum, Phenotypic variability, Posteriorly rotated ears, Ptosis, Short neck, Somatic mutation, Sparse hair, Thick vermilion border, Triangular face, Webbed neck, Wide intermamillary distance
tRG	SEC24C	0.40398635	0.005123079	Transport/cargo protein	BrainSpLMD|9632	OMIM|607185;HPO|9632|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
tRG	CRKL	0.281471723	0.005217703	Adapter molecule	BrainSpLMD|1399	OMIM|602007;HPO|1399|Abnormality of earlobe, Absent fingernail, Absent toenail, Clinodactyly of the 5th finger, Deeply set eye, Global developmental delay, Highly arched eyebrow, Intellectual disability, Intrauterine growth retardation, Language impairment, Microcephaly, Neoplasm, Pes planus, Pointed chin, Premature birth, Short stature, Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Underdeveloped nasal alae
tRG	ATP6AP2	0.398139524	0.005312718	Cell surface receptor	BrainSpLMD|10159	OMIM|300556;HPO|10159|Action tremor, Agraphesthesia, Astereognosia, Autosomal recessive inheritance, Babinski sign, Bradykinesia, Cerebellar atrophy, Cerebral atrophy, Cogwheel rigidity, Delayed speech and language development, Gait disturbance, Generalized tonic-clonic seizures, Hypomimic face, Hypoplasia of the corpus callosum, Hyporeflexia, Infantile onset, Intellectual disability, Motor delay, Parkinsonism, Resting tremor, Slow progression, Variable expressivity, X-linked recessive inheritance
tRG	ZC3HC1	0.663385623	0.005317241	Unclassified	BrainSpLMD|51530	
tRG	NEDD1	0.673457715	0.005323193	Unclassified	BrainSpLMD|121441;Eurexp|euxassay_017529|ventricular layer	OMIM|600372
tRG	PGAM1	0.447701433	0.005407604	Enzyme: Mutase		OMIM|172250
tRG	ANXA7	0.594751872	0.005430654	Calcium binding protein	BrainSpLMD|310	OMIM|186360
tRG	THAP1	0.346803708	0.005593083	DNA binding protein	BrainSpLMD|55145	OMIM|609520;HPO|55145|Abnormality of the head, Autosomal dominant inheritance, Dysarthria, Laryngeal dystonia, Limb dystonia, Lingual dystonia, Oromandibular dystonia, Torsion dystonia, Torticollis, Writer's cramp
tRG	GANAB	0.380616236	0.005621723	Enzyme: Hydrolase	BrainSpLMD|23193	OMIM|104160;HPO|23193|Autosomal dominant inheritance, Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia, Variable expressivity
tRG	POT1	0.855870577	0.005632276	DNA binding protein	BrainSpLMD|25913;Eurexp|euxassay_000324|basisphenoid bone, otic capsule, telencephalon, ventricular layer	SFARI||Autism, No category;OMIM|606478;COSMIC||CLL;HPO|25913|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus
tRG	CENPBD1P1	1.198108007	0.005654244		BrainSpLMD|65996	
tRG	ERP29	0.314336566	0.00568416	Chaperone	BrainSpLMD|10961;Eurexp|euxassay_001731|Meckel's cartilage	OMIM|602287
tRG	DDX23	0.464301322	0.005741394	RNA binding protein	BrainSpLMD|9416	OMIM|612172
tRG	TRIM37	0.294164655	0.005777826	Ubiquitin proteasome system protein	BrainSpLMD|4591	OMIM|605073;HPO|4591|Absent frontal sinuses, Astigmatism, Autosomal recessive inheritance, Cachexia, Congestive heart failure, Dental crowding, Depressed nasal bridge, Dolichocephaly, Dysarthria, Frontal bossing, Hepatomegaly, High pitched voice, Hypertelorism, Hypodontia, Hypoplastic frontal sinuses, Intrauterine growth retardation, J-shaped sella turcica, Macrocephaly, Microglossia, Muscular hypotonia, Myocardial fibrosis, Nephroblastoma, Nevus, Pericardial constriction, Pigmentary retinopathy, Reduced tendon reflexes, Short stature, Strabismus, Triangular face, Ventriculomegaly, Weak voice, Wide nasal bridge
tRG	SPAG7	0.324253096	0.005804009	Unclassified	BrainSpLMD|9552	OMIM|610056
tRG	MLLT10	0.325446823	0.005839763	Transcription factor	BrainSpLMD|8028	OMIM|602409;COSMIC||AL
tRG	ADSL	0.396073608	0.005899204	Enzyme: Lyase	BrainSpLMD|158	SFARI||Autism, No category;OMIM|608222;HPO|158|Abnormal facial shape, Absent speech, Aggressive behavior, Anteverted nares, Autism, Autosomal recessive inheritance, Brachycephaly, Brisk reflexes, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Cerebral hypomyelination, Delayed speech and language development, Flat occiput, Gait ataxia, Generalized hypotonia, Global developmental delay, Growth delay, Hyperactivity, Hypointensity of cerebral white matter on MRI, Inability to walk, Inappropriate laughter, Infantile onset, Intellectual disability, Long philtrum, Low-set ears, Microcephaly, Myoclonus, Nystagmus, Opisthotonus, Poor eye contact, Prominent metopic ridge, Seizures, Self-mutilation, Severe global developmental delay, Short nose, Skeletal muscle atrophy, Smooth philtrum, Strabismus, Thin upper lip vermilion, Wide mouth
tRG	C10orf32	0.510179466	0.005995964			
tRG	AP000936.1	0.543881983	0.006008322			
tRG	EPB41L3	0.407944437	0.006014158	Structural protein	BrainSpLMD|23136	OMIM|605331
tRG	CENPV	0.254386407	0.006094845	DNA binding protein	BrainSpLMD|201161	OMIM|608139
tRG	NFE2L1	0.315579056	0.006412434	Transcription factor	BrainSpLMD|4779;BrainSpMouseDev|17790	OMIM|163260
tRG	CPSF2	0.288434206	0.00646301	RNA binding protein	BrainSpLMD|53981	OMIM|606028
tRG	LINC01278	0.875817177	0.006531063			
tRG	DNAJC15	0.380924507	0.006611921	Unclassified	BrainSpLMD|29103;Eurexp|euxassay_002653|adrenal gland	OMIM|615339
tRG	OTUD4	0.58285799	0.006673303	Unclassified	BrainSpLMD|54726	OMIM|611744
tRG	ZNF880	0.529029192	0.006807455	Transcription regulatory protein	BrainSpLMD|400713	
tRG	DTWD1	0.545998601	0.006895662	Unclassified	BrainSpLMD|56986	
tRG	MFAP1	0.269216243	0.006920394	Extracellular matrix protein	BrainSpLMD|4236	OMIM|600215
tRG	ZNF334	0.724372995	0.007039311	DNA binding protein;Transcription regulatory protein	BrainSpLMD|55713	
tRG	PPP1CC	0.399822741	0.007171346	Serine/threonine phosphatase	BrainSpLMD|5501	OMIM|176914
tRG	FARSA	0.324036622	0.007198553	Enzyme: Ligase	BrainSpLMD|2193;Eurexp|euxassay_012957|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|602918
tRG	HK1	0.519529952	0.007258998	Enzyme: Sugar phosphotransferase	BrainSpLMD|3098	OMIM|142600;HPO|3098|Abnormality of the foot, Abnormality of the hand, Autosomal dominant inheritance, Autosomal recessive inheritance, Axonal regeneration, Cholecystitis, Cholelithiasis, Congenital onset, Constriction of peripheral visual field, Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers, Difficulty walking, Distal muscle weakness, Hyperbilirubinemia, Hyporeflexia, Jaundice, Macular atrophy, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Nyctalopia, Optic disc pallor, Peripheral hypomyelination, Peripheral neuropathy, Photophobia, Progressive, Reduced visual acuity, Reticulocytosis, Splenomegaly
tRG	MRPL45	0.340429102	0.007297258	Ribosomal subunit	BrainSpLMD|84311	OMIM|611850
tRG	XPO5	0.48715846	0.007323393	Transport/cargo protein	BrainSpLMD|57510	OMIM|607845
tRG	RP11.395P17.3	0.375815631	0.007374363			
tRG	ZDHHC6	0.420102193	0.007393755	Integral membrane protein	BrainSpLMD|64429	
tRG	GORASP2	0.320138872	0.007472773	Transport/cargo protein	BrainSpLMD|26003	OMIM|608693
tRG	MAP3K7	0.802628075	0.007505092	Serine/threonine kinase	BrainSpLMD|6885;BrainSpMouseDev|26157	OMIM|602614;HPO|6885|Abnormal form of the vertebral bodies, Abnormality of dental morphology, Abnormality of the dentition, Abnormality of the metaphysis, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Anteverted nares, Autosomal dominant inheritance, Bicuspid aortic valve, Bowing of the long bones, Brachydactyly, Broad nasal tip, Camptodactyly, Camptodactyly of finger, Carpal synostosis, Conductive hearing impairment, Cone-shaped epiphysis, Congenital hip dislocation, Congenital sensorineural hearing impairment, Craniofacial hyperostosis, Decreased testicular size, Deep philtrum, Delayed skeletal maturation, Depressed nasal bridge, Dislocated radial head, Downslanted palpebral fissures, Elbow dislocation, Failure to thrive, Freckling, Full cheeks, Fused cervical vertebrae, Gastroesophageal reflux, High palate, Hip contracture, Hypertelorism, Hypoplasia of the musculature, Irregular metacarpals, Joint laxity, Joint stiffness, Long fingers, Long metacarpals, Long philtrum, Micrognathia, Mitral regurgitation, Patent ductus arteriosus, Patent foramen ovale, Pointed chin, Posterior vertebral hypoplasia, Posteriorly rotated ears, Prominent supraorbital ridges, Pseudoepiphyses, Pulmonic stenosis, Recurrent otitis media, Reduced number of teeth, Rib fusion, Scoliosis, Sensorineural hearing impairment, Short distal phalanx of hallux, Short distal phalanx of the thumb, Short foot, Short metacarpal, Short metatarsal, Short philtrum, Short stature, Strabismus, Subglottic stenosis, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Telecanthus, Thick eyebrow, Tracheal stenosis, Ulnar deviation of finger, Ulnar deviation of the hand, Upslanted palpebral fissure, Vesicoureteral reflux, Wide nasal bridge
tRG	CKS1B	0.309361433	0.007530363	Cell cycle control protein		OMIM|116900
tRG	ARCN1	0.564597735	0.007580119	Transport/cargo protein	BrainSpLMD|372	OMIM|600820;HPO|372|2-3 toe syndactyly, Accelerated skeletal maturation, Astigmatism, Autosomal dominant inheritance, Cleft palate, Coxa valga, Failure to thrive, Gait ataxia, High palate, Hypospadias, Hypotelorism, Intellectual disability, Intrauterine growth retardation, Metaphyseal widening, Microcephaly, Micrognathia, Micropenis, Motor delay, Myopia, Obstructive sleep apnea, Retrognathia, Rhizomelia, Scaphocephaly, Scrotal hypoplasia, Seizures, Ventricular septal defect
tRG	GOSR2	0.471958066	0.007652735	Membrane transport protein	BrainSpLMD|9570	OMIM|604027;HPO|9570|Absence seizures, Areflexia, Ataxia, Atonic seizures, Autosomal recessive inheritance, Difficulty walking, Dysarthria, Elevated serum creatine phosphokinase, Myoclonus, Progressive, Scoliosis, Tremor
tRG	CTTNBP2NL	0.364165227	0.007705461	Unclassified	BrainSpLMD|55917;Eurexp|euxassay_003204|axial muscle, bladder, calyces, hindgut, lobe, midgut, oral epithelium, orbito-sphenoid, rectum, stomach, submandibular gland primordium, urethra, vibrissa	OMIM|615100
tRG	GPC6	0.533481269	0.007722291	Growth factor	BrainSpLMD|10082	SFARI||Autism, 4 - Minimal evidence;OMIM|604404;HPO|10082|Anterolateral radial head dislocation, Atrial septal defect, Autosomal recessive inheritance, Axillary pterygia, Blepharophimosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Fibular hypoplasia, Flat face, Frontal bossing, Hemangioma, Hypoplastic distal humeri, Increased fibular diameter, Limited elbow extension, Limited elbow flexion, Limited elbow flexion/extension, Limited hip movement, Limited knee extension, Limited knee flexion, Limited knee flexion/extension, Long philtrum, Malar flattening, Micrognathia, Popliteal pterygium, Pulmonary artery stenosis, Rhizomelia, Short humerus, Short neck, Short nose, Short tibia, Umbilical hernia, Ventricular septal defect, Wide nasal bridge
tRG	PIGX	0.978972079	0.008010169	Unclassified	BrainSpLMD|54965	OMIM|610276
tRG	BMPR1A	0.372022548	0.0080459	Receptor serine/threonine kinase	BrainSpLMD|657;BrainSpMouseDev|11952	OMIM|601299;COSMIC||gastrointestinal polyps;HPO|657|Abdominal pain, Adenomatous colonic polyposis, Anemia, Autosomal dominant inheritance, Colon cancer, Failure to thrive, Hyperplastic colonic polyposis, Hypoalbuminemia, Hypokalemia, Juvenile colonic polyposis, Multiple gastric polyps
tRG	FER	0.482909146	0.008705237	Tyrosine kinase	BrainSpLMD|2241	SFARI||Autism, No category;OMIM|176942
tRG	RSU1	0.362677567	0.008963668	Unclassified	BrainSpLMD|6251	OMIM|179555
tRG	CYB5R3	0.362899594	0.008981572	Enzyme: Reductase	BrainSpLMD|1727	OMIM|613213;HPO|1727|Autosomal recessive inheritance, Cyanosis, Exertional dyspnea, Global developmental delay, Growth delay, Headache, Hypertonia, Intellectual disability, Methemoglobinemia, Microcephaly, Opisthotonus, Polycythemia, Strabismus
tRG	TMEM9	0.479570838	0.009052387	Integral membrane protein	BrainSpLMD|252839;Eurexp|euxassay_003611|choroid plexus, incisor, lateral recess, molar	OMIM|616877
tRG	ATP6V1C1	0.323441854	0.009097127	ATPase	BrainSpLMD|528;Eurexp|euxassay_002745|basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, inferior, mantle layer, marginal layer, superior, trigeminal V, vagus X, ventral grey horn, vestibular component, vibrissa	OMIM|603097
tRG	UFL1	0.293692877	0.009171025	Unclassified	BrainSpLMD|23376	OMIM|613372
tRG	MVD	0.256108228	0.009226892	Enzyme: Decarboxylase	BrainSpLMD|4597	OMIM|603236;HPO|4597|Autosomal dominant inheritance, Cutaneous photosensitivity, Porokeratosis
tRG	POLR2M	0.443984969	0.009277064	Unclassified	BrainSpMouseDev|27759	OMIM|606485
tRG	RALBP1	0.534547395	0.00946286	GTPase activating protein	BrainSpLMD|10928	OMIM|605801
tRG	GTF2H3	0.79601151	0.009465629	Transcription factor	BrainSpLMD|2967;Eurexp|euxassay_002982|submandibular gland primordium	OMIM|601750
tRG	DCP1A	0.512484041	0.00956845	Transcription factor	BrainSpLMD|55802	OMIM|607010
tRG	THUMPD3.AS1	0.364151001	0.009588461			
tRG	KPNA3	0.407913537	0.009877775	Transport/cargo protein	BrainSpLMD|3839	OMIM|601892
tRG	COPS5	0.462503279	0.009929816	Ubiquitin proteasome system protein	BrainSpLMD|10987;Eurexp|euxassay_012062|dorsal root ganglion, exoccipital bone, facial VII, glossopharyngeal IX, mantle layer, orbito-sphenoid, temporal bone, trigeminal V, turbinate, vagus X, ventral grey horn;BrainSpMouseDev|26501	OMIM|604850
vRG	CCDC175	3.270922818	0			
vRG	LIPG	2.729189716	0	Enzyme: Lipase	BrainSpLMD|9388;Eurexp|euxassay_018714|4th ventricle, incisor, larynx, lung, metanephros, midgut, molar, naris, nasal septum, olfactory, rectum, respiratory, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|603684
vRG	MOXD1	2.504033178	0	Enzyme: Oxygenase	BrainSpLMD|26002	OMIM|609000
vRG	EEPD1	2.428333798	0	DNA binding protein	BrainSpLMD|80820;Eurexp|euxassay_002552|dorsal root ganglion, facial VII, orbito-sphenoid, trigeminal V	OMIM|617192
vRG	COL4A5	2.420751493	0	Extracellular matrix protein	BrainSpLMD|1287;Eurexp|euxassay_015894|bladder, ductus deferens, floorplate, lens, lung, meninges, stomach, sublingual gland primordium, submandibular gland primordium, thyroid, umbilical artery, umbilical vein, urethra, ventricular layer;BrainSpMouseDev|12613	OMIM|303630;HPO|1287|Anterior lenticonus, Congenital cataract, Corneal erosion, Diffuse glomerular basement membrane lamellation, Diffuse leiomyomatosis, Heterogeneous, Hypertension, Hypoparathyroidism, Ichthyosis, Microscopic hematuria, Myopia, Nephritis, Nephrotic syndrome, Progressive, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidney disease, Thickening of the glomerular basement membrane, Thrombocytopenia, X-linked dominant inheritance
vRG	SLCO1C1	2.404746592	0	Membrane transport protein	BrainSpLMD|53919;Eurexp|euxassay_007061|4th ventricle, choroid plexus, forebrain, hindbrain, meninges, midbrain, spinal cord, ventricular layer	OMIM|613389
vRG	GPX3	2.381354116	0	Enzyme: Peroxidase	BrainSpLMD|2878;Eurexp|euxassay_003296|foregut-midgut junction, hindgut, incisor, left atrium, midgut, right atrium, stomach;BrainSpMouseDev|14554	OMIM|138321
vRG	FGFBP3	2.362915134	0	Unclassified	BrainSpLMD|143282;Eurexp|euxassay_000173|basal columns, basal plate, corpus striatum, floor plate, floorplate, mantle layer, metencephalon, spinal cord, ventral grey horn, ventricular layer	SFARI||Autism, 5 - Hypothesized but untested
vRG	RP11.76I14.1	2.323087428	0			
vRG	NRG1	2.261810415	0	Growth factor	BrainSpLMD|3084;Eurexp|euxassay_007625|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, testis, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|84285	SFARI||Autism, 5 - Hypothesized but untested;OMIM|142445;COSMIC||NSCLC
vRG	FAM107A	2.208994661	0	Unclassified	BrainSpLMD|11170;Eurexp|euxassay_005179|inner ear, olfactory	OMIM|608295
vRG	NOTCH2	2.207306114	0	Cell surface receptor	BrainSpLMD|4853;Eurexp|euxassay_015406|alimentary system, cardiovascular system, cavities and their linings, choroid plexus, gland, integumental system, limb, marginal layer, meninges, mesenchyme, olfactory, renal/urinary system, reproductive system, respiratory system, skeleton, tail, ventricular layer, vertebral axis muscle system, vomeronasal organ;BrainSpMouseDev|17896	OMIM|600275;COSMIC||marginal zone lymphoma, DLBCL, bladder, Hajdu-Cheney syndrome, serpentine fibula-polycystic kidney syndrome;HPO|4853|Abnormality of the cardiac septa, Abnormality of the fingernails, Absent frontal sinuses, Anteverted nares, Arnold-Chiari malformation, Arthralgia, Atrial septal defect, Autosomal dominant inheritance, Basilar impression, Biconcave vertebral bodies, Bone pain, Brachydactyly, Broad forehead, Cervical instability, Cholestasis, Cholestatic liver disease, Coarse facial features, Conductive hearing impairment, Crowded carpal bones, Cryptorchidism, Decreased skull ossification, Dental malocclusion, Dislocated radial head, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Elongated sella turcica, Epicanthus, Failure to thrive, Foot acroosteolysis, Full cheeks, Generalized hirsutism, Genu valgum, Hearing impairment, Hematuria, High palate, Hirsutism, Hydrocephalus, Hypertelorism, Hypertension, Hypoplastic 5th lumbar vertebrae, Hypospadias, Inguinal hernia, Joint hyperflexibility, Joint laxity, Kyphoscoliosis, Large earlobe, Long eyelashes, Long nose, Long philtrum, Low-set ears, Macrocephaly, Micrognathia, Narrow mouth, Open bite, Osteolysis, Osteolytic defects of the phalanges of the hand, Osteopenia, Osteoporosis, Partial absence of toe, Patent ductus arteriosus, Pathologic fracture, Periodontitis, Peripheral pulmonary artery stenosis, Phenotypic variability, Platybasia, Pointed chin, Posterior embryotoxon, Premature loss of teeth, Prominent occiput, Proteinuria, Pulmonic stenosis, Recurrent fractures, Renal cyst, Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Scoliosis, Short distal phalanx of finger, Short nail, Short neck, Short stature, Short toe, Skeletal dysplasia, Synophrys, Tall lumbar vertebral bodies, Telecanthus, Tetralogy of Fallot, Thick eyebrow, Thin vermilion border, Triangular face, Umbilical hernia, Vertebral compression fractures, Wide nose, Wormian bones
vRG	TNC	2.186752765	0	Adhesion molecule	BrainSpLMD|3371;Eurexp|euxassay_009501|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, cochlea, cochlear duct, diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, fibula, handplate, humerus, lip, lung, mandible, mantle layer, maxilla, maxillary division, mesenchyme, molar, nasal septum, oesophagus, orbito-sphenoid, palatal shelf, pelvic girdle, penis, pharyngo-tympanic tube, rib, scapula, skeletal muscle, sternum, temporal bone, thymus primordium, tibia, tongue, trigeminal V, vault of skull, ventral grey horn, ventricle, ventricular layer, vibrissa;BrainSpMouseDev|21680	OMIM|187380;COSMIC||SCC, melanoma;HPO|3371|Autosomal dominant inheritance, Hearing impairment
vRG	PTN	2.180779967	0	Cytokine	BrainSpLMD|5764	OMIM|162095
vRG	SLC1A3	2.117262462	0	Transport/cargo protein	BrainSpLMD|6507;Eurexp|euxassay_001899|mantle layer, thymus primordium, tongue, ventral grey horn, ventricular layer;BrainSpMouseDev|20274	OMIM|600111;HPO|6507|Autosomal dominant inheritance, Cerebellar hypoplasia, Diplopia, Dysarthria, Episodic ataxia, Generalized hypotonia, Hemiparesis, Hemiplegia, Migraine, Motor delay, Nausea, Phonophobia, Photophobia, Seizures, Slurred speech, Truncal ataxia, Vertigo, Vomiting
vRG	HOPX	2.077415309	0	Transcription regulatory protein	BrainSpLMD|84525;Eurexp|euxassay_010529|anterior, atrium, external, lateral wall, mantle layer, midgut, ventricle, ventricular layer, vibrissa;BrainSpMouseDev|50159	OMIM|607275
vRG	SFRP1	2.027666069	0	Secreted polypeptide	BrainSpLMD|6422;BrainSpMouseDev|20140	OMIM|604156
vRG	GLI3	1.982797958	0	Transcription factor	BrainSpLMD|2737;Eurexp|euxassay_018378|axial skeleton, mesenchyme, phalanx, ventricular layer;BrainSpMouseDev|14410	OMIM|165240;HPO|2737|1-5 toe syndactyly, 3-4 finger syndactyly, Abnormal lung lobation, Abnormality of earlobe, Accelerated skeletal maturation, Anal atresia, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Bifid epiglottis, Broad hallux phalanx, Broad thumb, Cryptorchidism, Dandy-Walker malformation, Decreased circulating cortisol level, Decreased testicular size, Distal shortening of limbs, Distal urethral duplication, Dysplastic distal thumb phalanges with a central hole, Ectopic kidney, Esophageal atresia, Finger syndactyly, Frontal bossing, Growth hormone deficiency, High forehead, Hip dislocation, Holoprosencephaly, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplasia of the epiglottis, Intellectual disability, severe, Intrauterine growth retardation, Laryngeal cleft, Macrocephaly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Micropenis, Nail dysplasia, Neonatal death, Panhypopituitarism, Postaxial foot polydactyly, Postaxial hand polydactyly, Preaxial foot polydactyly, Preaxial polydactyly, Precocious puberty, Preductal coarctation of the aorta, Prominent occiput, Radial head subluxation, Renal cyst, Renal dysplasia, Renal hypoplasia, Scaphocephaly, Seizures, Short nose, Short stature, Sloping forehead, Telecanthus, Thyroid dysgenesis, Toe syndactyly, Tracheoesophageal fistula, Trigonocephaly, Triphalangeal thumb, Variable expressivity, Ventricular septal defect, Wide nasal bridge
vRG	MEGF10	1.981993376	0	Structural protein	BrainSpLMD|84466	SFARI||Autism, 4 - Minimal evidence;OMIM|612453;HPO|84466|Areflexia, Autosomal recessive inheritance, Camptodactyly of finger, Cleft palate, Congenital onset, Decreased fetal movement, Diaphragmatic paralysis, Difficulty running, Dysphagia, Facial palsy, Failure to thrive, High palate, Hyporeflexia, Motor delay, Nasal speech, Neonatal hypotonia, Pectus excavatum, Poor head control, Respiratory distress, Respiratory failure, Restrictive ventilatory defect, Scoliosis, Talipes equinovarus, Variable expressivity
vRG	HES1	1.971353126	0	Transcription factor	BrainSpLMD|3280;Eurexp|euxassay_019489|epithelium, floor plate, floorplate, hindgut, incisor, larynx, lung, metanephros, metatarsus, midgut, molar, neural retina, oesophagus, olfactory, oral epithelium, pancreas, phalanx, pharyngo-tympanic tube, skeleton, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|14981	OMIM|139605
vRG	F3	1.953620845	0	Coagulation factor	BrainSpLMD|2152;Eurexp|euxassay_009157|axial muscle, calyces, epithelium, larynx, left lung, midgut, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, pyloric region, rectum, right lung, ventricular layer, vibrissa	OMIM|134390
vRG	Z83001.1	1.940954692	0			
vRG	TFAP2C	1.903510424	0	Transcription factor	BrainSpLMD|7022;BrainSpMouseDev|21181	OMIM|601602
vRG	PPAP2B	1.884357756	0			
vRG	PSAT1	1.868324003	0	Enzyme: Aminotransferase	BrainSpLMD|29968;Eurexp|euxassay_001596|cranium, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|610936;HPO|29968|Abnormality of the philtrum, Abnormality of the pinna, Absent septum pellucidum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Broad foot, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cleft palate, Congenital onset, Dandy-Walker malformation, Decreased fetal movement, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Feeding difficulties in infancy, Global developmental delay, High palate, Hypertelorism, Hypertonia, Hypoglycinemia, Hypogonadism, Hyposerinemia, Ichthyosis, Infantile onset, Intrauterine growth retardation, Lack of skin elasticity, Large hands, Lissencephaly, Low-set ears, Macrogyria, Macrotia, Microcephaly, Micrognathia, Muscle cramps, Muscular dystrophy, Opisthotonus, Pachygyria, Polyhydramnios, Polymicrogyria, Postnatal microcephaly, Proptosis, Rocker bottom foot, Scoliosis, Seizures, Short neck, Skeletal muscle atrophy, Sloping forehead, Thick vermilion border, Trismus
vRG	LIFR	1.860686262	0	Cytokine receptor	BrainSpLMD|3977;Eurexp|euxassay_010649|axial muscle, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, orbito-sphenoid, thymus primordium, thyroid, tongue, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16651	OMIM|151443;COSMIC||salivary adenoma;HPO|3977|Abnormal metaphyseal trabeculation, Abnormality of dental enamel, Abnormality of vision, Absent patellar reflexes, Adducted thumb, Apnea, Asthma, Autosomal recessive inheritance, Blotching pigmentation of the skin, Broad ischia, Camptodactyly of finger, Contracture of the proximal interphalangeal joint of the 5th finger, Dysautonomia, Dysphagia, Elbow flexion contracture, Enlarged joints, Episodic fever, Feeding difficulties, Feeding difficulties in infancy, Femoral bowing, Flared metaphysis, Flexion contracture of toe, Frontal bossing, Generalized hypotonia, Genu valgum, Hoarse voice, Hyperhidrosis, Hypohidrosis, Hypoplastic iliac body, Impaired pain sensation, Intrauterine growth retardation, Knee flexion contracture, Lacrimation abnormality, Low-set ears, Malar flattening, Metaphyseal rarefaction, Metaphyseal widening, Micrognathia, Micromelia, Midface retrusion, Myotonia, Nasal speech, Oligohydramnios, Opacification of the corneal stroma, Osteopenia, Osteoporosis, Paresthesia, Pathologic fracture, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Pursed lips, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Short neck, Short nose, Short palpebral fissure, Short phalanx of finger, Short stature, Short tibia, Single transverse palmar crease, Skeletal dysplasia, Smooth tongue, Square face, Talipes, Talipes equinovarus, Talipes valgus, Thickened cortex of long bones, Thin ribs, Thin skin, Tibial bowing, Trismus, Ulnar deviation of finger, Wide nasal base
vRG	C8orf4	1.853578163	0			
vRG	PREX2	1.84824236	0	Guanine nucleotide exchange factor	BrainSpLMD|80243	OMIM|612139;COSMIC||melanoma, pancreatic ductal adenocarcinoma
vRG	SALL3	1.817577501	0	DNA binding protein	BrainSpLMD|27164;Eurexp|euxassay_010911|cochlea, glomeruli, inner ear, lip, mantle layer, medulla oblongata, palatal shelf, penis, utricle, valve, ventricular layer;BrainSpMouseDev|20451	OMIM|605079
vRG	ATP1B2	1.80973578	0	ATPase	BrainSpLMD|482;Eurexp|euxassay_011653|lobe, pituitary, ventral grey horn, ventricular layer;BrainSpMouseDev|11718	OMIM|182331
vRG	DACH1	1.808084888	0	Transcription regulatory protein	BrainSpLMD|1602;Eurexp|euxassay_012739|associated mesenchyme, bladder, calyces, cortex, dermis, dorsal root ganglion, facial VII, left lung, mantle layer, meninges, midgut, olfactory, oral region, pelvis, penis, retina, right lung, stomach, thymus primordium, trigeminal V, ureter, urethra, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|12914	OMIM|603803
vRG	SOX9	1.804472414	0	Transcription factor	BrainSpLMD|6662;Eurexp|euxassay_002633|axial skeleton, basisphenoid bone, calyces, exoccipital bone, femur, lung, mesenchyme, naris, nasal septum, nucleus pulposus, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, pharyngo-tympanic tube, trachea, turbinate, ventricular layer, vibrissa;BrainSpMouseDev|20444	OMIM|608160;HPO|6662|11 pairs of ribs, Abnormal heart morphology, Abnormal scrotal rugation, Abnormal sex determination, Abnormality of male internal genitalia, Abnormality of the labia, Abnormality of the pharynx, Abnormality of the scrotum, Abnormality of the uterus, Absent sternal ossification, Ambiguous genitalia, Anterior tibial bowing, Apnea, Autosomal dominant inheritance, Azoospermia, Bifid scrotum, Blepharophimosis, Cleft palate, Clitoral hypertrophy, Cryptorchidism, Decreased fertility, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Depressed nasal bridge, Depressed nasal ridge, Disproportionate short-limb short stature, Dysgerminoma, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Failure to thrive, Female external genitalia in individual with 46,XY karyotype, Femoral bowing, Fibular hypoplasia, Flat face, Generalized hypotonia, Glossoptosis, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hearing impairment, High forehead, Hip dislocation, Hydrocephalus, Hydronephrosis, Hypergonadotropic hypogonadism, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the vagina, Hypoplastic cervical vertebrae, Hypoplastic iliac wing, Hypoplastic inferior ilia, Hypoplastic scapulae, Hypospadias, Kyphoscoliosis, Laryngomalacia, Low-set ears, Macrocephaly, Male hypogonadism, Male infertility, Male pseudohermaphroditism, Micrognathia, Micropenis, Narrow chest, Neonatal respiratory distress, Neonatal short-limb short stature, Osteoporosis, Polycystic ovaries, Polyhydramnios, Poorly ossified cervical vertebrae, Primary amenorrhea, Proptosis, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Scrotal hypoplasia, Sex reversal, Short neck, Short palpebral fissure, Short stature, Shortening of all phalanges of fingers, Shortening of all phalanges of the toes, Skin dimples, Small abnormally formed scapulae, Small face, Sparse axillary hair, Sparse pubic hair, Streak ovary, Talipes equinovarus, Testicular dysgenesis, Thin ribs, Thoracic hypoplasia, Tibial bowing, Tracheobronchomalacia, True hermaphroditism, Upper airway obstruction, Urogenital sinus anomaly, Vanishing testis, Wide anterior fontanel
vRG	FABP5	1.777156825	0	Transport/cargo protein	Eurexp|euxassay_002194|axial skeleton, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lobe, molar, naris, thoracic, thymus primordium, trigeminal V, vagus X, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|605168
vRG	TMEM132B	1.775153736	0	Integral membrane protein		
vRG	GULP1	1.74790768	0	Adapter molecule	BrainSpLMD|51454	OMIM|608165
vRG	CLU	1.731824764	0	Complement protein	BrainSpLMD|1191;BrainSpMouseDev|12543	OMIM|185430
vRG	ITGA2	1.731146333	0	Cell surface receptor	BrainSpLMD|3673;Eurexp|euxassay_009582|medulla	OMIM|192974;HPO|3673|Autosomal dominant inheritance, Bruising susceptibility, Congenital onset, Thrombocytopenia
vRG	FABP5P7	1.721999531	0			
vRG	ID4	1.69981996	0	Transcription regulatory protein	BrainSpLMD|3400;BrainSpMouseDev|15677	OMIM|600581
vRG	CREB5	1.669169082	0	Transcription factor	BrainSpLMD|9586;Eurexp|euxassay_016386|axial skeleton, oral epithelium	
vRG	PEA15	1.660543341	0	Transport/cargo protein	BrainSpLMD|8682;Eurexp|euxassay_011580|neural retina, ventral grey horn, ventricular layer	OMIM|603434
vRG	PAX6	1.635181696	0	Transcription factor	BrainSpLMD|5080;BrainSpMouseDev|18274	SFARI||Autism, No category;OMIM|607108;HPO|5080|Abnormal best corrected visual acuity test, Abnormality of movement, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the vagina, Abnormality of vision, Amblyopia, Aniridia, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the macula, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Cerebellar hypoplasia, Chorioretinal coloboma, Congenital glaucoma, Congenital nystagmus, Contiguous gene syndrome, Corneal opacity, Cryptorchidism, Displacement of the external urethral meatus, EEG abnormality, Everted lower lip vermilion, Generalized hyperpigmentation, Glaucoma, Global developmental delay, Hearing abnormality, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Hypoplasia of the iris, Hypospadias, Intellectual disability, Keratitis, Mask-like facies, Microcephaly, Micrognathia, Motor delay, Muscular hypotonia, Nephroblastoma, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Optic disc hypoplasia, Optic nerve aplasia, Optic nerve coloboma, Optic nerve hypoplasia, Peripheral vitreous opacities, Peters anomaly, Postural tremor, Presenile cataracts, Pseudopapilledema, Ptosis, Reduced visual acuity, Retinal detachment, Scanning speech, Short stature, Slurred speech, Somatic mutation, Strabismus, Streak ovary, Visual impairment, Visual loss
vRG	NBPF14	1.619416459	0	Unclassified		OMIM|614003
vRG	ATP1A2	1.618778978	0	ATPase	BrainSpLMD|477;Eurexp|euxassay_001505|brain, cervical, cervico-thoracic, cochlea, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mesenchyme, naris, neural retina, spinal cord, stroma, thoracic, tongue, trigeminal V, turbinate bones, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|62830	OMIM|182340;HPO|477|Abnormality of movement, Aphasia, Apraxia, Ataxia, Autosomal dominant inheritance, Blurred vision, Choreoathetosis, Coma, Confusion, Diplopia, Drowsiness, Dysarthria, Dysphasia, Dystonia, Episodic ataxia, Episodic hemiplegia, Episodic quadriplegia, Fever, Generalized tonic-clonic seizures, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Heterogeneous, Incomplete penetrance, Intellectual disability, Mental deterioration, Migraine with aura, Nystagmus, Seizures, Transient unilateral blurring of vision, Vertigo
vRG	ZFP36L1	1.599925216	0	Transcription factor	BrainSpLMD|677;Eurexp|euxassay_007310|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|11978	OMIM|601064
vRG	FABP7	1.596594758	0	Transport/cargo protein	BrainSpLMD|2173;Eurexp|euxassay_000474|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, rest of cerebellum, trigeminal V, ventral grey horn, ventricular layer	SFARI||Autism, 6 - Evidence does not support role;OMIM|602965
vRG	BCAN	1.542661464	0	Adhesion molecule	BrainSpLMD|63827;Eurexp|euxassay_018187|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|11818	OMIM|600347
vRG	VIM	1.533995736	0	Cytoskeletal protein	BrainSpLMD|7431	OMIM|193060;HPO|7431|Autosomal dominant inheritance, Congenital onset, Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract
vRG	ITGB8	1.514696128	0	Cell surface receptor	BrainSpLMD|3696;Eurexp|euxassay_011385|axial skeleton, brachial plexus, nasal cavity, optic chiasma, optic nerve, phalanx, submandibular gland primordium, testis, valve, ventricular layer, vibrissa;BrainSpMouseDev|107845	OMIM|604160
vRG	PTPRZ1	1.508905905	0	Receptor tyrosine phosphatase	BrainSpLMD|5803;BrainSpMouseDev|19046	OMIM|176891
vRG	LTBP1	1.470297076	0	Extracellular matrix protein	BrainSpLMD|4052	OMIM|150390
vRG	SEMA5A	1.467751283	0	Unclassified	BrainSpLMD|9037;BrainSpMouseDev|20119	SFARI||Autism, 3 - Suggestive evidence;OMIM|609297;HPO|9037|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
vRG	DDAH1	1.453666075	0	Enzyme: Hydrolase	BrainSpLMD|23576;Eurexp|euxassay_003952|mantle layer, ventral grey horn, ventricular layer	OMIM|604743
vRG	AXL	1.444610342	0	Receptor tyrosine kinase	BrainSpLMD|558;Eurexp|euxassay_001756|cardiovascular system, gland, head mesenchyme, integumental system, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|26110	OMIM|109135;HPO|558|Autosomal dominant inheritance, Autosomal recessive inheritance, Cryptorchidism, Decreased testicular size, Gynecomastia, Hypogonadotrophic hypogonadism, Micropenis, Primary amenorrhea, Sparse axillary hair, Sparse pubic hair
vRG	PON2	1.435178197	0	Enzyme: Esterase	BrainSpLMD|5445	OMIM|602447;HPO|5445|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
vRG	SLITRK2	1.415768087	0	Integral membrane protein	BrainSpLMD|84631;Eurexp|euxassay_012159|dorsal root ganglion, facial VII, glossopharyngeal IX, marginal layer, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|300561
vRG	DBI	1.398743446	0	Ligand	BrainSpLMD|1622;BrainSpMouseDev|12947	OMIM|125950
vRG	INTU	1.377875642	0	Unclassified	BrainSpLMD|27152	OMIM|610621
vRG	AC253572.1	1.353931352	0			
vRG	NFE2L2	1.326652795	0	Transcription factor	BrainSpLMD|4780;Eurexp|euxassay_018087|larynx, midgut, rectum, stomach, submandibular gland primordium, thyroid, trachea;BrainSpMouseDev|17791	OMIM|600492;COSMIC||NSCLC, HNSCC
vRG	GPR98	1.313666412	0			
vRG	HMGN3	1.252671289	0	DNA binding protein	BrainSpLMD|9324;Eurexp|euxassay_010528|lens, olfactory;BrainSpMouseDev|60980	OMIM|604502
vRG	NOTCH3	1.247653531	0	Cell surface receptor	BrainSpLMD|4854;BrainSpMouseDev|17898	OMIM|600276;HPO|4854|Abnormal electroretinogram, Abnormal form of the vertebral bodies, Abnormality of the hair, Abnormality of the metaphysis, Abnormality of the middle ear ossicles, Abnormality of the musculature, Abnormality of the rib cage, Abnormality of the skin, Abnormality of the skull, Abnormality of the thorax, Abnormality of visual evoked potentials, Adult onset, Amaurosis fugax, Aphasia, Arachnoid cyst, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Autosomal dominant inheritance, Biconcave vertebral bodies, Bone cyst, Cerebral cortical atrophy, Cerebral ischemia, Chondrocalcinosis, Coarse hair, Coma, Conductive hearing impairment, Confusion, Cranial nerve paralysis, Craniofacial hyperostosis, Cryptorchidism, Dementia, Dental crowding, Depressivity, Developmental regression, Dolichocephaly, Downslanted palpebral fissures, Dural ectasia, EEG abnormality, Elevated serum creatine phosphokinase, Fever, Gait disturbance, Generalized hypotonia, Gingival fibromatosis, Hemiplegia, High palate, High, narrow palate, Hypertelorism, Impaired pain sensation, Inguinal hernia, Joint hyperflexibility, Joint hypermobility, Kyphosis, Leukoencephalopathy, Long philtrum, Low posterior hairline, Low-set ears, Malar flattening, Memory impairment, Meningocele, Micrognathia, Migraine, Motor delay, Narrow face, Neoplasm of the lung, Neoplasm of the skin, Nonarteritic anterior ischemic optic neuropathy, Patent ductus arteriosus, Pectus excavatum, Platybasia, Posteriorly rotated ears, Prominent metopic ridge, Pseudobulbar paralysis, Ptosis, Recurrent subcortical infarcts, Retinal arteriolar tortuosity, Sclerosis of skull base, Scoliosis, Seizures, Sensory neuropathy, Short nasal bridge, Short neck, Short stature, Smooth philtrum, Spasticity, Stroke, Subcortical dementia, Subcutaneous nodule, Syringomyelia, Umbilical hernia, Urinary incontinence, Varicose veins, Vertebral fusion, Visual impairment, Wormian bones
vRG	ETV5	1.229428995	0	Transcription regulatory protein	BrainSpLMD|2119;Eurexp|euxassay_000518|calyces, cranium, incisor, lung, otic capsule, submandibular gland primordium, testis, turbinate bones, ventricular layer;BrainSpMouseDev|68321	OMIM|601600;COSMIC||prostate
vRG	COL11A1	1.20441823	0	Extracellular matrix protein	BrainSpLMD|1301;Eurexp|euxassay_004200|axial skeleton, clavicle, cranium, femur, fibula, footplate, handplate, humerus, hyoid bone, mandible, nasal septum, otic capsule, palatal shelf, pelvic girdle, radius, rib, sternum, tibia, turbinate bones, ulna;BrainSpMouseDev|12597	OMIM|120280;HPO|1301|Abnormal diaphysis morphology, Abnormal form of the vertebral bodies, Abnormality of the dentition, Abnormality of the metaphysis, Abnormality of the pinna, Abnormality of the vitreous humor, Absent frontal sinuses, Amblyopia, Anterior rib cupping, Anteverted nares, Arachnodactyly, Arthralgia, Arthropathy, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bifid uvula, Brachycephaly, Brachydactyly, Broad ischia, Broad long bones, Broad ribs, Calcification of falx cerebri, Camptodactyly, Cataract, Cerebral calcification, Cleft palate, Clinodactyly of the 5th finger, Congenital cataract, Corneal opacity, Coxa valga, Depressed nasal bridge, Downslanted palpebral fissures, Dumbbell-shaped long bone, Ectopia lentis, Epicanthus, Epiphyseal dysplasia, Esotropia, Femoral bowing, Fibular hypoplasia, Flat face, Frontal bossing, Genu valgum, Glaucoma, Glossoptosis, Hearing abnormality, Hydrops fetalis, Hypertelorism, Hypohidrosis, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hypoplastic fingernail, Hypoplastic frontal sinuses, Hypoplastic ilia, Hypoplastic ischia, Hypoplastic scapulae, Hypoplastic toenails, Hypotrichosis, Irregular distal femoral epiphysis, Irregular proximal tibial epiphyses, Irregular vertebral endplates, Joint contracture of the hand, Joint hyperflexibility, Joint hypermobility, Lens luxation, Long clavicles, Long fingers, Long philtrum, Low-set ears, Macrodontia of permanent maxillary central incisor, Malar flattening, Megalocornea, Meningeal calcification, Micrognathia, Micromelia, Midface retrusion, Myopia, Narrow chest, Narrow greater sacrosciatic notches, Narrow mouth, Omphalocele, Osteoarthritis, Patent foramen ovale, Pierre-Robin sequence, Platyspondyly, Posterior rib cupping, Posterior vertebral hypoplasia, Premature birth, Proptosis, Protuberant abdomen, Radial bowing, Respiratory insufficiency, Retinal detachment, Retinopathy, Rhizomelia, Round face, Sensorineural hearing impairment, Severe Myopia, Short femur, Short foot, Short long bone, Short neck, Short nose, Short palm, Short ribs, Short stature, Small distal femoral epiphysis, Small hand, Small proximal tibial epiphyses, Spondyloepiphyseal dysplasia, Stillbirth, Thick lower lip vermilion, Thick upper lip vermilion, Thickened calvaria, Thin clavicles, Thin ribs, Thoracic hypoplasia, Ulnar bowing, Upper airway obstruction, Visual impairment, Vitreoretinal degeneration, Wide anterior fontanel, Wide nasal bridge, Wide tufts of distal phalanges, Widely patent coronal suture, Widely patent sagittal suture
vRG	TTYH1	1.161880607	0	Ion channel	BrainSpLMD|57348;Eurexp|euxassay_018316|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|37048	OMIM|605784
vRG	SOX2	1.149415787	0	Transcription factor	Eurexp|euxassay_019525|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lung, mantle layer, medulla, midgut, neural retina, oesophagus, olfactory, oral epithelium, pituitary, saccule, stomach, testis, trachea, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|20436	OMIM|184429;COSMIC||NSCLC, oesophageal squamous carcinoma, Microphthalmia and oesophageal atresia syndrome;HPO|6657|Agenesis of corpus callosum, Anophthalmia, Anterior pituitary hypoplasia, Autosomal dominant inheritance, Butterfly vertebrae, Cleft palate, Coloboma, Cryptorchidism, Esophageal atresia, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hemivertebrae, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypospadias, Hypothalamic hamartoma, Microcephaly, Micropenis, Microphthalmia, Missing ribs, Nystagmus, Optic nerve hypoplasia, Patent ductus arteriosus, Postnatal growth retardation, Rib fusion, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Short stature, Spastic diplegia, Spastic tetraplegia, Specific learning disability, Strabismus, Supernumerary ribs, Tracheoesophageal fistula, Ventricular septal defect, Vertebral fusion, Vertebral hypoplasia, Visual impairment, Visual loss
vRG	CNN3	1.13007063	0	Cytoskeletal associated protein	BrainSpLMD|1266;Eurexp|euxassay_009765|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|602374
vRG	ZFHX4	1.104899237	0	Transcription factor	BrainSpLMD|79776;Eurexp|euxassay_005820|epidermis, mantle layer, nasal septum, urethra;BrainSpMouseDev|56662	OMIM|606940;HPO|79776|Autosomal dominant inheritance, Congenital ptosis
vRG	AASS	1.094069149	0	Enzyme: Oxidoreductase;Enzyme: Synthase	BrainSpLMD|10157	OMIM|605113;HPO|10157|Abnormality of the genitourinary system, Anemia, Autosomal recessive inheritance, Cognitive impairment, Delayed speech and language development, EEG abnormality, Ectopia lentis, Histidinuria, Hyperactivity, Hyperlysinemia, Hyperlysinuria, Infantile onset, Intellectual disability, Intellectual disability, mild, Muscular hypotonia, Phenotypic variability, Seizures, Short attention span, Short stature, Spastic diplegia
vRG	FSTL1	1.055597585	0	Protease inhibitor	Eurexp|euxassay_003685|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail;BrainSpMouseDev|14090	OMIM|605547
vRG	HMGCS1	1.049277322	0	Enzyme: Synthase	BrainSpLMD|3157	OMIM|142940
vRG	C1orf61	1.030714706	0	Transcription regulatory protein	BrainSpLMD|10485	
vRG	PPP1CB	0.640417433	0	Serine/threonine phosphatase	BrainSpLMD|5500	OMIM|600590;HPO|5500|Arnold-Chiari type I malformation, Autosomal dominant inheritance, Broad neck, Cafe-au-lait spot, Coarctation of aorta, Craniosynostosis, Cryptorchidism, Dandy-Walker malformation, Delayed skeletal maturation, Delayed speech and language development, Dermal translucency, Downslanted palpebral fissures, Failure to thrive, Freckling, Generalized hypotonia, Global developmental delay, High palate, Hypertelorism, Joint hypermobility, Low-set ears, Mitral regurgitation, Optic nerve hypoplasia, Overfolded helix, Patent ductus arteriosus, Patent foramen ovale, Peripheral pulmonary artery stenosis, Posteriorly rotated ears, Prominent forehead, Pulmonic stenosis, Right bundle branch block, Short neck, Short stature, Slow-growing hair, Sparse hair, Thickened helices, Ventricular septal defect, Webbed neck
vRG	NFIA	0.604012019	0	Transcription factor	BrainSpLMD|4774;BrainSpMouseDev|17794	SFARI||Autism, 4 - Minimal evidence;OMIM|600727;HPO|4774|Agenesis of corpus callosum, Anteverted nares, Arnold-Chiari type I malformation, Broad face, Broad forehead, Cognitive impairment, Cutis marmorata, Generalized hypotonia, Global developmental delay, Hydronephrosis, Hypoplasia of the corpus callosum, Inguinal hernia, Intellectual disability, Low-set ears, Macrocephaly, Narrow mouth, Phenotypic variability, Renal hypoplasia, Seizures, Short chin, Short nose, Sporadic, Syringomyelia, Thin upper lip vermilion, Ventriculomegaly, Vesicoureteral reflux
vRG	IQGAP2	1.81995367	1.11E-16	GTPase activating protein	BrainSpLMD|10788;Eurexp|euxassay_013405|adrenal gland, incisor, intervertebral disc, lobe, mandible, mesenchyme, metanephros, midgut, oesophagus, skeletal muscle, stomach, thymus primordium, ventricular layer, vertebral axis muscle system, vertebral cartilage condensation	OMIM|605401
vRG	ANKRD20A3	1.446790029	1.11E-16	Unclassified		
vRG	TKTL1	2.60188572	2.22E-16	Enzyme: Transketolase	BrainSpLMD|8277	OMIM|300044
vRG	GATM	1.627797557	2.22E-16	Enzyme: Amidinotransferase	BrainSpLMD|2628;Eurexp|euxassay_005674|diaphragm, footplate, frenulum, handplate, lower leg, paraxial mesenchyme, shoulder, skeletal muscle, upper arm, upper leg, vertebral axis muscle system	SFARI||Autism, No category;OMIM|602360;HPO|2628|Abnormality of creatine metabolism, Autism, Autosomal recessive inheritance, Delayed speech and language development, Failure to thrive, Global developmental delay, Infantile onset, Intellectual disability, Organic aciduria
vRG	AKAP12	1.144307557	2.22E-16	Anchor protein	BrainSpLMD|9590	OMIM|604698
vRG	SAT1	0.993993374	2.22E-16	Enzyme: Acyltransferase	BrainSpLMD|6303;Eurexp|euxassay_018693|bladder, incisor, metanephros, olfactory, urethra, vibrissa	OMIM|313020;HPO|6303|Blepharitis, Conjunctivitis, Corneal dystrophy, Dry skin, Dystrophic fingernails, Ectropion, Facial erythema, Follicular hyperkeratosis, Folliculitis, Heterogeneous, Keratitis, Nail dysplasia, Palmoplantar keratoderma, Perifollicular fibrosis, Photophobia, Scarring alopecia of scalp, Sparse and thin eyebrow, Sparse eyelashes, X-linked recessive inheritance
vRG	LHX2	1.351987385	3.33E-16	Transcription regulatory protein	BrainSpLMD|9355;BrainSpMouseDev|16641	OMIM|603759
vRG	EFNB2	1.058082048	4.44E-16	Membrane bound ligand	BrainSpLMD|1948;Eurexp|euxassay_018950|bladder, incisor, lung, mantle layer, mesenchyme, metanephros, molar, oesophagus, pericardium, submandibular gland primordium, urethra, ventricular layer, vibrissa;BrainSpMouseDev|13420	OMIM|600527
vRG	COL4A6	2.326762998	7.77E-16	Extracellular matrix protein	BrainSpLMD|1288;Eurexp|euxassay_009999|associated mesenchyme, basioccipital bone, clavicle, femur, fibula, humerus, lens, mandible, maxilla, meninges, nasal septum, orbito-sphenoid, otic capsule, petrous part, phalanx, renal/urinary system, rib, submandibular gland primordium, tibia, trunk mesenchyme, turbinate bones, vault of skull	OMIM|303631;HPO|1288|Cochlear malformation, Hearing impairment, X-linked recessive inheritance
vRG	LRP4	2.000948999	1.11E-15	Cell surface receptor	Eurexp|euxassay_011129|alar columns, epithelium, glomeruli, incisor, mantle layer, molar, olfactory, ventricular layer, vibrissa	OMIM|604270;HPO|4038|2-3 finger syndactyly, Abnormal cortical bone morphology, Abnormality of the nose, Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital onset, Craniofacial hyperostosis, Curved distal phalanges of the hand, Cutaneous finger syndactyly, Diaphyseal thickening, Difficulty walking, Downslanted palpebral fissures, Facial palsy, Feeding difficulties, Fingernail dysplasia, Frontal bossing, Hearing impairment, Hypertelorism, Hypoplasia of the radius, Hypoplasia of the ulna, Hyporeflexia, Increased bone mineral density, Macrocephaly, Mandibular prognathia, Micrognathia, Nail dysplasia, Prominent forehead, Ptosis, Renal agenesis, Renal hypoplasia, Sensorineural hearing impairment, Short finger, Syndactyly, Tall stature
vRG	NPAS3	1.33009837	1.11E-15	Transcription factor	BrainSpLMD|64067;Eurexp|euxassay_009424|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|27131	OMIM|609430
vRG	LGALS3	2.020792167	3.11E-15	Transcription regulatory protein	BrainSpLMD|3958	OMIM|153619
vRG	MLC1	1.830792001	3.11E-15	Membrane transport protein	BrainSpLMD|23209;Eurexp|euxassay_010374|ventricular layer	OMIM|605908;HPO|23209|Ataxia, Autosomal recessive inheritance, Diffuse spongiform leukoencephalopathy, Diffuse swelling of cerebral white matter, Infantile onset, Intellectual disability, mild, Macrocephaly, Megalencephaly, Motor delay, Seizures, Spasticity
vRG	CD99	1.424893686	3.44E-15	Unclassified		OMIM|450000
vRG	FAM171B	0.81878295	1.10E-14	Integral membrane protein	BrainSpLMD|165215;Eurexp|euxassay_008581|dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, ventricular layer, vestibulocochlear VIII	
vRG	MSMO1	1.051051199	1.55E-14	Unclassified	BrainSpLMD|6307;Eurexp|euxassay_000744|Meckel's cartilage, adrenal gland, calyces, chondrocranium, dorsal root ganglion, facial VII, foregut-midgut junction, hindgut, incisor, inferior, lobe, mesenchyme, midgut, molar, olfactory, stomach, superior, testis, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|607545;HPO|6307|Arthralgia, Autosomal recessive inheritance, Blepharitis, Congenital cataract, Decreased circulating low-density lipoprotein levels, Delayed puberty, Delayed skeletal maturation, Failure to thrive, Global developmental delay, Hypocholesterolemia, Ichthyosis, Intellectual disability, mild, Microcephaly, Psoriasiform dermatitis, Short stature
vRG	CCND2	0.455542231	1.57E-14	Cell cycle control protein	BrainSpLMD|894	OMIM|123833;COSMIC||NHL, CLL;HPO|894|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Congenital onset, Depressed nasal bridge, Global developmental delay, High forehead, Hydrocephalus, Hypertelorism, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Prominent forehead, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
vRG	CARHSP1	1.378447058	2.23E-14	Calcium binding protein	BrainSpLMD|23589	OMIM|616885
vRG	LRRC3B	2.053144402	2.72E-14	Unclassified	BrainSpLMD|116135	
vRG	AIF1L	2.060684006	3.47E-14	Calcium binding protein	BrainSpLMD|83543;Eurexp|euxassay_002250|basisphenoid bone, orbito-sphenoid, turbinate, ventricular layer	
vRG	FKBP10	1.005002025	3.49E-14	Unclassified	BrainSpLMD|60681	OMIM|607063;HPO|60681|Abnormality of the skin, Ankle contracture, Aplasia/Hypoplasia of the patella, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Biconcave vertebral bodies, Blue sclerae, Brachycephaly, Coxa vara, Dentinogenesis imperfecta, Elbow flexion contracture, Elevated alkaline phosphatase, Gait disturbance, Hip contracture, Increased susceptibility to fractures, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Protrusio acetabuli, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes, Talipes equinovarus, Triangular face, Vertebral compression fractures, Vertebral wedging, Wormian bones
vRG	BMP7	2.153698197	3.61E-14	Ligand	BrainSpLMD|655;BrainSpMouseDev|11948	OMIM|112267
vRG	SCRN1	1.003558524	3.61E-14	Protease	BrainSpLMD|9805;Eurexp|euxassay_012592|cervical, cervico-thoracic, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, penis, thoracic, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII	OMIM|614965
vRG	NBPF10	1.202576334	4.59E-14			OMIM|614000
vRG	DOK5	1.412080845	9.00E-14	Adapter molecule	BrainSpLMD|55816	OMIM|608334
vRG	GFAP	2.243288305	1.12E-13	Structural protein	BrainSpLMD|2670;BrainSpMouseDev|14356	OMIM|137780;HPO|2670|Ataxia, Autosomal dominant inheritance, Bulbar signs, Developmental regression, Diffuse demyelination of the cerebral white matter, Hydrocephalus, Increased CSF protein, Infantile onset, Progressive macrocephaly, Seizures, Spasticity
vRG	QKI	0.977484365	1.28E-13	RNA binding protein	BrainSpLMD|9444;Eurexp|euxassay_012259|diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, lens, lung, mandible, mantle layer, marginal layer, maxilla, meninges, midgut, neural retina, orbito-sphenoid, petrous part, skeletal muscle, stomach, submandibular gland primordium, turbinate, vault of skull, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|609590;COSMIC||angiocentric glioma, colorectal cancer
vRG	PDLIM3	1.528853036	1.45E-13	Unclassified	BrainSpLMD|27295	OMIM|605889
vRG	MYO10	0.801767568	1.60E-13	Motor protein	BrainSpLMD|4651;Eurexp|euxassay_009373|mantle layer, marginal layer, thymus primordium, trigeminal V, ventricular layer	OMIM|601481
vRG	CPT1A	1.542782037	1.73E-13	Enzyme: Palmitoyltransferase	BrainSpLMD|1374;Eurexp|euxassay_017982|adrenal gland, bladder, choroid plexus, dorsal root ganglion, glossopharyngeal IX, hindgut, intermediate grey horn, mantle layer, meninges, metanephros, midgut, pancreas, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|600528;HPO|1374|Arrhythmia, Autosomal recessive inheritance, Behavioral abnormality, Cardiomegaly, Coma, Diarrhea, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Fatigue, Feeding difficulties in infancy, Generalized hypotonia, Hemiplegia/hemiparesis, Hepatic failure, Hepatic steatosis, Hepatomegaly, Hyperammonemia, Hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Loss of consciousness, Muscular hypotonia, Neurological speech impairment, Prenatal maternal abnormality, Recurrent encephalopathy, Reduced tendon reflexes, Renal tubular acidosis, Seizures, Skeletal muscle atrophy, Transient hyperlipidemia
vRG	CDO1	1.385108102	1.81E-13	Enzyme: Oxidoreductase	BrainSpLMD|1036	OMIM|603943
vRG	PLCE1	1.203242375	1.98E-13	Guanine nucleotide exchange factor	BrainSpLMD|51196;Eurexp|euxassay_014545|floor plate, floorplate	OMIM|608414;HPO|51196|Autosomal recessive inheritance, Childhood onset, Diffuse mesangial sclerosis, Edema, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Progressive, Proteinuria, Stage 5 chronic kidney disease
vRG	LAMA1	1.81203242	3.64E-13	Extracellular matrix protein	BrainSpLMD|284217;Eurexp|euxassay_011017|epithelium, glomeruli, lens, meninges, renal/urinary system, ventricular layer;BrainSpMouseDev|16544	SFARI||Autism, 4 - Minimal evidence;OMIM|150320;HPO|284217|Abnormality of the periventricular white matter, Amblyopia, Autosomal recessive inheritance, Cerebellar cyst, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Delayed speech and language development, Dilated fourth ventricle, Motor delay, Myopia, Nystagmus, Oculomotor apraxia, Retinal atrophy, Retinal dystrophy, Retinal thinning, Strabismus, Variable expressivity
vRG	FOS	0.87801485	4.12E-13	Transcription factor	BrainSpLMD|2353;Eurexp|euxassay_012634|mandible, maxilla;BrainSpMouseDev|14058	OMIM|164810;HPO|2353|Abnormality of skin pigmentation, Acanthosis nigricans, Accelerated skeletal maturation, Bone cyst, Broad foot, Diabetes mellitus, Generalized hirsutism, Growth hormone excess, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hyperinsulinemia, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Insulin resistance, Intellectual disability, Large hands, Lipoatrophy, Mandibular prognathia, Precocious puberty, Prominent supraorbital ridges, Skeletal muscle hypertrophy
vRG	TRIM9	1.236681323	4.31E-13	Unclassified	BrainSpLMD|114088;Eurexp|euxassay_010509|mantle layer, molar, ventricular layer	OMIM|606555
vRG	SCD	1.13228329	5.50E-13	Enzyme: Oxidoreductase	BrainSpLMD|6319;Eurexp|euxassay_012236|adrenal gland, axial skeleton, basal columns, cervico-thoracic, clavicle, dorsal root ganglion, ductus deferens, embryo, facial VII, glossopharyngeal IX, hindgut, incisor, larynx, lens, lobe, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, neural retina, nucleus pulposus, orbito-sphenoid, otic capsule, pancreas, petrous part, pharyngo-tympanic tube, pituitary, rectum, rib, skeletal muscle, stomach, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, turbinate, urethra, vagus X, vault of skull, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|604031
vRG	NOTCH1	1.973354054	5.61E-13	Cell surface receptor	BrainSpLMD|4851;Eurexp|euxassay_018738|cochlea, cornea, cortex, epidermis, epithelium, incisor, left lung, molar, olfactory, rest of skin, retina, right lung, submandibular gland primordium, thymus primordium, utricle, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|17895	OMIM|190198;COSMIC||T-ALL, breast, bladder, skin SCC, lung SCC, head and neck SCC;HPO|4851|Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis, Aplasia cutis congenita, Autosomal dominant inheritance, Bicuspid aortic valve, Brachydactyly, Calvarial skull defect, Cataract, Cavernous hemangioma, Coarctation of aorta, Cutis marmorata, Cutis marmorata telangiectatica congenita, Dilatation of the aortic arch, Dystrophic toenail, Failure to thrive, Finger syndactyly, Heart murmur, Hydrocephalus, Hypertension, Microphthalmia, Phenotypic variability, Pulmonary arterial hypertension, Pulmonary artery atresia, Pulmonic stenosis, Right ventricular hypertrophy, Short distal phalanx of finger, Sparse hair, Split hand, Strabismus, Syndactyly, Talipes, Tetralogy of Fallot, Thoracic aorta calcification
vRG	PHLDA1	1.015845688	9.56E-13	Transcription factor	BrainSpLMD|22822;Eurexp|euxassay_008411|anterior, axial skeleton, bladder, cartilaginous ring, cornea, diaphragm, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, hepatic duct, hindgut, incisor, inner ear, left lung, liver, mantle layer, medulla, meninges, metanephros, midgut, molar, naso-lacrimal duct, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, right lung, skeletal muscle, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, tongue, trigeminal V, ureter, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|605335
vRG	NBPF9	0.467616661	9.94E-13	Unclassified		OMIM|613999
vRG	FZD8	1.326472766	2.29E-12	G protein coupled receptor	BrainSpLMD|8325;BrainSpMouseDev|14146	OMIM|606146
vRG	ETV1	1.365414895	2.72E-12	Transcription factor	BrainSpLMD|2115;BrainSpMouseDev|13786	OMIM|600541;COSMIC||Ewing sarcoma, prostate
vRG	FAM219A	1.71893047	3.30E-12	Unclassified	BrainSpLMD|203259	
vRG	EZR	0.896063565	4.28E-12	Anchor protein	BrainSpLMD|7430;Eurexp|euxassay_018306|axial skeleton, calyces, choroid plexus, cochlea, dorsal root ganglion, epidermis, epithelium, fundus region, hindgut, incisor, larynx, lens, lobe, lung, marginal layer, midgut, molar, oesophagus, oral epithelium, pelvis, penis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, rib, saccule, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricle, ventricular layer, vibrissa	OMIM|123900;COSMIC||NSCLC
vRG	FBN2	1.581014361	4.91E-12	Structural protein	BrainSpLMD|2201;Eurexp|euxassay_008110|lung, mesenchyme	OMIM|612570;HPO|2201|Abnormally folded helix, Adducted thumb, Aortic root dilatation, Arachnodactyly, Arthrogryposis multiplex congenita, Atrial septal defect, Autosomal dominant inheritance, Bicuspid aortic valve, Brachycephaly, Calf muscle hypoplasia, Camptodactyly of finger, Congenital kyphoscoliosis, Crumpled ear, Disproportionate tall stature, Distal arthrogryposis, Ectopia lentis, Frontal bossing, High palate, Joint stiffness, Macular degeneration, Metatarsus adductus, Mitral regurgitation, Mitral valve prolapse, Motor delay, Myopia, Osteopenia, Patellar dislocation, Patellar subluxation, Patent ductus arteriosus, Pectus carinatum, Reduced visual acuity, Scaphocephaly, Short neck, Slender build, Ulnar deviation of finger, Ventricular septal defect, Visual impairment
vRG	CTNNB1	0.59214565	5.43E-12	Adhesion molecule	BrainSpLMD|1499;BrainSpMouseDev|12172	SFARI||Autism, 3 - Suggestive evidence;OMIM|116806;COSMIC||colorectal, ovarian, hepatoblastoma, pleomorphic salivary gland adenoma, other tumour types;HPO|1499|Abdominal pain, Abnormal hypothalamus morphology, Abnormal visual field test, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Autosomal dominant inheritance, Autosomal recessive inheritance, Bitemporal hemianopia, Breast carcinoma, Central adrenal insufficiency, Central diabetes insipidus, Cerebral calcification, Desmoid tumors, Dysgerminoma, Elevated alpha-fetoprotein, Enlarged pituitary gland, Epigastric pain, Excessive daytime somnolence, Fatigue, Generalized hypotonia, Global developmental delay, Headache, Hepatic fibrosis, Hepatic necrosis, Hepatocellular carcinoma, Hepatomegaly, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hypogonadotrophic hypogonadism, Hypoplasia of the corpus callosum, Incomplete penetrance, Infantile onset, Intellectual disability, Intestinal polyposis, Intracranial cystic lesion, Long philtrum, Malabsorption, Medulloblastoma, Microcephaly, Micronodular cirrhosis, Myalgia, Nausea and vomiting, Neoplasm of the anterior pituitary, Neoplasm of the stomach, Neurological speech impairment, Obesity, Ovarian papillary adenocarcinoma, Papilledema, Pilomatrixoma, Pituitary hypothyroidism, Portal vein thrombosis, Progressive visual field defects, Prolactin excess, Renal cell carcinoma, Slow decrease in visual acuity, Somatic mutation, Spastic diplegia, Strabismus, Subacute progressive viral hepatitis, Subcutaneous nodule, Thin upper lip vermilion, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Vomiting
vRG	STOX1	2.078907274	5.56E-12	DNA binding protein	BrainSpLMD|219736	OMIM|609397;HPO|219736|Eclampsia, Polygenic inheritance, Preeclampsia
vRG	TAGLN2	1.40022104	9.39E-12	Unclassified	BrainSpLMD|8407;Eurexp|euxassay_001884|ventricular layer;BrainSpMouseDev|21107	OMIM|604634
vRG	RHOJ	1.893200484	9.61E-12	GTPase	BrainSpLMD|57381;Eurexp|euxassay_002084|alimentary system, cavities and their linings, gland, integumental system, limb, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, tail, vertebral axis muscle system	OMIM|607653
vRG	ZIC5	1.97530736	9.90E-12	DNA binding protein	BrainSpLMD|85416;BrainSpMouseDev|41618	
vRG	ANKRD20A4	1.615367423	1.09E-11	Unclassified		
vRG	SHROOM3	1.868101079	1.30E-11	Adapter molecule	BrainSpLMD|57619;Eurexp|euxassay_012216|cortex, midgut, olfactory, ventricular layer, vertebral axis muscle system	OMIM|604570
vRG	NOG	1.877066678	1.37E-11	Secreted polypeptide	BrainSpLMD|9241;Eurexp|euxassay_009618|axial skeleton, mandible, mantle layer, nasal septum, otic capsule, phalanx, rib, sternum, thyroid, turbinate bones, ventral grey horn;BrainSpMouseDev|17888	OMIM|602991;HPO|9241|2-3 toe syndactyly, Abnormal vertebral morphology, Abnormality of the ankles, Absent distal interphalangeal creases, Absent distal phalanges, Absent fingernail, Absent phalangeal crease, Anonychia, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the nails, Aplastic/hypoplastic toenail, Autosomal dominant inheritance, Brachydactyly, Broad hallux, Broad thumb, Camptodactyly of finger, Carpal synostosis, Clinodactyly, Conductive hearing impairment, Congenital stapes ankylosis, Cubitus valgus, Cutaneous finger syndactyly, Cutaneous syndactyly of toes, Dislocated radial head, Elbow ankylosis, Elbow dislocation, Enlargement of the costochondral junction, Finger syndactyly, Fusion of midphalangeal joints, Hypermetropia, Hypoplastic nasal septum, Hypoplastic spinal processes, Long nose, Low hanging columella, Lower limb undergrowth, Metacarpophalangeal synostosis, Narrow face, Pectus excavatum, Progressive conductive hearing impairment, Progressive fusion 2nd-5th pip joints, Proximal placement of thumb, Proximal symphalangism, Proximal symphalangism of hands, Proximal/middle symphalangism of 5th finger, Radial deviation of finger, Sensorineural hearing impairment, Short 1st metacarpal, Short 5th metacarpal, Short distal phalanx of finger, Short distal phalanx of toe, Short finger, Short foot, Short hallux, Short humerus, Short lower limbs, Short philtrum, Short stature, Short sternum, Single transverse palmar crease, Spinal canal stenosis, Stapes ankylosis, Strabismus, Symphalangism affecting the phalanges of the hand, Synostosis of carpal bones, Tarsal synostosis, Thick upper lip vermilion, Thin upper lip vermilion, Toe syndactyly, Type B brachydactyly, Underdeveloped nasal alae, Waddling gait
vRG	RFX4	1.157562573	1.42E-11	DNA binding protein	BrainSpLMD|5992;Eurexp|euxassay_005798|ventricular layer;BrainSpMouseDev|46978	OMIM|603958
vRG	COL27A1	2.170199483	1.62E-11	Extracellular matrix protein	BrainSpLMD|85301;Eurexp|euxassay_016233|Meckel's cartilage, axial skeleton, clavicle, cricoid, exoccipital bone, femur, fibula, hyoid bone, lung, mesenchyme, metatarsus, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, rib, sternum, temporal bone, thyroid, tibia, trachea, turbinate, vibrissa	OMIM|608461;HPO|85301|Autosomal recessive inheritance, Dislocated radial head, Hypertelorism, Prominent forehead, Scoliosis, Short stature, Wide nasal bridge
vRG	DIO2	1.312048412	1.76E-11	Enzyme: Oxidoreductase	BrainSpLMD|1734	OMIM|601413
vRG	SOAT1	1.112663251	1.89E-11	Enzyme: Acyltransferase	BrainSpLMD|6646;Eurexp|euxassay_004596|adrenal gland, calyces, loop, midgut, stomach, turbinate bones	OMIM|102642
vRG	B3GAT2	1.652713144	3.04E-11	Enzyme: Transferase;Integral membrane protein	BrainSpLMD|135152;BrainSpMouseDev|93607	OMIM|607497
vRG	ZIC2	1.0811755	3.61E-11	Transcription regulatory protein	BrainSpLMD|7546;BrainSpMouseDev|22529	OMIM|603073;HPO|7546|Abnormal facial shape, Autosomal dominant inheritance, Global developmental delay, Holoprosencephaly, Hydrocephalus, Intellectual disability, Microcephaly, Synophrys, Trigonocephaly
vRG	LRIG1	1.282370786	3.74E-11	Cell surface receptor	BrainSpLMD|26018	OMIM|608868
vRG	PARD3B	2.165585628	5.72E-11	Unclassified	BrainSpLMD|117583;Eurexp|euxassay_009412|olfactory, ventricular layer, vomeronasal organ	SFARI||Autism, 3 - Suggestive evidence
vRG	PHACTR2	1.33739855	6.11E-11	Enzyme regulator	BrainSpLMD|9749;Eurexp|euxassay_007706|alimentary system, cardiovascular system, cavities and their linings, choroid invagination, choroid plexus, gland, integumental system, limb, mesenchyme, renal/urinary system, reproductive system, respiratory system, roof plate, sensory organ, tail, ventricular layer, vertebral axis muscle system	OMIM|608724
vRG	VEPH1	1.778947898	6.15E-11	Unclassified	BrainSpLMD|79674	OMIM|609594
vRG	RP11.138A9.2	1.352897023	8.38E-11			
vRG	PDCD4	0.900950746	8.52E-11	Unclassified	BrainSpLMD|27250;Eurexp|euxassay_010730|epidermis, epithelium, floor plate, floorplate, larynx, olfactory, sternum, thymus primordium, urethra, ventricular layer	OMIM|608610
vRG	CA12	1.497523973	1.18E-10	Enzyme: Carbonic anhydrase	BrainSpLMD|771;Eurexp|euxassay_018906|choroid plexus, clavicle, epithelium, incisor, molar, nasal septum, olfactory, oral epithelium, submandibular gland primordium, vibrissa	OMIM|603263;HPO|771|Autosomal dominant inheritance, Autosomal recessive inheritance, Dehydration, Failure to thrive, Feeding difficulties, Hyperkalemia, Hyponatremia, Infantile onset
vRG	ANKRD20A2	1.156996217	1.20E-10	Unclassified		
vRG	DENND1A	1.470722327	1.40E-10	Unclassified	BrainSpLMD|57706	OMIM|613633
vRG	ALDH6A1	1.178232489	1.50E-10	Enzyme: Dehydrogenase	BrainSpLMD|4329;Eurexp|euxassay_018815|choroid invagination, naris, nasal septum, otic capsule, turbinate bones, ventricular layer	OMIM|603178;HPO|4329|Abnormal facial shape, Autosomal recessive inheritance, Bulbous nose, Cataract, Delayed myelination, Depressed nasal bridge, Downslanted palpebral fissures, Dystonia, Epicanthus, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Long philtrum, Metabolic acidosis, Microcephaly, Microphthalmia, Muscular hypotonia, Phenotypic variability, Short nose, Tented upper lip vermilion
vRG	JUND	0.615937721	2.18E-10	Transcription factor	BrainSpLMD|3727;BrainSpMouseDev|16251	OMIM|165162
vRG	S1PR1	1.529674651	2.32E-10	G protein coupled receptor	BrainSpLMD|1901;BrainSpMouseDev|13387	OMIM|601974
vRG	MAST4	1.246322397	2.38E-10	Unclassified	BrainSpLMD|375449;Eurexp|euxassay_011099|mantle layer, marginal layer, thymus primordium, ventral grey horn	
vRG	PLAGL1	1.039643196	4.30E-10	Transcription regulatory protein	BrainSpLMD|5325;BrainSpMouseDev|22391	OMIM|603044;HPO|5325|Abnormality of earlobe, Abnormality of the pancreatic islet cells, Arthrogryposis multiplex congenita, Bilateral ptosis, Cardiomegaly, Contractures of the joints of the lower limbs, Cryptorchidism, Dehydration, Downturned corners of mouth, Failure to thrive, Generalized myoclonic seizures, Gingival overgrowth, Global developmental delay, Glycosuria, Hepatomegaly, High palate, Hyperglycemia, Hypoplastic fingernail, Hypovolemia, Intellectual disability, Intrauterine growth retardation, Ketonuria, Labial hypertrophy, Macroglossia, Micrognathia, Motor delay, Neonatal insulin-dependent diabetes mellitus, Neonatal respiratory distress, Oligohydramnios, Postnatal growth retardation, Precocious puberty, Prominent metopic ridge, Prominent nose, Prominent occiput, Retrognathia, Shallow orbits, Small anterior fontanelle, Transient neonatal diabetes mellitus, Umbilical hernia, Ventricular septal defect, Weight loss
vRG	LPCAT1	2.320116913	4.40E-10	Enzyme: Acyltransferase	BrainSpLMD|79888	OMIM|610472
vRG	BICC1	0.432961789	4.92E-10	RNA binding protein	BrainSpLMD|80114	OMIM|614295
vRG	LRRC17	1.235596232	5.26E-10	Unclassified	BrainSpLMD|10234	
vRG	SLC35F1	1.011568407	5.46E-10	Integral membrane protein	Eurexp|euxassay_019705|dorsal root ganglion, embryo, glossopharyngeal IX, intermediate grey horn, mantle layer, rest of cerebellum, trigeminal V, ventral grey horn, ventricular layer	
vRG	CH17.449C21.1	0.541696334	5.99E-10			
vRG	MSI2	0.661869293	6.19E-10	RNA binding protein	BrainSpLMD|124540	OMIM|607897;COSMIC||CML
vRG	11-Sep	0.923180142	6.84E-10			
vRG	FABP5P1	0.294953099	7.44E-10			
vRG	TP53	0.31400361	7.97E-10	Transcription factor	BrainSpLMD|7157;Eurexp|euxassay_017977|submandibular gland primordium, thymus primordium;BrainSpMouseDev|21816	OMIM|191170;COSMIC||breast, colorectal, lung, sarcoma, adrenocortical, glioma, Spitzoid tumour, multiple other tumour types, breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types;HPO|7157|Abnormal lactate dehydrogenase activity, Abnormal platelet morphology, Abnormality of metabolism/homeostasis, Abnormality of the fallopian tube, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphysis, Acute leukemia, Adrenocortical carcinoma, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast carcinoma, Chest pain, Choroid plexus papilloma, Colon cancer, Elevated alkaline phosphatase, Headache, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hydrocephalus, Increased megakaryocyte count, Joint swelling, Lung adenocarcinoma, Lymphoma, Micronodular cirrhosis, Myocardial infarction, Nausea, Neoplasia of the nasopharynx, Neoplasm of the adrenal cortex, Neoplasm of the colon, Neoplasm of the nervous system, Neoplasm of the pancreas, Neoplasm of the skin, Neoplasm of the stomach, Nephroblastoma, Osteolysis, Osteosarcoma, Ovarian neoplasm, Pain, Papilledema, Paresthesia, Polygenic inheritance, Primary peritoneal carcinoma, Progressive encephalopathy, Prolonged bleeding time, Prostate cancer, Prostate neoplasm, Renal cell carcinoma, Retinoblastoma, Seizures, Soft tissue sarcoma, Somatic mutation, Splenomegaly, Subacute progressive viral hepatitis, Transient ischemic attack, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Venous thrombosis, Vomiting
vRG	PTGFRN	1.456950758	8.10E-10	Integral membrane protein	BrainSpLMD|5738;Eurexp|euxassay_007366|axial skeleton, clavicle, floor plate, floorplate, lung, mantle layer, mesenchyme, palatal shelf, penis, sternum, submandibular gland primordium, ventricular layer, vibrissa	OMIM|601204
vRG	FKBP9	1.123579853	9.12E-10	Chaperone	BrainSpLMD|11328;Eurexp|euxassay_007465|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, metatarsus, nasal septum, nucleus pulposus, orbito-sphenoid, otic capsule, phalanx, radius, rib, sternum, temporal bone, thyroid, tibia, turbinate, ulna, vault of skull	OMIM|616257;COSMIC||glioma
vRG	IDI1	1.163410524	9.55E-10	Enzyme: Isomerase	BrainSpLMD|3422;Eurexp|euxassay_011601|adrenal gland, cervical, cervico-thoracic, clavicle, cortex, dorsal root ganglion, glossopharyngeal IX, hindgut, incisor, lobe, mandible, mantle layer, maxilla, midgut, molar, neural retina, olfactory, orbito-sphenoid, pancreas, rectum, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ	OMIM|604055
vRG	ARAP2	1.824506338	1.07E-09	GTPase activating protein	BrainSpLMD|116984	OMIM|606645
vRG	ITGA6	1.363381434	1.12E-09	Cell surface receptor	BrainSpLMD|3655;Eurexp|euxassay_012071|cortex, incisor, lung, mantle layer, metanephros, molar, pancreas, penis, rectum, ventral grey horn, ventricle	OMIM|147556;HPO|3655|Abdominal distention, Abnormality of the genitourinary system, Anonychia, Aplasia cutis congenita, Aplasia of the bladder, Arthrogryposis multiplex congenita, Atrophic scars, Autosomal recessive inheritance, Axillary pterygia, Congenital onset, Congenital pyloric atresia, Death in infancy, Ectropion, Elevated maternal serum alpha-fetoprotein, Esophageal atresia, Fragile skin, Hematuria, Hydronephrosis, Hypoplasia of dental enamel, Intestinal atresia, Intractable diarrhea, Junctional split, Milia, Nail dysplasia, Nail dystrophy, Nausea and vomiting, Oral mucosal blisters, Polyhydramnios, Recurrent skin infections, Renal duplication, Renal dysplasia, Ureterocele, Urethral stricture, Urinary bladder inflammation
vRG	MT2A	1.934789728	1.24E-09	Unclassified	Eurexp|euxassay_004529|left, oesophagus, pancreas, pharyngo-tympanic tube, right, stomach, submandibular gland primordium, thyroid, vibrissa	OMIM|156360
vRG	PALLD	0.945320248	1.33E-09	Unclassified	BrainSpLMD|23022	OMIM|608092
vRG	SYNE2	0.579512824	1.43E-09	Cytoskeletal protein	BrainSpLMD|23224;Eurexp|euxassay_010927|cochlea, metanephros, pericardial cavity, peritoneal cavity, renal/urinary system, utricle, ventricular layer	OMIM|608442;HPO|23224|Arrhythmia, Autosomal dominant inheritance, Cardiomyopathy, Childhood onset, Elevated serum creatine phosphokinase, Muscular dystrophy, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Respiratory insufficiency
vRG	SHISA2	0.747163884	1.50E-09	Integral membrane protein	BrainSpLMD|387914	OMIM|617324
vRG	SRI	1.372314981	1.53E-09	Calcium binding protein	BrainSpLMD|6717	OMIM|182520
vRG	TLN2	1.177906436	1.85E-09	Cytoskeletal associated protein	BrainSpLMD|83660	OMIM|607349
vRG	DKK3	1.004884588	1.91E-09	Ligand	BrainSpLMD|27122;Eurexp|euxassay_018106|aorta, axial skeleton, femur, humerus, mesenchyme, neural retina, rib, ventricular layer;BrainSpMouseDev|30269	OMIM|605416
vRG	RAB3GAP2	1.143209077	3.57E-09	GTPase activating protein	BrainSpLMD|25782	OMIM|609275;HPO|25782|Abnormal dermatoglyphics, Abnormal toenail morphology, Abnormality of retinal pigmentation, Abnormality of the distal phalanx of finger, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Asymmetry of the ears, Autosomal recessive inheritance, Brachycephaly, Broad fingertip, Broad nasal tip, Cardiomyopathy, Cataract, Cerebral cortical atrophy, Clitoral hypoplasia, Congenital cataract, Congestive heart failure, Cortical visual impairment, Cryptorchidism, Delayed puberty, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, Feeding difficulties in infancy, Flexion contracture, Furrowed tongue, Generalized hirsutism, Global brain atrophy, Global developmental delay, High palate, Hyperlordosis, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypotelorism, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphosis, Lissencephaly, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Macrotia, Malar flattening, Metatarsus adductus, Microcephaly, Microcornea, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Misalignment of teeth, Muscular hypotonia, Muscular hypotonia of the trunk, Optic atrophy, Overlapping toe, Pachygyria, Pectus carinatum, Pectus excavatum, Polymicrogyria, Posteriorly rotated ears, Postnatal growth retardation, Postnatal microcephaly, Prematurely aged appearance, Prominent antitragus, Prominent nasal bridge, Prominent nipples, Recurrent respiratory infections, Scoliosis, Scrotal hypoplasia, Severe global developmental delay, Short metacarpal, Short nose, Short palm, Short phalanx of finger, Short philtrum, Short stature, Short toe, Slender ulna, Spasticity, Talipes equinovarus, Talipes valgus, Tracheomalacia, Ulnar deviation of finger, Undetectable visual evoked potentials, Wide nasal bridge
vRG	IFITM3	1.008387208	3.71E-09	Integral membrane protein	BrainSpLMD|10410;Eurexp|euxassay_004558|pancreas, submandibular gland primordium, thymus primordium	OMIM|605579
vRG	DMRTA2	1.469780598	3.80E-09	Transcription factor		OMIM|614804
vRG	GPR56	1.294714063	4.32E-09			
vRG	SAMD4A	1.660356389	4.67E-09	Unclassified	BrainSpLMD|23034	OMIM|610747
vRG	IQSEC1	0.933540399	4.90E-09	Guanine nucleotide exchange factor	BrainSpLMD|9922;Eurexp|euxassay_014196|mantle layer, naris, orbito-sphenoid, otic capsule, turbinate bones, ventricular layer, vestibulocochlear VIII	OMIM|610166
vRG	CYR61	1.183950551	5.78E-09	Extracellular matrix protein	BrainSpLMD|3491;BrainSpMouseDev|15780	OMIM|602369
vRG	LITAF	1.355273111	5.80E-09	Transcription factor	BrainSpLMD|9516;Eurexp|euxassay_013657|axial skeleton, incisor, molar, submandibular gland primordium, urethra, ventricular layer, vestibular component, vibrissa	OMIM|603795;HPO|9516|Autosomal dominant inheritance, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Juvenile onset, Onion bulb formation, Pes cavus, Segmental peripheral demyelination/remyelination
vRG	BOC	1.046772813	5.81E-09	Cell surface receptor	BrainSpLMD|91653;Eurexp|euxassay_005272|intermediate grey horn, mantle layer, marginal layer, mesenchyme, trachea, ventricular layer;BrainSpMouseDev|78669	OMIM|608708
vRG	MOB3B	0.627282128	5.96E-09	Unclassified	BrainSpLMD|79817;Eurexp|euxassay_011555|incisor, molar	OMIM|617652
vRG	AC120042.1	0.796678039	6.22E-09			
vRG	FUT8	1.530341559	6.51E-09	Enzyme: Fucosyltransferase	BrainSpLMD|2530	OMIM|602589
vRG	CDON	1.106805797	6.90E-09	Cell surface receptor	BrainSpLMD|50937;BrainSpMouseDev|37081	OMIM|608707;HPO|50937|Agenesis of corpus callosum, Autosomal dominant inheritance, Cleft lip, Cleft palate, Delayed puberty, Ectopic posterior pituitary, Failure to thrive, Global developmental delay, Holoprosencephaly, Hypoglycemia, Hypoplasia of penis, Hypotelorism, Hypothyroidism, Microcephaly, Polysplenia, Proptosis, Short stature, Sporadic, Synophrys, Thick eyebrow, Variable expressivity
vRG	HSPB1	0.507647441	7.31E-09	Chaperone	BrainSpLMD|3315	OMIM|602195;HPO|3315|Adult onset, Areflexia, Areflexia of lower limbs, Autosomal dominant inheritance, Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Difficulty walking, Distal amyotrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Distal sensory impairment, EMG: chronic denervation signs, EMG: neuropathic changes, Fasciculations, Foot dorsiflexor weakness, Heterogeneous, Hyporeflexia, Hyporeflexia of lower limbs, Impaired pain sensation, Impaired temperature sensation, Limb fasciculations, Lower limb muscle weakness, Muscle cramps, Paresis of extensor muscles of the big toe, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Reduced tendon reflexes, Slow progression, Split hand, Steppage gait, Talipes equinovarus, Ulnar claw, Upper limb amyotrophy
vRG	VCAN	0.681615713	7.86E-09	Extracellular matrix protein	BrainSpLMD|1462	OMIM|118661;HPO|1462|Autosomal dominant inheritance, Cataract, Chorioretinal atrophy, Glaucoma, Myopia, Optic atrophy, Optically empty vitreous, Peripheral traction retinal detachment, Retinal pigment epithelial atrophy, Visual field defect, Visual loss, Vitreoretinal degeneration
vRG	MSN	0.967751452	8.32E-09	Cytoskeletal protein	BrainSpLMD|4478;Eurexp|euxassay_009365|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, organ system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	SFARI||Autism, 5 - Hypothesized but untested;OMIM|309845;COSMIC||ALCL;HPO|4478|Decreased antibody level in blood, Eczema, Lymphopenia, Recurrent respiratory infections, Recurrent urinary tract infections, X-linked recessive inheritance
vRG	SLC1A2	1.200239788	8.42E-09	Membrane transport protein	BrainSpLMD|6506;Eurexp|euxassay_009471|brain, spinal cord;BrainSpMouseDev|20273	SFARI||Autism, No category;OMIM|600300;HPO|6506|Autosomal dominant inheritance, Cerebral atrophy, Epileptic encephalopathy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Intellectual disability, profound, Kyphoscoliosis, Neonatal onset, Seizures
vRG	GPM6B	0.878232448	9.99E-09	Integral membrane protein	BrainSpLMD|2824;Eurexp|euxassay_011476|intermediate grey horn, mantle layer, marginal layer, ventral grey horn, ventricular layer	OMIM|300051
vRG	EGR1	0.845827444	1.13E-08	Transcription factor	BrainSpLMD|1958;Eurexp|euxassay_008911|mesenchyme;BrainSpMouseDev|13431	OMIM|128990
vRG	RCN1	1.429845175	1.18E-08	Calcium binding protein	BrainSpLMD|5954;Eurexp|euxassay_006169|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, peripheral nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|19435	OMIM|602735
vRG	LRIG3	1.084621141	1.34E-08	Unclassified	BrainSpLMD|121227	OMIM|608870;COSMIC||NSCLC
vRG	PCGF5	1.463482461	1.52E-08	Ubiquitin proteasome system protein	BrainSpLMD|84333	OMIM|617407
vRG	CELSR1	1.661245217	1.75E-08	G protein coupled receptor	BrainSpLMD|9620;BrainSpMouseDev|12399	OMIM|604523
vRG	FBXO32	1.283464457	1.82E-08	Ubiquitin proteasome system protein	BrainSpLMD|114907;Eurexp|euxassay_009279|atrium, cochlea, cochlear duct, intermediate grey horn, lip, mesenchyme, oesophagus, olfactory, sublingual gland primordium, ventricular layer, vomeronasal organ	OMIM|606604
vRG	IL33	1.336948374	1.89E-08	Unclassified	Eurexp|euxassay_011591|capsule, cortex, endolymphatic duct, lip, mesentery, midgut, olfactory, skeletal muscle, utricle	OMIM|608678
vRG	ADAMTS6	0.846602564	2.13E-08	Metallo protease	BrainSpLMD|11174	OMIM|605008
vRG	FAM19A5	1.128291198	2.22E-08	Chemokine	BrainSpLMD|25817;Eurexp|euxassay_011592|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, marginal layer, spinal cord, trigeminal V, vagus X	OMIM|617499
vRG	GLUD1	1.519150496	3.19E-08	Enzyme: Dehydrogenase	BrainSpLMD|2746	OMIM|138130;HPO|2746|Asymptomatic hyperammonemia, Autosomal dominant inheritance, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability
vRG	RP3.418C23.2	1.455136408	3.19E-08			
vRG	SYT11	0.501572709	3.31E-08	Calcium binding protein	BrainSpLMD|23208	OMIM|608741
vRG	ANGPTL1	1.93568916	3.34E-08	Secreted polypeptide	BrainSpLMD|9068;Eurexp|euxassay_011312|axial skeleton, basioccipital bone, basisphenoid bone, cartilaginous ring, diaphragm, greater sac, handplate, mesenchyme, midgut, naris, oesophagus, orbito-sphenoid, otic capsule, peritoneal cavity, rectum, rib, skeletal muscle, sternum, turbinate bones, valve;BrainSpMouseDev|48554	OMIM|603874
vRG	REXO2	0.683775453	3.35E-08	Ribonuclease	BrainSpLMD|25996	OMIM|607149
vRG	NCAN	1.022238158	3.79E-08	Extracellular matrix protein	BrainSpLMD|1463;Eurexp|euxassay_015922|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, intermediate grey horn, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, ventral grey horn, vestibulocochlear VIII	OMIM|600826
vRG	RP11.436D23.1	0.4131097	3.81E-08			
vRG	ZMAT1	1.487386182	4.19E-08	DNA binding protein	BrainSpLMD|84460	OMIM|301007
vRG	CASP3	1.220857406	4.43E-08	Cysteine protease	BrainSpLMD|836;Eurexp|euxassay_018739|mantle layer, olfactory, vomeronasal organ;BrainSpMouseDev|12152	OMIM|600636
vRG	BMPR1B	1.382485076	4.61E-08	Receptor serine/threonine kinase	BrainSpLMD|658;BrainSpMouseDev|11953	OMIM|603248;HPO|658|2-3 toe syndactyly, Abnormality of epiphysis morphology, Abnormality of the fingernails, Abnormality of the hip bone, Abnormality of the radius, Abnormality of the thumb, Abnormality of the ulna, Abnormality of tibia morphology, Aplasia of the middle phalanges of the toes, Aplasia of the proximal phalanges of the hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the 1st metacarpal, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Aplasia/Hypoplasia of the thumb, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bowing of the long bones, Brachydactyly, Bracket epiphysis of the middle phalanx of the 2nd finger, Bracket epiphysis of the middle phalanx of the 5th finger, Broad foot, Broad hallux, Carpal synostosis, Clinodactyly of the 5th finger, Complete duplication of distal phalanx of the thumb, Cone-shaped epiphysis, Delayed speech and language development, Disproportionate short-limb short stature, Fibular aplasia, Fibular hypoplasia, Hallux valgus, Hypergonadotropic hypogonadism, Hypoplasia of the ulna, Hypoplasia of the uterus, Joint stiffness, Limitation of joint mobility, Medially deviated second toe, Micromelia, Narrow nasal bridge, Poor motor coordination, Postaxial hand polydactyly, Primary amenorrhea, Pseudoepiphyses of the 2nd finger, Radial deviation of finger, Radial deviation of the 2nd finger, Sarcoma, Short 2nd finger, Short distal phalanx of the 2nd finger, Short distal phalanx of the thumb, Short femoral neck, Short finger, Short foot, Short hallux, Short metatarsal, Short middle phalanx of finger, Short middle phalanx of the 5th finger, Short phalanx of finger, Short proximal phalanx of finger, Short proximal phalanx of thumb, Short stature, Short thumb, Short tibia, Short toe, Skeletal dysplasia, Stippling of the epiphysis of the distal phalanx of the thumb, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Triangular shaped middle phalanx of the 2nd finger, Triangular shaped middle phalanx of the 5th finger, Type A2 brachydactyly, Type C brachydactyly, Ulnar deviation of finger, Ulnar deviation of the 2nd finger, Widened proximal tibial metaphyses
vRG	PRDM16	0.68338654	4.90E-08	Transcription factor	BrainSpLMD|63976	OMIM|605557;COSMIC||MDS, AML;HPO|63976|Abnormal morphology of the left ventricle, Absent speech, Agenesis of corpus callosum, Autism, Autosomal dominant inheritance, Brachycephaly, Brachydactyly, Camptodactyly of finger, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Congestive heart failure, Constipation, Deeply set eye, Delayed cranial suture closure, Depressed nasal bridge, Depressed nasal ridge, Dilated cardiomyopathy, Dysphagia, EEG abnormality, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Gait disturbance, Gastroesophageal reflux, Global developmental delay, High-grade hypermetropia, Horizontal eyebrow, Intellectual disability, Left ventricular noncompaction, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Midface retrusion, Muscular hypotonia, Narrow mouth, Pointed chin, Poor speech, Seizures, Self-injurious behavior, Short foot, Stereotypy, Strabismus, Ventriculomegaly, Wide nasal bridge
vRG	TRPS1	1.506455886	5.23E-08	Transcription factor	BrainSpLMD|7227;Eurexp|euxassay_011487|axial skeleton, basioccipital bone, basisphenoid bone, bladder, clavicle, cornea, cricoid, diaphragm, dorsal grey horn, exoccipital bone, femur, humerus, knee, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, rib, skeletal muscle, sternum, stomach, submandibular gland primordium, thyroid, tongue, trachea, ureter, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|58142	OMIM|604386;HPO|7227|Abnormality of the nervous system, Abnormally low-pitched voice, Accelerated bone age after puberty, Aplasia/Hypoplasia of the mandible, Arthralgia, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Bone pain, Bulbous nose, Camptodactyly of finger, Carious teeth, Chin with horizontal crease, Clinodactyly of the 5th finger, Concave nail, Cone-shaped epiphyses of the middle phalanges of the hand, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphyses of the proximal phalanges of the hand, Cone-shaped epiphysis, Coxa magna, Deep philtrum, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Fine hair, Flat capital femoral epiphysis, Fragile nails, Frontal bossing, Generalized hypotonia, High palate, Hyperlordosis, Increased number of teeth, Infantile muscular hypotonia, Intellectual disability, Ivory epiphyses of the distal phalanges of the hand, Joint dislocation, Joint hyperflexibility, Leukonychia, Long philtrum, Long upper lip, Low-set, posteriorly rotated ears, Macrotia, Microdontia, Micrognathia, Multiple long-bone exostoses, Muscular hypotonia, Narrow palate, Osteoarthritis, Osteopenia, Pear-shaped nose, Pectus carinatum, Pes planus, Protruding ear, Recurrent respiratory infections, Redundant skin, Scapular winging, Scoliosis, Short distal phalanx of finger, Short finger, Short foot, Short metacarpal, Short metatarsal, Short palm, Short phalanx of finger, Short stature, Shortening of all phalanges of fingers, Slow-growing hair, Smooth philtrum, Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Sparse lateral eyebrow, Sparse scalp hair, Swelling of proximal interphalangeal joints, Thick eyebrow, Thin eyebrow, Thin nail, Thin upper lip vermilion, Triangular face, Underdeveloped nasal alae
vRG	TFPI	0.3097262	6.03E-08	Protease inhibitor	BrainSpLMD|7035;Eurexp|euxassay_012616|meninges	OMIM|152310
vRG	HEG1	1.206013939	7.01E-08	Calcium binding protein	BrainSpLMD|57493;Eurexp|euxassay_005510|ventricular layer	OMIM|614182
vRG	GALNT16	1.250886093	7.09E-08	Enzyme: Galactosyltransferase	Eurexp|euxassay_011719|floor plate, floorplate, mantle layer, mesenchyme, ventral grey horn, ventricular layer	OMIM|615132
vRG	SPATA13	1.485114192	8.82E-08	Unclassified	BrainSpLMD|221178;Eurexp|euxassay_009443|ventricular layer	OMIM|613324
vRG	JAM2	1.131233337	8.82E-08	Adhesion molecule	BrainSpLMD|58494	OMIM|606870
vRG	AGO3	0.790145634	1.09E-07	Translation regulatory protein	BrainSpLMD|192669	OMIM|607355
vRG	MRC2	1.075762321	1.31E-07	Cell surface receptor	BrainSpLMD|9902;Eurexp|euxassay_009360|mandible, maxilla, meninges, mesenchyme, temporal bone	OMIM|612264
vRG	ABAT	0.853074608	1.47E-07	Enzyme: Aminotransferase	BrainSpLMD|18;Eurexp|euxassay_001907|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, thymus primordium, trigeminal V, ventricular layer;BrainSpMouseDev|92603	SFARI||Autism, 4 - Minimal evidence;OMIM|137150;HPO|18|Agenesis of corpus callosum, Autosomal recessive inheritance, Cerebellar hypoplasia, Death in childhood, Downslanted palpebral fissures, Global developmental delay, High-pitched cry, Hyperreflexia, Lethargy, Leukodystrophy, Posterior fossa cyst, Retrognathia, Seizures, Severe muscular hypotonia, Tall stature
vRG	SLC35D1	1.026327767	1.59E-07	Membrane transport protein	BrainSpLMD|23169	OMIM|610804;HPO|23169|Abnormality of the fingernails, Advanced ossification of carpal bones, Advanced tarsal ossification, Anterior rib cupping, Autosomal recessive inheritance, Brachydactyly, Cleft palate, Cryptorchidism, Disproportionate short-limb short stature, Dolichocephaly, Dumbbell-shaped long bone, Fibular hypoplasia, Flat acetabular roof, Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic toenails, Hypoplastic vertebral bodies, Increased fibular diameter, Lateral clavicle hook, Lymphedema, Macrocephaly, Malar flattening, Metaphyseal irregularity, Micromelia, Midface retrusion, Narrow chest, Ovoid vertebral bodies, Polyhydramnios, Short neck, Short ribs, Snail-like ilia, Stillbirth
vRG	SEL1L3	0.947557325	1.62E-07	Integral membrane protein	BrainSpLMD|23231;Eurexp|euxassay_002775|basal plate, calyces, cerebral cortex, corpus striatum, cortex, dorsal root ganglion, ductus deferens, foregut-midgut junction, glossopharyngeal IX, hindgut, marginal layer, midgut, rectum, stomach, submandibular gland primordium, trigeminal V, urethra, vestibulocochlear VIII	
vRG	RFTN2	0.79252098	1.64E-07	Unclassified	BrainSpLMD|130132	
vRG	PHIP	0.719748344	1.67E-07	Ligand	BrainSpLMD|55023	SFARI||Autism, 4 - Minimal evidence;OMIM|612870
vRG	GPC4	2.057399558	1.70E-07	Integral membrane protein	BrainSpLMD|2239;Eurexp|euxassay_004882|aorta, bladder, clavicle, cochlea, diaphragm, dorsal grey horn, extrinsic ocular muscle, handplate, hindgut, lung, mandible, mantle layer, maxilla, maxillary division, medulla, mesenchyme, metanephros, midgut, pancreas, penis, pharyngo-tympanic tube, skeletal muscle, sternum, stomach, submandibular gland primordium, testis, thymus primordium, ventral grey horn, ventricular layer, vertebral axis muscle system	SFARI||Autism, 3 - Suggestive evidence;OMIM|300168;HPO|2239|2-3 finger syndactyly, Abnormal lung lobation, Abnormality of the helix, Abnormality of the ribs, Accelerated skeletal maturation, Agenesis of corpus callosum, Anteverted nares, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Birth length greater than 97th percentile, Broad foot, Broad palm, Broad secondary alveolar ridge, Broad thumb, Broad toe, Bundle branch block, Camptodactyly of finger, Cardiomyopathy, Cerebellar vermis hypoplasia, Cervical ribs, Cleft palate, Clinodactyly of the 5th finger, Coarse facial features, Congenital diaphragmatic hernia, Cryptorchidism, Death in infancy, Dental malocclusion, Depressed nasal bridge, Diastasis recti, Downslanted palpebral fissures, Duplication of renal pelvis, Enlarged kidney, Epicanthus, Finger syndactyly, Flared iliac wings, Generalized hypotonia, Hearing impairment, Hepatomegaly, Heterogeneous, High, narrow palate, Hydrocephalus, Hydronephrosis, Hydroureter, Hypertelorism, Hypoglycemia, Hypospadias, Increased IgE level, Inguinal hernia, Intestinal malrotation, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Mandibular prognathia, Meckel diverticulum, Multicystic kidney dysplasia, Nail dysplasia, Narrow sacroiliac notch, Nephroblastoma, Neurological speech impairment, Omphalocele, Pancreatic islet-cell hyperplasia, Patent ductus arteriosus, Pectus excavatum, Polyhydramnios, Polysplenia, Postaxial hand polydactyly, Posterior helix pit, Preauricular pit, Preauricular skin tag, Prolonged QT interval, Pulmonic stenosis, Renal cyst, Scoliosis, Short 2nd finger, Short distal phalanx of finger, Short foot, Short neck, Short nose, Short palm, Short sacroiliac notch, Short toe, Six lumbar vertebrae, Small nail, Somatic mutation, Splenomegaly, Submucous cleft lip, Supernumerary nipple, Talipes equinovarus, Tall stature, Toe syndactyly, Transposition of the great arteries, Two carpal ossification centers present at birth, Umbilical hernia, Ureteral duplication, Ventricular septal defect, Vertebral fusion, Vertebral segmentation defect, Webbed neck, Wide mouth, Wide nasal bridge, X-linked recessive inheritance
vRG	GNG5	0.309353758	2.46E-07	G protein	BrainSpLMD|2787;Eurexp|euxassay_007798|embryo	OMIM|600874
vRG	LINC01158	0.331202175	2.66E-07			
vRG	CTBP2	0.794066996	2.71E-07	Adapter molecule;Transcription regulatory protein	BrainSpLMD|1488;Eurexp|euxassay_012486|eyelid, incisor, lung, marginal layer, metanephros, midgut, molar, pancreas, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|12800	OMIM|602619
vRG	ANXA2	0.769690071	3.16E-07	Calcium binding protein	BrainSpLMD|302;Eurexp|euxassay_013682|basal plate, mantle layer, ventral grey horn;BrainSpMouseDev|12091	OMIM|151740
vRG	FUT9	1.356567983	3.21E-07	Enzyme: Fucosyltransferase	BrainSpLMD|10690	OMIM|606865
vRG	RP11.436K8.1	1.057921065	3.23E-07			
vRG	PUS7	1.648119999	3.28E-07	Enzyme: Lyase	BrainSpLMD|54517	OMIM|616261
vRG	SPAG16	1.702584042	4.38E-07	Unclassified	BrainSpLMD|79582	OMIM|612173
vRG	MSI1	0.986114087	4.52E-07	RNA binding protein	BrainSpLMD|4440	OMIM|603328
vRG	PAG1	0.874966287	4.73E-07	Adapter molecule	BrainSpLMD|55824	OMIM|605767
vRG	PTPRM	1.740754348	4.82E-07	Receptor tyrosine phosphatase	BrainSpLMD|5797;Eurexp|euxassay_010519|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|176888
vRG	LINC00998	1.439477283	5.13E-07			
vRG	PDPN	1.474988189	5.52E-07	Water channel	BrainSpLMD|10630;Eurexp|euxassay_002001|axial skeleton, submandibular gland primordium, ventricular layer;BrainSpMouseDev|14502	OMIM|608863
vRG	GRB14	1.794444971	6.09E-07	Adapter molecule	BrainSpLMD|2888;Eurexp|euxassay_012213|dorsal root ganglion, mantle layer, nucleus pulposus, trigeminal V	OMIM|601524
vRG	EMP2	1.544098684	6.38E-07	Cell cycle control protein	BrainSpLMD|2013;Eurexp|euxassay_013721|bladder, epithelium, incisor, larynx, left lung, mantle layer, marginal layer, midgut, molar, pharyngo-tympanic tube, rectum, right lung, skeletal muscle, stomach, thymus primordium, trachea, urethra, ventricular layer, vibrissa	OMIM|602334;HPO|2013|Autosomal recessive inheritance, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome
vRG	FHOD3	1.587698759	7.03E-07	Regulatory/other subunit	Eurexp|euxassay_000020|axial skeleton, basal columns, capsule, cardiac muscle, dermal component, duodenum, facial VII, foregut, glossopharyngeal IX, hindgut, inferior, mantle layer, medulla, medullary tubules, midgut, muscle, skeletal muscle, trigeminal V, vagus X, ventricular layer, vertebral cartilage condensation, vestibulocochlear VIII	OMIM|609691
vRG	PHLPP1	1.58691001	7.04E-07	Unclassified	BrainSpLMD|23239;Eurexp|euxassay_010722|ventricular layer	OMIM|609396
vRG	ATP2B4	0.804879494	7.14E-07	ATPase	BrainSpLMD|493;Eurexp|euxassay_013200|lobe, ventral grey horn	OMIM|108732
vRG	REST	0.967742124	7.41E-07	Transcription regulatory protein	BrainSpLMD|5978;BrainSpMouseDev|19475	OMIM|600571;HPO|5978|Abdominal pain, Gingival fibromatosis, Gingival overgrowth, Nephroblastoma
vRG	PDLIM5	1.357026964	7.86E-07	Adapter molecule	BrainSpLMD|10611;Eurexp|euxassay_011640|alar columns, axial skeleton, bladder, choroid plexus, clavicle, dorsal grey horn, floor plate, floorplate, mesenchyme, metanephros, midgut, oesophagus, stomach, submandibular gland primordium, trachea, urethra, ventral grey horn, ventricular layer	OMIM|605904
vRG	MPPED2	1.020693788	8.28E-07	Enzyme: Hydrolase	BrainSpLMD|744;Eurexp|euxassay_014223|axial skeleton, head mesenchyme, rib, thyroid, ventricular layer	OMIM|600911
vRG	LRRC1	0.623341756	8.67E-07	Unclassified	BrainSpLMD|55227	SFARI||Autism, 4 - Minimal evidence;OMIM|608195
vRG	JAM3	1.239906166	9.17E-07	Adhesion molecule	BrainSpLMD|83700;Eurexp|euxassay_000180|cerebral cortex, chondrocranium, diaphragm, head mesenchyme, limb, mantle layer, mesenchyme, tongue, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|58180	OMIM|606871;HPO|83700|Autosomal recessive inheritance, Cataract, Congenital onset, Global developmental delay, Hepatomegaly, Hyperreflexia, Postnatal microcephaly, Seizures, Spasticity, Ventriculomegaly
vRG	SULT1C4	0.957650687	9.18E-07	Enzyme: Sulphotransferase	BrainSpLMD|27233	OMIM|608357
vRG	SALL1	1.534675658	9.48E-07	Transcription factor	BrainSpLMD|6299;Eurexp|euxassay_000198|basal columns, corpus striatum, epithelium, floor plate, floorplate, glomeruli, handplate, head mesenchyme, intermediate grey horn, isthmus, lateral wall, mantle layer, marginal layer, medulla oblongata, mesenchyme, olfactory, pars tuberalis, penis, skin, telencephalon, thyroid, ventral grey horn, ventricular layer;BrainSpMouseDev|37230	OMIM|602218;HPO|6299|2-3 toe syndactyly, 3-4 finger syndactyly, 3-4 toe syndactyly, Anal atresia, Anal stenosis, Anteriorly placed anus, Aplasia/Hypoplasia of the 3rd toe, Autosomal dominant inheritance, Bifid scrotum, Bifid uterus, Broad thumb, Chorioretinal coloboma, Clinodactyly of the 5th finger, Constipation, Cryptorchidism, Duodenal atresia, External ear malformation, Gastroesophageal reflux, Hearing impairment, Hypospadias, Hypothyroidism, Intellectual disability, Macrotia, Metatarsal synostosis, Microcephaly, Microtia, Overfolded helix, Overfolding of the superior helices, Partial duplication of thumb phalanx, Pes planus, Preauricular skin tag, Preaxial hand polydactyly, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Rectovaginal fistula, Renal insufficiency, Satyr ear, Short metatarsal, Stahl ear, Subcutaneous nodule, Tetralogy of Fallot, Toe clinodactyly, Triphalangeal thumb, Umbilical hernia, Urethral valve, Ventricular septal defect
vRG	DOCK1	1.061458335	1.05E-06	Guanine nucleotide exchange factor	BrainSpLMD|1793	SFARI||Autism, 4 - Minimal evidence;OMIM|601403
vRG	GNG12	1.473283989	1.19E-06	G protein	BrainSpLMD|55970;Eurexp|euxassay_002072|ventricular layer	OMIM|615405
vRG	FGFR1	1.024772204	1.25E-06	Receptor tyrosine kinase	BrainSpLMD|2260;BrainSpMouseDev|13959	OMIM|136350;COSMIC||MPN, NHL, salivary adenoma, Pfeiffer syndrome, Kallman syndrome;HPO|2260|2-3 toe syndactyly, Abnormal form of the vertebral bodies, Abnormality of body height, Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Abnormality of the clavicle, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Absent septum pellucidum, Agenesis of corpus callosum, Alopecia, Anosmia, Anterior hypopituitarism, Anterior pituitary hypoplasia, Anteverted nares, Anxiety, Aphasia, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Arachnoid cyst, Arnold-Chiari malformation, Atrial septal defect, Autosomal dominant inheritance, Bicoronal synostosis, Bimanual synkinesia, Bone cyst, Bowing of the long bones, Brachycephaly, Brachyturricephaly, Breast hypoplasia, Broad foot, Broad hallux, Broad hallux phalanx, Broad metacarpals, Broad metatarsal, Broad palm, Broad phalanx, Broad thumb, Bronchomalacia, Calcaneonavicular fusion, Capillary hemangiomas, Cartilaginous trachea, Cerebellar hypoplasia, Cerebral calcification, Cerebral cortical atrophy, Choanal atresia, Choanal stenosis, Chordee, Cleft eyelid, Cleft palate, Cleft upper lip, Cloverleaf skull, Corneal opacity, Coronal craniosynostosis, Cortical dysplasia, Craniofacial hyperostosis, Craniosynostosis, Cryptorchidism, Dandy-Walker malformation, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Depressivity, Diabetes insipidus, Downslanted palpebral fissures, Dysphasia, Echolalia, Ectrodactyly, Elbow ankylosis, Encephalocele, Epibulbar dermoid, Epicanthus, Erectile abnormalities, Eunuchoid habitus, Failure to thrive, Failure to thrive in infancy, Female hypogonadism, Finger syndactyly, Frontal bossing, Global developmental delay, Gonadotropin deficiency, Gynecomastia, Hallux varus, Hemiplegia/hemiparesis, Heterogeneous, High forehead, High palate, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hypernatremia, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the frontal bone, Hypoplasia of the iris, Hypoplasia of the maxilla, Hypoplasia of the ovary, Hypoplasia of the uterus, Hypoplastic scapulae, Hypoplastic toenails, Hyposmia, Hypospadias, Hypotelorism, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Incomplete penetrance, Increased female libido, Increased susceptibility to fractures, Inguinal hernia, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Limb undergrowth, Linear hyperpigmentation, Lipodystrophy, Lipoma, Lipomas of the central neryous system, Lobar holoprosencephaly, Long penis, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hemivertebrae, Macrocephaly, Malar flattening, Male hypogonadism, Mandibular prognathia, Meckel diverticulum, Microcephaly, Microdontia, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Multiple lipomas, Multiple unerupted teeth, Muscle stiffness, Mutism, Nasal obstruction, Neonatal hypotonia, Neoplasm of the skeletal system, Nevus flammeus, Non-midline cleft lip, Non-obstructive azoospermia, Nystagmus, Oligodontia, Omphalocele, Osteolysis, Osteopenia, Osteoporosis, Pelvic kidney, Peripheral pulmonary artery stenosis, Platyspondyly, Posteriorly rotated ears, Preauricular skin tag, Primary amenorrhea, Prominent supraorbital ridges, Proptosis, Protruding ear, Pseudoarthrosis, Ptosis, Pulmonary arterial hypertension, Reduced bone mineral density, Reduced number of teeth, Respiratory distress, Respiratory insufficiency, Retinopathy, Rhizomelia, Rigidity, Sclerocornea, Secondary amenorrhea, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Severe short stature, Shallow orbits, Short foot, Short hallux, Short metacarpal, Short metatarsal, Short middle phalanx of toe, Short neck, Short nose, Short palm, Short phalanx of finger, Short stature, Shortening of all middle phalanges of the fingers, Somatic mosaicism, Sparse body hair, Spasticity, Split hand, Sporadic, Strabismus, Subcortical cerebral atrophy, Subcutaneous lipoma, Subcutaneous nodule, Subvalvular aortic stenosis, Syndactyly, Synophrys, Telecanthus, Toe syndactyly, Tricuspid valve prolapse, Trigonocephaly, Unerupted tooth, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide intermamillary distance, Wide nasal bridge, Wide nose, Xanthomatosis
vRG	NADK2	0.680988891	1.27E-06	Unclassified	BrainSpLMD|133686	OMIM|615787;HPO|133686|Autosomal recessive inheritance, Cerebral atrophy, Choreoathetosis, Cortical visual impairment, Death in infancy, Decreased plasma free carnitine, Dystonia, Encephalopathy, Failure to thrive, Global developmental delay, Hyperlysinemia, Leukodystrophy, Microcephaly, Muscular hypotonia, Neonatal hypotonia, Nystagmus, Seizures, Spasticity, Tetraplegia, Ventriculomegaly
vRG	TCF7L2	1.151940313	1.69E-06	Transcription factor	BrainSpLMD|6934;Eurexp|euxassay_019472|lip, mantle layer, mesenchyme, midgut, pancreas, phalanx, skeletal muscle, sternum, stomach, trachea, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|21177	SFARI||Autism, 3 - Suggestive evidence;OMIM|602228;COSMIC||colorectal
vRG	SUMO2P17	0.947212187	1.79E-06			
vRG	FAM84A	1.0558975	1.79E-06	Unclassified	BrainSpLMD|151354;Eurexp|euxassay_003388|respiratory, submandibular gland primordium, urethra, vibrissa	OMIM|611234
vRG	SCHIP1	0.257249738	1.80E-06	Unclassified	BrainSpLMD|29970;Eurexp|euxassay_012101|aorta, bladder, brain, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, mantle layer, mesenchyme, metanephros, midgut, molar, neural retina, oesophagus, olfactory, pancreas, primitive seminiferous tubules, spinal cord, stomach, submandibular gland primordium, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vomeronasal organ	
vRG	IL6ST	0.673890839	1.85E-06	Cytokine receptor	BrainSpLMD|3572;BrainSpMouseDev|15968	OMIM|600694;COSMIC||hepatocellular carcinoma
vRG	PTAR1	0.879545296	2.17E-06	Unclassified		
vRG	GAB1	0.941969837	2.29E-06	Adapter molecule	BrainSpLMD|2549	OMIM|604439
vRG	HEATR5A	0.905192804	2.34E-06	Unclassified	BrainSpLMD|25938;Eurexp|euxassay_011074|glossopharyngeal IX, mantle layer, neural retina, trigeminal V, ventricle	
vRG	KCNN3	0.543060383	2.40E-06	Intracellular ligand gated channel	BrainSpLMD|3782	OMIM|602983
vRG	EMX2	0.804774514	2.56E-06	Transcription factor	BrainSpLMD|2018;Eurexp|euxassay_019479|eyelid, lip, mantle layer, metanephros, olfactory, paramesonephric duct, phalanx, saccule, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|13575	OMIM|600035;HPO|2018|Schizencephaly
vRG	KIAA1161	1.816251404	2.68E-06			
vRG	PLCH1	1.261492169	2.68E-06	Unclassified	BrainSpMouseDev|92752	OMIM|612835
vRG	METTL7A	1.045659734	2.75E-06	Enzyme: Methyltransferase	BrainSpLMD|25840	
vRG	DDR1	0.486492203	2.88E-06	Receptor tyrosine kinase	BrainSpLMD|780;BrainSpMouseDev|12090	OMIM|600408
vRG	TSPAN6	1.252558516	3.32E-06	Cell surface receptor	BrainSpLMD|7105;Eurexp|euxassay_004870|incisor, mandible, maxilla, molar	OMIM|300191
vRG	SHC3	0.887757751	4.38E-06	Adapter molecule	BrainSpLMD|53358;Eurexp|euxassay_009466|cochlear duct, ventral grey horn, ventricular layer	OMIM|605263
vRG	FAM114A1	0.886002807	4.85E-06	Unclassified	BrainSpLMD|92689;Eurexp|euxassay_002429|Meckel's cartilage, cranium	
vRG	RP3.525N10.2	0.810675055	5.06E-06			
vRG	MGST3	0.324436782	5.10E-06	Enzyme: Glutathione transferase	BrainSpLMD|4259;Eurexp|euxassay_015092|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, neural retina, olfactory, spinal cord, stomach, stroma, thoracic, trigeminal V, urethra, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42290	OMIM|604564
vRG	CRYZ	1.662458029	5.35E-06	Enzyme: Oxidoreductase	BrainSpLMD|1429	OMIM|123691
vRG	ARHGAP5	0.81776417	6.21E-06	GTPase activating protein	BrainSpLMD|394	OMIM|602680;COSMIC||colon cancer, glioma
vRG	ROBO1	0.59071446	6.83E-06	Adhesion molecule	BrainSpLMD|6091;Eurexp|euxassay_009691|adrenal gland, extrinsic ocular muscle, incisor, lip, mandible, mantle layer, metanephros, metatarsus, midgut, molar, nasal septum, palatal shelf, penis, phalanx, tarsus, turbinate bones, ventral grey horn, vibrissa;BrainSpMouseDev|19639	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602430
vRG	FDFT1	0.611280668	6.93E-06	Enzyme: Synthase	BrainSpLMD|2222;Eurexp|euxassay_005703|calyces, cerebral cortex, cervical, cervico-thoracic, cochlear component, dorsal root ganglion, epithelium, facial VII, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, inferior, inner ear, lens, loop, mantle layer, mesenteric artery, midgut, molar, nucleus pulposus, retina, skeleton, stomach, superior, tegmentum, thoracic, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|184420
vRG	CASC10	1.163230791	7.23E-06	Unclassified		
vRG	BBX	0.43495844	7.24E-06	Transcription factor	BrainSpLMD|56987;Eurexp|euxassay_001866|cortex, mantle layer, pituitary, testis, ventricular layer;BrainSpMouseDev|46349	
vRG	STXBP3	1.079439496	7.60E-06	Transport/cargo protein	BrainSpLMD|6814	OMIM|608339
vRG	7-Sep	0.462322916	7.70E-06			
vRG	LDLR	0.823161179	8.07E-06	Cell surface receptor	BrainSpLMD|3949;Eurexp|euxassay_010458|adrenal gland, cervical, cervico-thoracic, clavicle, hindgut, incisor, mandible, maxilla, metanephros, midgut, orbito-sphenoid, otic capsule, rib, submandibular gland primordium, thoracic, turbinate, ventral grey horn	OMIM|606945;HPO|3949|Abnormality of internal carotid artery, Angina pectoris, Aortic atherosclerosis, Autosomal dominant inheritance, Cerebral artery atherosclerosis, Corneal arcus, Coronary atherosclerosis, Dyspnea, Heart murmur, Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia, Hypertension, Increased circulating low-density lipoprotein levels, Left ventricular failure, Myocardial infarction, Myocardial steatosis, Peripheral arterial stenosis, Precocious atherosclerosis, Premature arteriosclerosis, Premature coronary artery disease, Renal artery stenosis, Sudden cardiac death, Xanthelasma
vRG	RHOQ	0.71563178	8.42E-06	GTPase		OMIM|605857
vRG	IFI6	1.126972712	8.60E-06	Unclassified	BrainSpLMD|2537	OMIM|147572
vRG	PPM1K	1.06798146	8.82E-06	Serine/threonine phosphatase	BrainSpLMD|152926	OMIM|611065;HPO|152926|Elevated plasma branched chain amino acids
vRG	NBPF11	0.465644806	9.23E-06	Unclassified	BrainSpLMD|200030	OMIM|614001
vRG	TBL1X	1.960125844	9.49E-06	Cell cycle control protein	BrainSpLMD|6907	SFARI||Autism, 4 - Minimal evidence;OMIM|300196
vRG	ANXA2P2	0.448682106	1.02E-05		BrainSpLMD|304	
vRG	ACTN1	3.293617417	1.04E-05	Cytoskeletal associated protein;Structural protein	BrainSpLMD|87	OMIM|102575;HPO|87|Anisocytosis, Autosomal dominant inheritance, Increased mean platelet volume, Thrombocytopenia
vRG	TMED10	1.0115683	1.04E-05	Integral membrane protein	BrainSpLMD|10972	OMIM|605406
vRG	OAT	1.215294423	1.06E-05	Enzyme: Aminotransferase	BrainSpLMD|4942	OMIM|613349;HPO|4942|Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Blindness, Chorioretinal atrophy, EMG abnormality, Myopia, Nyctalopia, Posterior subcapsular cataract, Proximal muscle weakness
vRG	HMGCR	0.697641741	1.17E-05	Enzyme: Reductase	BrainSpLMD|3156;Eurexp|euxassay_004330|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nucleus pulposus, spinal cord, thoracic, trigeminal V, vagus X	OMIM|142910
vRG	YAP1	1.49934691	1.18E-05	Transcription regulatory protein	BrainSpLMD|10413	OMIM|606608;HPO|10413|Autosomal dominant inheritance, Bilateral cleft lip and palate, Chorioretinal coloboma, Hematuria, Intellectual disability, Iris coloboma, Microphthalmia, Sensorineural hearing impairment
vRG	RIN2	0.560528603	1.28E-05	Guanine nucleotide exchange factor	BrainSpLMD|54453	OMIM|610222;HPO|54453|Abnormality of the sternum, Alopecia, Autosomal recessive inheritance, Bruising susceptibility, Coarse facial features, Cognitive impairment, Cutis laxa, Decreased body weight, Downslanted palpebral fissures, Eclabion, Gingival overgrowth, High palate, High pitched voice, Hirsutism, Hyperextensible skin, Infra-orbital fold, Irregular dentition, Joint hypermobility, Long philtrum, Muscular hypotonia, Palpebral edema, Pes planus, Prolonged bleeding time, Redundant skin, Scoliosis, Short stature, Sparse and thin eyebrow, Sparse hair, Sparse scalp hair, Thick lower lip vermilion, Umbilical hernia, Upper eyelid edema
vRG	AP001172.2	1.206829256	1.43E-05			
vRG	TMEM65	1.872685185	1.51E-05	Integral membrane protein	BrainSpLMD|157378	OMIM|616609
vRG	FKBP9P1	0.416580409	1.55E-05	Calcium binding protein		
vRG	CALD1	1.110630125	1.71E-05	Cytoskeletal associated protein	BrainSpLMD|800	OMIM|114213
vRG	MYO6	1.089052209	1.80E-05	Motor protein	BrainSpLMD|4646	OMIM|600970;HPO|4646|Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment
vRG	ALDH9A1	1.042502391	1.86E-05	Enzyme: Dehydrogenase	BrainSpLMD|223	OMIM|602733
vRG	TMEM170A	0.973241467	1.93E-05	Unclassified	BrainSpLMD|124491	
vRG	APBB2	1.000692484	2.08E-05	Adapter molecule	BrainSpLMD|323;Eurexp|euxassay_007659|corpus striatum, mantle layer, nasal septum, neural retina, turbinate bones, ventral grey horn	OMIM|602710
vRG	SPRY2	1.077111807	2.23E-05	Unclassified	BrainSpLMD|10253	OMIM|602466
vRG	CSMD2	0.899820357	2.26E-05	Unclassified	BrainSpLMD|114784;Eurexp|euxassay_013347|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	OMIM|608398
vRG	CST3	0.913461269	2.30E-05	Protease inhibitor	BrainSpLMD|1471;Eurexp|euxassay_004853|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|12793	OMIM|604312;HPO|1471|Autosomal dominant inheritance, Cerebral amyloid angiopathy, Cerebral hemorrhage, Dementia, Generalized amyloid deposition, Intracranial hemorrhage, Stroke
vRG	SEMA6A	0.68249926	2.52E-05	Integral membrane protein	BrainSpLMD|57556;Eurexp|euxassay_011666|axial skeleton, clavicle, cochlea, mandible, mantle layer, marginal layer, maxilla, meninges, mesenchyme, metanephros, neural retina, palatal shelf, skeletal muscle, submandibular gland primordium, thyroid, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|20121	OMIM|605885
vRG	JUN	0.739184581	2.59E-05	Transcription factor	BrainSpLMD|3725;Eurexp|euxassay_017995|mantle layer, metacarpus, metatarsus, olfactory, phalanx, ventral grey horn, ventricular layer;BrainSpMouseDev|16249	OMIM|165160;COSMIC||sarcoma
vRG	GAREML	1.278897231	2.68E-05			
vRG	TTYH3	0.846122737	2.76E-05	Ion channel	BrainSpLMD|80727	OMIM|608919
vRG	ZDHHC13	1.231025315	2.93E-05	Unclassified	BrainSpLMD|54503;Eurexp|euxassay_013713|cortex, epithelium, molar, olfactory, vibrissa, vomeronasal organ	OMIM|612815
vRG	RP1.104O17.1	1.085720967	3.03E-05			
vRG	IGDCC4	0.6902407	3.17E-05	Cell surface receptor	BrainSpLMD|57722;Eurexp|euxassay_007736|diaphragm, footplate, handplate, mantle layer, mesenchyme, oesophagus, rest of mesenchyme, skeletal muscle, tongue, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|616810
vRG	SCAF11	0.610149227	3.25E-05	RNA binding protein	BrainSpLMD|9169;Eurexp|euxassay_014100|ventricle, ventricular layer	OMIM|603668
vRG	FOSB	0.583820937	3.26E-05	Transcription factor	BrainSpLMD|2354	OMIM|164772
vRG	LRP6	0.712969709	3.56E-05	Structural protein	BrainSpLMD|4040;Eurexp|euxassay_018221|lung, nasal septum, otic capsule, submandibular gland primordium, trachea, vibrissa;BrainSpMouseDev|16744	OMIM|603507;HPO|4040|Agenesis of permanent teeth, Autosomal dominant inheritance, Hypoplasia of the maxilla, Microdontia, Micrognathia, Oligodontia
vRG	TOB2	0.610033426	3.65E-05	Cell cycle control protein	BrainSpLMD|10766;Eurexp|euxassay_002023|Meckel's cartilage, orbito-sphenoid	OMIM|607396
vRG	KAZN	1.494882423	3.68E-05	Unclassified	BrainSpLMD|23254	
vRG	TMBIM6	0.696526078	3.68E-05	Integral membrane protein	BrainSpLMD|7009	OMIM|600748
vRG	CKB	0.497844639	3.75E-05	Enzyme: Phosphotransferase	BrainSpLMD|1152;Eurexp|euxassay_011493|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lung, mandible, mantle layer, maxilla, midgut, neural retina, oesophagus, olfactory, rectum, sternum, stomach, trigeminal V, ventral grey horn, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ, wall	OMIM|123280
vRG	NCKAP5	0.668568437	3.77E-05	Unclassified	BrainSpLMD|344148;Eurexp|euxassay_016857|brain, cochlea, epithelium, left lung, otic capsule, retina, right lung, spinal cord	SFARI||Autism, 4 - Minimal evidence;OMIM|608789
vRG	TMEM98	0.809336049	3.78E-05	Integral membrane protein	BrainSpLMD|26022	OMIM|615949;HPO|26022|Abnormality of the choroid, Autosomal dominant inheritance, Glaucoma, High-grade hypermetropia, Microphthalmia, Strabismus
vRG	RP11.169K16.7	0.984741118	3.84E-05			
vRG	FZD3	0.639197711	4.00E-05	G protein coupled receptor	BrainSpLMD|7976;BrainSpMouseDev|14141	OMIM|606143
vRG	SGSM2	1.181270536	4.36E-05	Unclassified	BrainSpLMD|9905	OMIM|611418
vRG	SLC16A1	0.637227425	4.36E-05	Membrane transport protein	BrainSpLMD|6566;Eurexp|euxassay_003351|Meckel's cartilage, axial muscle, capsule, clavicle, epidermis, foregut-midgut junction, glomeruli, hindgut, incisor, left lung, lobe, loop, marginal layer, meninges, midgut, molar, nasal septum, olfactory, pancreas, rectum, right lung, submandibular gland primordium, testis, thymus primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|600682;HPO|6566|Autosomal dominant inheritance, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise-induced muscle cramps, Exercise-induced muscle fatigue, Exercise-induced muscle stiffness, Feeding difficulties, Global developmental delay, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability, Ketoacidosis, Ketotic hypoglycemia, Pancreatic islet-cell hyperplasia
vRG	FGFR2	0.822924933	4.47E-05	Receptor tyrosine kinase	BrainSpLMD|2263;BrainSpMouseDev|13960	OMIM|176943;COSMIC||gastric, NSCLC, endometrial, Crouzon, Pfeiffer, and Apert syndromes;HPO|2263|2-3 finger syndactyly, 2-3 toe syndactyly, Abnormal facial shape, Abnormal heart morphology, Abnormal morphology of the limbic system, Abnormal renal morphology, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the cervical spine, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the palate, Abnormality of the pancreas, Abnormality of the periosteum, Abnormality of the pinna, Abnormality of the ribs, Absence of Stensen duct, Absent first metatarsal, Absent lacrimal punctum, Absent proximal phalanx of thumb, Absent radius, Absent septum pellucidum, Acanthosis nigricans, Acne, Acrobrachycephaly, Agenesis of corpus callosum, Alacrima, Anomalous tracheal cartilage, Anteriorly placed anus, Anteverted nares, Aplasia of the parotid gland, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Arachnodactyly, Arachnoid cyst, Arnold-Chiari malformation, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bicoronal synostosis, Bifid scrotum, Bifid uvula, Bilateral single transverse palmar creases, Bilateral triphalangeal thumbs, Blepharospasm, Brachycephaly, Brachydactyly, Brachyturricephaly, Breast carcinoma, Broad distal hallux, Broad distal phalanx of the thumb, Broad forehead, Broad hallux, Broad hallux phalanx, Broad metatarsal, Broad thumb, Bronchomalacia, Buphthalmos, Calcaneonavicular fusion, Camptodactyly, Camptodactyly of finger, Carious teeth, Cartilaginous trachea, Cerebellar hypoplasia, Cervical C5/C6 vertebrae fusion, Choanal atresia, Choanal stenosis, Chronic otitis media, Cleft of chin, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Cloverleaf skull, Conductive hearing impairment, Congenital stationary night blindness, Conical incisor, Conjunctivitis, Convex nasal ridge, Corneal perforation, Coronal craniosynostosis, Coronal hypospadias, Craniofacial dysostosis, Craniosynostosis, Cryptorchidism, Cupped ear, Cutaneous finger syndactyly, Dacryocystitis, Decreased calvarial ossification, Delayed cranial suture closure, Delayed eruption of primary teeth, Delayed eruption of teeth, Dental crowding, Dental malocclusion, Depressed nasal bridge, Deviation of the thumb, Dolichocephaly, Downslanted palpebral fissures, Dysgerminoma, Ectopic anus, Elbow ankylosis, Esophageal atresia, External ear malformation, Extramedullary hematopoiesis, Facial asymmetry, Feeding difficulties in infancy, Femoral bowing, Finger syndactyly, Flat face, Flat forehead, Frontal bossing, Fused labia minora, Gingival overgrowth, Global developmental delay, Growth abnormality, Hallux valgus, Hallux varus, Hearing abnormality, Hearing impairment, High forehead, High palate, Hirsutism, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hyperextensible skin, Hyperlordosis, Hypertelorism, Hypertension, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the lacrimal puncta, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplasia of the zygomatic bone, Hypoplastic ischia, Hypoplastic labia majora, Hypoplastic lacrimal duct, Incomplete ossification of pubis, Increased intracranial pressure, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Joint stiffness, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Lambdoidal craniosynostosis, Large fontanelles, Laryngomalacia, Limitation of joint mobility, Limited elbow extension, Long nose, Long philtrum, Low anterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Malar flattening, Mandibular prognathia, Megalencephaly, Megalocornea, Melanocytic nevus, Metopic depression, Micrognathia, Microtia, Midface retrusion, Mixed hearing impairment, Morphological abnormality of the semicircular canal, Multiple suture craniosynostosis, Narrow chest, Narrow internal auditory canal, Narrow nose, Narrow palate, Narrow pelvis bone, Nasolacrimal duct obstruction, Natal tooth, Nephrosclerosis, Open bite, Optic atrophy, Osteopenia, Overfolding of the superior helices, Overriding aorta, Oxycephaly, Palmoplantar cutis gyrata, Palmoplantar cutis laxa, Palmoplantar keratoderma, Parietal foramina, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of the distal phalanx of the 3rd finger, Partial duplication of thumb phalanx, Periorbital fullness, Plagiocephaly, Posterior fossa cyst, Preauricular skin furrow, Preaxial polydactyly, Prominent crus of helix, Prominent nasal bridge, Prominent scrotal raphe, Proptosis, Ptosis, Pyloric stenosis, Radial deviation of the 3rd finger, Radioulnar synostosis, Recurrent corneal erosions, Reduced number of teeth, Renal agenesis, Respiratory distress, Rocker bottom foot, Sagittal craniosynostosis, Seizures, Shallow orbits, Short clavicles, Short foot, Short hallux, Short metatarsal, Short middle phalanx of toe, Short nose, Short palm, Short stature, Shortening of all middle phalanges of the fingers, Skull asymmetry, Sleep apnea, Small hand, Small nail, Small thenar eminence, Somatic mutation, Steep acetabular roof, Stenosis of the external auditory canal, Stomach cancer, Strabismus, Subcutaneous nodule, Syndactyly, Synostosis of carpal bones, Telecanthus, Toe syndactyly, Tracheomalacia, Turricephaly, Ulnar bowing, Underdeveloped supraorbital ridges, Upper airway obstruction, Vaginal atresia, Variable expressivity, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide anterior fontanel, Xerostomia
vRG	WEE1	0.516126991	4.82E-05	Dual specificity kinase	BrainSpLMD|7465;Eurexp|euxassay_016462|hindgut, lung, midgut, stomach, submandibular gland primordium, ventricular layer	OMIM|193525
vRG	MLLT10	0.823166176	4.88E-05	Transcription factor	BrainSpLMD|8028	OMIM|602409;COSMIC||AL
vRG	YBX3	1.309560464	4.93E-05	DNA binding protein	BrainSpLMD|8531	OMIM|603437
vRG	TPI1P1	0.671619675	5.01E-05			
vRG	NPY	0.845302458	5.02E-05	Unclassified	BrainSpLMD|4852;Eurexp|euxassay_000446|basal plate, diencephalon, dorsal grey horn, mantle layer, marginal layer, telencephalon;BrainSpMouseDev|73806	OMIM|162640
vRG	RAI14	1.105908088	5.61E-05	Unclassified	BrainSpLMD|26064;Eurexp|euxassay_015953|axial muscle, clavicle, floor plate, floorplate, incisor, lung, mandible, maxilla, metanephros, orbito-sphenoid, palatal shelf, penis, physiological umbilical hernia, rib, roof plate, turbinate, ventricular layer	OMIM|606586
vRG	INSIG1	1.233195925	5.63E-05	Integral membrane protein	BrainSpLMD|3638;Eurexp|euxassay_011040|cervical, cervico-thoracic, glossopharyngeal IX, hindgut, incisor, lobe, mandible, maxilla, mesenchyme, midgut, neural retina, rectum, stomach, thoracic, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|602055
vRG	ZBTB20	0.630329964	5.71E-05	Transcription factor	BrainSpLMD|26137;BrainSpMouseDev|35770	SFARI||Autism, 3 - Suggestive evidence;OMIM|606025;HPO|26137|Abnormality of the palate, Absent axillary hair, Absent facial hair, Anemia, Anonychia, Autosomal dominant inheritance, Basilar impression, Bilateral cryptorchidism, Bone cyst, Brachycephaly, Broad forehead, Calcification of the auricular cartilage, Cataract, Conductive hearing impairment, Deeply set eye, Developmental regression, Distal amyotrophy, Downslanted palpebral fissures, Downturned corners of mouth, Gait disturbance, Generalized hypotonia, Generalized osteoporosis, Genu valgum, Gynecomastia, Hearing impairment, Hip contracture, Hydrocephalus, Hypogonadism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Increased size of the mandible, Intellectual disability, Irregular vertebral endplates, Knee flexion contracture, Kyphosis, Macrocephaly, Macrotia, Malar flattening, Metatarsus adductus, Midface retrusion, Myopathy, Narrow chest, Narrow iliac wings, Narrow mouth, Neurodegeneration, Osteolysis, Pectus excavatum, Pes cavus, Plagiocephaly, Posterior polar cataract, Posterior scalloping of vertebral bodies, Ptosis, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Sparse scalp hair, Sporadic, Superiorly displaced ears, Synophrys, Thick lower lip vermilion, Truncal obesity
vRG	LSS	1.080904111	5.85E-05	Enzyme: Mutase	BrainSpLMD|4047;Eurexp|euxassay_017872|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lobe, mandible, mantle layer, molar, neural retina, thoracic, thymus primordium, trigeminal V, ventricular layer, vibrissa	OMIM|600909;HPO|4047|Autosomal recessive inheritance, Congenital cataract, Visual loss
vRG	GLO1	0.972983801	6.38E-05	Enzyme: Lyase	BrainSpLMD|2739	SFARI||Autism, 4 - Minimal evidence;OMIM|138750
vRG	PTPRF	0.88718542	7.20E-05	Receptor tyrosine phosphatase	BrainSpLMD|5792	OMIM|179590;HPO|5792|Absent nipple, Autosomal recessive inheritance, Broad nasal tip, Small earlobe, Smooth philtrum
vRG	LARP7	0.530453736	7.83E-05	Unclassified	BrainSpLMD|51574;Eurexp|euxassay_006535|embryo	OMIM|612026;HPO|51574|Autosomal recessive inheritance, Decreased body weight, Deeply set eye, Depressed nasal bridge, Global developmental delay, Intellectual disability, severe, Low-set ears, Malar flattening, Microcephaly, Scoliosis, Severe short stature, Short philtrum, Thick vermilion border, Wide mouth, Wide nasal bridge, Wide nose
vRG	NBPF15	0.612020956	8.03E-05	Unclassified		OMIM|614005
vRG	SDCBP	0.692955995	8.54E-05	Adapter molecule	BrainSpLMD|6386;Eurexp|euxassay_008333|naris, olfactory, respiratory	OMIM|602217
vRG	MGAT4C	1.322858811	9.18E-05	Enzyme: Glucosaminyltransferase	BrainSpLMD|25834	OMIM|607385
vRG	APC	0.293492643	9.33E-05	Adhesion molecule	BrainSpLMD|324;Eurexp|euxassay_007660|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|11576	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611731;COSMIC||colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS, colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS;HPO|324|Abdominal pain, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Adenomatous colonic polyposis, Adrenocortical carcinoma, Astrocytoma, Autosomal dominant inheritance, Colon cancer, Desmoid tumors, Epidermoid cyst, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hyperpigmentation of the skin, Intestinal polyposis, Keloids, Malabsorption, Micronodular cirrhosis, Multiple gastric polyps, Multiple lipomas, Myalgia, Neoplasm of the stomach, Odontoma, Renal cell carcinoma, Small intestine carcinoid, Somatic mutation, Stomach cancer, Subacute progressive viral hepatitis, Subcutaneous nodule, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Variable expressivity
vRG	EVI5	0.559555294	9.78E-05	Unclassified	BrainSpLMD|7813;Eurexp|euxassay_001717|cervical, cervico-thoracic, lobe;BrainSpMouseDev|13797	OMIM|602942
vRG	CDCA7L	1.413863995	9.87E-05	Transcription factor	BrainSpLMD|55536;Eurexp|euxassay_003467|adenohypophysis, epidermis, fundus region, glomeruli, hindgut, left lung, lobe, lumen, lung, marginal layer, midgut, neural retina, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, respiratory, right lung, stomach, submandibular gland primordium, testis, thymus primordium, trachea, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|85297	OMIM|609685
vRG	SPRED1	0.687113658	0.000100904	Unclassified	BrainSpLMD|161742	OMIM|609291;HPO|161742|Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Axillary freckling, Cafe-au-lait spot, Downslanted palpebral fissures, Epicanthus, Generalized hypotonia, High, narrow palate, Hypertelorism, Low posterior hairline, Low-set, posteriorly rotated ears, Macrocephaly, Micrognathia, Multiple lipomas, Neurofibromas, Ptosis, Short neck, Specific learning disability, Triangular face
vRG	MAPK1	0.822888064	0.000111721	Serine/threonine kinase	BrainSpLMD|5594	SFARI||Autism, 5 - Hypothesized but untested;OMIM|176948;COSMIC||CLL, ovarian mixed germ cell tumour, cervical carcinoma;HPO|5594|Abnormality of earlobe, Absent fingernail, Absent toenail, Clinodactyly of the 5th finger, Deeply set eye, Global developmental delay, Highly arched eyebrow, Intellectual disability, Intrauterine growth retardation, Language impairment, Microcephaly, Neoplasm, Pes planus, Pointed chin, Premature birth, Short stature, Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Underdeveloped nasal alae
vRG	GSTP1	0.653609687	0.000122953	Enzyme: Glutathione transferase	BrainSpLMD|2950;Eurexp|euxassay_006221|lobe	OMIM|134660
vRG	MID1	0.570111439	0.000128131	Transcription regulatory protein;Ubiquitin proteasome system protein	BrainSpLMD|4281;Eurexp|euxassay_013835|excretory component, marginal layer, neural retina, ventricular layer;BrainSpMouseDev|17087	OMIM|300552;HPO|4281|Abnormal heart morphology, Abnormality of the nasopharynx, Agenesis of corpus callosum, Anal atresia, Anteverted nares, Aspiration, Cleft palate, Cleft upper lip, Cryptorchidism, Dysphagia, Esophageal atresia, Frontal bossing, Gastroesophageal reflux, Global developmental delay, Heterogeneous, High palate, Hypertelorism, Hypospadias, Posterior pharyngeal cleft, Prominent forehead, Smooth philtrum, Telecanthus, Thin upper lip vermilion, Tracheoesophageal fistula, Wide nasal bridge, Widow's peak, X-linked recessive inheritance
vRG	NTRK3	1.097041425	0.000129957	Receptor tyrosine kinase	BrainSpLMD|4916;Eurexp|euxassay_017897|corpus striatum, dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|17980	SFARI||Autism, 4 - Minimal evidence;OMIM|191316;COSMIC||congenital fibrosarcoma, secretory breast
vRG	PDGFD	1.224743239	0.000134108	Growth factor	BrainSpLMD|80310;BrainSpMouseDev|47626	OMIM|609673
vRG	SPAG9	0.529095586	0.000139135	Integral membrane protein	BrainSpLMD|9043;Eurexp|euxassay_014482|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vestibulocochlear VIII	OMIM|605430
vRG	CTNNA1	0.991350223	0.000140157	Cytoskeletal protein	BrainSpLMD|1495;Eurexp|euxassay_018188|embryo	OMIM|116805;HPO|1495|Autosomal dominant inheritance
vRG	PRKD1	0.92528799	0.000143418	Serine/threonine kinase	BrainSpLMD|5587	SFARI||Autism, No category;OMIM|605435;HPO|5587|Autosomal dominant inheritance, Broad thumb, Delayed speech and language development, Depressed nasal bridge, Dry skin, Feeding difficulties, Fragile nails, Generalized hypotonia, Global developmental delay, Microcephaly, Microdontia, Nystagmus, Premature loss of primary teeth, Prominent forehead, Prominent nasal bridge, Scoliosis, Sparse scalp hair, Syndactyly, Thin skin, Widely spaced teeth
vRG	CLDND1	0.423099432	0.000143431	Unclassified	BrainSpLMD|56650;Eurexp|euxassay_006238|embryo	
vRG	RPS27L	0.719674281	0.000143889	Unclassified	BrainSpLMD|51065;Eurexp|euxassay_013950|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, pancreas, primitive seminiferous tubules, rest of mesenchyme, right lung, skeletal muscle, submandibular gland primordium, thymus primordium, tongue, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|612055
vRG	NUMA1	0.294405985	0.000145542	Structural protein	BrainSpLMD|4926;Eurexp|euxassay_010729|olfactory lobe, ventricular layer	OMIM|164009;COSMIC||APL;HPO|4926|Abnormality of cells of the granulocytic lineage, Acute promyelocytic leukemia, Somatic mutation
vRG	SLC25A37	0.898149656	0.000146166	Transport/cargo protein	BrainSpLMD|51312;Eurexp|euxassay_007768|liver, mesenchyme	OMIM|610387
vRG	ARHGEF40	0.754943926	0.00014768		BrainSpLMD|55701	OMIM|610018
vRG	RP11.553L6.5	0.272547246	0.000168249			
vRG	BARD1	0.559587084	0.00018397	Transcription regulatory protein	BrainSpLMD|580	OMIM|601593;COSMIC||breast cancer, ovarian cancer, breast cancer, endometrioid cancer;HPO|580|Abnormality of the fallopian tube, Breast carcinoma, Ovarian neoplasm, Primary peritoneal carcinoma
vRG	9-Sep	0.946467679	0.000191835			
vRG	MAGI1	0.510745618	0.000204828	Cell junction protein	BrainSpLMD|9223;Eurexp|euxassay_016214|axial skeleton, clavicle, femur, fibula, humerus, pelvic girdle, rib, scapula, tibia	OMIM|602625
vRG	RBM39	0.25586947	0.000206651	RNA binding protein;Transcription regulatory protein	BrainSpLMD|9584	OMIM|604739
vRG	ANXA5	0.638524395	0.000216733	Calcium binding protein	BrainSpLMD|308;Eurexp|euxassay_002158|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, meninges, renal/urinary system, reproductive system, respiratory system, tail	OMIM|131230
vRG	STK17B	0.815951868	0.000220415	Serine/threonine kinase	BrainSpLMD|9262	OMIM|604727
vRG	NCAM2	0.374645195	0.000220464	Adhesion molecule	BrainSpLMD|4685;BrainSpMouseDev|17735	OMIM|602040
vRG	AP000936.1	0.941166966	0.000228749			
vRG	BICD1	0.253338117	0.00023248	Transport/cargo protein	BrainSpLMD|636;Eurexp|euxassay_001764|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|11907	OMIM|602204
vRG	SEMA5B	0.646427842	0.000234153	Integral membrane protein	BrainSpLMD|54437;BrainSpMouseDev|20120	OMIM|609298
vRG	TMX1	0.588565542	0.000245043	Enzyme: Oxidoreductase	BrainSpLMD|81542	OMIM|610527
vRG	EMC2	1.031706325	0.000245538	Unclassified	BrainSpLMD|9694	OMIM|607722
vRG	ZDHHC2	0.642747685	0.000250825	Integral membrane protein	BrainSpLMD|51201;Eurexp|euxassay_000126|abducent VI, accessory XI, autonomic, basal plate, cervico-thoracic, corpus striatum, cranial, diencephalon, dorsal root ganglion, facial VII, gland, glossopharyngeal IX, hypoglossal XII, hypothalamus, inferior, lamina terminalis, lateral wall, mandibular division, mantle layer, maxillary division, nerve plexus, oculomotor III, olfactory I, olfactory cortex, olfactory lobe, ophthalmic division, optic II, parasympathetic, spinal cord, sulcus limitans, sympathetic, tegmentum, thalamus, thoracic, trigeminal V, trochlear IV, vagus X, vestibulocochlear VIII;BrainSpMouseDev|46387	
vRG	ATP10D	0.805424402	0.000254151	ATPase	BrainSpLMD|57205	
vRG	TLK1	0.393626803	0.000277909	Serine/threonine kinase	BrainSpLMD|9874	OMIM|608438
vRG	PTPRG	0.914199852	0.000297551	Receptor tyrosine phosphatase	BrainSpLMD|5793	OMIM|176886
vRG	SH3BGRL	0.437586961	0.000318023	Unclassified	BrainSpLMD|6451	OMIM|300190
vRG	WBP5	0.286191666	0.000348436			
vRG	3-Sep	0.397115994	0.000359474			
vRG	PELI2	0.718476861	0.000364504	Unclassified	BrainSpLMD|57161;Eurexp|euxassay_014344|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|614798
vRG	TPI1	0.656095764	0.000376303	Enzyme: Isomerase	BrainSpLMD|7167	OMIM|190450;HPO|7167|Abnormality of immune system physiology, Autosomal recessive inheritance, Central nervous system degeneration, Cholecystitis, Cholelithiasis, Chronic hemolytic anemia, Congestive heart failure, Diaphragmatic paralysis, Dystonia, Generalized hypotonia, Global developmental delay, Hemolytic anemia, Hyporeflexia, Jaundice, Kyphosis, Muscular hypotonia, Myopathy, Normochromic anemia, Normocytic anemia, Peripheral neuropathy, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Splenomegaly, Tremor, Unsteady gait
vRG	MMAB	2.009155915	0.000388003	Enzyme: Adenosyltransferase	BrainSpLMD|326625	OMIM|607568;HPO|326625|Anemia, Autosomal recessive inheritance, Coma, Decreased adenosylcobalamin, Decreased methylmalonyl-CoA mutase activity, Dehydration, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Ketonuria, Ketosis, Lethargy, Metabolic acidosis, Methylmalonic acidemia, Methylmalonic aciduria, Neonatal onset, Neutropenia, Pancytopenia, Respiratory distress, Thrombocytopenia, Vomiting
vRG	EEF1D	0.46909387	0.000408694	Guanine nucleotide exchange factor	BrainSpLMD|1936	OMIM|130592
vRG	CNTNAP3B	0.915848499	0.000417204			
vRG	TAOK2	0.965538922	0.000432778	Serine/threonine kinase	BrainSpLMD|9344	OMIM|613199
vRG	ATXN2	0.559904062	0.000465221	RNA binding protein	BrainSpLMD|6311;Eurexp|euxassay_013424|dorsal root ganglion, facial VII, glossopharyngeal IX, lens, neural retina, submandibular gland primordium, trigeminal V, ventral grey horn	OMIM|601517;HPO|6311|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Bradykinesia, Dementia, Depressivity, Dilated fourth ventricle, Distal amyotrophy, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Dysphagia, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Gaze-evoked nystagmus, Generalized hypotonia, Generalized muscle weakness, Genetic anticipation, Hyporeflexia, Impaired horizontal smooth pursuit, Impaired vibratory sensation, Limb ataxia, Muscle cramps, Myoclonus, Neurodegeneration, Oculomotor apraxia, Olivopontocerebellar atrophy, Ophthalmoplegia, Pain, Paralysis, Postural instability, Postural tremor, Progressive cerebellar ataxia, Respiratory failure, Rigidity, Rod-cone dystrophy, Skeletal muscle atrophy, Slow saccadic eye movements, Spasticity, Spinocerebellar tract degeneration, Urinary bladder sphincter dysfunction, Xerostomia
vRG	NBPF12	0.409006641	0.000476844			OMIM|608607
vRG	ELOVL5	1.025892492	0.000479526	Unclassified	BrainSpLMD|60481	OMIM|611805;HPO|60481|Autosomal dominant inheritance, Cerebellar atrophy, Dysarthria, Gait ataxia, Limb ataxia, Nystagmus, Slow progression, Slow saccadic eye movements
vRG	RDX	0.677338093	0.000491627	Cytoskeletal associated protein	BrainSpLMD|5962	OMIM|179410;HPO|5962|Autosomal recessive inheritance, Infantile onset, Profound sensorineural hearing impairment
vRG	H6PD	0.550409984	0.000545293	Enzyme: Dehydrogenase	BrainSpLMD|9563	OMIM|138090;HPO|9563|Acne, Autosomal recessive inheritance, Hirsutism, Infertility, Obesity, Oligomenorrhea
vRG	LINC00263	0.797275357	0.000560673			
vRG	FERMT2	0.66716583	0.000571003	Cytoskeletal protein	BrainSpLMD|10979;Eurexp|euxassay_012610|hindgut, metanephros, midgut, stomach, ventricular layer, wall	OMIM|607746
vRG	TJP1	0.782350578	0.000593938	Cell junction protein	BrainSpLMD|7082;Eurexp|euxassay_018809|brain, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, left lung, meninges, metanephros, right lung, spinal cord, trigeminal V	OMIM|601009
vRG	RAB31	1.053955295	0.000676631	GTPase	BrainSpLMD|11031;Eurexp|euxassay_003248|axial muscle, basal plate, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, submandibular gland primordium, thoracic, trigeminal V, vagus X, vibrissa	OMIM|605694
vRG	KLF6	0.414379413	0.000706871	Transcription factor	BrainSpLMD|1316;Eurexp|euxassay_018886|mantle layer, marginal layer;BrainSpMouseDev|23602	OMIM|602053;COSMIC||prostate, glioma;HPO|1316|Autosomal dominant inheritance, Prostate cancer, Somatic mutation, Stomach cancer
vRG	SALL2	1.400835682	0.000734507	Transcription factor	BrainSpLMD|6297;BrainSpMouseDev|30014	OMIM|602219;HPO|6297|Autosomal recessive inheritance, Coloboma, Reduced visual acuity, Visual impairment
vRG	NES	0.987402068	0.000738809	Cytoskeletal protein	BrainSpLMD|10763;Eurexp|euxassay_017860|calyces, diaphragm, head mesenchyme, meninges, mesenchyme, skeletal muscle, tongue, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|17775	OMIM|600915
vRG	WIPF3	0.400154555	0.000751149	Cytoskeletal associated protein	BrainSpLMD|644150	OMIM|612432
vRG	FLCN	0.956918843	0.000762005	Unclassified	BrainSpLMD|201163	OMIM|607273;COSMIC||renal, fibrofolliculomas, trichodiscomas;HPO|201163|Abnormal renal morphology, Abnormality of abdomen morphology, Abnormality of retinal pigmentation, Abnormality of the cardiovascular system, Abnormality of the hair, Abnormality of the pleura, Autism, Autosomal dominant inheritance, Broad forehead, Delayed myelination, Dental crowding, Dental malocclusion, Downslanted palpebral fissures, Dysphasia, EEG abnormality, Echolalia, Emphysema, Expressive language delay, Failure to thrive, Feeding difficulties in infancy, Fibrofolliculoma, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hearing impairment, Hereditary nonpolyposis colorectal carcinoma, High palate, Hyperactivity, Hypermetropia, Hypertelorism, Hypocholesterolemia, Hypoplasia of the corpus callosum, Incomplete penetrance, Intellectual disability, mild, Language impairment, Mandibular prognathia, Microcephaly, Micrognathia, Multiple lipomas, Neoplasm of the stomach, Oral-pharyngeal dysphagia, Papule, Patent foramen ovale, Phenotypic variability, Pneumothorax, Poor eye contact, Prominent nasal tip, Pulmonary sequestration, Receptive language delay, Renal cell carcinoma, Renal cyst, Scoliosis, Seizures, Short stature, Skin tags, Sleep apnea, Small for gestational age, Smooth philtrum, Spontaneous pneumothorax, Sporadic, Stereotypy, Transitional cell carcinoma of the bladder, Triangular face, Trigonocephaly, Uterine leiomyosarcoma, Wide mouth
vRG	PDGFC	0.923652902	0.00079217	Growth factor	BrainSpLMD|56034;Eurexp|euxassay_003799|choroid plexus, cochlea, cochlear duct, cortex, epithelium, fundus region, gland, head mesenchyme, hindgut, left lung, loop, marginal layer, mesenchyme, midgut, naris, oesophagus, olfactory, penis, pharyngo-tympanic tube, rectum, respiratory, right lung, skeletal muscle, stomach, submandibular gland primordium, tongue, urethra, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|33926	OMIM|608452
vRG	DNAJC1	0.589309666	0.000839311	Chaperone	BrainSpLMD|64215	OMIM|611207
vRG	HTRA1	0.722505804	0.000844796	Serine protease	BrainSpLMD|5654;Eurexp|euxassay_005061|anterior abdominal wall, aorta, axial muscle, axial skeleton, choroid plexus, diaphragm, humerus, incisor, lung, mesenchyme, metatarsus, molar, nucleus pulposus, pancreas, pelvic girdle, pharyngo-tympanic tube, rest of mesenchyme, rest of mesencyme, roof plate, scapula, skeletal muscle, sternum, tongue, trachea, ventricular layer, vibrissa	OMIM|602194;HPO|5654|Abnormality of extrapyramidal motor function, Alopecia, Arteriosclerosis of small cerebral arteries, Ataxia, Autosomal recessive inheritance, Babinski sign, Dementia, Diffuse demyelination of the cerebral white matter, Diffuse white matter abnormalities, Dysarthria, Gait disturbance, Hyperreflexia, Leukoencephalopathy, Low back pain, Progressive encephalopathy, Pseudobulbar signs, Rigidity, Spasticity, Urinary incontinence
vRG	CTDSP2	0.644042775	0.000846397	Enzyme: Phosphatase	BrainSpLMD|10106;Eurexp|euxassay_004324|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail	OMIM|608711
vRG	TBC1D1	1.138144258	0.000934962	Unclassified	BrainSpLMD|23216	OMIM|609850
vRG	TSPAN5	0.98606164	0.000959781	Integral membrane protein	BrainSpLMD|10098	OMIM|613136
vRG	ATXN7	1.004613832	0.000960262	Unclassified	BrainSpLMD|6314;Eurexp|euxassay_007505|alimentary system, cardiovascular system, cavities and their linings, ganglion, gland, integumental system, limb, mantle layer, mesenchyme, nerve, peripheral nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system	SFARI||Autism, 5 - Hypothesized but untested;OMIM|607640;HPO|6314|Abnormality of extrapyramidal motor function, Autosomal dominant inheritance, Babinski sign, Chorea, Dysmetria, Dysphagia, Genetic anticipation with paternal anticipation bias, Macular degeneration, Olivopontocerebellar atrophy, Orofacial dyskinesia, Pigmentary retinal degeneration, Progressive visual loss, Slow saccadic eye movements, Spasticity, Supranuclear ophthalmoplegia
vRG	HSDL2	0.757436818	0.00099008	Unclassified	BrainSpLMD|84263	
vRG	JADE1	0.79033493	0.001124829	Unclassified	BrainSpLMD|79960	OMIM|610514
vRG	GCA	0.901792162	0.001171948	Calcium binding protein	BrainSpLMD|25801;Eurexp|euxassay_012524|ventricular layer	OMIM|607030
vRG	ZCCHC3	0.731134229	0.001189702	Unclassified	BrainSpLMD|85364;Eurexp|euxassay_012888|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, humerus, mantle layer, orbito-sphenoid, pelvic girdle, rib, scapula, temporal bone, vault of skull, ventral grey horn	
vRG	PTPN13	0.863039789	0.001225918	Tyrosine phosphatase	BrainSpLMD|5783	OMIM|600267;COSMIC||lung, NSCLC, gastric, peritoneal carcinomatosis, hepatocellular
vRG	LINC00925	0.626893668	0.001284068			
vRG	SIPA1L1	0.863712297	0.001307003	GTPase activating protein	BrainSpLMD|26037	OMIM|617504
vRG	CNTLN	1.07881085	0.001381268	Unclassified	BrainSpLMD|54875	OMIM|611870
vRG	ACBD5	0.946704328	0.001428974	Unclassified	BrainSpLMD|91452;Eurexp|euxassay_004319|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|616618
vRG	SLC12A2	0.731530199	0.0014467	Membrane transport protein	BrainSpLMD|6558;Eurexp|euxassay_008837|cortex, incisor, left lung, midgut, olfactory, pharyngo-tympanic tube, rectum, right lung, stomach, submandibular gland primordium;BrainSpMouseDev|20258	OMIM|600840
vRG	ZEB1	0.62153501	0.001506069	Transcription factor	BrainSpLMD|6935;Eurexp|euxassay_015398|central nervous system, meninges, vertebral axis muscle system;BrainSpMouseDev|21178	OMIM|189909;COSMIC||CCRCC, melanoma;HPO|6935|Autosomal dominant inheritance, Corneal dystrophy, Corneal guttata
vRG	C1orf198	0.796386529	0.001509466	Unclassified	BrainSpLMD|84886;Eurexp|euxassay_016413|dorsal root ganglion, neural retina, ventral grey horn, ventricular layer	
vRG	CTNND1	0.523299515	0.001559257	Adhesion molecule	BrainSpLMD|1500;BrainSpMouseDev|12173	OMIM|601045;COSMIC||large intestine carcinoma
vRG	TGIF1	1.137707722	0.00156862	Transcription factor	BrainSpLMD|7050;Eurexp|euxassay_007804|cortex, fundus region, hindgut, lung, midgut, oesophagus, rectum, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|21574	OMIM|602630;HPO|7050|Absent nasal septal cartilage, Autosomal dominant inheritance, Depressed nasal bridge, Depressed nasal tip, Hypotelorism, Median cleft lip, Median cleft lip and palate, Ptosis, Semilobar holoprosencephaly
vRG	FAM213A	0.276664813	0.001580471	Unclassified	BrainSpLMD|84293;Eurexp|euxassay_008864|bladder, brain, calyces, cervical, cervico-thoracic, cochlea, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, incisor, left lung, liver, lung, midgut, molar, naris, nasal cavity, naso-lacrimal duct, olfactory, pelvis, pharyngo-tympanic tube, rectum, retina, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thoracic, trigeminal V, ureter, utricle, vagus X, vestibulocochlear VIII, vibrissa	OMIM|617165
vRG	TLE4	0.262879774	0.001677616	Transcription factor	BrainSpLMD|7091;Eurexp|euxassay_018870|calyces, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|21647	OMIM|605132
vRG	RALGAPA2	0.411690417	0.001682897	Unclassified	BrainSpLMD|57186	
vRG	NRBP2	1.090820081	0.001720973	Unclassified	BrainSpLMD|340371	OMIM|615563
vRG	RGS16	0.304898827	0.001755853	GTPase activating protein	BrainSpLMD|6004;Eurexp|euxassay_006229|diaphragm, dorsal grey horn, lip, mantle layer, marginal layer, mesenchyme, neural retina, skeletal muscle, ventricular layer, vertebral axis muscle system	OMIM|602514
vRG	FAT1	0.924518329	0.001792039	Adhesion molecule	BrainSpLMD|2195;Eurexp|euxassay_013462|axial skeleton, lung, mandible, maxilla, mesenchyme, rest of mesenchyme, sternum, submandibular gland primordium, vibrissa;BrainSpMouseDev|13884	SFARI||Autism, No category;OMIM|600976;COSMIC||oral squamous cell, chemorefractory CLL, head and neck, pancreatic acinar cell carcinoma, pancreatic
vRG	LINC00478	0.271338722	0.0018251			
vRG	NBPF8	0.860678667	0.001830457			OMIM|613998
vRG	PDCD6	0.500787509	0.002076926	Calcium binding protein		OMIM|601057
vRG	TCEB3	0.257994852	0.002153169			
vRG	MEIS2	0.521547327	0.002194241	Transcription factor	BrainSpLMD|4212;BrainSpMouseDev|17303	OMIM|601740;HPO|4212|2-3 toe syndactyly, Atrial septal defect, Autistic behavior, Autosomal dominant inheritance, Biparietal narrowing, Broad hallux, Broad thumb, Cleft palate, Cleft upper lip, Coarctation of aorta, Deeply set eye, Delayed speech and language development, Gastroesophageal reflux, Global developmental delay, High anterior hairline, Highly arched eyebrow, Intellectual disability, Large forehead, Microcephaly, Narrow forehead, Pointed chin, Sandal gap, Short 2nd finger, Short 5th finger, Short philtrum, Short stature, Smooth philtrum, Sparse eyebrow, Tented upper lip vermilion, Upslanted palpebral fissure, Ventricular septal defect
vRG	CHP1	0.31209213	0.002255097		BrainSpLMD|11261	OMIM|606988
vRG	SMAD5	0.679735982	0.002312375	Transcription regulatory protein	BrainSpLMD|4090;Eurexp|euxassay_019553|incisor, lung, mantle layer, metanephros, molar, saccule, spleen primordium, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|16899	OMIM|603110
vRG	NAPEPLD	1.194955769	0.002321108	Enzyme: Phospholipase	BrainSpLMD|222236	OMIM|612334
vRG	HSPH1	0.292663048	0.002352398	Heat shock protein;Chaperone	BrainSpLMD|10808	OMIM|610703
vRG	PDCD10	0.883298271	0.002395168	Unclassified	BrainSpLMD|11235	OMIM|609118;HPO|11235|Abnormality of the cerebrum, Cerebral hemorrhage, Focal T2 hyperintense brainstem lesion, Focal T2 hypointense brainstem lesion, Headache, Increased intracranial pressure, Meningioma, Neuroma, Paralysis, Scoliosis, Seizures
vRG	IRF2BP2	0.573785143	0.002452373	Transcription regulatory protein	BrainSpLMD|359948	OMIM|615332
vRG	AKAP13	0.483327234	0.002589866	Guanine nucleotide exchange factor	BrainSpLMD|11214	OMIM|604686
vRG	LPP	0.736156676	0.002663796	Unclassified	BrainSpLMD|4026	OMIM|600700;COSMIC||lipoma, leukaemia
vRG	SQLE	0.612184831	0.002669644	Enzyme: Oxygenase	BrainSpLMD|6713	OMIM|602019
vRG	DMD	0.816820078	0.002671295	Structural protein	BrainSpLMD|1756;Eurexp|euxassay_010997|incisor, lateral wall, mantle layer, molar, ventricular layer, vibrissa	SFARI||Autism, No category;OMIM|300377;HPO|1756|Abnormal urinary color, Adult onset, Arrhythmia, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Childhood onset, Cognitive impairment, Congestive heart failure, Delayed speech and language development, Difficulty climbing stairs, Difficulty walking, Dilated cardiomyopathy, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Exercise intolerance, Falls, Fatigue, Flexion contracture, Generalized hypotonia, Global developmental delay, Gowers sign, Hyperlordosis, Hyporeflexia, Hypoventilation, Intellectual disability, Intellectual disability, mild, Motor delay, Muscle cramps, Muscle weakness, Muscular dystrophy, Myalgia, Myoglobinuria, Progressive muscle weakness, Proximal muscle weakness, Respiratory failure, Respiratory insufficiency, Scoliosis, Skeletal muscle atrophy, Specific learning disability, Waddling gait, X-linked inheritance, X-linked recessive inheritance
vRG	VCL	0.637650889	0.002677234	Cytoskeletal associated protein	BrainSpLMD|7414	OMIM|193065;HPO|7414|Autosomal dominant inheritance, Congestive heart failure, Dilated cardiomyopathy, Dyspnea, Endocardial fibrosis, Hypertrophic cardiomyopathy
vRG	HIGD1A	0.682300973	0.002895001	Integral membrane protein		
vRG	TOX	0.480896747	0.002934328	DNA binding protein	BrainSpLMD|9760;Eurexp|euxassay_006612|axial skeleton, cervical, cervico-thoracic, clavicle, cricoid, diencephalon, exoccipital bone, femur, hindbrain, inner ear, lip, lung, mandible, mantle layer, mesenchyme, metanephros, metatarsus, midbrain, nasal septum, neural retina, orbito-sphenoid, pelvic girdle, penis, phalanx, rib, scapula, stomach, telencephalon, thoracic, thymus primordium, thyroid, turbinate, vault of skull, vibrissa, vomeronasal organ;BrainSpMouseDev|89963	OMIM|606863
vRG	MLEC	1.53113333	0.003005568	Unclassified	BrainSpLMD|9761;Eurexp|euxassay_016414|clavicle, lung, mandible, maxilla, orbito-sphenoid, submandibular gland primordium, temporal bone, turbinate	OMIM|613802
vRG	TSPAN3	0.679493985	0.00303261	Integral membrane protein	BrainSpLMD|10099;Eurexp|euxassay_011791|axial skeleton, basioccipital bone, basisphenoid bone, naris, nasal septum, orbito-sphenoid, otic capsule, petrous part, rib, turbinate bones	OMIM|613134
vRG	ENO1	0.672047843	0.003047412	Enzyme: Hydratase	BrainSpLMD|2023	OMIM|172430
vRG	PREX1	0.86695186	0.003121855	Guanine nucleotide exchange factor	BrainSpLMD|57580;Eurexp|euxassay_007998|femur, humerus, mandible, mantle layer, marginal layer, maxilla, orbito-sphenoid, palatal shelf, rib, ventricular layer	SFARI||Autism, 3 - Suggestive evidence;OMIM|606905
vRG	ABCD3	0.777503675	0.003145931	Integral membrane protein	BrainSpLMD|5825	OMIM|170995;HPO|5825|Autosomal recessive inheritance, Elevated hepatic transaminases, Hepatic failure, Hepatic fibrosis, Hepatomegaly, Infantile onset, Iron deficiency anemia, Jaundice, Progressive, Splenomegaly
vRG	MAT2B	0.537959043	0.003173618	Enzyme: Adenosyltransferase	BrainSpLMD|27430;Eurexp|euxassay_000623|olfactory	OMIM|605527
vRG	CAPN2	0.537248612	0.003373533	Cysteine protease	BrainSpLMD|824;Eurexp|euxassay_015893|floor plate, floorplate, mantle layer	OMIM|114230
vRG	ZFP36L2	0.510683962	0.003451876	Transcription factor	BrainSpLMD|678	OMIM|612053
vRG	OTUD7B	0.4683492	0.003500873	Ubiquitin proteasome system protein	BrainSpLMD|56957	OMIM|611748
vRG	RPL5P4	2.158266633	0.003568563			
vRG	LINC00674	0.80173667	0.003689534			
vRG	SRGAP3	0.544443061	0.003704466	GTPase activating protein	BrainSpLMD|9901	SFARI||Autism, 4 - Minimal evidence;OMIM|606525;COSMIC||pilocytic astrocytoma
vRG	PSAP	0.935516294	0.003709457	Integral membrane protein	BrainSpLMD|5660	OMIM|176801;HPO|5660|Abnormality of eye movement, Abnormality of glycosphingolipid metabolism, Abnormality of the periventricular white matter, Anemia, Autosomal recessive inheritance, Babinski sign, CNS demyelination, Central apnea, Cerebral dysmyelination, Congenital onset, Death in childhood, Death in infancy, Decreased nerve conduction velocity, Developmental regression, Dysarthria, Dysphagia, Dystonia, Erlenmeyer flask deformity of the femurs, Fasciculations, Feeding difficulties, Gait ataxia, Generalized clonic seizures, Generalized hypotonia, Generalized tonic-clonic seizures, Global brain atrophy, Global developmental delay, Hepatomegaly, Hepatosplenomegaly, Hyperkinesis, Hyperreflexia, Hypertonia, Hypoplasia of the corpus callosum, Hyporeflexia, Increased CSF protein, Increased cerebral lipofuscin, Infantile onset, Loss of speech, Mental deterioration, Muscle weakness, Muscular hypotonia, Myoclonus, Neuronal loss in central nervous system, Osteopenia, Peripheral demyelination, Polyneuropathy, Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Seizures, Spastic tetraparesis, Splenomegaly, Thrombocytopenia, Urinary incontinence, Variable expressivity
vRG	LPHN2	0.451380242	0.003731556			
vRG	SNRPGP10	0.551688316	0.003773291			
vRG	EIF2AK2	0.580092352	0.003808921	Serine/threonine kinase	BrainSpLMD|5610	OMIM|176871
vRG	DUSP10	0.769227268	0.003922286	Enzyme: Phosphatase;Enzyme: Phosphohydrolase	BrainSpLMD|11221	OMIM|608867
vRG	AP000962.2	0.875577786	0.003932614			
vRG	REEP3	0.480019131	0.004064351	Unclassified	BrainSpLMD|221035;Eurexp|euxassay_004457|digit 1, digit 2, digit 3, digit 4, digit 5, footplate, handplate, lower leg, trigeminal V, valve, ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|609348
vRG	RGL1	1.109529822	0.004131249	Guanine nucleotide exchange factor	BrainSpLMD|23179	OMIM|605667
vRG	DARS	0.72469123	0.004131808	ATPase	BrainSpLMD|1615	OMIM|603084;HPO|1615|Autosomal recessive inheritance, Babinski sign, CNS hypomyelination, Hyperreflexia, Hypoplasia of the corpus callosum, Infantile onset, Leukoencephalopathy, Motor delay, Muscular hypotonia of the trunk, Nystagmus, Progressive, Spasticity
vRG	RYK	0.370630605	0.004218626	Receptor tyrosine kinase	BrainSpLMD|6259;BrainSpMouseDev|19950	OMIM|600524
vRG	STX16	0.272557088	0.004230216	Transport/cargo protein	BrainSpLMD|8675;Eurexp|euxassay_014483|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vestibulocochlear VIII	OMIM|603666;HPO|8675|Autosomal dominant inheritance, Cataract, Delayed eruption of teeth, Depressed nasal bridge, Elevated circulating parathyroid hormone level, Full cheeks, Hyperphosphatemia, Hypocalcemia, Hypoplasia of dental enamel, Low urinary cyclic AMP response to PTH administration, Nystagmus, Pseudohypoparathyroidism, Round face, Short neck, Short stature, Sporadic
vRG	STAG2	0.438325101	0.004238716	Cell cycle control protein	BrainSpLMD|10735;Eurexp|euxassay_016892|ventricular layer	OMIM|300826;COSMIC||bladder carcinoma, glioblastoma, melanoma, Ewing's sarcoma, myeloid neoplasms
vRG	ITGAV	1.112767752	0.00426769	Cell surface receptor	BrainSpLMD|3685;Eurexp|euxassay_009584|brain, calyces, incisor, mandible, maxilla, mesenchyme, midgut, molar, spinal cord, stomach, submandibular gland primordium, ventricular layer;BrainSpMouseDev|16183	OMIM|193210;COSMIC||large intestine carcinoma
vRG	MTRNR2L12	0.587753421	0.004373341			
vRG	GPAM	1.076964526	0.00445032	Enzyme: Acyltransferase	BrainSpLMD|57678;Eurexp|euxassay_018573|left, right, ventricular layer	OMIM|602395
vRG	UBXN4	0.533355283	0.004455148	Unclassified	BrainSpLMD|23190;Eurexp|euxassay_008244|embryo	OMIM|611216
vRG	NDUFB5	1.420579991	0.004463471	Enzyme: Oxidoreductase	BrainSpLMD|4711	OMIM|603841
vRG	ARX	0.527443475	0.004545363	Transcription factor	BrainSpLMD|170302;Eurexp|euxassay_018148|floor plate, floorplate, mantle layer, mesenchyme, ovary, pancreas, paramesonephric duct, skeletal muscle, tarsus, ventricle, ventricular layer;BrainSpMouseDev|11665	SFARI||Autism, No category;OMIM|300382;HPO|170302|Abnormal hair pattern, Abnormality of skin morphology, Abnormality of the hip bone, Agenesis of corpus callosum, Ambiguous genitalia, Broad alveolar ridges, Choreoathetosis, Coarse facial features, Cryptorchidism, Death in infancy, Decreased testicular size, Delayed speech and language development, Developmental regression, Diarrhea, Duane anomaly, Dysarthria, Dysphagia, Dyspnea, Dystonia, EEG abnormality, Epileptic encephalopathy, Feeding difficulties in infancy, Flexion contracture, Focal dystonia, Generalized hirsutism, Generalized hypotonia, Generalized myoclonic seizures, Gliosis, Global developmental delay, Hemiplegia, High forehead, High palate, Hirsutism, Hyperconvex nail, Hyperreflexia, Hypohidrosis, Hypoplasia of penis, Hypospadias, Hypsarrhythmia, Infantile spasms, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Large eyes, Limb dystonia, Limb joint contracture, Lissencephaly, Long philtrum, Long upper lip, Low anterior hairline, Low-set ears, Lower limb spasticity, Malabsorption, Microcephaly, Micrognathia, Micropenis, Muscle stiffness, Muscular hypotonia, Muscular hypotonia of the trunk, Myoclonus, Neonatal hypotonia, Nystagmus, Optic atrophy, Overlapping toe, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Prominent supraorbital ridges, Protruding ear, Renal dysplasia, Rigidity, Scoliosis, Seizures, Severe global developmental delay, Short stature, Spastic tetraplegia, Spasticity, Specific learning disability, Status epilepticus, Strabismus, Synophrys, Tapered finger, Tetraplegia, Thin upper lip vermilion, Triangular face, Ventriculomegaly, Visual impairment, Wide anterior fontanel, Wide nasal bridge, X-linked inheritance, X-linked recessive inheritance
vRG	2-Sep	0.275819559	0.004573557			
vRG	DHCR24	0.63315844	0.004620294	Enzyme: Reductase	BrainSpLMD|1718;Eurexp|euxassay_011628|adrenal gland, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lobe, lung, mantle layer, marginal layer, midgut, molar, neural retina, olfactory, pharyngo-tympanic tube, rectum, respiratory, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ	OMIM|606418;HPO|1718|Absent septum pellucidum, Agenesis of corpus callosum, Anteverted nares, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Bifid uvula, Depressed nasal bridge, Failure to thrive, Feeding difficulties, Hydrocephalus, Intellectual disability, Intrauterine growth retardation, Large earlobe, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscle stiffness, Narrow mouth, Nystagmus, Partial agenesis of the corpus callosum, Phenotypic variability, Relative macrocephaly, Retrognathia, Rigidity, Seizures, Severe short stature, Short nose, Spasticity, Status epilepticus, Strabismus, Submucous cleft hard palate, Ventriculomegaly
vRG	ING3	0.631275831	0.005007098	Cell cycle control protein	BrainSpLMD|54556	OMIM|607493
vRG	AEBP2	0.565331997	0.005036653	DNA binding protein	BrainSpLMD|121536;Eurexp|euxassay_014332|footplate, handplate, thymus primordium, ventricular layer;BrainSpMouseDev|11356	
vRG	DTNA	0.748358587	0.005053421	Unclassified	BrainSpLMD|1837;Eurexp|euxassay_010455|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|601239;HPO|1837|Atrial fibrillation, Autosomal dominant inheritance, Congestive heart failure, Hypoplastic left heart, Left ventricular hypertrophy, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Patent ductus arteriosus, Sudden cardiac death, Ventricular arrhythmia, Ventricular septal defect
vRG	SRGAP2C	0.378056718	0.005140725			OMIM|614704
vRG	HSPA4L	0.805337387	0.005616108	Heat shock protein	BrainSpLMD|22824;Eurexp|euxassay_006441|cervico-thoracic, diencephalon, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, hindbrain, left, mantle layer, mesenchyme, midbrain, midgut, neural retina, olfactory, pituitary, posterior, right, skeletal muscle, spinal cord, thoracic, thymus primordium, trachea, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	
vRG	CANX	0.605827516	0.005642844	Chaperone	BrainSpLMD|821	OMIM|114217
vRG	DAG1	0.979357242	0.005703291	Adhesion molecule	BrainSpLMD|1605	OMIM|128239;HPO|1605|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Absent septum pellucidum, Absent speech, Agenesis of corpus callosum, Ankle contracture, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Autosomal recessive inheritance, Buphthalmos, Cataract, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral calcification, Chorioretinal dysplasia, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Delayed speech and language development, Elevated serum creatine phosphokinase, Generalized hypotonia, Glaucoma, Global developmental delay, Gowers sign, Hydrocephalus, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hyporeflexia, Infantile onset, Intellectual disability, Leukodystrophy, Limb-girdle muscle weakness, Lissencephaly, Lumbar hyperlordosis, Macrocephaly, Macrogyria, Metatarsus valgus, Microphthalmia, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Myopia, Optic atrophy, Pachygyria, Polymicrogyria, Poor head control, Respiratory failure, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Skeletal muscle atrophy, Specific learning disability, Variable expressivity, Ventriculomegaly
vRG	SYNE1	0.716145728	0.005734379	Unclassified	BrainSpLMD|23345	SFARI||Autism, 4 - Minimal evidence;OMIM|608441;HPO|23345|Adult onset, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Childhood onset, Dysarthria, Dysmetria, Elevated serum creatine phosphokinase, Gait ataxia, Left ventricular septal hypertrophy, Limb ataxia, Muscular dystrophy, Neck muscle weakness, Nystagmus, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Slow progression
vRG	DAD1	0.454485933	0.005738848	Adapter molecule	BrainSpLMD|1603;Eurexp|euxassay_012117|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|600243
vRG	TMEM47	0.867428546	0.005853233	Integral membrane protein	BrainSpLMD|83604;Eurexp|euxassay_008336|ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|300698
vRG	NPHP3	0.739921005	0.006052116	Adapter molecule	BrainSpLMD|27031	OMIM|608002;HPO|27031|Abnormality of retinal pigmentation, Aortic valve stenosis, Asplenia, Atrial septal defect, Autosomal recessive inheritance, Bile duct proliferation, Biliary cirrhosis, Cholestasis, Cirrhosis, Dandy-Walker malformation, Enlarged kidney, Enuresis, Global developmental delay, Hepatic cysts, Hepatic fibrosis, Hepatomegaly, Hypertension, Intestinal malrotation, Nephronophthisis, Oligohydramnios, Pancreatic cysts, Pancreatic fibrosis, Patent ductus arteriosus, Polycystic kidney dysplasia, Polydipsia, Polysplenia, Polyuria, Potter facies, Premature ovarian insufficiency, Progressive visual loss, Pulmonary hypoplasia, Renal corticomedullary cysts, Renal dysplasia, Renal insufficiency, Retinal dystrophy, Short stature, Stage 5 chronic kidney disease, Tubular atrophy, Tubulointerstitial fibrosis, Visual impairment
vRG	STAT3	0.762421365	0.006064723	Transcription factor	BrainSpLMD|6774;Eurexp|euxassay_004868|axial skeleton, choroid invagination, dorsal grey horn, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mantle layer, mesenchyme, metatarsus, phalanx, thymus primordium, trigeminal V, ventral grey horn, ventricular layer;BrainSpMouseDev|20610	OMIM|102582;COSMIC||T-cell large granular lymphocytic leukaemia, paediatric large granular lymphocytic leukaemia, IPEX-like syndrome;HPO|6774|Abnormal heart morphology, Abnormality of the hair, Arthrogryposis multiplex congenita, Atelectasis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Autosomal dominant inheritance, Bilateral ptosis, Celiac disease, Chronic otitis media, Cleft palate, Coarse facial features, Contractures of the joints of the lower limbs, Cough, Decreased antibody level in blood, Deeply set eye, Dehydration, Delayed eruption of teeth, Downturned corners of mouth, Dystrophic fingernails, Eczema, Eczematoid dermatitis, Eosinophilia, Failure to thrive, Frontal bossing, Generalized abnormality of skin, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Gingivitis, Global developmental delay, Glycosuria, High palate, Hyperglycemia, Hypertelorism, Hypovolemia, Increased IgE level, Infantile onset, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Ketonuria, Microalbuminuria, Motor delay, Neonatal insulin-dependent diabetes mellitus, Osteopenia, Papule, Paronychia, Persistence of primary teeth, Prominent forehead, Prominent metopic ridge, Pruritus, Recurrent Staphylococcus aureus infections, Recurrent fractures, Recurrent fungal infections, Recurrent respiratory infections, Recurrent sinopulmonary infections, Reduced pancreatic beta cells, Retinopathy, Scoliosis, Short stature, Skin rash, Skin ulcer, Weight loss, Wide nasal bridge, Wide nose
vRG	CUL3	0.52662853	0.006152665	Ubiquitin proteasome system protein	BrainSpLMD|8452	SFARI||Autism, 1 - High confidence;OMIM|603136;COSMIC||lung cancer;HPO|8452|Autosomal dominant inheritance, Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia, Hypertension, Metabolic acidosis, Pseudohypoaldosteronism
vRG	TMEM161B.AS1	0.34371734	0.006164173			
vRG	TRIB2	0.509379297	0.006519922	Serine/threonine kinase	BrainSpLMD|28951;BrainSpMouseDev|85202	OMIM|609462
vRG	HNRNPA1L2	0.296492641	0.00662502	RNA binding protein		
vRG	PPA1	0.406930493	0.006911879	Enzyme: Phosphohydrolase	BrainSpLMD|5464;Eurexp|euxassay_004470|bladder, cranium, forelimb, hindlimb, incisor, lung, mandible, maxilla, mesenchyme, metanephros, midgut, nasal septum, olfactory, orbito-sphenoid, palatal shelf, pancreas, respiratory, submandibular gland primordium, tail, turbinate bones, vibrissa	OMIM|179030
vRG	PHYHIPL	0.810479083	0.006982492	Unclassified;Integral membrane protein	BrainSpLMD|84457;Eurexp|euxassay_002109|brain, dorsal root ganglion, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	
vRG	SGCE	0.607879514	0.007125373	Extracellular matrix protein	BrainSpLMD|8910	OMIM|604149;HPO|8910|Agoraphobia, Anxiety, Autosomal dominant inheritance, Depressivity, Incomplete penetrance, Juvenile onset, Myoclonus, Obsessive-compulsive behavior, Torticollis, Tremor, Writer's cramp
vRG	LPIN2	0.768756897	0.007156738	Unclassified	BrainSpLMD|9663	OMIM|605519;HPO|9663|Abnormality of bone marrow cell morphology, Acne, Arthralgia, Autosomal recessive inheritance, Bone pain, Cachexia, Chronic recurrent multifocal osteomyelitis, Congenital hypoplastic anemia, Edema, Failure to thrive, Fever, Flexion contracture, Growth delay, Headache, Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Inflammatory abnormality of the skin, Leukocytosis, Metaphyseal irregularity, Myalgia, Osteomyelitis, Papule, Pustule, Splenomegaly, Synovitis
vRG	KIF1B	0.443637177	0.007435154	Motor protein	BrainSpLMD|23095;Eurexp|euxassay_013179|diaphragm, floor plate, floorplate, footplate, handplate, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, ventricular layer, vertebral axis muscle system	OMIM|605995;HPO|23095|Areflexia, Autosomal dominant inheritance, Axonal degeneration/regeneration, Cafe-au-lait spot, Cerebral hemorrhage, Congenital cataract, Congestive heart failure, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Elevated urinary norepinephrine, Episodic hypertension, Foot dorsiflexor weakness, Hammertoe, Hemangioma, Heterogeneous, Hypercalcemia, Hyperhidrosis, Hypertensive retinopathy, Hyporeflexia, Neoplasm, Onion bulb formation, Onset, Peripheral axonal atrophy, Pes cavus, Pheochromocytoma, Positive regitine blocking test, Proteinuria, Renal artery stenosis, Slow progression, Steppage gait, Tachycardia
vRG	STK17A	0.722671862	0.007460242	Serine/threonine kinase	BrainSpLMD|9263	OMIM|604726
vRG	ITM2C	1.111243502	0.007557685	Integral membrane protein	BrainSpLMD|81618	OMIM|609554
vRG	MAGI2.AS3	1.072387536	0.007594799			
vRG	MYL12A	1.063771535	0.007823063	Calcium binding protein	BrainSpLMD|10627	
vRG	STK39	0.784867893	0.007955684	Serine/threonine kinase	BrainSpLMD|27347	SFARI||Autism, 4 - Minimal evidence;OMIM|607648
vRG	CHMP2A	0.386183082	0.008564923	Transport/cargo protein	BrainSpLMD|27243;Eurexp|euxassay_001955|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, olfactory, pancreas, rectum, spinal cord, thoracic, thymus primordium, trigeminal V, urethra, vibrissa	OMIM|610893
vRG	FOXK1	0.50060432	0.008613713	Transcription factor	Eurexp|euxassay_010907|floor plate, floorplate, mantle layer;BrainSpMouseDev|17193	OMIM|616302
vRG	MYEOV2	0.69756584	0.008716083			
vRG	PPP2CB	0.419189636	0.008750454	Serine/threonine phosphatase	BrainSpLMD|5516	OMIM|176916
vRG	MYL6	0.486738516	0.008843631	Cytoskeletal protein	BrainSpLMD|4637	OMIM|609931
vRG	CACYBP	0.377552103	0.009011653	Ubiquitin proteasome system protein	BrainSpLMD|27101;Eurexp|euxassay_006213|brain, cervical, cervico-thoracic, cortex, diencephalon, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, left, mandible, maxilla, midbrain, molar, olfactory, orbito-sphenoid, right, spinal cord, submandibular gland primordium, telencephalon, thoracic, thymus primordium, trigeminal V, vertebral axis muscle system, vibrissa	OMIM|606186
vRG	MEIS1	0.697388006	0.009257914	Transcription factor	BrainSpLMD|4211;Eurexp|euxassay_010373|cornea, epithelium, hindgut, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, respiratory, sublingual gland primordium, submandibular gland primordium, trachea, ventricular layer, vibrissa;BrainSpMouseDev|17037	OMIM|601739
vRG	PCMTD1	0.317841403	0.009334881	Unclassified	BrainSpLMD|115294;Eurexp|euxassay_011211|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, incisor, midbrain, molar, neural retina, spinal cord, submandibular gland primordium, testis, thymus primordium, thyroid, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	
vRG	ZC3HAV1	0.773342491	0.009361987	-	BrainSpLMD|56829;Eurexp|euxassay_012472|lobe, thymus primordium	OMIM|607312
vRG	SNX13	0.402621418	0.009409459	Transport/cargo protein	BrainSpLMD|23161	OMIM|606589
vRG	ALDOA	0.596317457	0.009479284	Enzyme: Lyase;Enzyme: Aldolase	BrainSpLMD|226	OMIM|103850;HPO|226|Autosomal recessive inheritance, Cholecystitis, Cholelithiasis, Delayed puberty, Epicanthus, Jaundice, Low posterior hairline, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Ptosis, Short neck, Short stature, Splenomegaly
vRG	GTF2H2	0.868901861	0.009486189	Transcription factor	Eurexp|euxassay_019537|incisor, liver, lung, metanephros, midgut, pancreas, submandibular gland primordium, thymus primordium, vibrissa	OMIM|601748
vRG	SERF2	0.398434227	0.009506417	RNA binding protein	BrainSpLMD|10169;Eurexp|euxassay_007238|cranium	OMIM|605054
vRG	ARL6IP5	0.491721777	0.009719697	Unclassified	BrainSpLMD|10550	OMIM|605709
RG-div1	ESPL1	2.605559055	0	Cysteine protease	BrainSpLMD|9700	OMIM|604143
RG-div1	KIF18B	2.588222384	0	Unclassified		OMIM|614570
RG-div1	BUB1B	2.428524755	0	Serine/threonine kinase	BrainSpLMD|701;Eurexp|euxassay_018755|cortex, ear, hindgut, incisor, lobe, lung, mandible, marginal layer, maxilla, midgut, molar, neural retina, oesophagus, olfactory, orbito-sphenoid, pancreas, rectum, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, trachea, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ, wall	OMIM|602860;COSMIC||rhabdomyosarcoma;HPO|701|Abnormality of vision, Agenesis of corpus callosum, Ambiguous genitalia, Anteverted nares, Ascites, Autosomal recessive inheritance, Bifid scrotum, Brachycephaly, Cataract, Cerebellar hypoplasia, Cerebral hypoplasia, Cleft palate, Combined immunodeficiency, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Epicanthus, Feeding difficulties in infancy, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Glaucoma, Global developmental delay, Hereditary nonpolyposis colorectal carcinoma, High forehead, Hydrocephalus, Hypertelorism, Hypodysplasia of the corpus callosum, Hypospadias, Increased nuchal translucency, Intellectual disability, Intellectual disability, profound, Intrauterine growth retardation, Leukemia, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Muscular dystrophy, Neoplasm of the stomach, Nephroblastoma, Nystagmus, Oligohydramnios, Phenotypic variability, Polyhydramnios, Posteriorly rotated ears, Postnatal growth retardation, Premature chromatid separation, Renal cell carcinoma, Renal cyst, Rhabdomyosarcoma, Severe global developmental delay, Short neck, Short nose, Short stature, Short sternum, Small for gestational age, Transitional cell carcinoma of the bladder, Triangular face, Triangular mouth, Upslanted palpebral fissure, Uterine leiomyosarcoma, Ventriculomegaly, Wide nose
RG-div1	KIF23	2.402187587	0	Motor protein	BrainSpLMD|9493;Eurexp|euxassay_006188|incisor, lung, mantle layer, marginal layer, olfactory, submandibular gland primordium, thymus primordium, thyroid, ventricular layer	OMIM|605064;HPO|9493|Abnormal cellular phenotype, Abnormal proerythroblast morphology, Anemia, Anisocytosis, Fatigue, Hyperbilirubinemia, Increased mean corpuscular volume, Increased serum iron, Increased total iron binding capacity, Poikilocytosis
RG-div1	ASF1B	2.390453302	0	Chaperone	BrainSpLMD|55723;Eurexp|euxassay_001590|basisphenoid bone, exoccipital bone, lobe, marginal layer, neural retina, orbito-sphenoid, otic capsule, submandibular gland primordium, temporal bone, thymus primordium, ventricular layer, vibrissa	OMIM|609190
RG-div1	E2F8	2.38264897	0	Transcription factor	BrainSpLMD|79733;BrainSpMouseDev|73120	OMIM|612047
RG-div1	TACC3	2.375751061	0	Cell cycle control protein	BrainSpLMD|10460;Eurexp|euxassay_003324|marginal layer, nucleus pulposus, optic chiasma, optic stalk, submandibular gland primordium, ventral grey horn, ventricular layer	OMIM|605303
RG-div1	LINC00669	2.361733222	0			
RG-div1	KIF15	2.305600921	0	Cell cycle control protein	BrainSpLMD|56992	OMIM|617569
RG-div1	AURKA	2.292713175	0	Serine/threonine kinase	BrainSpLMD|6790;Eurexp|euxassay_018753|orbito-sphenoid, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|603072
RG-div1	ECT2	2.291770714	0	Guanine nucleotide exchange factor	BrainSpLMD|1894;Eurexp|euxassay_018792|marginal layer, ventricular layer	OMIM|600586
RG-div1	CDK1	2.284480446	0	Serine/threonine kinase	BrainSpLMD|983	OMIM|116940
RG-div1	KIF4A	2.252085287	0	DNA binding protein	BrainSpLMD|24137;Eurexp|euxassay_017959|Meckel's cartilage, chondrocranium, incisor, nasal capsule	OMIM|300521;HPO|24137|Abnormal facial shape, Intellectual disability, Poor speech, Seizures, X-linked recessive inheritance
RG-div1	CDC25C	2.240514711	0	Dual specificity phosphatase	BrainSpLMD|995	OMIM|157680
RG-div1	NDC80	2.235101124	0	Cell cycle control protein	BrainSpLMD|10403;Eurexp|euxassay_006923|embryo	OMIM|607272
RG-div1	IQGAP3	2.219551409	0	GTPase activating protein	BrainSpLMD|128239	SFARI||Autism, 4 - Minimal evidence
RG-div1	ESCO2	2.20709715	0	Unclassified		OMIM|609353;HPO|157570|Abnormality of cardiovascular system morphology, Abnormality of the metacarpal bones, Absent earlobe, Absent radius, Accessory spleen, Ankle contracture, Aortic valve stenosis, Aplasia of the ulna, Aplasia/Hypoplasia of the thumb, Atrial septal defect, Autosomal recessive inheritance, Bicornuate uterus, Biliary tract abnormality, Blue sclerae, Bowing of the long bones, Brachycephaly, Brachydactyly, Cafe-au-lait spot, Cataract, Cleft eyelid, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Clitoral hypertrophy, Complete duplication of thumb phalanx, Cranial nerve paralysis, Craniosynostosis, Cryptorchidism, Cystic hygroma, Downslanted palpebral fissures, Elbow flexion contracture, Enlarged labia minora, External ear malformation, Fair hair, Frontal encephalocele, Global developmental delay, Hand oligodactyly, High palate, Hip contracture, Horseshoe kidney, Hydrocephalus, Hypertelorism, Hypoplasia of the radius, Hypospadias, Intellectual disability, Intrauterine growth retardation, Knee flexion contracture, Long penis, Low-set ears, Malar flattening, Mesomelic arm shortening, Microcephaly, Micrognathia, Microphthalmia, Midface capillary hemangioma, Narrow naris, Opacification of the corneal stroma, Patent ductus arteriosus, Phocomelia, Polycystic kidney dysplasia, Polyhydramnios, Posteriorly rotated ears, Postnatal growth retardation, Premature birth, Premature separation of centromeric heterochromatin, Proptosis, Proximal placement of thumb, Radial deviation of finger, Radioulnar synostosis, Seizures, Severe intrauterine growth retardation, Shallow orbits, Short neck, Short stature, Short thumb, Sparse hair, Syndactyly, Talipes equinovalgus, Tetraphocomelia, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide nasal bridge, Wormian bones, Wrist flexion contracture
RG-div1	NCAPH	2.20097591	0	Cell cycle control protein	BrainSpLMD|23397;Eurexp|euxassay_002558|ventricular layer	OMIM|602332
RG-div1	ARHGAP19	2.18194863	0	GTPase activating protein	BrainSpLMD|84986	OMIM|611587
RG-div1	HJURP	2.178955678	0	Unclassified	BrainSpLMD|55355	OMIM|612667
RG-div1	CDCA5	2.175013929	0	Unclassified	BrainSpLMD|113130	OMIM|609374
RG-div1	KIF24	2.173240814	0	Motor protein	BrainSpLMD|347240	OMIM|613747
RG-div1	TOP2A	2.17310895	0	Enzyme: Topoisomerase	BrainSpLMD|7153	OMIM|126430;HPO|7153|Elevated urinary catecholamines, Neoplasm of the nervous system
RG-div1	TPX2	2.159371782	0	Cell cycle control protein	BrainSpLMD|22974	OMIM|605917
RG-div1	ITGA2	2.143785715	0	Cell surface receptor	BrainSpLMD|3673;Eurexp|euxassay_009582|medulla	OMIM|192974;HPO|3673|Autosomal dominant inheritance, Bruising susceptibility, Congenital onset, Thrombocytopenia
RG-div1	SAMD4A	2.135945346	0	Unclassified	BrainSpLMD|23034	OMIM|610747
RG-div1	DIAPH3	2.129930002	0	Unclassified	BrainSpLMD|81624;Eurexp|euxassay_012699|incisor, molar, pituitary, submandibular gland primordium, ventricular layer, vibrissa	SFARI||Autism, 5 - Hypothesized but untested;OMIM|614567;HPO|81624|Abnormal auditory evoked potentials, Abnormal speech discrimination, Absence of acoustic reflex, Autosomal dominant inheritance, Sensorineural hearing impairment
RG-div1	CENPI	2.128621906	0	Unclassified	BrainSpLMD|2491	OMIM|300065
RG-div1	AURKB	2.112846829	0	Serine/threonine kinase	BrainSpLMD|9212	OMIM|604970
RG-div1	KIF20A	2.107309473	0	Motor protein	BrainSpLMD|10112;Eurexp|euxassay_004675|ventricular layer	OMIM|605664
RG-div1	NUF2	2.098436908	0	Cytoskeletal associated protein;Cell cycle control protein	BrainSpLMD|83540	OMIM|611772
RG-div1	KIF11	2.098220289	0	Motor protein	BrainSpLMD|3832	OMIM|148760;HPO|3832|Abnormal toenail morphology, Abnormality of retinal pigmentation, Anteverted nares, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Broad nasal tip, Chorioretinal dysplasia, Cortical gyral simplification, Deep philtrum, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Flat occiput, Global developmental delay, Intellectual disability, Intellectual disability, mild, Leukonychia, Long philtrum, Lymphedema, Mandibular prognathia, Melanonychia, Microcephaly, Muscular hypotonia, Myopia, Protruding ear, Sloping forehead, Specific learning disability, Thick lower lip vermilion, Thin upper lip vermilion
RG-div1	SGOL1	2.091420435	0			
RG-div1	BUB1	2.088016852	0	Serine/threonine kinase	BrainSpLMD|699;Eurexp|euxassay_018012|3rd ventricle, 4th ventricle, adrenal gland, cochlea, cochlear duct, cortex, foregut-midgut junction, incisor, liver, liver and biliary system, loop, lung, metanephros, midgut, molar, naris, pancreas, penis, retina, rib, submandibular gland primordium, testis, thymus primordium, tongue, turbinate bones, ventricular layer, vibrissa	OMIM|602452;HPO|699|Abnormality of vision, Ascites, Cataract, Corneal opacity, Dandy-Walker malformation, Epicanthus, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Polyhydramnios, Short stature, Triangular face
RG-div1	CENPE	2.078458575	0	DNA binding protein	BrainSpLMD|1062	OMIM|117143;HPO|1062|Abnormality of dental enamel, Absent earlobe, Autosomal recessive inheritance, Cachexia, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Hip dysplasia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Metaphyseal sclerosis, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Partial agenesis of the corpus callosum, Prematurely aged appearance, Prominent nose, Reduced number of teeth, Round face, Sandal gap, Seizures, Short foot, Short stature, Sloping forehead, Small hand, Sparse scalp hair
RG-div1	KIF2C	2.076383435	0	Motor protein	BrainSpLMD|11004;Eurexp|euxassay_003601|4th ventricle, bladder, forebrain, hindbrain, hindlimb, incisor, limb, liver, lung, metanephros, midbrain, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pancreas, penis, pharyngo-tympanic tube, respiratory, retina, spinal cord, submandibular gland primordium, testis, thymus primordium, thyroid, tongue, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|604538
RG-div1	SHCBP1	2.073221885	0	Unclassified	BrainSpLMD|79801;Eurexp|euxassay_006012|submandibular gland primordium, ventricular layer	OMIM|611027
RG-div1	PLK1	2.065616639	0	Serine/threonine kinase	BrainSpLMD|5347	OMIM|602098
RG-div1	MELK	2.057337179	0	Serine/threonine kinase	BrainSpLMD|9833;Eurexp|euxassay_018584|4th ventricle, choroid plexus, clavicle, cortex, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, hindgut, incisor, left, loop, lumen, mandible, mantle layer, maxilla, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, pancreas, rectum, renal/urinary system, respiratory, right, stomach, submandibular gland primordium, testis, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|607025
RG-div1	SGOL2	2.054640363	0			
RG-div1	GTSE1	2.052963101	0	Unclassified	BrainSpLMD|51512	OMIM|607477
RG-div1	CENPN	2.038495808	0	Unclassified	BrainSpLMD|55839	OMIM|611509
RG-div1	PBK	2.038144618	0	Serine/threonine kinase	BrainSpLMD|55872;Eurexp|euxassay_018747|adrenal gland, cervical, cervico-thoracic, incisor, liver, mandible, marginal layer, maxilla, metanephros, molar, naris, neural retina, olfactory, pancreas, sublingual gland primordium, thoracic, thymus primordium, thyroid, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|611210
RG-div1	LRIG3	2.03293911	0	Unclassified	BrainSpLMD|121227	OMIM|608870;COSMIC||NSCLC
RG-div1	FAM83D	2.031082649	0	Unclassified	BrainSpLMD|81610;Eurexp|euxassay_006378|olfactory, ventricular layer	
RG-div1	TROAP	2.026851328	0	Adhesion molecule	BrainSpLMD|10024	OMIM|603872
RG-div1	NUSAP1	2.02147279	0	Cell cycle control protein	BrainSpLMD|51203	OMIM|612818
RG-div1	DEPDC1	2.016830782	0	Unclassified	BrainSpLMD|55635	OMIM|612002
RG-div1	CKAP2L	2.016201565	0	Unclassified	BrainSpLMD|150468;Eurexp|euxassay_002011|thymus primordium, ventricular layer	OMIM|616174;HPO|150468|2-4 toe syndactyly, Aphasia, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Broad forehead, Cerebellar atrophy, Clinodactyly of the 5th finger, Cryptorchidism, Decreased body weight, Delayed skeletal maturation, Dysphasia, Dystonia, Echolalia, Finger syndactyly, Frontal bossing, Frontal hirsutism, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Low hanging columella, Microcephaly, Microdontia, Mutism, Optic atrophy, Postnatal growth retardation, Prominent forehead, Prominent nasal bridge, Proptosis, Seizures, Severe short stature, Short philtrum, Single transverse palmar crease, Specific learning disability, Thin vermilion border, Underdeveloped nasal alae, Ventricular septal defect, Visual impairment, Wide nasal bridge, Wide nose
RG-div1	RRM2	1.999619256	0	Cell cycle control protein	BrainSpLMD|6241;Eurexp|euxassay_004733|footplate, handplate, hindbrain, leg, liver, lung, mantle layer, mesenchyme, metanephros, olfactory, retina, spinal cord, tail, ventricular layer, vibrissa	OMIM|180390
RG-div1	C5orf34	1.998484107	0	Unclassified	BrainSpLMD|375444	
RG-div1	PHF19	1.992987421	0	Transcription regulatory protein	BrainSpLMD|26147;Eurexp|euxassay_004365|cortex, ventricular layer;BrainSpMouseDev|49857	OMIM|609740
RG-div1	PRR11	1.991688522	0	Unclassified	BrainSpLMD|55771	OMIM|615920
RG-div1	ARHGAP11B	1.990845826	0	Unclassified		SFARI||Autism, No category;OMIM|616310
RG-div1	CENPF	1.981646031	0	Cell cycle control protein	BrainSpLMD|1063	OMIM|600236
RG-div1	CDCA2	1.977992795	0	Unclassified	BrainSpLMD|157313;Eurexp|euxassay_000111|cortex, marginal layer, metanephros, midbrain, thalamus, ventricular layer	
RG-div1	SKA1	1.977232185	0	Unclassified	BrainSpLMD|220134	OMIM|616673
RG-div1	SPC25	1.973865854	0	Cell cycle control protein	BrainSpLMD|57405;Eurexp|euxassay_000451|mantle layer, medulla oblongata, ventral grey horn, ventricular layer	OMIM|609395
RG-div1	CCNB2	1.969975291	0	Cell cycle control protein	BrainSpLMD|9133;Eurexp|euxassay_004323|axial muscle, ventricular layer	OMIM|602755
RG-div1	PRC1	1.96995823	0	Cell cycle control protein	BrainSpLMD|9055	OMIM|603484
RG-div1	CCNB1	1.968679418	0	Cell cycle control protein	BrainSpLMD|891	OMIM|123836
RG-div1	MKI67	1.959908739	0	Cell cycle control protein	BrainSpLMD|4288	OMIM|176741
RG-div1	BRCA2	1.954351016	0	Transcription regulatory protein	BrainSpLMD|675;Eurexp|euxassay_019615|ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|600185;COSMIC||breast, ovarian, pancreatic, breast, ovarian, pancreatic, leukaemia  (FANCB, FANCD1);HPO|675|Abdominal pain, Abnormality of chromosome stability, Abnormality of the fallopian tube, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone marrow hypocellularity, Breast carcinoma, Chromosomal breakage induced by crosslinking agents, Esophageal atresia, Global developmental delay, Heterogeneous, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Nephroblastoma, Ovarian neoplasm, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Somatic mutation, Thrombocytopenia, Tracheoesophageal fistula
RG-div1	CKS2	1.952767889	0	Cell cycle control protein	BrainSpLMD|1164	OMIM|116901
RG-div1	TAGLN2	1.951968719	0	Unclassified	BrainSpLMD|8407;Eurexp|euxassay_001884|ventricular layer;BrainSpMouseDev|21107	OMIM|604634
RG-div1	TTK	1.949139949	0	Dual specificity kinase	BrainSpLMD|7272	OMIM|604092
RG-div1	PARPBP	1.943157815	0	Unclassified	BrainSpLMD|55010	OMIM|613687
RG-div1	HAUS8	1.936110317	0	Unclassified	BrainSpLMD|93323	OMIM|613434
RG-div1	FZD8	1.933973983	0	G protein coupled receptor	BrainSpLMD|8325;BrainSpMouseDev|14146	OMIM|606146
RG-div1	HIST1H1B	1.929965801	0	DNA binding protein	BrainSpLMD|3009;Eurexp|euxassay_012857|marginal layer, ventricular layer	OMIM|142711
RG-div1	PLK4	1.92192713	0	Serine/threonine kinase	BrainSpLMD|10733;Eurexp|euxassay_003979|Meckel's cartilage, clavicle, cranium, rib, turbinate	OMIM|605031;HPO|10733|Abnormality of dental enamel, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the eyelashes, Absent earlobe, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Autosomal recessive inheritance, Biparietal narrowing, Cachexia, Cataract, Cerebellar atrophy, Cerebral atrophy, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital onset, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Hip dysplasia, Hypertonia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Mild global developmental delay, Narrow face, Nystagmus, Optic atrophy, Pointed chin, Prematurely aged appearance, Protruding ear, Reduced number of teeth, Sandal gap, Scoliosis, Seizures, Short stature, Sloping forehead, Sparse scalp hair, Strabismus, Visual impairment, Wide nasal bridge
RG-div1	CD58	1.917108316	0	Unclassified	BrainSpLMD|965	OMIM|153420
RG-div1	RP11.303E16.2	1.913899337	0			
RG-div1	CDKN3	1.910139383	0	Dual specificity phosphatase	BrainSpLMD|1033;Eurexp|euxassay_014422|axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, orbito-sphenoid, pelvic girdle, temporal bone, tibia, turbinate, vault of skull	OMIM|123832
RG-div1	GINS1	1.909948981	0	Unclassified	BrainSpLMD|9837	OMIM|610608
RG-div1	FANCD2	1.907103316	0	Cell cycle control protein	BrainSpLMD|2177	OMIM|613984;COSMIC||AML, leukaemia;HPO|2177|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of skin pigmentation, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anemia, Anemic pallor, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bruising susceptibility, Cafe-au-lait spot, Chromosomal breakage induced by crosslinking agents, Complete duplication of thumb phalanx, Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Duplicated collecting system, Ectopic kidney, Esophageal atresia, Global developmental delay, Hearing impairment, Horseshoe kidney, Hypergonadotropic hypogonadism, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukemia, Leukopenia, Microcephaly, Microphthalmia, Neutropenia, Pancytopenia, Prolonged G2 phase of cell cycle, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Reticulocytopenia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Small for gestational age, Strabismus, Thrombocytopenia, Tracheoesophageal fistula
RG-div1	PSRC1	1.906147457	0	Unclassified	BrainSpLMD|84722;Eurexp|euxassay_003651|left lung, marginal layer, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|613126
RG-div1	SKA3	1.905125553	0	Unclassified	BrainSpLMD|221150;Eurexp|euxassay_011780|brain, choroid invagination, left lung, mantle layer, right lung, ventricle, vertebral axis muscle system	
RG-div1	KIF18A	1.901671775	0	Motor protein	BrainSpLMD|81930	OMIM|611271
RG-div1	ASPM	1.89942432	0	Unclassified	BrainSpLMD|259266	SFARI||Autism, 3 - Suggestive evidence;OMIM|605481;HPO|259266|Abnormal cortical bone morphology, Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Congenital onset, Cortical gyral simplification, Delayed speech and language development, Global developmental delay, Heterotopia, Highly arched eyebrow, Hyperreflexia, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Motor delay, Narrow forehead, Pachygyria, Proptosis, Short stature, Sloping forehead, Small cerebral cortex, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
RG-div1	PLCH1	1.88339565	0	Unclassified	BrainSpMouseDev|92752	OMIM|612835
RG-div1	CDCA3	1.878640916	0	Unclassified	BrainSpLMD|83461;Eurexp|euxassay_004852|cortex, left, marginal layer, mesenchyme, olfactory, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventral grey horn, ventricular layer	OMIM|607749
RG-div1	NCAPG	1.873630559	0	DNA binding protein	BrainSpLMD|64151;Eurexp|euxassay_013748|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|606280
RG-div1	POLQ	1.866749461	0	DNA polymerase	BrainSpLMD|10721	OMIM|604419;COSMIC||oral SCC, breast cancer
RG-div1	POC1A	1.853094845	0	Unclassified	BrainSpLMD|25886	OMIM|614783;HPO|25886|Autosomal recessive inheritance, Brachydactyly, Clinodactyly, Cone-shaped epiphysis, Disproportionate short stature, High pitched voice, Hypoplastic pelvis, Hypoplastic sacrum, Long face, Macrocephaly, Mandibular prognathia, Microcephaly, Microtia, Nail dysplasia, Oligospermia, Pointed chin, Prominent forehead, Prominent nose, Short distal phalanx of finger, Short femoral neck, Short metacarpal, Short metatarsal, Small for gestational age, Small hand, Small nail, Sparse hair, Triangular face, Waddling gait
RG-div1	XRCC2	1.851947534	0	DNA binding protein	BrainSpLMD|7516	OMIM|600375;HPO|7516|Abnormality of chromosome stability, Absent scaphoid, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Global developmental delay, Growth delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Patent ductus arteriosus, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia
RG-div1	MAD2L1	1.850804111	0	Cell cycle control protein	BrainSpLMD|4085	OMIM|601467
RG-div1	PHGDH	1.844065799	0	Enzyme: Dehydrogenase	BrainSpLMD|26227	OMIM|606879;HPO|26227|Ablepharon, Abnormality of the philtrum, Absent eyelashes, Absent septum pellucidum, Adducted thumb, Agenesis of corpus callosum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Bifid uterus, Broad foot, Calcaneovalgus deformity, Camptodactyly, Cataract, Cerebellar hypoplasia, Cerebral dysmyelination, Choroid plexus cyst, Cleft palate, Cleft upper lip, Clinodactyly, Congenital cataract, Congenital microcephaly, Cryptorchidism, Dandy-Walker malformation, Decreased fetal movement, Decreased testicular size, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Finger syndactyly, Generalized edema, Growth delay, Hydranencephaly, Hypertelorism, Hypogonadism, Hypsarrhythmia, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Lack of skin elasticity, Large hands, Lissencephaly, Macrogyria, Macrotia, Megaloblastic anemia, Microcephaly, Micrognathia, Micromelia, Microphthalmia, Muscle cramps, Muscular dystrophy, Nystagmus, Opisthotonus, Pachygyria, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Polymicrogyria, Proptosis, Pterygium, Pulmonary hypoplasia, Radial deviation of finger, Renal agenesis, Rocker bottom foot, Seizures, Short neck, Short umbilical cord, Skeletal muscle atrophy, Sloping forehead, Small placenta, Spastic tetraplegia, Spina bifida, Stillbirth, Thick lower lip vermilion, Thick vermilion border, Thrombocytopenia, Toe syndactyly, Transposition of the great arteries, Trismus, Ventricular septal defect, Yellow subcutaneous tissue covered by thin, scaly skin
RG-div1	FAM64A	1.839136273	0			
RG-div1	MASTL	1.838426821	0	Unclassified	BrainSpLMD|84930;Eurexp|euxassay_000091|liver, otic capsule, thymus primordium, tooth	OMIM|608221;HPO|84930|Autosomal dominant inheritance, Bruising susceptibility, Thrombocytopenia
RG-div1	BIRC5	1.823275013	0	Adapter molecule	BrainSpLMD|332	OMIM|603352
RG-div1	E2F7	1.81219725	0	Transcription factor	BrainSpLMD|144455;Eurexp|euxassay_011832|cortex, ventricular layer;BrainSpMouseDev|32159	OMIM|612046
RG-div1	FAM111A	1.808995734	0	Unclassified	BrainSpLMD|63901;Eurexp|euxassay_011616|lobe, mandible, maxilla, orbito-sphenoid, thymus primordium, thyroid, ventricular layer	OMIM|615292;HPO|63901|Abnormality of the medullary cavity of the long bones, Anemia, Aniridia, Ankyloglossia, Ascites, Autosomal dominant inheritance, Basal ganglia calcification, Brachydactyly, Congenital cataract, Delayed closure of the anterior fontanelle, Failure to thrive, Flared metaphysis, Global developmental delay, Hydrocephalus, Hypermetropia, Hypocalcemia, Hypoparathyroidism, Hypoplastic spleen, Increased bone mineral density, Macrocephaly, Micropenis, Microphthalmia, Papilledema, Prominent forehead, Retinal calcification, Seizures, Severe short stature, Short stature, Slender long bone, Small for gestational age, Thickened cortex of long bones, Transient hypophosphatemia
RG-div1	CENPK	1.799676245	0	Unclassified	BrainSpLMD|64105	OMIM|611502
RG-div1	SPC24	1.79837454	0	Cell cycle control protein	BrainSpLMD|147841;Eurexp|euxassay_006353|ventricular layer	OMIM|609394
RG-div1	NEK2	1.796390124	0	Serine/threonine kinase	BrainSpLMD|4751	OMIM|604043;HPO|4751|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
RG-div1	ZNF367	1.79295894	0	DNA binding protein	BrainSpLMD|195828	OMIM|610160
RG-div1	FOXM1	1.790904889	0	Transcription factor	BrainSpLMD|2305;BrainSpMouseDev|14012	OMIM|602341
RG-div1	ANLN	1.780403122	0	Structural protein	BrainSpLMD|54443;Eurexp|euxassay_004352|ventricular layer	OMIM|616027;HPO|54443|Autosomal dominant inheritance, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease
RG-div1	CASC5	1.780258517	0			
RG-div1	GLI3	1.777888948	0	Transcription factor	BrainSpLMD|2737;Eurexp|euxassay_018378|axial skeleton, mesenchyme, phalanx, ventricular layer;BrainSpMouseDev|14410	OMIM|165240;HPO|2737|1-5 toe syndactyly, 3-4 finger syndactyly, Abnormal lung lobation, Abnormality of earlobe, Accelerated skeletal maturation, Anal atresia, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Bifid epiglottis, Broad hallux phalanx, Broad thumb, Cryptorchidism, Dandy-Walker malformation, Decreased circulating cortisol level, Decreased testicular size, Distal shortening of limbs, Distal urethral duplication, Dysplastic distal thumb phalanges with a central hole, Ectopic kidney, Esophageal atresia, Finger syndactyly, Frontal bossing, Growth hormone deficiency, High forehead, Hip dislocation, Holoprosencephaly, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplasia of the epiglottis, Intellectual disability, severe, Intrauterine growth retardation, Laryngeal cleft, Macrocephaly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Micropenis, Nail dysplasia, Neonatal death, Panhypopituitarism, Postaxial foot polydactyly, Postaxial hand polydactyly, Preaxial foot polydactyly, Preaxial polydactyly, Precocious puberty, Preductal coarctation of the aorta, Prominent occiput, Radial head subluxation, Renal cyst, Renal dysplasia, Renal hypoplasia, Scaphocephaly, Seizures, Short nose, Short stature, Sloping forehead, Telecanthus, Thyroid dysgenesis, Toe syndactyly, Tracheoesophageal fistula, Trigonocephaly, Triphalangeal thumb, Variable expressivity, Ventricular septal defect, Wide nasal bridge
RG-div1	CIT	1.775822809	0	Serine/threonine kinase	BrainSpLMD|11113;Eurexp|euxassay_014352|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, cervical region, clavicle, femur, fibula, humerus, hyoid bone, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, thyroid, tibia, turbinate bones, vault of skull;BrainSpMouseDev|12488	OMIM|605629;HPO|11113|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Bulbous nose, Cerebellar hypoplasia, Congenital onset, Cortical gyral simplification, Failure to thrive, Global developmental delay, Heterotopia, Hyperreflexia, Hypertelorism, Hypoplasia of the brainstem, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Macrotia, Microcephaly, Pachygyria, Renal agenesis, Short stature, Sloping forehead, Spasticity, Thick vermilion border, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vesicoureteral reflux
RG-div1	NCAPD2	1.773614894	0	DNA binding protein	BrainSpLMD|9918;Eurexp|euxassay_005651|embryo	OMIM|615638
RG-div1	DDIAS	1.77352398	0	Unclassified	BrainSpLMD|220042	
RG-div1	RTKN2	1.772447145	0	Unclassified	BrainSpLMD|219790	
RG-div1	ZNF850	1.767577261	0			
RG-div1	ZWINT	1.766826863	0	Cell cycle control protein	BrainSpLMD|11130;Eurexp|euxassay_009942|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, valve, vestibulocochlear VIII	OMIM|609177
RG-div1	TNFRSF19	1.764821852	0	Cell surface receptor	BrainSpLMD|55504;Eurexp|euxassay_000124|associated mesenchyme, cartilage condensation, cerebral cortex, epithelium, facial bones primordia, frontal bone primordium, heart, incisor, lung, main bronchus, mandible, maxilla, mesenchyme, optic foramen, palatal shelf, perioptic mesenchyme, premaxilla, primary palate, skeletal muscle, skeleton, spleen primordium, submandibular gland primordium, vibrissa	OMIM|606122
RG-div1	HES1	1.75311304	0	Transcription factor	BrainSpLMD|3280;Eurexp|euxassay_019489|epithelium, floor plate, floorplate, hindgut, incisor, larynx, lung, metanephros, metatarsus, midgut, molar, neural retina, oesophagus, olfactory, oral epithelium, pancreas, phalanx, pharyngo-tympanic tube, skeleton, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|14981	OMIM|139605
RG-div1	CDCA8	1.747791059	0	Cell cycle control protein	BrainSpLMD|55143	OMIM|609977
RG-div1	CENPM	1.747754644	0	Unclassified	BrainSpLMD|79019	OMIM|610152
RG-div1	PTTG1	1.735996253	0	Transcription regulatory protein	BrainSpLMD|9232	OMIM|604147
RG-div1	TK1	1.733400894	0	Enzyme: Phosphotransferase	BrainSpLMD|7083;Eurexp|euxassay_001974|thymus primordium	OMIM|188300
RG-div1	CHEK2	1.722608186	0	Serine/threonine kinase	BrainSpLMD|11200;Eurexp|euxassay_012795|liver, ventricular layer	OMIM|604373;COSMIC||breast;HPO|11200|Abnormal lactate dehydrogenase activity, Abnormality of metabolism/homeostasis, Abnormality of the fallopian tube, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphysis, Autosomal dominant inheritance, Breast carcinoma, Elevated alkaline phosphatase, Glioma, Joint swelling, Lymphoma, Meningioma, Neoplasm of the adrenal cortex, Neoplasm of the colon, Neoplasm of the nervous system, Neoplasm of the pancreas, Neoplasm of the skin, Osteolysis, Osteosarcoma, Ovarian neoplasm, Pain, Primary peritoneal carcinoma, Progressive encephalopathy, Retinoblastoma, Sarcoma, Stomach cancer
RG-div1	WDR62	1.72172103	0	Unclassified	BrainSpLMD|284403	OMIM|613583;HPO|284403|Abnormal cortical bone morphology, Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Congenital onset, Cortical gyral simplification, Decreased fetal movement, Delayed speech and language development, Global developmental delay, Hemiparesis, Heterotopia, Hyperactivity, Hyperreflexia, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Impulsivity, Intellectual disability, Intellectual disability, severe, Lissencephaly, Microcephaly, Pachygyria, Polymicrogyria, Schizencephaly, Seizures, Short stature, Sloping forehead, Spastic tetraparesis, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
RG-div1	NCAPG2	1.717558474	0	Unclassified	BrainSpLMD|54892;Eurexp|euxassay_002384|axial muscle, epithelium, lobe, olfactory, ventricular layer	OMIM|608532
RG-div1	SMC4	1.714685909	0	Structural protein	BrainSpLMD|10051;Eurexp|euxassay_017379|incisor, liver, lung, metanephros, molar, neural retina, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|605575
RG-div1	TFAP2C	1.713533485	0	Transcription factor	BrainSpLMD|7022;BrainSpMouseDev|21181	OMIM|601602
RG-div1	CDCA4	1.709919036	0	Unclassified	BrainSpLMD|55038	OMIM|612270
RG-div1	BRIP1	1.708961545	0	DNA helicase	BrainSpLMD|83990;Eurexp|euxassay_013686|cochlea, marginal layer, ventricular layer	OMIM|605882;COSMIC||AML, leukaemia, breast;HPO|83990|Abnormality of chromosome stability, Abnormality of the fallopian tube, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone marrow hypocellularity, Breast carcinoma, Chromosomal breakage induced by crosslinking agents, Esophageal atresia, Global developmental delay, Heterogeneous, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Ovarian neoplasm, Postnatal growth retardation, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
RG-div1	SPAG5	1.705892431	0	Cytoskeletal associated protein	BrainSpLMD|10615	OMIM|615562
RG-div1	STOX1	1.704649632	0	DNA binding protein	BrainSpLMD|219736	OMIM|609397;HPO|219736|Eclampsia, Polygenic inheritance, Preeclampsia
RG-div1	RP11.76I14.1	1.703134085	0			
RG-div1	KPNA2	1.70191959	0	Transport/cargo protein	BrainSpLMD|3838	OMIM|600685
RG-div1	DLGAP5	1.695069825	0	Cell cycle control protein	BrainSpLMD|9787	
RG-div1	RP11.222A11.1	1.693462526	0			
RG-div1	KIAA0101	1.693322358	0			
RG-div1	UBE2C	1.691256415	0	Ubiquitin proteasome system protein	BrainSpLMD|11065	OMIM|605574
RG-div1	FBXO32	1.691221543	0	Ubiquitin proteasome system protein	BrainSpLMD|114907;Eurexp|euxassay_009279|atrium, cochlea, cochlear duct, intermediate grey horn, lip, mesenchyme, oesophagus, olfactory, sublingual gland primordium, ventricular layer, vomeronasal organ	OMIM|606604
RG-div1	CREB5	1.69111359	0	Transcription factor	BrainSpLMD|9586;Eurexp|euxassay_016386|axial skeleton, oral epithelium	
RG-div1	C8orf4	1.689641422	0			
RG-div1	CDC20	1.688291004	0	Cell cycle control protein	BrainSpLMD|991;Eurexp|euxassay_005724|hypothalamus, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|603618
RG-div1	HIST1H4C	1.679552208	0	DNA binding protein	BrainSpLMD|8364	OMIM|602827
RG-div1	KIF14	1.679525586	0	Motor protein	BrainSpLMD|9928	OMIM|611279;HPO|9928|Agenesis of corpus callosum, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral hypoplasia, Intrauterine growth retardation, Microcephaly, Oligohydramnios, Renal agenesis, Renal hypoplasia, Rocker bottom foot, Sloping forehead
RG-div1	BRCA1	1.678112754	0	Transcription regulatory protein	BrainSpLMD|672;Eurexp|euxassay_019531|incisor, liver, lung, marginal layer, metanephros, molar, olfactory, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|11975	OMIM|113705;COSMIC||ovarian, breast, ovarian;HPO|672|Abdominal distention, Abdominal pain, Abnormality of the fallopian tube, Autosomal dominant inheritance, Breast carcinoma, Constipation, Heterogeneous, Nausea and vomiting, Neoplasm, Ovarian neoplasm, Peritonitis, Primary peritoneal carcinoma
RG-div1	PSAT1	1.673841429	0	Enzyme: Aminotransferase	BrainSpLMD|29968;Eurexp|euxassay_001596|cranium, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|610936;HPO|29968|Abnormality of the philtrum, Abnormality of the pinna, Absent septum pellucidum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Broad foot, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cleft palate, Congenital onset, Dandy-Walker malformation, Decreased fetal movement, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Feeding difficulties in infancy, Global developmental delay, High palate, Hypertelorism, Hypertonia, Hypoglycinemia, Hypogonadism, Hyposerinemia, Ichthyosis, Infantile onset, Intrauterine growth retardation, Lack of skin elasticity, Large hands, Lissencephaly, Low-set ears, Macrogyria, Macrotia, Microcephaly, Micrognathia, Muscle cramps, Muscular dystrophy, Opisthotonus, Pachygyria, Polyhydramnios, Polymicrogyria, Postnatal microcephaly, Proptosis, Rocker bottom foot, Scoliosis, Seizures, Short neck, Skeletal muscle atrophy, Sloping forehead, Thick vermilion border, Trismus
RG-div1	WEE1	1.66189437	0	Dual specificity kinase	BrainSpLMD|7465;Eurexp|euxassay_016462|hindgut, lung, midgut, stomach, submandibular gland primordium, ventricular layer	OMIM|193525
RG-div1	KIF22	1.656418665	0	DNA binding protein	BrainSpLMD|3835	OMIM|603213;HPO|3835|Abnormal calcification of the carpal bones, Abnormality of the patella, Abnormality of the sacrum, Anteverted nares, Autosomal dominant inheritance, Broad distal phalanx of finger, Carpal bone hypoplasia, Caudal interpedicular narrowing, Congenital hip dislocation, Delayed patellar ossification, Delayed phalangeal epiphyseal ossification, Depressed nasal bridge, Dislocated radial head, Enlarged thorax, Flared metaphysis, Flat capital femoral epiphysis, Frontal bossing, Generalized hypotonia, Genu valgum, Global developmental delay, Hip dislocation, Hypoplasia of the capital femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Joint laxity, Kyphosis, Large joint dislocations, Laryngeal stenosis, Laryngotracheomalacia, Long distal phalanx of finger, Long proximal phalanx of finger, Macrocephaly, Malar flattening, Metaphyseal irregularity, Micromelia, Midface retrusion, Nail dysplasia, Narrow femoral neck, Osteoarthritis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Short nose, Short stature, Skeletal dysplasia, Slender distal phalanx of finger, Slender metacarpals, Slender proximal phalanx of finger, Small epiphyses, Soft skin, Spinal dysraphism, Spondyloepimetaphyseal dysplasia, Streaky metaphyseal sclerosis, Wide nose
RG-div1	LINC00263	1.652780183	0			
RG-div1	FILIP1	1.649620702	0	Unclassified	BrainSpLMD|27145;Eurexp|euxassay_011444|adrenal gland, wall	OMIM|607307
RG-div1	ORC6	1.644119911	0	DNA binding protein	BrainSpLMD|23594;Eurexp|euxassay_007673|cortex, incisor, left, mandible, molar, right, submandibular gland primordium, ventricular layer	OMIM|607213;HPO|23594|Abnormality of epiphysis morphology, Abnormality of the ribs, Absent sternal ossification, Anotia, Aplasia/Hypoplasia of the patella, Aplastic clavicles, Atresia of the external auditory canal, Autosomal recessive inheritance, Birth length less than 3rd percentile, Breast hypoplasia, Bronchomalacia, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Coxa vara, Craniosynostosis, Cryptorchidism, Delayed skeletal maturation, Downslanted palpebral fissures, Dyspnea, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Genu varum, High, narrow palate, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypospadias, Intrauterine growth retardation, Joint hyperflexibility, Laryngomalacia, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Micropenis, Microretrognathia, Microtia, Microtia, third degree, Narrow chest, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Prominent nasal bridge, Recurrent pneumonia, Respiratory distress, Respiratory failure, Retrognathia, Scrotal hypoplasia, Severe short stature, Short ribs, Short thorax, Slender long bone, Talipes equinovarus, Thick lower lip vermilion, Tracheomalacia, Triangular face
RG-div1	TICRR	1.643518203	0	Unclassified	BrainSpLMD|90381	OMIM|613298
RG-div1	CKS1B	1.643454199	0	Cell cycle control protein		OMIM|116900
RG-div1	ST5	1.642485423	0	Unclassified	BrainSpLMD|6764	OMIM|140750
RG-div1	MCM2	1.640879182	0	DNA binding protein	BrainSpLMD|4171;Eurexp|euxassay_009158|brain, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nerve, sensory organ, spinal cord, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|116945;HPO|4171|Autosomal dominant inheritance, Progressive sensorineural hearing impairment, Slow progression, Variable expressivity
RG-div1	BLM	1.636200643	0	DNA binding protein	BrainSpLMD|641	OMIM|604610;COSMIC||leukaemia, lymphoma, skin squamous cell, other tumour types;HPO|641|Abnormality of chromosome stability, Agenesis of maxillary lateral incisor, Autosomal recessive inheritance, Azoospermia, Bronchiectasis, Cafe-au-lait spot, Chromosome breakage, Chronic lung disease, Clinodactyly of the 5th finger, Cryptorchidism, Cutaneous photosensitivity, Decreased fertility in females, Delayed skeletal maturation, Diarrhea, Dolichocephaly, Erythema, Facial telangiectasia in butterfly midface distribution, Hand polydactyly, High pitched voice, Hypertrichosis, Hypoplasia of the zygomatic bone, IgA deficiency, IgG deficiency, IgM deficiency, Intrauterine growth retardation, Leukemia, Lymphoma, Malar flattening, Microcephaly, Narrow face, Postnatal growth retardation, Prominent nose, Protruding ear, Recurrent respiratory infections, Short nose, Short stature, Sinusitis, Specific learning disability, Spotty hyperpigmentation, Spotty hypopigmentation, Squamous cell carcinoma, Syndactyly, Type II diabetes mellitus
RG-div1	INCENP	1.633919009	0	Cell cycle control protein	BrainSpLMD|3619;Eurexp|euxassay_004695|ventricular layer	OMIM|604411
RG-div1	FAM111B	1.631105919	0	Unclassified	BrainSpLMD|374393	OMIM|615584;HPO|374393|Alopecia, Autosomal dominant inheritance, Elevated serum creatine phosphokinase, Hepatomegaly, Hypohidrosis, Poikiloderma, Skeletal muscle atrophy
RG-div1	HIST1H1A	1.62920053	0	DNA binding protein	BrainSpLMD|3024	OMIM|142709
RG-div1	CENPQ	1.627986503	0	Unclassified	BrainSpLMD|55166	OMIM|611506
RG-div1	KIFC1	1.625236753	0	Motor protein	Eurexp|euxassay_010691|marginal layer, ventricular layer	OMIM|603763
RG-div1	CDC45	1.625117792	0	Cell cycle control protein	BrainSpLMD|8318;Eurexp|euxassay_006791|choroid plexus, marginal layer, ventricular layer	OMIM|603465;HPO|8318|2-3 toe syndactyly, Abnormality of epiphysis morphology, Abnormality of the ribs, Anal atresia, Anal stenosis, Anotia, Aplasia/Hypoplasia of the patella, Aplastic clavicles, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Atrial septal defect, Autosomal recessive inheritance, Bowing of the legs, Camptodactyly of finger, Choanal atresia, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Clubbing, Complete atrioventricular canal defect, Craniosynostosis, Cryptorchidism, Decreased body weight, Delayed skeletal maturation, Duodenal stenosis, Failure to thrive, Feeding difficulties, Global developmental delay, Hearing impairment, High palate, High, narrow palate, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypospadias, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Micropenis, Microtia, Microtia, third degree, Myopia, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Preaxial polydactyly, Progressive microcephaly, Proptosis, Pulmonary hypoplasia, Respiratory distress, Respiratory failure, Retrognathia, Sagittal craniosynostosis, Scoliosis, Severe short stature, Short stature, Slender long bone, Strabismus, Thin eyebrow, Urethral stricture, Ventricular septal defect, Vesicoureteral reflux, Wide anterior fontanel
RG-div1	PPARGC1A	1.625075547	0	Transcription regulatory protein	BrainSpLMD|10891;Eurexp|euxassay_006699|anterior, calyces, dorsal root ganglion, external, facial VII, fundus region, incisor, left ventricle, mantle layer, mesenchyme, oral epithelium, posterior, right ventricle, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|18780	OMIM|604517;HPO|10891|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
RG-div1	HSDL2	1.616885887	0	Unclassified	BrainSpLMD|84263	
RG-div1	PDLIM3	1.601303777	0	Unclassified	BrainSpLMD|27295	OMIM|605889
RG-div1	PARD3B	1.597575323	0	Unclassified	BrainSpLMD|117583;Eurexp|euxassay_009412|olfactory, ventricular layer, vomeronasal organ	SFARI||Autism, 3 - Suggestive evidence
RG-div1	MYBL2	1.59181515	0	Transcription factor	BrainSpLMD|4605;Eurexp|euxassay_002836|incisor, integumental system, lobe, marginal layer, skeleton, thymus primordium, ventricular layer, vibrissa;BrainSpMouseDev|17632	OMIM|601415
RG-div1	CCNF	1.58727199	0	Cell cycle control protein	BrainSpLMD|899;Eurexp|euxassay_002325|lobe, ventricular layer	OMIM|600227;HPO|899|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
RG-div1	CCDC18	1.586694894	0	T cell antigen receptor	BrainSpLMD|343099	
RG-div1	LTBP1	1.586615306	0	Extracellular matrix protein	BrainSpLMD|4052	OMIM|150390
RG-div1	EXO1	1.58320295	0	DNA exonuclease	BrainSpLMD|9156;Eurexp|euxassay_008408|anterior, bladder, cornea, epithelium, external, footplate, handplate, incisor, left lung, liver, mantle layer, marginal layer, metanephros, midgut, molar, nasal septum, naso-lacrimal duct, olfactory, pancreas, rest of mesenchyme, retina, right lung, skeletal muscle, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|606063
RG-div1	DDAH1	1.583147166	0	Enzyme: Hydrolase	BrainSpLMD|23576;Eurexp|euxassay_003952|mantle layer, ventral grey horn, ventricular layer	OMIM|604743
RG-div1	HMMR	1.57214052	0	Cell surface receptor	BrainSpLMD|3161	OMIM|600936
RG-div1	ARHGAP11A	1.570667573	0	GTPase activating protein	BrainSpLMD|9824;Eurexp|euxassay_018145|excretory component, hindgut, incisor, mantle layer, marginal layer, meninges, midgut, molar, neural retina, olfactory, stomach, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|610589
RG-div1	MIS18BP1	1.569013166	0	Transcription regulatory protein	BrainSpLMD|55320;Eurexp|euxassay_004198|ventricular layer	
RG-div1	CENPO	1.564305024	0	Unclassified	BrainSpLMD|79172;Eurexp|euxassay_000072|Meckel's cartilage, basal plate, chondrocranium, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, molar, olfactory, submandibular gland primordium, testis, thymus primordium, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|611504
RG-div1	MCM10	1.563862593	0	DNA binding protein	BrainSpLMD|55388	OMIM|609357
RG-div1	MEGF10	1.563785615	0	Structural protein	BrainSpLMD|84466	SFARI||Autism, 4 - Minimal evidence;OMIM|612453;HPO|84466|Areflexia, Autosomal recessive inheritance, Camptodactyly of finger, Cleft palate, Congenital onset, Decreased fetal movement, Diaphragmatic paralysis, Difficulty running, Dysphagia, Facial palsy, Failure to thrive, High palate, Hyporeflexia, Motor delay, Nasal speech, Neonatal hypotonia, Pectus excavatum, Poor head control, Respiratory distress, Respiratory failure, Restrictive ventilatory defect, Scoliosis, Talipes equinovarus, Variable expressivity
RG-div1	FEN1	1.560817019	0	Deoxyribonuclease	BrainSpLMD|2237	OMIM|600393;COSMIC||breast cancer
RG-div1	PAX6	1.559286763	0	Transcription factor	BrainSpLMD|5080;BrainSpMouseDev|18274	SFARI||Autism, No category;OMIM|607108;HPO|5080|Abnormal best corrected visual acuity test, Abnormality of movement, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the vagina, Abnormality of vision, Amblyopia, Aniridia, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the macula, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Cerebellar hypoplasia, Chorioretinal coloboma, Congenital glaucoma, Congenital nystagmus, Contiguous gene syndrome, Corneal opacity, Cryptorchidism, Displacement of the external urethral meatus, EEG abnormality, Everted lower lip vermilion, Generalized hyperpigmentation, Glaucoma, Global developmental delay, Hearing abnormality, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Hypoplasia of the iris, Hypospadias, Intellectual disability, Keratitis, Mask-like facies, Microcephaly, Micrognathia, Motor delay, Muscular hypotonia, Nephroblastoma, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Optic disc hypoplasia, Optic nerve aplasia, Optic nerve coloboma, Optic nerve hypoplasia, Peripheral vitreous opacities, Peters anomaly, Postural tremor, Presenile cataracts, Pseudopapilledema, Ptosis, Reduced visual acuity, Retinal detachment, Scanning speech, Short stature, Slurred speech, Somatic mutation, Strabismus, Streak ovary, Visual impairment, Visual loss
RG-div1	TUBB4B	1.558869604	0	Structural protein	BrainSpLMD|10383	OMIM|602660
RG-div1	SLC1A3	1.555712996	0	Transport/cargo protein	BrainSpLMD|6507;Eurexp|euxassay_001899|mantle layer, thymus primordium, tongue, ventral grey horn, ventricular layer;BrainSpMouseDev|20274	OMIM|600111;HPO|6507|Autosomal dominant inheritance, Cerebellar hypoplasia, Diplopia, Dysarthria, Episodic ataxia, Generalized hypotonia, Hemiparesis, Hemiplegia, Migraine, Motor delay, Nausea, Phonophobia, Photophobia, Seizures, Slurred speech, Truncal ataxia, Vertigo, Vomiting
RG-div1	GINS4	1.55480806	0	Unclassified	BrainSpLMD|84296;Eurexp|euxassay_003568|submandibular gland primordium, ventricular layer, vibrissa	OMIM|610611
RG-div1	SHROOM3	1.552906863	0	Adapter molecule	BrainSpLMD|57619;Eurexp|euxassay_012216|cortex, midgut, olfactory, ventricular layer, vertebral axis muscle system	OMIM|604570
RG-div1	RAD51AP1	1.552221714	0	DNA binding protein	BrainSpLMD|10635;Eurexp|euxassay_010685|ventricular layer	OMIM|603070
RG-div1	H2AFX	1.548703677	0	DNA binding protein	BrainSpLMD|3014;Eurexp|euxassay_002718|ventricular layer	OMIM|601772
RG-div1	CCNA2	1.544182214	0	Cell cycle control protein	BrainSpLMD|890	OMIM|123835
RG-div1	AJUBA	1.541771997	0	Cell cycle control protein	BrainSpLMD|84962	OMIM|609066
RG-div1	CEP135	1.538931534	0	Unclassified	BrainSpLMD|9662	SFARI||Autism, 3 - Suggestive evidence;OMIM|611423;HPO|9662|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Congenital onset, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, severe, Microcephaly, Pachygyria, Retrognathia, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
RG-div1	RACGAP1	1.534496549	0	GTPase activating protein	BrainSpLMD|29127;Eurexp|euxassay_005572|dorsal grey horn, ventricular layer	OMIM|604980
RG-div1	TUBB6	1.532017246	0	Cytoskeletal protein	BrainSpLMD|84617;Eurexp|euxassay_015347|cervical, cervico-thoracic, cochlear component, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, inferior, medulla oblongata, metencephalon, midbrain, neural retina, nucleus pulposus, olfactory, spinal cord, stroma, superior, telencephalon, thoracic, tongue, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII	OMIM|615103
RG-div1	PGM2	1.531791335	0	Enzyme: Phosphotransferase	BrainSpLMD|55276	OMIM|172000
RG-div1	CKAP2	1.529474487	0	Cytoskeletal associated protein	BrainSpLMD|26586;Eurexp|euxassay_001740|thymus primordium, ventricular layer	OMIM|611569
RG-div1	S1PR1	1.527437221	0	G protein coupled receptor	BrainSpLMD|1901;BrainSpMouseDev|13387	OMIM|601974
RG-div1	LRP4	1.527290816	0	Cell surface receptor	Eurexp|euxassay_011129|alar columns, epithelium, glomeruli, incisor, mantle layer, molar, olfactory, ventricular layer, vibrissa	OMIM|604270;HPO|4038|2-3 finger syndactyly, Abnormal cortical bone morphology, Abnormality of the nose, Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital onset, Craniofacial hyperostosis, Curved distal phalanges of the hand, Cutaneous finger syndactyly, Diaphyseal thickening, Difficulty walking, Downslanted palpebral fissures, Facial palsy, Feeding difficulties, Fingernail dysplasia, Frontal bossing, Hearing impairment, Hypertelorism, Hypoplasia of the radius, Hypoplasia of the ulna, Hyporeflexia, Increased bone mineral density, Macrocephaly, Mandibular prognathia, Micrognathia, Nail dysplasia, Prominent forehead, Ptosis, Renal agenesis, Renal hypoplasia, Sensorineural hearing impairment, Short finger, Syndactyly, Tall stature
RG-div1	UBE2T	1.52506508	0	Ubiquitin proteasome system protein	BrainSpLMD|29089;Eurexp|euxassay_004872|olfactory, respiratory, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|610538;HPO|29089|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bone marrow hypocellularity, Duplication of thumb phalanx, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pancytopenia, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Thrombocytopenia
RG-div1	ITGB8	1.516391274	0	Cell surface receptor	BrainSpLMD|3696;Eurexp|euxassay_011385|axial skeleton, brachial plexus, nasal cavity, optic chiasma, optic nerve, phalanx, submandibular gland primordium, testis, valve, ventricular layer, vibrissa;BrainSpMouseDev|107845	OMIM|604160
RG-div1	PREX2	1.515828824	0	Guanine nucleotide exchange factor	BrainSpLMD|80243	OMIM|612139;COSMIC||melanoma, pancreatic ductal adenocarcinoma
RG-div1	ANKRD20A4	1.514567854	0	Unclassified		
RG-div1	CEP152	1.513433266	0	Unclassified	Eurexp|euxassay_011313|axial skeleton, basioccipital bone, choroid invagination, choroid plexus, epithelium, femur, humerus, inner ear, olfactory, pelvic girdle, pituitary, roof plate, scapula, vomeronasal organ	OMIM|613529;HPO|22995|Abnormal cortical bone morphology, Abnormal cortical gyration, Abnormality of dental enamel, Absent earlobe, Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Bimanual synkinesia, Cachexia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Heterotopia, High palate, Hip dysplasia, Hyperreflexia, Hypodontia, Hypoplasia of the frontal lobes, Impulsivity, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint hyperflexibility, Large beaked nose, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Oligodontia, Pachygyria, Prematurely aged appearance, Prominent nasal bridge, Reduced number of teeth, Retrognathia, Sandal gap, Short stature, Sloping forehead, Sparse scalp hair, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
RG-div1	SALL3	1.510546013	0	DNA binding protein	BrainSpLMD|27164;Eurexp|euxassay_010911|cochlea, glomeruli, inner ear, lip, mantle layer, medulla oblongata, palatal shelf, penis, utricle, valve, ventricular layer;BrainSpMouseDev|20451	OMIM|605079
RG-div1	ATAD2	1.506312801	0	ATPase	BrainSpLMD|29028;Eurexp|euxassay_012771|ventricular layer	OMIM|611941
RG-div1	HMGB2	1.505946179	0	Transcription regulatory protein	BrainSpLMD|3148;Eurexp|euxassay_019251|incisor, lobe, lung, marginal layer, metanephros, molar, neural retina, oesophagus, pancreas, pituitary, submandibular gland primordium, thymus primordium, thyroid, trachea, turbinate bones, valve, ventricle, ventricular layer, vertebral axis muscle system	OMIM|163906
RG-div1	CTD.2282P23.2	1.49872752	0			
RG-div1	CENPL	1.498518714	0	Unclassified	BrainSpLMD|91687	OMIM|611503
RG-div1	CRYZ	1.497639523	0	Enzyme: Oxidoreductase	BrainSpLMD|1429	OMIM|123691
RG-div1	LRR1	1.494869056	0	Unclassified	BrainSpLMD|122769	OMIM|609193
RG-div1	FBXO5	1.493898693	0	Cell cycle control protein	BrainSpLMD|26271;Eurexp|euxassay_012335|marginal layer, ventricular layer	OMIM|606013
RG-div1	KIAA1524	1.491907314	0			
RG-div1	MCAM	1.488307791	0	Adhesion molecule	BrainSpLMD|4162	OMIM|155735
RG-div1	LIG1	1.486409266	0	DNA ligase	BrainSpLMD|3978;Eurexp|euxassay_018504|marginal layer, thymus primordium, ventricular layer	OMIM|126391
RG-div1	MID1	1.483808484	0	Transcription regulatory protein;Ubiquitin proteasome system protein	BrainSpLMD|4281;Eurexp|euxassay_013835|excretory component, marginal layer, neural retina, ventricular layer;BrainSpMouseDev|17087	OMIM|300552;HPO|4281|Abnormal heart morphology, Abnormality of the nasopharynx, Agenesis of corpus callosum, Anal atresia, Anteverted nares, Aspiration, Cleft palate, Cleft upper lip, Cryptorchidism, Dysphagia, Esophageal atresia, Frontal bossing, Gastroesophageal reflux, Global developmental delay, Heterogeneous, High palate, Hypertelorism, Hypospadias, Posterior pharyngeal cleft, Prominent forehead, Smooth philtrum, Telecanthus, Thin upper lip vermilion, Tracheoesophageal fistula, Wide nasal bridge, Widow's peak, X-linked recessive inheritance
RG-div1	IL33	1.4832486	0	Unclassified	Eurexp|euxassay_011591|capsule, cortex, endolymphatic duct, lip, mesentery, midgut, olfactory, skeletal muscle, utricle	OMIM|608678
RG-div1	DTL	1.482620753	0	Unclassified	BrainSpLMD|51514;Eurexp|euxassay_012578|choroid plexus, ventricular layer	OMIM|610617
RG-div1	TMEM132B	1.480163301	0	Integral membrane protein		
RG-div1	CYR61	1.472302193	0	Extracellular matrix protein	BrainSpLMD|3491;BrainSpMouseDev|15780	OMIM|602369
RG-div1	VIM	1.472275615	0	Cytoskeletal protein	BrainSpLMD|7431	OMIM|193060;HPO|7431|Autosomal dominant inheritance, Congenital onset, Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract
RG-div1	POLD3	1.471994709	0	DNA polymerase	BrainSpLMD|10714;Eurexp|euxassay_007336|embryo	OMIM|611415
RG-div1	KNTC1	1.470519366	0	Cell cycle control protein	BrainSpLMD|9735;Eurexp|euxassay_011295|ventricular layer	OMIM|607363
RG-div1	DNMBP	1.466287665	0	Guanine nucleotide exchange factor	BrainSpLMD|23268;Eurexp|euxassay_016234|lens	OMIM|611282
RG-div1	KIAA1217	1.466193524	0	Unclassified	BrainSpLMD|56243;Eurexp|euxassay_002039|ventricular layer	OMIM|617367
RG-div1	FANCI	1.465915636	0	Unclassified	BrainSpLMD|55215	OMIM|611360;HPO|55215|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
RG-div1	CDC25B	1.463569311	0	Dual specificity phosphatase	BrainSpLMD|994	OMIM|116949
RG-div1	ZIC5	1.463034583	0	DNA binding protein	BrainSpLMD|85416;BrainSpMouseDev|41618	
RG-div1	TTF2	1.462330289	0	Transcription regulatory protein	BrainSpLMD|8458;Eurexp|euxassay_012438|ventricular layer;BrainSpMouseDev|49885	OMIM|604718
RG-div1	COL4A5	1.456324126	0	Extracellular matrix protein	BrainSpLMD|1287;Eurexp|euxassay_015894|bladder, ductus deferens, floorplate, lens, lung, meninges, stomach, sublingual gland primordium, submandibular gland primordium, thyroid, umbilical artery, umbilical vein, urethra, ventricular layer;BrainSpMouseDev|12613	OMIM|303630;HPO|1287|Anterior lenticonus, Congenital cataract, Corneal erosion, Diffuse glomerular basement membrane lamellation, Diffuse leiomyomatosis, Heterogeneous, Hypertension, Hypoparathyroidism, Ichthyosis, Microscopic hematuria, Myopia, Nephritis, Nephrotic syndrome, Progressive, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidney disease, Thickening of the glomerular basement membrane, Thrombocytopenia, X-linked dominant inheritance
RG-div1	KNSTRN	1.455791751	0	Unclassified		OMIM|614718;COSMIC||SCC
RG-div1	TYMS	1.452930549	0	Enzyme: Ligase	BrainSpLMD|7298;Eurexp|euxassay_008886|cardiovascular system, cavities and their linings, gland, integumental system, limb, marginal layer, mesenchyme, sensory organ, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|188350
RG-div1	CHEK1	1.451283984	0	Serine/threonine kinase	BrainSpLMD|1111	OMIM|603078
RG-div1	CDON	1.45080841	0	Cell surface receptor	BrainSpLMD|50937;BrainSpMouseDev|37081	OMIM|608707;HPO|50937|Agenesis of corpus callosum, Autosomal dominant inheritance, Cleft lip, Cleft palate, Delayed puberty, Ectopic posterior pituitary, Failure to thrive, Global developmental delay, Holoprosencephaly, Hypoglycemia, Hypoplasia of penis, Hypotelorism, Hypothyroidism, Microcephaly, Polysplenia, Proptosis, Short stature, Sporadic, Synophrys, Thick eyebrow, Variable expressivity
RG-div1	SALL1	1.446792845	0	Transcription factor	BrainSpLMD|6299;Eurexp|euxassay_000198|basal columns, corpus striatum, epithelium, floor plate, floorplate, glomeruli, handplate, head mesenchyme, intermediate grey horn, isthmus, lateral wall, mantle layer, marginal layer, medulla oblongata, mesenchyme, olfactory, pars tuberalis, penis, skin, telencephalon, thyroid, ventral grey horn, ventricular layer;BrainSpMouseDev|37230	OMIM|602218;HPO|6299|2-3 toe syndactyly, 3-4 finger syndactyly, 3-4 toe syndactyly, Anal atresia, Anal stenosis, Anteriorly placed anus, Aplasia/Hypoplasia of the 3rd toe, Autosomal dominant inheritance, Bifid scrotum, Bifid uterus, Broad thumb, Chorioretinal coloboma, Clinodactyly of the 5th finger, Constipation, Cryptorchidism, Duodenal atresia, External ear malformation, Gastroesophageal reflux, Hearing impairment, Hypospadias, Hypothyroidism, Intellectual disability, Macrotia, Metatarsal synostosis, Microcephaly, Microtia, Overfolded helix, Overfolding of the superior helices, Partial duplication of thumb phalanx, Pes planus, Preauricular skin tag, Preaxial hand polydactyly, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Rectovaginal fistula, Renal insufficiency, Satyr ear, Short metatarsal, Stahl ear, Subcutaneous nodule, Tetralogy of Fallot, Toe clinodactyly, Triphalangeal thumb, Umbilical hernia, Urethral valve, Ventricular septal defect
RG-div1	DEPDC1B	1.438306674	0	Unclassified	BrainSpLMD|55789	OMIM|616073
RG-div1	CENPU	1.436732307	0	Unclassified	BrainSpLMD|79682	OMIM|611511
RG-div1	C21orf58	1.433842114	0	Unclassified	BrainSpLMD|54058	
RG-div1	FAM84B	1.432004062	0	Unclassified	BrainSpLMD|157638;Eurexp|euxassay_012212|choroid plexus, fundus, marginal layer, metanephros, molar, stomach, submandibular gland primordium, vibrissa	OMIM|609483
RG-div1	AF001548.5	1.426705724	0			
RG-div1	LRRC3B	1.426436299	0	Unclassified	BrainSpLMD|116135	
RG-div1	NDC1	1.420309997	0	Anchor protein	BrainSpLMD|55706	OMIM|610115
RG-div1	BOC	1.419357103	0	Cell surface receptor	BrainSpLMD|91653;Eurexp|euxassay_005272|intermediate grey horn, mantle layer, marginal layer, mesenchyme, trachea, ventricular layer;BrainSpMouseDev|78669	OMIM|608708
RG-div1	GAB1	1.416692713	0	Adapter molecule	BrainSpLMD|2549	OMIM|604439
RG-div1	FAM122B	1.412968804	0	Unclassified	BrainSpLMD|159090;Eurexp|euxassay_002251|axial skeleton, cranium, mesenchyme, pectoral girdle and thoracic body wall, trachea	
RG-div1	ANKRD20A3	1.410181825	0	Unclassified		
RG-div1	MDM1	1.408650859	0	Unclassified	BrainSpLMD|56890	OMIM|613813
RG-div1	BARD1	1.406082381	0	Transcription regulatory protein	BrainSpLMD|580	OMIM|601593;COSMIC||breast cancer, ovarian cancer, breast cancer, endometrioid cancer;HPO|580|Abnormality of the fallopian tube, Breast carcinoma, Ovarian neoplasm, Primary peritoneal carcinoma
RG-div1	HEG1	1.406021313	0	Calcium binding protein	BrainSpLMD|57493;Eurexp|euxassay_005510|ventricular layer	OMIM|614182
RG-div1	STK3	1.404160286	0	Serine/threonine kinase	BrainSpLMD|6788	OMIM|605030
RG-div1	LINC00943	1.402554008	0			
RG-div1	DACH1	1.400808983	0	Transcription regulatory protein	BrainSpLMD|1602;Eurexp|euxassay_012739|associated mesenchyme, bladder, calyces, cortex, dermis, dorsal root ganglion, facial VII, left lung, mantle layer, meninges, midgut, olfactory, oral region, pelvis, penis, retina, right lung, stomach, thymus primordium, trigeminal V, ureter, urethra, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|12914	OMIM|603803
RG-div1	STIL	1.397124408	0	Unclassified	BrainSpLMD|6491	OMIM|181590;COSMIC||T-ALL;HPO|6491|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Congenital onset, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
RG-div1	EGR1	1.39463921	0	Transcription factor	BrainSpLMD|1958;Eurexp|euxassay_008911|mesenchyme;BrainSpMouseDev|13431	OMIM|128990
RG-div1	CDK2	1.393331783	0	Cell cycle control protein	BrainSpLMD|1017	OMIM|116953
RG-div1	ZGRF1	1.384235683	0	Unclassified	BrainSpLMD|55345;Eurexp|euxassay_012482|ventricular layer	
RG-div1	KDELC2	1.383796872	0	Unclassified	BrainSpLMD|143888	
RG-div1	MCM4	1.379361169	0	DNA binding protein	BrainSpLMD|4173	SFARI||Autism, 4 - Minimal evidence;OMIM|602638;HPO|4173|Adrenal insufficiency, Autosomal recessive inheritance, Global developmental delay, Hepatomegaly, Intrauterine growth retardation, Lymphadenopathy, Lymphoproliferative disorder, Microcephaly, Postnatal growth retardation, Recurrent respiratory infections, Recurrent viral infections, Splenomegaly
RG-div1	NFATC4	1.378645832	0	Transcription factor	BrainSpLMD|4776;BrainSpMouseDev|49022	OMIM|602699
RG-div1	HEATR5A	1.377463835	0	Unclassified	BrainSpLMD|25938;Eurexp|euxassay_011074|glossopharyngeal IX, mantle layer, neural retina, trigeminal V, ventricle	
RG-div1	AC004381.6	1.373134891	0			
RG-div1	FBXL7	1.366868151	0	Ubiquitin proteasome system protein	BrainSpLMD|23194	OMIM|605656
RG-div1	NEIL3	1.365412026	0	Enzyme: Glycosylase	BrainSpLMD|55247	OMIM|608934
RG-div1	ABHD3	1.365000471	0	Unclassified	BrainSpLMD|171586;Eurexp|euxassay_005011|choroid plexus, lateral recess, mantle layer, olfactory, urethra	OMIM|612197
RG-div1	HMGA2	1.361316907	0	Transcription factor	BrainSpLMD|8091;Eurexp|euxassay_003865|axial skeleton, cochlea, cortex, fibula, handplate, hindgut, humerus, lung, metanephros, metatarsus, midgut, oesophagus, pancreas, pelvic girdle, phalanx, pituitary, rib, stomach, sublingual gland primordium, thymus primordium, thyroid, tibia, trachea, turbinate bones, ventricular layer;BrainSpMouseDev|15139	OMIM|600698;COSMIC||lipoma, leiomyoma, pleomorphic salivary gland adenoma;HPO|8091|Autosomal dominant inheritance, Delayed speech and language development, Failure to thrive, Global developmental delay, Hyperpigmentation of the skin, Hypertelorism, Intellectual disability, mild, Intrauterine growth retardation, Osteopoikilosis, Short stature, Somatic mutation, Specific learning disability, Subcutaneous nodule, Tremor, Uterine leiomyoma
RG-div1	CENPW	1.360457083	0	Unclassified	Eurexp|euxassay_006383|roof plate, telencephalic part of interventricular foramen, thalamus	OMIM|611264
RG-div1	HIST1H2BL	1.357372818	0	DNA binding protein		OMIM|602800
RG-div1	STK17B	1.354948632	0	Serine/threonine kinase	BrainSpLMD|9262	OMIM|604727
RG-div1	BMPR1B	1.351602342	0	Receptor serine/threonine kinase	BrainSpLMD|658;BrainSpMouseDev|11953	OMIM|603248;HPO|658|2-3 toe syndactyly, Abnormality of epiphysis morphology, Abnormality of the fingernails, Abnormality of the hip bone, Abnormality of the radius, Abnormality of the thumb, Abnormality of the ulna, Abnormality of tibia morphology, Aplasia of the middle phalanges of the toes, Aplasia of the proximal phalanges of the hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the 1st metacarpal, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Aplasia/Hypoplasia of the thumb, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bowing of the long bones, Brachydactyly, Bracket epiphysis of the middle phalanx of the 2nd finger, Bracket epiphysis of the middle phalanx of the 5th finger, Broad foot, Broad hallux, Carpal synostosis, Clinodactyly of the 5th finger, Complete duplication of distal phalanx of the thumb, Cone-shaped epiphysis, Delayed speech and language development, Disproportionate short-limb short stature, Fibular aplasia, Fibular hypoplasia, Hallux valgus, Hypergonadotropic hypogonadism, Hypoplasia of the ulna, Hypoplasia of the uterus, Joint stiffness, Limitation of joint mobility, Medially deviated second toe, Micromelia, Narrow nasal bridge, Poor motor coordination, Postaxial hand polydactyly, Primary amenorrhea, Pseudoepiphyses of the 2nd finger, Radial deviation of finger, Radial deviation of the 2nd finger, Sarcoma, Short 2nd finger, Short distal phalanx of the 2nd finger, Short distal phalanx of the thumb, Short femoral neck, Short finger, Short foot, Short hallux, Short metatarsal, Short middle phalanx of finger, Short middle phalanx of the 5th finger, Short phalanx of finger, Short proximal phalanx of finger, Short proximal phalanx of thumb, Short stature, Short thumb, Short tibia, Short toe, Skeletal dysplasia, Stippling of the epiphysis of the distal phalanx of the thumb, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Triangular shaped middle phalanx of the 2nd finger, Triangular shaped middle phalanx of the 5th finger, Type A2 brachydactyly, Type C brachydactyly, Ulnar deviation of finger, Ulnar deviation of the 2nd finger, Widened proximal tibial metaphyses
RG-div1	ANKRD20A1	1.349470439	0	Unclassified		
RG-div1	HIST1H1D	1.347639907	0	DNA binding protein	BrainSpLMD|3007;Eurexp|euxassay_000515|marginal layer, ventricular layer	OMIM|142210
RG-div1	SMC2	1.343950116	0	Unclassified	BrainSpLMD|10592;Eurexp|euxassay_011062|cortex, dorsal grey horn, incisor, lobe, lung, marginal layer, molar, orbito-sphenoid, submandibular gland primordium, thymus primordium, turbinate bones, ventral grey horn, ventricular layer, vibrissa	OMIM|605576
RG-div1	DSN1	1.34188896	0	Unclassified	BrainSpLMD|79980;Eurexp|euxassay_001983|ventricular layer	OMIM|609175
RG-div1	FAM107A	1.341679862	0	Unclassified	BrainSpLMD|11170;Eurexp|euxassay_005179|inner ear, olfactory	OMIM|608295
RG-div1	DHFR	1.339716001	0	Enzyme: Oxidoreductase		OMIM|126060;HPO|1719|Absence seizures, Ataxia, Autosomal recessive inheritance, Cerebral atrophy, Delayed myelination, Eyelid myoclonus, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hepatomegaly, Jaundice, Megaloblastic anemia, Pallor, Pancytopenia, Poor head control, Postnatal microcephaly, Thrombocytopenia, Variable expressivity
RG-div1	NOTCH3	1.337818015	0	Cell surface receptor	BrainSpLMD|4854;BrainSpMouseDev|17898	OMIM|600276;HPO|4854|Abnormal electroretinogram, Abnormal form of the vertebral bodies, Abnormality of the hair, Abnormality of the metaphysis, Abnormality of the middle ear ossicles, Abnormality of the musculature, Abnormality of the rib cage, Abnormality of the skin, Abnormality of the skull, Abnormality of the thorax, Abnormality of visual evoked potentials, Adult onset, Amaurosis fugax, Aphasia, Arachnoid cyst, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Autosomal dominant inheritance, Biconcave vertebral bodies, Bone cyst, Cerebral cortical atrophy, Cerebral ischemia, Chondrocalcinosis, Coarse hair, Coma, Conductive hearing impairment, Confusion, Cranial nerve paralysis, Craniofacial hyperostosis, Cryptorchidism, Dementia, Dental crowding, Depressivity, Developmental regression, Dolichocephaly, Downslanted palpebral fissures, Dural ectasia, EEG abnormality, Elevated serum creatine phosphokinase, Fever, Gait disturbance, Generalized hypotonia, Gingival fibromatosis, Hemiplegia, High palate, High, narrow palate, Hypertelorism, Impaired pain sensation, Inguinal hernia, Joint hyperflexibility, Joint hypermobility, Kyphosis, Leukoencephalopathy, Long philtrum, Low posterior hairline, Low-set ears, Malar flattening, Memory impairment, Meningocele, Micrognathia, Migraine, Motor delay, Narrow face, Neoplasm of the lung, Neoplasm of the skin, Nonarteritic anterior ischemic optic neuropathy, Patent ductus arteriosus, Pectus excavatum, Platybasia, Posteriorly rotated ears, Prominent metopic ridge, Pseudobulbar paralysis, Ptosis, Recurrent subcortical infarcts, Retinal arteriolar tortuosity, Sclerosis of skull base, Scoliosis, Seizures, Sensory neuropathy, Short nasal bridge, Short neck, Short stature, Smooth philtrum, Spasticity, Stroke, Subcortical dementia, Subcutaneous nodule, Syringomyelia, Umbilical hernia, Urinary incontinence, Varicose veins, Vertebral fusion, Visual impairment, Wormian bones
RG-div1	SFRP1	1.336960532	0	Secreted polypeptide	BrainSpLMD|6422;BrainSpMouseDev|20140	OMIM|604156
RG-div1	GNG12	1.335661821	0	G protein	BrainSpLMD|55970;Eurexp|euxassay_002072|ventricular layer	OMIM|615405
RG-div1	VAT1L	1.326617992	0	Unclassified	BrainSpLMD|57687;Eurexp|euxassay_004685|adenohypophysis, body-wall mesenchyme, cervical, cervico-thoracic, choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, lateral recess, mantle layer, marginal layer, mesenchyme, thoracic, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|92920	
RG-div1	OIP5	1.322613968	0	Unclassified	BrainSpLMD|11339	OMIM|606020
RG-div1	NDE1	1.320008583	0	Cytoskeletal associated protein	BrainSpLMD|54820;Eurexp|euxassay_010375|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ;BrainSpMouseDev|43046	OMIM|609449;HPO|54820|Agenesis of corpus callosum, Athetosis, Autosomal recessive inheritance, Cerebellar hypoplasia, Congenital onset, Cortical gyral simplification, Generalized myoclonic seizures, Global developmental delay, Hydranencephaly, Hyperreflexia, Hypoplasia of the brainstem, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Lissencephaly, Macrotia, Microcephaly, Multiple joint contractures, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Proptosis, Seizures, Self-mutilation, Short stature, Skeletal muscle atrophy, Sloping forehead, Spastic tetraplegia, Talipes equinovarus, Ventriculomegaly
RG-div1	CCDC150	1.317937507	0	Cytoskeletal protein	BrainSpLMD|284992	
RG-div1	ANKRD20A2	1.317379369	0	Unclassified		
RG-div1	E2F2	1.317360198	0	Transcription factor	BrainSpLMD|1870;BrainSpMouseDev|88998	OMIM|600426
RG-div1	EIF2AK3	1.312945864	0	Translation regulatory protein	BrainSpLMD|9451	OMIM|604032;HPO|9451|Abnormal heart morphology, Abnormality of the metaphysis, Acute hepatic failure, Autosomal recessive inheritance, Barrel-shaped chest, Brachydactyly, Carpal bone hypoplasia, Chronic hepatic failure, Cone-shaped epiphyses of the phalanges of the hand, Coxa valga, Death in infancy, Dehydration, Delayed skeletal maturation, Depressed nasal bridge, Elevated hepatic transaminases, Enlarged thorax, Epicanthus, Epiphyseal dysplasia, Flattened epiphysis, Gait disturbance, Genu valgum, Global developmental delay, Glycosuria, Hepatomegaly, High forehead, High palate, Hip dislocation, Hip subluxation, Hyperglycemia, Hyperlordosis, Hypermetropia, Hypertelorism, Hypertonia, Hyperuricemia, Hypoplasia of the odontoid process, Infantile onset, Insulin-resistant diabetes mellitus, Intellectual disability, Intracerebral periventricular calcifications, Irregular carpal bones, Irregular tarsal ossification, Irregular vertebral endplates, Ivory epiphyses of the phalanges of the hand, Ivory epiphyses of the toes, Ketoacidosis, Microcephaly, Microdontia, Motor delay, Multiple epiphyseal dysplasia, Muscular hypotonia, Narrow iliac wings, Neutropenia, Osteopenia, Osteoporosis, Platyspondyly, Preauricular pit, Reduced pancreatic beta cells, Renal insufficiency, Renal tubular dysfunction, Short stature, Short thorax, Shortening of all middle phalanges of the fingers, Small epiphyses, Steatorrhea, Thin vermilion border, Transient neonatal diabetes mellitus, Triangular face, Type I diabetes mellitus, Upslanted palpebral fissure, Weight loss
RG-div1	DDX11	1.308640503	0	RNA binding protein		SFARI||Autism, 5 - Hypothesized but untested;OMIM|601150;HPO|1663|2-3 toe syndactyly, Autosomal recessive inheritance, Cupped ear, Cutis marmorata, Epicanthus, Generalized hypotonia, Global developmental delay, Hearing impairment, High palate, Hypoplasia of the cochlea, Intellectual disability, Intrauterine growth retardation, Microcephaly, Optic nerve coloboma, Single transverse palmar crease, Sloping forehead, Small face, Ventricular septal defect, Wide mouth
RG-div1	YAP1	1.308045255	0	Transcription regulatory protein	BrainSpLMD|10413	OMIM|606608;HPO|10413|Autosomal dominant inheritance, Bilateral cleft lip and palate, Chorioretinal coloboma, Hematuria, Intellectual disability, Iris coloboma, Microphthalmia, Sensorineural hearing impairment
RG-div1	EMP2	1.30099866	0	Cell cycle control protein	BrainSpLMD|2013;Eurexp|euxassay_013721|bladder, epithelium, incisor, larynx, left lung, mantle layer, marginal layer, midgut, molar, pharyngo-tympanic tube, rectum, right lung, skeletal muscle, stomach, thymus primordium, trachea, urethra, ventricular layer, vibrissa	OMIM|602334;HPO|2013|Autosomal recessive inheritance, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome
RG-div1	GEN1	1.299513236	0	DNA binding protein	BrainSpLMD|348654	OMIM|612449
RG-div1	GPSM2	1.295446594	0	Cell cycle control protein		OMIM|609245;HPO|29899|Arachnoid cyst, Autosomal recessive inheritance, Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus callosum, Gray matter heterotopias, Hydrocephalus, Hypoplasia of the corpus callosum, Large foramen magnum, Partial agenesis of the corpus callosum, Polymicrogyria, Severe sensorineural hearing impairment, Ventriculomegaly
RG-div1	ITGA6	1.291446959	0	Cell surface receptor	BrainSpLMD|3655;Eurexp|euxassay_012071|cortex, incisor, lung, mantle layer, metanephros, molar, pancreas, penis, rectum, ventral grey horn, ventricle	OMIM|147556;HPO|3655|Abdominal distention, Abnormality of the genitourinary system, Anonychia, Aplasia cutis congenita, Aplasia of the bladder, Arthrogryposis multiplex congenita, Atrophic scars, Autosomal recessive inheritance, Axillary pterygia, Congenital onset, Congenital pyloric atresia, Death in infancy, Ectropion, Elevated maternal serum alpha-fetoprotein, Esophageal atresia, Fragile skin, Hematuria, Hydronephrosis, Hypoplasia of dental enamel, Intestinal atresia, Intractable diarrhea, Junctional split, Milia, Nail dysplasia, Nail dystrophy, Nausea and vomiting, Oral mucosal blisters, Polyhydramnios, Recurrent skin infections, Renal duplication, Renal dysplasia, Ureterocele, Urethral stricture, Urinary bladder inflammation
RG-div1	PKP4	1.291399599	0	Cell junction protein	BrainSpLMD|8502	OMIM|604276
RG-div1	RFWD3	1.289144154	0	Unclassified	BrainSpLMD|55159	OMIM|614151
RG-div1	COL4A6	1.287871472	0	Extracellular matrix protein	BrainSpLMD|1288;Eurexp|euxassay_009999|associated mesenchyme, basioccipital bone, clavicle, femur, fibula, humerus, lens, mandible, maxilla, meninges, nasal septum, orbito-sphenoid, otic capsule, petrous part, phalanx, renal/urinary system, rib, submandibular gland primordium, tibia, trunk mesenchyme, turbinate bones, vault of skull	OMIM|303631;HPO|1288|Cochlear malformation, Hearing impairment, X-linked recessive inheritance
RG-div1	ETV5	1.286556039	0	Transcription regulatory protein	BrainSpLMD|2119;Eurexp|euxassay_000518|calyces, cranium, incisor, lung, otic capsule, submandibular gland primordium, testis, turbinate bones, ventricular layer;BrainSpMouseDev|68321	OMIM|601600;COSMIC||prostate
RG-div1	SOX9	1.286514157	0	Transcription factor	BrainSpLMD|6662;Eurexp|euxassay_002633|axial skeleton, basisphenoid bone, calyces, exoccipital bone, femur, lung, mesenchyme, naris, nasal septum, nucleus pulposus, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, pharyngo-tympanic tube, trachea, turbinate, ventricular layer, vibrissa;BrainSpMouseDev|20444	OMIM|608160;HPO|6662|11 pairs of ribs, Abnormal heart morphology, Abnormal scrotal rugation, Abnormal sex determination, Abnormality of male internal genitalia, Abnormality of the labia, Abnormality of the pharynx, Abnormality of the scrotum, Abnormality of the uterus, Absent sternal ossification, Ambiguous genitalia, Anterior tibial bowing, Apnea, Autosomal dominant inheritance, Azoospermia, Bifid scrotum, Blepharophimosis, Cleft palate, Clitoral hypertrophy, Cryptorchidism, Decreased fertility, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Depressed nasal bridge, Depressed nasal ridge, Disproportionate short-limb short stature, Dysgerminoma, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Failure to thrive, Female external genitalia in individual with 46,XY karyotype, Femoral bowing, Fibular hypoplasia, Flat face, Generalized hypotonia, Glossoptosis, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hearing impairment, High forehead, Hip dislocation, Hydrocephalus, Hydronephrosis, Hypergonadotropic hypogonadism, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the vagina, Hypoplastic cervical vertebrae, Hypoplastic iliac wing, Hypoplastic inferior ilia, Hypoplastic scapulae, Hypospadias, Kyphoscoliosis, Laryngomalacia, Low-set ears, Macrocephaly, Male hypogonadism, Male infertility, Male pseudohermaphroditism, Micrognathia, Micropenis, Narrow chest, Neonatal respiratory distress, Neonatal short-limb short stature, Osteoporosis, Polycystic ovaries, Polyhydramnios, Poorly ossified cervical vertebrae, Primary amenorrhea, Proptosis, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Scrotal hypoplasia, Sex reversal, Short neck, Short palpebral fissure, Short stature, Shortening of all phalanges of fingers, Shortening of all phalanges of the toes, Skin dimples, Small abnormally formed scapulae, Small face, Sparse axillary hair, Sparse pubic hair, Streak ovary, Talipes equinovarus, Testicular dysgenesis, Thin ribs, Thoracic hypoplasia, Tibial bowing, Tracheobronchomalacia, True hermaphroditism, Upper airway obstruction, Urogenital sinus anomaly, Vanishing testis, Wide anterior fontanel
RG-div1	S1PR3	1.282068147	0	G protein coupled receptor		OMIM|601965
RG-div1	CLU	1.279196989	0	Complement protein	BrainSpLMD|1191;BrainSpMouseDev|12543	OMIM|185430
RG-div1	PROM1	1.278774439	0	Integral membrane protein	BrainSpLMD|8842;BrainSpMouseDev|18889	OMIM|604365;HPO|8842|Abnormal electroretinogram, Abnormality of color vision, Abnormality of macular pigmentation, Abnormality of retinal pigmentation, Abnormality of the choroid, Abnormality of the fovea, Abnormality of the retinal vasculature, Abnormality of the testis, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the macula, Atypical scarring of skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cataract, Central scotoma, Conductive hearing impairment, Cone/cone-rod dystrophy, Dyschromatopsia, Glaucoma, Granular macular appearance, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Macular degeneration, Macular dystrophy, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paroxysmal involuntary eye movements, Perifoveal ring of hyperautofluorescence, Peripheral visual field loss, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Retinal thinning, Rod-cone dystrophy, Sensorineural hearing impairment, Undetectable electroretinogram, Wide nasal bridge, Yellow/white lesions of the macula
RG-div1	DFNB31	1.277151029	0			
RG-div1	NOTCH2	1.269556055	0	Cell surface receptor	BrainSpLMD|4853;Eurexp|euxassay_015406|alimentary system, cardiovascular system, cavities and their linings, choroid plexus, gland, integumental system, limb, marginal layer, meninges, mesenchyme, olfactory, renal/urinary system, reproductive system, respiratory system, skeleton, tail, ventricular layer, vertebral axis muscle system, vomeronasal organ;BrainSpMouseDev|17896	OMIM|600275;COSMIC||marginal zone lymphoma, DLBCL, bladder, Hajdu-Cheney syndrome, serpentine fibula-polycystic kidney syndrome;HPO|4853|Abnormality of the cardiac septa, Abnormality of the fingernails, Absent frontal sinuses, Anteverted nares, Arnold-Chiari malformation, Arthralgia, Atrial septal defect, Autosomal dominant inheritance, Basilar impression, Biconcave vertebral bodies, Bone pain, Brachydactyly, Broad forehead, Cervical instability, Cholestasis, Cholestatic liver disease, Coarse facial features, Conductive hearing impairment, Crowded carpal bones, Cryptorchidism, Decreased skull ossification, Dental malocclusion, Dislocated radial head, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Elongated sella turcica, Epicanthus, Failure to thrive, Foot acroosteolysis, Full cheeks, Generalized hirsutism, Genu valgum, Hearing impairment, Hematuria, High palate, Hirsutism, Hydrocephalus, Hypertelorism, Hypertension, Hypoplastic 5th lumbar vertebrae, Hypospadias, Inguinal hernia, Joint hyperflexibility, Joint laxity, Kyphoscoliosis, Large earlobe, Long eyelashes, Long nose, Long philtrum, Low-set ears, Macrocephaly, Micrognathia, Narrow mouth, Open bite, Osteolysis, Osteolytic defects of the phalanges of the hand, Osteopenia, Osteoporosis, Partial absence of toe, Patent ductus arteriosus, Pathologic fracture, Periodontitis, Peripheral pulmonary artery stenosis, Phenotypic variability, Platybasia, Pointed chin, Posterior embryotoxon, Premature loss of teeth, Prominent occiput, Proteinuria, Pulmonic stenosis, Recurrent fractures, Renal cyst, Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Scoliosis, Short distal phalanx of finger, Short nail, Short neck, Short stature, Short toe, Skeletal dysplasia, Synophrys, Tall lumbar vertebral bodies, Telecanthus, Tetralogy of Fallot, Thick eyebrow, Thin vermilion border, Triangular face, Umbilical hernia, Vertebral compression fractures, Wide nose, Wormian bones
RG-div1	SFRP2	1.268921071	0	Secreted polypeptide	BrainSpLMD|6423;BrainSpMouseDev|20082	OMIM|604157
RG-div1	HELLS	1.267435287	0	DNA binding protein	BrainSpLMD|3070	OMIM|603946;HPO|3070|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Congenital onset, Decreased antibody level in blood, Depressed nasal bridge, Epicanthus, Global developmental delay, Hypertelorism, Intellectual disability, Lymphopenia, Macrocephaly, Malabsorption, Micrognathia, Recurrent infections, Recurrent respiratory infections, Short stature
RG-div1	COL9A1	1.266312176	0	Extracellular matrix protein	BrainSpLMD|1297;Eurexp|euxassay_011520|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, hyoid bone, mandible, maxilla, metacarpus, metatarsus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, radius, rib, scapula, sternum, submandibular gland primordium, temporal bone, thyroid, tibia, trachea, turbinate, ulna, vault of skull;BrainSpMouseDev|12622	OMIM|120210;HPO|1297|Abnormality of epiphysis morphology, Abnormality of the knee, Amblyopia, Arthralgia, Arthralgia of the hip, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Childhood onset, Cleft palate, Degenerative vitreoretinopathy, Epiphyseal dysplasia, Flat capital femoral epiphysis, Flat distal femoral epiphysis, Flat face, Gait disturbance, Genu valgum, Hip dysplasia, Irregular distal femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Limitation of joint mobility, Malar flattening, Micrognathia, Micromelia, Multiple epiphyseal dysplasia, Myopia, Osteoarthritis, Platyspondyly, Retinal detachment, Schmorl's node, Sensorineural hearing impairment, Severe Myopia, Short stature, Small epiphyses, Vitreoretinal degeneration
RG-div1	CCDC173	1.265750964	0	Unclassified		
RG-div1	NAPEPLD	1.263043387	0	Enzyme: Phospholipase	BrainSpLMD|222236	OMIM|612334
RG-div1	TRIP13	1.260869452	0	ATPase	BrainSpLMD|9319;Eurexp|euxassay_019567|axial skeleton, incisor, liver, lung, metanephros, midgut, molar, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa;BrainSpMouseDev|45557	OMIM|604507;HPO|9319|Abnormality of vision, Ascites, Cataract, Corneal opacity, Dandy-Walker malformation, Epicanthus, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Polyhydramnios, Short stature, Triangular face
RG-div1	MOXD1	1.259854396	0	Enzyme: Oxygenase	BrainSpLMD|26002	OMIM|609000
RG-div1	TAF13	1.253880897	0	Transcription factor	BrainSpLMD|6884;Eurexp|euxassay_001598|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, submandibular gland primordium, trigeminal V, vagus X;BrainSpMouseDev|63900	OMIM|600774;HPO|6884|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Delayed puberty, Delayed skeletal maturation, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Small for gestational age, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vesicoureteral reflux
RG-div1	RP11.386J22.3	1.253524475	0			
RG-div1	ZFP36L1	1.252069471	0	Transcription factor	BrainSpLMD|677;Eurexp|euxassay_007310|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|11978	OMIM|601064
RG-div1	RFX4	1.249524809	0	DNA binding protein	BrainSpLMD|5992;Eurexp|euxassay_005798|ventricular layer;BrainSpMouseDev|46978	OMIM|603958
RG-div1	FOS	1.243407559	0	Transcription factor	BrainSpLMD|2353;Eurexp|euxassay_012634|mandible, maxilla;BrainSpMouseDev|14058	OMIM|164810;HPO|2353|Abnormality of skin pigmentation, Acanthosis nigricans, Accelerated skeletal maturation, Bone cyst, Broad foot, Diabetes mellitus, Generalized hirsutism, Growth hormone excess, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hyperinsulinemia, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Insulin resistance, Intellectual disability, Large hands, Lipoatrophy, Mandibular prognathia, Precocious puberty, Prominent supraorbital ridges, Skeletal muscle hypertrophy
RG-div1	ZIC2	1.242455049	0	Transcription regulatory protein	BrainSpLMD|7546;BrainSpMouseDev|22529	OMIM|603073;HPO|7546|Abnormal facial shape, Autosomal dominant inheritance, Global developmental delay, Holoprosencephaly, Hydrocephalus, Intellectual disability, Microcephaly, Synophrys, Trigonocephaly
RG-div1	TMEM47	1.242123435	0	Integral membrane protein	BrainSpLMD|83604;Eurexp|euxassay_008336|ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|300698
RG-div1	RP11.263K19.4	1.235135194	0			
RG-div1	ID4	1.234994899	0	Transcription regulatory protein	BrainSpLMD|3400;BrainSpMouseDev|15677	OMIM|600581
RG-div1	ZWILCH	1.233913073	0	Unclassified	BrainSpLMD|55055	SFARI||Autism, 4 - Minimal evidence;OMIM|609984
RG-div1	MCM8	1.233762289	0	DNA binding protein	BrainSpLMD|84515;Eurexp|euxassay_005154|brain, central nervous system, incisor, lung, metanephros, molar, olfactory, retina, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, tongue, vibrissa	OMIM|608187;HPO|84515|Autosomal recessive inheritance, Azoospermia, Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Hypothyroidism, Premature ovarian insufficiency, Primary amenorrhea
RG-div1	TUBA1B	1.231227465	0	Structural protein	BrainSpLMD|10376	OMIM|602530
RG-div1	TMEM194A	1.229719751	0			
RG-div1	GMNN	1.228986462	0	Cell cycle control protein	BrainSpLMD|51053;Eurexp|euxassay_013652|cortex, incisor, lobe, lung, molar, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|602842;HPO|51053|Abnormality of epiphysis morphology, Abnormality of the ribs, Anotia, Aplastic clavicles, Atresia of the external auditory canal, Autosomal dominant inheritance, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Conductive hearing impairment, Craniosynostosis, Cryptorchidism, Delayed puberty, Delayed skeletal maturation, Depressed nasal ridge, Failure to thrive, Feeding difficulties, Growth hormone deficiency, High, narrow palate, Hip dysplasia, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Microtia, third degree, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Recurrent respiratory infections, Respiratory distress, Respiratory failure, Retrognathia, Severe short stature, Short middle phalanx of finger, Slender long bone, Stenosis of the external auditory canal, Umbilical hernia
RG-div1	GULP1	1.224513759	0	Adapter molecule	BrainSpLMD|51454	OMIM|608165
RG-div1	AIF1L	1.224017856	0	Calcium binding protein	BrainSpLMD|83543;Eurexp|euxassay_002250|basisphenoid bone, orbito-sphenoid, turbinate, ventricular layer	
RG-div1	PPAP2B	1.223219454	0			
RG-div1	KIF20B	1.223121287	0	Cell cycle control protein	BrainSpLMD|9585	OMIM|605498
RG-div1	PAXIP1	1.219132618	0	Transcription regulatory protein	BrainSpLMD|22976	OMIM|608254
RG-div1	ANP32E	1.21651839	0	Unclassified	BrainSpLMD|81611	OMIM|609611
RG-div1	RHOQ	1.214791754	0	GTPase		OMIM|605857
RG-div1	Z83001.1	1.21159331	0			
RG-div1	CHAF1A	1.210399727	0	Chaperone	BrainSpLMD|10036	OMIM|601246
RG-div1	CAPG	1.206479687	0	Cytoskeletal associated protein	BrainSpLMD|822;Eurexp|euxassay_014310|epithelium, incisor, mandible, maxilla, molar, oral epithelium, pharyngo-tympanic tube	OMIM|153615
RG-div1	FOXN4	1.206282022	0	Transcription factor	BrainSpLMD|121643;Eurexp|euxassay_019663|neural retina, ventricular layer;BrainSpMouseDev|78123	OMIM|609429
RG-div1	TCF19	1.201148559	0	Transcription factor	BrainSpLMD|6941	OMIM|600912
RG-div1	RPL21P28	1.195908751	0			
RG-div1	HSPA4L	1.195007342	0	Heat shock protein	BrainSpLMD|22824;Eurexp|euxassay_006441|cervico-thoracic, diencephalon, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, hindbrain, left, mantle layer, mesenchyme, midbrain, midgut, neural retina, olfactory, pituitary, posterior, right, skeletal muscle, spinal cord, thoracic, thymus primordium, trachea, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	
RG-div1	MND1	1.193541533	0	Unclassified	BrainSpLMD|84057	OMIM|611422
RG-div1	CLSPN	1.191992589	0	Cell cycle control protein	BrainSpLMD|63967;Eurexp|euxassay_004199|ventricular layer	OMIM|605434
RG-div1	SPATA13	1.183475355	0	Unclassified	BrainSpLMD|221178;Eurexp|euxassay_009443|ventricular layer	OMIM|613324
RG-div1	DOCK1	1.183288574	0	Guanine nucleotide exchange factor	BrainSpLMD|1793	SFARI||Autism, 4 - Minimal evidence;OMIM|601403
RG-div1	PER1	1.178688649	0	Transcription regulatory protein	BrainSpLMD|5187;BrainSpMouseDev|18392	SFARI||Autism, 4 - Minimal evidence;OMIM|602260;COSMIC||AML, CMML
RG-div1	MAFF	1.176537543	0	Transcription factor	BrainSpLMD|23764	OMIM|604877
RG-div1	NEDD9	1.175165244	0	Adhesion molecule	BrainSpLMD|4739;Eurexp|euxassay_006351|aorta, calyces, cortex, epithelium, incisor, left lung, mesenchyme, midgut, molar, olfactory, pelvis, rectum, retina, right lung, sternum, stomach, thymus primordium, thyroid, trachea, ureter, ventricular layer, vibrissa, vomeronasal organ	OMIM|602265
RG-div1	STON2	1.174744269	0	Unclassified	BrainSpLMD|85439	OMIM|608467
RG-div1	CNTNAP3B	1.172161264	0			
RG-div1	TGIF1	1.171824999	0	Transcription factor	BrainSpLMD|7050;Eurexp|euxassay_007804|cortex, fundus region, hindgut, lung, midgut, oesophagus, rectum, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|21574	OMIM|602630;HPO|7050|Absent nasal septal cartilage, Autosomal dominant inheritance, Depressed nasal bridge, Depressed nasal tip, Hypotelorism, Median cleft lip, Median cleft lip and palate, Ptosis, Semilobar holoprosencephaly
RG-div1	MT2A	1.169932417	0	Unclassified	Eurexp|euxassay_004529|left, oesophagus, pancreas, pharyngo-tympanic tube, right, stomach, submandibular gland primordium, thyroid, vibrissa	OMIM|156360
RG-div1	TBC1D1	1.167737228	0	Unclassified	BrainSpLMD|23216	OMIM|609850
RG-div1	PLCE1	1.167469908	0	Guanine nucleotide exchange factor	BrainSpLMD|51196;Eurexp|euxassay_014545|floor plate, floorplate	OMIM|608414;HPO|51196|Autosomal recessive inheritance, Childhood onset, Diffuse mesangial sclerosis, Edema, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Progressive, Proteinuria, Stage 5 chronic kidney disease
RG-div1	CDCA7L	1.165462659	0	Transcription factor	BrainSpLMD|55536;Eurexp|euxassay_003467|adenohypophysis, epidermis, fundus region, glomeruli, hindgut, left lung, lobe, lumen, lung, marginal layer, midgut, neural retina, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, respiratory, right lung, stomach, submandibular gland primordium, testis, thymus primordium, trachea, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|85297	OMIM|609685
RG-div1	DBI	1.16415728	0	Ligand	BrainSpLMD|1622;BrainSpMouseDev|12947	OMIM|125950
RG-div1	GATM	1.161073901	0	Enzyme: Amidinotransferase	BrainSpLMD|2628;Eurexp|euxassay_005674|diaphragm, footplate, frenulum, handplate, lower leg, paraxial mesenchyme, shoulder, skeletal muscle, upper arm, upper leg, vertebral axis muscle system	SFARI||Autism, No category;OMIM|602360;HPO|2628|Abnormality of creatine metabolism, Autism, Autosomal recessive inheritance, Delayed speech and language development, Failure to thrive, Global developmental delay, Infantile onset, Intellectual disability, Organic aciduria
RG-div1	ADCY3	1.160888173	0	Adenylate cyclase	BrainSpLMD|109;Eurexp|euxassay_018616|facial VII, olfactory, trigeminal V, ventral grey horn	SFARI||Autism, 3 - Suggestive evidence;OMIM|600291
RG-div1	DOK5	1.160211712	0	Adapter molecule	BrainSpLMD|55816	OMIM|608334
RG-div1	JAM2	1.158939349	0	Adhesion molecule	BrainSpLMD|58494	OMIM|606870
RG-div1	IQGAP2	1.158561967	0	GTPase activating protein	BrainSpLMD|10788;Eurexp|euxassay_013405|adrenal gland, incisor, intervertebral disc, lobe, mandible, mesenchyme, metanephros, midgut, oesophagus, skeletal muscle, stomach, thymus primordium, ventricular layer, vertebral axis muscle system, vertebral cartilage condensation	OMIM|605401
RG-div1	GPX3	1.156754849	0	Enzyme: Peroxidase	BrainSpLMD|2878;Eurexp|euxassay_003296|foregut-midgut junction, hindgut, incisor, left atrium, midgut, right atrium, stomach;BrainSpMouseDev|14554	OMIM|138321
RG-div1	CASC10	1.154218625	0	Unclassified		
RG-div1	RFC3	1.153008785	0	DNA binding protein	BrainSpLMD|5983;Eurexp|euxassay_010694|submandibular gland primordium, ventricular layer	OMIM|600405
RG-div1	PON2	1.152254013	0	Enzyme: Esterase	BrainSpLMD|5445	OMIM|602447;HPO|5445|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
RG-div1	MCM3	1.15202855	0	DNA binding protein	BrainSpLMD|4172;Eurexp|euxassay_001694|marginal layer, ventricular layer	OMIM|602693
RG-div1	STOX2	1.151101828	0	Unclassified	Eurexp|euxassay_008526|ventricular layer	OMIM|617359
RG-div1	MYO1E	1.149729347	0	Motor protein	BrainSpLMD|4643	OMIM|601479;HPO|4643|Autosomal recessive inheritance, Chronic kidney disease, Edema, Focal segmental glomerulosclerosis, Hematuria, Hypoalbuminemia, Nephrotic syndrome, Progressive, Proteinuria, Tubular atrophy
RG-div1	UCP2	1.145689956	0	Transport/cargo protein	BrainSpLMD|7351;Eurexp|euxassay_010584|liver, olfactory, vibrissa, vomeronasal organ	OMIM|601693;HPO|7351|Abnormality of fatty-acid metabolism, Coma, Diarrhea, Hepatomegaly, Hyperhidrosis, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Neonatal hypoglycemia, Pallor, Pancreatic islet-cell hyperplasia, Progressive neurologic deterioration, Tachycardia, Vomiting
RG-div1	SOX3	1.145073149	0	Transcription factor	BrainSpLMD|6658;Eurexp|euxassay_019627|ventricular layer;BrainSpMouseDev|20437	OMIM|313430;HPO|6658|Abnormal prolactin level, Abnormality of secondary sexual hair, Agenesis of corpus callosum, Ambiguous genitalia, Amenorrhea, Anterior pituitary hypoplasia, Aplasia/Hypoplasia of the breasts, Cleft palate, Cryptorchidism, Decreased circulating ACTH level, Decreased testicular size, Depressed nasal ridge, Fatigue, Global developmental delay, Growth hormone deficiency, Hemiplegia/hemiparesis, Hypoglycemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypotension, Hypothyroidism, Infertility, Intellectual disability, mild, Male hypogonadism, Nystagmus, Panhypopituitarism, Pituitary dwarfism, Pituitary hypothyroidism, Polycystic ovaries, Seizures, Septo-optic dysplasia, Short stature, Strabismus, Visual impairment, X-linked inheritance
RG-div1	TDP1	1.143330104	0	Enzyme: Phosphodiesterase	BrainSpLMD|55775	OMIM|607198;HPO|55775|Ataxia, Autosomal recessive inheritance, Distal amyotrophy, Peripheral axonal neuropathy, Pes cavus, Steppage gait
RG-div1	KIF4B	1.142190425	0	Motor protein		OMIM|609184
RG-div1	RFC2	1.139022695	0	DNA binding protein	BrainSpLMD|5982	OMIM|600404;HPO|5982|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the neck, Anxiety, Arthralgia, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad forehead, Cerebral ischemia, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Dental malocclusion, Depressivity, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Epicanthus, Everted lower lip vermilion, Failure to thrive in infancy, Gait imbalance, Genu valgum, Hallux valgus, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Inguinal hernia, Insomnia, Intellectual disability, Joint stiffness, Kyphosis, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Microcephaly, Microdontia, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Open bite, Overfriendliness, Pelvic kidney, Periorbital edema, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Proteinuria, Protruding ear, Pulmonic stenosis, Redundant skin, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Visual impairment, Wide mouth, Wide nasal bridge
RG-div1	RRM1	1.136397302	0	Cell cycle control protein	BrainSpLMD|6240;Eurexp|euxassay_018692|cortex, incisor, lobe, lung, mandible, marginal layer, mesenchyme, molar, neural retina, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|180410
RG-div1	DNAJC1	1.13299358	0	Chaperone	BrainSpLMD|64215	OMIM|611207
RG-div1	FGFR3	1.132709744	0	Receptor tyrosine kinase;Tyrosine kinase	BrainSpLMD|2261;Eurexp|euxassay_006120|embryo;BrainSpMouseDev|13961	OMIM|134934;COSMIC||bladder, MM, T-cell lymphoma, Hypochondroplasia, Thanatophoric dysplasia;HPO|2261|2-3 finger syndactyly, Abnormal form of the vertebral bodies, Abnormality of femur morphology, Abnormality of lower limb joint, Abnormality of metabolism/homeostasis, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the cervical spine, Abnormality of the clavicle, Abnormality of the elbow, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the ribs, Absence of Stensen duct, Absent lacrimal punctum, Absent proximal phalanx of thumb, Absent radius, Acanthosis nigricans, Alacrima, Anteverted nares, Aplasia of the parotid gland, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the mandible, Aplasia/hypoplasia of the extremities, Arachnodactyly, Arnold-Chiari malformation, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bilateral triphalangeal thumbs, Blepharospasm, Bowing of the long bones, Brachycephaly, Brachydactyly, Brain atrophy, Brain stem compression, Broad femoral metaphyses, Broad forehead, Broad hallux, Camptodactyly of finger, Camptodactyly of toe, Capitate-hamate fusion, Carious teeth, Carpal synostosis, Central apnea, Childhood onset short-limb short stature, Choanal atresia, Chronic otitis media, Clinodactyly, Clinodactyly of the 5th finger, Cloverleaf skull, Cognitive impairment, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Conical incisor, Convex nasal ridge, Corneal perforation, Coronal craniosynostosis, Coronal hypospadias, Craniosynostosis, Cryptorchidism, Cupped ear, Dacryocystitis, Decreased fetal movement, Delayed cranial suture closure, Delayed eruption of primary teeth, Dental crowding, Dental malocclusion, Depressed nasal bridge, Diaphyseal thickening, Downslanted palpebral fissures, Enlarged cerebellum, Excessive wrinkled skin, External ear malformation, Facial asymmetry, Femoral bowing, Fibular bowing, Finger syndactyly, Flared metaphysis, Flat face, Frontal bossing, Generalized joint laxity, Generalized seizures, Genu varum, Global developmental delay, Gonadal dysgenesis, Hearing impairment, Hereditary nonpolyposis colorectal carcinoma, Heterotopia, High forehead, High palate, High, narrow palate, Hydrocephalus, Hyperextensible skin, Hyperhidrosis, Hyperlordosis, Hypertelorism, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the corpus callosum, Hypoplasia of the lacrimal puncta, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic ilia, Hypoplastic lacrimal duct, Increased intracranial pressure, Increased nuchal translucency, Increased vertebral height, Infantile muscular hypotonia, Inflammatory abnormality of the eye, Intellectual disability, Intellectual disability, profound, Intellectual disability, severe, Intrauterine growth retardation, Joint contracture of the hand, Joint hyperflexibility, Kyphosis, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Lethal short-limbed short stature, Limited elbow extension, Limited hip extension, Long thorax, Low anterior hairline, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Macrocephaly, Malar flattening, Megalencephaly, Melanocytic nevus, Mesomelia, Metaphyseal chondrodysplasia, Metaphyseal irregularity, Microcephaly, Micromelia, Microtia, Midface retrusion, Mixed hearing impairment, Motor delay, Muscular hypotonia, Narrow chest, Narrow internal auditory canal, Narrow palate, Narrow sacroiliac notch, Nasolacrimal duct obstruction, Neonatal death, Neonatal short-limb short stature, Neoplasm, Neoplasm of the stomach, Nephrosclerosis, Numerous nevi, Obesity, Obstructive sleep apnea, Open bite, Osteochondroma, Otitis media, Partial duplication of thumb phalanx, Pectus excavatum, Periorbital fullness, Plagiocephaly, Platyspondyly, Polyhydramnios, Preaxial polydactyly, Prominent crus of helix, Prominent nasal bridge, Proptosis, Ptosis, Radial deviation of finger, Radial deviation of the 3rd finger, Recurrent corneal erosions, Recurrent otitis media, Redundant skin, Renal agenesis, Renal cell carcinoma, Respiratory insufficiency, Rhizomelia, Scoliosis, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe platyspondyly, Severe short stature, Short femoral neck, Short femur, Short foot, Short long bone, Short middle phalanx of finger, Short middle phalanx of toe, Short palm, Short ribs, Short sacroiliac notch, Short stature, Short thorax, Short toe, Skeletal dysplasia, Sleep apnea, Small abnormally formed scapulae, Small face, Small foramen magnum, Small thenar eminence, Somatic mutation, Spinal stenosis with reduced interpedicular distance, Split hand, Sporadic, Strabismus, Tall stature, Tarsal synostosis, Telecanthus, Teratoma, Thimble-shaped middle phalanges of hand, Tibial bowing, Transitional cell carcinoma of the bladder, Trident hand, Turricephaly, Underdeveloped supraorbital ridges, Upper airway obstruction, Uterine leiomyosarcoma, Ventriculomegaly, Visual field defect, Wide anterior fontanel, Wide-cupped costochondral junctions, Wormian bones, Xerostomia
RG-div1	APOLD1	1.132677598	0	Unclassified	BrainSpLMD|81575;Eurexp|euxassay_014175|ventricle	OMIM|612456
RG-div1	C19orf48	1.131339735	0	Unclassified	BrainSpLMD|84798	
RG-div1	RANGAP1	1.125268907	0	GTPase activating protein	BrainSpLMD|5905;Eurexp|euxassay_018242|brain	OMIM|602362
RG-div1	LDLR	1.125120026	0	Cell surface receptor	BrainSpLMD|3949;Eurexp|euxassay_010458|adrenal gland, cervical, cervico-thoracic, clavicle, hindgut, incisor, mandible, maxilla, metanephros, midgut, orbito-sphenoid, otic capsule, rib, submandibular gland primordium, thoracic, turbinate, ventral grey horn	OMIM|606945;HPO|3949|Abnormality of internal carotid artery, Angina pectoris, Aortic atherosclerosis, Autosomal dominant inheritance, Cerebral artery atherosclerosis, Corneal arcus, Coronary atherosclerosis, Dyspnea, Heart murmur, Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia, Hypertension, Increased circulating low-density lipoprotein levels, Left ventricular failure, Myocardial infarction, Myocardial steatosis, Peripheral arterial stenosis, Precocious atherosclerosis, Premature arteriosclerosis, Premature coronary artery disease, Renal artery stenosis, Sudden cardiac death, Xanthelasma
RG-div1	RP1.104O17.1	1.124525576	0			
RG-div1	MPPED2	1.124350544	0	Enzyme: Hydrolase	BrainSpLMD|744;Eurexp|euxassay_014223|axial skeleton, head mesenchyme, rib, thyroid, ventricular layer	OMIM|600911
RG-div1	TIMELESS	1.123597833	0	Transcription regulatory protein	BrainSpLMD|8914	OMIM|603887
RG-div1	NR2E1	1.118816619	0	Nuclear receptor	BrainSpLMD|7101;Eurexp|euxassay_007190|epidermis, olfactory, retina, ventricular layer;BrainSpMouseDev|21664	OMIM|603849
RG-div1	GPC4	1.118190699	0	Integral membrane protein	BrainSpLMD|2239;Eurexp|euxassay_004882|aorta, bladder, clavicle, cochlea, diaphragm, dorsal grey horn, extrinsic ocular muscle, handplate, hindgut, lung, mandible, mantle layer, maxilla, maxillary division, medulla, mesenchyme, metanephros, midgut, pancreas, penis, pharyngo-tympanic tube, skeletal muscle, sternum, stomach, submandibular gland primordium, testis, thymus primordium, ventral grey horn, ventricular layer, vertebral axis muscle system	SFARI||Autism, 3 - Suggestive evidence;OMIM|300168;HPO|2239|2-3 finger syndactyly, Abnormal lung lobation, Abnormality of the helix, Abnormality of the ribs, Accelerated skeletal maturation, Agenesis of corpus callosum, Anteverted nares, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Birth length greater than 97th percentile, Broad foot, Broad palm, Broad secondary alveolar ridge, Broad thumb, Broad toe, Bundle branch block, Camptodactyly of finger, Cardiomyopathy, Cerebellar vermis hypoplasia, Cervical ribs, Cleft palate, Clinodactyly of the 5th finger, Coarse facial features, Congenital diaphragmatic hernia, Cryptorchidism, Death in infancy, Dental malocclusion, Depressed nasal bridge, Diastasis recti, Downslanted palpebral fissures, Duplication of renal pelvis, Enlarged kidney, Epicanthus, Finger syndactyly, Flared iliac wings, Generalized hypotonia, Hearing impairment, Hepatomegaly, Heterogeneous, High, narrow palate, Hydrocephalus, Hydronephrosis, Hydroureter, Hypertelorism, Hypoglycemia, Hypospadias, Increased IgE level, Inguinal hernia, Intestinal malrotation, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Mandibular prognathia, Meckel diverticulum, Multicystic kidney dysplasia, Nail dysplasia, Narrow sacroiliac notch, Nephroblastoma, Neurological speech impairment, Omphalocele, Pancreatic islet-cell hyperplasia, Patent ductus arteriosus, Pectus excavatum, Polyhydramnios, Polysplenia, Postaxial hand polydactyly, Posterior helix pit, Preauricular pit, Preauricular skin tag, Prolonged QT interval, Pulmonic stenosis, Renal cyst, Scoliosis, Short 2nd finger, Short distal phalanx of finger, Short foot, Short neck, Short nose, Short palm, Short sacroiliac notch, Short toe, Six lumbar vertebrae, Small nail, Somatic mutation, Splenomegaly, Submucous cleft lip, Supernumerary nipple, Talipes equinovarus, Tall stature, Toe syndactyly, Transposition of the great arteries, Two carpal ossification centers present at birth, Umbilical hernia, Ureteral duplication, Ventricular septal defect, Vertebral fusion, Vertebral segmentation defect, Webbed neck, Wide mouth, Wide nasal bridge, X-linked recessive inheritance
RG-div1	RP11.366L20.2	1.116216789	0			
RG-div1	ILK	1.115167268	0	Serine/threonine kinase	BrainSpLMD|3611	OMIM|602366
RG-div1	MGME1	1.114205176	0	Unclassified	BrainSpLMD|92667	OMIM|615076;HPO|92667|Autosomal recessive inheritance, Dysphonia, Dyspnea, Easy fatigability, Elevated serum creatine phosphokinase, Exercise intolerance, Facial palsy, Generalized amyotrophy, Hypergonadotropic hypogonadism, Hyporeflexia, Kyphosis, Nasal speech, Progressive, Progressive external ophthalmoplegia, Proximal amyotrophy, Ptosis, Recurrent infections, Respiratory insufficiency, Spinal deformities, Spinal rigidity
RG-div1	MAST4	1.106469541	0	Unclassified	BrainSpLMD|375449;Eurexp|euxassay_011099|mantle layer, marginal layer, thymus primordium, ventral grey horn	
RG-div1	GCA	1.103394085	0	Calcium binding protein	BrainSpLMD|25801;Eurexp|euxassay_012524|ventricular layer	OMIM|607030
RG-div1	ELOVL2	1.102909484	0	Unclassified	BrainSpLMD|54898;Eurexp|euxassay_006217|adenohypophysis, brain, calyces, cervical, cervico-thoracic, left, olfactory, right, spinal cord, thoracic, thyroid	OMIM|611814
RG-div1	MZT1	1.100260769	0	Unclassified		OMIM|613448
RG-div1	TGIF2	1.099979318	0	Transcription factor	BrainSpLMD|60436;Eurexp|euxassay_019508|axial skeleton, cornea, epithelium, incisor, lung, marginal layer, metanephros, molar, neural retina, oesophagus, olfactory, phalanx, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|86790	OMIM|607294
RG-div1	ZFP36L2	1.098819845	0	Transcription factor	BrainSpLMD|678	OMIM|612053
RG-div1	MTHFD2	1.094195593	0	Enzyme: Dehydrogenase	BrainSpLMD|10797	OMIM|604887
RG-div1	VSIG10	1.09042921	0	Unclassified	BrainSpLMD|54621	
RG-div1	TMEM67	1.089253768	0	Unclassified	BrainSpLMD|91147	OMIM|609884;HPO|91147|Anemia, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Blindness, Breathing dysregulation, Cataract, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cirrhosis, Cleft palate, Coloboma, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Elevated hepatic transaminases, Elongated superior cerebellar peduncle, Encephalocele, Enlarged fossa interpeduncularis, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Heterogeneous, Hyperreflexia, Hypertelorism, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intrahepatic biliary atresia, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Multiple small medullary renal cysts, Muscular hypotonia, Nephronophthisis, Nephropathy, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic nerve coloboma, Polydactyly, Polydipsia, Polyuria, Portal hypertension, Postaxial foot polydactyly, Postaxial hand polydactyly, Ptosis, Renal corticomedullary cysts, Renal insufficiency, Retinal degeneration, Round face, Sclerocornea, Sloping forehead, Spasticity, Splenomegaly, Stage 5 chronic kidney disease, Talipes, Thickened superior cerebellar peduncle, Tubular atrophy, Tubular basement membrane disintegration, Visual impairment, Wide mouth
RG-div1	DENND1A	1.089241771	0	Unclassified	BrainSpLMD|57706	OMIM|613633
RG-div1	CDO1	1.086177359	0	Enzyme: Oxidoreductase	BrainSpLMD|1036	OMIM|603943
RG-div1	PALLD	1.08382109	0	Unclassified	BrainSpLMD|23022	OMIM|608092
RG-div1	TRIM59	1.082186816	0	Ubiquitin proteasome system protein		OMIM|616148
RG-div1	BUB3	1.078904295	0	Cell cycle control protein	BrainSpLMD|9184;Eurexp|euxassay_004484|hindbrain, lateral wall, mantle layer, saccule, utricle	OMIM|603719;HPO|9184|Abnormality of vision, Ascites, Cataract, Corneal opacity, Dandy-Walker malformation, Epicanthus, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Polyhydramnios, Short stature, Triangular face
RG-div1	CLIC1	1.074884293	0	Intracellular ligand gated channel	BrainSpLMD|1192	OMIM|602872
RG-div1	NBPF14	1.074739111	0	Unclassified		OMIM|614003
RG-div1	PRTFDC1	1.074279585	0	Unclassified	BrainSpLMD|56952	OMIM|610751
RG-div1	INTU	1.073609203	0	Unclassified	BrainSpLMD|27152	OMIM|610621
RG-div1	LIPG	1.071931678	0	Enzyme: Lipase	BrainSpLMD|9388;Eurexp|euxassay_018714|4th ventricle, incisor, larynx, lung, metanephros, midgut, molar, naris, nasal septum, olfactory, rectum, respiratory, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|603684
RG-div1	WDR41	1.071831598	0	Unclassified	BrainSpLMD|55255	OMIM|617502
RG-div1	DTYMK	1.068905304	0	Enzyme: Phosphotransferase	Eurexp|euxassay_003137|chondrocranium, incisor, molar, pancreas, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|188345
RG-div1	MNS1	1.067246188	0	Structural protein	BrainSpLMD|55329	OMIM|610766
RG-div1	C15orf41	1.067133602	0	Unclassified	BrainSpLMD|84529;Eurexp|euxassay_005181|adenohypophysis, brain, metanephros, neural retina, retina, spinal cord, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|615626;HPO|84529|Anemia of inadequate production, Anisocytosis, Autosomal recessive inheritance, Erythroid hyperplasia, Hepatomegaly, Jaundice, Pallor, Poikilocytosis, Reticulocytosis, Splenomegaly
RG-div1	FSTL1	1.065817787	0	Protease inhibitor	Eurexp|euxassay_003685|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail;BrainSpMouseDev|14090	OMIM|605547
RG-div1	RNASEH2A	1.065340658	0	Ribonuclease	BrainSpLMD|10535	OMIM|606034;HPO|10535|Arrhinencephaly, Autosomal recessive inheritance, CSF lymphocytic pleiocytosis, Cerebellar atrophy, Cerebral atrophy, Cerebral calcification, Cleft eyelid, Convex nasal ridge, Death in childhood, Dystonia, Elevated hepatic transaminases, Feeding difficulties, Hemiplegia/hemiparesis, Hepatomegaly, Hepatosplenomegaly, Hydrocephalus, Infantile onset, Intellectual disability, profound, Intrauterine growth retardation, Leukodystrophy, Low-set ears, Pancytopenia, Porencephalic cyst, Progressive microcephaly, Severe global developmental delay, Spasticity, Splenomegaly, Thrombocytopenia, Ventriculomegaly
RG-div1	POLA1	1.062464338	0	DNA polymerase	BrainSpLMD|5422	OMIM|312040;HPO|5422|Abnormality of chromosome stability, Abnormality of metabolism/homeostasis, Amyloidosis, Broad eyebrow, Colitis, Corneal scarring, Cryptorchidism, Diarrhea, Failure to thrive in infancy, Generalized reticulate brown pigmentation, Global developmental delay, Hearing impairment, Hemiplegia, Hyperkeratosis, Hypohidrosis, Hypospadias, Inguinal hernia, Intellectual disability, Leukemia, Neoplasm, Opacification of the corneal stroma, Photophobia, Recurrent infection of the gastrointestinal tract, Recurrent pneumonia, Seizures, Spasticity, Urethral stricture, Visual impairment, Visual loss, X-linked inheritance, X-linked recessive inheritance
RG-div1	HMGN2P5	1.062122083	0			
RG-div1	LIFR	1.061316824	0	Cytokine receptor	BrainSpLMD|3977;Eurexp|euxassay_010649|axial muscle, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, orbito-sphenoid, thymus primordium, thyroid, tongue, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16651	OMIM|151443;COSMIC||salivary adenoma;HPO|3977|Abnormal metaphyseal trabeculation, Abnormality of dental enamel, Abnormality of vision, Absent patellar reflexes, Adducted thumb, Apnea, Asthma, Autosomal recessive inheritance, Blotching pigmentation of the skin, Broad ischia, Camptodactyly of finger, Contracture of the proximal interphalangeal joint of the 5th finger, Dysautonomia, Dysphagia, Elbow flexion contracture, Enlarged joints, Episodic fever, Feeding difficulties, Feeding difficulties in infancy, Femoral bowing, Flared metaphysis, Flexion contracture of toe, Frontal bossing, Generalized hypotonia, Genu valgum, Hoarse voice, Hyperhidrosis, Hypohidrosis, Hypoplastic iliac body, Impaired pain sensation, Intrauterine growth retardation, Knee flexion contracture, Lacrimation abnormality, Low-set ears, Malar flattening, Metaphyseal rarefaction, Metaphyseal widening, Micrognathia, Micromelia, Midface retrusion, Myotonia, Nasal speech, Oligohydramnios, Opacification of the corneal stroma, Osteopenia, Osteoporosis, Paresthesia, Pathologic fracture, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Pursed lips, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Short neck, Short nose, Short palpebral fissure, Short phalanx of finger, Short stature, Short tibia, Single transverse palmar crease, Skeletal dysplasia, Smooth tongue, Square face, Talipes, Talipes equinovarus, Talipes valgus, Thickened cortex of long bones, Thin ribs, Thin skin, Tibial bowing, Trismus, Ulnar deviation of finger, Wide nasal base
RG-div1	CELSR1	1.057247412	0	G protein coupled receptor	BrainSpLMD|9620;BrainSpMouseDev|12399	OMIM|604523
RG-div1	FANCB	1.057103374	0	Unclassified	BrainSpLMD|2187	OMIM|300515;HPO|2187|Abnormal vertebral morphology, Abnormality of cardiovascular system morphology, Abnormality of chromosome stability, Abnormality of the optic nerve, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anal atresia, Anemia, Aplasia/Hypoplasia of the radius, Aqueductal stenosis, Atrioventricular canal defect, Enlarged kidney, Esophageal atresia, Global developmental delay, Growth delay, Hand polydactyly, Hemivertebrae, Hydrocephalus, Hydronephrosis, Hypopigmented skin patches, Hypoplasia of the radius, Intellectual disability, Intrauterine growth retardation, Irregular hyperpigmentation, Leukopenia, Low-set ears, Microcephaly, Microcornea, Phenotypic variability, Polyhydramnios, Proximal placement of thumb, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Scoliosis, Short humerus, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula, Transposition of the great arteries, Urethral atresia, Ventriculomegaly, X-linked recessive inheritance
RG-div1	CTD.2544H17.1	1.054456861	0			
RG-div1	RCC1	1.053839386	0	Guanine nucleotide exchange factor	BrainSpLMD|1104;Eurexp|euxassay_000016|lateral wall, liver, lung, mandible, mantle layer, marginal layer, metanephros, palatal shelf, submandibular gland primordium, thymus primordium, trigeminal V, ventricular layer, vibrissa	OMIM|179710
RG-div1	CNN3	1.053749452	0	Cytoskeletal associated protein	BrainSpLMD|1266;Eurexp|euxassay_009765|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|602374
RG-div1	CEP57L1	1.052139685	0	Unclassified	BrainSpLMD|285753	
RG-div1	DHTKD1	1.050723094	0	Enzyme: Oxidoreductase	BrainSpLMD|55526	OMIM|614984;HPO|55526|Aminoaciduria, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Delayed speech and language development, Difficulty walking, Generalized hypotonia, Global developmental delay, Intellectual disability, mild, Microcephaly, Phenotypic variability, Skeletal muscle atrophy
RG-div1	PRDM16	1.049169349	0	Transcription factor	BrainSpLMD|63976	OMIM|605557;COSMIC||MDS, AML;HPO|63976|Abnormal morphology of the left ventricle, Absent speech, Agenesis of corpus callosum, Autism, Autosomal dominant inheritance, Brachycephaly, Brachydactyly, Camptodactyly of finger, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Congestive heart failure, Constipation, Deeply set eye, Delayed cranial suture closure, Depressed nasal bridge, Depressed nasal ridge, Dilated cardiomyopathy, Dysphagia, EEG abnormality, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Gait disturbance, Gastroesophageal reflux, Global developmental delay, High-grade hypermetropia, Horizontal eyebrow, Intellectual disability, Left ventricular noncompaction, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Midface retrusion, Muscular hypotonia, Narrow mouth, Pointed chin, Poor speech, Seizures, Self-injurious behavior, Short foot, Stereotypy, Strabismus, Ventriculomegaly, Wide nasal bridge
RG-div1	DNA2	1.048166826	0	DNA helicase		OMIM|601810;HPO|1763|Autosomal dominant inheritance, Autosomal recessive inheritance, Convex nasal ridge, Ectopic kidney, Elevated serum creatine phosphokinase, Exercise intolerance, Exertional dyspnea, Facial palsy, Gait disturbance, Generalized amyotrophy, Global developmental delay, Gowers sign, Intellectual disability, Kyphoscoliosis, Limb-girdle muscle weakness, Microcephaly, Micrognathia, Muscle cramps, Myalgia, Progressive external ophthalmoplegia, Ptosis, Short stature, Slender build, Slow progression, Spinal cord compression
RG-div1	SOX2	1.047575615	0	Transcription factor	Eurexp|euxassay_019525|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lung, mantle layer, medulla, midgut, neural retina, oesophagus, olfactory, oral epithelium, pituitary, saccule, stomach, testis, trachea, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|20436	OMIM|184429;COSMIC||NSCLC, oesophageal squamous carcinoma, Microphthalmia and oesophageal atresia syndrome;HPO|6657|Agenesis of corpus callosum, Anophthalmia, Anterior pituitary hypoplasia, Autosomal dominant inheritance, Butterfly vertebrae, Cleft palate, Coloboma, Cryptorchidism, Esophageal atresia, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hemivertebrae, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypospadias, Hypothalamic hamartoma, Microcephaly, Micropenis, Microphthalmia, Missing ribs, Nystagmus, Optic nerve hypoplasia, Patent ductus arteriosus, Postnatal growth retardation, Rib fusion, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Short stature, Spastic diplegia, Spastic tetraplegia, Specific learning disability, Strabismus, Supernumerary ribs, Tracheoesophageal fistula, Ventricular septal defect, Vertebral fusion, Vertebral hypoplasia, Visual impairment, Visual loss
RG-div1	GINS2	1.047538854	0	Unclassified	BrainSpLMD|51659	OMIM|610609
RG-div1	BMP7	1.046416809	0	Ligand	BrainSpLMD|655;BrainSpMouseDev|11948	OMIM|112267
RG-div1	RCN1	1.045900852	0	Calcium binding protein	BrainSpLMD|5954;Eurexp|euxassay_006169|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, peripheral nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|19435	OMIM|602735
RG-div1	TMEM107	1.043509124	0	Unclassified	BrainSpLMD|84314;Eurexp|euxassay_005337|choroid plexus, lateral recess, olfactory, pharynx, respiratory	OMIM|616183;HPO|84314|Aplasia/Hypoplasia of the iris, Cataract, Chorioretinal abnormality, Cleft palate, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Encephalocele, Full cheeks, Hypertelorism, Lobar holoprosencephaly, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Oligohydramnios, Optic atrophy, Postaxial foot polydactyly, Postaxial hand polydactyly, Sclerocornea, Sloping forehead, Talipes
RG-div1	CEP112	1.043277603	0	Unclassified	BrainSpLMD|201134	
RG-div1	DDX12P	1.042130432	0	-		OMIM|601151
RG-div1	MYADM	1.041731256	0	Unclassified	BrainSpLMD|91663;Eurexp|euxassay_004288|femur, footplate, forelimb, hindlimb, mesenchyme, tail	OMIM|609959
RG-div1	DMRTA2	1.039443586	0	Transcription factor		OMIM|614804
RG-div1	AHI1	1.037657194	0	Adapter molecule	BrainSpLMD|54806;Eurexp|euxassay_005590|brain, cervical, cervico-thoracic, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V;BrainSpMouseDev|32386	SFARI||Autism, No category;OMIM|608894;HPO|54806|Abnormal electroretinogram, Anteverted nares, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Central apnea, Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Enlarged fossa interpeduncularis, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Heterogeneous, Highly arched eyebrow, Intellectual disability, Long face, Low-set ears, Molar tooth sign on MRI, Motor delay, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nystagmus, Oculomotor apraxia, Open mouth, Pigmentary retinopathy, Ptosis, Retinal dystrophy, Stage 5 chronic kidney disease, Visual impairment, Wide nasal bridge
RG-div1	NOSTRIN	1.037223911	0	Unclassified	BrainSpLMD|115677	OMIM|607496
RG-div1	CKAP5	1.037212533	0	Cytoskeletal associated protein	BrainSpLMD|9793;Eurexp|euxassay_011048|cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, molar, olfactory, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|611142
RG-div1	GPR98	1.036064666	0			
RG-div1	RBL1	1.033469451	0	Cell cycle control protein	BrainSpLMD|5933	OMIM|116957
RG-div1	AASS	1.031092995	0	Enzyme: Oxidoreductase;Enzyme: Synthase	BrainSpLMD|10157	OMIM|605113;HPO|10157|Abnormality of the genitourinary system, Anemia, Autosomal recessive inheritance, Cognitive impairment, Delayed speech and language development, EEG abnormality, Ectopia lentis, Histidinuria, Hyperactivity, Hyperlysinemia, Hyperlysinuria, Infantile onset, Intellectual disability, Intellectual disability, mild, Muscular hypotonia, Phenotypic variability, Seizures, Short attention span, Short stature, Spastic diplegia
RG-div1	MYBL1	1.030389703	0	Transcription regulatory protein	Eurexp|euxassay_019606|adrenal gland, neural retina, olfactory, testis, ventricular layer, vomeronasal organ;BrainSpMouseDev|17631	OMIM|159405
RG-div1	PSME2	1.027330782	0	Ubiquitin proteasome system protein	BrainSpLMD|5721;Eurexp|euxassay_007332|thymus primordium	OMIM|602161
RG-div1	ANXA5	1.026485241	0	Calcium binding protein	BrainSpLMD|308;Eurexp|euxassay_002158|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, meninges, renal/urinary system, reproductive system, respiratory system, tail	OMIM|131230
RG-div1	RFC5	1.024439264	0	DNA binding protein	BrainSpLMD|5985	OMIM|600407
RG-div1	DUSP10	1.022957819	0	Enzyme: Phosphatase;Enzyme: Phosphohydrolase	BrainSpLMD|11221	OMIM|608867
RG-div1	CEP85	1.017508727	0	Unclassified	BrainSpLMD|64793	
RG-div1	TJP1	1.015425021	0	Cell junction protein	BrainSpLMD|7082;Eurexp|euxassay_018809|brain, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, left lung, meninges, metanephros, right lung, spinal cord, trigeminal V	OMIM|601009
RG-div1	NCAPD3	1.015290921	0	Unclassified	BrainSpLMD|23310	OMIM|609276
RG-div1	LRIG1	1.012922221	0	Cell surface receptor	BrainSpLMD|26018	OMIM|608868
RG-div1	TCF7L1	1.010109025	0	Transcription regulatory protein	BrainSpLMD|83439;BrainSpMouseDev|21176	OMIM|604652
RG-div1	MMS22L	1.009777913	0	Unclassified	BrainSpLMD|253714	OMIM|615614
RG-div1	HMGN2P3	1.005452632	0			
RG-div1	CCDC181	1.004762367	0	Unclassified	BrainSpLMD|57821;Eurexp|euxassay_004163|3rd ventricle, 4th ventricle, choroid invagination	
RG-div1	TUBG1	1.003384478	0	Cytoskeletal protein	BrainSpLMD|7283	OMIM|191135;HPO|7283|Autosomal dominant inheritance, Cortical dysplasia, Global developmental delay, Microcephaly, Seizures, Variable expressivity
RG-div1	UHRF1	0.999750817	0	DNA binding protein	BrainSpLMD|29128	OMIM|607990
RG-div1	RPA1	0.999587243	0	DNA binding protein	BrainSpLMD|6117;Eurexp|euxassay_008207|ventricular layer	OMIM|179835
RG-div1	PAWR	0.995381084	0	Transcription regulatory protein	BrainSpLMD|5074;Eurexp|euxassay_014184|bladder, floor plate, floorplate, left lung, neural retina, olfactory, right lung, submandibular gland primordium, urethra, ventricular layer;BrainSpMouseDev|77498	OMIM|601936
RG-div1	PCNA	0.994517401	0	Cell cycle control protein	BrainSpLMD|5111;Eurexp|euxassay_005732|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, spinal cord, ventricular layer	OMIM|176740;HPO|5111|Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Conjunctival telangiectasia, Cutaneous photosensitivity, Dysarthria, Dysphagia, Global developmental delay, Muscle weakness, Neurodegeneration, Pes cavus, Photophobia, Progressive, Progressive muscle weakness, Short stature, Unsteady gait
RG-div1	HMGN2	0.994289489	0	Transcription regulatory protein	BrainSpLMD|3151;Eurexp|euxassay_007442|embryo;BrainSpMouseDev|15106	OMIM|163910
RG-div1	ADAM9	0.993487697	0	Metallo protease	BrainSpLMD|8754	OMIM|602713;HPO|8754|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal recessive inheritance, Cone/cone-rod dystrophy, Nyctalopia, Photophobia, Visual impairment
RG-div1	TMPO	0.991208453	0	Peptide hormone	BrainSpLMD|7112	OMIM|188380;HPO|7112|Autosomal dominant inheritance, Dilated cardiomyopathy, Reduced systolic function
RG-div1	HEY1	0.990363187	0	Transcription factor	BrainSpLMD|23462;Eurexp|euxassay_005307|calyces, mandible, maxilla, olfactory, orbito-sphenoid, pituitary, respiratory, thymus primordium, ventricular layer;BrainSpMouseDev|14989	OMIM|602953;COSMIC||mesenchymal chondrosarcoma
RG-div1	EMX2	0.989745194	0	Transcription factor	BrainSpLMD|2018;Eurexp|euxassay_019479|eyelid, lip, mantle layer, metanephros, olfactory, paramesonephric duct, phalanx, saccule, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|13575	OMIM|600035;HPO|2018|Schizencephaly
RG-div1	NOTCH1	0.988812267	0	Cell surface receptor	BrainSpLMD|4851;Eurexp|euxassay_018738|cochlea, cornea, cortex, epidermis, epithelium, incisor, left lung, molar, olfactory, rest of skin, retina, right lung, submandibular gland primordium, thymus primordium, utricle, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|17895	OMIM|190198;COSMIC||T-ALL, breast, bladder, skin SCC, lung SCC, head and neck SCC;HPO|4851|Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis, Aplasia cutis congenita, Autosomal dominant inheritance, Bicuspid aortic valve, Brachydactyly, Calvarial skull defect, Cataract, Cavernous hemangioma, Coarctation of aorta, Cutis marmorata, Cutis marmorata telangiectatica congenita, Dilatation of the aortic arch, Dystrophic toenail, Failure to thrive, Finger syndactyly, Heart murmur, Hydrocephalus, Hypertension, Microphthalmia, Phenotypic variability, Pulmonary arterial hypertension, Pulmonary artery atresia, Pulmonic stenosis, Right ventricular hypertrophy, Short distal phalanx of finger, Sparse hair, Split hand, Strabismus, Syndactyly, Talipes, Tetralogy of Fallot, Thoracic aorta calcification
RG-div1	PDPN	0.987379653	0	Water channel	BrainSpLMD|10630;Eurexp|euxassay_002001|axial skeleton, submandibular gland primordium, ventricular layer;BrainSpMouseDev|14502	OMIM|608863
RG-div1	NSUN7	0.98721097	0	Unclassified	BrainSpLMD|79730;Eurexp|euxassay_008472|choroid invagination, choroid plexus, male, olfactory, roof plate	OMIM|617185
RG-div1	PKM	0.985455849	0	Enzyme: Phosphotransferase	BrainSpLMD|5315	OMIM|179050
RG-div1	SWAP70	0.983850495	0	Guanine nucleotide exchange factor	BrainSpLMD|23075	OMIM|604762
RG-div1	10-Sep	0.982979282	0			
RG-div1	CEP192	0.981328042	0	Cytoskeletal protein	BrainSpLMD|55125	OMIM|616426
RG-div1	PTN	0.978910367	0	Cytokine	BrainSpLMD|5764	OMIM|162095
RG-div1	PELI2	0.978514315	0	Unclassified	BrainSpLMD|57161;Eurexp|euxassay_014344|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|614798
RG-div1	KCTD9	0.978495881	0	Ion channel	BrainSpLMD|54793;BrainSpMouseDev|69605	OMIM|617265
RG-div1	CDC27	0.971153014	0	Cell cycle control protein	BrainSpLMD|996	OMIM|116946
RG-div1	EEF1D	0.967952893	0	Guanine nucleotide exchange factor	BrainSpLMD|1936	OMIM|130592
RG-div1	SPDL1	0.96341443	0	Unclassified	BrainSpLMD|54908;Eurexp|euxassay_003300|axial muscle, glomeruli, incisor, left, mantle layer, marginal layer, molar, pancreas, right, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|616401
RG-div1	CARD8	0.96120133	0	Adapter molecule	BrainSpLMD|22900	OMIM|609051
RG-div1	C18orf54	0.958001679	0	Unclassified		OMIM|613258
RG-div1	PLEKHG1	0.957204969	0	Unclassified	BrainSpMouseDev|84601	
RG-div1	SLITRK2	0.948564883	0	Integral membrane protein	BrainSpLMD|84631;Eurexp|euxassay_012159|dorsal root ganglion, facial VII, glossopharyngeal IX, marginal layer, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|300561
RG-div1	UTRN	0.948327739	0	Anchor protein	BrainSpLMD|7402;Eurexp|euxassay_013991|bladder, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, primitive seminiferous tubules, rectum, stomach, trigeminal V, urethra	SFARI||Autism, No category;OMIM|128240
RG-div1	ZMYM1	0.947277066	0	Unclassified	BrainSpLMD|79830	
RG-div1	JAM3	0.941238033	0	Adhesion molecule	BrainSpLMD|83700;Eurexp|euxassay_000180|cerebral cortex, chondrocranium, diaphragm, head mesenchyme, limb, mantle layer, mesenchyme, tongue, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|58180	OMIM|606871;HPO|83700|Autosomal recessive inheritance, Cataract, Congenital onset, Global developmental delay, Hepatomegaly, Hyperreflexia, Postnatal microcephaly, Seizures, Spasticity, Ventriculomegaly
RG-div1	SCRN1	0.939042305	0	Protease	BrainSpLMD|9805;Eurexp|euxassay_012592|cervical, cervico-thoracic, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, penis, thoracic, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII	OMIM|614965
RG-div1	F3	0.937822854	0	Coagulation factor	BrainSpLMD|2152;Eurexp|euxassay_009157|axial muscle, calyces, epithelium, larynx, left lung, midgut, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, pyloric region, rectum, right lung, ventricular layer, vibrissa	OMIM|134390
RG-div1	REST	0.937292101	0	Transcription regulatory protein	BrainSpLMD|5978;BrainSpMouseDev|19475	OMIM|600571;HPO|5978|Abdominal pain, Gingival fibromatosis, Gingival overgrowth, Nephroblastoma
RG-div1	ELOVL5	0.934190235	0	Unclassified	BrainSpLMD|60481	OMIM|611805;HPO|60481|Autosomal dominant inheritance, Cerebellar atrophy, Dysarthria, Gait ataxia, Limb ataxia, Nystagmus, Slow progression, Slow saccadic eye movements
RG-div1	CDK5RAP2	0.932205926	0	Cell cycle control protein	BrainSpLMD|55755	OMIM|608201;HPO|55755|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, moderate, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Small cerebral cortex, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
RG-div1	NPAS3	0.926589056	0	Transcription factor	BrainSpLMD|64067;Eurexp|euxassay_009424|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|27131	OMIM|609430
RG-div1	FOSB	0.926242274	0	Transcription factor	BrainSpLMD|2354	OMIM|164772
RG-div1	WWC2	0.925449375	0	Unclassified	BrainSpLMD|80014	
RG-div1	AC253572.1	0.920918636	0			
RG-div1	HIST1H1C	0.920307973	0	DNA binding protein	BrainSpLMD|3006;Eurexp|euxassay_015954|ventricular layer	OMIM|142710
RG-div1	WHSC1	0.919727354	0			
RG-div1	MPHOSPH9	0.919680778	0	Cell cycle control protein	BrainSpLMD|10198	OMIM|605501
RG-div1	FAM114A1	0.915780195	0	Unclassified	BrainSpLMD|92689;Eurexp|euxassay_002429|Meckel's cartilage, cranium	
RG-div1	SYNE1	0.914922246	0	Unclassified	BrainSpLMD|23345	SFARI||Autism, 4 - Minimal evidence;OMIM|608441;HPO|23345|Adult onset, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Childhood onset, Dysarthria, Dysmetria, Elevated serum creatine phosphokinase, Gait ataxia, Left ventricular septal hypertrophy, Limb ataxia, Muscular dystrophy, Neck muscle weakness, Nystagmus, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Slow progression
RG-div1	PTGFRN	0.914177182	0	Integral membrane protein	BrainSpLMD|5738;Eurexp|euxassay_007366|axial skeleton, clavicle, floor plate, floorplate, lung, mantle layer, mesenchyme, palatal shelf, penis, sternum, submandibular gland primordium, ventricular layer, vibrissa	OMIM|601204
RG-div1	GAS2L3	0.913424992	0	Cytoskeletal protein	BrainSpLMD|283431	OMIM|617224
RG-div1	CNTLN	0.91122861	0	Unclassified	BrainSpLMD|54875	OMIM|611870
RG-div1	SH3RF1	0.911125424	0	Unclassified	BrainSpLMD|57630;Eurexp|euxassay_016453|mantle layer	
RG-div1	TEX30	0.910211943	0	Unclassified	BrainSpLMD|93081;Eurexp|euxassay_007574|ventricular layer	
RG-div1	RFC1	0.909548894	0	DNA binding protein	BrainSpLMD|5981	OMIM|102579
RG-div1	SAE1	0.909375483	0	Enzyme: Ligase	BrainSpLMD|10055;Eurexp|euxassay_005976|embryo	SFARI||Autism, No category;OMIM|613294
RG-div1	DBF4	0.9024319	0	Cell cycle control protein	BrainSpLMD|10926;Eurexp|euxassay_012740|ventricular layer	OMIM|604281
RG-div1	LITAF	0.902209824	0	Transcription factor	BrainSpLMD|9516;Eurexp|euxassay_013657|axial skeleton, incisor, molar, submandibular gland primordium, urethra, ventricular layer, vestibular component, vibrissa	OMIM|603795;HPO|9516|Autosomal dominant inheritance, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Juvenile onset, Onion bulb formation, Pes cavus, Segmental peripheral demyelination/remyelination
RG-div1	RP11.417F21.1	0.901549423	0			
RG-div1	MAT2B	0.901171813	0	Enzyme: Adenosyltransferase	BrainSpLMD|27430;Eurexp|euxassay_000623|olfactory	OMIM|605527
RG-div1	ITGAV	0.899070402	0	Cell surface receptor	BrainSpLMD|3685;Eurexp|euxassay_009584|brain, calyces, incisor, mandible, maxilla, mesenchyme, midgut, molar, spinal cord, stomach, submandibular gland primordium, ventricular layer;BrainSpMouseDev|16183	OMIM|193210;COSMIC||large intestine carcinoma
RG-div1	DUSP3	0.898765243	0	Dual specificity phosphatase	BrainSpLMD|1845;Eurexp|euxassay_001212|glossopharyngeal IX, vagus X	OMIM|600183
RG-div1	SKP2	0.898054024	0	Ubiquitin proteasome system protein	BrainSpLMD|6502	OMIM|601436
RG-div1	NUP107	0.897664758	0	Transport/cargo protein	BrainSpLMD|57122	OMIM|607617;HPO|57122|Aplasia/Hypoplasia of the breasts, Aplasia/hypoplasia of the uterus, Autosomal recessive inheritance, Decreased fertility, Decreased serum estradiol, Delayed puberty, Delayed skeletal maturation, Gonadal dysgenesis, Hypoalbuminemia, Increased circulating gonadotropin level, Minimal change glomerulonephritis, Nephrotic syndrome, Osteopenia, Osteoporosis of vertebrae, Premature ovarian insufficiency, Primary amenorrhea, Progressive, Proteinuria, Sparse pubic hair, Stage 5 chronic kidney disease, Streak ovary, Variable expressivity
RG-div1	AP001172.2	0.897280806	0			
RG-div1	NFIC	0.897084227	0	Transcription factor	BrainSpLMD|4782;Eurexp|euxassay_008959|mesenchyme;BrainSpMouseDev|17796	OMIM|600729
RG-div1	NEDD1	0.895743076	0	Unclassified	BrainSpLMD|121441;Eurexp|euxassay_017529|ventricular layer	OMIM|600372
RG-div1	PPM1K	0.892060116	0	Serine/threonine phosphatase	BrainSpLMD|152926	OMIM|611065;HPO|152926|Elevated plasma branched chain amino acids
RG-div1	ITGB3BP	0.891593655	0	Transcription regulatory protein	BrainSpLMD|23421	OMIM|605494
RG-div1	ASPH	0.890216786	0	Enzyme: Hydroxylase	BrainSpLMD|444	OMIM|600582;HPO|444|Abnormal facial shape, Autosomal recessive inheritance, Convex nasal ridge, Dental malocclusion, Downslanted palpebral fissures, Ectopia lentis, Iris atrophy, Large beaked nose, Prominent nose, Retrognathia
RG-div1	STAG2	0.888421628	0	Cell cycle control protein	BrainSpLMD|10735;Eurexp|euxassay_016892|ventricular layer	OMIM|300826;COSMIC||bladder carcinoma, glioblastoma, melanoma, Ewing's sarcoma, myeloid neoplasms
RG-div1	CKB	0.885477785	0	Enzyme: Phosphotransferase	BrainSpLMD|1152;Eurexp|euxassay_011493|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lung, mandible, mantle layer, maxilla, midgut, neural retina, oesophagus, olfactory, rectum, sternum, stomach, trigeminal V, ventral grey horn, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ, wall	OMIM|123280
RG-div1	SLC25A37	0.884051987	0	Transport/cargo protein	BrainSpLMD|51312;Eurexp|euxassay_007768|liver, mesenchyme	OMIM|610387
RG-div1	RAD21	0.881581948	0	DNA binding protein	BrainSpLMD|5885	OMIM|606462;COSMIC||AML, endometrium, colorectal, lung, Cornelia de Lange syndrome-4;HPO|5885|Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Clinodactyly of the 5th finger, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downturned corners of mouth, Elbow dislocation, Exostoses, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phenotypic variability, Phthisis bulbi, Premature birth, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Smooth philtrum, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Vesicoureteral reflux, Wide nasal bridge, Widely spaced teeth
RG-div1	IFT74	0.881285794	0	Unclassified	BrainSpLMD|80173;Eurexp|euxassay_011501|olfactory	OMIM|608040;HPO|80173|Autosomal recessive inheritance, Hypogonadism, Intellectual disability, Microcephaly, Obesity, Polydactyly, Rod-cone dystrophy
RG-div1	RBBP8	0.8796157	0	Transcription regulatory protein	BrainSpLMD|5932	OMIM|604124;HPO|5932|4-5 toe syndactyly, Abnormality of dental enamel, Absent earlobe, Absent fourth finger distal interphalangeal crease, Aggressive behavior, Autosomal recessive inheritance, Cachexia, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital microcephaly, Convex nasal ridge, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Few cafe-au-lait spots, Glaucoma, Growth delay, Hallux valgus, Heart murmur, Hip dysplasia, Hypospadias, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Microdontia, Microglossia, Micrognathia, Microphthalmia, Mild global developmental delay, Narrow face, Narrow forehead, Prematurely aged appearance, Prominent nose, Reduced number of teeth, Retrognathia, Sandal gap, Short middle phalanx of the 5th finger, Short stature, Single interphalangeal crease of fifth finger, Small for gestational age, Sparse scalp hair, Thoracic scoliosis
RG-div1	NBPF10	0.879451802	0			OMIM|614000
RG-div1	SLC35F1	0.878959075	0	Integral membrane protein	Eurexp|euxassay_019705|dorsal root ganglion, embryo, glossopharyngeal IX, intermediate grey horn, mantle layer, rest of cerebellum, trigeminal V, ventral grey horn, ventricular layer	
RG-div1	AMOTL2	0.876938498	0	Unclassified	BrainSpLMD|51421;Eurexp|euxassay_012626|axial skeleton, ventricular layer	OMIM|614658
RG-div1	HIRIP3	0.873305845	0	Unclassified	BrainSpLMD|8479	OMIM|603365
RG-div1	NFE2L2	0.871937802	0	Transcription factor	BrainSpLMD|4780;Eurexp|euxassay_018087|larynx, midgut, rectum, stomach, submandibular gland primordium, thyroid, trachea;BrainSpMouseDev|17791	OMIM|600492;COSMIC||NSCLC, HNSCC
RG-div1	HIST1H3B	0.870205502	0	DNA binding protein	BrainSpLMD|8358	OMIM|602819;COSMIC||glioma
RG-div1	DENND5A	0.866238257	0	Unclassified	BrainSpLMD|23258	OMIM|617278
RG-div1	FOXRED2	0.864322273	0	Enzyme: Oxidoreductase	BrainSpLMD|80020	OMIM|613777
RG-div1	LHX2	0.863317538	0	Transcription regulatory protein	BrainSpLMD|9355;BrainSpMouseDev|16641	OMIM|603759
RG-div1	CEP83	0.861512243	0	Unclassified	BrainSpLMD|51134;Eurexp|euxassay_005968|brain, cervical, cervico-thoracic, cochlea, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, lip, olfactory, oral epithelium, oral region, palatal shelf, spinal cord, submandibular gland primordium, thoracic, thymus primordium, tongue, trigeminal V, utricle, vagus X, vestibulocochlear VIII	OMIM|615847;HPO|51134|Autosomal recessive inheritance, Nephronophthisis, Stage 5 chronic kidney disease, Thickening of the glomerular basement membrane, Tubular atrophy, Tubulointerstitial nephritis
RG-div1	H2AFZ	0.846874266	0	DNA binding protein	BrainSpLMD|3015	OMIM|142763
RG-div1	RAI14	0.845681947	0	Unclassified	BrainSpLMD|26064;Eurexp|euxassay_015953|axial muscle, clavicle, floor plate, floorplate, incisor, lung, mandible, maxilla, metanephros, orbito-sphenoid, palatal shelf, penis, physiological umbilical hernia, rib, roof plate, turbinate, ventricular layer	OMIM|606586
RG-div1	H2AFV	0.844031658	0	DNA binding protein	BrainSpLMD|94239;Eurexp|euxassay_010704|metanephros, ventricular layer	
RG-div1	DDX39A	0.843909698	0	RNA helicase	BrainSpLMD|10212	
RG-div1	NR1D2	0.843771291	0	Nuclear receptor	BrainSpLMD|9975;BrainSpMouseDev|110666	OMIM|602304
RG-div1	NRG1	0.843171876	0	Growth factor	BrainSpLMD|3084;Eurexp|euxassay_007625|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, testis, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|84285	SFARI||Autism, 5 - Hypothesized but untested;OMIM|142445;COSMIC||NSCLC
RG-div1	RP3.418C23.2	0.842942166	0			
RG-div1	CDCA7	0.840357902	0	Cell cycle control protein	BrainSpLMD|83879	OMIM|609937;HPO|83879|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Conductive hearing impairment, Cryptorchidism, Decreased antibody level in blood, Depressed nasal bridge, Flat face, Global developmental delay, Hypertelorism, Hypoplastic ischia, Hypospadias, Intellectual disability, Intrauterine growth retardation, Low-set ears, Lymphopenia, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Polydactyly, Recurrent respiratory infections, Short nose, Short stature, Strabismus
RG-div1	FKRP	0.839896359	0	Unclassified	BrainSpLMD|79147	OMIM|606596;HPO|79147|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Abnormality of the cerebral white matter, Abnormality of the voice, Absent septum pellucidum, Achilles tendon contracture, Agenesis of corpus callosum, Anal atresia, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Atresia of the external auditory canal, Autosomal recessive inheritance, Blindness, Buphthalmos, Calf muscle hypertrophy, Cataract, Cerebellar atrophy, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Chorioretinal dysplasia, Cleft palate, Cleft upper lip, Cognitive impairment, Coloboma, Congenital contracture, Congenital muscular dystrophy, Congenital onset, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Death in childhood, Delayed gross motor development, Difficulty climbing stairs, Difficulty walking, Dilated cardiomyopathy, EEG abnormality, EMG abnormality, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Excessive daytime sleepiness, Facial palsy, Feeding difficulties in infancy, Frequent falls, Gait disturbance, Generalized muscle weakness, Glaucoma, Global developmental delay, Heterogeneous, Hydrocephalus, Hyperlordosis, Hypertonia, Hypoplasia of penis, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Hypoplastic male external genitalia, Hyporeflexia, Intellectual disability, Intellectual disability, profound, Intellectual disability, severe, Kyphosis, Left ventricular failure, Left ventricular hypertrophy, Lissencephaly, Macrocephaly, Macroglossia, Macrogyria, Megalocornea, Meningoencephalocele, Metatarsus valgus, Microcephaly, Microphthalmia, Microtia, Motor delay, Muscle cramps, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Myalgia, Myopathy, Myopia, Neonatal hypotonia, Neurological speech impairment, Nocturnal hypoventilation, Occipital encephalocele, Optic atrophy, Optic nerve hypoplasia, Pachygyria, Pelvic girdle muscle weakness, Peters anomaly, Phenotypic variability, Polymicrogyria, Posterior fossa cyst, Proximal amyotrophy, Proximal muscle weakness, Renal dysplasia, Respiratory insufficiency, Restrictive deficit on pulmonary function testing, Retinal atrophy, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Scoliosis, Seizures, Severe muscular hypotonia, Shoulder girdle muscle atrophy, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Specific learning disability, Strabismus, Thick cerebral cortex, Thigh hypertrophy, Toe walking, Type II lissencephaly, Variable expressivity, Vertebral fusion, Visual impairment, Waddling gait
RG-div1	LINC01224	0.838256063	0			
RG-div1	DEK	0.838143144	0	DNA binding protein	BrainSpLMD|7913	OMIM|125264;COSMIC||AML
RG-div1	TAF8	0.837883302	0	Transcription factor	BrainSpLMD|129685	OMIM|609514
RG-div1	ARL6IP1	0.837290472	0	Membrane transport protein	BrainSpLMD|23204	OMIM|607669;HPO|23204|Absent Achilles reflex, Autosomal recessive inheritance, Difficulty walking, Hyperactive patellar reflex, Inability to walk, Scissor gait, Sensory neuropathy, Spastic paraplegia
RG-div1	SLC3A2	0.835593949	0	Membrane transport protein	BrainSpLMD|6520;Eurexp|euxassay_007752|incisor, liver, mantle layer, meninges, midgut, molar, submandibular gland primordium, thymus primordium, vibrissa	OMIM|158070
RG-div1	PEA15	0.83449494	0	Transport/cargo protein	BrainSpLMD|8682;Eurexp|euxassay_011580|neural retina, ventral grey horn, ventricular layer	OMIM|603434
RG-div1	AC120042.1	0.83243475	0			
RG-div1	BICC1	0.831980574	0	RNA binding protein	BrainSpLMD|80114	OMIM|614295
RG-div1	MED14	0.830430729	0	Transcription regulatory protein	BrainSpLMD|9282;Eurexp|euxassay_019541|clavicle, incisor, lung, molar, oesophagus, olfactory, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, valve, vertebral axis muscle system, vibrissa	OMIM|300182
RG-div1	HAT1	0.829712754	0	Enzyme: Acyltransferase	BrainSpLMD|8520;Eurexp|euxassay_015562|brain, cerebral cortex, diencephalon, forebrain, hindbrain, liver, lung, medullary region, midbrain, optic II, optic stalk, telencephalon, testis, thymus primordium	OMIM|603053
RG-div1	GNG5	0.829037757	0	G protein	BrainSpLMD|2787;Eurexp|euxassay_007798|embryo	OMIM|600874
RG-div1	FABP5	0.828523039	0	Transport/cargo protein	Eurexp|euxassay_002194|axial skeleton, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lobe, molar, naris, thoracic, thymus primordium, trigeminal V, vagus X, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|605168
RG-div1	ANXA2	0.828076523	0	Calcium binding protein	BrainSpLMD|302;Eurexp|euxassay_013682|basal plate, mantle layer, ventral grey horn;BrainSpMouseDev|12091	OMIM|151740
RG-div1	DNAJC9	0.826571478	0	Chaperone	BrainSpLMD|23234;Eurexp|euxassay_001729|ventricular layer	OMIM|611206
RG-div1	SMC1A	0.826358645	0	Cell cycle control protein	BrainSpLMD|8243	SFARI||Autism, No category;OMIM|300040;COSMIC||AML, Cornelia de Lange syndrome;HPO|8243|Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Brachydactyly, Clinodactyly, Clinodactyly of the 5th finger, Cognitive impairment, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downslanted palpebral fissures, Downturned corners of mouth, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hirsutism, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Limited elbow movement, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Narrow forehead, Neurological speech impairment, Obsessive-compulsive behavior, Phthisis bulbi, Poor speech, Premature birth, Prominent nasal bridge, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Smooth philtrum, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Ventriculomegaly, Vesicoureteral reflux, Widely spaced teeth, X-linked dominant inheritance, X-linked recessive inheritance
RG-div1	CASP3	0.824628225	0	Cysteine protease	BrainSpLMD|836;Eurexp|euxassay_018739|mantle layer, olfactory, vomeronasal organ;BrainSpMouseDev|12152	OMIM|600636
RG-div1	SPIDR	0.824581541	0	Unclassified		OMIM|615384;HPO|23514|Aplasia/Hypoplasia of the breasts, Aplasia/hypoplasia of the uterus, Decreased fertility, Decreased serum estradiol, Delayed puberty, Delayed skeletal maturation, Gonadal dysgenesis, Increased circulating gonadotropin level, Osteopenia, Osteoporosis of vertebrae, Premature ovarian insufficiency, Primary amenorrhea, Sparse pubic hair, Streak ovary
RG-div1	IARS	0.824223249	0	Enzyme: Ligase	BrainSpLMD|3376;Eurexp|euxassay_001939|Meckel's cartilage, cervical, cervico-thoracic, cortex, dorsal root ganglion, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	OMIM|600709;HPO|3376|Autosomal recessive inheritance, Congenital onset, Failure to thrive, Generalized hypotonia, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Microcephaly, Postnatal growth retardation, Variable expressivity
RG-div1	RPA2	0.822650929	0	DNA binding protein	BrainSpLMD|6118;Eurexp|euxassay_004500|marginal layer, ventricular layer	OMIM|179836
RG-div1	SOAT1	0.821854538	0	Enzyme: Acyltransferase	BrainSpLMD|6646;Eurexp|euxassay_004596|adrenal gland, calyces, loop, midgut, stomach, turbinate bones	OMIM|102642
RG-div1	PARD3	0.819430687	0	Adapter molecule	BrainSpLMD|56288;BrainSpMouseDev|60394	OMIM|606745
RG-div1	LMNB2	0.81740653	0	Structural protein	BrainSpLMD|84823	OMIM|150341;HPO|84823|Autoimmunity, Autosomal recessive inheritance, Decreased serum complement C3, Gait ataxia, Generalized amyotrophy, Global developmental delay, Hearing impairment, Intellectual disability, Lipoatrophy, Lymphocytosis, Microglossia, Myoclonus, Myopathy, Progeroid facial appearance, Progressive, Scoliosis, Seizures, Short thumb, Status epilepticus, Ventriculomegaly
RG-div1	TCF7L2	0.817058282	0	Transcription factor	BrainSpLMD|6934;Eurexp|euxassay_019472|lip, mantle layer, mesenchyme, midgut, pancreas, phalanx, skeletal muscle, sternum, stomach, trachea, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|21177	SFARI||Autism, 3 - Suggestive evidence;OMIM|602228;COSMIC||colorectal
RG-div1	FHOD3	0.816715039	0	Regulatory/other subunit	Eurexp|euxassay_000020|axial skeleton, basal columns, capsule, cardiac muscle, dermal component, duodenum, facial VII, foregut, glossopharyngeal IX, hindgut, inferior, mantle layer, medulla, medullary tubules, midgut, muscle, skeletal muscle, trigeminal V, vagus X, ventricular layer, vertebral cartilage condensation, vestibulocochlear VIII	OMIM|609691
RG-div1	AXL	0.811551314	0	Receptor tyrosine kinase	BrainSpLMD|558;Eurexp|euxassay_001756|cardiovascular system, gland, head mesenchyme, integumental system, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|26110	OMIM|109135;HPO|558|Autosomal dominant inheritance, Autosomal recessive inheritance, Cryptorchidism, Decreased testicular size, Gynecomastia, Hypogonadotrophic hypogonadism, Micropenis, Primary amenorrhea, Sparse axillary hair, Sparse pubic hair
RG-div1	VCAM1	0.810189784	0	Adhesion molecule	BrainSpLMD|7412	OMIM|192225
RG-div1	OAT	0.809947208	0	Enzyme: Aminotransferase	BrainSpLMD|4942	OMIM|613349;HPO|4942|Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Blindness, Chorioretinal atrophy, EMG abnormality, Myopia, Nyctalopia, Posterior subcapsular cataract, Proximal muscle weakness
RG-div1	MTBP	0.809889098	0	Cell junction protein	BrainSpLMD|27085;Eurexp|euxassay_005329|ventricular layer	OMIM|605927
RG-div1	TNC	0.808145995	0	Adhesion molecule	BrainSpLMD|3371;Eurexp|euxassay_009501|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, cochlea, cochlear duct, diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, fibula, handplate, humerus, lip, lung, mandible, mantle layer, maxilla, maxillary division, mesenchyme, molar, nasal septum, oesophagus, orbito-sphenoid, palatal shelf, pelvic girdle, penis, pharyngo-tympanic tube, rib, scapula, skeletal muscle, sternum, temporal bone, thymus primordium, tibia, tongue, trigeminal V, vault of skull, ventral grey horn, ventricle, ventricular layer, vibrissa;BrainSpMouseDev|21680	OMIM|187380;COSMIC||SCC, melanoma;HPO|3371|Autosomal dominant inheritance, Hearing impairment
RG-div1	RPA3	0.807069359	0	DNA binding protein	BrainSpLMD|6119	OMIM|179837
RG-div1	PCGF5	0.80666436	0	Ubiquitin proteasome system protein	BrainSpLMD|84333	OMIM|617407
RG-div1	RP11.138A9.2	0.806354294	0			
RG-div1	MYO10	0.797532661	0	Motor protein	BrainSpLMD|4651;Eurexp|euxassay_009373|mantle layer, marginal layer, thymus primordium, trigeminal V, ventricular layer	OMIM|601481
RG-div1	UQCC2	0.795491625	0	Unclassified	BrainSpLMD|84300;Eurexp|euxassay_000835|basal plate, epidermal component, facial VII, submandibular gland primordium, trigeminal V, ventricular layer	OMIM|614461;HPO|84300|Aggressive behavior, Autosomal recessive inheritance, Cryptorchidism, Depressed nasal bridge, Epicanthus, Global developmental delay, Hyperactivity, Infantile onset, Intrauterine growth retardation, Metabolic acidosis, Neonatal hypotonia, Poor speech, Postaxial polydactyly, Proximal renal tubular acidosis, Seizures, Synophrys, Upslanted palpebral fissure
RG-div1	HAUS6	0.794022458	0	Unclassified	BrainSpLMD|54801	OMIM|613433
RG-div1	IFT122	0.793833801	0	Unclassified	BrainSpLMD|55764;Eurexp|euxassay_011142|choroid plexus, dorsal root ganglion, metanephros, olfactory, pituitary, testis	OMIM|606045;HPO|55764|Abnormal diaphysis morphology, Abnormal toenail morphology, Abnormality of the abdominal wall, Abnormality of the fingernails, Abnormality of the metaphysis, Anodontia, Anteverted nares, Autosomal recessive inheritance, Bicuspid aortic valve, Brachydactyly, Broad distal phalanges of all fingers, Broad toe, Chronic kidney disease, Clinodactyly, Craniosynostosis, Dolichocephaly, Ectodermal dysplasia, Epicanthus, Everted lower lip vermilion, Fibular hypoplasia, Fine hair, Finger syndactyly, Flattened epiphysis, Frontal bossing, Full cheeks, Hepatic cysts, Hepatic failure, Hepatic fibrosis, Hepatomegaly, High, narrow palate, Hypocalcemia, Hypodontia, Hypoplasia of dental enamel, Hypotelorism, Joint hyperflexibility, Joint laxity, Malformation of the hepatic ductal plate, Microdontia, Myopia, Narrow chest, Nystagmus, Osteoporosis, Pectus excavatum, Prominent occiput, Protuberant abdomen, Radial deviation of finger, Renal magnesium wasting, Retinal dystrophy, Rhizomelia, Sagittal craniosynostosis, Scaphocephaly, Short distal phalanx of finger, Short humerus, Short nail, Short ribs, Short toe, Single transverse palmar crease, Slow-growing hair, Sparse hair, Telecanthus, Thin nail, Tubulointerstitial nephritis, Wide nasal bridge, Widely spaced teeth
RG-div1	MAGI2.AS3	0.793702427	0			
RG-div1	STXBP3	0.793444228	0	Transport/cargo protein	BrainSpLMD|6814	OMIM|608339
RG-div1	TBC1D5	0.792906701	0	Unclassified	BrainSpLMD|9779	SFARI||Autism, 4 - Minimal evidence;OMIM|615740
RG-div1	SMC5	0.791909306	0	Unclassified	BrainSpLMD|23137	OMIM|609386
RG-div1	TMEM170A	0.790413041	0	Unclassified	BrainSpLMD|124491	
RG-div1	BBX	0.784858135	0	Transcription factor	BrainSpLMD|56987;Eurexp|euxassay_001866|cortex, mantle layer, pituitary, testis, ventricular layer;BrainSpMouseDev|46349	
RG-div1	CCDC138	0.783779195	0	Unclassified	BrainSpLMD|165055	
RG-div1	BUD13	0.782446338	0	Unclassified	BrainSpLMD|84811	
RG-div1	ATAD5	0.778385552	0	DNA repair protein	BrainSpLMD|79915;Eurexp|euxassay_013782|cortex, liver, metanephros, ventricular layer	OMIM|609534
RG-div1	AKAP12	0.776663769	0	Anchor protein	BrainSpLMD|9590	OMIM|604698
RG-div1	RBBP7	0.773421788	0	Transcription regulatory protein	BrainSpLMD|5931;Eurexp|euxassay_011608|cranium, midgut, pelvis, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|300825
RG-div1	DHCR24	0.76980572	0	Enzyme: Reductase	BrainSpLMD|1718;Eurexp|euxassay_011628|adrenal gland, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lobe, lung, mantle layer, marginal layer, midgut, molar, neural retina, olfactory, pharyngo-tympanic tube, rectum, respiratory, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ	OMIM|606418;HPO|1718|Absent septum pellucidum, Agenesis of corpus callosum, Anteverted nares, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Bifid uvula, Depressed nasal bridge, Failure to thrive, Feeding difficulties, Hydrocephalus, Intellectual disability, Intrauterine growth retardation, Large earlobe, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscle stiffness, Narrow mouth, Nystagmus, Partial agenesis of the corpus callosum, Phenotypic variability, Relative macrocephaly, Retrognathia, Rigidity, Seizures, Severe short stature, Short nose, Spasticity, Status epilepticus, Strabismus, Submucous cleft hard palate, Ventriculomegaly
RG-div1	ARL13B	0.768698402	0	Unclassified;G protein	BrainSpLMD|200894	OMIM|608922;HPO|200894|Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Cerebellar vermis hypoplasia, Episodic tachypnea, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Intellectual disability, Long face, Molar tooth sign on MRI, Muscular hypotonia, Nystagmus, Obesity, Oculomotor apraxia, Optic disc pallor, Pigmentary retinopathy
RG-div1	SETD8	0.768307889	0			
RG-div1	HMGB1	0.763169986	0	DNA binding protein	BrainSpMouseDev|15064	OMIM|163905
RG-div1	DUSP16	0.762889182	0	Dual specificity phosphatase	BrainSpLMD|80824;Eurexp|euxassay_009768|ventricular layer	OMIM|607175
RG-div1	MIR16.2	0.762282083	0			
RG-div1	ADNP2	0.755674971	0	DNA binding protein	BrainSpLMD|22850;BrainSpMouseDev|88720	OMIM|617422
RG-div1	PPP1R15B	0.755437775	0	Regulatory/other subunit	BrainSpLMD|84919	OMIM|613257;HPO|84919|Abnormal vertebral morphology, Autosomal recessive inheritance, Brisk reflexes, Delayed puberty, Dysarthria, Fine hair, Gait ataxia, Hearing impairment, High pitched voice, Intellectual disability, severe, Intrauterine growth retardation, Kinetic tremor, Kyphoscoliosis, Microcephaly, Oligodontia, Pectus excavatum, Phenotypic variability, Recurrent hypoglycemia, Seizures, Short stature, Small for gestational age, Sparse hair, Spasticity
RG-div1	KCNN3	0.75152265	0	Intracellular ligand gated channel	BrainSpLMD|3782	OMIM|602983
RG-div1	TTYH1	0.749342149	0	Ion channel	BrainSpLMD|57348;Eurexp|euxassay_018316|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|37048	OMIM|605784
RG-div1	RP11.544A12.4	0.748868142	0			
RG-div1	FABP5P7	0.747310587	0			
RG-div1	ZFHX4	0.745036062	0	Transcription factor	BrainSpLMD|79776;Eurexp|euxassay_005820|epidermis, mantle layer, nasal septum, urethra;BrainSpMouseDev|56662	OMIM|606940;HPO|79776|Autosomal dominant inheritance, Congenital ptosis
RG-div1	PTAR1	0.744936857	0	Unclassified		
RG-div1	RFC4	0.744766137	0	DNA binding protein	BrainSpLMD|5984	OMIM|102577
RG-div1	PER2	0.742551793	0	DNA binding protein	BrainSpLMD|8864;Eurexp|euxassay_019474|adrenal gland, larynx, lung, metanephros, olfactory, pancreas, rectum, stomach, testis, thyroid, trachea, urethra, ventricular layer;BrainSpMouseDev|18393	SFARI||Autism, 3 - Suggestive evidence;OMIM|603426;HPO|8864|Autosomal dominant inheritance, Depressivity, Sleep-wake cycle disturbance
RG-div1	SLC25A5	0.739909135	0	Integral membrane protein		OMIM|300150
RG-div1	MBNL2	0.739818421	0	RNA binding protein	BrainSpLMD|10150;Eurexp|euxassay_005986|cerebral cortex, dorsal root ganglion, embryo, forebrain, glossopharyngeal IX, lung, midbrain, oesophagus, trigeminal V, vagus X	OMIM|607327
RG-div1	ZEB1	0.739477128	0	Transcription factor	BrainSpLMD|6935;Eurexp|euxassay_015398|central nervous system, meninges, vertebral axis muscle system;BrainSpMouseDev|21178	OMIM|189909;COSMIC||CCRCC, melanoma;HPO|6935|Autosomal dominant inheritance, Corneal dystrophy, Corneal guttata
RG-div1	SNX5	0.737245107	0	Transport/cargo protein	BrainSpLMD|27131;Eurexp|euxassay_011463|clavicle, cortex, epithelium, exoccipital bone, floor plate, fundus region, hindgut, incisor, lobe, lung, mandible, marginal layer, maxilla, midgut, molar, naris, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, roof, stomach, submandibular gland primordium, temporal bone, thymus primordium, thyroid, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|605937
RG-div1	TPI1P1	0.736770851	0			
RG-div1	RHEB	0.735114983	0	GTPase	BrainSpLMD|6009;Eurexp|euxassay_000326|basioccipital bone, basisphenoid bone, dorsal root ganglion, midbrain, nucleus pulposus, olfactory lobe, otic capsule, ventricular layer;BrainSpMouseDev|19507	OMIM|601293
RG-div1	CMC2	0.73423369	0	Unclassified	BrainSpLMD|56942	
RG-div1	XPO1	0.732213494	0	Transport/cargo protein	BrainSpLMD|7514	SFARI||Autism, 4 - Minimal evidence;OMIM|602559;COSMIC||CLL
RG-div1	ING3	0.730129918	0	Cell cycle control protein	BrainSpLMD|54556	OMIM|607493
RG-div1	HNRNPF	0.725565483	0	Ribonucleoprotein	BrainSpLMD|3185	OMIM|601037
RG-div1	FGFR2	0.725400216	0	Receptor tyrosine kinase	BrainSpLMD|2263;BrainSpMouseDev|13960	OMIM|176943;COSMIC||gastric, NSCLC, endometrial, Crouzon, Pfeiffer, and Apert syndromes;HPO|2263|2-3 finger syndactyly, 2-3 toe syndactyly, Abnormal facial shape, Abnormal heart morphology, Abnormal morphology of the limbic system, Abnormal renal morphology, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the cervical spine, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the palate, Abnormality of the pancreas, Abnormality of the periosteum, Abnormality of the pinna, Abnormality of the ribs, Absence of Stensen duct, Absent first metatarsal, Absent lacrimal punctum, Absent proximal phalanx of thumb, Absent radius, Absent septum pellucidum, Acanthosis nigricans, Acne, Acrobrachycephaly, Agenesis of corpus callosum, Alacrima, Anomalous tracheal cartilage, Anteriorly placed anus, Anteverted nares, Aplasia of the parotid gland, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Arachnodactyly, Arachnoid cyst, Arnold-Chiari malformation, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bicoronal synostosis, Bifid scrotum, Bifid uvula, Bilateral single transverse palmar creases, Bilateral triphalangeal thumbs, Blepharospasm, Brachycephaly, Brachydactyly, Brachyturricephaly, Breast carcinoma, Broad distal hallux, Broad distal phalanx of the thumb, Broad forehead, Broad hallux, Broad hallux phalanx, Broad metatarsal, Broad thumb, Bronchomalacia, Buphthalmos, Calcaneonavicular fusion, Camptodactyly, Camptodactyly of finger, Carious teeth, Cartilaginous trachea, Cerebellar hypoplasia, Cervical C5/C6 vertebrae fusion, Choanal atresia, Choanal stenosis, Chronic otitis media, Cleft of chin, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Cloverleaf skull, Conductive hearing impairment, Congenital stationary night blindness, Conical incisor, Conjunctivitis, Convex nasal ridge, Corneal perforation, Coronal craniosynostosis, Coronal hypospadias, Craniofacial dysostosis, Craniosynostosis, Cryptorchidism, Cupped ear, Cutaneous finger syndactyly, Dacryocystitis, Decreased calvarial ossification, Delayed cranial suture closure, Delayed eruption of primary teeth, Delayed eruption of teeth, Dental crowding, Dental malocclusion, Depressed nasal bridge, Deviation of the thumb, Dolichocephaly, Downslanted palpebral fissures, Dysgerminoma, Ectopic anus, Elbow ankylosis, Esophageal atresia, External ear malformation, Extramedullary hematopoiesis, Facial asymmetry, Feeding difficulties in infancy, Femoral bowing, Finger syndactyly, Flat face, Flat forehead, Frontal bossing, Fused labia minora, Gingival overgrowth, Global developmental delay, Growth abnormality, Hallux valgus, Hallux varus, Hearing abnormality, Hearing impairment, High forehead, High palate, Hirsutism, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hyperextensible skin, Hyperlordosis, Hypertelorism, Hypertension, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the lacrimal puncta, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplasia of the zygomatic bone, Hypoplastic ischia, Hypoplastic labia majora, Hypoplastic lacrimal duct, Incomplete ossification of pubis, Increased intracranial pressure, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Joint stiffness, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Lambdoidal craniosynostosis, Large fontanelles, Laryngomalacia, Limitation of joint mobility, Limited elbow extension, Long nose, Long philtrum, Low anterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Malar flattening, Mandibular prognathia, Megalencephaly, Megalocornea, Melanocytic nevus, Metopic depression, Micrognathia, Microtia, Midface retrusion, Mixed hearing impairment, Morphological abnormality of the semicircular canal, Multiple suture craniosynostosis, Narrow chest, Narrow internal auditory canal, Narrow nose, Narrow palate, Narrow pelvis bone, Nasolacrimal duct obstruction, Natal tooth, Nephrosclerosis, Open bite, Optic atrophy, Osteopenia, Overfolding of the superior helices, Overriding aorta, Oxycephaly, Palmoplantar cutis gyrata, Palmoplantar cutis laxa, Palmoplantar keratoderma, Parietal foramina, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of the distal phalanx of the 3rd finger, Partial duplication of thumb phalanx, Periorbital fullness, Plagiocephaly, Posterior fossa cyst, Preauricular skin furrow, Preaxial polydactyly, Prominent crus of helix, Prominent nasal bridge, Prominent scrotal raphe, Proptosis, Ptosis, Pyloric stenosis, Radial deviation of the 3rd finger, Radioulnar synostosis, Recurrent corneal erosions, Reduced number of teeth, Renal agenesis, Respiratory distress, Rocker bottom foot, Sagittal craniosynostosis, Seizures, Shallow orbits, Short clavicles, Short foot, Short hallux, Short metatarsal, Short middle phalanx of toe, Short nose, Short palm, Short stature, Shortening of all middle phalanges of the fingers, Skull asymmetry, Sleep apnea, Small hand, Small nail, Small thenar eminence, Somatic mutation, Steep acetabular roof, Stenosis of the external auditory canal, Stomach cancer, Strabismus, Subcutaneous nodule, Syndactyly, Synostosis of carpal bones, Telecanthus, Toe syndactyly, Tracheomalacia, Turricephaly, Ulnar bowing, Underdeveloped supraorbital ridges, Upper airway obstruction, Vaginal atresia, Variable expressivity, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide anterior fontanel, Xerostomia
RG-div1	VCL	0.725350087	0	Cytoskeletal associated protein	BrainSpLMD|7414	OMIM|193065;HPO|7414|Autosomal dominant inheritance, Congestive heart failure, Dilated cardiomyopathy, Dyspnea, Endocardial fibrosis, Hypertrophic cardiomyopathy
RG-div1	DCP2	0.725147914	0	RNA binding protein	BrainSpLMD|167227	OMIM|609844
RG-div1	NUCKS1	0.722268787	0	DNA binding protein	BrainSpLMD|64710	OMIM|611912
RG-div1	ABCD3	0.721770665	0	Integral membrane protein	BrainSpLMD|5825	OMIM|170995;HPO|5825|Autosomal recessive inheritance, Elevated hepatic transaminases, Hepatic failure, Hepatic fibrosis, Hepatomegaly, Infantile onset, Iron deficiency anemia, Jaundice, Progressive, Splenomegaly
RG-div1	COL11A1	0.717258743	0	Extracellular matrix protein	BrainSpLMD|1301;Eurexp|euxassay_004200|axial skeleton, clavicle, cranium, femur, fibula, footplate, handplate, humerus, hyoid bone, mandible, nasal septum, otic capsule, palatal shelf, pelvic girdle, radius, rib, sternum, tibia, turbinate bones, ulna;BrainSpMouseDev|12597	OMIM|120280;HPO|1301|Abnormal diaphysis morphology, Abnormal form of the vertebral bodies, Abnormality of the dentition, Abnormality of the metaphysis, Abnormality of the pinna, Abnormality of the vitreous humor, Absent frontal sinuses, Amblyopia, Anterior rib cupping, Anteverted nares, Arachnodactyly, Arthralgia, Arthropathy, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bifid uvula, Brachycephaly, Brachydactyly, Broad ischia, Broad long bones, Broad ribs, Calcification of falx cerebri, Camptodactyly, Cataract, Cerebral calcification, Cleft palate, Clinodactyly of the 5th finger, Congenital cataract, Corneal opacity, Coxa valga, Depressed nasal bridge, Downslanted palpebral fissures, Dumbbell-shaped long bone, Ectopia lentis, Epicanthus, Epiphyseal dysplasia, Esotropia, Femoral bowing, Fibular hypoplasia, Flat face, Frontal bossing, Genu valgum, Glaucoma, Glossoptosis, Hearing abnormality, Hydrops fetalis, Hypertelorism, Hypohidrosis, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hypoplastic fingernail, Hypoplastic frontal sinuses, Hypoplastic ilia, Hypoplastic ischia, Hypoplastic scapulae, Hypoplastic toenails, Hypotrichosis, Irregular distal femoral epiphysis, Irregular proximal tibial epiphyses, Irregular vertebral endplates, Joint contracture of the hand, Joint hyperflexibility, Joint hypermobility, Lens luxation, Long clavicles, Long fingers, Long philtrum, Low-set ears, Macrodontia of permanent maxillary central incisor, Malar flattening, Megalocornea, Meningeal calcification, Micrognathia, Micromelia, Midface retrusion, Myopia, Narrow chest, Narrow greater sacrosciatic notches, Narrow mouth, Omphalocele, Osteoarthritis, Patent foramen ovale, Pierre-Robin sequence, Platyspondyly, Posterior rib cupping, Posterior vertebral hypoplasia, Premature birth, Proptosis, Protuberant abdomen, Radial bowing, Respiratory insufficiency, Retinal detachment, Retinopathy, Rhizomelia, Round face, Sensorineural hearing impairment, Severe Myopia, Short femur, Short foot, Short long bone, Short neck, Short nose, Short palm, Short ribs, Short stature, Small distal femoral epiphysis, Small hand, Small proximal tibial epiphyses, Spondyloepiphyseal dysplasia, Stillbirth, Thick lower lip vermilion, Thick upper lip vermilion, Thickened calvaria, Thin clavicles, Thin ribs, Thoracic hypoplasia, Ulnar bowing, Upper airway obstruction, Visual impairment, Vitreoretinal degeneration, Wide anterior fontanel, Wide nasal bridge, Wide tufts of distal phalanges, Widely patent coronal suture, Widely patent sagittal suture
RG-div1	EXOSC9	0.713827751	0	Ribonuclease	BrainSpLMD|5393	OMIM|606180
RG-div1	USP1	0.711223713	0	Ubiquitin proteasome system protein	BrainSpLMD|7398	OMIM|603478
RG-div1	CCDC47	0.709537706	0	Unclassified	BrainSpLMD|57003;Eurexp|euxassay_000833|submandibular gland primordium	
RG-div1	RBM15	0.707992975	0	RNA binding protein	BrainSpLMD|64783	OMIM|606077;COSMIC||acute megakaryocytic leukaemia
RG-div1	SNRPB	0.707824759	0	RNA binding protein	BrainSpLMD|6628	OMIM|182282;HPO|6628|11 pairs of ribs, Abnormality of the dentition, Anomalous rib insertion to vertebrae, Anomalous tracheal cartilage, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Calcaneal epiphyseal stippling, Cleft palate, Cleft soft palate, Clinodactyly of the 5th finger, Conductive hearing impairment, Congenital hip dislocation, Death in infancy, Ectopic kidney, Elbow flexion contracture, Epicanthus, Feeding difficulties, Gastroesophageal reflux, Glossoptosis, High palate, Horseshoe kidney, Intellectual disability, Intrauterine growth retardation, Kyphosis, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Nasal speech, Neonatal respiratory distress, Patent ductus arteriosus, Polyhydramnios, Porencephalic cyst, Posterior rib gap, Posteriorly rotated ears, Postnatal growth retardation, Renal cyst, Scoliosis, Short hard palate, Short humerus, Short stature, Thoracic hypoplasia, Tracheomalacia, Ventricular septal defect, Webbed neck
RG-div1	CH17.449C21.1	0.707792512	0			
RG-div1	HMGB3	0.706756688	0	DNA binding protein	BrainSpLMD|3149;BrainSpMouseDev|15129	OMIM|300193;HPO|3149|Abnormality of the pinna, Anteverted ears, Coloboma, Esotropia, Global developmental delay, Intellectual disability, Microcephaly, Microcornea, Microphthalmia, Pendular nystagmus, Ptosis, Short stature, X-linked inheritance
RG-div1	CSMD2	0.7037783	0	Unclassified	BrainSpLMD|114784;Eurexp|euxassay_013347|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	OMIM|608398
RG-div1	LIN9	0.703336291	0	Transcription regulatory protein	BrainSpLMD|286826;Eurexp|euxassay_006443|ventricular layer	OMIM|609375
RG-div1	SLC16A1	0.702590752	0	Membrane transport protein	BrainSpLMD|6566;Eurexp|euxassay_003351|Meckel's cartilage, axial muscle, capsule, clavicle, epidermis, foregut-midgut junction, glomeruli, hindgut, incisor, left lung, lobe, loop, marginal layer, meninges, midgut, molar, nasal septum, olfactory, pancreas, rectum, right lung, submandibular gland primordium, testis, thymus primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|600682;HPO|6566|Autosomal dominant inheritance, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise-induced muscle cramps, Exercise-induced muscle fatigue, Exercise-induced muscle stiffness, Feeding difficulties, Global developmental delay, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability, Ketoacidosis, Ketotic hypoglycemia, Pancreatic islet-cell hyperplasia
RG-div1	TMBIM6	0.701815596	0	Integral membrane protein	BrainSpLMD|7009	OMIM|600748
RG-div1	TMX1	0.699297215	0	Enzyme: Oxidoreductase	BrainSpLMD|81542	OMIM|610527
RG-div1	MOV10	0.699216006	0	Unclassified	BrainSpLMD|4343;Eurexp|euxassay_012341|anterior, midgut, olfactory, otic capsule, pituitary, stomach, turbinate bones	OMIM|610742
RG-div1	B3GAT2	0.696034886	0	Enzyme: Transferase;Integral membrane protein	BrainSpLMD|135152;BrainSpMouseDev|93607	OMIM|607497
RG-div1	TULP3	0.695442208	0	Transcription regulatory protein	BrainSpLMD|7289	OMIM|604730
RG-div1	TPI1	0.693553886	0	Enzyme: Isomerase	BrainSpLMD|7167	OMIM|190450;HPO|7167|Abnormality of immune system physiology, Autosomal recessive inheritance, Central nervous system degeneration, Cholecystitis, Cholelithiasis, Chronic hemolytic anemia, Congestive heart failure, Diaphragmatic paralysis, Dystonia, Generalized hypotonia, Global developmental delay, Hemolytic anemia, Hyporeflexia, Jaundice, Kyphosis, Muscular hypotonia, Myopathy, Normochromic anemia, Normocytic anemia, Peripheral neuropathy, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Splenomegaly, Tremor, Unsteady gait
RG-div1	TEAD1	0.693053169	0	Transcription factor	BrainSpLMD|7003;BrainSpMouseDev|21437	OMIM|189967;HPO|7003|Astigmatism, Autosomal dominant inheritance, Myopia, Peripapillary chorioretinal atrophy, Slow progression
RG-div1	SNCAIP	0.692328478	0	Unclassified	BrainSpLMD|9627	OMIM|603779;HPO|9627|Bradykinesia, Constipation, Dementia, Depressivity, Dysarthria, Dysphagia, Dystonia, Insidious onset, Lewy bodies, Mask-like facies, Neuronal loss in central nervous system, Parkinsonism, Personality changes, Postural instability, Progressive, Resting tremor, Rigidity, Short stepped shuffling gait, Sleep disturbance, Sporadic, Substantia nigra gliosis, Urinary urgency, Weak voice
RG-div1	SPATA5	0.688785545	0	ATPase	BrainSpLMD|166378	OMIM|613940;HPO|166378|Absent speech, Autosomal recessive inheritance, EEG abnormality, Feeding difficulties, Global developmental delay, Intellectual disability, Intellectual disability, severe, Limb hypertonia, Microcephaly, Muscular hypotonia of the trunk, Seizures, Sensorineural hearing impairment, Spasticity
RG-div1	TMEM237	0.688335875	0	Unclassified	BrainSpLMD|65062	OMIM|614423;HPO|65062|Apnea, Ataxia, Autistic behavior, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Coloboma, Dandy-Walker malformation, Deeply set eye, Downslanted palpebral fissures, Encephalocele, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, High forehead, Highly arched eyebrow, Hydrocephalus, Hypertelorism, Hypertension, Intellectual disability, Intellectual disability, severe, Iris coloboma, Irritability, Long face, Low-set ears, Low-set, posteriorly rotated ears, Malar flattening, Microphthalmia, Molar tooth sign on MRI, Morning glory anomaly, Muscular hypotonia, Nephropathy, Nystagmus, Oculomotor apraxia, Open mouth, Postaxial polydactyly, Posteriorly rotated ears, Prominent nasal bridge, Ptosis, Renal cyst, Retinal dystrophy, Short philtrum, Strabismus, Tachypnea, Tented upper lip vermilion
RG-div1	TMEM106C	0.688195192	0	Unclassified	BrainSpLMD|79022	
RG-div1	NUP43	0.687729736	0	Transport/cargo protein	BrainSpLMD|348995;Eurexp|euxassay_007275|bladder, cortex, incisor, left lung, liver, mesenchyme, midgut, molar, olfactory, pectoral girdle and thoracic body wall, right lung, thymus primordium	OMIM|608141
RG-div1	NADK2	0.684293848	0	Unclassified	BrainSpLMD|133686	OMIM|615787;HPO|133686|Autosomal recessive inheritance, Cerebral atrophy, Choreoathetosis, Cortical visual impairment, Death in infancy, Decreased plasma free carnitine, Dystonia, Encephalopathy, Failure to thrive, Global developmental delay, Hyperlysinemia, Leukodystrophy, Microcephaly, Muscular hypotonia, Neonatal hypotonia, Nystagmus, Seizures, Spasticity, Tetraplegia, Ventriculomegaly
RG-div1	BTG3	0.684233616	0	Cell cycle control protein	BrainSpLMD|10950	OMIM|605674
RG-div1	2-Sep	0.683271198	0			
RG-div1	GAREML	0.683187209	0			
RG-div1	MAGT1	0.680613487	0	Unclassified	BrainSpLMD|84061	OMIM|300715;HPO|84061|Decreased T cell activation, Decreased number of CD4+ T cells, Immunodeficiency, Lymphoma, Recurrent viral infections, X-linked inheritance
RG-div1	PHIP	0.679330249	0	Ligand	BrainSpLMD|55023	SFARI||Autism, 4 - Minimal evidence;OMIM|612870
RG-div1	JUND	0.678652432	0	Transcription factor	BrainSpLMD|3727;BrainSpMouseDev|16251	OMIM|165162
RG-div1	MSI1	0.678203971	0	RNA binding protein	BrainSpLMD|4440	OMIM|603328
RG-div1	WASF2	0.67809428	0	Cytoskeletal associated protein	BrainSpLMD|10163	OMIM|605875
RG-div1	TAGLN2P1	0.677777076	0			
RG-div1	WDHD1	0.677731992	0	DNA binding protein	BrainSpLMD|11169;Eurexp|euxassay_012406|submandibular gland primordium, thymus primordium, ventricular layer;BrainSpMouseDev|85441	OMIM|608126
RG-div1	PTPRF	0.677300208	0	Receptor tyrosine phosphatase	BrainSpLMD|5792	OMIM|179590;HPO|5792|Absent nipple, Autosomal recessive inheritance, Broad nasal tip, Small earlobe, Smooth philtrum
RG-div1	NUDCD2	0.677091871	0	Unclassified	BrainSpLMD|134492;Eurexp|euxassay_006946|embryo	
RG-div1	KTN1	0.676152101	0	Anchor protein	BrainSpLMD|3895	OMIM|600381;COSMIC||papillary thyroid
RG-div1	MCL1	0.675641259	0	Chaperone	BrainSpLMD|4170	OMIM|159552
RG-div1	INHBB	0.675629117	0	Ligand	BrainSpLMD|3625;BrainSpMouseDev|16097	OMIM|147390
RG-div1	TOB1	0.672898082	0	Adapter molecule	BrainSpLMD|10140	OMIM|605523
RG-div1	EFNB2	0.672494013	0	Membrane bound ligand	BrainSpLMD|1948;Eurexp|euxassay_018950|bladder, incisor, lung, mantle layer, mesenchyme, metanephros, molar, oesophagus, pericardium, submandibular gland primordium, urethra, ventricular layer, vibrissa;BrainSpMouseDev|13420	OMIM|600527
RG-div1	RP11.95I19.3	0.672224856	0			
RG-div1	RAB3GAP2	0.671674591	0	GTPase activating protein	BrainSpLMD|25782	OMIM|609275;HPO|25782|Abnormal dermatoglyphics, Abnormal toenail morphology, Abnormality of retinal pigmentation, Abnormality of the distal phalanx of finger, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Asymmetry of the ears, Autosomal recessive inheritance, Brachycephaly, Broad fingertip, Broad nasal tip, Cardiomyopathy, Cataract, Cerebral cortical atrophy, Clitoral hypoplasia, Congenital cataract, Congestive heart failure, Cortical visual impairment, Cryptorchidism, Delayed puberty, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, Feeding difficulties in infancy, Flexion contracture, Furrowed tongue, Generalized hirsutism, Global brain atrophy, Global developmental delay, High palate, Hyperlordosis, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypotelorism, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphosis, Lissencephaly, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Macrotia, Malar flattening, Metatarsus adductus, Microcephaly, Microcornea, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Misalignment of teeth, Muscular hypotonia, Muscular hypotonia of the trunk, Optic atrophy, Overlapping toe, Pachygyria, Pectus carinatum, Pectus excavatum, Polymicrogyria, Posteriorly rotated ears, Postnatal growth retardation, Postnatal microcephaly, Prematurely aged appearance, Prominent antitragus, Prominent nasal bridge, Prominent nipples, Recurrent respiratory infections, Scoliosis, Scrotal hypoplasia, Severe global developmental delay, Short metacarpal, Short nose, Short palm, Short phalanx of finger, Short philtrum, Short stature, Short toe, Slender ulna, Spasticity, Talipes equinovarus, Talipes valgus, Tracheomalacia, Ulnar deviation of finger, Undetectable visual evoked potentials, Wide nasal bridge
RG-div1	FAM178A	0.671225178	0			
RG-div1	ALDH6A1	0.670873679	0	Enzyme: Dehydrogenase	BrainSpLMD|4329;Eurexp|euxassay_018815|choroid invagination, naris, nasal septum, otic capsule, turbinate bones, ventricular layer	OMIM|603178;HPO|4329|Abnormal facial shape, Autosomal recessive inheritance, Bulbous nose, Cataract, Delayed myelination, Depressed nasal bridge, Downslanted palpebral fissures, Dystonia, Epicanthus, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Long philtrum, Metabolic acidosis, Microcephaly, Microphthalmia, Muscular hypotonia, Phenotypic variability, Short nose, Tented upper lip vermilion
RG-div1	LSM5	0.669856735	0	RNA binding protein	BrainSpLMD|23658;Eurexp|euxassay_001693|cortex, oesophagus, thymus primordium, ventricular layer	OMIM|607285
RG-div1	PTGES3	0.667302098	0	Chaperone		OMIM|607061
RG-div1	C11orf49	0.666706436	0	Unclassified	BrainSpLMD|79096	
RG-div1	PAICS	0.664427268	0	Enzyme: Carboxylase	BrainSpLMD|10606;Eurexp|euxassay_018936|marginal layer, nucleus pulposus, submandibular gland primordium, ventricular layer, vibrissa	OMIM|172439
RG-div1	HIST1H1E	0.662450164	0	DNA binding protein	BrainSpLMD|3008;Eurexp|euxassay_005923|embryo	OMIM|142220;HPO|3008|Accelerated skeletal maturation, Amblyopia, Astigmatism, Autosomal dominant inheritance, Camptodactyly, Full cheeks, Global developmental delay, Hypertonia, Intellectual disability, Kyphoscoliosis, Macrocephaly, Neonatal hypotonia, Nevus, Strabismus, Talipes equinovarus, Telecanthus
RG-div1	C3orf58	0.661654471	0	Unclassified	BrainSpLMD|205428	SFARI||Autism, 4 - Minimal evidence;OMIM|612200
RG-div1	MAGI1	0.66114027	0	Cell junction protein	BrainSpLMD|9223;Eurexp|euxassay_016214|axial skeleton, clavicle, femur, fibula, humerus, pelvic girdle, rib, scapula, tibia	OMIM|602625
RG-div1	PDGFD	0.658910065	0	Growth factor	BrainSpLMD|80310;BrainSpMouseDev|47626	OMIM|609673
RG-div1	SUZ12	0.657556307	0	Unclassified	BrainSpLMD|23512;Eurexp|euxassay_011822|Meckel's cartilage, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, orbito-sphenoid, petrous part, scapula, tibia, turbinate	OMIM|606245;COSMIC||endometrial stromal tumour;HPO|23512|Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Accelerated skeletal maturation, Broad foot, Broad forehead, Broad thumb, Camptodactyly of finger, Deep philtrum, Deep-set nails, Feeding difficulties in infancy, Fine hair, Global developmental delay, Hoarse voice, Hypertelorism, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Joint stiffness, Large hands, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Micrognathia, Redundant skin, Retrognathia, Round face, Spasticity, Tall stature, Thin nail
RG-div1	PPT1	0.656930228	0	Enzyme: Hydrolase	BrainSpLMD|5538;Eurexp|euxassay_018600|primitive seminiferous tubules, thymus primordium, ventricular layer	OMIM|600722;HPO|5538|Abnormality of metabolism/homeostasis, Ataxia, Autosomal recessive inheritance, Blindness, Cerebral atrophy, Decreased light- and dark-adapted electroretinogram amplitude, Depressivity, EEG abnormality, Flexion contracture, Generalized hypotonia, Global developmental delay, Hallucinations, Increased neuronal autofluorescent lipopigment, Intellectual disability, Irritability, Loss of speech, Macular degeneration, Myoclonus, Onset, Optic atrophy, Postnatal microcephaly, Progressive microcephaly, Progressive visual loss, Psychomotor deterioration, Retinal degeneration, Seizures, Sleep disturbance, Spasticity, Undetectable electroretinogram
RG-div1	LGALS1	0.656758361	0	Ligand	BrainSpLMD|3956;Eurexp|euxassay_004032|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|16623	OMIM|150570
RG-div1	HIATL1	0.656690462	0			
RG-div1	TNPO2	0.654234865	0	Transport/cargo protein	BrainSpLMD|30000	OMIM|603002
RG-div1	SIN3A	0.653864472	0	Transcription regulatory protein	BrainSpLMD|25942	SFARI||Autism, 4 - Minimal evidence;OMIM|607776;HPO|25942|Abnormality of cardiovascular system morphology, Abnormality of the outer ear, Abnormality of the thorax, Abnormality of the voice, Aggressive behavior, Anisocoria, Anteverted nares, Arachnodactyly, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Brachydactyly, Cafe-au-lait spot, Clinodactyly, Congenital diaphragmatic hernia, Conspicuously happy disposition, Cryptorchidism, Cupped ear, Deeply set eye, Delayed speech and language development, Depressed nasal bridge, Developmental regression, Downslanted palpebral fissures, Dysplastic corpus callosum, Epicanthus, Facial asymmetry, Feeding difficulties in infancy, Fine hair, Flared nostrils, Gastrointestinal atresia, Generalized hypotonia, Global developmental delay, Growth delay, Growth hormone deficiency, Hearing impairment, High anterior hairline, High forehead, High palate, High, narrow palate, Highly arched eyebrow, Hyperactivity, Hypermetropia, Hypertelorism, Hypogonadism, Hypoplasia of the corpus callosum, Hypospadias, Immunodeficiency, Inguinal hernia, Intellectual disability, Intellectual disability, mild, Intestinal atresia, Intrauterine growth retardation, Iris coloboma, Joint hyperflexibility, Joint laxity, Long face, Long philtrum, Macrotia, Medial flaring of the eyebrow, Microcephaly, Micropenis, Microphallus, Microphthalmia, Microretrognathia, Muscular hypotonia, Narrow face, Narrow mouth, Nystagmus, Obesity, Open mouth, Phenotypic variability, Polyhydramnios, Prominent nasal bridge, Proximal placement of thumb, Radial deviation of finger, Recurrent infections, Scoliosis, Short nose, Short palm, Short stature, Short thumb, Single transverse palmar crease, Sleep disturbance, Small for gestational age, Smooth philtrum, Sparse and thin eyebrow, Sporadic, Strabismus, Thick lower lip vermilion, Thick nasal alae, Thin vermilion border, Toe syndactyly, Underdeveloped nasal alae, Upslanted palpebral fissure, Ventriculomegaly, Wide nasal bridge, Wide nose, Widely spaced teeth
RG-div1	SCLT1	0.649622293	0	Adapter molecule	BrainSpLMD|132320	OMIM|611399
RG-div1	DNAJB1	0.649575579	0	Heat shock protein	BrainSpLMD|3337	OMIM|604572;COSMIC||fibrolamellar hepatocellular carcinoma
RG-div1	CCNG1	0.648563563	0	Cell cycle control protein	BrainSpLMD|900;Eurexp|euxassay_011875|trigeminal V;BrainSpMouseDev|12235	OMIM|601578
RG-div1	MLC1	0.647687782	0	Membrane transport protein	BrainSpLMD|23209;Eurexp|euxassay_010374|ventricular layer	OMIM|605908;HPO|23209|Ataxia, Autosomal recessive inheritance, Diffuse spongiform leukoencephalopathy, Diffuse swelling of cerebral white matter, Infantile onset, Intellectual disability, mild, Macrocephaly, Megalencephaly, Motor delay, Seizures, Spasticity
RG-div1	NLGN4X	0.646845114	0	Adhesion molecule;Integral membrane protein	BrainSpLMD|57502	SFARI||Autism, 3 - Suggestive evidence;OMIM|300427;HPO|57502|Autism, Childhood onset, Delayed speech and language development, EEG abnormality, Heterogeneous, Impaired use of nonverbal behaviors, Increased serum serotonin, Inflexible adherence to routines or rituals, Intellectual disability, Lack of peer relationships, Lack of spontaneous play, Multifactorial inheritance, Restrictive behavior, Seizures, Sporadic, Stereotypy, X-linked inheritance
RG-div1	RBM23	0.645786135	0	Transcription regulatory protein	BrainSpLMD|55147	
RG-div1	IER2	0.645232611	0	Transcription factor	BrainSpLMD|9592;Eurexp|euxassay_013742|cochlea, incisor, molar, submandibular gland primordium, utricle, vestibular component, vibrissa	
RG-div1	PHACTR2	0.644257922	0	Enzyme regulator	BrainSpLMD|9749;Eurexp|euxassay_007706|alimentary system, cardiovascular system, cavities and their linings, choroid invagination, choroid plexus, gland, integumental system, limb, mesenchyme, renal/urinary system, reproductive system, respiratory system, roof plate, sensory organ, tail, ventricular layer, vertebral axis muscle system	OMIM|608724
RG-div1	TARS	0.643783562	0	Enzyme: Ligase	BrainSpLMD|6897;Eurexp|euxassay_006234|cortex, left, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|187790
RG-div1	DDIT3	0.642973366	0	Transcription factor	BrainSpLMD|1649;Eurexp|euxassay_009824|olfactory;BrainSpMouseDev|12978	OMIM|126337;COSMIC||liposarcoma;HPO|1649|Myxoid liposarcoma, Somatic mutation, Subcutaneous nodule
RG-div1	PNRC2	0.64201094	0	Ligand	Eurexp|euxassay_002876|thymus primordium, ventricular layer	OMIM|611882
RG-div1	PLIN2	0.639210773	0	Storage protein	BrainSpLMD|123	OMIM|103195
RG-div1	H2AFY	0.638506976	0	DNA binding protein	BrainSpLMD|9555	OMIM|610054
RG-div1	CSE1L	0.638500219	0	Transport/cargo protein	BrainSpLMD|1434;Eurexp|euxassay_000112|cortex, gland, glossopharyngeal IX, incisor, liver, lung, metanephros, physiological umbilical hernia, submandibular gland primordium, thymus primordium, trigeminal V, turbinate bones, vagus X, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|601342
RG-div1	MSN	0.637378706	0	Cytoskeletal protein	BrainSpLMD|4478;Eurexp|euxassay_009365|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, organ system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	SFARI||Autism, 5 - Hypothesized but untested;OMIM|309845;COSMIC||ALCL;HPO|4478|Decreased antibody level in blood, Eczema, Lymphopenia, Recurrent respiratory infections, Recurrent urinary tract infections, X-linked recessive inheritance
RG-div1	HMGB1P5	0.63657984	0			
RG-div1	PARP2	0.635808977	0	DNA binding protein;Enzyme: Ribosyltransferase	BrainSpLMD|10038	OMIM|607725
RG-div1	EZR	0.632480603	0	Anchor protein	BrainSpLMD|7430;Eurexp|euxassay_018306|axial skeleton, calyces, choroid plexus, cochlea, dorsal root ganglion, epidermis, epithelium, fundus region, hindgut, incisor, larynx, lens, lobe, lung, marginal layer, midgut, molar, oesophagus, oral epithelium, pelvis, penis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, rib, saccule, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricle, ventricular layer, vibrissa	OMIM|123900;COSMIC||NSCLC
RG-div1	FGFBP3	0.630178649	0	Unclassified	BrainSpLMD|143282;Eurexp|euxassay_000173|basal columns, basal plate, corpus striatum, floor plate, floorplate, mantle layer, metencephalon, spinal cord, ventral grey horn, ventricular layer	SFARI||Autism, 5 - Hypothesized but untested
RG-div1	MFAP2	0.629514274	0	Extracellular matrix protein	BrainSpLMD|4237;Eurexp|euxassay_002967|skeleton	OMIM|156790
RG-div1	ELP4	0.629295932	0	Enzyme: Acyltransferase	BrainSpLMD|26610	SFARI||Autism, 3 - Suggestive evidence;OMIM|606985;HPO|26610|Aniridia, Autosomal dominant inheritance, Cataract, Glaucoma, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Nystagmus, Opacification of the corneal stroma, Optic nerve hypoplasia
RG-div1	SIPA1L1	0.628397051	0	GTPase activating protein	BrainSpLMD|26037	OMIM|617504
RG-div1	RDX	0.625153844	0	Cytoskeletal associated protein	BrainSpLMD|5962	OMIM|179410;HPO|5962|Autosomal recessive inheritance, Infantile onset, Profound sensorineural hearing impairment
RG-div1	AZIN1	0.622249958	0	Unclassified	BrainSpLMD|51582	OMIM|607909
RG-div1	PRDX3	0.622249734	0	Enzyme: Peroxidase	BrainSpLMD|10935;Eurexp|euxassay_006583|adrenal gland, liver, ovary, thymus primordium, thyroid	OMIM|604769
RG-div1	LYRM2	0.622201558	0	Enzyme: Oxidoreductase	BrainSpLMD|57226	
RG-div1	FAM96A	0.620743273	0	Unclassified	BrainSpLMD|84191;Eurexp|euxassay_006563|liver	
RG-div1	HMGB1P10	0.61968017	0			
RG-div1	CENPJ	0.616513126	0	Cytoskeletal protein	BrainSpLMD|55835;Eurexp|euxassay_014821|cortex, incisor, lung, marginal layer, molar, neural retina, olfactory, pituitary, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ	OMIM|609279;HPO|55835|11 pairs of ribs, Abnormal cortical bone morphology, Abnormality of dental enamel, Absent earlobe, Agenesis of corpus callosum, Autosomal recessive inheritance, Cachexia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital onset, Convex nasal ridge, Craniosynostosis, Decreased body weight, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Heterogeneous, Heterotopia, High forehead, Hip dysplasia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Pachygyria, Prematurely aged appearance, Reduced number of teeth, Retrognathia, Sandal gap, Short stature, Sloping forehead, Small cerebral cortex, Sparse scalp hair, Steep acetabular roof, Thin upper lip vermilion, Underdeveloped nasal alae, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
RG-div1	PDCD4	0.612911544	0	Unclassified	BrainSpLMD|27250;Eurexp|euxassay_010730|epidermis, epithelium, floor plate, floorplate, larynx, olfactory, sternum, thymus primordium, urethra, ventricular layer	OMIM|608610
RG-div1	ARHGAP5	0.612505193	0	GTPase activating protein	BrainSpLMD|394	OMIM|602680;COSMIC||colon cancer, glioma
RG-div1	ATP2B4	0.612089843	0	ATPase	BrainSpLMD|493;Eurexp|euxassay_013200|lobe, ventral grey horn	OMIM|108732
RG-div1	TMEM98	0.610975902	0	Integral membrane protein	BrainSpLMD|26022	OMIM|615949;HPO|26022|Abnormality of the choroid, Autosomal dominant inheritance, Glaucoma, High-grade hypermetropia, Microphthalmia, Strabismus
RG-div1	ZMAT1	0.609902691	0	DNA binding protein	BrainSpLMD|84460	OMIM|301007
RG-div1	PTPN13	0.608693575	0	Tyrosine phosphatase	BrainSpLMD|5783	OMIM|600267;COSMIC||lung, NSCLC, gastric, peritoneal carcinomatosis, hepatocellular
RG-div1	WBP4	0.604500283	0	RNA binding protein	BrainSpLMD|11193	OMIM|604981
RG-div1	FGFR1OP	0.603645452	0	Unclassified	BrainSpLMD|11116	OMIM|605392;COSMIC||MPN, NHL
RG-div1	CTNND1	0.603413226	0	Adhesion molecule	BrainSpLMD|1500;BrainSpMouseDev|12173	OMIM|601045;COSMIC||large intestine carcinoma
RG-div1	JADE1	0.603400762	0	Unclassified	BrainSpLMD|79960	OMIM|610514
RG-div1	PSAP	0.602123585	0	Integral membrane protein	BrainSpLMD|5660	OMIM|176801;HPO|5660|Abnormality of eye movement, Abnormality of glycosphingolipid metabolism, Abnormality of the periventricular white matter, Anemia, Autosomal recessive inheritance, Babinski sign, CNS demyelination, Central apnea, Cerebral dysmyelination, Congenital onset, Death in childhood, Death in infancy, Decreased nerve conduction velocity, Developmental regression, Dysarthria, Dysphagia, Dystonia, Erlenmeyer flask deformity of the femurs, Fasciculations, Feeding difficulties, Gait ataxia, Generalized clonic seizures, Generalized hypotonia, Generalized tonic-clonic seizures, Global brain atrophy, Global developmental delay, Hepatomegaly, Hepatosplenomegaly, Hyperkinesis, Hyperreflexia, Hypertonia, Hypoplasia of the corpus callosum, Hyporeflexia, Increased CSF protein, Increased cerebral lipofuscin, Infantile onset, Loss of speech, Mental deterioration, Muscle weakness, Muscular hypotonia, Myoclonus, Neuronal loss in central nervous system, Osteopenia, Peripheral demyelination, Polyneuropathy, Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Seizures, Spastic tetraparesis, Splenomegaly, Thrombocytopenia, Urinary incontinence, Variable expressivity
RG-div1	RNF168	0.600881549	0	Transcription regulatory protein	BrainSpLMD|165918	OMIM|612688;HPO|165918|Abnormal facial shape, Ataxia, Autosomal recessive inheritance, Dry skin, IgG deficiency, Immunodeficiency, Increased sensitivity to ionizing radiation, Mild global developmental delay, Short stature
RG-div1	ZDHHC13	0.599839045	0	Unclassified	BrainSpLMD|54503;Eurexp|euxassay_013713|cortex, epithelium, molar, olfactory, vibrissa, vomeronasal organ	OMIM|612815
RG-div1	MIR29B1	0.599460643	0			OMIM|610783
RG-div1	RAB8B	0.598564933	0	GTPase	BrainSpLMD|51762	OMIM|613532
RG-div1	HIPK2	0.59536917	0	Serine/threonine kinase	BrainSpLMD|28996	OMIM|606868
RG-div1	JUN	0.594212832	0	Transcription factor	BrainSpLMD|3725;Eurexp|euxassay_017995|mantle layer, metacarpus, metatarsus, olfactory, phalanx, ventral grey horn, ventricular layer;BrainSpMouseDev|16249	OMIM|165160;COSMIC||sarcoma
RG-div1	CCP110	0.594086933	0		BrainSpLMD|9738;Eurexp|euxassay_005409|olfactory	OMIM|609544
RG-div1	TWSG1	0.592825275	0	Secreted polypeptide	BrainSpLMD|57045	OMIM|605049
RG-div1	SMAD9	0.590742311	0	Transcription factor;Unclassified	BrainSpLMD|4093;BrainSpMouseDev|35279	OMIM|603295;HPO|4093|Autosomal dominant inheritance, Incomplete penetrance, Increased pulmonary vascular resistance, Progressive, Pulmonary arterial hypertension
RG-div1	AGO3	0.589481662	0	Translation regulatory protein	BrainSpLMD|192669	OMIM|607355
RG-div1	NUP98	0.587824834	0	Transport/cargo protein	BrainSpLMD|4928	OMIM|601021;COSMIC||AML
RG-div1	VRK1	0.587581716	0	Serine/threonine kinase	BrainSpLMD|7443	OMIM|602168;HPO|7443|Abnormality of the foot, Ataxia, Autosomal recessive inheritance, Basal ganglia gliosis, Cerebellar hypoplasia, Congenital contracture, Congenital onset, Degeneration of anterior horn cells, EMG: neuropathic changes, Fasciculations, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hyperreflexia, Hypoplasia of the pons, Hypoplasia of the ventral pons, Intellectual disability, Muscle weakness, Neuronal loss in basal ganglia, Progressive, Respiratory insufficiency, Spinal muscular atrophy
RG-div1	COMMD4	0.585797341	0	Unclassified	BrainSpLMD|54939	OMIM|616701
RG-div1	KLF6	0.583347819	0	Transcription factor	BrainSpLMD|1316;Eurexp|euxassay_018886|mantle layer, marginal layer;BrainSpMouseDev|23602	OMIM|602053;COSMIC||prostate, glioma;HPO|1316|Autosomal dominant inheritance, Prostate cancer, Somatic mutation, Stomach cancer
RG-div1	ATP1A2	0.580637586	0	ATPase	BrainSpLMD|477;Eurexp|euxassay_001505|brain, cervical, cervico-thoracic, cochlea, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mesenchyme, naris, neural retina, spinal cord, stroma, thoracic, tongue, trigeminal V, turbinate bones, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|62830	OMIM|182340;HPO|477|Abnormality of movement, Aphasia, Apraxia, Ataxia, Autosomal dominant inheritance, Blurred vision, Choreoathetosis, Coma, Confusion, Diplopia, Drowsiness, Dysarthria, Dysphasia, Dystonia, Episodic ataxia, Episodic hemiplegia, Episodic quadriplegia, Fever, Generalized tonic-clonic seizures, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Heterogeneous, Incomplete penetrance, Intellectual disability, Mental deterioration, Migraine with aura, Nystagmus, Seizures, Transient unilateral blurring of vision, Vertigo
RG-div1	RAP1B	0.579547124	0	GTPase	BrainSpLMD|5908	OMIM|179530;HPO|5908|Abnormal dermatoglyphics, Abnormality of the cardiac septa, Butterfly vertebrae, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Conductive hearing impairment, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Hemivertebrae, High palate, Highly arched eyebrow, Hydrocephalus, Hypodontia, Joint hyperflexibility, Long eyelashes, Macrotia, Microcephaly, Microdontia, Muscular hypotonia, Protruding ear, Ptosis, Recurrent infections, Scoliosis, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Sparse lateral eyebrow, Strabismus, Ventriculomegaly, Widely spaced teeth
RG-div1	ETF1	0.57920925	0	Translation regulatory protein	BrainSpLMD|2107	OMIM|600285
RG-div1	SREK1	0.577359978	0	RNA binding protein	BrainSpLMD|140890	OMIM|609268
RG-div1	SEMA5A	0.576684208	0	Unclassified	BrainSpLMD|9037;BrainSpMouseDev|20119	SFARI||Autism, 3 - Suggestive evidence;OMIM|609297;HPO|9037|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
RG-div1	11-Sep	0.576554885	0			
RG-div1	NSRP1	0.574546323	0	Unclassified	BrainSpLMD|84081	OMIM|616173
RG-div1	NUP35	0.573424978	0	Transport/cargo protein	BrainSpLMD|129401	OMIM|608140
RG-div1	CCT5	0.573022505	0	Chaperone	BrainSpLMD|22948	OMIM|610150;HPO|22948|Abnormality of the foot, Acral ulceration and osteomyelitis leading to autoamputation of digits, Atrophy of the spinal cord, Autosomal recessive inheritance, Babinski sign, Clonus, Decreased circulating low-density lipoprotein levels, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment, Distal sensory loss of all modalities, Hypocholesterolemia, Infantile onset, Juvenile onset, Peripheral axonal neuropathy, Spastic gait, Spastic paraplegia
RG-div1	SRGAP2C	0.570590303	0			OMIM|614704
RG-div1	ITGB1BP1	0.569240278	0	Adapter molecule	BrainSpLMD|9270;Eurexp|euxassay_006800|left lung, right lung	OMIM|607153
RG-div1	PPAT	0.569166231	0	Enzyme: Ribosyltransferase	BrainSpLMD|5471;Eurexp|euxassay_012583|left lung, liver, metanephros, midgut, olfactory lobe, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|172450
RG-div1	NCKAP5	0.568208546	0	Unclassified	BrainSpLMD|344148;Eurexp|euxassay_016857|brain, cochlea, epithelium, left lung, otic capsule, retina, right lung, spinal cord	SFARI||Autism, 4 - Minimal evidence;OMIM|608789
RG-div1	TPM4	0.567871771	0	Cytoskeletal protein		OMIM|600317;COSMIC||ALCL
RG-div1	GLO1	0.567177186	0	Enzyme: Lyase	BrainSpLMD|2739	SFARI||Autism, 4 - Minimal evidence;OMIM|138750
RG-div1	TLE4	0.565549271	0	Transcription factor	BrainSpLMD|7091;Eurexp|euxassay_018870|calyces, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|21647	OMIM|605132
RG-div1	CENPC	0.563059135	0	DNA binding protein	BrainSpLMD|1060	OMIM|117141
RG-div1	FUT9	0.560051554	0	Enzyme: Fucosyltransferase	BrainSpLMD|10690	OMIM|606865
RG-div1	CD99	0.55803411	0	Unclassified		OMIM|450000
RG-div1	PCNT	0.556679223	0	Cytoskeletal protein	BrainSpLMD|5116;BrainSpMouseDev|18307	OMIM|605925;HPO|5116|Abnormality of dental enamel, Abnormality of epiphysis morphology, Abnormality of female external genitalia, Abnormality of the metaphysis, Absent earlobe, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Autosomal recessive inheritance, Brachydactyly, Cachexia, Cafe-au-lait spot, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Coxa vara, Craniosynostosis, Delayed skeletal maturation, Dilatation of the cerebral artery, Disproportionate short stature, Downslanted palpebral fissures, Dry skin, Fine hair, Flared metaphysis, Full cheeks, Glaucoma, Global developmental delay, High pitched voice, Hip dysplasia, Hypermetropia, Hypopigmented skin patches, Hypoplasia of dental enamel, Hypoplastic iliac wing, Hypospadias, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Microcephaly, Microdontia, Micrognathia, Micromelia, Microtia, Mild global developmental delay, Moyamoya phenomenon, Multiple cafe-au-lait spots, Narrow face, Narrow pelvis bone, Nasal speech, Postnatal growth retardation, Precocious puberty, Prematurely aged appearance, Prominent nasal bridge, Prominent nose, Proximal femoral epiphysiolysis, Pseudoepiphyses of the metacarpals, Radial bowing, Reduced number of teeth, Retrognathia, Sandal gap, Scoliosis, Sensorineural hearing impairment, Short 1st metacarpal, Short distal phalanx of finger, Short stature, Slender long bone, Sloping forehead, Sparse scalp hair, Tibial bowing, Truncal obesity, Type II diabetes mellitus, Ulnar bowing, Underdeveloped nasal alae, Upslanted palpebral fissure, Wide nasal bridge
RG-div1	SNRPG	0.556336067	0	Ribonucleoprotein	Eurexp|euxassay_001471|cervical, cervico-thoracic, cortex, thoracic, thymus primordium, ventricular layer	OMIM|603542
RG-div1	RAD23A	0.554571869	0	DNA repair protein	BrainSpLMD|5886	OMIM|600061
RG-div1	MPP5	0.552670134	0	Unclassified	BrainSpLMD|64398	OMIM|606958
RG-div1	GGH	0.550830634	0	Enzyme: Hydrolase	BrainSpLMD|8836	OMIM|601509
RG-div1	HERPUD1	0.548551843	0	Integral membrane protein	BrainSpLMD|9709;Eurexp|euxassay_005097|clavicle, mandible, maxilla, olfactory, orbito-sphenoid	OMIM|608070;COSMIC||prostate
RG-div1	CBX5	0.545262994	0	DNA binding protein	BrainSpLMD|23468	OMIM|604478
RG-div1	RP11.192N10.2	0.543440015	0			
RG-div1	SHISA2	0.542776121	0	Integral membrane protein	BrainSpLMD|387914	OMIM|617324
RG-div1	HMGN5	0.542114396	0	Transcription regulatory protein	BrainSpLMD|79366;BrainSpMouseDev|30371	OMIM|300385
RG-div1	RP11.673C5.1	0.537499082	0			
RG-div1	G3BP1	0.537350206	0	RNA binding protein;Ribonuclease	BrainSpLMD|10146	OMIM|608431
RG-div1	SKA2	0.537006394	0	Unclassified	BrainSpLMD|348235;Eurexp|euxassay_007512|left lung, metanephros, olfactory, retina, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|616674
RG-div1	SUPT16H	0.535555059	0	Transcription factor	BrainSpLMD|11198;Eurexp|euxassay_019556|axial skeleton, dorsal grey horn, hindgut, incisor, lobe, lung, marginal layer, metanephros, midgut, olfactory, orbito-sphenoid, pancreas, phalanx, stomach, sublingual gland primordium, thymus primordium, urethra, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|77466	OMIM|605012
RG-div1	SCHIP1	0.532355307	0	Unclassified	BrainSpLMD|29970;Eurexp|euxassay_012101|aorta, bladder, brain, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, mantle layer, mesenchyme, metanephros, midgut, molar, neural retina, oesophagus, olfactory, pancreas, primitive seminiferous tubules, spinal cord, stomach, submandibular gland primordium, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vomeronasal organ	
RG-div1	DCAF16	0.530202529	0	Unclassified	BrainSpLMD|54876	
RG-div1	GSTP1	0.528860465	0	Enzyme: Glutathione transferase	BrainSpLMD|2950;Eurexp|euxassay_006221|lobe	OMIM|134660
RG-div1	LDHA	0.528762497	0	Enzyme: Dehydrogenase	BrainSpLMD|3939	OMIM|150000;HPO|3939|Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise intolerance, Increased serum lactate, Increased serum pyruvate, Juvenile onset, Muscle cramps, Muscle stiffness, Myalgia, Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Rigidity
RG-div1	GAPDH	0.528116783	0	Enzyme: Dehydrogenase		OMIM|138400
RG-div1	IFT22	0.526945751	0	GTPase	BrainSpLMD|64792	
RG-div1	LRRC58	0.52139734	0	Unclassified		
RG-div1	HMGN3	0.519575197	0	DNA binding protein	BrainSpLMD|9324;Eurexp|euxassay_010528|lens, olfactory;BrainSpMouseDev|60980	OMIM|604502
RG-div1	IMMP1L	0.517714059	0	Protease	BrainSpLMD|196294	OMIM|612323
RG-div1	CEP78	0.514836022	0	Unclassified		OMIM|617110;HPO|84131|Abnormal electroretinogram, Abnormality of cochlea, Astigmatism, Ataxia, Autosomal recessive inheritance, Cataract, Hemianopia, High-grade hypermetropia, Iris hypopigmentation, Macular degeneration, Nyctalopia, Nystagmus, Photophobia, Scotoma, Sensorineural hearing impairment, Vestibular hypofunction, Visual loss
RG-div1	ZAK	0.512564281	0			
RG-div1	EIF4E	0.512214635	0	Translation regulatory protein	BrainSpLMD|1977	SFARI||Autism, 4 - Minimal evidence;OMIM|133440
RG-div1	CTNNA1	0.511909259	0	Cytoskeletal protein	BrainSpLMD|1495;Eurexp|euxassay_018188|embryo	OMIM|116805;HPO|1495|Autosomal dominant inheritance
RG-div1	EIF4EP2	0.510672871	0			
RG-div1	TRPS1	0.509182757	0	Transcription factor	BrainSpLMD|7227;Eurexp|euxassay_011487|axial skeleton, basioccipital bone, basisphenoid bone, bladder, clavicle, cornea, cricoid, diaphragm, dorsal grey horn, exoccipital bone, femur, humerus, knee, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, rib, skeletal muscle, sternum, stomach, submandibular gland primordium, thyroid, tongue, trachea, ureter, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|58142	OMIM|604386;HPO|7227|Abnormality of the nervous system, Abnormally low-pitched voice, Accelerated bone age after puberty, Aplasia/Hypoplasia of the mandible, Arthralgia, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Bone pain, Bulbous nose, Camptodactyly of finger, Carious teeth, Chin with horizontal crease, Clinodactyly of the 5th finger, Concave nail, Cone-shaped epiphyses of the middle phalanges of the hand, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphyses of the proximal phalanges of the hand, Cone-shaped epiphysis, Coxa magna, Deep philtrum, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Fine hair, Flat capital femoral epiphysis, Fragile nails, Frontal bossing, Generalized hypotonia, High palate, Hyperlordosis, Increased number of teeth, Infantile muscular hypotonia, Intellectual disability, Ivory epiphyses of the distal phalanges of the hand, Joint dislocation, Joint hyperflexibility, Leukonychia, Long philtrum, Long upper lip, Low-set, posteriorly rotated ears, Macrotia, Microdontia, Micrognathia, Multiple long-bone exostoses, Muscular hypotonia, Narrow palate, Osteoarthritis, Osteopenia, Pear-shaped nose, Pectus carinatum, Pes planus, Protruding ear, Recurrent respiratory infections, Redundant skin, Scapular winging, Scoliosis, Short distal phalanx of finger, Short finger, Short foot, Short metacarpal, Short metatarsal, Short palm, Short phalanx of finger, Short stature, Shortening of all phalanges of fingers, Slow-growing hair, Smooth philtrum, Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Sparse lateral eyebrow, Sparse scalp hair, Swelling of proximal interphalangeal joints, Thick eyebrow, Thin eyebrow, Thin nail, Thin upper lip vermilion, Triangular face, Underdeveloped nasal alae
RG-div1	CRIM1	0.508692986	0	Integral membrane protein	BrainSpLMD|51232;Eurexp|euxassay_014038|lens, mantle layer, physiological umbilical hernia, ventral grey horn, vibrissa	OMIM|606189
RG-div1	PA2G4	0.508578068	0	Transcription regulatory protein	BrainSpLMD|5036	OMIM|602145
RG-div1	CALD1	0.508529522	0	Cytoskeletal associated protein	BrainSpLMD|800	OMIM|114213
RG-div1	RAN	0.507733662	0	GTPase	BrainSpLMD|5901	OMIM|601179
RG-div1	SNHG6	0.506234721	0			OMIM|612215
RG-div1	EXOSC8	0.505506569	0	Ribonuclease	BrainSpLMD|11340	OMIM|606019;HPO|11340|Autosomal recessive inheritance, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Failure to thrive, Feeding difficulties, Global developmental delay, Hearing impairment, Hypoplasia of the corpus callosum, Muscle weakness, Respiratory failure, Spastic tetraparesis, Spinal muscular atrophy, Visual impairment
RG-div1	CNTRL	0.500332015	0	Unclassified	BrainSpLMD|11064;Eurexp|euxassay_016548|ventricular layer;BrainSpMouseDev|26666	OMIM|605496;COSMIC||MPN, NHL
RG-div1	SMAD5	0.497551292	0	Transcription regulatory protein	BrainSpLMD|4090;Eurexp|euxassay_019553|incisor, lung, mantle layer, metanephros, molar, saccule, spleen primordium, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|16899	OMIM|603110
RG-div1	LRP6	0.495135417	0	Structural protein	BrainSpLMD|4040;Eurexp|euxassay_018221|lung, nasal septum, otic capsule, submandibular gland primordium, trachea, vibrissa;BrainSpMouseDev|16744	OMIM|603507;HPO|4040|Agenesis of permanent teeth, Autosomal dominant inheritance, Hypoplasia of the maxilla, Microdontia, Micrognathia, Oligodontia
RG-div1	NFIA	0.493963198	0	Transcription factor	BrainSpLMD|4774;BrainSpMouseDev|17794	SFARI||Autism, 4 - Minimal evidence;OMIM|600727;HPO|4774|Agenesis of corpus callosum, Anteverted nares, Arnold-Chiari type I malformation, Broad face, Broad forehead, Cognitive impairment, Cutis marmorata, Generalized hypotonia, Global developmental delay, Hydronephrosis, Hypoplasia of the corpus callosum, Inguinal hernia, Intellectual disability, Low-set ears, Macrocephaly, Narrow mouth, Phenotypic variability, Renal hypoplasia, Seizures, Short chin, Short nose, Sporadic, Syringomyelia, Thin upper lip vermilion, Ventriculomegaly, Vesicoureteral reflux
RG-div1	SDCBP	0.492165032	0	Adapter molecule	BrainSpLMD|6386;Eurexp|euxassay_008333|naris, olfactory, respiratory	OMIM|602217
RG-div1	GK	0.489725837	0	Enzyme: Phosphotransferase	BrainSpLMD|2710	OMIM|300474;HPO|2710|Adrenal insufficiency, Adrenocortical hypoplasia, Coma, Downturned corners of mouth, Episodic vomiting, Frontal bossing, Global developmental delay, Hypertelorism, Hypertriglyceridemia, Hypoglycemia, Increased urinary glycerol, Intellectual disability, Ketoacidosis, Lethargy, Low-set ears, Metabolic acidosis, Muscular dystrophy, Myopathy, Osteoporosis, Pathologic fracture, Seizures, Short stature, Small for gestational age, Strabismus, X-linked dominant inheritance, X-linked recessive inheritance
RG-div1	DYNC2H1	0.487540925	0	Motor protein	Eurexp|euxassay_014017|olfactory, ventricular layer	OMIM|603297;HPO|79659|Abdominal distention, Abnormal pelvis bone ossification, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Brachydactyly, Cleft upper lip, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypoplasia of penis, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Narrow chest, Postaxial hand polydactyly, Renal hypoplasia, Respiratory insufficiency, Short foot, Short palm, Short ribs, Short thorax, Skeletal dysplasia, Urethrovaginal fistula, Uterus didelphys, Wide nose
RG-div1	CBL	0.487238923	0	Ubiquitin proteasome system protein	BrainSpLMD|867	OMIM|165360;COSMIC||AML, JMML, MDS;HPO|867|Aortic valve stenosis, Autosomal dominant inheritance, Bicuspid aortic valve, Cafe-au-lait spot, Cryptorchidism, Cubitus valgus, Deep philtrum, Delayed speech and language development, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Fine hair, Frontal bossing, Generalized hypotonia, Global developmental delay, Hypertelorism, Joint hypermobility, Joint laxity, Juvenile myelomonocytic leukemia, Long philtrum, Low-set ears, Macrotia, Mitral regurgitation, Pectus excavatum, Phenotypic variability, Posteriorly rotated ears, Ptosis, Short neck, Somatic mutation, Sparse hair, Thick vermilion border, Triangular face, Webbed neck, Wide intermamillary distance
RG-div1	HSPD1	0.484844225	0	Heat shock protein	BrainSpLMD|3329;BrainSpMouseDev|15285	OMIM|118190;HPO|3329|Apnea, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Choreoathetosis, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hyperreflexia, Impaired vibration sensation in the lower limbs, Intellectual disability, profound, Leukodystrophy, Lower limb muscle weakness, Lower limb spasticity, Neonatal onset, Nystagmus, Postnatal microcephaly, Progressive, Progressive spasticity, Seizures, Spastic gait, Spastic paraplegia, Strabismus, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
RG-div1	STIP1	0.482759531	0	Adapter molecule	BrainSpLMD|10963	OMIM|605063
RG-div1	ODF2	0.481182678	0	Motor protein	BrainSpLMD|4957	OMIM|602015
RG-div1	SELK	0.481053939	0			
RG-div1	CYCS	0.480376265	0	Enzyme: Oxidase	BrainSpLMD|54205;Eurexp|euxassay_000644|Meckel's cartilage, basal plate, calyces, chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, molar, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|123970;HPO|54205|Autosomal dominant inheritance, Thrombocytopenia
RG-div1	SCAF11	0.47792701	0	RNA binding protein	BrainSpLMD|9169;Eurexp|euxassay_014100|ventricle, ventricular layer	OMIM|603668
RG-div1	NUP155	0.473518929	0	Transport/cargo protein	BrainSpLMD|9631	OMIM|606694;HPO|9631|Atrial fibrillation, Atrial flutter, Autosomal recessive inheritance
RG-div1	LLNLF.187D8.1	0.469038257	0			
RG-div1	ZNF43	0.468601856	0	DNA binding protein	BrainSpLMD|7594	OMIM|603972
RG-div1	ATP1B2	0.467379121	0	ATPase	BrainSpLMD|482;Eurexp|euxassay_011653|lobe, pituitary, ventral grey horn, ventricular layer;BrainSpMouseDev|11718	OMIM|182331
RG-div1	ERBB2IP	0.467102632	0			
RG-div1	RFTN2	0.466863989	0	Unclassified	BrainSpLMD|130132	
RG-div1	ELMSAN1	0.464250619	0	DNA binding protein	BrainSpLMD|91748	
RG-div1	TOPBP1	0.464169872	0	Cell cycle control protein;Transcription regulatory protein	BrainSpLMD|11073	OMIM|607760
RG-div1	PHLDA1	0.463736525	0	Transcription factor	BrainSpLMD|22822;Eurexp|euxassay_008411|anterior, axial skeleton, bladder, cartilaginous ring, cornea, diaphragm, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, hepatic duct, hindgut, incisor, inner ear, left lung, liver, mantle layer, medulla, meninges, metanephros, midgut, molar, naso-lacrimal duct, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, right lung, skeletal muscle, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, tongue, trigeminal V, ureter, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|605335
RG-div1	CTBP2	0.463569582	0	Adapter molecule;Transcription regulatory protein	BrainSpLMD|1488;Eurexp|euxassay_012486|eyelid, incisor, lung, marginal layer, metanephros, midgut, molar, pancreas, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|12800	OMIM|602619
RG-div1	SYT11	0.463464565	0	Calcium binding protein	BrainSpLMD|23208	OMIM|608741
RG-div1	SREBF2	0.462731533	0	Transcription factor	BrainSpLMD|6721;BrainSpMouseDev|20550	OMIM|600481
RG-div1	RP11.386M24.4	0.462670672	0			
RG-div1	SRI	0.46060224	0	Calcium binding protein	BrainSpLMD|6717	OMIM|182520
RG-div1	PIGF	0.458229419	0	Enzyme: Transferase	BrainSpLMD|5281;Eurexp|euxassay_006965|pancreas, stomach	OMIM|600153
RG-div1	ATXN7	0.457541871	0	Unclassified	BrainSpLMD|6314;Eurexp|euxassay_007505|alimentary system, cardiovascular system, cavities and their linings, ganglion, gland, integumental system, limb, mantle layer, mesenchyme, nerve, peripheral nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system	SFARI||Autism, 5 - Hypothesized but untested;OMIM|607640;HPO|6314|Abnormality of extrapyramidal motor function, Autosomal dominant inheritance, Babinski sign, Chorea, Dysmetria, Dysphagia, Genetic anticipation with paternal anticipation bias, Macular degeneration, Olivopontocerebellar atrophy, Orofacial dyskinesia, Pigmentary retinal degeneration, Progressive visual loss, Slow saccadic eye movements, Spasticity, Supranuclear ophthalmoplegia
RG-div1	TSPAN6	0.457505142	0	Cell surface receptor	BrainSpLMD|7105;Eurexp|euxassay_004870|incisor, mandible, maxilla, molar	OMIM|300191
RG-div1	KIF5B	0.457106374	0	Motor protein	BrainSpLMD|3799;Eurexp|euxassay_019750|olfactory	OMIM|602809;COSMIC||NSCLC, Spitzoid tumour
RG-div1	SRSF10	0.456615322	0	RNA binding protein	Eurexp|euxassay_000064|adenohypophysis, cardiac muscle, endocardial lining, limb, vertebral axis muscle system	OMIM|605221
RG-div1	HSPB1	0.456424443	0	Chaperone	BrainSpLMD|3315	OMIM|602195;HPO|3315|Adult onset, Areflexia, Areflexia of lower limbs, Autosomal dominant inheritance, Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Difficulty walking, Distal amyotrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Distal sensory impairment, EMG: chronic denervation signs, EMG: neuropathic changes, Fasciculations, Foot dorsiflexor weakness, Heterogeneous, Hyporeflexia, Hyporeflexia of lower limbs, Impaired pain sensation, Impaired temperature sensation, Limb fasciculations, Lower limb muscle weakness, Muscle cramps, Paresis of extensor muscles of the big toe, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Reduced tendon reflexes, Slow progression, Split hand, Steppage gait, Talipes equinovarus, Ulnar claw, Upper limb amyotrophy
RG-div1	FAT1	0.446377961	0	Adhesion molecule	BrainSpLMD|2195;Eurexp|euxassay_013462|axial skeleton, lung, mandible, maxilla, mesenchyme, rest of mesenchyme, sternum, submandibular gland primordium, vibrissa;BrainSpMouseDev|13884	SFARI||Autism, No category;OMIM|600976;COSMIC||oral squamous cell, chemorefractory CLL, head and neck, pancreatic acinar cell carcinoma, pancreatic
RG-div1	RHOA	0.4445548	0	GTPase	BrainSpLMD|387;BrainSpMouseDev|11635	OMIM|165390;COSMIC||diffuse gastric, T cell lymphomas, paediatric Burkitt lymphoma
RG-div1	HSP90B1	0.443594235	0	Heat shock protein	BrainSpLMD|7184;Eurexp|euxassay_000099|body-wall mesenchyme, dermis, epidermis, nucleus pulposus	OMIM|191175
RG-div1	NBPF9	0.441241375	0	Unclassified		OMIM|613999
RG-div1	DLG1	0.440646246	0	Cell junction protein	BrainSpLMD|1739;Eurexp|euxassay_005262|adrenal gland, lung	SFARI||Autism, No category;OMIM|601014
RG-div1	BRD8	0.440160517	0	Transcription regulatory protein	BrainSpLMD|10902;Eurexp|euxassay_019636|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	OMIM|602848
RG-div1	TSPAN5	0.438818859	0	Integral membrane protein	BrainSpLMD|10098	OMIM|613136
RG-div1	IMPDH2	0.438700998	0	Enzyme: Dehydrogenase	BrainSpLMD|3615	OMIM|146691
RG-div1	NUP214	0.436574035	0	Transport/cargo protein	BrainSpLMD|8021	OMIM|114350;COSMIC||AML, T-ALL;HPO|8021|Acute lymphoblastic leukemia, Polygenic inheritance
RG-div1	FGFR1	0.436047447	0	Receptor tyrosine kinase	BrainSpLMD|2260;BrainSpMouseDev|13959	OMIM|136350;COSMIC||MPN, NHL, salivary adenoma, Pfeiffer syndrome, Kallman syndrome;HPO|2260|2-3 toe syndactyly, Abnormal form of the vertebral bodies, Abnormality of body height, Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Abnormality of the clavicle, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Absent septum pellucidum, Agenesis of corpus callosum, Alopecia, Anosmia, Anterior hypopituitarism, Anterior pituitary hypoplasia, Anteverted nares, Anxiety, Aphasia, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Arachnoid cyst, Arnold-Chiari malformation, Atrial septal defect, Autosomal dominant inheritance, Bicoronal synostosis, Bimanual synkinesia, Bone cyst, Bowing of the long bones, Brachycephaly, Brachyturricephaly, Breast hypoplasia, Broad foot, Broad hallux, Broad hallux phalanx, Broad metacarpals, Broad metatarsal, Broad palm, Broad phalanx, Broad thumb, Bronchomalacia, Calcaneonavicular fusion, Capillary hemangiomas, Cartilaginous trachea, Cerebellar hypoplasia, Cerebral calcification, Cerebral cortical atrophy, Choanal atresia, Choanal stenosis, Chordee, Cleft eyelid, Cleft palate, Cleft upper lip, Cloverleaf skull, Corneal opacity, Coronal craniosynostosis, Cortical dysplasia, Craniofacial hyperostosis, Craniosynostosis, Cryptorchidism, Dandy-Walker malformation, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Depressivity, Diabetes insipidus, Downslanted palpebral fissures, Dysphasia, Echolalia, Ectrodactyly, Elbow ankylosis, Encephalocele, Epibulbar dermoid, Epicanthus, Erectile abnormalities, Eunuchoid habitus, Failure to thrive, Failure to thrive in infancy, Female hypogonadism, Finger syndactyly, Frontal bossing, Global developmental delay, Gonadotropin deficiency, Gynecomastia, Hallux varus, Hemiplegia/hemiparesis, Heterogeneous, High forehead, High palate, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hypernatremia, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the frontal bone, Hypoplasia of the iris, Hypoplasia of the maxilla, Hypoplasia of the ovary, Hypoplasia of the uterus, Hypoplastic scapulae, Hypoplastic toenails, Hyposmia, Hypospadias, Hypotelorism, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Incomplete penetrance, Increased female libido, Increased susceptibility to fractures, Inguinal hernia, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Limb undergrowth, Linear hyperpigmentation, Lipodystrophy, Lipoma, Lipomas of the central neryous system, Lobar holoprosencephaly, Long penis, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hemivertebrae, Macrocephaly, Malar flattening, Male hypogonadism, Mandibular prognathia, Meckel diverticulum, Microcephaly, Microdontia, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Multiple lipomas, Multiple unerupted teeth, Muscle stiffness, Mutism, Nasal obstruction, Neonatal hypotonia, Neoplasm of the skeletal system, Nevus flammeus, Non-midline cleft lip, Non-obstructive azoospermia, Nystagmus, Oligodontia, Omphalocele, Osteolysis, Osteopenia, Osteoporosis, Pelvic kidney, Peripheral pulmonary artery stenosis, Platyspondyly, Posteriorly rotated ears, Preauricular skin tag, Primary amenorrhea, Prominent supraorbital ridges, Proptosis, Protruding ear, Pseudoarthrosis, Ptosis, Pulmonary arterial hypertension, Reduced bone mineral density, Reduced number of teeth, Respiratory distress, Respiratory insufficiency, Retinopathy, Rhizomelia, Rigidity, Sclerocornea, Secondary amenorrhea, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Severe short stature, Shallow orbits, Short foot, Short hallux, Short metacarpal, Short metatarsal, Short middle phalanx of toe, Short neck, Short nose, Short palm, Short phalanx of finger, Short stature, Shortening of all middle phalanges of the fingers, Somatic mosaicism, Sparse body hair, Spasticity, Split hand, Sporadic, Strabismus, Subcortical cerebral atrophy, Subcutaneous lipoma, Subcutaneous nodule, Subvalvular aortic stenosis, Syndactyly, Synophrys, Telecanthus, Toe syndactyly, Tricuspid valve prolapse, Trigonocephaly, Unerupted tooth, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide intermamillary distance, Wide nasal bridge, Wide nose, Xanthomatosis
RG-div1	QKI	0.435322885	0	RNA binding protein	BrainSpLMD|9444;Eurexp|euxassay_012259|diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, lens, lung, mandible, mantle layer, marginal layer, maxilla, meninges, midgut, neural retina, orbito-sphenoid, petrous part, skeletal muscle, stomach, submandibular gland primordium, turbinate, vault of skull, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|609590;COSMIC||angiocentric glioma, colorectal cancer
RG-div1	SESN3	0.433252504	0	Cell cycle control protein	BrainSpLMD|143686	OMIM|607768
RG-div1	NT5DC2	0.430217293	0	Unclassified	BrainSpLMD|64943;Eurexp|euxassay_009884|axial muscle, bladder, choroid plexus, cortex, lung, mandible, mantle layer, maxilla, neural retina, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, thyroid, turbinate bones, vault of skull, ventricular layer	
RG-div1	CSTF1	0.428073651	0	RNA binding protein	BrainSpLMD|1477	OMIM|600369
RG-div1	SF1	0.424456218	0	RNA binding protein	BrainSpLMD|7536	OMIM|601516
RG-div1	TPR	0.423410919	0	Unclassified	BrainSpLMD|7175;Eurexp|euxassay_012642|cortex, incisor, lobe, molar, olfactory, testis, thymus primordium, ventricular layer, vibrissa	OMIM|189940;COSMIC||papillary thyroid, NSCLC
RG-div1	GOLIM4	0.423307068	0	Integral membrane protein	BrainSpLMD|27333	OMIM|606805
RG-div1	B2M	0.422955661	0	MHC complex protein	BrainSpLMD|567	OMIM|109700;COSMIC||DLBCL, melanoma, colorectal adenocarcinoma, Immunodeficiency 43;HPO|567|Autonomic bladder dysfunction, Autonomic dysregulation, Autosomal dominant inheritance, Autosomal recessive inheritance, Bowel incontinence, Bronchiectasis, Cholestasis, Chronic constipation, Chronic diarrhea, Edema, Gastrointestinal dysmotility, Gastrointestinal hemorrhage, Generalized amyloid deposition, Hematuria, Hepatomegaly, Hypertension, Hypoalbuminemia, Hypoplasia of the ulna, Hypoproteinemia, IgG deficiency, Intermittent diarrhea, Keratoconjunctivitis sicca, Malabsorption, Nephropathy, Nephrotic syndrome, Orthostatic hypotension due to autonomic dysfunction, Proteinuria, Radial bowing, Recurrent respiratory infections, Skin rash, Splenomegaly, Variable expressivity, Vertigo, Weight loss, Xerostomia
RG-div1	CHD1	0.422666269	0	DNA binding protein	BrainSpLMD|1105	OMIM|602118
RG-div1	HMGCS1	0.420883018	0	Enzyme: Synthase	BrainSpLMD|3157	OMIM|142940
RG-div1	RPS27L	0.420317918	0	Unclassified	BrainSpLMD|51065;Eurexp|euxassay_013950|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, pancreas, primitive seminiferous tubules, rest of mesenchyme, right lung, skeletal muscle, submandibular gland primordium, thymus primordium, tongue, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|612055
RG-div1	ENO1	0.418716387	0	Enzyme: Hydratase	BrainSpLMD|2023	OMIM|172430
RG-div1	PTPRZ1	0.417815363	0	Receptor tyrosine phosphatase	BrainSpLMD|5803;BrainSpMouseDev|19046	OMIM|176891
RG-div1	CNBP	0.417490445	0	RNA binding protein	BrainSpLMD|7555	OMIM|116955;COSMIC||aneurysmal bone cyst;HPO|7555|Autosomal dominant inheritance, Cataract, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, Elevated serum creatine phosphokinase, Frontal balding, Hypogonadism, IgG deficiency, IgM deficiency, Insulin insensitivity, Iridescent posterior subcapsular cataract, Myalgia, Myotonia, Neck flexor weakness, Oligospermia, Palpitations, Proximal muscle weakness, Tachycardia, Type 2 muscle fiber atrophy
RG-div1	IRF2BP2	0.41116805	0	Transcription regulatory protein	BrainSpLMD|359948	OMIM|615332
RG-div1	FAF2	0.405971632	0	Unclassified	BrainSpLMD|23197;Eurexp|euxassay_007868|embryo	OMIM|616935
RG-div1	WDR35	0.405160549	0	Unclassified	BrainSpLMD|57539	OMIM|613602;HPO|57539|Abdominal distention, Abnormal diaphysis morphology, Abnormal pelvis bone ossification, Abnormal toenail morphology, Abnormality of cardiovascular system morphology, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormality of the pinna, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Anteverted nares, Autosomal recessive inheritance, Blepharophimosis, Bowing of the long bones, Brachydactyly, Cleft upper lip, Congenital hepatic fibrosis, Craniosynostosis, Cryptorchidism, Cystic hygroma, Depressed nasal bridge, Disproportionate short-limb short stature, Dolichocephaly, Ectodermal dysplasia, Epicanthus, Everted lower lip vermilion, Finger syndactyly, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypertelorism, Hypodontia, Hypoplasia of penis, Hypoplastic scapulae, Hypospadias, Hypotelorism, Inguinal hernia, Joint hyperflexibility, Joint laxity, Lethal skeletal dysplasia, Long philtrum, Low-set ears, Macrocephaly, Microdontia, Micrognathia, Micromelia, Narrow chest, Osteoporosis, Pectus excavatum, Polycystic kidney dysplasia, Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Prominent occiput, Pulmonary hypoplasia, Renal cyst, Renal hypoplasia, Respiratory insufficiency, Rhizomelia, Short distal phalanx of finger, Short foot, Short long bone, Short neck, Short palm, Short ribs, Short thorax, Sparse hair, Syndactyly, Telecanthus, Thoracic dysplasia, Urethrovaginal fistula, Uterus didelphys, Wide nose, Widely spaced teeth
RG-div1	HIST1H3C	0.405151373	0	DNA binding protein	BrainSpLMD|8352	OMIM|602812
RG-div1	YBX3	0.404451832	0	DNA binding protein	BrainSpLMD|8531	OMIM|603437
RG-div1	FABP7	0.403421861	0	Transport/cargo protein	BrainSpLMD|2173;Eurexp|euxassay_000474|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, rest of cerebellum, trigeminal V, ventral grey horn, ventricular layer	SFARI||Autism, 6 - Evidence does not support role;OMIM|602965
RG-div1	ZBTB20	0.402741824	0	Transcription factor	BrainSpLMD|26137;BrainSpMouseDev|35770	SFARI||Autism, 3 - Suggestive evidence;OMIM|606025;HPO|26137|Abnormality of the palate, Absent axillary hair, Absent facial hair, Anemia, Anonychia, Autosomal dominant inheritance, Basilar impression, Bilateral cryptorchidism, Bone cyst, Brachycephaly, Broad forehead, Calcification of the auricular cartilage, Cataract, Conductive hearing impairment, Deeply set eye, Developmental regression, Distal amyotrophy, Downslanted palpebral fissures, Downturned corners of mouth, Gait disturbance, Generalized hypotonia, Generalized osteoporosis, Genu valgum, Gynecomastia, Hearing impairment, Hip contracture, Hydrocephalus, Hypogonadism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Increased size of the mandible, Intellectual disability, Irregular vertebral endplates, Knee flexion contracture, Kyphosis, Macrocephaly, Macrotia, Malar flattening, Metatarsus adductus, Midface retrusion, Myopathy, Narrow chest, Narrow iliac wings, Narrow mouth, Neurodegeneration, Osteolysis, Pectus excavatum, Pes cavus, Plagiocephaly, Posterior polar cataract, Posterior scalloping of vertebral bodies, Ptosis, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Sparse scalp hair, Sporadic, Superiorly displaced ears, Synophrys, Thick lower lip vermilion, Truncal obesity
RG-div1	HMGXB4	0.401105923	0	DNA binding protein	BrainSpLMD|10042;BrainSpMouseDev|46664	OMIM|604702
RG-div1	THBS3	0.400556689	0	Extracellular matrix protein	BrainSpLMD|7059;Eurexp|euxassay_010545|brain, mesenchyme, spinal cord;BrainSpMouseDev|21586	OMIM|188062
RG-div1	DCLRE1C	0.397645159	0	Deoxyribonuclease	BrainSpLMD|64421	OMIM|605988;HPO|64421|Abnormality of lymphocytes, Absent tonsils, Alopecia, Anemia, Aplasia of the thymus, Aplasia/Hypoplasia of the eyebrow, Autosomal recessive inheritance, B lymphocytopenia, Chronic diarrhea, Desquamation of skin soon after birth, Diarrhea, Dry skin, Edema, Eosinophilia, Erythroderma, Failure to thrive, Fever, Genital ulcers, Hepatomegaly, Hypoplasia of the thymus, Hypoproteinemia, Lymph node hypoplasia, Lymphadenopathy, Oral ulcer, Otitis media, Panhypogammaglobulinemia, Phenotypic variability, Pneumonia, Pruritus, Recurrent bacterial infections, Recurrent fungal infections, Recurrent upper respiratory tract infections, Recurrent viral infections, Severe B lymphocytopenia, Severe combined immunodeficiency, Splenomegaly, Thickened skin, Thrombocytopenia
RG-div1	PSME2P2	0.397222394	0			
RG-div1	PPP1R12A	0.396976539	0	Regulatory/other subunit	BrainSpLMD|4659	OMIM|602021
RG-div1	SRGAP2B	0.395977572	0			OMIM|614703
RG-div1	CCNL1	0.394942263	0	RNA binding protein	BrainSpLMD|57018	OMIM|613384
RG-div1	COPS8	0.393941197	0	Regulatory/other subunit	BrainSpLMD|10920	OMIM|616011
RG-div1	ASAP1	0.391142238	0	GTPase activating protein	BrainSpLMD|50807	OMIM|605953
RG-div1	TMTC2	0.39023675	0	Integral membrane protein	BrainSpLMD|160335;Eurexp|euxassay_011308|axial skeleton, bladder, brain, capsule, clavicle, cornea, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, hindgut, mandible, maxilla, midgut, oesophagus, olfactory, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, rib, skeletal muscle, spinal cord, stomach, tibia, trigeminal V, ureter, vagus X, valve, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|615856
RG-div1	MSH5	0.390221498	0	DNA binding protein;Cell cycle control protein	BrainSpLMD|4439	OMIM|603382;HPO|4439|Autosomal recessive inheritance, Oligomenorrhea
RG-div1	C9orf72	0.390121651	0	Unclassified	BrainSpLMD|203228;Eurexp|euxassay_010754|anterior, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, molar, olfactory, trigeminal V, vagus X	OMIM|614260;HPO|203228|Abnormal brain FDG positron emission tomography, Abnormal lower motor neuron morphology, Abnormality of the cerebral white matter, Adult onset, Aggressive behavior, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apathy, Apraxia, Autosomal dominant inheritance, Cerebral atrophy, Collectionism, Delusions, Depressivity, Disinhibition, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, Dyspnea, EEG with continuous slow activity, Echolalia, Emotional blunting, Emotional lability, Extrapyramidal dyskinesia, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontotemporal cerebral atrophy, Frontotemporal dementia, Generalized muscle weakness, Gliosis, Grammar-specific speech disorder, Hallucinations, Hyperorality, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Muscle cramps, Muscle weakness, Neurodegeneration, Neuronal loss in central nervous system, Pain, Paralysis, Paraparesis, Parkinsonism, Perseveration, Personality changes, Poor speech, Rapidly progressive, Respiratory failure, Restlessness, Restrictive behavior, Skeletal muscle atrophy, Spasticity, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Tetraparesis, Thickened nuchal skin fold, Xerostomia
RG-div1	ZNF83	0.387687796	0	DNA binding protein	BrainSpLMD|55769	OMIM|194558
RG-div1	ANKRD40	0.385386731	0	Unclassified	BrainSpLMD|91369	
RG-div1	EZH2	0.383164953	0	Transcription regulatory protein	BrainSpLMD|2146	OMIM|601573;COSMIC||DLBCL;HPO|2146|Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Absent septum pellucidum, Accelerated skeletal maturation, Autosomal dominant inheritance, Behavioral abnormality, Broad foot, Broad forehead, Broad thumb, Calcaneovalgus deformity, Camptodactyly, Camptodactyly of finger, Clinodactyly, Coxa valga, Cryptorchidism, Cutis laxa, Deep philtrum, Deep-set nails, Delayed speech and language development, Depressed nasal bridge, Diastasis recti, Dilation of lateral ventricles, Dimple chin, Downslanted palpebral fissures, Dysarthria, Dysharmonic bone age, Epicanthus, Feeding difficulties in infancy, Fine hair, Flared femoral metaphysis, Flared humeral metaphysis, Generalized hypotonia, Global developmental delay, Hoarse voice, Hydrocele testis, Hypertelorism, Hypertonia, Hypoplastic iliac wing, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Inverted nipples, Joint contracture of the hand, Joint stiffness, Kyphosis, Large hands, Limited elbow extension, Limited knee extension, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Mandibular prognathia, Metatarsus adductus, Micrognathia, Overlapping toe, Pes cavus, Prominent fingertip pads, Radial deviation of finger, Redundant skin, Retrognathia, Round face, Scoliosis, Seizures, Short fourth metatarsal, Short ribs, Slurred speech, Sparse hair, Spasticity, Strabismus, Talipes equinovarus, Tall stature, Thin nail, Umbilical hernia
RG-div1	PLEKHA7	0.382060079	0	Unclassified	BrainSpLMD|144100;Eurexp|euxassay_009322|atrium, diaphragm, incisor, molar, olfactory, pharyngo-tympanic tube, respiratory, skeletal muscle, submandibular gland primordium, thymus primordium, ventricle, ventricular layer, vertebral axis muscle system	OMIM|612686
RG-div1	HP1BP3	0.380926622	0	DNA binding protein	BrainSpLMD|50809	OMIM|616072
RG-div1	AEBP2	0.38087216	0	DNA binding protein	BrainSpLMD|121536;Eurexp|euxassay_014332|footplate, handplate, thymus primordium, ventricular layer;BrainSpMouseDev|11356	
RG-div1	RP11.488L18.10	0.37926005	0			
RG-div1	HNRNPUL1	0.378278523	0	RNA binding protein	BrainSpLMD|11100	OMIM|605800
RG-div1	LINC00632	0.377826575	0			
RG-div1	VCAN	0.376257271	0	Extracellular matrix protein	BrainSpLMD|1462	OMIM|118661;HPO|1462|Autosomal dominant inheritance, Cataract, Chorioretinal atrophy, Glaucoma, Myopia, Optic atrophy, Optically empty vitreous, Peripheral traction retinal detachment, Retinal pigment epithelial atrophy, Visual field defect, Visual loss, Vitreoretinal degeneration
RG-div1	HNRNPA2B1	0.375435159	0	Ribonucleoprotein;RNA binding protein	BrainSpLMD|3181	OMIM|600124;COSMIC||prostate;HPO|3181|Abnormality of the skeletal system, Behavioral abnormality, Centrally nucleated skeletal muscle fibers, Elevated serum creatine phosphokinase, Frontotemporal dementia, Muscle fiber atrophy, Muscular dystrophy, Myopathy, Myositis, Skeletal muscle atrophy
RG-div1	CCDC34	0.371205792	0	Unclassified	BrainSpLMD|91057	OMIM|612324
RG-div1	ABAT	0.370734322	0	Enzyme: Aminotransferase	BrainSpLMD|18;Eurexp|euxassay_001907|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, thymus primordium, trigeminal V, ventricular layer;BrainSpMouseDev|92603	SFARI||Autism, 4 - Minimal evidence;OMIM|137150;HPO|18|Agenesis of corpus callosum, Autosomal recessive inheritance, Cerebellar hypoplasia, Death in childhood, Downslanted palpebral fissures, Global developmental delay, High-pitched cry, Hyperreflexia, Lethargy, Leukodystrophy, Posterior fossa cyst, Retrognathia, Seizures, Severe muscular hypotonia, Tall stature
RG-div1	VEZF1	0.370494304	0	Transcription factor	BrainSpLMD|7716	OMIM|606747
RG-div1	VGLL4	0.369685314	0	Transcription regulatory protein	BrainSpLMD|9686;Eurexp|euxassay_000238|incisor, lung, molar, submandibular gland primordium, vibrissa	
RG-div1	MSI2	0.368869575	0	RNA binding protein	BrainSpLMD|124540	OMIM|607897;COSMIC||CML
RG-div1	TSC22D2	0.367748043	0	Unclassified	BrainSpLMD|9819	OMIM|617724
RG-div1	BANF1	0.365783547	0	DNA binding protein	BrainSpLMD|8815	OMIM|603811;HPO|8815|Abnormality of the forearm, Abnormality of the ribs, Atherosclerosis, Autosomal recessive inheritance, Convex nasal ridge, Delayed closure of the anterior fontanelle, Dental crowding, Failure to thrive, Flexion contracture, Joint stiffness, Lipoatrophy, Malar flattening, Micrognathia, Midface retrusion, Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Progressive clavicular acroosteolysis, Proptosis, Pulmonary arterial hypertension, Right bundle branch block, Scoliosis, Short stature, Sinus tachycardia, Sparse and thin eyebrow, Sparse eyelashes, Spotty hyperpigmentation, Wide cranial sutures
RG-div1	SYNE2	0.361205753	0	Cytoskeletal protein	BrainSpLMD|23224;Eurexp|euxassay_010927|cochlea, metanephros, pericardial cavity, peritoneal cavity, renal/urinary system, utricle, ventricular layer	OMIM|608442;HPO|23224|Arrhythmia, Autosomal dominant inheritance, Cardiomyopathy, Childhood onset, Elevated serum creatine phosphokinase, Muscular dystrophy, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Respiratory insufficiency
RG-div1	DARS	0.358751077	0	ATPase	BrainSpLMD|1615	OMIM|603084;HPO|1615|Autosomal recessive inheritance, Babinski sign, CNS hypomyelination, Hyperreflexia, Hypoplasia of the corpus callosum, Infantile onset, Leukoencephalopathy, Motor delay, Muscular hypotonia of the trunk, Nystagmus, Progressive, Spasticity
RG-div1	TLK1	0.354516884	0	Serine/threonine kinase	BrainSpLMD|9874	OMIM|608438
RG-div1	NUP50	0.352143431	0	Transport/cargo protein	BrainSpLMD|10762	OMIM|604646
RG-div1	CLDND1	0.350834165	0	Unclassified	BrainSpLMD|56650;Eurexp|euxassay_006238|embryo	
RG-div1	DLEU2	0.348415813	0	Unclassified	BrainSpLMD|8847	OMIM|605766
RG-div1	ALDOA	0.346942174	0	Enzyme: Lyase;Enzyme: Aldolase	BrainSpLMD|226	OMIM|103850;HPO|226|Autosomal recessive inheritance, Cholecystitis, Cholelithiasis, Delayed puberty, Epicanthus, Jaundice, Low posterior hairline, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Ptosis, Short neck, Short stature, Splenomegaly
RG-div1	BAI3	0.346864343	0			
RG-div1	FGD5.AS1	0.3460524	0			
RG-div1	PSME1	0.344047279	0	Ubiquitin proteasome system protein	BrainSpLMD|5720	OMIM|600654
RG-div1	IL6ST	0.342670506	0	Cytokine receptor	BrainSpLMD|3572;BrainSpMouseDev|15968	OMIM|600694;COSMIC||hepatocellular carcinoma
RG-div1	NBPF15	0.339086536	0	Unclassified		OMIM|614005
RG-div1	FKBP9	0.337809911	0	Chaperone	BrainSpLMD|11328;Eurexp|euxassay_007465|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, metatarsus, nasal septum, nucleus pulposus, orbito-sphenoid, otic capsule, phalanx, radius, rib, sternum, temporal bone, thyroid, tibia, turbinate, ulna, vault of skull	OMIM|616257;COSMIC||glioma
RG-div1	IGF2BP3	0.334544167	0	Translation regulatory protein	BrainSpLMD|10643;Eurexp|euxassay_006316|embryo	OMIM|608259
RG-div1	RBMX	0.333211132	0	RNA binding protein		OMIM|300199;HPO|27316|Blepharophimosis, Bulbous nose, Coarse facial features, Intellectual disability, moderate, Macroorchidism, Macrotia, Obesity, Periorbital fullness, Prominent supraorbital ridges, Specific learning disability, Thick lower lip vermilion, X-linked recessive inheritance
RG-div1	MORF4L2	0.332246169	0	Transcription regulatory protein	BrainSpLMD|9643;Eurexp|euxassay_007035|embryo	OMIM|300409
RG-div1	RPRD1B	0.331430115	0	Unclassified	BrainSpLMD|58490	OMIM|614694
RG-div1	TRIM24	0.330459818	0	Transcription regulatory protein	BrainSpLMD|8805;Eurexp|euxassay_009747|mantle layer, olfactory, ventricular layer;BrainSpMouseDev|21607	OMIM|603406;COSMIC||APL;HPO|8805|Autosomal dominant inheritance, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma
RG-div1	FAM171B	0.330399233	0	Integral membrane protein	BrainSpLMD|165215;Eurexp|euxassay_008581|dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, ventricular layer, vestibulocochlear VIII	
RG-div1	SNHG1	0.328475235	0			OMIM|603222
RG-div1	MIER1	0.325987058	0	Transcription regulatory protein	BrainSpLMD|57708	OMIM|616848
RG-div1	ZFX	0.325806748	0	Transcription factor	BrainSpLMD|7543	OMIM|314980
RG-div1	ZBTB21	0.322619271	0	Transcription regulatory protein	BrainSpLMD|49854	OMIM|616485
RG-div1	CD164	0.319837106	0	Adhesion molecule	Eurexp|euxassay_019262|epithelium, incisor, lung, molar, nucleus pulposus, olfactory, orbito-sphenoid, pancreas, pituitary, skeletal muscle, thymus primordium, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|32917	OMIM|603356;HPO|8763|Autosomal dominant inheritance, Sensorineural hearing impairment, Variable expressivity
RG-div1	CALU	0.317749883	0	Calcium binding protein	BrainSpLMD|813	OMIM|603420
RG-div1	SPAG9	0.314861982	0	Integral membrane protein	BrainSpLMD|9043;Eurexp|euxassay_014482|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vestibulocochlear VIII	OMIM|605430
RG-div1	ANKRD32	0.312911805	0			
RG-div1	SETBP1	0.311737866	0	Transcription regulatory protein	BrainSpLMD|26040	SFARI||Autism, 3 - Suggestive evidence;OMIM|611060;COSMIC||aCML, sAML, MDS/MPN-U, CMML, JMML, neuroepithelial tumours;HPO|26040|Abnormality of the nasopharynx, Absent speech, Anteverted nares, Aplasia/Hypoplasia of the pubic bone, Atrial septal defect, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bicornuate uterus, Brachycephaly, Broad ribs, Cerebral atrophy, Choanal stenosis, Coarse facial features, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Facial hemangioma, Failure to thrive, Hepatoblastoma, High forehead, High palate, Hydronephrosis, Hydroureter, Hyperconvex nail, Hypertelorism, Hypertrichosis, Hypoplasia of first ribs, Hypoplasia of the corpus callosum, Hypoplastic labia majora, Hypoplastic labia minora, Hypoplastic nipples, Hypospadias, Hypsarrhythmia, Increased density of long bones, Intellectual disability, Long clavicles, Long face, Low-set ears, Macroglossia, Malar flattening, Metopic suture patent to nasal root, Micropenis, Midface retrusion, Motor delay, Narrow palate, Opisthotonus, Pointed chin, Postaxial hand polydactyly, Postnatal growth retardation, Prominent forehead, Ptosis, Sacrococcygeal teratoma, Sclerosis of skull base, Scrotal hypoplasia, Seizures, Shallow orbits, Short 1st metacarpal, Short distal phalanx of finger, Short neck, Short nose, Short sternum, Single transverse palmar crease, Sloping forehead, Synophrys, Talipes equinovarus, Thickened cortex of long bones, Thin upper lip vermilion, Tibial bowing, Ureteral stenosis, Ventriculomegaly, Wide distal femoral metaphysis, Widely patent fontanelles and sutures, Wormian bones
RG-div1	PRKD1	0.311415558	0	Serine/threonine kinase	BrainSpLMD|5587	SFARI||Autism, No category;OMIM|605435;HPO|5587|Autosomal dominant inheritance, Broad thumb, Delayed speech and language development, Depressed nasal bridge, Dry skin, Feeding difficulties, Fragile nails, Generalized hypotonia, Global developmental delay, Microcephaly, Microdontia, Nystagmus, Premature loss of primary teeth, Prominent forehead, Prominent nasal bridge, Scoliosis, Sparse scalp hair, Syndactyly, Thin skin, Widely spaced teeth
RG-div1	PPIG	0.306397283	0	Enzyme: Isomerase	BrainSpLMD|9360	OMIM|606093
RG-div1	SRP9	0.299995923	0	RNA binding protein		OMIM|600707
RG-div1	KPNB1	0.297679006	0	Transport/cargo protein	BrainSpLMD|3837;Eurexp|euxassay_006809|embryo	OMIM|602738
RG-div1	SOX1	0.296563851	0	Transcription factor	BrainSpLMD|6656;Eurexp|euxassay_019565|ventral grey horn, ventricular layer	OMIM|602148
RG-div1	LARP7	0.294729345	0	Unclassified	BrainSpLMD|51574;Eurexp|euxassay_006535|embryo	OMIM|612026;HPO|51574|Autosomal recessive inheritance, Decreased body weight, Deeply set eye, Depressed nasal bridge, Global developmental delay, Intellectual disability, severe, Low-set ears, Malar flattening, Microcephaly, Scoliosis, Severe short stature, Short philtrum, Thick vermilion border, Wide mouth, Wide nasal bridge, Wide nose
RG-div1	PEG10	0.294714978	0	Cell cycle control protein	BrainSpLMD|23089;BrainSpMouseDev|81989	OMIM|609810
RG-div1	MAPK1IP1L	0.292305716	0	Unclassified	BrainSpLMD|93487	OMIM|617226
RG-div1	ILF2	0.290430382	0	Transcription factor	BrainSpLMD|3608;Eurexp|euxassay_003141|cervical, cervico-thoracic, chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, submandibular gland primordium, thoracic, trigeminal V, vestibulocochlear VIII, vibrissa	SFARI||Autism, 2 - Strong candidate;OMIM|603181
RG-div1	PRKRA	0.283283641	0	RNA binding protein	BrainSpLMD|8575	OMIM|603424;HPO|8575|Abnormal pyramidal signs, Autosomal recessive inheritance, Bradykinesia, Delayed speech and language development, Dysarthria, Dysphagia, Gait disturbance, Hyperreflexia, Laryngeal dystonia, Limb dystonia, Lower limb pain, Morphological abnormality of the pyramidal tract, Motor delay, Parkinsonism, Postural tremor, Progressive, Retrocollis
RG-div1	MSMO1	0.279927863	0	Unclassified	BrainSpLMD|6307;Eurexp|euxassay_000744|Meckel's cartilage, adrenal gland, calyces, chondrocranium, dorsal root ganglion, facial VII, foregut-midgut junction, hindgut, incisor, inferior, lobe, mesenchyme, midgut, molar, olfactory, stomach, superior, testis, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|607545;HPO|6307|Arthralgia, Autosomal recessive inheritance, Blepharitis, Congenital cataract, Decreased circulating low-density lipoprotein levels, Delayed puberty, Delayed skeletal maturation, Failure to thrive, Global developmental delay, Hypocholesterolemia, Ichthyosis, Intellectual disability, mild, Microcephaly, Psoriasiform dermatitis, Short stature
RG-div1	CALM2	0.279768513	0	Calcium binding protein	BrainSpLMD|805	OMIM|114182;HPO|805|Autosomal dominant inheritance, Prolonged QT interval, Ventricular tachycardia, Vertigo
RG-div1	GJC1	0.277939447	0	Transport/cargo protein	BrainSpLMD|10052;Eurexp|euxassay_012257|cortex, incisor, mantle layer, trachea, ventricular layer	OMIM|608655
RG-div1	HNRNPR	0.276368202	0	RNA binding protein	BrainSpLMD|10236	OMIM|607201
RG-div1	SMC3	0.263540012	0	Unclassified	BrainSpLMD|9126;Eurexp|euxassay_000017|cortex, dorsal root ganglion, heart, larynx, lung, rest of mesenchyme, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|606062;HPO|9126|Abnormality of the cardiac septa, Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Brachydactyly, Bulbous nose, Clinodactyly of the 5th finger, Cognitive impairment, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downturned corners of mouth, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hirsutism, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Limited elbow movement, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phenotypic variability, Phthisis bulbi, Poor speech, Premature birth, Prominent nasal bridge, Proximal placement of thumb, Ptosis, Pulmonic stenosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Synophrys, Thick eyebrow, Thick hair, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Vesicoureteral reflux, Widely spaced teeth
RG-div1	UBE2A	0.262820001	0	Ubiquitin proteasome system protein	BrainSpLMD|7319;Eurexp|euxassay_018835|hypothalamus, mantle layer	OMIM|312180;HPO|7319|Abnormal hair whorl, Aggressive behavior, Almond-shaped palpebral fissure, Broad face, Broad hallux, Broad neck, Deeply set eye, Depressed nasal bridge, Downturned corners of mouth, Dry skin, Echolalia, Hirsutism, Hypointensity of cerebral white matter on MRI, Increased body weight, Intellectual disability, Low posterior hairline, Macrocephaly, Malar flattening, Micropenis, Midface retrusion, Nail dysplasia, Nail dystrophy, Pes planus, Poor speech, Prominent supraorbital ridges, Regional abnormality of skin, Seizures, Short foot, Short neck, Synophrys, Thin vermilion border, Upslanted palpebral fissure, Wide intermamillary distance, Wide mouth, X-linked recessive inheritance
RG-div1	ARPP19	0.256429579	0	Unclassified	BrainSpLMD|10776	OMIM|605487
RG-div1	FRYL	0.252373219	0	Unclassified	BrainSpLMD|285527;Eurexp|euxassay_000255|incisor, molar, submandibular gland primordium	
RG-div1	MEPCE	1.481737745	1.11E-16	Unclassified	BrainSpLMD|56257	OMIM|611478
RG-div1	ANKFN1	1.396515474	1.11E-16	Unclassified	BrainSpLMD|162282	
RG-div1	CTGF	1.338983062	1.11E-16	Extracellular matrix protein	BrainSpLMD|1490;Eurexp|euxassay_004838|alimentary system, aorta, arch of aorta, axial skeleton, basioccipital bone, basisphenoid bone, bladder, cardiac muscle, carotid artery, cartilage, clavicle, cortex, cricoid, descending, dorsal aorta, exoccipital bone, fibula, humerus, incisor, laryngeal, larynx, lung, meninges, mesenchyme, metanephros, metatarsus, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, palatal shelf, pelvic girdle, petrous part, phalanx, pharyngo-tympanic tube, pulmonary artery, pulmonary trunk, respiratory tract, rib, scapula, skeletal muscle, skeleton, sternum, stomach, temporal bone, thoracic aorta, thyroid, tibia, trachea, tubo-tympanic recess, turbinate bones, umbilical artery, vault of skull, ventricle, ventricular layer, vomeronasal organ;BrainSpMouseDev|13996	OMIM|121009;HPO|1490|Arthralgia, Arthritis, Autoimmunity, Carious teeth, Dyspareunia, Dysphagia, Dyspnea, Flexion contracture, Gastroesophageal reflux, Hypopigmented skin patches, Malabsorption, Mucosal telangiectasiae, Muscle weakness, Narrow foramen obturatorium, Nausea and vomiting, Oliguria, Osteolysis, Pulmonary fibrosis, Pulmonary infiltrates, Skin ulcer, Telangiectasia of the skin, Xerostomia
RG-div1	TGFB2	1.265405507	1.11E-16	Growth factor	BrainSpLMD|7042;BrainSpMouseDev|21567	OMIM|190220;HPO|7042|Abnormality of the iris, Abnormality of the sternum, Aortic dissection, Aortic regurgitation, Arachnodactyly, Arterial tortuosity, Ascending aortic dissection, Autosomal dominant inheritance, Bruising susceptibility, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Dural ectasia, Exertional dyspnea, High palate, Hypertension, Inguinal hernia, Joint hyperflexibility, Left ventricular failure, Mitral valve prolapse, Paroxysmal dyspnea, Pes planus, Retrognathia, Scoliosis, Tall stature
RG-div1	NUP37	1.230674325	1.11E-16	Transport/cargo protein	BrainSpLMD|79023;Eurexp|euxassay_006091|ventricular layer	OMIM|609264
RG-div1	EVA1C	1.200170231	1.11E-16	Integral membrane protein	BrainSpLMD|59271;Eurexp|euxassay_007192|cochlea, ventricular layer	
RG-div1	IFT57	1.005432614	1.11E-16	Unclassified	BrainSpLMD|55081	OMIM|606621
RG-div1	HOPX	0.952067161	1.11E-16	Transcription regulatory protein	BrainSpLMD|84525;Eurexp|euxassay_010529|anterior, atrium, external, lateral wall, mantle layer, midgut, ventricle, ventricular layer, vibrissa;BrainSpMouseDev|50159	OMIM|607275
RG-div1	NEK6	0.905893034	1.11E-16	Serine/threonine kinase	BrainSpLMD|10783	OMIM|604884
RG-div1	LAMA1	0.892289023	1.11E-16	Extracellular matrix protein	BrainSpLMD|284217;Eurexp|euxassay_011017|epithelium, glomeruli, lens, meninges, renal/urinary system, ventricular layer;BrainSpMouseDev|16544	SFARI||Autism, 4 - Minimal evidence;OMIM|150320;HPO|284217|Abnormality of the periventricular white matter, Amblyopia, Autosomal recessive inheritance, Cerebellar cyst, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Delayed speech and language development, Dilated fourth ventricle, Motor delay, Myopia, Nystagmus, Oculomotor apraxia, Retinal atrophy, Retinal dystrophy, Retinal thinning, Strabismus, Variable expressivity
RG-div1	PMF1	0.889979367	1.11E-16	Transcription regulatory protein	BrainSpLMD|11243	OMIM|609176
RG-div1	CEP57L1P1	0.803159195	1.11E-16			
RG-div1	SORT1	0.768500645	1.11E-16	Cell surface receptor	BrainSpLMD|6272;BrainSpMouseDev|20423	OMIM|602458
RG-div1	MIS18A	0.760771575	1.11E-16	Unclassified	BrainSpLMD|54069	
RG-div1	POLE2	0.734496925	1.11E-16	DNA polymerase	BrainSpLMD|5427;Eurexp|euxassay_006546|choroid invagination, choroid plexus, diaphragm, extrinsic, intrinsic, mesenchyme, paraxial mesenchyme, roof plate, vertebral axis muscle system	OMIM|602670
RG-div1	RRP8	0.730745905	1.11E-16	Enzyme: Methyltransferase	BrainSpLMD|23378;Eurexp|euxassay_013676|ventricular layer	OMIM|615818
RG-div1	DUT	0.717559024	1.11E-16	Enzyme: Hydrolase	BrainSpLMD|1854	OMIM|601266
RG-div1	FNDC3B	0.712036401	1.11E-16	Integral membrane protein	BrainSpLMD|64778	OMIM|611909
RG-div1	ADAMTS6	0.707082193	1.11E-16	Metallo protease	BrainSpLMD|11174	OMIM|605008
RG-div1	TCTN2	0.696256078	1.11E-16	Unclassified	BrainSpLMD|79867;Eurexp|euxassay_000837|4th ventricle, choroid plexus, lateral recess, turbinate bones, ventricular layer	OMIM|613846;HPO|79867|Abdominal distention, Absent speech, Anophthalmia, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Broad forehead, Cataract, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Cleft palate, Cleft upper lip, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Dysmetria, Encephalocele, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Hyperechogenic kidneys, Hypermetropia, Hyperreflexia, Hypertelorism, Infantile onset, Intellectual disability, Lobar holoprosencephaly, Long face, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Pachygyria, Polydactyly, Polymicrogyria, Postaxial foot polydactyly, Postaxial hand polydactyly, Sclerocornea, Short neck, Short nose, Sloping forehead, Spasticity, Talipes, Talipes equinovarus
RG-div1	G2E3	0.686765456	1.11E-16	Enzyme: Ligase	BrainSpLMD|55632	OMIM|611299
RG-div1	OTX1	0.684784097	1.11E-16	Transcription factor	BrainSpLMD|5013;Eurexp|euxassay_004727|brain, conjunctival sac, dorsal root ganglion, epithelium, glossopharyngeal IX, incisor, naris, naso-lacrimal duct, neural retina, olfactory, oral epithelium, respiratory, spinal cord, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|18190	SFARI||Autism, 4 - Minimal evidence;OMIM|600036
RG-div1	PDIA6	0.646989988	1.11E-16	Enzyme: Isomerase	BrainSpLMD|10130	OMIM|611099
RG-div1	ZC3H7A	0.638431063	1.11E-16	DNA binding protein	BrainSpLMD|29066;Eurexp|euxassay_007309|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, mandible, mesenchyme, metatarsus, orbito-sphenoid, pelvic girdle, petrous part, phalanx, turbinate, vault of skull	
RG-div1	GLI2	0.632248541	1.11E-16	Transcription factor	BrainSpLMD|2736;Eurexp|euxassay_008920|marginal layer, ventricular layer;BrainSpMouseDev|14409	OMIM|165230;HPO|2736|Abnormal cortical gyration, Abnormal prolactin level, Abnormality of secondary sexual hair, Agenesis of incisor, Amenorrhea, Anophthalmia, Anterior pituitary agenesis, Anterior pituitary hypoplasia, Aplasia/Hypoplasia of the breasts, Autosomal dominant inheritance, Bilateral cleft lip and palate, Cryptorchidism, Decreased circulating ACTH level, Decreased testicular size, Dental malocclusion, Depressed nasal bridge, Depressed nasal ridge, Ectopic posterior pituitary, Fatigue, Global developmental delay, Growth hormone deficiency, Holoprosencephaly, Hydrocephalus, Hypoglycemia, Hypogonadotrophic hypogonadism, Hypopituitarism, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Hypotelorism, Hypotension, Incomplete penetrance, Infertility, Macrotia, Malar flattening, Microcephaly, Micropenis, Microphthalmia, Midface retrusion, Optic nerve hypoplasia, Osteopenia, Panhypopituitarism, Partial agenesis of the corpus callosum, Pituitary hypothyroidism, Postaxial hand polydactyly, Prominent antihelix, Seizures, Short hard palate, Short philtrum, Short stature, Single median maxillary incisor, Single naris, Sporadic, Underdeveloped tragus, Variable expressivity
RG-div1	SDHD	0.495812232	1.11E-16	Enzyme: Dehydrogenase	BrainSpLMD|6392	OMIM|602690;COSMIC||paraganglioma, pheochromocytoma;HPO|6392|Abdominal pain, Abnormal mitochondria in muscle tissue, Abnormality of mitochondrial metabolism, Abnormality of the penis, Adenoma sebaceum, Adult onset, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Breast carcinoma, Cafe-au-lait spot, Cavernous hemangioma, Cerebral hemorrhage, Chemodectoma, Cognitive impairment, Colorectal polyposis, Conductive hearing impairment, Congenital cataract, Congestive heart failure, Conjunctival hamartoma, Cranial nerve paralysis, Decreased activity of mitochondrial complex II, Developmental regression, Dilated cardiomyopathy, Dysphagia, Dystonia, Elevated circulating catecholamine level, Elevated urinary norepinephrine, Episodic hypertension, Episodic paroxysmal anxiety, Exercise intolerance, Flexion contracture, Furrowed tongue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Generalized hyperkeratosis, Global developmental delay, Glomus jugular tumor, Glomus tympanicum paraganglioma, Goiter, Hamartomatous polyposis, Hearing impairment, Hemangioma, Hoarse voice, Hypercalcemia, Hyperhidrosis, Hyperreflexia, Hypertension associated with pheochromocytoma, Hypertensive retinopathy, Hypertrophic cardiomyopathy, Increased intramyocellular lipid droplets, Increased serum lactate, Infantile onset, Intellectual disability, Intestinal carcinoid, Intestinal obstruction, Left ventricular noncompaction, Leukoencephalopathy, Lipoma, Loss of voice, Macrocephaly, Macroglossia, Macule, Melanocytic nevus, Meningioma, Mucosal telangiectasiae, Muscle weakness, Myoclonus, Neonatal hypotonia, Neoplasm, Neoplasm of the gastrointestinal tract, Neoplasm of the thyroid gland, Nystagmus, Ophthalmoplegia, Optic atrophy, Palmoplantar keratoderma, Palpitations, Papilloma, Papule, Paraganglioma, Phenotypic variability, Pheochromocytoma, Pigmentary retinopathy, Positive regitine blocking test, Progressive leukoencephalopathy, Proteinuria, Ptosis, Pulsatile tinnitus, Ragged-red muscle fibers, Recurrent paroxysmal headache, Renal artery stenosis, Renal cell carcinoma, Seizures, Short stature, Spasticity, Stress/infection-induced lactic acidosis, Subcutaneous nodule, Tachycardia, Tinnitus, Uterine leiomyoma, Vagal paraganglioma, Visual impairment, Vocal cord paralysis, Weight loss
RG-div1	HSPD1P1	0.475584853	1.11E-16			
RG-div1	RP11.620J15.3	0.454861965	1.11E-16			
RG-div1	MDM2	0.401885794	1.11E-16	Ubiquitin proteasome system protein	BrainSpLMD|4193;Eurexp|euxassay_006190|embryo	OMIM|164785;COSMIC||sarcoma, glioma, colorectal, other tumour types;HPO|4193|Breast carcinoma, Lymphoma, Neoplasm of the adrenal cortex, Neoplasm of the colon, Neoplasm of the nervous system, Neoplasm of the pancreas, Neoplasm of the skin, Osteosarcoma, Progressive encephalopathy, Subcutaneous nodule
RG-div1	EPS15	0.391957699	1.11E-16	Calcium binding protein	BrainSpLMD|2060;Eurexp|euxassay_005655|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|600051;COSMIC||ALL
RG-div1	HSPH1	0.384825188	1.11E-16	Heat shock protein;Chaperone	BrainSpLMD|10808	OMIM|610703
RG-div1	LSM12	0.35590757	1.11E-16	Unclassified		OMIM|611793
RG-div1	C16orf80	0.329760407	1.11E-16			
RG-div1	INTS6	0.308541591	1.11E-16	RNA binding protein	BrainSpLMD|26512	SFARI||Autism, 2 - Strong candidate;OMIM|604331
RG-div1	SUCO	0.260721474	1.11E-16	Integral membrane protein	BrainSpLMD|51430	
RG-div1	BCLAF1	0.255956943	1.11E-16	Transcription factor	BrainSpLMD|9774	OMIM|612588;COSMIC||melanoma, SCC
RG-div1	RAD54L	1.703143544	2.22E-16	DNA binding protein	BrainSpLMD|8438;Eurexp|euxassay_001626|cortex, incisor, marginal layer, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|603615;HPO|8438|Lymphoma
RG-div1	SCARA3	1.295304129	2.22E-16	Unclassified;ATPase	BrainSpLMD|51435;Eurexp|euxassay_004188|body-wall mesenchyme, clavicle, cochlea, head mesenchyme, mandible, maxilla, skeleton;BrainSpMouseDev|85488	OMIM|602728
RG-div1	CDC6	1.235692795	2.22E-16	Cell cycle control protein	BrainSpLMD|990	OMIM|602627;HPO|990|Abnormality of epiphysis morphology, Abnormality of the ribs, Anotia, Aplastic clavicles, Atresia of the external auditory canal, Autosomal recessive inheritance, Birth length less than 3rd percentile, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Craniosynostosis, Cryptorchidism, Delayed skeletal maturation, Elbow dislocation, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, High, narrow palate, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Intrauterine growth retardation, Irregular femoral epiphysis, Joint hyperflexibility, Long philtrum, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Micropenis, Microtia, Microtia, third degree, Mild global developmental delay, Motor delay, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Prominent metopic ridge, Respiratory distress, Respiratory failure, Retrognathia, Severe short stature, Slender long bone, Small earlobe, Triangular face
RG-div1	ENOSF1	1.085624892	2.22E-16	Enzyme: Ligase	BrainSpLMD|55556	OMIM|607427
RG-div1	CDC7	1.084524922	2.22E-16	Cell cycle control protein	BrainSpLMD|8317;Eurexp|euxassay_012050|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|603311
RG-div1	LIN54	0.87589527	2.22E-16	Unclassified	BrainSpLMD|132660	OMIM|613367
RG-div1	NES	0.842593657	2.22E-16	Cytoskeletal protein	BrainSpLMD|10763;Eurexp|euxassay_017860|calyces, diaphragm, head mesenchyme, meninges, mesenchyme, skeletal muscle, tongue, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|17775	OMIM|600915
RG-div1	LBR	0.736389969	2.22E-16	Integral membrane protein	BrainSpLMD|3930	OMIM|600024;HPO|3930|11 pairs of ribs, Abnormal foot bone ossification, Abnormal joint morphology, Abnormal lung lobation, Abnormal ossification involving the femoral head and neck, Abnormal pelvis bone ossification, Abnormal vertebral ossification, Abnormality of cholesterol metabolism, Abnormality of chromosome segregation, Abnormality of leukocytes, Abnormality of the calcaneus, Abnormality of the gastric mucosa, Abnormality of the scapula, Abnormality of the vertebral spinous processes, Absent or minimally ossified vertebral bodies, Absent toenail, Anterior rib punctate calcifications, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Barrel-shaped chest, Biliary cirrhosis, Bone marrow hypocellularity, Bowing of the long bones, Brachydactyly, Broad palm, Calcinosis, Calcinosis cutis, Calvarial skull defect, Cardiomegaly, Cystic hygroma, Decreased skull ossification, Depressed nasal bridge, Diaphyseal thickening, Disproportionate short-limb short stature, Dysphagia, Elevated alkaline phosphatase, Elevated hepatic transaminases, Epiphyseal stippling, Extramedullary hematopoiesis, Fatigue, Fever, Flared metaphysis, Gastroesophageal reflux, Gastrointestinal hemorrhage, Global developmental delay, Hepatic calcification, Hepatomegaly, Hepatosplenomegaly, High forehead, Horizontal sacrum, Hyperbilirubinemia, Hypertelorism, Hypoplasia of the maxilla, Hypoplastic fingernail, Hypoplastic vertebral bodies, Hyposegmentation of neutrophil nuclei, Intestinal malrotation, Irregular hyperpigmentation, Jaundice, Keratoconjunctivitis sicca, Laryngeal calcification, Lethal skeletal dysplasia, Lip telangiectasia, Long clavicles, Low-set ears, Lymphedema, Macrocephaly, Malar flattening, Mesomelia, Metaphyseal cupping, Micrognathia, Micromelia, Midface retrusion, Misalignment of teeth, Mucosal telangiectasiae, Multiple prenatal fractures, Myalgia, Narrow chest, Neonatal death, Nonimmune hydrops fetalis, Omphalocele, Palmar telangiectasia, Pancreatic islet-cell hyperplasia, Patchy variation in bone mineral density, Platyspondyly, Pleural effusion, Polydactyly, Polyhydramnios, Postaxial foot polydactyly, Postaxial hand polydactyly, Preeclampsia, Prominent forehead, Pruritus, Pulmonary hypoplasia, Punctate vertebral calcifications, Raynaud phenomenon, Rhizomelia, Sandal gap, Sclerodactyly, Scleroderma, Sclerosis of skull base, Severe hydrops fetalis, Severe short-limb dwarfism, Short diaphyses, Short phalanx of finger, Short ribs, Skin rash, Skin ulcer, Splenomegaly, Steatorrhea, Sternal punctate calcifications, Stillbirth, Supernumerary vertebral ossification centers, Telangiectasia of the skin, Tracheal calcification, Ulnar deviation of the hand, Xerostomia
RG-div1	DAXX	0.728485871	2.22E-16	Adapter molecule	BrainSpLMD|1616	OMIM|603186;COSMIC||pancreatic neuroendocrine tumour, paediatric glioblastoma
RG-div1	SEMA5B	0.640124525	2.22E-16	Integral membrane protein	BrainSpLMD|54437;BrainSpMouseDev|20120	OMIM|609298
RG-div1	ALDH7A1	0.623295195	2.22E-16	Enzyme: Oxidoreductase	BrainSpLMD|501	OMIM|107323;HPO|501|Abnormality of metabolism/homeostasis, Abnormality of movement, Autosomal recessive inheritance, Delayed speech and language development, EEG abnormality, Fetal distress, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Intellectual disability, Muscular hypotonia, Neonatal respiratory distress, Neurological speech impairment, Prenatal movement abnormality, Respiratory distress, Status epilepticus
RG-div1	SQLE	0.611078874	2.22E-16	Enzyme: Oxygenase	BrainSpLMD|6713	OMIM|602019
RG-div1	MASP1	0.60776768	2.22E-16	Serine protease	BrainSpLMD|5648	OMIM|600521;HPO|5648|Abnormality of eye movement, Abnormality of the anterior chamber, Atrial septal defect, Autosomal recessive inheritance, Bilateral cryptorchidism, Blepharophimosis, Broad foot, Caudal appendage, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Conductive hearing impairment, Conjunctival telangiectasia, Coronal craniosynostosis, Craniosynostosis, Dental crowding, Diastasis recti, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus inversus, Glaucoma, Growth delay, Hearing impairment, Highly arched eyebrow, Hydronephrosis, Hyperlordosis, Hypertelorism, Intellectual disability, Intellectual disability, mild, Lambdoidal craniosynostosis, Large fleshy ears, Limited pronation/supination of forearm, Microcephaly, Omphalocele, Oral cleft, Patent ductus arteriosus, Postnatal growth retardation, Ptosis, Radioulnar synostosis, Sacral dimple, Scoliosis, Short 5th finger, Short foot, Single interphalangeal crease of fifth finger, Skull asymmetry, Spina bifida occulta, Supernumerary nipple, Telecanthus, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide anterior fontanel
RG-div1	FERMT2	0.607368836	2.22E-16	Cytoskeletal protein	BrainSpLMD|10979;Eurexp|euxassay_012610|hindgut, metanephros, midgut, stomach, ventricular layer, wall	OMIM|607746
RG-div1	SNRPGP2	0.576845793	2.22E-16			
RG-div1	HIGD1A	0.516700423	2.22E-16	Integral membrane protein		
RG-div1	EHBP1	0.516351218	2.22E-16	Unclassified	BrainSpLMD|23301	OMIM|609922
RG-div1	SNORD63	0.475814398	2.22E-16			
RG-div1	NASP	0.374175548	2.22E-16	Cell cycle control protein	BrainSpLMD|4678;Eurexp|euxassay_016401|marginal layer, metanephros, ventricular layer	OMIM|603185
RG-div1	TOR1AIP2	0.254624882	2.22E-16	Unclassified	BrainSpLMD|163590	OMIM|614513
RG-div1	ZNF826P	0.745995824	3.33E-16	Unclassified		
RG-div1	MTHFD1	0.743694916	3.33E-16	Enzyme: Dehydrogenase	BrainSpLMD|4522;Eurexp|euxassay_004845|axial muscle, fundus, incisor, left, left lung, lumen, molar, oesophagus, pancreas, right, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|172460
RG-div1	KIAA1731	0.630388307	3.33E-16			
RG-div1	CLEC2D	0.356812868	3.33E-16	Cell surface receptor	BrainSpLMD|29121	OMIM|605659
RG-div1	STAG1	0.355600318	3.33E-16	Cell cycle control protein	BrainSpLMD|10274	SFARI||Autism, No category;OMIM|604358;COSMIC||colorectal cancer, AML
RG-div1	PRPF38A	0.311790436	3.33E-16	Unclassified	BrainSpLMD|84950;Eurexp|euxassay_001967|incisor, submandibular gland primordium, vibrissa	OMIM|617031
RG-div1	HIPK1	0.261167183	3.33E-16	Serine/threonine kinase	BrainSpLMD|204851	OMIM|608003
RG-div1	MTHFD1L	0.97040701	4.44E-16	Enzyme: Ligase	BrainSpLMD|25902;Eurexp|euxassay_002080|Meckel's cartilage, foregut-midgut junction, hindgut, lobe, midgut, neural retina, orbito-sphenoid, rectum, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|611427
RG-div1	TAF9	0.378697242	4.44E-16	Transcription regulatory protein	BrainSpLMD|6880;Eurexp|euxassay_002090|thymus primordium;BrainSpMouseDev|72303	OMIM|600822
RG-div1	TMEM97	0.35200199	4.44E-16	Unclassified	BrainSpLMD|27346;Eurexp|euxassay_006766|axial skeleton, clavicle, cranium, digit 1, digit 2, digit 3, digit 4, digit 5, femur, fibula, handplate, humerus, incisor, liver, mandible, maxilla, naris, pancreas, petrous part, radius, rib, scapula, submandibular gland primordium, tibia, turbinate bones, ulna, vibrissa	OMIM|612912
RG-div1	UBB	0.272374314	4.44E-16	Ubiquitin proteasome system protein	BrainSpLMD|7314	OMIM|191339;HPO|7314|Anterior open-bite malocclusion, Autosomal dominant inheritance, Cleft palate, Gingival overgrowth, Intellectual disability, profound, Micrognathia, Overbite, Seizures
RG-div1	PIK3C2A	0.715447582	5.55E-16	Lipid Kinase	BrainSpLMD|5286	OMIM|603601
RG-div1	SPCS2P4	0.539366474	5.55E-16			
RG-div1	MPDZ	0.459078321	5.55E-16	Cell junction protein	BrainSpLMD|8777;Eurexp|euxassay_012184|marginal layer, neural retina, olfactory, ventricular layer	OMIM|603785;HPO|8777|Autosomal recessive inheritance, Communicating hydrocephalus, Congenital onset, Cortical gyral simplification, Intellectual disability, Macrocephaly, Seizures
RG-div1	SNX2	0.378167776	5.55E-16	Transport/cargo protein	BrainSpLMD|6643	OMIM|605929
RG-div1	ARL6IP6	1.159417091	6.66E-16	Unclassified	BrainSpLMD|151188;Eurexp|euxassay_011620|olfactory, submandibular gland primordium, ventricular layer	OMIM|616495
RG-div1	CCNY	0.502195536	6.66E-16	Unclassified	BrainSpLMD|219771	OMIM|612786
RG-div1	ZNF438	0.481683309	6.66E-16	DNA binding protein	BrainSpLMD|220929	
RG-div1	TMEM131	0.436925086	6.66E-16	Unclassified	Eurexp|euxassay_015895|thymus primordium	OMIM|615659
RG-div1	PRIM1	0.387917445	6.66E-16	RNA polymerase	BrainSpLMD|5557;Eurexp|euxassay_018061|embryo	OMIM|176635
RG-div1	ST7.OT4	0.380547195	6.66E-16			
RG-div1	DARS2	1.068328443	7.77E-16	Unclassified	BrainSpLMD|55157	OMIM|610956;HPO|55157|Ataxia, Autosomal recessive inheritance, Babinski sign, Flexion contracture, Hyperreflexia, Hyporeflexia, Leukoencephalopathy, Motor delay, Muscle weakness, Nystagmus, Peripheral axonal neuropathy, Skeletal muscle atrophy, Slow progression, Spasticity, Tremor, Variable expressivity
RG-div1	GGCT	1.002624271	7.77E-16	Unclassified	BrainSpLMD|79017	OMIM|137170
RG-div1	ANXA2P2	0.787112116	7.77E-16		BrainSpLMD|304	
RG-div1	RARRES2	0.786030348	7.77E-16	Cell surface receptor	BrainSpLMD|5919	OMIM|601973
RG-div1	MIB1	0.526615292	7.77E-16	Ubiquitin proteasome system protein	BrainSpLMD|57534;Eurexp|euxassay_013905|glossopharyngeal IX, mantle layer, molar, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|86214	SFARI||Autism, 4 - Minimal evidence;OMIM|608677;HPO|57534|Autosomal dominant inheritance, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy
RG-div1	PPIL4	0.381798608	7.77E-16	Chaperone	BrainSpLMD|85313	OMIM|607609
RG-div1	RAPGEF2	0.349210707	7.77E-16	Guanine nucleotide exchange factor	BrainSpLMD|9693;Eurexp|euxassay_014449|olfactory	OMIM|609530
RG-div1	IDI1	0.342487748	7.77E-16	Enzyme: Isomerase	BrainSpLMD|3422;Eurexp|euxassay_011601|adrenal gland, cervical, cervico-thoracic, clavicle, cortex, dorsal root ganglion, glossopharyngeal IX, hindgut, incisor, lobe, mandible, mantle layer, maxilla, midgut, molar, neural retina, olfactory, orbito-sphenoid, pancreas, rectum, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ	OMIM|604055
RG-div1	FAM131A	1.337470137	8.88E-16	Unclassified	BrainSpLMD|131408	
RG-div1	NUP188	0.786530483	8.88E-16	Unclassified		OMIM|615587
RG-div1	C4orf46	0.760549345	9.99E-16	Unclassified		OMIM|616210
RG-div1	TUBGCP3	0.78387983	1.11E-15	Cytoskeletal associated protein	BrainSpLMD|10426;Eurexp|euxassay_002145|thymus primordium	
RG-div1	SUGP2	0.447317739	1.11E-15	RNA binding protein	BrainSpLMD|10147;Eurexp|euxassay_009811|mandible, maxilla, orbito-sphenoid, rib	OMIM|607993
RG-div1	DYRK1A	0.370141575	1.11E-15	Serine/threonine kinase	BrainSpLMD|1859	SFARI||Autism, 1 - High confidence;OMIM|600855;HPO|1859|Ataxia, Autism, Autosomal dominant inheritance, Bulbous nose, Cerebral cortical atrophy, Deeply set eye, Delayed speech and language development, Failure to thrive in infancy, Febrile seizures, Gait disturbance, Generalized hypotonia, Hallux valgus, Hyperactivity, Hypotelorism, Intellectual disability, severe, Intrauterine growth retardation, Macrotia, Microcephaly, Micrognathia, Narrow forehead, Severe global developmental delay, Small for gestational age, Thickened helices
RG-div1	ATRAID	0.57387653	1.22E-15	Unclassified	BrainSpLMD|51374	
RG-div1	RP5.821D11.7	0.513885892	1.22E-15			
RG-div1	REEP3	0.37267737	1.22E-15	Unclassified	BrainSpLMD|221035;Eurexp|euxassay_004457|digit 1, digit 2, digit 3, digit 4, digit 5, footplate, handplate, lower leg, trigeminal V, valve, ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|609348
RG-div1	SAP30	0.367433522	1.22E-15	Regulatory/other subunit	BrainSpLMD|8819	OMIM|603378
RG-div1	DNMT1	0.561090888	1.33E-15	DNA methyltransferase	BrainSpLMD|1786;BrainSpMouseDev|13212	OMIM|126375;HPO|1786|Adult onset, Apathy, Ataxia, Autosomal dominant inheritance, Cataplexy, Cerebellar atrophy, Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers, Dementia, Depressivity, Excessive daytime sleepiness, Excessive daytime somnolence, Hyperreflexia, Hyporeflexia, Impulsivity, Irritability, Memory impairment, Narcolepsy, Osteomyelitis, Primitive reflex, Progressive, Sensorineural hearing impairment, Sensory neuropathy, Spasticity
RG-div1	FUT8	0.497982343	1.33E-15	Enzyme: Fucosyltransferase	BrainSpLMD|2530	OMIM|602589
RG-div1	PTPRM	0.733177704	1.44E-15	Receptor tyrosine phosphatase	BrainSpLMD|5797;Eurexp|euxassay_010519|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|176888
RG-div1	IFITM3	0.484291024	1.44E-15	Integral membrane protein	BrainSpLMD|10410;Eurexp|euxassay_004558|pancreas, submandibular gland primordium, thymus primordium	OMIM|605579
RG-div1	TMSB15A	0.301420019	1.55E-15	Unclassified	BrainSpLMD|11013	OMIM|300939
RG-div1	SAPCD2	1.160404201	1.78E-15	Unclassified	BrainSpLMD|89958	OMIM|612057
RG-div1	CTC.260E6.6	0.807915369	1.78E-15			
RG-div1	EIF4A3	0.529531791	1.78E-15	Unclassified	BrainSpLMD|9775;Eurexp|euxassay_003305|submandibular gland primordium, testis, vibrissa	OMIM|608546;HPO|9775|Abnormality of the aryepiglottic fold, Abnormality of the voice, Agenesis of mandibular central incisor, Aplasia of the epiglottis, Autosomal recessive inheritance, Bifid uvula, Cleft lower alveolar ridge, Cleft mandible, Clinodactyly of the 5th finger, Feeding difficulties, Global developmental delay, High palate, Hypoplasia of the radius, Low-set ears, Microretrognathia, Narrow mouth, Pierre-Robin sequence, Prominent nose, Protruding ear, Proximal placement of thumb, Radial deviation of the hand, Short metacarpal, Short phalanx of finger, Short stature, Short thumb, Talipes equinovarus, Tibial deviation of toes
RG-div1	EFHC1	0.560870778	1.89E-15	Unclassified	BrainSpLMD|114327;Eurexp|euxassay_011763|choroid invagination, choroid plexus, epithelium, olfactory, roof plate	OMIM|608815;HPO|114327|Abnormality of eye movement, Abnormality of the mouth, EEG with polyspike wave complexes, Generalized tonic-clonic seizures
RG-div1	WAPAL	0.559096791	1.89E-15			
RG-div1	GPC6	0.929431418	2.00E-15	Growth factor	BrainSpLMD|10082	SFARI||Autism, 4 - Minimal evidence;OMIM|604404;HPO|10082|Anterolateral radial head dislocation, Atrial septal defect, Autosomal recessive inheritance, Axillary pterygia, Blepharophimosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Fibular hypoplasia, Flat face, Frontal bossing, Hemangioma, Hypoplastic distal humeri, Increased fibular diameter, Limited elbow extension, Limited elbow flexion, Limited elbow flexion/extension, Limited hip movement, Limited knee extension, Limited knee flexion, Limited knee flexion/extension, Long philtrum, Malar flattening, Micrognathia, Popliteal pterygium, Pulmonary artery stenosis, Rhizomelia, Short humerus, Short neck, Short nose, Short tibia, Umbilical hernia, Ventricular septal defect, Wide nasal bridge
RG-div1	EXTL2	0.485982257	2.00E-15	Enzyme: Glycosyltransferase	BrainSpLMD|2135	OMIM|602411
RG-div1	MCM7	0.32226463	2.11E-15	Unclassified;DNA helicase	BrainSpLMD|4176;Eurexp|euxassay_018019|embryo	OMIM|600592
RG-div1	SYPL1	0.856866963	2.22E-15	Integral membrane protein	BrainSpLMD|6856;Eurexp|euxassay_005903|embryo	OMIM|616665
RG-div1	SPAG16	0.658936004	2.22E-15	Unclassified	BrainSpLMD|79582	OMIM|612173
RG-div1	CTC.359D24.3	0.509270537	2.22E-15			
RG-div1	SASS6	0.334610155	2.22E-15	Unclassified	BrainSpLMD|163786;Eurexp|euxassay_004943|retina, ventricular layer	OMIM|609321;HPO|163786|Abnormal cortical bone morphology, Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Pachygyria, Poor speech, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
RG-div1	CTNNB1	0.293282839	2.22E-15	Adhesion molecule	BrainSpLMD|1499;BrainSpMouseDev|12172	SFARI||Autism, 3 - Suggestive evidence;OMIM|116806;COSMIC||colorectal, ovarian, hepatoblastoma, pleomorphic salivary gland adenoma, other tumour types;HPO|1499|Abdominal pain, Abnormal hypothalamus morphology, Abnormal visual field test, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Autosomal dominant inheritance, Autosomal recessive inheritance, Bitemporal hemianopia, Breast carcinoma, Central adrenal insufficiency, Central diabetes insipidus, Cerebral calcification, Desmoid tumors, Dysgerminoma, Elevated alpha-fetoprotein, Enlarged pituitary gland, Epigastric pain, Excessive daytime somnolence, Fatigue, Generalized hypotonia, Global developmental delay, Headache, Hepatic fibrosis, Hepatic necrosis, Hepatocellular carcinoma, Hepatomegaly, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hypogonadotrophic hypogonadism, Hypoplasia of the corpus callosum, Incomplete penetrance, Infantile onset, Intellectual disability, Intestinal polyposis, Intracranial cystic lesion, Long philtrum, Malabsorption, Medulloblastoma, Microcephaly, Micronodular cirrhosis, Myalgia, Nausea and vomiting, Neoplasm of the anterior pituitary, Neoplasm of the stomach, Neurological speech impairment, Obesity, Ovarian papillary adenocarcinoma, Papilledema, Pilomatrixoma, Pituitary hypothyroidism, Portal vein thrombosis, Progressive visual field defects, Prolactin excess, Renal cell carcinoma, Slow decrease in visual acuity, Somatic mutation, Spastic diplegia, Strabismus, Subacute progressive viral hepatitis, Subcutaneous nodule, Thin upper lip vermilion, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Vomiting
RG-div1	EEPD1	0.748816803	2.33E-15	DNA binding protein	BrainSpLMD|80820;Eurexp|euxassay_002552|dorsal root ganglion, facial VII, orbito-sphenoid, trigeminal V	OMIM|617192
RG-div1	HAUS5	0.464123195	2.33E-15	Unclassified	BrainSpLMD|23354	OMIM|613432
RG-div1	NRF1	0.431199308	2.33E-15	DNA binding protein	BrainSpLMD|4899;Eurexp|euxassay_011903|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, scapula, tibia, turbinate bones	OMIM|600879
RG-div1	HNRNPA3	0.303564492	2.33E-15	Ribonucleoprotein		OMIM|605372
RG-div1	MAP7D3	1.707599639	2.44E-15	Unclassified		OMIM|300930
RG-div1	LRRCC1	0.49209543	2.44E-15	Unclassified	BrainSpLMD|85444;Eurexp|euxassay_007263|Meckel's cartilage, aortic valve, basisphenoid bone, exoccipital bone, mitral valve, orbito-sphenoid, skeletal muscle, temporal bone, tricuspid valve, turbinate bones, vault of skull	OMIM|617791
RG-div1	DIXDC1	0.550996636	2.55E-15	Unclassified	BrainSpLMD|85458	SFARI||Autism, 4 - Minimal evidence;OMIM|610493
RG-div1	CEP70	1.173787205	2.89E-15	Structural protein	BrainSpLMD|80321	OMIM|614310
RG-div1	PGM3	0.65248972	2.89E-15	Enzyme: Mutase	BrainSpLMD|5238	OMIM|172100;HPO|5238|Allergic rhinitis, Asthma, Ataxia, Autosomal recessive inheritance, Bronchiectasis, Cognitive impairment, Conductive hearing impairment, Cortical myoclonus, Dysarthria, Eczema, Generalized hypotonia, Global developmental delay, High palate, Immunodeficiency, Intellectual disability, Lymphopenia, Neutropenia, Recurrent respiratory infections, Scoliosis, Sensorineural hearing impairment, Sensory impairment, Vasculitis in the skin
RG-div1	KAT7	0.330726911	2.89E-15	Enzyme: Acyltransferase	BrainSpLMD|11143;BrainSpMouseDev|85129	OMIM|609880;COSMIC||CCRCC
RG-div1	TOB2	0.556038571	3.11E-15	Cell cycle control protein	BrainSpLMD|10766;Eurexp|euxassay_002023|Meckel's cartilage, orbito-sphenoid	OMIM|607396
RG-div1	RIT1	0.543871588	3.22E-15	GTPase	BrainSpLMD|6016;Eurexp|euxassay_012013|Meckel's cartilage, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, orbito-sphenoid, petrous part, rib, scapula, tibia, turbinate	OMIM|609591;HPO|6016|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of the spleen, Abnormality of the sternum, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Coarse hair, Cryptorchidism, Curly hair, Cystic hygroma, Delayed skeletal maturation, Downslanted palpebral fissures, Dysarthria, Enlarged thorax, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Hepatomegaly, High forehead, High palate, Hyperkeratosis, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadotrophic hypogonadism, Joint hyperflexibility, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Micrognathia, Midface retrusion, Muscle weakness, Muscular hypotonia, Pectus carinatum, Pectus excavatum, Polyhydramnios, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Relative macrocephaly, Scoliosis, Short neck, Short stature, Strabismus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Triangular face, Ventricular septal defect, Webbed neck, Wide intermamillary distance
RG-div1	PRKDC	0.305146208	3.22E-15	Serine/threonine kinase;DNA repair protein	BrainSpLMD|5591;Eurexp|euxassay_009524|thymus primordium	SFARI||Autism, 4 - Minimal evidence;OMIM|600899;HPO|5591|Autosomal recessive inheritance, Infantile onset, Microcephaly, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Severe combined immunodeficiency
RG-div1	FANCG	1.417979414	3.89E-15	DNA repair protein	BrainSpLMD|2189	OMIM|602956;COSMIC||AML, leukaemia;HPO|2189|Abnormality of chromosome stability, Abnormality of the thumb, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukemia, Leukopenia, Microcephaly, Multiple cafe-au-lait spots, Myelodysplasia, Neutropenia, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
RG-div1	DEGS1	0.288775925	3.89E-15	Enzyme: Oxidoreductase	BrainSpLMD|8560;Eurexp|euxassay_002879|dorsal root ganglion, pancreas, ventral grey horn	OMIM|615843
RG-div1	ADK	0.68000631	4.00E-15	Enzyme: Phosphotransferase	BrainSpLMD|132;Eurexp|euxassay_001699|Meckel's cartilage, basisphenoid bone, bladder, cortex, exoccipital bone, foregut-midgut junction, hindgut, lobe, lung, midgut, molar, nucleus pulposus, oesophagus, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, rectum, rib, stomach, submandibular gland primordium, thymus primordium, vault of skull, ventricular layer, vertebra	SFARI||Autism, 4 - Minimal evidence;OMIM|102750;HPO|132|Autosomal recessive inheritance, Cerebral atrophy, Cholestasis, Decreased liver function, Delayed speech and language development, Elevated hepatic transaminases, Failure to thrive, Frontal bossing, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Hypertelorism, Infantile onset, Macrocephaly, Narrow foot, Poor speech, Portal fibrosis, Progressive, Seizures, Skeletal muscle atrophy
RG-div1	CYP20A1	0.511058043	4.00E-15	Enzyme: Oxygenase	BrainSpLMD|57404;Eurexp|euxassay_012299|mandible, mantle layer, maxilla, orbito-sphenoid	
RG-div1	PDS5A	0.398652829	4.00E-15	Unclassified	BrainSpLMD|23244;Eurexp|euxassay_012483|cortex, incisor, molar, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|613200
RG-div1	PCBD2	1.124728587	4.44E-15	Enzyme: Dehydratase	BrainSpLMD|84105	OMIM|609836
RG-div1	FANCM	0.784171749	4.66E-15	ATPase;Enzyme: Translocase	BrainSpLMD|57697;Eurexp|euxassay_008121|lung, mandible, petrous part	OMIM|609644;HPO|57697|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Esophageal atresia, Global developmental delay, Growth delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
RG-div1	COA1	0.705381575	4.77E-15	Unclassified	BrainSpLMD|55744	OMIM|614769
RG-div1	IGSF9	0.957775123	5.00E-15	Immunoglobulin	BrainSpLMD|57549;Eurexp|euxassay_005660|adenohypophysis, bladder, epithelium, incisor, metanephros, midgut, molar, naris, naso-lacrimal duct, olfactory, oral epithelium, pharyngo-tympanic tube, pharynx, rectum, respiratory, saccule, stomach, submandibular gland primordium, urethra, utricle, vibrissa	OMIM|609738
RG-div1	GFAP	0.913038546	5.00E-15	Structural protein	BrainSpLMD|2670;BrainSpMouseDev|14356	OMIM|137780;HPO|2670|Ataxia, Autosomal dominant inheritance, Bulbar signs, Developmental regression, Diffuse demyelination of the cerebral white matter, Hydrocephalus, Increased CSF protein, Infantile onset, Progressive macrocephaly, Seizures, Spasticity
RG-div1	ABCE1	0.408255416	5.00E-15	Transport/cargo protein	BrainSpLMD|6059;Eurexp|euxassay_006203|frontal bone primordium, mantle layer, orbito-sphenoid, thymus primordium, ventricular layer, vertebral axis muscle system	OMIM|601213
RG-div1	SPRTN	0.861641339	5.22E-15	Unclassified	BrainSpLMD|83932	OMIM|616086;HPO|83932|Autosomal recessive inheritance, Bulbous nose, Decreased body weight, Delayed skeletal maturation, Down-sloping shoulders, Elbow flexion contracture, Frontal bossing, Hepatocellular carcinoma, Lipodystrophy, Micrognathia, Pectus excavatum, Pes planus, Posterior subcapsular cataract, Prominent nasal bridge, Short stature, Skeletal muscle atrophy, Thoracic kyphoscoliosis, Triangular face
RG-div1	HNRNPL	0.35131927	5.33E-15	Ribonucleoprotein	BrainSpLMD|3191	OMIM|603083
RG-div1	NLGN1	0.638099294	5.55E-15	Adhesion molecule	BrainSpLMD|22871	SFARI||Autism, 3 - Suggestive evidence;OMIM|600568
RG-div1	FAM184A	0.654870236	5.77E-15	Unclassified	BrainSpLMD|79632;Eurexp|euxassay_016295|mantle layer	
RG-div1	ZCCHC8	0.40243593	6.22E-15	Unclassified	BrainSpLMD|55596	OMIM|616381;COSMIC||Spitzoid tumour
RG-div1	ACP1	0.258358553	6.44E-15	Enzyme: Acid phosphatase	BrainSpLMD|52;Eurexp|euxassay_003011|calyces, chondrocranium, incisor, lobe, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|171500
RG-div1	RSRC1	0.32485279	6.88E-15	Unclassified	BrainSpLMD|51319	OMIM|613352
RG-div1	RPL22L1	0.394381051	6.99E-15	Unclassified		
RG-div1	GNPDA1	0.314718109	6.99E-15	Enzyme: Deaminase	BrainSpLMD|10007	OMIM|601798
RG-div1	MYL12A	0.489809973	7.22E-15	Calcium binding protein	BrainSpLMD|10627	
RG-div1	CCDC14	0.326572383	7.22E-15	Transport/cargo protein	BrainSpLMD|64770	OMIM|617147
RG-div1	FOXK1	0.842311052	7.44E-15	Transcription factor	Eurexp|euxassay_010907|floor plate, floorplate, mantle layer;BrainSpMouseDev|17193	OMIM|616302
RG-div1	SEPHS1	0.999273971	7.55E-15	Enzyme: Synthase	BrainSpLMD|22929	OMIM|600902
RG-div1	GNL2	0.433320326	7.55E-15	GTPase	BrainSpLMD|29889;Eurexp|euxassay_001872|cervical, cervico-thoracic, cortex, dorsal root ganglion, thymus primordium, vibrissa	OMIM|609365
RG-div1	LINC00998	0.611318147	7.77E-15			
RG-div1	NAP1L1	0.329386856	7.99E-15	Transcription regulatory protein	BrainSpLMD|4673;Eurexp|euxassay_005511|nucleus pulposus	OMIM|164060
RG-div1	DCAF7	0.28491496	7.99E-15	Unclassified	BrainSpLMD|10238;BrainSpMouseDev|47674	OMIM|605973
RG-div1	C12orf65	0.262978763	7.99E-15	Unclassified	BrainSpLMD|91574	OMIM|613541;HPO|91574|Abnormality of color vision, Areflexia, Ataxia, Autosomal recessive inheritance, Developmental regression, Distal sensory impairment, Dysarthria, Facial diplegia, Failure to thrive, Generalized hypotonia, Global developmental delay, Increased CSF lactate, Increased serum lactate, Intellectual disability, Nystagmus, Ophthalmoplegia, Optic atrophy, Paralytic ileus, Progressive, Ptosis, Skeletal muscle atrophy, Spasticity, Strabismus, Visual impairment
RG-div1	SFXN5	0.886476119	8.10E-15	Transport/cargo protein	BrainSpLMD|94097;Eurexp|euxassay_014475|ventricular layer	OMIM|615572
RG-div1	MRE11A	0.417813414	8.55E-15			
RG-div1	HAUS1	0.410056777	9.21E-15	Cell cycle control protein	BrainSpLMD|115106;Eurexp|euxassay_003161|chondrocranium, cortex, incisor, lobe, oesophagus, pancreas, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|608775
RG-div1	MKLN1	0.264861777	9.33E-15	Adhesion molecule	BrainSpLMD|4289	OMIM|605623
RG-div1	S100PBP	0.913815267	9.55E-15	Unclassified	BrainSpLMD|64766	OMIM|611889
RG-div1	TSEN15	0.916394161	9.99E-15	Ribonuclease	BrainSpLMD|116461	OMIM|608756;HPO|116461|Autosomal recessive inheritance, Congenital onset, Generalized hypotonia, Intellectual disability, Progressive microcephaly, Variable expressivity
RG-div1	ANGPTL1	1.186041091	1.02E-14	Secreted polypeptide	BrainSpLMD|9068;Eurexp|euxassay_011312|axial skeleton, basioccipital bone, basisphenoid bone, cartilaginous ring, diaphragm, greater sac, handplate, mesenchyme, midgut, naris, oesophagus, orbito-sphenoid, otic capsule, peritoneal cavity, rectum, rib, skeletal muscle, sternum, turbinate bones, valve;BrainSpMouseDev|48554	OMIM|603874
RG-div1	HIBCH	0.450373382	1.02E-14	Enzyme: Hydrolase	BrainSpLMD|26275	OMIM|610690;HPO|26275|Abnormal facial shape, Abnormal vertebral morphology, Agenesis of corpus callosum, Aminoaciduria, Autosomal recessive inheritance, Developmental regression, Dysmetria, Dystonia, Epicanthus, Feeding difficulties, Generalized hypotonia, Global developmental delay, Infantile onset, Muscular hypotonia, Myoclonus, Nystagmus, Seizures, Strabismus, Tetralogy of Fallot
RG-div1	DNAJC24	0.416923424	1.03E-14	Heat shock protein	BrainSpLMD|120526	OMIM|611072
RG-div1	RAD18	0.350324112	1.09E-14	DNA binding protein	BrainSpLMD|56852	OMIM|605256
RG-div1	IVD	1.006049664	1.12E-14	Enzyme: Dehydrogenase	BrainSpLMD|3712	OMIM|607036;HPO|3712|Autosomal recessive inheritance, Bone marrow hypocellularity, Coma, Dehydration, Global developmental delay, Hyperglycinuria, Ketoacidosis, Lethargy, Leukopenia, Metabolic acidosis, Pancytopenia, Seizures, Thrombocytopenia, Vomiting
RG-div1	MLH1	0.542959286	1.12E-14	DNA repair protein	BrainSpLMD|4292	OMIM|120436;COSMIC||colorectal, endometrial, ovarian, CNS tumours, colorectal, endometrial, ovarian, CNS;HPO|4292|Abdominal pain, Abnormality of abdomen morphology, Adenoma sebaceum, Anxiety, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary freckling, Basal cell carcinoma, Benign gastrointestinal tract tumors, Benign genitourinary tract neoplasm, Breast carcinoma, Cafe-au-lait spot, Colon cancer, Colonic diverticula, Constipation, Death in early adulthood, Death in infancy, Depressivity, Duodenal adenocarcinoma, Ependymoma, Fatigue, Gastrointestinal hemorrhage, Glioblastoma, Hypermelanotic macule, Hypertonia, Increased intracranial pressure, Irritability, Laryngeal carcinoma, Leukemia, Lymphoma, Malabsorption, Malignant genitourinary tract tumor, Medulloblastoma, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Neoplasm of the stomach, Neuroblastoma, Rhabdomyosarcoma, Sebaceous gland carcinoma, Seizures, Weight loss
RG-div1	TECR	0.463049483	1.17E-14	Enzyme: Reductase	BrainSpLMD|9524;Eurexp|euxassay_004555|cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, marginal layer, neural retina, nucleus pulposus, rib, right lung, stroma, submandibular gland primordium, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610057;HPO|9524|Autosomal recessive inheritance, Delayed speech and language development, Intellectual disability, Narrow palate
RG-div1	NEDD4	1.039842054	1.20E-14	Ubiquitin proteasome system protein	BrainSpLMD|4734;Eurexp|euxassay_018441|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|602278
RG-div1	MLLT10	0.497338996	1.23E-14	Transcription factor	BrainSpLMD|8028	OMIM|602409;COSMIC||AL
RG-div1	GRB14	0.656536325	1.24E-14	Adapter molecule	BrainSpLMD|2888;Eurexp|euxassay_012213|dorsal root ganglion, mantle layer, nucleus pulposus, trigeminal V	OMIM|601524
RG-div1	MOB1A	0.517498148	1.31E-14	Unclassified	BrainSpLMD|55233	OMIM|609281
RG-div1	PDIA4	0.508818559	1.35E-14	Chaperone	BrainSpLMD|9601;Eurexp|euxassay_000803|basal plate, telencephalon, ventricular layer	
RG-div1	CTDSPL2	0.418674472	1.39E-14	Unclassified	BrainSpLMD|51496	
RG-div1	AP3M1	0.36363466	1.44E-14	Transport/cargo protein	BrainSpLMD|26985	OMIM|610366
RG-div1	RP11.168J18.6	0.507675652	1.52E-14			
RG-div1	FOXN2	0.472469294	1.57E-14	DNA binding protein	BrainSpLMD|3344;Eurexp|euxassay_019499|incisor, liver, lung, mandible, mantle layer, marginal layer, maxilla, molar, submandibular gland primordium, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|14013	OMIM|143089
RG-div1	MLF1	0.649809291	1.60E-14	Unclassified	BrainSpLMD|4291;Eurexp|euxassay_009918|choroid invagination, choroid plexus, roof plate	OMIM|601402;COSMIC||AML
RG-div1	SLC20A1	0.476835409	1.60E-14	Membrane transport protein	BrainSpLMD|6574;Eurexp|euxassay_009182|brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, liver, marginal layer, metanephros, midgut, primitive seminiferous tubules, spinal cord, submandibular gland primordium, thoracic, trigeminal V, vagus X	OMIM|137570
RG-div1	GPR180	0.708539658	1.64E-14	G protein coupled receptor	BrainSpLMD|160897	OMIM|607787
RG-div1	RASSF8	0.999439946	1.67E-14	Unclassified	BrainSpLMD|11228;Eurexp|euxassay_008525|mantle layer	OMIM|608231
RG-div1	APBB2	0.570194955	1.67E-14	Adapter molecule	BrainSpLMD|323;Eurexp|euxassay_007659|corpus striatum, mantle layer, nasal septum, neural retina, turbinate bones, ventral grey horn	OMIM|602710
RG-div1	MGST3	0.496460963	1.72E-14	Enzyme: Glutathione transferase	BrainSpLMD|4259;Eurexp|euxassay_015092|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, neural retina, olfactory, spinal cord, stomach, stroma, thoracic, trigeminal V, urethra, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42290	OMIM|604564
RG-div1	GLUD1	0.498820508	1.79E-14	Enzyme: Dehydrogenase	BrainSpLMD|2746	OMIM|138130;HPO|2746|Asymptomatic hyperammonemia, Autosomal dominant inheritance, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability
RG-div1	RP11.758P17.3	0.633564562	1.85E-14			
RG-div1	IQGAP1	0.387775906	1.92E-14	GTPase activating protein	BrainSpLMD|8826;Eurexp|euxassay_010153|choroid plexus, epithelium, hindgut, lung, mandible, metanephros, midgut, oral epithelium, orbito-sphenoid, vibrissa	OMIM|603379
RG-div1	PDLIM5	0.689156195	1.95E-14	Adapter molecule	BrainSpLMD|10611;Eurexp|euxassay_011640|alar columns, axial skeleton, bladder, choroid plexus, clavicle, dorsal grey horn, floor plate, floorplate, mesenchyme, metanephros, midgut, oesophagus, stomach, submandibular gland primordium, trachea, urethra, ventral grey horn, ventricular layer	OMIM|605904
RG-div1	CEP128	0.399293858	2.00E-14	Unclassified	BrainSpLMD|145508	
RG-div1	MYO6	0.363447635	2.18E-14	Motor protein	BrainSpLMD|4646	OMIM|600970;HPO|4646|Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment
RG-div1	FAM182B	1.184532172	2.21E-14			
RG-div1	AC107081.5	0.553508812	2.32E-14			
RG-div1	SIVA1	0.67439198	2.45E-14	Unclassified;Cell surface receptor	BrainSpLMD|10572	OMIM|605567
RG-div1	ACTN1	0.585374334	2.46E-14	Cytoskeletal associated protein;Structural protein	BrainSpLMD|87	OMIM|102575;HPO|87|Anisocytosis, Autosomal dominant inheritance, Increased mean platelet volume, Thrombocytopenia
RG-div1	WASF3	0.39709533	2.52E-14	Cytoskeletal associated protein	BrainSpLMD|10810;Eurexp|euxassay_003179|adrenal gland, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, spinal cord, thoracic, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|605068
RG-div1	RAB8A	0.563581179	2.53E-14	GTPase	BrainSpLMD|4218	OMIM|165040
RG-div1	EFTUD2	0.406453754	2.59E-14	Unclassified	BrainSpLMD|9343	OMIM|603892;HPO|9343|Abnormality of the antihelix, Absent tragus, Accessory oral frenulum, Anteverted nares, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Choanal atresia, Cleft palate, Conductive hearing impairment, Deep philtrum, Delayed speech and language development, Downslanted palpebral fissures, Epicanthus, Feeding difficulties, Feeding difficulties in infancy, Global developmental delay, Hypoplasia of the maxilla, Intellectual disability, Large earlobe, Low-set ears, Malar flattening, Mandibulofacial dysostosis, Microcephaly, Micrognathia, Microtia, Midface retrusion, Morphological abnormality of the middle ear, Overfolded helix, Postnatal microcephaly, Preauricular skin tag, Preaxial hand polydactyly, Progressive microcephaly, Respiratory distress, Short nose, Short stature, Slender finger, Telecanthus, Trigonocephaly, Underdeveloped tragus, Upslanted palpebral fissure
RG-div1	RHNO1	0.973417432	2.70E-14	Unclassified	BrainSpLMD|83695;Eurexp|euxassay_001503|cortex, neural retina, ventricular layer	OMIM|614085
RG-div1	AP000962.2	0.44717298	2.76E-14			
RG-div1	SOX21	1.026971369	2.80E-14	Transcription factor	BrainSpLMD|11166;BrainSpMouseDev|85888	OMIM|604974
RG-div1	CTPS1	0.766988771	2.80E-14	Enzyme: Ligase	BrainSpLMD|1503	OMIM|123860;HPO|1503|Autosomal recessive inheritance, Defective T cell proliferation, Immunodeficiency, Immunoglobulin IgG2 deficiency, Lymphopenia, Severe viral infections
RG-div1	NACC2	0.703891554	3.01E-14	Unclassified	BrainSpLMD|138151;Eurexp|euxassay_003015|basal plate, calyces, incisor, limb, marginal layer, molar, submandibular gland primordium, tail	OMIM|615786
RG-div1	ANAPC16	0.289531397	3.04E-14	Unclassified	BrainSpLMD|119504	OMIM|613427
RG-div1	UFL1	0.341989984	3.13E-14	Unclassified	BrainSpLMD|23376	OMIM|613372
RG-div1	SP1	0.629984432	3.26E-14	Transcription factor	BrainSpLMD|6667	OMIM|189906
RG-div1	CEP89	0.523830563	3.57E-14	Unclassified	BrainSpLMD|84902	OMIM|615470;COSMIC||Spitzoid tumour
RG-div1	IFT81	0.481245135	3.63E-14	Unclassified	BrainSpLMD|28981	OMIM|605489
RG-div1	PROSER3	0.975206056	3.69E-14	Unclassified	BrainSpLMD|148137	
RG-div1	WDR76	0.623206778	3.69E-14	Unclassified	BrainSpLMD|79968	
RG-div1	MRPL17	0.958820672	3.70E-14	Ribosomal subunit	BrainSpLMD|63875;Eurexp|euxassay_010706|axial skeleton, clavicle, liver, mandible, maxilla, orbito-sphenoid, rib, submandibular gland primordium, thymus primordium, turbinate bones	OMIM|611830
RG-div1	AKIRIN1	0.462741651	3.87E-14	Unclassified	BrainSpLMD|79647;Eurexp|euxassay_003462|Meckel's cartilage, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, left lung, mantle layer, molar, oesophagus, olfactory, orbito-sphenoid, right lung, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|615164
RG-div1	RFX2	0.273456644	3.89E-14	DNA binding protein	BrainSpLMD|5990;Eurexp|euxassay_019670|floorplate, lobe, olfactory, ventricular layer;BrainSpMouseDev|19488	OMIM|142765
RG-div1	NUP205	0.624414901	3.90E-14	Unclassified		OMIM|614352;HPO|23165|Autosomal recessive inheritance, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome
RG-div1	MYO3A	0.748780448	4.22E-14	Structural protein	BrainSpLMD|53904	OMIM|606808;HPO|53904|Autosomal recessive inheritance, Progressive hearing impairment, Progressive sensorineural hearing impairment
RG-div1	HNRNPA3P6	0.706499958	4.26E-14			
RG-div1	WDPCP	1.038318654	4.30E-14	Unclassified	BrainSpLMD|51057;Eurexp|euxassay_014120|choroid invagination, choroid plexus, epithelium, floor plate, floorplate, larynx, mantle layer, naso-lacrimal duct, olfactory, oral epithelium, roof plate, tegmentum	OMIM|613580;HPO|51057|2-3 finger syndactyly, Abnormal electroretinogram, Aplasia/Hypoplasia of the iris, Autosomal recessive inheritance, Benign neoplasm of the central nervous system, Broad hallux, Cataract, Chorioretinal abnormality, Cleft palate, Coarctation of aorta, Complete atrioventricular canal defect, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Encephalocele, Full cheeks, Hamartoma of tongue, Hypertelorism, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Lobar holoprosencephaly, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Nystagmus, Obesity, Oligohydramnios, Optic atrophy, Patent ductus arteriosus, Pigmentary retinopathy, Postaxial foot polydactyly, Postaxial hand polydactyly, Sclerocornea, Short stature, Sloping forehead, Subvalvular aortic stenosis, Talipes
RG-div1	FAM60A	0.455343912	4.40E-14			
RG-div1	CEP44	0.562027617	4.44E-14	Unclassified	BrainSpLMD|80817	
RG-div1	CDV3	0.253347589	4.57E-14	Unclassified	BrainSpLMD|55573	
RG-div1	PRIM2	1.377060782	4.67E-14	RNA polymerase	BrainSpLMD|5558;Eurexp|euxassay_018428|incisor, left, marginal layer, molar, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|176636
RG-div1	SLC43A3	0.445791753	4.79E-14	Membrane transport protein	BrainSpLMD|29015	
RG-div1	WDR1	0.809762134	4.81E-14	Unclassified	BrainSpLMD|9948	OMIM|604734
RG-div1	TMED5	0.653514088	4.91E-14	Unclassified	BrainSpLMD|50999	OMIM|616876
RG-div1	JPH1	1.150652817	5.17E-14	Cell junction protein	BrainSpLMD|56704	OMIM|605266;HPO|56704|Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Axonal regeneration, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Infantile onset, Kyphoscoliosis, Proximal muscle weakness, Split hand, Talipes equinovarus
RG-div1	TLE1	0.459901167	5.32E-14	Transcription regulatory protein	BrainSpLMD|7088;Eurexp|euxassay_017921|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, pituitary, stroma, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|21644	OMIM|600189
RG-div1	DMPK	0.694191011	5.47E-14	Serine/threonine kinase	BrainSpLMD|1760	SFARI||Autism, No category;OMIM|605377;HPO|1760|Abnormal hair quantity, Abnormality of cardiovascular system morphology, Abnormality of the endocrine system, Autosomal dominant inheritance, Cataract, Cerebral atrophy, Cholelithiasis, Decreased fetal movement, Dysphagia, EMG abnormality, Excessive daytime sleepiness, Facial diplegia, Facial palsy, Feeding difficulties in infancy, First degree atrioventricular block, Frontal balding, Generalized hypotonia, Hypertonia, Hypogonadism, Intellectual disability, progressive, Intellectual disability, severe, Mask-like facies, Muscle weakness, Muscular hypotonia, Myotonia, Obsessive-compulsive trait, Polyhydramnios, Respiratory distress, Skeletal muscle atrophy, Testicular atrophy
RG-div1	FKBP10	0.812698387	5.52E-14	Unclassified	BrainSpLMD|60681	OMIM|607063;HPO|60681|Abnormality of the skin, Ankle contracture, Aplasia/Hypoplasia of the patella, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Biconcave vertebral bodies, Blue sclerae, Brachycephaly, Coxa vara, Dentinogenesis imperfecta, Elbow flexion contracture, Elevated alkaline phosphatase, Gait disturbance, Hip contracture, Increased susceptibility to fractures, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Protrusio acetabuli, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes, Talipes equinovarus, Triangular face, Vertebral compression fractures, Vertebral wedging, Wormian bones
RG-div1	DNAJC27	0.287111996	5.95E-14	GTPase	BrainSpLMD|51277	OMIM|613527
RG-div1	SLC4A8	0.529456363	6.45E-14	Membrane transport protein	BrainSpLMD|9498;Eurexp|euxassay_002110|adrenal gland, brain, calyces, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, pelvis, spinal cord, stroma, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|605024
RG-div1	PRPS1	1.012625837	6.51E-14	Enzyme: Ligase	BrainSpLMD|5631	OMIM|311850;HPO|5631|Abnormal nerve conduction velocity, Absent speech, Areflexia, Areflexia of lower limbs, Ataxia, Childhood onset, Death in infancy, Decreased nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Drooling, Dysphagia, Gait disturbance, Generalized hypotonia, Global developmental delay, Gout, Growth delay, Hearing impairment, Hyperuricosuria, Immunodeficiency, Impaired pain sensation, Intellectual disability, Motor delay, Muscle mounding, Muscle weakness, Muscular hypotonia, Neonatal hypotonia, Nystagmus, Onion bulb formation, Optic atrophy, Peripheral neuropathy, Pes cavus, Polyneuropathy, Progressive muscle weakness, Progressive visual loss, Recurrent infections, Recurrent upper respiratory tract infections, Renal insufficiency, Respiratory insufficiency, Segmental peripheral demyelination/remyelination, Seizures, Sensorineural hearing impairment, Sensory neuropathy, Skeletal muscle hypertrophy, Spinal cord posterior columns myelin loss, Tetraplegia, Uric acid nephrolithiasis, Variable expressivity, Visual impairment, Visual loss, X-linked recessive inheritance
RG-div1	USP16	0.291875263	6.68E-14	Ubiquitin proteasome system protein	BrainSpLMD|10600	OMIM|604735
RG-div1	RABL3	0.403883012	6.69E-14	GTPase		
RG-div1	NUDT19	0.348234679	6.71E-14	Unclassified	Eurexp|euxassay_008589|hindgut, left, midgut, pancreas, right	
RG-div1	CNKSR3	0.996834909	7.32E-14	Unclassified	BrainSpLMD|154043	OMIM|617476
RG-div1	FADS1	0.401237573	7.48E-14	Enzyme: Oxidoreductase	BrainSpLMD|3992;Eurexp|euxassay_000686|adrenal gland, testis	OMIM|606148
RG-div1	PLOD2	1.194966071	7.54E-14	Enzyme: Hydroxylase	BrainSpLMD|5352;Eurexp|euxassay_008722|axial skeleton, basisphenoid bone, clavicle, exoccipital bone, mesenchyme, nasal septum, otic capsule, petrous part, rib, sternum, tongue, trachea, turbinate	OMIM|601865;HPO|5352|Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Elbow flexion contracture, Femoral bowing, Flexion contracture, Hydroxyprolinuria, Increased susceptibility to fractures, Inguinal hernia, Joint stiffness, Knee flexion contracture, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes equinovarus, Triangular face, Wormian bones
RG-div1	PLSCR1	1.164602856	7.55E-14	Integral membrane protein	BrainSpLMD|5359;Eurexp|euxassay_008744|calyces, hindgut, midgut, pelvis	OMIM|604170
RG-div1	WBP11	0.358029269	7.58E-14	RNA binding protein	BrainSpLMD|51729	
RG-div1	ANKHD1	0.647024279	8.17E-14	Unclassified		OMIM|610500
RG-div1	UBXN4	0.407571078	8.45E-14	Unclassified	BrainSpLMD|23190;Eurexp|euxassay_008244|embryo	OMIM|611216
RG-div1	LPP	0.275244466	8.54E-14	Unclassified	BrainSpLMD|4026	OMIM|600700;COSMIC||lipoma, leukaemia
RG-div1	ZNFX1	0.77215332	8.74E-14	Transcription regulatory protein	BrainSpLMD|57169	
RG-div1	RAD51B	1.472252129	8.76E-14	DNA repair protein	BrainSpLMD|5890;Eurexp|euxassay_010063|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vagus X, ventral grey horn	OMIM|602948;COSMIC||lipoma, uterine leiomyoma
RG-div1	CNOT1	0.276934803	8.93E-14	Transcription regulatory protein	BrainSpLMD|23019	OMIM|604917
RG-div1	H1F0	0.482631445	8.98E-14	DNA binding protein	BrainSpLMD|3005;Eurexp|euxassay_006503|embryo	OMIM|142708
RG-div1	ZFP91	0.380501643	9.98E-14	Transcription factor	BrainSpLMD|80829	
RG-div1	PTPLAD1	0.260732455	1.03E-13			
RG-div1	COPS6	0.253246617	1.04E-13	Cell cycle control protein	BrainSpLMD|10980	OMIM|614729
RG-div1	XPOT	0.523905599	1.05E-13	Transport/cargo protein	BrainSpLMD|11260	OMIM|603180
RG-div1	IPO5	0.361592987	1.06E-13	Transport/cargo protein	BrainSpLMD|3843	OMIM|602008
RG-div1	RANBP17	1.020079125	1.12E-13	Transport/cargo protein	BrainSpLMD|64901	SFARI||Autism, 2 - Strong candidate;OMIM|606141
RG-div1	ERLIN1	0.974035775	1.14E-13	Unclassified	BrainSpLMD|10613	OMIM|611604;HPO|10613|Autosomal recessive inheritance, Clonus, Difficulty walking, Lower limb spasticity, Progressive, Spastic gait, Tip-toe gait
RG-div1	LSM14A	0.375638205	1.22E-13	Unclassified	BrainSpLMD|26065	OMIM|610677;COSMIC||Spitzoid tumour
RG-div1	OMD	0.936875596	1.25E-13	Adhesion molecule	BrainSpLMD|4958	COSMIC||aneurysmal bone cyst
RG-div1	SEC22C	0.373253752	1.27E-13	Integral membrane protein	BrainSpLMD|9117	OMIM|604028
RG-div1	PGRMC2	0.342619079	1.31E-13	Integral membrane protein	BrainSpLMD|10424;Eurexp|euxassay_007705|facial VII, mantle layer, pharyngo-tympanic tube, submandibular gland primordium, trigeminal V, vagus X;BrainSpMouseDev|46645	OMIM|607735
RG-div1	OXR1	0.314250975	1.36E-13	Unclassified	BrainSpLMD|55074	OMIM|605609
RG-div1	C1orf112	1.409939293	1.44E-13	Unclassified		
RG-div1	TXNDC12	0.7612584	1.46E-13	Enzyme: Reductase	BrainSpLMD|51060	OMIM|609448
RG-div1	PDE4B	0.320686093	1.46E-13	Enzyme: Phosphodiesterase	BrainSpLMD|5142;Eurexp|euxassay_018064|cochlea, mantle layer, utricle	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600127
RG-div1	SRBD1	0.504931867	1.47E-13	Unclassified	BrainSpLMD|55133;Eurexp|euxassay_009989|olfactory, thymus primordium	
RG-div1	ABHD4	1.316446801	1.50E-13	Unclassified	BrainSpLMD|63874;Eurexp|euxassay_001761|dorsal root ganglion, marginal layer, trigeminal V, ventricular layer;BrainSpMouseDev|69666	
RG-div1	TIFA	1.323209059	1.51E-13	Adapter molecule	BrainSpLMD|92610;Eurexp|euxassay_008615|liver, midgut, thymus primordium, trigeminal V, ventricular layer	OMIM|609028
RG-div1	JDP2	1.454912937	1.52E-13	Transcription factor	BrainSpLMD|122953;Eurexp|euxassay_016441|axial skeleton, dorsal root ganglion, facial VII, femur, glossopharyngeal IX, humerus, mandible, mantle layer, maxilla, neural retina, phalanx, scapula, trigeminal V, vagus X, ventral grey horn;BrainSpMouseDev|57385	OMIM|608657
RG-div1	TRIOBP	0.510362957	1.57E-13	Cytoskeletal associated protein	BrainSpLMD|11078	OMIM|609761;HPO|11078|Autosomal recessive inheritance, Infantile onset, Severe sensorineural hearing impairment
RG-div1	NHLRC2	0.510310316	1.61E-13	Unclassified	BrainSpLMD|374354;Eurexp|euxassay_000151|incisor, inferior, oculomotor III, olfactory I, optic II, trigeminal V, vagus X, valve, ventricular layer	
RG-div1	NKAIN3	0.586255255	1.62E-13	Unclassified	BrainSpLMD|286183	OMIM|612872
RG-div1	SHMT2	0.644143563	1.70E-13	Enzyme: Methyltransferase	BrainSpLMD|6472;Eurexp|euxassay_001650|axial skeleton, neural retina, nucleus pulposus, orbito-sphenoid, pituitary, submandibular gland primordium, vibrissa	OMIM|138450
RG-div1	PDS5B	0.287707497	1.71E-13	Transcription factor	BrainSpLMD|23047	OMIM|605333
RG-div1	METTL4	0.958551123	1.72E-13	Enzyme: Methyltransferase	BrainSpLMD|64863	
RG-div1	PSMB3	0.289152264	1.79E-13	Ubiquitin proteasome system protein	BrainSpLMD|5691;Eurexp|euxassay_003314|dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, incisor, molar, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|602176
RG-div1	PHLPP1	0.369113266	1.83E-13	Unclassified	BrainSpLMD|23239;Eurexp|euxassay_010722|ventricular layer	OMIM|609396
RG-div1	SNORA72	0.455255018	2.00E-13			
RG-div1	IQCB1	0.320493729	2.02E-13	Unclassified	BrainSpLMD|9657;Eurexp|euxassay_012492|ventricle, ventricular layer	OMIM|609237;HPO|9657|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Aplasia/Hypoplasia of the cerebellar vermis, Autosomal recessive inheritance, Cataract, Encephalocele, Global developmental delay, Hemiplegia/hemiparesis, Heterogeneous, Hypertension, Keratoconus, Muscular hypotonia, Nephronophthisis, Nystagmus, Premature ovarian insufficiency, Progressive visual loss, Retinal dystrophy, Rod-cone dystrophy, Seizures, Severe visual impairment, Short stature, Stage 5 chronic kidney disease, Visual impairment
RG-div1	NFYC	0.704562637	2.07E-13	Transcription factor	BrainSpLMD|4802;BrainSpMouseDev|17813	OMIM|605344
RG-div1	TRIM9	0.594666771	2.41E-13	Unclassified	BrainSpLMD|114088;Eurexp|euxassay_010509|mantle layer, molar, ventricular layer	OMIM|606555
RG-div1	NUP153	0.299698596	2.50E-13	Transport/cargo protein	BrainSpLMD|9972	OMIM|603948
RG-div1	SMAD3	1.125238608	2.52E-13	Transcription regulatory protein	BrainSpLMD|4088;Eurexp|euxassay_002759|dorsal grey horn, oesophagus, pharyngo-tympanic tube, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|16897	OMIM|603109;COSMIC||colorectal carcinoma, oral squamous cell carcinoma;HPO|4088|Abnormality of the iris, Abnormality of the sternum, Aortic aneurysm, Aortic dissection, Aortic regurgitation, Arachnodactyly, Arterial tortuosity, Ascending aortic dissection, Atrial fibrillation, Autosomal dominant inheritance, Bruising susceptibility, Camptodactyly, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Dental malocclusion, Descending aortic dissection, Dural ectasia, Exertional dyspnea, High palate, Hip osteoarthritis, Hypertelorism, Hypertension, Inguinal hernia, Intervertebral disc degeneration, Joint laxity, Knee osteoarthritis, Left ventricular failure, Left ventricular hypertrophy, Mitral regurgitation, Mitral valve prolapse, Osteochondritis Dissecans, Paroxysmal dyspnea, Pes planus, Protrusio acetabuli, Scoliosis, Spondylolisthesis, Striae distensae, Umbilical hernia, Uterine prolapse
RG-div1	NOC3L	0.263908229	2.56E-13	Unclassified	BrainSpLMD|64318;Eurexp|euxassay_001504|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, nucleus pulposus, olfactory, thoracic, trigeminal V, urethra, vagus X, ventral grey horn	OMIM|610769
RG-div1	TMEM245	0.426646349	2.67E-13	Integral membrane protein	BrainSpLMD|23731;Eurexp|euxassay_000141|dorsal root ganglion, trigeminal V, vagus X, vestibulocochlear VIII	
RG-div1	RGL1	0.837090649	2.77E-13	Guanine nucleotide exchange factor	BrainSpLMD|23179	OMIM|605667
RG-div1	SNTG1	0.484683545	2.81E-13	Adapter molecule	BrainSpLMD|54212	OMIM|608714
RG-div1	OSTC	0.418979615	2.83E-13	Integral membrane protein	BrainSpLMD|58505;Eurexp|euxassay_003969|Meckel's cartilage, clavicle, cranium, rib, turbinate	
RG-div1	CASC4	0.315130147	2.84E-13	Unclassified	BrainSpLMD|113201	SFARI||Autism, 4 - Minimal evidence
RG-div1	HIST1H4E	0.430156608	2.90E-13	DNA binding protein	BrainSpLMD|8367	OMIM|602830
RG-div1	HSPA5	0.406663154	2.97E-13	Chaperone	BrainSpLMD|3309	OMIM|138120
RG-div1	ZNF217	0.594978201	2.99E-13	Transcription factor	BrainSpLMD|7764	OMIM|602967
RG-div1	C2orf69	0.400087079	3.05E-13	Unclassified	BrainSpLMD|205327;Eurexp|euxassay_007579|mandible, maxilla, orbito-sphenoid	
RG-div1	CCT3	0.29387786	3.17E-13	Chaperone	BrainSpLMD|7203	OMIM|600114
RG-div1	PA2G4P4	0.473389019	3.25E-13			
RG-div1	NDUFB5	0.995528015	3.25E-13	Enzyme: Oxidoreductase	BrainSpLMD|4711	OMIM|603841
RG-div1	NECAB1	0.589645825	3.37E-13	Calcium binding protein	BrainSpLMD|64168;Eurexp|euxassay_005971|embryo	
RG-div1	PSPC1	0.438194892	3.40E-13	RNA binding protein	BrainSpLMD|55269;Eurexp|euxassay_006824|embryo	OMIM|612408
RG-div1	FANCL	0.429830796	3.65E-13	Enzyme: Ligase	BrainSpLMD|55120;Eurexp|euxassay_006857|ventricular layer	OMIM|608111;HPO|55120|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Cafe-au-lait spot, Chromosome breakage, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Phenotypic variability, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
RG-div1	C1orf61	0.363034892	3.87E-13	Transcription regulatory protein	BrainSpLMD|10485	
RG-div1	RAD54B	0.88599622	3.89E-13	ATPase	BrainSpLMD|25788	OMIM|604289;HPO|25788|Lymphoma
RG-div1	CTCF	0.406976605	3.94E-13	Transcription regulatory protein	BrainSpLMD|10664	SFARI||Autism, 3 - Suggestive evidence;OMIM|604167;COSMIC||endometrial, breast, head and neck cancer, Mental retardation, autosomal dominant 21;HPO|10664|Abnormality of the dentition, Autosomal dominant inheritance, Cryptorchidism, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hypermetropia, Intellectual disability, Microcephaly, Short stature, Strabismus, Thin vermilion border
RG-div1	MOCS2	0.773094858	3.98E-13	Enzyme: Synthase	BrainSpLMD|4338	OMIM|603708;HPO|4338|Autosomal recessive inheritance, Axonal loss, Cerebral atrophy, Ectopia lentis, Feeding difficulties, Frontal bossing, Full cheeks, Gliosis, Growth delay, Hypertelorism, Hypoplasia of the corpus callosum, Hypouricemia, Increased urinary hypoxanthine, Increased urinary taurine, Long face, Long philtrum, Macrocephaly, Microcephaly, Molybdenum cofactor deficiency, Myoclonic spasms, Nystagmus, Opisthotonus, Peripheral demyelination, Progressive, Short nose, Spastic tetraplegia, Thick vermilion border, Ventriculomegaly, Xanthine nephrolithiasis, Xanthinuria
RG-div1	FAM213A	0.279230241	3.99E-13	Unclassified	BrainSpLMD|84293;Eurexp|euxassay_008864|bladder, brain, calyces, cervical, cervico-thoracic, cochlea, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, incisor, left lung, liver, lung, midgut, molar, naris, nasal cavity, naso-lacrimal duct, olfactory, pelvis, pharyngo-tympanic tube, rectum, retina, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thoracic, trigeminal V, ureter, utricle, vagus X, vestibulocochlear VIII, vibrissa	OMIM|617165
RG-div1	FDPS	0.332178243	4.11E-13	Enzyme: Prenyltransferase	BrainSpLMD|2224;Eurexp|euxassay_005185|adenohypophysis, adrenal gland, axial skeleton, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, limb, liver, lung, mandible, maxilla, mesenchyme, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, paraxial mesenchyme, rectum, retina, skeletal muscle, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|134629;HPO|2224|Cutaneous photosensitivity, Porokeratosis
RG-div1	CCDC15	1.148713797	4.45E-13	Unclassified	BrainSpLMD|80071	
RG-div1	IPO9	0.51361872	4.48E-13	Transport/cargo protein	BrainSpLMD|55705	
RG-div1	TOPORS	0.329034695	4.58E-13	Ubiquitin proteasome system protein	BrainSpLMD|10210	OMIM|609507;HPO|10210|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Attenuation of retinal blood vessels, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Retinal pigment epithelial atrophy, Rod-cone dystrophy, Sensorineural hearing impairment, Visual field defect, Wide nasal bridge
RG-div1	LATS2	1.11704282	4.83E-13	Serine/threonine kinase	BrainSpLMD|26524	OMIM|604861
RG-div1	ITGB1	0.490491184	4.89E-13	Cell surface receptor	BrainSpLMD|3688;Eurexp|euxassay_010970|aorta, bladder, clavicle, floor plate, floorplate, lung, mandible, maxilla, midgut, oesophagus, orbito-sphenoid, rib, stomach, submandibular gland primordium;BrainSpMouseDev|16185	OMIM|135630
RG-div1	SCML1	0.597073071	5.04E-13	Transcription regulatory protein	BrainSpLMD|6322	OMIM|300227
RG-div1	WIPF3	0.278104424	5.25E-13	Cytoskeletal associated protein	BrainSpLMD|644150	OMIM|612432
RG-div1	ERI3	0.290268521	5.35E-13	Unclassified	BrainSpLMD|79033	OMIM|609917
RG-div1	PRDX6	0.644286968	5.42E-13	Enzyme: Peroxidase	BrainSpLMD|9588;Eurexp|euxassay_018727|floor plate, floorplate, hepatic duct, left lung, liver, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, olfactory, pancreas, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|602316
RG-div1	LMNB1	0.615446147	5.53E-13	Structural protein	BrainSpLMD|4001;Eurexp|euxassay_015910|axial skeleton, incisor, lung, marginal layer, metanephros, sublingual gland primordium, thymus primordium, thyroid, trachea, ventricular layer, vertebral axis muscle system	OMIM|150340;HPO|4001|Abnormal pyramidal signs, Abnormality of the urinary system, Adult onset, Ataxia, Autonomic bladder dysfunction, Autonomic erectile dysfunction, Autosomal dominant inheritance, Babinski sign, Constipation, Corpus callosum atrophy, Decreased sweating due to autonomic dysfunction, Depressivity, Diffuse leukoencephalopathy, Dilatation of the bladder, Gait disturbance, Gliosis, Hyperreflexia, Hypotension, Impotence, Leukodystrophy, Nystagmus, Orthostatic hypotension due to autonomic dysfunction, Personality changes, Progressive, Progressive neurologic deterioration, Pseudobulbar paralysis, Spasticity, Symmetric peripheral demyelination, Tetraparesis, Tremor, Urinary urgency
RG-div1	CPT1A	1.005376826	5.81E-13	Enzyme: Palmitoyltransferase	BrainSpLMD|1374;Eurexp|euxassay_017982|adrenal gland, bladder, choroid plexus, dorsal root ganglion, glossopharyngeal IX, hindgut, intermediate grey horn, mantle layer, meninges, metanephros, midgut, pancreas, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|600528;HPO|1374|Arrhythmia, Autosomal recessive inheritance, Behavioral abnormality, Cardiomegaly, Coma, Diarrhea, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Fatigue, Feeding difficulties in infancy, Generalized hypotonia, Hemiplegia/hemiparesis, Hepatic failure, Hepatic steatosis, Hepatomegaly, Hyperammonemia, Hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Loss of consciousness, Muscular hypotonia, Neurological speech impairment, Prenatal maternal abnormality, Recurrent encephalopathy, Reduced tendon reflexes, Renal tubular acidosis, Seizures, Skeletal muscle atrophy, Transient hyperlipidemia
RG-div1	DAG1	0.829510408	5.94E-13	Adhesion molecule	BrainSpLMD|1605	OMIM|128239;HPO|1605|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Absent septum pellucidum, Absent speech, Agenesis of corpus callosum, Ankle contracture, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Autosomal recessive inheritance, Buphthalmos, Cataract, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral calcification, Chorioretinal dysplasia, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Delayed speech and language development, Elevated serum creatine phosphokinase, Generalized hypotonia, Glaucoma, Global developmental delay, Gowers sign, Hydrocephalus, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hyporeflexia, Infantile onset, Intellectual disability, Leukodystrophy, Limb-girdle muscle weakness, Lissencephaly, Lumbar hyperlordosis, Macrocephaly, Macrogyria, Metatarsus valgus, Microphthalmia, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Myopia, Optic atrophy, Pachygyria, Polymicrogyria, Poor head control, Respiratory failure, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Skeletal muscle atrophy, Specific learning disability, Variable expressivity, Ventriculomegaly
RG-div1	APOA1BP	0.783908361	6.26E-13			
RG-div1	CNP	0.406773286	6.51E-13	Enzyme: Phosphodiesterase	BrainSpLMD|1267;BrainSpMouseDev|12582	OMIM|123830
RG-div1	NUDT1	0.276048396	6.68E-13	Enzyme: Hydrolase	BrainSpLMD|4521	OMIM|600312
RG-div1	PDE8B	0.769829309	6.79E-13	Enzyme: Phosphodiesterase	BrainSpLMD|8622;Eurexp|euxassay_003225|adrenal gland, anterior, calyces, dermis, dorsal grey horn, mesenchyme, pancreas, posterior, skin, turbinate bones, ventral grey horn	OMIM|603390;HPO|8622|Adrenal hyperplasia, Autosomal dominant inheritance, Bradykinesia, Degeneration of the striatum, Diabetes mellitus, Dysarthria, Dysdiadochokinesis, Dysphagia, Fatigue, Gait disturbance, Hypertension, Hypogonadism, Hypokinesia, Increased circulating cortisol level, Increased susceptibility to fractures, Lower limb hyperreflexia, Muscle weakness, Osteoporosis, Pigmented micronodular adrenocortical disease, Rigidity, Short stature, Skeletal muscle atrophy, Slender build, Slow progression, Striae distensae, Symmetric lesions of the basal ganglia, Thin skin
RG-div1	DCUN1D3	0.599770751	7.01E-13	Unclassified	BrainSpLMD|123879;BrainSpMouseDev|87722	OMIM|616167
RG-div1	FIGN	0.441755028	7.36E-13	ATPase	BrainSpLMD|55137;Eurexp|euxassay_013646|dorsal grey horn, mantle layer, marginal layer, ventral grey horn	OMIM|605295
RG-div1	B3GALNT2	0.724317993	7.72E-13	Enzyme: Transferase	BrainSpLMD|148789;Eurexp|euxassay_015892|submandibular gland primordium	OMIM|610194;HPO|148789|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Abnormality of the voice, Absent septum pellucidum, Agenesis of corpus callosum, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Autosomal recessive inheritance, Blindness, Cataract, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Chorioretinal dysplasia, Cognitive impairment, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, EEG abnormality, EMG abnormality, Elevated serum creatine phosphokinase, Gait disturbance, Glaucoma, Global developmental delay, Hydrocephalus, Hypertonia, Hypoplasia of penis, Hypoplasia of the pons, Hyporeflexia, Intellectual disability, Lissencephaly, Macrocephaly, Macrogyria, Metatarsus valgus, Microphthalmia, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Myopathy, Myopia, Neurological speech impairment, Optic atrophy, Optic nerve hypoplasia, Pachygyria, Polymicrogyria, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Seizures, Severe muscular hypotonia, Skeletal muscle atrophy, Specific learning disability, Strabismus, Type II lissencephaly, Visual impairment
RG-div1	PM20D2	0.488397433	7.73E-13	Metallo protease		OMIM|615913
RG-div1	CHST10	1.040371171	7.75E-13	Enzyme: Sulphotransferase	BrainSpLMD|9486	OMIM|606376
RG-div1	CNTFR	0.757624885	7.95E-13	Cell surface receptor	BrainSpLMD|1271	OMIM|118946
RG-div1	MDK	0.277649246	8.52E-13	Cytokine	BrainSpLMD|4192;Eurexp|euxassay_000525|anal region, gut, head mesenchyme, lung, mesenchyme, metanephros, penis, physiological umbilical hernia, spleen primordium, trunk mesenchyme, ventricular layer	OMIM|162096
RG-div1	NRM	0.659279759	8.72E-13	Unclassified	BrainSpLMD|11270;Eurexp|euxassay_002983|chondrocranium, nasal capsule, orbito-sphenoid, turbinate, ventricular layer	
RG-div1	SGPL1	0.746805121	8.91E-13	Enzyme: Lyase	BrainSpLMD|8879;Eurexp|euxassay_009987|mantle layer, mesenchyme, metanephros, olfactory, renal/urinary system, thymus primordium	OMIM|603729
RG-div1	PATL1	0.655069355	9.26E-13	Unclassified	BrainSpLMD|219988	OMIM|614660
RG-div1	PTGES3P1	0.73548105	9.50E-13			
RG-div1	PCF11	0.314225418	1.08E-12	RNA binding protein	BrainSpLMD|51585	OMIM|608876
RG-div1	NPM1P6	1.224489417	1.09E-12			
RG-div1	AC004158.2	1.259622056	1.10E-12			
RG-div1	ADHFE1	0.927115526	1.10E-12	Enzyme: Dehydrogenase	BrainSpLMD|137872;Eurexp|euxassay_018617|basisphenoid bone, calyces, exoccipital bone, meninges, nucleus pulposus, orbito-sphenoid, otic capsule, pectoral girdle and thoracic body wall, rib, skeletal muscle, supraoccipital cartilage condensation, turbinate, turbinate bones, ventral grey horn, ventricular layer	OMIM|611083
RG-div1	NUP88	0.281045558	1.15E-12	Transport/cargo protein	BrainSpLMD|4927	OMIM|602552
RG-div1	PBXIP1	1.101687068	1.16E-12	Transcription regulatory protein	BrainSpLMD|57326;Eurexp|euxassay_012529|choroid invagination, choroid plexus, diaphragm, floor plate, floorplate, midgut, skeletal muscle, stomach, ventricle, ventricular layer;BrainSpMouseDev|86886	
RG-div1	ACADM	0.41176568	1.31E-12	Enzyme: Dehydrogenase	BrainSpLMD|34	OMIM|607008;HPO|34|Autosomal recessive inheritance, Cerebral edema, Coma, Decreased plasma carnitine, Elevated hepatic transaminases, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hepatomegaly, Hyperglycinuria, Hypoglycemia, Lethargy, Medium chain dicarboxylic aciduria, Metabolic acidosis, Seizures, Vomiting
RG-div1	PHTF2	0.308370499	1.42E-12	Transcription factor	BrainSpLMD|57157;Eurexp|euxassay_004990|embryo;BrainSpMouseDev|44612	OMIM|616785
RG-div1	SPCS1	0.336825825	1.43E-12	Unclassified	BrainSpLMD|28972;Eurexp|euxassay_008166|mandible, maxilla	OMIM|610358
RG-div1	AAMDC	0.923628531	1.44E-12	Unclassified	BrainSpLMD|28971	
RG-div1	RP2	0.830290511	1.46E-12	Structural protein	BrainSpLMD|6102;Eurexp|euxassay_014375|lung, olfactory	OMIM|300757;HPO|6102|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Blindness, Cataract, Chorioretinal degeneration, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Myopia, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge, X-linked inheritance
RG-div1	TMEM14C	0.365164141	1.51E-12	Integral membrane protein	BrainSpLMD|51522;Eurexp|euxassay_000161|basal plate, biceps, brachialis, cerebral cortex, deltoid, dorsal root ganglion, erector spinae, external oblique, facial VII, floorplate, genioglossus, glossopharyngeal IX, gluteus maximus, hamstring, hyoglossus, ilio-psoas, infraspinatus, inner ear, intrinsic, labyrinth, lateral wall, latissimus dorsi, mantle layer, marginal layer, masseter, midbrain, middle ear, myelohyoid, naso-lacrimal duct, neural retina, otic capsule, palatoglossus, pectoralis major, pectoralis minor, quadratus lumborum, quadriceps, rectus abdominis, retina, roof plate, serratus anterior, skeletal muscle, spinal cord, styloglossus, sublingual gland primordium, submandibular gland primordium, subscapularis, supraspinatus, tegmentum, telencephalon, teres major, thymus primordium, transverse component, transversus abdominis, trapezius, triceps, trigeminal V, vagus X, ventricular layer, vertical component, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|615318
RG-div1	EIF2AK2	0.310420284	1.53E-12	Serine/threonine kinase	BrainSpLMD|5610	OMIM|176871
RG-div1	UFD1L	0.568368311	1.59E-12			
RG-div1	ZNF22	0.51053763	1.63E-12	DNA binding protein	BrainSpLMD|7570;Eurexp|euxassay_004421|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|194529
RG-div1	CBFB	0.451788561	1.70E-12	Transcription factor	BrainSpLMD|865	OMIM|121360;COSMIC||AML
RG-div1	STK33	0.558364559	1.70E-12	Serine/threonine kinase	BrainSpLMD|65975;Eurexp|euxassay_016521|olfactory, ventricular layer, vomeronasal organ	OMIM|607670
RG-div1	TOR1AIP1	0.5349415	1.73E-12	Unclassified	BrainSpLMD|26092	OMIM|614512;HPO|26092|Ankle contracture, Autosomal recessive inheritance, Increased endomysial connective tissue, Slow progression, Spinal rigidity
RG-div1	CRISPLD1	0.989753204	1.84E-12	Secreted polypeptide	BrainSpLMD|83690;Eurexp|euxassay_010145|axial skeleton, basioccipital bone, basisphenoid bone, cartilaginous ring, clavicle, femur, fibula, humerus, mandible, maxilla, meninges, nasal cavity, orbito-sphenoid, petrous part, phalanx, rib, sternum, tarsus, thyroid, tibia, vault of skull	
RG-div1	RP11.553L6.5	0.259452439	1.85E-12			
RG-div1	NOLC1	0.270974254	1.89E-12	Transcription factor	BrainSpLMD|9221	OMIM|602394
RG-div1	BBIP1	0.30865014	1.91E-12			OMIM|613605;HPO|92482|Abnormal electroretinogram, Autosomal recessive inheritance, Brachydactyly, Cataract, Cognitive impairment, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Multicystic kidney dysplasia, Nystagmus, Obesity, Pigmentary retinopathy, Postaxial hand polydactyly, Renal insufficiency, Rod-cone dystrophy, Short stature
RG-div1	CENPH	1.248757116	1.97E-12	DNA binding protein	BrainSpLMD|64946;Eurexp|euxassay_003389|submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|605607
RG-div1	ANO5	0.706518725	2.11E-12	Integral membrane protein	BrainSpLMD|203859	OMIM|608662;HPO|203859|Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Bowing of the long bones, Broad jaw, Calf muscle hypertrophy, Diaphyseal cortical sclerosis, Difficulty climbing stairs, Difficulty running, Distal muscle weakness, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Facial palsy, Increased susceptibility to fractures, Mandibular osteomyelitis, Muscular dystrophy, Myalgia, Osteopenia, Pelvic girdle muscle weakness, Progressive, Proximal muscle weakness, Quadriceps muscle atrophy, Shoulder girdle muscle weakness, Thickened cortex of long bones, Variable expressivity
RG-div1	MIS12	1.070792388	2.14E-12	Cell cycle control protein	BrainSpLMD|79003	OMIM|609178
RG-div1	RHEBP2	0.496893532	2.21E-12			
RG-div1	SUV39H2	0.868567625	2.22E-12	Enzyme: Methyltransferase	BrainSpLMD|79723	OMIM|606503
RG-div1	KIAA0586	0.27148225	2.23E-12	Unclassified	BrainSpLMD|9786	OMIM|610178;HPO|9786|Abnormality of eye movement, Abnormality of the pinna, Anencephaly, Aplastic clavicles, Apnea, Ataxia, Atrial septal defect, Autosomal recessive inheritance, Biparietal narrowing, Cerebellar vermis hypoplasia, Cleft palate, Congenital diaphragmatic hernia, Depressed nasal bridge, Episodic tachypnea, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Hydrocephalus, Hyporeflexia, Intellectual disability, Long face, Low-set ears, Micromelia, Micropenis, Molar tooth sign on MRI, Muscular hypotonia, Narrow chest, Nystagmus, Oculomotor apraxia, Polyhydramnios, Polymicrogyria, Postaxial polydactyly, Preaxial polydactyly, Pulmonary hypoplasia, Retinal coloboma, Short neck, Short ribs, Tachypnea
RG-div1	UQCRC1	0.308961874	2.32E-12	Enzyme: Reductase	BrainSpLMD|7384;Eurexp|euxassay_018647|axial muscle, bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, mantle layer, metanephros, right lung, submandibular gland primordium, trigeminal V, vagus X, ventral grey horn, vibrissa	OMIM|191328
RG-div1	CA12	0.347046492	2.32E-12	Enzyme: Carbonic anhydrase	BrainSpLMD|771;Eurexp|euxassay_018906|choroid plexus, clavicle, epithelium, incisor, molar, nasal septum, olfactory, oral epithelium, submandibular gland primordium, vibrissa	OMIM|603263;HPO|771|Autosomal dominant inheritance, Autosomal recessive inheritance, Dehydration, Failure to thrive, Feeding difficulties, Hyperkalemia, Hyponatremia, Infantile onset
RG-div1	RNU1.27P	0.668917667	2.36E-12			
RG-div1	MZT2B	0.302277398	2.50E-12	Unclassified	BrainSpLMD|80097	OMIM|613450
RG-div1	GCFC2	0.78194805	2.54E-12	Transcription factor	BrainSpLMD|6936	OMIM|189901
RG-div1	TMEM209	0.338480707	2.57E-12	Integral membrane protein	BrainSpLMD|84928;Eurexp|euxassay_004682|ventricular layer	
RG-div1	KIAA1407	0.799738526	2.59E-12			
RG-div1	TTC17	0.36004933	2.66E-12	Unclassified	BrainSpLMD|55761	
RG-div1	FAIM	0.959802532	2.68E-12	Unclassified	BrainSpLMD|55179	OMIM|617535
RG-div1	RNASEH2B	0.275405397	2.86E-12	Unclassified	BrainSpLMD|79621;Eurexp|euxassay_004223|4th ventricle, liver, lung, thymus primordium, ventricular layer	OMIM|610326;HPO|79621|Arrhinencephaly, Autosomal recessive inheritance, Basal ganglia calcification, Cerebral atrophy, Chronic CSF lymphocytosis, Cleft eyelid, Encephalopathy, Hemiplegia/hemiparesis, Intellectual disability, profound, Porencephalic cyst, Spasticity, Variable expressivity
RG-div1	TPGS2	0.292479794	2.90E-12	Unclassified	BrainSpLMD|25941;Eurexp|euxassay_005064|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, molar, neural retina, olfactory, respiratory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	
RG-div1	ASF1A	0.364424179	2.93E-12	Chaperone	BrainSpLMD|25842;Eurexp|euxassay_006843|cortex, incisor, left lung, marginal layer, oesophagus, right lung, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|609189
RG-div1	CDAN1	0.639774497	2.95E-12	Structural protein	BrainSpLMD|146059;Eurexp|euxassay_009002|mantle layer, marginal layer, ventral grey horn	OMIM|607465;HPO|146059|Anisocytosis, Autosomal recessive inheritance, Endopolyploidy on chromosome studies of bone marrow, Erythroid hyperplasia, Hydrops fetalis, Macrocytic dyserythropoietic anemia, Mild postnatal growth retardation, Poikilocytosis, Prolonged neonatal jaundice, Reduced activity of N-acetylglucosaminyltransferase II, Reticulocytosis, Splenomegaly
RG-div1	NPY	0.895112209	3.10E-12	Unclassified	BrainSpLMD|4852;Eurexp|euxassay_000446|basal plate, diencephalon, dorsal grey horn, mantle layer, marginal layer, telencephalon;BrainSpMouseDev|73806	OMIM|162640
RG-div1	DZIP1	0.342212101	3.21E-12	Unclassified	BrainSpLMD|22873;Eurexp|euxassay_006918|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, organ system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|608671
RG-div1	GTF2F2	0.302660349	3.51E-12	Transcription factor	BrainSpLMD|2963	OMIM|189969
RG-div1	ORC3	0.579209506	3.77E-12	DNA binding protein	BrainSpLMD|23595	OMIM|604972
RG-div1	PARD6B	0.787894042	3.83E-12	Adapter molecule	BrainSpLMD|84612	OMIM|608975
RG-div1	ASXL2	0.412298811	3.84E-12	DNA binding protein	BrainSpLMD|55252;Eurexp|euxassay_009229|ventricular layer, vibrissa	OMIM|612991;COSMIC||melanoma, CCRCC, AML;HPO|55252|Atrial septal defect, Autosomal dominant inheritance, Broad nasal tip, Deep palmar crease, Delayed speech and language development, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Highly arched eyebrow, Hypertelorism, Infantile onset, Intellectual disability, Kyphosis, Long face, Low-set ears, Macrocephaly, Phenotypic variability, Posteriorly rotated ears, Proptosis, Ptosis, Retrognathia, Scoliosis, Ventriculomegaly
RG-div1	ACSL3	0.629441468	3.89E-12	Enzyme: Ligase	BrainSpLMD|2181;Eurexp|euxassay_006620|embryo	OMIM|602371;COSMIC||prostate
RG-div1	SMEK1	0.289152699	4.00E-12			
RG-div1	GSTK1	0.280111649	4.06E-12	Enzyme: Glutathione transferase	BrainSpLMD|373156	OMIM|602321
RG-div1	LDLRAD3	0.702973098	4.10E-12	Unclassified	BrainSpLMD|143458;Eurexp|euxassay_011393|dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, stomach, trigeminal V, vagus X, vestibulocochlear VIII	
RG-div1	ATF3	0.793212883	4.13E-12	Transcription regulatory protein	BrainSpLMD|467;Eurexp|euxassay_006681|femur, humerus, ventricle;BrainSpMouseDev|11697	OMIM|603148
RG-div1	CTNNAL1	0.4116671	4.20E-12	Unclassified	BrainSpLMD|8727	OMIM|604785
RG-div1	AHSA1	0.259855208	4.21E-12	Unclassified	BrainSpLMD|10598	OMIM|608466
RG-div1	HDAC3	0.415058529	4.38E-12	Transcription regulatory protein	BrainSpLMD|8841;Eurexp|euxassay_009079|submandibular gland primordium	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605166
RG-div1	EGFR	0.955981395	4.49E-12	Receptor tyrosine kinase	BrainSpLMD|1956;Eurexp|euxassay_002564|axial skeleton, cervical region, diaphragm, epidermis, intermediate grey horn, lumbar region, mandible, mantle layer, maxilla, mesenchyme, nasal septum, phalanx, pharyngo-tympanic tube, primary palate, rib, sacral region, thoracic region, trachea, turbinate bones, upper arm, ventricular layer, vibrissa;BrainSpMouseDev|13427	OMIM|131550;COSMIC||glioma, NSCLC, NSCLC;HPO|1956|Alveolar cell carcinoma, Autosomal recessive inheritance, Epidermal acanthosis, Failure to thrive, Hypertension, Long eyelashes, Papule, Pustule, Recurrent bronchiolitis, Recurrent pneumonia, Vomiting
RG-div1	RRAGD	0.716500209	4.57E-12	G protein	BrainSpLMD|58528	OMIM|608268
RG-div1	PTPRA	0.413883167	4.78E-12	Receptor tyrosine phosphatase	BrainSpLMD|5786;Eurexp|euxassay_007474|embryo	OMIM|176884
RG-div1	PDE8A	0.472763245	4.79E-12	Enzyme: Phosphodiesterase	BrainSpLMD|5151;Eurexp|euxassay_001451|axial skeleton, cranium, pectoral girdle and thoracic body wall, turbinate bones	OMIM|602972
RG-div1	BTBD3	0.636157072	4.80E-12	Unclassified	BrainSpLMD|22903;Eurexp|euxassay_006662|adenohypophysis, anterior, axial skeleton, cartilaginous ring, cervical, cervico-thoracic, clavicle, diaphragm, epithelium, glossopharyngeal IX, lip, mantle layer, marginal layer, mesenchyme, oral epithelium, pectoralis major, pectoralis minor, phalanx, posterior, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|615566
RG-div1	KCNA3	0.482295067	4.90E-12	Voltage gated channel	BrainSpLMD|3738;Eurexp|euxassay_010872|mantle layer	OMIM|176263
RG-div1	RNF213	0.314619793	4.92E-12	Unclassified	BrainSpLMD|57674	OMIM|613768;COSMIC||ALCL;HPO|57674|Abnormality of the cerebral vasculature, Intellectual disability, Seizures, Telangiectasia, Ventriculomegaly
RG-div1	GABPB1	0.402219565	4.98E-12	Transcription factor	BrainSpLMD|2553;BrainSpMouseDev|14167	OMIM|600610
RG-div1	SPICE1	1.530091582	5.01E-12	Unclassified	BrainSpLMD|152185;Eurexp|euxassay_006294|adenohypophysis, neurohypophysis, olfactory, respiratory, testis, thymus primordium, ventricular layer	OMIM|613447
RG-div1	WWTR1	0.893985	5.04E-12	Transcription regulatory protein	BrainSpLMD|25937;Eurexp|euxassay_000592|limb, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|61234	OMIM|607392;COSMIC||epithelioid haemangioendothelioma
RG-div1	AGPAT5	0.340220333	5.04E-12	Enzyme: Transferase	BrainSpLMD|55326;Eurexp|euxassay_004916|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, larynx, lung, metanephros, midgut, molar, olfactory, rectum, respiratory, retina, spinal cord, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vestibulocochlear VIII	OMIM|614796
RG-div1	EIF5A2	0.597496477	5.33E-12	Translation regulatory protein	BrainSpLMD|56648	OMIM|605782
RG-div1	FAM160A2	0.57509922	5.42E-12	Unclassified	BrainSpLMD|84067	
RG-div1	TRIM37	0.492537793	5.43E-12	Ubiquitin proteasome system protein	BrainSpLMD|4591	OMIM|605073;HPO|4591|Absent frontal sinuses, Astigmatism, Autosomal recessive inheritance, Cachexia, Congestive heart failure, Dental crowding, Depressed nasal bridge, Dolichocephaly, Dysarthria, Frontal bossing, Hepatomegaly, High pitched voice, Hypertelorism, Hypodontia, Hypoplastic frontal sinuses, Intrauterine growth retardation, J-shaped sella turcica, Macrocephaly, Microglossia, Muscular hypotonia, Myocardial fibrosis, Nephroblastoma, Nevus, Pericardial constriction, Pigmentary retinopathy, Reduced tendon reflexes, Short stature, Strabismus, Triangular face, Ventriculomegaly, Weak voice, Wide nasal bridge
RG-div1	XRCC1	0.953889666	5.52E-12	DNA repair protein	BrainSpLMD|7515	OMIM|194360
RG-div1	SMCHD1	0.515582776	5.59E-12	Unclassified	BrainSpLMD|23347;Eurexp|euxassay_008416|embryo	OMIM|614982;HPO|23347|Abdominal wall muscle weakness, Abnormality of the eyelashes, Abnormality of the midface, Abnormality of the retinal vasculature, Absent nares, Amblyopia, Anophthalmia, Anosmia, Aplasia of the nose, Autosomal dominant inheritance, Beevor's sign, Blindness, Cataract, Choanal atresia, Cleft palate, Coloboma, Cryptorchidism, Digenic inheritance, EMG abnormality, Elevated serum creatine phosphokinase, Facial palsy, Failure of eruption of permanent teeth, Foot dorsiflexor weakness, Gynecomastia, High palate, Hyperlordosis, Hypertelorism, Hypogonadism, Hypoplasia of penis, Hypoplasia of the olfactory bulb, Hyposmia, Inguinal hernia, Iris coloboma, Mask-like facies, Micropenis, Microphthalmia, Midface retrusion, Misalignment of teeth, Palpebral edema, Pelvic girdle muscle weakness, Primary amenorrhea, Scapulohumeral muscular dystrophy, Sensorineural hearing impairment, Single naris, Skeletal muscle atrophy, Visual loss
RG-div1	GNG11	0.616624983	5.93E-12	G protein	BrainSpLMD|2791	OMIM|604390
RG-div1	FOPNL	0.615160737	6.02E-12	Cytoskeletal protein	BrainSpLMD|123811	OMIM|617149
RG-div1	SFT2D2	0.711270416	6.05E-12	Unclassified	BrainSpLMD|375035	
RG-div1	CLGN	0.658204514	6.09E-12	Chaperone	BrainSpLMD|1047	OMIM|601858
RG-div1	TBC1D31	0.810398773	6.12E-12	Unclassified	BrainSpLMD|93594	SFARI||Autism, No category
RG-div1	CRKL	0.625353745	6.13E-12	Adapter molecule	BrainSpLMD|1399	OMIM|602007;HPO|1399|Abnormality of earlobe, Absent fingernail, Absent toenail, Clinodactyly of the 5th finger, Deeply set eye, Global developmental delay, Highly arched eyebrow, Intellectual disability, Intrauterine growth retardation, Language impairment, Microcephaly, Neoplasm, Pes planus, Pointed chin, Premature birth, Short stature, Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Underdeveloped nasal alae
RG-div1	PRPS2	0.567656871	6.17E-12	Enzyme: Ligase	BrainSpLMD|5634	OMIM|311860
RG-div1	LSM3	0.356742397	6.18E-12	RNA binding protein	BrainSpLMD|27258	OMIM|607283
RG-div1	RFXANK	1.026007029	6.48E-12	Transcription factor	BrainSpLMD|8625	OMIM|603200;HPO|8625|Agammaglobulinemia, Autosomal dominant inheritance, Autosomal recessive inheritance, Biliary tract abnormality, Chronic lymphocytic meningitis, Chronic mucocutaneous candidiasis, Colitis, Cutaneous anergy, Encephalitis, Failure to thrive, Malabsorption, Neutropenia, Panhypogammaglobulinemia, Protracted diarrhea, Recurrent bacterial infections, Recurrent fungal infections, Recurrent lower respiratory tract infections, Recurrent protozoan infections, Recurrent upper respiratory tract infections, Recurrent urinary tract infections, Recurrent viral infections, Villous atrophy, Viral hepatitis
RG-div1	BSG	0.455871795	6.62E-12	Cell surface receptor	BrainSpLMD|682	OMIM|109480
RG-div1	TMEM230	0.432756008	6.73E-12	Integral membrane protein	BrainSpLMD|29058	OMIM|617019
RG-div1	CNIH4	0.302066726	6.78E-12	Unclassified	BrainSpLMD|29097	OMIM|617483
RG-div1	LRRC1	0.320981786	6.90E-12	Unclassified	BrainSpLMD|55227	SFARI||Autism, 4 - Minimal evidence;OMIM|608195
RG-div1	IGSF11	1.380683135	7.14E-12	Adhesion molecule	BrainSpLMD|152404;Eurexp|euxassay_006186|embryo	OMIM|608351
RG-div1	ERH	0.288300405	7.21E-12	Transcription regulatory protein	BrainSpLMD|2079;Eurexp|euxassay_018034|orbito-sphenoid, ventricular layer	OMIM|601191
RG-div1	RP11.138A9.1	1.211655041	7.41E-12			
RG-div1	AAED1	0.308309747	7.49E-12	Unclassified		
RG-div1	APOL2	0.988486629	7.52E-12	Integral membrane protein;Transport/cargo protein	BrainSpLMD|23780;Eurexp|euxassay_010310|liver	OMIM|607252
RG-div1	STARD3NL	0.250044865	7.63E-12	Integral membrane protein	BrainSpLMD|83930;Eurexp|euxassay_012114|Meckel's cartilage, arytenoid, axial skeleton, basioccipital bone, basisphenoid bone, cricoid, femur, fibula, humerus, hyoid bone, metacarpus, metatarsus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, sternum, tarsus, thyroid, tibia, turbinate bones, ulna, vault of skull	OMIM|611759
RG-div1	ACYP1	0.368560144	7.71E-12	Enzyme: Phosphatase	BrainSpLMD|97	OMIM|600875
RG-div1	TBCCD1	0.549956281	7.92E-12	Unclassified	BrainSpLMD|55171;Eurexp|euxassay_010772|liver, pancreas	
RG-div1	GALNT16	0.937381901	8.73E-12	Enzyme: Galactosyltransferase	Eurexp|euxassay_011719|floor plate, floorplate, mantle layer, mesenchyme, ventral grey horn, ventricular layer	OMIM|615132
RG-div1	GUCD1	0.784608453	9.52E-12	Unclassified	BrainSpLMD|83606;Eurexp|euxassay_010826|lobe, metanephros	
RG-div1	STK39	0.328675314	9.56E-12	Serine/threonine kinase	BrainSpLMD|27347	SFARI||Autism, 4 - Minimal evidence;OMIM|607648
RG-div1	LIX1L	0.359358696	9.71E-12	Unclassified	BrainSpLMD|128077	
RG-div1	CTH	0.813013443	9.97E-12	Cysteine protease	BrainSpLMD|1491;Eurexp|euxassay_000513|axial skeleton, cranium, head mesenchyme, incisor, oesophagus, otic capsule, turbinate bones	OMIM|607657;HPO|1491|Autosomal recessive inheritance, Cystathioninuria
RG-div1	NPAT	0.706255536	1.03E-11	Cell cycle control protein	BrainSpLMD|4863	OMIM|601448
RG-div1	ALDH9A1	0.722720201	1.03E-11	Enzyme: Dehydrogenase	BrainSpLMD|223	OMIM|602733
RG-div1	THUMPD2	0.283567236	1.06E-11	Enzyme: Methyltransferase	BrainSpLMD|80745	OMIM|611751
RG-div1	INIP	0.290082797	1.07E-11	Unclassified	BrainSpLMD|58493;Eurexp|euxassay_015774|excretory component, incisor, molar, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|613273
RG-div1	CDYL	0.274047125	1.08E-11	Transcription regulatory protein	BrainSpLMD|9425	OMIM|603778
RG-div1	POLR2J	0.541489402	1.10E-11	RNA polymerase	BrainSpLMD|5439	OMIM|604150
RG-div1	TPM1	0.7418065	1.11E-11	Cytoskeletal associated protein	BrainSpLMD|7168;Eurexp|euxassay_009503|atrium, axial skeleton, bladder, choroid plexus, diaphragm, extrinsic ocular muscle, hindgut, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, liver, lung, mantle layer, mesenchyme, metanephros, midgut, nasal septum, skeletal muscle, skin, stomach, ventral grey horn, ventricle, vertebral axis muscle system, vibrissa	OMIM|191010;HPO|7168|Autosomal dominant inheritance, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular tachycardia
RG-div1	MRC2	1.330399834	1.14E-11	Cell surface receptor	BrainSpLMD|9902;Eurexp|euxassay_009360|mandible, maxilla, meninges, mesenchyme, temporal bone	OMIM|612264
RG-div1	ACAA2	0.628124911	1.18E-11	Enzyme: Acyltransferase	BrainSpLMD|10449;Eurexp|euxassay_018546|bladder, choroid invagination, choroid plexus, epidermis, epithelium, liver, oral epithelium, roof plate, vibrissa	OMIM|604770
RG-div1	POLE	1.028019661	1.22E-11	DNA polymerase	BrainSpLMD|5426	OMIM|174762;COSMIC||colorectal carcinoma, endometrioid carcinoma, stomach carcinoma, skin cancer, colorectal cancer susceptibility, FILS syndrome;HPO|5426|Abnormal facial shape, Autosomal recessive inheritance, Broad forehead, Congenital onset, Immunodeficiency, Malar flattening, Recurrent respiratory infections, Relative macrocephaly, Short stature, Telangiectases of the cheeks
RG-div1	LAMP2	0.363162678	1.22E-11	Adhesion molecule	BrainSpLMD|3920	OMIM|309060;HPO|3920|Arrhythmia, Cardiomegaly, Cardiorespiratory arrest, Cognitive impairment, Dilated cardiomyopathy, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Exercise intolerance, Exercise-induced muscle cramps, Gait disturbance, Generalized amyotrophy, Global developmental delay, Hypertrophic cardiomyopathy, Hypokinesia, Intellectual disability, Muscle flaccidity, Myocardial fibrosis, Myocardial necrosis, Pes cavus, Phenotypic variability, Proximal muscle weakness, Visual impairment, Wolff-Parkinson-White syndrome, X-linked dominant inheritance
RG-div1	LGALS3BP	0.572772342	1.29E-11	Extracellular matrix protein	BrainSpLMD|3959;Eurexp|euxassay_002816|axial muscle, choroid plexus, foregut-midgut junction, hindgut, integumental system, lateral recess, lobe, midgut, pancreas, rectum, renal/urinary system, stomach, thymus primordium	OMIM|600626
RG-div1	SPRED1	0.33328996	1.30E-11	Unclassified	BrainSpLMD|161742	OMIM|609291;HPO|161742|Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Axillary freckling, Cafe-au-lait spot, Downslanted palpebral fissures, Epicanthus, Generalized hypotonia, High, narrow palate, Hypertelorism, Low posterior hairline, Low-set, posteriorly rotated ears, Macrocephaly, Micrognathia, Multiple lipomas, Neurofibromas, Ptosis, Short neck, Specific learning disability, Triangular face
RG-div1	PARP4	0.70286367	1.31E-11	Enzyme: Ribosyltransferase	BrainSpLMD|143	OMIM|607519
RG-div1	DNALI1	0.584034387	1.31E-11	Structural protein	BrainSpLMD|7802;Eurexp|euxassay_011747|choroid invagination, choroid plexus, epithelium, olfactory	OMIM|602135
RG-div1	TTLL4	0.436659328	1.36E-11	Enzyme: Ligase	BrainSpLMD|9654	
RG-div1	WWC1	0.78503786	1.40E-11	Unclassified	BrainSpLMD|23286	OMIM|610533
RG-div1	MDC1	0.418400311	1.41E-11	DNA repair protein	BrainSpLMD|9656;Eurexp|euxassay_014183|olfactory lobe, ventricular layer	OMIM|607593
RG-div1	DKK3	0.537179812	1.42E-11	Ligand	BrainSpLMD|27122;Eurexp|euxassay_018106|aorta, axial skeleton, femur, humerus, mesenchyme, neural retina, rib, ventricular layer;BrainSpMouseDev|30269	OMIM|605416
RG-div1	IPO7	0.414281563	1.50E-11	Transport/cargo protein	BrainSpLMD|10527	OMIM|605586
RG-div1	NFYB	0.464743598	1.53E-11	Transcription factor	BrainSpLMD|4801;BrainSpMouseDev|17812	OMIM|189904
RG-div1	DONSON	0.521000339	1.53E-11	Unclassified	BrainSpLMD|29980	OMIM|611428;HPO|29980|Abnormality of the hand, Autosomal recessive inheritance, Forearm undergrowth, Intrauterine growth retardation, Microcephaly, Micromelia
RG-div1	ASNSD1	0.454777867	1.53E-11	Unclassified	BrainSpLMD|54529;Eurexp|euxassay_004908|cavities and their linings, limb, organ system, tail, vertebral axis muscle system	
RG-div1	DDX19A	0.417136307	1.55E-11	Unclassified	Eurexp|euxassay_006953|embryo	
RG-div1	XYLT1	0.612057057	1.66E-11	Enzyme: Transferase	BrainSpLMD|64131	OMIM|608124;HPO|64131|Abnormality of the eyelashes, Abnormality of the metaphysis, Accelerated skeletal maturation, Advanced ossification of carpal bones, Anteverted nares, Aplasia/Hypoplasia of the abdominal wall musculature, Autosomal recessive inheritance, Bell-shaped thorax, Blue sclerae, Camptodactyly of finger, Clinodactyly of the 5th finger, Coxa valga, Coxa vara, Depressed nasal bridge, Disproportionate short-limb short stature, Elbow dislocation, Epiphyseal dysplasia, Flat face, Genu recurvatum, Glaucoma, Hypotrichosis, Intellectual disability, Joint hyperflexibility, Joint laxity, Long philtrum, Low-set, posteriorly rotated ears, Metaphyseal widening, Patellar dislocation, Proptosis, Radioulnar synostosis, Relative macrocephaly, Round face, Scoliosis, Severe short stature, Short clavicles, Short long bone, Short metacarpal, Short neck, Short phalanx of finger, Short stature, Small hand, Ventricular septal defect
RG-div1	LOX	0.815920172	1.69E-11	Enzyme: Oxidase	BrainSpLMD|4015	OMIM|153455;HPO|4015|Abnormality of the iris, Aortic regurgitation, Ascending aortic dissection, Autosomal dominant inheritance, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Exertional dyspnea, Hypertension, Left ventricular failure, Paroxysmal dyspnea
RG-div1	POLH	0.887537536	1.69E-11	DNA polymerase	BrainSpLMD|5429	OMIM|603968;HPO|5429|Autosomal recessive inheritance, Basal cell carcinoma, Conjunctivitis, Cutaneous melanoma, Cutaneous photosensitivity, Dermal atrophy, Dry skin, Ectropion, Entropion, Freckles in sun-exposed areas, Hypopigmentation of the skin, Keratitis, Melanoma, Photophobia, Poikiloderma, Squamous cell carcinoma, Telangiectasia
RG-div1	DIAPH1	0.319120874	1.70E-11	Cytoskeletal associated protein	BrainSpLMD|1729	OMIM|602121;HPO|1729|Autosomal dominant inheritance, Autosomal recessive inheritance, Childhood onset, Cortical visual impairment, Hypoplasia of the corpus callosum, Low-frequency hearing loss, Microcephaly, Optic atrophy, Poor speech, Progressive hearing impairment, Seizures, Sensorineural hearing impairment, Short stature
RG-div1	CHD4	0.446180951	1.72E-11	DNA binding protein	BrainSpLMD|1108	OMIM|603277;COSMIC||uterine serous carcinoma;HPO|1108|Abnormality of the cardiac septa, Abnormality of the clavicle, Ambiguous genitalia, Anteriorly placed anus, Arnold-Chiari malformation, Astigmatism, Autosomal dominant inheritance, Coarctation of aorta, Coarse facial features, Cryptorchidism, Cupped ear, Epicanthus, Flat acetabular roof, Gait imbalance, Generalized hypotonia, Hearing impairment, Hypertelorism, Intellectual disability, Low-set ears, Macrocephaly, Micropenis, Phenotypic variability, Ptosis, Renal insufficiency, Short femoral neck, Short palpebral fissure, Short stature, Tapered finger, Tetralogy of Fallot, Trigonocephaly, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux, Wormian bones
RG-div1	PEX2	0.636319645	1.80E-11	Integral membrane protein	BrainSpLMD|5828;Eurexp|euxassay_006584|embryo	OMIM|170993;HPO|5828|Abnormal heart morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the helix, Abnormality of the liver, Abnormality of the palate, Anteverted nares, Areflexia, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, Brushfield spots, Camptodactyly, Cataract, Cerebellar atrophy, Chorioretinal abnormality, Cleft palate, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Cubitus valgus, Death in infancy, Decreased liver function, Depressed nasal bridge, Developmental regression, Difficulty running, Dolichocephaly, Dysarthria, Dysmetria, EEG abnormality, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Generalized neonatal hypotonia, Global developmental delay, Hepatic failure, Hepatomegaly, Hepatosplenomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypertelorism, Hyporeflexia, Hypospadias, Intellectual disability, Intrahepatic biliary dysgenesis, Intrauterine growth retardation, Jaundice, Large fontanelles, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrogyria, Malabsorption, Metatarsus adductus, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Muscular hypotonia, Neonatal hypotonia, Nyctalopia, Nystagmus, Oculomotor apraxia, Opacification of the corneal stroma, Optic atrophy, Optic nerve dysplasia, Palpebral edema, Pigmentary retinopathy, Polymicrogyria, Poor suck, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Renal cortical microcysts, Renal cyst, Respiratory insufficiency, Rod-cone dystrophy, Round face, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Single transverse palmar crease, Skeletal dysplasia, Slow progression, Slow saccadic eye movements, Spasticity, Splenomegaly, Stippled chondral calcification, Strabismus, Talipes equinovarus, Tremor, Underdeveloped supraorbital ridges, Unsteady gait, Upslanted palpebral fissure, Variable expressivity, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
RG-div1	SF3B3	0.431275218	1.81E-11	RNA binding protein	BrainSpLMD|23450	OMIM|605592
RG-div1	NAMPT	0.298577831	1.82E-11	Cytokine	BrainSpLMD|10135;Eurexp|euxassay_004817|axial muscle	OMIM|608764
RG-div1	LAMB2	1.072457642	1.89E-11	Extracellular matrix protein	BrainSpLMD|3913	OMIM|150325;HPO|3913|Areflexia, Autosomal recessive inheritance, Blindness, Diffuse mesangial sclerosis, Edema, Generalized hypotonia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Hypoproteinemia, Myopia, Neonatal onset, Nephrotic syndrome, Nystagmus, Posterior lenticonus, Proteinuria, Stage 5 chronic kidney disease, Strabismus
RG-div1	CCDC167	0.610632213	1.94E-11	Unclassified		
RG-div1	CDK5RAP3	0.336124731	2.00E-11	Cell cycle control protein	BrainSpLMD|80279	OMIM|608202
RG-div1	RPF1	0.668931535	2.06E-11	Unclassified	BrainSpLMD|80135;Eurexp|euxassay_007029|embryo	
RG-div1	ITGAE	0.449027766	2.21E-11	Cell surface receptor	BrainSpLMD|3682;Eurexp|euxassay_001422|incisor, nasal septum, nucleus pulposus, oesophagus	OMIM|604682
RG-div1	SLC36A4	0.423548973	2.24E-11	Membrane transport protein	BrainSpLMD|120103	OMIM|613760
RG-div1	RCOR3	0.509447925	2.35E-11	DNA binding protein	BrainSpLMD|55758	
RG-div1	CYB5R3	0.319983612	2.41E-11	Enzyme: Reductase	BrainSpLMD|1727	OMIM|613213;HPO|1727|Autosomal recessive inheritance, Cyanosis, Exertional dyspnea, Global developmental delay, Growth delay, Headache, Hypertonia, Intellectual disability, Methemoglobinemia, Microcephaly, Opisthotonus, Polycythemia, Strabismus
RG-div1	LIMA1	0.319127308	2.51E-11	Cytoskeletal protein	BrainSpLMD|51474	OMIM|608364
RG-div1	FANCA	0.845460025	2.52E-11	DNA binding protein	BrainSpLMD|2175	OMIM|607139;COSMIC||AML, leukaemia;HPO|2175|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of skin pigmentation, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anemia, Anemic pallor, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bruising susceptibility, Cafe-au-lait spot, Chromosomal breakage induced by crosslinking agents, Complete duplication of thumb phalanx, Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Duplicated collecting system, Ectopic kidney, Esophageal atresia, Global developmental delay, Hearing impairment, Horseshoe kidney, Hypergonadotropic hypogonadism, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukemia, Leukopenia, Microcephaly, Microphthalmia, Neutropenia, Pancytopenia, Prolonged G2 phase of cell cycle, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Reticulocytopenia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Small for gestational age, Strabismus, Thrombocytopenia, Tracheoesophageal fistula
RG-div1	BBS2	0.928451089	2.65E-11	Unclassified	BrainSpLMD|583	OMIM|606151;HPO|583|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, External genital hypoplasia, Glaucoma, Global developmental delay, Hyperinsulinemia, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Keratoconus, Multicystic kidney dysplasia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Pigmentary retinopathy, Postaxial hand polydactyly, Posterior polar cataract, Progressive night blindness, Retinal degeneration, Rod-cone dystrophy, Sensorineural hearing impairment, Short stature, Wide nasal bridge
RG-div1	ASAP2	0.345278501	2.86E-11	GTPase activating protein	BrainSpLMD|8853	OMIM|603817
RG-div1	ZC3HAV1	0.308163798	2.96E-11	-	BrainSpLMD|56829;Eurexp|euxassay_012472|lobe, thymus primordium	OMIM|607312
RG-div1	FZD7	0.794759687	2.99E-11	G protein coupled receptor	BrainSpLMD|8324;BrainSpMouseDev|14145	OMIM|603410
RG-div1	SENP2	0.627482702	3.00E-11	Ubiquitin proteasome system protein	BrainSpLMD|59343	OMIM|608261
RG-div1	VRK3	0.584706586	3.02E-11	Serine/threonine kinase	BrainSpLMD|51231	
RG-div1	DCXR	0.793431626	3.07E-11	Enzyme: Oxidoreductase	BrainSpLMD|51181	OMIM|608347
RG-div1	CDC23	0.317371508	3.11E-11	Ubiquitin proteasome system protein;Cell cycle control protein	BrainSpLMD|8697;Eurexp|euxassay_007491|embryo	OMIM|603462
RG-div1	BUD31	0.283392638	3.26E-11	Transcription regulatory protein	BrainSpLMD|8896	OMIM|603477
RG-div1	RPL39L	0.588460457	3.31E-11	Ribosomal subunit	BrainSpLMD|116832	OMIM|607547
RG-div1	ACTR3B	0.925980623	3.33E-11	Cytoskeletal associated protein	BrainSpLMD|57180;Eurexp|euxassay_004135|olfactory lobe, ventricular layer	
RG-div1	AC006115.3	0.591793419	3.34E-11			
RG-div1	FAM219A	0.50175594	3.61E-11	Unclassified	BrainSpLMD|203259	
RG-div1	CMTM3	1.371818384	3.70E-11	Chemokine	BrainSpLMD|123920	OMIM|607886
RG-div1	SUPT6H	0.670055825	3.76E-11	Transcription factor	BrainSpLMD|6830	OMIM|601333
RG-div1	CCDC25	0.75280671	3.76E-11	Unclassified	BrainSpLMD|55246	
RG-div1	COMMD10	0.60135088	3.77E-11	Unclassified	BrainSpLMD|51397	OMIM|616704
RG-div1	NBR1	0.281036179	3.86E-11	Unclassified	BrainSpLMD|4077	OMIM|166945
RG-div1	VEPH1	1.015808974	3.88E-11	Unclassified	BrainSpLMD|79674	OMIM|609594
RG-div1	KIAA1161	0.490659117	3.94E-11			
RG-div1	YEATS4	0.435747941	3.98E-11	Transcription factor	BrainSpLMD|8089	OMIM|602116
RG-div1	DTD2	0.592929943	4.01E-11	Enzyme: Hydrolase	BrainSpLMD|112487	
RG-div1	PTGR1	0.934871204	4.06E-11	Enzyme: Dehydrogenase	BrainSpLMD|22949	OMIM|601274
RG-div1	SPG20	0.686448558	4.13E-11			
RG-div1	WSCD1	0.940363316	4.22E-11	Integral membrane protein	BrainSpLMD|23302;Eurexp|euxassay_007047|anterior, brain, calyces, cardiac muscle, ductus deferens, incisor, inner ear, mesenchyme, molar, olfactory, optic II, pelvis, posterior, renal/urinary system, retina, spinal cord, thymus primordium, ureter, vagus X, vertebral axis muscle system, vomeronasal organ	
RG-div1	RP11.444D3.1	0.321462293	4.23E-11			
RG-div1	EMX2OS	1.207030835	4.24E-11			OMIM|607637
RG-div1	TADA2A	0.490180828	4.47E-11	Transcription regulatory protein	BrainSpLMD|6871	OMIM|602276
RG-div1	CGRRF1	0.344837676	4.49E-11	Cell cycle control protein	BrainSpLMD|10668	OMIM|606138
RG-div1	MTAP	0.341662285	4.53E-11	Enzyme: Phosphorylase	BrainSpLMD|4507;Eurexp|euxassay_003372|axial muscle, cranium, incisor, mantle layer, marginal layer, orbito-sphenoid, submandibular gland primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|156540
RG-div1	UHRF2	0.276522756	4.56E-11	Ubiquitin proteasome system protein	BrainSpLMD|115426	OMIM|615211
RG-div1	STRN	0.492099559	4.79E-11	Unclassified	BrainSpLMD|6801	OMIM|614765;COSMIC||anaplastic thyroid, papillary thyroid, lung
RG-div1	NUFIP2	0.305738532	4.86E-11	RNA binding protein	BrainSpLMD|57532	OMIM|609356
RG-div1	ZHX3	0.519462276	4.86E-11	Transcription regulatory protein	BrainSpLMD|23051;Eurexp|euxassay_019571|cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, midgut, thoracic, trigeminal V, vagus X, vibrissa;BrainSpMouseDev|107734	OMIM|609598
RG-div1	CDC73	0.304976254	4.90E-11	Unclassified	BrainSpLMD|79577	OMIM|607393;COSMIC||parathyroid adenoma, parathyroid adenoma, multiple ossifying jaw fibroma;HPO|79577|Autosomal dominant inheritance, Chondrocalcinosis, Dysphagia, Elevated circulating parathyroid hormone level, Fatigue, Fibroma, Generalized osteoporosis, Hoarse voice, Hypercalcemia, Hypercalciuria, Hyperparathyroidism, Hyperphosphaturia, Hypophosphatemia, Infantile hypercalcemia, Nephrocalcinosis, Nephrolithiasis, Osteopenia, Osteoporosis, Parathyroid adenoma, Parathyroid carcinoma, Polydipsia, Primary hyperparathyroidism, Shortened QT interval, Somatic mutation, Uterine leiomyoma, Weight loss
RG-div1	HMGN2P4	0.360967341	4.91E-11			
RG-div1	CPSF2	0.534186349	4.92E-11	RNA binding protein	BrainSpLMD|53981	OMIM|606028
RG-div1	ASXL1	0.490104617	4.93E-11	Transcription regulatory protein	BrainSpLMD|171023	OMIM|612990;COSMIC||MDS, CMML, Bohring-Opitz syndrome;HPO|171023|Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Abnormality of the optic nerve, Abnormality of the pancreas, Accessory oral frenulum, Agenesis of corpus callosum, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Biparietal narrowing, Broad alveolar ridges, Broad palm, Camptodactyly, Camptodactyly of finger, Cerebral cortical atrophy, Cleft palate, Cleft upper lip, Convex nasal ridge, Dandy-Walker malformation, Death in infancy, Deep palmar crease, Deep plantar creases, Delayed peripheral myelination, Dislocated radial head, Elbow dislocation, Facial hemangioma, Failure to thrive, Feeding difficulties, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Heterotopia, Hirsutism, Hyperechogenic pancreas, Hypertelorism, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, profound, Intellectual disability, severe, Intestinal malrotation, Intrauterine growth retardation, Limitation of joint mobility, Long face, Low anterior hairline, Low-set ears, Mesomelic/rhizomelic limb shortening, Microcephaly, Micrognathia, Myelodysplasia, Myopia, Narrow chest, Narrow forehead, Narrow palate, Nevus flammeus, Nevus flammeus of the forehead, Overlapping toe, Platyspondyly, Polyhydramnios, Posteriorly rotated ears, Prominent forehead, Prominent metopic ridge, Proptosis, Retinopathy, Retrognathia, Sacral dimple, Seizures, Short thorax, Short toe, Somatic mutation, Strabismus, Supernumerary nipple, Syndactyly, Synophrys, Tapered finger, Thick hair, Trigonocephaly, Ulnar deviation of finger, Ulnar deviation of the wrist, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Vesicoureteral reflux, Wide intermamillary distance, Wide nasal bridge
RG-div1	ATF4	0.337691279	4.97E-11	Transcription factor	BrainSpLMD|468;BrainSpMouseDev|11698	OMIM|604064
RG-div1	USP28	0.787026225	5.16E-11	Ubiquitin proteasome system protein	BrainSpLMD|57646;Eurexp|euxassay_000568|oesophagus, tongue, vertebral axis muscle system	OMIM|610748
RG-div1	LAPTM4B	0.284754931	5.40E-11	Unclassified	BrainSpLMD|55353;Eurexp|euxassay_001940|basal plate, choroid plexus, dorsal root ganglion, incisor, lateral recess, mantle layer, submandibular gland primordium, trigeminal V, ventral grey horn, vestibulocochlear VIII;BrainSpMouseDev|76980	OMIM|613296
RG-div1	GSKIP	0.698618779	5.41E-11	Unclassified	BrainSpLMD|51527	OMIM|616605
RG-div1	SNHG16	0.426118636	5.47E-11			
RG-div1	ENTPD1.AS1	0.606000305	5.63E-11			
RG-div1	NUP85	0.343412193	5.69E-11	Anchor protein		OMIM|170285
RG-div1	HADH	0.662377867	5.73E-11	Enzyme: Dehydrogenase	BrainSpLMD|3033;Eurexp|euxassay_018543|adrenal gland, liver, lung, midgut, orbito-sphenoid, stomach, sublingual gland primordium, testis, thymus primordium, thyroid, trachea, turbinate, ventricular layer	OMIM|601609;HPO|3033|Abnormality of acetylcarnitine metabolism, Autosomal recessive inheritance, Confusion, Decreased activity of 3-hydroxyacyl-CoA dehydrogenase, Diarrhea, Dicarboxylic aciduria, Dilated cardiomyopathy, Elevated hepatic transaminases, Fasting hyperinsulinemia, Feeding difficulties in infancy, Fulminant hepatic failure, Growth delay, Hepatic necrosis, Hepatic steatosis, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, Hypoglycemic coma, Hypoglycemic encephalopathy, Hypoglycemic seizures, Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level, Intellectual disability, Intrauterine growth retardation, Lethargy, Muscular hypotonia, Myoglobinuria, Neonatal hypoglycemia, Neonatal hypotonia, Phenotypic variability, Proportionate short stature, Vomiting
RG-div1	CHORDC1	0.314735918	5.94E-11	Unclassified	BrainSpLMD|26973;Eurexp|euxassay_005070|brain, olfactory, trigeminal V, vomeronasal organ	OMIM|604353
RG-div1	HNRNPCP2	0.278193333	6.01E-11			
RG-div1	TFRC	0.262939894	6.16E-11	Membrane transport protein	BrainSpLMD|7037;Eurexp|euxassay_005557|left, left lung, meninges, midgut, right, right lung, stomach, submandibular gland primordium	OMIM|190010;COSMIC||NHL;HPO|7037|Autosomal recessive inheritance, Decreased antibody level in blood, Neutropenia
RG-div1	CDKN1B	0.378396212	6.19E-11	Cell cycle control protein	BrainSpLMD|1027;Eurexp|euxassay_011991|spleen primordium	SFARI||Autism, No category;OMIM|600778;COSMIC||breast, small intestine neuroendocrine tumours, pituitary, parathyroid;HPO|1027|Adrenocortical adenoma, Angiofibromas, Autosomal dominant inheritance, Carcinoid tumor, Diarrhea, Elevated circulating parathyroid hormone level, Episodic abdominal pain, Esophagitis, Fasting hyperinsulinemia, Growth hormone excess, Hypercalcemia, Hyperinsulinemic hypoglycemia, Hyperparathyroidism, Insulinoma, Parathyroid adenoma, Parathyroid hyperplasia, Peptic ulcer, Pituitary adenoma, Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary prolactin cell adenoma, Pulmonary carcinoid tumor, Renal angiomyolipoma, Subcutaneous lipoma, Thyroid adenoma, Zollinger-Ellison syndrome
RG-div1	MAGOH	0.465489158	6.64E-11	Cell cycle control protein	BrainSpLMD|4116	OMIM|602603
RG-div1	CIDECP	1.102357358	6.86E-11		BrainSpLMD|152302	
RG-div1	ZW10	0.97216262	7.12E-11	Cell cycle control protein	BrainSpLMD|9183	OMIM|603954
RG-div1	BAG3	0.474651655	7.36E-11	Adapter molecule	BrainSpLMD|9531	OMIM|603883;HPO|9531|Autosomal dominant inheritance, Axonal loss, Congestive heart failure, Demyelinating peripheral neuropathy, Diaphragmatic paralysis, Dilated cardiomyopathy, Distal sensory impairment, EMG: myopathic abnormalities, Easy fatigability, Elevated serum creatine phosphokinase, Facial palsy, Generalized amyotrophy, Hypertrophic cardiomyopathy, Hyporeflexia, Knee flexion contracture, Muscular dystrophy, Myofibrillar myopathy, Nasal speech, Pes cavus, Rapidly progressive, Respiratory insufficiency, Scoliosis, Spinal rigidity
RG-div1	PRRC2A	0.250773102	7.52E-11	Unclassified	BrainSpLMD|7916	OMIM|142580
RG-div1	RPN2	0.440258468	8.17E-11	Enzyme: Glycosyltransferase	BrainSpLMD|6185;Eurexp|euxassay_018263|embryo	OMIM|180490
RG-div1	GALNT7	0.748243123	8.36E-11	Enzyme: Transferase	BrainSpLMD|51809;Eurexp|euxassay_005715|adrenal gland, choroid invagination, choroid plexus, metanephros, midgut, rectum, roof plate, stomach, submandibular gland primordium	OMIM|605005
RG-div1	ADIPOR2	0.386669052	8.53E-11	Integral membrane protein	BrainSpLMD|79602;Eurexp|euxassay_001439|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X	OMIM|607946
RG-div1	LPHN2	0.312357087	8.90E-11			
RG-div1	HSD17B12	0.390442445	9.45E-11	Enzyme: Dehydrogenase	BrainSpLMD|51144	OMIM|609574
RG-div1	SLK	0.518862334	9.47E-11	Serine/threonine kinase	BrainSpLMD|9748;Eurexp|euxassay_012162|facial VII, midgut, molar, oesophagus, oral epithelium, rectum, stomach, thymus primordium, thyroid	OMIM|616563
RG-div1	USP42	0.314013906	9.50E-11	Ubiquitin proteasome system protein		
RG-div1	ZNF587	0.457312181	9.70E-11	Transcription regulatory protein	BrainSpLMD|84914	
RG-div1	ZNF718	0.542067551	9.84E-11	Unclassified	BrainSpLMD|255403	
RG-div1	RFX5	0.868306424	1.01E-10	Transcription factor	BrainSpLMD|5993;Eurexp|euxassay_016784|basal plate, cochlear component, dorsal root ganglion, facial VII, inferior, superior, trigeminal V, vagus X, ventral grey horn, vestibular component;BrainSpMouseDev|33264	OMIM|601863;HPO|5993|Agammaglobulinemia, Autosomal dominant inheritance, Autosomal recessive inheritance, Biliary tract abnormality, Chronic lymphocytic meningitis, Chronic mucocutaneous candidiasis, Colitis, Cutaneous anergy, Encephalitis, Failure to thrive, Malabsorption, Neutropenia, Panhypogammaglobulinemia, Protracted diarrhea, Recurrent bacterial infections, Recurrent fungal infections, Recurrent lower respiratory tract infections, Recurrent protozoan infections, Recurrent upper respiratory tract infections, Recurrent urinary tract infections, Recurrent viral infections, Villous atrophy, Viral hepatitis
RG-div1	RUVBL2	0.478350246	1.03E-10	Transcription regulatory protein	BrainSpLMD|10856;Eurexp|euxassay_002276|axial muscle, orbito-sphenoid, skeletal muscle, submandibular gland primordium, turbinate	OMIM|604788
RG-div1	UFSP2	0.532361938	1.07E-10	Protease	BrainSpLMD|55325;Eurexp|euxassay_002185|orbito-sphenoid, turbinate	OMIM|611482;HPO|55325|Abnormal ossification involving the femoral head and neck, Abnormality of bone mineral density, Abnormality of the epiphysis of the femoral head, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Broad femoral neck, Childhood onset, Flat capital femoral epiphysis, Hip dysplasia, Irregular capital femoral epiphysis, Osteoarthritis, Shallow acetabular fossae, Wide proximal femoral metaphysis
RG-div1	CPNE2	1.044811291	1.10E-10	Transport/cargo protein	BrainSpLMD|221184;Eurexp|euxassay_001619|choroid plexus, marginal layer, ventricular layer;BrainSpMouseDev|87854	OMIM|604206
RG-div1	ARAP2	1.065320005	1.12E-10	GTPase activating protein	BrainSpLMD|116984	OMIM|606645
RG-div1	RTCB	0.390958822	1.17E-10	Unclassified	BrainSpLMD|51493	OMIM|613901
RG-div1	EXT1	0.536379052	1.17E-10	Enzyme: Glycosyltransferase	BrainSpLMD|2131;Eurexp|euxassay_003308|axial skeleton, extrinsic ocular muscle, incisor, lung, marginal layer, mesenchyme, midgut, molar, pelvic girdle, penis, skeletal muscle, skin, sternum, stomach, submandibular gland primordium, trachea, turbinate bones, urethra, valve, ventral grey horn, ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|608177;COSMIC||exostoses, osteosarcoma;HPO|2131|Abnormality of femur morphology, Abnormality of the dentition, Abnormality of the foot, Abnormality of the humerus, Abnormality of the metaphysis, Abnormality of tibia morphology, Anteverted nares, Aplasia/Hypoplasia of the mandible, Aseptic necrosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone pain, Bulbous nose, Cervical myelopathy, Chondrosarcoma, Cone-shaped epiphyses of the phalanges of the hand, Coxa vara, Cranial nerve paralysis, Deep philtrum, Delayed skeletal maturation, Failure to thrive, Genu valgum, Hypoplasia of the ulna, Intellectual disability, Joint dislocation, Joint hyperflexibility, Juvenile onset, Long philtrum, Low-set, posteriorly rotated ears, Madelung deformity, Madelung-like forearm deformities, Micromelia, Multiple exostoses, Multiple long-bone exostoses, Muscle weakness, Pelvic bone exostoses, Peripheral nerve compression, Protruding ear, Protuberances at ends of long bones, Radial bowing, Redundant skin, Rib exostoses, Scapular exostoses, Short metacarpal, Short stature, Sparse scalp hair, Thick eyebrow, Thin upper lip vermilion
RG-div1	TMEM163	0.544644109	1.19E-10	Unclassified	BrainSpLMD|81615	
RG-div1	POT1.AS1	0.430278725	1.21E-10			
RG-div1	LZTFL1	0.853343386	1.23E-10	Unclassified	BrainSpLMD|54585	OMIM|606568;HPO|54585|Abnormal electroretinogram, Autosomal recessive inheritance, Brachydactyly, Cognitive impairment, Cone/cone-rod dystrophy, External genital hypoplasia, Global developmental delay, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Mesoaxial polydactyly, Multicystic kidney dysplasia, Nystagmus, Obesity, Pigmentary retinopathy, Postaxial hand polydactyly, Renal cyst, Retinal degeneration, Short stature, Stage 5 chronic kidney disease
RG-div1	APPL2	0.32036384	1.23E-10	Unclassified	BrainSpLMD|55198;Eurexp|euxassay_000187|corpus striatum, dental papilla, epithelium, footplate, handplate, medulla, mesenchyme, parenchyma, stomach, thalamus, ventricular layer	OMIM|606231
RG-div1	KDM3A	0.337070821	1.26E-10	Unclassified	BrainSpLMD|55818	OMIM|611512
RG-div1	IKBIP	0.504804433	1.28E-10	Unclassified	BrainSpLMD|121457;Eurexp|euxassay_008119|mandible, maxilla, rib	OMIM|609861
RG-div1	FAM92A1	0.366876691	1.30E-10			
RG-div1	TEX9	0.378997974	1.30E-10	Unclassified	BrainSpLMD|374618	
RG-div1	TIMP2	0.56886832	1.31E-10	Extracellular matrix protein	BrainSpLMD|7077	OMIM|188825
RG-div1	MAGOHB	0.5797852	1.34E-10	Unclassified	BrainSpLMD|55110	
RG-div1	RNU6.37P	0.640870793	1.38E-10			
RG-div1	ZNF548	0.329178486	1.38E-10	Unclassified	BrainSpLMD|147694	SFARI||Autism, 4 - Minimal evidence
RG-div1	TOX	0.441343978	1.41E-10	DNA binding protein	BrainSpLMD|9760;Eurexp|euxassay_006612|axial skeleton, cervical, cervico-thoracic, clavicle, cricoid, diencephalon, exoccipital bone, femur, hindbrain, inner ear, lip, lung, mandible, mantle layer, mesenchyme, metanephros, metatarsus, midbrain, nasal septum, neural retina, orbito-sphenoid, pelvic girdle, penis, phalanx, rib, scapula, stomach, telencephalon, thoracic, thymus primordium, thyroid, turbinate, vault of skull, vibrissa, vomeronasal organ;BrainSpMouseDev|89963	OMIM|606863
RG-div1	ACTN4	0.626533741	1.44E-10	Cytoskeletal protein	BrainSpLMD|81	SFARI||Autism, No category;OMIM|604638;HPO|81|Anemia, Autosomal dominant inheritance, Edema, Focal segmental glomerulosclerosis, Hyperlipidemia, Hypertension, Hypoalbuminemia, Incomplete penetrance, Proteinuria, Slow progression, Variable expressivity
RG-div1	CALCOCO2	0.435703552	1.45E-10	Unclassified	BrainSpLMD|10241	OMIM|604587
RG-div1	CDK4	0.863045259	1.51E-10	Cell cycle control protein	BrainSpLMD|1019;Eurexp|euxassay_018619|ventricular layer	OMIM|123829;COSMIC||melanoma;HPO|1019|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus, Subcutaneous nodule
RG-div1	TBL1X	0.415349771	1.55E-10	Cell cycle control protein	BrainSpLMD|6907	SFARI||Autism, 4 - Minimal evidence;OMIM|300196
RG-div1	ATG4C	0.72441879	1.59E-10	Cysteine protease	BrainSpLMD|84938	OMIM|611339
RG-div1	AIG1	0.806867424	1.68E-10	Integral membrane protein	BrainSpLMD|51390	OMIM|608514
RG-div1	NIT1	0.535132034	1.72E-10	Unclassified	BrainSpLMD|4817	OMIM|604618
RG-div1	PAPPA2	0.790859916	1.77E-10	Metallo protease	BrainSpLMD|60676;Eurexp|euxassay_019547|adrenal gland, clavicle, dorsal root ganglion, glossopharyngeal IX, incisor, mandible, mantle layer, molar, trigeminal V;BrainSpMouseDev|23603	
RG-div1	TNFAIP1	0.412637207	1.78E-10	Unclassified	BrainSpLMD|7126;Eurexp|euxassay_011960|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones, valve, vault of skull	OMIM|191161
RG-div1	ZNF680	0.771039558	1.85E-10	DNA binding protein	BrainSpLMD|340252	
RG-div1	NXF1	0.292361104	1.85E-10	RNA binding protein	BrainSpLMD|10482	OMIM|602647
RG-div1	GRHPR	0.361984961	1.91E-10	Enzyme: Reductase	BrainSpLMD|9380;Eurexp|euxassay_000601|adrenal gland	OMIM|604296;HPO|9380|Aminoaciduria, Autosomal recessive inheritance, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Variable expressivity
RG-div1	MAP3K7	0.323502769	1.94E-10	Serine/threonine kinase	BrainSpLMD|6885;BrainSpMouseDev|26157	OMIM|602614;HPO|6885|Abnormal form of the vertebral bodies, Abnormality of dental morphology, Abnormality of the dentition, Abnormality of the metaphysis, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Anteverted nares, Autosomal dominant inheritance, Bicuspid aortic valve, Bowing of the long bones, Brachydactyly, Broad nasal tip, Camptodactyly, Camptodactyly of finger, Carpal synostosis, Conductive hearing impairment, Cone-shaped epiphysis, Congenital hip dislocation, Congenital sensorineural hearing impairment, Craniofacial hyperostosis, Decreased testicular size, Deep philtrum, Delayed skeletal maturation, Depressed nasal bridge, Dislocated radial head, Downslanted palpebral fissures, Elbow dislocation, Failure to thrive, Freckling, Full cheeks, Fused cervical vertebrae, Gastroesophageal reflux, High palate, Hip contracture, Hypertelorism, Hypoplasia of the musculature, Irregular metacarpals, Joint laxity, Joint stiffness, Long fingers, Long metacarpals, Long philtrum, Micrognathia, Mitral regurgitation, Patent ductus arteriosus, Patent foramen ovale, Pointed chin, Posterior vertebral hypoplasia, Posteriorly rotated ears, Prominent supraorbital ridges, Pseudoepiphyses, Pulmonic stenosis, Recurrent otitis media, Reduced number of teeth, Rib fusion, Scoliosis, Sensorineural hearing impairment, Short distal phalanx of hallux, Short distal phalanx of the thumb, Short foot, Short metacarpal, Short metatarsal, Short philtrum, Short stature, Strabismus, Subglottic stenosis, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Telecanthus, Thick eyebrow, Tracheal stenosis, Ulnar deviation of finger, Ulnar deviation of the hand, Upslanted palpebral fissure, Vesicoureteral reflux, Wide nasal bridge
RG-div1	PROSC	0.587178192	1.97E-10			
RG-div1	SMG8	0.739230921	1.99E-10	Unclassified	BrainSpLMD|55181	OMIM|613175
RG-div1	PHF10	0.437640479	2.00E-10	Transcription regulatory protein	BrainSpLMD|55274	OMIM|613069
RG-div1	PPIE	0.421803402	2.03E-10	Enzyme: Isomerase;RNA binding protein	BrainSpLMD|10450	OMIM|602435
RG-div1	MTRR	0.569248605	2.07E-10	Enzyme: Oxidoreductase	BrainSpLMD|4552	OMIM|602568;HPO|4552|Anemia, Autosomal recessive inheritance, Cerebral atrophy, Cerebral cortical atrophy, Decreased methionine synthase activity, Decreased methylcobalamin, Decreased nerve conduction velocity, Failure to thrive, Gait disturbance, Generalized hypotonia, Global developmental delay, Homocystinuria, Hyperhomocystinemia, Hypomethioninemia, Infantile onset, Intellectual disability, progressive, Lethargy, Megaloblastic anemia, Muscular hypotonia, Nystagmus, Respiratory insufficiency, Seizures
RG-div1	NOG	0.845815302	2.07E-10	Secreted polypeptide	BrainSpLMD|9241;Eurexp|euxassay_009618|axial skeleton, mandible, mantle layer, nasal septum, otic capsule, phalanx, rib, sternum, thyroid, turbinate bones, ventral grey horn;BrainSpMouseDev|17888	OMIM|602991;HPO|9241|2-3 toe syndactyly, Abnormal vertebral morphology, Abnormality of the ankles, Absent distal interphalangeal creases, Absent distal phalanges, Absent fingernail, Absent phalangeal crease, Anonychia, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the nails, Aplastic/hypoplastic toenail, Autosomal dominant inheritance, Brachydactyly, Broad hallux, Broad thumb, Camptodactyly of finger, Carpal synostosis, Clinodactyly, Conductive hearing impairment, Congenital stapes ankylosis, Cubitus valgus, Cutaneous finger syndactyly, Cutaneous syndactyly of toes, Dislocated radial head, Elbow ankylosis, Elbow dislocation, Enlargement of the costochondral junction, Finger syndactyly, Fusion of midphalangeal joints, Hypermetropia, Hypoplastic nasal septum, Hypoplastic spinal processes, Long nose, Low hanging columella, Lower limb undergrowth, Metacarpophalangeal synostosis, Narrow face, Pectus excavatum, Progressive conductive hearing impairment, Progressive fusion 2nd-5th pip joints, Proximal placement of thumb, Proximal symphalangism, Proximal symphalangism of hands, Proximal/middle symphalangism of 5th finger, Radial deviation of finger, Sensorineural hearing impairment, Short 1st metacarpal, Short 5th metacarpal, Short distal phalanx of finger, Short distal phalanx of toe, Short finger, Short foot, Short hallux, Short humerus, Short lower limbs, Short philtrum, Short stature, Short sternum, Single transverse palmar crease, Spinal canal stenosis, Stapes ankylosis, Strabismus, Symphalangism affecting the phalanges of the hand, Synostosis of carpal bones, Tarsal synostosis, Thick upper lip vermilion, Thin upper lip vermilion, Toe syndactyly, Type B brachydactyly, Underdeveloped nasal alae, Waddling gait
RG-div1	TCTN3	0.628717087	2.10E-10	Integral membrane protein	BrainSpLMD|26123;Eurexp|euxassay_011590|choroid invagination, choroid plexus, olfactory, roof plate	OMIM|613847;HPO|26123|Abnormality of eye movement, Abnormality of oral frenula, Abnormality of the gingiva, Abnormality of the tongue, Absent testis, Accessory oral frenulum, Aplasia/Hypoplasia of the tibia, Autosomal recessive inheritance, Bifid uvula, Brachydactyly, Camptodactyly, Camptodactyly of finger, Cerebral atrophy, Cerebral cortical hemiatrophy, Choanal atresia, Cleft palate, Clinodactyly, Conductive hearing impairment, Decreased testicular size, Depressed nasal ridge, Epicanthus, Failure to thrive, Feeding difficulties, Finger syndactyly, Foot polydactyly, Genu varum, Global developmental delay, Hamartoma, Hamartoma of tongue, Hand polydactyly, High palate, High, narrow palate, Horseshoe kidney, Hypertelorism, Intellectual disability, Intrauterine growth retardation, Joint dislocation, Joint laxity, Kyphoscoliosis, Laryngomalacia, Lobulated tongue, Low-set ears, Median cleft lip, Microcephaly, Micrognathia, Micromelia, Microtia, third degree, Molar tooth sign on MRI, Monorchism, Oligohydramnios, Oral synechia, Pectus excavatum, Phenotypic variability, Polydactyly, Porencephalic cyst, Postaxial hand polydactyly, Posteriorly rotated ears, Preaxial hand polydactyly, Proptosis, Recurrent respiratory infections, Retrognathia, Severe short stature, Short finger, Short nose, Short stature, Short tibia, Specific learning disability, Split hand, Subcortical cerebral atrophy, Submucous cleft hard palate, Toe syndactyly, Tongue nodules, Ventricular septal defect, Wide nose
RG-div1	RNF141	0.368058518	2.15E-10	Transcription factor	BrainSpLMD|50862	OMIM|616641
RG-div1	MCM6	0.977429869	2.15E-10	Cell cycle control protein	BrainSpLMD|4175	OMIM|601806;HPO|4175|Abdominal pain, Autosomal dominant inheritance, Autosomal recessive inheritance, Decreased small intestinal mucosa lactase activity, Diarrhea, Lactose intolerance
RG-div1	HSPA13	0.426521949	2.30E-10	Chaperone	BrainSpLMD|6782	OMIM|601100
RG-div1	SLC35A4	0.718264229	2.46E-10	Membrane transport protein	BrainSpLMD|113829;Eurexp|euxassay_004834|axial muscle, cranium, ventricular layer	
RG-div1	QTRTD1	0.398247815	2.49E-10			
RG-div1	PLAGL2	0.868938524	2.50E-10	Transcription regulatory protein	BrainSpLMD|5326	OMIM|604866
RG-div1	ETV1	0.303864654	2.51E-10	Transcription factor	BrainSpLMD|2115;BrainSpMouseDev|13786	OMIM|600541;COSMIC||Ewing sarcoma, prostate
RG-div1	PIM1	1.140950429	2.52E-10	Serine/threonine kinase	BrainSpLMD|5292	OMIM|164960;COSMIC||NHL
RG-div1	PLP2	0.836858975	2.52E-10	Ion channel	BrainSpLMD|5355;Eurexp|euxassay_004091|Meckel's cartilage, cranium, fundus, stomach	OMIM|300112
RG-div1	PTPN14	0.694185693	2.54E-10	Tyrosine phosphatase	BrainSpLMD|5784;Eurexp|euxassay_009623|axial skeleton, metanephros, nasal septum, oesophagus, submandibular gland primordium, vibrissa	OMIM|603155;HPO|5784|Autosomal recessive inheritance, Choanal atresia, High palate, Lymphedema, Pericardial effusion
RG-div1	CDK11B	0.337526344	2.77E-10	Cell cycle control protein		OMIM|176873
RG-div1	BRD7	0.325641098	2.82E-10	Transcription factor		
RG-div1	FAM161A	0.304551105	2.83E-10	Unclassified	Eurexp|euxassay_013156|choroid invagination, choroid plexus, roof plate	OMIM|613596;HPO|84140|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
RG-div1	HSPA1B	0.680651801	2.96E-10	Chaperone	BrainSpLMD|3304	OMIM|603012
RG-div1	STK17A	0.429378577	3.03E-10	Serine/threonine kinase	BrainSpLMD|9263	OMIM|604726
RG-div1	RGS3	0.689430067	3.09E-10	GTPase activating protein	BrainSpLMD|5998	OMIM|602189
RG-div1	VKORC1	0.605346303	3.10E-10	Enzyme: Reductase;Coagulation factor	BrainSpLMD|79001;Eurexp|euxassay_000753|Meckel's cartilage, chondrocranium, incisor, molar	OMIM|608547;HPO|79001|Abnormal bleeding, Abnormality of blood and blood-forming tissues, Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Autosomal recessive inheritance, Reduced factor IX activity, Reduced factor VII activity, Reduced factor X activity, Reduced prothrombin activity
RG-div1	SART3	0.362397237	3.13E-10	RNA binding protein	BrainSpLMD|9733	OMIM|611684
RG-div1	LRRC57	0.36769	3.30E-10	Unclassified	BrainSpLMD|255252	
RG-div1	TMEM168	0.37685162	3.53E-10	Unclassified	BrainSpLMD|64418;Eurexp|euxassay_008135|ventricle	
RG-div1	PMPCB	0.266670273	3.70E-10	Protease	BrainSpLMD|9512	OMIM|603131
RG-div1	STOML2	0.456588211	3.75E-10	Membrane transport protein	BrainSpLMD|30968	OMIM|608292
RG-div1	C1orf226	0.6689198	3.82E-10	Unclassified		
RG-div1	ATL3	0.351650199	3.96E-10	Unclassified	BrainSpLMD|25923;Eurexp|euxassay_001705|orbito-sphenoid, ventricular layer	OMIM|609369;HPO|25923|Autosomal dominant inheritance, Hallux valgus, Hyperkeratosis, Hyporeflexia of lower limbs, Osteolytic defects of the phalanges of the hand, Osteomyelitis, Sensory axonal neuropathy
RG-div1	SCMH1	0.703040274	4.05E-10	Transcription regulatory protein;Transcription factor	BrainSpLMD|22955	OMIM|616396
RG-div1	TMEM60	0.730374926	4.06E-10	Integral membrane protein	BrainSpLMD|85025	
RG-div1	EFNB1	0.564902698	4.14E-10	Ligand	BrainSpLMD|1947;Eurexp|euxassay_018017|bladder, cortex, dorsal root ganglion, ductus deferens, incisor, internal capsule, lung, mesenchyme, metanephros, midgut, molar, palatal shelf, phalanx, stomach, sulcus limitans, ventricular layer, vibrissa;BrainSpMouseDev|13419	OMIM|300035;HPO|1947|Abnormality of the dentition, Abnormality of the rib cage, Axillary pterygia, Bifid nasal tip, Brachycephaly, Brachydactyly, Broad hallux, Broad hallux phalanx, Camptodactyly of finger, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Congenital pseudoarthrosis of the clavicle, Coronal craniosynostosis, Craniosynostosis, Cryptorchidism, Depressed nasal ridge, Down-sloping shoulders, Downslanted palpebral fissures, Exotropia, Facial asymmetry, Finger syndactyly, Fragile nails, Frontal bossing, Generalized hypotonia, Global developmental delay, Hand polydactyly, Hemihypotrophy of lower limb, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplastic nasal tip, Hypospadias, Intellectual disability, Joint hyperflexibility, Joint laxity, Low posterior hairline, Microcephaly, Midline defect of the nose, Muscular hypotonia, Nystagmus, Oral cleft, Pectus excavatum, Plagiocephaly, Ridged fingernail, Ridged nail, Sandal gap, Scoliosis, Sensorineural hearing impairment, Shawl scrotum, Short neck, Short stature, Split nail, Sprengel anomaly, Telecanthus, Thickened nuchal skin fold, Toe syndactyly, Umbilical hernia, Unilateral breast hypoplasia, Wide nasal bridge, Widow's peak, Woolly hair, X-linked dominant inheritance
RG-div1	GPATCH11	0.725716845	4.17E-10	RNA binding protein	BrainSpLMD|253635	
RG-div1	NELL1	0.291569701	4.23E-10	Enzyme: Oxidoreductase	BrainSpLMD|4745	SFARI||Autism, No category;OMIM|602319
RG-div1	SPATA6	1.251361419	4.32E-10	Unclassified	BrainSpLMD|54558	OMIM|613947
RG-div1	ARHGEF6	1.146161133	4.40E-10	Guanine nucleotide exchange factor	BrainSpLMD|9459	OMIM|300267;HPO|9459|Intellectual disability, X-linked recessive inheritance
RG-div1	GTPBP1	0.498037221	4.42E-10	GTPase	BrainSpLMD|9567	OMIM|602245
RG-div1	CKLF	0.385835305	4.59E-10	Chemokine	BrainSpLMD|51192	OMIM|616074
RG-div1	SGK223	0.464508002	4.63E-10			
RG-div1	PTBP1	0.625020878	4.69E-10	Ribonucleoprotein	BrainSpLMD|5725	OMIM|600693
RG-div1	MED31	0.47179517	4.70E-10	Transcription regulatory protein	BrainSpLMD|51003	
RG-div1	SF3A1	0.61586859	5.03E-10	RNA binding protein	BrainSpLMD|10291	OMIM|605595
RG-div1	MCM9	0.457972367	5.05E-10	DNA binding protein	BrainSpLMD|254394	OMIM|610098;HPO|254394|Autosomal recessive inheritance, Decreased body weight, Delayed skeletal maturation, Primary amenorrhea, Short stature
RG-div1	CASP6	0.817676331	5.05E-10	Cysteine protease	BrainSpLMD|839;Eurexp|euxassay_004793|adenohypophysis, bladder, heart, incisor, inner ear, intraventricular portion, lung, mantle layer, metanephros, midgut, naris, olfactory, pancreas, pharyngo-tympanic tube, respiratory, stomach, testis, thymus primordium, urethra, ventricular layer, vibrissa	OMIM|601532
RG-div1	SEPN1	0.430001136	5.23E-10			
RG-div1	SMARCA1	0.395855835	5.40E-10	Transcription regulatory protein	BrainSpLMD|6594;Eurexp|euxassay_015278|floorplate, hindgut, midgut, stomach	OMIM|300012
RG-div1	PMPCA	0.384229313	5.43E-10	Protease	BrainSpLMD|23203	OMIM|613036;HPO|23203|Abnormality of the retinal vasculature, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Cataract, Cerebellar hypoplasia, Delayed speech and language development, Dysarthria, Dysmetria, Gait ataxia, Gait disturbance, Generalized hypopigmentation, Generalized hypotonia, Global developmental delay, Hyperreflexia, Incoordination, Infantile onset, Intellectual disability, Limb ataxia, Malabsorption, Muscular hypotonia, Nonprogressive, Nystagmus, Ocular albinism, Saccadic smooth pursuit, Scoliosis, Spasticity, Tremor, Unsteady gait, White hair
RG-div1	CXXC5	0.446715276	5.47E-10	DNA binding protein	BrainSpLMD|51523	OMIM|612752
RG-div1	TMF1	0.256048599	5.90E-10	Transcription factor	BrainSpLMD|7110;Eurexp|euxassay_016101|mandible, maxilla	OMIM|601126
RG-div1	F2R	0.276571899	6.11E-10	G protein coupled receptor	BrainSpLMD|2149;Eurexp|euxassay_009165|mesenchyme	OMIM|187930
RG-div1	HYLS1	0.925885491	6.17E-10	Unclassified	BrainSpLMD|219844	OMIM|610693;HPO|219844|Abnormal cortical gyration, Abnormality of cardiovascular system morphology, Abnormality of the sense of smell, Abnormality of the vagina, Absent septum pellucidum, Accessory spleen, Adrenal gland dysgenesis, Agenesis of corpus callosum, Agenesis of the diaphragm, Apnea, Arrhinencephaly, Ataxia, Autosomal recessive inheritance, Bifid nose, Bifid uvula, Biparietal narrowing, Broad neck, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Deeply set eye, Episodic tachypnea, Feeding difficulties in infancy, Gait disturbance, Gingival cleft, Global developmental delay, Heterotopia, Hydrocephalus, Intellectual disability, Intrauterine growth retardation, Laryngomalacia, Long face, Low-set, posteriorly rotated ears, Median cleft lip, Micrognathia, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Omphalocele, Polyhydramnios, Postaxial hand polydactyly, Preaxial hand polydactyly, Premature birth, Proximal tibial hypoplasia, Retrognathia, Submucous cleft hard palate, Tracheal atresia, Unilateral cleft lip, Ventricular septal defect
RG-div1	MBNL1	0.394913119	6.41E-10	RNA binding protein	BrainSpLMD|4154	OMIM|606516
RG-div1	EGR2	1.041313321	6.50E-10	Transcription factor	BrainSpLMD|1959;Eurexp|euxassay_000939|vibrissa;BrainSpMouseDev|13432	SFARI||Autism, 5 - Hypothesized but untested;OMIM|129010;HPO|1959|Abnormality of the cranial nerves, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital onset, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Generalized hypotonia, Hammertoe, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Increased CSF protein, Infantile onset, Juvenile onset, Kyphoscoliosis, Motor delay, Neonatal hypotonia, Onion bulb formation, Peripheral hypomyelination, Peripheral neuropathy, Pes cavus, Segmental peripheral demyelination/remyelination, Sensory ataxia, Split hand, Steppage gait, Ulnar claw, Upper limb muscle weakness, Variable expressivity
RG-div1	REPS1	0.705404572	6.65E-10	Calcium binding protein	BrainSpLMD|85021;Eurexp|euxassay_000289|cranium, dorsal root ganglion, lung, mantle layer, otic capsule, thymus primordium, ventral grey horn	OMIM|614825
RG-div1	FAM227A	0.488084766	6.92E-10			
RG-div1	DPY19L4	1.002432277	6.94E-10	Unclassified	BrainSpLMD|286148	OMIM|613895
RG-div1	GTF2A1	0.575721199	7.04E-10	Transcription factor	BrainSpLMD|2957;Eurexp|euxassay_010712|olfactory	OMIM|600520
RG-div1	TIMM10	0.449930645	7.23E-10	Chaperone	BrainSpLMD|26519	OMIM|602251
RG-div1	LSM4	0.330120419	7.26E-10	RNA binding protein	BrainSpLMD|25804	OMIM|607284
RG-div1	PGAM1	0.259406927	7.51E-10	Enzyme: Mutase		OMIM|172250
RG-div1	KIF13A	0.658187862	7.52E-10	Motor protein	BrainSpLMD|63971;Eurexp|euxassay_011388|anterior, bladder, dorsal root ganglion, external, facial VII, incisor, left lung, mantle layer, molar, naso-lacrimal duct, oral epithelium, pharyngo-tympanic tube, right lung, submandibular gland primordium, urethra	OMIM|605433
RG-div1	GTF2H2	0.636316325	7.56E-10	Transcription factor	Eurexp|euxassay_019537|incisor, liver, lung, metanephros, midgut, pancreas, submandibular gland primordium, thymus primordium, vibrissa	OMIM|601748
RG-div1	DMD	0.255869863	7.61E-10	Structural protein	BrainSpLMD|1756;Eurexp|euxassay_010997|incisor, lateral wall, mantle layer, molar, ventricular layer, vibrissa	SFARI||Autism, No category;OMIM|300377;HPO|1756|Abnormal urinary color, Adult onset, Arrhythmia, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Childhood onset, Cognitive impairment, Congestive heart failure, Delayed speech and language development, Difficulty climbing stairs, Difficulty walking, Dilated cardiomyopathy, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Exercise intolerance, Falls, Fatigue, Flexion contracture, Generalized hypotonia, Global developmental delay, Gowers sign, Hyperlordosis, Hyporeflexia, Hypoventilation, Intellectual disability, Intellectual disability, mild, Motor delay, Muscle cramps, Muscle weakness, Muscular dystrophy, Myalgia, Myoglobinuria, Progressive muscle weakness, Proximal muscle weakness, Respiratory failure, Respiratory insufficiency, Scoliosis, Skeletal muscle atrophy, Specific learning disability, Waddling gait, X-linked inheritance, X-linked recessive inheritance
RG-div1	SPPL2A	0.269635035	7.64E-10		BrainSpLMD|84888;Eurexp|euxassay_010397|clavicle, mandible, maxilla, orbito-sphenoid, rib, thymus primordium	OMIM|608238
RG-div1	MXD1	0.302558899	7.67E-10	Transcription regulatory protein	BrainSpLMD|4084;BrainSpMouseDev|16889	OMIM|600021
RG-div1	UACA	0.563972775	7.81E-10	Unclassified	BrainSpLMD|55075	OMIM|612516
RG-div1	TPP2	0.349737344	7.86E-10	Aminopeptidase	BrainSpLMD|7174	OMIM|190470;HPO|7174|Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemiparesis, Hepatitis, Lymphadenopathy, Lymphopenia, Moderate global developmental delay, Recurrent otitis media, Respiratory tract infection, Splenomegaly, Stroke, Systemic lupus erythematosus
RG-div1	RP11.50D9.1	0.873624865	8.32E-10			
RG-div1	ATF7IP	0.555469475	8.35E-10	Transcription regulatory protein	BrainSpLMD|55729	OMIM|613644
RG-div1	DTNA	0.619179263	8.38E-10	Unclassified	BrainSpLMD|1837;Eurexp|euxassay_010455|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|601239;HPO|1837|Atrial fibrillation, Autosomal dominant inheritance, Congestive heart failure, Hypoplastic left heart, Left ventricular hypertrophy, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Patent ductus arteriosus, Sudden cardiac death, Ventricular arrhythmia, Ventricular septal defect
RG-div1	SVIP	0.818992458	8.39E-10			
RG-div1	NELFE	0.494110436	8.43E-10	RNA binding protein	BrainSpLMD|7936	OMIM|154040
RG-div1	TMEM11	0.36893671	8.51E-10	Integral membrane protein	BrainSpLMD|8834	
RG-div1	CCDC152	0.280383233	8.52E-10	Unclassified		
RG-div1	TPM2	0.3269284	8.77E-10	Cytoskeletal protein	BrainSpLMD|7169	OMIM|190990;HPO|7169|Abnormality of the ear, Abnormality of the hip bone, Absent phalangeal crease, Adducted thumb, Aplasia/Hypoplasia of the radius, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bulbar palsy, Calcaneovalgus deformity, Camptodactyly, Camptodactyly of finger, Centrally nucleated skeletal muscle fibers, Childhood onset, Congenital onset, Decreased fetal movement, Difficulty walking, Dilated cardiomyopathy, Distal arthrogryposis, Downslanted palpebral fissures, Dysphagia, Elbow flexion contracture, Facial diplegia, Facial palsy, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Generalized muscle weakness, Gowers sign, Heterogeneous, High palate, Hyporeflexia, Joint stiffness, Kyphoscoliosis, Limb muscle weakness, Long face, Long philtrum, Lumbar hyperlordosis, Mandibular prognathia, Metatarsus adductus, Micrognathia, Motor delay, Muscular hypotonia, Myopathic facies, Myopathy, Narrow face, Narrow mouth, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Overlapping fingers, Pectus excavatum, Prominent nasolabial fold, Protruding ear, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Reduced tendon reflexes, Reduced vital capacity, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Rocker bottom foot, Round ear, Scapular winging, Scoliosis, Short neck, Short stature, Skeletal muscle atrophy, Talipes, Talipes equinovarus, Tarsal synostosis, Triangular face, Type 1 fibers relatively smaller than type 2 fibers, Type 1 muscle fiber predominance, Ulnar deviation of finger, Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the wrist, Variable expressivity, Vertebral segmentation defect, Waddling gait, Weak cry, Webbed neck, Wide nasal bridge
RG-div1	SEPP1	0.519832673	8.82E-10			
RG-div1	PLXNC1	0.575179114	8.82E-10	Integral membrane protein	BrainSpLMD|10154;BrainSpMouseDev|34001	OMIM|604259
RG-div1	HPS5	0.433056754	9.25E-10	Unclassified	BrainSpLMD|11234	OMIM|607521;HPO|11234|Albinism, Autosomal recessive inheritance, Bruising susceptibility, Ocular albinism, Thrombocytopenia
RG-div1	HAUS3	0.457354928	9.59E-10	Unclassified	BrainSpLMD|79441;Eurexp|euxassay_001476|cervical, cervico-thoracic, cortex, thoracic, thymus primordium, ventricular layer	OMIM|613430
RG-div1	INSIG1	0.416833834	9.71E-10	Integral membrane protein	BrainSpLMD|3638;Eurexp|euxassay_011040|cervical, cervico-thoracic, glossopharyngeal IX, hindgut, incisor, lobe, mandible, maxilla, mesenchyme, midgut, neural retina, rectum, stomach, thoracic, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|602055
RG-div1	LRRC37A4P	0.287499797	1.01E-09			
RG-div1	NGDN	0.295889947	1.03E-09	Unclassified	BrainSpLMD|25983	OMIM|610777
RG-div1	SCOC	0.31127905	1.07E-09	Unclassified	BrainSpLMD|60592;Eurexp|euxassay_002885|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X	
RG-div1	IRF2	0.476260159	1.09E-09	Transcription factor	BrainSpLMD|3660;BrainSpMouseDev|16136	OMIM|147576
RG-div1	SCP2	0.360536084	1.10E-09	Membrane transport protein	BrainSpLMD|6342	SFARI||Autism, 4 - Minimal evidence;OMIM|184755;HPO|6342|Abnormal motor neuron morphology, Abnormality of saccadic eye movements, Abnormality of thalamus morphology, Autosomal recessive inheritance, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Hyposmia, Intention tremor, Leukoencephalopathy, Peripheral neuropathy, Torticollis
RG-div1	NUP93	0.2556443	1.11E-09	Membrane transport protein	BrainSpLMD|9688	OMIM|614351;HPO|9688|Autosomal recessive inheritance, Diffuse mesangial sclerosis, Hematuria, Progressive, Stage 5 chronic kidney disease
RG-div1	TFAM	0.540306962	1.14E-09	Transcription factor	BrainSpLMD|7019;Eurexp|euxassay_002182|thymus primordium, ventricular layer;BrainSpMouseDev|21539	OMIM|600438;HPO|7019|Abnormality of the coagulation cascade, Ascites, Autosomal recessive inheritance, Cirrhosis, Congenital onset, Death in infancy, Elevated hepatic transaminases, Failure to thrive, Hepatic failure, Hypoglycemia, Intrauterine growth retardation, Jaundice, Microvesicular hepatic steatosis, Progressive
RG-div1	GLDC	0.791713466	1.14E-09	Enzyme: Decarboxylase	BrainSpLMD|2731	OMIM|238300;HPO|2731|Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Death in infancy, Encephalopathy, Generalized hypotonia, Hyperactivity, Hyperglycinemia, Hyperglycinuria, Hyperreflexia, Impulsivity, Intellectual disability, Irritability, Lethargy, Myoclonus, Recurrent singultus, Restlessness, Seizures
RG-div1	FAM168B	0.479025963	1.14E-09	Unclassified	BrainSpLMD|130074	
RG-div1	HAUS2	0.914015073	1.23E-09	Unclassified	BrainSpLMD|55142	OMIM|613429
RG-div1	PARP14	1.008184609	1.27E-09	Unclassified	BrainSpLMD|54625	OMIM|610028
RG-div1	ZFYVE16	0.321869212	1.29E-09	Membrane transport protein	BrainSpLMD|9765	OMIM|608880
RG-div1	VCP	0.291050646	1.37E-09	ATPase	BrainSpLMD|7415	OMIM|601023;HPO|7415|Abnormal brain FDG positron emission tomography, Abnormal nerve conduction velocity, Abnormality of pelvic girdle bone morphology, Abnormality of the cerebral white matter, Absent Achilles reflex, Aggressive behavior, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apraxia, Arthralgia, Autosomal dominant inheritance, Babinski sign, Back pain, Collectionism, Depressivity, Difficulty climbing stairs, Disinhibition, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, Dyspnea, Dystonia, EEG with continuous slow activity, EMG: neuropathic changes, Echolalia, Elevated alkaline phosphatase, Elevated alkaline phosphatase of bone origin, Elevated serum creatine phosphokinase, Emotional blunting, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontal cortical atrophy, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait disturbance, Gait imbalance, Generalized muscle weakness, Grammar-specific speech disorder, Hammertoe, Hip pain, Hyperorality, Impaired vibration sensation in the lower limbs, Inappropriate behavior, Irritability, Lack of insight, Limb fasciculations, Limb muscle weakness, Loss of speech, Lower limb hyperreflexia, Lumbar hyperlordosis, Memory impairment, Muscle cramps, Muscle weakness, Myopathy, Neurodegeneration, Pain, Paralysis, Pelvic girdle amyotrophy, Pelvic girdle muscle atrophy, Pelvic girdle muscle weakness, Perseveration, Personality changes, Pes cavus, Poor speech, Progressive, Proximal muscle weakness, Respiratory failure, Restlessness, Restrictive behavior, Rimmed vacuoles, Scapular winging, Shoulder girdle muscle atrophy, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Spastic gait, Spastic paraplegia, Spasticity, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold, Tongue fasciculations, Variable expressivity, Xerostomia
RG-div1	CCNE2	0.733535268	1.39E-09	Cell cycle control protein	BrainSpLMD|9134	OMIM|603775
RG-div1	MFAP1	0.281084341	1.39E-09	Extracellular matrix protein	BrainSpLMD|4236	OMIM|600215
RG-div1	PCNXL4	0.413284513	1.39E-09			
RG-div1	PRUNE2	1.0886914	1.40E-09	Unclassified	BrainSpLMD|158471;Eurexp|euxassay_011113|diaphragm, dorsal root ganglion, facial VII, floor plate, floorplate, footplate, glossopharyngeal IX, handplate, mantle layer, marginal layer, medulla, midgut, neural retina, oesophagus, olfactory, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, stomach, tegmentum, thymus primordium, trigeminal V, vagus X, ventral grey horn, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|610691
RG-div1	SRR	0.283064651	1.43E-09	Enzyme: Racemase	BrainSpLMD|63826	OMIM|606477
RG-div1	AK2	0.317566787	1.48E-09	Enzyme: Phosphotransferase	BrainSpLMD|204;Eurexp|euxassay_001711|axial muscle, cortex, foregut-midgut junction, hindgut, lobe, midgut, molar, nucleus pulposus, orbito-sphenoid, rectum, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|103020;HPO|204|Abnormality of mitochondrial metabolism, Abnormality of neutrophils, Abnormality of the thymus, Absent cellular immunity, Anemia, Aplasia/Hypoplasia of the thymus, Autosomal recessive inheritance, Cellular immunodeficiency, Chronic otitis media, Congenital agranulocytosis, Decreased antibody level in blood, Diarrhea, Failure to thrive, Fever, Hearing impairment, Leukopenia, Lymphopenia, Malabsorption, Recurrent respiratory infections, Sepsis, Severe combined immunodeficiency, Weight loss
RG-div1	TRMU	1.410614154	1.51E-09	RNA methyltransferase	BrainSpLMD|55687	OMIM|610230;HPO|55687|Abdominal distention, Abnormality of the coagulation cascade, Acute hepatic failure, Aminoglycoside-induced hearing loss, Autosomal recessive inheritance, Elevated hepatic transaminases, Feeding difficulties in infancy, Generalized hypotonia, Hepatomegaly, Hyperbilirubinemia, Increased serum lactate, Jaundice, Lactic acidosis, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Mitochondrial inheritance, Mitochondrial respiratory chain defects, Vomiting
RG-div1	RMI1	0.562421454	1.63E-09	Unclassified	BrainSpLMD|80010	OMIM|610404
RG-div1	LYRM7	0.46485657	1.74E-09	Unclassified	BrainSpLMD|90624	OMIM|615831;HPO|90624|Abnormality of the periventricular white matter, Anemia, Ataxia, Autosomal recessive inheritance, Brisk reflexes, Cerebral atrophy, Developmental regression, Dysarthria, Exotropia, External ophthalmoplegia, Failure to thrive, Gait disturbance, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Increased serum lactate, Intellectual disability, Lactic acidosis, Lethargy, Muscle weakness, Nystagmus, Optic disc pallor, Progressive, Rapidly progressive, Respiratory failure, Spastic tetraparesis
RG-div1	TRMT5	0.25957855	1.75E-09	Enzyme: Methyltransferase	BrainSpLMD|57570	OMIM|611023;HPO|57570|Abnormal activity of mitochondrial respiratory chain, Autosomal recessive inheritance, Babinski sign, Blue sclerae, Brain atrophy, Cirrhosis, Delayed myelination, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Hyperreflexia, Hyporeflexia, Increased serum lactate, Malabsorption, Muscular hypotonia, Narrow mouth, Phenotypic variability, Poor speech, Spasticity, Triangular face
RG-div1	RNF169	0.541604358	1.77E-09	Transcription regulatory protein		
RG-div1	MCFD2	0.292786246	1.78E-09	Unclassified	BrainSpLMD|90411;Eurexp|euxassay_000692|Meckel's cartilage, chondrocranium, incisor, molar	OMIM|607788;HPO|90411|Autosomal recessive inheritance, Epistaxis, Menorrhagia, Persistent bleeding after trauma, Reduced factor V activity, Reduced factor VIII activity
RG-div1	GINM1	0.463642731	1.79E-09	Integral membrane protein	BrainSpLMD|116254	
RG-div1	AHCTF1	0.40694362	1.81E-09	Transcription factor	BrainSpLMD|25909;BrainSpMouseDev|86466	OMIM|610853
RG-div1	TXN2	0.381229233	1.83E-09	Enzyme: Oxidoreductase	BrainSpLMD|25828	OMIM|609063;HPO|25828|Autosomal recessive inheritance, Axonal degeneration, Cerebellar atrophy, Congenital onset, Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex III, Delayed CNS myelination, Dystonia, Feeding difficulties, Generalized hypotonia, Global brain atrophy, Global developmental delay, Increased CSF lactate, Increased CSF protein, Increased serum lactate, Infantile onset, Microcephaly, Optic atrophy, Optic neuropathy, Peripheral neuropathy, Progressive, Retinopathy, Seizures, Spasticity, Subependymal cysts
RG-div1	TLN1	0.79574456	1.83E-09	Cytoskeletal associated protein	BrainSpLMD|7094;Eurexp|euxassay_011794|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	OMIM|186745
RG-div1	SUCLA2	0.329599699	1.88E-09	Enzyme: Synthase	BrainSpLMD|8803;Eurexp|euxassay_018605|dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, right lung, trigeminal V, vagus X	OMIM|603921;HPO|8803|Abnormal electroretinogram, Abnormality of the basal ganglia, Abnormality of visual evoked potentials, Aminoaciduria, Ataxia, Athetosis, Autosomal recessive inheritance, Behavioral abnormality, Cachexia, Cerebral atrophy, Cerebral calcification, Decreased activity of mitochondrial respiratory chain, Decreased nerve conduction velocity, Delayed gross motor development, Dystonia, Elevated serum creatine phosphokinase, Facial diplegia, Failure to thrive, Feeding difficulties in infancy, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hyporeflexia, Infantile onset, Intellectual disability, progressive, Irritability, Lactic acidosis, Loss of ability to walk in early childhood, Methylmalonic acidemia, Methylmalonic aciduria, Microcephaly, Ophthalmoplegia, Peripheral neuropathy, Progressive encephalopathy, Ptosis, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment, Short stature, Skeletal muscle atrophy, Spasticity, Strabismus, Ventriculomegaly, Visual impairment
RG-div1	PRKD3	0.276794323	1.90E-09	Serine/threonine kinase	BrainSpLMD|23683	OMIM|607077
RG-div1	SMPD4	0.326961654	1.98E-09	Integral membrane protein	BrainSpLMD|55627;Eurexp|euxassay_012560|ventricular layer	OMIM|610457
RG-div1	AC004447.2	0.700911218	2.12E-09			
RG-div1	TSHZ1	0.314425524	2.17E-09	Transcription regulatory protein	BrainSpLMD|10194;Eurexp|euxassay_010168|interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, mesenchyme, midgut, olfactory, penis, pharyngo-tympanic tube, stomach;BrainSpMouseDev|74951	OMIM|614427;HPO|10194|Atresia of the external auditory canal, Autosomal dominant inheritance, Conductive hearing impairment, Hyposmia
RG-div1	ACN9	0.340555687	2.20E-09			
RG-div1	NSL1	0.433836289	2.23E-09	Unclassified	BrainSpLMD|25936	OMIM|609174
RG-div1	E2F3	0.531536226	2.26E-09	Transcription factor	BrainSpLMD|1871;BrainSpMouseDev|13336	OMIM|600427
RG-div1	CRK	0.500619978	2.29E-09	Adapter molecule	BrainSpLMD|1398	OMIM|164762
RG-div1	GAPDHP1	0.532407252	2.51E-09			
RG-div1	ASNA1	0.663665655	2.53E-09	ATPase	BrainSpLMD|439;Eurexp|euxassay_005141|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lung, metanephros, molar, olfactory, retina, spinal cord, submandibular gland primordium, thoracic, thymus primordium, tongue, trachea, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|601913
RG-div1	NAALADL2	0.578432881	2.57E-09	Unclassified	BrainSpLMD|254827;Eurexp|euxassay_016082|bladder, metanephros, oesophagus, olfactory, pancreas, stomach, urethra, vertebral axis muscle system, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|608806
RG-div1	FUBP1	0.310900232	2.58E-09	Transcription regulatory protein	BrainSpLMD|8880	OMIM|603444;COSMIC||oligodendroglioma
RG-div1	RAB11FIP2	0.320952515	2.60E-09	Adapter molecule	BrainSpLMD|22841;Eurexp|euxassay_014448|ductus deferens, ventricular layer	OMIM|608599
RG-div1	MGAT4C	0.747724321	2.70E-09	Enzyme: Glucosaminyltransferase	BrainSpLMD|25834	OMIM|607385
RG-div1	CKAP4	0.366629725	2.92E-09	Cytoskeletal associated protein	BrainSpLMD|10970	
RG-div1	NEK9	0.553247224	2.96E-09	Serine/threonine kinase;Cell cycle control protein	BrainSpLMD|91754	OMIM|609798;HPO|91754|Adducted thumb, Arthrogryposis multiplex congenita, Asthma, Atopic dermatitis, Atrial septal defect, Autosomal recessive inheritance, Camptodactyly, Cardiomegaly, Comedo, Fetal akinesia sequence, Full cheeks, Hamartoma, High palate, Hydrops fetalis, Hypoplasia of the thymus, Intrauterine growth retardation, Long philtrum, Micrognathia, Narrow palate, Oligohydramnios, Overlapping fingers, Overlapping toe, Overriding aorta, Pulmonary hypoplasia, Pulmonic stenosis, Pyloric stenosis, Short neck, Somatic mutation, Stiff neck, Talipes equinovarus, Thoracic scoliosis, Ventricular septal defect
RG-div1	PPP1CA	0.764778214	3.08E-09	Serine/threonine phosphatase	BrainSpLMD|5499	OMIM|176875
RG-div1	CLSTN1	0.522123637	3.09E-09	Calcium binding protein	BrainSpLMD|22883;BrainSpMouseDev|41788	OMIM|611321
RG-div1	TTI1	0.532790751	3.22E-09	Unclassified	BrainSpLMD|9675	OMIM|614425
RG-div1	POLR2A	0.42437198	3.34E-09	RNA polymerase	BrainSpLMD|5430	OMIM|180660
RG-div1	AFG3L2	0.509230071	3.34E-09	ATPase	BrainSpLMD|10939	OMIM|604581;HPO|10939|Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Cerebellar atrophy, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Dysphagia, Dystonia, Gait ataxia, Gaze-evoked nystagmus, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Increased intramyocellular lipid droplets, Infantile onset, Limb ataxia, Lower limb hyperreflexia, Muscle weakness, Myoclonus, Oculomotor apraxia, Ophthalmoparesis, Progressive, Ptosis, Sensorimotor neuropathy, Skeletal muscle atrophy, Slow progression, Slow saccadic eye movements, Spastic ataxia, Spastic paraparesis, Spasticity, Variable expressivity
RG-div1	ANAPC13	0.287819818	3.40E-09	Unclassified	BrainSpLMD|25847	OMIM|614484
RG-div1	INTS7	0.331555224	3.50E-09	Structural protein	BrainSpLMD|25896	OMIM|611350
RG-div1	PCYT1B	0.428837276	3.66E-09	Enzyme: Nucleotidyltransferase	BrainSpLMD|9468;Eurexp|euxassay_004655|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|300948
RG-div1	IFI6	0.487227126	3.67E-09	Unclassified	BrainSpLMD|2537	OMIM|147572
RG-div1	TMEM231	0.896854373	3.78E-09	Unclassified	BrainSpLMD|79583	SFARI||Autism, No category;OMIM|614949;HPO|79583|Absent speech, Aggressive behavior, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autistic behavior, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cataract, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cleft palate, Congenital hepatic fibrosis, Congenital onset, Cryptorchidism, Depressed nasal ridge, Encephalocele, Full cheeks, Global developmental delay, Hypertelorism, Intellectual disability, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Muscular hypotonia, Nephropathy, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Polycystic kidney dysplasia, Polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Ptosis, Renal cyst, Respiratory insufficiency, Retinal dystrophy, Sclerocornea, Self-mutilation, Sloping forehead, Tachypnea, Talipes
RG-div1	TPP1	0.898095409	3.78E-09	Serine protease	BrainSpLMD|1200;Eurexp|euxassay_002620|ventricular layer	OMIM|607998;HPO|1200|Abnormal nervous system electrophysiology, Ataxia, Autosomal recessive inheritance, Cerebral atrophy, Curvilinear intracellular accumulation of autofluorescent lipopigment storage material, Delayed speech and language development, Developmental regression, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigment, Myoclonus, Progressive visual loss, Retinal degeneration, Seizures, Undetectable electroretinogram
RG-div1	UBR7	0.658965841	3.88E-09	Unclassified	BrainSpLMD|55148	SFARI||Autism, 5 - Hypothesized but untested;OMIM|613816
RG-div1	C22orf29	0.590604682	4.10E-09			
RG-div1	GBAS	0.319916746	4.14E-09			
RG-div1	C1orf109	0.386067447	4.14E-09	Unclassified	BrainSpLMD|54955	OMIM|614799
RG-div1	ZNF621	0.442694424	4.30E-09	Transcription regulatory protein	BrainSpLMD|285268	
RG-div1	PITPNB	0.259739219	4.41E-09	Transport/cargo protein	BrainSpLMD|23760;Eurexp|euxassay_012385|thymus primordium	OMIM|606876
RG-div1	POT1	0.844917356	4.47E-09	DNA binding protein	BrainSpLMD|25913;Eurexp|euxassay_000324|basisphenoid bone, otic capsule, telencephalon, ventricular layer	SFARI||Autism, No category;OMIM|606478;COSMIC||CLL;HPO|25913|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus
RG-div1	CARS	0.642126564	4.60E-09	Enzyme: Ligase	BrainSpLMD|833	OMIM|123859;COSMIC||ALCL
RG-div1	U2AF2	0.372054316	4.66E-09	RNA binding protein	BrainSpLMD|11338;Eurexp|euxassay_003614|bladder, hindgut, left, midgut, naris, oesophagus, olfactory, rectum, respiratory, right, stomach, submandibular gland primordium, thymus primordium, thyroid, urethra, vibrissa	OMIM|191318
RG-div1	CPSF1	0.488692409	4.66E-09	RNA binding protein	BrainSpLMD|29894	OMIM|606027
RG-div1	CAAP1	0.484669599	4.69E-09	Unclassified	BrainSpLMD|79886	
RG-div1	TM9SF2	0.306570932	4.88E-09	Integral membrane protein	BrainSpLMD|9375;Eurexp|euxassay_008168|basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, left, midgut, orbito-sphenoid, otic capsule, petrous part, rib, right, turbinate	OMIM|604678
RG-div1	LTA4H	0.355592185	4.92E-09	Enzyme: Hydrolase	BrainSpLMD|4048	OMIM|151570
RG-div1	BRIX1	0.312226396	4.93E-09	Unclassified	BrainSpLMD|55299	
RG-div1	ENHO	0.882471812	4.95E-09	Unclassified	BrainSpLMD|375704	
RG-div1	HCFC1	0.457934637	4.98E-09	Transcription factor	BrainSpLMD|3054	SFARI||Autism, No category;OMIM|300019;HPO|3054|Brachycephaly, Failure to thrive, Generalized hypotonia, Hypsarrhythmia, Infantile onset, Intellectual disability, Methylmalonic acidemia, Methylmalonic aciduria, Microcephaly, Short stature, X-linked inheritance, X-linked recessive inheritance
RG-div1	RBM17	0.304067848	5.08E-09	RNA binding protein	BrainSpLMD|84991	OMIM|606935
RG-div1	C14orf1	0.259436363	5.13E-09			
RG-div1	ZNF24	0.314302731	5.25E-09	Transcription regulatory protein	BrainSpLMD|7572;BrainSpMouseDev|37620	OMIM|194534
RG-div1	KBTBD2	0.396251463	5.29E-09	Cytoskeletal associated protein	BrainSpLMD|25948	
RG-div1	ELP5	0.490534259	5.31E-09	Unclassified	BrainSpLMD|23587	OMIM|615019
RG-div1	CISD2	0.318974279	5.31E-09	Unclassified	BrainSpLMD|493856	OMIM|611507;HPO|493856|Abnormal bleeding, Abnormality of mesentery morphology, Ataxia, Autosomal recessive inheritance, Depressivity, Diabetes insipidus, Diabetes mellitus, Dysarthria, Dysuria, Feeding difficulties in infancy, Impaired collagen-induced platelet aggregation, Nephropathy, Nystagmus, Optic atrophy, Optic neuropathy, Polydipsia, Recurrent urinary tract infections, Seizures, Sensorineural hearing impairment
RG-div1	FAM135A	0.450078562	5.41E-09	Unclassified	BrainSpLMD|57579	
RG-div1	PPP1CC	0.767026036	5.49E-09	Serine/threonine phosphatase	BrainSpLMD|5501	OMIM|176914
RG-div1	OPHN1	0.340822897	5.53E-09	GTPase activating protein	BrainSpLMD|4983	SFARI||Autism, 3 - Suggestive evidence;OMIM|300127;HPO|4983|Attention deficit hyperactivity disorder, Autism, Cerebellar hypoplasia, Cryptorchidism, Deeply set eye, Delayed speech and language development, Disorganization of the anterior cerebellar vermis, Dysmetria, Enlarged cisterna magna, Frontal bossing, Gait ataxia, Generalized hypotonia, Global developmental delay, Hyperactivity, Hypotelorism, Infantile onset, Intellectual disability, Long face, Long nose, Macrocephaly, Macrotia, Mandibular prognathia, Micropenis, Microphallus, Muscular hypotonia, Neurological speech impairment, Nystagmus, Prominent forehead, Prominent supraorbital ridges, Retrocerebellar cyst, Scrotal hypoplasia, Seizures, Short philtrum, Spasticity, Strabismus, Thin upper lip vermilion, X-linked recessive inheritance
RG-div1	TOP1	0.252199402	5.56E-09	Enzyme: Topoisomerase	BrainSpLMD|7150;BrainSpMouseDev|21726	SFARI||Autism, 5 - Hypothesized but untested;OMIM|126420;COSMIC||AML*
RG-div1	ATP10D	0.680064847	5.90E-09	ATPase	BrainSpLMD|57205	
RG-div1	MRPS16	0.502573882	5.91E-09	Ribosomal subunit	BrainSpLMD|51021	OMIM|609204;HPO|51021|Abnormal facial shape, Agenesis of corpus callosum, Autosomal recessive inheritance, Brachydactyly, Congenital onset, Edema, Elevated hepatic transaminases, Feeding difficulties in infancy, Heterogeneous, Hypokinesia, Increased serum lactate, Lactic acidosis, Lethargy, Low-set ears, Neonatal hypotonia, Patent ductus arteriosus, Redundant neck skin, Small for gestational age, Ventriculomegaly
RG-div1	HDGF	0.575667873	6.08E-09	Growth factor	BrainSpLMD|3068;Eurexp|euxassay_002405|epithelium, incisor, lobe, molar, naris, olfactory, oral epithelium, orbito-sphenoid, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|600339
RG-div1	NOL10	0.294602368	6.16E-09	Unclassified	BrainSpLMD|79954	OMIM|616197
RG-div1	LRRC17	1.124934128	6.18E-09	Unclassified	BrainSpLMD|10234	
RG-div1	LSM8	0.296670278	6.35E-09	RNA binding protein	BrainSpLMD|51691	OMIM|607288
RG-div1	POLR2D	0.410209717	6.47E-09	RNA polymerase	BrainSpLMD|5433	OMIM|606017
RG-div1	RHOBTB3	0.27046524	6.49E-09	GTPase	BrainSpLMD|22836;Eurexp|euxassay_004272|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|607353
RG-div1	ZNF92	0.410642199	6.56E-09	Transcription regulatory protein	BrainSpLMD|168374	OMIM|603974
RG-div1	ATE1	0.549370609	6.83E-09	Enzyme: Acyltransferase	BrainSpLMD|11101;Eurexp|euxassay_002987|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|607103
RG-div1	OTUD7B	0.430787997	7.27E-09	Ubiquitin proteasome system protein	BrainSpLMD|56957	OMIM|611748
RG-div1	QARS	0.520051058	7.32E-09	Enzyme: Ligase	BrainSpLMD|5859	OMIM|603727;HPO|5859|Autosomal recessive inheritance, CNS hypomyelination, Cerebellar vermis atrophy, Cerebral atrophy, Epicanthus, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Hypotelorism, Low-set ears, Narrow forehead, Posteriorly rotated ears, Progressive, Progressive microcephaly, Sloping forehead, Status epilepticus, Ventriculomegaly
RG-div1	HDAC6	0.414239952	7.50E-09	Enzyme: Deacetylase	BrainSpLMD|10013;Eurexp|euxassay_013594|cortex, left lung, marginal layer, pancreas, right lung, thyroid;BrainSpMouseDev|14961	SFARI||Autism, No category;OMIM|300272;HPO|10013|Abnormality of the calcaneus, Death in infancy, Decreased skull ossification, Depressed nasal ridge, Distal shortening of limbs, Frontal bossing, Hydrocephalus, Hypoplasia of the calcaneus, Hypoplastic iliac wing, Intellectual disability, mild, Intrauterine growth retardation, Low-set ears, Macrocephaly, Metaphyseal chondrodysplasia, Metaphyseal cupping of metacarpals, Metaphyseal cupping of proximal phalanges, Microphthalmia, Platyspondyly, Rhizomelia, Short foot, Short nose, Short palm, Short stature, Thin ribs, X-linked dominant inheritance
RG-div1	STX16	0.321512675	7.51E-09	Transport/cargo protein	BrainSpLMD|8675;Eurexp|euxassay_014483|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vestibulocochlear VIII	OMIM|603666;HPO|8675|Autosomal dominant inheritance, Cataract, Delayed eruption of teeth, Depressed nasal bridge, Elevated circulating parathyroid hormone level, Full cheeks, Hyperphosphatemia, Hypocalcemia, Hypoplasia of dental enamel, Low urinary cyclic AMP response to PTH administration, Nystagmus, Pseudohypoparathyroidism, Round face, Short neck, Short stature, Sporadic
RG-div1	USP13	0.348130937	7.64E-09	Ubiquitin proteasome system protein	BrainSpLMD|8975	OMIM|603591
RG-div1	MATR3	0.250153266	7.65E-09	RNA binding protein	BrainSpLMD|9782	OMIM|164015;HPO|9782|Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Abnormality of the nasopharynx, Adult onset, Amyotrophic lateral sclerosis, Anxiety, Aspiration, Autosomal dominant inheritance, Bowing of the vocal cords, Bulbar palsy, Bulbar signs, Decreased nerve conduction velocity, Depressivity, Distal muscle weakness, Dysarthria, Dysphagia, Dyspnea, Elevated serum creatine phosphokinase, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Hoarse voice, Hyperreflexia, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Respiratory insufficiency due to muscle weakness, Rimmed vacuoles, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Spasticity, Variable expressivity, Xerostomia
RG-div1	ANXA7	0.275267311	7.77E-09	Calcium binding protein	BrainSpLMD|310	OMIM|186360
RG-div1	PPIH	0.328786104	7.82E-09	Chaperone	BrainSpLMD|10465;Eurexp|euxassay_008211|embryo	OMIM|606095
RG-div1	DHRS7B	0.646771929	7.86E-09	Enzyme: Oxidoreductase	BrainSpLMD|25979	OMIM|616160
RG-div1	TMEM19	0.763195663	8.17E-09	Integral membrane protein	BrainSpLMD|55266	
RG-div1	OXNAD1	0.79389861	8.31E-09	Unclassified	BrainSpLMD|92106	
RG-div1	GPD2	0.445086447	8.49E-09	Enzyme: Dehydrogenase	BrainSpLMD|2820;Eurexp|euxassay_018668|nucleus pulposus, submandibular gland primordium	SFARI||Autism, No category;OMIM|138430
RG-div1	CYSTM1	0.31352064	8.50E-09	Unclassified	BrainSpLMD|84418	
RG-div1	PHF1	0.403472159	8.62E-09	Transcription factor	BrainSpLMD|5252	OMIM|602881
RG-div1	LSG1	0.333460668	8.70E-09	GTPase	BrainSpLMD|55341	OMIM|610780
RG-div1	TUBAP2	0.331899326	8.74E-09			
RG-div1	AFF1	0.419513648	8.91E-09	Transcription factor	BrainSpLMD|4299	OMIM|159557;COSMIC||AL
RG-div1	CNIH1	0.250679211	8.99E-09	Integral membrane protein	BrainSpLMD|10175	OMIM|611287
RG-div1	ASRGL1	0.520986202	9.13E-09	Unclassified	BrainSpLMD|80150;Eurexp|euxassay_000035|central nervous system, corpus striatum, ventricular layer	OMIM|609212
RG-div1	RCOR1	0.421809415	9.44E-09	Transcription regulatory protein	BrainSpLMD|23186;Eurexp|euxassay_011825|olfactory, vomeronasal organ	OMIM|607675
RG-div1	MTF1	0.536562813	1.04E-08	Transcription factor	BrainSpMouseDev|17531	SFARI||Autism, 4 - Minimal evidence;OMIM|600172
RG-div1	TAPBP	0.693522692	1.05E-08	Chaperone	BrainSpLMD|6892;Eurexp|euxassay_009813|dorsal root ganglion, facial VII, glossopharyngeal IX, thymus primordium, trigeminal V, ventral grey horn	OMIM|601962;HPO|6892|Autosomal recessive inheritance, Bronchiectasis, Bronchiolitis, Chronic otitis media, Chronic sinusitis, Ectopia lentis, Emphysema, Nasal polyposis, Recurrent bronchitis, Skin ulcer
RG-div1	HSPA14	0.408291038	1.11E-08	Chaperone	BrainSpLMD|51182	OMIM|610369
RG-div1	RP11.1023L17.1	0.27836321	1.14E-08			
RG-div1	FAM53C	0.534324708	1.14E-08	Unclassified	BrainSpLMD|51307	OMIM|609372
RG-div1	ASH2L	0.444959947	1.15E-08	DNA binding protein	BrainSpLMD|9070;Eurexp|euxassay_011361|molar, olfactory, primitive seminiferous tubules, vomeronasal organ	OMIM|604782
RG-div1	FLVCR1	0.627119217	1.15E-08	Transport/cargo protein	BrainSpLMD|28982	OMIM|609144;HPO|28982|Achalasia, Areflexia, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Broad-based gait, Camptodactyly, Childhood onset, Decreased sensory nerve conduction velocity, Distal muscle weakness, Impaired vibration sensation in the lower limbs, Joint contracture of the hand, Nyctalopia, Optic atrophy, Positive Romberg sign, Recurrent urinary tract infections, Ring scotoma, Rod-cone dystrophy, Scoliosis, Scotoma, Sensory ataxia, Skeletal muscle atrophy, Slow progression, Undetectable electroretinogram, Urinary incontinence
RG-div1	PTCH1	0.269591216	1.16E-08	Cell surface receptor	Eurexp|euxassay_017091|axial skeleton, basioccipital bone, basisphenoid bone, bladder, clavicle, ductus deferens, femur, fibula, hindgut, humerus, incisor, lung, mandible, maxilla, mesenchyme, midgut, oesophagus, pelvic girdle, phalanx, radius, rib, scapula, skeleton, stomach, tibia, ulna, urethra, ventricular layer, vibrissa;BrainSpMouseDev|18969	OMIM|601309;COSMIC||skin basal cell, medulloblastoma, skin basal cell, medulloblastoma;HPO|5727|Abnormality of the neck, Abnormality of the ribs, Abnormality of the sternum, Absent nasal septal cartilage, Accelerated skeletal maturation, Agenesis of corpus callosum, Alobar holoprosencephaly, Arnold-Chiari malformation, Autosomal dominant inheritance, Basal cell carcinoma, Bifid ribs, Bilateral cleft lip and palate, Bilateral microphthalmos, Brachydactyly, Bridged sella turcica, Broad face, Calcification of falx cerebri, Cardiac fibroma, Cardiac rhabdomyoma, Cataract, Cerebral calcification, Cleft palate, Cleft upper lip, Coarse facial features, Delayed eruption of teeth, Down-sloping shoulders, Downslanted palpebral fissures, Epicanthus, Feeding difficulties, Flat nasal alae, Flat occiput, Frontal bossing, Fusion of the left and right thalami, Glaucoma, Global developmental delay, Hamartomatous stomach polyps, Hemivertebrae, Heterogeneous, Hydrocephalus, Hyperactivity, Hypertelorism, Hypoplasia of the premaxilla, Hypotelorism, Incomplete penetrance, Intellectual disability, Iris coloboma, Irregular ossification of hand bones, Joint hyperflexibility, Kyphoscoliosis, Kyphosis, Large for gestational age, Long philtrum, Low-set ears, Macrocephaly, Macrotia, Mandibular prognathia, Median cleft lip and palate, Medulloblastoma, Melanocytic nevus, Metopic synostosis, Microphthalmia, Midface retrusion, Midline defect of the nose, Milia, Motor delay, Muscular hypotonia, Narrow mouth, Neoplasm, Odontogenic keratocysts of the jaw, Oral cleft, Orbital cyst, Ovarian carcinoma, Ovarian fibroma, Palmar pits, Panhypopituitarism, Parietal bossing, Pectus excavatum, Plantar pits, Polydactyly, Retinopathy, Scoliosis, Seizures, Semilobar holoprosencephaly, Short 4th metacarpal, Short distal phalanx of the thumb, Short neck, Short nose, Short ribs, Single median maxillary incisor, Skin tags, Spina bifida, Sprengel anomaly, Strabismus, Supernumerary ribs, Tall stature, Thickened ears, Trigonocephaly, Umbilical hernia, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vertebral fusion, Vertebral wedging, Wide nasal bridge
RG-div1	RBMXP2	0.538083556	1.19E-08			
RG-div1	PATZ1	0.39763297	1.20E-08	Transcription regulatory protein	BrainSpLMD|23598;Eurexp|euxassay_019522|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, metanephros, midgut, molar, oesophagus, olfactory, pancreas, pituitary, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ;BrainSpMouseDev|35501	OMIM|605165;COSMIC||Ewing sarcoma
RG-div1	RBL2	0.558800974	1.21E-08	Cell cycle control protein	BrainSpLMD|5934	OMIM|180203
RG-div1	NSMCE2	0.518745281	1.23E-08	DNA repair protein	BrainSpLMD|286053	OMIM|617246;HPO|286053|Acanthosis nigricans, Acute pancreatitis, Autosomal recessive inheritance, Cone-shaped epiphysis, Congestive heart failure, Dilatation of abdominal aorta, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Glucose intolerance, Glycosuria, Hepatic steatosis, Hypertension, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Malar prominence, Metaphyseal widening, Microcephaly, Micrognathia, Microretrognathia, Primary gonadal insufficiency, Retinal detachment, Severe short-limb dwarfism, Skin tags, Slender long bone, Ventricular hypertrophy
RG-div1	ATR	0.647335055	1.25E-08	Serine/threonine kinase	BrainSpLMD|545	OMIM|601215;COSMIC||endometrial, gastric, epithelial ovarian, myeloma, oropharyngeal, Seckel syndrome 1;HPO|545|11 pairs of ribs, Abnormal finger flexion creases, Abnormality of dental enamel, Abnormality of the pinna, Absent earlobe, Alopecia, Autosomal dominant inheritance, Autosomal recessive inheritance, Blepharophimosis, Cachexia, Carious teeth, Cerebellar vermis hypoplasia, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Cognitive impairment, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Convex nasal ridge, Craniosynostosis, Cryptorchidism, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Dislocated radial head, Downslanted palpebral fissures, Elbow flexion contracture, Facial asymmetry, Glaucoma, High palate, Hip dislocation, Hip dysplasia, Hyperactivity, Hypoplasia of dental enamel, Hypoplasia of proximal fibula, Hypoplasia of proximal radius, Hypospadias, Intellectual disability, Intrauterine growth retardation, Ivory epiphyses, Joint hyperflexibility, Large basal ganglia, Large eyes, Low-set ears, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Pachygyria, Pancytopenia, Pes planus, Postnatal growth retardation, Prematurely aged appearance, Prominent nose, Proportionate short stature, Reduced number of teeth, Sandal gap, Scoliosis, Seizures, Selective tooth agenesis, Short stature, Single transverse palmar crease, Sloping forehead, Small anterior fontanelle, Sparse scalp hair, Strabismus, Talipes, Telangiectasia
RG-div1	TUBA1C	0.335334884	1.27E-08	Cytoskeletal protein	BrainSpLMD|84790	
RG-div1	WDFY1	0.676604363	1.28E-08	Unclassified	BrainSpLMD|57590	
RG-div1	CBX6	0.433061061	1.28E-08	DNA binding protein	BrainSpLMD|23466	OMIM|617438
RG-div1	PSENEN	0.417852028	1.30E-08	Integral membrane protein	BrainSpMouseDev|42183	OMIM|607632;HPO|55851|Acne inversa, Autosomal dominant inheritance, Chronic furunculosis, Perifolliculitis, Recurrent cutaneous abscess formation
RG-div1	ZNF90	0.298563649	1.32E-08	Transcription regulatory protein		OMIM|603973
RG-div1	SFI1	0.475856656	1.33E-08	Unclassified	BrainSpLMD|9814;Eurexp|euxassay_000826|associated mesenchyme, axial skeleton, cartilaginous ring, cranium, dermis, detrusor muscle, duodenum, epithelium, gut, limb, liver, mesenchyme, pectoral girdle and thoracic body wall, pelvic girdle, perioptic mesenchyme, skeleton, stomach, visceral pericardium	OMIM|612765
RG-div1	CETN2	0.347169875	1.35E-08	Calcium binding protein	BrainSpLMD|1069;Eurexp|euxassay_015485|choroid plexus, lateral recess	OMIM|300006
RG-div1	TIMM10B	0.533485114	1.36E-08	Membrane transport protein	BrainSpLMD|26515	OMIM|607388
RG-div1	USP14	0.419158196	1.37E-08	Ubiquitin proteasome system protein	BrainSpLMD|9097;Eurexp|euxassay_002729|axial muscle, basal plate, dorsal root ganglion, marginal layer, trigeminal V	OMIM|607274
RG-div1	UBXN2A	0.398816182	1.46E-08	Unclassified	BrainSpLMD|165324	
RG-div1	RNF157	0.493831196	1.47E-08	Ubiquitin proteasome system protein		
RG-div1	RNU6.118P	0.266939499	1.48E-08			
RG-div1	HADHB	0.277733525	1.61E-08	Enzyme: Dehydrogenase	BrainSpLMD|3032	OMIM|143450;HPO|3032|Abnormality of the amniotic fluid, Autosomal recessive inheritance, Congestive heart failure, Dilated cardiomyopathy, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Generalized muscle weakness, Global developmental delay, Hydrops fetalis, Hyperammonemia, Hypoketotic hypoglycemia, Lactic acidosis, Myalgia, Myoglobinuria, Peripheral neuropathy, Prenatal maternal abnormality, Respiratory failure, Rhabdomyolysis, Small for gestational age
RG-div1	HMGN4	0.476208232	1.62E-08	Transcription regulatory protein	BrainSpLMD|10473	
RG-div1	NUDT15	0.545148393	1.65E-08	Enzyme: Hydrolase	BrainSpLMD|55270;Eurexp|euxassay_007037|embryo	OMIM|615792
RG-div1	GPATCH2	0.449831517	1.73E-08	RNA binding protein	BrainSpLMD|55105	OMIM|616836
RG-div1	OXCT1	0.713449159	1.75E-08	Enzyme: CoA transferase	BrainSpLMD|5019	OMIM|601424;HPO|5019|Autosomal recessive inheritance, Episodic ketoacidosis, Ketonuria, Tachypnea, Vomiting
RG-div1	TXNRD1	0.345114389	1.76E-08	Enzyme: Oxidoreductase	BrainSpLMD|7296;Eurexp|euxassay_018922|axial muscle, clavicle, dorsal root ganglion, incisor, liver, lung, mandible, mantle layer, maxilla, molar, neural retina, olfactory, pancreas, pharyngo-tympanic tube, rib, submandibular gland primordium, thymus primordium, thyroid, ventral grey horn, ventricular layer, vibrissa	OMIM|601112
RG-div1	NOL11	0.755003088	1.79E-08	Unclassified	BrainSpLMD|25926	OMIM|615366
RG-div1	GALM	0.54375793	1.80E-08	Enzyme: Epimerase	BrainSpLMD|130589;Eurexp|euxassay_000580|olfactory	OMIM|137030
RG-div1	MAPK8IP1	0.324512657	1.81E-08	Transcription factor	BrainSpLMD|9479;Eurexp|euxassay_011138|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|604641
RG-div1	AHCY	0.801749841	1.85E-08	Enzyme: Hydrolase	BrainSpLMD|191;Eurexp|euxassay_008402|embryo	OMIM|180960;HPO|191|Abnormal facial shape, Abnormality of the dentition, Autosomal recessive inheritance, Cardiomyopathy, Failure to thrive, Global developmental delay, Hypermethioninemia, Intellectual disability, Motor delay
RG-div1	NFATC3	0.508312506	1.94E-08	Transcription factor	BrainSpLMD|4775;BrainSpMouseDev|17788	OMIM|602698
RG-div1	YY1AP1	0.275234055	1.96E-08	Transcription regulatory protein;Unclassified	BrainSpLMD|55249	OMIM|607860;HPO|55249|Aortic regurgitation, Arterial stenosis, Autosomal recessive inheritance, Brachydactyly, Decreased body weight, Hypertension, Increased susceptibility to fractures, Intellectual disability, Intellectual disability, borderline, Recurrent fractures, Renal artery stenosis, Renovascular hypertension, Short palm, Specific learning disability, Syndactyly
RG-div1	UROD	0.268173536	2.06E-08	Enzyme: Decarboxylase	BrainSpLMD|7389;Eurexp|euxassay_009238|liver, marginal layer, ventricular layer	OMIM|613521;HPO|7389|Alopecia, Autosomal dominant inheritance, Cirrhosis, Cutaneous photosensitivity, Facial hypertrichosis, Fragile skin, Hemolytic anemia, Hepatocellular carcinoma, Hyperpigmentation in sun-exposed areas, Onycholysis, Scleroderma, Thin skin
RG-div1	NFATC2IP	0.806860348	2.08E-08	Unclassified	BrainSpLMD|84901	OMIM|614525
RG-div1	STX8	0.551792148	2.12E-08	Membrane transport protein	BrainSpLMD|9482	OMIM|604203
RG-div1	MRPL55	0.2967857	2.12E-08	Ribosomal subunit	BrainSpLMD|128308	OMIM|611859
RG-div1	FAM53B	0.796804441	2.13E-08	Unclassified	BrainSpLMD|9679	OMIM|617289
RG-div1	PLEKHG4B	0.402523936	2.23E-08	Guanine nucleotide exchange factor	BrainSpLMD|153478	
RG-div1	STK35	0.321986948	2.24E-08	Serine/threonine kinase	BrainSpLMD|140901;Eurexp|euxassay_012066|Meckel's cartilage, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, otic capsule, pelvic girdle, scapula, temporal bone, tibia, turbinate	OMIM|609370
RG-div1	RMDN1	0.730009133	2.25E-08	Unclassified	BrainSpLMD|51115	OMIM|611871
RG-div1	TMCO3	1.004361216	2.35E-08	Integral membrane protein	BrainSpLMD|55002;Eurexp|euxassay_002820|basal plate, nucleus pulposus, ventral grey horn, ventricular layer	OMIM|617134
RG-div1	METTL15	0.684937578	2.35E-08	Enzyme: Methyltransferase	BrainSpLMD|196074	
RG-div1	ICE2	0.57611933	2.46E-08	DNA binding protein	BrainSpLMD|79664	OMIM|610835
RG-div1	NIF3L1	0.550011671	2.47E-08	Transcription regulatory protein	BrainSpLMD|60491	OMIM|605778
RG-div1	SRP68	0.606500422	2.49E-08	RNA binding protein	BrainSpLMD|6730	OMIM|604858
RG-div1	TMEM254	0.381782089	2.51E-08	Integral membrane protein	BrainSpLMD|80195;Eurexp|euxassay_010761|bladder, choroid plexus, dorsal root ganglion, ear, floor plate, floorplate, incisor, lung, metanephros, midgut, molar, oesophagus, olfactory, pancreas, stomach, submandibular gland primordium, thymus primordium, thyroid, urethra, vibrissa	
RG-div1	RNF217	0.625097435	2.52E-08	Integral membrane protein	BrainSpLMD|154214;Eurexp|euxassay_010804|adrenal gland, mantle layer, vertebral axis muscle system	
RG-div1	DDX19B	0.439317047	2.52E-08	ATPase	BrainSpLMD|11269;Eurexp|euxassay_002562|orbito-sphenoid, turbinate	OMIM|605812
RG-div1	EFR3A	0.252243092	2.55E-08	Unclassified		SFARI||Autism, 3 - Suggestive evidence;OMIM|611798
RG-div1	ELK4	0.427223756	2.57E-08	Transcription factor	BrainSpLMD|2005;BrainSpMouseDev|13492	OMIM|600246;COSMIC||prostate
RG-div1	GTF2H2C	0.354053369	2.63E-08	Unclassified		
RG-div1	RECQL	0.924185137	2.66E-08	DNA helicase	BrainSpLMD|5965	OMIM|600537
RG-div1	CPSF7	0.594682127	2.67E-08	Unclassified	BrainSpLMD|79869;Eurexp|euxassay_007331|embryo	
RG-div1	ALYREF	0.332207617	2.71E-08	Chaperone	BrainSpLMD|10189	OMIM|604171
RG-div1	TLN2	0.553433777	2.76E-08	Cytoskeletal associated protein	BrainSpLMD|83660	OMIM|607349
RG-div1	SRCAP	0.42281878	2.77E-08	Transcription regulatory protein	BrainSpLMD|10847	SFARI||Autism, 2 - Strong candidate;OMIM|611421;HPO|10847|Abnormality of the soft palate, Autosomal dominant inheritance, Brachydactyly, Broad columella, Broad thumb, Bulbous nose, Camptodactyly of finger, Celiac disease, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Congenital pseudoarthrosis of the clavicle, Constipation, Deeply set eye, Delayed skeletal maturation, Downturned corners of mouth, Enlarged joints, Expressive language delay, Feeding difficulties in infancy, Generalized hirsutism, Global developmental delay, High pitched voice, Hirsutism, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Joint stiffness, Long eyelashes, Low posterior hairline, Malabsorption, Nasal speech, Neurological speech impairment, Posteriorly rotated ears, Prominent nose, Recurrent otitis media, Short clavicles, Short neck, Short philtrum, Short stature, Smooth philtrum, Thin vermilion border, Triangular face, Underdeveloped nasal alae, Wide mouth, Wide nasal bridge
RG-div1	EMC1	0.412446185	2.84E-08	Unclassified	BrainSpLMD|23065	OMIM|616846;HPO|23065|Anal atresia, Astigmatism, Autosomal recessive inheritance, Cortical visual impairment, Esotropia, Generalized hypotonia, Hypermetropia, Hypoplasia of the corpus callosum, Intellectual disability, Laryngotracheomalacia, Myopia, Optic atrophy, Progressive
RG-div1	VEGFB	0.670576707	2.94E-08	Growth factor	BrainSpLMD|7423;BrainSpMouseDev|22097	OMIM|601398
RG-div1	SAV1	0.454157148	2.96E-08	Transcription regulatory protein	BrainSpLMD|60485	OMIM|607203
RG-div1	FEZF2	0.311904888	3.01E-08	Transcription factor	BrainSpLMD|55079;Eurexp|euxassay_009770|mantle layer, ventricular layer, vomeronasal organ;BrainSpMouseDev|34002	SFARI||Autism, 4 - Minimal evidence;OMIM|607414
RG-div1	TIMM21	0.433585921	3.07E-08	Unclassified	BrainSpLMD|29090	OMIM|615180
RG-div1	DLAT	0.308085962	3.07E-08	Enzyme: Acyltransferase	BrainSpLMD|1737	OMIM|608770;HPO|1737|Ataxia, Autosomal recessive inheritance, Choreoathetosis, Decreased activity of the pyruvate dehydrogenase complex, Delayed gross motor development, Drooling, Global developmental delay, Hyperreflexia, Infantile onset, Intellectual disability, mild, Jerky head movements, Lactic acidosis, Microcephaly, Neonatal hypotonia, Nystagmus, Oculomotor apraxia, Paroxysmal dystonia, Poor speech, Ptosis, Very rare
RG-div1	ARNT2	0.39193445	3.15E-08	Transcription factor	BrainSpLMD|9915;Eurexp|euxassay_006289|brain, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, spinal cord, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|11651	SFARI||Autism, 4 - Minimal evidence;OMIM|606036;HPO|9915|Agenesis of corpus callosum, Anterior pituitary hypoplasia, Autosomal recessive inheritance, Cleft palate, Cryptorchidism, Deeply set eye, Delayed myelination, Diabetes insipidus, Gastroesophageal reflux, Global developmental delay, Growth hormone deficiency, Hemiplegia/hemiparesis, Hip dislocation, Hydronephrosis, Hypernatremia, Hypoplasia of penis, Hypoplasia of the corpus callosum, Microcephaly, Neurogenic bladder, Nystagmus, Pituitary hypothyroidism, Postnatal microcephaly, Prominent forehead, Retrognathia, Seizures, Septo-optic dysplasia, Short stature, Spasticity, Strabismus, Vesicoureteral reflux, Visual impairment
RG-div1	GABPB2	0.474322396	3.25E-08	Unclassified	BrainSpLMD|126626	
RG-div1	ANXA6	0.442633809	3.41E-08	Calcium binding protein	BrainSpLMD|309	OMIM|114070
RG-div1	PTPRG	0.605682721	3.44E-08	Receptor tyrosine phosphatase	BrainSpLMD|5793	OMIM|176886
RG-div1	RHBDD2	0.30344274	3.44E-08	Integral membrane protein	BrainSpLMD|57414	OMIM|615203
RG-div1	VOPP1	0.291843561	3.48E-08	Transcription regulatory protein	BrainSpLMD|81552;Eurexp|euxassay_012572|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611915
RG-div1	KIAA1328	0.261572835	3.62E-08	Unclassified	BrainSpLMD|57536	OMIM|616480
RG-div1	RP3.415N12.1	0.383308449	3.64E-08			
RG-div1	SMAD4	0.341451263	3.70E-08	Transcription factor	BrainSpLMD|4089;Eurexp|euxassay_005333|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, orbito-sphenoid, trigeminal V, vagus X;BrainSpMouseDev|16898	SFARI||Autism, 3 - Suggestive evidence;OMIM|600993;COSMIC||colorectal, pancreatic, small intestine, gastrointestinal polyp;HPO|4089|2-3 toe syndactyly, Abdominal pain, Abnormality of epiphysis morphology, Abnormality of the cardiac septa, Abnormality of the metaphysis, Abnormality of the pubic bone, Abnormality of the ribs, Abnormality of the voice, Anemia, Aortic valve stenosis, Autism, Autosomal dominant inheritance, Blepharophimosis, Brachydactyly, Broad ribs, Camptodactyly, Cavernous hemangioma, Cholecystitis, Clinodactyly, Coarctation of aorta, Cone-shaped epiphysis, Craniofacial hyperostosis, Cryptorchidism, Deeply set eye, EMG abnormality, Enlarged vertebral pedicles, Epistaxis, Failure to thrive, Fine hair, Generalized muscle hypertrophy, Global developmental delay, Hamartomatous polyposis, Hearing impairment, Hematochezia, High-grade hypermetropia, Hypermetropia, Hypertelorism, Hypertension, Hypoalbuminemia, Hypokalemia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Intellectual disability, Intrauterine growth retardation, Joint stiffness, Large iliac wings, Laryngotracheal stenosis, Limitation of joint mobility, Low-set ears, Malar flattening, Mandibular prognathia, Microcephaly, Microcytic anemia, Microtia, Midface retrusion, Migraine, Multiple gastric polyps, Narrow mouth, Neoplasm of the pancreas, Overlapping toe, Patent ductus arteriosus, Pericardial effusion, Platyspondyly, Portal hypertension, Prominent nasal bridge, Ptosis, Radial deviation of finger, Seizures, Severe short stature, Short finger, Short long bone, Short neck, Short palm, Short palpebral fissure, Short philtrum, Short stature, Short toe, Skeletal muscle hypertrophy, Somatic mutation, Sparse hair, Specific learning disability, Spontaneous hematomas, Stiff skin, Strabismus, Telangiectasia of the skin, Thick eyebrow, Thickened calvaria, Thickened skin, Thin upper lip vermilion, Thin vermilion border, Vertebral fusion, Visceral angiomatosis
RG-div1	SUDS3	0.389171009	3.81E-08	Transcription regulatory protein	BrainSpLMD|64426	OMIM|608250
RG-div1	LONRF1	0.312500679	3.82E-08	Ubiquitin proteasome system protein	BrainSpLMD|91694	
RG-div1	EEF1B2P3	0.67723442	3.87E-08			
RG-div1	ZIK1	0.433865863	3.94E-08	Transcription regulatory protein	Eurexp|euxassay_005254|lateral wall, medulla oblongata, metencephalon, thalamus	
RG-div1	SACM1L	0.628257264	4.03E-08	Lipid phosphatase	BrainSpLMD|22908	OMIM|606569
RG-div1	ING5	0.511625987	4.17E-08	Transcription regulatory protein	BrainSpLMD|84289	OMIM|608525
RG-div1	ATXN2	0.477979204	4.20E-08	RNA binding protein	BrainSpLMD|6311;Eurexp|euxassay_013424|dorsal root ganglion, facial VII, glossopharyngeal IX, lens, neural retina, submandibular gland primordium, trigeminal V, ventral grey horn	OMIM|601517;HPO|6311|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Bradykinesia, Dementia, Depressivity, Dilated fourth ventricle, Distal amyotrophy, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Dysphagia, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Gaze-evoked nystagmus, Generalized hypotonia, Generalized muscle weakness, Genetic anticipation, Hyporeflexia, Impaired horizontal smooth pursuit, Impaired vibratory sensation, Limb ataxia, Muscle cramps, Myoclonus, Neurodegeneration, Oculomotor apraxia, Olivopontocerebellar atrophy, Ophthalmoplegia, Pain, Paralysis, Postural instability, Postural tremor, Progressive cerebellar ataxia, Respiratory failure, Rigidity, Rod-cone dystrophy, Skeletal muscle atrophy, Slow saccadic eye movements, Spasticity, Spinocerebellar tract degeneration, Urinary bladder sphincter dysfunction, Xerostomia
RG-div1	CMSS1	0.301573055	4.20E-08	Unclassified	BrainSpLMD|84319	
RG-div1	TTC7B	0.502740453	4.28E-08	Unclassified		
RG-div1	BTG2	0.387275267	4.35E-08	Cell cycle control protein	BrainSpLMD|7832;Eurexp|euxassay_000263|alar plate, diencephalon, epithelium, hindbrain, liver, lung, metencephalon, midbrain, neural retina, oesophagus, oral epithelium, spinal cord, stomach, telencephalon, ventricular layer	OMIM|601597
RG-div1	TMEM65	0.607642207	4.47E-08	Integral membrane protein	BrainSpLMD|157378	OMIM|616609
RG-div1	HN1L	0.433683133	4.51E-08			
RG-div1	TMUB2	0.39722739	4.65E-08	Unclassified	BrainSpLMD|79089;Eurexp|euxassay_011468|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII	
RG-div1	HNRNPRP1	0.299575258	4.76E-08			
RG-div1	PSMA2	0.365688472	4.90E-08	Ubiquitin proteasome system protein	BrainSpLMD|5683	OMIM|176842
RG-div1	SIMC1	0.49727098	4.95E-08	Unclassified	BrainSpLMD|375484	
RG-div1	ARID5B	0.360022859	4.98E-08	DNA binding protein	Eurexp|euxassay_016566|mantle layer;BrainSpMouseDev|47212	OMIM|608538
RG-div1	CD2AP	0.641984753	5.03E-08	Adapter molecule	BrainSpLMD|23607;Eurexp|euxassay_018806|mandible, maxilla, submandibular gland primordium, vibrissa	OMIM|604241;HPO|23607|Focal segmental glomerulosclerosis, Hematuria, Hypertension, Proteinuria, Renal insufficiency
RG-div1	SEC23A	0.399029052	5.06E-08	Transport/cargo protein	BrainSpLMD|10484;Eurexp|euxassay_010377|clavicle, mandible, maxilla, orbito-sphenoid, rib, turbinate bones	OMIM|610511;HPO|10484|Anteverted nares, Autosomal recessive inheritance, Brittle hair, Capillary hemangiomas, Carious teeth, Coarse hair, Cryptorchidism, Decreased skull ossification, Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Forehead hyperpigmentation, Frontal bossing, High iliac wings, Hyperpigmentation of the skin, Hypertelorism, Hypoplasia of teeth, Hypoplasia of the maxilla, Joint laxity, Large fontanelles, Long philtrum, Macrocephaly, Malar flattening, Microdontia, Midface retrusion, Narrow chest, Narrow iliac wings, Pes planus, Posterior Y-sutural cataract, Posterior wedging of vertebral bodies, Premature loss of teeth, Prominent nasal bridge, Prominent supraorbital ridges, Punctate cataract, Scoliosis, Short stature, Skeletal dysplasia, Smooth philtrum, Sparse hair, Sutural cataract, Thin upper lip vermilion, Thin vermilion border, Wide anterior fontanel, Wide mouth, Wide nasal bridge, Wide nose
RG-div1	KCNT2	0.313923203	5.10E-08	Ion channel	BrainSpLMD|343450	OMIM|610044
RG-div1	TTC9C	0.384368684	5.13E-08	Unclassified	BrainSpLMD|283237	
RG-div1	DHRSX	0.855805231	5.19E-08	Enzyme: Oxidoreductase		
RG-div1	MIPOL1	0.469952353	5.20E-08	Unclassified	BrainSpLMD|145282;Eurexp|euxassay_014095|floorplate	OMIM|606850
RG-div1	ATG7	0.359253126	5.22E-08	Unclassified	BrainSpLMD|10533	SFARI||Autism, 5 - Hypothesized but untested;OMIM|608760
RG-div1	FKBP2	0.695826583	5.46E-08	Enzyme: Isomerase	BrainSpLMD|2286	OMIM|186946
RG-div1	MBD1	0.520125893	5.49E-08	Transcription regulatory protein	BrainSpLMD|4152	SFARI||Autism, 4 - Minimal evidence;OMIM|156535
RG-div1	LRPAP1	0.528732674	6.00E-08	Chaperone	BrainSpLMD|4043;Eurexp|euxassay_013971|calyces, choroid invagination, choroid plexus, floor plate, floorplate, mantle layer, marginal layer, olfactory, roof plate, stomach	OMIM|104225;HPO|4043|Autosomal recessive inheritance, Increased axial globe length, Reduced visual acuity, Severe Myopia, Visual impairment
RG-div1	POLR2L	0.271342923	6.02E-08	RNA polymerase	BrainSpLMD|5441;Eurexp|euxassay_019574|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, liver, lung, midgut, nucleus pulposus, oesophagus, pancreas, stomach, submandibular gland primordium, testis, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|601189
RG-div1	PSMC5	0.342364521	6.14E-08	Ubiquitin proteasome system protein	BrainSpLMD|5705	OMIM|601681
RG-div1	COX17	0.314091863	6.87E-08	Chaperone		OMIM|604813
RG-div1	DSE	0.537868036	6.91E-08	Unclassified	BrainSpLMD|29940	OMIM|605942;HPO|29940|Adducted thumb, Arachnodactyly, Autosomal recessive inheritance, Blue sclerae, Brachycephaly, Delayed gross motor development, Dental crowding, Downslanted palpebral fissures, Frontal bossing, Generalized muscle weakness, High palate, Inguinal hernia, Patent foramen ovale, Protruding ear, Talipes equinovarus, Telecanthus
RG-div1	SIKE1	0.318008555	7.01E-08	Unclassified	BrainSpLMD|80143;Eurexp|euxassay_012757|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, ventricle, vestibulocochlear VIII	OMIM|611656
RG-div1	SLC35D1	0.572165259	7.23E-08	Membrane transport protein	BrainSpLMD|23169	OMIM|610804;HPO|23169|Abnormality of the fingernails, Advanced ossification of carpal bones, Advanced tarsal ossification, Anterior rib cupping, Autosomal recessive inheritance, Brachydactyly, Cleft palate, Cryptorchidism, Disproportionate short-limb short stature, Dolichocephaly, Dumbbell-shaped long bone, Fibular hypoplasia, Flat acetabular roof, Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic toenails, Hypoplastic vertebral bodies, Increased fibular diameter, Lateral clavicle hook, Lymphedema, Macrocephaly, Malar flattening, Metaphyseal irregularity, Micromelia, Midface retrusion, Narrow chest, Ovoid vertebral bodies, Polyhydramnios, Short neck, Short ribs, Snail-like ilia, Stillbirth
RG-div1	DLEU1	0.636649072	7.30E-08	Unclassified	BrainSpLMD|10301	OMIM|605765
RG-div1	AC011043.1	0.578255005	7.33E-08			
RG-div1	XYLT2	0.364859633	7.40E-08	Enzyme: Transferase	BrainSpLMD|64132;Eurexp|euxassay_005092|dorsal root ganglion, trigeminal V, ventricular layer	OMIM|608125;HPO|64132|Abnormality of the eyebrow, Abnormality of the intervertebral disk, Amblyopia, Aplasia/Hypoplasia of the lens, Atrial septal defect, Autosomal recessive inheritance, Cataract, Disproportionate short-trunk short stature, Facial hypotonia, Hypertelorism, Iris hypopigmentation, Long fingers, Long toe, Low posterior hairline, Low-set ears, Microphthalmia, Mitral valve prolapse, Muscle weakness, Nystagmus, Osteopenia, Osteoporosis, Pes planus, Platyspondyly, Posteriorly rotated ears, Retinal detachment, Sensorineural hearing impairment, Shield chest, Short neck, Thoracic kyphosis, Ventricular septal defect, Vertebral compression fractures, Visual loss, Webbed neck
RG-div1	SSNA1	0.555607515	7.41E-08	Unclassified	BrainSpLMD|8636	OMIM|610882
RG-div1	PRKRIR	0.62097816	7.43E-08			
RG-div1	ACAD9	0.46540172	7.66E-08	Enzyme: Dehydrogenase	BrainSpLMD|28976	OMIM|611103;HPO|28976|Autosomal recessive inheritance, Cerebral edema, Congestive heart failure, Dilated cardiomyopathy, Elevated hepatic transaminases, Encephalopathy, Exercise intolerance, Generalized hypotonia, Hepatic failure, Hypertrophic cardiomyopathy, Hypoglycemia, Lactic acidosis, Microvesicular hepatic steatosis, Muscle weakness, Stroke, Thrombocytopenia
RG-div1	FAM91A1	0.335093755	7.77E-08	Unclassified	BrainSpLMD|157769;Eurexp|euxassay_000052|Meckel's cartilage, carpus, clavicle, exoccipital bone, femur, fibula, humerus, intervertebral disc, mesenchyme, metatarsus, pelvic girdle, rib, scapula, tibia, vertebra, vertebral cartilage condensation	
RG-div1	ZNF496	0.698944871	8.17E-08	Transcription regulatory protein	BrainSpLMD|84838	OMIM|613911
RG-div1	GSTCD	0.263944525	8.32E-08	Unclassified	BrainSpLMD|79807	OMIM|615912
RG-div1	ITGB1P1	0.496772156	8.49E-08			
RG-div1	CDK10	0.570285299	8.51E-08	Serine/threonine kinase	BrainSpLMD|8558	OMIM|603464
RG-div1	GPANK1	0.485850281	8.57E-08	Unclassified	BrainSpLMD|7918	OMIM|142610
RG-div1	HSP90AA1	0.256546431	8.62E-08	Chaperone	BrainSpLMD|3320;Eurexp|euxassay_010007|cervical, cervico-thoracic, choroid plexus, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, mandible, mantle layer, midgut, molar, neural retina, olfactory, pancreas, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, vagus X, ventral grey horn, ventricular layer, vomeronasal organ	OMIM|140571;COSMIC||NHL
RG-div1	FER	0.312435634	8.92E-08	Tyrosine kinase	BrainSpLMD|2241	SFARI||Autism, No category;OMIM|176942
RG-div1	ZRANB3	0.809867202	8.94E-08	Unclassified	BrainSpLMD|84083	OMIM|615655
RG-div1	RAD51C	0.289790867	8.97E-08	DNA repair protein	BrainSpLMD|5889	OMIM|602774;HPO|5889|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of the fallopian tube, Absent thumb, Almond-shaped palpebral fissure, Anal atresia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Breast carcinoma, Cryptorchidism, Esophageal atresia, External genital hypoplasia, Global developmental delay, Hydronephrosis, Hypopigmented skin patches, Hypoplasia of the radius, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Ovarian neoplasm, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Rectal atresia, Renal cyst, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Stage 5 chronic kidney disease, Thrombocytopenia, Tracheoesophageal fistula
RG-div1	PUS7	0.71970664	8.97E-08	Enzyme: Lyase	BrainSpLMD|54517	OMIM|616261
RG-div1	SRSF1	0.401614821	8.99E-08	RNA binding protein	BrainSpLMD|6426	OMIM|600812
RG-div1	ZNF566	0.476413372	9.10E-08	Transcription regulatory protein	BrainSpLMD|84924	
RG-div1	FLRT3	0.264363245	9.26E-08	Adhesion molecule	BrainSpLMD|23767;Eurexp|euxassay_006295|axial skeleton, bladder, eyelid, incisor, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, molar, pharyngo-tympanic tube, physiological umbilical hernia, pituitary, submandibular gland primordium, ventricular layer, vibrissa	OMIM|604808;HPO|23767|Abnormality of the voice, Anosmia, Anterior hypopituitarism, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Delayed puberty, Erectile abnormalities, Gynecomastia, Hypogonadotrophic hypogonadism, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Primary amenorrhea, Reduced bone mineral density, Sparse axillary hair, Sparse pubic hair
RG-div1	CHURC1	0.31175767	9.78E-08	Transcription regulatory protein	BrainSpLMD|91612;Eurexp|euxassay_011573|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|84269	OMIM|608577
RG-div1	LYPLA1	0.26877655	1.03E-07	Enzyme: Phospholipase	BrainSpLMD|10434	OMIM|605599
RG-div1	DPH3	0.422492835	1.04E-07	Unclassified	BrainSpLMD|285381	OMIM|608959
RG-div1	RPSAP58	0.386879252	1.05E-07		BrainSpLMD|388524	
RG-div1	VPS26A	0.259553834	1.07E-07	Transport/cargo protein	BrainSpLMD|9559	OMIM|605506
RG-div1	SF3A3	0.251899245	1.08E-07	RNA binding protein	BrainSpLMD|10946	OMIM|605596
RG-div1	SDHB	0.289256171	1.09E-07	Enzyme: Dehydrogenase	BrainSpLMD|6390;Eurexp|euxassay_018430|embryo	OMIM|185470;COSMIC||paraganglioma, pheochromocytoma;HPO|6390|Abdominal pain, Abnormality of the penis, Adenoma sebaceum, Adrenal pheochromocytoma, Adult onset, Ataxia, Autosomal dominant inheritance, Breast carcinoma, Cafe-au-lait spot, Cavernous hemangioma, Cerebral hemorrhage, Chemodectoma, Cognitive impairment, Colorectal polyposis, Congenital cataract, Congestive heart failure, Conjunctival hamartoma, Constipation, Cranial nerve paralysis, Dysphagia, Elevated urinary catecholamines, Elevated urinary norepinephrine, Endometrial carcinoma, Episodic hypertension, Episodic paroxysmal anxiety, Extraadrenal pheochromocytoma, Fatigue, Furrowed tongue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Generalized hyperkeratosis, Global developmental delay, Glomus jugular tumor, Goiter, Hamartomatous polyposis, Hearing impairment, Hemangioma, Hypercalcemia, Hyperhidrosis, Hyperpigmentation of the skin, Hypertension associated with pheochromocytoma, Hypertensive retinopathy, Incomplete penetrance, Intellectual disability, Intestinal obstruction, Large hands, Lipoma, Macrocephaly, Macroglossia, Macule, Melanocytic nevus, Meningioma, Mucosal telangiectasiae, Nausea and vomiting, Neoplasm, Neoplasm of the gastrointestinal tract, Neoplasm of the stomach, Neurofibromas, Palmoplantar keratoderma, Palpitations, Papillary thyroid carcinoma, Papilloma, Papule, Paraganglioma, Pheochromocytoma, Positive regitine blocking test, Proteinuria, Pulsatile tinnitus, Recurrent paroxysmal headache, Renal artery stenosis, Renal cell carcinoma, Sarcoma, Sporadic, Subcutaneous nodule, Tachycardia, Tinnitus, Urticaria, Uterine leiomyoma, Weight loss
RG-div1	FN3KRP	0.382355477	1.10E-07	Enzyme: Phosphotransferase	BrainSpLMD|79672;Eurexp|euxassay_012737|liver	OMIM|611683
RG-div1	POLK	0.351778883	1.12E-07	DNA binding protein	BrainSpLMD|51426	OMIM|605650
RG-div1	RP11.119F7.5	0.315512721	1.13E-07			
RG-div1	ZNF268	0.26387072	1.15E-07	DNA binding protein		OMIM|604753
RG-div1	UBN1	0.731232694	1.17E-07	Transcription regulatory protein	BrainSpLMD|29855	OMIM|609771
RG-div1	USP2	0.764064916	1.18E-07	Ubiquitin proteasome system protein	BrainSpLMD|9099	OMIM|604725
RG-div1	RCC2	0.268769427	1.18E-07	Cell cycle control protein	BrainSpLMD|55920;Eurexp|euxassay_006452|cortex, hindgut, incisor, left, left lung, marginal layer, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pharyngo-tympanic tube, rectum, right, right lung, stomach, submandibular gland primordium, testis, thymus primordium, trachea, urethra, ventricular layer, vibrissa	OMIM|609587
RG-div1	MZT2A	0.807428345	1.19E-07	Unclassified	BrainSpLMD|653784	OMIM|613449
RG-div1	ADAM17	0.361682519	1.21E-07	Metallo protease	BrainSpLMD|6868;BrainSpMouseDev|11279	OMIM|603639;HPO|6868|Autosomal recessive inheritance, Blepharitis, Eosinophilia, Erythema, Erythroderma, Hematochezia, Paronychia, Pustule, Thick nail, Villous atrophy
RG-div1	NPHP3	0.332431413	1.22E-07	Adapter molecule	BrainSpLMD|27031	OMIM|608002;HPO|27031|Abnormality of retinal pigmentation, Aortic valve stenosis, Asplenia, Atrial septal defect, Autosomal recessive inheritance, Bile duct proliferation, Biliary cirrhosis, Cholestasis, Cirrhosis, Dandy-Walker malformation, Enlarged kidney, Enuresis, Global developmental delay, Hepatic cysts, Hepatic fibrosis, Hepatomegaly, Hypertension, Intestinal malrotation, Nephronophthisis, Oligohydramnios, Pancreatic cysts, Pancreatic fibrosis, Patent ductus arteriosus, Polycystic kidney dysplasia, Polydipsia, Polysplenia, Polyuria, Potter facies, Premature ovarian insufficiency, Progressive visual loss, Pulmonary hypoplasia, Renal corticomedullary cysts, Renal dysplasia, Renal insufficiency, Retinal dystrophy, Short stature, Stage 5 chronic kidney disease, Tubular atrophy, Tubulointerstitial fibrosis, Visual impairment
RG-div1	CHD1L	0.44007591	1.30E-07	DNA binding protein	BrainSpLMD|9557	OMIM|613039
RG-div1	ZNF521	0.285812055	1.34E-07	Transcription regulatory protein	BrainSpLMD|25925;BrainSpMouseDev|86218	OMIM|610974;COSMIC||ALL
RG-div1	FBXL3	0.743200496	1.37E-07	Ubiquitin proteasome system protein	BrainSpLMD|26224	OMIM|605653
RG-div1	SDE2	0.354467026	1.43E-07	Unclassified	BrainSpLMD|163859;Eurexp|euxassay_003360|submandibular gland primordium, thymus primordium	
RG-div1	EEF1E1	0.389608402	1.45E-07	Translation regulatory protein	BrainSpLMD|9521	OMIM|609206
RG-div1	RP4.605O3.4	0.495525725	1.45E-07			
RG-div1	SMIM7	0.441381252	1.48E-07	Unclassified	BrainSpLMD|79086	
RG-div1	PMP22	0.763509757	1.48E-07	Integral membrane protein	BrainSpLMD|5376	OMIM|601097;HPO|5376|Abnormality of the immune system, Acute demyelinating polyneuropathy, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Childhood onset, Cold-induced muscle cramps, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Gait ataxia, Gait disturbance, Generalized hypotonia, Hammertoe, Hearing impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Increased CSF protein, Infantile onset, Insidious onset, Juvenile onset, Kyphoscoliosis, Motor delay, Muscle weakness, Myelin outfoldings, Onion bulb formation, Paresthesia, Pes cavus, Scoliosis, Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Sensory ataxia, Slow progression, Split hand, Steppage gait, Talipes calcaneovalgus, Ulnar claw, Upper limb postural tremor, Variable expressivity, Vocal cord paralysis
RG-div1	FNTB	0.813992681	1.51E-07	Enzyme: Prenyltransferase;Unclassified	BrainSpLMD|2342	OMIM|134636
RG-div1	APTX	0.488628076	1.52E-07	DNA repair protein	BrainSpLMD|54840	OMIM|606350;HPO|54840|Adult onset, Areflexia, Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cognitive impairment, Decreased number of large peripheral myelinated nerve fibers, Dementia, Distal amyotrophy, Distal sensory impairment, Dysarthria, Dystonia, Gait ataxia, Gait disturbance, Gaze-evoked nystagmus, Hypercholesterolemia, Hypoalbuminemia, Hypometric saccades, Hyporeflexia, Juvenile onset, Limb ataxia, Medial flaring of the eyebrow, Muscle weakness, Oculomotor apraxia, Peripheral axonal degeneration, Peripheral neuropathy, Pes cavus, Progressive external ophthalmoplegia, Scoliosis, Tremor, Truncal ataxia
RG-div1	PAN2	0.819148893	1.54E-07	Ubiquitin proteasome system protein	BrainSpLMD|9924	OMIM|617447
RG-div1	TRIM28	0.264022989	1.56E-07	Transcription regulatory protein	BrainSpLMD|10155;BrainSpMouseDev|21608	OMIM|601742
RG-div1	RBM14	0.400711651	1.59E-07	RNA binding protein	BrainSpLMD|10432	OMIM|612409
RG-div1	METTL10	0.337933353	1.66E-07			
RG-div1	MAGI3	0.340326549	1.77E-07	Unclassified	BrainSpLMD|260425;Eurexp|euxassay_011395|axial skeleton, facial VII, femur, fibula, glossopharyngeal IX, left lung, olfactory, rib, right lung, tibia, trigeminal V, vagus X, vomeronasal organ	OMIM|615943
RG-div1	HRSP12	0.730909259	1.81E-07			
RG-div1	POLR3F	0.468963956	1.90E-07	RNA polymerase	BrainSpLMD|10621;Eurexp|euxassay_003491|testis	OMIM|617455
RG-div1	KIAA1147	0.401644312	1.90E-07	Unclassified	BrainSpLMD|57189;Eurexp|euxassay_008076|mantle layer, ventricular layer	
RG-div1	NUMA1	0.286655356	1.91E-07	Structural protein	BrainSpLMD|4926;Eurexp|euxassay_010729|olfactory lobe, ventricular layer	OMIM|164009;COSMIC||APL;HPO|4926|Abnormality of cells of the granulocytic lineage, Acute promyelocytic leukemia, Somatic mutation
RG-div1	EIF4H	0.339928301	1.93E-07	Translation regulatory protein	BrainSpLMD|7458	OMIM|603431
RG-div1	RP11.798M19.6	0.435396968	1.97E-07			
RG-div1	NUPL2	0.265682986	2.01E-07	Transport/cargo protein	BrainSpLMD|11097	
RG-div1	POLI	0.302591153	2.04E-07	DNA polymerase	BrainSpLMD|11201	OMIM|605252
RG-div1	SNRPA	0.329995989	2.06E-07	RNA binding protein	BrainSpLMD|6626;Eurexp|euxassay_005694|embryo	OMIM|182285
RG-div1	AKIRIN2	0.296708387	2.09E-07	Unclassified	BrainSpLMD|55122	OMIM|615165
RG-div1	HMGB1P1	0.401937064	2.10E-07	Transcription regulatory protein		
RG-div1	KCTD3	0.42081575	2.11E-07	Ion channel	BrainSpLMD|51133	OMIM|613272
RG-div1	PDHB	0.26481672	2.23E-07	Enzyme: Decarboxylase	BrainSpLMD|5162	OMIM|179060;HPO|5162|Autosomal recessive inheritance, Generalized hypotonia, Lactic acidosis
RG-div1	EFTUD1	0.281774828	2.24E-07			
RG-div1	IGF2BP1	0.347029715	2.24E-07	RNA binding protein	BrainSpLMD|10642;Eurexp|euxassay_000116|capsule, cortex, lens, mesenchyme, metanephros, physiological umbilical hernia, retina	OMIM|608288
RG-div1	RP11.473N11.2	0.339175722	2.25E-07			
RG-div1	ZYX	0.823359454	2.30E-07	Adhesion molecule	BrainSpLMD|7791;Eurexp|euxassay_010280|lobe, mesenchyme, skeletal muscle, vertebral axis muscle system	OMIM|602002
RG-div1	B3GALNT1	0.452552754	2.40E-07	Enzyme: Galactosyltransferase	BrainSpLMD|8706;Eurexp|euxassay_003465|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn	OMIM|603094
RG-div1	SLC25A11	0.416523699	2.41E-07	Membrane transport protein	BrainSpLMD|8402	OMIM|604165
RG-div1	DRG1	0.303774016	2.47E-07	Unclassified	BrainSpLMD|4733;Eurexp|euxassay_019652|adrenal gland, dorsal root ganglion, liver, metanephros, testis, thymus primordium, ventricular layer, vibrissa;BrainSpMouseDev|13273	OMIM|603952
RG-div1	ZNF800	0.73030808	2.52E-07	DNA binding protein	BrainSpLMD|168850	
RG-div1	MLEC	0.307033355	2.53E-07	Unclassified	BrainSpLMD|9761;Eurexp|euxassay_016414|clavicle, lung, mandible, maxilla, orbito-sphenoid, submandibular gland primordium, temporal bone, turbinate	OMIM|613802
RG-div1	WDR17	0.497428338	2.55E-07	Unclassified	BrainSpLMD|116966;Eurexp|euxassay_005530|brain, olfactory, spinal cord	OMIM|609005
RG-div1	RAVER2	1.055947343	2.62E-07	Unclassified	BrainSpLMD|55225	OMIM|609953
RG-div1	TBCD	0.270136973	2.72E-07	Chaperone	BrainSpLMD|6904	OMIM|604649;HPO|6904|Arthrogryposis multiplex congenita, Atrophy/Degeneration affecting the brainstem, Autosomal recessive inheritance, CNS hypomyelination, Cerebellar atrophy, Constipation, Developmental regression, Diffuse cerebral atrophy, Encephalopathy, Facial hypotonia, Feeding difficulties, Gliosis, Global developmental delay, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Micrognathia, Muscle weakness, Neuronal loss in central nervous system, Optic atrophy, Postnatal microcephaly, Scoliosis, Seizures, Severe muscular hypotonia, Skeletal muscle atrophy, Sparse eyebrow, Spastic tetraplegia, Tongue fasciculations, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Widely spaced teeth
RG-div1	LSM1	0.341933756	2.75E-07	RNA binding protein	BrainSpLMD|27257	OMIM|607281
RG-div1	RHOC	0.493800609	2.80E-07	GTPase	BrainSpLMD|389	OMIM|165380
RG-div1	C6orf203	0.304829332	2.84E-07	Unclassified	BrainSpLMD|51250	
RG-div1	SRP19	0.44560004	2.87E-07	RNA binding protein	BrainSpLMD|6728	OMIM|182175
RG-div1	SMNDC1	0.550329234	2.87E-07	Structural protein	BrainSpLMD|10285;Eurexp|euxassay_012315|olfactory, thymus primordium, ventricular layer	OMIM|603519
RG-div1	FAM118A	0.685169444	2.92E-07	Unclassified	BrainSpLMD|55007;Eurexp|euxassay_004603|marginal layer	
RG-div1	SLC25A40	0.812408343	3.00E-07	Transport/cargo protein	BrainSpLMD|55972	OMIM|610821
RG-div1	EIF5B	0.696576183	3.06E-07	Translation regulatory protein	BrainSpLMD|9669	OMIM|606086
RG-div1	AP000936.1	0.68642283	3.16E-07			
RG-div1	RABGGTB	0.27802483	3.17E-07	Enzyme: Prenyltransferase	BrainSpLMD|5876	OMIM|179080
RG-div1	RREB1	0.534860393	3.18E-07	Transcription factor	BrainSpLMD|6239;Eurexp|euxassay_007568|mantle layer;BrainSpMouseDev|44592	OMIM|602209;HPO|6239|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
RG-div1	DUSP12	0.266999186	3.20E-07	Dual specificity phosphatase	BrainSpLMD|11266	OMIM|604835
RG-div1	CHCHD3	0.333680074	3.23E-07	Unclassified	BrainSpLMD|54927;Eurexp|euxassay_001805|lobe, orbito-sphenoid, thymus primordium	OMIM|613748
RG-div1	DLG5	0.410147698	3.40E-07	Cell junction protein	BrainSpLMD|9231	OMIM|604090
RG-div1	NRAS	0.346132459	3.57E-07	GTPase	BrainSpLMD|4893	OMIM|164790;COSMIC||melanoma, MM, AML, thyroid;HPO|4893|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of dental color, Abnormality of dental morphology, Abnormality of finger, Abnormality of metabolism/homeostasis, Abnormality of the spleen, Abnormality of toe, Abnormality of vision, Adenoma sebaceum, Alopecia, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the cerebellum, Arrhythmia, Asymmetric growth, Asymmetry of the thorax, Autoimmune thrombocytopenia, Autosomal dominant inheritance, Basal cell carcinoma, Biparietal narrowing, Broad forehead, Broad nasal tip, Cavernous hemangioma, Coarctation of aorta, Coarse hair, Coloboma, Congenital giant melanocytic nevus, Congenital onset, Cranial asymmetry, Cranial nerve paralysis, Cryptorchidism, Curly hair, Cutaneous melanoma, Cystic hygroma, Death in infancy, Decreased lymphocyte apoptosis, Deep philtrum, Delayed skeletal maturation, Downslanted palpebral fissures, Dysarthria, EEG abnormality, Enlarged thorax, Everted lower lip vermilion, Facial asymmetry, Feeding difficulties in infancy, Follicular hyperplasia, Follicular thyroid carcinoma, Frontal bossing, Full cheeks, Generalized hirsutism, Generalized hypotonia, Genu recurvatum, Hemangioma, Hemimegalencephaly, Hemolytic anemia, Hepatomegaly, Hereditary nonpolyposis colorectal carcinoma, High forehead, High palate, Horseshoe kidney, Hyperkeratosis, Hyperreflexia, Hypertelorism, Hypogonadotrophic hypogonadism, Hypophosphatemic rickets, Hypopigmentation of the skin, Ichthyosis, Increased antibody level in blood, Intellectual disability, Iris coloboma, Irregular hyperpigmentation, Joint hyperflexibility, Kyphoscoliosis, Leukemia, Long philtrum, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Lymphoma, Lymphoproliferative disorder, Melanocytic nevus, Melanoma, Mental deterioration, Micrognathia, Microphthalmia, Midface retrusion, Monocytosis, Muscle weakness, Muscular hypotonia, Narrow nasal ridge, Neoplasm of the stomach, Neutropenia, Nevus sebaceous, Non-medullary thyroid carcinoma, Numerous congenital melanocytic nevi, Numerous nevi, Open mouth, Osteopenia, Overgrowth, Pancytopenia, Pectus carinatum, Pectus excavatum, Periorbital fullness, Plagiocephaly, Porencephalic cyst, Prominence of the premaxilla, Prominent forehead, Prominent occiput, Proptosis, Ptosis, Pulmonary artery stenosis, Recurrent fractures, Reduced tendon reflexes, Renal cell carcinoma, Round face, Scoliosis, Seizures, Short nose, Short stature, Somatic mosaicism, Splenomegaly, Sporadic, Strabismus, Telecanthus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Transitional cell carcinoma of the bladder, Triangular face, Uterine leiomyosarcoma, Vertebral segmentation defect, Webbed neck, Wide intermamillary distance
RG-div1	SRF	0.610898341	3.58E-07	Transcription factor	BrainSpLMD|6722;Eurexp|euxassay_019526|bladder, metanephros, submandibular gland primordium, urethra;BrainSpMouseDev|20569	OMIM|600589
RG-div1	DGCR8	0.269618895	3.58E-07	Unclassified	BrainSpLMD|54487	OMIM|609030;COSMIC||Wilms tumour;HPO|54487|Abnormality of the ear, Abnormality of the endocrine system, Abnormality of the hand, Aggressive behavior, Autosomal dominant inheritance, Blepharophimosis, Bulbous nose, Cleft palate, Hypocalcemia, Inguinal hernia, Intellectual disability, Microcephaly, Mood swings, Muscular hypotonia, Nasal speech, Open mouth, Paranoia, Pierre-Robin sequence, Posterior embryotoxon, Recurrent infections, Retinal vascular tortuosity, Retrognathia, Right aortic arch with mirror image branching, Short stature, Specific learning disability, Tetralogy of Fallot, Umbilical hernia, Underdeveloped nasal alae, Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Ventricular septal defect
RG-div1	RALY	0.35409842	3.62E-07	RNA binding protein	BrainSpLMD|22913	OMIM|614663
RG-div1	PLCXD1	0.412397963	3.72E-07	Enzyme: Phospholipase		OMIM|300974
RG-div1	PEF1	0.650893263	3.72E-07	Calcium binding protein	BrainSpLMD|553115	OMIM|610033
RG-div1	XPNPEP3	0.796616961	3.96E-07	Unclassified	BrainSpLMD|63929	OMIM|613553;HPO|63929|Autosomal recessive inheritance, Kinetic tremor, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Tubular atrophy, Tubular basement membrane disintegration
RG-div1	LMAN2	0.338746481	4.19E-07	Transport/cargo protein	BrainSpLMD|10960	OMIM|609551
RG-div1	VKORC1L1	0.506687214	4.22E-07	Integral membrane protein	BrainSpLMD|154807	OMIM|608838
RG-div1	UPF2	0.431512386	4.47E-07	RNA binding protein	BrainSpLMD|26019	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605529
RG-div1	TMEM9B	0.420463135	4.53E-07	Integral membrane protein	BrainSpLMD|56674	
RG-div1	KAZN	0.398521164	4.69E-07	Unclassified	BrainSpLMD|23254	
RG-div1	MEIS1	0.323689618	4.73E-07	Transcription factor	BrainSpLMD|4211;Eurexp|euxassay_010373|cornea, epithelium, hindgut, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, respiratory, sublingual gland primordium, submandibular gland primordium, trachea, ventricular layer, vibrissa;BrainSpMouseDev|17037	OMIM|601739
RG-div1	TVP23B	0.307295574	4.84E-07	Integral membrane protein	BrainSpLMD|51030;Eurexp|euxassay_019263|lung	
RG-div1	RMND1	0.344975456	4.94E-07	Unclassified	BrainSpLMD|55005	OMIM|614917;HPO|55005|Areflexia, Autosomal recessive inheritance, CNS hypomyelination, Cerebral cortical atrophy, Congenital onset, Death in infancy, Decreased liver function, Delayed myelination, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hearing impairment, Hepatic steatosis, Hypoplasia of the corpus callosum, Hyporeflexia, Increased CSF lactate, Increased serum lactate, Lactic acidosis, Lethargy, Myopathy, Pachygyria, Renal cyst, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Seizures, Severe muscular hypotonia, Variable expressivity
RG-div1	RPL5P23	0.73853269	4.99E-07			
RG-div1	CEBPZOS	0.29701887	5.03E-07			
RG-div1	FAM149B1	0.492231004	5.09E-07	Unclassified	BrainSpLMD|317662	
RG-div1	XPO5	0.489240313	5.15E-07	Transport/cargo protein	BrainSpLMD|57510	OMIM|607845
RG-div1	RAB31	0.291124907	5.18E-07	GTPase	BrainSpLMD|11031;Eurexp|euxassay_003248|axial muscle, basal plate, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, submandibular gland primordium, thoracic, trigeminal V, vagus X, vibrissa	OMIM|605694
RG-div1	SS18L2	0.299202035	5.18E-07	Unclassified	BrainSpLMD|51188;Eurexp|euxassay_007845|Meckel's cartilage, basioccipital bone, clavicle, cricoid, fibula, metatarsus, nasal septum, orbito-sphenoid, otic capsule, rib, submandibular gland primordium, temporal bone, thyroid, tibia, turbinate	OMIM|606473
RG-div1	ZBTB43	0.416881984	5.24E-07	Transcription regulatory protein	BrainSpLMD|23099	
RG-div1	PLAGL1	0.395323003	5.27E-07	Transcription regulatory protein	BrainSpLMD|5325;BrainSpMouseDev|22391	OMIM|603044;HPO|5325|Abnormality of earlobe, Abnormality of the pancreatic islet cells, Arthrogryposis multiplex congenita, Bilateral ptosis, Cardiomegaly, Contractures of the joints of the lower limbs, Cryptorchidism, Dehydration, Downturned corners of mouth, Failure to thrive, Generalized myoclonic seizures, Gingival overgrowth, Global developmental delay, Glycosuria, Hepatomegaly, High palate, Hyperglycemia, Hypoplastic fingernail, Hypovolemia, Intellectual disability, Intrauterine growth retardation, Ketonuria, Labial hypertrophy, Macroglossia, Micrognathia, Motor delay, Neonatal insulin-dependent diabetes mellitus, Neonatal respiratory distress, Oligohydramnios, Postnatal growth retardation, Precocious puberty, Prominent metopic ridge, Prominent nose, Prominent occiput, Retrognathia, Shallow orbits, Small anterior fontanelle, Transient neonatal diabetes mellitus, Umbilical hernia, Ventricular septal defect, Weight loss
RG-div1	GPC1	0.379881166	5.29E-07	Cell surface receptor	BrainSpLMD|2817;Eurexp|euxassay_007466|cervical, cervico-thoracic, clavicle, cochlea, diaphragm, dorsal root ganglion, exoccipital bone, extrinsic ocular muscle, facial VII, femur, fibula, glossopharyngeal IX, humerus, incisor, lip, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, neural retina, nucleus pulposus, olfactory, orbito-sphenoid, pancreas, pelvic girdle, radius, rest of mesenchyme, rib, saccule, skeletal muscle, sternum, stomach, submandibular gland primordium, thoracic, thymus primordium, tibia, trigeminal V, ulna, vagus X, valve, vault of skull, ventral grey horn, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|600395
RG-div1	DECR1	0.340762063	5.45E-07	Enzyme: Reductase	BrainSpLMD|1666	OMIM|222745
RG-div1	PPP4R1	0.398670957	5.64E-07	Enzyme regulator	BrainSpLMD|9989	OMIM|604908
RG-div1	CWF19L1	0.336625805	5.73E-07	Unclassified	BrainSpLMD|55280	OMIM|616120;HPO|55280|Autosomal recessive inheritance, Dysarthria, Dysmetria, Generalized hypotonia, Global developmental delay, Infantile onset, Intellectual disability, Nonprogressive, Slow progression, Tremor, Truncal ataxia, Unsteady gait
RG-div1	TANC1	1.034032589	5.76E-07	Unclassified	Eurexp|euxassay_012462|mandible, maxilla, metanephros, ventricular layer	OMIM|611397
RG-div1	CREB3	0.387704017	6.00E-07	Transcription factor	BrainSpLMD|10488;Eurexp|euxassay_004843|clavicle, dorsal root ganglion, glossopharyngeal IX, mandible, maxilla, medulla, orbito-sphenoid, rib, trigeminal V;BrainSpMouseDev|12696	OMIM|606443
RG-div1	IRS2	0.298128363	6.10E-07	Adapter molecule	BrainSpLMD|8660;Eurexp|euxassay_014216|cortex, dorsal root ganglion, incisor, lip, molar, skeleton, skin, thymus primordium, ventricular layer	OMIM|600797
RG-div1	SP2	0.602553442	6.50E-07	Transcription factor	BrainSpLMD|6668	OMIM|601801
RG-div1	CDK13	0.25538418	6.53E-07	Serine/threonine kinase	BrainSpLMD|8621	OMIM|603309;HPO|8621|Atrial septal defect, Autosomal dominant inheritance, Camptodactyly, Clinodactyly, Delayed speech and language development, Epicanthus, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hypertelorism, Intellectual disability, Joint hypermobility, Narrow mouth, Posteriorly rotated ears, Ptosis, Short philtrum, Strabismus, Thin upper lip vermilion, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
RG-div1	SLC44A2	0.68619922	6.59E-07	Integral membrane protein	BrainSpLMD|57153	OMIM|606106
RG-div1	RANBP2	0.298026937	6.61E-07	Transport/cargo protein	BrainSpLMD|5903;Eurexp|euxassay_016512|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|601181;COSMIC||inflammatory myofibroblastic tumour
RG-div1	ADRM1	0.253149891	6.70E-07	Adhesion molecule;Cell surface receptor	BrainSpLMD|11047;Eurexp|euxassay_011943|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|610650
RG-div1	HS2ST1	0.486450829	6.85E-07	Enzyme: Sulphotransferase	BrainSpLMD|9653	OMIM|604844
RG-div1	PRDX2	0.363417116	7.05E-07	Enzyme: Peroxidase	BrainSpLMD|7001;Eurexp|euxassay_006304|embryo	OMIM|600538
RG-div1	FRMD5	0.722781804	7.24E-07	Integral membrane protein	BrainSpLMD|84978;Eurexp|euxassay_010946|atrium, bladder, brain, calyces, cervical, cervico-thoracic, collecting ducts, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, left lung, medulla, mesenchyme, mesentery, midgut, molar, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, peritoneal cavity, rectum, retina, right lung, spinal cord, stomach, thoracic, trachea, trigeminal V, urethra, vagus X, ventricle, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|616309
RG-div1	ETV6	0.733806542	7.65E-07	Transcription factor	BrainSpLMD|2120;Eurexp|euxassay_012303|incisor, molar, olfactory, parotid, submandibular gland primordium, thymus primordium, thyroid;BrainSpMouseDev|13788	OMIM|600618;COSMIC||congenital fibrosarcoma, multiple different leukaemia and lymphoma tumour types including ALL, secretory breast, MDS;HPO|2120|Autosomal dominant inheritance, Bruising susceptibility, Epistaxis, Petechiae, Thrombocytopenia
RG-div1	KARS	0.260024926	8.00E-07	Enzyme: Ligase	BrainSpLMD|3735;Eurexp|euxassay_002719|orbito-sphenoid	OMIM|601421;HPO|3735|Areflexia, Autosomal recessive inheritance, Distal sensory impairment, Foot dorsiflexor weakness, Global developmental delay, Hearing impairment, Hyporeflexia, Pes cavus, Steppage gait, Vestibular Schwannoma
RG-div1	LRRFIP2	0.634960165	8.05E-07	Unclassified	BrainSpLMD|9209;Eurexp|euxassay_012383|mandible, maxilla, orbito-sphenoid	OMIM|614043
RG-div1	PCID2	0.340401654	8.44E-07	Unclassified	BrainSpLMD|55795	OMIM|613713
RG-div1	RP11.845C23.2	0.502895634	8.52E-07			
RG-div1	GTF2F1	0.32587373	8.97E-07	Transcription factor	BrainSpLMD|2962	OMIM|189968
RG-div1	RPP38	0.373069865	9.48E-07	Ribonucleoprotein	BrainSpLMD|10557	OMIM|606116
RG-div1	PCIF1	0.360903736	9.65E-07	Transcription regulatory protein	BrainSpLMD|63935	
RG-div1	ATM	0.379263878	9.94E-07	Serine/threonine kinase	BrainSpLMD|472	OMIM|607585;COSMIC||T-PLL, leukaemia, lymphoma, medulloblastoma, glioma;HPO|472|Abnormal spermatogenesis, Abnormality of bone marrow cell morphology, Abnormality of chromosome stability, Abnormality of the hair, Anorexia, Aplasia/Hypoplasia of the thymus, Ataxia, Autosomal recessive inheritance, B-cell lymphoma, Bronchiectasis, Cafe-au-lait spot, Cellular immunodeficiency, Choreoathetosis, Conjunctival telangiectasia, Decreased antibody level in blood, Decreased number of CD4+ T cells, Defective B cell differentiation, Delayed puberty, Diabetes mellitus, Dysarthria, Dystonia, Elevated alpha-fetoprotein, Elevated hepatic transaminases, Fatigue, Female hypogonadism, Fever, Gait disturbance, Glucose intolerance, Hodgkin lymphoma, Hypopigmentation of hair, Hypoplasia of the thymus, IgA deficiency, Immunoglobulin IgG2 deficiency, Leukemia, Lymphadenopathy, Lymphopenia, Mucosal telangiectasiae, Myoclonus, Neoplasm, Non-Hodgkin lymphoma, Nystagmus, Polycystic ovaries, Premature graying of hair, Recurrent bronchitis, Recurrent respiratory infections, Reduced tendon reflexes, Seizures, Short stature, Sinusitis, Skeletal muscle atrophy, Spasticity, Splenomegaly, Strabismus, Telangiectasia of the skin, Tremor, Weight loss
RG-div1	TRAF3IP2	0.369935877	1.04E-06	Unclassified	BrainSpLMD|10758	OMIM|607043;HPO|10758|Abnormal toenail morphology, Abnormality of the fingernails, Abnormality of the vagina, Autosomal recessive inheritance, Blepharitis, Broad nail, Cheilitis, Dyspareunia, Erythema, Hyperkeratosis, Macroglossia, Onychomycosis, Papule, Skin rash, Skin ulcer
RG-div1	SCAMP2	0.542339655	1.06E-06	Membrane transport protein	BrainSpLMD|10066	OMIM|606912
RG-div1	GRB10	0.662617747	1.08E-06	Adapter molecule	BrainSpLMD|2887;Eurexp|euxassay_011372|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|601523
RG-div1	TAF15	0.279404579	1.09E-06	Transcription regulatory protein	BrainSpLMD|8148	OMIM|601574;COSMIC||extraskeletal myxoid chondrosarcoma, ALL;HPO|8148|Amyotrophic lateral sclerosis, Anxiety, Chondrosarcoma, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Somatic mutation, Spasticity, Xerostomia
RG-div1	MYEOV2	0.823961223	1.10E-06			
RG-div1	BCAP29	0.253035927	1.10E-06	Integral membrane protein	BrainSpLMD|55973;Eurexp|euxassay_000840|dorsal root ganglion, lobe, submandibular gland primordium, thymus primordium, vagus X, ventricular layer, vibrissa	
RG-div1	KLHL12	0.270385908	1.13E-06	Unclassified	BrainSpLMD|59349	OMIM|614522
RG-div1	TMEM248	0.519095942	1.15E-06	Unclassified	BrainSpLMD|55069;Eurexp|euxassay_012566|ventricle	
RG-div1	ADSL	0.410296133	1.18E-06	Enzyme: Lyase	BrainSpLMD|158	SFARI||Autism, No category;OMIM|608222;HPO|158|Abnormal facial shape, Absent speech, Aggressive behavior, Anteverted nares, Autism, Autosomal recessive inheritance, Brachycephaly, Brisk reflexes, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Cerebral hypomyelination, Delayed speech and language development, Flat occiput, Gait ataxia, Generalized hypotonia, Global developmental delay, Growth delay, Hyperactivity, Hypointensity of cerebral white matter on MRI, Inability to walk, Inappropriate laughter, Infantile onset, Intellectual disability, Long philtrum, Low-set ears, Microcephaly, Myoclonus, Nystagmus, Opisthotonus, Poor eye contact, Prominent metopic ridge, Seizures, Self-mutilation, Severe global developmental delay, Short nose, Skeletal muscle atrophy, Smooth philtrum, Strabismus, Thin upper lip vermilion, Wide mouth
RG-div1	FILIP1L	0.359707272	1.21E-06	Unclassified	BrainSpLMD|11259	OMIM|612993
RG-div1	SERPINB6	0.375374978	1.23E-06	Protease inhibitor	BrainSpLMD|5269;Eurexp|euxassay_012500|adrenal gland, aorta, diaphragm, dorsal root ganglion, epithelium, eyelid, facial VII, glossopharyngeal IX, hindgut, incisor, left lung, mantle layer, mesenchyme, midgut, naris, naso-lacrimal duct, ovary, rectum, right lung, submandibular gland primordium, testis, thymus primordium, trachea, trigeminal V, umbilical artery, vagus X, ventral grey horn	OMIM|173321;HPO|5269|Autosomal recessive inheritance, Progressive hearing impairment
RG-div1	EPB41L4A	0.381678969	1.24E-06	Structural protein	BrainSpLMD|64097;Eurexp|euxassay_010576|anterior, basal columns, cervical, cervico-thoracic, choroid invagination, choroid plexus, dorsal root ganglion, ear, facial VII, glossopharyngeal IX, incisor, lens, mantle layer, marginal layer, midgut, molar, neural retina, olfactory, rectum, rest of skin, stomach, thoracic, trigeminal V, vestibulocochlear VIII, vibrissa	OMIM|612141
RG-div1	SORD	0.443815894	1.25E-06	Enzyme: Dehydrogenase	BrainSpLMD|6652	OMIM|182500
RG-div1	CCNK	0.572131621	1.28E-06	Transcription regulatory protein	BrainSpLMD|8812	OMIM|603544
RG-div1	UCK2	0.26080633	1.33E-06	Enzyme: Phosphotransferase	BrainSpLMD|7371;Eurexp|euxassay_002578|axial muscle, incisor, neural retina, orbito-sphenoid, pectoral girdle and thoracic body wall, stroma, submandibular gland primordium, thymus primordium, vibrissa	OMIM|609329
RG-div1	AP1G1	0.261062957	1.37E-06	Transport/cargo protein	BrainSpLMD|164	OMIM|603533
RG-div1	LYRM5	0.623351458	1.41E-06			
RG-div1	KDM6A	0.401795528	1.44E-06	Unclassified	BrainSpLMD|7403	SFARI||Autism, 2 - Strong candidate;OMIM|300128;COSMIC||renal cell carcinoma, bladder carcinoma, oesophageal SCC, MM, medulloblastoma, T-ALL, other tumour types, Kabuki syndrome;HPO|7403|Abnormal dermatoglyphics, Abnormal vertebral morphology, Abnormality of the breast, Abnormality of the cardiac septa, Abnormality of the dentition, Anal atresia, Anal stenosis, Anoperineal fistula, Atrial septal defect, Autoimmune thrombocytopenia, Autosomal dominant inheritance, Behavioral abnormality, Blue sclerae, Broad nasal tip, Butterfly vertebrae, Cafe-au-lait spot, Central hypotonia, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Conductive hearing impairment, Congenital hip dislocation, Congenital hypothyroidism, Crossed fused renal ectopia, Cryptorchidism, Decreased body weight, Dental malocclusion, Depressed nasal tip, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Generalized hypotonia, Generalized joint laxity, Global developmental delay, Hearing impairment, Hemivertebrae, Hemolytic anemia, High palate, Highly arched eyebrow, Hirsutism, Hydrocephalus, Hypodontia, Intellectual disability, Intestinal malrotation, Joint hyperflexibility, Joint hypermobility, Long eyelashes, Long palpebral fissure, Macrotia, Malabsorption, Microcephaly, Microdontia, Micropenis, Muscular hypotonia, Neonatal hypoglycemia, Posteriorly rotated ears, Postnatal growth retardation, Preauricular pit, Premature thelarche, Prominent eyelashes, Prominent fingertip pads, Protruding ear, Ptosis, Recurrent aspiration pneumonia, Recurrent infections, Recurrent otitis media, Scoliosis, Seizures, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Sparse and thin eyebrow, Sparse lateral eyebrow, Strabismus, Ureteropelvic junction obstruction, Ventricular septal defect, Ventriculomegaly, Wide nasal bridge, Widely spaced teeth, X-linked dominant inheritance
RG-div1	CDADC1	0.408362042	1.50E-06	Enzyme: Hydrolase	BrainSpLMD|81602	
RG-div1	NTRK3	0.374457969	1.50E-06	Receptor tyrosine kinase	BrainSpLMD|4916;Eurexp|euxassay_017897|corpus striatum, dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|17980	SFARI||Autism, 4 - Minimal evidence;OMIM|191316;COSMIC||congenital fibrosarcoma, secretory breast
RG-div1	RYK	0.314160368	1.54E-06	Receptor tyrosine kinase	BrainSpLMD|6259;BrainSpMouseDev|19950	OMIM|600524
RG-div1	ZNF37BP	0.484340874	1.61E-06		BrainSpLMD|100129482	
RG-div1	FRS2	0.562450044	1.64E-06	Adapter molecule	BrainSpLMD|10818	OMIM|607743
RG-div1	AC015849.19	0.624090648	1.65E-06			
RG-div1	POLG2	0.430393082	1.66E-06	DNA polymerase	BrainSpLMD|11232	OMIM|604983;HPO|11232|Adult onset, Arrhythmia, Autosomal dominant inheritance, Cytochrome C oxidase-negative muscle fibers, Elevated serum creatine phosphokinase, Exercise intolerance, Facial palsy, Glucose intolerance, Increased serum lactate, Limb muscle weakness, Multiple mitochondrial DNA deletions, Myalgia, Progressive, Progressive external ophthalmoplegia, Progressive muscle weakness, Ptosis, Variable expressivity
RG-div1	PSPH	0.3293362	1.67E-06	Serine/threonine phosphatase	BrainSpLMD|5723;Eurexp|euxassay_007810|calyces, left, right, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|172480;HPO|5723|Autosomal recessive inheritance, Global developmental delay, Hypertonia, Infantile onset, Intellectual disability, Intrauterine growth retardation, Postnatal growth retardation, Seizures
RG-div1	ASCC1	0.302904755	1.95E-06	Transcription regulatory protein	BrainSpLMD|51008;Eurexp|euxassay_002995|bladder, hindgut, midgut, nasal capsule, oesophagus, olfactory, thymus primordium	OMIM|614215;HPO|51008|Autosomal recessive inheritance, Axonal loss, Barrett esophagus, Congenital onset, Esophageal carcinoma, Generalized hypotonia, Increased variability in muscle fiber diameter, Peripheral axonal neuropathy, Respiratory failure, Somatic mutation, Spinal muscular atrophy
RG-div1	CNTROB	0.467770408	1.97E-06	Cell cycle control protein;Unclassified	BrainSpLMD|116840	OMIM|611425
RG-div1	RAD51D	0.891608928	2.03E-06	DNA repair protein	BrainSpLMD|5892	OMIM|602954;HPO|5892|Abnormality of the fallopian tube, Breast carcinoma, Ovarian neoplasm, Primary peritoneal carcinoma
RG-div1	TAPT1	0.764076915	2.05E-06	Integral membrane protein	BrainSpLMD|202018	OMIM|612758;HPO|202018|Adducted thumb, Anteverted nares, Ascites, Autosomal recessive inheritance, Beaded ribs, Brachycephaly, Cardiomegaly, Cerebellar hypoplasia, Cleft palate, Decreased skull ossification, Flared metaphysis, Flat face, Flexion contracture, Fractured radius, Hydronephrosis, Hydrops fetalis, Hypertelorism, Hypertrophic cardiomyopathy, Hypospadias, Intrauterine growth retardation, Large fleshy ears, Limb undergrowth, Low-set ears, Microcephaly, Micrognathia, Micropenis, Multiple prenatal fractures, Multiple rib fractures, Osteopenia, Platyspondyly, Pleural effusion, Polyhydramnios, Posteriorly rotated ears, Prominent forehead, Pulmonary hypoplasia, Short femur, Short neck, Short nose, Short ribs, Single umbilical artery, Small for gestational age, Telecanthus, Thoracic hypoplasia, Unilateral cleft lip, Ventricular septal defect, Ventriculomegaly, Webbed neck, Wide nasal bridge, Wormian bones
RG-div1	TIMM23B	0.545321796	2.06E-06		Eurexp|euxassay_002670|basal plate, incisor, molar, orbito-sphenoid, submandibular gland primordium, ventral grey horn, ventricular layer	
RG-div1	CNPY3	0.273163621	2.38E-06	Unclassified	BrainSpLMD|10695;Eurexp|euxassay_013821|mantle layer	OMIM|610774
RG-div1	DNAJB12	0.448442232	2.38E-06	Integral membrane protein	BrainSpLMD|54788	OMIM|608376
RG-div1	CRY1	0.572084295	2.42E-06	Translation regulatory protein	BrainSpLMD|1407	OMIM|601933
RG-div1	PPP1R8	0.477337121	2.55E-06	Ribonuclease	BrainSpLMD|5511;Eurexp|euxassay_002630|adrenal gland	OMIM|602636
RG-div1	EIF4E3	0.252283296	2.55E-06	RNA binding protein	BrainSpLMD|317649;Eurexp|euxassay_007888|neural retina, olfactory, vomeronasal organ	OMIM|609896
RG-div1	RNF167	0.403698366	2.58E-06	Ubiquitin proteasome system protein	BrainSpLMD|26001	OMIM|610431
RG-div1	RP11.436K8.1	0.509181479	2.60E-06			
RG-div1	TMEM9	0.263723619	2.60E-06	Integral membrane protein	BrainSpLMD|252839;Eurexp|euxassay_003611|choroid plexus, incisor, lateral recess, molar	OMIM|616877
RG-div1	PPM1D	0.532231256	2.64E-06	Serine/threonine phosphatase	BrainSpLMD|8493	SFARI||Autism, No category;OMIM|605100;COSMIC||glioma, ovarian cancer, breast cancer;HPO|8493|Anteverted nares, Anxiety, Attention deficit hyperactivity disorder, Autistic behavior, Autosomal dominant inheritance, Brachydactyly, Breast carcinoma, Broad forehead, Broad-based gait, Constipation, Delayed speech and language development, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Heterogeneous, Hyperlordosis, Hypermetropia, Intellectual disability, Low-set ears, Obsessive-compulsive behavior, Posteriorly rotated ears, Short foot, Short stature, Small hand, Small nail, Strabismus, Thin upper lip vermilion, Vomiting, Wide mouth
RG-div1	SERPINH1	0.350872234	2.67E-06	Heat shock protein	BrainSpLMD|871	OMIM|600943;HPO|871|Autosomal recessive inheritance, Blue sclerae, Broad ribs, Chronic lung disease, Dentinogenesis imperfecta, Generalized hypotonia, Generalized joint laxity, Genu valgum, High forehead, High pitched voice, Inguinal hernia, Joint laxity, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Narrow chest, Narrow forehead, Nephrolithiasis, Osteopenia, Platyspondyly, Prominent forehead, Pyloric stenosis, Relative macrocephaly, Scoliosis, Shallow orbits, Short stature, Thin ribs, Triangular face, Vertebral compression fractures
RG-div1	ACOT9	0.777819666	2.84E-06	Enzyme: Esterase	BrainSpLMD|23597;Eurexp|euxassay_001726|dorsal root ganglion, trigeminal V, vagus X	OMIM|300862
RG-div1	MT.TT	0.329005654	2.88E-06			
RG-div1	MOB4	0.309057496	2.93E-06	Unclassified	BrainSpLMD|25843	OMIM|609361
RG-div1	SEL1L3	0.526064896	2.94E-06	Integral membrane protein	BrainSpLMD|23231;Eurexp|euxassay_002775|basal plate, calyces, cerebral cortex, corpus striatum, cortex, dorsal root ganglion, ductus deferens, foregut-midgut junction, glossopharyngeal IX, hindgut, marginal layer, midgut, rectum, stomach, submandibular gland primordium, trigeminal V, urethra, vestibulocochlear VIII	
RG-div1	CENPT	0.507747236	2.95E-06	Unclassified	BrainSpLMD|80152	OMIM|611510
RG-div1	GNPAT	0.291680876	3.01E-06	Enzyme: Acyltransferase	BrainSpLMD|8443;Eurexp|euxassay_008409|embryo	OMIM|602744;HPO|8443|Abnormality of pelvic girdle bone morphology, Anteverted nares, Autosomal recessive inheritance, Calcific stippling, Cataract, Depressed nasal bridge, Failure to thrive, Flexion contracture, Generalized hypotonia, High forehead, High palate, Intellectual disability, Irregular vertebral endplates, Large fontanelles, Microcephaly, Micrognathia, Osteopenia, Rhizomelia, Scoliosis, Short humerus, Stippled calcification proximal humeral epiphyses, Wide nasal bridge
RG-div1	HSD17B7	0.363941713	3.02E-06	Enzyme: Dehydrogenase	Eurexp|euxassay_000551|dorsal root ganglion, marginal layer, neural retina, spleen primordium, testis	OMIM|606756
RG-div1	ZNF844	0.272968941	3.10E-06		BrainSpLMD|284391	
RG-div1	PEX19	0.277515214	3.15E-06	Integral membrane protein	BrainSpLMD|5824	OMIM|600279;HPO|5824|Abnormal cortical bone morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the hairline, Abnormality of the liver, Abnormality of the male genitalia, Abnormality of the palate, Anteverted nares, Ataxia, Atrial septal defect, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, CNS demyelination, Cataract, Central hypotonia, Cerebral atrophy, Cholelithiasis, Chorioretinal abnormality, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cranial asymmetry, Cryptorchidism, Death in infancy, Decreased body weight, Decreased fetal movement, Delayed closure of the anterior fontanelle, Depressed nasal bridge, Developmental regression, Dolichocephaly, Double outlet right ventricle, EEG abnormality, Elevated hepatic transaminases, Elevated levels of phytanic acid, Elevated long chain fatty acids, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Global developmental delay, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydrocephalus, Hydronephrosis, Hyperbilirubinemia, Hyperreflexia, Hypospadias, Jaundice, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Muscular hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Patent ductus arteriosus, Periorbital fullness, Polymicrogyria, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Prominent nose, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Renal tubular dysfunction, Respiratory insufficiency, Rod-cone dystrophy, Scaphocephaly, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Skeletal dysplasia, Spasticity, Strabismus, Triangular face, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
RG-div1	HGSNAT	0.265237783	3.23E-06	Transport/cargo protein	BrainSpLMD|138050	OMIM|610453;HPO|138050|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Asymmetric septal hypertrophy, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Cellular metachromasia, Coarse facial features, Coarse hair, Conductive hearing impairment, Constriction of peripheral visual field, Dense calvaria, Diarrhea, Dolichocephaly, Dysostosis multiplex, Dysphagia, Everted lower lip vermilion, Glaucoma, Growth abnormality, Hearing impairment, Heparan sulfate excretion in urine, Hepatomegaly, Hernia, Hirsutism, Hyperactivity, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Joint stiffness, Keratoconus, Kyphoscoliosis, Loss of speech, Motor delay, Motor deterioration, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Ovoid thoracolumbar vertebrae, Photophobia, Progressive night blindness, Recurrent upper respiratory tract infections, Retinal atrophy, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Sleep disturbance, Splenomegaly, Synophrys, Thickened ribs, Variable expressivity, Wide nasal bridge
RG-div1	AKAP8	0.289988672	3.28E-06	Cell cycle control protein	BrainSpLMD|10270	OMIM|604692
RG-div1	RFFL	0.364816815	3.33E-06	Unclassified	BrainSpLMD|117584	OMIM|609735
RG-div1	CCNH	0.313892948	3.38E-06	Transcription regulatory protein	BrainSpLMD|902;Eurexp|euxassay_000265|cranium	OMIM|601953
RG-div1	PSMD2	0.529811056	3.51E-06	Ubiquitin proteasome system protein	BrainSpLMD|5708	OMIM|606223
RG-div1	LGALSL	0.264736616	3.53E-06		BrainSpLMD|29094;Eurexp|euxassay_002315|dorsal root ganglion, pectoral girdle and thoracic body wall, rib, submandibular gland primordium	
RG-div1	SDHAP3	0.617956238	3.81E-06			
RG-div1	TFCP2	0.694685971	3.83E-06	Transcription factor	BrainSpLMD|7024;BrainSpMouseDev|21183	OMIM|189889
RG-div1	ADSS	0.531665024	3.86E-06	Enzyme: Synthase	BrainSpLMD|159	OMIM|103060
RG-div1	PITPNA	0.328103888	3.87E-06	Transport/cargo protein	BrainSpLMD|5306	OMIM|600174
RG-div1	SMARCAL1	0.461965736	4.09E-06	Transcription regulatory protein	BrainSpLMD|50485	OMIM|606622;HPO|50485|Abnormal T cell morphology, Abnormal immunoglobulin level, Abnormality of epiphysis morphology, Anemia, Arteriosclerosis, Astigmatism, Autosomal recessive inheritance, Bulbous nose, Cellular immunodeficiency, Coarse hair, Depressed nasal bridge, Disproportionate short-trunk short stature, Fine hair, Focal segmental glomerulosclerosis, Glomerulopathy, High pitched voice, Hip dislocation, Hyperlordosis, Hypermelanotic macule, Hypertension, Hypoplasia of the capital femoral epiphysis, Increased thyroid-stimulating hormone level, Intrauterine growth retardation, Lateral displacement of the femoral head, Lumbar hyperlordosis, Lymphopenia, Melanocytic nevus, Microdontia, Motor delay, Multiple cafe-au-lait spots, Myopia, Nephrotic syndrome, Neutropenia, Opacification of the corneal stroma, Osteopenia, Ovoid vertebral bodies, Platyspondyly, Proteinuria, Protuberant abdomen, Recurrent infections, Renal insufficiency, Shallow acetabular fossae, Short neck, Spondyloepiphyseal dysplasia, Thoracic kyphosis, Thrombocytopenia, Transient ischemic attack, Waddling gait
RG-div1	KIF1A	0.253921643	4.16E-06	Motor protein	BrainSpLMD|547;Eurexp|euxassay_016778|alar plate, basal plate, cerebellum, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601255;HPO|547|Abnormal cortical bone morphology, Abnormality of epiphysis morphology, Abnormality of eye movement, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of the ankles, Abnormality of the eye, Abnormality of the hip bone, Abnormality of the knee, Abnormality of the palate, Abnormality of upper lip, Acral ulceration leading to autoamputation of digits, Anhidrosis, Ankle clonus, Anteverted nares, Areflexia, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Biparietal narrowing, Cerebellar atrophy, Cerebral cortical atrophy, Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Decreased taste sensation, Drowsiness, Dysmetria, Dystrophic fingernails, Dystrophic toenail, Edema of the lower limbs, Epicanthus, Episodic hyperhidrosis, External ear malformation, Feeding difficulties, Feeding difficulties in infancy, Foot acroosteolysis, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hydrocephalus, Hyperhidrosis, Hyperlordosis, Hyperreflexia, Hyporeflexia, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, severe, Limitation of joint mobility, Lower limb amyotrophy, Lower limb muscle weakness, Lower limb spasticity, Macrotia, Malar flattening, Microcephaly, Midface retrusion, Open mouth, Optic atrophy, Osteolytic defects of the phalanges of the hand, Painless fractures due to injury, Palpebral edema, Paronychia, Peripheral axonal neuropathy, Peripheral edema, Peripheral neuropathy, Porencephalic cyst, Progressive, Recurrent respiratory infections, Reduced bone mineral density, Severe muscular hypotonia, Short nose, Skeletal muscle atrophy, Slow progression, Spastic gait, Spastic paraplegia, Tapered finger, Urinary bladder sphincter dysfunction, Variable expressivity, Ventriculomegaly, Visual loss, Wormian bones
RG-div1	ERAL1	0.28849977	4.43E-06	GTPase	BrainSpLMD|26284	OMIM|607435
RG-div1	ZNF280B	0.431556565	4.50E-06	Transcription regulatory protein	BrainSpLMD|140883	
RG-div1	SLC33A1	0.531830794	4.55E-06	Enzyme: Transferase	BrainSpLMD|9197	SFARI||Autism, 5 - Hypothesized but untested;OMIM|603690;HPO|9197|Absent speech, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Congenital cataract, Decreased serum ceruloplasmin, Generalized hypotonia, Global developmental delay, Hearing impairment, Infantile onset, Lower limb hyperreflexia, Muscle weakness, Nystagmus, Pes cavus, Progressive, Skeletal muscle atrophy, Spastic gait, Spastic paraplegia
RG-div1	TDRD3	0.256271765	4.56E-06	RNA binding protein	BrainSpLMD|81550	OMIM|614392
RG-div1	KDSR	0.386534477	4.64E-06	Secreted polypeptide	BrainSpLMD|2531	OMIM|136440;COSMIC||B-NHL;HPO|2531|Abnormal blistering of the skin, Alopecia, Autosomal recessive inheritance, Cataract, Cutaneous photosensitivity, Diabetes mellitus, Dry skin, Epidermal acanthosis, Erythema, Glaucoma, Hypermelanotic macule, Microcephaly, Palmoplantar keratoderma, Patchy palmoplantar keratoderma, Short stature, Skin plaque, Skin rash, Weight loss
RG-div1	GAPDHP65	0.315745205	4.75E-06			
RG-div1	AUP1	0.303661939	4.78E-06	Unclassified	BrainSpLMD|550	OMIM|602434
RG-div1	TK2	0.815915493	4.89E-06	Enzyme: Phosphorylase	BrainSpLMD|7084	OMIM|188250;HPO|7084|Abnormality of the basal ganglia, Aminoaciduria, Autosomal recessive inheritance, Cerebral atrophy, Decreased activity of mitochondrial respiratory chain, Delayed gross motor development, Depletion of mitochondrial DNA in muscle tissue, Dysarthria, Dysphagia, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Facial diplegia, Facial palsy, Generalized amyotrophy, Generalized hypotonia, Gowers sign, Hearing impairment, Increased serum lactate, Infantile onset, Intellectual disability, progressive, Irritability, Lactic acidosis, Limb muscle weakness, Loss of ability to walk in early childhood, Mitochondrial myopathy, Progressive, Progressive external ophthalmoplegia, Proximal muscle weakness, Ptosis, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Scapular winging, Seizures, Skeletal muscle atrophy, Variable expressivity
RG-div1	LEMD3	0.320534181	4.94E-06	Integral membrane protein	BrainSpLMD|23592	OMIM|607844;HPO|23592|Abnormal cortical bone morphology, Abnormality of epiphysis morphology, Abnormality of the metaphysis, Autosomal dominant inheritance, Bone pain, Complete duplication of the distal phalanges of the hand, Connective tissue nevi, Delayed speech and language development, Ectopic kidney, Failure to thrive, Flat occiput, Flexion contracture, Generalized hypopigmentation, Generalized osteosclerosis, Global developmental delay, Hoarse voice, Hyperostosis, Hyperpigmentation of the skin, Hypertelorism, Increased bone mineral density, Intellectual disability, mild, Intrauterine growth retardation, Joint stiffness, Microcephaly, Nevus, Osteopoikilosis, Papule, Progressive, Scleroderma, Short stature, Skeletal dysplasia, Specific learning disability, Sporadic, Subcutaneous nodule, Tremor
RG-div1	ZBTB4	0.334644811	5.07E-06	Transcription regulatory protein	BrainSpLMD|57659	OMIM|612308
RG-div1	DERA	0.512001543	5.12E-06	Enzyme: Lyase	BrainSpLMD|51071	
RG-div1	MRPS9	0.434389634	5.16E-06	Ribosomal subunit	BrainSpLMD|64965;Eurexp|euxassay_012552|thymus primordium	OMIM|611975
RG-div1	PDIA3P1	0.316793336	5.22E-06			
RG-div1	ACVR1	0.815058948	5.24E-06	Receptor serine/threonine kinase	BrainSpLMD|90;Eurexp|euxassay_001869|vibrissa;BrainSpMouseDev|11265	OMIM|102576;COSMIC||DIPG, Fibrodysplasia ossificans progressiva;HPO|90|Abnormal vertebral morphology, Abnormality of the first metatarsal bone, Alopecia, Aplasia/Hypoplasia of the phalanges of the hallux, Autosomal dominant inheritance, Broad femoral neck, Clinodactyly of the 5th finger, Conductive hearing impairment, Ectopic ossification in ligament tissue, Ectopic ossification in muscle tissue, Ectopic ossification in tendon tissue, Hallux valgus, Hearing impairment, Limitation of joint mobility, Metaphyseal widening, Progressive cervical vertebral spine fusion, Respiratory failure, Respiratory insufficiency, Scoliosis, Sensorineural hearing impairment, Short 1st metacarpal, Short hallux, Small cervical vertebral bodies, Spinal rigidity, Subcutaneous nodule, Widely spaced teeth
RG-div1	ERP29	0.503069299	5.41E-06	Chaperone	BrainSpLMD|10961;Eurexp|euxassay_001731|Meckel's cartilage	OMIM|602287
RG-div1	ZNF69	0.634378602	5.99E-06	Transcription regulatory protein		OMIM|194543
RG-div1	HMCES	0.333477978	6.20E-06	Unclassified	BrainSpLMD|56941	
RG-div1	SNTB2	0.554346552	6.33E-06	Adapter molecule	BrainSpLMD|6645	OMIM|600027
RG-div1	HNRNPAB	0.307041034	6.34E-06	Ribonucleoprotein	BrainSpLMD|3182;BrainSpMouseDev|15159	OMIM|602688
RG-div1	FOXRED1	0.326854949	6.36E-06	Unclassified	BrainSpLMD|55572	OMIM|613622;HPO|55572|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, CNS demyelination, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Dysarthria, Dystonia, Emotional lability, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Gliosis, Global developmental delay, Growth delay, Hepatic failure, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Phenotypic variability, Pigmentary retinopathy, Progressive, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
RG-div1	COQ5	0.394587658	6.42E-06	Unclassified		OMIM|616359
RG-div1	DCAF6	0.281679403	6.58E-06	Transcription regulatory protein	BrainSpLMD|55827	OMIM|610494
RG-div1	POM121	0.330467356	6.66E-06	Integral membrane protein	BrainSpLMD|9883	OMIM|615753
RG-div1	NIPSNAP3A	0.37940921	6.81E-06	Transport/cargo protein	BrainSpLMD|25934	OMIM|608871
RG-div1	MARS	0.31348434	6.82E-06	Enzyme: Ligase	BrainSpLMD|4141	OMIM|156560;HPO|4141|Alveolar proteinosis, Aminoaciduria, Anemia, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Clubbing, Cough, Decreased liver function, Distal sensory impairment, Dyspnea, Elevated hepatic transaminases, Failure to thrive, Foot dorsiflexor weakness, Hepatic steatosis, Hepatomegaly, Hypothyroidism, Interstitial pulmonary abnormality, Peripheral axonal neuropathy, Progressive, Respiratory insufficiency, Slow progression, Steppage gait, Variable expressivity
RG-div1	SNX17	0.356410951	6.83E-06	Adapter molecule	BrainSpLMD|9784	OMIM|605963
RG-div1	TRDMT1	0.295993549	6.93E-06	DNA methyltransferase	BrainSpLMD|1787;BrainSpMouseDev|13213	OMIM|602478
RG-div1	PSPHP1	0.302314838	7.05E-06	Serine/threonine phosphatase		OMIM|604239
RG-div1	GSTO1	0.274654196	7.88E-06	Enzyme: Glutathione transferase	BrainSpLMD|9446;Eurexp|euxassay_018672|midgut, oesophagus, stomach	OMIM|605482
RG-div1	CTD.2002H8.2	0.509417516	7.94E-06			
RG-div1	KXD1	0.561938465	8.29E-06	Unclassified	BrainSpLMD|79036	OMIM|615178
RG-div1	FUNDC1	0.363702671	8.51E-06	Unclassified	BrainSpLMD|139341;Eurexp|euxassay_009100|thymus primordium	OMIM|300871
RG-div1	NR2F1	0.291579257	8.65E-06	Nuclear receptor	BrainSpLMD|7025;BrainSpMouseDev|13643	SFARI||Autism, 4 - Minimal evidence;OMIM|132890;HPO|7025|Autosomal dominant inheritance, Global developmental delay, Intellectual disability, Nystagmus, Optic atrophy, Optic disc pallor, Reduced visual acuity, Strabismus, Tapered finger, Visual field defect, Visual impairment
RG-div1	ARHGEF26	0.447367817	8.66E-06		BrainSpLMD|26084;Eurexp|euxassay_016114|ventricular layer	OMIM|617552
RG-div1	TRIM69	0.481778463	9.01E-06	Cell cycle control protein	BrainSpLMD|140691	OMIM|616017
RG-div1	PPP2R2D	0.495423358	9.08E-06	Unclassified	BrainSpLMD|55844	OMIM|613992
RG-div1	ABT1	0.482524109	9.22E-06	Transcription factor	BrainSpLMD|29777;Eurexp|euxassay_007592|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|29936	
RG-div1	MED27	0.309900818	9.24E-06	Transcription regulatory protein	BrainSpLMD|9442	OMIM|605044
RG-div1	TMX2	0.253805245	9.52E-06	Integral membrane protein	Eurexp|euxassay_005201|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, lung, mantle layer, midbrain, olfactory lobe, retina, spinal cord, submandibular gland primordium, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|616715
RG-div1	BMP2K	0.275932334	9.57E-06	Serine/threonine kinase	BrainSpLMD|55589	OMIM|617648
RG-div1	EIF3B	0.48134181	1.01E-05	Translation regulatory protein	BrainSpLMD|8662	OMIM|603917
RG-div1	WDR6	0.366037438	1.02E-05	Integral membrane protein	BrainSpLMD|11180	OMIM|606031
RG-div1	C14orf159	0.32845041	1.03E-05			
RG-div1	PIGX	0.492387293	1.05E-05	Unclassified	BrainSpLMD|54965	OMIM|610276
RG-div1	RP11.778D9.4	0.504518809	1.08E-05			
RG-div1	EXOG	0.654714546	1.11E-05	Unclassified	BrainSpLMD|9941	OMIM|604051
RG-div1	KLF10	0.614655216	1.17E-05	Transcription factor	BrainSpLMD|7071	OMIM|601878
RG-div1	LRRC41	0.525198344	1.18E-05	Adapter molecule	BrainSpLMD|10489	
RG-div1	PRMT5	0.364039566	1.18E-05	Enzyme: Methyltransferase	BrainSpLMD|10419	OMIM|604045
RG-div1	PSMA5	0.418478154	1.19E-05	Ubiquitin proteasome system protein	BrainSpLMD|5686	OMIM|176844
RG-div1	CCDC6	0.647479874	1.20E-05	Unclassified;Cell cycle control protein	BrainSpLMD|8030	OMIM|601985;COSMIC||papillary thyroid, CML, NSCLC;HPO|8030|Autosomal dominant inheritance, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma
RG-div1	ZNF544	0.304942116	1.20E-05	DNA binding protein	BrainSpLMD|27300	
RG-div1	TAMM41	0.332694721	1.28E-05	Unclassified	BrainSpLMD|132001	OMIM|614948
RG-div1	ATF6B	0.328581479	1.35E-05	Transcription factor	Eurexp|euxassay_019533|dorsal root ganglion, lung, mantle layer, metanephros, submandibular gland primordium, thymus primordium, ventral grey horn, vibrissa;BrainSpMouseDev|12698	OMIM|600984
RG-div1	WDR27	0.410754241	1.39E-05	Unclassified	BrainSpLMD|253769	
RG-div1	EPB41L2	0.481199992	1.39E-05	Cytoskeletal protein	BrainSpLMD|2037;Eurexp|euxassay_010082|calyces, clavicle, femur, fibula, fundus region, lens, lung, mandible, maxilla, meninges, olfactory, orbito-sphenoid, pelvis, rib, roof plate, tibia, ureter	OMIM|603237
RG-div1	POLR2E	0.259059782	1.40E-05	RNA polymerase	BrainSpLMD|5434;Eurexp|euxassay_011641|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|180664
RG-div1	COMT	0.410453239	1.43E-05	Enzyme: Acyltransferase	BrainSpLMD|1312;Eurexp|euxassay_018193|basal columns, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, mantle layer, thymus primordium, trigeminal V, vagus X;BrainSpMouseDev|12629	OMIM|116790;HPO|1312|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
RG-div1	TUBGCP5	0.421809789	1.45E-05	Cytoskeletal protein	BrainSpLMD|114791	SFARI||Autism, No category;OMIM|608147
RG-div1	HPRT1	0.350908421	1.47E-05	Enzyme: Ribosyltransferase	BrainSpLMD|3251;Eurexp|euxassay_015575|Meckel's cartilage, dorsal root ganglion, facial VII, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, oesophagus, orbito-sphenoid, pancreas, rectum, stomach, submandibular gland primordium, thymus primordium, trigeminal V, urethra, ventral grey horn, vibrissa	OMIM|308000;HPO|3251|Abnormality of extrapyramidal motor function, Abnormality of movement, Anemia, Behavioral abnormality, Choreoathetosis, Dysarthria, Dysphagia, Dystonia, Generalized hypotonia, Gout, Hematuria, Hemiplegia/hemiparesis, Hyperreflexia, Hyperuricosuria, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Megaloblastic anemia, Motor delay, Nephrolithiasis, Opisthotonus, Podagra, Renal insufficiency, Short stature, Spasticity, Testicular atrophy, Vomiting, X-linked recessive inheritance
RG-div1	ZNF507	0.357349524	1.55E-05	DNA binding protein	BrainSpLMD|22847	
RG-div1	USP40	0.300059342	1.67E-05	Ubiquitin proteasome system protein		OMIM|610570
RG-div1	GANAB	0.656922165	1.68E-05	Enzyme: Hydrolase	BrainSpLMD|23193	OMIM|104160;HPO|23193|Autosomal dominant inheritance, Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia, Variable expressivity
RG-div1	BCAS2P2	0.994581465	1.76E-05			
RG-div1	EXOSC7	0.307938254	1.78E-05	Ribonuclease	BrainSpLMD|23016;Eurexp|euxassay_012334|cortex, incisor, liver, medullary stroma, molar, pancreas, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|606488
RG-div1	POLR1C	0.420601866	1.79E-05	RNA polymerase	BrainSpLMD|9533	OMIM|610060;HPO|9533|Abnormality of bone mineral density, Abnormality of the outer ear, Absent eyelashes, Ataxia, Autosomal recessive inheritance, CNS hypomyelination, Cleft eyelid, Cleft palate, Conductive hearing impairment, Downslanted palpebral fissures, Frontal bossing, Global developmental delay, Hypergonadotropic hypogonadism, Hypodontia, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Intellectual disability, Iris coloboma, Leukodystrophy, Low anterior hairline, Lower eyelid coloboma, Malar flattening, Mandibulofacial dysostosis, Micrognathia, Microtia, Midface retrusion, Narrow internal auditory canal, Open bite, Reduced number of teeth, Retrognathia, Short face, Skeletal dysplasia, Strabismus, Tremor, Visual impairment, Wide nasal bridge
RG-div1	ORAI2	0.634126825	1.92E-05	Unclassified	BrainSpLMD|80228;Eurexp|euxassay_008399|brain, dorsal root ganglion, glossopharyngeal IX, incisor, molar, naris, neural retina, olfactory, respiratory, spinal cord, thyroid, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|610929
RG-div1	COPB2	0.317131522	2.05E-05	Transport/cargo protein	BrainSpLMD|9276;Eurexp|euxassay_003332|cervical, cervico-thoracic, glomeruli, incisor, left, marginal layer, olfactory, right, submandibular gland primordium, testis, thoracic, thymus primordium, ventricular layer, vibrissa	OMIM|606990
RG-div1	ZRANB1	0.888601424	2.09E-05	Transcription regulatory protein	BrainSpLMD|54764	OMIM|611749
RG-div1	RAB1B	0.798853486	2.14E-05	GTPase	BrainSpLMD|81876	OMIM|612565
RG-div1	SPDYE2	0.524405038	2.16E-05	Unclassified		OMIM|617624
RG-div1	AC068522.4	0.370373831	2.19E-05			
RG-div1	RUFY1	0.25938963	2.21E-05	Ubiquitin proteasome system protein	BrainSpLMD|80230	OMIM|610327
RG-div1	WBP1L	0.331509322	2.25E-05	Integral membrane protein	BrainSpLMD|54838;Eurexp|euxassay_007077|cortex	OMIM|611129
RG-div1	NUTM2A.AS1	0.286206597	2.32E-05			
RG-div1	MRPL46	0.639763606	2.32E-05	Ribosomal subunit	BrainSpLMD|26589	OMIM|611851
RG-div1	KIAA1683	0.505491204	2.36E-05			
RG-div1	TMEM184B	0.385462931	2.57E-05	Unclassified	BrainSpLMD|25829	
RG-div1	KATNAL1	0.332501592	2.62E-05	ATPase	BrainSpLMD|84056	SFARI||Autism, 4 - Minimal evidence;OMIM|614764
RG-div1	RP11.423H2.1	0.738358312	2.70E-05			
RG-div1	GLYR1	0.428546567	2.71E-05	Enzyme: Dehydrogenase	BrainSpLMD|84656	OMIM|610660
RG-div1	SUMO3	0.433234139	2.73E-05	Ubiquitin proteasome system protein	BrainSpLMD|6612	OMIM|602231
RG-div1	YARS	0.309551125	2.76E-05	Enzyme: Ligase	BrainSpLMD|8565	OMIM|603623;HPO|8565|Abnormality of the foot, Autosomal dominant inheritance, Axonal regeneration, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Upper limb muscle weakness
RG-div1	KDELR2	0.426111043	2.78E-05	Transport/cargo protein	BrainSpLMD|11014;Eurexp|euxassay_004155|axial skeleton, cervical region, clavicle, cranium, femur, fibula, footplate, handplate, humerus, leg, lumbar region, mandible, orbito-sphenoid, otic capsule, palatal shelf, radius, rib, sacral region, sternum, thoracic region, tibia, turbinate bones, ulna	OMIM|609024
RG-div1	LINC00630	0.574621138	2.80E-05			
RG-div1	PFAS	0.262613505	2.86E-05	Enzyme: Synthase	BrainSpLMD|5198;Eurexp|euxassay_014197|liver, marginal layer, ventricular layer	OMIM|602133
RG-div1	NDUFS3	0.448389026	2.86E-05	Enzyme: Dehydrogenase	BrainSpLMD|4722;Eurexp|euxassay_018915|liver, midgut, orbito-sphenoid, pancreas, submandibular gland primordium, testis, thymus primordium	OMIM|603846;HPO|4722|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, CNS demyelination, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Dysarthria, Dystonia, Emotional lability, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Gliosis, Global developmental delay, Growth delay, Hepatic failure, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Phenotypic variability, Pigmentary retinopathy, Progressive, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
RG-div1	PLAA	0.349453017	2.93E-05	Adapter molecule	BrainSpLMD|9373	OMIM|603873
RG-div1	NAA60	0.686339866	2.93E-05	Unclassified	BrainSpLMD|79903	OMIM|614246
RG-div1	MRPL19	0.290094161	3.11E-05	Ribosomal subunit	BrainSpLMD|9801	OMIM|611832
RG-div1	THOC3	0.2921851	3.28E-05	RNA binding protein		OMIM|606929
RG-div1	RB1	0.681937598	3.28E-05	Transcription regulatory protein	BrainSpLMD|5925;Eurexp|euxassay_005526|olfactory, tongue, vertebral axis muscle system, vibrissa;BrainSpMouseDev|19408	OMIM|614041;COSMIC||retinoblastoma, sarcoma, breast, small cell lung carcinoma, retinoblastoma, sarcoma, breast, small cell lung carcinoma;HPO|5925|Abnormal dermatoglyphics, Abnormal lactate dehydrogenase activity, Abnormality of cardiovascular system morphology, Abnormality of metabolism/homeostasis, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphysis, Autosomal dominant inheritance, Brachydactyly, Cataract, Cleft palate, Clinodactyly of the 5th finger, Elevated alkaline phosphatase, Epicanthus, Ewing's sarcoma, Finger syndactyly, Hypertelorism, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Joint swelling, Leukemia, Leukocoria, Low-set ears, Lymphoma, Microcephaly, Micrognathia, Microphthalmia, Muscular hypotonia, Neoplasm of the lung, Osteolysis, Osteosarcoma, Pain, Pinealoma, Prominent nasal bridge, Protruding ear, Ptosis, Retinal calcification, Retinoblastoma, Short neck, Short stature, Somatic mutation, Sporadic, Thickened helices, Transitional cell carcinoma of the bladder, Trigonocephaly, Vitreous hemorrhage, Wide nasal bridge
RG-div1	ANAPC7	0.355240184	3.34E-05	Cell cycle control protein		OMIM|606949
RG-div1	NET1	0.385226303	3.49E-05	Guanine nucleotide exchange factor	BrainSpLMD|10276	OMIM|606450
RG-div1	PHF2	0.408065574	3.77E-05	Transcription regulatory protein	BrainSpLMD|5253	SFARI||Autism, 3 - Suggestive evidence;OMIM|604351
RG-div1	GPBP1L1	0.5712815	3.78E-05	Unclassified	BrainSpLMD|60313	
RG-div1	PTPN9	0.250659837	3.82E-05	Tyrosine phosphatase	BrainSpLMD|5780	OMIM|600768
RG-div1	ISY1	0.266849318	3.83E-05	Unclassified	BrainSpLMD|57461	OMIM|612764
RG-div1	BBS4	0.880305635	3.84E-05	Unclassified	BrainSpLMD|585	SFARI||Autism, No category;OMIM|600374;HPO|585|Abnormal electroretinogram, Asthma, Ataxia, Autosomal recessive inheritance, Biliary tract abnormality, Brachydactyly, Broad foot, Congenital primary aphakia, Cryptorchidism, Decreased testicular size, Delayed speech and language development, Dental crowding, Diabetes mellitus, External genital hypoplasia, Foot polydactyly, Gait imbalance, Global developmental delay, Hepatic fibrosis, High, narrow palate, Hirsutism, Hypertension, Hypodontia, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Left ventricular hypertrophy, Multicystic kidney dysplasia, Nephrogenic diabetes insipidus, Neurological speech impairment, Nyctalopia, Nystagmus, Obesity, Pigmentary retinopathy, Polydactyly, Poor coordination, Postaxial hand polydactyly, Radial deviation of finger, Renal cyst, Retinal degeneration, Rod-cone dystrophy, Short foot, Short stature, Specific learning disability, Strabismus, Syndactyly
RG-div1	IP6K1	0.298242196	4.06E-05	Lipid Kinase	BrainSpLMD|9807	OMIM|606991
RG-div1	ZNF347	0.8407163	4.09E-05	DNA binding protein	BrainSpLMD|84671	
RG-div1	PTPN11	0.425362322	4.12E-05	Tyrosine phosphatase	BrainSpLMD|5781	SFARI||Autism, 4 - Minimal evidence;OMIM|176876;COSMIC||JMML, AML, MDS, Noonan Syndrome;HPO|5781|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal joint morphology, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of the pulmonary artery, Abnormality of the spleen, Amegakaryocytic thrombocytopenia, Aplasia of the ovary, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Atrioventricular canal defect, Autosomal dominant inheritance, Bowing of the long bones, Brachydactyly, Bundle branch block, Cafe-au-lait spot, Cleft palate, Clinodactyly, Coarctation of aorta, Coarse hair, Cryptorchidism, Cubitus valgus, Cystic hygroma, Decreased fertility, Delayed menarche, Delayed puberty, Delayed skeletal maturation, Dental malocclusion, Depressed nasal ridge, Downslanted palpebral fissures, Dysarthria, Enlarged thorax, Epicanthus, Failure to thrive in infancy, Feeding difficulties in infancy, Freckling, Hepatomegaly, Heterogeneous, High forehead, High palate, High, narrow palate, Hyperextensible skin, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadotrophic hypogonadism, Hypoplasia of the ovary, Hyposmia, Hypospadias, Intellectual disability, mild, Intrauterine growth retardation, Joint hyperflexibility, Juvenile myelomonocytic leukemia, Kyphoscoliosis, Limited elbow movement, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Lymphedema, Male infertility, Mandibular prognathia, Melanocytic nevus, Micrognathia, Micropenis, Midface retrusion, Missing ribs, Mitral valve prolapse, Multiple digital exostoses, Multiple enchondromatosis, Multiple lentigines, Muscle weakness, Muscular hypotonia, Myopia, Neurofibrosarcoma, Parietal bossing, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pectus excavatum of inferior sternum, Posteriorly rotated ears, Postnatal growth retardation, Proptosis, Protruding ear, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Radial deviation of finger, Reduced factor XII activity, Reduced factor XIII activity, Scapular winging, Scoliosis, Sensorineural hearing impairment, Severe sensorineural hearing impairment, Shield chest, Short neck, Short stature, Somatic mutation, Spina bifida occulta, Sprengel anomaly, Strabismus, Subvalvular aortic stenosis, Superior pectus carinatum, Synovitis, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Third degree atrioventricular block, Triangular face, Unilateral renal agenesis, Ventricular septal defect, Webbed neck, Wide intermamillary distance, Wide nasal bridge
RG-div1	MED29	0.632728707	4.35E-05	Transcription regulatory protein	BrainSpLMD|55588	OMIM|612914
RG-div1	MTFR1	0.338898501	4.37E-05	Unclassified	BrainSpLMD|9650	
RG-div1	PMM1	0.701010172	4.39E-05	Enzyme: Mutase	BrainSpLMD|5372;Eurexp|euxassay_011907|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X	OMIM|601786
RG-div1	NCK1	0.328180723	4.49E-05	Adapter molecule	BrainSpLMD|4690	OMIM|600508
RG-div1	SRPR	0.534901632	4.65E-05			
RG-div1	FAM21C	0.382917802	4.69E-05			
RG-div1	USP6NL	0.626891897	4.81E-05	GTPase activating protein	BrainSpLMD|9712	OMIM|605405
RG-div1	ZNF410	0.28695517	4.87E-05	Transcription factor	BrainSpLMD|57862	
RG-div1	HSPA4	0.251503782	4.97E-05	Chaperone	BrainSpLMD|3308	OMIM|601113
RG-div1	PPP2R5D	0.562024527	4.99E-05	Serine/threonine phosphatase	BrainSpLMD|5528	SFARI||Autism, 4 - Minimal evidence;OMIM|601646;HPO|5528|Autosomal dominant inheritance, Chronic diarrhea, Congenital hip dislocation, Congenital muscular torticollis, Deeply set eye, Downslanted palpebral fissures, Facial hypotonia, Generalized hypotonia, Global developmental delay, Hydrocephalus, Hypertelorism, Hypoglycemia, Intellectual disability, Macrocephaly, Myopia, Narrow forehead, Open mouth, Pyloric stenosis, Seizures, Strabismus, Ventriculomegaly
RG-div1	GABPA	0.328130266	5.18E-05	Transcription factor	BrainSpLMD|2551;BrainSpMouseDev|14166	OMIM|600609
RG-div1	SNRNP25	0.453467806	5.23E-05	Ubiquitin proteasome system protein	BrainSpLMD|79622	
RG-div1	SLC16A1.AS1	0.729424459	5.42E-05			
RG-div1	ZDHHC15	0.296568097	5.52E-05	Enzyme: Palmitoyltransferase;Integral membrane protein	BrainSpLMD|158866	OMIM|300576;HPO|158866|Abnormal facial shape, Absent speech, Cubitus valgus, Epicanthus, Global developmental delay, High palate, Intellectual disability, mild, Low posterior hairline, Macrodontia, Obesity, Seizures, Severe muscular hypotonia, Short 5th finger, Short foot, Short nose, Small hand, X-linked dominant inheritance, X-linked inheritance
RG-div1	C12orf49	1.547946224	5.53E-05	Unclassified	BrainSpLMD|79794;Eurexp|euxassay_006358|olfactory	
RG-div1	UBBP4	0.309744233	5.54E-05			
RG-div1	GPAM	0.286176517	5.62E-05	Enzyme: Acyltransferase	BrainSpLMD|57678;Eurexp|euxassay_018573|left, right, ventricular layer	OMIM|602395
RG-div1	RBM12	0.382813346	5.74E-05	RNA binding protein		OMIM|607179
RG-div1	GOT1	0.339338078	5.98E-05	Enzyme: Aminotransferase	BrainSpLMD|2805;Eurexp|euxassay_018495|adrenal gland, brain, cortex, diaphragm, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, oral epithelium, spinal cord, stroma, thymus primordium, trigeminal V, vagus X, ventricle, vertebral axis muscle system	OMIM|138180
RG-div1	ZNF830	0.371272089	6.10E-05	Unclassified	BrainSpLMD|91603;Eurexp|euxassay_018059|submandibular gland primordium	
RG-div1	FLNB	0.740491805	6.15E-05	Cytoskeletal associated protein	BrainSpLMD|2317;Eurexp|euxassay_014002|axial skeleton, clavicle, exoccipital bone, incisor, mandible, maxilla, mesenchyme, metatarsus, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, palatal shelf, phalanx, sternum, submandibular gland primordium, temporal bone, thymus primordium, thyroid, trachea, turbinate, ventricular layer, vibrissa	OMIM|603381;HPO|2317|11 pairs of ribs, Abnormality of femur morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the humerus, Abnormality of the metacarpal bones, Abnormality of the radius, Abnormality of tibia morphology, Absent radius, Accessory carpal bones, Aortic dilatation, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the ulna, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Beaking of vertebral bodies, Bipartite calcaneus, Block vertebrae, Brachydactyly, Broad distal phalanx of finger, Broad face, Broad nasal tip, Broad thumb, Bronchomalacia, C2-C3 subluxation, Carpal synostosis, Cataract, Cervical kyphosis, Cervical segmentation defect, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Club-shaped proximal femur, Clubbing, Conductive hearing impairment, Corneal opacity, Coronal cleft vertebrae, Cryptorchidism, Delayed skeletal maturation, Depressed nasal bridge, Dislocated wrist, Disproportionate short-trunk short stature, Distal tapering femur, Elbow dislocation, Encephalocele, Epiphyseal dysplasia, Fibular aplasia, Finger syndactyly, Flat acetabular roof, Flat face, Frontal bossing, Fused cervical vertebrae, Growth hormone deficiency, Hip dislocation, Hitchhiker thumb, Horizontal sacrum, Hydrops fetalis, Hyperlordosis, Hypertelorism, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Hypoplastic cervical vertebrae, Hypoplastic iliac body, Hypoplastic nasal septum, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Knee dislocation, Large joint dislocations, Laryngeal stenosis, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Mixed hearing impairment, Multinucleated giant chondrocytes in epiphyseal cartilage, Multiple carpal ossification centers, Narrow chest, Neonatal death, Omphalocele, Pectus carinatum, Pectus excavatum, Pes planus, Polyhydramnios, Poorly ossified vertebrae, Preauricular skin tag, Premature birth, Prominent forehead, Prominent occiput, Proptosis, Radial bowing, Rarefaction of retinal pigmentation, Renal cyst, Restrictive ventilatory defect, Rhizomelia, Sandal gap, Scoliosis, Severe short stature, Severe short-limb dwarfism, Shallow orbits, Short distal phalanx of finger, Short femur, Short humerus, Short metacarpal, Short metatarsal, Short nail, Short neck, Short nose, Short stature, Spatulate thumbs, Spina bifida occulta, Spinal cord compression, Spondylolysis, Sporadic, Stillbirth, Talipes equinovalgus, Talipes equinovarus, Tarsal synostosis, Thoracic platyspondyly, Tibial bowing, Tombstone-shaped proximal phalanges, Tracheal stenosis, Tracheomalacia, Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Widened distal phalanges
RG-div1	SEC23B	0.80749453	6.48E-05	Transport/cargo protein	BrainSpLMD|10483	OMIM|610512;HPO|10483|Abnormality of the penis, Adenoma sebaceum, Anemia of inadequate production, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast carcinoma, Cavernous hemangioma, Cholelithiasis, Cognitive impairment, Colorectal polyposis, Conjunctival hamartoma, Ductal carcinoma in situ, Endopolyploidy on chromosome studies of bone marrow, Furrowed tongue, Generalized hyperkeratosis, Global developmental delay, Goiter, Hamartomatous polyposis, Hashimoto thyroiditis, Hemangioma, Intellectual disability, Intestinal polyposis, Jaundice, Lipoma, Macrocephaly, Macroglossia, Macule, Melanocytic nevus, Meningioma, Mucosal telangiectasiae, Palmoplantar keratoderma, Papilloma, Papule, Reduced activity of N-acetylglucosaminyltransferase II, Reticulocytosis, Splenomegaly, Subcutaneous nodule, Trichilemmoma
RG-div1	GCN1L1	0.395252846	6.70E-05			
RG-div1	TECRP1	0.391409691	6.75E-05			
RG-div1	PELI1	0.325039385	6.83E-05	Adapter molecule	BrainSpLMD|57162;Eurexp|euxassay_011663|cortex, forebrain, hindbrain, incisor, lung, marginal layer, midbrain, molar, neural retina, olfactory, spinal cord, submandibular gland primordium, thymus primordium, vibrissa, vomeronasal organ	OMIM|614797
RG-div1	DHDDS	0.838407595	7.03E-05	Enzyme: Prenyltransferase	BrainSpLMD|79947	OMIM|608172;HPO|79947|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
RG-div1	LYPLAL1	0.39290681	7.34E-05	Unclassified	BrainSpLMD|127018	OMIM|616548
RG-div1	SNX18	0.557059957	7.53E-05	Transport/cargo protein	BrainSpLMD|112574;Eurexp|euxassay_012165|bladder, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, metanephros, trigeminal V, vestibulocochlear VIII	
RG-div1	SNX7	0.28412377	7.87E-05	Unclassified	BrainSpLMD|51375	OMIM|614904
RG-div1	PLEKHJ1	0.598959457	8.12E-05	Guanine nucleotide exchange factor	BrainSpLMD|55111	
RG-div1	PDE6D	0.457398079	8.30E-05	Regulatory/other subunit	BrainSpLMD|5147	OMIM|602676;HPO|5147|Abnormal facial shape, Autosomal recessive inheritance, Coloboma, Global developmental delay, Intrauterine growth retardation, Microphthalmia, Molar tooth sign on MRI, Postaxial hand polydactyly, Renal hypoplasia, Retinal dysplasia, Syndactyly, Undetectable electroretinogram
RG-div1	MYNN	0.315007786	8.49E-05	Transcription factor	BrainSpLMD|55892;Eurexp|euxassay_007036|embryo	OMIM|606042
RG-div1	NOSIP	1.062988159	8.72E-05	Transport/cargo protein	BrainSpLMD|51070	OMIM|616759
RG-div1	CD99L2	0.594751107	9.47E-05	Integral membrane protein	BrainSpLMD|83692;Eurexp|euxassay_014811|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|300846
RG-div1	TADA1	0.290148854	9.58E-05	DNA binding protein	BrainSpLMD|117143	OMIM|612763
RG-div1	TWF1	0.507130126	9.80E-05	Tyrosine kinase	BrainSpLMD|5756;Eurexp|euxassay_018637|olfactory	OMIM|610932
RG-div1	UBAC2	0.25735765	9.85E-05	Unclassified	BrainSpLMD|337867	HPO|337867|Abdominal pain, Abnormal blistering of the skin, Acne, Arthralgia, Arthritis, Confusion, Fatigue, Fever, Gait disturbance, Gastrointestinal hemorrhage, Hemiparesis, Immunologic hypersensitivity, Meningitis, Migraine, Myalgia, Nausea and vomiting, Oral ulcer, Orchitis, Papule, Photophobia, Recurrent aphthous stomatitis, Subcutaneous nodule, Vasculitis, Venous thrombosis
RG-div1	RGPD6	0.276830536	9.95E-05	Unclassified		OMIM|612709
RG-div1	CSNK1G1	0.735447116	0.000101279	Serine/threonine kinase	BrainSpLMD|53944;BrainSpMouseDev|84736	OMIM|606274
RG-div1	ZDHHC5	0.480198329	0.00010608	Integral membrane protein	BrainSpLMD|25921	OMIM|614586
RG-div1	SEC23IP	0.515704841	0.000106147	Transport/cargo protein	BrainSpLMD|11196	
RG-div1	HYOU1	0.289819755	0.000108178	Chaperone	BrainSpLMD|10525	OMIM|601746
RG-div1	GTPBP10	0.2938835	0.000115465	RNA binding protein	BrainSpLMD|85865	OMIM|610920
RG-div1	ELMOD2	0.440143242	0.000129106	Unclassified	BrainSpLMD|255520	OMIM|610196
RG-div1	CPSF3L	0.299453793	0.000129134			
RG-div1	ERCC6L2	0.861031273	0.000130167	Unclassified;RNA helicase	BrainSpLMD|375748	OMIM|615667;HPO|375748|Anemia, Autosomal recessive inheritance, Bone marrow hypocellularity, Leukopenia, Microcephaly, Neonatal hypotonia, Thrombocytopenia
RG-div1	DDX50	0.305183949	0.000134349	RNA binding protein	BrainSpLMD|79009;Eurexp|euxassay_005899|embryo	OMIM|610373
RG-div1	DGKH	0.338560961	0.000136625	Lipid Kinase	BrainSpLMD|160851;Eurexp|euxassay_009546|dorsal root ganglion, glossopharyngeal IX, neural retina, trigeminal V, vagus X	OMIM|604071
RG-div1	SLBP	0.322346206	0.000139283	RNA binding protein	BrainSpLMD|7884;Eurexp|euxassay_009988|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|602422
RG-div1	STAT5B	0.435841635	0.000143905	Transcription factor	BrainSpLMD|6777;Eurexp|euxassay_019576|liver, mantle layer, thymus primordium;BrainSpMouseDev|20613	OMIM|604260;COSMIC||large granular lymphocytic leukaemia, skin basal cell, APL, IPEX-like syndrome;HPO|6777|Growth hormone deficiency, Respiratory distress, Severe short stature
RG-div1	ZNF682	0.251948099	0.000144305	Transcription regulatory protein	BrainSpLMD|91120	
RG-div1	HDAC8	0.499711064	0.000144694	Transcription regulatory protein	BrainSpLMD|55869;Eurexp|euxassay_006901|epithelium, proventricular region, stomach, ventricular layer	OMIM|300269;HPO|55869|Abnormal facial shape, Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Broad nasal tip, Clinodactyly of the 5th finger, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Deeply set eye, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downturned corners of mouth, Elbow dislocation, Emotional lability, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, Gynecomastia, High palate, Highly arched eyebrow, Hypertonia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Malar prominence, Microcephaly, Microcornea, Micrognathia, Micromelia, Microtia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Pes cavus, Pes planus, Phthisis bulbi, Poor speech, Premature birth, Prominent supraorbital ridges, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Synophrys, Tapered finger, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Truncal obesity, Vesicoureteral reflux, Widely spaced teeth
RG-div1	CCDC77	0.474734993	0.000146882	Unclassified	BrainSpLMD|84318	
RG-div1	TCEA2	0.475240045	0.000149936	Transcription factor	BrainSpLMD|6919	OMIM|604784
RG-div1	POLR2M	0.574995494	0.000150189	Unclassified	BrainSpMouseDev|27759	OMIM|606485
RG-div1	NME7	0.360906309	0.000151041	Enzyme: Phosphotransferase	BrainSpLMD|29922;Eurexp|euxassay_003414|4th ventricle, incisor, lung, metanephros, molar, olfactory, oral cavity, oral epithelium, oral region, pancreas, pharyngo-tympanic tube, respiratory, submandibular gland primordium, tongue, ventricular layer, vibrissa	OMIM|613465
RG-div1	METAP1	0.346958233	0.000151125	Aminopeptidase	BrainSpLMD|23173	OMIM|610151
RG-div1	MGRN1	0.471835254	0.000153445	Ubiquitin proteasome system protein	BrainSpLMD|23295;Eurexp|euxassay_007472|embryo	OMIM|607559
RG-div1	HUS1	0.318215348	0.000153633	Cell cycle control protein	BrainSpLMD|3364;Eurexp|euxassay_012664|choroid plexus, submandibular gland primordium, ventricular layer	OMIM|603760
RG-div1	RAB28	0.368995719	0.000155189	GTPase	BrainSpLMD|9364;Eurexp|euxassay_004499|mesenchyme, naris, sternum, turbinate bones	OMIM|612994;HPO|9364|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal recessive inheritance, Central scotoma, Cone/cone-rod dystrophy, Foveal hyperpigmentation, Nyctalopia, Photophobia, Severe Myopia
RG-div1	NNT	0.330869558	0.000155445	Enzyme: Oxidoreductase	BrainSpLMD|23530;Eurexp|euxassay_007280|diaphragm, left lung, oesophagus, right lung, skeletal muscle, vertebral axis muscle system	OMIM|607878;HPO|23530|Autosomal recessive inheritance, Failure to thrive, Hypoglycemia
RG-div1	NRBP1	0.501412672	0.000169365	Adapter molecule	BrainSpLMD|29959	OMIM|606010
RG-div1	GPR107	0.380830422	0.000169451	G protein coupled receptor	BrainSpLMD|57720	
RG-div1	USP37	0.534500922	0.000187617	Ubiquitin proteasome system protein	BrainSpLMD|57695	
RG-div1	HDAC4	0.567438935	0.000189407	Transcription regulatory protein	BrainSpLMD|9759;Eurexp|euxassay_006864|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, thymus primordium, thyroid, trigeminal V, vagus X, vibrissa	SFARI||Autism, No category;OMIM|605314;HPO|9759|Anteverted nares, Bilateral single transverse palmar creases, Brachydactyly, Broad columella, Clinodactyly of the 5th finger, Deeply set eye, Depressed nasal bridge, Downturned corners of mouth, Eczema, Finger syndactyly, Frontal bossing, Global developmental delay, Highly arched eyebrow, Intellectual disability, Joint hyperflexibility, Microcephaly, Midface retrusion, Muscular hypotonia, Obesity, Round face, Seizures, Short foot, Short metacarpal, Short palm, Short stature, Small hand, Sparse and thin eyebrow, Sparse scalp hair, Supernumerary nipple, Thin vermilion border, Toe syndactyly, Umbilical hernia, Underdeveloped nasal alae, Upslanted palpebral fissure, Wide intermamillary distance
RG-div1	BRPF3	0.311699989	0.000189508	DNA binding protein	Eurexp|euxassay_014369|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, brain, clavicle, femur, fibula, humerus, hyoid bone, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rest of mesenchyme, rib, scapula, spinal cord, tibia, turbinate bones;BrainSpMouseDev|92623	OMIM|616856
RG-div1	UAP1	0.435217676	0.000194535	Enzyme: Phosphorylase	BrainSpLMD|6675	OMIM|602862
RG-div1	IARS2	0.38416123	0.000195917	-	BrainSpLMD|55699;Eurexp|euxassay_005121|embryo	OMIM|612801;HPO|55699|Achalasia, Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Cataract, Cervical spinal canal stenosis, Congenital cataract, Congenital hip dislocation, Depressed nasal bridge, Distal sensory impairment, Fasting hypoglycemia, Flexion contracture, Genu valgum, Growth hormone deficiency, Hip dislocation, Hyporeflexia, Long philtrum, Motor delay, Narrow mouth, Nystagmus, Osteopenia, Periarticular subcutaneous nodules, Peripheral neuropathy, Prelingual sensorineural hearing impairment, Progressive sensorineural hearing impairment, Prominent forehead, Scoliosis, Sensorimotor neuropathy, Sensorineural hearing impairment, Sensory neuropathy, Short stature, Spinal canal stenosis, Spondyloepiphyseal dysplasia, Thick eyebrow, Thoracic kyphoscoliosis
RG-div1	SDHA	0.369041319	0.00019762	Enzyme: Dehydrogenase	BrainSpLMD|6389	OMIM|600857;COSMIC||GIST, paraganglioma, paraganglioma;HPO|6389|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, CNS demyelination, Cognitive impairment, Constipation, Decreased activity of mitochondrial complex II, Developmental regression, Dilated cardiomyopathy, Dysarthria, Dysphagia, Dystonia, Emotional lability, Exercise intolerance, Failure to thrive, Fatigue, Flexion contracture, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased intramyocellular lipid droplets, Increased serum lactate, Infantile onset, Intellectual disability, Intestinal obstruction, Lactic acidosis, Left ventricular noncompaction, Leukoencephalopathy, Mitochondrial inheritance, Muscle weakness, Myoclonus, Nausea and vomiting, Neonatal hypotonia, Neoplasm of the stomach, Nystagmus, Ophthalmoplegia, Optic atrophy, Paraganglioma, Phenotypic variability, Pigmentary retinopathy, Progressive, Progressive leukoencephalopathy, Ptosis, Ragged-red muscle fibers, Respiratory failure, Sarcoma, Seizures, Sensorineural hearing impairment, Short stature, Spasticity, Strabismus, Stress/infection-induced lactic acidosis, Visual impairment
RG-div1	STX2	0.315259743	0.000198685	Transport/cargo protein	BrainSpLMD|2054;Eurexp|euxassay_004202|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, olfactory, thoracic, trigeminal V	OMIM|132350
RG-div1	MRPS27	0.322794454	0.000203374	Ribosomal subunit	BrainSpLMD|23107;Eurexp|euxassay_019261|adrenal gland, axial muscle, cervical, cervico-thoracic, dorsal root ganglion, embryo, facial VII, glossopharyngeal IX, incisor, liver, lung, mantle layer, marginal layer, metanephros, midgut, molar, neural retina, olfactory, pancreas, pharyngo-tympanic tube, pituitary, stomach, submandibular gland primordium, testis, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|611989
RG-div1	TMEM165	0.347455295	0.000212554	Unclassified	BrainSpLMD|55858	OMIM|614726;HPO|55858|Abnormality of the cerebral white matter, Autosomal recessive inheritance, Diaphyseal dysplasia, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Epiphyseal dysplasia, Failure to thrive, Generalized hypotonia, Global developmental delay, Hepatomegaly, Joint laxity, Kyphoscoliosis, Low-set ears, Metaphyseal dysplasia, Muscle weakness, Osteoporosis, Phenotypic variability, Posteriorly rotated ears, Postnatal microcephaly, Short stature, Thrombocytopenia
RG-div1	PYGB	0.383136006	0.000214277	Enzyme: Phosphorylase	BrainSpLMD|5834	OMIM|138550
RG-div1	HNRNPKP4	0.346806498	0.000219271			
RG-div1	MAP1A	0.329995856	0.000219997	Cytoskeletal associated protein	BrainSpLMD|4130	OMIM|600178
RG-div1	SPDYE6	0.743152452	0.000220935			
RG-div1	KLF3	0.618756924	0.000224941	Transcription regulatory protein	BrainSpLMD|51274	OMIM|609392
RG-div1	NUDT9	0.401465483	0.000227601	Enzyme: Phosphatase	BrainSpLMD|53343	OMIM|606022
RG-div1	ASCC3	0.577770202	0.000249652	Unclassified	BrainSpLMD|10973	OMIM|614217
RG-div1	MRPS33	0.279286753	0.000276153	Ribosomal subunit	BrainSpLMD|51650	OMIM|611993
RG-div1	FAM96B	0.298367539	0.000299845	Unclassified	BrainSpLMD|51647	OMIM|614778
RG-div1	C4orf33	0.363037982	0.000301847	Unclassified	BrainSpLMD|132321	
RG-div1	PRKAR2A	0.380275527	0.000317974	Serine/threonine kinase	BrainSpLMD|5576	OMIM|176910
RG-div1	ZNF740	0.280462333	0.000320041	DNA binding protein	BrainSpLMD|283337	
RG-div1	CCDC43	0.447084368	0.000338317	Unclassified	BrainSpLMD|124808	
RG-div1	CAST	0.448675484	0.000339577	Protease inhibitor	BrainSpLMD|831	OMIM|114090;HPO|831|Angular cheilitis, Autosomal recessive inheritance, Epidermal acanthosis, Leukonychia, Palmoplantar keratoderma, Scaling skin
RG-div1	MMD	0.374983289	0.000376218	Integral membrane protein	BrainSpLMD|23531;Eurexp|euxassay_002968|Meckel's cartilage, axial skeleton, bladder, dorsal root ganglion, facial VII, foregut-midgut junction, glossopharyngeal IX, head mesenchyme, hindgut, incisor, limb, midgut, molar, nasal capsule, neural retina, oesophagus, olfactory, pectoral girdle and thoracic body wall, rectum, retina, rib, stomach, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|604467
RG-div1	WDR45B	0.271023815	0.000378782	Unclassified	BrainSpLMD|56270	OMIM|609226
RG-div1	STAM2	0.478825914	0.000389315	Adapter molecule	BrainSpLMD|10254;Eurexp|euxassay_016355|cornea, epidermis, incisor, molar, urethra, vibrissa	OMIM|606244
RG-div1	RBM12B	0.336441269	0.000428057	Unclassified	BrainSpLMD|389677;Eurexp|euxassay_011966|olfactory	
RG-div1	EIF4ENIF1	0.604542348	0.000431397	Translation regulatory protein	BrainSpLMD|56478	OMIM|607445
RG-div1	SLC35A3	0.348305526	0.000438503	Membrane transport protein	BrainSpLMD|23443	SFARI||Autism, No category;OMIM|605632;HPO|23443|Arthrogryposis multiplex congenita, Autistic behavior, Autosomal recessive inheritance, Camptodactyly of finger, Generalized hypotonia, Global developmental delay, Hip dislocation, Intellectual disability, Intellectual disability, mild, Knee dislocation, Microcephaly, Microretrognathia, Seizures
RG-div1	RC3H2	0.308513537	0.000512648	DNA binding protein	BrainSpLMD|54542	OMIM|615231
RG-div1	FARP2	0.357186621	0.000540339	Cytoskeletal protein	BrainSpLMD|9855	OMIM|617586
RG-div1	KLHL2	0.361237026	0.000567679	Cytoskeletal associated protein	BrainSpLMD|11275	OMIM|605774
RG-div1	CDC40	0.262810753	0.000574215	Transcription regulatory protein	BrainSpLMD|51362;Eurexp|euxassay_012662|choroid plexus, floorplate, olfactory	OMIM|605585
RG-div1	ETV3	0.714504046	0.000577615	Transcription factor	BrainSpLMD|2117;BrainSpMouseDev|26794	OMIM|164873
RG-div1	ZNF664	0.314360725	0.000582726	Transcription regulatory protein	BrainSpLMD|144348;Eurexp|euxassay_010335|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, inner ear, left lung, metanephros, molar, neural retina, olfactory, pharyngo-tympanic tube, right lung, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	
RG-div1	CPD	0.362237814	0.00060388	Carboxypeptidase	BrainSpLMD|1362;Eurexp|euxassay_018661|penis, submandibular gland primordium	OMIM|603102
RG-div1	PPRC1	0.379755447	0.000607819	Transcription regulatory protein	BrainSpLMD|23082	OMIM|617462
RG-div1	INTS2	0.397042055	0.000639412	Unclassified	BrainSpLMD|57508	OMIM|611346
RG-div1	ARHGAP33	0.795275188	0.000707037	Unclassified	BrainSpLMD|115703	SFARI||Autism, 5 - Hypothesized but untested;OMIM|614902
RG-div1	COIL	0.276602801	0.000765756	RNA binding protein	BrainSpLMD|8161;Eurexp|euxassay_013629|dorsal grey horn, mantle layer	OMIM|600272
RG-div1	C8orf33	0.291308288	0.000790204	Unclassified	BrainSpLMD|65265	
RG-div1	SMN1	0.303826084	0.00080992	RNA binding protein		OMIM|600354;HPO|6606|Adult onset, Areflexia, Areflexia of lower limbs, Atrial septal defect, Autosomal recessive inheritance, Decreased fetal movement, Degeneration of anterior horn cells, EMG abnormality, EMG: neuropathic changes, Hand tremor, Hyporeflexia, Limb fasciculations, Muscle cramps, Muscle weakness, Progressive, Proximal amyotrophy, Proximal muscle weakness, Proximal muscle weakness in lower limbs, Recurrent respiratory infections, Respiratory failure, Slow progression, Spinal muscular atrophy, Tongue fasciculations, Ventricular septal defect
RG-div1	MSH3	0.340244704	0.000827431	-	BrainSpLMD|4437	OMIM|600887;HPO|4437|Astrocytoma, Autosomal recessive inheritance, Endometrial carcinoma, Stomach cancer, Thyroid adenoma
RG-div1	PEX13	0.399968174	0.000844927	Integral membrane protein	BrainSpLMD|5194	OMIM|601789;HPO|5194|Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the liver, Abnormality of the palate, Anteverted nares, Apnea, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, CNS hypomyelination, Cataract, Central hypotonia, Chorioretinal abnormality, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Death in infancy, Decreased liver function, Depressed nasal bridge, Developmental regression, Dolichocephaly, EEG abnormality, Elevated hepatic transaminases, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Global developmental delay, Hearing impairment, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypospadias, Infantile muscular hypotonia, Jaundice, Large face, Lissencephaly, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Multiple renal cysts, Muscular hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Polymicrogyria, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Respiratory insufficiency, Respiratory tract infection, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Skeletal dysplasia, Spasticity, Strabismus, Triangular face, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Very long chain fatty acid accumulation, Visual impairment, Visual loss, Wide anterior fontanel, Wide nasal bridge
RG-div1	ZNF561	0.370996582	0.000852879	Unclassified	BrainSpLMD|93134	
RG-div1	HACL1	0.275787881	0.000859291	Enzyme: Lyase	BrainSpLMD|26061;Eurexp|euxassay_009209|4th ventricle, calyces, choroid fissure, choroid plexus, ventricular layer	OMIM|604300
RG-div1	EIF2B4	1.104528794	0.000881248	Translation regulatory protein	BrainSpLMD|8890	OMIM|606687;HPO|8890|Autosomal recessive inheritance, CNS demyelination, Cerebral hypomyelination, Cessation of head growth, Decreased circulating progesterone, Delusions, Developmental regression, Dysarthria, Emotional lability, Generalized hypotonia, Juvenile onset, Lethargy, Leukoencephalopathy, Macrocephaly, Memory impairment, Optic atrophy, Personality changes, Premature ovarian insufficiency, Primary gonadal insufficiency, Secondary amenorrhea, Seizures, Spasticity, Unsteady gait
RG-div1	KANSL1L	0.326586048	0.000949895	Unclassified	BrainSpLMD|151050	OMIM|613833
RG-div1	BAP1	0.519836096	0.000994681	Ubiquitin proteasome system protein	BrainSpLMD|8314	OMIM|603089;COSMIC||uveal melanoma, breast, NSCLC, RCC, mesothelioma, uveal melanoma;HPO|8314|Abnormality of the hair, Abnormality of the lymphatic system, Autosomal dominant inheritance, Choroidal melanoma, Ciliary body melanoma, Cutaneous melanoma, Dry skin, Freckling, Intraocular melanoma, Iris melanoma, Lung adenocarcinoma, Melanoma, Meningioma, Nevus, Retinal detachment, Visual loss
RG-div1	SAAL1	0.803363333	0.001018254	Unclassified	BrainSpLMD|113174	
RG-div1	APAF1	0.415816439	0.001023674	Adapter molecule	BrainSpLMD|317	OMIM|602233
RG-div1	CHM	0.278634885	0.001048181	Enzyme: Prenyltransferase	BrainSpLMD|1121;Eurexp|euxassay_002824|urethra	OMIM|300390;HPO|1121|Abnormal electroretinogram, Abnormality of retinal pigmentation, Chorioretinal atrophy, Chorioretinal degeneration, Choroideremia, Constriction of peripheral visual field, Myopia, Nyctalopia, Progressive visual loss, Visual impairment, X-linked dominant inheritance
RG-div1	ITCH	0.304820697	0.001092805	Ubiquitin proteasome system protein	BrainSpLMD|83737;Eurexp|euxassay_009772|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, trigeminal V, vestibulocochlear VIII, vomeronasal organ	OMIM|606409;HPO|83737|Abnormal facial shape, Autoimmunity, Autosomal recessive inheritance, Camptodactyly, Clinodactyly, Dolichocephaly, Frontal bossing, Global developmental delay, Hepatomegaly, Low-set ears, Posteriorly rotated ears, Prominent occiput, Proptosis, Relative macrocephaly, Short chin, Splenomegaly
RG-div1	CEP63	0.298828821	0.001115886	Unclassified	BrainSpLMD|80254;Eurexp|euxassay_012298|olfactory, vomeronasal organ	OMIM|614724;HPO|80254|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Delayed speech and language development, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
RG-div1	PI4KB	0.301382019	0.00117104	Lipid Kinase	BrainSpLMD|5298;Eurexp|euxassay_012081|vertebral axis muscle system	OMIM|602758
RG-div1	TACC1	0.345070866	0.001193053	Cell cycle control protein	BrainSpLMD|6867	OMIM|605301
RG-div1	GPR89A	0.401039943	0.00128758	G protein coupled receptor	Eurexp|euxassay_003481|clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, left, midgut, pancreas, right, stomach, submandibular gland primordium, thymus primordium, trigeminal V, ventral grey horn, vibrissa	OMIM|612821
RG-div1	VPS4A	0.362073841	0.00134591	ATPase	BrainSpLMD|27183	OMIM|609982
RG-div1	WDR19	0.279656411	0.001372439	Transport/cargo protein	BrainSpLMD|57728	OMIM|608151;HPO|57728|Abnormal diaphysis morphology, Abnormal toenail morphology, Abnormality of pelvic girdle bone morphology, Abnormality of retinal pigmentation, Abnormality of the clavicle, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Anteverted nares, Autosomal recessive inheritance, Brachydactyly, Broad distal phalanx of finger, Broad phalanx of the toes, Cataract, Chronic tubulointerstitial nephritis, Cone-shaped epiphysis, Craniosynostosis, Cutis laxa, Dolichocephaly, Ectodermal dysplasia, Elevated serum creatinine, Epicanthus, Everted lower lip vermilion, Finger syndactyly, Frontal bossing, Full cheeks, Global developmental delay, Hepatic cysts, Hip dysplasia, Hypermetropia, Hypertension, Hypodontia, Hypotelorism, Inguinal hernia, Joint hyperflexibility, Joint hypermobility, Metaphyseal widening, Microdontia, Micromelia, Myopia, Narrow chest, Nephronophthisis, Nephropathy, Osteoporosis, Pancreatic cysts, Pectus excavatum, Pes valgus, Premature ovarian insufficiency, Progressive visual loss, Prominent occiput, Proteinuria, Reduced visual acuity, Renal hypoplasia, Respiratory insufficiency, Retinal dystrophy, Rhizomelia, Rod-cone dystrophy, Short distal phalanx of finger, Short foot, Short iliac bones, Short stature, Short thorax, Skeletal dysplasia, Sparse hair, Stage 5 chronic kidney disease, Thin upper lip vermilion, Thoracic dysplasia, Visual impairment
RG-div1	ZNF639	0.292557405	0.001390043	Unclassified	BrainSpLMD|51193	
RG-div1	ARL5B	0.294881433	0.001433185	GTPase	BrainSpLMD|221079	OMIM|608909
RG-div1	ULK2	0.259674704	0.001461493	Growth factor	BrainSpLMD|9706	OMIM|608650
RG-div1	TBC1D19	0.625100999	0.001482842	Unclassified	BrainSpLMD|55296;Eurexp|euxassay_011544|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	
RG-div1	GOSR2	0.358127957	0.001536939	Membrane transport protein	BrainSpLMD|9570	OMIM|604027;HPO|9570|Absence seizures, Areflexia, Ataxia, Atonic seizures, Autosomal recessive inheritance, Difficulty walking, Dysarthria, Elevated serum creatine phosphokinase, Myoclonus, Progressive, Scoliosis, Tremor
RG-div1	ELAVL1	0.289367121	0.001666997	RNA binding protein	BrainSpLMD|1994	OMIM|603466
RG-div1	CAMSAP1	0.267218616	0.001708948	Unclassified	BrainSpLMD|157922	OMIM|613774
RG-div1	TAF1	0.301805792	0.00179753	DNA binding protein	BrainSpLMD|6872	SFARI||Autism, No category;OMIM|313650;HPO|6872|Adult onset, Broad chin, Broad nasal tip, Bulbous nose, Chorea, Congenital onset, Depressed nasal tip, Global developmental delay, Macrotia, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Prominent protruding coccyx, Proptosis, Protruding ear, Thickened helices, Torsion dystonia, Tremor, X-linked recessive inheritance
RG-div1	GLMN	0.430792752	0.001797698	Unclassified;Ligand	BrainSpLMD|11146	OMIM|601749;HPO|11146|Abnormality of metabolism/homeostasis, Abnormality of the skin, Autosomal dominant inheritance
RG-div1	TRPC1	0.577962673	0.001842456	Ion channel	BrainSpLMD|7220	OMIM|602343
RG-div1	CDC16	0.612158622	0.001924364	Cell cycle control protein	BrainSpLMD|8881	OMIM|603461
RG-div1	PPIAP29	0.31986268	0.001979646			
RG-div1	OTUD6B	0.289404819	0.002028644	Unclassified	BrainSpLMD|51633	OMIM|612021;HPO|51633|Autistic behavior, Autosomal recessive inheritance, Brachycephaly, Broad thumb, Cryptorchidism, Downslanted palpebral fissures, Failure to thrive, Feeding difficulties, Flat occiput, Flexion contracture, Generalized hypotonia, Global developmental delay, Hearing impairment, High palate, Highly arched eyebrow, Hypoplasia of the corpus callosum, Inability to walk, Intellectual disability, severe, Intrauterine growth retardation, Long eyelashes, Long face, Long palpebral fissure, Long philtrum, Low-set ears, Macrotia, Microcephaly, Overlapping toe, Phenotypic variability, Prominent nasal bridge, Protruding ear, Retrognathia, Sacral dimple, Scoliosis, Short neck, Short stature, Spastic tetraplegia, Talipes equinovarus, Tapered finger, Thin upper lip vermilion, Ventriculomegaly, Wide nasal bridge
RG-div1	RP11.737O24.3	0.322267211	0.002220043			
RG-div1	RP11.632C17__A.1	0.286127341	0.002402197			
RG-div1	TRIM27	0.334345246	0.002421575	DNA binding protein	BrainSpLMD|5987;Eurexp|euxassay_018270|embryo	OMIM|602165;COSMIC||papillary thyroid
RG-div1	ATP1A1	0.506403253	0.00253805	ATPase	BrainSpLMD|476;BrainSpMouseDev|11714	OMIM|182310;COSMIC||adrenal aldosterone producing adenoma
RG-div1	AP2A2	0.326236148	0.00301257	Transport/cargo protein	BrainSpLMD|161	OMIM|607242
RG-div1	ALG13	0.346481006	0.003030756	Unclassified	BrainSpLMD|79868	OMIM|300776;HPO|79868|Abnormality of extrapyramidal motor function, Anteverted nares, Cerebral atrophy, Delayed myelination, Generalized hypotonia, Global developmental delay, Hepatomegaly, Horizontal nystagmus, Hypertelorism, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, Intellectual disability, severe, Long philtrum, Low-set ears, Microcephaly, Optic atrophy, Poor eye contact, Recurrent infections, Seizures, Type I transferrin isoform profile, X-linked dominant inheritance, X-linked recessive inheritance
RG-div1	REC8	0.431561708	0.003045082	Cell cycle control protein	BrainSpLMD|9985;Eurexp|euxassay_012260|cochlea, lung, mantle layer, metanephros, olfactory, ovary, pancreas, pituitary, stomach, thyroid, trigeminal V, urethra, ventral grey horn, ventricular layer	OMIM|608193
RG-div1	PMM2	0.428641982	0.003073617	Enzyme: Mutase	BrainSpLMD|5373	OMIM|601785;HPO|5373|Abnormal subcutaneous fat tissue distribution, Abnormality of the amniotic fluid, Ataxia, Autosomal recessive inheritance, Cardiomyopathy, Depressed nasal bridge, Diarrhea, Elevated hepatic transaminases, Esotropia, Failure to thrive, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism, Hypoalbuminemia, Hypocholesterolemia, Hyporeflexia, Hypothyroidism, IgA deficiency, IgG deficiency, Inverted nipples, Kyphosis, Macrotia, Microcephaly, Muscle weakness, Nephrotic syndrome, Nonimmune hydrops fetalis, Nystagmus, Olivopontocerebellar hypoplasia, Osteopenia, Pericardial effusion, Polyneuropathy, Premature ovarian insufficiency, Prolonged partial thromboplastin time, Prolonged prothrombin time, Prominent forehead, Proteinuria, Proximal tubulopathy, Reduced antithrombin III activity, Reduced factor XI activity, Renal cyst, Rod-cone dystrophy, Seizures, Stroke-like episode, Thin upper lip vermilion, Thrombocytosis, Type I transferrin isoform profile, Vomiting
RG-div1	MT.TY	0.351054843	0.003133063			
RG-div1	UBE2O	0.311292693	0.003187164	Ubiquitin proteasome system protein	BrainSpLMD|63893	OMIM|617649
RG-div1	COX15	0.484855765	0.003683803	Unclassified	BrainSpLMD|1355	OMIM|603646;HPO|1355|Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Decreased fetal movement, Dysarthria, Dystonia, Emotional lability, Encephalopathy, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatic steatosis, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Microcephaly, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
RG-div1	SLMAP	0.370932112	0.003714067	Unclassified	BrainSpLMD|7871	OMIM|602701
RG-div1	HEATR6	0.296076565	0.003732648	Unclassified	BrainSpLMD|63897	
RG-div1	RORB	0.497151596	0.004106667	Transcription factor	BrainSpLMD|6096;Eurexp|euxassay_002725|diencephalon, dorsal grey horn, hindbrain, marginal layer, midbrain, neural retina, ventricular layer;BrainSpMouseDev|86335	OMIM|601972
RG-div1	UQCC1	0.386693219	0.004162573	Unclassified	BrainSpLMD|55245	OMIM|611797
RG-div1	GNG4	0.461638816	0.004410472	G protein	BrainSpLMD|2786	OMIM|604388
RG-div1	LAMTOR1	0.98427697	0.00444047	Unclassified	BrainSpLMD|55004	OMIM|613510
RG-div1	HSP90B2P	0.66310731	0.0047109			
RG-div1	MED12	0.402868929	0.004934979	Transcription regulatory protein	BrainSpLMD|9968;BrainSpMouseDev|37587	SFARI||Autism, 6 - Evidence does not support role;OMIM|300188;COSMIC||uterine leiomyoma, fibroadenoma, phyllodes tumour, Opitz-Kaveggia Syndrome;HPO|9968|Abnormal heart morphology, Abnormality of the genitourinary system, Abnormality of the nasopharynx, Abnormality of the rib cage, Abnormality of the sternum, Abnormally folded helix, Agenesis of corpus callosum, Aggressive behavior, Anal atresia, Anal stenosis, Anteriorly placed anus, Aplasia/Hypoplasia of the corpus callosum, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad hallux, Broad thumb, Bulbous nose, Cafe-au-lait spot, Camptodactyly, Choanal atresia, Cleft palate, Cleft upper lip, Clinodactyly, Coarse facial features, Constipation, Cryptorchidism, Decreased body weight, Deep philtrum, Delayed closure of the anterior fontanelle, Dental crowding, Depressed nasal bridge, Dilatation of ascending aorta, Disproportionate tall stature, Downslanted palpebral fissures, Emotional lability, Epicanthus, Facial wrinkling, Feeding difficulties, Fine hair, Flexion contracture, Frontal bossing, Frontal upsweep of hair, Generalized hypotonia, Global developmental delay, Hearing impairment, Heterotopia, High forehead, High palate, High pitched voice, Hydrocephalus, Hyperactivity, Hypertelorism, Hypoplasia of the maxilla, Hypospadias, Impaired social interactions, Inguinal hernia, Intellectual disability, Intestinal malrotation, Joint contracture of the hand, Joint hyperflexibility, Joint hypermobility, Joint laxity, Long face, Long nose, Long philtrum, Low frustration tolerance, Low-set ears, Lumbar hyperlordosis, Macrocephaly, Macroorchidism, Micrognathia, Microtia, first degree, Motor delay, Multiple joint contractures, Muscular hypotonia, Narrow face, Narrow mouth, Narrow nasal bridge, Narrow palate, Nasal speech, Neonatal hypotonia, Neurological speech impairment, Obsessive-compulsive behavior, Open mouth, Partial agenesis of the corpus callosum, Pectus excavatum, Plagiocephaly, Postnatal macrocephaly, Prominent fingertip pads, Prominent forehead, Prominent nasal bridge, Prominent nose, Psychosis, Ptosis, Pyloric stenosis, Radial deviation of finger, Sacral dimple, Scoliosis, Scrotal hypoplasia, Seizures, Sensorineural hearing impairment, Short neck, Short philtrum, Short stature, Single transverse palmar crease, Skin tags, Smooth philtrum, Sparse hair, Split hand, Strabismus, Syndactyly, Thick lower lip vermilion, Thin upper lip vermilion, Thin vermilion border, Umbilical hernia, Ventricular septal defect, Wide anterior fontanel, Wide mouth, Wide nasal bridge, X-linked recessive inheritance
RG-div1	DPY19L3	0.31561247	0.005250911	Unclassified	BrainSpLMD|147991	OMIM|613894
RG-div1	STYX	0.561525494	0.005380902	Unclassified	BrainSpLMD|6815;Eurexp|euxassay_007130|embryo	OMIM|615814
RG-div1	SMN2	0.51470935	0.005474468	RNA binding protein		OMIM|601627
RG-div1	WIPF2	0.255507706	0.00590086	Cytoskeletal associated protein		OMIM|609692
RG-div1	DCUN1D5	0.302234195	0.006800513	Unclassified	BrainSpLMD|84259;Eurexp|euxassay_000073|Meckel's cartilage, basal plate, cervical, cervico-thoracic, cortex, cranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, mantle layer, molar, skeletal muscle, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, ventricular layer, vibrissa;BrainSpMouseDev|52703	OMIM|616522
RG-div1	GGCX	0.426641099	0.007571593	Enzyme: Carboxylase	BrainSpLMD|2677	OMIM|137167;HPO|2677|Abnormal bleeding, Abnormality of coagulation, Abnormality of the optic nerve, Absent retinal pigment epithelium, Angioid streaks of the retina, Atherosclerosis, Attenuation of retinal blood vessels, Autosomal recessive inheritance, Bruising susceptibility, Cutis laxa, Epiphyseal stippling, Epistaxis, Increased number of skin folds, Joint hemorrhage, Nyctalopia, Papule, Prolonged partial thromboplastin time, Reduced factor IX activity, Reduced factor VII activity, Reduced factor X activity, Reduced prothrombin activity, Redundant skin, Rod-cone dystrophy, Short distal phalanx of finger, Short nose, Strabismus
RG-div1	STK25	0.263657067	0.00773898	Serine/threonine kinase	BrainSpLMD|10494;Eurexp|euxassay_018643|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, testis, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602255
RG-div1	FBL	0.499783936	0.009669396	Ribonucleoprotein	BrainSpLMD|2091;Eurexp|euxassay_002909|submandibular gland primordium	OMIM|134795
OPC	BCAS1	6.822094822	0	Unclassified	BrainSpLMD|8537	SFARI||Autism, No category;OMIM|602968
OPC	LIMS2	5.220017887	0	Adapter molecule	BrainSpLMD|55679	OMIM|607908;HPO|55679|Autosomal recessive inheritance, Calf muscle hypertrophy, Childhood onset, Dilated cardiomyopathy, Elevated serum creatine phosphokinase, Increased connective tissue, Muscular dystrophy, Progressive, Reduced systolic function, Skeletal muscle atrophy, Talipes equinovarus, Tetraparesis, Triangular tongue
OPC	PCDH15	5.208726272	0	Adhesion molecule	BrainSpLMD|65217	SFARI||Autism, 4 - Minimal evidence;OMIM|605514;HPO|65217|Abnormal electroretinogram, Abnormality of cochlea, Aplasia/Hypoplasia of the cerebellum, Ataxia, Autosomal recessive inheritance, Cataract, Congenital sensorineural hearing impairment, Global developmental delay, Hearing impairment, Hemianopia, High-grade hypermetropia, Infantile onset, Intellectual disability, Iris hypopigmentation, Motor delay, Nyctalopia, Rod-cone dystrophy, Schizophrenia, Scotoma, Sensorineural hearing impairment, Vestibular dysfunction, Vestibular hypofunction, Visual loss
OPC	CLDN11	5.205722505	0	Cell junction protein	BrainSpLMD|5010;Eurexp|euxassay_006682|Meckel's cartilage, calyces, cortex, epithelium, mandible, maxilla, meninges, mesenchyme, metatarsus, pectoralis major, pectoralis minor, petrous part, posterior, trachea, turbinate bones, ureter;BrainSpMouseDev|18184	OMIM|601326
OPC	TF	5.189716295	0	Transport/cargo protein	BrainSpLMD|7018;Eurexp|euxassay_000652|lobe;BrainSpMouseDev|21798	OMIM|190000;HPO|7018|Abnormality of the liver, Anemia, Atransferrinemia, Autosomal recessive inheritance, Congestive heart failure, Hypochromic anemia, Recurrent infections
OPC	APOD	5.181610398	0	Transport/cargo protein	BrainSpLMD|347;Eurexp|euxassay_001865|Meckel's cartilage, body-wall mesenchyme, clavicle, cochlea, cochlear duct, intervertebral disc, lateral wall, lip, meninges, oral epithelium, penis, sacral region, turbinate bones, vibrissa;BrainSpMouseDev|11602	OMIM|107740
OPC	GPR17	5.103435084	0	G protein coupled receptor	BrainSpLMD|2840;Eurexp|euxassay_016541|mantle layer, stomach, ventral grey horn, ventricular layer	OMIM|603071
OPC	PDGFRA	5.069786808	0	Receptor tyrosine kinase	BrainSpLMD|5156;BrainSpMouseDev|18361	OMIM|173490;COSMIC||GIST, idiopathic hypereosinophilic syndrome, paediatric glioblastoma, GIST;HPO|5156|Abnormality of the nervous system, Autosomal dominant inheritance, Constipation, Dysphagia, Endocardial fibrosis, Eosinophilia, Fatigue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Hepatomegaly, Hyperpigmentation of the skin, Intestinal obstruction, Large hands, Myalgia, Myeloproliferative disorder, Nausea and vomiting, Neoplasm of the stomach, Neurofibromas, Pruritus, Pulmonary infiltrates, Restrictive cardiomyopathy, Sarcoma, Somatic mutation, Splenomegaly, Sporadic, Urticaria, Venous thrombosis
OPC	ERBB3	4.471066904	0	Receptor tyrosine kinase	BrainSpLMD|2065;Eurexp|euxassay_013512|bladder, diaphragm, epithelium, extraembryonic component, footplate, glossopharyngeal IX, left lung, midgut, oesophagus, olfactory, paraxial mesenchyme, rest of mesenchyme, right lung, skeletal muscle, stomach, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|13645	OMIM|190151;COSMIC||colon, gastric, head and neck, bladder, skin;HPO|2065|Akinesia, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Decreased fetal movement, Degenerative vitreoretinopathy, Edema, Hydronephrosis, Micrognathia, Polyhydramnios, Respiratory failure, Severe Myopia, Skeletal muscle atrophy
OPC	UGT8	4.360807895	0	Enzyme: Glycosyltransferase	BrainSpLMD|7368	OMIM|601291
OPC	PMP2	4.333390553	0	Transport/cargo protein	BrainSpLMD|5375	OMIM|170715
OPC	S100B	4.083165201	0	Calcium binding protein	BrainSpLMD|6285;BrainSpMouseDev|19966	OMIM|176990
OPC	LHFPL3	4.055686406	0	Unclassified	BrainSpLMD|375612;Eurexp|euxassay_011531|mantle layer	OMIM|609719
OPC	B3GNT7	3.868973078	0	Enzyme: Galactosyltransferase	BrainSpLMD|93010	OMIM|615313
OPC	DOCK10	3.768308424	0	Unclassified	BrainSpLMD|55619;Eurexp|euxassay_011695|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thymus primordium, thyroid, trigeminal V, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|611518
OPC	LUZP2	3.73886632	0	Unclassified	BrainSpLMD|338645;Eurexp|euxassay_015946|marginal layer, ventricular layer	OMIM|608178
OPC	KANK1	3.704727479	0	Unclassified	BrainSpLMD|23189;Eurexp|euxassay_008605|alar columns, anterior, aorta, arytenoid, axial skeleton, basioccipital bone, basisphenoid bone, brain, cartilaginous ring, choroid invagination, choroid plexus, cortex, cricoid, epidermis, floor plate, floorplate, footplate, handplate, incisor, mandible, maxilla, mesenchyme, molar, naris, nasal septum, orbito-sphenoid, pelvic girdle, petrous part, rib, roof plate, skeletal muscle, spinal cord, sternum, stomach, submandibular gland primordium, thyroid, trabeculae carneae, turbinate bones, valve, ventricular layer, vibrissa	SFARI||Autism, No category;OMIM|607704;HPO|23189|Autosomal dominant inheritance with maternal imprinting, Cerebral atrophy, Cerebral palsy, Intellectual disability, Muscular hypotonia, Spastic tetraplegia, Ventriculomegaly
OPC	CA10	3.687181056	0	Enzyme: Carbonic anhydrase	BrainSpLMD|56934;Eurexp|euxassay_018928|dorsal root ganglion, glossopharyngeal IX, trigeminal V;BrainSpMouseDev|48446	OMIM|604642
OPC	AFAP1L2	3.661788161	0	Adapter molecule	BrainSpLMD|84632;Eurexp|euxassay_003397|dorsal root ganglion, glossopharyngeal IX, hindgut, loop, marginal layer, medullary stroma, midgut, oesophagus, rectum, stomach, trigeminal V, ventricular layer, vestibulocochlear VIII	OMIM|612420
OPC	LRRK2	3.623060583	0	Unclassified	BrainSpMouseDev|42568	OMIM|609007
OPC	OLIG1	3.604695832	0	Transcription factor	BrainSpLMD|116448;Eurexp|euxassay_007237|mantle layer, marginal layer, olfactory, ventricular layer;BrainSpMouseDev|30398	OMIM|606385
OPC	TNR	3.550842627	0	Extracellular matrix protein	BrainSpLMD|7143;Eurexp|euxassay_012507|mantle layer, tegmentum, ventral grey horn	OMIM|601995
OPC	OLIG2	3.127959464	0	Transcription factor	BrainSpLMD|10215;Eurexp|euxassay_007187|basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|30397	OMIM|606386;COSMIC||T-ALL
OPC	BCAN	2.876587261	0	Adhesion molecule	BrainSpLMD|63827;Eurexp|euxassay_018187|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|11818	OMIM|600347
OPC	CADM2	2.726507704	0	Adhesion molecule	BrainSpLMD|253559;Eurexp|euxassay_011528|basioccipital bone, femur, humerus, mantle layer, midbrain, orbito-sphenoid, pelvic girdle, petrous part, scapula, trigeminal V, turbinate	SFARI||Autism, No category;OMIM|609938
OPC	NKX2.2	2.715463858	0			
OPC	LRRC4C	2.69526824	0	Integral membrane protein	BrainSpLMD|57689	OMIM|608817
OPC	LPPR1	2.564918878	0			
OPC	LIMA1	2.558057668	0	Cytoskeletal protein	BrainSpLMD|51474	OMIM|608364
OPC	SNX22	2.547245434	0	Transport/cargo protein	BrainSpLMD|79856;Eurexp|euxassay_013779|cochlea, left lung, liver, right lung, utricle	
OPC	SEMA5A	2.344948926	0	Unclassified	BrainSpLMD|9037;BrainSpMouseDev|20119	SFARI||Autism, 3 - Suggestive evidence;OMIM|609297;HPO|9037|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
OPC	MMP16	2.134673349	0	Metallo protease	BrainSpLMD|4325;Eurexp|euxassay_002543|body-wall mesenchyme, cochlear duct, cranium, head mesenchyme, mandible, rib, vibrissa	OMIM|602262
OPC	LSAMP	1.920008096	0	Adhesion molecule	BrainSpLMD|4045	OMIM|603241
OPC	SLITRK2	2.351140656	1.11E-16	Integral membrane protein	BrainSpLMD|84631;Eurexp|euxassay_012159|dorsal root ganglion, facial VII, glossopharyngeal IX, marginal layer, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|300561
OPC	BCHE	3.367598183	2.22E-16	Enzyme: Esterase	BrainSpLMD|590;BrainSpMouseDev|11824	OMIM|177400
OPC	PLEKHH2	2.344241902	2.22E-16	Cytoskeletal protein	BrainSpLMD|130271	OMIM|612723
OPC	VSTM2B	2.271079163	2.22E-16		Eurexp|euxassay_002292|mantle layer, marginal layer, ventricular layer	
OPC	SOX2.OT	0.990950552	2.22E-16			
OPC	P2RX7	3.589426277	3.33E-16	Extracellular ligand gated channel	BrainSpLMD|5027;BrainSpMouseDev|18206	OMIM|602566
OPC	SCN1A	2.759027685	3.33E-16	Voltage gated channel	BrainSpLMD|6323;BrainSpMouseDev|20028	SFARI||Autism, 3 - Suggestive evidence;OMIM|182389;HPO|6323|Abnormality of brainstem morphology, Abnormality of movement, Absence seizures, Aggressive behavior, Ataxia, Atonic seizures, Atypical absence seizures, Autistic behavior, Autosomal dominant inheritance, Blindness, Cerebral atrophy, Childhood onset, Cortical visual impairment, Cutaneous photosensitivity, EEG abnormality, EEG with focal sharp slow waves, Encephalopathy, Epileptic encephalopathy, Falls, Febrile seizures, Focal clonic seizures, Focal seizures with impairment of consciousness or awareness, Generalized myoclonic seizures, Generalized tonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Hemiclonic seizures, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Hyperactivity, Infantile onset, Intellectual disability, Mental deterioration, Migraine with aura, Motor delay, Muscular hypotonia, Myoclonus, Neurodevelopmental delay, Nystagmus, Obtundation status, Personality disorder, Photophobia, Postnatal microcephaly, Pschomotor retardation, Seizures, Status epilepticus, Tremor, Variable expressivity
OPC	ALCAM	1.718984649	3.33E-16	Adhesion molecule	BrainSpLMD|214;Eurexp|euxassay_003463|bladder, dorsal root ganglion, epithelium, extrinsic ocular muscle, lung, mantle layer, mesenchyme, nucleus pulposus, saccule, stomach, submandibular gland primordium, trachea, urethra, ventricular layer, vibrissa;BrainSpMouseDev|11445	OMIM|601662
OPC	COL20A1	0.936266806	4.44E-16	Structural protein	BrainSpLMD|57642;Eurexp|euxassay_013644|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, mandible, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, rib, temporal bone, turbinate, ventral grey horn	
OPC	ARL4A	2.188053426	1.44E-15	GTPase	BrainSpLMD|10124;Eurexp|euxassay_007257|lung, mandible, mantle layer, maxilla, meninges, oesophagus, urethra, vertebral axis muscle system	OMIM|604786
OPC	SPRY4	3.078432251	1.78E-15	Unclassified	BrainSpLMD|81848;Eurexp|euxassay_005250|brain, cervical, cervico-thoracic, cortex, diaphragm, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, incisor, lung, mesenchyme, metanephros, midgut, molar, naris, naso-lacrimal duct, rectum, spinal cord, stomach, thoracic, tongue, trigeminal V, turbinate bones, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|607984;HPO|81848|Abnormality of body height, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Anosmia, Anterior hypopituitarism, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Depressivity, Erectile abnormalities, Eunuchoid habitus, Female hypogonadism, Gynecomastia, Hypogonadotrophic hypogonadism, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Increased female libido, Male hypogonadism, Micropenis, Non-obstructive azoospermia, Osteopenia, Osteoporosis, Primary amenorrhea, Reduced bone mineral density, Secondary amenorrhea, Sparse axillary hair, Sparse body hair, Sparse pubic hair, Wide intermamillary distance
OPC	ZCCHC24	3.037786356	5.11E-15	DNA binding protein	BrainSpLMD|219654	
OPC	NT5E	3.208607611	7.99E-15	Enzyme: Hydrolase	BrainSpLMD|4907;Eurexp|euxassay_009709|mesenchyme	OMIM|129190;HPO|4907|Abnormal joint morphology, Abnormality of the vertebral column, Arterial calcification, Arterial occlusion, Autosomal recessive inheritance, Decreased serum creatinine, Ectopic ossification
OPC	MBP	5.201341807	8.44E-15	Structural protein	BrainSpLMD|4155;Eurexp|euxassay_015084|basal columns, brachial plexus, dorsal root ganglion, glossopharyngeal IX, left lung, mantle layer, mesenchyme, oesophagus, right lung, trigeminal V, vagus X;BrainSpMouseDev|16965	OMIM|159430
OPC	EPN2	1.838879838	8.66E-15	Unclassified;Adapter molecule	BrainSpLMD|22905	OMIM|607263
OPC	SMOC1	2.602546682	8.77E-15	Extracellular matrix protein;Calcium binding protein	BrainSpLMD|64093;Eurexp|euxassay_003378|aorta, axial muscle, axial skeleton, cochlea, dorsal grey horn, hyoid bone, mantle layer, marginal layer, medulla, medullary region, meninges, mesenchyme, metatarsus, naris, nasal septum, pancreas, phalanx, saccule, thyroid, turbinate bones, ventral grey horn, ventricle, ventricular layer	OMIM|608488;HPO|64093|Abnormal form of the vertebral bodies, Abnormality of the cardiovascular system, Abnormality of the eyebrow, Abnormality of the hair, Abnormality of the metacarpal bones, Anophthalmia, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Blepharophimosis, Camptodactyly of 2nd-5th fingers, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Deep philtrum, Depressed nasal bridge, Downslanted palpebral fissures, Failure to thrive, Fibular hypoplasia, Finger syndactyly, Flared nostrils, Foot oligodactyly, Frontal bossing, Fused fourth and fifth metacarpals, Hand oligodactyly, High palate, Hip dislocation, Hypoplasia of the maxilla, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Large earlobe, Low-set ears, Low-set, posteriorly rotated ears, Microphthalmia, Optic atrophy, Postaxial foot polydactyly, Postaxial hand polydactyly, Posteriorly rotated ears, Postnatal growth retardation, Prominent forehead, Retrognathia, Sandal gap, Short nose, Short palpebral fissure, Short stature, Short tibia, Single transverse palmar crease, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Tibial bowing, Toe syndactyly, True anophthalmia
OPC	PCDH17	1.817390096	1.03E-14	Adhesion molecule	BrainSpLMD|27253	OMIM|611760
OPC	PTN	0.682915086	2.60E-14	Cytokine	BrainSpLMD|5764	OMIM|162095
OPC	NKAIN4	1.856730704	3.45E-14	Unclassified	BrainSpLMD|128414	OMIM|612873
OPC	PTPRZ1	1.817950397	3.60E-14	Receptor tyrosine phosphatase	BrainSpLMD|5803;BrainSpMouseDev|19046	OMIM|176891
OPC	SCRG1	1.620744187	5.57E-14	Unclassified	BrainSpLMD|11341;Eurexp|euxassay_007430|axial skeleton, glossopharyngeal IX, left lung, metatarsus, nasal septum, oesophagus, orbito-sphenoid, phalanx, right lung, sternum, temporal bone, trigeminal V, turbinate	OMIM|603163
OPC	RAB31	2.694068515	9.40E-14	GTPase	BrainSpLMD|11031;Eurexp|euxassay_003248|axial muscle, basal plate, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, submandibular gland primordium, thoracic, trigeminal V, vagus X, vibrissa	OMIM|605694
OPC	HAS2	2.251008863	1.64E-13	Enzyme: Glycosyltransferase	BrainSpLMD|3037	OMIM|601636
OPC	NOVA1	1.863403134	2.59E-13	RNA binding protein	BrainSpLMD|4857	OMIM|602157
OPC	ITPR2	1.923256971	3.58E-13	Transport/cargo protein	BrainSpLMD|3709;Eurexp|euxassay_013833|mantle layer	OMIM|600144;HPO|3709|Anhidrosis, Autosomal recessive inheritance, Generalized anhidrosis, Heat intolerance
OPC	SOX6	1.158756835	4.22E-13	Transcription factor	BrainSpLMD|55553;BrainSpMouseDev|20441	OMIM|607257
OPC	BMP8B	2.724202917	4.29E-13	Growth factor	BrainSpLMD|656	OMIM|602284
OPC	IL1RAP	3.522748479	5.96E-13	Cell surface receptor	BrainSpLMD|3556;Eurexp|euxassay_003867|calyces, choroid plexus, lateral recess, ventral grey horn	OMIM|602626
OPC	COL9A1	2.453273631	6.36E-13	Extracellular matrix protein	BrainSpLMD|1297;Eurexp|euxassay_011520|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, hyoid bone, mandible, maxilla, metacarpus, metatarsus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, radius, rib, scapula, sternum, submandibular gland primordium, temporal bone, thyroid, tibia, trachea, turbinate, ulna, vault of skull;BrainSpMouseDev|12622	OMIM|120210;HPO|1297|Abnormality of epiphysis morphology, Abnormality of the knee, Amblyopia, Arthralgia, Arthralgia of the hip, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Childhood onset, Cleft palate, Degenerative vitreoretinopathy, Epiphyseal dysplasia, Flat capital femoral epiphysis, Flat distal femoral epiphysis, Flat face, Gait disturbance, Genu valgum, Hip dysplasia, Irregular distal femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Limitation of joint mobility, Malar flattening, Micrognathia, Micromelia, Multiple epiphyseal dysplasia, Myopia, Osteoarthritis, Platyspondyly, Retinal detachment, Schmorl's node, Sensorineural hearing impairment, Severe Myopia, Short stature, Small epiphyses, Vitreoretinal degeneration
OPC	CSMD1	2.281000484	8.97E-13	Integral membrane protein	BrainSpLMD|64478	SFARI||Autism, No category;OMIM|608397
OPC	SDC3	1.517414123	9.67E-13	Cell surface receptor	BrainSpLMD|9672	OMIM|186357
OPC	SH3D19	2.917088625	1.44E-12	Unclassified	Eurexp|euxassay_012615|choroid plexus, hindgut, metanephros, midgut, olfactory, stomach	OMIM|608674
OPC	OMG	2.654165561	2.33E-12	Adhesion molecule	BrainSpLMD|4974	OMIM|164345
OPC	CNTN1	2.910668427	3.16E-12	Adhesion molecule	BrainSpLMD|1272;Eurexp|euxassay_006852|4th ventricle, calyces, choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, marginal layer, maxilla, neural retina, olfactory, pelvis, pituitary, trigeminal V, ureter, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|12588	OMIM|600016;HPO|1272|Akinesia, Arachnodactyly, Areflexia, Autosomal recessive inheritance, Camptodactyly, Death in infancy, Fetal akinesia sequence, High, narrow palate, Hypertelorism, Joint contracture of the hand, Neonatal hypotonia, Oval face, Overlapping fingers, Polyhydramnios, Poor suck, Respiratory insufficiency due to muscle weakness, Scaphocephaly, Small for gestational age
OPC	NLGN3	2.59642576	3.53E-12	Integral membrane protein	BrainSpLMD|54413	SFARI||Autism, 2 - Strong candidate;OMIM|300336
OPC	TSPAN7	1.613333929	3.54E-12	Cell surface receptor	BrainSpLMD|7102;Eurexp|euxassay_015336|bladder, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, pancreas, thoracic, trigeminal V, vagus X, ventricular layer, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|300096;HPO|7102|Intellectual disability, Intellectual disability, mild, X-linked recessive inheritance
OPC	PCDH9	1.45410873	4.58E-12	Adhesion molecule	BrainSpLMD|5101;Eurexp|euxassay_014258|facial VII, mantle layer, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|603581
OPC	C2orf27A	2.609510185	5.01E-12	Unclassified	BrainSpLMD|29798	
OPC	ITGB8	1.193217366	7.01E-12	Cell surface receptor	BrainSpLMD|3696;Eurexp|euxassay_011385|axial skeleton, brachial plexus, nasal cavity, optic chiasma, optic nerve, phalanx, submandibular gland primordium, testis, valve, ventricular layer, vibrissa;BrainSpMouseDev|107845	OMIM|604160
OPC	PDE4B	2.437019825	9.23E-12	Enzyme: Phosphodiesterase	BrainSpLMD|5142;Eurexp|euxassay_018064|cochlea, mantle layer, utricle	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600127
OPC	SIRT2	3.261873761	1.14E-11	Cell cycle control protein	BrainSpLMD|22933	OMIM|604480
OPC	GRIA2	1.246896167	1.54E-11	Extracellular ligand gated channel	BrainSpLMD|2891;Eurexp|euxassay_010006|brain, dorsal root ganglion, molar, penis, skeletal muscle, spinal cord, trigeminal V, vagus X;BrainSpMouseDev|14576	OMIM|138247
OPC	C2orf80	2.475157854	2.68E-11	Unclassified		OMIM|615536
OPC	SCD5	1.623942574	2.75E-11	Enzyme: Oxidoreductase	BrainSpLMD|79966	OMIM|608370
OPC	PLAT	2.498939771	4.16E-11	Serine protease	BrainSpLMD|5327	OMIM|173370;HPO|5327|Autosomal dominant inheritance, Hypercoagulability, Recurrent deep vein thrombosis
OPC	EDNRB	3.211274379	9.28E-11	G protein coupled receptor	BrainSpLMD|1910;Eurexp|euxassay_002855|4th ventricle, bladder, choroid plexus, cochlear component, dorsal root ganglion, ductus deferens, facial VII, foregut-midgut junction, glossopharyngeal IX, heart, hindgut, inferior, intrinsic, lateral recess, loop, mantle layer, meninges, mesenchyme, midgut, oesophagus, rectum, stomach, superior, tail, tongue, trigeminal V, turbinate bones, urethra, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vestibular component, vestibulocochlear VIII;BrainSpMouseDev|13396	OMIM|131244;HPO|1910|Abdominal pain, Abnormal auditory evoked potentials, Abnormal macular morphology, Abnormality of vision, Aganglionic megacolon, Albinism, Ataxia, Autonomic dysregulation, Autosomal dominant inheritance, Autosomal recessive inheritance, Blue irides, Constipation, Global developmental delay, Hearing impairment, Heterochromia iridis, Heterogeneous, Hypopigmentation of the fundus, Hypopigmented skin patches, Intestinal obstruction, Large for gestational age, Leukodystrophy, Muscular hypotonia, Nausea and vomiting, Nystagmus, Olfactory lobe agenesis, Polyneuropathy, Premature graying of hair, Prominent nasal bridge, Sensorineural hearing impairment, Spastic paraparesis, Synophrys, Underdeveloped nasal alae, Weight loss, White eyebrow, White eyelashes, White forelock, Wide nasal bridge
OPC	NTNG1	3.179382446	9.44E-11	Unclassified	BrainSpLMD|22854;BrainSpMouseDev|56653	SFARI||Autism, 4 - Minimal evidence;OMIM|608818;HPO|22854|Abnormality of movement, Abnormality of the antitragus, Abnormality of the fingernails, Abnormality of the metacarpal bones, Aplasia/Hypoplasia of the cerebellum, Camptodactyly of finger, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Developmental regression, EEG abnormality, Fine hair, Gastroesophageal reflux, Hearing impairment, Intellectual disability, Long philtrum, Microcephaly, Nephrolithiasis, Seizures, Spasticity, Thick vermilion border, Underdeveloped nasal alae, Ventriculomegaly, Wide mouth, Wide nose
OPC	CSGALNACT1	3.329741141	1.15E-10	Enzyme: Transferase	BrainSpLMD|55790	OMIM|616615
OPC	MAP3K1	1.975852315	1.65E-10	Serine/threonine kinase	Eurexp|euxassay_011095|calyces, incisor, larynx, mantle layer, molar, naris, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, renal/urinary system, sublingual gland primordium, submandibular gland primordium, thyroid, vibrissa	OMIM|600982;COSMIC||luminal A breast, 46, XY sex reversal 6;HPO|4214|Abnormal sex determination, Abnormality of the labia, Abnormality of the scrotum, Ambiguous genitalia, Autosomal dominant inheritance, Azoospermia, Chordee, Clitoral hypertrophy, Cryptorchidism, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Dysgerminoma, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,XY karyotype, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hypergonadotropic hypogonadism, Hypogonadotrophic hypogonadism, Hypoplasia of the vagina, Hypospadias, Male infertility, Male pseudohermaphroditism, Micropenis, Osteoporosis, Polycystic ovaries, Primary amenorrhea, Sex reversal, Sparse axillary hair, Sparse pubic hair, Streak ovary, Testicular dysgenesis, Urogenital sinus anomaly, Vanishing testis
OPC	NETO1	3.150231467	1.90E-10	Unclassified	BrainSpLMD|81832	OMIM|607973
OPC	GRID2	0.634703213	3.37E-10	Membrane transport protein	BrainSpLMD|2895;BrainSpMouseDev|14580	SFARI||Autism, 4 - Minimal evidence;OMIM|602368;HPO|2895|Autosomal recessive inheritance, Cerebellar atrophy, Cognitive impairment, Dysarthria, Dysdiadochokinesis, Dysmetria, Esotropia, Gait ataxia, Generalized hypotonia, Global developmental delay, Incoordination, Infantile onset, Nystagmus, Oculomotor apraxia, Poor speech, Truncal ataxia
OPC	CALCRL	2.71928198	3.96E-10	G protein coupled receptor	BrainSpLMD|10203	OMIM|114190
OPC	FIBIN	2.408424636	4.73E-10	Unclassified	BrainSpLMD|387758;Eurexp|euxassay_012586|anterior abdominal wall, axial skeleton, cervical region, cranial muscle, diaphragm, extrinsic ocular muscle, lip, lumbar region, mesenchyme, metatarsus, naris, palatal shelf, phalanx, sacral region, sternum, tarsus, thoracic region, tongue, trachea, vibrissa	OMIM|617085
OPC	STK32A	2.037571643	4.97E-10	Serine/threonine kinase	BrainSpLMD|202374	
OPC	SLC35F1	2.057707184	7.22E-10	Integral membrane protein	Eurexp|euxassay_019705|dorsal root ganglion, embryo, glossopharyngeal IX, intermediate grey horn, mantle layer, rest of cerebellum, trigeminal V, ventral grey horn, ventricular layer	
OPC	SLC2A13	1.376657478	9.89E-10	Membrane transport protein	BrainSpLMD|114134;Eurexp|euxassay_019713|clavicle, mandible, mantle layer, maxilla, molar, rib, ventricular layer	OMIM|611036
OPC	BAI1	0.438121253	1.27E-09			
OPC	ST3GAL5	1.945490347	1.53E-09	Enzyme: Sialyltransferase	BrainSpLMD|8869	OMIM|604402;HPO|8869|Absent speech, Autosomal recessive inheritance, Choreoathetosis, Cortical visual impairment, Developmental regression, Developmental stagnation at onset of seizures, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Generalized tonic-clonic seizures, Global brain atrophy, Global developmental delay, Hypermelanotic macule, Hyporeflexia of upper limbs, Irritability, Lower limb hyperreflexia, Myoclonus, Optic atrophy, Status epilepticus, Visual loss, Vomiting
OPC	NCAM2	2.221777763	1.71E-09	Adhesion molecule	BrainSpLMD|4685;BrainSpMouseDev|17735	OMIM|602040
OPC	STRIP2	1.689905353	1.88E-09	Unclassified	BrainSpLMD|57464;BrainSpMouseDev|107544	
OPC	PTPRE	1.810235643	2.23E-09	Receptor tyrosine phosphatase	BrainSpLMD|5791	OMIM|600926
OPC	C8orf46	2.715424284	2.63E-09	Unclassified	BrainSpLMD|254778	
OPC	TNS3	3.073863944	3.04E-09	Integral membrane protein;Cell surface receptor	BrainSpLMD|64759;Eurexp|euxassay_014013|axial skeleton, ductus deferens, exoccipital bone, mandible, maxilla, mesenchyme, nasal septum, orbito-sphenoid, spleen primordium, trachea, turbinate, vibrissa	OMIM|606825
OPC	SGCD	2.557286448	3.21E-09	Adhesion molecule	BrainSpLMD|6444;Eurexp|euxassay_009461|mandible, maxilla;BrainSpMouseDev|23803	OMIM|601411;HPO|6444|Autosomal dominant inheritance, Autosomal recessive inheritance, Calf muscle hypertrophy, Difficulty walking, Dilated cardiomyopathy, Elevated serum creatine phosphokinase, Gowers sign, Muscular dystrophy, Proximal amyotrophy, Proximal muscle weakness, Reduced systolic function, Scapular winging, Ventricular hypertrophy
OPC	CHRM3	2.806746717	3.39E-09	G protein coupled receptor	BrainSpLMD|1131;BrainSpMouseDev|12456	SFARI||Autism, No category;OMIM|118494;HPO|1131|Abnormal heart morphology, Abnormality of the ribs, Abnormality of the skin, Anal atresia, Aplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the lungs, Autosomal recessive inheritance, Congenital hip dislocation, Congenital posterior urethral valve, Constipation, Cryptorchidism, Decreased fertility, Decreased testicular size, Hydronephrosis, Hydroureter, Multicystic kidney dysplasia, Oligohydramnios, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Prune belly, Recurrent respiratory infections, Recurrent urinary tract infections, Renal insufficiency, Talipes equinovarus, Vesicoureteral reflux, Xerostomia
OPC	MAML2	1.562538397	3.53E-09	Transcription regulatory protein	BrainSpLMD|84441	OMIM|607537;COSMIC||salivary gland mucoepidermoid
OPC	GALNT13	2.303640396	3.98E-09	Enzyme: Galactosyltransferase	BrainSpLMD|114805	SFARI||Autism, 4 - Minimal evidence;OMIM|608369
OPC	PON2	1.031636272	4.98E-09	Enzyme: Esterase	BrainSpLMD|5445	OMIM|602447;HPO|5445|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
OPC	GLDC	2.05762382	6.00E-09	Enzyme: Decarboxylase	BrainSpLMD|2731	OMIM|238300;HPO|2731|Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Death in infancy, Encephalopathy, Generalized hypotonia, Hyperactivity, Hyperglycinemia, Hyperglycinuria, Hyperreflexia, Impulsivity, Intellectual disability, Irritability, Lethargy, Myoclonus, Recurrent singultus, Restlessness, Seizures
OPC	DNM3	1.641590626	6.12E-09	GTPase	BrainSpLMD|26052	OMIM|611445
OPC	GRIK2	1.140757447	6.51E-09	Extracellular ligand gated channel	BrainSpLMD|2898;Eurexp|euxassay_008383|cerebellum, cortex, diencephalon, footplate, hindgut, medulla oblongata, midbrain, midgut, pituitary, pons, spinal cord, stomach, telencephalon, tongue, trigeminal V;BrainSpMouseDev|14582	SFARI||Autism, 3 - Suggestive evidence;OMIM|138244;HPO|2898|Autosomal recessive inheritance, Global developmental delay, Infantile onset, Intellectual disability
OPC	CD9	2.186177666	8.11E-09	Unclassified	BrainSpLMD|928;Eurexp|euxassay_001933|axial skeleton, bladder, calyces, cervical, cervico-thoracic, foregut-midgut junction, hindgut, lung, midgut, nucleus pulposus, oesophagus, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, rectum, stomach, submandibular gland primordium, thoracic, thymus primordium, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|12312	OMIM|143030
OPC	EPB41L2	2.378502011	8.53E-09	Cytoskeletal protein	BrainSpLMD|2037;Eurexp|euxassay_010082|calyces, clavicle, femur, fibula, fundus region, lens, lung, mandible, maxilla, meninges, olfactory, orbito-sphenoid, pelvis, rib, roof plate, tibia, ureter	OMIM|603237
OPC	SERPINE2	2.983561861	8.75E-09	Protease inhibitor	BrainSpLMD|5270;Eurexp|euxassay_007870|axial skeleton, dorsal root ganglion, glossopharyngeal IX, incisor, lip, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metatarsus, nasal septum, penis, phalanx, skeletal muscle, sternum, thymus primordium, trigeminal V, turbinate bones, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|177010
OPC	DBI	1.804944375	9.30E-09	Ligand	BrainSpLMD|1622;BrainSpMouseDev|12947	OMIM|125950
OPC	DSEL	1.385481879	9.52E-09	Enzyme: Sulphotransferase	BrainSpLMD|92126	OMIM|611125
OPC	GRB14	0.840015812	9.84E-09	Adapter molecule	BrainSpLMD|2888;Eurexp|euxassay_012213|dorsal root ganglion, mantle layer, nucleus pulposus, trigeminal V	OMIM|601524
OPC	KHDRBS3	1.460679556	9.97E-09	RNA binding protein	BrainSpLMD|10656	SFARI||Autism, 5 - Hypothesized but untested;OMIM|610421
OPC	MDGA2	2.000646729	1.08E-08	Unclassified	BrainSpLMD|161357	SFARI||Autism, 4 - Minimal evidence;OMIM|611128
OPC	RIT2	1.914072582	1.11E-08	GTPase	BrainSpLMD|6014;Eurexp|euxassay_007060|glossopharyngeal IX, left lung, mantle layer, marginal layer, neural retina, right lung	SFARI||Autism, 4 - Minimal evidence;OMIM|609592
OPC	RNF144A	1.726844659	1.24E-08	Ubiquitin proteasome system protein	BrainSpLMD|9781	
OPC	ILDR2	2.012538567	1.31E-08	Immunoglobulin	BrainSpLMD|387597	
OPC	LHFPL3.AS1	2.219846986	1.40E-08			
OPC	SPATA6	2.268440744	1.75E-08	Unclassified	BrainSpLMD|54558	OMIM|613947
OPC	NTM	1.401169961	2.09E-08	Adhesion molecule	BrainSpLMD|50863;Eurexp|euxassay_012548|axial skeleton, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, meninges, mesenchyme, neural retina, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|87964	OMIM|607938
OPC	NXPH1	2.312045607	2.14E-08	Secreted polypeptide	BrainSpLMD|30010;Eurexp|euxassay_007637|dorsal grey horn, mantle layer, ventral grey horn	SFARI||Autism, 4 - Minimal evidence;OMIM|604639
OPC	SLC9A9	2.225753448	2.77E-08	Membrane transport protein	BrainSpLMD|285195;Eurexp|euxassay_014481|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|109037	SFARI||Autism, 4 - Minimal evidence;OMIM|608396
OPC	PCDH11X	1.33722455	3.38E-08	Cell junction protein	BrainSpLMD|27328;Eurexp|euxassay_015176|bladder, extrinsic ocular muscle, mantle layer, metatarsus, olfactory, phalanx, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|89410	SFARI||Autism, 4 - Minimal evidence;OMIM|300246
OPC	RP11.161M6.2	1.880195722	3.40E-08			
OPC	BAALC	2.054663457	3.46E-08	Unclassified	BrainSpLMD|79870	OMIM|606602
OPC	QKI	1.239365018	3.56E-08	RNA binding protein	BrainSpLMD|9444;Eurexp|euxassay_012259|diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, lens, lung, mandible, mantle layer, marginal layer, maxilla, meninges, midgut, neural retina, orbito-sphenoid, petrous part, skeletal muscle, stomach, submandibular gland primordium, turbinate, vault of skull, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|609590;COSMIC||angiocentric glioma, colorectal cancer
OPC	NTN1	2.105856035	4.61E-08	Chemokine	BrainSpLMD|9423;Eurexp|euxassay_007630|axial skeleton, cortex, dorsal grey horn, extrinsic ocular muscle, hindgut, lung, mantle layer, midgut, oesophagus, olfactory, saccule, skeletal muscle, stomach, tongue, ventral grey horn, ventricle, ventricular layer, vibrissa;BrainSpMouseDev|17975	OMIM|601614
OPC	DPP10	0.561438991	6.03E-08	Aminopeptidase;Protease	BrainSpLMD|57628	SFARI||Autism, 3 - Suggestive evidence;OMIM|608209
OPC	ANKRD20A1	2.13415877	6.09E-08	Unclassified		
OPC	TRIB2	1.86666325	6.25E-08	Serine/threonine kinase	BrainSpLMD|28951;BrainSpMouseDev|85202	OMIM|609462
OPC	RPS3AP47	1.070163634	6.52E-08			
OPC	CSPG5	1.722492425	8.24E-08	Integral membrane protein	BrainSpLMD|10675	OMIM|606775
OPC	SULF2	2.567281513	8.88E-08	Enzyme: Sulphatase	BrainSpLMD|55959	OMIM|610013
OPC	NRIP3	2.015015603	9.82E-08	Unclassified	BrainSpLMD|56675;Eurexp|euxassay_008471|brachial plexus, dorsal root ganglion, facial VII, lumbo-sacral plexus, mantle layer, marginal layer, mesenchyme, olfactory, rib, submandibular gland primordium, tongue, trigeminal V, ureter, vibrissa;BrainSpMouseDev|54433	OMIM|613125
OPC	LPHN3	1.532460025	1.07E-07			
OPC	SLC44A1	1.916417816	1.27E-07	Integral membrane protein	BrainSpLMD|23446;Eurexp|euxassay_019727|bladder, clavicle, cornea, femur, fibula, hindgut, liver, lung, mandible, mantle layer, maxilla, midgut, oesophagus, olfactory, orbito-sphenoid, palatal shelf, pancreas, phalanx, pituitary, rib, sternum, submandibular gland primordium, testis, thymus primordium, tibia, urethra, ventricular layer, vibrissa	OMIM|606105
OPC	ITM2C	1.645588082	1.79E-07	Integral membrane protein	BrainSpLMD|81618	OMIM|609554
OPC	KAT2B	1.326384438	2.07E-07	Transcription regulatory protein	BrainSpLMD|8850	SFARI||Autism, 2 - Strong candidate;OMIM|602303
OPC	FGF12	1.051046785	2.13E-07	Growth factor	BrainSpLMD|2257;BrainSpMouseDev|13944	OMIM|601513;HPO|2257|Absent speech, Autosomal dominant inheritance, Cerebellar atrophy, Chronic constipation, Developmental regression, Epileptic encephalopathy, Feeding difficulties, Hypsarrhythmia, Inability to walk, Limb ataxia, Multifocal epileptiform discharges, Muscular hypotonia of the trunk, Poor speech, Status epilepticus, Variable expressivity
OPC	PGRMC1	1.400089764	2.27E-07	Cell surface receptor	BrainSpLMD|10857;Eurexp|euxassay_018260|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X	OMIM|300435
OPC	TMEM206	1.478426803	2.28E-07	Unclassified	BrainSpLMD|55248	
OPC	GRAMD3	2.548737729	2.66E-07			
OPC	PROM1	2.076666855	2.80E-07	Integral membrane protein	BrainSpLMD|8842;BrainSpMouseDev|18889	OMIM|604365;HPO|8842|Abnormal electroretinogram, Abnormality of color vision, Abnormality of macular pigmentation, Abnormality of retinal pigmentation, Abnormality of the choroid, Abnormality of the fovea, Abnormality of the retinal vasculature, Abnormality of the testis, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the macula, Atypical scarring of skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cataract, Central scotoma, Conductive hearing impairment, Cone/cone-rod dystrophy, Dyschromatopsia, Glaucoma, Granular macular appearance, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Macular degeneration, Macular dystrophy, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paroxysmal involuntary eye movements, Perifoveal ring of hyperautofluorescence, Peripheral visual field loss, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Retinal thinning, Rod-cone dystrophy, Sensorineural hearing impairment, Undetectable electroretinogram, Wide nasal bridge, Yellow/white lesions of the macula
OPC	COL11A1	0.858657466	2.91E-07	Extracellular matrix protein	BrainSpLMD|1301;Eurexp|euxassay_004200|axial skeleton, clavicle, cranium, femur, fibula, footplate, handplate, humerus, hyoid bone, mandible, nasal septum, otic capsule, palatal shelf, pelvic girdle, radius, rib, sternum, tibia, turbinate bones, ulna;BrainSpMouseDev|12597	OMIM|120280;HPO|1301|Abnormal diaphysis morphology, Abnormal form of the vertebral bodies, Abnormality of the dentition, Abnormality of the metaphysis, Abnormality of the pinna, Abnormality of the vitreous humor, Absent frontal sinuses, Amblyopia, Anterior rib cupping, Anteverted nares, Arachnodactyly, Arthralgia, Arthropathy, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bifid uvula, Brachycephaly, Brachydactyly, Broad ischia, Broad long bones, Broad ribs, Calcification of falx cerebri, Camptodactyly, Cataract, Cerebral calcification, Cleft palate, Clinodactyly of the 5th finger, Congenital cataract, Corneal opacity, Coxa valga, Depressed nasal bridge, Downslanted palpebral fissures, Dumbbell-shaped long bone, Ectopia lentis, Epicanthus, Epiphyseal dysplasia, Esotropia, Femoral bowing, Fibular hypoplasia, Flat face, Frontal bossing, Genu valgum, Glaucoma, Glossoptosis, Hearing abnormality, Hydrops fetalis, Hypertelorism, Hypohidrosis, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hypoplastic fingernail, Hypoplastic frontal sinuses, Hypoplastic ilia, Hypoplastic ischia, Hypoplastic scapulae, Hypoplastic toenails, Hypotrichosis, Irregular distal femoral epiphysis, Irregular proximal tibial epiphyses, Irregular vertebral endplates, Joint contracture of the hand, Joint hyperflexibility, Joint hypermobility, Lens luxation, Long clavicles, Long fingers, Long philtrum, Low-set ears, Macrodontia of permanent maxillary central incisor, Malar flattening, Megalocornea, Meningeal calcification, Micrognathia, Micromelia, Midface retrusion, Myopia, Narrow chest, Narrow greater sacrosciatic notches, Narrow mouth, Omphalocele, Osteoarthritis, Patent foramen ovale, Pierre-Robin sequence, Platyspondyly, Posterior rib cupping, Posterior vertebral hypoplasia, Premature birth, Proptosis, Protuberant abdomen, Radial bowing, Respiratory insufficiency, Retinal detachment, Retinopathy, Rhizomelia, Round face, Sensorineural hearing impairment, Severe Myopia, Short femur, Short foot, Short long bone, Short neck, Short nose, Short palm, Short ribs, Short stature, Small distal femoral epiphysis, Small hand, Small proximal tibial epiphyses, Spondyloepiphyseal dysplasia, Stillbirth, Thick lower lip vermilion, Thick upper lip vermilion, Thickened calvaria, Thin clavicles, Thin ribs, Thoracic hypoplasia, Ulnar bowing, Upper airway obstruction, Visual impairment, Vitreoretinal degeneration, Wide anterior fontanel, Wide nasal bridge, Wide tufts of distal phalanges, Widely patent coronal suture, Widely patent sagittal suture
OPC	ITM2A	0.463361817	3.36E-07	Integral membrane protein	BrainSpLMD|9452	OMIM|300222
OPC	PLLP	1.545361077	3.56E-07	Integral membrane protein	BrainSpLMD|51090;Eurexp|euxassay_010491|midgut, olfactory, stomach	OMIM|600340
OPC	OPCML	2.024050091	3.71E-07	Adhesion molecule	BrainSpLMD|4978;Eurexp|euxassay_011103|dorsal root ganglion, epithalamus, facial VII, glossopharyngeal IX, mantle layer, marginal layer, tongue, trigeminal V	OMIM|600632
OPC	SLC1A1	1.919595898	4.36E-07	Transport/cargo protein	BrainSpLMD|6505;Eurexp|euxassay_010393|brain, marginal layer, spinal cord;BrainSpMouseDev|20272	SFARI||Autism, 4 - Minimal evidence;OMIM|133550
OPC	PEAK1	1.111218462	4.36E-07	Tyrosine kinase		OMIM|614248
OPC	CAMSAP2	1.458482621	4.44E-07	Unclassified	BrainSpLMD|23271;Eurexp|euxassay_013367|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, mandible, maxilla, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|613775
OPC	PCDHGC3	1.831732956	4.82E-07	Unclassified		OMIM|603627
OPC	GPM6A	0.521840133	4.86E-07	Integral membrane protein	BrainSpLMD|2823;Eurexp|euxassay_005521|brain, diaphragm, epithelium, lip, mesenchyme, mesothelium, neural retina, olfactory, pericardial cavity, spinal cord, stroma	OMIM|601275
OPC	CSMD3	1.663066754	5.00E-07	Integral membrane protein	BrainSpLMD|114788;Eurexp|euxassay_013996|mantle layer, tegmentum, ventricle	OMIM|608399;COSMIC||ovarian cancer, oral SCC, lung cancer
OPC	TAOK3	1.450578926	5.07E-07	Serine/threonine kinase	BrainSpLMD|51347	OMIM|616711
OPC	UGDH	1.678881302	5.73E-07	Enzyme: Dehydrogenase	BrainSpLMD|7358	OMIM|603370
OPC	KCND2	2.229383178	7.12E-07	Voltage gated channel	BrainSpLMD|3751;Eurexp|euxassay_011123|cervical, cervico-thoracic, digit 1, digit 2, digit 3, digit 4, digit 5, ductus deferens, extrinsic ocular muscle, handplate, mantle layer, metanephros, olfactory, pelvic girdle, thoracic, vibrissa, vomeronasal organ;BrainSpMouseDev|16281	SFARI||Autism, No category;OMIM|605410
OPC	SHISA7	1.763575561	7.24E-07	Unclassified	BrainSpLMD|729956;Eurexp|euxassay_012823|dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, mesenchyme, orbito-sphenoid, rib, trigeminal V, vestibulocochlear VIII	OMIM|617328
OPC	RAPGEF4	2.120013435	7.71E-07	Guanine nucleotide exchange factor	BrainSpLMD|11069;Eurexp|euxassay_017162|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	SFARI||Autism, 4 - Minimal evidence;OMIM|606058
OPC	CNP	2.519761478	8.44E-07	Enzyme: Phosphodiesterase	BrainSpLMD|1267;BrainSpMouseDev|12582	OMIM|123830
OPC	TCF7L2	2.040761007	8.84E-07	Transcription factor	BrainSpLMD|6934;Eurexp|euxassay_019472|lip, mantle layer, mesenchyme, midgut, pancreas, phalanx, skeletal muscle, sternum, stomach, trachea, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|21177	SFARI||Autism, 3 - Suggestive evidence;OMIM|602228;COSMIC||colorectal
OPC	XYLT1	2.285991414	9.38E-07	Enzyme: Transferase	BrainSpLMD|64131	OMIM|608124;HPO|64131|Abnormality of the eyelashes, Abnormality of the metaphysis, Accelerated skeletal maturation, Advanced ossification of carpal bones, Anteverted nares, Aplasia/Hypoplasia of the abdominal wall musculature, Autosomal recessive inheritance, Bell-shaped thorax, Blue sclerae, Camptodactyly of finger, Clinodactyly of the 5th finger, Coxa valga, Coxa vara, Depressed nasal bridge, Disproportionate short-limb short stature, Elbow dislocation, Epiphyseal dysplasia, Flat face, Genu recurvatum, Glaucoma, Hypotrichosis, Intellectual disability, Joint hyperflexibility, Joint laxity, Long philtrum, Low-set, posteriorly rotated ears, Metaphyseal widening, Patellar dislocation, Proptosis, Radioulnar synostosis, Relative macrocephaly, Round face, Scoliosis, Severe short stature, Short clavicles, Short long bone, Short metacarpal, Short neck, Short phalanx of finger, Short stature, Small hand, Ventricular septal defect
OPC	SHC3	1.796406396	1.02E-06	Adapter molecule	BrainSpLMD|53358;Eurexp|euxassay_009466|cochlear duct, ventral grey horn, ventricular layer	OMIM|605263
OPC	ABAT	0.595414511	1.02E-06	Enzyme: Aminotransferase	BrainSpLMD|18;Eurexp|euxassay_001907|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, thymus primordium, trigeminal V, ventricular layer;BrainSpMouseDev|92603	SFARI||Autism, 4 - Minimal evidence;OMIM|137150;HPO|18|Agenesis of corpus callosum, Autosomal recessive inheritance, Cerebellar hypoplasia, Death in childhood, Downslanted palpebral fissures, Global developmental delay, High-pitched cry, Hyperreflexia, Lethargy, Leukodystrophy, Posterior fossa cyst, Retrognathia, Seizures, Severe muscular hypotonia, Tall stature
OPC	MPZL1	1.554334883	1.08E-06	Unclassified	BrainSpLMD|9019	OMIM|604376
OPC	SALL3	1.266442005	1.15E-06	DNA binding protein	BrainSpLMD|27164;Eurexp|euxassay_010911|cochlea, glomeruli, inner ear, lip, mantle layer, medulla oblongata, palatal shelf, penis, utricle, valve, ventricular layer;BrainSpMouseDev|20451	OMIM|605079
OPC	EVI2A	2.291330636	1.16E-06	Integral membrane protein	BrainSpLMD|2123;Eurexp|euxassay_018478|thymus primordium	OMIM|158380
OPC	LDHB	0.697306767	1.16E-06	Enzyme: Dehydrogenase	BrainSpLMD|3945	OMIM|150100
OPC	ZMAT3	1.945661456	1.26E-06	DNA binding protein	BrainSpLMD|64393	OMIM|606452
OPC	APCDD1	2.924688488	1.27E-06	Unclassified	BrainSpLMD|147495	OMIM|607479;HPO|147495|Alopecia, Autosomal dominant inheritance, Autosomal recessive inheritance, Hypotrichosis, Hypotrichosis of the scalp, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes
OPC	RAP1GAP	1.135759942	1.27E-06	GTPase activating protein	BrainSpLMD|5909;Eurexp|euxassay_010532|brain, calyces, clavicle, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, mandible, maxilla, midgut, olfactory, pancreas, pelvic girdle, pelvis, radius, rib, scapula, spinal cord, tibia, trigeminal V, turbinate bones, ulna, vagus X, vestibulocochlear VIII	OMIM|600278
OPC	ANGPTL2	1.281066439	1.33E-06	Secreted polypeptide	BrainSpLMD|23452;Eurexp|euxassay_007716|aorta, axial skeleton, basioccipital bone, clavicle, diaphragm, footplate, handplate, mandible, maxilla, meninges, mesenchyme, orbito-sphenoid, pelvic girdle, pericardium, rib, sternum, valve, vault of skull;BrainSpMouseDev|26108	OMIM|605001
OPC	CCND1	2.054480284	1.36E-06	Cell cycle control protein	BrainSpLMD|595;Eurexp|euxassay_002703|calyces, cervical, cervico-thoracic, neural retina, olfactory, orbito-sphenoid, submandibular gland primordium, thoracic, ventricular layer, vibrissa	OMIM|168461;COSMIC||CLL, B-ALL, breast;HPO|595|Abnormality of bone marrow cell morphology, Acute kidney injury, Anemia, Anorexia, B-cell lymphoma, Bone pain, Decreased antibody level in blood, Elevated serum creatinine, Fatigue, Fever, Generalized muscle weakness, Hyperproteinemia, Increased IgG level, Lymphadenopathy, Nephropathy, Nephrotic syndrome, Osteopenia, Pathologic fracture, Splenomegaly, Weight loss
OPC	LRP1	1.503122618	1.41E-06	Cell surface receptor	BrainSpLMD|4035;Eurexp|euxassay_011128|mesenchyme, ventricular layer;BrainSpMouseDev|16741	OMIM|107770;HPO|4035|Autosomal recessive inheritance
OPC	SEMA6D	1.450978622	1.67E-06	Membrane bound ligand	BrainSpLMD|80031;Eurexp|euxassay_010735|dorsal root ganglion, embryo, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|84750	OMIM|609295
OPC	WSCD1	1.511507592	1.79E-06	Integral membrane protein	BrainSpLMD|23302;Eurexp|euxassay_007047|anterior, brain, calyces, cardiac muscle, ductus deferens, incisor, inner ear, mesenchyme, molar, olfactory, optic II, pelvis, posterior, renal/urinary system, retina, spinal cord, thymus primordium, ureter, vagus X, vertebral axis muscle system, vomeronasal organ	
OPC	GPR155	1.851988375	1.87E-06	G protein coupled receptor	BrainSpLMD|151556	
OPC	SHISA9	1.496622042	2.13E-06	Unclassified		OMIM|613346
OPC	GPM6B	0.923458277	2.23E-06	Integral membrane protein	BrainSpLMD|2824;Eurexp|euxassay_011476|intermediate grey horn, mantle layer, marginal layer, ventral grey horn, ventricular layer	OMIM|300051
OPC	RAP2A	1.217318968	2.26E-06	GTPase	BrainSpLMD|5911	OMIM|179540
OPC	ARNT2	1.472716626	2.28E-06	Transcription factor	BrainSpLMD|9915;Eurexp|euxassay_006289|brain, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, spinal cord, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|11651	SFARI||Autism, 4 - Minimal evidence;OMIM|606036;HPO|9915|Agenesis of corpus callosum, Anterior pituitary hypoplasia, Autosomal recessive inheritance, Cleft palate, Cryptorchidism, Deeply set eye, Delayed myelination, Diabetes insipidus, Gastroesophageal reflux, Global developmental delay, Growth hormone deficiency, Hemiplegia/hemiparesis, Hip dislocation, Hydronephrosis, Hypernatremia, Hypoplasia of penis, Hypoplasia of the corpus callosum, Microcephaly, Neurogenic bladder, Nystagmus, Pituitary hypothyroidism, Postnatal microcephaly, Prominent forehead, Retrognathia, Seizures, Septo-optic dysplasia, Short stature, Spasticity, Strabismus, Vesicoureteral reflux, Visual impairment
OPC	LRRN1	1.215797445	2.37E-06	Integral membrane protein	BrainSpLMD|57633;Eurexp|euxassay_000278|cochlea, dorsal root ganglion, head mesenchyme, limb, lip, mantle layer, marginal layer, mesenchyme, olfactory, tail, trigeminal V, ventricular layer, vertebral axis muscle system, vibrissa	
OPC	TNK2	1.457995521	2.57E-06	Tyrosine kinase	BrainSpLMD|10188;Eurexp|euxassay_015328|brain, dorsal root ganglion, spinal cord, submandibular gland primordium, vibrissa	OMIM|606994
OPC	BRINP3	2.47045136	3.44E-06	Unclassified	BrainSpLMD|339479;Eurexp|euxassay_002098|mantle layer, olfactory, spinal cord, submandibular gland primordium	
OPC	PLP1	3.549629595	4.00E-06	Structural protein	BrainSpLMD|5354;BrainSpMouseDev|18587	OMIM|300401;HPO|5354|Abnormal pyramidal signs, Abnormality of extrapyramidal motor function, Ataxia, Babinski sign, Bowel incontinence, Cerebral dysmyelination, Choreoathetosis, Degeneration of the lateral corticospinal tracts, Delayed speech and language development, Dysarthria, Dysmetria, Dysphagia, Dystonia, Failure to thrive, Flexion contracture, Generalized hypotonia, Global developmental delay, Head titubation, Hyperreflexia, Infantile onset, Intellectual disability, Juvenile onset, Lower limb muscle weakness, Lower limb spasticity, Microcephaly, Muscle weakness, Muscular hypotonia, Nystagmus, Optic atrophy, Pes cavus, Phenotypic variability, Progressive spastic quadriplegia, Psychomotor deterioration, Reduction of oligodendroglia, Rotary nystagmus, Scanning speech, Short stature, Skeletal muscle atrophy, Slow progression, Spastic gait, Spastic paraparesis, Spastic paraplegia, Spastic/hyperactive bladder, Spinocerebellar tract degeneration, Sudanophilic leukodystrophy, Tremor, X-linked recessive inheritance
OPC	PCDH7	1.498993649	4.40E-06	Adhesion molecule	BrainSpLMD|5099;Eurexp|euxassay_009713|bladder, dorsal root ganglion, mantle layer, mesenchyme, olfactory, stomach, trigeminal V, vestibulocochlear VIII	OMIM|602988
OPC	SGK1	0.506324434	4.57E-06	Serine/threonine kinase	BrainSpLMD|6446;Eurexp|euxassay_010543|adrenal gland, choroid invagination, choroid plexus, left lung, lip, medullary stroma, mesenchyme, right lung, roof plate, vibrissa;BrainSpMouseDev|20156	OMIM|602958;COSMIC||Nodular lymphocyte predominant Hodgkin lymphoma
OPC	PDE7B	2.58818484	4.64E-06	Enzyme: Phosphodiesterase	BrainSpLMD|27115	OMIM|604645
OPC	SATB1	1.013129117	4.74E-06	Transcription factor	BrainSpLMD|6304;Eurexp|euxassay_018001|cervical, cervico-thoracic, dorsal root ganglion, epidermis, facial VII, glossopharyngeal IX, marginal layer, neural retina, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|19993	OMIM|602075
OPC	LRRTM3	2.616572602	4.75E-06	Integral membrane protein	BrainSpLMD|347731;Eurexp|euxassay_006601|lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, midgut, palatal shelf, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|610869
OPC	DNER	0.481369033	4.95E-06	Cell surface receptor	BrainSpLMD|92737;Eurexp|euxassay_003135|axial skeleton, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, extrinsic ocular muscle, facial VII, foregut-midgut junction, glossopharyngeal IX, head mesenchyme, hindbrain, hindgut, limb, mantle layer, marginal layer, mesenchyme, midbrain, midgut, neural retina, nucleus pulposus, olfactory, penis, skeletal muscle, spinal cord, stomach, stroma, tail, thoracic, tongue, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|86552	SFARI||Autism, 4 - Minimal evidence;OMIM|607299
OPC	FGF14	2.092907996	5.11E-06	Growth factor	BrainSpLMD|2259;BrainSpMouseDev|13946	OMIM|601515;HPO|2259|Autosomal dominant inheritance, Dysmetric saccades, Head tremor, Heterogeneous, Impaired smooth pursuit, Intellectual disability, mild, Memory impairment, Sensory axonal neuropathy, Slow progression, Strabismus, Truncal ataxia
OPC	IDH1	1.043777674	5.16E-06	Enzyme: Dehydrogenase	BrainSpLMD|3417;Eurexp|euxassay_018329|adrenal gland, brain, cervical, cervico-thoracic, clavicle, dorsal root ganglion, glossopharyngeal IX, neural retina, rib, spinal cord, stroma, testis, thoracic, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	OMIM|147700;COSMIC||glioblastoma;HPO|3417|Abnormality of the metaphysis, Bone pain, Exostoses, Hemangiomatosis, Joint stiffness, Micromelia, Multiple enchondromatosis, Osteolysis, Scoliosis, Short stature, Subcutaneous nodule, Venous thrombosis, Visceral angiomatosis
OPC	NCALD	1.860263598	5.32E-06	Calcium binding protein	BrainSpLMD|83988;Eurexp|euxassay_005524|cervical, cervico-thoracic, dorsal root ganglion, forebrain, hindbrain, midbrain, spinal cord, thoracic, trigeminal V, vagus X, vibrissa	OMIM|606722
OPC	PELI1	1.10955072	5.55E-06	Adapter molecule	BrainSpLMD|57162;Eurexp|euxassay_011663|cortex, forebrain, hindbrain, incisor, lung, marginal layer, midbrain, molar, neural retina, olfactory, spinal cord, submandibular gland primordium, thymus primordium, vibrissa, vomeronasal organ	OMIM|614797
OPC	NLGN4X	1.530832125	5.57E-06	Adhesion molecule;Integral membrane protein	BrainSpLMD|57502	SFARI||Autism, 3 - Suggestive evidence;OMIM|300427;HPO|57502|Autism, Childhood onset, Delayed speech and language development, EEG abnormality, Heterogeneous, Impaired use of nonverbal behaviors, Increased serum serotonin, Inflexible adherence to routines or rituals, Intellectual disability, Lack of peer relationships, Lack of spontaneous play, Multifactorial inheritance, Restrictive behavior, Seizures, Sporadic, Stereotypy, X-linked inheritance
OPC	AASS	1.126092044	5.90E-06	Enzyme: Oxidoreductase;Enzyme: Synthase	BrainSpLMD|10157	OMIM|605113;HPO|10157|Abnormality of the genitourinary system, Anemia, Autosomal recessive inheritance, Cognitive impairment, Delayed speech and language development, EEG abnormality, Ectopia lentis, Histidinuria, Hyperactivity, Hyperlysinemia, Hyperlysinuria, Infantile onset, Intellectual disability, Intellectual disability, mild, Muscular hypotonia, Phenotypic variability, Seizures, Short attention span, Short stature, Spastic diplegia
OPC	GRM5	1.148880596	6.40E-06	G protein coupled receptor	BrainSpLMD|2915;Eurexp|euxassay_016595|mantle layer;BrainSpMouseDev|72233	SFARI||Autism, No category;OMIM|604102
OPC	DSCAM	2.210959653	6.65E-06	Adhesion molecule	BrainSpLMD|1826	SFARI||Autism, 1 - High confidence;OMIM|602523
OPC	ASUN	1.585337788	7.21E-06			
OPC	THY1	1.9285503	7.24E-06	Unclassified	BrainSpLMD|7070;Eurexp|euxassay_018968|anterior, calyces, dermis, femur, fibula, humerus, incisor, mantle layer, metanephros, pelvic girdle, pelvis, renal/urinary system, scapula, sublingual gland primordium, thymus primordium, tibia, ureter, ventral grey horn, vibrissa	OMIM|188230
OPC	ITGAV	1.495193369	7.38E-06	Cell surface receptor	BrainSpLMD|3685;Eurexp|euxassay_009584|brain, calyces, incisor, mandible, maxilla, mesenchyme, midgut, molar, spinal cord, stomach, submandibular gland primordium, ventricular layer;BrainSpMouseDev|16183	OMIM|193210;COSMIC||large intestine carcinoma
OPC	GATM	1.313810799	7.43E-06	Enzyme: Amidinotransferase	BrainSpLMD|2628;Eurexp|euxassay_005674|diaphragm, footplate, frenulum, handplate, lower leg, paraxial mesenchyme, shoulder, skeletal muscle, upper arm, upper leg, vertebral axis muscle system	SFARI||Autism, No category;OMIM|602360;HPO|2628|Abnormality of creatine metabolism, Autism, Autosomal recessive inheritance, Delayed speech and language development, Failure to thrive, Global developmental delay, Infantile onset, Intellectual disability, Organic aciduria
OPC	APBB2	1.866921748	7.48E-06	Adapter molecule	BrainSpLMD|323;Eurexp|euxassay_007659|corpus striatum, mantle layer, nasal septum, neural retina, turbinate bones, ventral grey horn	OMIM|602710
OPC	DUSP6	1.859971708	8.12E-06	Dual specificity phosphatase	BrainSpLMD|1848;Eurexp|euxassay_018723|cochlea, cornea, hindgut, incisor, intrinsic, metanephros, midgut, molar, naris, pituitary, primary choana, submandibular gland primordium, tongue, tooth, turbinate bones, vertebral axis muscle system, vibrissa;BrainSpMouseDev|43446	OMIM|602748;HPO|1848|Abnormality of body height, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Anosmia, Anterior hypopituitarism, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Depressivity, Erectile abnormalities, Eunuchoid habitus, Female hypogonadism, Gynecomastia, Hypogonadotrophic hypogonadism, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Increased female libido, Male hypogonadism, Micropenis, Non-obstructive azoospermia, Osteopenia, Osteoporosis, Primary amenorrhea, Reduced bone mineral density, Secondary amenorrhea, Sparse axillary hair, Sparse body hair, Sparse pubic hair, Wide intermamillary distance
OPC	CHST3	2.207564651	8.41E-06	Enzyme: Sulphotransferase	BrainSpLMD|9469	OMIM|603799;HPO|9469|Abnormal form of the vertebral bodies, Abnormality of cardiovascular system morphology, Accelerated skeletal maturation, Amblyopia, Aortic regurgitation, Aortic root dilatation, Aortic valve stenosis, Arthralgia, Arthropathy, Autosomal dominant inheritance, Autosomal recessive inheritance, Barrel-shaped chest, Bicuspid aortic valve, Bilateral elbow dislocations, Bilateral single transverse palmar creases, Brachycephaly, Brachydactyly, Broad distal phalanges of all fingers, Broad forehead, Camptodactyly of finger, Cardiomegaly, Cleft palate, Congenital glaucoma, Coronal cleft vertebrae, Cubitus valgus, Cutis laxa, Decreased hip abduction, Delayed eruption of teeth, Delayed gross motor development, Delayed skeletal maturation, Depressed nasal bridge, Deviation of the 5th finger, Disproportionate short-trunk short stature, Downslanted palpebral fissures, Elbow dislocation, Elbow flexion contracture, Enlarged joints, Enlarged metaphyses, Esotropia, Fixed elbow flexion, Flattened epiphysis, Flexion contracture, Frontal bossing, Generalized bone demineralization, Genu valgum, Hearing impairment, High palate, Highly arched eyebrow, Hip dislocation, Hydrocephalus, Hypermetropia, Hypertelorism, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ulna, Intervertebral space narrowing, Irregular epiphyses, Irregular vertebral endplates, Joint laxity, Knee dislocation, Kyphoscoliosis, Large eyes, Left ventricular hypertrophy, Limited hip extension, Long philtrum, Low posterior hairline, Low-set ears, Lumbar hyperlordosis, Metatarsus adductus, Microdontia, Microtia, Midface retrusion, Mitral regurgitation, Mitral stenosis, Mitral valve prolapse, Motor delay, Multiple carpal ossification centers, Multiple joint dislocation, Narrow chest, Narrow mouth, Narrow vertebral interpedicular distance, Osteopenia, Patent foramen ovale, Pes planus, Prominent forehead, Pulmonary arterial hypertension, Pulmonic stenosis, Radioulnar synostosis, Rhizomelia, Scoliosis, Shield chest, Short distal phalanx of finger, Short femoral neck, Short metacarpal, Short neck, Short phalanx of finger, Shoulder dislocation, Small epiphyses, Small face, Sparse and thin eyebrow, Sparse eyebrow, Spatulate thumbs, Spondyloepiphyseal dysplasia, Talipes equinovalgus, Talipes equinovarus, Thick eyebrow, Tibial bowing, Tricuspid regurgitation, Tricuspid stenosis, Ulnar bowing, Ventricular hypertrophy, Ventricular septal defect, Waddling gait, Wide intermamillary distance, Widely spaced teeth
OPC	SASH1	2.341934621	8.53E-06	Adapter molecule	BrainSpLMD|23328	OMIM|607955
OPC	RFTN2	1.167938861	1.00E-05	Unclassified	BrainSpLMD|130132	
OPC	CPEB2	1.506971766	1.04E-05	RNA binding protein	BrainSpLMD|132864	OMIM|610605
OPC	LRP1B	1.8969844	1.10E-05	Cell surface receptor	BrainSpLMD|53353;Eurexp|euxassay_013815|floor plate, floorplate, roof plate	OMIM|608766;COSMIC||CLL, ovarian cancer, oesophageal squamous cell carcinoma, urothelial cancer
OPC	CDH10	1.254139219	1.19E-05	Adhesion molecule	BrainSpLMD|1008;Eurexp|euxassay_009792|mantle layer, nose, tegmentum;BrainSpMouseDev|107808	SFARI||Autism, 4 - Minimal evidence;OMIM|604555;COSMIC||melanoma, pancreatic ductal adenocarcinoma
OPC	SLC22A17	1.245620401	1.24E-05	Transport/cargo protein	BrainSpLMD|51310	OMIM|611461
OPC	TMEM257	1.812671915	1.24E-05			
OPC	SEZ6L	1.201982598	1.35E-05	Integral membrane protein	BrainSpLMD|23544;Eurexp|euxassay_009459|brain, neural retina, spinal cord	OMIM|607021
OPC	KCNQ1OT1	1.400395335	1.37E-05			OMIM|604115;HPO|10984|Abnormality of the dentition, Accelerated skeletal maturation, Adrenocortical carcinoma, Adrenocortical cytomegaly, Asymmetry of the thorax, Autosomal dominant inheritance, Cardiomegaly, Cardiomyopathy, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Diastasis recti, Enlarged kidney, Facial asymmetry, Gonadoblastoma, Hemihypertrophy, Hepatoblastoma, Hepatomegaly, Intellectual disability, mild, Large fontanelles, Macroglossia, Midface retrusion, Neonatal hypoglycemia, Nephroblastoma, Nephrocalcinosis, Nephrolithiasis, Nevus flammeus, Omphalocele, Overgrowth, Overgrowth of external genitalia, Pancreatic hyperplasia, Posterior helix pit, Prominent metopic ridge, Prominent occiput, Proptosis, Renal cortical cysts, Scoliosis, Vesicoureteral reflux
OPC	SERINC5	1.56151388	1.42E-05	Unclassified	BrainSpLMD|256987;Eurexp|euxassay_011506|anterior, clavicle, floor plate, floorplate, incisor, mantle layer, marginal layer, molar, phalanx, thyroid, ventricular layer, vibrissa	OMIM|614551
OPC	LINC00643	1.667850407	1.49E-05			
OPC	SSR1	0.379617352	1.52E-05	Membrane transport protein	BrainSpLMD|6745;Eurexp|euxassay_011321|basioccipital bone, basisphenoid bone, cartilaginous ring, clavicle, cricoid, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, metacarpus, molar, naris, orbito-sphenoid, otic capsule, pancreas, paraxial mesenchyme, pelvic girdle, petrous part, radius, scapula, submandibular gland primordium, thyroid, tibia, turbinate bones, ulna, vault of skull	OMIM|600868
OPC	ANKRD20A3	1.130509573	1.56E-05	Unclassified		
OPC	PDGFA	1.337791032	1.59E-05	Growth factor	Eurexp|euxassay_004036|anterior, axial skeleton, calyces, choroid invagination, choroid plexus, conjunctival sac, diaphragm, epidermis, epithelium, external, footplate, handplate, incisor, left lung, midgut, molar, naso-lacrimal duct, olfactory, oral epithelium, orbito-sphenoid, paraxial mesenchyme, pharyngo-tympanic tube, posterior, primitive seminiferous tubules, rest of mesenchyme, right lung, roof plate, skeletal muscle, stomach, submandibular gland primordium, thymus primordium, trachea, urethra, vertebral axis muscle system, vibrissa, vomeronasal organ;BrainSpMouseDev|18356	OMIM|173430
OPC	CHD7	0.722786993	1.70E-05	DNA binding protein	Eurexp|euxassay_010758|marginal layer, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|608892;HPO|55636|Abnormality of body height, Abnormality of female internal genitalia, Abnormality of lymphocytes, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Alopecia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bifid scrotum, Breast hypoplasia, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Desquamation of skin soon after birth, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysphagia, Edema, Eosinophilia, Erectile abnormalities, Erythroderma, Esophageal atresia, Eunuchoid habitus, External ear malformation, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Female hypogonadism, Fever, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Hepatomegaly, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphopenia, Malar flattening, Male hypogonadism, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Non-obstructive azoospermia, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Pneumonia, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Secondary amenorrhea, Sensorineural hearing impairment, Severe combined immunodeficiency, Sparse body hair, Splenomegaly, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Thickened skin, Tracheoesophageal fistula, Umbilical hernia, Ventricular septal defect, Wide intermamillary distance
OPC	DHCR24	1.599167747	1.72E-05	Enzyme: Reductase	BrainSpLMD|1718;Eurexp|euxassay_011628|adrenal gland, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lobe, lung, mantle layer, marginal layer, midgut, molar, neural retina, olfactory, pharyngo-tympanic tube, rectum, respiratory, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ	OMIM|606418;HPO|1718|Absent septum pellucidum, Agenesis of corpus callosum, Anteverted nares, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Bifid uvula, Depressed nasal bridge, Failure to thrive, Feeding difficulties, Hydrocephalus, Intellectual disability, Intrauterine growth retardation, Large earlobe, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscle stiffness, Narrow mouth, Nystagmus, Partial agenesis of the corpus callosum, Phenotypic variability, Relative macrocephaly, Retrognathia, Rigidity, Seizures, Severe short stature, Short nose, Spasticity, Status epilepticus, Strabismus, Submucous cleft hard palate, Ventriculomegaly
OPC	LAMA4	2.297141231	1.82E-05	Adhesion molecule	BrainSpLMD|3910;Eurexp|euxassay_013553|lip, nasal cavity	OMIM|600133;HPO|3910|Autosomal dominant inheritance, Dilated cardiomyopathy
OPC	ATPIF1	1.627872415	1.82E-05			
OPC	ETV5	1.041817119	2.21E-05	Transcription regulatory protein	BrainSpLMD|2119;Eurexp|euxassay_000518|calyces, cranium, incisor, lung, otic capsule, submandibular gland primordium, testis, turbinate bones, ventricular layer;BrainSpMouseDev|68321	OMIM|601600;COSMIC||prostate
OPC	REEP3	1.187385946	2.23E-05	Unclassified	BrainSpLMD|221035;Eurexp|euxassay_004457|digit 1, digit 2, digit 3, digit 4, digit 5, footplate, handplate, lower leg, trigeminal V, valve, ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|609348
OPC	TRIO	0.870954665	2.27E-05	Guanine nucleotide exchange factor	BrainSpLMD|7204;Eurexp|euxassay_013122|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|601893;HPO|7204|2-3 toe syndactyly, Aggressive behavior, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Brachydactyly, Clinodactyly, Delayed speech and language development, Dental crowding, Downslanted palpebral fissures, High forehead, High palate, Hypodontia, Macrotia, Microcephaly, Micrognathia, Motor delay, Obsessive-compulsive behavior, Phenotypic variability, Poor speech, Short nose, Synophrys, Tapered finger, Thick eyebrow, Thick vermilion border, Upslanted palpebral fissure
OPC	SPRY1	1.361105205	2.42E-05	Unclassified	BrainSpLMD|10252	OMIM|602465
OPC	NUP50	0.474342915	2.65E-05	Transport/cargo protein	BrainSpLMD|10762	OMIM|604646
OPC	TNS1	2.053164798	2.94E-05	Adhesion molecule	BrainSpLMD|7145	OMIM|600076
OPC	FYN	1.65603573	3.02E-05	Tyrosine kinase	BrainSpLMD|2534;BrainSpMouseDev|14136	OMIM|137025
OPC	LYPD1	1.443947999	3.22E-05	Unclassified	BrainSpLMD|116372;Eurexp|euxassay_015059|alar columns, alar plate, arm, basal columns, basal plate, brain, carpus, caudate nucleus, caudate-putamen, cerebellum, cerebral cortex, cochlear component, corpus striatum, dermal component, diencephalon, dorsal root ganglion, epithelium, external, facial VII, footplate, forebrain, forelimb, ganglion, glossopharyngeal IX, handplate, head, hindbrain, hindlimb, hypoglossal XII, hypothalamus, incisor, inferior, interthalamic adhesion, intraventricular portion, lamina terminalis, lateral wall, lentiform nucleus, limb, mandibular division, mantle layer, marginal layer, maxillary division, meatus, medulla oblongata, mesenchyme, metencephalon, midbrain, naris, nasal capsule, nasal cavity, nasal septum, neurohypophysis, olfactory I, olfactory cortex, olfactory lobe, ophthalmic division, optic II, otic capsule, pigmented retinal epithelium, pineal primordium, pituitary, pons, posterior, primary choana, rest of alar plate, rest of cerebellum, rest of skin, retina, spinal cord, sulcus limitans, superior, tail, tarsus, tegmentum, telencephalon, thalamus, thymus primordium, thyroid, trigeminal V, trochlear IV, turbinate bones, vagus X, vestibular component, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|48426	OMIM|610450
OPC	8-Sep	0.970064331	3.26E-05			
OPC	ATP13A4	2.37130522	3.29E-05	ATPase	BrainSpLMD|84239	OMIM|609556
OPC	GPR75.ASB3	1.48376855	3.34E-05			
OPC	CISD1	1.693123435	3.44E-05	Unclassified	BrainSpLMD|55847;Eurexp|euxassay_003163|chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, lobe, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611932
OPC	RPL7AP6	0.976287171	3.47E-05			
OPC	ANKS1B	1.005874357	3.64E-05	Transcription regulatory protein	BrainSpLMD|56899	SFARI||Autism, No category;OMIM|607815
OPC	GLTP	1.499757345	4.17E-05	Transport/cargo protein	BrainSpLMD|51228;Eurexp|euxassay_005240|anterior, external, thymus primordium	OMIM|608949
OPC	MAP4K5	0.824511271	4.42E-05	Serine/threonine kinase	BrainSpLMD|11183	OMIM|604923
OPC	GNG12	2.18414468	4.91E-05	G protein	BrainSpLMD|55970;Eurexp|euxassay_002072|ventricular layer	OMIM|615405
OPC	LSAMP.AS1	1.773998403	5.05E-05			
OPC	DOCK1	1.910984493	5.33E-05	Guanine nucleotide exchange factor	BrainSpLMD|1793	SFARI||Autism, 4 - Minimal evidence;OMIM|601403
OPC	CASK	1.138672319	5.64E-05	Serine/threonine kinase	BrainSpLMD|8573	SFARI||Autism, 4 - Minimal evidence;OMIM|300172;HPO|8573|Absent speech, Broad forehead, Broad nasal tip, Cataract, Cerebellar hypoplasia, Cerebral cortical atrophy, Decreased body weight, Dilated fourth ventricle, Epicanthus, Gait disturbance, Generalized hypotonia, Global developmental delay, High palate, Hyperreflexia, Hypertelorism, Hypohidrosis, Intellectual disability, Intellectual disability, moderate, Large eyes, Long philtrum, Macrotia, Microcephaly, Micrognathia, Muscle weakness, Muscular hypotonia of the trunk, Myopia, Nystagmus, Oval face, Postnatal growth retardation, Progressive microcephaly, Prominent nasal bridge, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Short nose, Short stature, Spasticity, Strabismus, Visual impairment, Wide nasal bridge, X-linked dominant inheritance, X-linked inheritance
OPC	HIP1	0.875828829	5.86E-05	Structural protein	BrainSpLMD|3092	OMIM|601767;COSMIC||CMML, NSCLC
OPC	ARHGAP42	2.818389714	6.16E-05			OMIM|615936
OPC	OCIAD2	0.38882531	6.23E-05	Unclassified	BrainSpLMD|132299	
OPC	KLHL5	2.043163616	6.49E-05	Cytoskeletal associated protein	BrainSpLMD|51088;Eurexp|euxassay_012137|dorsal root ganglion, glossopharyngeal IX, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, mesenchyme, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|608064
OPC	STRN	2.65851761	6.60E-05	Unclassified	BrainSpLMD|6801	OMIM|614765;COSMIC||anaplastic thyroid, papillary thyroid, lung
OPC	ASIC1	1.20667327	6.95E-05	Ion channel	BrainSpLMD|41;BrainSpMouseDev|11208	OMIM|602866
OPC	PDLIM5	1.008216496	7.82E-05	Adapter molecule	BrainSpLMD|10611;Eurexp|euxassay_011640|alar columns, axial skeleton, bladder, choroid plexus, clavicle, dorsal grey horn, floor plate, floorplate, mesenchyme, metanephros, midgut, oesophagus, stomach, submandibular gland primordium, trachea, urethra, ventral grey horn, ventricular layer	OMIM|605904
OPC	RDH11	1.013963671	8.03E-05	Enzyme: Dehydrogenase	BrainSpLMD|51109	OMIM|607849;HPO|51109|Autosomal recessive inheritance, Dental malocclusion, Global developmental delay, Malar flattening, Retinal dystrophy, Short stature, Upslanted palpebral fissure, Widely spaced teeth
OPC	MAMLD1	0.988442092	8.70E-05	Unclassified	BrainSpLMD|10046;Eurexp|euxassay_011718|diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, lung, trigeminal V, vagus X, vertebral axis muscle system	OMIM|300120;HPO|10046|Hypospadias, Penoscrotal hypospadias, X-linked recessive inheritance
OPC	B9D1	1.280463636	8.83E-05	Unclassified	BrainSpLMD|27077	OMIM|614144;HPO|27077|Abnormality of the posterior cranial fossa, Ambiguous genitalia, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Cataract, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Cleft palate, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Encephalocele, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Hypertelorism, Intellectual disability, Limb undergrowth, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Muscular hypotonia, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Postaxial foot polydactyly, Postaxial hand polydactyly, Sclerocornea, Sloping forehead, Talipes, Talipes equinovarus
OPC	RABGAP1L	0.578543015	9.03E-05	GTPase activating protein	BrainSpLMD|9910	OMIM|609238
OPC	SAMD8	0.730985529	0.000106449	Integral membrane protein	BrainSpLMD|142891	OMIM|611575
OPC	LRRN3	0.803937362	0.000109063	Integral membrane protein	BrainSpLMD|54674;Eurexp|euxassay_015911|cervical, cervico-thoracic, ear, facial VII, glossopharyngeal IX, lip, mantle layer, marginal layer, medulla, neural retina, olfactory, pituitary, stomach, thoracic, trachea, trigeminal V, ventral grey horn, vestibular component, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16751	
OPC	UFL1	1.29862074	0.000119258	Unclassified	BrainSpLMD|23376	OMIM|613372
OPC	PDIA6	1.233324577	0.000120284	Enzyme: Isomerase	BrainSpLMD|10130	OMIM|611099
OPC	CANX	1.283384737	0.000124775	Chaperone	BrainSpLMD|821	OMIM|114217
OPC	NTRK3	1.068107161	0.000128357	Receptor tyrosine kinase	BrainSpLMD|4916;Eurexp|euxassay_017897|corpus striatum, dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|17980	SFARI||Autism, 4 - Minimal evidence;OMIM|191316;COSMIC||congenital fibrosarcoma, secretory breast
OPC	MT3	1.069488661	0.000133238	Unclassified	BrainSpLMD|4504;Eurexp|euxassay_012667|dorsal root ganglion, glossopharyngeal IX, trigeminal V, ventral grey horn, ventricular layer	OMIM|139255
OPC	PHLDB1	1.522104565	0.000136333	Unclassified	BrainSpLMD|23187	OMIM|612834
OPC	ANKRD20A2	1.307902854	0.000150253	Unclassified		
OPC	PPIB	0.970780571	0.000177873	Chaperone	BrainSpLMD|5479;Eurexp|euxassay_000530|basioccipital bone, basisphenoid bone, cranium, nucleus pulposus, orbito-sphenoid, otic capsule, rib, sphenoid	OMIM|123841;HPO|5479|Autosomal recessive inheritance, Blue sclerae, Bowing of limbs due to multiple fractures, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Kyphosis, Multiple prenatal fractures, Pectus carinatum, Pectus excavatum, Recurrent fractures, Scoliosis, Wormian bones
OPC	SOX2	0.857692769	0.000186426	Transcription factor	Eurexp|euxassay_019525|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lung, mantle layer, medulla, midgut, neural retina, oesophagus, olfactory, oral epithelium, pituitary, saccule, stomach, testis, trachea, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|20436	OMIM|184429;COSMIC||NSCLC, oesophageal squamous carcinoma, Microphthalmia and oesophageal atresia syndrome;HPO|6657|Agenesis of corpus callosum, Anophthalmia, Anterior pituitary hypoplasia, Autosomal dominant inheritance, Butterfly vertebrae, Cleft palate, Coloboma, Cryptorchidism, Esophageal atresia, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hemivertebrae, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypospadias, Hypothalamic hamartoma, Microcephaly, Micropenis, Microphthalmia, Missing ribs, Nystagmus, Optic nerve hypoplasia, Patent ductus arteriosus, Postnatal growth retardation, Rib fusion, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Short stature, Spastic diplegia, Spastic tetraplegia, Specific learning disability, Strabismus, Supernumerary ribs, Tracheoesophageal fistula, Ventricular septal defect, Vertebral fusion, Vertebral hypoplasia, Visual impairment, Visual loss
OPC	MYBL1	2.492102857	0.000193658	Transcription regulatory protein	Eurexp|euxassay_019606|adrenal gland, neural retina, olfactory, testis, ventricular layer, vomeronasal organ;BrainSpMouseDev|17631	OMIM|159405
OPC	KIF13A	1.915033312	0.00020089	Motor protein	BrainSpLMD|63971;Eurexp|euxassay_011388|anterior, bladder, dorsal root ganglion, external, facial VII, incisor, left lung, mantle layer, molar, naso-lacrimal duct, oral epithelium, pharyngo-tympanic tube, right lung, submandibular gland primordium, urethra	OMIM|605433
OPC	PKP4	1.271684699	0.000222124	Cell junction protein	BrainSpLMD|8502	OMIM|604276
OPC	PIK3R1	0.472888085	0.000228988	Adapter molecule	BrainSpLMD|5295;Eurexp|euxassay_003253|incisor, lobe, ventricular layer, vibrissa;BrainSpMouseDev|18473	OMIM|171833;COSMIC||glioblastoma, ovarian, colorectal;HPO|5295|Abnormality of dental enamel, Abnormality of the immune system, Abnormality of the pupil, Agammaglobulinemia, Alopecia, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Birth length less than 3rd percentile, Cataract, Chronic otitis media, Clinodactyly, Conjunctivitis, Cough, Decreased antibody level in blood, Deeply set eye, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Dental malocclusion, Diabetes mellitus, Diarrhea, Dimple chin, Downturned corners of mouth, Enlarged epiphyses, Excessive wrinkled skin, Failure to thrive, Fatigue, Fever, Frontal bossing, Glaucoma, Glucose intolerance, Hyperglycemia, Hypodontia, Hypoplasia of the iris, Hypotrichosis, Immunodeficiency, Infantile onset, Inguinal hernia, Insulin resistance, Insulin-resistant diabetes mellitus, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Lipoatrophy, Lipodystrophy, Macrotia, Megalocornea, Microdontia, Micrognathia, Midface retrusion, Myopia, Neurological speech impairment, Neutropenia, Osteomyelitis, Poor appetite, Premature skin wrinkling, Prominent forehead, Radial deviation of finger, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent skin infections, Rieger anomaly, Sensorineural hearing impairment, Severe short stature, Sinusitis, Skin rash, Small for gestational age, Telecanthus, Thin skin, Triangular face, Underdeveloped nasal alae, Weight loss, Wide nasal bridge
OPC	SPRY2	1.837356554	0.000232816	Unclassified	BrainSpLMD|10253	OMIM|602466
OPC	UNC80	0.999518003	0.000247628	Unclassified	BrainSpLMD|285175	SFARI||Autism, 4 - Minimal evidence;OMIM|612636;HPO|285175|Anteverted nares, Autosomal recessive inheritance, Brachycephaly, Broad forehead, Bulbous nose, Constipation, Epicanthus, Failure to thrive in infancy, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global brain atrophy, High forehead, Intellectual disability, profound, Low-set ears, Nystagmus, Open mouth, Osteopenia, Plagiocephaly, Posteriorly rotated ears, Profound static encephalopathy, Prominent forehead, Prominent nasal bridge, Prominent nose, Ptosis, Short neck, Short philtrum, Smooth philtrum, Spasticity, Tapered finger, Thin upper lip vermilion, Triangular face
OPC	PLOD2	2.341018823	0.00025893	Enzyme: Hydroxylase	BrainSpLMD|5352;Eurexp|euxassay_008722|axial skeleton, basisphenoid bone, clavicle, exoccipital bone, mesenchyme, nasal septum, otic capsule, petrous part, rib, sternum, tongue, trachea, turbinate	OMIM|601865;HPO|5352|Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Elbow flexion contracture, Femoral bowing, Flexion contracture, Hydroxyprolinuria, Increased susceptibility to fractures, Inguinal hernia, Joint stiffness, Knee flexion contracture, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes equinovarus, Triangular face, Wormian bones
OPC	SPCS3	1.104760189	0.000259645	Protease	BrainSpLMD|60559	
OPC	MARCKS	0.470040661	0.000260353	Cytoskeletal protein	BrainSpLMD|4082	OMIM|177061
OPC	PGM3	1.513036788	0.000262125	Enzyme: Mutase	BrainSpLMD|5238	OMIM|172100;HPO|5238|Allergic rhinitis, Asthma, Ataxia, Autosomal recessive inheritance, Bronchiectasis, Cognitive impairment, Conductive hearing impairment, Cortical myoclonus, Dysarthria, Eczema, Generalized hypotonia, Global developmental delay, High palate, Immunodeficiency, Intellectual disability, Lymphopenia, Neutropenia, Recurrent respiratory infections, Scoliosis, Sensorineural hearing impairment, Sensory impairment, Vasculitis in the skin
OPC	CTTNBP2	1.021307205	0.00026695	Unclassified	BrainSpLMD|83992;Eurexp|euxassay_015493|dorsal grey horn, limb, mantle layer, penis, thalamus;BrainSpMouseDev|29776	SFARI||Autism, 3 - Suggestive evidence;OMIM|609772
OPC	HSD17B12	1.084514232	0.000279621	Enzyme: Dehydrogenase	BrainSpLMD|51144	OMIM|609574
OPC	MTND4P12	0.870302169	0.00029205			
OPC	CPT1A	1.192713543	0.000297707	Enzyme: Palmitoyltransferase	BrainSpLMD|1374;Eurexp|euxassay_017982|adrenal gland, bladder, choroid plexus, dorsal root ganglion, glossopharyngeal IX, hindgut, intermediate grey horn, mantle layer, meninges, metanephros, midgut, pancreas, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|600528;HPO|1374|Arrhythmia, Autosomal recessive inheritance, Behavioral abnormality, Cardiomegaly, Coma, Diarrhea, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Fatigue, Feeding difficulties in infancy, Generalized hypotonia, Hemiplegia/hemiparesis, Hepatic failure, Hepatic steatosis, Hepatomegaly, Hyperammonemia, Hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Loss of consciousness, Muscular hypotonia, Neurological speech impairment, Prenatal maternal abnormality, Recurrent encephalopathy, Reduced tendon reflexes, Renal tubular acidosis, Seizures, Skeletal muscle atrophy, Transient hyperlipidemia
OPC	LPP	1.876979495	0.000299572	Unclassified	BrainSpLMD|4026	OMIM|600700;COSMIC||lipoma, leukaemia
OPC	SEPW1	0.270119252	0.000314546			
OPC	SORCS3	1.150407683	0.00031872	Cell surface receptor	BrainSpLMD|22986;Eurexp|euxassay_013842|mantle layer, marginal layer	OMIM|606285
OPC	NLGN1	1.449862769	0.000318888	Adhesion molecule	BrainSpLMD|22871	SFARI||Autism, 3 - Suggestive evidence;OMIM|600568
OPC	SFT2D1	1.374166116	0.000329903	Integral membrane protein	BrainSpLMD|113402	
OPC	SLC25A5	1.530998495	0.00033644	Integral membrane protein		OMIM|300150
OPC	PCDH11Y	1.013354724	0.000356966	Adhesion molecule	BrainSpLMD|83259	OMIM|400022
OPC	PPP2R2B	0.322489357	0.000378092	Regulatory/other subunit;Serine/threonine phosphatase	BrainSpLMD|5521;Eurexp|euxassay_007301|Meckel's cartilage, brain, eyelid, facial VII, glossopharyngeal IX, inner ear, left lung, neural retina, orbito-sphenoid, right lung, skeletal muscle, spinal cord, tongue, trigeminal V, turbinate, vagus X, vestibulocochlear VIII	OMIM|604325;HPO|5521|Abnormality of eye movement, Action tremor, Anxiety, Autosomal dominant inheritance, Axial dystonia, Cerebellar atrophy, Cerebral cortical atrophy, Delusions, Dementia, Depressivity, Dysarthria, Dysdiadochokinesis, Dysmetria, Facial myokymia, Head tremor, Hyperreflexia, Parkinsonism, Progressive cerebellar ataxia, Sensorimotor neuropathy
OPC	NOMO1	1.671265164	0.000385524	Growth inhibitory factor		OMIM|609157
OPC	FOXN2	1.599800309	0.000385728	DNA binding protein	BrainSpLMD|3344;Eurexp|euxassay_019499|incisor, liver, lung, mandible, mantle layer, marginal layer, maxilla, molar, submandibular gland primordium, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|14013	OMIM|143089
OPC	RAB9A	2.067620415	0.000392896	Unclassified	BrainSpLMD|9367;Eurexp|euxassay_006722|embryo	OMIM|300284
OPC	COL9A2	0.2815069	0.000403304	Extracellular matrix protein	BrainSpLMD|1298;Eurexp|euxassay_000512|axial skeleton, cervical region, cranium, lumbar region, mesenchyme, otic capsule, pectoral girdle and thoracic body wall, rib, sacral region, thoracic region, turbinate bones	OMIM|120260;HPO|1298|Abnormality of epiphysis morphology, Amblyopia, Arthralgia, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Childhood onset, Cleft palate, Epiphyseal dysplasia, Flat face, Flattened epiphysis, Gait disturbance, Genu valgum, Genu varum, Heterogeneous, Hip dysplasia, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Knee osteoarthritis, Limitation of joint mobility, Malar flattening, Micrognathia, Micromelia, Mild short stature, Myopia, Osteoarthritis, Platyspondyly, Retinal detachment, Sensorineural hearing impairment, Severe Myopia, Short palm, Short stature, Small epiphyses, Vitreoretinal degeneration, Waddling gait
OPC	TENC1	1.416658297	0.000408707			
OPC	ACTN4	0.542843179	0.000412689	Cytoskeletal protein	BrainSpLMD|81	SFARI||Autism, No category;OMIM|604638;HPO|81|Anemia, Autosomal dominant inheritance, Edema, Focal segmental glomerulosclerosis, Hyperlipidemia, Hypertension, Hypoalbuminemia, Incomplete penetrance, Proteinuria, Slow progression, Variable expressivity
OPC	BPNT1	1.692319593	0.00042437	Enzyme: Esterase	BrainSpLMD|10380	OMIM|604053
OPC	SMAD5	0.862184622	0.000438882	Transcription regulatory protein	BrainSpLMD|4090;Eurexp|euxassay_019553|incisor, lung, mantle layer, metanephros, molar, saccule, spleen primordium, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|16899	OMIM|603110
OPC	KIAA1244	1.299340552	0.000439322			
OPC	ABHD2	0.966603286	0.00044298	Enzyme: Hydrolase	BrainSpLMD|11057;Eurexp|euxassay_002585|adrenal gland, choroid plexus, cochlea, dorsal root ganglion, lateral recess, lung, naris, neural retina, olfactory, penis, respiratory, stomach, stroma, submandibular gland primordium, trigeminal V, vestibulocochlear VIII	OMIM|612196
OPC	ETV1	1.305244062	0.000498763	Transcription factor	BrainSpLMD|2115;BrainSpMouseDev|13786	OMIM|600541;COSMIC||Ewing sarcoma, prostate
OPC	GLCCI1	1.010950057	0.000521642	Unclassified	BrainSpLMD|113263;Eurexp|euxassay_014439|axial skeleton, nasal septum, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|82074	OMIM|614283
OPC	UBL3	0.663395589	0.000555012	Ubiquitin proteasome system protein	BrainSpLMD|5412	OMIM|604711
OPC	ARSB	0.422897287	0.000562718	Enzyme: Sulphatase	BrainSpLMD|411	OMIM|611542;HPO|411|Abnormality of the heart valves, Anterior wedging of L1, Anterior wedging of L2, Autosomal recessive inheritance, Broad ribs, Cardiomyopathy, Cervical myelopathy, Coarse facial features, Constrictive median neuropathy, Depressed nasal bridge, Dermatan sulfate excretion in urine, Disproportionate short-trunk short stature, Dolichocephaly, Dysostosis multiplex, Epiphyseal dysplasia, Flared iliac wings, Genu valgum, Glaucoma, Hearing impairment, Hepatomegaly, Hip dysplasia, Hirsutism, Hydrocephalus, Hypoplasia of the odontoid process, Hypoplastic acetabulae, Hypoplastic iliac wing, Inguinal hernia, Joint stiffness, Lumbar hyperlordosis, Macrocephaly, Macroglossia, Metaphyseal irregularity, Metaphyseal widening, Opacification of the corneal stroma, Ovoid vertebral bodies, Prominent sternum, Recurrent upper respiratory tract infections, Splenomegaly, Split hand, Umbilical hernia
OPC	CLDND1	1.027478595	0.000567554	Unclassified	BrainSpLMD|56650;Eurexp|euxassay_006238|embryo	
OPC	C1orf21	1.247663363	0.000609441	Unclassified	BrainSpLMD|81563;Eurexp|euxassay_004907|adrenal gland, brain, dorsal root ganglion, glossopharyngeal IX, limb, lung, metanephros, midgut, olfactory, otic capsule, pharyngo-tympanic tube, pituitary, respiratory, retina, spinal cord, sternum, stomach, tail, thymus primordium, trigeminal V, vestibulocochlear VIII, vibrissa	
OPC	ALDH6A1	1.079717494	0.000611706	Enzyme: Dehydrogenase	BrainSpLMD|4329;Eurexp|euxassay_018815|choroid invagination, naris, nasal septum, otic capsule, turbinate bones, ventricular layer	OMIM|603178;HPO|4329|Abnormal facial shape, Autosomal recessive inheritance, Bulbous nose, Cataract, Delayed myelination, Depressed nasal bridge, Downslanted palpebral fissures, Dystonia, Epicanthus, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Long philtrum, Metabolic acidosis, Microcephaly, Microphthalmia, Muscular hypotonia, Phenotypic variability, Short nose, Tented upper lip vermilion
OPC	CDCA7L	0.657338385	0.00061517	Transcription factor	BrainSpLMD|55536;Eurexp|euxassay_003467|adenohypophysis, epidermis, fundus region, glomeruli, hindgut, left lung, lobe, lumen, lung, marginal layer, midgut, neural retina, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, respiratory, right lung, stomach, submandibular gland primordium, testis, thymus primordium, trachea, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|85297	OMIM|609685
OPC	KHSRP	2.057547533	0.000667435	Transcription regulatory protein	BrainSpLMD|8570	OMIM|603445
OPC	GUCY1B3	1.564880594	0.000686038			
OPC	SCG3	1.262036294	0.000689365	Secreted polypeptide	BrainSpLMD|29106;Eurexp|euxassay_015685|adrenal gland, autonomic, basal columns, bladder, brain, central nervous system, cerebellum, cerebral cortex, cervical, cervico-thoracic, cranial, diencephalon, dorsal root ganglion, facial VII, forebrain, ganglion, glossopharyngeal IX, gut, heart, hindbrain, intraventricular portion, lateral wall, left lung, lung, mantle layer, marginal layer, maxillary division, medulla, metanephros, midbrain, nerve plexus, neural retina, renal/urinary system, retina, spinal, spinal cord, stomach, sympathetic, telencephalon, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20018	OMIM|611796
OPC	PCMTD2	0.540161303	0.000715801	Enzyme: Methyltransferase	BrainSpLMD|55251	
OPC	FAM66C	2.8740386	0.000753421			
OPC	FRMD6	0.635200378	0.000757752	Unclassified	BrainSpLMD|122786;Eurexp|euxassay_002791|basal plate, lung, submandibular gland primordium, thymus primordium, vibrissa	OMIM|614555
OPC	RP5.857K21.11	0.858100771	0.00079631			
OPC	ZNF462	0.674394057	0.000809669	Transcription regulatory protein	BrainSpLMD|58499;Eurexp|euxassay_016001|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, incisor, inner ear, mandible, mantle layer, mesenchyme, metanephros, molar, neural retina, penis, pharyngo-tympanic tube, submandibular gland primordium, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|88953	SFARI||Autism, 4 - Minimal evidence;OMIM|617371
OPC	FLRT1	1.773934721	0.000831213	Adhesion molecule	BrainSpLMD|23769;Eurexp|euxassay_008157|mantle layer, olfactory, ventral grey horn	OMIM|604806
OPC	PRKCA	1.02817081	0.000891922	Serine/threonine kinase	BrainSpLMD|5578	OMIM|176960
OPC	RPS7P11	0.731315104	0.000916006			
OPC	TCF7L1	1.478295954	0.000920024	Transcription regulatory protein	BrainSpLMD|83439;BrainSpMouseDev|21176	OMIM|604652
OPC	USP2	0.585242616	0.000956052	Ubiquitin proteasome system protein	BrainSpLMD|9099	OMIM|604725
OPC	HIPK2	1.731455385	0.000960089	Serine/threonine kinase	BrainSpLMD|28996	OMIM|606868
OPC	FGFBP3	1.350447774	0.000969314	Unclassified	BrainSpLMD|143282;Eurexp|euxassay_000173|basal columns, basal plate, corpus striatum, floor plate, floorplate, mantle layer, metencephalon, spinal cord, ventral grey horn, ventricular layer	SFARI||Autism, 5 - Hypothesized but untested
OPC	RIN2	0.973106327	0.001015167	Guanine nucleotide exchange factor	BrainSpLMD|54453	OMIM|610222;HPO|54453|Abnormality of the sternum, Alopecia, Autosomal recessive inheritance, Bruising susceptibility, Coarse facial features, Cognitive impairment, Cutis laxa, Decreased body weight, Downslanted palpebral fissures, Eclabion, Gingival overgrowth, High palate, High pitched voice, Hirsutism, Hyperextensible skin, Infra-orbital fold, Irregular dentition, Joint hypermobility, Long philtrum, Muscular hypotonia, Palpebral edema, Pes planus, Prolonged bleeding time, Redundant skin, Scoliosis, Short stature, Sparse and thin eyebrow, Sparse hair, Sparse scalp hair, Thick lower lip vermilion, Umbilical hernia, Upper eyelid edema
OPC	EMC10	0.603938105	0.001036011	Unclassified	BrainSpLMD|284361	OMIM|614545
OPC	MT.ATP6	0.291162905	0.001054348			
OPC	RSU1	1.191487319	0.001071638	Unclassified	BrainSpLMD|6251	OMIM|179555
OPC	KIZ	0.897891848	0.001079241	Unclassified	BrainSpLMD|55857;Eurexp|euxassay_013723|mantle layer, marginal layer, olfactory, thyroid, ventricular layer	OMIM|615757;HPO|55857|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Pigmentary retinopathy, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Undetectable electroretinogram, Wide nasal bridge
OPC	ZC3HAV1	0.790022691	0.001101283	-	BrainSpLMD|56829;Eurexp|euxassay_012472|lobe, thymus primordium	OMIM|607312
OPC	HSPA5	0.550311372	0.001132913	Chaperone	BrainSpLMD|3309	OMIM|138120
OPC	NAPEPLD	1.512673062	0.001175728	Enzyme: Phospholipase	BrainSpLMD|222236	OMIM|612334
OPC	TM7SF3	1.483253779	0.001176224	Integral membrane protein	BrainSpLMD|51768	OMIM|605181
OPC	MAGI1	1.020885308	0.001201755	Cell junction protein	BrainSpLMD|9223;Eurexp|euxassay_016214|axial skeleton, clavicle, femur, fibula, humerus, pelvic girdle, rib, scapula, tibia	OMIM|602625
OPC	RNF157	1.706065693	0.001251153	Ubiquitin proteasome system protein		
OPC	TJP1	1.005267376	0.001275024	Cell junction protein	BrainSpLMD|7082;Eurexp|euxassay_018809|brain, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, left lung, meninges, metanephros, right lung, spinal cord, trigeminal V	OMIM|601009
OPC	LAPTM4B	0.955202122	0.001295571	Unclassified	BrainSpLMD|55353;Eurexp|euxassay_001940|basal plate, choroid plexus, dorsal root ganglion, incisor, lateral recess, mantle layer, submandibular gland primordium, trigeminal V, ventral grey horn, vestibulocochlear VIII;BrainSpMouseDev|76980	OMIM|613296
OPC	PHLPP1	0.92978862	0.001295718	Unclassified	BrainSpLMD|23239;Eurexp|euxassay_010722|ventricular layer	OMIM|609396
OPC	GOLIM4	0.624758758	0.00130411	Integral membrane protein	BrainSpLMD|27333	OMIM|606805
OPC	CACNB2	1.163190403	0.001401079	Voltage gated channel	BrainSpLMD|783;Eurexp|euxassay_008283|epithalamus, marginal layer, ventricular layer	SFARI||Autism, 3 - Suggestive evidence;OMIM|600003;HPO|783|Atrial fibrillation, Autosomal dominant inheritance, Shortened QT interval, Syncope
OPC	KLHL42	1.475064903	0.001402155	Unclassified	BrainSpLMD|57542;Eurexp|euxassay_013105|olfactory	
OPC	TUBB4A	1.493040782	0.001410046	Cytoskeletal protein	BrainSpLMD|10382;Eurexp|euxassay_018005|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602662
OPC	ATP6V0E1	0.419694523	0.00143874	ATPase	BrainSpLMD|8992;Eurexp|euxassay_002321|Meckel's cartilage, basisphenoid bone, orbito-sphenoid, turbinate	OMIM|603931
OPC	E2F3	1.151372144	0.001501706	Transcription factor	BrainSpLMD|1871;BrainSpMouseDev|13336	OMIM|600427
OPC	PCBP4	0.749715355	0.001532944	RNA binding protein	BrainSpLMD|57060;Eurexp|euxassay_004531|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|608503
OPC	NME1	0.579238815	0.001540327	Enzyme: Phosphotransferase	BrainSpLMD|4830	OMIM|156490;HPO|4830|Abdominal pain, Abnormality of the thorax, Anemia, Ataxia, Autosomal dominant inheritance, Bone pain, Diarrhea, Elevated urinary dopamine, Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Failure to thrive, Fever, Ganglioneuroblastoma, Ganglioneuroma, Heterogeneous, Horner syndrome, Hypertension, Incomplete penetrance, Myoclonus, Neuroblastoma, Opsoclonus, Skin nodule, Spinal cord compression, Sporadic, Weight loss
OPC	SRPRB	0.698373007	0.001563659	GTPase	BrainSpLMD|58477;Eurexp|euxassay_010365|basioccipital bone, clavicle, femur, humerus, mandible, maxilla, naris, orbito-sphenoid, rib, sternum, tibia, turbinate bones	OMIM|616883
OPC	CHIC2	0.579177345	0.001640868	Integral membrane protein	BrainSpLMD|26511	OMIM|604332;COSMIC||AML
OPC	RP11.307L3.2	0.888274621	0.001750635			
OPC	DAG1	1.459775527	0.001831456	Adhesion molecule	BrainSpLMD|1605	OMIM|128239;HPO|1605|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Absent septum pellucidum, Absent speech, Agenesis of corpus callosum, Ankle contracture, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Autosomal recessive inheritance, Buphthalmos, Cataract, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral calcification, Chorioretinal dysplasia, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Delayed speech and language development, Elevated serum creatine phosphokinase, Generalized hypotonia, Glaucoma, Global developmental delay, Gowers sign, Hydrocephalus, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hyporeflexia, Infantile onset, Intellectual disability, Leukodystrophy, Limb-girdle muscle weakness, Lissencephaly, Lumbar hyperlordosis, Macrocephaly, Macrogyria, Metatarsus valgus, Microphthalmia, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Myopia, Optic atrophy, Pachygyria, Polymicrogyria, Poor head control, Respiratory failure, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Skeletal muscle atrophy, Specific learning disability, Variable expressivity, Ventriculomegaly
OPC	DENND5A	0.678625104	0.00184144	Unclassified	BrainSpLMD|23258	OMIM|617278
OPC	GPR56	0.875362845	0.001876032			
OPC	RPS27L	0.365067638	0.001890553	Unclassified	BrainSpLMD|51065;Eurexp|euxassay_013950|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, pancreas, primitive seminiferous tubules, rest of mesenchyme, right lung, skeletal muscle, submandibular gland primordium, thymus primordium, tongue, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|612055
OPC	ZNF516	0.908564108	0.001929542	DNA binding protein	BrainSpLMD|9658;Eurexp|euxassay_019569|metanephros, olfactory, pituitary, testis, ventricular layer, vomeronasal organ;BrainSpMouseDev|108583	OMIM|615114
OPC	DST	0.864434897	0.001947842	Cytoskeletal associated protein	BrainSpLMD|667;Eurexp|euxassay_016245|incisor, molar, oesophagus, olfactory, oral epithelium, stomach, urethra, vibrissa;BrainSpMouseDev|13297	SFARI||Autism, 4 - Minimal evidence;OMIM|113810;HPO|667|Alacrima, Apnea, Areflexia, Atrophic scars, Autosomal recessive inheritance, Blotching pigmentation of the skin, Bradycardia, Corneal scarring, Feeding difficulties, Fever, Flexion contracture, Growth delay, Hand clenching, Hyperhidrosis, Limited hip extension, Neonatal hypotonia, Open mouth, Respiratory insufficiency, Sensory neuropathy, Tachycardia, Talipes equinovarus
OPC	MED11	1.260852017	0.00194955	Unclassified	BrainSpLMD|400569	OMIM|612383
OPC	EDIL3	0.881435919	0.001964971	Extracellular matrix protein	BrainSpLMD|10085	OMIM|606018
OPC	DDAH1	0.841306549	0.001973224	Enzyme: Hydrolase	BrainSpLMD|23576;Eurexp|euxassay_003952|mantle layer, ventral grey horn, ventricular layer	OMIM|604743
OPC	FABP5P7	0.393617492	0.001986543			
OPC	CUTC	1.226785581	0.002097054	Unclassified	BrainSpLMD|51076	OMIM|610101
OPC	NTRK2	1.005330014	0.002136057	Receptor tyrosine kinase	BrainSpLMD|4915;BrainSpMouseDev|17979	OMIM|600456;HPO|4915|Autosomal dominant inheritance, Facial asymmetry, Obesity, Polyphagia, Severe global developmental delay, Stereotypy
OPC	PID1	0.94323809	0.002141451	Unclassified	BrainSpLMD|55022	OMIM|612930
OPC	TAF2	0.420075511	0.002173252	Transcription factor	BrainSpLMD|6873	OMIM|604912;HPO|6873|Autosomal recessive inheritance, Babinski sign, Delayed myelination, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Intellectual disability, Microcephaly, Poor speech, Postnatal microcephaly, Spasticity
OPC	SETD5	1.145125338	0.002186244	Unclassified	BrainSpLMD|55209	SFARI||Autism, 1 - High confidence;OMIM|615743;HPO|55209|Abnormally low-pitched voice, Anteverted nares, Anxiety, Astigmatism, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Clinodactyly of the 5th finger, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Downturned corners of mouth, Drooling, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hyperlordosis, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphosis, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phthisis bulbi, Premature birth, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Scoliosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Strabismus, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Upslanted palpebral fissure, Vesicoureteral reflux, Widely spaced teeth
OPC	MYT1	0.862899326	0.002192662	Transcription factor	BrainSpLMD|4661;Eurexp|euxassay_005418|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, nerve, neural retina, olfactory, respiratory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|17699	OMIM|600379
OPC	LINC01105	1.43642054	0.002212299		BrainSpLMD|150622	
OPC	BMP7	1.742799417	0.002371411	Ligand	BrainSpLMD|655;BrainSpMouseDev|11948	OMIM|112267
OPC	LRRTM4	0.794945361	0.00241498	Integral membrane protein	BrainSpLMD|80059;Eurexp|euxassay_013925|mantle layer, marginal layer, tegmentum	OMIM|610870
OPC	CAT	0.522266348	0.002486727	Enzyme: Oxidoreductase	BrainSpLMD|847	OMIM|115500;HPO|847|Autosomal recessive inheritance, Oral ulcer, Reduced catalase activity
OPC	HSD17B7P2	0.500634686	0.002489824		BrainSpLMD|158160	
OPC	VCAN	0.283193857	0.002563738	Extracellular matrix protein	BrainSpLMD|1462	OMIM|118661;HPO|1462|Autosomal dominant inheritance, Cataract, Chorioretinal atrophy, Glaucoma, Myopia, Optic atrophy, Optically empty vitreous, Peripheral traction retinal detachment, Retinal pigment epithelial atrophy, Visual field defect, Visual loss, Vitreoretinal degeneration
OPC	STARD4	1.379741134	0.002582826	Unclassified	BrainSpLMD|134429;Eurexp|euxassay_008767|hindgut, midgut, rectum	OMIM|607049
OPC	ITM2B	0.53465493	0.002712813	Integral membrane protein	BrainSpLMD|9445	OMIM|603904;HPO|9445|Ataxia, Autosomal dominant inheritance, Cerebral amyloid angiopathy, Dementia, Hearing impairment, Hypertonia, Intention tremor, Neurofibrillary tangles, Optic disc pallor, Photophobia, Posterior polar cataract, Progressive neurologic deterioration, Psychosis, Retinal dystrophy, Rigidity, Spasticity, Tremor
OPC	RP11.887P2.3	1.378810446	0.002846882			
OPC	ACP1	0.788600634	0.003005972	Enzyme: Acid phosphatase	BrainSpLMD|52;Eurexp|euxassay_003011|calyces, chondrocranium, incisor, lobe, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|171500
OPC	B3GAT2	1.657895825	0.00311053	Enzyme: Transferase;Integral membrane protein	BrainSpLMD|135152;BrainSpMouseDev|93607	OMIM|607497
OPC	MAP2	0.266206366	0.003113266	Cytoskeletal associated protein	BrainSpLMD|4133;Eurexp|euxassay_015099|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|17523	SFARI||Autism, 5 - Hypothesized but untested;OMIM|157130
OPC	IL6ST	1.479563718	0.003248781	Cytokine receptor	BrainSpLMD|3572;BrainSpMouseDev|15968	OMIM|600694;COSMIC||hepatocellular carcinoma
OPC	UIMC1	0.821730242	0.003346585	Transcription regulatory protein	BrainSpLMD|51720	OMIM|609433
OPC	FARP2	1.208199274	0.00351528	Cytoskeletal protein	BrainSpLMD|9855	OMIM|617586
OPC	TNRC6C	0.899008546	0.003591187	RNA binding protein	BrainSpLMD|57690	OMIM|610741
OPC	SKIL	0.621905755	0.003603248	Unclassified	BrainSpLMD|6498	OMIM|165340
OPC	TMEM163	1.634587346	0.003771351	Unclassified	BrainSpLMD|81615	
OPC	DENR	0.768548345	0.003791188	Unclassified	BrainSpLMD|8562	SFARI||Autism, 3 - Suggestive evidence;OMIM|604550
OPC	GNB4	1.038319564	0.003794597	G protein	BrainSpLMD|59345;Eurexp|euxassay_006820|aortic valve, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, mitral valve, neural retina, pulmonary valve, thoracic, tricuspid valve, trigeminal V, vagus X, valve, ventral grey horn;BrainSpMouseDev|14472	OMIM|610863;HPO|59345|Autosomal dominant inheritance, Axonal regeneration, Distal sensory impairment, Hammertoe, Hyporeflexia, Onion bulb formation, Pes cavus, Slow progression, Steppage gait
OPC	TMEFF2	1.316113168	0.003812479	Integral membrane protein	BrainSpLMD|23671;Eurexp|euxassay_000710|basal plate, cochlear component, dorsal root ganglion, facial VII, inferior, mesenchyme, superior, trigeminal V, vestibular component	OMIM|605734
OPC	B2M	0.589641615	0.003833439	MHC complex protein	BrainSpLMD|567	OMIM|109700;COSMIC||DLBCL, melanoma, colorectal adenocarcinoma, Immunodeficiency 43;HPO|567|Autonomic bladder dysfunction, Autonomic dysregulation, Autosomal dominant inheritance, Autosomal recessive inheritance, Bowel incontinence, Bronchiectasis, Cholestasis, Chronic constipation, Chronic diarrhea, Edema, Gastrointestinal dysmotility, Gastrointestinal hemorrhage, Generalized amyloid deposition, Hematuria, Hepatomegaly, Hypertension, Hypoalbuminemia, Hypoplasia of the ulna, Hypoproteinemia, IgG deficiency, Intermittent diarrhea, Keratoconjunctivitis sicca, Malabsorption, Nephropathy, Nephrotic syndrome, Orthostatic hypotension due to autonomic dysfunction, Proteinuria, Radial bowing, Recurrent respiratory infections, Skin rash, Splenomegaly, Variable expressivity, Vertigo, Weight loss, Xerostomia
OPC	XKR4	1.382488417	0.0038484	Integral membrane protein		
OPC	ZEB1	1.117624921	0.003937396	Transcription factor	BrainSpLMD|6935;Eurexp|euxassay_015398|central nervous system, meninges, vertebral axis muscle system;BrainSpMouseDev|21178	OMIM|189909;COSMIC||CCRCC, melanoma;HPO|6935|Autosomal dominant inheritance, Corneal dystrophy, Corneal guttata
OPC	LDHBP2	0.284564001	0.004058586			
OPC	MRPL32	1.51065322	0.004067901	Ribosomal subunit	BrainSpLMD|64983	OMIM|611839
OPC	CADM4	0.658986163	0.004152121	Unclassified	BrainSpLMD|199731	OMIM|609744
OPC	LEPROT	0.747606405	0.004177985	Integral membrane protein		OMIM|613461
OPC	FNTA	0.258065515	0.004344758	Enzyme: Transferase	BrainSpLMD|2339	OMIM|134635
OPC	NDUFB3	1.158303016	0.004419998	Enzyme: Oxidoreductase	BrainSpLMD|4709	OMIM|603839;HPO|4709|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
OPC	PRDX3	0.780295567	0.004426869	Enzyme: Peroxidase	BrainSpLMD|10935;Eurexp|euxassay_006583|adrenal gland, liver, ovary, thymus primordium, thyroid	OMIM|604769
OPC	PDE1C	0.973807106	0.004515652	Enzyme: Phosphodiesterase	BrainSpLMD|5137;BrainSpMouseDev|18341	SFARI||Autism, No category;OMIM|602987
OPC	GABPB1.AS1	0.336677372	0.004536666			
OPC	CDH13	0.772115537	0.004576893	Adhesion molecule	BrainSpLMD|1012;Eurexp|euxassay_011981|Meckel's cartilage, dorsal root ganglion, femur, fibula, handplate, humerus, lip, mantle layer, marginal layer, phalanx, scapula, tarsus, tibia, trigeminal V, vagus X;BrainSpMouseDev|12339	OMIM|601364
OPC	COPB2	0.972350347	0.004641464	Transport/cargo protein	BrainSpLMD|9276;Eurexp|euxassay_003332|cervical, cervico-thoracic, glomeruli, incisor, left, marginal layer, olfactory, right, submandibular gland primordium, testis, thoracic, thymus primordium, ventricular layer, vibrissa	OMIM|606990
OPC	WDR83OS	0.819007432	0.004755359	Integral membrane protein	BrainSpLMD|51398	
OPC	SNX7	1.275562117	0.004842533	Unclassified	BrainSpLMD|51375	OMIM|614904
OPC	LINGO1	0.594436556	0.005084778	Unclassified	BrainSpLMD|84894	OMIM|609791
OPC	SCD	0.85286614	0.005085299	Enzyme: Oxidoreductase	BrainSpLMD|6319;Eurexp|euxassay_012236|adrenal gland, axial skeleton, basal columns, cervico-thoracic, clavicle, dorsal root ganglion, ductus deferens, embryo, facial VII, glossopharyngeal IX, hindgut, incisor, larynx, lens, lobe, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, neural retina, nucleus pulposus, orbito-sphenoid, otic capsule, pancreas, petrous part, pharyngo-tympanic tube, pituitary, rectum, rib, skeletal muscle, stomach, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, turbinate, urethra, vagus X, vault of skull, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|604031
OPC	RALYL	1.90554533	0.005235283	RNA binding protein	BrainSpLMD|138046;Eurexp|euxassay_006099|brain, spinal cord, trigeminal V	OMIM|614648
OPC	SCARB2	0.384570399	0.005254717	Cell surface receptor	BrainSpLMD|950;Eurexp|euxassay_009131|embryo	OMIM|602257;HPO|950|Abdominal pain, Anemia, Anorexia, Aseptic necrosis, Autosomal recessive inheritance, Bone pain, Bruising susceptibility, Cerebellar atrophy, Delayed puberty, Delayed skeletal maturation, Dysarthria, Dysphagia, EEG with polyspike wave complexes, Focal segmental glomerulosclerosis, Gait ataxia, Generalized seizures, Gingival bleeding, Hepatomegaly, Hypersplenism, Increased bone mineral density, Intention tremor, Kyphosis, Limb ataxia, Morning myoclonic jerks, Myoclonus, Nephropathy, Nephrotic syndrome, Osteolysis, Osteopenia, Pancytopenia, Postural tremor, Proteinuria, Rapidly progressive, Renal insufficiency, Splenomegaly, Thrombocytopenia
OPC	ATCAY	1.026459262	0.005327709	Integral membrane protein	BrainSpLMD|85300;Eurexp|euxassay_004136|brain, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, midgut, neural retina, olfactory, spinal cord, stomach, telencephalon, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608179;HPO|85300|Autosomal recessive inheritance, Broad-based gait, Dysarthria, Gait ataxia, Generalized hypotonia, Global developmental delay, Intention tremor, Nystagmus
OPC	TMX3	0.851146208	0.00534518	Enzyme: Oxidoreductase	BrainSpLMD|54495	OMIM|616102
OPC	RP11.168J18.6	0.299836223	0.00536114			
OPC	HSP90B1	0.72263959	0.00542858	Heat shock protein	BrainSpLMD|7184;Eurexp|euxassay_000099|body-wall mesenchyme, dermis, epidermis, nucleus pulposus	OMIM|191175
OPC	PHLDA1	0.758721861	0.005449245	Transcription factor	BrainSpLMD|22822;Eurexp|euxassay_008411|anterior, axial skeleton, bladder, cartilaginous ring, cornea, diaphragm, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, hepatic duct, hindgut, incisor, inner ear, left lung, liver, mantle layer, medulla, meninges, metanephros, midgut, molar, naso-lacrimal duct, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, right lung, skeletal muscle, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, tongue, trigeminal V, ureter, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|605335
OPC	CFLAR	0.753298644	0.005624042	Adapter molecule	BrainSpLMD|8837;Eurexp|euxassay_005593|axial skeleton, cervical, cervico-thoracic, choroid plexus, dorsal root ganglion, facial VII, foregut-midgut junction, hindgut, lateral recess, limb, mantle layer, marginal layer, midgut, stomach, thoracic, trigeminal V, vagus X, ventricular layer;BrainSpMouseDev|12418	OMIM|603599
OPC	NDUFAF2	1.052502345	0.005662802	Unclassified	BrainSpLMD|91942	OMIM|609653;HPO|91942|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, CNS demyelination, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Dysarthria, Dystonia, Emotional lability, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Gliosis, Global developmental delay, Growth delay, Hepatic failure, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Phenotypic variability, Pigmentary retinopathy, Progressive, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
OPC	LCORL	1.210173563	0.005699976	Transcription factor	BrainSpLMD|254251	OMIM|611799
OPC	SSFA2	1.659119003	0.005723394	Unclassified	BrainSpLMD|6744	OMIM|118990
OPC	PHYHIPL	0.385537939	0.005725591	Unclassified;Integral membrane protein	BrainSpLMD|84457;Eurexp|euxassay_002109|brain, dorsal root ganglion, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	
OPC	FABP5	0.42099204	0.005747247	Transport/cargo protein	Eurexp|euxassay_002194|axial skeleton, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lobe, molar, naris, thoracic, thymus primordium, trigeminal V, vagus X, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|605168
OPC	C1orf61	0.908051207	0.005826308	Transcription regulatory protein	BrainSpLMD|10485	
OPC	WASF1	1.037216345	0.005839176	Adapter molecule	BrainSpLMD|8936;Eurexp|euxassay_004192|brain, dorsal root ganglion, glossopharyngeal IX, incisor, molar, spinal cord, trigeminal V, vagus X	OMIM|605035
OPC	STXBP3	1.223242421	0.005877464	Transport/cargo protein	BrainSpLMD|6814	OMIM|608339
OPC	DGKB	1.546844776	0.005968409	Lipid Kinase	BrainSpLMD|1607;Eurexp|euxassay_009581|anterior abdominal wall, mantle layer, ventricular layer	OMIM|604070
OPC	RALGPS2	1.121791669	0.005992611	Guanine nucleotide exchange factor	BrainSpLMD|55103;Eurexp|euxassay_004996|bladder, brain, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, incisor, molar, rest of mesenchyme, retina, skeletal muscle, spinal cord, stomach, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	
OPC	TENM1	0.756457883	0.006103578	Integral membrane protein	BrainSpLMD|10178	OMIM|300588
OPC	BCAT1	0.672873486	0.006141562	Enzyme: Aminotransferase	BrainSpLMD|586;Eurexp|euxassay_010499|brain, clavicle, facial VII, incisor, mandible, nasal septum, neural retina, orbito-sphenoid, rib, spinal cord, tongue, trigeminal V, turbinate bones;BrainSpMouseDev|11821	OMIM|113520
OPC	YIPF6	0.856800171	0.006176959	Unclassified	BrainSpLMD|286451	OMIM|300996
OPC	MTPAP	0.691517048	0.006250922	RNA polymerase	BrainSpLMD|55149;Eurexp|euxassay_002898|lobe	OMIM|613669;HPO|55149|Autosomal recessive inheritance, Babinski sign, Delayed speech and language development, Dysarthria, Hyporeflexia, Nystagmus, Optic atrophy, Slow progression, Spastic ataxia, Spastic paraparesis
OPC	LITAF	1.071661137	0.006376904	Transcription factor	BrainSpLMD|9516;Eurexp|euxassay_013657|axial skeleton, incisor, molar, submandibular gland primordium, urethra, ventricular layer, vestibular component, vibrissa	OMIM|603795;HPO|9516|Autosomal dominant inheritance, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Juvenile onset, Onion bulb formation, Pes cavus, Segmental peripheral demyelination/remyelination
OPC	GRIA4	0.924207626	0.006417859	Extracellular ligand gated channel	BrainSpLMD|2893;Eurexp|euxassay_006297|bladder, brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, ductus deferens, facial VII, incisor, loop, medulla, metanephros, molar, neural retina, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|14578	OMIM|138246
OPC	2-Sep	1.14135419	0.006676993			
OPC	GCC2	0.707806915	0.00669563	Structural protein	BrainSpLMD|9648	OMIM|612711
OPC	PTPLAD1	0.712115477	0.006702749			
OPC	DSTN	0.548172671	0.006739701	Cytoskeletal associated protein	BrainSpLMD|11034;Eurexp|euxassay_001919|atrium, bladder, brain, cervico-thoracic, dorsal root ganglion, epidermis, epithelium, glossopharyngeal IX, hindgut, midgut, neural retina, oesophagus, olfactory, oral epithelium, pharyngo-tympanic tube, respiratory, spinal cord, stomach, stroma, submandibular gland primordium, thoracic, thymus primordium, thyroid, trachea, trigeminal V, vagus X, ventricle, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, wall	OMIM|609114
OPC	LNX1	1.333387995	0.006766373	Ubiquitin proteasome system protein	BrainSpLMD|84708	OMIM|609732
OPC	EVI5	1.399267973	0.006792342	Unclassified	BrainSpLMD|7813;Eurexp|euxassay_001717|cervical, cervico-thoracic, lobe;BrainSpMouseDev|13797	OMIM|602942
OPC	TMX1	0.720891057	0.006917697	Enzyme: Oxidoreductase	BrainSpLMD|81542	OMIM|610527
OPC	TUB	0.689514596	0.007012103	Transcription regulatory protein	BrainSpLMD|7275	OMIM|601197;HPO|7275|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Astigmatism, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Myopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal dystrophy, Sensorineural hearing impairment, Visual impairment, Wide nasal bridge
OPC	MYO10	1.070662334	0.00720245	Motor protein	BrainSpLMD|4651;Eurexp|euxassay_009373|mantle layer, marginal layer, thymus primordium, trigeminal V, ventricular layer	OMIM|601481
OPC	ABI1	1.119657126	0.007257856	Adapter molecule	BrainSpLMD|10006	OMIM|603050;COSMIC||AML
OPC	FBXO7	1.659847274	0.007501031	Ubiquitin proteasome system protein	BrainSpLMD|25793;Eurexp|euxassay_000818|dorsal root ganglion, gall bladder, liver, trigeminal V, vagus X	OMIM|605648;HPO|25793|Abnormality of extrapyramidal motor function, Autosomal recessive inheritance, Babinski sign, Bradykinesia, Dysarthria, Dystonia, Hyperreflexia, Hypomimic face, Lower limb spasticity, Parkinsonism with favorable response to dopaminergic medication, Postural instability, Rigidity, Scissor gait, Slow progression, Slow saccadic eye movements, Talipes equinovarus, Tremor, Young adult onset
OPC	PPAP2B	1.591919631	0.007707625			
OPC	KIAA0232	0.505371497	0.00791191	Unclassified	BrainSpLMD|9778	
OPC	KCND3	1.037894839	0.00799844	Voltage gated channel	BrainSpLMD|3752	OMIM|605411;HPO|3752|Autosomal dominant inheritance, Cerebellar atrophy, Dysarthria, Dysphagia, Gait ataxia, Gaze-evoked horizontal nystagmus, Hyporeflexia, Intermittent microsaccadic pursuits, Limb ataxia, Myoclonus, Palpitations, Postural tremor, Progressive cerebellar ataxia, Slow progression, Truncal ataxia
OPC	TNFRSF21	0.599697769	0.00805095	Cell surface receptor	BrainSpLMD|27242;Eurexp|euxassay_012361|anterior, brain, calyces, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, lip, meninges, mesenchyme, olfactory, pelvis, posterior, right lung, spinal cord, stomach, trigeminal V, ureter, utricle, vagus X, vestibulocochlear VIII	OMIM|605732
OPC	BLM	1.06723681	0.008112441	DNA binding protein	BrainSpLMD|641	OMIM|604610;COSMIC||leukaemia, lymphoma, skin squamous cell, other tumour types;HPO|641|Abnormality of chromosome stability, Agenesis of maxillary lateral incisor, Autosomal recessive inheritance, Azoospermia, Bronchiectasis, Cafe-au-lait spot, Chromosome breakage, Chronic lung disease, Clinodactyly of the 5th finger, Cryptorchidism, Cutaneous photosensitivity, Decreased fertility in females, Delayed skeletal maturation, Diarrhea, Dolichocephaly, Erythema, Facial telangiectasia in butterfly midface distribution, Hand polydactyly, High pitched voice, Hypertrichosis, Hypoplasia of the zygomatic bone, IgA deficiency, IgG deficiency, IgM deficiency, Intrauterine growth retardation, Leukemia, Lymphoma, Malar flattening, Microcephaly, Narrow face, Postnatal growth retardation, Prominent nose, Protruding ear, Recurrent respiratory infections, Short nose, Short stature, Sinusitis, Specific learning disability, Spotty hyperpigmentation, Spotty hypopigmentation, Squamous cell carcinoma, Syndactyly, Type II diabetes mellitus
OPC	FAR2P2	1.98369099	0.008114345			
OPC	ZNF385D	0.658255604	0.008150754	DNA binding protein	BrainSpLMD|79750	
OPC	RAP2C	0.414313568	0.008234708	GTPase	BrainSpLMD|57826	
OPC	TMEM132B	0.265913091	0.008353259	Integral membrane protein		
OPC	DPP6	1.611630473	0.008370882	Membrane transport protein	BrainSpLMD|1804;Eurexp|euxassay_004610|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, intervertebral disc, neural retina, olfactory, pelvis, spinal cord, stroma, trigeminal V, vagus X, vertebral cartilage condensation, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|126141;HPO|1804|Alternating esotropia, Amblyopia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Chorioretinal degeneration, Decreased body weight, Delayed skeletal maturation, Intellectual disability, Microcephaly, Reduced number of teeth, Scoliosis, Short stature
OPC	UBE3B	0.913037194	0.008460788	Ubiquitin proteasome system protein	BrainSpLMD|89910	SFARI||Autism, 5 - Hypothesized but untested;OMIM|608047;HPO|89910|Absent eyebrow, Arachnodactyly, Autosomal recessive inheritance, Bell-shaped thorax, Blepharophimosis, Brachycephaly, Carious teeth, Clinodactyly of the 5th finger, Clitoral hypertrophy, Constipation, Diastema, Epicanthus, Failure to thrive, Feeding difficulties, Flat occiput, Generalized hypotonia, Global developmental delay, Growth delay, High palate, High, narrow palate, Intellectual disability, Laryngeal stridor, Long face, Long foot, Long palm, Metatarsus adductus, Microcephaly, Microcornea, Microdontia, Micrognathia, Muscle flaccidity, Myopia, Narrow face, Narrow palm, Neonatal respiratory distress, Nystagmus, Optic atrophy, Optic disc pallor, Ovoid vertebral bodies, Preauricular skin tag, Ptosis, Respiratory distress, Respiratory failure, Retrognathia, Short nose, Short palpebral fissure, Short philtrum, Single transverse palmar crease, Smooth philtrum, Sparse and thin eyebrow, Specific learning disability, Strabismus, Telecanthus, Thin eyebrow, Thin upper lip vermilion, Thin vermilion border, Upslanted palpebral fissure, Wide mouth
OPC	SAR1B	0.513317637	0.008711951	GTPase	BrainSpLMD|51128;Eurexp|euxassay_005974|embryo	OMIM|607690;HPO|51128|Abdominal distention, Abnormality of blood and blood-forming tissues, Abnormality of the eye, Abnormality of vitamin metabolism, Autosomal recessive inheritance, Decreased circulating low-density lipoprotein levels, Diarrhea, Elevated hepatic transaminases, Failure to thrive, Growth delay, Hypoalbuminemia, Hypocholesterolemia, Impaired vibratory sensation, Increased hepatocellular lipid droplets, Infantile onset, Intellectual disability, Malnutrition, Reduced tendon reflexes, Retinopathy, Steatorrhea, Vomiting
OPC	FAM84A	1.727986935	0.008857262	Unclassified	BrainSpLMD|151354;Eurexp|euxassay_003388|respiratory, submandibular gland primordium, urethra, vibrissa	OMIM|611234
OPC	ZADH2	1.117000527	0.008978404	Enzyme: Dehydrogenase	BrainSpLMD|284273	
OPC	GUCD1	1.404636612	0.009236163	Unclassified	BrainSpLMD|83606;Eurexp|euxassay_010826|lobe, metanephros	
OPC	ZNF37A	0.714483628	0.009316628	DNA binding protein	BrainSpLMD|7587	OMIM|616085
OPC	IQSEC1	1.425716566	0.009611857	Guanine nucleotide exchange factor	BrainSpLMD|9922;Eurexp|euxassay_014196|mantle layer, naris, orbito-sphenoid, otic capsule, turbinate bones, ventricular layer, vestibulocochlear VIII	OMIM|610166
OPC	NOC3L	1.62009963	0.009698351	Unclassified	BrainSpLMD|64318;Eurexp|euxassay_001504|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, nucleus pulposus, olfactory, thoracic, trigeminal V, urethra, vagus X, ventral grey horn	OMIM|610769
OPC	7-Sep	0.676112178	0.009699248			
OPC	STARD7	0.60053198	0.009701878	Unclassified	BrainSpLMD|56910	OMIM|616712
OPC	TP53INP1	0.516479968	0.009966259	Cell cycle control protein	BrainSpLMD|94241	OMIM|606185
Astrocyte	AQP4	4.664217532	0	Water channel	BrainSpLMD|361;Eurexp|euxassay_004747|hindbrain, lung, metanephros, midbrain, olfactory, pancreas, spinal cord, stomach, trigeminal V, ventral grey horn, ventricular layer;BrainSpMouseDev|11616	OMIM|600308
Astrocyte	SPARCL1	4.523297118	0	Secreted polypeptide	BrainSpLMD|8404	SFARI||Autism, 3 - Suggestive evidence;OMIM|606041
Astrocyte	RP11.71N10.1	4.388662649	0			
Astrocyte	AGT	4.36520048	0	Peptide hormone	BrainSpLMD|183;Eurexp|euxassay_011357|axial skeleton, liver;BrainSpMouseDev|11393	OMIM|106150;HPO|183|Anuria, Autosomal recessive inheritance, Hypotension, Microcephaly, Oligohydramnios, Potter facies, Pulmonary hypoplasia, Renotubular dysgenesis, Respiratory insufficiency, Widely patent fontanelles and sutures
Astrocyte	GPR37L1	4.162844646	0	G protein coupled receptor	BrainSpLMD|9283;BrainSpMouseDev|82624	OMIM|617630
Astrocyte	LGR6	4.130506555	0	G protein coupled receptor	BrainSpLMD|59352	OMIM|606653
Astrocyte	KCNJ16	4.063239684	0	Inward rectifier channel	BrainSpLMD|3773;Eurexp|euxassay_000169|floor plate, floorplate, glomeruli, nephrons	OMIM|605722
Astrocyte	MT3	4.024097335	0	Unclassified	BrainSpLMD|4504;Eurexp|euxassay_012667|dorsal root ganglion, glossopharyngeal IX, trigeminal V, ventral grey horn, ventricular layer	OMIM|139255
Astrocyte	NPNT	4.021480259	0	Unclassified	BrainSpLMD|255743;Eurexp|euxassay_007623|choroid plexus, clavicle, diaphragm, incisor, mandible, mantle layer, maxilla, mesenchyme, metanephros, midgut, nasal septum, olfactory, orbito-sphenoid, penis, pericardial cavity, pleural cavity, skeletal muscle, stomach, vault of skull, ventral grey horn, vertebral axis muscle system, vibrissa	OMIM|610306
Astrocyte	AC007682.1	3.973957661	0			
Astrocyte	CSPG5	3.866294009	0	Integral membrane protein	BrainSpLMD|10675	OMIM|606775
Astrocyte	DIO2	3.765826686	0	Enzyme: Oxidoreductase	BrainSpLMD|1734	OMIM|601413
Astrocyte	CXCL14	3.633880483	0	Chemokine	BrainSpLMD|9547	OMIM|604186
Astrocyte	CD9	3.604766004	0	Unclassified	BrainSpLMD|928;Eurexp|euxassay_001933|axial skeleton, bladder, calyces, cervical, cervico-thoracic, foregut-midgut junction, hindgut, lung, midgut, nucleus pulposus, oesophagus, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, rectum, stomach, submandibular gland primordium, thoracic, thymus primordium, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|12312	OMIM|143030
Astrocyte	ALDOC	3.585216529	0	Enzyme: Lyase	BrainSpLMD|230;Eurexp|euxassay_011944|olfactory, ventricular layer	OMIM|103870
Astrocyte	CST3	3.272432891	0	Protease inhibitor	BrainSpLMD|1471;Eurexp|euxassay_004853|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|12793	OMIM|604312;HPO|1471|Autosomal dominant inheritance, Cerebral amyloid angiopathy, Cerebral hemorrhage, Dementia, Generalized amyloid deposition, Intracranial hemorrhage, Stroke
Astrocyte	GFAP	3.255968674	0	Structural protein	BrainSpLMD|2670;BrainSpMouseDev|14356	OMIM|137780;HPO|2670|Ataxia, Autosomal dominant inheritance, Bulbar signs, Developmental regression, Diffuse demyelination of the cerebral white matter, Hydrocephalus, Increased CSF protein, Infantile onset, Progressive macrocephaly, Seizures, Spasticity
Astrocyte	OLIG1	3.254980386	0	Transcription factor	BrainSpLMD|116448;Eurexp|euxassay_007237|mantle layer, marginal layer, olfactory, ventricular layer;BrainSpMouseDev|30398	OMIM|606385
Astrocyte	EDNRB	3.196699295	0	G protein coupled receptor	BrainSpLMD|1910;Eurexp|euxassay_002855|4th ventricle, bladder, choroid plexus, cochlear component, dorsal root ganglion, ductus deferens, facial VII, foregut-midgut junction, glossopharyngeal IX, heart, hindgut, inferior, intrinsic, lateral recess, loop, mantle layer, meninges, mesenchyme, midgut, oesophagus, rectum, stomach, superior, tail, tongue, trigeminal V, turbinate bones, urethra, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vestibular component, vestibulocochlear VIII;BrainSpMouseDev|13396	OMIM|131244;HPO|1910|Abdominal pain, Abnormal auditory evoked potentials, Abnormal macular morphology, Abnormality of vision, Aganglionic megacolon, Albinism, Ataxia, Autonomic dysregulation, Autosomal dominant inheritance, Autosomal recessive inheritance, Blue irides, Constipation, Global developmental delay, Hearing impairment, Heterochromia iridis, Heterogeneous, Hypopigmentation of the fundus, Hypopigmented skin patches, Intestinal obstruction, Large for gestational age, Leukodystrophy, Muscular hypotonia, Nausea and vomiting, Nystagmus, Olfactory lobe agenesis, Polyneuropathy, Premature graying of hair, Prominent nasal bridge, Sensorineural hearing impairment, Spastic paraparesis, Synophrys, Underdeveloped nasal alae, Weight loss, White eyebrow, White eyelashes, White forelock, Wide nasal bridge
Astrocyte	S100B	3.146788056	0	Calcium binding protein	BrainSpLMD|6285;BrainSpMouseDev|19966	OMIM|176990
Astrocyte	SIRPA	3.103842942	0	Cell surface receptor	BrainSpLMD|140885;Eurexp|euxassay_013621|embryo, floor plate, floorplate, mantle layer, marginal layer	OMIM|602461;COSMIC||HNSCC, colorectal cancer, Lung SCC
Astrocyte	ATP13A4	3.068609305	0	ATPase	BrainSpLMD|84239	OMIM|609556
Astrocyte	SLCO1C1	2.978917287	0	Membrane transport protein	BrainSpLMD|53919;Eurexp|euxassay_007061|4th ventricle, choroid plexus, forebrain, hindbrain, meninges, midbrain, spinal cord, ventricular layer	OMIM|613389
Astrocyte	LUZP2	2.938676731	0	Unclassified	BrainSpLMD|338645;Eurexp|euxassay_015946|marginal layer, ventricular layer	OMIM|608178
Astrocyte	CLDN10	2.932348653	0	Integral membrane protein	BrainSpLMD|9071;Eurexp|euxassay_014336|epithelium, incisor, left lung, metanephros, molar, olfactory, oral epithelium, pancreas, right lung, vibrissa	OMIM|617579
Astrocyte	SPON1	2.919418154	0	Extracellular matrix protein	BrainSpLMD|10418;Eurexp|euxassay_009887|aorta, mandible, mantle layer, marginal layer, maxilla, pharyngo-tympanic tube, ventral grey horn, ventricular layer	OMIM|604989
Astrocyte	BCAN	2.911258027	0	Adhesion molecule	BrainSpLMD|63827;Eurexp|euxassay_018187|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|11818	OMIM|600347
Astrocyte	B3GALTL	2.879356486	0			
Astrocyte	HOPX	2.873478393	0	Transcription regulatory protein	BrainSpLMD|84525;Eurexp|euxassay_010529|anterior, atrium, external, lateral wall, mantle layer, midgut, ventricle, ventricular layer, vibrissa;BrainSpMouseDev|50159	OMIM|607275
Astrocyte	EGFR	2.791105181	0	Receptor tyrosine kinase	BrainSpLMD|1956;Eurexp|euxassay_002564|axial skeleton, cervical region, diaphragm, epidermis, intermediate grey horn, lumbar region, mandible, mantle layer, maxilla, mesenchyme, nasal septum, phalanx, pharyngo-tympanic tube, primary palate, rib, sacral region, thoracic region, trachea, turbinate bones, upper arm, ventricular layer, vibrissa;BrainSpMouseDev|13427	OMIM|131550;COSMIC||glioma, NSCLC, NSCLC;HPO|1956|Alveolar cell carcinoma, Autosomal recessive inheritance, Epidermal acanthosis, Failure to thrive, Hypertension, Long eyelashes, Papule, Pustule, Recurrent bronchiolitis, Recurrent pneumonia, Vomiting
Astrocyte	F3	2.76613705	0	Coagulation factor	BrainSpLMD|2152;Eurexp|euxassay_009157|axial muscle, calyces, epithelium, larynx, left lung, midgut, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, pyloric region, rectum, right lung, ventricular layer, vibrissa	OMIM|134390
Astrocyte	DTNA	2.763936645	0	Unclassified	BrainSpLMD|1837;Eurexp|euxassay_010455|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|601239;HPO|1837|Atrial fibrillation, Autosomal dominant inheritance, Congestive heart failure, Hypoplastic left heart, Left ventricular hypertrophy, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Patent ductus arteriosus, Sudden cardiac death, Ventricular arrhythmia, Ventricular septal defect
Astrocyte	SLC6A11	2.753307354	0	Membrane transport protein	BrainSpLMD|6538;Eurexp|euxassay_019686|intermediate grey horn, lung, mantle layer, ventral grey horn, ventricle, ventricular layer;BrainSpMouseDev|89107	OMIM|607952
Astrocyte	RAB31	2.72502412	0	GTPase	BrainSpLMD|11031;Eurexp|euxassay_003248|axial muscle, basal plate, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, submandibular gland primordium, thoracic, trigeminal V, vagus X, vibrissa	OMIM|605694
Astrocyte	WSCD1	2.629759688	0	Integral membrane protein	BrainSpLMD|23302;Eurexp|euxassay_007047|anterior, brain, calyces, cardiac muscle, ductus deferens, incisor, inner ear, mesenchyme, molar, olfactory, optic II, pelvis, posterior, renal/urinary system, retina, spinal cord, thymus primordium, ureter, vagus X, vertebral axis muscle system, vomeronasal organ	
Astrocyte	ATP1A2	2.602770182	0	ATPase	BrainSpLMD|477;Eurexp|euxassay_001505|brain, cervical, cervico-thoracic, cochlea, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mesenchyme, naris, neural retina, spinal cord, stroma, thoracic, tongue, trigeminal V, turbinate bones, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|62830	OMIM|182340;HPO|477|Abnormality of movement, Aphasia, Apraxia, Ataxia, Autosomal dominant inheritance, Blurred vision, Choreoathetosis, Coma, Confusion, Diplopia, Drowsiness, Dysarthria, Dysphasia, Dystonia, Episodic ataxia, Episodic hemiplegia, Episodic quadriplegia, Fever, Generalized tonic-clonic seizures, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Heterogeneous, Incomplete penetrance, Intellectual disability, Mental deterioration, Migraine with aura, Nystagmus, Seizures, Transient unilateral blurring of vision, Vertigo
Astrocyte	SLC1A2	2.60042783	0	Membrane transport protein	BrainSpLMD|6506;Eurexp|euxassay_009471|brain, spinal cord;BrainSpMouseDev|20273	SFARI||Autism, No category;OMIM|600300;HPO|6506|Autosomal dominant inheritance, Cerebral atrophy, Epileptic encephalopathy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Intellectual disability, profound, Kyphoscoliosis, Neonatal onset, Seizures
Astrocyte	LRIG1	2.538881234	0	Cell surface receptor	BrainSpLMD|26018	OMIM|608868
Astrocyte	HEPACAM	2.512668769	0	Adhesion molecule	BrainSpLMD|220296	SFARI||Autism, No category;OMIM|611642;HPO|220296|Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Cerebral atrophy, Clumsiness, Diffuse spongiform leukoencephalopathy, Diffuse swelling of cerebral white matter, Dysarthria, Generalized hypotonia, Infantile onset, Intellectual disability, Intellectual disability, mild, Macrocephaly, Megalencephaly, Motor delay, Progressive neurologic deterioration, Seizures, Slow progression, Spasticity, Ventriculomegaly
Astrocyte	ATP1B2	2.510402654	0	ATPase	BrainSpLMD|482;Eurexp|euxassay_011653|lobe, pituitary, ventral grey horn, ventricular layer;BrainSpMouseDev|11718	OMIM|182331
Astrocyte	DBI	2.444988195	0	Ligand	BrainSpLMD|1622;BrainSpMouseDev|12947	OMIM|125950
Astrocyte	CCDC80	2.416768149	0	Unclassified	BrainSpLMD|151887	OMIM|608298
Astrocyte	GATM	2.391815109	0	Enzyme: Amidinotransferase	BrainSpLMD|2628;Eurexp|euxassay_005674|diaphragm, footplate, frenulum, handplate, lower leg, paraxial mesenchyme, shoulder, skeletal muscle, upper arm, upper leg, vertebral axis muscle system	SFARI||Autism, No category;OMIM|602360;HPO|2628|Abnormality of creatine metabolism, Autism, Autosomal recessive inheritance, Delayed speech and language development, Failure to thrive, Global developmental delay, Infantile onset, Intellectual disability, Organic aciduria
Astrocyte	PMP2	2.383877675	0	Transport/cargo protein	BrainSpLMD|5375	OMIM|170715
Astrocyte	GLUD1	2.283112568	0	Enzyme: Dehydrogenase	BrainSpLMD|2746	OMIM|138130;HPO|2746|Asymptomatic hyperammonemia, Autosomal dominant inheritance, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability
Astrocyte	TNC	2.28046508	0	Adhesion molecule	BrainSpLMD|3371;Eurexp|euxassay_009501|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, cochlea, cochlear duct, diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, fibula, handplate, humerus, lip, lung, mandible, mantle layer, maxilla, maxillary division, mesenchyme, molar, nasal septum, oesophagus, orbito-sphenoid, palatal shelf, pelvic girdle, penis, pharyngo-tympanic tube, rib, scapula, skeletal muscle, sternum, temporal bone, thymus primordium, tibia, tongue, trigeminal V, vault of skull, ventral grey horn, ventricle, ventricular layer, vibrissa;BrainSpMouseDev|21680	OMIM|187380;COSMIC||SCC, melanoma;HPO|3371|Autosomal dominant inheritance, Hearing impairment
Astrocyte	ABCC9	2.240659503	0	Ion channel	BrainSpLMD|10060	OMIM|601439;HPO|10060|Abnormality of the hand, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Anteverted nares, Autosomal dominant inheritance, Bicuspid aortic valve, Blepharophimosis, Broad first metatarsal, Broad hallux, Broad hallux phalanx, Broad ribs, Bulbous nose, Cardiomegaly, Coarse facial features, Congenital hypertrophy of left ventricle, Congenital, generalized hypertrichosis, Coxa valga, Craniofacial hyperostosis, Cuboid-shaped vertebral bodies, Curly eyelashes, Deep plantar creases, Delayed skeletal maturation, Depressed nasal bridge, Dilated cardiomyopathy, Epicanthus, Erlenmeyer flask deformity of the femurs, Everted lower lip vermilion, Furrowed tongue, Generalized hirsutism, Gingival overgrowth, Highly arched eyebrow, Hypertelorism, Hypoplastic ischiopubic rami, Intellectual disability, mild, Joint hyperflexibility, Large for gestational age, Large hands, Large sella turcica, Long eyelashes, Long nose, Long philtrum, Low anterior hairline, Low posterior hairline, Lymphedema, Macrocephaly, Macroglossia, Metaphyseal widening, Micrognathia, Narrow chest, Osteoporosis, Ovoid vertebral bodies, Palpebral edema, Paroxysmal atrial fibrillation, Patent ductus arteriosus, Pericardial effusion, Platyspondyly, Prominent forehead, Prominent supraorbital ridges, Short distal phalanx of finger, Short hallux, Short neck, Skeletal dysplasia, Sloping forehead, Synophrys, Thick eyebrow, Thick lower lip vermilion, Thick nasal alae, Thick upper lip vermilion, Thick vermilion border, Thickened skin, Umbilical hernia, Wide mouth, Wide nasal bridge, Widened posterior fossa
Astrocyte	SEZ6L	2.22457065	0	Integral membrane protein	BrainSpLMD|23544;Eurexp|euxassay_009459|brain, neural retina, spinal cord	OMIM|607021
Astrocyte	SLC1A3	2.223082243	0	Transport/cargo protein	BrainSpLMD|6507;Eurexp|euxassay_001899|mantle layer, thymus primordium, tongue, ventral grey horn, ventricular layer;BrainSpMouseDev|20274	OMIM|600111;HPO|6507|Autosomal dominant inheritance, Cerebellar hypoplasia, Diplopia, Dysarthria, Episodic ataxia, Generalized hypotonia, Hemiparesis, Hemiplegia, Migraine, Motor delay, Nausea, Phonophobia, Photophobia, Seizures, Slurred speech, Truncal ataxia, Vertigo, Vomiting
Astrocyte	PON2	2.198413273	0	Enzyme: Esterase	BrainSpLMD|5445	OMIM|602447;HPO|5445|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
Astrocyte	SERPINE2	2.162122986	0	Protease inhibitor	BrainSpLMD|5270;Eurexp|euxassay_007870|axial skeleton, dorsal root ganglion, glossopharyngeal IX, incisor, lip, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metatarsus, nasal septum, penis, phalanx, skeletal muscle, sternum, thymus primordium, trigeminal V, turbinate bones, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|177010
Astrocyte	MLC1	2.121876719	0	Membrane transport protein	BrainSpLMD|23209;Eurexp|euxassay_010374|ventricular layer	OMIM|605908;HPO|23209|Ataxia, Autosomal recessive inheritance, Diffuse spongiform leukoencephalopathy, Diffuse swelling of cerebral white matter, Infantile onset, Intellectual disability, mild, Macrocephaly, Megalencephaly, Motor delay, Seizures, Spasticity
Astrocyte	SDC3	1.873516899	0	Cell surface receptor	BrainSpLMD|9672	OMIM|186357
Astrocyte	PTN	1.864365256	0	Cytokine	BrainSpLMD|5764	OMIM|162095
Astrocyte	GPR56	1.78438386	0			
Astrocyte	RP11.492M23.2	1.775502076	0			
Astrocyte	RFTN2	1.772292727	0	Unclassified	BrainSpLMD|130132	
Astrocyte	MTND4P12	1.455894794	0			
Astrocyte	LRRC16A	1.390884824	0			
Astrocyte	C1orf61	1.341274173	0	Transcription regulatory protein	BrainSpLMD|10485	
Astrocyte	ZFP36L1	1.278691794	0	Transcription factor	BrainSpLMD|677;Eurexp|euxassay_007310|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|11978	OMIM|601064
Astrocyte	PTPRZ1	1.868378256	1.11E-16	Receptor tyrosine phosphatase	BrainSpLMD|5803;BrainSpMouseDev|19046	OMIM|176891
Astrocyte	CLU	1.806351413	1.11E-16	Complement protein	BrainSpLMD|1191;BrainSpMouseDev|12543	OMIM|185430
Astrocyte	B2M	1.327466046	1.11E-16	MHC complex protein	BrainSpLMD|567	OMIM|109700;COSMIC||DLBCL, melanoma, colorectal adenocarcinoma, Immunodeficiency 43;HPO|567|Autonomic bladder dysfunction, Autonomic dysregulation, Autosomal dominant inheritance, Autosomal recessive inheritance, Bowel incontinence, Bronchiectasis, Cholestasis, Chronic constipation, Chronic diarrhea, Edema, Gastrointestinal dysmotility, Gastrointestinal hemorrhage, Generalized amyloid deposition, Hematuria, Hepatomegaly, Hypertension, Hypoalbuminemia, Hypoplasia of the ulna, Hypoproteinemia, IgG deficiency, Intermittent diarrhea, Keratoconjunctivitis sicca, Malabsorption, Nephropathy, Nephrotic syndrome, Orthostatic hypotension due to autonomic dysfunction, Proteinuria, Radial bowing, Recurrent respiratory infections, Skin rash, Splenomegaly, Variable expressivity, Vertigo, Weight loss, Xerostomia
Astrocyte	S100A16	3.084719222	2.22E-16	Calcium binding protein	BrainSpLMD|140576;Eurexp|euxassay_004932|bladder, epidermis, hindgut, lung, medulla, metanephros, midgut, naris, oesophagus, olfactory, rectum, stomach, submandibular gland primordium, thymus primordium, urethra, ventricular layer, vibrissa	OMIM|617437
Astrocyte	SLC4A4	2.701473595	2.22E-16	Membrane transport protein	BrainSpLMD|8671;Eurexp|euxassay_019682|floor plate, floorplate, ventricular layer	OMIM|603345;HPO|8671|Autosomal recessive inheritance, Band keratopathy, Bicarbonate-wasting renal tubular acidosis, Cataract, Glaucoma, Growth delay, Hyperchloremic acidosis, Increased red cell osmotic resistance, Intellectual disability, Proximal renal tubular acidosis
Astrocyte	PPAP2B	2.066971398	3.33E-16			
Astrocyte	ALDH1L1	3.977719553	6.66E-16	Enzyme: Dehydrogenase	BrainSpLMD|10840;Eurexp|euxassay_009095|adrenal gland, mantle layer, testis, ventral grey horn, ventricular layer	OMIM|600249
Astrocyte	SLC25A18	2.177573068	6.66E-16	Membrane transport protein	BrainSpLMD|83733	OMIM|609303
Astrocyte	SLITRK2	1.90250343	1.11E-15	Integral membrane protein	BrainSpLMD|84631;Eurexp|euxassay_012159|dorsal root ganglion, facial VII, glossopharyngeal IX, marginal layer, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|300561
Astrocyte	HTRA1	1.667575806	1.33E-15	Serine protease	BrainSpLMD|5654;Eurexp|euxassay_005061|anterior abdominal wall, aorta, axial muscle, axial skeleton, choroid plexus, diaphragm, humerus, incisor, lung, mesenchyme, metatarsus, molar, nucleus pulposus, pancreas, pelvic girdle, pharyngo-tympanic tube, rest of mesenchyme, rest of mesencyme, roof plate, scapula, skeletal muscle, sternum, tongue, trachea, ventricular layer, vibrissa	OMIM|602194;HPO|5654|Abnormality of extrapyramidal motor function, Alopecia, Arteriosclerosis of small cerebral arteries, Ataxia, Autosomal recessive inheritance, Babinski sign, Dementia, Diffuse demyelination of the cerebral white matter, Diffuse white matter abnormalities, Dysarthria, Gait disturbance, Hyperreflexia, Leukoencephalopathy, Low back pain, Progressive encephalopathy, Pseudobulbar signs, Rigidity, Spasticity, Urinary incontinence
Astrocyte	OLIG2	1.955879731	1.44E-15	Transcription factor	BrainSpLMD|10215;Eurexp|euxassay_007187|basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|30397	OMIM|606386;COSMIC||T-ALL
Astrocyte	GRAMD3	3.692712627	1.55E-15			
Astrocyte	RP5.857K21.11	1.105676548	1.78E-15			
Astrocyte	FGF1	4.858730852	2.22E-15	Growth factor	BrainSpLMD|2246;Eurexp|euxassay_007182|bladder, incisor, limb, lung, mesenchyme, metanephros, midgut, stomach, tail, vertebral axis muscle system, vibrissa;BrainSpMouseDev|13941	OMIM|131220
Astrocyte	ZEB1	1.926121562	2.22E-15	Transcription factor	BrainSpLMD|6935;Eurexp|euxassay_015398|central nervous system, meninges, vertebral axis muscle system;BrainSpMouseDev|21178	OMIM|189909;COSMIC||CCRCC, melanoma;HPO|6935|Autosomal dominant inheritance, Corneal dystrophy, Corneal guttata
Astrocyte	STON2	2.056627052	5.11E-15	Unclassified	BrainSpLMD|85439	OMIM|608467
Astrocyte	ZFP36L2	1.690617692	9.33E-15	Transcription factor	BrainSpLMD|678	OMIM|612053
Astrocyte	LRRC4C	3.069999411	1.27E-14	Integral membrane protein	BrainSpLMD|57689	OMIM|608817
Astrocyte	SPATA6	2.553157911	1.63E-14	Unclassified	BrainSpLMD|54558	OMIM|613947
Astrocyte	MT1E	2.205031488	1.68E-14	Transport/cargo protein	BrainSpLMD|4493	OMIM|156351
Astrocyte	TRIL	2.373751448	2.00E-14		BrainSpLMD|9865	OMIM|613356
Astrocyte	HES1	1.688884399	2.23E-14	Transcription factor	BrainSpLMD|3280;Eurexp|euxassay_019489|epithelium, floor plate, floorplate, hindgut, incisor, larynx, lung, metanephros, metatarsus, midgut, molar, neural retina, oesophagus, olfactory, oral epithelium, pancreas, phalanx, pharyngo-tympanic tube, skeleton, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|14981	OMIM|139605
Astrocyte	GABBR1	2.201421359	3.45E-14	G protein coupled receptor	BrainSpLMD|2550;Eurexp|euxassay_009799|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|33684	OMIM|603540
Astrocyte	GJA1	2.955877004	3.80E-14	Membrane transport protein	BrainSpLMD|2697;BrainSpMouseDev|14385	OMIM|121014;HPO|2697|2-4 toe cutaneous syndactyly, 3-4 toe syndactyly, 4-5 finger syndactyly, Abnormal blistering of the skin, Abnormal cortical bone morphology, Abnormality of dental enamel, Abnormality of dental morphology, Abnormality of the cerebral white matter, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormality of the nasopharynx, Abnormality of the thorax, Absent middle phalanx of 5th finger, Alopecia, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the middle phalanges of the hand, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Basal ganglia calcification, Blepharophimosis, Bony paranasal bossing, Brachycephaly, Broad alveolar ridges, Broad columella, Broad long bones, Camptodactyly of finger, Carious teeth, Cataract, Cerebral calcification, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Club-shaped distal femur, Coarse facial features, Conductive hearing impairment, Congenital alopecia totalis, Congestive heart failure, Cranial hyperostosis, Craniofacial hyperostosis, Cubitus valgus, Curly hair, Cutaneous photosensitivity, Cyanosis, Delayed eruption of permanent teeth, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Depressed nasal bridge, Diabetes mellitus, Downslanted palpebral fissures, Dry hair, Dry skin, Dysarthria, Dystrophic fingernails, Epicanthus, Epidermal acanthosis, Erythema, External ear malformation, Facial hyperostosis, Facial palsy, Failure to thrive, Fifth finger distal phalanx clinodactyly, Fine hair, Finger syndactyly, Fingernail dysplasia, First degree atrioventricular block, Flared metaphysis, Fragile nails, Frontal bossing, Gait disturbance, Generalized hyperkeratosis, Glaucoma, High forehead, High-grade hypermetropia, Hip dislocation, Hyperactive deep tendon reflexes, Hypergranulosis, Hypermelanotic macule, Hyperreflexia, Hypertelorism, Hypoplasia of dental enamel, Hypoplasia of teeth, Hypoplasia of the maxilla, Hypoplastic aortic arch, Hypoplastic left heart, Hypotelorism, Hypotrichosis, Infantile onset, Inlet ventricular septal defect, Intellectual disability, Joint contracture of the 5th finger, Large earlobe, Long nose, Long philtrum, Low-set ears, Macrocephaly, Macrodontia of permanent maxillary central incisor, Mandibular prognathia, Median cleft lip, Metaphyseal dysplasia, Microcephaly, Microcornea, Microdontia, Micrognathia, Microphthalmia, Mild global developmental delay, Mixed hearing impairment, Muscle weakness, Myopia, Nail dysplasia, Narrow mouth, Narrow nasal bridge, Narrow nose, Nasal obstruction, Neurogenic bladder, Optic atrophy, Osteopetrosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Paraparesis, Patchy palmoplantar keratoderma, Patchy sclerosis of finger phalanx, Persistent pupillary membrane, Phenotypic variability, Premature loss of primary teeth, Premature loss of teeth, Primum atrial septal defect, Prominent epicanthal folds, Pulmonary arterial hypertension, Reduced number of teeth, Seizures, Selective tooth agenesis, Short 5th finger, Short foot, Short middle phalanx of the 5th finger, Short nose, Short palpebral fissure, Short stature, Skeletal dysplasia, Skin rash, Slow-growing hair, Small hand, Sparse eyelashes, Sparse hair, Spastic paraparesis, Spasticity, Telecanthus, Tetraparesis, Thin anteverted nares, Thin vermilion border, Toe syndactyly, Underdeveloped nasal alae, Vertebral hyperostosis, Visual impairment, Weight loss, Wide nasal bridge
Astrocyte	SLC15A2	2.48056325	3.86E-14	Membrane transport protein	BrainSpLMD|6565	OMIM|602339
Astrocyte	PCDH10	1.043521686	7.28E-14	Adhesion molecule	BrainSpLMD|57575;Eurexp|euxassay_016446|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, rib, trigeminal V, ventral grey horn;BrainSpMouseDev|18292	SFARI||Autism, 4 - Minimal evidence;OMIM|608286
Astrocyte	FKBP10	0.71574614	8.35E-14	Unclassified	BrainSpLMD|60681	OMIM|607063;HPO|60681|Abnormality of the skin, Ankle contracture, Aplasia/Hypoplasia of the patella, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Biconcave vertebral bodies, Blue sclerae, Brachycephaly, Coxa vara, Dentinogenesis imperfecta, Elbow flexion contracture, Elevated alkaline phosphatase, Gait disturbance, Hip contracture, Increased susceptibility to fractures, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Protrusio acetabuli, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes, Talipes equinovarus, Triangular face, Vertebral compression fractures, Vertebral wedging, Wormian bones
Astrocyte	GLUL	2.083231652	9.75E-14	Enzyme: Aminotransferase	BrainSpLMD|2752;BrainSpMouseDev|14421	OMIM|138290;HPO|2752|Apnea, Autosomal recessive inheritance, Bradycardia, Brain atrophy, CNS hypomyelination, Depressed nasal bridge, Encephalopathy, Generalized hypotonia, Hyperammonemia, Hyperreflexia, Hypoplasia of the corpus callosum, Low-set ears, Periventricular cysts, Respiratory insufficiency, Seizures, Severe global developmental delay, Skin rash, Subependymal cysts, Ventriculomegaly, Wide nasal bridge
Astrocyte	NDRG2	2.111179134	1.63E-13	Enzyme: Hydrolase	BrainSpLMD|57447;Eurexp|euxassay_018237|anterior, choroid plexus, cricoid, dorsal root ganglion, facial VII, femur, glossopharyngeal IX, humerus, mantle layer, naris, nasal septum, otic capsule, phalanx, rectum, rib, sternum, thyroid, trigeminal V, turbinate bones, vagus X, ventricle, ventricular layer, vestibulocochlear VIII	OMIM|605272
Astrocyte	SALL3	1.18029707	1.93E-13	DNA binding protein	BrainSpLMD|27164;Eurexp|euxassay_010911|cochlea, glomeruli, inner ear, lip, mantle layer, medulla oblongata, palatal shelf, penis, utricle, valve, ventricular layer;BrainSpMouseDev|20451	OMIM|605079
Astrocyte	MYO10	1.282844258	1.96E-13	Motor protein	BrainSpLMD|4651;Eurexp|euxassay_009373|mantle layer, marginal layer, thymus primordium, trigeminal V, ventricular layer	OMIM|601481
Astrocyte	TTYH1	1.094193932	2.39E-13	Ion channel	BrainSpLMD|57348;Eurexp|euxassay_018316|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|37048	OMIM|605784
Astrocyte	QKI	1.238659657	3.10E-13	RNA binding protein	BrainSpLMD|9444;Eurexp|euxassay_012259|diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, lens, lung, mandible, mantle layer, marginal layer, maxilla, meninges, midgut, neural retina, orbito-sphenoid, petrous part, skeletal muscle, stomach, submandibular gland primordium, turbinate, vault of skull, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|609590;COSMIC||angiocentric glioma, colorectal cancer
Astrocyte	TSPAN7	1.971487336	3.66E-13	Cell surface receptor	BrainSpLMD|7102;Eurexp|euxassay_015336|bladder, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, midgut, neural retina, pancreas, thoracic, trigeminal V, vagus X, ventricular layer, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|300096;HPO|7102|Intellectual disability, Intellectual disability, mild, X-linked recessive inheritance
Astrocyte	8-Sep	1.382231239	5.94E-13			
Astrocyte	ZCCHC24	2.720323195	6.52E-13	DNA binding protein	BrainSpLMD|219654	
Astrocyte	SLC38A3	2.490507164	7.70E-13	Membrane transport protein	BrainSpLMD|10991;Eurexp|euxassay_019715|brain, lung, pancreas, pericardium, spinal cord	OMIM|604437
Astrocyte	DNER	1.636519952	7.75E-13	Cell surface receptor	BrainSpLMD|92737;Eurexp|euxassay_003135|axial skeleton, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, extrinsic ocular muscle, facial VII, foregut-midgut junction, glossopharyngeal IX, head mesenchyme, hindbrain, hindgut, limb, mantle layer, marginal layer, mesenchyme, midbrain, midgut, neural retina, nucleus pulposus, olfactory, penis, skeletal muscle, spinal cord, stomach, stroma, tail, thoracic, tongue, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|86552	SFARI||Autism, 4 - Minimal evidence;OMIM|607299
Astrocyte	LIX1	2.213988622	8.54E-13	Unclassified	BrainSpLMD|167410	OMIM|610466
Astrocyte	ITPR2	2.547944481	8.93E-13	Transport/cargo protein	BrainSpLMD|3709;Eurexp|euxassay_013833|mantle layer	OMIM|600144;HPO|3709|Anhidrosis, Autosomal recessive inheritance, Generalized anhidrosis, Heat intolerance
Astrocyte	SASH1	2.142063358	9.45E-13	Adapter molecule	BrainSpLMD|23328	OMIM|607955
Astrocyte	RFX4	2.217939342	1.27E-12	DNA binding protein	BrainSpLMD|5992;Eurexp|euxassay_005798|ventricular layer;BrainSpMouseDev|46978	OMIM|603958
Astrocyte	MTRNR2L8	1.345919956	1.50E-12			
Astrocyte	SLC7A11	2.102409693	1.86E-12	Membrane transport protein	BrainSpLMD|23657;Eurexp|euxassay_012149|choroid invagination, lens, meninges, olfactory, ventricular layer	OMIM|607933
Astrocyte	ITGA6	2.239358489	2.25E-12	Cell surface receptor	BrainSpLMD|3655;Eurexp|euxassay_012071|cortex, incisor, lung, mantle layer, metanephros, molar, pancreas, penis, rectum, ventral grey horn, ventricle	OMIM|147556;HPO|3655|Abdominal distention, Abnormality of the genitourinary system, Anonychia, Aplasia cutis congenita, Aplasia of the bladder, Arthrogryposis multiplex congenita, Atrophic scars, Autosomal recessive inheritance, Axillary pterygia, Congenital onset, Congenital pyloric atresia, Death in infancy, Ectropion, Elevated maternal serum alpha-fetoprotein, Esophageal atresia, Fragile skin, Hematuria, Hydronephrosis, Hypoplasia of dental enamel, Intestinal atresia, Intractable diarrhea, Junctional split, Milia, Nail dysplasia, Nail dystrophy, Nausea and vomiting, Oral mucosal blisters, Polyhydramnios, Recurrent skin infections, Renal duplication, Renal dysplasia, Ureterocele, Urethral stricture, Urinary bladder inflammation
Astrocyte	PSAT1	1.672181226	2.40E-12	Enzyme: Aminotransferase	BrainSpLMD|29968;Eurexp|euxassay_001596|cranium, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|610936;HPO|29968|Abnormality of the philtrum, Abnormality of the pinna, Absent septum pellucidum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Broad foot, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cleft palate, Congenital onset, Dandy-Walker malformation, Decreased fetal movement, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Feeding difficulties in infancy, Global developmental delay, High palate, Hypertelorism, Hypertonia, Hypoglycinemia, Hypogonadism, Hyposerinemia, Ichthyosis, Infantile onset, Intrauterine growth retardation, Lack of skin elasticity, Large hands, Lissencephaly, Low-set ears, Macrogyria, Macrotia, Microcephaly, Micrognathia, Muscle cramps, Muscular dystrophy, Opisthotonus, Pachygyria, Polyhydramnios, Polymicrogyria, Postnatal microcephaly, Proptosis, Rocker bottom foot, Scoliosis, Seizures, Short neck, Skeletal muscle atrophy, Sloping forehead, Thick vermilion border, Trismus
Astrocyte	LRRTM3	2.21172142	2.45E-12	Integral membrane protein	BrainSpLMD|347731;Eurexp|euxassay_006601|lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, midgut, palatal shelf, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|610869
Astrocyte	LGI1	2.961610262	2.92E-12	Unclassified	BrainSpLMD|9211;Eurexp|euxassay_008470|brain, diaphragm, neural retina, olfactory, skeletal muscle, spinal cord, vertebral axis muscle system	OMIM|604619;HPO|9211|Auditory auras, Autosomal dominant inheritance, Focal seizures with impairment of consciousness or awareness, Focal seizures without impairment of consciousness or awareness, Generalized tonic-clonic seizures with focal onset, Incomplete penetrance
Astrocyte	FAM107A	2.0629485	2.99E-12	Unclassified	BrainSpLMD|11170;Eurexp|euxassay_005179|inner ear, olfactory	OMIM|608295
Astrocyte	IGDCC4	1.626493066	3.37E-12	Cell surface receptor	BrainSpLMD|57722;Eurexp|euxassay_007736|diaphragm, footplate, handplate, mantle layer, mesenchyme, oesophagus, rest of mesenchyme, skeletal muscle, tongue, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|616810
Astrocyte	SCRG1	1.14295791	3.81E-12	Unclassified	BrainSpLMD|11341;Eurexp|euxassay_007430|axial skeleton, glossopharyngeal IX, left lung, metatarsus, nasal septum, oesophagus, orbito-sphenoid, phalanx, right lung, sternum, temporal bone, trigeminal V, turbinate	OMIM|603163
Astrocyte	ETV1	1.444440364	5.37E-12	Transcription factor	BrainSpLMD|2115;BrainSpMouseDev|13786	OMIM|600541;COSMIC||Ewing sarcoma, prostate
Astrocyte	MAP3K1	2.207170315	7.08E-12	Serine/threonine kinase	Eurexp|euxassay_011095|calyces, incisor, larynx, mantle layer, molar, naris, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, renal/urinary system, sublingual gland primordium, submandibular gland primordium, thyroid, vibrissa	OMIM|600982;COSMIC||luminal A breast, 46, XY sex reversal 6;HPO|4214|Abnormal sex determination, Abnormality of the labia, Abnormality of the scrotum, Ambiguous genitalia, Autosomal dominant inheritance, Azoospermia, Chordee, Clitoral hypertrophy, Cryptorchidism, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Dysgerminoma, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,XY karyotype, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hypergonadotropic hypogonadism, Hypogonadotrophic hypogonadism, Hypoplasia of the vagina, Hypospadias, Male infertility, Male pseudohermaphroditism, Micropenis, Osteoporosis, Polycystic ovaries, Primary amenorrhea, Sex reversal, Sparse axillary hair, Sparse pubic hair, Streak ovary, Testicular dysgenesis, Urogenital sinus anomaly, Vanishing testis
Astrocyte	TRIM47	0.519928061	8.13E-12	Transcription regulatory protein	BrainSpLMD|91107;Eurexp|euxassay_013564|aorta	OMIM|611041
Astrocyte	EFHD2	2.400343565	8.17E-12	Unclassified	BrainSpLMD|79180;Eurexp|euxassay_000316|brain, forebrain, telencephalon	OMIM|616450
Astrocyte	PRNP	2.177587623	8.94E-12	Membrane bound ligand	BrainSpLMD|5621;Eurexp|euxassay_007857|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, mantle layer, metanephros, neural retina, olfactory, thoracic, tongue, trachea, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ;BrainSpMouseDev|18885	OMIM|176640;HPO|5621|Abdominal symptom, Adult onset, Aggressive behavior, Akinetic mutism, Anxiety, Apathy, Aphasia, Apnea, Apraxia, Areflexia, Astrocytosis, Ataxia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Babinski sign, Basal ganglia gliosis, Bradykinesia, Central nervous system degeneration, Cerebellar atrophy, Childhood onset, Chorea, Clumsiness, Confusion, Constipation, Deficit in phonologic short-term memory, Delusions, Dementia, Depressivity, Diffuse spongiform leukoencephalopathy, Diplopia, Dysarthria, Dysautonomia, Dysmetria, Dysphagia, EEG with persistent abnormal rhythmic activity, Emotional lability, Encephalopathy, Extrapyramidal muscular rigidity, Fever, Focal T2 hyperintense basal ganglia lesion, Gait ataxia, Gliosis, Global brain atrophy, Hallucinations, Hemiparesis, Hyperhidrosis, Hyperreflexia, Hypersomnia, Impaired smooth pursuit, Incoordination, Insomnia, Irritability, Jaw pain, Limb ataxia, Loss of facial expression, Lower limb muscle weakness, Memory impairment, Muscle weakness, Myoclonus, Neurofibrillary tangles, Neuronal loss in central nervous system, Parkinsonism, Perseveration, Personality changes, Phenotypic variability, Poor visual behavior for age, Progressive cerebellar ataxia, Progressive extrapyramidal muscular rigidity, Progressive forgetfulness, Psychosis, Rapidly progressive, Restlessness, Rigidity, Seizures, Senile plaques, Short attention span, Sleep disturbance, Slurred speech, Spastic dysarthria, Spastic hemiparesis, Spasticity, Specific learning disability, Stroke-like episode, Supranuclear gaze palsy, Tremor, Truncal ataxia, Unsteady gait, Urinary retention, Visual impairment, Weight loss
Astrocyte	CPT1A	1.529616557	1.01E-11	Enzyme: Palmitoyltransferase	BrainSpLMD|1374;Eurexp|euxassay_017982|adrenal gland, bladder, choroid plexus, dorsal root ganglion, glossopharyngeal IX, hindgut, intermediate grey horn, mantle layer, meninges, metanephros, midgut, pancreas, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|600528;HPO|1374|Arrhythmia, Autosomal recessive inheritance, Behavioral abnormality, Cardiomegaly, Coma, Diarrhea, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Fatigue, Feeding difficulties in infancy, Generalized hypotonia, Hemiplegia/hemiparesis, Hepatic failure, Hepatic steatosis, Hepatomegaly, Hyperammonemia, Hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Loss of consciousness, Muscular hypotonia, Neurological speech impairment, Prenatal maternal abnormality, Recurrent encephalopathy, Reduced tendon reflexes, Renal tubular acidosis, Seizures, Skeletal muscle atrophy, Transient hyperlipidemia
Astrocyte	DPF3	2.643108137	1.06E-11	DNA binding protein	BrainSpLMD|8110;Eurexp|euxassay_003306|mantle layer, marginal layer, neural retina, olfactory, stroma	OMIM|601672
Astrocyte	CSGALNACT1	2.328392842	1.09E-11	Enzyme: Transferase	BrainSpLMD|55790	OMIM|616615
Astrocyte	CPE	1.89603887	1.12E-11	Carboxypeptidase	BrainSpLMD|1363	OMIM|114855
Astrocyte	HAPLN1	3.269489335	1.44E-11	Extracellular matrix protein	BrainSpLMD|1404	OMIM|115435
Astrocyte	PHYHIPL	1.401964946	1.46E-11	Unclassified;Integral membrane protein	BrainSpLMD|84457;Eurexp|euxassay_002109|brain, dorsal root ganglion, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	
Astrocyte	SRI	1.219054851	1.61E-11	Calcium binding protein	BrainSpLMD|6717	OMIM|182520
Astrocyte	SEMA5A	1.605011565	1.72E-11	Unclassified	BrainSpLMD|9037;BrainSpMouseDev|20119	SFARI||Autism, 3 - Suggestive evidence;OMIM|609297;HPO|9037|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
Astrocyte	PEA15	2.069878707	1.73E-11	Transport/cargo protein	BrainSpLMD|8682;Eurexp|euxassay_011580|neural retina, ventral grey horn, ventricular layer	OMIM|603434
Astrocyte	ARAP2	2.464139332	1.80E-11	GTPase activating protein	BrainSpLMD|116984	OMIM|606645
Astrocyte	KAL1	3.123447459	1.93E-11			
Astrocyte	NCAN	1.752985203	1.96E-11	Extracellular matrix protein	BrainSpLMD|1463;Eurexp|euxassay_015922|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, intermediate grey horn, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, ventral grey horn, vestibulocochlear VIII	OMIM|600826
Astrocyte	SLC6A1	2.095188577	2.07E-11	Membrane transport protein	BrainSpLMD|6529;Eurexp|euxassay_018302|brain, glossopharyngeal IX, marginal layer, neural retina, spinal cord, vestibulocochlear VIII;BrainSpMouseDev|87401	SFARI||Autism, 2 - Strong candidate;OMIM|137165;HPO|6529|Abnormal brain FDG positron emission tomography, Absence seizures, Ataxia, Atonic seizures, Autosomal dominant inheritance, Developmental regression, Dysarthria, EEG with abnormally slow frequencies, EEG with spike-wave complexes (>3.5 Hz), Epileptic encephalopathy, Eyelid myoclonus, Intellectual disability, Mental deterioration, Myoclonic atonic seizures, Status epilepticus
Astrocyte	LINC01351	2.429950001	2.38E-11			
Astrocyte	TJP1	1.463329925	2.41E-11	Cell junction protein	BrainSpLMD|7082;Eurexp|euxassay_018809|brain, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, left lung, meninges, metanephros, right lung, spinal cord, trigeminal V	OMIM|601009
Astrocyte	7-Sep	0.971704929	2.64E-11			
Astrocyte	S100A13	1.640335415	2.65E-11	Calcium binding protein	BrainSpLMD|6284	OMIM|601989
Astrocyte	DUSP6	2.100638659	2.74E-11	Dual specificity phosphatase	BrainSpLMD|1848;Eurexp|euxassay_018723|cochlea, cornea, hindgut, incisor, intrinsic, metanephros, midgut, molar, naris, pituitary, primary choana, submandibular gland primordium, tongue, tooth, turbinate bones, vertebral axis muscle system, vibrissa;BrainSpMouseDev|43446	OMIM|602748;HPO|1848|Abnormality of body height, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Anosmia, Anterior hypopituitarism, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Depressivity, Erectile abnormalities, Eunuchoid habitus, Female hypogonadism, Gynecomastia, Hypogonadotrophic hypogonadism, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Increased female libido, Male hypogonadism, Micropenis, Non-obstructive azoospermia, Osteopenia, Osteoporosis, Primary amenorrhea, Reduced bone mineral density, Secondary amenorrhea, Sparse axillary hair, Sparse body hair, Sparse pubic hair, Wide intermamillary distance
Astrocyte	AK4	1.719608965	2.83E-11	Enzyme: Phosphotransferase	BrainSpLMD|205;Eurexp|euxassay_010883|clavicle, hindgut, incisor, midgut, molar, olfactory, rectum, stomach	OMIM|103030
Astrocyte	TRIB2	1.538423591	3.18E-11	Serine/threonine kinase	BrainSpLMD|28951;BrainSpMouseDev|85202	OMIM|609462
Astrocyte	ID2	1.226786915	3.96E-11	Transcription regulatory protein	BrainSpLMD|3398;BrainSpMouseDev|15675	OMIM|600386
Astrocyte	IL17RB	2.82986144	4.95E-11	Cytokine receptor	BrainSpLMD|55540;Eurexp|euxassay_010478|thymus primordium	OMIM|605458
Astrocyte	ADD3	1.475113099	5.45E-11	Cytoskeletal associated protein	BrainSpLMD|120;Eurexp|euxassay_002919|chondrocranium, epithelium, glandular mucous membrane, lumen, mantle layer, pancreas, ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|601568;HPO|120|Abnormal pyramidal signs, Autosomal recessive inheritance, Cognitive impairment, Dysphagia, Exotropia, Global developmental delay, Infantile onset, Microcephaly, Nystagmus, Poor speech, Spastic diplegia, Spastic tetraplegia, Supranuclear gaze palsy, Variable expressivity
Astrocyte	RGCC	2.326325702	6.08E-11	Cell cycle control protein	BrainSpLMD|28984;Eurexp|euxassay_007417|dorsal root ganglion, facial VII, glossopharyngeal IX, left, liver, mandible, mantle layer, marginal layer, maxilla, mesenchyme, right, thymus primordium, thyroid, trigeminal V, ventral grey horn, ventricular layer	OMIM|610077
Astrocyte	ENHO	2.015924042	6.25E-11	Unclassified	BrainSpLMD|375704	
Astrocyte	KAT2B	2.077759591	7.45E-11	Transcription regulatory protein	BrainSpLMD|8850	SFARI||Autism, 2 - Strong candidate;OMIM|602303
Astrocyte	SOX2	0.565606156	9.37E-11	Transcription factor	Eurexp|euxassay_019525|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lung, mantle layer, medulla, midgut, neural retina, oesophagus, olfactory, oral epithelium, pituitary, saccule, stomach, testis, trachea, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|20436	OMIM|184429;COSMIC||NSCLC, oesophageal squamous carcinoma, Microphthalmia and oesophageal atresia syndrome;HPO|6657|Agenesis of corpus callosum, Anophthalmia, Anterior pituitary hypoplasia, Autosomal dominant inheritance, Butterfly vertebrae, Cleft palate, Coloboma, Cryptorchidism, Esophageal atresia, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hemivertebrae, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypospadias, Hypothalamic hamartoma, Microcephaly, Micropenis, Microphthalmia, Missing ribs, Nystagmus, Optic nerve hypoplasia, Patent ductus arteriosus, Postnatal growth retardation, Rib fusion, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Short stature, Spastic diplegia, Spastic tetraplegia, Specific learning disability, Strabismus, Supernumerary ribs, Tracheoesophageal fistula, Ventricular septal defect, Vertebral fusion, Vertebral hypoplasia, Visual impairment, Visual loss
Astrocyte	GNG7	2.654737084	1.07E-10	G protein	BrainSpLMD|2788;Eurexp|euxassay_002997|mantle layer, marginal layer	OMIM|604430
Astrocyte	SFXN5	1.558660055	1.14E-10	Transport/cargo protein	BrainSpLMD|94097;Eurexp|euxassay_014475|ventricular layer	OMIM|615572
Astrocyte	ARHGEF6	2.090291386	1.22E-10	Guanine nucleotide exchange factor	BrainSpLMD|9459	OMIM|300267;HPO|9459|Intellectual disability, X-linked recessive inheritance
Astrocyte	HEY1	2.055136409	1.40E-10	Transcription factor	BrainSpLMD|23462;Eurexp|euxassay_005307|calyces, mandible, maxilla, olfactory, orbito-sphenoid, pituitary, respiratory, thymus primordium, ventricular layer;BrainSpMouseDev|14989	OMIM|602953;COSMIC||mesenchymal chondrosarcoma
Astrocyte	ADRB1	2.452162176	1.90E-10	G protein coupled receptor	BrainSpLMD|153;BrainSpMouseDev|11341	OMIM|109630
Astrocyte	SLC6A9	1.802039754	2.30E-10	Membrane transport protein	BrainSpLMD|6536;Eurexp|euxassay_003521|left, meninges, right, ventral grey horn, ventricular layer	OMIM|601019;HPO|6536|Anteverted nares, Apnea, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Congenital onset, Depressed nasal bridge, Dysphagia, Elbow flexion contracture, Encephalopathy, Exaggerated startle response, Global developmental delay, Hip contracture, Hip dislocation, Hypertonia, Joint laxity, Low-set ears, Myopathic facies, Retrognathia, Talipes equinovarus, Trigonocephaly, Ventriculomegaly
Astrocyte	NADK2	1.367894656	2.91E-10	Unclassified	BrainSpLMD|133686	OMIM|615787;HPO|133686|Autosomal recessive inheritance, Cerebral atrophy, Choreoathetosis, Cortical visual impairment, Death in infancy, Decreased plasma free carnitine, Dystonia, Encephalopathy, Failure to thrive, Global developmental delay, Hyperlysinemia, Leukodystrophy, Microcephaly, Muscular hypotonia, Neonatal hypotonia, Nystagmus, Seizures, Spasticity, Tetraplegia, Ventriculomegaly
Astrocyte	MFGE8	1.24245432	2.99E-10	Adhesion molecule	BrainSpLMD|4240;Eurexp|euxassay_010873|Meckel's cartilage, epithelium, oesophagus, ovary, pharyngo-tympanic tube, stomach, submandibular gland primordium, ventricular layer;BrainSpMouseDev|17073	OMIM|602281
Astrocyte	PAQR8	2.194887072	3.49E-10	Integral membrane protein	BrainSpLMD|85315	OMIM|607780
Astrocyte	NRXN1	0.815249037	4.24E-10	Cell surface receptor	BrainSpLMD|9378;Eurexp|euxassay_005585|arm, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, leg, midbrain, neural retina, olfactory, oral epithelium, respiratory, spinal cord, thoracic, trigeminal V, trunk mesenchyme, vagus X, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17956	SFARI||Autism, 2 - Strong candidate;OMIM|600565;HPO|9378|Autosomal recessive inheritance, Constipation, Drooling, Epileptic encephalopathy, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Hyperventilation, Intellectual disability, severe, Protruding tongue, Pulmonic stenosis, Scoliosis, Strabismus, Wide mouth
Astrocyte	PRCP	2.199055402	5.55E-10	Carboxypeptidase	BrainSpLMD|5547;Eurexp|euxassay_006670|axial muscle, basioccipital bone, lobe, lung, mandible, maxilla, meninges, mesenchyme, orbito-sphenoid, rib, skeletal muscle, thymus primordium	OMIM|176785
Astrocyte	MT2A	1.303487945	5.70E-10	Unclassified	Eurexp|euxassay_004529|left, oesophagus, pancreas, pharyngo-tympanic tube, right, stomach, submandibular gland primordium, thyroid, vibrissa	OMIM|156360
Astrocyte	TLK1	1.697678335	5.94E-10	Serine/threonine kinase	BrainSpLMD|9874	OMIM|608438
Astrocyte	CNN3	1.185763709	6.05E-10	Cytoskeletal associated protein	BrainSpLMD|1266;Eurexp|euxassay_009765|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|602374
Astrocyte	PDGFRA	2.119588138	6.13E-10	Receptor tyrosine kinase	BrainSpLMD|5156;BrainSpMouseDev|18361	OMIM|173490;COSMIC||GIST, idiopathic hypereosinophilic syndrome, paediatric glioblastoma, GIST;HPO|5156|Abnormality of the nervous system, Autosomal dominant inheritance, Constipation, Dysphagia, Endocardial fibrosis, Eosinophilia, Fatigue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Hepatomegaly, Hyperpigmentation of the skin, Intestinal obstruction, Large hands, Myalgia, Myeloproliferative disorder, Nausea and vomiting, Neoplasm of the stomach, Neurofibromas, Pruritus, Pulmonary infiltrates, Restrictive cardiomyopathy, Sarcoma, Somatic mutation, Splenomegaly, Sporadic, Urticaria, Venous thrombosis
Astrocyte	PDLIM5	1.919058018	6.66E-10	Adapter molecule	BrainSpLMD|10611;Eurexp|euxassay_011640|alar columns, axial skeleton, bladder, choroid plexus, clavicle, dorsal grey horn, floor plate, floorplate, mesenchyme, metanephros, midgut, oesophagus, stomach, submandibular gland primordium, trachea, urethra, ventral grey horn, ventricular layer	OMIM|605904
Astrocyte	METTL7A	2.181693891	8.15E-10	Enzyme: Methyltransferase	BrainSpLMD|25840	
Astrocyte	RORA	1.976423749	8.27E-10	Nuclear receptor	BrainSpLMD|6095;Eurexp|euxassay_018175|anterior, dorsal grey horn, external, mantle layer, medulla, thymus primordium, vibrissa;BrainSpMouseDev|19646	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600825
Astrocyte	HMGCS1	1.070501925	9.09E-10	Enzyme: Synthase	BrainSpLMD|3157	OMIM|142940
Astrocyte	ETV5	1.721780278	9.54E-10	Transcription regulatory protein	BrainSpLMD|2119;Eurexp|euxassay_000518|calyces, cranium, incisor, lung, otic capsule, submandibular gland primordium, testis, turbinate bones, ventricular layer;BrainSpMouseDev|68321	OMIM|601600;COSMIC||prostate
Astrocyte	FABP7	1.236514239	1.24E-09	Transport/cargo protein	BrainSpLMD|2173;Eurexp|euxassay_000474|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, rest of cerebellum, trigeminal V, ventral grey horn, ventricular layer	SFARI||Autism, 6 - Evidence does not support role;OMIM|602965
Astrocyte	VIM	0.67654246	1.39E-09	Cytoskeletal protein	BrainSpLMD|7431	OMIM|193060;HPO|7431|Autosomal dominant inheritance, Congenital onset, Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract
Astrocyte	RPL10AP6	2.585306154	1.45E-09			
Astrocyte	BCHE	1.476486765	1.82E-09	Enzyme: Esterase	BrainSpLMD|590;BrainSpMouseDev|11824	OMIM|177400
Astrocyte	FAM181B	3.071205449	1.86E-09	Unclassified	BrainSpLMD|220382	
Astrocyte	NTRK2	1.930430451	2.57E-09	Receptor tyrosine kinase	BrainSpLMD|4915;BrainSpMouseDev|17979	OMIM|600456;HPO|4915|Autosomal dominant inheritance, Facial asymmetry, Obesity, Polyphagia, Severe global developmental delay, Stereotypy
Astrocyte	ACSL6	1.094044896	2.61E-09	Enzyme: Synthase	BrainSpLMD|23305;Eurexp|euxassay_018903|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, olfactory, spinal cord, stroma, trigeminal V, vestibulocochlear VIII	OMIM|604443;COSMIC||AML, AEL
Astrocyte	ILDR2	1.349581213	2.62E-09	Immunoglobulin	BrainSpLMD|387597	
Astrocyte	LGALS1	0.471196493	2.88E-09	Ligand	BrainSpLMD|3956;Eurexp|euxassay_004032|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|16623	OMIM|150570
Astrocyte	LRRN1	0.68333685	3.36E-09	Integral membrane protein	BrainSpLMD|57633;Eurexp|euxassay_000278|cochlea, dorsal root ganglion, head mesenchyme, limb, lip, mantle layer, marginal layer, mesenchyme, olfactory, tail, trigeminal V, ventricular layer, vertebral axis muscle system, vibrissa	
Astrocyte	ALDH6A1	1.674664364	3.55E-09	Enzyme: Dehydrogenase	BrainSpLMD|4329;Eurexp|euxassay_018815|choroid invagination, naris, nasal septum, otic capsule, turbinate bones, ventricular layer	OMIM|603178;HPO|4329|Abnormal facial shape, Autosomal recessive inheritance, Bulbous nose, Cataract, Delayed myelination, Depressed nasal bridge, Downslanted palpebral fissures, Dystonia, Epicanthus, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Long philtrum, Metabolic acidosis, Microcephaly, Microphthalmia, Muscular hypotonia, Phenotypic variability, Short nose, Tented upper lip vermilion
Astrocyte	NKAIN4	0.491444141	4.04E-09	Unclassified	BrainSpLMD|128414	OMIM|612873
Astrocyte	ITM2C	1.878346973	4.16E-09	Integral membrane protein	BrainSpLMD|81618	OMIM|609554
Astrocyte	PCDHGC3	1.451425765	4.19E-09	Unclassified		OMIM|603627
Astrocyte	TFPI	1.057515851	4.21E-09	Protease inhibitor	BrainSpLMD|7035;Eurexp|euxassay_012616|meninges	OMIM|152310
Astrocyte	SSPN	2.219334264	4.41E-09	Integral membrane protein	BrainSpLMD|8082	OMIM|601599
Astrocyte	GRM3	2.272559687	4.66E-09	G protein coupled receptor	BrainSpLMD|2913;BrainSpMouseDev|72231	OMIM|601115;COSMIC||melanoma, oral SCC
Astrocyte	ARHGEF26	1.817616915	6.04E-09		BrainSpLMD|26084;Eurexp|euxassay_016114|ventricular layer	OMIM|617552
Astrocyte	NPAS3	0.968731696	6.41E-09	Transcription factor	BrainSpLMD|64067;Eurexp|euxassay_009424|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|27131	OMIM|609430
Astrocyte	NBPF14	1.226096254	7.43E-09	Unclassified		OMIM|614003
Astrocyte	ABLIM1	1.402507411	7.51E-09	Cytoskeletal associated protein	BrainSpLMD|3983	OMIM|602330
Astrocyte	LINC00943	3.264071434	9.51E-09			
Astrocyte	BAI1	0.906451201	9.99E-09			
Astrocyte	TAPBP	1.159502042	1.03E-08	Chaperone	BrainSpLMD|6892;Eurexp|euxassay_009813|dorsal root ganglion, facial VII, glossopharyngeal IX, thymus primordium, trigeminal V, ventral grey horn	OMIM|601962;HPO|6892|Autosomal recessive inheritance, Bronchiectasis, Bronchiolitis, Chronic otitis media, Chronic sinusitis, Ectopia lentis, Emphysema, Nasal polyposis, Recurrent bronchitis, Skin ulcer
Astrocyte	SPRED1	1.337492325	1.05E-08	Unclassified	BrainSpLMD|161742	OMIM|609291;HPO|161742|Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Axillary freckling, Cafe-au-lait spot, Downslanted palpebral fissures, Epicanthus, Generalized hypotonia, High, narrow palate, Hypertelorism, Low posterior hairline, Low-set, posteriorly rotated ears, Macrocephaly, Micrognathia, Multiple lipomas, Neurofibromas, Ptosis, Short neck, Specific learning disability, Triangular face
Astrocyte	DDAH1	1.167233326	1.08E-08	Enzyme: Hydrolase	BrainSpLMD|23576;Eurexp|euxassay_003952|mantle layer, ventral grey horn, ventricular layer	OMIM|604743
Astrocyte	TMBIM6	1.022258216	1.20E-08	Integral membrane protein	BrainSpLMD|7009	OMIM|600748
Astrocyte	MSMO1	1.048982449	1.43E-08	Unclassified	BrainSpLMD|6307;Eurexp|euxassay_000744|Meckel's cartilage, adrenal gland, calyces, chondrocranium, dorsal root ganglion, facial VII, foregut-midgut junction, hindgut, incisor, inferior, lobe, mesenchyme, midgut, molar, olfactory, stomach, superior, testis, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|607545;HPO|6307|Arthralgia, Autosomal recessive inheritance, Blepharitis, Congenital cataract, Decreased circulating low-density lipoprotein levels, Delayed puberty, Delayed skeletal maturation, Failure to thrive, Global developmental delay, Hypocholesterolemia, Ichthyosis, Intellectual disability, mild, Microcephaly, Psoriasiform dermatitis, Short stature
Astrocyte	GPRC5B	1.214974768	1.61E-08	G protein coupled receptor	BrainSpLMD|51704;BrainSpMouseDev|40898	OMIM|605948
Astrocyte	SUCLG2	2.610808529	1.66E-08	Enzyme: Ligase	BrainSpLMD|8801;Eurexp|euxassay_018982|hindgut, incisor, liver, lung, mandible, mantle layer, maxilla, metanephros, midgut, molar, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, pituitary, stomach, submandibular gland primordium, thymus primordium, thyroid, urethra, ventricular layer, vertebral axis muscle system, vibrissa	SFARI||Autism, 6 - Evidence does not support role;OMIM|603922
Astrocyte	PPP1R3C	1.351671967	2.49E-08	Regulatory/other subunit	BrainSpLMD|5507;Eurexp|euxassay_000666|calyces, nasal capsule, pelvis	OMIM|602999
Astrocyte	BMPR1B	1.670043951	3.34E-08	Receptor serine/threonine kinase	BrainSpLMD|658;BrainSpMouseDev|11953	OMIM|603248;HPO|658|2-3 toe syndactyly, Abnormality of epiphysis morphology, Abnormality of the fingernails, Abnormality of the hip bone, Abnormality of the radius, Abnormality of the thumb, Abnormality of the ulna, Abnormality of tibia morphology, Aplasia of the middle phalanges of the toes, Aplasia of the proximal phalanges of the hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the 1st metacarpal, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Aplasia/Hypoplasia of the thumb, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bowing of the long bones, Brachydactyly, Bracket epiphysis of the middle phalanx of the 2nd finger, Bracket epiphysis of the middle phalanx of the 5th finger, Broad foot, Broad hallux, Carpal synostosis, Clinodactyly of the 5th finger, Complete duplication of distal phalanx of the thumb, Cone-shaped epiphysis, Delayed speech and language development, Disproportionate short-limb short stature, Fibular aplasia, Fibular hypoplasia, Hallux valgus, Hypergonadotropic hypogonadism, Hypoplasia of the ulna, Hypoplasia of the uterus, Joint stiffness, Limitation of joint mobility, Medially deviated second toe, Micromelia, Narrow nasal bridge, Poor motor coordination, Postaxial hand polydactyly, Primary amenorrhea, Pseudoepiphyses of the 2nd finger, Radial deviation of finger, Radial deviation of the 2nd finger, Sarcoma, Short 2nd finger, Short distal phalanx of the 2nd finger, Short distal phalanx of the thumb, Short femoral neck, Short finger, Short foot, Short hallux, Short metatarsal, Short middle phalanx of finger, Short middle phalanx of the 5th finger, Short phalanx of finger, Short proximal phalanx of finger, Short proximal phalanx of thumb, Short stature, Short thumb, Short tibia, Short toe, Skeletal dysplasia, Stippling of the epiphysis of the distal phalanx of the thumb, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Triangular shaped middle phalanx of the 2nd finger, Triangular shaped middle phalanx of the 5th finger, Type A2 brachydactyly, Type C brachydactyly, Ulnar deviation of finger, Ulnar deviation of the 2nd finger, Widened proximal tibial metaphyses
Astrocyte	CA2	1.486581337	3.67E-08	Enzyme: Carbonic anhydrase	BrainSpLMD|760;Eurexp|euxassay_018564|Meckel's cartilage, bladder, choroid plexus, cochlear duct, fundus region, incisor, lateral recess, lobe, lumen, lung, molar, rectum;BrainSpMouseDev|12134	OMIM|611492;HPO|760|Abnormality of dental morphology, Abnormality of epiphysis morphology, Abnormality of the renal tubule, Anemia, Aseptic necrosis, Autosomal recessive inheritance, Basal ganglia calcification, Bone pain, Carious teeth, Cerebral calcification, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, Distal renal tubular acidosis, Elevated serum acid phosphatase, Extramedullary hematopoiesis, Failure to thrive, Genu valgum, Global developmental delay, Hepatomegaly, Hepatosplenomegaly, Intellectual disability, Mandibular prognathia, Optic nerve compression, Osteopetrosis, Periodic hypokalemic paresis, Peripheral neuropathy, Recurrent fractures, Reduced bone mineral density, Short stature, Splenomegaly, Thrombocytopenia, Visual loss
Astrocyte	GPM6B	1.585035265	3.72E-08	Integral membrane protein	BrainSpLMD|2824;Eurexp|euxassay_011476|intermediate grey horn, mantle layer, marginal layer, ventral grey horn, ventricular layer	OMIM|300051
Astrocyte	ID1	1.386870835	3.83E-08	Transcription regulatory protein	BrainSpLMD|3397;BrainSpMouseDev|15674	OMIM|600349
Astrocyte	C2orf72	2.934044023	3.86E-08	Unclassified	Eurexp|euxassay_008051|left, right, ventricular layer	
Astrocyte	SCD5	1.582670289	3.99E-08	Enzyme: Oxidoreductase	BrainSpLMD|79966	OMIM|608370
Astrocyte	GOLIM4	0.761255316	4.16E-08	Integral membrane protein	BrainSpLMD|27333	OMIM|606805
Astrocyte	ENKUR	1.203414637	4.35E-08	Unclassified	BrainSpLMD|219670	OMIM|611025
Astrocyte	ACSBG1	1.80805386	4.55E-08	Enzyme: Synthase	BrainSpLMD|23205;Eurexp|euxassay_017864|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, pelvic girdle, rib, scapula, temporal bone, testis, tibia, turbinate, vault of skull	OMIM|614362
Astrocyte	SOX9	1.164111178	5.18E-08	Transcription factor	BrainSpLMD|6662;Eurexp|euxassay_002633|axial skeleton, basisphenoid bone, calyces, exoccipital bone, femur, lung, mesenchyme, naris, nasal septum, nucleus pulposus, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, pharyngo-tympanic tube, trachea, turbinate, ventricular layer, vibrissa;BrainSpMouseDev|20444	OMIM|608160;HPO|6662|11 pairs of ribs, Abnormal heart morphology, Abnormal scrotal rugation, Abnormal sex determination, Abnormality of male internal genitalia, Abnormality of the labia, Abnormality of the pharynx, Abnormality of the scrotum, Abnormality of the uterus, Absent sternal ossification, Ambiguous genitalia, Anterior tibial bowing, Apnea, Autosomal dominant inheritance, Azoospermia, Bifid scrotum, Blepharophimosis, Cleft palate, Clitoral hypertrophy, Cryptorchidism, Decreased fertility, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Depressed nasal bridge, Depressed nasal ridge, Disproportionate short-limb short stature, Dysgerminoma, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Failure to thrive, Female external genitalia in individual with 46,XY karyotype, Femoral bowing, Fibular hypoplasia, Flat face, Generalized hypotonia, Glossoptosis, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hearing impairment, High forehead, Hip dislocation, Hydrocephalus, Hydronephrosis, Hypergonadotropic hypogonadism, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the vagina, Hypoplastic cervical vertebrae, Hypoplastic iliac wing, Hypoplastic inferior ilia, Hypoplastic scapulae, Hypospadias, Kyphoscoliosis, Laryngomalacia, Low-set ears, Macrocephaly, Male hypogonadism, Male infertility, Male pseudohermaphroditism, Micrognathia, Micropenis, Narrow chest, Neonatal respiratory distress, Neonatal short-limb short stature, Osteoporosis, Polycystic ovaries, Polyhydramnios, Poorly ossified cervical vertebrae, Primary amenorrhea, Proptosis, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Scrotal hypoplasia, Sex reversal, Short neck, Short palpebral fissure, Short stature, Shortening of all phalanges of fingers, Shortening of all phalanges of the toes, Skin dimples, Small abnormally formed scapulae, Small face, Sparse axillary hair, Sparse pubic hair, Streak ovary, Talipes equinovarus, Testicular dysgenesis, Thin ribs, Thoracic hypoplasia, Tibial bowing, Tracheobronchomalacia, True hermaphroditism, Upper airway obstruction, Urogenital sinus anomaly, Vanishing testis, Wide anterior fontanel
Astrocyte	NLGN4X	1.562639306	5.62E-08	Adhesion molecule;Integral membrane protein	BrainSpLMD|57502	SFARI||Autism, 3 - Suggestive evidence;OMIM|300427;HPO|57502|Autism, Childhood onset, Delayed speech and language development, EEG abnormality, Heterogeneous, Impaired use of nonverbal behaviors, Increased serum serotonin, Inflexible adherence to routines or rituals, Intellectual disability, Lack of peer relationships, Lack of spontaneous play, Multifactorial inheritance, Restrictive behavior, Seizures, Sporadic, Stereotypy, X-linked inheritance
Astrocyte	ITGB8	0.993296155	6.13E-08	Cell surface receptor	BrainSpLMD|3696;Eurexp|euxassay_011385|axial skeleton, brachial plexus, nasal cavity, optic chiasma, optic nerve, phalanx, submandibular gland primordium, testis, valve, ventricular layer, vibrissa;BrainSpMouseDev|107845	OMIM|604160
Astrocyte	BRINP3	2.09334897	6.34E-08	Unclassified	BrainSpLMD|339479;Eurexp|euxassay_002098|mantle layer, olfactory, spinal cord, submandibular gland primordium	
Astrocyte	RASSF2	0.729470055	6.47E-08	Cell cycle control protein	BrainSpLMD|9770;Eurexp|euxassay_010507|meninges, valve, ventricular layer	OMIM|609492
Astrocyte	SOX8	1.916671118	7.08E-08	Transcription factor	BrainSpLMD|30812;Eurexp|euxassay_006002|axial skeleton, corpus striatum, diaphragm, glomeruli, head mesenchyme, hindgut, incisor, laryngeal, mantle layer, marginal layer, mesenchyme, metatarsus, midgut, molar, nasal capsule, oesophagus, otic capsule, rectum, stomach, trachea, turbinate bones, ventral grey horn, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|20443	OMIM|605923
Astrocyte	TRIM9	1.284916738	7.45E-08	Unclassified	BrainSpLMD|114088;Eurexp|euxassay_010509|mantle layer, molar, ventricular layer	OMIM|606555
Astrocyte	RPL41P2	1.061215942	7.54E-08			
Astrocyte	ADHFE1	1.333286057	8.21E-08	Enzyme: Dehydrogenase	BrainSpLMD|137872;Eurexp|euxassay_018617|basisphenoid bone, calyces, exoccipital bone, meninges, nucleus pulposus, orbito-sphenoid, otic capsule, pectoral girdle and thoracic body wall, rib, skeletal muscle, supraoccipital cartilage condensation, turbinate, turbinate bones, ventral grey horn, ventricular layer	OMIM|611083
Astrocyte	NOVA1	1.225641211	8.21E-08	RNA binding protein	BrainSpLMD|4857	OMIM|602157
Astrocyte	PTAR1	0.987238416	8.47E-08	Unclassified		
Astrocyte	S1PR1	1.904391157	8.50E-08	G protein coupled receptor	BrainSpLMD|1901;BrainSpMouseDev|13387	OMIM|601974
Astrocyte	ANXA5	1.160601499	8.57E-08	Calcium binding protein	BrainSpLMD|308;Eurexp|euxassay_002158|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, meninges, renal/urinary system, reproductive system, respiratory system, tail	OMIM|131230
Astrocyte	IL6ST	1.390060582	9.09E-08	Cytokine receptor	BrainSpLMD|3572;BrainSpMouseDev|15968	OMIM|600694;COSMIC||hepatocellular carcinoma
Astrocyte	MALAT1	0.475536263	9.30E-08		BrainSpLMD|378938	OMIM|607924;COSMIC||renal cell carcinoma (childhood epithelioid), lung
Astrocyte	MT.ND4L	0.902207656	1.00E-07			
Astrocyte	RP11.263K19.4	2.107324609	1.03E-07			
Astrocyte	MCC	2.020829071	1.05E-07	Unclassified;Cell cycle control protein	BrainSpLMD|4163;Eurexp|euxassay_016045|mantle layer, pineal primordium, stomach, submandibular gland primordium, ventricular layer	SFARI||Autism, No category;OMIM|159350
Astrocyte	P2RY1	2.30408663	1.26E-07	G protein coupled receptor	BrainSpLMD|5028	OMIM|601167
Astrocyte	DOCK1	1.69028141	1.30E-07	Guanine nucleotide exchange factor	BrainSpLMD|1793	SFARI||Autism, 4 - Minimal evidence;OMIM|601403
Astrocyte	NEAT1	0.806070515	1.39E-07			OMIM|612769
Astrocyte	SPRY2	1.57224173	1.42E-07	Unclassified	BrainSpLMD|10253	OMIM|602466
Astrocyte	PDE4B	1.831851523	1.60E-07	Enzyme: Phosphodiesterase	BrainSpLMD|5142;Eurexp|euxassay_018064|cochlea, mantle layer, utricle	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600127
Astrocyte	AASS	1.146026537	1.68E-07	Enzyme: Oxidoreductase;Enzyme: Synthase	BrainSpLMD|10157	OMIM|605113;HPO|10157|Abnormality of the genitourinary system, Anemia, Autosomal recessive inheritance, Cognitive impairment, Delayed speech and language development, EEG abnormality, Ectopia lentis, Histidinuria, Hyperactivity, Hyperlysinemia, Hyperlysinuria, Infantile onset, Intellectual disability, Intellectual disability, mild, Muscular hypotonia, Phenotypic variability, Seizures, Short attention span, Short stature, Spastic diplegia
Astrocyte	ARHGAP12	1.298861351	1.76E-07	GTPase activating protein	BrainSpLMD|94134;Eurexp|euxassay_008610|axial skeleton, basioccipital bone, basisphenoid bone, bladder, brain, dorsal root ganglion, facial VII, femur, glossopharyngeal IX, midgut, neural retina, olfactory, pelvic girdle, spinal cord, stomach, trigeminal V, vestibulocochlear VIII	OMIM|610577
Astrocyte	GNG12	1.970888886	1.99E-07	G protein	BrainSpLMD|55970;Eurexp|euxassay_002072|ventricular layer	OMIM|615405
Astrocyte	LRP1B	0.310130332	2.01E-07	Cell surface receptor	BrainSpLMD|53353;Eurexp|euxassay_013815|floor plate, floorplate, roof plate	OMIM|608766;COSMIC||CLL, ovarian cancer, oesophageal squamous cell carcinoma, urothelial cancer
Astrocyte	SNX3	1.513301197	2.03E-07	Transport/cargo protein	BrainSpLMD|8724;Eurexp|euxassay_015289|nucleus pulposus, thymus primordium, ventricular layer	OMIM|605930
Astrocyte	ARHGAP31	2.016454574	2.21E-07			OMIM|610911;HPO|57514|Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Alopecia, Aortic valve stenosis, Aplasia cutis congenita, Aplasia cutis congenita on trunk or limbs, Aplasia cutis congenita over posterior parietal area, Atrial septal defect, Autosomal dominant inheritance, Bicuspid aortic valve, Brachydactyly, Calvarial skull defect, Cataract, Cleft palate, Cleft upper lip, Cortical dysplasia, Cutis marmorata, Encephalocele, Esotropia, Failure to thrive, Finger syndactyly, Generalized hypotonia, Global developmental delay, Hydrocephalus, Hypoplasia of the corpus callosum, Hypoplastic left heart, Imperforate hymen, Intellectual disability, Microcephaly, Microphthalmia, Pachygyria, Periventricular leukomalacia, Phenotypic variability, Polymicrogyria, Pulmonary arterial hypertension, Pulmonary artery atresia, Pulmonary artery stenosis, Pulmonic stenosis, Seizures, Short distal phalanx of finger, Small nail, Sparse hair, Split hand, Strabismus, Supernumerary nipple, Talipes, Talipes equinovarus, Tetralogy of Fallot, Toe syndactyly, Ventricular septal defect, Ventriculomegaly
Astrocyte	LYN	1.729044987	2.43E-07	Tyrosine kinase	BrainSpLMD|4067	OMIM|165120
Astrocyte	SYT11	0.341281455	2.50E-07	Calcium binding protein	BrainSpLMD|23208	OMIM|608741
Astrocyte	SCD	1.47214231	2.70E-07	Enzyme: Oxidoreductase	BrainSpLMD|6319;Eurexp|euxassay_012236|adrenal gland, axial skeleton, basal columns, cervico-thoracic, clavicle, dorsal root ganglion, ductus deferens, embryo, facial VII, glossopharyngeal IX, hindgut, incisor, larynx, lens, lobe, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, neural retina, nucleus pulposus, orbito-sphenoid, otic capsule, pancreas, petrous part, pharyngo-tympanic tube, pituitary, rectum, rib, skeletal muscle, stomach, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, turbinate, urethra, vagus X, vault of skull, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|604031
Astrocyte	PMP22	1.826511489	2.76E-07	Integral membrane protein	BrainSpLMD|5376	OMIM|601097;HPO|5376|Abnormality of the immune system, Acute demyelinating polyneuropathy, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Childhood onset, Cold-induced muscle cramps, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Gait ataxia, Gait disturbance, Generalized hypotonia, Hammertoe, Hearing impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Increased CSF protein, Infantile onset, Insidious onset, Juvenile onset, Kyphoscoliosis, Motor delay, Muscle weakness, Myelin outfoldings, Onion bulb formation, Paresthesia, Pes cavus, Scoliosis, Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Sensory ataxia, Slow progression, Split hand, Steppage gait, Talipes calcaneovalgus, Ulnar claw, Upper limb postural tremor, Variable expressivity, Vocal cord paralysis
Astrocyte	FGFR3	1.786898778	2.79E-07	Receptor tyrosine kinase;Tyrosine kinase	BrainSpLMD|2261;Eurexp|euxassay_006120|embryo;BrainSpMouseDev|13961	OMIM|134934;COSMIC||bladder, MM, T-cell lymphoma, Hypochondroplasia, Thanatophoric dysplasia;HPO|2261|2-3 finger syndactyly, Abnormal form of the vertebral bodies, Abnormality of femur morphology, Abnormality of lower limb joint, Abnormality of metabolism/homeostasis, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the cervical spine, Abnormality of the clavicle, Abnormality of the elbow, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the ribs, Absence of Stensen duct, Absent lacrimal punctum, Absent proximal phalanx of thumb, Absent radius, Acanthosis nigricans, Alacrima, Anteverted nares, Aplasia of the parotid gland, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the mandible, Aplasia/hypoplasia of the extremities, Arachnodactyly, Arnold-Chiari malformation, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bilateral triphalangeal thumbs, Blepharospasm, Bowing of the long bones, Brachycephaly, Brachydactyly, Brain atrophy, Brain stem compression, Broad femoral metaphyses, Broad forehead, Broad hallux, Camptodactyly of finger, Camptodactyly of toe, Capitate-hamate fusion, Carious teeth, Carpal synostosis, Central apnea, Childhood onset short-limb short stature, Choanal atresia, Chronic otitis media, Clinodactyly, Clinodactyly of the 5th finger, Cloverleaf skull, Cognitive impairment, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Conical incisor, Convex nasal ridge, Corneal perforation, Coronal craniosynostosis, Coronal hypospadias, Craniosynostosis, Cryptorchidism, Cupped ear, Dacryocystitis, Decreased fetal movement, Delayed cranial suture closure, Delayed eruption of primary teeth, Dental crowding, Dental malocclusion, Depressed nasal bridge, Diaphyseal thickening, Downslanted palpebral fissures, Enlarged cerebellum, Excessive wrinkled skin, External ear malformation, Facial asymmetry, Femoral bowing, Fibular bowing, Finger syndactyly, Flared metaphysis, Flat face, Frontal bossing, Generalized joint laxity, Generalized seizures, Genu varum, Global developmental delay, Gonadal dysgenesis, Hearing impairment, Hereditary nonpolyposis colorectal carcinoma, Heterotopia, High forehead, High palate, High, narrow palate, Hydrocephalus, Hyperextensible skin, Hyperhidrosis, Hyperlordosis, Hypertelorism, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the corpus callosum, Hypoplasia of the lacrimal puncta, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic ilia, Hypoplastic lacrimal duct, Increased intracranial pressure, Increased nuchal translucency, Increased vertebral height, Infantile muscular hypotonia, Inflammatory abnormality of the eye, Intellectual disability, Intellectual disability, profound, Intellectual disability, severe, Intrauterine growth retardation, Joint contracture of the hand, Joint hyperflexibility, Kyphosis, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Lethal short-limbed short stature, Limited elbow extension, Limited hip extension, Long thorax, Low anterior hairline, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Macrocephaly, Malar flattening, Megalencephaly, Melanocytic nevus, Mesomelia, Metaphyseal chondrodysplasia, Metaphyseal irregularity, Microcephaly, Micromelia, Microtia, Midface retrusion, Mixed hearing impairment, Motor delay, Muscular hypotonia, Narrow chest, Narrow internal auditory canal, Narrow palate, Narrow sacroiliac notch, Nasolacrimal duct obstruction, Neonatal death, Neonatal short-limb short stature, Neoplasm, Neoplasm of the stomach, Nephrosclerosis, Numerous nevi, Obesity, Obstructive sleep apnea, Open bite, Osteochondroma, Otitis media, Partial duplication of thumb phalanx, Pectus excavatum, Periorbital fullness, Plagiocephaly, Platyspondyly, Polyhydramnios, Preaxial polydactyly, Prominent crus of helix, Prominent nasal bridge, Proptosis, Ptosis, Radial deviation of finger, Radial deviation of the 3rd finger, Recurrent corneal erosions, Recurrent otitis media, Redundant skin, Renal agenesis, Renal cell carcinoma, Respiratory insufficiency, Rhizomelia, Scoliosis, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe platyspondyly, Severe short stature, Short femoral neck, Short femur, Short foot, Short long bone, Short middle phalanx of finger, Short middle phalanx of toe, Short palm, Short ribs, Short sacroiliac notch, Short stature, Short thorax, Short toe, Skeletal dysplasia, Sleep apnea, Small abnormally formed scapulae, Small face, Small foramen magnum, Small thenar eminence, Somatic mutation, Spinal stenosis with reduced interpedicular distance, Split hand, Sporadic, Strabismus, Tall stature, Tarsal synostosis, Telecanthus, Teratoma, Thimble-shaped middle phalanges of hand, Tibial bowing, Transitional cell carcinoma of the bladder, Trident hand, Turricephaly, Underdeveloped supraorbital ridges, Upper airway obstruction, Uterine leiomyosarcoma, Ventriculomegaly, Visual field defect, Wide anterior fontanel, Wide-cupped costochondral junctions, Wormian bones, Xerostomia
Astrocyte	MT.ATP8	0.710733057	2.88E-07			
Astrocyte	ZMAT3	1.68291595	3.07E-07	DNA binding protein	BrainSpLMD|64393	OMIM|606452
Astrocyte	DCLK2	1.006955764	3.33E-07	Serine/threonine kinase	BrainSpLMD|166614;Eurexp|euxassay_009796|associated mesenchyme, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nasal cavity, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613166
Astrocyte	MASP1	1.982645184	3.34E-07	Serine protease	BrainSpLMD|5648	OMIM|600521;HPO|5648|Abnormality of eye movement, Abnormality of the anterior chamber, Atrial septal defect, Autosomal recessive inheritance, Bilateral cryptorchidism, Blepharophimosis, Broad foot, Caudal appendage, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Conductive hearing impairment, Conjunctival telangiectasia, Coronal craniosynostosis, Craniosynostosis, Dental crowding, Diastasis recti, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus inversus, Glaucoma, Growth delay, Hearing impairment, Highly arched eyebrow, Hydronephrosis, Hyperlordosis, Hypertelorism, Intellectual disability, Intellectual disability, mild, Lambdoidal craniosynostosis, Large fleshy ears, Limited pronation/supination of forearm, Microcephaly, Omphalocele, Oral cleft, Patent ductus arteriosus, Postnatal growth retardation, Ptosis, Radioulnar synostosis, Sacral dimple, Scoliosis, Short 5th finger, Short foot, Single interphalangeal crease of fifth finger, Skull asymmetry, Spina bifida occulta, Supernumerary nipple, Telecanthus, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide anterior fontanel
Astrocyte	DST	0.773649907	3.39E-07	Cytoskeletal associated protein	BrainSpLMD|667;Eurexp|euxassay_016245|incisor, molar, oesophagus, olfactory, oral epithelium, stomach, urethra, vibrissa;BrainSpMouseDev|13297	SFARI||Autism, 4 - Minimal evidence;OMIM|113810;HPO|667|Alacrima, Apnea, Areflexia, Atrophic scars, Autosomal recessive inheritance, Blotching pigmentation of the skin, Bradycardia, Corneal scarring, Feeding difficulties, Fever, Flexion contracture, Growth delay, Hand clenching, Hyperhidrosis, Limited hip extension, Neonatal hypotonia, Open mouth, Respiratory insufficiency, Sensory neuropathy, Tachycardia, Talipes equinovarus
Astrocyte	ROBO3	1.948976817	3.66E-07	Unclassified	BrainSpLMD|64221;Eurexp|euxassay_013562|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|19412	OMIM|608630;HPO|64221|Autosomal recessive inheritance, Cognitive impairment, Congenital onset, Horizontal supranuclear gaze palsy, Kyphosis, Nystagmus, Progressive ophthalmoplegia, Scoliosis, Short neck, Thoracolumbar scoliosis
Astrocyte	MT1X	0.969487956	3.93E-07	Transport/cargo protein	BrainSpLMD|4501	OMIM|156359
Astrocyte	ZIC2	1.178288042	3.98E-07	Transcription regulatory protein	BrainSpLMD|7546;BrainSpMouseDev|22529	OMIM|603073;HPO|7546|Abnormal facial shape, Autosomal dominant inheritance, Global developmental delay, Holoprosencephaly, Hydrocephalus, Intellectual disability, Microcephaly, Synophrys, Trigonocephaly
Astrocyte	CHPT1	1.601209641	4.73E-07	Enzyme: Phosphotransferase	BrainSpLMD|56994;Eurexp|euxassay_012600|midgut	OMIM|616747
Astrocyte	CD63	1.258723013	4.76E-07	Integral membrane protein	BrainSpLMD|967	OMIM|155740
Astrocyte	BDH2	2.46637187	5.27E-07	Enzyme: Oxidoreductase	BrainSpLMD|56898	
Astrocyte	HSDL2	1.575491014	5.46E-07	Unclassified	BrainSpLMD|84263	
Astrocyte	ZIC1	2.10036549	5.62E-07	Transcription factor	BrainSpLMD|7545;Eurexp|euxassay_010449|dorsal grey horn, mantle layer, marginal layer, meninges, neural retina, ventricular layer;BrainSpMouseDev|22528	OMIM|600470;HPO|7545|Agenesis of corpus callosum, Arnold-Chiari malformation, Autosomal dominant inheritance, Brachycephaly, Broad forehead, Cerebellar atrophy, Coronal craniosynostosis, Craniosynostosis, Facial asymmetry, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hypertelorism, Increased intracranial pressure, Intellectual disability, moderate, Intellectual disability, severe, Oxycephaly, Papilledema, Plagiocephaly, Proptosis, Sagittal craniosynostosis, Strabismus, Underdeveloped supraorbital ridges, Visual field defect
Astrocyte	NOTCH2	1.335637218	5.89E-07	Cell surface receptor	BrainSpLMD|4853;Eurexp|euxassay_015406|alimentary system, cardiovascular system, cavities and their linings, choroid plexus, gland, integumental system, limb, marginal layer, meninges, mesenchyme, olfactory, renal/urinary system, reproductive system, respiratory system, skeleton, tail, ventricular layer, vertebral axis muscle system, vomeronasal organ;BrainSpMouseDev|17896	OMIM|600275;COSMIC||marginal zone lymphoma, DLBCL, bladder, Hajdu-Cheney syndrome, serpentine fibula-polycystic kidney syndrome;HPO|4853|Abnormality of the cardiac septa, Abnormality of the fingernails, Absent frontal sinuses, Anteverted nares, Arnold-Chiari malformation, Arthralgia, Atrial septal defect, Autosomal dominant inheritance, Basilar impression, Biconcave vertebral bodies, Bone pain, Brachydactyly, Broad forehead, Cervical instability, Cholestasis, Cholestatic liver disease, Coarse facial features, Conductive hearing impairment, Crowded carpal bones, Cryptorchidism, Decreased skull ossification, Dental malocclusion, Dislocated radial head, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Elongated sella turcica, Epicanthus, Failure to thrive, Foot acroosteolysis, Full cheeks, Generalized hirsutism, Genu valgum, Hearing impairment, Hematuria, High palate, Hirsutism, Hydrocephalus, Hypertelorism, Hypertension, Hypoplastic 5th lumbar vertebrae, Hypospadias, Inguinal hernia, Joint hyperflexibility, Joint laxity, Kyphoscoliosis, Large earlobe, Long eyelashes, Long nose, Long philtrum, Low-set ears, Macrocephaly, Micrognathia, Narrow mouth, Open bite, Osteolysis, Osteolytic defects of the phalanges of the hand, Osteopenia, Osteoporosis, Partial absence of toe, Patent ductus arteriosus, Pathologic fracture, Periodontitis, Peripheral pulmonary artery stenosis, Phenotypic variability, Platybasia, Pointed chin, Posterior embryotoxon, Premature loss of teeth, Prominent occiput, Proteinuria, Pulmonic stenosis, Recurrent fractures, Renal cyst, Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Scoliosis, Short distal phalanx of finger, Short nail, Short neck, Short stature, Short toe, Skeletal dysplasia, Synophrys, Tall lumbar vertebral bodies, Telecanthus, Tetralogy of Fallot, Thick eyebrow, Thin vermilion border, Triangular face, Umbilical hernia, Vertebral compression fractures, Wide nose, Wormian bones
Astrocyte	RHOC	0.269954303	6.47E-07	GTPase	BrainSpLMD|389	OMIM|165380
Astrocyte	TNK2	1.660304968	6.64E-07	Tyrosine kinase	BrainSpLMD|10188;Eurexp|euxassay_015328|brain, dorsal root ganglion, spinal cord, submandibular gland primordium, vibrissa	OMIM|606994
Astrocyte	EEPD1	2.078962009	6.90E-07	DNA binding protein	BrainSpLMD|80820;Eurexp|euxassay_002552|dorsal root ganglion, facial VII, orbito-sphenoid, trigeminal V	OMIM|617192
Astrocyte	HLA.A	0.846562878	7.08E-07			
Astrocyte	C8orf46	2.725881346	7.26E-07	Unclassified	BrainSpLMD|254778	
Astrocyte	DDR1	1.099782802	7.32E-07	Receptor tyrosine kinase	BrainSpLMD|780;BrainSpMouseDev|12090	OMIM|600408
Astrocyte	MTND4P24	0.376125407	7.79E-07			
Astrocyte	RHOJ	1.993934686	8.45E-07	GTPase	BrainSpLMD|57381;Eurexp|euxassay_002084|alimentary system, cavities and their linings, gland, integumental system, limb, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, tail, vertebral axis muscle system	OMIM|607653
Astrocyte	FAM3C	1.681842032	8.92E-07	Cytokine	BrainSpMouseDev|27743	OMIM|608618
Astrocyte	ALCAM	1.542086208	9.88E-07	Adhesion molecule	BrainSpLMD|214;Eurexp|euxassay_003463|bladder, dorsal root ganglion, epithelium, extrinsic ocular muscle, lung, mantle layer, mesenchyme, nucleus pulposus, saccule, stomach, submandibular gland primordium, trachea, urethra, ventricular layer, vibrissa;BrainSpMouseDev|11445	OMIM|601662
Astrocyte	KAT2A	1.421306098	1.04E-06	Transcription regulatory protein	BrainSpLMD|2648;Eurexp|euxassay_012273|cortex, incisor, lung, mantle layer, molar, orbito-sphenoid, sublingual gland primordium, tegmentum, thymus primordium, ventral grey horn, ventricular layer	OMIM|602301
Astrocyte	ABAT	0.975548221	1.04E-06	Enzyme: Aminotransferase	BrainSpLMD|18;Eurexp|euxassay_001907|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, thymus primordium, trigeminal V, ventricular layer;BrainSpMouseDev|92603	SFARI||Autism, 4 - Minimal evidence;OMIM|137150;HPO|18|Agenesis of corpus callosum, Autosomal recessive inheritance, Cerebellar hypoplasia, Death in childhood, Downslanted palpebral fissures, Global developmental delay, High-pitched cry, Hyperreflexia, Lethargy, Leukodystrophy, Posterior fossa cyst, Retrognathia, Seizures, Severe muscular hypotonia, Tall stature
Astrocyte	ACSS1	0.761485035	1.07E-06	Unclassified	BrainSpLMD|84532;Eurexp|euxassay_018560|embryo	OMIM|614355
Astrocyte	NCKAP5	0.848694856	1.08E-06	Unclassified	BrainSpLMD|344148;Eurexp|euxassay_016857|brain, cochlea, epithelium, left lung, otic capsule, retina, right lung, spinal cord	SFARI||Autism, 4 - Minimal evidence;OMIM|608789
Astrocyte	APCDD1	2.209686042	1.41E-06	Unclassified	BrainSpLMD|147495	OMIM|607479;HPO|147495|Alopecia, Autosomal dominant inheritance, Autosomal recessive inheritance, Hypotrichosis, Hypotrichosis of the scalp, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes
Astrocyte	WDR41	1.739048285	1.43E-06	Unclassified	BrainSpLMD|55255	OMIM|617502
Astrocyte	TIMP1	1.134153233	1.56E-06	Extracellular matrix protein	BrainSpLMD|7076;Eurexp|euxassay_000782|Meckel's cartilage, axial skeleton, chondrocranium, molar	OMIM|305370
Astrocyte	MT.ND3	1.031218069	1.72E-06			
Astrocyte	PIK3R1	1.552423987	1.98E-06	Adapter molecule	BrainSpLMD|5295;Eurexp|euxassay_003253|incisor, lobe, ventricular layer, vibrissa;BrainSpMouseDev|18473	OMIM|171833;COSMIC||glioblastoma, ovarian, colorectal;HPO|5295|Abnormality of dental enamel, Abnormality of the immune system, Abnormality of the pupil, Agammaglobulinemia, Alopecia, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Birth length less than 3rd percentile, Cataract, Chronic otitis media, Clinodactyly, Conjunctivitis, Cough, Decreased antibody level in blood, Deeply set eye, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Dental malocclusion, Diabetes mellitus, Diarrhea, Dimple chin, Downturned corners of mouth, Enlarged epiphyses, Excessive wrinkled skin, Failure to thrive, Fatigue, Fever, Frontal bossing, Glaucoma, Glucose intolerance, Hyperglycemia, Hypodontia, Hypoplasia of the iris, Hypotrichosis, Immunodeficiency, Infantile onset, Inguinal hernia, Insulin resistance, Insulin-resistant diabetes mellitus, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Lipoatrophy, Lipodystrophy, Macrotia, Megalocornea, Microdontia, Micrognathia, Midface retrusion, Myopia, Neurological speech impairment, Neutropenia, Osteomyelitis, Poor appetite, Premature skin wrinkling, Prominent forehead, Radial deviation of finger, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent skin infections, Rieger anomaly, Sensorineural hearing impairment, Severe short stature, Sinusitis, Skin rash, Small for gestational age, Telecanthus, Thin skin, Triangular face, Underdeveloped nasal alae, Weight loss, Wide nasal bridge
Astrocyte	SLC25A53	1.568161238	2.02E-06	Membrane transport protein		OMIM|300941
Astrocyte	JAM2	1.233704454	2.08E-06	Adhesion molecule	BrainSpLMD|58494	OMIM|606870
Astrocyte	LAPTM4B	0.515489578	2.10E-06	Unclassified	BrainSpLMD|55353;Eurexp|euxassay_001940|basal plate, choroid plexus, dorsal root ganglion, incisor, lateral recess, mantle layer, submandibular gland primordium, trigeminal V, ventral grey horn, vestibulocochlear VIII;BrainSpMouseDev|76980	OMIM|613296
Astrocyte	CDCA7L	0.477149158	2.16E-06	Transcription factor	BrainSpLMD|55536;Eurexp|euxassay_003467|adenohypophysis, epidermis, fundus region, glomeruli, hindgut, left lung, lobe, lumen, lung, marginal layer, midgut, neural retina, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, respiratory, right lung, stomach, submandibular gland primordium, testis, thymus primordium, trachea, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|85297	OMIM|609685
Astrocyte	TRPS1	0.622993104	2.22E-06	Transcription factor	BrainSpLMD|7227;Eurexp|euxassay_011487|axial skeleton, basioccipital bone, basisphenoid bone, bladder, clavicle, cornea, cricoid, diaphragm, dorsal grey horn, exoccipital bone, femur, humerus, knee, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, rib, skeletal muscle, sternum, stomach, submandibular gland primordium, thyroid, tongue, trachea, ureter, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|58142	OMIM|604386;HPO|7227|Abnormality of the nervous system, Abnormally low-pitched voice, Accelerated bone age after puberty, Aplasia/Hypoplasia of the mandible, Arthralgia, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Bone pain, Bulbous nose, Camptodactyly of finger, Carious teeth, Chin with horizontal crease, Clinodactyly of the 5th finger, Concave nail, Cone-shaped epiphyses of the middle phalanges of the hand, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphyses of the proximal phalanges of the hand, Cone-shaped epiphysis, Coxa magna, Deep philtrum, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Fine hair, Flat capital femoral epiphysis, Fragile nails, Frontal bossing, Generalized hypotonia, High palate, Hyperlordosis, Increased number of teeth, Infantile muscular hypotonia, Intellectual disability, Ivory epiphyses of the distal phalanges of the hand, Joint dislocation, Joint hyperflexibility, Leukonychia, Long philtrum, Long upper lip, Low-set, posteriorly rotated ears, Macrotia, Microdontia, Micrognathia, Multiple long-bone exostoses, Muscular hypotonia, Narrow palate, Osteoarthritis, Osteopenia, Pear-shaped nose, Pectus carinatum, Pes planus, Protruding ear, Recurrent respiratory infections, Redundant skin, Scapular winging, Scoliosis, Short distal phalanx of finger, Short finger, Short foot, Short metacarpal, Short metatarsal, Short palm, Short phalanx of finger, Short stature, Shortening of all phalanges of fingers, Slow-growing hair, Smooth philtrum, Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Sparse lateral eyebrow, Sparse scalp hair, Swelling of proximal interphalangeal joints, Thick eyebrow, Thin eyebrow, Thin nail, Thin upper lip vermilion, Triangular face, Underdeveloped nasal alae
Astrocyte	PPP2R5A	1.862040057	2.54E-06	Serine/threonine phosphatase	BrainSpLMD|5525	OMIM|601643
Astrocyte	LYPD1	1.595048875	2.83E-06	Unclassified	BrainSpLMD|116372;Eurexp|euxassay_015059|alar columns, alar plate, arm, basal columns, basal plate, brain, carpus, caudate nucleus, caudate-putamen, cerebellum, cerebral cortex, cochlear component, corpus striatum, dermal component, diencephalon, dorsal root ganglion, epithelium, external, facial VII, footplate, forebrain, forelimb, ganglion, glossopharyngeal IX, handplate, head, hindbrain, hindlimb, hypoglossal XII, hypothalamus, incisor, inferior, interthalamic adhesion, intraventricular portion, lamina terminalis, lateral wall, lentiform nucleus, limb, mandibular division, mantle layer, marginal layer, maxillary division, meatus, medulla oblongata, mesenchyme, metencephalon, midbrain, naris, nasal capsule, nasal cavity, nasal septum, neurohypophysis, olfactory I, olfactory cortex, olfactory lobe, ophthalmic division, optic II, otic capsule, pigmented retinal epithelium, pineal primordium, pituitary, pons, posterior, primary choana, rest of alar plate, rest of cerebellum, rest of skin, retina, spinal cord, sulcus limitans, superior, tail, tarsus, tegmentum, telencephalon, thalamus, thymus primordium, thyroid, trigeminal V, trochlear IV, turbinate bones, vagus X, vestibular component, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|48426	OMIM|610450
Astrocyte	RASSF4	1.962955583	2.87E-06	Unclassified	BrainSpLMD|83937;Eurexp|euxassay_006256|dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, respiratory, trigeminal V, ventral grey horn, ventricular layer	OMIM|610559
Astrocyte	APOL2	1.735453307	2.94E-06	Integral membrane protein;Transport/cargo protein	BrainSpLMD|23780;Eurexp|euxassay_010310|liver	OMIM|607252
Astrocyte	LITAF	1.436619677	2.94E-06	Transcription factor	BrainSpLMD|9516;Eurexp|euxassay_013657|axial skeleton, incisor, molar, submandibular gland primordium, urethra, ventricular layer, vestibular component, vibrissa	OMIM|603795;HPO|9516|Autosomal dominant inheritance, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Juvenile onset, Onion bulb formation, Pes cavus, Segmental peripheral demyelination/remyelination
Astrocyte	IL33	0.366524316	2.98E-06	Unclassified	Eurexp|euxassay_011591|capsule, cortex, endolymphatic duct, lip, mesentery, midgut, olfactory, skeletal muscle, utricle	OMIM|608678
Astrocyte	CCDC144CP	1.254338732	3.29E-06			
Astrocyte	PLEKHG1	2.346222843	3.45E-06	Unclassified	BrainSpMouseDev|84601	
Astrocyte	TMEM132B	0.448406781	3.46E-06	Integral membrane protein		
Astrocyte	TGFB2	2.886472843	3.50E-06	Growth factor	BrainSpLMD|7042;BrainSpMouseDev|21567	OMIM|190220;HPO|7042|Abnormality of the iris, Abnormality of the sternum, Aortic dissection, Aortic regurgitation, Arachnodactyly, Arterial tortuosity, Ascending aortic dissection, Autosomal dominant inheritance, Bruising susceptibility, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Dural ectasia, Exertional dyspnea, High palate, Hypertension, Inguinal hernia, Joint hyperflexibility, Left ventricular failure, Mitral valve prolapse, Paroxysmal dyspnea, Pes planus, Retrognathia, Scoliosis, Tall stature
Astrocyte	AIF1L	1.318278048	3.51E-06	Calcium binding protein	BrainSpLMD|83543;Eurexp|euxassay_002250|basisphenoid bone, orbito-sphenoid, turbinate, ventricular layer	
Astrocyte	CANX	1.076742061	3.59E-06	Chaperone	BrainSpLMD|821	OMIM|114217
Astrocyte	TSPAN3	1.17131777	3.71E-06	Integral membrane protein	BrainSpLMD|10099;Eurexp|euxassay_011791|axial skeleton, basioccipital bone, basisphenoid bone, naris, nasal septum, orbito-sphenoid, otic capsule, petrous part, rib, turbinate bones	OMIM|613134
Astrocyte	MTSS1L	0.929740802	4.00E-06	Unclassified	BrainSpLMD|92154;Eurexp|euxassay_009417|dorsal root ganglion, facial VII, floorplate, glossopharyngeal IX, intervertebral disc, lateral wall, lung, meninges, metatarsus, midgut, otic capsule, skeletal muscle, stomach, trigeminal V, turbinate bones, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|616951
Astrocyte	FAM212B	0.9723681	4.00E-06	Unclassified	BrainSpLMD|55924;Eurexp|euxassay_002765|mantle layer, marginal layer, ventral grey horn, ventricular layer	
Astrocyte	PHGDH	1.56199313	4.19E-06	Enzyme: Dehydrogenase	BrainSpLMD|26227	OMIM|606879;HPO|26227|Ablepharon, Abnormality of the philtrum, Absent eyelashes, Absent septum pellucidum, Adducted thumb, Agenesis of corpus callosum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Bifid uterus, Broad foot, Calcaneovalgus deformity, Camptodactyly, Cataract, Cerebellar hypoplasia, Cerebral dysmyelination, Choroid plexus cyst, Cleft palate, Cleft upper lip, Clinodactyly, Congenital cataract, Congenital microcephaly, Cryptorchidism, Dandy-Walker malformation, Decreased fetal movement, Decreased testicular size, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Finger syndactyly, Generalized edema, Growth delay, Hydranencephaly, Hypertelorism, Hypogonadism, Hypsarrhythmia, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Lack of skin elasticity, Large hands, Lissencephaly, Macrogyria, Macrotia, Megaloblastic anemia, Microcephaly, Micrognathia, Micromelia, Microphthalmia, Muscle cramps, Muscular dystrophy, Nystagmus, Opisthotonus, Pachygyria, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Polymicrogyria, Proptosis, Pterygium, Pulmonary hypoplasia, Radial deviation of finger, Renal agenesis, Rocker bottom foot, Seizures, Short neck, Short umbilical cord, Skeletal muscle atrophy, Sloping forehead, Small placenta, Spastic tetraplegia, Spina bifida, Stillbirth, Thick lower lip vermilion, Thick vermilion border, Thrombocytopenia, Toe syndactyly, Transposition of the great arteries, Trismus, Ventricular septal defect, Yellow subcutaneous tissue covered by thin, scaly skin
Astrocyte	B3GAT2	1.196867626	4.26E-06	Enzyme: Transferase;Integral membrane protein	BrainSpLMD|135152;BrainSpMouseDev|93607	OMIM|607497
Astrocyte	HLA.E	1.314138323	4.68E-06			
Astrocyte	RP11.270C12.3	0.31316131	4.79E-06			
Astrocyte	PHACTR2	1.558629182	5.16E-06	Enzyme regulator	BrainSpLMD|9749;Eurexp|euxassay_007706|alimentary system, cardiovascular system, cavities and their linings, choroid invagination, choroid plexus, gland, integumental system, limb, mesenchyme, renal/urinary system, reproductive system, respiratory system, roof plate, sensory organ, tail, ventricular layer, vertebral axis muscle system	OMIM|608724
Astrocyte	GLDC	1.478744901	5.36E-06	Enzyme: Decarboxylase	BrainSpLMD|2731	OMIM|238300;HPO|2731|Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Death in infancy, Encephalopathy, Generalized hypotonia, Hyperactivity, Hyperglycinemia, Hyperglycinuria, Hyperreflexia, Impulsivity, Intellectual disability, Irritability, Lethargy, Myoclonus, Recurrent singultus, Restlessness, Seizures
Astrocyte	SNTA1	1.801329061	5.49E-06	Adapter molecule	BrainSpLMD|6640	OMIM|601017;HPO|6640|Autosomal dominant inheritance, Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation
Astrocyte	LINC01138	1.218922196	5.73E-06		BrainSpLMD|388685	
Astrocyte	RGS20	3.057535722	5.79E-06	GTPase activating protein	BrainSpLMD|8601;Eurexp|euxassay_009661|ventricular layer	OMIM|607193
Astrocyte	FABP5	0.506167051	7.11E-06	Transport/cargo protein	Eurexp|euxassay_002194|axial skeleton, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lobe, molar, naris, thoracic, thymus primordium, trigeminal V, vagus X, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|605168
Astrocyte	HLA.B	0.485059782	7.76E-06			
Astrocyte	PLEKHH2	1.412881683	8.09E-06	Cytoskeletal protein	BrainSpLMD|130271	OMIM|612723
Astrocyte	NBPF25P	0.842227757	8.22E-06			
Astrocyte	CHP1	0.53624864	8.85E-06		BrainSpLMD|11261	OMIM|606988
Astrocyte	SC5D	1.067233909	8.94E-06	Enzyme: Oxidase	BrainSpLMD|6309;Eurexp|euxassay_003227|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X	OMIM|602286;HPO|6309|Abnormal platelet morphology, Abnormality of the thoracic spine, Anisopoikilocytosis, Anteverted nares, Arnold-Chiari malformation, Autosomal recessive inheritance, Biparietal narrowing, Bulbous nose, Cataract, Cerebellar cortical atrophy, Cerebral calcification, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus, Failure to thrive, Full cheeks, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hearing impairment, Hepatic failure, Hepatomegaly, High palate, Horseshoe kidney, Hypoplasia of penis, Increased mean platelet volume, Intrahepatic cholestasis, Intrauterine growth retardation, Long philtrum, Lumbosacral meningocele, Meningocele, Microcephaly, Microcornea, Micrognathia, Muscular hypotonia, Myoclonus, Narrow forehead, Opacification of the corneal stroma, Postaxial foot polydactyly, Postaxial hand polydactyly, Prominent metopic ridge, Ptosis, Seizures, Short nose, Sloping forehead, Specific learning disability, Talipes, Thrombocytopenia, Toe syndactyly
Astrocyte	HRSP12	1.541210325	9.16E-06			
Astrocyte	SWAP70	1.41431056	9.42E-06	Guanine nucleotide exchange factor	BrainSpLMD|23075	OMIM|604762
Astrocyte	CTD.2031P19.4	1.012586014	9.47E-06			
Astrocyte	RP11.734J24.1	0.338129475	9.57E-06			
Astrocyte	NACC2	1.553658408	9.68E-06	Unclassified	BrainSpLMD|138151;Eurexp|euxassay_003015|basal plate, calyces, incisor, limb, marginal layer, molar, submandibular gland primordium, tail	OMIM|615786
Astrocyte	IVD	1.304428712	9.82E-06	Enzyme: Dehydrogenase	BrainSpLMD|3712	OMIM|607036;HPO|3712|Autosomal recessive inheritance, Bone marrow hypocellularity, Coma, Dehydration, Global developmental delay, Hyperglycinuria, Ketoacidosis, Lethargy, Leukopenia, Metabolic acidosis, Pancytopenia, Seizures, Thrombocytopenia, Vomiting
Astrocyte	LRRC17	1.613022215	1.22E-05	Unclassified	BrainSpLMD|10234	
Astrocyte	AXL	0.992542231	1.23E-05	Receptor tyrosine kinase	BrainSpLMD|558;Eurexp|euxassay_001756|cardiovascular system, gland, head mesenchyme, integumental system, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|26110	OMIM|109135;HPO|558|Autosomal dominant inheritance, Autosomal recessive inheritance, Cryptorchidism, Decreased testicular size, Gynecomastia, Hypogonadotrophic hypogonadism, Micropenis, Primary amenorrhea, Sparse axillary hair, Sparse pubic hair
Astrocyte	APC	0.811854442	1.31E-05	Adhesion molecule	BrainSpLMD|324;Eurexp|euxassay_007660|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|11576	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611731;COSMIC||colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS, colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS;HPO|324|Abdominal pain, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Adenomatous colonic polyposis, Adrenocortical carcinoma, Astrocytoma, Autosomal dominant inheritance, Colon cancer, Desmoid tumors, Epidermoid cyst, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hyperpigmentation of the skin, Intestinal polyposis, Keloids, Malabsorption, Micronodular cirrhosis, Multiple gastric polyps, Multiple lipomas, Myalgia, Neoplasm of the stomach, Odontoma, Renal cell carcinoma, Small intestine carcinoid, Somatic mutation, Stomach cancer, Subacute progressive viral hepatitis, Subcutaneous nodule, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Variable expressivity
Astrocyte	SLC16A1	1.211296336	1.39E-05	Membrane transport protein	BrainSpLMD|6566;Eurexp|euxassay_003351|Meckel's cartilage, axial muscle, capsule, clavicle, epidermis, foregut-midgut junction, glomeruli, hindgut, incisor, left lung, lobe, loop, marginal layer, meninges, midgut, molar, nasal septum, olfactory, pancreas, rectum, right lung, submandibular gland primordium, testis, thymus primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|600682;HPO|6566|Autosomal dominant inheritance, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise-induced muscle cramps, Exercise-induced muscle fatigue, Exercise-induced muscle stiffness, Feeding difficulties, Global developmental delay, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability, Ketoacidosis, Ketotic hypoglycemia, Pancreatic islet-cell hyperplasia
Astrocyte	MEGF10	0.443764546	1.40E-05	Structural protein	BrainSpLMD|84466	SFARI||Autism, 4 - Minimal evidence;OMIM|612453;HPO|84466|Areflexia, Autosomal recessive inheritance, Camptodactyly of finger, Cleft palate, Congenital onset, Decreased fetal movement, Diaphragmatic paralysis, Difficulty running, Dysphagia, Facial palsy, Failure to thrive, High palate, Hyporeflexia, Motor delay, Nasal speech, Neonatal hypotonia, Pectus excavatum, Poor head control, Respiratory distress, Respiratory failure, Restrictive ventilatory defect, Scoliosis, Talipes equinovarus, Variable expressivity
Astrocyte	KANK1	1.76755533	1.42E-05	Unclassified	BrainSpLMD|23189;Eurexp|euxassay_008605|alar columns, anterior, aorta, arytenoid, axial skeleton, basioccipital bone, basisphenoid bone, brain, cartilaginous ring, choroid invagination, choroid plexus, cortex, cricoid, epidermis, floor plate, floorplate, footplate, handplate, incisor, mandible, maxilla, mesenchyme, molar, naris, nasal septum, orbito-sphenoid, pelvic girdle, petrous part, rib, roof plate, skeletal muscle, spinal cord, sternum, stomach, submandibular gland primordium, thyroid, trabeculae carneae, turbinate bones, valve, ventricular layer, vibrissa	SFARI||Autism, No category;OMIM|607704;HPO|23189|Autosomal dominant inheritance with maternal imprinting, Cerebral atrophy, Cerebral palsy, Intellectual disability, Muscular hypotonia, Spastic tetraplegia, Ventriculomegaly
Astrocyte	CADM2	1.443367247	1.44E-05	Adhesion molecule	BrainSpLMD|253559;Eurexp|euxassay_011528|basioccipital bone, femur, humerus, mantle layer, midbrain, orbito-sphenoid, pelvic girdle, petrous part, scapula, trigeminal V, turbinate	SFARI||Autism, No category;OMIM|609938
Astrocyte	PARP9	2.323129331	1.63E-05	Unclassified	BrainSpLMD|83666;Eurexp|euxassay_010721|thymus primordium	OMIM|612065
Astrocyte	PCDH7	1.132277753	1.68E-05	Adhesion molecule	BrainSpLMD|5099;Eurexp|euxassay_009713|bladder, dorsal root ganglion, mantle layer, mesenchyme, olfactory, stomach, trigeminal V, vestibulocochlear VIII	OMIM|602988
Astrocyte	CACNB2	0.929469147	1.73E-05	Voltage gated channel	BrainSpLMD|783;Eurexp|euxassay_008283|epithalamus, marginal layer, ventricular layer	SFARI||Autism, 3 - Suggestive evidence;OMIM|600003;HPO|783|Atrial fibrillation, Autosomal dominant inheritance, Shortened QT interval, Syncope
Astrocyte	SEPT7P9	0.534485263	1.74E-05			
Astrocyte	FGFBP3	1.153461967	1.80E-05	Unclassified	BrainSpLMD|143282;Eurexp|euxassay_000173|basal columns, basal plate, corpus striatum, floor plate, floorplate, mantle layer, metencephalon, spinal cord, ventral grey horn, ventricular layer	SFARI||Autism, 5 - Hypothesized but untested
Astrocyte	NTNG1	1.096791729	1.82E-05	Unclassified	BrainSpLMD|22854;BrainSpMouseDev|56653	SFARI||Autism, 4 - Minimal evidence;OMIM|608818;HPO|22854|Abnormality of movement, Abnormality of the antitragus, Abnormality of the fingernails, Abnormality of the metacarpal bones, Aplasia/Hypoplasia of the cerebellum, Camptodactyly of finger, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Developmental regression, EEG abnormality, Fine hair, Gastroesophageal reflux, Hearing impairment, Intellectual disability, Long philtrum, Microcephaly, Nephrolithiasis, Seizures, Spasticity, Thick vermilion border, Underdeveloped nasal alae, Ventriculomegaly, Wide mouth, Wide nose
Astrocyte	SLC35F1	0.96831006	1.82E-05	Integral membrane protein	Eurexp|euxassay_019705|dorsal root ganglion, embryo, glossopharyngeal IX, intermediate grey horn, mantle layer, rest of cerebellum, trigeminal V, ventral grey horn, ventricular layer	
Astrocyte	CSMD1	0.855194354	1.86E-05	Integral membrane protein	BrainSpLMD|64478	SFARI||Autism, No category;OMIM|608397
Astrocyte	HSPA2	0.902849872	1.90E-05	Heat shock protein	BrainSpLMD|3306;Eurexp|euxassay_003311|basal plate, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, pancreas, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|140560
Astrocyte	EFCAB14	1.044865615	1.90E-05	Unclassified		
Astrocyte	NLGN1	0.566916017	1.91E-05	Adhesion molecule	BrainSpLMD|22871	SFARI||Autism, 3 - Suggestive evidence;OMIM|600568
Astrocyte	DAG1	1.317266752	1.92E-05	Adhesion molecule	BrainSpLMD|1605	OMIM|128239;HPO|1605|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Absent septum pellucidum, Absent speech, Agenesis of corpus callosum, Ankle contracture, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Autosomal recessive inheritance, Buphthalmos, Cataract, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral calcification, Chorioretinal dysplasia, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Delayed speech and language development, Elevated serum creatine phosphokinase, Generalized hypotonia, Glaucoma, Global developmental delay, Gowers sign, Hydrocephalus, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hyporeflexia, Infantile onset, Intellectual disability, Leukodystrophy, Limb-girdle muscle weakness, Lissencephaly, Lumbar hyperlordosis, Macrocephaly, Macrogyria, Metatarsus valgus, Microphthalmia, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Myopia, Optic atrophy, Pachygyria, Polymicrogyria, Poor head control, Respiratory failure, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Skeletal muscle atrophy, Specific learning disability, Variable expressivity, Ventriculomegaly
Astrocyte	SLC25A27	1.33369197	2.01E-05	Membrane transport protein	Eurexp|euxassay_014487|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|613725
Astrocyte	ACTN2	1.947936022	2.01E-05	Cytoskeletal associated protein	BrainSpLMD|88	OMIM|102573;HPO|88|Autosomal dominant inheritance, Dilated cardiomyopathy, Endocardial fibroelastosis, Endocardial fibrosis, Phenotypic variability
Astrocyte	LRP4	1.766067729	2.04E-05	Cell surface receptor	Eurexp|euxassay_011129|alar columns, epithelium, glomeruli, incisor, mantle layer, molar, olfactory, ventricular layer, vibrissa	OMIM|604270;HPO|4038|2-3 finger syndactyly, Abnormal cortical bone morphology, Abnormality of the nose, Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital onset, Craniofacial hyperostosis, Curved distal phalanges of the hand, Cutaneous finger syndactyly, Diaphyseal thickening, Difficulty walking, Downslanted palpebral fissures, Facial palsy, Feeding difficulties, Fingernail dysplasia, Frontal bossing, Hearing impairment, Hypertelorism, Hypoplasia of the radius, Hypoplasia of the ulna, Hyporeflexia, Increased bone mineral density, Macrocephaly, Mandibular prognathia, Micrognathia, Nail dysplasia, Prominent forehead, Ptosis, Renal agenesis, Renal hypoplasia, Sensorineural hearing impairment, Short finger, Syndactyly, Tall stature
Astrocyte	STK3	1.484578716	2.12E-05	Serine/threonine kinase	BrainSpLMD|6788	OMIM|605030
Astrocyte	SPECC1	1.143878448	2.15E-05	Unclassified	BrainSpLMD|92521;Eurexp|euxassay_013924|aorta, liver, molar, ventricular layer	OMIM|608793;COSMIC||JMML
Astrocyte	GAS1	1.288617569	2.29E-05	Cell cycle control protein	BrainSpLMD|2619;BrainSpMouseDev|14227	OMIM|139185
Astrocyte	BEND7	0.494842662	2.33E-05	Unclassified	BrainSpLMD|222389	
Astrocyte	NOG	1.519176088	2.46E-05	Secreted polypeptide	BrainSpLMD|9241;Eurexp|euxassay_009618|axial skeleton, mandible, mantle layer, nasal septum, otic capsule, phalanx, rib, sternum, thyroid, turbinate bones, ventral grey horn;BrainSpMouseDev|17888	OMIM|602991;HPO|9241|2-3 toe syndactyly, Abnormal vertebral morphology, Abnormality of the ankles, Absent distal interphalangeal creases, Absent distal phalanges, Absent fingernail, Absent phalangeal crease, Anonychia, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the nails, Aplastic/hypoplastic toenail, Autosomal dominant inheritance, Brachydactyly, Broad hallux, Broad thumb, Camptodactyly of finger, Carpal synostosis, Clinodactyly, Conductive hearing impairment, Congenital stapes ankylosis, Cubitus valgus, Cutaneous finger syndactyly, Cutaneous syndactyly of toes, Dislocated radial head, Elbow ankylosis, Elbow dislocation, Enlargement of the costochondral junction, Finger syndactyly, Fusion of midphalangeal joints, Hypermetropia, Hypoplastic nasal septum, Hypoplastic spinal processes, Long nose, Low hanging columella, Lower limb undergrowth, Metacarpophalangeal synostosis, Narrow face, Pectus excavatum, Progressive conductive hearing impairment, Progressive fusion 2nd-5th pip joints, Proximal placement of thumb, Proximal symphalangism, Proximal symphalangism of hands, Proximal/middle symphalangism of 5th finger, Radial deviation of finger, Sensorineural hearing impairment, Short 1st metacarpal, Short 5th metacarpal, Short distal phalanx of finger, Short distal phalanx of toe, Short finger, Short foot, Short hallux, Short humerus, Short lower limbs, Short philtrum, Short stature, Short sternum, Single transverse palmar crease, Spinal canal stenosis, Stapes ankylosis, Strabismus, Symphalangism affecting the phalanges of the hand, Synostosis of carpal bones, Tarsal synostosis, Thick upper lip vermilion, Thin upper lip vermilion, Toe syndactyly, Type B brachydactyly, Underdeveloped nasal alae, Waddling gait
Astrocyte	ENO1	0.594863094	2.63E-05	Enzyme: Hydratase	BrainSpLMD|2023	OMIM|172430
Astrocyte	ZC3HAV1	2.022874987	2.73E-05	-	BrainSpLMD|56829;Eurexp|euxassay_012472|lobe, thymus primordium	OMIM|607312
Astrocyte	DSEL	1.036815812	2.84E-05	Enzyme: Sulphotransferase	BrainSpLMD|92126	OMIM|611125
Astrocyte	DPP6	0.918124462	3.00E-05	Membrane transport protein	BrainSpLMD|1804;Eurexp|euxassay_004610|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, intervertebral disc, neural retina, olfactory, pelvis, spinal cord, stroma, trigeminal V, vagus X, vertebral cartilage condensation, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|126141;HPO|1804|Alternating esotropia, Amblyopia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Chorioretinal degeneration, Decreased body weight, Delayed skeletal maturation, Intellectual disability, Microcephaly, Reduced number of teeth, Scoliosis, Short stature
Astrocyte	PHLPP1	0.588440354	3.01E-05	Unclassified	BrainSpLMD|23239;Eurexp|euxassay_010722|ventricular layer	OMIM|609396
Astrocyte	MPC1	1.130796941	3.01E-05	Unclassified	BrainSpLMD|51660;Eurexp|euxassay_014791|adrenal gland, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, thoracic, thymus primordium, trigeminal V	OMIM|614738;HPO|51660|Autosomal recessive inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hypoglycemia, Increased serum lactate, Increased serum pyruvate, Lactic acidosis, Organic aciduria, Variable expressivity
Astrocyte	HS2ST1	1.342333572	3.23E-05	Enzyme: Sulphotransferase	BrainSpLMD|9653	OMIM|604844
Astrocyte	GULP1	1.800917581	3.40E-05	Adapter molecule	BrainSpLMD|51454	OMIM|608165
Astrocyte	ECHDC2	1.034519356	3.61E-05	Unclassified	BrainSpLMD|55268	
Astrocyte	AC253572.1	0.636742074	3.72E-05			
Astrocyte	OLFM2	0.583063143	3.86E-05	Unclassified	BrainSpLMD|93145;Eurexp|euxassay_002510|brain, glossopharyngeal IX, neural retina, orbito-sphenoid, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|617492
Astrocyte	RIN2	0.818287015	3.94E-05	Guanine nucleotide exchange factor	BrainSpLMD|54453	OMIM|610222;HPO|54453|Abnormality of the sternum, Alopecia, Autosomal recessive inheritance, Bruising susceptibility, Coarse facial features, Cognitive impairment, Cutis laxa, Decreased body weight, Downslanted palpebral fissures, Eclabion, Gingival overgrowth, High palate, High pitched voice, Hirsutism, Hyperextensible skin, Infra-orbital fold, Irregular dentition, Joint hypermobility, Long philtrum, Muscular hypotonia, Palpebral edema, Pes planus, Prolonged bleeding time, Redundant skin, Scoliosis, Short stature, Sparse and thin eyebrow, Sparse hair, Sparse scalp hair, Thick lower lip vermilion, Umbilical hernia, Upper eyelid edema
Astrocyte	LIMA1	1.398177807	3.95E-05	Cytoskeletal protein	BrainSpLMD|51474	OMIM|608364
Astrocyte	RGMA	0.368781002	4.06E-05	Unclassified	BrainSpLMD|56963;Eurexp|euxassay_007168|dorsal grey horn, facial VII, footplate, handplate, mantle layer, marginal layer, pancreas, ventral grey horn, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	OMIM|607362
Astrocyte	2-Sep	0.906760426	4.15E-05			
Astrocyte	ELOVL2	1.676519458	4.25E-05	Unclassified	BrainSpLMD|54898;Eurexp|euxassay_006217|adenohypophysis, brain, calyces, cervical, cervico-thoracic, left, olfactory, right, spinal cord, thoracic, thyroid	OMIM|611814
Astrocyte	SLC25A5	1.043311313	4.26E-05	Integral membrane protein		OMIM|300150
Astrocyte	IQSEC1	0.813427173	4.38E-05	Guanine nucleotide exchange factor	BrainSpLMD|9922;Eurexp|euxassay_014196|mantle layer, naris, orbito-sphenoid, otic capsule, turbinate bones, ventricular layer, vestibulocochlear VIII	OMIM|610166
Astrocyte	CAMK2D	0.695434229	4.41E-05	Serine/threonine kinase	BrainSpLMD|817;Eurexp|euxassay_010500|facial VII, glossopharyngeal IX, mantle layer, mesenchyme, olfactory, trigeminal V, vagus X, ventricle, ventricular layer	OMIM|607708
Astrocyte	COMT	1.491256353	4.53E-05	Enzyme: Acyltransferase	BrainSpLMD|1312;Eurexp|euxassay_018193|basal columns, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, mantle layer, thymus primordium, trigeminal V, vagus X;BrainSpMouseDev|12629	OMIM|116790;HPO|1312|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
Astrocyte	BBX	1.136783282	5.09E-05	Transcription factor	BrainSpLMD|56987;Eurexp|euxassay_001866|cortex, mantle layer, pituitary, testis, ventricular layer;BrainSpMouseDev|46349	
Astrocyte	TAOK3	0.896408052	5.30E-05	Serine/threonine kinase	BrainSpLMD|51347	OMIM|616711
Astrocyte	SESN3	0.95611247	5.45E-05	Cell cycle control protein	BrainSpLMD|143686	OMIM|607768
Astrocyte	FHL1	0.996348457	5.60E-05	Unclassified	BrainSpLMD|2273;Eurexp|euxassay_018418|bladder, brain, diaphragm, dorsal root ganglion, head mesenchyme, limb, penis, rectum, spinal cord, tongue, vertebral axis muscle system	OMIM|300163;HPO|2273|Adult onset, Areflexia, Arrhythmia, Back pain, Elevated serum creatine phosphokinase, Flexion contracture, Foot dorsiflexor weakness, Frequent falls, Hyperlordosis, Hypertrophic cardiomyopathy, Hyporeflexia, Increased variability in muscle fiber diameter, Kyphosis, Lower limb muscle weakness, Myofibrillar myopathy, Progressive, Proximal muscle weakness, Rapidly progressive, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Rimmed vacuoles, Scapular winging, Scapuloperoneal myopathy, Scapuloperoneal weakness, Scoliosis, Short neck, Skeletal muscle atrophy, Spinal rigidity, Steppage gait, Waddling gait, X-linked dominant inheritance, X-linked inheritance, X-linked recessive inheritance
Astrocyte	DAD1	0.772344611	5.62E-05	Adapter molecule	BrainSpLMD|1603;Eurexp|euxassay_012117|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|600243
Astrocyte	WSB1	0.33023752	5.73E-05	Unclassified	BrainSpLMD|26118;Eurexp|euxassay_005031|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610091
Astrocyte	ACACB	2.253355605	5.80E-05	Enzyme: Carboxylase	BrainSpLMD|32	OMIM|601557
Astrocyte	CTNND2	1.564864315	6.11E-05	Adhesion molecule	BrainSpLMD|1501;Eurexp|euxassay_018872|dorsal root ganglion, facial VII, neural retina, trigeminal V	SFARI||Autism, 2 - Strong candidate;OMIM|604275;COSMIC||prostae adenocarcinoma, GIST;HPO|1501|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
Astrocyte	CADM4	2.063232704	6.31E-05	Unclassified	BrainSpLMD|199731	OMIM|609744
Astrocyte	GABPB1.AS1	0.775789891	6.51E-05			
Astrocyte	PTPN13	0.882230717	6.58E-05	Tyrosine phosphatase	BrainSpLMD|5783	OMIM|600267;COSMIC||lung, NSCLC, gastric, peritoneal carcinomatosis, hepatocellular
Astrocyte	NOTCH3	1.391353681	7.06E-05	Cell surface receptor	BrainSpLMD|4854;BrainSpMouseDev|17898	OMIM|600276;HPO|4854|Abnormal electroretinogram, Abnormal form of the vertebral bodies, Abnormality of the hair, Abnormality of the metaphysis, Abnormality of the middle ear ossicles, Abnormality of the musculature, Abnormality of the rib cage, Abnormality of the skin, Abnormality of the skull, Abnormality of the thorax, Abnormality of visual evoked potentials, Adult onset, Amaurosis fugax, Aphasia, Arachnoid cyst, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Autosomal dominant inheritance, Biconcave vertebral bodies, Bone cyst, Cerebral cortical atrophy, Cerebral ischemia, Chondrocalcinosis, Coarse hair, Coma, Conductive hearing impairment, Confusion, Cranial nerve paralysis, Craniofacial hyperostosis, Cryptorchidism, Dementia, Dental crowding, Depressivity, Developmental regression, Dolichocephaly, Downslanted palpebral fissures, Dural ectasia, EEG abnormality, Elevated serum creatine phosphokinase, Fever, Gait disturbance, Generalized hypotonia, Gingival fibromatosis, Hemiplegia, High palate, High, narrow palate, Hypertelorism, Impaired pain sensation, Inguinal hernia, Joint hyperflexibility, Joint hypermobility, Kyphosis, Leukoencephalopathy, Long philtrum, Low posterior hairline, Low-set ears, Malar flattening, Memory impairment, Meningocele, Micrognathia, Migraine, Motor delay, Narrow face, Neoplasm of the lung, Neoplasm of the skin, Nonarteritic anterior ischemic optic neuropathy, Patent ductus arteriosus, Pectus excavatum, Platybasia, Posteriorly rotated ears, Prominent metopic ridge, Pseudobulbar paralysis, Ptosis, Recurrent subcortical infarcts, Retinal arteriolar tortuosity, Sclerosis of skull base, Scoliosis, Seizures, Sensory neuropathy, Short nasal bridge, Short neck, Short stature, Smooth philtrum, Spasticity, Stroke, Subcortical dementia, Subcutaneous nodule, Syringomyelia, Umbilical hernia, Urinary incontinence, Varicose veins, Vertebral fusion, Visual impairment, Wormian bones
Astrocyte	SEPT7P3	0.681034124	7.34E-05			
Astrocyte	PCDH9	0.736341882	7.43E-05	Adhesion molecule	BrainSpLMD|5101;Eurexp|euxassay_014258|facial VII, mantle layer, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|603581
Astrocyte	CLSTN1	1.649848429	7.58E-05	Calcium binding protein	BrainSpLMD|22883;BrainSpMouseDev|41788	OMIM|611321
Astrocyte	LIFR	1.039978359	8.24E-05	Cytokine receptor	BrainSpLMD|3977;Eurexp|euxassay_010649|axial muscle, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, orbito-sphenoid, thymus primordium, thyroid, tongue, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16651	OMIM|151443;COSMIC||salivary adenoma;HPO|3977|Abnormal metaphyseal trabeculation, Abnormality of dental enamel, Abnormality of vision, Absent patellar reflexes, Adducted thumb, Apnea, Asthma, Autosomal recessive inheritance, Blotching pigmentation of the skin, Broad ischia, Camptodactyly of finger, Contracture of the proximal interphalangeal joint of the 5th finger, Dysautonomia, Dysphagia, Elbow flexion contracture, Enlarged joints, Episodic fever, Feeding difficulties, Feeding difficulties in infancy, Femoral bowing, Flared metaphysis, Flexion contracture of toe, Frontal bossing, Generalized hypotonia, Genu valgum, Hoarse voice, Hyperhidrosis, Hypohidrosis, Hypoplastic iliac body, Impaired pain sensation, Intrauterine growth retardation, Knee flexion contracture, Lacrimation abnormality, Low-set ears, Malar flattening, Metaphyseal rarefaction, Metaphyseal widening, Micrognathia, Micromelia, Midface retrusion, Myotonia, Nasal speech, Oligohydramnios, Opacification of the corneal stroma, Osteopenia, Osteoporosis, Paresthesia, Pathologic fracture, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Pursed lips, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Short neck, Short nose, Short palpebral fissure, Short phalanx of finger, Short stature, Short tibia, Single transverse palmar crease, Skeletal dysplasia, Smooth tongue, Square face, Talipes, Talipes equinovarus, Talipes valgus, Thickened cortex of long bones, Thin ribs, Thin skin, Tibial bowing, Trismus, Ulnar deviation of finger, Wide nasal base
Astrocyte	NBPF10	0.827070354	8.49E-05			OMIM|614000
Astrocyte	CAMK2G	0.321689277	8.89E-05	Serine/threonine kinase	BrainSpLMD|818;Eurexp|euxassay_017931|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602123
Astrocyte	IRF2	1.188306775	9.28E-05	Transcription factor	BrainSpLMD|3660;BrainSpMouseDev|16136	OMIM|147576
Astrocyte	ABHD2	1.071642708	9.62E-05	Enzyme: Hydrolase	BrainSpLMD|11057;Eurexp|euxassay_002585|adrenal gland, choroid plexus, cochlea, dorsal root ganglion, lateral recess, lung, naris, neural retina, olfactory, penis, respiratory, stomach, stroma, submandibular gland primordium, trigeminal V, vestibulocochlear VIII	OMIM|612196
Astrocyte	ITM2B	0.778995561	0.000100761	Integral membrane protein	BrainSpLMD|9445	OMIM|603904;HPO|9445|Ataxia, Autosomal dominant inheritance, Cerebral amyloid angiopathy, Dementia, Hearing impairment, Hypertonia, Intention tremor, Neurofibrillary tangles, Optic disc pallor, Photophobia, Posterior polar cataract, Progressive neurologic deterioration, Psychosis, Retinal dystrophy, Rigidity, Spasticity, Tremor
Astrocyte	BAALC	1.902664242	0.000102067	Unclassified	BrainSpLMD|79870	OMIM|606602
Astrocyte	FUT9	0.860698219	0.000105118	Enzyme: Fucosyltransferase	BrainSpLMD|10690	OMIM|606865
Astrocyte	C3orf70	1.183091191	0.00011051	Unclassified	Eurexp|euxassay_013634|dorsal grey horn, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa	
Astrocyte	PPIB	0.432870352	0.00011069	Chaperone	BrainSpLMD|5479;Eurexp|euxassay_000530|basioccipital bone, basisphenoid bone, cranium, nucleus pulposus, orbito-sphenoid, otic capsule, rib, sphenoid	OMIM|123841;HPO|5479|Autosomal recessive inheritance, Blue sclerae, Bowing of limbs due to multiple fractures, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Kyphosis, Multiple prenatal fractures, Pectus carinatum, Pectus excavatum, Recurrent fractures, Scoliosis, Wormian bones
Astrocyte	NTM	0.724464052	0.000111368	Adhesion molecule	BrainSpLMD|50863;Eurexp|euxassay_012548|axial skeleton, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, meninges, mesenchyme, neural retina, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|87964	OMIM|607938
Astrocyte	NDUFA4	0.904151091	0.000112946	Enzyme: Oxidoreductase	BrainSpLMD|4697;Eurexp|euxassay_003412|adenohypophysis, adrenal gland, bladder, brain, dorsal root ganglion, facial VII, glossopharyngeal IX, heart, incisor, liver, lung, metanephros, midgut, molar, neural retina, olfactory, orbito-sphenoid, pancreas, respiratory, segmental spinal nerve, spinal cord, stomach, stroma, submandibular gland primordium, thymus primordium, tongue, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|603833
Astrocyte	CD99	1.502533383	0.00011802	Unclassified		OMIM|450000
Astrocyte	SLC18B1	0.694845833	0.000118741	Unclassified	BrainSpLMD|116843	OMIM|613361
Astrocyte	BMP7	0.361976411	0.000125517	Ligand	BrainSpLMD|655;BrainSpMouseDev|11948	OMIM|112267
Astrocyte	VEGFA	0.83523597	0.000125848	Growth factor	BrainSpLMD|7422;BrainSpMouseDev|22096	OMIM|192240
Astrocyte	SEL1L3	1.03384862	0.000130788	Integral membrane protein	BrainSpLMD|23231;Eurexp|euxassay_002775|basal plate, calyces, cerebral cortex, corpus striatum, cortex, dorsal root ganglion, ductus deferens, foregut-midgut junction, glossopharyngeal IX, hindgut, marginal layer, midgut, rectum, stomach, submandibular gland primordium, trigeminal V, urethra, vestibulocochlear VIII	
Astrocyte	MTMR10	2.57091135	0.000131108	Unclassified	BrainSpLMD|54893;Eurexp|euxassay_012297|olfactory, ventricular layer, vibrissa, vomeronasal organ	
Astrocyte	IGFBP5	2.405705053	0.000131411	Adhesion molecule	BrainSpLMD|3488;Eurexp|euxassay_001623|limb, tail, vertebral axis muscle system;BrainSpMouseDev|15784	OMIM|146734
Astrocyte	GRAMD1C	0.719144024	0.000134017	Unclassified;Integral membrane protein	BrainSpLMD|54762;Eurexp|euxassay_005110|adenohypophysis, liver, olfactory, oral region, ventricular layer	
Astrocyte	HSD17B12	1.556898851	0.000134903	Enzyme: Dehydrogenase	BrainSpLMD|51144	OMIM|609574
Astrocyte	FADS2	0.677513047	0.000143467	Enzyme: Oxidase	BrainSpLMD|9415	OMIM|606149
Astrocyte	HIBCH	1.027455529	0.000145173	Enzyme: Hydrolase	BrainSpLMD|26275	OMIM|610690;HPO|26275|Abnormal facial shape, Abnormal vertebral morphology, Agenesis of corpus callosum, Aminoaciduria, Autosomal recessive inheritance, Developmental regression, Dysmetria, Dystonia, Epicanthus, Feeding difficulties, Generalized hypotonia, Global developmental delay, Infantile onset, Muscular hypotonia, Myoclonus, Nystagmus, Seizures, Strabismus, Tetralogy of Fallot
Astrocyte	HSD17B7P2	1.415380745	0.000150756		BrainSpLMD|158160	
Astrocyte	STAT3	0.678360515	0.00015082	Transcription factor	BrainSpLMD|6774;Eurexp|euxassay_004868|axial skeleton, choroid invagination, dorsal grey horn, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mantle layer, mesenchyme, metatarsus, phalanx, thymus primordium, trigeminal V, ventral grey horn, ventricular layer;BrainSpMouseDev|20610	OMIM|102582;COSMIC||T-cell large granular lymphocytic leukaemia, paediatric large granular lymphocytic leukaemia, IPEX-like syndrome;HPO|6774|Abnormal heart morphology, Abnormality of the hair, Arthrogryposis multiplex congenita, Atelectasis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Autosomal dominant inheritance, Bilateral ptosis, Celiac disease, Chronic otitis media, Cleft palate, Coarse facial features, Contractures of the joints of the lower limbs, Cough, Decreased antibody level in blood, Deeply set eye, Dehydration, Delayed eruption of teeth, Downturned corners of mouth, Dystrophic fingernails, Eczema, Eczematoid dermatitis, Eosinophilia, Failure to thrive, Frontal bossing, Generalized abnormality of skin, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Gingivitis, Global developmental delay, Glycosuria, High palate, Hyperglycemia, Hypertelorism, Hypovolemia, Increased IgE level, Infantile onset, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Ketonuria, Microalbuminuria, Motor delay, Neonatal insulin-dependent diabetes mellitus, Osteopenia, Papule, Paronychia, Persistence of primary teeth, Prominent forehead, Prominent metopic ridge, Pruritus, Recurrent Staphylococcus aureus infections, Recurrent fractures, Recurrent fungal infections, Recurrent respiratory infections, Recurrent sinopulmonary infections, Reduced pancreatic beta cells, Retinopathy, Scoliosis, Short stature, Skin rash, Skin ulcer, Weight loss, Wide nasal bridge, Wide nose
Astrocyte	LSAMP	0.59578421	0.000152918	Adhesion molecule	BrainSpLMD|4045	OMIM|603241
Astrocyte	FAM19A5	1.018237165	0.000157615	Chemokine	BrainSpLMD|25817;Eurexp|euxassay_011592|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, marginal layer, spinal cord, trigeminal V, vagus X	OMIM|617499
Astrocyte	SSR3	1.074669132	0.000162376	Membrane transport protein	BrainSpLMD|6747	OMIM|606213
Astrocyte	MYO6	1.092171207	0.000164899	Motor protein	BrainSpLMD|4646	OMIM|600970;HPO|4646|Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment
Astrocyte	CRYL1	1.534973152	0.000165446	Enzyme: Oxidoreductase	BrainSpLMD|51084;Eurexp|euxassay_006081|epithelium, hindgut, midgut, olfactory, rectum, respiratory, thymus primordium	OMIM|609877
Astrocyte	EFCAB2	1.232190073	0.000167104	Calcium binding protein	BrainSpLMD|84288;Eurexp|euxassay_004433|choroid invagination, mantle layer, meninges	
Astrocyte	RNF13	0.537262855	0.000196165	Ubiquitin proteasome system protein	BrainSpLMD|11342;Eurexp|euxassay_010064|ventricular layer	OMIM|609247
Astrocyte	IMPACT	1.906297243	0.000197722	Unclassified	BrainSpLMD|55364	OMIM|615319
Astrocyte	ZMYM2	0.471473022	0.000203289	Unclassified;Transcription regulatory protein	BrainSpLMD|7750	OMIM|602221;COSMIC||MPN, NHL
Astrocyte	SEPP1	0.553894559	0.000218934			
Astrocyte	HADHB	0.863337994	0.000220488	Enzyme: Dehydrogenase	BrainSpLMD|3032	OMIM|143450;HPO|3032|Abnormality of the amniotic fluid, Autosomal recessive inheritance, Congestive heart failure, Dilated cardiomyopathy, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Generalized muscle weakness, Global developmental delay, Hydrops fetalis, Hyperammonemia, Hypoketotic hypoglycemia, Lactic acidosis, Myalgia, Myoglobinuria, Peripheral neuropathy, Prenatal maternal abnormality, Respiratory failure, Rhabdomyolysis, Small for gestational age
Astrocyte	ST3GAL5	0.867166202	0.000223533	Enzyme: Sialyltransferase	BrainSpLMD|8869	OMIM|604402;HPO|8869|Absent speech, Autosomal recessive inheritance, Choreoathetosis, Cortical visual impairment, Developmental regression, Developmental stagnation at onset of seizures, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Generalized tonic-clonic seizures, Global brain atrophy, Global developmental delay, Hypermelanotic macule, Hyporeflexia of upper limbs, Irritability, Lower limb hyperreflexia, Myoclonus, Optic atrophy, Status epilepticus, Visual loss, Vomiting
Astrocyte	ID4	1.688204823	0.00022455	Transcription regulatory protein	BrainSpLMD|3400;BrainSpMouseDev|15677	OMIM|600581
Astrocyte	RCN1	0.917630746	0.00022806	Calcium binding protein	BrainSpLMD|5954;Eurexp|euxassay_006169|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, peripheral nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|19435	OMIM|602735
Astrocyte	FABP5P7	0.497754909	0.000239541			
Astrocyte	ITPK1	0.687347523	0.000248423	Enzyme: Phosphotransferase	BrainSpLMD|3705;Eurexp|euxassay_007834|dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, mesentery, midgut, trigeminal V, vagus X, vibrissa	OMIM|601838
Astrocyte	RNF180	0.902133822	0.000248871	Unclassified	Eurexp|euxassay_010508|dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, lens, medulla, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|616015
Astrocyte	HLA.C	0.328216539	0.000252549			
Astrocyte	TGIF1	1.54185265	0.000261999	Transcription factor	BrainSpLMD|7050;Eurexp|euxassay_007804|cortex, fundus region, hindgut, lung, midgut, oesophagus, rectum, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|21574	OMIM|602630;HPO|7050|Absent nasal septal cartilage, Autosomal dominant inheritance, Depressed nasal bridge, Depressed nasal tip, Hypotelorism, Median cleft lip, Median cleft lip and palate, Ptosis, Semilobar holoprosencephaly
Astrocyte	RHOBTB3	1.074247118	0.000269052	GTPase	BrainSpLMD|22836;Eurexp|euxassay_004272|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|607353
Astrocyte	PSD2	1.272466178	0.000271889	Unclassified	BrainSpLMD|84249	
Astrocyte	ZIC5	0.608678826	0.000273388	DNA binding protein	BrainSpLMD|85416;BrainSpMouseDev|41618	
Astrocyte	CYP51A1P2	0.339480878	0.000276487			
Astrocyte	IGFBP2	0.457666526	0.000292992	Secreted polypeptide	BrainSpLMD|3485;BrainSpMouseDev|15781	OMIM|146731
Astrocyte	DNASE2	0.677736132	0.000293969	Deoxyribonuclease	BrainSpLMD|1777;Eurexp|euxassay_018821|olfactory, vibrissa	OMIM|126350
Astrocyte	HIST2H2BE	1.438729906	0.000308746	DNA binding protein	BrainSpLMD|8349	OMIM|601831
Astrocyte	GNG5	0.914637285	0.000308877	G protein	BrainSpLMD|2787;Eurexp|euxassay_007798|embryo	OMIM|600874
Astrocyte	SAT1	0.961019934	0.00031749	Enzyme: Acyltransferase	BrainSpLMD|6303;Eurexp|euxassay_018693|bladder, incisor, metanephros, olfactory, urethra, vibrissa	OMIM|313020;HPO|6303|Blepharitis, Conjunctivitis, Corneal dystrophy, Dry skin, Dystrophic fingernails, Ectropion, Facial erythema, Follicular hyperkeratosis, Folliculitis, Heterogeneous, Keratitis, Nail dysplasia, Palmoplantar keratoderma, Perifollicular fibrosis, Photophobia, Scarring alopecia of scalp, Sparse and thin eyebrow, Sparse eyelashes, X-linked recessive inheritance
Astrocyte	EEF1A1P6	0.546062127	0.000319292			
Astrocyte	SEMA6D	0.907800855	0.000319796	Membrane bound ligand	BrainSpLMD|80031;Eurexp|euxassay_010735|dorsal root ganglion, embryo, facial VII, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|84750	OMIM|609295
Astrocyte	UFL1	1.211319264	0.000321508	Unclassified	BrainSpLMD|23376	OMIM|613372
Astrocyte	PBXIP1	1.49421071	0.00032325	Transcription regulatory protein	BrainSpLMD|57326;Eurexp|euxassay_012529|choroid invagination, choroid plexus, diaphragm, floor plate, floorplate, midgut, skeletal muscle, stomach, ventricle, ventricular layer;BrainSpMouseDev|86886	
Astrocyte	NBPF8	0.415091353	0.000324392			OMIM|613998
Astrocyte	IFI6	0.866832449	0.000331836	Unclassified	BrainSpLMD|2537	OMIM|147572
Astrocyte	B3GNT1	0.894725845	0.000340562			
Astrocyte	SLC2A1	1.132978885	0.0003685	Membrane transport protein	BrainSpLMD|6513;Eurexp|euxassay_019681|Meckel's cartilage, axial skeleton, basisphenoid bone, brain, gut, incisor, labyrinth, lobe, lumen, meninges, mesenchyme, molar, neural retina, nucleus pulposus, olfactory, otic capsule, rectum, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, valve, ventricular layer, vestibular component, vibrissa;BrainSpMouseDev|20287	OMIM|138140;HPO|6513|Abnormality of erythrocytes, Absence seizures, Absent speech, Ataxia, Autosomal dominant inheritance, Cataract, Choreoathetosis, Confusion, Cyanosis, Delayed myelination, Delayed speech and language development, Dysarthria, Dystonia, EEG abnormality, Encephalopathy, Extrapyramidal dyskinesia, Generalized hyperreflexia, Global developmental delay, Headache, Hemiparesis, Hemolytic anemia, Hepatomegaly, Hyperactive deep tendon reflexes, Hyperreflexia, Hypoglycorrhachia, Inability to walk, Infantile onset, Intellectual disability, Jaundice, Lethargy, Microcephaly, Muscle stiffness, Nystagmus, Paralysis, Paresthesia, Paroxysmal dyskinesia, Paroxysmal involuntary eye movements, Progressive microcephaly, Seizures, Short stature, Spasticity, Splenomegaly, Status epilepticus, Torsion dystonia
Astrocyte	ABCD3	0.710007678	0.000371218	Integral membrane protein	BrainSpLMD|5825	OMIM|170995;HPO|5825|Autosomal recessive inheritance, Elevated hepatic transaminases, Hepatic failure, Hepatic fibrosis, Hepatomegaly, Infantile onset, Iron deficiency anemia, Jaundice, Progressive, Splenomegaly
Astrocyte	ZMAT1	1.139463036	0.000386858	DNA binding protein	BrainSpLMD|84460	OMIM|301007
Astrocyte	ADCY2	1.619306515	0.00039212	Adenylate cyclase	BrainSpLMD|108;BrainSpMouseDev|84170	OMIM|103071
Astrocyte	FYN	1.005510726	0.000406913	Tyrosine kinase	BrainSpLMD|2534;BrainSpMouseDev|14136	OMIM|137025
Astrocyte	AHCYL2	0.342726309	0.000410438	Enzyme: Lyase;Unclassified	BrainSpLMD|23382;Eurexp|euxassay_009089|adrenal gland, choroid plexus, facial VII, glossopharyngeal IX, hindgut, incisor, mantle layer, midgut, molar, naris, olfactory, rectum, stomach, trigeminal V, vagus X	OMIM|616520
Astrocyte	DGKB	1.404671911	0.000423775	Lipid Kinase	BrainSpLMD|1607;Eurexp|euxassay_009581|anterior abdominal wall, mantle layer, ventricular layer	OMIM|604070
Astrocyte	NTRK3	0.639146747	0.000443247	Receptor tyrosine kinase	BrainSpLMD|4916;Eurexp|euxassay_017897|corpus striatum, dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|17980	SFARI||Autism, 4 - Minimal evidence;OMIM|191316;COSMIC||congenital fibrosarcoma, secretory breast
Astrocyte	PARD3	1.937573154	0.00044684	Adapter molecule	BrainSpLMD|56288;BrainSpMouseDev|60394	OMIM|606745
Astrocyte	SPPL2A	1.476865652	0.000449641		BrainSpLMD|84888;Eurexp|euxassay_010397|clavicle, mandible, maxilla, orbito-sphenoid, rib, thymus primordium	OMIM|608238
Astrocyte	ZFYVE16	1.12400875	0.000470343	Membrane transport protein	BrainSpLMD|9765	OMIM|608880
Astrocyte	PTPRG	1.372311621	0.000492776	Receptor tyrosine phosphatase	BrainSpLMD|5793	OMIM|176886
Astrocyte	BMPR1A	0.416776531	0.000496132	Receptor serine/threonine kinase	BrainSpLMD|657;BrainSpMouseDev|11952	OMIM|601299;COSMIC||gastrointestinal polyps;HPO|657|Abdominal pain, Adenomatous colonic polyposis, Anemia, Autosomal dominant inheritance, Colon cancer, Failure to thrive, Hyperplastic colonic polyposis, Hypoalbuminemia, Hypokalemia, Juvenile colonic polyposis, Multiple gastric polyps
Astrocyte	EPB41L2	1.191946179	0.00049922	Cytoskeletal protein	BrainSpLMD|2037;Eurexp|euxassay_010082|calyces, clavicle, femur, fibula, fundus region, lens, lung, mandible, maxilla, meninges, olfactory, orbito-sphenoid, pelvis, rib, roof plate, tibia, ureter	OMIM|603237
Astrocyte	SPRED2	1.49426959	0.000503939	Unclassified	BrainSpLMD|200734	OMIM|609292
Astrocyte	HSP90B1	0.522567022	0.000506688	Heat shock protein	BrainSpLMD|7184;Eurexp|euxassay_000099|body-wall mesenchyme, dermis, epidermis, nucleus pulposus	OMIM|191175
Astrocyte	LTBP1	0.751433136	0.000517665	Extracellular matrix protein	BrainSpLMD|4052	OMIM|150390
Astrocyte	SMOC1	0.446759698	0.00052275	Extracellular matrix protein;Calcium binding protein	BrainSpLMD|64093;Eurexp|euxassay_003378|aorta, axial muscle, axial skeleton, cochlea, dorsal grey horn, hyoid bone, mantle layer, marginal layer, medulla, medullary region, meninges, mesenchyme, metatarsus, naris, nasal septum, pancreas, phalanx, saccule, thyroid, turbinate bones, ventral grey horn, ventricle, ventricular layer	OMIM|608488;HPO|64093|Abnormal form of the vertebral bodies, Abnormality of the cardiovascular system, Abnormality of the eyebrow, Abnormality of the hair, Abnormality of the metacarpal bones, Anophthalmia, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Blepharophimosis, Camptodactyly of 2nd-5th fingers, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Deep philtrum, Depressed nasal bridge, Downslanted palpebral fissures, Failure to thrive, Fibular hypoplasia, Finger syndactyly, Flared nostrils, Foot oligodactyly, Frontal bossing, Fused fourth and fifth metacarpals, Hand oligodactyly, High palate, Hip dislocation, Hypoplasia of the maxilla, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Large earlobe, Low-set ears, Low-set, posteriorly rotated ears, Microphthalmia, Optic atrophy, Postaxial foot polydactyly, Postaxial hand polydactyly, Posteriorly rotated ears, Postnatal growth retardation, Prominent forehead, Retrognathia, Sandal gap, Short nose, Short palpebral fissure, Short stature, Short tibia, Single transverse palmar crease, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Tibial bowing, Toe syndactyly, True anophthalmia
Astrocyte	PAX6	0.434342142	0.000524237	Transcription factor	BrainSpLMD|5080;BrainSpMouseDev|18274	SFARI||Autism, No category;OMIM|607108;HPO|5080|Abnormal best corrected visual acuity test, Abnormality of movement, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the vagina, Abnormality of vision, Amblyopia, Aniridia, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the macula, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Cerebellar hypoplasia, Chorioretinal coloboma, Congenital glaucoma, Congenital nystagmus, Contiguous gene syndrome, Corneal opacity, Cryptorchidism, Displacement of the external urethral meatus, EEG abnormality, Everted lower lip vermilion, Generalized hyperpigmentation, Glaucoma, Global developmental delay, Hearing abnormality, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Hypoplasia of the iris, Hypospadias, Intellectual disability, Keratitis, Mask-like facies, Microcephaly, Micrognathia, Motor delay, Muscular hypotonia, Nephroblastoma, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Optic disc hypoplasia, Optic nerve aplasia, Optic nerve coloboma, Optic nerve hypoplasia, Peripheral vitreous opacities, Peters anomaly, Postural tremor, Presenile cataracts, Pseudopapilledema, Ptosis, Reduced visual acuity, Retinal detachment, Scanning speech, Short stature, Slurred speech, Somatic mutation, Strabismus, Streak ovary, Visual impairment, Visual loss
Astrocyte	LHX2	1.103037406	0.000528292	Transcription regulatory protein	BrainSpLMD|9355;BrainSpMouseDev|16641	OMIM|603759
Astrocyte	PPARGC1A	1.513091869	0.000541012	Transcription regulatory protein	BrainSpLMD|10891;Eurexp|euxassay_006699|anterior, calyces, dorsal root ganglion, external, facial VII, fundus region, incisor, left ventricle, mantle layer, mesenchyme, oral epithelium, posterior, right ventricle, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|18780	OMIM|604517;HPO|10891|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
Astrocyte	LRP1	0.329454298	0.0005519	Cell surface receptor	BrainSpLMD|4035;Eurexp|euxassay_011128|mesenchyme, ventricular layer;BrainSpMouseDev|16741	OMIM|107770;HPO|4035|Autosomal recessive inheritance
Astrocyte	SCP2	0.985067979	0.000554935	Membrane transport protein	BrainSpLMD|6342	SFARI||Autism, 4 - Minimal evidence;OMIM|184755;HPO|6342|Abnormal motor neuron morphology, Abnormality of saccadic eye movements, Abnormality of thalamus morphology, Autosomal recessive inheritance, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Hyposmia, Intention tremor, Leukoencephalopathy, Peripheral neuropathy, Torticollis
Astrocyte	LAMB2	1.304293469	0.000555765	Extracellular matrix protein	BrainSpLMD|3913	OMIM|150325;HPO|3913|Areflexia, Autosomal recessive inheritance, Blindness, Diffuse mesangial sclerosis, Edema, Generalized hypotonia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Hypoproteinemia, Myopia, Neonatal onset, Nephrotic syndrome, Nystagmus, Posterior lenticonus, Proteinuria, Stage 5 chronic kidney disease, Strabismus
Astrocyte	MAML2	2.083845925	0.000579025	Transcription regulatory protein	BrainSpLMD|84441	OMIM|607537;COSMIC||salivary gland mucoepidermoid
Astrocyte	MAST4	0.888836572	0.000580326	Unclassified	BrainSpLMD|375449;Eurexp|euxassay_011099|mantle layer, marginal layer, thymus primordium, ventral grey horn	
Astrocyte	TMEM106B	0.855729106	0.000581544	Unclassified	BrainSpLMD|54664	OMIM|613413;HPO|54664|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Aggressive behavior, Alexia, Anxiety, Apraxia, Collectionism, Depressivity, Disinhibition, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, EEG with continuous slow activity, Echolalia, Emotional blunting, Frontotemporal cerebral atrophy, Frontotemporal dementia, Grammar-specific speech disorder, Hyperorality, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Perseveration, Personality changes, Poor speech, Restlessness, Restrictive behavior, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold
Astrocyte	TTC14	0.782545003	0.000601149	Unclassified	BrainSpLMD|151613	
Astrocyte	PHF11	1.878095096	0.000601631	DNA binding protein	BrainSpLMD|51131;Eurexp|euxassay_003051|axial muscle, incisor, orbito-sphenoid, submandibular gland primordium, thymus primordium, vibrissa	OMIM|607796
Astrocyte	IDH1	0.936095138	0.000611601	Enzyme: Dehydrogenase	BrainSpLMD|3417;Eurexp|euxassay_018329|adrenal gland, brain, cervical, cervico-thoracic, clavicle, dorsal root ganglion, glossopharyngeal IX, neural retina, rib, spinal cord, stroma, testis, thoracic, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	OMIM|147700;COSMIC||glioblastoma;HPO|3417|Abnormality of the metaphysis, Bone pain, Exostoses, Hemangiomatosis, Joint stiffness, Micromelia, Multiple enchondromatosis, Osteolysis, Scoliosis, Short stature, Subcutaneous nodule, Venous thrombosis, Visceral angiomatosis
Astrocyte	ALDH7A1	1.408357438	0.000625365	Enzyme: Oxidoreductase	BrainSpLMD|501	OMIM|107323;HPO|501|Abnormality of metabolism/homeostasis, Abnormality of movement, Autosomal recessive inheritance, Delayed speech and language development, EEG abnormality, Fetal distress, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Intellectual disability, Muscular hypotonia, Neonatal respiratory distress, Neurological speech impairment, Prenatal movement abnormality, Respiratory distress, Status epilepticus
Astrocyte	ACOX1	0.547546562	0.000655976	Enzyme: Oxidase	BrainSpLMD|51;Eurexp|euxassay_018548|dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, trigeminal V, vagus X, ventricular layer	OMIM|609751;HPO|51|Abnormal electroretinogram, Abnormality of metabolism/homeostasis, Abnormality of nervous system morphology, Abnormality of visual evoked potentials, Autosomal recessive inheritance, Babinski sign, Bilateral sensorineural hearing impairment, Brachycephaly, CNS demyelination, Death in infancy, Decreased light- and dark-adapted electroretinogram amplitude, Depressed nasal bridge, Developmental regression, Diffuse hepatic steatosis, Dysphagia, Dystonia, EEG abnormality, Elevated hepatic transaminases, Epicanthus, Failure to thrive, Frontal bossing, Gait disturbance, Global developmental delay, Hepatomegaly, Hyperreflexia, Hypertelorism, Hypertonia, Hypodontia, Infantile onset, Intellectual disability, progressive, Intellectual disability, severe, Inverted nipples, Irritability, Leukodystrophy, Low-set ears, Muscular hypotonia, Myopia, Neonatal hypotonia, Neurological speech impairment, No social interaction, Nystagmus, Optic atrophy, Pigmentary retinopathy, Respiratory insufficiency, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Strabismus, Tapetoretinal degeneration, Wide nasal bridge
Astrocyte	ZNF621	0.878156888	0.000661508	Transcription regulatory protein	BrainSpLMD|285268	
Astrocyte	CD81	1.11661112	0.000686605	Enzyme: Oxidase	BrainSpLMD|975;Eurexp|euxassay_012630|choroid plexus, mantle layer, stomach, ventral grey horn, ventricular layer	OMIM|186845;HPO|975|Anal atresia, Autoimmune thrombocytopenia, Autosomal recessive inheritance, Brachycephaly, Bronchiectasis, Chronic otitis media, Decreased antibody level in blood, Elevated hepatic transaminases, Hemolytic anemia, Immunodeficiency, Lymphadenopathy, Lymphopenia, Pneumonia, Purpura, Recurrent bacterial infections, Recurrent bronchitis, Recurrent respiratory infections, Splenomegaly
Astrocyte	SCN1A	1.210394151	0.000688193	Voltage gated channel	BrainSpLMD|6323;BrainSpMouseDev|20028	SFARI||Autism, 3 - Suggestive evidence;OMIM|182389;HPO|6323|Abnormality of brainstem morphology, Abnormality of movement, Absence seizures, Aggressive behavior, Ataxia, Atonic seizures, Atypical absence seizures, Autistic behavior, Autosomal dominant inheritance, Blindness, Cerebral atrophy, Childhood onset, Cortical visual impairment, Cutaneous photosensitivity, EEG abnormality, EEG with focal sharp slow waves, Encephalopathy, Epileptic encephalopathy, Falls, Febrile seizures, Focal clonic seizures, Focal seizures with impairment of consciousness or awareness, Generalized myoclonic seizures, Generalized tonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Hemiclonic seizures, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Hyperactivity, Infantile onset, Intellectual disability, Mental deterioration, Migraine with aura, Motor delay, Muscular hypotonia, Myoclonus, Neurodevelopmental delay, Nystagmus, Obtundation status, Personality disorder, Photophobia, Postnatal microcephaly, Pschomotor retardation, Seizures, Status epilepticus, Tremor, Variable expressivity
Astrocyte	MEIS1	1.2652066	0.000695428	Transcription factor	BrainSpLMD|4211;Eurexp|euxassay_010373|cornea, epithelium, hindgut, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, respiratory, sublingual gland primordium, submandibular gland primordium, trachea, ventricular layer, vibrissa;BrainSpMouseDev|17037	OMIM|601739
Astrocyte	RP11.553L6.5	0.4084773	0.00069711			
Astrocyte	OAT	1.344393657	0.000722127	Enzyme: Aminotransferase	BrainSpLMD|4942	OMIM|613349;HPO|4942|Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Blindness, Chorioretinal atrophy, EMG abnormality, Myopia, Nyctalopia, Posterior subcapsular cataract, Proximal muscle weakness
Astrocyte	NOTCH1	0.650937724	0.000752611	Cell surface receptor	BrainSpLMD|4851;Eurexp|euxassay_018738|cochlea, cornea, cortex, epidermis, epithelium, incisor, left lung, molar, olfactory, rest of skin, retina, right lung, submandibular gland primordium, thymus primordium, utricle, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|17895	OMIM|190198;COSMIC||T-ALL, breast, bladder, skin SCC, lung SCC, head and neck SCC;HPO|4851|Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis, Aplasia cutis congenita, Autosomal dominant inheritance, Bicuspid aortic valve, Brachydactyly, Calvarial skull defect, Cataract, Cavernous hemangioma, Coarctation of aorta, Cutis marmorata, Cutis marmorata telangiectatica congenita, Dilatation of the aortic arch, Dystrophic toenail, Failure to thrive, Finger syndactyly, Heart murmur, Hydrocephalus, Hypertension, Microphthalmia, Phenotypic variability, Pulmonary arterial hypertension, Pulmonary artery atresia, Pulmonic stenosis, Right ventricular hypertrophy, Short distal phalanx of finger, Sparse hair, Split hand, Strabismus, Syndactyly, Talipes, Tetralogy of Fallot, Thoracic aorta calcification
Astrocyte	ZBTB20	0.564711849	0.000760999	Transcription factor	BrainSpLMD|26137;BrainSpMouseDev|35770	SFARI||Autism, 3 - Suggestive evidence;OMIM|606025;HPO|26137|Abnormality of the palate, Absent axillary hair, Absent facial hair, Anemia, Anonychia, Autosomal dominant inheritance, Basilar impression, Bilateral cryptorchidism, Bone cyst, Brachycephaly, Broad forehead, Calcification of the auricular cartilage, Cataract, Conductive hearing impairment, Deeply set eye, Developmental regression, Distal amyotrophy, Downslanted palpebral fissures, Downturned corners of mouth, Gait disturbance, Generalized hypotonia, Generalized osteoporosis, Genu valgum, Gynecomastia, Hearing impairment, Hip contracture, Hydrocephalus, Hypogonadism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Increased size of the mandible, Intellectual disability, Irregular vertebral endplates, Knee flexion contracture, Kyphosis, Macrocephaly, Macrotia, Malar flattening, Metatarsus adductus, Midface retrusion, Myopathy, Narrow chest, Narrow iliac wings, Narrow mouth, Neurodegeneration, Osteolysis, Pectus excavatum, Pes cavus, Plagiocephaly, Posterior polar cataract, Posterior scalloping of vertebral bodies, Ptosis, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Sparse scalp hair, Sporadic, Superiorly displaced ears, Synophrys, Thick lower lip vermilion, Truncal obesity
Astrocyte	TMEM170A	0.91767562	0.000762485	Unclassified	BrainSpLMD|124491	
Astrocyte	LPHN3	0.896331419	0.000773448			
Astrocyte	ERAP1	2.266230398	0.000807184	Aminopeptidase	BrainSpLMD|51752;Eurexp|euxassay_002116|thymus primordium	OMIM|606832;HPO|51752|Abdominal pain, Abnormal blistering of the skin, Acne, Arthralgia, Arthritis, Confusion, Fatigue, Fever, Gait disturbance, Gastrointestinal hemorrhage, Hemiparesis, Immunologic hypersensitivity, Meningitis, Migraine, Myalgia, Nausea and vomiting, Oral ulcer, Orchitis, Papule, Photophobia, Recurrent aphthous stomatitis, Subcutaneous nodule, Vasculitis, Venous thrombosis
Astrocyte	SALL2	0.968521171	0.000813552	Transcription factor	BrainSpLMD|6297;BrainSpMouseDev|30014	OMIM|602219;HPO|6297|Autosomal recessive inheritance, Coloboma, Reduced visual acuity, Visual impairment
Astrocyte	FMNL2	0.58957464	0.000822149	Unclassified	BrainSpLMD|114793	OMIM|616285
Astrocyte	TMED10	1.781009447	0.000845917	Integral membrane protein	BrainSpLMD|10972	OMIM|605406
Astrocyte	GCSH	1.461264771	0.000846476	Enzyme: Transferase	Eurexp|euxassay_005077|axial muscle, calyces, mantle layer, olfactory, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|238330;HPO|2653|Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Death in infancy, Encephalopathy, Generalized hypotonia, Hyperactivity, Hyperglycinemia, Hyperglycinuria, Hyperreflexia, Impulsivity, Intellectual disability, Irritability, Lethargy, Myoclonus, Recurrent singultus, Restlessness, Seizures
Astrocyte	TCF7L2	1.109334655	0.000848175	Transcription factor	BrainSpLMD|6934;Eurexp|euxassay_019472|lip, mantle layer, mesenchyme, midgut, pancreas, phalanx, skeletal muscle, sternum, stomach, trachea, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|21177	SFARI||Autism, 3 - Suggestive evidence;OMIM|602228;COSMIC||colorectal
Astrocyte	FAT1	1.178165394	0.00086086	Adhesion molecule	BrainSpLMD|2195;Eurexp|euxassay_013462|axial skeleton, lung, mandible, maxilla, mesenchyme, rest of mesenchyme, sternum, submandibular gland primordium, vibrissa;BrainSpMouseDev|13884	SFARI||Autism, No category;OMIM|600976;COSMIC||oral squamous cell, chemorefractory CLL, head and neck, pancreatic acinar cell carcinoma, pancreatic
Astrocyte	RP11.16F15.2	0.567234918	0.0008717			
Astrocyte	DPM3	0.909057211	0.00088348	Enzyme: Synthase	BrainSpLMD|54344	OMIM|605951;HPO|54344|Autosomal recessive inheritance, Dilated cardiomyopathy, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Increased variability in muscle fiber diameter, Muscle weakness, Rimmed vacuoles, Type I transferrin isoform profile, Waddling gait
Astrocyte	FUT11	0.850706754	0.00090195	Enzyme: Fucosyltransferase		OMIM|616932
Astrocyte	IFT88	0.827827954	0.00090719	Cell cycle control protein	BrainSpLMD|8100	OMIM|600595
Astrocyte	UBL3	1.112727896	0.000937302	Ubiquitin proteasome system protein	BrainSpLMD|5412	OMIM|604711
Astrocyte	SNX5	1.076239301	0.000942238	Transport/cargo protein	BrainSpLMD|27131;Eurexp|euxassay_011463|clavicle, cortex, epithelium, exoccipital bone, floor plate, fundus region, hindgut, incisor, lobe, lung, mandible, marginal layer, maxilla, midgut, molar, naris, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, roof, stomach, submandibular gland primordium, temporal bone, thymus primordium, thyroid, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|605937
Astrocyte	PCCB	1.103351574	0.000979694	Enzyme: Carboxylase	BrainSpLMD|5096	SFARI||Autism, No category;OMIM|232050;HPO|5096|Abnormality of immune system physiology, Acute encephalopathy, Anemia, Apnea, Arrhythmia, Autosomal recessive inheritance, Cardiomyopathy, Cerebral atrophy, Coma, Constipation, Dehydration, Dystonia, Eczema, Failure to thrive, Feeding difficulties in infancy, Global developmental delay, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Hyperglycinuria, Hypoglycemia, Intellectual disability, Lactic acidosis, Lethargy, Limb hypertonia, Metabolic acidosis, Muscular hypotonia of the trunk, Neutropenia, Organic aciduria, Osteoporosis, Pancreatitis, Pancytopenia, Poor appetite, Propionyl-CoA carboxylase deficiency, Seizures, Short stature, Tachypnea, Thrombocytopenia, Vomiting
Astrocyte	C14orf1	0.693826111	0.000985319			
Astrocyte	NEK6	1.237137184	0.001058073	Serine/threonine kinase	BrainSpLMD|10783	OMIM|604884
Astrocyte	PCDH17	0.49527755	0.00106424	Adhesion molecule	BrainSpLMD|27253	OMIM|611760
Astrocyte	PSME2	1.331270652	0.001069083	Ubiquitin proteasome system protein	BrainSpLMD|5721;Eurexp|euxassay_007332|thymus primordium	OMIM|602161
Astrocyte	TXNIP	0.841560041	0.001069237	Cell cycle control protein	BrainSpLMD|10628;Eurexp|euxassay_006657|meninges	OMIM|606599
Astrocyte	VEGFB	0.960597694	0.001124138	Growth factor	BrainSpLMD|7423;BrainSpMouseDev|22097	OMIM|601398
Astrocyte	ACOT2	2.018607723	0.001125524	Enzyme: Hydrolase	BrainSpLMD|10965	OMIM|609972
Astrocyte	JAG1	1.316262808	0.001129133	Cell surface receptor	BrainSpLMD|182;Eurexp|euxassay_015945|aorta, epidermis, extrinsic ocular muscle, intermediate grey horn, lens, mantle layer, metanephros, pharyngo-tympanic tube, pineal primordium, ventricular layer, vestibular component;BrainSpMouseDev|16222	OMIM|601920;HPO|182|Abnormal nasal morphology, Abnormality of the ribs, Areflexia, Atrial septal defect, Autosomal dominant inheritance, Axenfeld anomaly, Band keratopathy, Brachydactyly, Broad forehead, Butterfly vertebral arch, Cataract, Chorioretinal atrophy, Cirrhosis, Clinodactyly of the 5th finger, Coarctation of aorta, Cryptorchidism, Deeply set eye, Depressed nasal bridge, Dolichocephaly, Elevated hepatic transaminases, Exocrine pancreatic insufficiency, Failure to thrive, Hemivertebrae, Hepatocellular carcinoma, Hypercholesterolemia, Hypertelorism, Hypertriglyceridemia, Hypoplasia of the ulna, Incomplete penetrance, Infantile onset, Intrauterine growth retardation, Long nose, Macrotia, Microcornea, Multiple small medullary renal cysts, Myopia, Papillary thyroid carcinoma, Peripheral pulmonary artery stenosis, Pigmentary retinal deposits, Posterior embryotoxon, Preauricular pit, Prolonged neonatal jaundice, Proptosis, Reduced number of intrahepatic bile ducts, Renal dysplasia, Renal hypoplasia, Renal tubular acidosis, Short distal phalanx of finger, Specific learning disability, Strabismus, Stroke, Tetralogy of Fallot, Thin vermilion border, Triangular face, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Vesicoureteral reflux
Astrocyte	SNAP23	1.136399603	0.001132307	Transport/cargo protein	BrainSpLMD|8773;Eurexp|euxassay_005991|embryo	OMIM|602534
Astrocyte	GPM6A	1.047769318	0.001141458	Integral membrane protein	BrainSpLMD|2823;Eurexp|euxassay_005521|brain, diaphragm, epithelium, lip, mesenchyme, mesothelium, neural retina, olfactory, pericardial cavity, spinal cord, stroma	OMIM|601275
Astrocyte	FAM84B	1.670699327	0.00114358	Unclassified	BrainSpLMD|157638;Eurexp|euxassay_012212|choroid plexus, fundus, marginal layer, metanephros, molar, stomach, submandibular gland primordium, vibrissa	OMIM|609483
Astrocyte	SSFA2	1.811579926	0.001205915	Unclassified	BrainSpLMD|6744	OMIM|118990
Astrocyte	PNISR	0.712392857	0.001265185	Unclassified	BrainSpLMD|25957;Eurexp|euxassay_011305|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|616653
Astrocyte	ABCA3	1.114420895	0.001283473	Transport/cargo protein	BrainSpLMD|21;Eurexp|euxassay_009339|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|601615;HPO|21|Alveolar proteinosis, Apnea, Autosomal recessive inheritance, Congenital onset, Desquamative interstitial pneumonitis, Failure to thrive, Heterogeneous, Respiratory distress, Respiratory failure, Tachypnea
Astrocyte	CASC4	0.514535394	0.001294403	Unclassified	BrainSpLMD|113201	SFARI||Autism, 4 - Minimal evidence
Astrocyte	ADI1	0.624594248	0.001305011	Growth inhibitory factor	BrainSpLMD|55256;Eurexp|euxassay_003618|hindgut, incisor, left, midgut, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, rectum, respiratory, right, stomach, submandibular gland primordium, thymus primordium, thyroid, vibrissa	OMIM|613400
Astrocyte	FAM120A	0.757338367	0.001320072	Unclassified	BrainSpLMD|23196	OMIM|612265
Astrocyte	PSAP	0.648109622	0.001329438	Integral membrane protein	BrainSpLMD|5660	OMIM|176801;HPO|5660|Abnormality of eye movement, Abnormality of glycosphingolipid metabolism, Abnormality of the periventricular white matter, Anemia, Autosomal recessive inheritance, Babinski sign, CNS demyelination, Central apnea, Cerebral dysmyelination, Congenital onset, Death in childhood, Death in infancy, Decreased nerve conduction velocity, Developmental regression, Dysarthria, Dysphagia, Dystonia, Erlenmeyer flask deformity of the femurs, Fasciculations, Feeding difficulties, Gait ataxia, Generalized clonic seizures, Generalized hypotonia, Generalized tonic-clonic seizures, Global brain atrophy, Global developmental delay, Hepatomegaly, Hepatosplenomegaly, Hyperkinesis, Hyperreflexia, Hypertonia, Hypoplasia of the corpus callosum, Hyporeflexia, Increased CSF protein, Increased cerebral lipofuscin, Infantile onset, Loss of speech, Mental deterioration, Muscle weakness, Muscular hypotonia, Myoclonus, Neuronal loss in central nervous system, Osteopenia, Peripheral demyelination, Polyneuropathy, Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Seizures, Spastic tetraparesis, Splenomegaly, Thrombocytopenia, Urinary incontinence, Variable expressivity
Astrocyte	CLDND1	0.984426083	0.001338936	Unclassified	BrainSpLMD|56650;Eurexp|euxassay_006238|embryo	
Astrocyte	ZNF236	0.976319368	0.0013591	Transcription regulatory protein	BrainSpLMD|7776	OMIM|604760
Astrocyte	SAMD8	1.133641678	0.001399341	Integral membrane protein	BrainSpLMD|142891	OMIM|611575
Astrocyte	DLC1	1.25197804	0.001405623	GTPase activating protein	BrainSpLMD|10395;Eurexp|euxassay_013403|axial skeleton, mandible, mantle layer, roof plate, trigeminal V, ventricular layer	OMIM|604258;HPO|10395|Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma
Astrocyte	HIPK2	1.071311228	0.001436373	Serine/threonine kinase	BrainSpLMD|28996	OMIM|606868
Astrocyte	CYP51A1P1	0.661071797	0.001486352			
Astrocyte	CTD.2282P23.2	0.876242003	0.001491359			
Astrocyte	HSPA1A	0.513240813	0.001614244	Chaperone	BrainSpLMD|3303;Eurexp|euxassay_005687|adrenal gland, testis, vibrissa	OMIM|140550
Astrocyte	POLR2L	0.376347538	0.001663587	RNA polymerase	BrainSpLMD|5441;Eurexp|euxassay_019574|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, liver, lung, midgut, nucleus pulposus, oesophagus, pancreas, stomach, submandibular gland primordium, testis, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|601189
Astrocyte	LDLRAD3	1.404569265	0.001721818	Unclassified	BrainSpLMD|143458;Eurexp|euxassay_011393|dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, stomach, trigeminal V, vagus X, vestibulocochlear VIII	
Astrocyte	ZNF521	0.672915234	0.001730575	Transcription regulatory protein	BrainSpLMD|25925;BrainSpMouseDev|86218	OMIM|610974;COSMIC||ALL
Astrocyte	ABHD4	1.569309331	0.001753567	Unclassified	BrainSpLMD|63874;Eurexp|euxassay_001761|dorsal root ganglion, marginal layer, trigeminal V, ventricular layer;BrainSpMouseDev|69666	
Astrocyte	ALDH5A1	2.025339141	0.001795045	Enzyme: Dehydrogenase	BrainSpLMD|7915	SFARI||Autism, No category;OMIM|610045;HPO|7915|Abnormality of eye movement, Abnormality of metabolism/homeostasis, Absence seizures, Aggressive behavior, Anxiety, Ataxia, Autism, Autosomal recessive inheritance, Behavioral abnormality, Delayed speech and language development, EEG abnormality, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Hallucinations, Hyperactivity, Hyperkinesis, Hyporeflexia, Infantile onset, Intellectual disability, Motor delay, Muscular hypotonia, Phenotypic variability, Psychosis, Self-injurious behavior, Status epilepticus
Astrocyte	MRFAP1	0.379141117	0.001796689	Adapter molecule	BrainSpLMD|93621	OMIM|616905
Astrocyte	SPATS2L	1.277069783	0.001804022	Unclassified	BrainSpLMD|26010;Eurexp|euxassay_013635|bladder, exoccipital bone, mantle layer, mesenchyme, oesophagus, orbito-sphenoid, penis, pharyngo-tympanic tube, tongue, turbinate, vertebral axis muscle system, vibrissa	OMIM|613817
Astrocyte	PTPRA	0.805968521	0.001810981	Receptor tyrosine phosphatase	BrainSpLMD|5786;Eurexp|euxassay_007474|embryo	OMIM|176884
Astrocyte	AC240274.1	0.474877025	0.001819987			
Astrocyte	SLC48A1	1.397108124	0.001832889	Transport/cargo protein	BrainSpLMD|55652	OMIM|612187
Astrocyte	MT.CYB	0.400790188	0.001856114			
Astrocyte	TOMM7	0.916545832	0.001872812	Transport/cargo protein	BrainSpLMD|54543	OMIM|607980
Astrocyte	NEK1	0.965461593	0.00189165	Serine/threonine kinase	BrainSpLMD|4750;Eurexp|euxassay_014225|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, ventral grey horn	OMIM|604588;HPO|4750|Ambiguous genitalia, Amyotrophic lateral sclerosis, Anxiety, Autosomal recessive inheritance, Cleft palate, Depressivity, Digenic inheritance, Disproportionate shortening of the tibia, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Hamartoma of tongue, Horizontal ribs, Hydrops fetalis, Hypoplasia of the epiglottis, Lateral clavicle hook, Median cleft lip, Muscle cramps, Narrow chest, Neurodegeneration, Pain, Paralysis, Polycystic kidney dysplasia, Polysyndactyly of hallux, Postaxial hand polydactyly, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Pulmonary hypoplasia, Respiratory failure, Short ribs, Skeletal muscle atrophy, Spasticity, Thoracic dysplasia, Xerostomia
Astrocyte	MED13	0.887455511	0.001918794	Transcription regulatory protein	BrainSpLMD|9969;Eurexp|euxassay_014011|submandibular gland primordium	SFARI||Autism, 2 - Strong candidate;OMIM|603808
Astrocyte	BBS2	0.594215398	0.001923447	Unclassified	BrainSpLMD|583	OMIM|606151;HPO|583|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, External genital hypoplasia, Glaucoma, Global developmental delay, Hyperinsulinemia, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Keratoconus, Multicystic kidney dysplasia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Pigmentary retinopathy, Postaxial hand polydactyly, Posterior polar cataract, Progressive night blindness, Retinal degeneration, Rod-cone dystrophy, Sensorineural hearing impairment, Short stature, Wide nasal bridge
Astrocyte	ABI1	0.853630502	0.002035831	Adapter molecule	BrainSpLMD|10006	OMIM|603050;COSMIC||AML
Astrocyte	MLEC	0.390771255	0.002091877	Unclassified	BrainSpLMD|9761;Eurexp|euxassay_016414|clavicle, lung, mandible, maxilla, orbito-sphenoid, submandibular gland primordium, temporal bone, turbinate	OMIM|613802
Astrocyte	COL11A1	0.297996603	0.002094171	Extracellular matrix protein	BrainSpLMD|1301;Eurexp|euxassay_004200|axial skeleton, clavicle, cranium, femur, fibula, footplate, handplate, humerus, hyoid bone, mandible, nasal septum, otic capsule, palatal shelf, pelvic girdle, radius, rib, sternum, tibia, turbinate bones, ulna;BrainSpMouseDev|12597	OMIM|120280;HPO|1301|Abnormal diaphysis morphology, Abnormal form of the vertebral bodies, Abnormality of the dentition, Abnormality of the metaphysis, Abnormality of the pinna, Abnormality of the vitreous humor, Absent frontal sinuses, Amblyopia, Anterior rib cupping, Anteverted nares, Arachnodactyly, Arthralgia, Arthropathy, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bifid uvula, Brachycephaly, Brachydactyly, Broad ischia, Broad long bones, Broad ribs, Calcification of falx cerebri, Camptodactyly, Cataract, Cerebral calcification, Cleft palate, Clinodactyly of the 5th finger, Congenital cataract, Corneal opacity, Coxa valga, Depressed nasal bridge, Downslanted palpebral fissures, Dumbbell-shaped long bone, Ectopia lentis, Epicanthus, Epiphyseal dysplasia, Esotropia, Femoral bowing, Fibular hypoplasia, Flat face, Frontal bossing, Genu valgum, Glaucoma, Glossoptosis, Hearing abnormality, Hydrops fetalis, Hypertelorism, Hypohidrosis, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hypoplastic fingernail, Hypoplastic frontal sinuses, Hypoplastic ilia, Hypoplastic ischia, Hypoplastic scapulae, Hypoplastic toenails, Hypotrichosis, Irregular distal femoral epiphysis, Irregular proximal tibial epiphyses, Irregular vertebral endplates, Joint contracture of the hand, Joint hyperflexibility, Joint hypermobility, Lens luxation, Long clavicles, Long fingers, Long philtrum, Low-set ears, Macrodontia of permanent maxillary central incisor, Malar flattening, Megalocornea, Meningeal calcification, Micrognathia, Micromelia, Midface retrusion, Myopia, Narrow chest, Narrow greater sacrosciatic notches, Narrow mouth, Omphalocele, Osteoarthritis, Patent foramen ovale, Pierre-Robin sequence, Platyspondyly, Posterior rib cupping, Posterior vertebral hypoplasia, Premature birth, Proptosis, Protuberant abdomen, Radial bowing, Respiratory insufficiency, Retinal detachment, Retinopathy, Rhizomelia, Round face, Sensorineural hearing impairment, Severe Myopia, Short femur, Short foot, Short long bone, Short neck, Short nose, Short palm, Short ribs, Short stature, Small distal femoral epiphysis, Small hand, Small proximal tibial epiphyses, Spondyloepiphyseal dysplasia, Stillbirth, Thick lower lip vermilion, Thick upper lip vermilion, Thickened calvaria, Thin clavicles, Thin ribs, Thoracic hypoplasia, Ulnar bowing, Upper airway obstruction, Visual impairment, Vitreoretinal degeneration, Wide anterior fontanel, Wide nasal bridge, Wide tufts of distal phalanges, Widely patent coronal suture, Widely patent sagittal suture
Astrocyte	LPIN2	0.877657643	0.002118516	Unclassified	BrainSpLMD|9663	OMIM|605519;HPO|9663|Abnormality of bone marrow cell morphology, Acne, Arthralgia, Autosomal recessive inheritance, Bone pain, Cachexia, Chronic recurrent multifocal osteomyelitis, Congenital hypoplastic anemia, Edema, Failure to thrive, Fever, Flexion contracture, Growth delay, Headache, Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Inflammatory abnormality of the skin, Leukocytosis, Metaphyseal irregularity, Myalgia, Osteomyelitis, Papule, Pustule, Splenomegaly, Synovitis
Astrocyte	KIAA1033	0.278605821	0.002155669			
Astrocyte	CXXC5	0.587993983	0.002190772	DNA binding protein	BrainSpLMD|51523	OMIM|612752
Astrocyte	IFNAR1	0.850394479	0.002198891	Cytokine receptor	BrainSpLMD|3454;Eurexp|euxassay_010150|left, right	OMIM|107450
Astrocyte	COL6A1	0.282229039	0.002204437	Extracellular matrix protein	BrainSpLMD|1291;BrainSpMouseDev|12616	OMIM|120220;HPO|1291|Abnormality of the cardiovascular system, Abnormality of the palate, Adducted thumb, Ankle contracture, Autosomal dominant inheritance, Autosomal recessive inheritance, Cachexia, Camptodactyly of finger, Congenital muscular dystrophy, Congenital muscular torticollis, Decreased fetal movement, Diaphragmatic weakness, Distal muscle weakness, EMG abnormality, EMG: myopathic abnormalities, Elbow flexion contracture, Elevated serum creatine phosphokinase, Esotropia, Facial palsy, Failure to thrive, Feeding difficulties in infancy, Flexion contracture, Follicular hyperkeratosis, Frequent falls, Generalized amyotrophy, Generalized hypotonia, Generalized muscle weakness, High palate, Hip dislocation, Hyperextensibility at wrists, Hyperhidrosis, Increased endomysial connective tissue, Increased laxity of ankles, Increased laxity of fingers, Increased variability in muscle fiber diameter, Infantile onset, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphosis, Limb-girdle muscle weakness, Long toe, Micrognathia, Mildly elevated creatine phosphokinase, Motor delay, Muscle fiber necrosis, Myopathy, Neonatal hypotonia, Nocturnal hypoventilation, Pes valgus, Progressive, Protruding ear, Proximal muscle weakness, Recurrent lower respiratory tract infections, Respiratory failure, Respiratory insufficiency due to muscle weakness, Round face, Scoliosis, Short neck, Skeletal muscle atrophy, Slender build, Slender finger, Slow progression, Spinal rigidity, Talipes equinovarus, Torticollis, Type 1 muscle fiber predominance, Variable expressivity
Astrocyte	TIMP2	1.095932131	0.002208582	Extracellular matrix protein	BrainSpLMD|7077	OMIM|188825
Astrocyte	PARP14	1.85742584	0.002219805	Unclassified	BrainSpLMD|54625	OMIM|610028
Astrocyte	ADAMTS6	0.6160588	0.002233616	Metallo protease	BrainSpLMD|11174	OMIM|605008
Astrocyte	ZDHHC21	0.81801932	0.002238544	Integral membrane protein	BrainSpLMD|340481	OMIM|614605
Astrocyte	FERMT2	0.853816527	0.002260977	Cytoskeletal protein	BrainSpLMD|10979;Eurexp|euxassay_012610|hindgut, metanephros, midgut, stomach, ventricular layer, wall	OMIM|607746
Astrocyte	GSTM2	1.128020021	0.002267355	Enzyme: Glutathione transferase	BrainSpLMD|2946;Eurexp|euxassay_010417|mantle layer, olfactory, renal/urinary system, testis	OMIM|138380
Astrocyte	ITGAV	1.015766584	0.002278582	Cell surface receptor	BrainSpLMD|3685;Eurexp|euxassay_009584|brain, calyces, incisor, mandible, maxilla, mesenchyme, midgut, molar, spinal cord, stomach, submandibular gland primordium, ventricular layer;BrainSpMouseDev|16183	OMIM|193210;COSMIC||large intestine carcinoma
Astrocyte	LARS	0.378601165	0.00232219	Enzyme: Ligase	BrainSpLMD|51520;Eurexp|euxassay_012121|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, tibia, turbinate bones	OMIM|151350;HPO|51520|Abnormality of the coagulation cascade, Acute hepatic failure, Anemia, Autosomal recessive inheritance, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hepatomegaly, Lactic acidosis, Macrocytic anemia, Microcephaly, Seizures
Astrocyte	TNFRSF19	1.258019328	0.00234757	Cell surface receptor	BrainSpLMD|55504;Eurexp|euxassay_000124|associated mesenchyme, cartilage condensation, cerebral cortex, epithelium, facial bones primordia, frontal bone primordium, heart, incisor, lung, main bronchus, mandible, maxilla, mesenchyme, optic foramen, palatal shelf, perioptic mesenchyme, premaxilla, primary palate, skeletal muscle, skeleton, spleen primordium, submandibular gland primordium, vibrissa	OMIM|606122
Astrocyte	MLLT6	0.795803058	0.002369352	Transcription regulatory protein	BrainSpLMD|4302	OMIM|600328;COSMIC||AL
Astrocyte	CLNS1A	1.15263116	0.002466715	Transport/cargo protein	BrainSpLMD|1207	OMIM|602158
Astrocyte	ATF7	1.403651815	0.002475231	Transcription factor	BrainSpLMD|11016	OMIM|606371
Astrocyte	DGKH	1.501286142	0.00248879	Lipid Kinase	BrainSpLMD|160851;Eurexp|euxassay_009546|dorsal root ganglion, glossopharyngeal IX, neural retina, trigeminal V, vagus X	OMIM|604071
Astrocyte	GRIA4	0.467235247	0.002495142	Extracellular ligand gated channel	BrainSpLMD|2893;Eurexp|euxassay_006297|bladder, brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, ductus deferens, facial VII, incisor, loop, medulla, metanephros, molar, neural retina, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|14578	OMIM|138246
Astrocyte	FOS	0.492511011	0.002532656	Transcription factor	BrainSpLMD|2353;Eurexp|euxassay_012634|mandible, maxilla;BrainSpMouseDev|14058	OMIM|164810;HPO|2353|Abnormality of skin pigmentation, Acanthosis nigricans, Accelerated skeletal maturation, Bone cyst, Broad foot, Diabetes mellitus, Generalized hirsutism, Growth hormone excess, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hyperinsulinemia, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Insulin resistance, Intellectual disability, Large hands, Lipoatrophy, Mandibular prognathia, Precocious puberty, Prominent supraorbital ridges, Skeletal muscle hypertrophy
Astrocyte	AGPAT3	0.789738168	0.002556593	Enzyme: Acyltransferase	BrainSpLMD|56894	OMIM|614794
Astrocyte	TMEM66	0.538227838	0.002557276			
Astrocyte	SRGAP2B	0.945567042	0.002584612			OMIM|614703
Astrocyte	RNPC3	0.621404405	0.002588711	RNA binding protein	BrainSpLMD|55599;Eurexp|euxassay_013667|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vomeronasal organ	
Astrocyte	OGFRL1	1.424436071	0.002651912	Unclassified	BrainSpLMD|79627;Eurexp|euxassay_010875|dorsal root ganglion, mantle layer, trigeminal V	
Astrocyte	MAPK1	0.605347287	0.002728362	Serine/threonine kinase	BrainSpLMD|5594	SFARI||Autism, 5 - Hypothesized but untested;OMIM|176948;COSMIC||CLL, ovarian mixed germ cell tumour, cervical carcinoma;HPO|5594|Abnormality of earlobe, Absent fingernail, Absent toenail, Clinodactyly of the 5th finger, Deeply set eye, Global developmental delay, Highly arched eyebrow, Intellectual disability, Intrauterine growth retardation, Language impairment, Microcephaly, Neoplasm, Pes planus, Pointed chin, Premature birth, Short stature, Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Underdeveloped nasal alae
Astrocyte	SEMA6A	0.764088668	0.002756552	Integral membrane protein	BrainSpLMD|57556;Eurexp|euxassay_011666|axial skeleton, clavicle, cochlea, mandible, mantle layer, marginal layer, maxilla, meninges, mesenchyme, metanephros, neural retina, palatal shelf, skeletal muscle, submandibular gland primordium, thyroid, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|20121	OMIM|605885
Astrocyte	MEST	0.52986408	0.002765606	Enzyme: Hydrolase	BrainSpLMD|4232;Eurexp|euxassay_003445|atrium, ventricle;BrainSpMouseDev|17063	OMIM|601029
Astrocyte	HNRNPA2B1	0.286548415	0.002793718	Ribonucleoprotein;RNA binding protein	BrainSpLMD|3181	OMIM|600124;COSMIC||prostate;HPO|3181|Abnormality of the skeletal system, Behavioral abnormality, Centrally nucleated skeletal muscle fibers, Elevated serum creatine phosphokinase, Frontotemporal dementia, Muscle fiber atrophy, Muscular dystrophy, Myopathy, Myositis, Skeletal muscle atrophy
Astrocyte	LAP3	0.775842385	0.002835226	Aminopeptidase	BrainSpLMD|51056;Eurexp|euxassay_002166|ventricular layer	OMIM|170250
Astrocyte	ATP9B	1.726990549	0.002843992	ATPase	BrainSpLMD|374868	OMIM|614446
Astrocyte	THG1L	1.440543437	0.002873832	Cell cycle control protein	BrainSpLMD|54974	
Astrocyte	RNF216P1	0.775006187	0.00293369		BrainSpLMD|441191	
Astrocyte	PDIA3P1	1.521096829	0.002936753			
Astrocyte	NDUFB5	0.421259476	0.003024611	Enzyme: Oxidoreductase	BrainSpLMD|4711	OMIM|603841
Astrocyte	HEATR5A	0.943790488	0.003058925	Unclassified	BrainSpLMD|25938;Eurexp|euxassay_011074|glossopharyngeal IX, mantle layer, neural retina, trigeminal V, ventricle	
Astrocyte	STK17A	1.177054625	0.003328244	Serine/threonine kinase	BrainSpLMD|9263	OMIM|604726
Astrocyte	MCCC2	1.024979603	0.003375796	Enzyme: Carboxylase	BrainSpLMD|64087	OMIM|609014;HPO|64087|Abnormality of leucine metabolism, Abnormality of movement, Acute hyperammonemia, Alopecia, Autosomal recessive inheritance, Coma, Failure to thrive, Failure to thrive in infancy, Feeding difficulties, Generalized hypotonia, Global developmental delay, Heterogeneous, Hyperammonemia, Hyperglycinuria, Hyperreflexia, Hypoglycemia, Intellectual disability, Ketoacidosis, Lethargy, Metabolic acidosis, Muscular hypotonia, Opisthotonus, Organic aciduria, Phenotypic variability, Propionyl-CoA carboxylase deficiency, Seborrheic dermatitis, Seizures, Skeletal muscle atrophy, Vomiting
Astrocyte	PLOD2	1.594835911	0.003397345	Enzyme: Hydroxylase	BrainSpLMD|5352;Eurexp|euxassay_008722|axial skeleton, basisphenoid bone, clavicle, exoccipital bone, mesenchyme, nasal septum, otic capsule, petrous part, rib, sternum, tongue, trachea, turbinate	OMIM|601865;HPO|5352|Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Elbow flexion contracture, Femoral bowing, Flexion contracture, Hydroxyprolinuria, Increased susceptibility to fractures, Inguinal hernia, Joint stiffness, Knee flexion contracture, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes equinovarus, Triangular face, Wormian bones
Astrocyte	RAB13	1.07440887	0.003416264	GTPase	Eurexp|euxassay_003494|meninges, metencephalon, olfactory lobe	OMIM|602672
Astrocyte	RP11.15A1.3	1.137864051	0.003503844			
Astrocyte	PRKD1	0.797203102	0.003511946	Serine/threonine kinase	BrainSpLMD|5587	SFARI||Autism, No category;OMIM|605435;HPO|5587|Autosomal dominant inheritance, Broad thumb, Delayed speech and language development, Depressed nasal bridge, Dry skin, Feeding difficulties, Fragile nails, Generalized hypotonia, Global developmental delay, Microcephaly, Microdontia, Nystagmus, Premature loss of primary teeth, Prominent forehead, Prominent nasal bridge, Scoliosis, Sparse scalp hair, Syndactyly, Thin skin, Widely spaced teeth
Astrocyte	NDRG4	0.382391302	0.003521788	Enzyme: Hydrolase;Cell cycle control protein	BrainSpLMD|65009;Eurexp|euxassay_015917|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, mantle layer, neural retina, trigeminal V, ventral grey horn, vestibulocochlear VIII	OMIM|614463
Astrocyte	TMEM9B	1.545148263	0.003598065	Integral membrane protein	BrainSpLMD|56674	
Astrocyte	VPS36	1.337166054	0.003627039	Unclassified	BrainSpLMD|51028	OMIM|610903
Astrocyte	DPP8	0.816659004	0.003632628	Aminopeptidase	BrainSpLMD|54878	OMIM|606819
Astrocyte	TEAD1	0.656426156	0.003638161	Transcription factor	BrainSpLMD|7003;BrainSpMouseDev|21437	OMIM|189967;HPO|7003|Astigmatism, Autosomal dominant inheritance, Myopia, Peripapillary chorioretinal atrophy, Slow progression
Astrocyte	NRBP2	2.208325525	0.003657295	Unclassified	BrainSpLMD|340371	OMIM|615563
Astrocyte	GSTM4	0.515835233	0.003667902	Enzyme: Glutathione transferase	BrainSpLMD|2948;Eurexp|euxassay_018671|olfactory, testis	OMIM|138333
Astrocyte	PRDX1	0.513070796	0.003673202	Enzyme: Peroxidase	BrainSpLMD|5052	OMIM|176763
Astrocyte	FJX1	1.108698437	0.003683603	Unclassified	BrainSpLMD|24147	OMIM|612206
Astrocyte	ZNF678	0.430224904	0.003776925	Unclassified	BrainSpLMD|339500	
Astrocyte	PTCH1	0.714439455	0.003807035	Cell surface receptor	Eurexp|euxassay_017091|axial skeleton, basioccipital bone, basisphenoid bone, bladder, clavicle, ductus deferens, femur, fibula, hindgut, humerus, incisor, lung, mandible, maxilla, mesenchyme, midgut, oesophagus, pelvic girdle, phalanx, radius, rib, scapula, skeleton, stomach, tibia, ulna, urethra, ventricular layer, vibrissa;BrainSpMouseDev|18969	OMIM|601309;COSMIC||skin basal cell, medulloblastoma, skin basal cell, medulloblastoma;HPO|5727|Abnormality of the neck, Abnormality of the ribs, Abnormality of the sternum, Absent nasal septal cartilage, Accelerated skeletal maturation, Agenesis of corpus callosum, Alobar holoprosencephaly, Arnold-Chiari malformation, Autosomal dominant inheritance, Basal cell carcinoma, Bifid ribs, Bilateral cleft lip and palate, Bilateral microphthalmos, Brachydactyly, Bridged sella turcica, Broad face, Calcification of falx cerebri, Cardiac fibroma, Cardiac rhabdomyoma, Cataract, Cerebral calcification, Cleft palate, Cleft upper lip, Coarse facial features, Delayed eruption of teeth, Down-sloping shoulders, Downslanted palpebral fissures, Epicanthus, Feeding difficulties, Flat nasal alae, Flat occiput, Frontal bossing, Fusion of the left and right thalami, Glaucoma, Global developmental delay, Hamartomatous stomach polyps, Hemivertebrae, Heterogeneous, Hydrocephalus, Hyperactivity, Hypertelorism, Hypoplasia of the premaxilla, Hypotelorism, Incomplete penetrance, Intellectual disability, Iris coloboma, Irregular ossification of hand bones, Joint hyperflexibility, Kyphoscoliosis, Kyphosis, Large for gestational age, Long philtrum, Low-set ears, Macrocephaly, Macrotia, Mandibular prognathia, Median cleft lip and palate, Medulloblastoma, Melanocytic nevus, Metopic synostosis, Microphthalmia, Midface retrusion, Midline defect of the nose, Milia, Motor delay, Muscular hypotonia, Narrow mouth, Neoplasm, Odontogenic keratocysts of the jaw, Oral cleft, Orbital cyst, Ovarian carcinoma, Ovarian fibroma, Palmar pits, Panhypopituitarism, Parietal bossing, Pectus excavatum, Plantar pits, Polydactyly, Retinopathy, Scoliosis, Seizures, Semilobar holoprosencephaly, Short 4th metacarpal, Short distal phalanx of the thumb, Short neck, Short nose, Short ribs, Single median maxillary incisor, Skin tags, Spina bifida, Sprengel anomaly, Strabismus, Supernumerary ribs, Tall stature, Thickened ears, Trigonocephaly, Umbilical hernia, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vertebral fusion, Vertebral wedging, Wide nasal bridge
Astrocyte	IDI1	1.389488347	0.003879261	Enzyme: Isomerase	BrainSpLMD|3422;Eurexp|euxassay_011601|adrenal gland, cervical, cervico-thoracic, clavicle, cortex, dorsal root ganglion, glossopharyngeal IX, hindgut, incisor, lobe, mandible, mantle layer, maxilla, midgut, molar, neural retina, olfactory, orbito-sphenoid, pancreas, rectum, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ	OMIM|604055
Astrocyte	SCCPDH	1.309878632	0.003950794	Unclassified	BrainSpLMD|51097;BrainSpMouseDev|73391	
Astrocyte	SELK	0.723000566	0.003996298			
Astrocyte	MCFD2	0.9331704	0.004085556	Unclassified	BrainSpLMD|90411;Eurexp|euxassay_000692|Meckel's cartilage, chondrocranium, incisor, molar	OMIM|607788;HPO|90411|Autosomal recessive inheritance, Epistaxis, Menorrhagia, Persistent bleeding after trauma, Reduced factor V activity, Reduced factor VIII activity
Astrocyte	METTL8	0.956129002	0.004104408	Unclassified	BrainSpLMD|79828;Eurexp|euxassay_004455|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|609525
Astrocyte	PTPRD	0.521417317	0.004410737	Receptor tyrosine phosphatase	BrainSpLMD|5789	OMIM|601598
Astrocyte	WWC2	1.050630502	0.004450649	Unclassified	BrainSpLMD|80014	
Astrocyte	CTNNB1	0.404099128	0.004610297	Adhesion molecule	BrainSpLMD|1499;BrainSpMouseDev|12172	SFARI||Autism, 3 - Suggestive evidence;OMIM|116806;COSMIC||colorectal, ovarian, hepatoblastoma, pleomorphic salivary gland adenoma, other tumour types;HPO|1499|Abdominal pain, Abnormal hypothalamus morphology, Abnormal visual field test, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Autosomal dominant inheritance, Autosomal recessive inheritance, Bitemporal hemianopia, Breast carcinoma, Central adrenal insufficiency, Central diabetes insipidus, Cerebral calcification, Desmoid tumors, Dysgerminoma, Elevated alpha-fetoprotein, Enlarged pituitary gland, Epigastric pain, Excessive daytime somnolence, Fatigue, Generalized hypotonia, Global developmental delay, Headache, Hepatic fibrosis, Hepatic necrosis, Hepatocellular carcinoma, Hepatomegaly, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hypogonadotrophic hypogonadism, Hypoplasia of the corpus callosum, Incomplete penetrance, Infantile onset, Intellectual disability, Intestinal polyposis, Intracranial cystic lesion, Long philtrum, Malabsorption, Medulloblastoma, Microcephaly, Micronodular cirrhosis, Myalgia, Nausea and vomiting, Neoplasm of the anterior pituitary, Neoplasm of the stomach, Neurological speech impairment, Obesity, Ovarian papillary adenocarcinoma, Papilledema, Pilomatrixoma, Pituitary hypothyroidism, Portal vein thrombosis, Progressive visual field defects, Prolactin excess, Renal cell carcinoma, Slow decrease in visual acuity, Somatic mutation, Spastic diplegia, Strabismus, Subacute progressive viral hepatitis, Subcutaneous nodule, Thin upper lip vermilion, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Vomiting
Astrocyte	PSENEN	0.774942062	0.00462485	Integral membrane protein	BrainSpMouseDev|42183	OMIM|607632;HPO|55851|Acne inversa, Autosomal dominant inheritance, Chronic furunculosis, Perifolliculitis, Recurrent cutaneous abscess formation
Astrocyte	LRRN3	0.32912954	0.004746677	Integral membrane protein	BrainSpLMD|54674;Eurexp|euxassay_015911|cervical, cervico-thoracic, ear, facial VII, glossopharyngeal IX, lip, mantle layer, marginal layer, medulla, neural retina, olfactory, pituitary, stomach, thoracic, trachea, trigeminal V, ventral grey horn, vestibular component, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16751	
Astrocyte	SRPK2	0.328325453	0.004906663	Serine/threonine kinase	BrainSpLMD|6733;Eurexp|euxassay_018943|brain, glossopharyngeal IX, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20579	OMIM|602980
Astrocyte	RHBDD2	0.761266063	0.004932475	Integral membrane protein	BrainSpLMD|57414	OMIM|615203
Astrocyte	JUN	0.93644985	0.004933028	Transcription factor	BrainSpLMD|3725;Eurexp|euxassay_017995|mantle layer, metacarpus, metatarsus, olfactory, phalanx, ventral grey horn, ventricular layer;BrainSpMouseDev|16249	OMIM|165160;COSMIC||sarcoma
Astrocyte	PEX2	1.351619626	0.004999233	Integral membrane protein	BrainSpLMD|5828;Eurexp|euxassay_006584|embryo	OMIM|170993;HPO|5828|Abnormal heart morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the helix, Abnormality of the liver, Abnormality of the palate, Anteverted nares, Areflexia, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, Brushfield spots, Camptodactyly, Cataract, Cerebellar atrophy, Chorioretinal abnormality, Cleft palate, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Cubitus valgus, Death in infancy, Decreased liver function, Depressed nasal bridge, Developmental regression, Difficulty running, Dolichocephaly, Dysarthria, Dysmetria, EEG abnormality, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Generalized neonatal hypotonia, Global developmental delay, Hepatic failure, Hepatomegaly, Hepatosplenomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypertelorism, Hyporeflexia, Hypospadias, Intellectual disability, Intrahepatic biliary dysgenesis, Intrauterine growth retardation, Jaundice, Large fontanelles, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrogyria, Malabsorption, Metatarsus adductus, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Muscular hypotonia, Neonatal hypotonia, Nyctalopia, Nystagmus, Oculomotor apraxia, Opacification of the corneal stroma, Optic atrophy, Optic nerve dysplasia, Palpebral edema, Pigmentary retinopathy, Polymicrogyria, Poor suck, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Renal cortical microcysts, Renal cyst, Respiratory insufficiency, Rod-cone dystrophy, Round face, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Single transverse palmar crease, Skeletal dysplasia, Slow progression, Slow saccadic eye movements, Spasticity, Splenomegaly, Stippled chondral calcification, Strabismus, Talipes equinovarus, Tremor, Underdeveloped supraorbital ridges, Unsteady gait, Upslanted palpebral fissure, Variable expressivity, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
Astrocyte	PSMD10	0.869243291	0.005068972	Regulatory/other subunit	BrainSpLMD|5716	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300880
Astrocyte	MYO1E	2.270067469	0.005367506	Motor protein	BrainSpLMD|4643	OMIM|601479;HPO|4643|Autosomal recessive inheritance, Chronic kidney disease, Edema, Focal segmental glomerulosclerosis, Hematuria, Hypoalbuminemia, Nephrotic syndrome, Progressive, Proteinuria, Tubular atrophy
Astrocyte	CYR61	0.509788453	0.005422291	Extracellular matrix protein	BrainSpLMD|3491;BrainSpMouseDev|15780	OMIM|602369
Astrocyte	MRPS5	0.523998119	0.005749801	RNA binding protein	BrainSpLMD|64969	OMIM|611972
Astrocyte	EMX2	1.563486219	0.005775037	Transcription factor	BrainSpLMD|2018;Eurexp|euxassay_019479|eyelid, lip, mantle layer, metanephros, olfactory, paramesonephric duct, phalanx, saccule, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|13575	OMIM|600035;HPO|2018|Schizencephaly
Astrocyte	PNPT1	0.487214913	0.005809567	RNA exonuclease	BrainSpLMD|87178	OMIM|610316;HPO|87178|Absent speech, Autosomal recessive inheritance, Choreoathetosis, Decreased nerve conduction velocity, Dyskinesia, Dystonia, Growth delay, Hearing impairment, Hyporeflexia, Severe muscular hypotonia, Skeletal muscle atrophy
Astrocyte	CREM	0.545425067	0.005811986	Transcription factor	BrainSpLMD|1390	OMIM|123812
Astrocyte	GAREML	1.196786449	0.005882018			
Astrocyte	PURB	1.153714026	0.006173264	Transcription regulatory protein	BrainSpLMD|5814	OMIM|608887
Astrocyte	PLXNC1	1.033285115	0.006186673	Integral membrane protein	BrainSpLMD|10154;BrainSpMouseDev|34001	OMIM|604259
Astrocyte	SERPINH1	0.699567268	0.006218042	Heat shock protein	BrainSpLMD|871	OMIM|600943;HPO|871|Autosomal recessive inheritance, Blue sclerae, Broad ribs, Chronic lung disease, Dentinogenesis imperfecta, Generalized hypotonia, Generalized joint laxity, Genu valgum, High forehead, High pitched voice, Inguinal hernia, Joint laxity, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Narrow chest, Narrow forehead, Nephrolithiasis, Osteopenia, Platyspondyly, Prominent forehead, Pyloric stenosis, Relative macrocephaly, Scoliosis, Shallow orbits, Short stature, Thin ribs, Triangular face, Vertebral compression fractures
Astrocyte	SYPL1	0.730823836	0.006224225	Integral membrane protein	BrainSpLMD|6856;Eurexp|euxassay_005903|embryo	OMIM|616665
Astrocyte	PRTFDC1	0.439347022	0.006265576	Unclassified	BrainSpLMD|56952	OMIM|610751
Astrocyte	CHKA	1.112919038	0.006359733	Lipid Kinase	BrainSpLMD|1119	OMIM|118491
Astrocyte	SMC5	0.523865305	0.006391022	Unclassified	BrainSpLMD|23137	OMIM|609386
Astrocyte	AHCYL1	0.963653798	0.006415653	Enzyme: Hydrolase	BrainSpLMD|10768	OMIM|607826
Astrocyte	ZNF639	0.840611244	0.006443805	Unclassified	BrainSpLMD|51193	
Astrocyte	COG2	0.804014281	0.006484808	Structural protein	BrainSpLMD|22796	OMIM|606974;HPO|22796|Autosomal recessive inheritance, Decreased liver function, Decreased serum ceruloplasmin, Diffuse cerebral atrophy, Elevated hepatic transaminases, Generalized tonic seizures, Global developmental delay, Hepatosplenomegaly, Hypocupremia, Hypoplasia of the corpus callosum, Infantile onset, Postnatal microcephaly, Seizures, Small pituitary gland, Spastic tetraplegia
Astrocyte	TOB2	0.621685533	0.00658701	Cell cycle control protein	BrainSpLMD|10766;Eurexp|euxassay_002023|Meckel's cartilage, orbito-sphenoid	OMIM|607396
Astrocyte	MT.ND4	0.609594785	0.006624411			
Astrocyte	MAGI2.AS3	1.315121907	0.006730287			
Astrocyte	IFI27L1	0.977277609	0.006745326	Integral membrane protein	BrainSpLMD|122509	OMIM|611320
Astrocyte	ADCYAP1R1	1.656334733	0.006783389	G protein coupled receptor	BrainSpLMD|117;Eurexp|euxassay_009317|brain, cervical, cervico-thoracic, medulla, mesenchyme, midgut, oesophagus, spinal cord, stomach, thoracic, tongue, trigeminal V, ventricle, ventricular layer;BrainSpMouseDev|11304	OMIM|102981
Astrocyte	SLC35A5	1.457212062	0.006807039	Membrane transport protein	BrainSpLMD|55032	
Astrocyte	UGP2	1.045781557	0.007272084	Enzyme: Nucleotidyltransferase	BrainSpLMD|7360;Eurexp|euxassay_006932|calyces, cortex, stomach	OMIM|191760
Astrocyte	TRAPPC3	1.894730995	0.007299462	Transport/cargo protein	BrainSpLMD|27095;Eurexp|euxassay_004809|brain, dorsal root ganglion, glossopharyngeal IX, olfactory, spinal cord, thymus primordium, trigeminal V, vagus X	OMIM|610955
Astrocyte	OPHN1	0.257712766	0.007568898	GTPase activating protein	BrainSpLMD|4983	SFARI||Autism, 3 - Suggestive evidence;OMIM|300127;HPO|4983|Attention deficit hyperactivity disorder, Autism, Cerebellar hypoplasia, Cryptorchidism, Deeply set eye, Delayed speech and language development, Disorganization of the anterior cerebellar vermis, Dysmetria, Enlarged cisterna magna, Frontal bossing, Gait ataxia, Generalized hypotonia, Global developmental delay, Hyperactivity, Hypotelorism, Infantile onset, Intellectual disability, Long face, Long nose, Macrocephaly, Macrotia, Mandibular prognathia, Micropenis, Microphallus, Muscular hypotonia, Neurological speech impairment, Nystagmus, Prominent forehead, Prominent supraorbital ridges, Retrocerebellar cyst, Scrotal hypoplasia, Seizures, Short philtrum, Spasticity, Strabismus, Thin upper lip vermilion, X-linked recessive inheritance
Astrocyte	MAGI1	0.628634385	0.00758224	Cell junction protein	BrainSpLMD|9223;Eurexp|euxassay_016214|axial skeleton, clavicle, femur, fibula, humerus, pelvic girdle, rib, scapula, tibia	OMIM|602625
Astrocyte	PDLIM3	0.941532575	0.007788424	Unclassified	BrainSpLMD|27295	OMIM|605889
Astrocyte	C8orf4	1.40299414	0.007852179			
Astrocyte	GPC6	1.422921882	0.007891691	Growth factor	BrainSpLMD|10082	SFARI||Autism, 4 - Minimal evidence;OMIM|604404;HPO|10082|Anterolateral radial head dislocation, Atrial septal defect, Autosomal recessive inheritance, Axillary pterygia, Blepharophimosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Fibular hypoplasia, Flat face, Frontal bossing, Hemangioma, Hypoplastic distal humeri, Increased fibular diameter, Limited elbow extension, Limited elbow flexion, Limited elbow flexion/extension, Limited hip movement, Limited knee extension, Limited knee flexion, Limited knee flexion/extension, Long philtrum, Malar flattening, Micrognathia, Popliteal pterygium, Pulmonary artery stenosis, Rhizomelia, Short humerus, Short neck, Short nose, Short tibia, Umbilical hernia, Ventricular septal defect, Wide nasal bridge
Astrocyte	RHOA	0.617947396	0.007924024	GTPase	BrainSpLMD|387;BrainSpMouseDev|11635	OMIM|165390;COSMIC||diffuse gastric, T cell lymphomas, paediatric Burkitt lymphoma
Astrocyte	ARHGAP5	0.779555673	0.008076554	GTPase activating protein	BrainSpLMD|394	OMIM|602680;COSMIC||colon cancer, glioma
Astrocyte	CNDP2	0.660114457	0.00845025	Metallo protease	BrainSpLMD|55748	OMIM|169800
Astrocyte	USP46	0.410822297	0.008466499	Ubiquitin proteasome system protein	BrainSpLMD|64854	OMIM|612849
Astrocyte	NLGN3	0.807906107	0.008587568	Integral membrane protein	BrainSpLMD|54413	SFARI||Autism, 2 - Strong candidate;OMIM|300336
Astrocyte	TACC1	0.347933431	0.008831212	Cell cycle control protein	BrainSpLMD|6867	OMIM|605301
Astrocyte	MMP16	0.485841789	0.008937374	Metallo protease	BrainSpLMD|4325;Eurexp|euxassay_002543|body-wall mesenchyme, cochlear duct, cranium, head mesenchyme, mandible, rib, vibrissa	OMIM|602262
Astrocyte	PKM	0.308805122	0.008987133	Enzyme: Phosphotransferase	BrainSpLMD|5315	OMIM|179050
Astrocyte	RREB1	1.106312743	0.009257308	Transcription factor	BrainSpLMD|6239;Eurexp|euxassay_007568|mantle layer;BrainSpMouseDev|44592	OMIM|602209;HPO|6239|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
Astrocyte	LDHB	0.631613138	0.009276248	Enzyme: Dehydrogenase	BrainSpLMD|3945	OMIM|150100
Astrocyte	LGALS3BP	1.086348	0.009287621	Extracellular matrix protein	BrainSpLMD|3959;Eurexp|euxassay_002816|axial muscle, choroid plexus, foregut-midgut junction, hindgut, integumental system, lateral recess, lobe, midgut, pancreas, rectum, renal/urinary system, stomach, thymus primordium	OMIM|600626
Astrocyte	PDXK	1.336693301	0.009393904	Enzyme: Phosphotransferase	BrainSpLMD|8566;Eurexp|euxassay_018332|clavicle, cortex, hindgut, incisor, lobe, lung, mandible, maxilla, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, rectum, submandibular gland primordium, thymus primordium, thyroid, urethra, ventricular layer, vibrissa, vomeronasal organ	OMIM|179020
Astrocyte	CERS6	0.4070051	0.009454902	Transcription regulatory protein	BrainSpLMD|253782	OMIM|615336
Astrocyte	PAQR7	0.677125189	0.009491647	Cell surface receptor	BrainSpLMD|164091;Eurexp|euxassay_006273|ventricular layer	OMIM|607779
Astrocyte	LPP	1.153697956	0.009507399	Unclassified	BrainSpLMD|4026	OMIM|600700;COSMIC||lipoma, leukaemia
Astrocyte	NDUFB3	0.772460306	0.009622093	Enzyme: Oxidoreductase	BrainSpLMD|4709	OMIM|603839;HPO|4709|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
RG-div2	LPAR4	2.61180202	0	G protein coupled receptor	BrainSpLMD|2846;Eurexp|euxassay_008259|axial skeleton, basisphenoid bone, clavicle, diaphragm, femur, fibula, footplate, handplate, humerus, knee, metatarsus, midgut, naris, nasal septum, otic capsule, paraxial mesenchyme, phalanx, rest of mesenchyme, rib, skeletal muscle, sternum, stomach, thyroid, tibia, tongue, turbinate bones, ventricle, vertebral axis muscle system	OMIM|300086
RG-div2	ZIC5	2.291564775	0	DNA binding protein	BrainSpLMD|85416;BrainSpMouseDev|41618	
RG-div2	FAM107A	2.283587997	0	Unclassified	BrainSpLMD|11170;Eurexp|euxassay_005179|inner ear, olfactory	OMIM|608295
RG-div2	FOLH1	2.258239892	0	Carboxypeptidase	BrainSpLMD|2346	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600934
RG-div2	HTR2A	2.247539239	0	G protein coupled receptor	BrainSpLMD|3356;BrainSpMouseDev|15333	SFARI||Autism, 5 - Hypothesized but untested;OMIM|182135
RG-div2	TKTL1	2.153898841	0	Enzyme: Transketolase	BrainSpLMD|8277	OMIM|300044
RG-div2	Z83001.1	2.132017259	0			
RG-div2	LRP4	2.095925781	0	Cell surface receptor	Eurexp|euxassay_011129|alar columns, epithelium, glomeruli, incisor, mantle layer, molar, olfactory, ventricular layer, vibrissa	OMIM|604270;HPO|4038|2-3 finger syndactyly, Abnormal cortical bone morphology, Abnormality of the nose, Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital onset, Craniofacial hyperostosis, Curved distal phalanges of the hand, Cutaneous finger syndactyly, Diaphyseal thickening, Difficulty walking, Downslanted palpebral fissures, Facial palsy, Feeding difficulties, Fingernail dysplasia, Frontal bossing, Hearing impairment, Hypertelorism, Hypoplasia of the radius, Hypoplasia of the ulna, Hyporeflexia, Increased bone mineral density, Macrocephaly, Mandibular prognathia, Micrognathia, Nail dysplasia, Prominent forehead, Ptosis, Renal agenesis, Renal hypoplasia, Sensorineural hearing impairment, Short finger, Syndactyly, Tall stature
RG-div2	S1PR1	2.046149686	0	G protein coupled receptor	BrainSpLMD|1901;BrainSpMouseDev|13387	OMIM|601974
RG-div2	FGFR3	2.022261211	0	Receptor tyrosine kinase;Tyrosine kinase	BrainSpLMD|2261;Eurexp|euxassay_006120|embryo;BrainSpMouseDev|13961	OMIM|134934;COSMIC||bladder, MM, T-cell lymphoma, Hypochondroplasia, Thanatophoric dysplasia;HPO|2261|2-3 finger syndactyly, Abnormal form of the vertebral bodies, Abnormality of femur morphology, Abnormality of lower limb joint, Abnormality of metabolism/homeostasis, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the cervical spine, Abnormality of the clavicle, Abnormality of the elbow, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the ribs, Absence of Stensen duct, Absent lacrimal punctum, Absent proximal phalanx of thumb, Absent radius, Acanthosis nigricans, Alacrima, Anteverted nares, Aplasia of the parotid gland, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the mandible, Aplasia/hypoplasia of the extremities, Arachnodactyly, Arnold-Chiari malformation, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bilateral triphalangeal thumbs, Blepharospasm, Bowing of the long bones, Brachycephaly, Brachydactyly, Brain atrophy, Brain stem compression, Broad femoral metaphyses, Broad forehead, Broad hallux, Camptodactyly of finger, Camptodactyly of toe, Capitate-hamate fusion, Carious teeth, Carpal synostosis, Central apnea, Childhood onset short-limb short stature, Choanal atresia, Chronic otitis media, Clinodactyly, Clinodactyly of the 5th finger, Cloverleaf skull, Cognitive impairment, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Conical incisor, Convex nasal ridge, Corneal perforation, Coronal craniosynostosis, Coronal hypospadias, Craniosynostosis, Cryptorchidism, Cupped ear, Dacryocystitis, Decreased fetal movement, Delayed cranial suture closure, Delayed eruption of primary teeth, Dental crowding, Dental malocclusion, Depressed nasal bridge, Diaphyseal thickening, Downslanted palpebral fissures, Enlarged cerebellum, Excessive wrinkled skin, External ear malformation, Facial asymmetry, Femoral bowing, Fibular bowing, Finger syndactyly, Flared metaphysis, Flat face, Frontal bossing, Generalized joint laxity, Generalized seizures, Genu varum, Global developmental delay, Gonadal dysgenesis, Hearing impairment, Hereditary nonpolyposis colorectal carcinoma, Heterotopia, High forehead, High palate, High, narrow palate, Hydrocephalus, Hyperextensible skin, Hyperhidrosis, Hyperlordosis, Hypertelorism, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the corpus callosum, Hypoplasia of the lacrimal puncta, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic ilia, Hypoplastic lacrimal duct, Increased intracranial pressure, Increased nuchal translucency, Increased vertebral height, Infantile muscular hypotonia, Inflammatory abnormality of the eye, Intellectual disability, Intellectual disability, profound, Intellectual disability, severe, Intrauterine growth retardation, Joint contracture of the hand, Joint hyperflexibility, Kyphosis, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Lethal short-limbed short stature, Limited elbow extension, Limited hip extension, Long thorax, Low anterior hairline, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Macrocephaly, Malar flattening, Megalencephaly, Melanocytic nevus, Mesomelia, Metaphyseal chondrodysplasia, Metaphyseal irregularity, Microcephaly, Micromelia, Microtia, Midface retrusion, Mixed hearing impairment, Motor delay, Muscular hypotonia, Narrow chest, Narrow internal auditory canal, Narrow palate, Narrow sacroiliac notch, Nasolacrimal duct obstruction, Neonatal death, Neonatal short-limb short stature, Neoplasm, Neoplasm of the stomach, Nephrosclerosis, Numerous nevi, Obesity, Obstructive sleep apnea, Open bite, Osteochondroma, Otitis media, Partial duplication of thumb phalanx, Pectus excavatum, Periorbital fullness, Plagiocephaly, Platyspondyly, Polyhydramnios, Preaxial polydactyly, Prominent crus of helix, Prominent nasal bridge, Proptosis, Ptosis, Radial deviation of finger, Radial deviation of the 3rd finger, Recurrent corneal erosions, Recurrent otitis media, Redundant skin, Renal agenesis, Renal cell carcinoma, Respiratory insufficiency, Rhizomelia, Scoliosis, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe platyspondyly, Severe short stature, Short femoral neck, Short femur, Short foot, Short long bone, Short middle phalanx of finger, Short middle phalanx of toe, Short palm, Short ribs, Short sacroiliac notch, Short stature, Short thorax, Short toe, Skeletal dysplasia, Sleep apnea, Small abnormally formed scapulae, Small face, Small foramen magnum, Small thenar eminence, Somatic mutation, Spinal stenosis with reduced interpedicular distance, Split hand, Sporadic, Strabismus, Tall stature, Tarsal synostosis, Telecanthus, Teratoma, Thimble-shaped middle phalanges of hand, Tibial bowing, Transitional cell carcinoma of the bladder, Trident hand, Turricephaly, Underdeveloped supraorbital ridges, Upper airway obstruction, Uterine leiomyosarcoma, Ventriculomegaly, Visual field defect, Wide anterior fontanel, Wide-cupped costochondral junctions, Wormian bones, Xerostomia
RG-div2	FZD8	2.018041548	0	G protein coupled receptor	BrainSpLMD|8325;BrainSpMouseDev|14146	OMIM|606146
RG-div2	CENPQ	1.965970026	0	Unclassified	BrainSpLMD|55166	OMIM|611506
RG-div2	GPX3	1.944313284	0	Enzyme: Peroxidase	BrainSpLMD|2878;Eurexp|euxassay_003296|foregut-midgut junction, hindgut, incisor, left atrium, midgut, right atrium, stomach;BrainSpMouseDev|14554	OMIM|138321
RG-div2	MEGF10	1.93897448	0	Structural protein	BrainSpLMD|84466	SFARI||Autism, 4 - Minimal evidence;OMIM|612453;HPO|84466|Areflexia, Autosomal recessive inheritance, Camptodactyly of finger, Cleft palate, Congenital onset, Decreased fetal movement, Diaphragmatic paralysis, Difficulty running, Dysphagia, Facial palsy, Failure to thrive, High palate, Hyporeflexia, Motor delay, Nasal speech, Neonatal hypotonia, Pectus excavatum, Poor head control, Respiratory distress, Respiratory failure, Restrictive ventilatory defect, Scoliosis, Talipes equinovarus, Variable expressivity
RG-div2	MOXD1	1.937306712	0	Enzyme: Oxygenase	BrainSpLMD|26002	OMIM|609000
RG-div2	SLC1A3	1.931283474	0	Transport/cargo protein	BrainSpLMD|6507;Eurexp|euxassay_001899|mantle layer, thymus primordium, tongue, ventral grey horn, ventricular layer;BrainSpMouseDev|20274	OMIM|600111;HPO|6507|Autosomal dominant inheritance, Cerebellar hypoplasia, Diplopia, Dysarthria, Episodic ataxia, Generalized hypotonia, Hemiparesis, Hemiplegia, Migraine, Motor delay, Nausea, Phonophobia, Photophobia, Seizures, Slurred speech, Truncal ataxia, Vertigo, Vomiting
RG-div2	TMEM132B	1.925457675	0	Integral membrane protein		
RG-div2	HOPX	1.894800995	0	Transcription regulatory protein	BrainSpLMD|84525;Eurexp|euxassay_010529|anterior, atrium, external, lateral wall, mantle layer, midgut, ventricle, ventricular layer, vibrissa;BrainSpMouseDev|50159	OMIM|607275
RG-div2	GLI3	1.894763355	0	Transcription factor	BrainSpLMD|2737;Eurexp|euxassay_018378|axial skeleton, mesenchyme, phalanx, ventricular layer;BrainSpMouseDev|14410	OMIM|165240;HPO|2737|1-5 toe syndactyly, 3-4 finger syndactyly, Abnormal lung lobation, Abnormality of earlobe, Accelerated skeletal maturation, Anal atresia, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Bifid epiglottis, Broad hallux phalanx, Broad thumb, Cryptorchidism, Dandy-Walker malformation, Decreased circulating cortisol level, Decreased testicular size, Distal shortening of limbs, Distal urethral duplication, Dysplastic distal thumb phalanges with a central hole, Ectopic kidney, Esophageal atresia, Finger syndactyly, Frontal bossing, Growth hormone deficiency, High forehead, Hip dislocation, Holoprosencephaly, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplasia of the epiglottis, Intellectual disability, severe, Intrauterine growth retardation, Laryngeal cleft, Macrocephaly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Micropenis, Nail dysplasia, Neonatal death, Panhypopituitarism, Postaxial foot polydactyly, Postaxial hand polydactyly, Preaxial foot polydactyly, Preaxial polydactyly, Precocious puberty, Preductal coarctation of the aorta, Prominent occiput, Radial head subluxation, Renal cyst, Renal dysplasia, Renal hypoplasia, Scaphocephaly, Seizures, Short nose, Short stature, Sloping forehead, Telecanthus, Thyroid dysgenesis, Toe syndactyly, Tracheoesophageal fistula, Trigonocephaly, Triphalangeal thumb, Variable expressivity, Ventricular septal defect, Wide nasal bridge
RG-div2	MCM5	1.894346134	0	DNA binding protein	BrainSpLMD|4174	OMIM|602696
RG-div2	RHOJ	1.889987175	0	GTPase	BrainSpLMD|57381;Eurexp|euxassay_002084|alimentary system, cavities and their linings, gland, integumental system, limb, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, tail, vertebral axis muscle system	OMIM|607653
RG-div2	COL4A6	1.877002646	0	Extracellular matrix protein	BrainSpLMD|1288;Eurexp|euxassay_009999|associated mesenchyme, basioccipital bone, clavicle, femur, fibula, humerus, lens, mandible, maxilla, meninges, nasal septum, orbito-sphenoid, otic capsule, petrous part, phalanx, renal/urinary system, rib, submandibular gland primordium, tibia, trunk mesenchyme, turbinate bones, vault of skull	OMIM|303631;HPO|1288|Cochlear malformation, Hearing impairment, X-linked recessive inheritance
RG-div2	NPM1P6	1.864619807	0			
RG-div2	EMP2	1.849810449	0	Cell cycle control protein	BrainSpLMD|2013;Eurexp|euxassay_013721|bladder, epithelium, incisor, larynx, left lung, mantle layer, marginal layer, midgut, molar, pharyngo-tympanic tube, rectum, right lung, skeletal muscle, stomach, thymus primordium, trachea, urethra, ventricular layer, vibrissa	OMIM|602334;HPO|2013|Autosomal recessive inheritance, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome
RG-div2	C8orf4	1.839758107	0			
RG-div2	XRCC2	1.832538896	0	DNA binding protein	BrainSpLMD|7516	OMIM|600375;HPO|7516|Abnormality of chromosome stability, Absent scaphoid, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Global developmental delay, Growth delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Patent ductus arteriosus, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia
RG-div2	BOC	1.812524907	0	Cell surface receptor	BrainSpLMD|91653;Eurexp|euxassay_005272|intermediate grey horn, mantle layer, marginal layer, mesenchyme, trachea, ventricular layer;BrainSpMouseDev|78669	OMIM|608708
RG-div2	PPAP2B	1.802319188	0			
RG-div2	ETV5	1.799151333	0	Transcription regulatory protein	BrainSpLMD|2119;Eurexp|euxassay_000518|calyces, cranium, incisor, lung, otic capsule, submandibular gland primordium, testis, turbinate bones, ventricular layer;BrainSpMouseDev|68321	OMIM|601600;COSMIC||prostate
RG-div2	LINC00943	1.776612229	0			
RG-div2	TFAP2C	1.766242708	0	Transcription factor	BrainSpLMD|7022;BrainSpMouseDev|21181	OMIM|601602
RG-div2	LTBP1	1.764013467	0	Extracellular matrix protein	BrainSpLMD|4052	OMIM|150390
RG-div2	PREX2	1.762734127	0	Guanine nucleotide exchange factor	BrainSpLMD|80243	OMIM|612139;COSMIC||melanoma, pancreatic ductal adenocarcinoma
RG-div2	LIFR	1.745250209	0	Cytokine receptor	BrainSpLMD|3977;Eurexp|euxassay_010649|axial muscle, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, orbito-sphenoid, thymus primordium, thyroid, tongue, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16651	OMIM|151443;COSMIC||salivary adenoma;HPO|3977|Abnormal metaphyseal trabeculation, Abnormality of dental enamel, Abnormality of vision, Absent patellar reflexes, Adducted thumb, Apnea, Asthma, Autosomal recessive inheritance, Blotching pigmentation of the skin, Broad ischia, Camptodactyly of finger, Contracture of the proximal interphalangeal joint of the 5th finger, Dysautonomia, Dysphagia, Elbow flexion contracture, Enlarged joints, Episodic fever, Feeding difficulties, Feeding difficulties in infancy, Femoral bowing, Flared metaphysis, Flexion contracture of toe, Frontal bossing, Generalized hypotonia, Genu valgum, Hoarse voice, Hyperhidrosis, Hypohidrosis, Hypoplastic iliac body, Impaired pain sensation, Intrauterine growth retardation, Knee flexion contracture, Lacrimation abnormality, Low-set ears, Malar flattening, Metaphyseal rarefaction, Metaphyseal widening, Micrognathia, Micromelia, Midface retrusion, Myotonia, Nasal speech, Oligohydramnios, Opacification of the corneal stroma, Osteopenia, Osteoporosis, Paresthesia, Pathologic fracture, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Pursed lips, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Short neck, Short nose, Short palpebral fissure, Short phalanx of finger, Short stature, Short tibia, Single transverse palmar crease, Skeletal dysplasia, Smooth tongue, Square face, Talipes, Talipes equinovarus, Talipes valgus, Thickened cortex of long bones, Thin ribs, Thin skin, Tibial bowing, Trismus, Ulnar deviation of finger, Wide nasal base
RG-div2	SALL3	1.743922273	0	DNA binding protein	BrainSpLMD|27164;Eurexp|euxassay_010911|cochlea, glomeruli, inner ear, lip, mantle layer, medulla oblongata, palatal shelf, penis, utricle, valve, ventricular layer;BrainSpMouseDev|20451	OMIM|605079
RG-div2	ITGA2	1.740039756	0	Cell surface receptor	BrainSpLMD|3673;Eurexp|euxassay_009582|medulla	OMIM|192974;HPO|3673|Autosomal dominant inheritance, Bruising susceptibility, Congenital onset, Thrombocytopenia
RG-div2	GLI2	1.737857197	0	Transcription factor	BrainSpLMD|2736;Eurexp|euxassay_008920|marginal layer, ventricular layer;BrainSpMouseDev|14409	OMIM|165230;HPO|2736|Abnormal cortical gyration, Abnormal prolactin level, Abnormality of secondary sexual hair, Agenesis of incisor, Amenorrhea, Anophthalmia, Anterior pituitary agenesis, Anterior pituitary hypoplasia, Aplasia/Hypoplasia of the breasts, Autosomal dominant inheritance, Bilateral cleft lip and palate, Cryptorchidism, Decreased circulating ACTH level, Decreased testicular size, Dental malocclusion, Depressed nasal bridge, Depressed nasal ridge, Ectopic posterior pituitary, Fatigue, Global developmental delay, Growth hormone deficiency, Holoprosencephaly, Hydrocephalus, Hypoglycemia, Hypogonadotrophic hypogonadism, Hypopituitarism, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Hypotelorism, Hypotension, Incomplete penetrance, Infertility, Macrotia, Malar flattening, Microcephaly, Micropenis, Microphthalmia, Midface retrusion, Optic nerve hypoplasia, Osteopenia, Panhypopituitarism, Partial agenesis of the corpus callosum, Pituitary hypothyroidism, Postaxial hand polydactyly, Prominent antihelix, Seizures, Short hard palate, Short philtrum, Short stature, Single median maxillary incisor, Single naris, Sporadic, Underdeveloped tragus, Variable expressivity
RG-div2	CENPM	1.731301235	0	Unclassified	BrainSpLMD|79019	OMIM|610152
RG-div2	BRCA1	1.728700618	0	Transcription regulatory protein	BrainSpLMD|672;Eurexp|euxassay_019531|incisor, liver, lung, marginal layer, metanephros, molar, olfactory, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|11975	OMIM|113705;COSMIC||ovarian, breast, ovarian;HPO|672|Abdominal distention, Abdominal pain, Abnormality of the fallopian tube, Autosomal dominant inheritance, Breast carcinoma, Constipation, Heterogeneous, Nausea and vomiting, Neoplasm, Ovarian neoplasm, Peritonitis, Primary peritoneal carcinoma
RG-div2	SLCO1C1	1.720122157	0	Membrane transport protein	BrainSpLMD|53919;Eurexp|euxassay_007061|4th ventricle, choroid plexus, forebrain, hindbrain, meninges, midbrain, spinal cord, ventricular layer	OMIM|613389
RG-div2	F3	1.70036099	0	Coagulation factor	BrainSpLMD|2152;Eurexp|euxassay_009157|axial muscle, calyces, epithelium, larynx, left lung, midgut, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, pyloric region, rectum, right lung, ventricular layer, vibrissa	OMIM|134390
RG-div2	CA12	1.695867065	0	Enzyme: Carbonic anhydrase	BrainSpLMD|771;Eurexp|euxassay_018906|choroid plexus, clavicle, epithelium, incisor, molar, nasal septum, olfactory, oral epithelium, submandibular gland primordium, vibrissa	OMIM|603263;HPO|771|Autosomal dominant inheritance, Autosomal recessive inheritance, Dehydration, Failure to thrive, Feeding difficulties, Hyperkalemia, Hyponatremia, Infantile onset
RG-div2	NOG	1.691085593	0	Secreted polypeptide	BrainSpLMD|9241;Eurexp|euxassay_009618|axial skeleton, mandible, mantle layer, nasal septum, otic capsule, phalanx, rib, sternum, thyroid, turbinate bones, ventral grey horn;BrainSpMouseDev|17888	OMIM|602991;HPO|9241|2-3 toe syndactyly, Abnormal vertebral morphology, Abnormality of the ankles, Absent distal interphalangeal creases, Absent distal phalanges, Absent fingernail, Absent phalangeal crease, Anonychia, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the nails, Aplastic/hypoplastic toenail, Autosomal dominant inheritance, Brachydactyly, Broad hallux, Broad thumb, Camptodactyly of finger, Carpal synostosis, Clinodactyly, Conductive hearing impairment, Congenital stapes ankylosis, Cubitus valgus, Cutaneous finger syndactyly, Cutaneous syndactyly of toes, Dislocated radial head, Elbow ankylosis, Elbow dislocation, Enlargement of the costochondral junction, Finger syndactyly, Fusion of midphalangeal joints, Hypermetropia, Hypoplastic nasal septum, Hypoplastic spinal processes, Long nose, Low hanging columella, Lower limb undergrowth, Metacarpophalangeal synostosis, Narrow face, Pectus excavatum, Progressive conductive hearing impairment, Progressive fusion 2nd-5th pip joints, Proximal placement of thumb, Proximal symphalangism, Proximal symphalangism of hands, Proximal/middle symphalangism of 5th finger, Radial deviation of finger, Sensorineural hearing impairment, Short 1st metacarpal, Short 5th metacarpal, Short distal phalanx of finger, Short distal phalanx of toe, Short finger, Short foot, Short hallux, Short humerus, Short lower limbs, Short philtrum, Short stature, Short sternum, Single transverse palmar crease, Spinal canal stenosis, Stapes ankylosis, Strabismus, Symphalangism affecting the phalanges of the hand, Synostosis of carpal bones, Tarsal synostosis, Thick upper lip vermilion, Thin upper lip vermilion, Toe syndactyly, Type B brachydactyly, Underdeveloped nasal alae, Waddling gait
RG-div2	LRRC3B	1.675350705	0	Unclassified	BrainSpLMD|116135	
RG-div2	TK1	1.675019468	0	Enzyme: Phosphotransferase	BrainSpLMD|7083;Eurexp|euxassay_001974|thymus primordium	OMIM|188300
RG-div2	CHST10	1.674566303	0	Enzyme: Sulphotransferase	BrainSpLMD|9486	OMIM|606376
RG-div2	MCM4	1.669207396	0	DNA binding protein	BrainSpLMD|4173	SFARI||Autism, 4 - Minimal evidence;OMIM|602638;HPO|4173|Adrenal insufficiency, Autosomal recessive inheritance, Global developmental delay, Hepatomegaly, Intrauterine growth retardation, Lymphadenopathy, Lymphoproliferative disorder, Microcephaly, Postnatal growth retardation, Recurrent respiratory infections, Recurrent viral infections, Splenomegaly
RG-div2	PSAT1	1.668425027	0	Enzyme: Aminotransferase	BrainSpLMD|29968;Eurexp|euxassay_001596|cranium, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|610936;HPO|29968|Abnormality of the philtrum, Abnormality of the pinna, Absent septum pellucidum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Broad foot, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cleft palate, Congenital onset, Dandy-Walker malformation, Decreased fetal movement, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Feeding difficulties in infancy, Global developmental delay, High palate, Hypertelorism, Hypertonia, Hypoglycinemia, Hypogonadism, Hyposerinemia, Ichthyosis, Infantile onset, Intrauterine growth retardation, Lack of skin elasticity, Large hands, Lissencephaly, Low-set ears, Macrogyria, Macrotia, Microcephaly, Micrognathia, Muscle cramps, Muscular dystrophy, Opisthotonus, Pachygyria, Polyhydramnios, Polymicrogyria, Postnatal microcephaly, Proptosis, Rocker bottom foot, Scoliosis, Seizures, Short neck, Skeletal muscle atrophy, Sloping forehead, Thick vermilion border, Trismus
RG-div2	AIF1L	1.659507412	0	Calcium binding protein	BrainSpLMD|83543;Eurexp|euxassay_002250|basisphenoid bone, orbito-sphenoid, turbinate, ventricular layer	
RG-div2	BRIP1	1.656780339	0	DNA helicase	BrainSpLMD|83990;Eurexp|euxassay_013686|cochlea, marginal layer, ventricular layer	OMIM|605882;COSMIC||AML, leukaemia, breast;HPO|83990|Abnormality of chromosome stability, Abnormality of the fallopian tube, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone marrow hypocellularity, Breast carcinoma, Chromosomal breakage induced by crosslinking agents, Esophageal atresia, Global developmental delay, Heterogeneous, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Ovarian neoplasm, Postnatal growth retardation, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
RG-div2	GINS2	1.656602295	0	Unclassified	BrainSpLMD|51659	OMIM|610609
RG-div2	WSCD1	1.654177334	0	Integral membrane protein	BrainSpLMD|23302;Eurexp|euxassay_007047|anterior, brain, calyces, cardiac muscle, ductus deferens, incisor, inner ear, mesenchyme, molar, olfactory, optic II, pelvis, posterior, renal/urinary system, retina, spinal cord, thymus primordium, ureter, vagus X, vertebral axis muscle system, vomeronasal organ	
RG-div2	LGALS3BP	1.652975672	0	Extracellular matrix protein	BrainSpLMD|3959;Eurexp|euxassay_002816|axial muscle, choroid plexus, foregut-midgut junction, hindgut, integumental system, lateral recess, lobe, midgut, pancreas, rectum, renal/urinary system, stomach, thymus primordium	OMIM|600626
RG-div2	DACH1	1.646039851	0	Transcription regulatory protein	BrainSpLMD|1602;Eurexp|euxassay_012739|associated mesenchyme, bladder, calyces, cortex, dermis, dorsal root ganglion, facial VII, left lung, mantle layer, meninges, midgut, olfactory, oral region, pelvis, penis, retina, right lung, stomach, thymus primordium, trigeminal V, ureter, urethra, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|12914	OMIM|603803
RG-div2	CYR61	1.642448249	0	Extracellular matrix protein	BrainSpLMD|3491;BrainSpMouseDev|15780	OMIM|602369
RG-div2	MELK	1.635275123	0	Serine/threonine kinase	BrainSpLMD|9833;Eurexp|euxassay_018584|4th ventricle, choroid plexus, clavicle, cortex, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, hindgut, incisor, left, loop, lumen, mandible, mantle layer, maxilla, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, pancreas, rectum, renal/urinary system, respiratory, right, stomach, submandibular gland primordium, testis, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|607025
RG-div2	JPH1	1.623309056	0	Cell junction protein	BrainSpLMD|56704	OMIM|605266;HPO|56704|Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Axonal regeneration, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Infantile onset, Kyphoscoliosis, Proximal muscle weakness, Split hand, Talipes equinovarus
RG-div2	EEPD1	1.613300589	0	DNA binding protein	BrainSpLMD|80820;Eurexp|euxassay_002552|dorsal root ganglion, facial VII, orbito-sphenoid, trigeminal V	OMIM|617192
RG-div2	NPY	1.609503082	0	Unclassified	BrainSpLMD|4852;Eurexp|euxassay_000446|basal plate, diencephalon, dorsal grey horn, mantle layer, marginal layer, telencephalon;BrainSpMouseDev|73806	OMIM|162640
RG-div2	GULP1	1.607197876	0	Adapter molecule	BrainSpLMD|51454	OMIM|608165
RG-div2	PTN	1.606793115	0	Cytokine	BrainSpLMD|5764	OMIM|162095
RG-div2	AC114877.3	1.59585856	0			
RG-div2	BRCA2	1.595383285	0	Transcription regulatory protein	BrainSpLMD|675;Eurexp|euxassay_019615|ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|600185;COSMIC||breast, ovarian, pancreatic, breast, ovarian, pancreatic, leukaemia  (FANCB, FANCD1);HPO|675|Abdominal pain, Abnormality of chromosome stability, Abnormality of the fallopian tube, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone marrow hypocellularity, Breast carcinoma, Chromosomal breakage induced by crosslinking agents, Esophageal atresia, Global developmental delay, Heterogeneous, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Nephroblastoma, Ovarian neoplasm, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Somatic mutation, Thrombocytopenia, Tracheoesophageal fistula
RG-div2	KNTC1	1.595258943	0	Cell cycle control protein	BrainSpLMD|9735;Eurexp|euxassay_011295|ventricular layer	OMIM|607363
RG-div2	CDK2	1.594475295	0	Cell cycle control protein	BrainSpLMD|1017	OMIM|116953
RG-div2	LIPG	1.592040967	0	Enzyme: Lipase	BrainSpLMD|9388;Eurexp|euxassay_018714|4th ventricle, incisor, larynx, lung, metanephros, midgut, molar, naris, nasal septum, olfactory, rectum, respiratory, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|603684
RG-div2	GPC4	1.590613901	0	Integral membrane protein	BrainSpLMD|2239;Eurexp|euxassay_004882|aorta, bladder, clavicle, cochlea, diaphragm, dorsal grey horn, extrinsic ocular muscle, handplate, hindgut, lung, mandible, mantle layer, maxilla, maxillary division, medulla, mesenchyme, metanephros, midgut, pancreas, penis, pharyngo-tympanic tube, skeletal muscle, sternum, stomach, submandibular gland primordium, testis, thymus primordium, ventral grey horn, ventricular layer, vertebral axis muscle system	SFARI||Autism, 3 - Suggestive evidence;OMIM|300168;HPO|2239|2-3 finger syndactyly, Abnormal lung lobation, Abnormality of the helix, Abnormality of the ribs, Accelerated skeletal maturation, Agenesis of corpus callosum, Anteverted nares, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Birth length greater than 97th percentile, Broad foot, Broad palm, Broad secondary alveolar ridge, Broad thumb, Broad toe, Bundle branch block, Camptodactyly of finger, Cardiomyopathy, Cerebellar vermis hypoplasia, Cervical ribs, Cleft palate, Clinodactyly of the 5th finger, Coarse facial features, Congenital diaphragmatic hernia, Cryptorchidism, Death in infancy, Dental malocclusion, Depressed nasal bridge, Diastasis recti, Downslanted palpebral fissures, Duplication of renal pelvis, Enlarged kidney, Epicanthus, Finger syndactyly, Flared iliac wings, Generalized hypotonia, Hearing impairment, Hepatomegaly, Heterogeneous, High, narrow palate, Hydrocephalus, Hydronephrosis, Hydroureter, Hypertelorism, Hypoglycemia, Hypospadias, Increased IgE level, Inguinal hernia, Intestinal malrotation, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Mandibular prognathia, Meckel diverticulum, Multicystic kidney dysplasia, Nail dysplasia, Narrow sacroiliac notch, Nephroblastoma, Neurological speech impairment, Omphalocele, Pancreatic islet-cell hyperplasia, Patent ductus arteriosus, Pectus excavatum, Polyhydramnios, Polysplenia, Postaxial hand polydactyly, Posterior helix pit, Preauricular pit, Preauricular skin tag, Prolonged QT interval, Pulmonic stenosis, Renal cyst, Scoliosis, Short 2nd finger, Short distal phalanx of finger, Short foot, Short neck, Short nose, Short palm, Short sacroiliac notch, Short toe, Six lumbar vertebrae, Small nail, Somatic mutation, Splenomegaly, Submucous cleft lip, Supernumerary nipple, Talipes equinovarus, Tall stature, Toe syndactyly, Transposition of the great arteries, Two carpal ossification centers present at birth, Umbilical hernia, Ureteral duplication, Ventricular septal defect, Vertebral fusion, Vertebral segmentation defect, Webbed neck, Wide mouth, Wide nasal bridge, X-linked recessive inheritance
RG-div2	PAX6	1.580890783	0	Transcription factor	BrainSpLMD|5080;BrainSpMouseDev|18274	SFARI||Autism, No category;OMIM|607108;HPO|5080|Abnormal best corrected visual acuity test, Abnormality of movement, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the vagina, Abnormality of vision, Amblyopia, Aniridia, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the macula, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Cerebellar hypoplasia, Chorioretinal coloboma, Congenital glaucoma, Congenital nystagmus, Contiguous gene syndrome, Corneal opacity, Cryptorchidism, Displacement of the external urethral meatus, EEG abnormality, Everted lower lip vermilion, Generalized hyperpigmentation, Glaucoma, Global developmental delay, Hearing abnormality, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Hypoplasia of the iris, Hypospadias, Intellectual disability, Keratitis, Mask-like facies, Microcephaly, Micrognathia, Motor delay, Muscular hypotonia, Nephroblastoma, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Optic disc hypoplasia, Optic nerve aplasia, Optic nerve coloboma, Optic nerve hypoplasia, Peripheral vitreous opacities, Peters anomaly, Postural tremor, Presenile cataracts, Pseudopapilledema, Ptosis, Reduced visual acuity, Retinal detachment, Scanning speech, Short stature, Slurred speech, Somatic mutation, Strabismus, Streak ovary, Visual impairment, Visual loss
RG-div2	ATP1A2	1.57928808	0	ATPase	BrainSpLMD|477;Eurexp|euxassay_001505|brain, cervical, cervico-thoracic, cochlea, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mesenchyme, naris, neural retina, spinal cord, stroma, thoracic, tongue, trigeminal V, turbinate bones, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|62830	OMIM|182340;HPO|477|Abnormality of movement, Aphasia, Apraxia, Ataxia, Autosomal dominant inheritance, Blurred vision, Choreoathetosis, Coma, Confusion, Diplopia, Drowsiness, Dysarthria, Dysphasia, Dystonia, Episodic ataxia, Episodic hemiplegia, Episodic quadriplegia, Fever, Generalized tonic-clonic seizures, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Heterogeneous, Incomplete penetrance, Intellectual disability, Mental deterioration, Migraine with aura, Nystagmus, Seizures, Transient unilateral blurring of vision, Vertigo
RG-div2	PDPN	1.568151117	0	Water channel	BrainSpLMD|10630;Eurexp|euxassay_002001|axial skeleton, submandibular gland primordium, ventricular layer;BrainSpMouseDev|14502	OMIM|608863
RG-div2	EMX2OS	1.567205799	0			OMIM|607637
RG-div2	KIAA0101	1.564015648	0			
RG-div2	FABP5	1.560685583	0	Transport/cargo protein	Eurexp|euxassay_002194|axial skeleton, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lobe, molar, naris, thoracic, thymus primordium, trigeminal V, vagus X, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|605168
RG-div2	RP11.76I14.1	1.559465406	0			
RG-div2	MCM6	1.558613658	0	Cell cycle control protein	BrainSpLMD|4175	OMIM|601806;HPO|4175|Abdominal pain, Autosomal dominant inheritance, Autosomal recessive inheritance, Decreased small intestinal mucosa lactase activity, Diarrhea, Lactose intolerance
RG-div2	FGFBP3	1.556020461	0	Unclassified	BrainSpLMD|143282;Eurexp|euxassay_000173|basal columns, basal plate, corpus striatum, floor plate, floorplate, mantle layer, metencephalon, spinal cord, ventral grey horn, ventricular layer	SFARI||Autism, 5 - Hypothesized but untested
RG-div2	EMX2	1.547515857	0	Transcription factor	BrainSpLMD|2018;Eurexp|euxassay_019479|eyelid, lip, mantle layer, metanephros, olfactory, paramesonephric duct, phalanx, saccule, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|13575	OMIM|600035;HPO|2018|Schizencephaly
RG-div2	UHRF1	1.54378826	0	DNA binding protein	BrainSpLMD|29128	OMIM|607990
RG-div2	TBC1D1	1.537025494	0	Unclassified	BrainSpLMD|23216	OMIM|609850
RG-div2	HES1	1.536937138	0	Transcription factor	BrainSpLMD|3280;Eurexp|euxassay_019489|epithelium, floor plate, floorplate, hindgut, incisor, larynx, lung, metanephros, metatarsus, midgut, molar, neural retina, oesophagus, olfactory, oral epithelium, pancreas, phalanx, pharyngo-tympanic tube, skeleton, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|14981	OMIM|139605
RG-div2	MAST4	1.53529508	0	Unclassified	BrainSpLMD|375449;Eurexp|euxassay_011099|mantle layer, marginal layer, thymus primordium, ventral grey horn	
RG-div2	CENPN	1.532519119	0	Unclassified	BrainSpLMD|55839	OMIM|611509
RG-div2	MAGI2.AS3	1.529154299	0			
RG-div2	TNC	1.522555643	0	Adhesion molecule	BrainSpLMD|3371;Eurexp|euxassay_009501|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, cochlea, cochlear duct, diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, fibula, handplate, humerus, lip, lung, mandible, mantle layer, maxilla, maxillary division, mesenchyme, molar, nasal septum, oesophagus, orbito-sphenoid, palatal shelf, pelvic girdle, penis, pharyngo-tympanic tube, rib, scapula, skeletal muscle, sternum, temporal bone, thymus primordium, tibia, tongue, trigeminal V, vault of skull, ventral grey horn, ventricle, ventricular layer, vibrissa;BrainSpMouseDev|21680	OMIM|187380;COSMIC||SCC, melanoma;HPO|3371|Autosomal dominant inheritance, Hearing impairment
RG-div2	DSN1	1.520895414	0	Unclassified	BrainSpLMD|79980;Eurexp|euxassay_001983|ventricular layer	OMIM|609175
RG-div2	GFAP	1.517671452	0	Structural protein	BrainSpLMD|2670;BrainSpMouseDev|14356	OMIM|137780;HPO|2670|Ataxia, Autosomal dominant inheritance, Bulbar signs, Developmental regression, Diffuse demyelination of the cerebral white matter, Hydrocephalus, Increased CSF protein, Infantile onset, Progressive macrocephaly, Seizures, Spasticity
RG-div2	SOX9	1.516990264	0	Transcription factor	BrainSpLMD|6662;Eurexp|euxassay_002633|axial skeleton, basisphenoid bone, calyces, exoccipital bone, femur, lung, mesenchyme, naris, nasal septum, nucleus pulposus, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, pharyngo-tympanic tube, trachea, turbinate, ventricular layer, vibrissa;BrainSpMouseDev|20444	OMIM|608160;HPO|6662|11 pairs of ribs, Abnormal heart morphology, Abnormal scrotal rugation, Abnormal sex determination, Abnormality of male internal genitalia, Abnormality of the labia, Abnormality of the pharynx, Abnormality of the scrotum, Abnormality of the uterus, Absent sternal ossification, Ambiguous genitalia, Anterior tibial bowing, Apnea, Autosomal dominant inheritance, Azoospermia, Bifid scrotum, Blepharophimosis, Cleft palate, Clitoral hypertrophy, Cryptorchidism, Decreased fertility, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Depressed nasal bridge, Depressed nasal ridge, Disproportionate short-limb short stature, Dysgerminoma, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Failure to thrive, Female external genitalia in individual with 46,XY karyotype, Femoral bowing, Fibular hypoplasia, Flat face, Generalized hypotonia, Glossoptosis, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hearing impairment, High forehead, Hip dislocation, Hydrocephalus, Hydronephrosis, Hypergonadotropic hypogonadism, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the vagina, Hypoplastic cervical vertebrae, Hypoplastic iliac wing, Hypoplastic inferior ilia, Hypoplastic scapulae, Hypospadias, Kyphoscoliosis, Laryngomalacia, Low-set ears, Macrocephaly, Male hypogonadism, Male infertility, Male pseudohermaphroditism, Micrognathia, Micropenis, Narrow chest, Neonatal respiratory distress, Neonatal short-limb short stature, Osteoporosis, Polycystic ovaries, Polyhydramnios, Poorly ossified cervical vertebrae, Primary amenorrhea, Proptosis, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Scrotal hypoplasia, Sex reversal, Short neck, Short palpebral fissure, Short stature, Shortening of all phalanges of fingers, Shortening of all phalanges of the toes, Skin dimples, Small abnormally formed scapulae, Small face, Sparse axillary hair, Sparse pubic hair, Streak ovary, Talipes equinovarus, Testicular dysgenesis, Thin ribs, Thoracic hypoplasia, Tibial bowing, Tracheobronchomalacia, True hermaphroditism, Upper airway obstruction, Urogenital sinus anomaly, Vanishing testis, Wide anterior fontanel
RG-div2	DMRTA2	1.51395903	0	Transcription factor		OMIM|614804
RG-div2	CENPK	1.513128505	0	Unclassified	BrainSpLMD|64105	OMIM|611502
RG-div2	DOCK1	1.511803419	0	Guanine nucleotide exchange factor	BrainSpLMD|1793	SFARI||Autism, 4 - Minimal evidence;OMIM|601403
RG-div2	TLN2	1.507553925	0	Cytoskeletal associated protein	BrainSpLMD|83660	OMIM|607349
RG-div2	BMP7	1.503875697	0	Ligand	BrainSpLMD|655;BrainSpMouseDev|11948	OMIM|112267
RG-div2	ZWINT	1.500203651	0	Cell cycle control protein	BrainSpLMD|11130;Eurexp|euxassay_009942|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, valve, vestibulocochlear VIII	OMIM|609177
RG-div2	COL4A5	1.497196871	0	Extracellular matrix protein	BrainSpLMD|1287;Eurexp|euxassay_015894|bladder, ductus deferens, floorplate, lens, lung, meninges, stomach, sublingual gland primordium, submandibular gland primordium, thyroid, umbilical artery, umbilical vein, urethra, ventricular layer;BrainSpMouseDev|12613	OMIM|303630;HPO|1287|Anterior lenticonus, Congenital cataract, Corneal erosion, Diffuse glomerular basement membrane lamellation, Diffuse leiomyomatosis, Heterogeneous, Hypertension, Hypoparathyroidism, Ichthyosis, Microscopic hematuria, Myopia, Nephritis, Nephrotic syndrome, Progressive, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidney disease, Thickening of the glomerular basement membrane, Thrombocytopenia, X-linked dominant inheritance
RG-div2	RAD51AP1	1.494246588	0	DNA binding protein	BrainSpLMD|10635;Eurexp|euxassay_010685|ventricular layer	OMIM|603070
RG-div2	PUS7	1.488395368	0	Enzyme: Lyase	BrainSpLMD|54517	OMIM|616261
RG-div2	LRIG1	1.480323356	0	Cell surface receptor	BrainSpLMD|26018	OMIM|608868
RG-div2	PHGDH	1.476590707	0	Enzyme: Dehydrogenase	BrainSpLMD|26227	OMIM|606879;HPO|26227|Ablepharon, Abnormality of the philtrum, Absent eyelashes, Absent septum pellucidum, Adducted thumb, Agenesis of corpus callosum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Bifid uterus, Broad foot, Calcaneovalgus deformity, Camptodactyly, Cataract, Cerebellar hypoplasia, Cerebral dysmyelination, Choroid plexus cyst, Cleft palate, Cleft upper lip, Clinodactyly, Congenital cataract, Congenital microcephaly, Cryptorchidism, Dandy-Walker malformation, Decreased fetal movement, Decreased testicular size, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Finger syndactyly, Generalized edema, Growth delay, Hydranencephaly, Hypertelorism, Hypogonadism, Hypsarrhythmia, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Lack of skin elasticity, Large hands, Lissencephaly, Macrogyria, Macrotia, Megaloblastic anemia, Microcephaly, Micrognathia, Micromelia, Microphthalmia, Muscle cramps, Muscular dystrophy, Nystagmus, Opisthotonus, Pachygyria, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Polymicrogyria, Proptosis, Pterygium, Pulmonary hypoplasia, Radial deviation of finger, Renal agenesis, Rocker bottom foot, Seizures, Short neck, Short umbilical cord, Skeletal muscle atrophy, Sloping forehead, Small placenta, Spastic tetraplegia, Spina bifida, Stillbirth, Thick lower lip vermilion, Thick vermilion border, Thrombocytopenia, Toe syndactyly, Transposition of the great arteries, Trismus, Ventricular septal defect, Yellow subcutaneous tissue covered by thin, scaly skin
RG-div2	DHCR24	1.474403509	0	Enzyme: Reductase	BrainSpLMD|1718;Eurexp|euxassay_011628|adrenal gland, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lobe, lung, mantle layer, marginal layer, midgut, molar, neural retina, olfactory, pharyngo-tympanic tube, rectum, respiratory, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ	OMIM|606418;HPO|1718|Absent septum pellucidum, Agenesis of corpus callosum, Anteverted nares, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Bifid uvula, Depressed nasal bridge, Failure to thrive, Feeding difficulties, Hydrocephalus, Intellectual disability, Intrauterine growth retardation, Large earlobe, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Muscle stiffness, Narrow mouth, Nystagmus, Partial agenesis of the corpus callosum, Phenotypic variability, Relative macrocephaly, Retrognathia, Rigidity, Seizures, Severe short stature, Short nose, Spasticity, Status epilepticus, Strabismus, Submucous cleft hard palate, Ventriculomegaly
RG-div2	FANCI	1.471395212	0	Unclassified	BrainSpLMD|55215	OMIM|611360;HPO|55215|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
RG-div2	CCDC175	1.469061417	0			
RG-div2	FABP5P7	1.46312711	0			
RG-div2	NOTCH2	1.458591466	0	Cell surface receptor	BrainSpLMD|4853;Eurexp|euxassay_015406|alimentary system, cardiovascular system, cavities and their linings, choroid plexus, gland, integumental system, limb, marginal layer, meninges, mesenchyme, olfactory, renal/urinary system, reproductive system, respiratory system, skeleton, tail, ventricular layer, vertebral axis muscle system, vomeronasal organ;BrainSpMouseDev|17896	OMIM|600275;COSMIC||marginal zone lymphoma, DLBCL, bladder, Hajdu-Cheney syndrome, serpentine fibula-polycystic kidney syndrome;HPO|4853|Abnormality of the cardiac septa, Abnormality of the fingernails, Absent frontal sinuses, Anteverted nares, Arnold-Chiari malformation, Arthralgia, Atrial septal defect, Autosomal dominant inheritance, Basilar impression, Biconcave vertebral bodies, Bone pain, Brachydactyly, Broad forehead, Cervical instability, Cholestasis, Cholestatic liver disease, Coarse facial features, Conductive hearing impairment, Crowded carpal bones, Cryptorchidism, Decreased skull ossification, Dental malocclusion, Dislocated radial head, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Elongated sella turcica, Epicanthus, Failure to thrive, Foot acroosteolysis, Full cheeks, Generalized hirsutism, Genu valgum, Hearing impairment, Hematuria, High palate, Hirsutism, Hydrocephalus, Hypertelorism, Hypertension, Hypoplastic 5th lumbar vertebrae, Hypospadias, Inguinal hernia, Joint hyperflexibility, Joint laxity, Kyphoscoliosis, Large earlobe, Long eyelashes, Long nose, Long philtrum, Low-set ears, Macrocephaly, Micrognathia, Narrow mouth, Open bite, Osteolysis, Osteolytic defects of the phalanges of the hand, Osteopenia, Osteoporosis, Partial absence of toe, Patent ductus arteriosus, Pathologic fracture, Periodontitis, Peripheral pulmonary artery stenosis, Phenotypic variability, Platybasia, Pointed chin, Posterior embryotoxon, Premature loss of teeth, Prominent occiput, Proteinuria, Pulmonic stenosis, Recurrent fractures, Renal cyst, Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Scoliosis, Short distal phalanx of finger, Short nail, Short neck, Short stature, Short toe, Skeletal dysplasia, Synophrys, Tall lumbar vertebral bodies, Telecanthus, Tetralogy of Fallot, Thick eyebrow, Thin vermilion border, Triangular face, Umbilical hernia, Vertebral compression fractures, Wide nose, Wormian bones
RG-div2	NRG1	1.456884691	0	Growth factor	BrainSpLMD|3084;Eurexp|euxassay_007625|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, olfactory, testis, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|84285	SFARI||Autism, 5 - Hypothesized but untested;OMIM|142445;COSMIC||NSCLC
RG-div2	NBPF14	1.452297833	0	Unclassified		OMIM|614003
RG-div2	VIM	1.450708399	0	Cytoskeletal protein	BrainSpLMD|7431	OMIM|193060;HPO|7431|Autosomal dominant inheritance, Congenital onset, Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract
RG-div2	COL27A1	1.445502138	0	Extracellular matrix protein	BrainSpLMD|85301;Eurexp|euxassay_016233|Meckel's cartilage, axial skeleton, clavicle, cricoid, exoccipital bone, femur, fibula, hyoid bone, lung, mesenchyme, metatarsus, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, rib, sternum, temporal bone, thyroid, tibia, trachea, turbinate, vibrissa	OMIM|608461;HPO|85301|Autosomal recessive inheritance, Dislocated radial head, Hypertelorism, Prominent forehead, Scoliosis, Short stature, Wide nasal bridge
RG-div2	ORC6	1.444180953	0	DNA binding protein	BrainSpLMD|23594;Eurexp|euxassay_007673|cortex, incisor, left, mandible, molar, right, submandibular gland primordium, ventricular layer	OMIM|607213;HPO|23594|Abnormality of epiphysis morphology, Abnormality of the ribs, Absent sternal ossification, Anotia, Aplasia/Hypoplasia of the patella, Aplastic clavicles, Atresia of the external auditory canal, Autosomal recessive inheritance, Birth length less than 3rd percentile, Breast hypoplasia, Bronchomalacia, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Coxa vara, Craniosynostosis, Cryptorchidism, Delayed skeletal maturation, Downslanted palpebral fissures, Dyspnea, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Genu varum, High, narrow palate, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypospadias, Intrauterine growth retardation, Joint hyperflexibility, Laryngomalacia, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Micropenis, Microretrognathia, Microtia, Microtia, third degree, Narrow chest, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Prominent nasal bridge, Recurrent pneumonia, Respiratory distress, Respiratory failure, Retrognathia, Scrotal hypoplasia, Severe short stature, Short ribs, Short thorax, Slender long bone, Talipes equinovarus, Thick lower lip vermilion, Tracheomalacia, Triangular face
RG-div2	HEG1	1.441594067	0	Calcium binding protein	BrainSpLMD|57493;Eurexp|euxassay_005510|ventricular layer	OMIM|614182
RG-div2	GGCT	1.438202476	0	Unclassified	BrainSpLMD|79017	OMIM|137170
RG-div2	ID4	1.437279093	0	Transcription regulatory protein	BrainSpLMD|3400;BrainSpMouseDev|15677	OMIM|600581
RG-div2	TAGLN2	1.435815017	0	Unclassified	BrainSpLMD|8407;Eurexp|euxassay_001884|ventricular layer;BrainSpMouseDev|21107	OMIM|604634
RG-div2	SFRP1	1.430534298	0	Secreted polypeptide	BrainSpLMD|6422;BrainSpMouseDev|20140	OMIM|604156
RG-div2	FAM111B	1.429432942	0	Unclassified	BrainSpLMD|374393	OMIM|615584;HPO|374393|Alopecia, Autosomal dominant inheritance, Elevated serum creatine phosphokinase, Hepatomegaly, Hypohidrosis, Poikiloderma, Skeletal muscle atrophy
RG-div2	CDON	1.421490525	0	Cell surface receptor	BrainSpLMD|50937;BrainSpMouseDev|37081	OMIM|608707;HPO|50937|Agenesis of corpus callosum, Autosomal dominant inheritance, Cleft lip, Cleft palate, Delayed puberty, Ectopic posterior pituitary, Failure to thrive, Global developmental delay, Holoprosencephaly, Hypoglycemia, Hypoplasia of penis, Hypotelorism, Hypothyroidism, Microcephaly, Polysplenia, Proptosis, Short stature, Sporadic, Synophrys, Thick eyebrow, Variable expressivity
RG-div2	DUT	1.416488334	0	Enzyme: Hydrolase	BrainSpLMD|1854	OMIM|601266
RG-div2	CHEK1	1.415811098	0	Serine/threonine kinase	BrainSpLMD|1111	OMIM|603078
RG-div2	GMNN	1.412879264	0	Cell cycle control protein	BrainSpLMD|51053;Eurexp|euxassay_013652|cortex, incisor, lobe, lung, molar, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|602842;HPO|51053|Abnormality of epiphysis morphology, Abnormality of the ribs, Anotia, Aplastic clavicles, Atresia of the external auditory canal, Autosomal dominant inheritance, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Conductive hearing impairment, Craniosynostosis, Cryptorchidism, Delayed puberty, Delayed skeletal maturation, Depressed nasal ridge, Failure to thrive, Feeding difficulties, Growth hormone deficiency, High, narrow palate, Hip dysplasia, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Microtia, third degree, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Recurrent respiratory infections, Respiratory distress, Respiratory failure, Retrognathia, Severe short stature, Short middle phalanx of finger, Slender long bone, Stenosis of the external auditory canal, Umbilical hernia
RG-div2	YAP1	1.412339287	0	Transcription regulatory protein	BrainSpLMD|10413	OMIM|606608;HPO|10413|Autosomal dominant inheritance, Bilateral cleft lip and palate, Chorioretinal coloboma, Hematuria, Intellectual disability, Iris coloboma, Microphthalmia, Sensorineural hearing impairment
RG-div2	PEA15	1.412235499	0	Transport/cargo protein	BrainSpLMD|8682;Eurexp|euxassay_011580|neural retina, ventral grey horn, ventricular layer	OMIM|603434
RG-div2	PDLIM3	1.409231909	0	Unclassified	BrainSpLMD|27295	OMIM|605889
RG-div2	RPA1	1.403447819	0	DNA binding protein	BrainSpLMD|6117;Eurexp|euxassay_008207|ventricular layer	OMIM|179835
RG-div2	ZFP36L1	1.400300273	0	Transcription factor	BrainSpLMD|677;Eurexp|euxassay_007310|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|11978	OMIM|601064
RG-div2	PBK	1.392519818	0	Serine/threonine kinase	BrainSpLMD|55872;Eurexp|euxassay_018747|adrenal gland, cervical, cervico-thoracic, incisor, liver, mandible, marginal layer, maxilla, metanephros, molar, naris, neural retina, olfactory, pancreas, sublingual gland primordium, thoracic, thymus primordium, thyroid, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|611210
RG-div2	GINS1	1.39244898	0	Unclassified	BrainSpLMD|9837	OMIM|610608
RG-div2	PHLPP1	1.383920238	0	Unclassified	BrainSpLMD|23239;Eurexp|euxassay_010722|ventricular layer	OMIM|609396
RG-div2	MCM3	1.377447547	0	DNA binding protein	BrainSpLMD|4172;Eurexp|euxassay_001694|marginal layer, ventricular layer	OMIM|602693
RG-div2	GALNT16	1.376347304	0	Enzyme: Galactosyltransferase	Eurexp|euxassay_011719|floor plate, floorplate, mantle layer, mesenchyme, ventral grey horn, ventricular layer	OMIM|615132
RG-div2	HELLS	1.375104601	0	DNA binding protein	BrainSpLMD|3070	OMIM|603946;HPO|3070|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Congenital onset, Decreased antibody level in blood, Depressed nasal bridge, Epicanthus, Global developmental delay, Hypertelorism, Intellectual disability, Lymphopenia, Macrocephaly, Malabsorption, Micrognathia, Recurrent infections, Recurrent respiratory infections, Short stature
RG-div2	DENND1A	1.373189206	0	Unclassified	BrainSpLMD|57706	OMIM|613633
RG-div2	STON2	1.368087996	0	Unclassified	BrainSpLMD|85439	OMIM|608467
RG-div2	CNTLN	1.367090524	0	Unclassified	BrainSpLMD|54875	OMIM|611870
RG-div2	ZNF730	1.365374493	0			
RG-div2	OTX1	1.355185279	0	Transcription factor	BrainSpLMD|5013;Eurexp|euxassay_004727|brain, conjunctival sac, dorsal root ganglion, epithelium, glossopharyngeal IX, incisor, naris, naso-lacrimal duct, neural retina, olfactory, oral epithelium, respiratory, spinal cord, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|18190	SFARI||Autism, 4 - Minimal evidence;OMIM|600036
RG-div2	PTPRG	1.355163605	0	Receptor tyrosine phosphatase	BrainSpLMD|5793	OMIM|176886
RG-div2	BCAN	1.351248595	0	Adhesion molecule	BrainSpLMD|63827;Eurexp|euxassay_018187|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|11818	OMIM|600347
RG-div2	SOAT1	1.344139049	0	Enzyme: Acyltransferase	BrainSpLMD|6646;Eurexp|euxassay_004596|adrenal gland, calyces, loop, midgut, stomach, turbinate bones	OMIM|102642
RG-div2	MLC1	1.342218956	0	Membrane transport protein	BrainSpLMD|23209;Eurexp|euxassay_010374|ventricular layer	OMIM|605908;HPO|23209|Ataxia, Autosomal recessive inheritance, Diffuse spongiform leukoencephalopathy, Diffuse swelling of cerebral white matter, Infantile onset, Intellectual disability, mild, Macrocephaly, Megalencephaly, Motor delay, Seizures, Spasticity
RG-div2	PTPRF	1.341225673	0	Receptor tyrosine phosphatase	BrainSpLMD|5792	OMIM|179590;HPO|5792|Absent nipple, Autosomal recessive inheritance, Broad nasal tip, Small earlobe, Smooth philtrum
RG-div2	CDCA7L	1.33449933	0	Transcription factor	BrainSpLMD|55536;Eurexp|euxassay_003467|adenohypophysis, epidermis, fundus region, glomeruli, hindgut, left lung, lobe, lumen, lung, marginal layer, midgut, neural retina, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, respiratory, right lung, stomach, submandibular gland primordium, testis, thymus primordium, trachea, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|85297	OMIM|609685
RG-div2	CREB5	1.332803688	0	Transcription factor	BrainSpLMD|9586;Eurexp|euxassay_016386|axial skeleton, oral epithelium	
RG-div2	RRM1	1.332116817	0	Cell cycle control protein	BrainSpLMD|6240;Eurexp|euxassay_018692|cortex, incisor, lobe, lung, mandible, marginal layer, mesenchyme, molar, neural retina, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|180410
RG-div2	LITAF	1.331291992	0	Transcription factor	BrainSpLMD|9516;Eurexp|euxassay_013657|axial skeleton, incisor, molar, submandibular gland primordium, urethra, ventricular layer, vestibular component, vibrissa	OMIM|603795;HPO|9516|Autosomal dominant inheritance, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Juvenile onset, Onion bulb formation, Pes cavus, Segmental peripheral demyelination/remyelination
RG-div2	AC253572.1	1.317512345	0			
RG-div2	PLAGL1	1.31568119	0	Transcription regulatory protein	BrainSpLMD|5325;BrainSpMouseDev|22391	OMIM|603044;HPO|5325|Abnormality of earlobe, Abnormality of the pancreatic islet cells, Arthrogryposis multiplex congenita, Bilateral ptosis, Cardiomegaly, Contractures of the joints of the lower limbs, Cryptorchidism, Dehydration, Downturned corners of mouth, Failure to thrive, Generalized myoclonic seizures, Gingival overgrowth, Global developmental delay, Glycosuria, Hepatomegaly, High palate, Hyperglycemia, Hypoplastic fingernail, Hypovolemia, Intellectual disability, Intrauterine growth retardation, Ketonuria, Labial hypertrophy, Macroglossia, Micrognathia, Motor delay, Neonatal insulin-dependent diabetes mellitus, Neonatal respiratory distress, Oligohydramnios, Postnatal growth retardation, Precocious puberty, Prominent metopic ridge, Prominent nose, Prominent occiput, Retrognathia, Shallow orbits, Small anterior fontanelle, Transient neonatal diabetes mellitus, Umbilical hernia, Ventricular septal defect, Weight loss
RG-div2	LRIG3	1.30735068	0	Unclassified	BrainSpLMD|121227	OMIM|608870;COSMIC||NSCLC
RG-div2	DIO2	1.296569035	0	Enzyme: Oxidoreductase	BrainSpLMD|1734	OMIM|601413
RG-div2	MCM10	1.293986433	0	DNA binding protein	BrainSpLMD|55388	OMIM|609357
RG-div2	ITGB8	1.28932413	0	Cell surface receptor	BrainSpLMD|3696;Eurexp|euxassay_011385|axial skeleton, brachial plexus, nasal cavity, optic chiasma, optic nerve, phalanx, submandibular gland primordium, testis, valve, ventricular layer, vibrissa;BrainSpMouseDev|107845	OMIM|604160
RG-div2	B3GAT2	1.286415272	0	Enzyme: Transferase;Integral membrane protein	BrainSpLMD|135152;BrainSpMouseDev|93607	OMIM|607497
RG-div2	VEPH1	1.283183457	0	Unclassified	BrainSpLMD|79674	OMIM|609594
RG-div2	TTYH3	1.282549246	0	Ion channel	BrainSpLMD|80727	OMIM|608919
RG-div2	NOTCH3	1.279313261	0	Cell surface receptor	BrainSpLMD|4854;BrainSpMouseDev|17898	OMIM|600276;HPO|4854|Abnormal electroretinogram, Abnormal form of the vertebral bodies, Abnormality of the hair, Abnormality of the metaphysis, Abnormality of the middle ear ossicles, Abnormality of the musculature, Abnormality of the rib cage, Abnormality of the skin, Abnormality of the skull, Abnormality of the thorax, Abnormality of visual evoked potentials, Adult onset, Amaurosis fugax, Aphasia, Arachnoid cyst, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Autosomal dominant inheritance, Biconcave vertebral bodies, Bone cyst, Cerebral cortical atrophy, Cerebral ischemia, Chondrocalcinosis, Coarse hair, Coma, Conductive hearing impairment, Confusion, Cranial nerve paralysis, Craniofacial hyperostosis, Cryptorchidism, Dementia, Dental crowding, Depressivity, Developmental regression, Dolichocephaly, Downslanted palpebral fissures, Dural ectasia, EEG abnormality, Elevated serum creatine phosphokinase, Fever, Gait disturbance, Generalized hypotonia, Gingival fibromatosis, Hemiplegia, High palate, High, narrow palate, Hypertelorism, Impaired pain sensation, Inguinal hernia, Joint hyperflexibility, Joint hypermobility, Kyphosis, Leukoencephalopathy, Long philtrum, Low posterior hairline, Low-set ears, Malar flattening, Memory impairment, Meningocele, Micrognathia, Migraine, Motor delay, Narrow face, Neoplasm of the lung, Neoplasm of the skin, Nonarteritic anterior ischemic optic neuropathy, Patent ductus arteriosus, Pectus excavatum, Platybasia, Posteriorly rotated ears, Prominent metopic ridge, Pseudobulbar paralysis, Ptosis, Recurrent subcortical infarcts, Retinal arteriolar tortuosity, Sclerosis of skull base, Scoliosis, Seizures, Sensory neuropathy, Short nasal bridge, Short neck, Short stature, Smooth philtrum, Spasticity, Stroke, Subcortical dementia, Subcutaneous nodule, Syringomyelia, Umbilical hernia, Urinary incontinence, Varicose veins, Vertebral fusion, Visual impairment, Wormian bones
RG-div2	FKBP10	1.273827355	0	Unclassified	BrainSpLMD|60681	OMIM|607063;HPO|60681|Abnormality of the skin, Ankle contracture, Aplasia/Hypoplasia of the patella, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Biconcave vertebral bodies, Blue sclerae, Brachycephaly, Coxa vara, Dentinogenesis imperfecta, Elbow flexion contracture, Elevated alkaline phosphatase, Gait disturbance, Hip contracture, Increased susceptibility to fractures, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Protrusio acetabuli, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes, Talipes equinovarus, Triangular face, Vertebral compression fractures, Vertebral wedging, Wormian bones
RG-div2	DHFR	1.273773456	0	Enzyme: Oxidoreductase		OMIM|126060;HPO|1719|Absence seizures, Ataxia, Autosomal recessive inheritance, Cerebral atrophy, Delayed myelination, Eyelid myoclonus, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hepatomegaly, Jaundice, Megaloblastic anemia, Pallor, Pancytopenia, Poor head control, Postnatal microcephaly, Thrombocytopenia, Variable expressivity
RG-div2	HEATR5A	1.272356729	0	Unclassified	BrainSpLMD|25938;Eurexp|euxassay_011074|glossopharyngeal IX, mantle layer, neural retina, trigeminal V, ventricle	
RG-div2	FANCD2	1.270082264	0	Cell cycle control protein	BrainSpLMD|2177	OMIM|613984;COSMIC||AML, leukaemia;HPO|2177|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of skin pigmentation, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anemia, Anemic pallor, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bruising susceptibility, Cafe-au-lait spot, Chromosomal breakage induced by crosslinking agents, Complete duplication of thumb phalanx, Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Duplicated collecting system, Ectopic kidney, Esophageal atresia, Global developmental delay, Hearing impairment, Horseshoe kidney, Hypergonadotropic hypogonadism, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukemia, Leukopenia, Microcephaly, Microphthalmia, Neutropenia, Pancytopenia, Prolonged G2 phase of cell cycle, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Reticulocytopenia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Small for gestational age, Strabismus, Thrombocytopenia, Tracheoesophageal fistula
RG-div2	MDM1	1.266039181	0	Unclassified	BrainSpLMD|56890	OMIM|613813
RG-div2	TTYH1	1.265489571	0	Ion channel	BrainSpLMD|57348;Eurexp|euxassay_018316|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|37048	OMIM|605784
RG-div2	SHROOM3	1.260727115	0	Adapter molecule	BrainSpLMD|57619;Eurexp|euxassay_012216|cortex, midgut, olfactory, ventricular layer, vertebral axis muscle system	OMIM|604570
RG-div2	SEL1L3	1.254390693	0	Integral membrane protein	BrainSpLMD|23231;Eurexp|euxassay_002775|basal plate, calyces, cerebral cortex, corpus striatum, cortex, dorsal root ganglion, ductus deferens, foregut-midgut junction, glossopharyngeal IX, hindgut, marginal layer, midgut, rectum, stomach, submandibular gland primordium, trigeminal V, urethra, vestibulocochlear VIII	
RG-div2	GATM	1.249777519	0	Enzyme: Amidinotransferase	BrainSpLMD|2628;Eurexp|euxassay_005674|diaphragm, footplate, frenulum, handplate, lower leg, paraxial mesenchyme, shoulder, skeletal muscle, upper arm, upper leg, vertebral axis muscle system	SFARI||Autism, No category;OMIM|602360;HPO|2628|Abnormality of creatine metabolism, Autism, Autosomal recessive inheritance, Delayed speech and language development, Failure to thrive, Global developmental delay, Infantile onset, Intellectual disability, Organic aciduria
RG-div2	FABP7	1.235484553	0	Transport/cargo protein	BrainSpLMD|2173;Eurexp|euxassay_000474|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, olfactory, rest of cerebellum, trigeminal V, ventral grey horn, ventricular layer	SFARI||Autism, 6 - Evidence does not support role;OMIM|602965
RG-div2	C19orf48	1.233330018	0	Unclassified	BrainSpLMD|84798	
RG-div2	DARS	1.230167797	0	ATPase	BrainSpLMD|1615	OMIM|603084;HPO|1615|Autosomal recessive inheritance, Babinski sign, CNS hypomyelination, Hyperreflexia, Hypoplasia of the corpus callosum, Infantile onset, Leukoencephalopathy, Motor delay, Muscular hypotonia of the trunk, Nystagmus, Progressive, Spasticity
RG-div2	SLITRK2	1.229910528	0	Integral membrane protein	BrainSpLMD|84631;Eurexp|euxassay_012159|dorsal root ganglion, facial VII, glossopharyngeal IX, marginal layer, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|300561
RG-div2	HEY1	1.228738825	0	Transcription factor	BrainSpLMD|23462;Eurexp|euxassay_005307|calyces, mandible, maxilla, olfactory, orbito-sphenoid, pituitary, respiratory, thymus primordium, ventricular layer;BrainSpMouseDev|14989	OMIM|602953;COSMIC||mesenchymal chondrosarcoma
RG-div2	CD99	1.228528101	0	Unclassified		OMIM|450000
RG-div2	SMC2	1.212427054	0	Unclassified	BrainSpLMD|10592;Eurexp|euxassay_011062|cortex, dorsal grey horn, incisor, lobe, lung, marginal layer, molar, orbito-sphenoid, submandibular gland primordium, thymus primordium, turbinate bones, ventral grey horn, ventricular layer, vibrissa	OMIM|605576
RG-div2	CENPU	1.210804385	0	Unclassified	BrainSpLMD|79682	OMIM|611511
RG-div2	IQGAP2	1.207392074	0	GTPase activating protein	BrainSpLMD|10788;Eurexp|euxassay_013405|adrenal gland, incisor, intervertebral disc, lobe, mandible, mesenchyme, metanephros, midgut, oesophagus, skeletal muscle, stomach, thymus primordium, ventricular layer, vertebral axis muscle system, vertebral cartilage condensation	OMIM|605401
RG-div2	BARD1	1.207026584	0	Transcription regulatory protein	BrainSpLMD|580	OMIM|601593;COSMIC||breast cancer, ovarian cancer, breast cancer, endometrioid cancer;HPO|580|Abnormality of the fallopian tube, Breast carcinoma, Ovarian neoplasm, Primary peritoneal carcinoma
RG-div2	ZFHX4	1.205640175	0	Transcription factor	BrainSpLMD|79776;Eurexp|euxassay_005820|epidermis, mantle layer, nasal septum, urethra;BrainSpMouseDev|56662	OMIM|606940;HPO|79776|Autosomal dominant inheritance, Congenital ptosis
RG-div2	DDAH1	1.205335318	0	Enzyme: Hydrolase	BrainSpLMD|23576;Eurexp|euxassay_003952|mantle layer, ventral grey horn, ventricular layer	OMIM|604743
RG-div2	PON2	1.199800516	0	Enzyme: Esterase	BrainSpLMD|5445	OMIM|602447;HPO|5445|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
RG-div2	PAQR8	1.198376102	0	Integral membrane protein	BrainSpLMD|85315	OMIM|607780
RG-div2	ZIC2	1.195472878	0	Transcription regulatory protein	BrainSpLMD|7546;BrainSpMouseDev|22529	OMIM|603073;HPO|7546|Abnormal facial shape, Autosomal dominant inheritance, Global developmental delay, Holoprosencephaly, Hydrocephalus, Intellectual disability, Microcephaly, Synophrys, Trigonocephaly
RG-div2	COL9A1	1.179643794	0	Extracellular matrix protein	BrainSpLMD|1297;Eurexp|euxassay_011520|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, hyoid bone, mandible, maxilla, metacarpus, metatarsus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, radius, rib, scapula, sternum, submandibular gland primordium, temporal bone, thyroid, tibia, trachea, turbinate, ulna, vault of skull;BrainSpMouseDev|12622	OMIM|120210;HPO|1297|Abnormality of epiphysis morphology, Abnormality of the knee, Amblyopia, Arthralgia, Arthralgia of the hip, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Childhood onset, Cleft palate, Degenerative vitreoretinopathy, Epiphyseal dysplasia, Flat capital femoral epiphysis, Flat distal femoral epiphysis, Flat face, Gait disturbance, Genu valgum, Hip dysplasia, Irregular distal femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Limitation of joint mobility, Malar flattening, Micrognathia, Micromelia, Multiple epiphyseal dysplasia, Myopia, Osteoarthritis, Platyspondyly, Retinal detachment, Schmorl's node, Sensorineural hearing impairment, Severe Myopia, Short stature, Small epiphyses, Vitreoretinal degeneration
RG-div2	FEN1	1.179473337	0	Deoxyribonuclease	BrainSpLMD|2237	OMIM|600393;COSMIC||breast cancer
RG-div2	CDK1	1.178091588	0	Serine/threonine kinase	BrainSpLMD|983	OMIM|116940
RG-div2	IFI27L2	1.16620796	0	Integral membrane protein	BrainSpLMD|83982;Eurexp|euxassay_012919|adrenal gland, testis	OMIM|611319
RG-div2	WDHD1	1.160350362	0	DNA binding protein	BrainSpLMD|11169;Eurexp|euxassay_012406|submandibular gland primordium, thymus primordium, ventricular layer;BrainSpMouseDev|85441	OMIM|608126
RG-div2	PLCE1	1.15339402	0	Guanine nucleotide exchange factor	BrainSpLMD|51196;Eurexp|euxassay_014545|floor plate, floorplate	OMIM|608414;HPO|51196|Autosomal recessive inheritance, Childhood onset, Diffuse mesangial sclerosis, Edema, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Progressive, Proteinuria, Stage 5 chronic kidney disease
RG-div2	DBI	1.152667555	0	Ligand	BrainSpLMD|1622;BrainSpMouseDev|12947	OMIM|125950
RG-div2	AKAP12	1.150329538	0	Anchor protein	BrainSpLMD|9590	OMIM|604698
RG-div2	CLU	1.140173318	0	Complement protein	BrainSpLMD|1191;BrainSpMouseDev|12543	OMIM|185430
RG-div2	SPATA13	1.131559504	0	Unclassified	BrainSpLMD|221178;Eurexp|euxassay_009443|ventricular layer	OMIM|613324
RG-div2	PTGFRN	1.131533888	0	Integral membrane protein	BrainSpLMD|5738;Eurexp|euxassay_007366|axial skeleton, clavicle, floor plate, floorplate, lung, mantle layer, mesenchyme, palatal shelf, penis, sternum, submandibular gland primordium, ventricular layer, vibrissa	OMIM|601204
RG-div2	SALL1	1.129120945	0	Transcription factor	BrainSpLMD|6299;Eurexp|euxassay_000198|basal columns, corpus striatum, epithelium, floor plate, floorplate, glomeruli, handplate, head mesenchyme, intermediate grey horn, isthmus, lateral wall, mantle layer, marginal layer, medulla oblongata, mesenchyme, olfactory, pars tuberalis, penis, skin, telencephalon, thyroid, ventral grey horn, ventricular layer;BrainSpMouseDev|37230	OMIM|602218;HPO|6299|2-3 toe syndactyly, 3-4 finger syndactyly, 3-4 toe syndactyly, Anal atresia, Anal stenosis, Anteriorly placed anus, Aplasia/Hypoplasia of the 3rd toe, Autosomal dominant inheritance, Bifid scrotum, Bifid uterus, Broad thumb, Chorioretinal coloboma, Clinodactyly of the 5th finger, Constipation, Cryptorchidism, Duodenal atresia, External ear malformation, Gastroesophageal reflux, Hearing impairment, Hypospadias, Hypothyroidism, Intellectual disability, Macrotia, Metatarsal synostosis, Microcephaly, Microtia, Overfolded helix, Overfolding of the superior helices, Partial duplication of thumb phalanx, Pes planus, Preauricular skin tag, Preaxial hand polydactyly, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Rectovaginal fistula, Renal insufficiency, Satyr ear, Short metatarsal, Stahl ear, Subcutaneous nodule, Tetralogy of Fallot, Toe clinodactyly, Triphalangeal thumb, Umbilical hernia, Urethral valve, Ventricular septal defect
RG-div2	DOK5	1.128233477	0	Adapter molecule	BrainSpLMD|55816	OMIM|608334
RG-div2	PTPRZ1	1.124010538	0	Receptor tyrosine phosphatase	BrainSpLMD|5803;BrainSpMouseDev|19046	OMIM|176891
RG-div2	TMEM98	1.119476872	0	Integral membrane protein	BrainSpLMD|26022	OMIM|615949;HPO|26022|Abnormality of the choroid, Autosomal dominant inheritance, Glaucoma, High-grade hypermetropia, Microphthalmia, Strabismus
RG-div2	SOX2	1.118791095	0	Transcription factor	Eurexp|euxassay_019525|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lung, mantle layer, medulla, midgut, neural retina, oesophagus, olfactory, oral epithelium, pituitary, saccule, stomach, testis, trachea, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|20436	OMIM|184429;COSMIC||NSCLC, oesophageal squamous carcinoma, Microphthalmia and oesophageal atresia syndrome;HPO|6657|Agenesis of corpus callosum, Anophthalmia, Anterior pituitary hypoplasia, Autosomal dominant inheritance, Butterfly vertebrae, Cleft palate, Coloboma, Cryptorchidism, Esophageal atresia, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hemivertebrae, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypospadias, Hypothalamic hamartoma, Microcephaly, Micropenis, Microphthalmia, Missing ribs, Nystagmus, Optic nerve hypoplasia, Patent ductus arteriosus, Postnatal growth retardation, Rib fusion, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Short stature, Spastic diplegia, Spastic tetraplegia, Specific learning disability, Strabismus, Supernumerary ribs, Tracheoesophageal fistula, Ventricular septal defect, Vertebral fusion, Vertebral hypoplasia, Visual impairment, Visual loss
RG-div2	CHAF1A	1.116552574	0	Chaperone	BrainSpLMD|10036	OMIM|601246
RG-div2	INTU	1.109771259	0	Unclassified	BrainSpLMD|27152	OMIM|610621
RG-div2	BMPR1B	1.108857818	0	Receptor serine/threonine kinase	BrainSpLMD|658;BrainSpMouseDev|11953	OMIM|603248;HPO|658|2-3 toe syndactyly, Abnormality of epiphysis morphology, Abnormality of the fingernails, Abnormality of the hip bone, Abnormality of the radius, Abnormality of the thumb, Abnormality of the ulna, Abnormality of tibia morphology, Aplasia of the middle phalanges of the toes, Aplasia of the proximal phalanges of the hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the 1st metacarpal, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Aplasia/Hypoplasia of the thumb, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bowing of the long bones, Brachydactyly, Bracket epiphysis of the middle phalanx of the 2nd finger, Bracket epiphysis of the middle phalanx of the 5th finger, Broad foot, Broad hallux, Carpal synostosis, Clinodactyly of the 5th finger, Complete duplication of distal phalanx of the thumb, Cone-shaped epiphysis, Delayed speech and language development, Disproportionate short-limb short stature, Fibular aplasia, Fibular hypoplasia, Hallux valgus, Hypergonadotropic hypogonadism, Hypoplasia of the ulna, Hypoplasia of the uterus, Joint stiffness, Limitation of joint mobility, Medially deviated second toe, Micromelia, Narrow nasal bridge, Poor motor coordination, Postaxial hand polydactyly, Primary amenorrhea, Pseudoepiphyses of the 2nd finger, Radial deviation of finger, Radial deviation of the 2nd finger, Sarcoma, Short 2nd finger, Short distal phalanx of the 2nd finger, Short distal phalanx of the thumb, Short femoral neck, Short finger, Short foot, Short hallux, Short metatarsal, Short middle phalanx of finger, Short middle phalanx of the 5th finger, Short phalanx of finger, Short proximal phalanx of finger, Short proximal phalanx of thumb, Short stature, Short thumb, Short tibia, Short toe, Skeletal dysplasia, Stippling of the epiphysis of the distal phalanx of the thumb, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Triangular shaped middle phalanx of the 2nd finger, Triangular shaped middle phalanx of the 5th finger, Type A2 brachydactyly, Type C brachydactyly, Ulnar deviation of finger, Ulnar deviation of the 2nd finger, Widened proximal tibial metaphyses
RG-div2	POLD3	1.10393118	0	DNA polymerase	BrainSpLMD|10714;Eurexp|euxassay_007336|embryo	OMIM|611415
RG-div2	FGFR1	1.103927852	0	Receptor tyrosine kinase	BrainSpLMD|2260;BrainSpMouseDev|13959	OMIM|136350;COSMIC||MPN, NHL, salivary adenoma, Pfeiffer syndrome, Kallman syndrome;HPO|2260|2-3 toe syndactyly, Abnormal form of the vertebral bodies, Abnormality of body height, Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Abnormality of the clavicle, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Absent septum pellucidum, Agenesis of corpus callosum, Alopecia, Anosmia, Anterior hypopituitarism, Anterior pituitary hypoplasia, Anteverted nares, Anxiety, Aphasia, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Arachnoid cyst, Arnold-Chiari malformation, Atrial septal defect, Autosomal dominant inheritance, Bicoronal synostosis, Bimanual synkinesia, Bone cyst, Bowing of the long bones, Brachycephaly, Brachyturricephaly, Breast hypoplasia, Broad foot, Broad hallux, Broad hallux phalanx, Broad metacarpals, Broad metatarsal, Broad palm, Broad phalanx, Broad thumb, Bronchomalacia, Calcaneonavicular fusion, Capillary hemangiomas, Cartilaginous trachea, Cerebellar hypoplasia, Cerebral calcification, Cerebral cortical atrophy, Choanal atresia, Choanal stenosis, Chordee, Cleft eyelid, Cleft palate, Cleft upper lip, Cloverleaf skull, Corneal opacity, Coronal craniosynostosis, Cortical dysplasia, Craniofacial hyperostosis, Craniosynostosis, Cryptorchidism, Dandy-Walker malformation, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Depressivity, Diabetes insipidus, Downslanted palpebral fissures, Dysphasia, Echolalia, Ectrodactyly, Elbow ankylosis, Encephalocele, Epibulbar dermoid, Epicanthus, Erectile abnormalities, Eunuchoid habitus, Failure to thrive, Failure to thrive in infancy, Female hypogonadism, Finger syndactyly, Frontal bossing, Global developmental delay, Gonadotropin deficiency, Gynecomastia, Hallux varus, Hemiplegia/hemiparesis, Heterogeneous, High forehead, High palate, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hypernatremia, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the frontal bone, Hypoplasia of the iris, Hypoplasia of the maxilla, Hypoplasia of the ovary, Hypoplasia of the uterus, Hypoplastic scapulae, Hypoplastic toenails, Hyposmia, Hypospadias, Hypotelorism, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Incomplete penetrance, Increased female libido, Increased susceptibility to fractures, Inguinal hernia, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Limb undergrowth, Linear hyperpigmentation, Lipodystrophy, Lipoma, Lipomas of the central neryous system, Lobar holoprosencephaly, Long penis, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hemivertebrae, Macrocephaly, Malar flattening, Male hypogonadism, Mandibular prognathia, Meckel diverticulum, Microcephaly, Microdontia, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Multiple lipomas, Multiple unerupted teeth, Muscle stiffness, Mutism, Nasal obstruction, Neonatal hypotonia, Neoplasm of the skeletal system, Nevus flammeus, Non-midline cleft lip, Non-obstructive azoospermia, Nystagmus, Oligodontia, Omphalocele, Osteolysis, Osteopenia, Osteoporosis, Pelvic kidney, Peripheral pulmonary artery stenosis, Platyspondyly, Posteriorly rotated ears, Preauricular skin tag, Primary amenorrhea, Prominent supraorbital ridges, Proptosis, Protruding ear, Pseudoarthrosis, Ptosis, Pulmonary arterial hypertension, Reduced bone mineral density, Reduced number of teeth, Respiratory distress, Respiratory insufficiency, Retinopathy, Rhizomelia, Rigidity, Sclerocornea, Secondary amenorrhea, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Severe short stature, Shallow orbits, Short foot, Short hallux, Short metacarpal, Short metatarsal, Short middle phalanx of toe, Short neck, Short nose, Short palm, Short phalanx of finger, Short stature, Shortening of all middle phalanges of the fingers, Somatic mosaicism, Sparse body hair, Spasticity, Split hand, Sporadic, Strabismus, Subcortical cerebral atrophy, Subcutaneous lipoma, Subcutaneous nodule, Subvalvular aortic stenosis, Syndactyly, Synophrys, Telecanthus, Toe syndactyly, Tricuspid valve prolapse, Trigonocephaly, Unerupted tooth, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide intermamillary distance, Wide nasal bridge, Wide nose, Xanthomatosis
RG-div2	GNG5	1.103616872	0	G protein	BrainSpLMD|2787;Eurexp|euxassay_007798|embryo	OMIM|600874
RG-div2	TMEM170A	1.101528405	0	Unclassified	BrainSpLMD|124491	
RG-div2	NBPF10	1.08323498	0			OMIM|614000
RG-div2	FAT1	1.076291786	0	Adhesion molecule	BrainSpLMD|2195;Eurexp|euxassay_013462|axial skeleton, lung, mandible, maxilla, mesenchyme, rest of mesenchyme, sternum, submandibular gland primordium, vibrissa;BrainSpMouseDev|13884	SFARI||Autism, No category;OMIM|600976;COSMIC||oral squamous cell, chemorefractory CLL, head and neck, pancreatic acinar cell carcinoma, pancreatic
RG-div2	SCD	1.074406507	0	Enzyme: Oxidoreductase	BrainSpLMD|6319;Eurexp|euxassay_012236|adrenal gland, axial skeleton, basal columns, cervico-thoracic, clavicle, dorsal root ganglion, ductus deferens, embryo, facial VII, glossopharyngeal IX, hindgut, incisor, larynx, lens, lobe, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, neural retina, nucleus pulposus, orbito-sphenoid, otic capsule, pancreas, petrous part, pharyngo-tympanic tube, pituitary, rectum, rib, skeletal muscle, stomach, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, turbinate, urethra, vagus X, vault of skull, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|604031
RG-div2	SCRN1	1.070375744	0	Protease	BrainSpLMD|9805;Eurexp|euxassay_012592|cervical, cervico-thoracic, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, mantle layer, marginal layer, neural retina, olfactory, penis, thoracic, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII	OMIM|614965
RG-div2	FOS	1.063274366	0	Transcription factor	BrainSpLMD|2353;Eurexp|euxassay_012634|mandible, maxilla;BrainSpMouseDev|14058	OMIM|164810;HPO|2353|Abnormality of skin pigmentation, Acanthosis nigricans, Accelerated skeletal maturation, Bone cyst, Broad foot, Diabetes mellitus, Generalized hirsutism, Growth hormone excess, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hyperinsulinemia, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Insulin resistance, Intellectual disability, Large hands, Lipoatrophy, Mandibular prognathia, Precocious puberty, Prominent supraorbital ridges, Skeletal muscle hypertrophy
RG-div2	ATP1B2	1.061414468	0	ATPase	BrainSpLMD|482;Eurexp|euxassay_011653|lobe, pituitary, ventral grey horn, ventricular layer;BrainSpMouseDev|11718	OMIM|182331
RG-div2	GPR98	1.058808588	0			
RG-div2	RPA2	1.051293558	0	DNA binding protein	BrainSpLMD|6118;Eurexp|euxassay_004500|marginal layer, ventricular layer	OMIM|179836
RG-div2	FAM161A	1.05054647	0	Unclassified	Eurexp|euxassay_013156|choroid invagination, choroid plexus, roof plate	OMIM|613596;HPO|84140|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
RG-div2	CDK6	1.047706055	0	Cell cycle control protein	BrainSpLMD|1021	OMIM|603368;COSMIC||ALL;HPO|1021|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Cortical gyral simplification, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
RG-div2	ZFP36L2	1.046783036	0	Transcription factor	BrainSpLMD|678	OMIM|612053
RG-div2	PCNA	1.04086425	0	Cell cycle control protein	BrainSpLMD|5111;Eurexp|euxassay_005732|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, spinal cord, ventricular layer	OMIM|176740;HPO|5111|Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Conjunctival telangiectasia, Cutaneous photosensitivity, Dysarthria, Dysphagia, Global developmental delay, Muscle weakness, Neurodegeneration, Pes cavus, Photophobia, Progressive, Progressive muscle weakness, Short stature, Unsteady gait
RG-div2	SRI	1.039278178	0	Calcium binding protein	BrainSpLMD|6717	OMIM|182520
RG-div2	RFX4	1.038438463	0	DNA binding protein	BrainSpLMD|5992;Eurexp|euxassay_005798|ventricular layer;BrainSpMouseDev|46978	OMIM|603958
RG-div2	ALDH6A1	1.03462067	0	Enzyme: Dehydrogenase	BrainSpLMD|4329;Eurexp|euxassay_018815|choroid invagination, naris, nasal septum, otic capsule, turbinate bones, ventricular layer	OMIM|603178;HPO|4329|Abnormal facial shape, Autosomal recessive inheritance, Bulbous nose, Cataract, Delayed myelination, Depressed nasal bridge, Downslanted palpebral fissures, Dystonia, Epicanthus, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Long philtrum, Metabolic acidosis, Microcephaly, Microphthalmia, Muscular hypotonia, Phenotypic variability, Short nose, Tented upper lip vermilion
RG-div2	PHLDA1	1.033653312	0	Transcription factor	BrainSpLMD|22822;Eurexp|euxassay_008411|anterior, axial skeleton, bladder, cartilaginous ring, cornea, diaphragm, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, hepatic duct, hindgut, incisor, inner ear, left lung, liver, mantle layer, medulla, meninges, metanephros, midgut, molar, naso-lacrimal duct, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, right lung, skeletal muscle, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, tongue, trigeminal V, ureter, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|605335
RG-div2	PAICS	1.028804559	0	Enzyme: Carboxylase	BrainSpLMD|10606;Eurexp|euxassay_018936|marginal layer, nucleus pulposus, submandibular gland primordium, ventricular layer, vibrissa	OMIM|172439
RG-div2	RFC1	1.017483349	0	DNA binding protein	BrainSpLMD|5981	OMIM|102579
RG-div2	MDK	1.016747145	0	Cytokine	BrainSpLMD|4192;Eurexp|euxassay_000525|anal region, gut, head mesenchyme, lung, mesenchyme, metanephros, penis, physiological umbilical hernia, spleen primordium, trunk mesenchyme, ventricular layer	OMIM|162096
RG-div2	DUSP10	1.011877525	0	Enzyme: Phosphatase;Enzyme: Phosphohydrolase	BrainSpLMD|11221	OMIM|608867
RG-div2	TMEM97	1.006874501	0	Unclassified	BrainSpLMD|27346;Eurexp|euxassay_006766|axial skeleton, clavicle, cranium, digit 1, digit 2, digit 3, digit 4, digit 5, femur, fibula, handplate, humerus, incisor, liver, mandible, maxilla, naris, pancreas, petrous part, radius, rib, scapula, submandibular gland primordium, tibia, turbinate bones, ulna, vibrissa	OMIM|612912
RG-div2	FUT9	0.992014931	0	Enzyme: Fucosyltransferase	BrainSpLMD|10690	OMIM|606865
RG-div2	AXL	0.991220013	0	Receptor tyrosine kinase	BrainSpLMD|558;Eurexp|euxassay_001756|cardiovascular system, gland, head mesenchyme, integumental system, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|26110	OMIM|109135;HPO|558|Autosomal dominant inheritance, Autosomal recessive inheritance, Cryptorchidism, Decreased testicular size, Gynecomastia, Hypogonadotrophic hypogonadism, Micropenis, Primary amenorrhea, Sparse axillary hair, Sparse pubic hair
RG-div2	TYMS	0.990622597	0	Enzyme: Ligase	BrainSpLMD|7298;Eurexp|euxassay_008886|cardiovascular system, cavities and their linings, gland, integumental system, limb, marginal layer, mesenchyme, sensory organ, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|188350
RG-div2	PRIM1	0.982062789	0	RNA polymerase	BrainSpLMD|5557;Eurexp|euxassay_018061|embryo	OMIM|176635
RG-div2	EFNB1	0.978221928	0	Ligand	BrainSpLMD|1947;Eurexp|euxassay_018017|bladder, cortex, dorsal root ganglion, ductus deferens, incisor, internal capsule, lung, mesenchyme, metanephros, midgut, molar, palatal shelf, phalanx, stomach, sulcus limitans, ventricular layer, vibrissa;BrainSpMouseDev|13419	OMIM|300035;HPO|1947|Abnormality of the dentition, Abnormality of the rib cage, Axillary pterygia, Bifid nasal tip, Brachycephaly, Brachydactyly, Broad hallux, Broad hallux phalanx, Camptodactyly of finger, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Congenital pseudoarthrosis of the clavicle, Coronal craniosynostosis, Craniosynostosis, Cryptorchidism, Depressed nasal ridge, Down-sloping shoulders, Downslanted palpebral fissures, Exotropia, Facial asymmetry, Finger syndactyly, Fragile nails, Frontal bossing, Generalized hypotonia, Global developmental delay, Hand polydactyly, Hemihypotrophy of lower limb, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplastic nasal tip, Hypospadias, Intellectual disability, Joint hyperflexibility, Joint laxity, Low posterior hairline, Microcephaly, Midline defect of the nose, Muscular hypotonia, Nystagmus, Oral cleft, Pectus excavatum, Plagiocephaly, Ridged fingernail, Ridged nail, Sandal gap, Scoliosis, Sensorineural hearing impairment, Shawl scrotum, Short neck, Short stature, Split nail, Sprengel anomaly, Telecanthus, Thickened nuchal skin fold, Toe syndactyly, Umbilical hernia, Unilateral breast hypoplasia, Wide nasal bridge, Widow's peak, Woolly hair, X-linked dominant inheritance
RG-div2	SFRP2	0.976774905	0	Secreted polypeptide	BrainSpLMD|6423;BrainSpMouseDev|20082	OMIM|604157
RG-div2	TCF7L1	0.97450134	0	Transcription regulatory protein	BrainSpLMD|83439;BrainSpMouseDev|21176	OMIM|604652
RG-div2	HMGCS1	0.972368492	0	Enzyme: Synthase	BrainSpLMD|3157	OMIM|142940
RG-div2	CKS2	0.96175847	0	Cell cycle control protein	BrainSpLMD|1164	OMIM|116901
RG-div2	MFAP2	0.954323932	0	Extracellular matrix protein	BrainSpLMD|4237;Eurexp|euxassay_002967|skeleton	OMIM|156790
RG-div2	ZMAT1	0.950544603	0	DNA binding protein	BrainSpLMD|84460	OMIM|301007
RG-div2	CDCA7	0.944740234	0	Cell cycle control protein	BrainSpLMD|83879	OMIM|609937;HPO|83879|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Conductive hearing impairment, Cryptorchidism, Decreased antibody level in blood, Depressed nasal bridge, Flat face, Global developmental delay, Hypertelorism, Hypoplastic ischia, Hypospadias, Intellectual disability, Intrauterine growth retardation, Low-set ears, Lymphopenia, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Polydactyly, Recurrent respiratory infections, Short nose, Short stature, Strabismus
RG-div2	MYO10	0.944127676	0	Motor protein	BrainSpLMD|4651;Eurexp|euxassay_009373|mantle layer, marginal layer, thymus primordium, trigeminal V, ventricular layer	OMIM|601481
RG-div2	CTD.2282P23.2	0.943071346	0			
RG-div2	DTL	0.941638035	0	Unclassified	BrainSpLMD|51514;Eurexp|euxassay_012578|choroid plexus, ventricular layer	OMIM|610617
RG-div2	COL11A1	0.941466713	0	Extracellular matrix protein	BrainSpLMD|1301;Eurexp|euxassay_004200|axial skeleton, clavicle, cranium, femur, fibula, footplate, handplate, humerus, hyoid bone, mandible, nasal septum, otic capsule, palatal shelf, pelvic girdle, radius, rib, sternum, tibia, turbinate bones, ulna;BrainSpMouseDev|12597	OMIM|120280;HPO|1301|Abnormal diaphysis morphology, Abnormal form of the vertebral bodies, Abnormality of the dentition, Abnormality of the metaphysis, Abnormality of the pinna, Abnormality of the vitreous humor, Absent frontal sinuses, Amblyopia, Anterior rib cupping, Anteverted nares, Arachnodactyly, Arthralgia, Arthropathy, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bifid uvula, Brachycephaly, Brachydactyly, Broad ischia, Broad long bones, Broad ribs, Calcification of falx cerebri, Camptodactyly, Cataract, Cerebral calcification, Cleft palate, Clinodactyly of the 5th finger, Congenital cataract, Corneal opacity, Coxa valga, Depressed nasal bridge, Downslanted palpebral fissures, Dumbbell-shaped long bone, Ectopia lentis, Epicanthus, Epiphyseal dysplasia, Esotropia, Femoral bowing, Fibular hypoplasia, Flat face, Frontal bossing, Genu valgum, Glaucoma, Glossoptosis, Hearing abnormality, Hydrops fetalis, Hypertelorism, Hypohidrosis, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hypoplastic fingernail, Hypoplastic frontal sinuses, Hypoplastic ilia, Hypoplastic ischia, Hypoplastic scapulae, Hypoplastic toenails, Hypotrichosis, Irregular distal femoral epiphysis, Irregular proximal tibial epiphyses, Irregular vertebral endplates, Joint contracture of the hand, Joint hyperflexibility, Joint hypermobility, Lens luxation, Long clavicles, Long fingers, Long philtrum, Low-set ears, Macrodontia of permanent maxillary central incisor, Malar flattening, Megalocornea, Meningeal calcification, Micrognathia, Micromelia, Midface retrusion, Myopia, Narrow chest, Narrow greater sacrosciatic notches, Narrow mouth, Omphalocele, Osteoarthritis, Patent foramen ovale, Pierre-Robin sequence, Platyspondyly, Posterior rib cupping, Posterior vertebral hypoplasia, Premature birth, Proptosis, Protuberant abdomen, Radial bowing, Respiratory insufficiency, Retinal detachment, Retinopathy, Rhizomelia, Round face, Sensorineural hearing impairment, Severe Myopia, Short femur, Short foot, Short long bone, Short neck, Short nose, Short palm, Short ribs, Short stature, Small distal femoral epiphysis, Small hand, Small proximal tibial epiphyses, Spondyloepiphyseal dysplasia, Stillbirth, Thick lower lip vermilion, Thick upper lip vermilion, Thickened calvaria, Thin clavicles, Thin ribs, Thoracic hypoplasia, Ulnar bowing, Upper airway obstruction, Visual impairment, Vitreoretinal degeneration, Wide anterior fontanel, Wide nasal bridge, Wide tufts of distal phalanges, Widely patent coronal suture, Widely patent sagittal suture
RG-div2	TUBA1B	0.938722757	0	Structural protein	BrainSpLMD|10376	OMIM|602530
RG-div2	LHX2	0.919601639	0	Transcription regulatory protein	BrainSpLMD|9355;BrainSpMouseDev|16641	OMIM|603759
RG-div2	C15orf41	0.918655711	0	Unclassified	BrainSpLMD|84529;Eurexp|euxassay_005181|adenohypophysis, brain, metanephros, neural retina, retina, spinal cord, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|615626;HPO|84529|Anemia of inadequate production, Anisocytosis, Autosomal recessive inheritance, Erythroid hyperplasia, Hepatomegaly, Jaundice, Pallor, Poikilocytosis, Reticulocytosis, Splenomegaly
RG-div2	FDPS	0.917316541	0	Enzyme: Prenyltransferase	BrainSpLMD|2224;Eurexp|euxassay_005185|adenohypophysis, adrenal gland, axial skeleton, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, limb, liver, lung, mandible, maxilla, mesenchyme, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, paraxial mesenchyme, rectum, retina, skeletal muscle, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|134629;HPO|2224|Cutaneous photosensitivity, Porokeratosis
RG-div2	ATAD2	0.91705018	0	ATPase	BrainSpLMD|29028;Eurexp|euxassay_012771|ventricular layer	OMIM|611941
RG-div2	MT3	0.912368022	0	Unclassified	BrainSpLMD|4504;Eurexp|euxassay_012667|dorsal root ganglion, glossopharyngeal IX, trigeminal V, ventral grey horn, ventricular layer	OMIM|139255
RG-div2	PELI2	0.911974518	0	Unclassified	BrainSpLMD|57161;Eurexp|euxassay_014344|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, hyoid bone, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, tibia, turbinate bones, vault of skull	OMIM|614798
RG-div2	JAM2	0.909115	0	Adhesion molecule	BrainSpLMD|58494	OMIM|606870
RG-div2	HMGN2P5	0.904964261	0			
RG-div2	FAM111A	0.904562327	0	Unclassified	BrainSpLMD|63901;Eurexp|euxassay_011616|lobe, mandible, maxilla, orbito-sphenoid, thymus primordium, thyroid, ventricular layer	OMIM|615292;HPO|63901|Abnormality of the medullary cavity of the long bones, Anemia, Aniridia, Ankyloglossia, Ascites, Autosomal dominant inheritance, Basal ganglia calcification, Brachydactyly, Congenital cataract, Delayed closure of the anterior fontanelle, Failure to thrive, Flared metaphysis, Global developmental delay, Hydrocephalus, Hypermetropia, Hypocalcemia, Hypoparathyroidism, Hypoplastic spleen, Increased bone mineral density, Macrocephaly, Micropenis, Microphthalmia, Papilledema, Prominent forehead, Retinal calcification, Seizures, Severe short stature, Short stature, Slender long bone, Small for gestational age, Thickened cortex of long bones, Transient hypophosphatemia
RG-div2	MAT2B	0.900799459	0	Enzyme: Adenosyltransferase	BrainSpLMD|27430;Eurexp|euxassay_000623|olfactory	OMIM|605527
RG-div2	MID1	0.900685026	0	Transcription regulatory protein;Ubiquitin proteasome system protein	BrainSpLMD|4281;Eurexp|euxassay_013835|excretory component, marginal layer, neural retina, ventricular layer;BrainSpMouseDev|17087	OMIM|300552;HPO|4281|Abnormal heart morphology, Abnormality of the nasopharynx, Agenesis of corpus callosum, Anal atresia, Anteverted nares, Aspiration, Cleft palate, Cleft upper lip, Cryptorchidism, Dysphagia, Esophageal atresia, Frontal bossing, Gastroesophageal reflux, Global developmental delay, Heterogeneous, High palate, Hypertelorism, Hypospadias, Posterior pharyngeal cleft, Prominent forehead, Smooth philtrum, Telecanthus, Thin upper lip vermilion, Tracheoesophageal fistula, Wide nasal bridge, Widow's peak, X-linked recessive inheritance
RG-div2	CDO1	0.892893477	0	Enzyme: Oxidoreductase	BrainSpLMD|1036	OMIM|603943
RG-div2	SLC35F1	0.889651269	0	Integral membrane protein	Eurexp|euxassay_019705|dorsal root ganglion, embryo, glossopharyngeal IX, intermediate grey horn, mantle layer, rest of cerebellum, trigeminal V, ventral grey horn, ventricular layer	
RG-div2	REST	0.887731781	0	Transcription regulatory protein	BrainSpLMD|5978;BrainSpMouseDev|19475	OMIM|600571;HPO|5978|Abdominal pain, Gingival fibromatosis, Gingival overgrowth, Nephroblastoma
RG-div2	PFN1	0.886164117	0	Cytoskeletal associated protein	BrainSpLMD|5216	OMIM|176610;HPO|5216|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dysarthria, Dysphagia, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Muscle weakness, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
RG-div2	GSTP1	0.885626527	0	Enzyme: Glutathione transferase	BrainSpLMD|2950;Eurexp|euxassay_006221|lobe	OMIM|134660
RG-div2	C1orf61	0.885029991	0	Transcription regulatory protein	BrainSpLMD|10485	
RG-div2	PKM	0.883400316	0	Enzyme: Phosphotransferase	BrainSpLMD|5315	OMIM|179050
RG-div2	MSI2	0.878271811	0	RNA binding protein	BrainSpLMD|124540	OMIM|607897;COSMIC||CML
RG-div2	NFIC	0.877250914	0	Transcription factor	BrainSpLMD|4782;Eurexp|euxassay_008959|mesenchyme;BrainSpMouseDev|17796	OMIM|600729
RG-div2	TPI1	0.871157919	0	Enzyme: Isomerase	BrainSpLMD|7167	OMIM|190450;HPO|7167|Abnormality of immune system physiology, Autosomal recessive inheritance, Central nervous system degeneration, Cholecystitis, Cholelithiasis, Chronic hemolytic anemia, Congestive heart failure, Diaphragmatic paralysis, Dystonia, Generalized hypotonia, Global developmental delay, Hemolytic anemia, Hyporeflexia, Jaundice, Kyphosis, Muscular hypotonia, Myopathy, Normochromic anemia, Normocytic anemia, Peripheral neuropathy, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Splenomegaly, Tremor, Unsteady gait
RG-div2	NPAS3	0.866336916	0	Transcription factor	BrainSpLMD|64067;Eurexp|euxassay_009424|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|27131	OMIM|609430
RG-div2	HMGN2	0.861989425	0	Transcription regulatory protein	BrainSpLMD|3151;Eurexp|euxassay_007442|embryo;BrainSpMouseDev|15106	OMIM|163910
RG-div2	AGO3	0.85865112	0	Translation regulatory protein	BrainSpLMD|192669	OMIM|607355
RG-div2	HMGN3	0.854189352	0	DNA binding protein	BrainSpLMD|9324;Eurexp|euxassay_010528|lens, olfactory;BrainSpMouseDev|60980	OMIM|604502
RG-div2	MTHFD1	0.854091737	0	Enzyme: Dehydrogenase	BrainSpLMD|4522;Eurexp|euxassay_004845|axial muscle, fundus, incisor, left, left lung, lumen, molar, oesophagus, pancreas, right, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|172460
RG-div2	DNMT1	0.853142151	0	DNA methyltransferase	BrainSpLMD|1786;BrainSpMouseDev|13212	OMIM|126375;HPO|1786|Adult onset, Apathy, Ataxia, Autosomal dominant inheritance, Cataplexy, Cerebellar atrophy, Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers, Dementia, Depressivity, Excessive daytime sleepiness, Excessive daytime somnolence, Hyperreflexia, Hyporeflexia, Impulsivity, Irritability, Memory impairment, Narcolepsy, Osteomyelitis, Primitive reflex, Progressive, Sensorineural hearing impairment, Sensory neuropathy, Spasticity
RG-div2	SIPA1L1	0.845222317	0	GTPase activating protein	BrainSpLMD|26037	OMIM|617504
RG-div2	TPI1P1	0.844301904	0			
RG-div2	CNP	0.843199217	0	Enzyme: Phosphodiesterase	BrainSpLMD|1267;BrainSpMouseDev|12582	OMIM|123830
RG-div2	AASS	0.843173856	0	Enzyme: Oxidoreductase;Enzyme: Synthase	BrainSpLMD|10157	OMIM|605113;HPO|10157|Abnormality of the genitourinary system, Anemia, Autosomal recessive inheritance, Cognitive impairment, Delayed speech and language development, EEG abnormality, Ectopia lentis, Histidinuria, Hyperactivity, Hyperlysinemia, Hyperlysinuria, Infantile onset, Intellectual disability, Intellectual disability, mild, Muscular hypotonia, Phenotypic variability, Seizures, Short attention span, Short stature, Spastic diplegia
RG-div2	MMS22L	0.840885468	0	Unclassified	BrainSpLMD|253714	OMIM|615614
RG-div2	TCF3	0.839447463	0	Transcription factor	BrainSpLMD|6929;BrainSpMouseDev|21184	OMIM|147141;COSMIC||pre B-ALL;HPO|6929|Agammaglobulinemia, Arthritis, Autosomal dominant inheritance, B lymphocytopenia, Chronic otitis media, Conjunctivitis, Cough, Diarrhea, Failure to thrive, Fatigue, Fever, Immunodeficiency, Infantile onset, Osteomyelitis, Recurrent respiratory infections, Recurrent skin infections, Sinusitis, Skin rash
RG-div2	MSI1	0.833166631	0	RNA binding protein	BrainSpLMD|4440	OMIM|603328
RG-div2	CKB	0.830243734	0	Enzyme: Phosphotransferase	BrainSpLMD|1152;Eurexp|euxassay_011493|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lung, mandible, mantle layer, maxilla, midgut, neural retina, oesophagus, olfactory, rectum, sternum, stomach, trigeminal V, ventral grey horn, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ, wall	OMIM|123280
RG-div2	NADK2	0.825609967	0	Unclassified	BrainSpLMD|133686	OMIM|615787;HPO|133686|Autosomal recessive inheritance, Cerebral atrophy, Choreoathetosis, Cortical visual impairment, Death in infancy, Decreased plasma free carnitine, Dystonia, Encephalopathy, Failure to thrive, Global developmental delay, Hyperlysinemia, Leukodystrophy, Microcephaly, Muscular hypotonia, Neonatal hypotonia, Nystagmus, Seizures, Spasticity, Tetraplegia, Ventriculomegaly
RG-div2	ABAT	0.825226406	0	Enzyme: Aminotransferase	BrainSpLMD|18;Eurexp|euxassay_001907|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, thymus primordium, trigeminal V, ventricular layer;BrainSpMouseDev|92603	SFARI||Autism, 4 - Minimal evidence;OMIM|137150;HPO|18|Agenesis of corpus callosum, Autosomal recessive inheritance, Cerebellar hypoplasia, Death in childhood, Downslanted palpebral fissures, Global developmental delay, High-pitched cry, Hyperreflexia, Lethargy, Leukodystrophy, Posterior fossa cyst, Retrognathia, Seizures, Severe muscular hypotonia, Tall stature
RG-div2	EFNB2	0.822931761	0	Membrane bound ligand	BrainSpLMD|1948;Eurexp|euxassay_018950|bladder, incisor, lung, mantle layer, mesenchyme, metanephros, molar, oesophagus, pericardium, submandibular gland primordium, urethra, ventricular layer, vibrissa;BrainSpMouseDev|13420	OMIM|600527
RG-div2	REXO2	0.813082565	0	Ribonuclease	BrainSpLMD|25996	OMIM|607149
RG-div2	ETV1	0.811857056	0	Transcription factor	BrainSpLMD|2115;BrainSpMouseDev|13786	OMIM|600541;COSMIC||Ewing sarcoma, prostate
RG-div2	NUF2	0.80945281	0	Cytoskeletal associated protein;Cell cycle control protein	BrainSpLMD|83540	OMIM|611772
RG-div2	PHIP	0.808436334	0	Ligand	BrainSpLMD|55023	SFARI||Autism, 4 - Minimal evidence;OMIM|612870
RG-div2	EXOSC8	0.808342187	0	Ribonuclease	BrainSpLMD|11340	OMIM|606019;HPO|11340|Autosomal recessive inheritance, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Failure to thrive, Feeding difficulties, Global developmental delay, Hearing impairment, Hypoplasia of the corpus callosum, Muscle weakness, Respiratory failure, Spastic tetraparesis, Spinal muscular atrophy, Visual impairment
RG-div2	LGALS3	0.808213551	0	Transcription regulatory protein	BrainSpLMD|3958	OMIM|153619
RG-div2	SRGAP3	0.805566255	0	GTPase activating protein	BrainSpLMD|9901	SFARI||Autism, 4 - Minimal evidence;OMIM|606525;COSMIC||pilocytic astrocytoma
RG-div2	QKI	0.799531722	0	RNA binding protein	BrainSpLMD|9444;Eurexp|euxassay_012259|diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, lens, lung, mandible, mantle layer, marginal layer, maxilla, meninges, midgut, neural retina, orbito-sphenoid, petrous part, skeletal muscle, stomach, submandibular gland primordium, turbinate, vault of skull, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|609590;COSMIC||angiocentric glioma, colorectal cancer
RG-div2	HMGN2P3	0.799422774	0			
RG-div2	AC120042.1	0.796317888	0			
RG-div2	CARHSP1	0.79245092	0	Calcium binding protein	BrainSpLMD|23589	OMIM|616885
RG-div2	HMGN5	0.789899705	0	Transcription regulatory protein	BrainSpLMD|79366;BrainSpMouseDev|30371	OMIM|300385
RG-div2	CH17.449C21.1	0.788545374	0			
RG-div2	HMGB2	0.786411576	0	Transcription regulatory protein	BrainSpLMD|3148;Eurexp|euxassay_019251|incisor, lobe, lung, marginal layer, metanephros, molar, neural retina, oesophagus, pancreas, pituitary, submandibular gland primordium, thymus primordium, thyroid, trachea, turbinate bones, valve, ventricle, ventricular layer, vertebral axis muscle system	OMIM|163906
RG-div2	TSPAN5	0.785742077	0	Integral membrane protein	BrainSpLMD|10098	OMIM|613136
RG-div2	ANP32E	0.777766446	0	Unclassified	BrainSpLMD|81611	OMIM|609611
RG-div2	ANXA5	0.773758077	0	Calcium binding protein	BrainSpLMD|308;Eurexp|euxassay_002158|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, meninges, renal/urinary system, reproductive system, respiratory system, tail	OMIM|131230
RG-div2	CNN3	0.77069037	0	Cytoskeletal associated protein	BrainSpLMD|1266;Eurexp|euxassay_009765|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|602374
RG-div2	SHISA2	0.763482289	0	Integral membrane protein	BrainSpLMD|387914	OMIM|617324
RG-div2	MAPK1	0.759552877	0	Serine/threonine kinase	BrainSpLMD|5594	SFARI||Autism, 5 - Hypothesized but untested;OMIM|176948;COSMIC||CLL, ovarian mixed germ cell tumour, cervical carcinoma;HPO|5594|Abnormality of earlobe, Absent fingernail, Absent toenail, Clinodactyly of the 5th finger, Deeply set eye, Global developmental delay, Highly arched eyebrow, Intellectual disability, Intrauterine growth retardation, Language impairment, Microcephaly, Neoplasm, Pes planus, Pointed chin, Premature birth, Short stature, Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Underdeveloped nasal alae
RG-div2	CKS1B	0.750446426	0	Cell cycle control protein		OMIM|116900
RG-div2	JUN	0.742424062	0	Transcription factor	BrainSpLMD|3725;Eurexp|euxassay_017995|mantle layer, metacarpus, metatarsus, olfactory, phalanx, ventral grey horn, ventricular layer;BrainSpMouseDev|16249	OMIM|165160;COSMIC||sarcoma
RG-div2	PALLD	0.740362142	0	Unclassified	BrainSpLMD|23022	OMIM|608092
RG-div2	CLSPN	0.735538136	0	Cell cycle control protein	BrainSpLMD|63967;Eurexp|euxassay_004199|ventricular layer	OMIM|605434
RG-div2	NBPF9	0.730189651	0	Unclassified		OMIM|613999
RG-div2	ZEB1	0.726907322	0	Transcription factor	BrainSpLMD|6935;Eurexp|euxassay_015398|central nervous system, meninges, vertebral axis muscle system;BrainSpMouseDev|21178	OMIM|189909;COSMIC||CCRCC, melanoma;HPO|6935|Autosomal dominant inheritance, Corneal dystrophy, Corneal guttata
RG-div2	11-Sep	0.725948146	0			
RG-div2	MSMO1	0.719115174	0	Unclassified	BrainSpLMD|6307;Eurexp|euxassay_000744|Meckel's cartilage, adrenal gland, calyces, chondrocranium, dorsal root ganglion, facial VII, foregut-midgut junction, hindgut, incisor, inferior, lobe, mesenchyme, midgut, molar, olfactory, stomach, superior, testis, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|607545;HPO|6307|Arthralgia, Autosomal recessive inheritance, Blepharitis, Congenital cataract, Decreased circulating low-density lipoprotein levels, Delayed puberty, Delayed skeletal maturation, Failure to thrive, Global developmental delay, Hypocholesterolemia, Ichthyosis, Intellectual disability, mild, Microcephaly, Psoriasiform dermatitis, Short stature
RG-div2	DHTKD1	0.713137872	0	Enzyme: Oxidoreductase	BrainSpLMD|55526	OMIM|614984;HPO|55526|Aminoaciduria, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Delayed speech and language development, Difficulty walking, Generalized hypotonia, Global developmental delay, Intellectual disability, mild, Microcephaly, Phenotypic variability, Skeletal muscle atrophy
RG-div2	9-Sep	0.712521942	0			
RG-div2	HSPA1B	0.704662241	0	Chaperone	BrainSpLMD|3304	OMIM|603012
RG-div2	SERPINH1	0.701119596	0	Heat shock protein	BrainSpLMD|871	OMIM|600943;HPO|871|Autosomal recessive inheritance, Blue sclerae, Broad ribs, Chronic lung disease, Dentinogenesis imperfecta, Generalized hypotonia, Generalized joint laxity, Genu valgum, High forehead, High pitched voice, Inguinal hernia, Joint laxity, Malar flattening, Micrognathia, Micromelia, Midface retrusion, Narrow chest, Narrow forehead, Nephrolithiasis, Osteopenia, Platyspondyly, Prominent forehead, Pyloric stenosis, Relative macrocephaly, Scoliosis, Shallow orbits, Short stature, Thin ribs, Triangular face, Vertebral compression fractures
RG-div2	FUT8	0.685582763	0	Enzyme: Fucosyltransferase	BrainSpLMD|2530	OMIM|602589
RG-div2	GPM6B	0.679381476	0	Integral membrane protein	BrainSpLMD|2824;Eurexp|euxassay_011476|intermediate grey horn, mantle layer, marginal layer, ventral grey horn, ventricular layer	OMIM|300051
RG-div2	IDI1	0.676463652	0	Enzyme: Isomerase	BrainSpLMD|3422;Eurexp|euxassay_011601|adrenal gland, cervical, cervico-thoracic, clavicle, cortex, dorsal root ganglion, glossopharyngeal IX, hindgut, incisor, lobe, mandible, mantle layer, maxilla, midgut, molar, neural retina, olfactory, orbito-sphenoid, pancreas, rectum, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ	OMIM|604055
RG-div2	WDR76	0.673677816	0	Unclassified	BrainSpLMD|79968	
RG-div2	CRIM1	0.665516942	0	Integral membrane protein	BrainSpLMD|51232;Eurexp|euxassay_014038|lens, mantle layer, physiological umbilical hernia, ventral grey horn, vibrissa	OMIM|606189
RG-div2	PRKDC	0.664520002	0	Serine/threonine kinase;DNA repair protein	BrainSpLMD|5591;Eurexp|euxassay_009524|thymus primordium	SFARI||Autism, 4 - Minimal evidence;OMIM|600899;HPO|5591|Autosomal recessive inheritance, Infantile onset, Microcephaly, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Severe combined immunodeficiency
RG-div2	SMC4	0.663160906	0	Structural protein	BrainSpLMD|10051;Eurexp|euxassay_017379|incisor, liver, lung, metanephros, molar, neural retina, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|605575
RG-div2	EZR	0.661591179	0	Anchor protein	BrainSpLMD|7430;Eurexp|euxassay_018306|axial skeleton, calyces, choroid plexus, cochlea, dorsal root ganglion, epidermis, epithelium, fundus region, hindgut, incisor, larynx, lens, lobe, lung, marginal layer, midgut, molar, oesophagus, oral epithelium, pelvis, penis, pharyngo-tympanic tube, pituitary, rectum, renal/urinary system, rib, saccule, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricle, ventricular layer, vibrissa	OMIM|123900;COSMIC||NSCLC
RG-div2	EEF1D	0.657565587	0	Guanine nucleotide exchange factor	BrainSpLMD|1936	OMIM|130592
RG-div2	FSTL1	0.654617193	0	Protease inhibitor	Eurexp|euxassay_003685|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail;BrainSpMouseDev|14090	OMIM|605547
RG-div2	RAN	0.644406851	0	GTPase	BrainSpLMD|5901	OMIM|601179
RG-div2	TMBIM6	0.644083887	0	Integral membrane protein	BrainSpLMD|7009	OMIM|600748
RG-div2	HSPB1	0.64091345	0	Chaperone	BrainSpLMD|3315	OMIM|602195;HPO|3315|Adult onset, Areflexia, Areflexia of lower limbs, Autosomal dominant inheritance, Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Difficulty walking, Distal amyotrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Distal sensory impairment, EMG: chronic denervation signs, EMG: neuropathic changes, Fasciculations, Foot dorsiflexor weakness, Heterogeneous, Hyporeflexia, Hyporeflexia of lower limbs, Impaired pain sensation, Impaired temperature sensation, Limb fasciculations, Lower limb muscle weakness, Muscle cramps, Paresis of extensor muscles of the big toe, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Reduced tendon reflexes, Slow progression, Split hand, Steppage gait, Talipes equinovarus, Ulnar claw, Upper limb amyotrophy
RG-div2	NUSAP1	0.639355895	0	Cell cycle control protein	BrainSpLMD|51203	OMIM|612818
RG-div2	AP001172.2	0.63182036	0			
RG-div2	GAPDH	0.622633883	0	Enzyme: Dehydrogenase		OMIM|138400
RG-div2	MAGI1	0.610302784	0	Cell junction protein	BrainSpLMD|9223;Eurexp|euxassay_016214|axial skeleton, clavicle, femur, fibula, humerus, pelvic girdle, rib, scapula, tibia	OMIM|602625
RG-div2	FKBP9	0.609105547	0	Chaperone	BrainSpLMD|11328;Eurexp|euxassay_007465|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, metatarsus, nasal septum, nucleus pulposus, orbito-sphenoid, otic capsule, phalanx, radius, rib, sternum, temporal bone, thyroid, tibia, turbinate, ulna, vault of skull	OMIM|616257;COSMIC||glioma
RG-div2	TRPS1	0.608112762	0	Transcription factor	BrainSpLMD|7227;Eurexp|euxassay_011487|axial skeleton, basioccipital bone, basisphenoid bone, bladder, clavicle, cornea, cricoid, diaphragm, dorsal grey horn, exoccipital bone, femur, humerus, knee, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, rib, skeletal muscle, sternum, stomach, submandibular gland primordium, thyroid, tongue, trachea, ureter, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|58142	OMIM|604386;HPO|7227|Abnormality of the nervous system, Abnormally low-pitched voice, Accelerated bone age after puberty, Aplasia/Hypoplasia of the mandible, Arthralgia, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Bone pain, Bulbous nose, Camptodactyly of finger, Carious teeth, Chin with horizontal crease, Clinodactyly of the 5th finger, Concave nail, Cone-shaped epiphyses of the middle phalanges of the hand, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphyses of the proximal phalanges of the hand, Cone-shaped epiphysis, Coxa magna, Deep philtrum, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Fine hair, Flat capital femoral epiphysis, Fragile nails, Frontal bossing, Generalized hypotonia, High palate, Hyperlordosis, Increased number of teeth, Infantile muscular hypotonia, Intellectual disability, Ivory epiphyses of the distal phalanges of the hand, Joint dislocation, Joint hyperflexibility, Leukonychia, Long philtrum, Long upper lip, Low-set, posteriorly rotated ears, Macrotia, Microdontia, Micrognathia, Multiple long-bone exostoses, Muscular hypotonia, Narrow palate, Osteoarthritis, Osteopenia, Pear-shaped nose, Pectus carinatum, Pes planus, Protruding ear, Recurrent respiratory infections, Redundant skin, Scapular winging, Scoliosis, Short distal phalanx of finger, Short finger, Short foot, Short metacarpal, Short metatarsal, Short palm, Short phalanx of finger, Short stature, Shortening of all phalanges of fingers, Slow-growing hair, Smooth philtrum, Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Sparse lateral eyebrow, Sparse scalp hair, Swelling of proximal interphalangeal joints, Thick eyebrow, Thin eyebrow, Thin nail, Thin upper lip vermilion, Triangular face, Underdeveloped nasal alae
RG-div2	CENPF	0.602686801	0	Cell cycle control protein	BrainSpLMD|1063	OMIM|600236
RG-div2	SCAF11	0.59998563	0	RNA binding protein	BrainSpLMD|9169;Eurexp|euxassay_014100|ventricle, ventricular layer	OMIM|603668
RG-div2	PDCD4	0.597499497	0	Unclassified	BrainSpLMD|27250;Eurexp|euxassay_010730|epidermis, epithelium, floor plate, floorplate, larynx, olfactory, sternum, thymus primordium, urethra, ventricular layer	OMIM|608610
RG-div2	SNRPG	0.583357975	0	Ribonucleoprotein	Eurexp|euxassay_001471|cervical, cervico-thoracic, cortex, thoracic, thymus primordium, ventricular layer	OMIM|603542
RG-div2	CCND2	0.5830381	0	Cell cycle control protein	BrainSpLMD|894	OMIM|123833;COSMIC||NHL, CLL;HPO|894|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Congenital onset, Depressed nasal bridge, Global developmental delay, High forehead, Hydrocephalus, Hypertelorism, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Prominent forehead, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
RG-div2	MCM7	0.576963764	0	Unclassified;DNA helicase	BrainSpLMD|4176;Eurexp|euxassay_018019|embryo	OMIM|600592
RG-div2	SAT1	0.573628265	0	Enzyme: Acyltransferase	BrainSpLMD|6303;Eurexp|euxassay_018693|bladder, incisor, metanephros, olfactory, urethra, vibrissa	OMIM|313020;HPO|6303|Blepharitis, Conjunctivitis, Corneal dystrophy, Dry skin, Dystrophic fingernails, Ectropion, Facial erythema, Follicular hyperkeratosis, Folliculitis, Heterogeneous, Keratitis, Nail dysplasia, Palmoplantar keratoderma, Perifollicular fibrosis, Photophobia, Scarring alopecia of scalp, Sparse and thin eyebrow, Sparse eyelashes, X-linked recessive inheritance
RG-div2	AFMID	0.570934361	0	Unclassified		
RG-div2	KLF6	0.570672004	0	Transcription factor	BrainSpLMD|1316;Eurexp|euxassay_018886|mantle layer, marginal layer;BrainSpMouseDev|23602	OMIM|602053;COSMIC||prostate, glioma;HPO|1316|Autosomal dominant inheritance, Prostate cancer, Somatic mutation, Stomach cancer
RG-div2	TOP2A	0.569462384	0	Enzyme: Topoisomerase	BrainSpLMD|7153	OMIM|126430;HPO|7153|Elevated urinary catecholamines, Neoplasm of the nervous system
RG-div2	H2AFZ	0.563163322	0	DNA binding protein	BrainSpLMD|3015	OMIM|142763
RG-div2	BICC1	0.552793625	0	RNA binding protein	BrainSpLMD|80114	OMIM|614295
RG-div2	SNRPB	0.551808874	0	RNA binding protein	BrainSpLMD|6628	OMIM|182282;HPO|6628|11 pairs of ribs, Abnormality of the dentition, Anomalous rib insertion to vertebrae, Anomalous tracheal cartilage, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Calcaneal epiphyseal stippling, Cleft palate, Cleft soft palate, Clinodactyly of the 5th finger, Conductive hearing impairment, Congenital hip dislocation, Death in infancy, Ectopic kidney, Elbow flexion contracture, Epicanthus, Feeding difficulties, Gastroesophageal reflux, Glossoptosis, High palate, Horseshoe kidney, Intellectual disability, Intrauterine growth retardation, Kyphosis, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Nasal speech, Neonatal respiratory distress, Patent ductus arteriosus, Polyhydramnios, Porencephalic cyst, Posterior rib gap, Posteriorly rotated ears, Postnatal growth retardation, Renal cyst, Scoliosis, Short hard palate, Short humerus, Short stature, Thoracic hypoplasia, Tracheomalacia, Ventricular septal defect, Webbed neck
RG-div2	TP53	0.551736148	0	Transcription factor	BrainSpLMD|7157;Eurexp|euxassay_017977|submandibular gland primordium, thymus primordium;BrainSpMouseDev|21816	OMIM|191170;COSMIC||breast, colorectal, lung, sarcoma, adrenocortical, glioma, Spitzoid tumour, multiple other tumour types, breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types;HPO|7157|Abnormal lactate dehydrogenase activity, Abnormal platelet morphology, Abnormality of metabolism/homeostasis, Abnormality of the fallopian tube, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphysis, Acute leukemia, Adrenocortical carcinoma, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast carcinoma, Chest pain, Choroid plexus papilloma, Colon cancer, Elevated alkaline phosphatase, Headache, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hydrocephalus, Increased megakaryocyte count, Joint swelling, Lung adenocarcinoma, Lymphoma, Micronodular cirrhosis, Myocardial infarction, Nausea, Neoplasia of the nasopharynx, Neoplasm of the adrenal cortex, Neoplasm of the colon, Neoplasm of the nervous system, Neoplasm of the pancreas, Neoplasm of the skin, Neoplasm of the stomach, Nephroblastoma, Osteolysis, Osteosarcoma, Ovarian neoplasm, Pain, Papilledema, Paresthesia, Polygenic inheritance, Primary peritoneal carcinoma, Progressive encephalopathy, Prolonged bleeding time, Prostate cancer, Prostate neoplasm, Renal cell carcinoma, Retinoblastoma, Seizures, Soft tissue sarcoma, Somatic mutation, Splenomegaly, Subacute progressive viral hepatitis, Transient ischemic attack, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Venous thrombosis, Vomiting
RG-div2	HSPD1	0.545750598	0	Heat shock protein	BrainSpLMD|3329;BrainSpMouseDev|15285	OMIM|118190;HPO|3329|Apnea, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Choreoathetosis, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hyperreflexia, Impaired vibration sensation in the lower limbs, Intellectual disability, profound, Leukodystrophy, Lower limb muscle weakness, Lower limb spasticity, Neonatal onset, Nystagmus, Postnatal microcephaly, Progressive, Progressive spasticity, Seizures, Spastic gait, Spastic paraplegia, Strabismus, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
RG-div2	GLO1	0.543576129	0	Enzyme: Lyase	BrainSpLMD|2739	SFARI||Autism, 4 - Minimal evidence;OMIM|138750
RG-div2	DEK	0.540878186	0	DNA binding protein	BrainSpLMD|7913	OMIM|125264;COSMIC||AML
RG-div2	SYNE2	0.540364868	0	Cytoskeletal protein	BrainSpLMD|23224;Eurexp|euxassay_010927|cochlea, metanephros, pericardial cavity, peritoneal cavity, renal/urinary system, utricle, ventricular layer	OMIM|608442;HPO|23224|Arrhythmia, Autosomal dominant inheritance, Cardiomyopathy, Childhood onset, Elevated serum creatine phosphokinase, Muscular dystrophy, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Respiratory insufficiency
RG-div2	HMGB1P5	0.536390929	0			
RG-div2	MOB3B	0.531452492	0	Unclassified	BrainSpLMD|79817;Eurexp|euxassay_011555|incisor, molar	OMIM|617652
RG-div2	PPP1CB	0.515747149	0	Serine/threonine phosphatase	BrainSpLMD|5500	OMIM|600590;HPO|5500|Arnold-Chiari type I malformation, Autosomal dominant inheritance, Broad neck, Cafe-au-lait spot, Coarctation of aorta, Craniosynostosis, Cryptorchidism, Dandy-Walker malformation, Delayed skeletal maturation, Delayed speech and language development, Dermal translucency, Downslanted palpebral fissures, Failure to thrive, Freckling, Generalized hypotonia, Global developmental delay, High palate, Hypertelorism, Joint hypermobility, Low-set ears, Mitral regurgitation, Optic nerve hypoplasia, Overfolded helix, Patent ductus arteriosus, Patent foramen ovale, Peripheral pulmonary artery stenosis, Posteriorly rotated ears, Prominent forehead, Pulmonic stenosis, Right bundle branch block, Short neck, Short stature, Slow-growing hair, Sparse hair, Thickened helices, Ventricular septal defect, Webbed neck
RG-div2	NAP1L1	0.495025104	0	Transcription regulatory protein	BrainSpLMD|4673;Eurexp|euxassay_005511|nucleus pulposus	OMIM|164060
RG-div2	FAM171B	0.491367758	0	Integral membrane protein	BrainSpLMD|165215;Eurexp|euxassay_008581|dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, ventricular layer, vestibulocochlear VIII	
RG-div2	FADS1	0.489395827	0	Enzyme: Oxidoreductase	BrainSpLMD|3992;Eurexp|euxassay_000686|adrenal gland, testis	OMIM|606148
RG-div2	CTNNB1	0.487264139	0	Adhesion molecule	BrainSpLMD|1499;BrainSpMouseDev|12172	SFARI||Autism, 3 - Suggestive evidence;OMIM|116806;COSMIC||colorectal, ovarian, hepatoblastoma, pleomorphic salivary gland adenoma, other tumour types;HPO|1499|Abdominal pain, Abnormal hypothalamus morphology, Abnormal visual field test, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Autosomal dominant inheritance, Autosomal recessive inheritance, Bitemporal hemianopia, Breast carcinoma, Central adrenal insufficiency, Central diabetes insipidus, Cerebral calcification, Desmoid tumors, Dysgerminoma, Elevated alpha-fetoprotein, Enlarged pituitary gland, Epigastric pain, Excessive daytime somnolence, Fatigue, Generalized hypotonia, Global developmental delay, Headache, Hepatic fibrosis, Hepatic necrosis, Hepatocellular carcinoma, Hepatomegaly, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hypogonadotrophic hypogonadism, Hypoplasia of the corpus callosum, Incomplete penetrance, Infantile onset, Intellectual disability, Intestinal polyposis, Intracranial cystic lesion, Long philtrum, Malabsorption, Medulloblastoma, Microcephaly, Micronodular cirrhosis, Myalgia, Nausea and vomiting, Neoplasm of the anterior pituitary, Neoplasm of the stomach, Neurological speech impairment, Obesity, Ovarian papillary adenocarcinoma, Papilledema, Pilomatrixoma, Pituitary hypothyroidism, Portal vein thrombosis, Progressive visual field defects, Prolactin excess, Renal cell carcinoma, Slow decrease in visual acuity, Somatic mutation, Spastic diplegia, Strabismus, Subacute progressive viral hepatitis, Subcutaneous nodule, Thin upper lip vermilion, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Vomiting
RG-div2	TRIM59	0.474247039	0	Ubiquitin proteasome system protein		OMIM|616148
RG-div2	NBPF15	0.469454721	0	Unclassified		OMIM|614005
RG-div2	CD63	0.468683168	0	Integral membrane protein	BrainSpLMD|967	OMIM|155740
RG-div2	RDX	0.44816076	0	Cytoskeletal associated protein	BrainSpLMD|5962	OMIM|179410;HPO|5962|Autosomal recessive inheritance, Infantile onset, Profound sensorineural hearing impairment
RG-div2	NFIA	0.44467603	0	Transcription factor	BrainSpLMD|4774;BrainSpMouseDev|17794	SFARI||Autism, 4 - Minimal evidence;OMIM|600727;HPO|4774|Agenesis of corpus callosum, Anteverted nares, Arnold-Chiari type I malformation, Broad face, Broad forehead, Cognitive impairment, Cutis marmorata, Generalized hypotonia, Global developmental delay, Hydronephrosis, Hypoplasia of the corpus callosum, Inguinal hernia, Intellectual disability, Low-set ears, Macrocephaly, Narrow mouth, Phenotypic variability, Renal hypoplasia, Seizures, Short chin, Short nose, Sporadic, Syringomyelia, Thin upper lip vermilion, Ventriculomegaly, Vesicoureteral reflux
RG-div2	PEG10	0.432363571	0	Cell cycle control protein	BrainSpLMD|23089;BrainSpMouseDev|81989	OMIM|609810
RG-div2	7-Sep	0.426787863	0			
RG-div2	CHD7	0.42418576	0	DNA binding protein	Eurexp|euxassay_010758|marginal layer, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|608892;HPO|55636|Abnormality of body height, Abnormality of female internal genitalia, Abnormality of lymphocytes, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Alopecia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bifid scrotum, Breast hypoplasia, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Desquamation of skin soon after birth, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysphagia, Edema, Eosinophilia, Erectile abnormalities, Erythroderma, Esophageal atresia, Eunuchoid habitus, External ear malformation, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Female hypogonadism, Fever, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Hepatomegaly, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphopenia, Malar flattening, Male hypogonadism, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Non-obstructive azoospermia, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Pneumonia, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Secondary amenorrhea, Sensorineural hearing impairment, Severe combined immunodeficiency, Sparse body hair, Splenomegaly, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Thickened skin, Tracheoesophageal fistula, Umbilical hernia, Ventricular septal defect, Wide intermamillary distance
RG-div2	HNRNPA2B1	0.419493803	0	Ribonucleoprotein;RNA binding protein	BrainSpLMD|3181	OMIM|600124;COSMIC||prostate;HPO|3181|Abnormality of the skeletal system, Behavioral abnormality, Centrally nucleated skeletal muscle fibers, Elevated serum creatine phosphokinase, Frontotemporal dementia, Muscle fiber atrophy, Muscular dystrophy, Myopathy, Myositis, Skeletal muscle atrophy
RG-div2	VCAN	0.381301265	0	Extracellular matrix protein	BrainSpLMD|1462	OMIM|118661;HPO|1462|Autosomal dominant inheritance, Cataract, Chorioretinal atrophy, Glaucoma, Myopia, Optic atrophy, Optically empty vitreous, Peripheral traction retinal detachment, Retinal pigment epithelial atrophy, Visual field defect, Visual loss, Vitreoretinal degeneration
RG-div2	LDHB	0.380376083	0	Enzyme: Dehydrogenase	BrainSpLMD|3945	OMIM|150100
RG-div2	HMGB1	0.372449972	0	DNA binding protein	BrainSpMouseDev|15064	OMIM|163905
RG-div2	TMPO	0.365684707	0	Peptide hormone	BrainSpLMD|7112	OMIM|188380;HPO|7112|Autosomal dominant inheritance, Dilated cardiomyopathy, Reduced systolic function
RG-div2	TLK1	0.365342233	0	Serine/threonine kinase	BrainSpLMD|9874	OMIM|608438
RG-div2	RANBP1	0.36070245	0	Transport/cargo protein		OMIM|601180
RG-div2	IFITM3	0.347864068	0	Integral membrane protein	BrainSpLMD|10410;Eurexp|euxassay_004558|pancreas, submandibular gland primordium, thymus primordium	OMIM|605579
RG-div2	MEIS2	0.31799274	0	Transcription factor	BrainSpLMD|4212;BrainSpMouseDev|17303	OMIM|601740;HPO|4212|2-3 toe syndactyly, Atrial septal defect, Autistic behavior, Autosomal dominant inheritance, Biparietal narrowing, Broad hallux, Broad thumb, Cleft palate, Cleft upper lip, Coarctation of aorta, Deeply set eye, Delayed speech and language development, Gastroesophageal reflux, Global developmental delay, High anterior hairline, Highly arched eyebrow, Intellectual disability, Large forehead, Microcephaly, Narrow forehead, Pointed chin, Sandal gap, Short 2nd finger, Short 5th finger, Short philtrum, Short stature, Smooth philtrum, Sparse eyebrow, Tented upper lip vermilion, Upslanted palpebral fissure, Ventricular septal defect
RG-div2	GOLIM4	0.284236315	0	Integral membrane protein	BrainSpLMD|27333	OMIM|606805
RG-div2	RNU2.1	0.277321158	0			
RG-div2	RNASEH2A	1.524453123	1.11E-16	Ribonuclease	BrainSpLMD|10535	OMIM|606034;HPO|10535|Arrhinencephaly, Autosomal recessive inheritance, CSF lymphocytic pleiocytosis, Cerebellar atrophy, Cerebral atrophy, Cerebral calcification, Cleft eyelid, Convex nasal ridge, Death in childhood, Dystonia, Elevated hepatic transaminases, Feeding difficulties, Hemiplegia/hemiparesis, Hepatomegaly, Hepatosplenomegaly, Hydrocephalus, Infantile onset, Intellectual disability, profound, Intrauterine growth retardation, Leukodystrophy, Low-set ears, Pancytopenia, Porencephalic cyst, Progressive microcephaly, Severe global developmental delay, Spasticity, Splenomegaly, Thrombocytopenia, Ventriculomegaly
RG-div2	MCM2	1.46394388	1.11E-16	DNA binding protein	BrainSpLMD|4171;Eurexp|euxassay_009158|brain, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nerve, sensory organ, spinal cord, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|116945;HPO|4171|Autosomal dominant inheritance, Progressive sensorineural hearing impairment, Slow progression, Variable expressivity
RG-div2	LAMA1	1.28449891	1.11E-16	Extracellular matrix protein	BrainSpLMD|284217;Eurexp|euxassay_011017|epithelium, glomeruli, lens, meninges, renal/urinary system, ventricular layer;BrainSpMouseDev|16544	SFARI||Autism, 4 - Minimal evidence;OMIM|150320;HPO|284217|Abnormality of the periventricular white matter, Amblyopia, Autosomal recessive inheritance, Cerebellar cyst, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Delayed speech and language development, Dilated fourth ventricle, Motor delay, Myopia, Nystagmus, Oculomotor apraxia, Retinal atrophy, Retinal dystrophy, Retinal thinning, Strabismus, Variable expressivity
RG-div2	WDR41	1.208349266	1.11E-16	Unclassified	BrainSpLMD|55255	OMIM|617502
RG-div2	FBN2	1.105429335	1.11E-16	Structural protein	BrainSpLMD|2201;Eurexp|euxassay_008110|lung, mesenchyme	OMIM|612570;HPO|2201|Abnormally folded helix, Adducted thumb, Aortic root dilatation, Arachnodactyly, Arthrogryposis multiplex congenita, Atrial septal defect, Autosomal dominant inheritance, Bicuspid aortic valve, Brachycephaly, Calf muscle hypoplasia, Camptodactyly of finger, Congenital kyphoscoliosis, Crumpled ear, Disproportionate tall stature, Distal arthrogryposis, Ectopia lentis, Frontal bossing, High palate, Joint stiffness, Macular degeneration, Metatarsus adductus, Mitral regurgitation, Mitral valve prolapse, Motor delay, Myopia, Osteopenia, Patellar dislocation, Patellar subluxation, Patent ductus arteriosus, Pectus carinatum, Reduced visual acuity, Scaphocephaly, Short neck, Slender build, Ulnar deviation of finger, Ventricular septal defect, Visual impairment
RG-div2	NFE2L2	1.004878547	1.11E-16	Transcription factor	BrainSpLMD|4780;Eurexp|euxassay_018087|larynx, midgut, rectum, stomach, submandibular gland primordium, thyroid, trachea;BrainSpMouseDev|17791	OMIM|600492;COSMIC||NSCLC, HNSCC
RG-div2	JAM3	0.833998667	1.11E-16	Adhesion molecule	BrainSpLMD|83700;Eurexp|euxassay_000180|cerebral cortex, chondrocranium, diaphragm, head mesenchyme, limb, mantle layer, mesenchyme, tongue, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|58180	OMIM|606871;HPO|83700|Autosomal recessive inheritance, Cataract, Congenital onset, Global developmental delay, Hepatomegaly, Hyperreflexia, Postnatal microcephaly, Seizures, Spasticity, Ventriculomegaly
RG-div2	ENO1	0.766143886	1.11E-16	Enzyme: Hydratase	BrainSpLMD|2023	OMIM|172430
RG-div2	MGST3	0.74046952	1.11E-16	Enzyme: Glutathione transferase	BrainSpLMD|4259;Eurexp|euxassay_015092|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, neural retina, olfactory, spinal cord, stomach, stroma, thoracic, trigeminal V, urethra, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|42290	OMIM|604564
RG-div2	NASP	0.726609247	1.11E-16	Cell cycle control protein	BrainSpLMD|4678;Eurexp|euxassay_016401|marginal layer, metanephros, ventricular layer	OMIM|603185
RG-div2	CTBP2	0.706063242	1.11E-16	Adapter molecule;Transcription regulatory protein	BrainSpLMD|1488;Eurexp|euxassay_012486|eyelid, incisor, lung, marginal layer, metanephros, midgut, molar, pancreas, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|12800	OMIM|602619
RG-div2	MKI67	0.681094642	1.11E-16	Cell cycle control protein	BrainSpLMD|4288	OMIM|176741
RG-div2	PPM1K	0.659276232	1.11E-16	Serine/threonine phosphatase	BrainSpLMD|152926	OMIM|611065;HPO|152926|Elevated plasma branched chain amino acids
RG-div2	MSN	0.653165963	1.11E-16	Cytoskeletal protein	BrainSpLMD|4478;Eurexp|euxassay_009365|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, organ system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	SFARI||Autism, 5 - Hypothesized but untested;OMIM|309845;COSMIC||ALCL;HPO|4478|Decreased antibody level in blood, Eczema, Lymphopenia, Recurrent respiratory infections, Recurrent urinary tract infections, X-linked recessive inheritance
RG-div2	WEE1	0.556505167	1.11E-16	Dual specificity kinase	BrainSpLMD|7465;Eurexp|euxassay_016462|hindgut, lung, midgut, stomach, submandibular gland primordium, ventricular layer	OMIM|193525
RG-div2	SGOL1	0.552968134	1.11E-16			
RG-div2	SMC1A	0.551899773	1.11E-16	Cell cycle control protein	BrainSpLMD|8243	SFARI||Autism, No category;OMIM|300040;COSMIC||AML, Cornelia de Lange syndrome;HPO|8243|Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Brachydactyly, Clinodactyly, Clinodactyly of the 5th finger, Cognitive impairment, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downslanted palpebral fissures, Downturned corners of mouth, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hirsutism, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Limited elbow movement, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Narrow forehead, Neurological speech impairment, Obsessive-compulsive behavior, Phthisis bulbi, Poor speech, Premature birth, Prominent nasal bridge, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Smooth philtrum, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Ventriculomegaly, Vesicoureteral reflux, Widely spaced teeth, X-linked dominant inheritance, X-linked recessive inheritance
RG-div2	BBX	0.496605825	1.11E-16	Transcription factor	BrainSpLMD|56987;Eurexp|euxassay_001866|cortex, mantle layer, pituitary, testis, ventricular layer;BrainSpMouseDev|46349	
RG-div2	SCARA3	1.758778248	2.22E-16	Unclassified;ATPase	BrainSpLMD|51435;Eurexp|euxassay_004188|body-wall mesenchyme, clavicle, cochlea, head mesenchyme, mandible, maxilla, skeleton;BrainSpMouseDev|85488	OMIM|602728
RG-div2	MRC2	1.370150014	2.22E-16	Cell surface receptor	BrainSpLMD|9902;Eurexp|euxassay_009360|mandible, maxilla, meninges, mesenchyme, temporal bone	OMIM|612264
RG-div2	MAGT1	1.266405027	2.22E-16	Unclassified	BrainSpLMD|84061	OMIM|300715;HPO|84061|Decreased T cell activation, Decreased number of CD4+ T cells, Immunodeficiency, Lymphoma, Recurrent viral infections, X-linked inheritance
RG-div2	INSIG1	0.94158601	2.22E-16	Integral membrane protein	BrainSpLMD|3638;Eurexp|euxassay_011040|cervical, cervico-thoracic, glossopharyngeal IX, hindgut, incisor, lobe, mandible, maxilla, mesenchyme, midgut, neural retina, rectum, stomach, thoracic, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|602055
RG-div2	SLC25A37	0.8700936	2.22E-16	Transport/cargo protein	BrainSpLMD|51312;Eurexp|euxassay_007768|liver, mesenchyme	OMIM|610387
RG-div2	PARP1	0.841909539	2.22E-16	Enzyme: Ribosyltransferase	BrainSpLMD|142	OMIM|173870
RG-div2	FAM114A1	0.76172492	2.22E-16	Unclassified	BrainSpLMD|92689;Eurexp|euxassay_002429|Meckel's cartilage, cranium	
RG-div2	PTPRM	0.645947432	2.22E-16	Receptor tyrosine phosphatase	BrainSpLMD|5797;Eurexp|euxassay_010519|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|176888
RG-div2	WIPF3	0.46259186	2.22E-16	Cytoskeletal associated protein	BrainSpLMD|644150	OMIM|612432
RG-div2	NEDD1	0.372696053	2.22E-16	Unclassified	BrainSpLMD|121441;Eurexp|euxassay_017529|ventricular layer	OMIM|600372
RG-div2	RANP1	0.313085019	2.22E-16			
RG-div2	STOM	2.064822283	3.33E-16	Integral membrane protein	BrainSpLMD|2040;Eurexp|euxassay_005540|bladder, hindgut, left, midgut, rectum, right, wall	OMIM|133090;HPO|2040|Autosomal dominant inheritance, Hemolytic anemia, Hepatomegaly, Hyperbilirubinemia, Increased intracellular sodium, Increased red cell osmotic fragility, Jaundice, Reticulocytosis, Splenomegaly, Stomatocytosis
RG-div2	PRDM16	1.603661921	3.33E-16	Transcription factor	BrainSpLMD|63976	OMIM|605557;COSMIC||MDS, AML;HPO|63976|Abnormal morphology of the left ventricle, Absent speech, Agenesis of corpus callosum, Autism, Autosomal dominant inheritance, Brachycephaly, Brachydactyly, Camptodactyly of finger, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Congestive heart failure, Constipation, Deeply set eye, Delayed cranial suture closure, Depressed nasal bridge, Depressed nasal ridge, Dilated cardiomyopathy, Dysphagia, EEG abnormality, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Gait disturbance, Gastroesophageal reflux, Global developmental delay, High-grade hypermetropia, Horizontal eyebrow, Intellectual disability, Left ventricular noncompaction, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Midface retrusion, Muscular hypotonia, Narrow mouth, Pointed chin, Poor speech, Seizures, Self-injurious behavior, Short foot, Stereotypy, Strabismus, Ventriculomegaly, Wide nasal bridge
RG-div2	RCN1	1.49767706	3.33E-16	Calcium binding protein	BrainSpLMD|5954;Eurexp|euxassay_006169|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, peripheral nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|19435	OMIM|602735
RG-div2	MT2A	0.851620768	3.33E-16	Unclassified	Eurexp|euxassay_004529|left, oesophagus, pancreas, pharyngo-tympanic tube, right, stomach, submandibular gland primordium, thyroid, vibrissa	OMIM|156360
RG-div2	G3BP1	0.465160702	4.44E-16	RNA binding protein;Ribonuclease	BrainSpLMD|10146	OMIM|608431
RG-div2	PHACTR2	1.162273467	5.55E-16	Enzyme regulator	BrainSpLMD|9749;Eurexp|euxassay_007706|alimentary system, cardiovascular system, cavities and their linings, choroid invagination, choroid plexus, gland, integumental system, limb, mesenchyme, renal/urinary system, reproductive system, respiratory system, roof plate, sensory organ, tail, ventricular layer, vertebral axis muscle system	OMIM|608724
RG-div2	SULT1C4	0.950352123	5.55E-16	Enzyme: Sulphotransferase	BrainSpLMD|27233	OMIM|608357
RG-div2	COA1	0.649216273	5.55E-16	Unclassified	BrainSpLMD|55744	OMIM|614769
RG-div2	BSG	0.670382574	6.66E-16	Cell surface receptor	BrainSpLMD|682	OMIM|109480
RG-div2	HSP90B1	0.54637259	6.66E-16	Heat shock protein	BrainSpLMD|7184;Eurexp|euxassay_000099|body-wall mesenchyme, dermis, epidermis, nucleus pulposus	OMIM|191175
RG-div2	NPM1	0.334325433	8.88E-16	Chaperone	BrainSpLMD|4869;Eurexp|euxassay_005708|embryo	OMIM|164040;COSMIC||NHL, APL, AML
RG-div2	TRIM9	0.418191109	9.99E-16	Unclassified	BrainSpLMD|114088;Eurexp|euxassay_010509|mantle layer, molar, ventricular layer	OMIM|606555
RG-div2	HSPE1	0.408036872	9.99E-16	Heat shock protein	BrainSpLMD|3336	OMIM|600141
RG-div2	BTG3	0.687930951	1.11E-15	Cell cycle control protein	BrainSpLMD|10950	OMIM|605674
RG-div2	AC006115.3	1.345465788	1.44E-15			
RG-div2	RP11.673C5.1	0.542431776	1.44E-15			
RG-div2	CALD1	0.386705535	1.44E-15	Cytoskeletal associated protein	BrainSpLMD|800	OMIM|114213
RG-div2	PGGT1B	0.384754357	1.67E-15	Enzyme: Prenyltransferase	BrainSpLMD|5229	OMIM|602031
RG-div2	MOV10	1.318237893	1.78E-15	Unclassified	BrainSpLMD|4343;Eurexp|euxassay_012341|anterior, midgut, olfactory, otic capsule, pituitary, stomach, turbinate bones	OMIM|610742
RG-div2	PARD3B	1.688481265	1.89E-15	Unclassified	BrainSpLMD|117583;Eurexp|euxassay_009412|olfactory, ventricular layer, vomeronasal organ	SFARI||Autism, 3 - Suggestive evidence
RG-div2	TULP3	0.613568982	1.89E-15	Transcription regulatory protein	BrainSpLMD|7289	OMIM|604730
RG-div2	ANKFN1	1.479073673	2.11E-15	Unclassified	BrainSpLMD|162282	
RG-div2	SPRED1	1.11264461	2.22E-15	Unclassified	BrainSpLMD|161742	OMIM|609291;HPO|161742|Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Axillary freckling, Cafe-au-lait spot, Downslanted palpebral fissures, Epicanthus, Generalized hypotonia, High, narrow palate, Hypertelorism, Low posterior hairline, Low-set, posteriorly rotated ears, Macrocephaly, Micrognathia, Multiple lipomas, Neurofibromas, Ptosis, Short neck, Specific learning disability, Triangular face
RG-div2	GPR56	0.887156659	2.33E-15			
RG-div2	HAT1	0.748027791	2.33E-15	Enzyme: Acyltransferase	BrainSpLMD|8520;Eurexp|euxassay_015562|brain, cerebral cortex, diencephalon, forebrain, hindbrain, liver, lung, medullary region, midbrain, optic II, optic stalk, telencephalon, testis, thymus primordium	OMIM|603053
RG-div2	RHEB	0.697232932	2.33E-15	GTPase	BrainSpLMD|6009;Eurexp|euxassay_000326|basioccipital bone, basisphenoid bone, dorsal root ganglion, midbrain, nucleus pulposus, olfactory lobe, otic capsule, ventricular layer;BrainSpMouseDev|19507	OMIM|601293
RG-div2	PDIA6	0.844586485	2.44E-15	Enzyme: Isomerase	BrainSpLMD|10130	OMIM|611099
RG-div2	FAM19A5	0.703082005	2.44E-15	Chemokine	BrainSpLMD|25817;Eurexp|euxassay_011592|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, marginal layer, spinal cord, trigeminal V, vagus X	OMIM|617499
RG-div2	RGS20	1.549496343	2.55E-15	GTPase activating protein	BrainSpLMD|8601;Eurexp|euxassay_009661|ventricular layer	OMIM|607193
RG-div2	KIF15	0.84034137	2.55E-15	Cell cycle control protein	BrainSpLMD|56992	OMIM|617569
RG-div2	NCKAP5	0.691235414	2.55E-15	Unclassified	BrainSpLMD|344148;Eurexp|euxassay_016857|brain, cochlea, epithelium, left lung, otic capsule, retina, right lung, spinal cord	SFARI||Autism, 4 - Minimal evidence;OMIM|608789
RG-div2	TECR	1.153902037	2.89E-15	Enzyme: Reductase	BrainSpLMD|9524;Eurexp|euxassay_004555|cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, marginal layer, neural retina, nucleus pulposus, rib, right lung, stroma, submandibular gland primordium, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610057;HPO|9524|Autosomal recessive inheritance, Delayed speech and language development, Intellectual disability, Narrow palate
RG-div2	LDHA	0.610143668	2.89E-15	Enzyme: Dehydrogenase	BrainSpLMD|3939	OMIM|150000;HPO|3939|Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise intolerance, Increased serum lactate, Increased serum pyruvate, Juvenile onset, Muscle cramps, Muscle stiffness, Myalgia, Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Rigidity
RG-div2	RALGAPA2	0.699380294	3.00E-15	Unclassified	BrainSpLMD|57186	
RG-div2	CDH23	1.903693375	3.33E-15	Adhesion molecule	BrainSpLMD|64072;Eurexp|euxassay_009003|mantle layer, naris, olfactory;BrainSpMouseDev|22052	OMIM|605516;HPO|64072|Abnormal electroretinogram, Abnormality of cochlea, Abnormality of hair density, Abnormality of the eye, Abnormality of the menstrual cycle, Acne, Adrenal hyperplasia, Adrenocorticotropic hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Anxiety, Aplasia/Hypoplasia of the cerebellum, Ataxia, Autosomal recessive inheritance, Bruising susceptibility, Cataract, Decreased circulating ACTH level, Decreased female libido, Decreased fertility in females, Decreased fertility in males, Depressivity, Diabetes mellitus, Dyspareunia, Easy fatigability, Enlarged pituitary gland, Failure to thrive, Fatigue, Female hypogonadism, Galactorrhea, Generalized hirsutism, Global developmental delay, Goiter, Gynecomastia, Headache, Hearing impairment, Hemianopia, High-grade hypermetropia, Hyperhidrosis, Hypertension, Hypogonadotrophic hypogonadism, Hypokalemia, Hypotension, Immunodeficiency, Impotence, Increased thyroid-stimulating hormone level, Infertility, Intellectual disability, Iris hypopigmentation, Lipodystrophy, Male hypogonadism, Menorrhagia, Metrorrhagia, Nephrolithiasis, Nyctalopia, Osteopenia, Osteoporosis, Pallor, Palpitations, Pituitary adenoma, Pituitary hypothyroidism, Prelingual sensorineural hearing impairment, Progressive visual loss, Recurrent fractures, Rod-cone dystrophy, Round face, Schizophrenia, Scotoma, Secondary growth hormone deficiency, Sensorineural hearing impairment, Thin skin, Thyroid crisis, Tremor, Truncal obesity, Vestibular dysfunction, Vestibular hypofunction, Visual loss, Vomiting, Weight loss
RG-div2	CTNNA1	0.666018612	3.33E-15	Cytoskeletal protein	BrainSpLMD|1495;Eurexp|euxassay_018188|embryo	OMIM|116805;HPO|1495|Autosomal dominant inheritance
RG-div2	CHAF1B	1.351079691	3.77E-15	Chaperone	BrainSpLMD|8208;Eurexp|euxassay_005069|incisor, marginal layer, molar, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|601245
RG-div2	LAMA3	2.222701598	3.89E-15	Extracellular matrix protein	BrainSpLMD|3909;Eurexp|euxassay_011044|epidermis, epithelium, floorplate, incisor, lung, naris, nasal septum, oesophagus, oral epithelium, pharyngo-tympanic tube, urethra, vibrissa;BrainSpMouseDev|16546	OMIM|600805;HPO|3909|Abnormal blistering of the skin, Abnormality of skin pigmentation, Abnormality of the eye, Amelogenesis imperfecta, Anemia, Anonychia, Aplasia cutis congenita, Atrophic scars, Autosomal recessive inheritance, Camptodactyly of finger, Carious teeth, Congenital localized absence of skin, Congenital onset, Death in infancy, Dehydration, Dyspnea, Esophageal stricture, Failure to thrive, Feeding difficulties, Fragile nails, Heterogeneous, Hoarse cry, Hoarse voice, Hypodontia, Hypoplasia of dental enamel, Infantile onset, Junctional split, Laryngeal stenosis, Laryngeal stridor, Milia, Nail dysplasia, Nail dystrophy, Oral mucosal blisters, Palmar hyperhidrosis, Paronychia, Plantar hyperkeratosis, Pyloric stenosis, Recurrent loss of toenails and fingernails, Scarring alopecia of scalp, Skin erosion, Skin ulcer, Sparse body hair, Weak cry
RG-div2	CNTNAP3B	1.513485637	4.00E-15			
RG-div2	ANKRD32	0.736007965	4.11E-15			
RG-div2	IL33	0.651032973	4.33E-15	Unclassified	Eurexp|euxassay_011591|capsule, cortex, endolymphatic duct, lip, mesentery, midgut, olfactory, skeletal muscle, utricle	OMIM|608678
RG-div2	TSPAN6	0.814512415	4.55E-15	Cell surface receptor	BrainSpLMD|7105;Eurexp|euxassay_004870|incisor, mandible, maxilla, molar	OMIM|300191
RG-div2	ASPM	0.286481369	5.00E-15	Unclassified	BrainSpLMD|259266	SFARI||Autism, 3 - Suggestive evidence;OMIM|605481;HPO|259266|Abnormal cortical bone morphology, Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Congenital onset, Cortical gyral simplification, Delayed speech and language development, Global developmental delay, Heterotopia, Highly arched eyebrow, Hyperreflexia, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Motor delay, Narrow forehead, Pachygyria, Proptosis, Short stature, Sloping forehead, Small cerebral cortex, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
RG-div2	MIS18BP1	0.663797401	5.44E-15	Transcription regulatory protein	BrainSpLMD|55320;Eurexp|euxassay_004198|ventricular layer	
RG-div2	ADHFE1	1.762718331	5.55E-15	Enzyme: Dehydrogenase	BrainSpLMD|137872;Eurexp|euxassay_018617|basisphenoid bone, calyces, exoccipital bone, meninges, nucleus pulposus, orbito-sphenoid, otic capsule, pectoral girdle and thoracic body wall, rib, skeletal muscle, supraoccipital cartilage condensation, turbinate, turbinate bones, ventral grey horn, ventricular layer	OMIM|611083
RG-div2	LDLR	0.835514291	6.22E-15	Cell surface receptor	BrainSpLMD|3949;Eurexp|euxassay_010458|adrenal gland, cervical, cervico-thoracic, clavicle, hindgut, incisor, mandible, maxilla, metanephros, midgut, orbito-sphenoid, otic capsule, rib, submandibular gland primordium, thoracic, turbinate, ventral grey horn	OMIM|606945;HPO|3949|Abnormality of internal carotid artery, Angina pectoris, Aortic atherosclerosis, Autosomal dominant inheritance, Cerebral artery atherosclerosis, Corneal arcus, Coronary atherosclerosis, Dyspnea, Heart murmur, Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia, Hypertension, Increased circulating low-density lipoprotein levels, Left ventricular failure, Myocardial infarction, Myocardial steatosis, Peripheral arterial stenosis, Precocious atherosclerosis, Premature arteriosclerosis, Premature coronary artery disease, Renal artery stenosis, Sudden cardiac death, Xanthelasma
RG-div2	CEP152	1.268924909	6.33E-15	Unclassified	Eurexp|euxassay_011313|axial skeleton, basioccipital bone, choroid invagination, choroid plexus, epithelium, femur, humerus, inner ear, olfactory, pelvic girdle, pituitary, roof plate, scapula, vomeronasal organ	OMIM|613529;HPO|22995|Abnormal cortical bone morphology, Abnormal cortical gyration, Abnormality of dental enamel, Absent earlobe, Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Bimanual synkinesia, Cachexia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Heterotopia, High palate, Hip dysplasia, Hyperreflexia, Hypodontia, Hypoplasia of the frontal lobes, Impulsivity, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint hyperflexibility, Large beaked nose, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Oligodontia, Pachygyria, Prematurely aged appearance, Prominent nasal bridge, Reduced number of teeth, Retrognathia, Sandal gap, Short stature, Sloping forehead, Sparse scalp hair, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
RG-div2	CEP135	0.525740636	6.33E-15	Unclassified	BrainSpLMD|9662	SFARI||Autism, 3 - Suggestive evidence;OMIM|611423;HPO|9662|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Congenital onset, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, severe, Microcephaly, Pachygyria, Retrognathia, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
RG-div2	LIG1	1.756307886	7.33E-15	DNA ligase	BrainSpLMD|3978;Eurexp|euxassay_018504|marginal layer, thymus primordium, ventricular layer	OMIM|126391
RG-div2	TMX1	0.660145599	7.33E-15	Enzyme: Oxidoreductase	BrainSpLMD|81542	OMIM|610527
RG-div2	HAUS5	0.881236289	7.88E-15	Unclassified	BrainSpLMD|23354	OMIM|613432
RG-div2	MPPED2	0.791260065	7.88E-15	Enzyme: Hydrolase	BrainSpLMD|744;Eurexp|euxassay_014223|axial skeleton, head mesenchyme, rib, thyroid, ventricular layer	OMIM|600911
RG-div2	IQGAP3	0.486005572	7.88E-15	GTPase activating protein	BrainSpLMD|128239	SFARI||Autism, 4 - Minimal evidence
RG-div2	CSMD2	0.704435683	8.33E-15	Unclassified	BrainSpLMD|114784;Eurexp|euxassay_013347|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X	OMIM|608398
RG-div2	PDHB	0.783819045	8.99E-15	Enzyme: Decarboxylase	BrainSpLMD|5162	OMIM|179060;HPO|5162|Autosomal recessive inheritance, Generalized hypotonia, Lactic acidosis
RG-div2	THRAP3	0.312727983	9.21E-15	Transcription regulatory protein	BrainSpLMD|9967	OMIM|603809;COSMIC||aneurysmal bone cyst
RG-div2	NLGN4X	0.691237232	1.02E-14	Adhesion molecule;Integral membrane protein	BrainSpLMD|57502	SFARI||Autism, 3 - Suggestive evidence;OMIM|300427;HPO|57502|Autism, Childhood onset, Delayed speech and language development, EEG abnormality, Heterogeneous, Impaired use of nonverbal behaviors, Increased serum serotonin, Inflexible adherence to routines or rituals, Intellectual disability, Lack of peer relationships, Lack of spontaneous play, Multifactorial inheritance, Restrictive behavior, Seizures, Sporadic, Stereotypy, X-linked inheritance
RG-div2	NDUFB3	0.577018851	1.14E-14	Enzyme: Oxidoreductase	BrainSpLMD|4709	OMIM|603839;HPO|4709|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
RG-div2	TOB1	0.381678064	1.15E-14	Adapter molecule	BrainSpLMD|10140	OMIM|605523
RG-div2	NR2E1	1.497914153	1.17E-14	Nuclear receptor	BrainSpLMD|7101;Eurexp|euxassay_007190|epidermis, olfactory, retina, ventricular layer;BrainSpMouseDev|21664	OMIM|603849
RG-div2	ITGB5	1.375299637	1.22E-14	Adhesion molecule	BrainSpLMD|3693	OMIM|147561
RG-div2	NOTCH1	1.063388015	1.22E-14	Cell surface receptor	BrainSpLMD|4851;Eurexp|euxassay_018738|cochlea, cornea, cortex, epidermis, epithelium, incisor, left lung, molar, olfactory, rest of skin, retina, right lung, submandibular gland primordium, thymus primordium, utricle, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|17895	OMIM|190198;COSMIC||T-ALL, breast, bladder, skin SCC, lung SCC, head and neck SCC;HPO|4851|Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis, Aplasia cutis congenita, Autosomal dominant inheritance, Bicuspid aortic valve, Brachydactyly, Calvarial skull defect, Cataract, Cavernous hemangioma, Coarctation of aorta, Cutis marmorata, Cutis marmorata telangiectatica congenita, Dilatation of the aortic arch, Dystrophic toenail, Failure to thrive, Finger syndactyly, Heart murmur, Hydrocephalus, Hypertension, Microphthalmia, Phenotypic variability, Pulmonary arterial hypertension, Pulmonary artery atresia, Pulmonic stenosis, Right ventricular hypertrophy, Short distal phalanx of finger, Sparse hair, Split hand, Strabismus, Syndactyly, Talipes, Tetralogy of Fallot, Thoracic aorta calcification
RG-div2	SEMA5A	0.779598544	1.34E-14	Unclassified	BrainSpLMD|9037;BrainSpMouseDev|20119	SFARI||Autism, 3 - Suggestive evidence;OMIM|609297;HPO|9037|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
RG-div2	SEMA5B	1.039768525	1.35E-14	Integral membrane protein	BrainSpLMD|54437;BrainSpMouseDev|20120	OMIM|609298
RG-div2	2-Sep	0.654027468	1.44E-14			
RG-div2	YBX3	1.202849904	1.45E-14	DNA binding protein	BrainSpLMD|8531	OMIM|603437
RG-div2	MAD2L1	0.957631522	1.47E-14	Cell cycle control protein	BrainSpLMD|4085	OMIM|601467
RG-div2	AHI1	0.797706569	1.54E-14	Adapter molecule	BrainSpLMD|54806;Eurexp|euxassay_005590|brain, cervical, cervico-thoracic, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V;BrainSpMouseDev|32386	SFARI||Autism, No category;OMIM|608894;HPO|54806|Abnormal electroretinogram, Anteverted nares, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Central apnea, Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Enlarged fossa interpeduncularis, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Heterogeneous, Highly arched eyebrow, Intellectual disability, Long face, Low-set ears, Molar tooth sign on MRI, Motor delay, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nystagmus, Oculomotor apraxia, Open mouth, Pigmentary retinopathy, Ptosis, Retinal dystrophy, Stage 5 chronic kidney disease, Visual impairment, Wide nasal bridge
RG-div2	TMEM106C	0.934483339	1.57E-14	Unclassified	BrainSpLMD|79022	
RG-div2	UNG	1.082318887	1.58E-14	DNA binding protein;DNA repair protein	BrainSpLMD|7374;Eurexp|euxassay_006557|cortex, incisor, lung, marginal layer, midgut, molar, olfactory, pancreas, rectum, stomach, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|191525;HPO|7374|Autosomal recessive inheritance, Epididymitis, IgA deficiency, IgG deficiency, Immunodeficiency, Impaired Ig class switch recombination, Increased IgM level, Lymphadenopathy, Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections
RG-div2	LRRC58	0.510527812	1.60E-14	Unclassified		
RG-div2	RGS16	1.111446978	1.81E-14	GTPase activating protein	BrainSpLMD|6004;Eurexp|euxassay_006229|diaphragm, dorsal grey horn, lip, mantle layer, marginal layer, mesenchyme, neural retina, skeletal muscle, ventricular layer, vertebral axis muscle system	OMIM|602514
RG-div2	POLE2	0.821734079	1.87E-14	DNA polymerase	BrainSpLMD|5427;Eurexp|euxassay_006546|choroid invagination, choroid plexus, diaphragm, extrinsic, intrinsic, mesenchyme, paraxial mesenchyme, roof plate, vertebral axis muscle system	OMIM|602670
RG-div2	RHOA	0.471782352	1.87E-14	GTPase	BrainSpLMD|387;BrainSpMouseDev|11635	OMIM|165390;COSMIC||diffuse gastric, T cell lymphomas, paediatric Burkitt lymphoma
RG-div2	SNRPGP2	0.494900318	1.88E-14			
RG-div2	ALDOA	0.637778411	1.97E-14	Enzyme: Lyase;Enzyme: Aldolase	BrainSpLMD|226	OMIM|103850;HPO|226|Autosomal recessive inheritance, Cholecystitis, Cholelithiasis, Delayed puberty, Epicanthus, Jaundice, Low posterior hairline, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Ptosis, Short neck, Short stature, Splenomegaly
RG-div2	CPNE2	1.141031982	2.03E-14	Transport/cargo protein	BrainSpLMD|221184;Eurexp|euxassay_001619|choroid plexus, marginal layer, ventricular layer;BrainSpMouseDev|87854	OMIM|604206
RG-div2	ATP2B4	0.892792115	2.03E-14	ATPase	BrainSpLMD|493;Eurexp|euxassay_013200|lobe, ventral grey horn	OMIM|108732
RG-div2	GLUD1	0.708225942	2.07E-14	Enzyme: Dehydrogenase	BrainSpLMD|2746	OMIM|138130;HPO|2746|Asymptomatic hyperammonemia, Autosomal dominant inheritance, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability
RG-div2	IMPDH2	0.633938175	2.12E-14	Enzyme: Dehydrogenase	BrainSpLMD|3615	OMIM|146691
RG-div2	LRRTM3	1.294961425	2.22E-14	Integral membrane protein	BrainSpLMD|347731;Eurexp|euxassay_006601|lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, midgut, palatal shelf, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|610869
RG-div2	TGIF2	1.001589467	2.26E-14	Transcription factor	BrainSpLMD|60436;Eurexp|euxassay_019508|axial skeleton, cornea, epithelium, incisor, lung, marginal layer, metanephros, molar, neural retina, oesophagus, olfactory, phalanx, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|86790	OMIM|607294
RG-div2	GPC6	1.253344633	2.34E-14	Growth factor	BrainSpLMD|10082	SFARI||Autism, 4 - Minimal evidence;OMIM|604404;HPO|10082|Anterolateral radial head dislocation, Atrial septal defect, Autosomal recessive inheritance, Axillary pterygia, Blepharophimosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Fibular hypoplasia, Flat face, Frontal bossing, Hemangioma, Hypoplastic distal humeri, Increased fibular diameter, Limited elbow extension, Limited elbow flexion, Limited elbow flexion/extension, Limited hip movement, Limited knee extension, Limited knee flexion, Limited knee flexion/extension, Long philtrum, Malar flattening, Micrognathia, Popliteal pterygium, Pulmonary artery stenosis, Rhizomelia, Short humerus, Short neck, Short nose, Short tibia, Umbilical hernia, Ventricular septal defect, Wide nasal bridge
RG-div2	CBX5	0.378879051	2.58E-14	DNA binding protein	BrainSpLMD|23468	OMIM|604478
RG-div2	ACAT2	0.737094231	2.95E-14	Enzyme: Acyltransferase	BrainSpLMD|39;Eurexp|euxassay_010142|brain, cervical, cervico-thoracic, chondrocranium, dorsal root ganglion, facial VII, foregut-midgut junction, glomeruli, glossopharyngeal IX, head mesenchyme, hindgut, incisor, left lung, liver, lobe, marginal layer, mesenchyme, metanephros, midgut, neural retina, right lung, spinal cord, stomach, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|100678;HPO|39|Chorea, Generalized hypotonia, Global developmental delay, Increased serum lactate, Increased serum pyruvate, Sporadic
RG-div2	ADK	1.062112592	2.96E-14	Enzyme: Phosphotransferase	BrainSpLMD|132;Eurexp|euxassay_001699|Meckel's cartilage, basisphenoid bone, bladder, cortex, exoccipital bone, foregut-midgut junction, hindgut, lobe, lung, midgut, molar, nucleus pulposus, oesophagus, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, rectum, rib, stomach, submandibular gland primordium, thymus primordium, vault of skull, ventricular layer, vertebra	SFARI||Autism, 4 - Minimal evidence;OMIM|102750;HPO|132|Autosomal recessive inheritance, Cerebral atrophy, Cholestasis, Decreased liver function, Delayed speech and language development, Elevated hepatic transaminases, Failure to thrive, Frontal bossing, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Hypertelorism, Infantile onset, Macrocephaly, Narrow foot, Poor speech, Portal fibrosis, Progressive, Seizures, Skeletal muscle atrophy
RG-div2	HMGA2	1.654203343	2.99E-14	Transcription factor	BrainSpLMD|8091;Eurexp|euxassay_003865|axial skeleton, cochlea, cortex, fibula, handplate, hindgut, humerus, lung, metanephros, metatarsus, midgut, oesophagus, pancreas, pelvic girdle, phalanx, pituitary, rib, stomach, sublingual gland primordium, thymus primordium, thyroid, tibia, trachea, turbinate bones, ventricular layer;BrainSpMouseDev|15139	OMIM|600698;COSMIC||lipoma, leiomyoma, pleomorphic salivary gland adenoma;HPO|8091|Autosomal dominant inheritance, Delayed speech and language development, Failure to thrive, Global developmental delay, Hyperpigmentation of the skin, Hypertelorism, Intellectual disability, mild, Intrauterine growth retardation, Osteopoikilosis, Short stature, Somatic mutation, Specific learning disability, Subcutaneous nodule, Tremor, Uterine leiomyoma
RG-div2	POLD2	1.107505259	3.08E-14	DNA polymerase	BrainSpLMD|5425	OMIM|600815
RG-div2	RHEBP2	0.647748642	3.24E-14			
RG-div2	ANGPTL1	1.591545218	3.33E-14	Secreted polypeptide	BrainSpLMD|9068;Eurexp|euxassay_011312|axial skeleton, basioccipital bone, basisphenoid bone, cartilaginous ring, diaphragm, greater sac, handplate, mesenchyme, midgut, naris, oesophagus, orbito-sphenoid, otic capsule, peritoneal cavity, rectum, rib, skeletal muscle, sternum, turbinate bones, valve;BrainSpMouseDev|48554	OMIM|603874
RG-div2	DNAJC1	1.23683518	3.34E-14	Chaperone	BrainSpLMD|64215	OMIM|611207
RG-div2	ATL3	0.863496994	3.44E-14	Unclassified	BrainSpLMD|25923;Eurexp|euxassay_001705|orbito-sphenoid, ventricular layer	OMIM|609369;HPO|25923|Autosomal dominant inheritance, Hallux valgus, Hyperkeratosis, Hyporeflexia of lower limbs, Osteolytic defects of the phalanges of the hand, Osteomyelitis, Sensory axonal neuropathy
RG-div2	GJC1	0.424924743	3.71E-14	Transport/cargo protein	BrainSpLMD|10052;Eurexp|euxassay_012257|cortex, incisor, mantle layer, trachea, ventricular layer	OMIM|608655
RG-div2	RFC2	1.034922947	3.90E-14	DNA binding protein	BrainSpLMD|5982	OMIM|600404;HPO|5982|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the neck, Anxiety, Arthralgia, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad forehead, Cerebral ischemia, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Dental malocclusion, Depressivity, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Epicanthus, Everted lower lip vermilion, Failure to thrive in infancy, Gait imbalance, Genu valgum, Hallux valgus, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Inguinal hernia, Insomnia, Intellectual disability, Joint stiffness, Kyphosis, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Microcephaly, Microdontia, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Open bite, Overfriendliness, Pelvic kidney, Periorbital edema, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Proteinuria, Protruding ear, Pulmonic stenosis, Redundant skin, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Visual impairment, Wide mouth, Wide nasal bridge
RG-div2	PARP4	1.017455021	4.76E-14	Enzyme: Ribosyltransferase	BrainSpLMD|143	OMIM|607519
RG-div2	PEG3	0.415899785	4.94E-14	Transcription factor	BrainSpLMD|5178	OMIM|601483
RG-div2	EGR1	0.879745243	5.01E-14	Transcription factor	BrainSpLMD|1958;Eurexp|euxassay_008911|mesenchyme;BrainSpMouseDev|13431	OMIM|128990
RG-div2	RRM2	1.252254047	5.12E-14	Cell cycle control protein	BrainSpLMD|6241;Eurexp|euxassay_004733|footplate, handplate, hindbrain, leg, liver, lung, mantle layer, mesenchyme, metanephros, olfactory, retina, spinal cord, tail, ventricular layer, vibrissa	OMIM|180390
RG-div2	PSME1	0.555172849	5.22E-14	Ubiquitin proteasome system protein	BrainSpLMD|5720	OMIM|600654
RG-div2	TPM2	1.785923381	5.34E-14	Cytoskeletal protein	BrainSpLMD|7169	OMIM|190990;HPO|7169|Abnormality of the ear, Abnormality of the hip bone, Absent phalangeal crease, Adducted thumb, Aplasia/Hypoplasia of the radius, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bulbar palsy, Calcaneovalgus deformity, Camptodactyly, Camptodactyly of finger, Centrally nucleated skeletal muscle fibers, Childhood onset, Congenital onset, Decreased fetal movement, Difficulty walking, Dilated cardiomyopathy, Distal arthrogryposis, Downslanted palpebral fissures, Dysphagia, Elbow flexion contracture, Facial diplegia, Facial palsy, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Generalized muscle weakness, Gowers sign, Heterogeneous, High palate, Hyporeflexia, Joint stiffness, Kyphoscoliosis, Limb muscle weakness, Long face, Long philtrum, Lumbar hyperlordosis, Mandibular prognathia, Metatarsus adductus, Micrognathia, Motor delay, Muscular hypotonia, Myopathic facies, Myopathy, Narrow face, Narrow mouth, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Overlapping fingers, Pectus excavatum, Prominent nasolabial fold, Protruding ear, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Reduced tendon reflexes, Reduced vital capacity, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Rocker bottom foot, Round ear, Scapular winging, Scoliosis, Short neck, Short stature, Skeletal muscle atrophy, Talipes, Talipes equinovarus, Tarsal synostosis, Triangular face, Type 1 fibers relatively smaller than type 2 fibers, Type 1 muscle fiber predominance, Ulnar deviation of finger, Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the wrist, Variable expressivity, Vertebral segmentation defect, Waddling gait, Weak cry, Webbed neck, Wide nasal bridge
RG-div2	SREK1	0.422442174	5.78E-14	RNA binding protein	BrainSpLMD|140890	OMIM|609268
RG-div2	ITGB3BP	1.071283507	5.85E-14	Transcription regulatory protein	BrainSpLMD|23421	OMIM|605494
RG-div2	AHCY	1.26373756	6.48E-14	Enzyme: Hydrolase	BrainSpLMD|191;Eurexp|euxassay_008402|embryo	OMIM|180960;HPO|191|Abnormal facial shape, Abnormality of the dentition, Autosomal recessive inheritance, Cardiomyopathy, Failure to thrive, Global developmental delay, Hypermethioninemia, Intellectual disability, Motor delay
RG-div2	CLIC1	0.79421731	6.62E-14	Intracellular ligand gated channel	BrainSpLMD|1192	OMIM|602872
RG-div2	FHOD3	1.113441289	7.59E-14	Regulatory/other subunit	Eurexp|euxassay_000020|axial skeleton, basal columns, capsule, cardiac muscle, dermal component, duodenum, facial VII, foregut, glossopharyngeal IX, hindgut, inferior, mantle layer, medulla, medullary tubules, midgut, muscle, skeletal muscle, trigeminal V, vagus X, ventricular layer, vertebral cartilage condensation, vestibulocochlear VIII	OMIM|609691
RG-div2	HNRNPF	0.517145517	7.64E-14	Ribonucleoprotein	BrainSpLMD|3185	OMIM|601037
RG-div2	SLC9A3R1	1.218859333	7.79E-14	Membrane bound ligand	BrainSpLMD|9368;Eurexp|euxassay_012152|calyces, epithelium, incisor, liver, marginal layer, mesothelium, midgut, molar, olfactory, pharyngo-tympanic tube, pituitary, rectum, stomach, thymus primordium, trigeminal V, urogenital mesentery, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|26686	OMIM|604990;HPO|9368|Autosomal dominant inheritance, Hyperphosphaturia, Hypophosphatemia, Increased susceptibility to fractures, Nephrolithiasis, Osteopenia, Osteoporosis, Renal phosphate wasting
RG-div2	NSRP1	0.29887637	8.98E-14	Unclassified	BrainSpLMD|84081	OMIM|616173
RG-div2	HAUS6	0.936137736	9.73E-14	Unclassified	BrainSpLMD|54801	OMIM|613433
RG-div2	ELOVL2	1.473856726	9.77E-14	Unclassified	BrainSpLMD|54898;Eurexp|euxassay_006217|adenohypophysis, brain, calyces, cervical, cervico-thoracic, left, olfactory, right, spinal cord, thoracic, thyroid	OMIM|611814
RG-div2	UQCC2	0.755848036	1.08E-13	Unclassified	BrainSpLMD|84300;Eurexp|euxassay_000835|basal plate, epidermal component, facial VII, submandibular gland primordium, trigeminal V, ventricular layer	OMIM|614461;HPO|84300|Aggressive behavior, Autosomal recessive inheritance, Cryptorchidism, Depressed nasal bridge, Epicanthus, Global developmental delay, Hyperactivity, Infantile onset, Intrauterine growth retardation, Metabolic acidosis, Neonatal hypotonia, Poor speech, Postaxial polydactyly, Proximal renal tubular acidosis, Seizures, Synophrys, Upslanted palpebral fissure
RG-div2	RPS27L	0.418222879	1.09E-13	Unclassified	BrainSpLMD|51065;Eurexp|euxassay_013950|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, pancreas, primitive seminiferous tubules, rest of mesenchyme, right lung, skeletal muscle, submandibular gland primordium, thymus primordium, tongue, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|612055
RG-div2	GNG12	1.484929051	1.17E-13	G protein	BrainSpLMD|55970;Eurexp|euxassay_002072|ventricular layer	OMIM|615405
RG-div2	FABP5P1	0.425729521	1.20E-13			
RG-div2	CPT1A	0.668779952	1.39E-13	Enzyme: Palmitoyltransferase	BrainSpLMD|1374;Eurexp|euxassay_017982|adrenal gland, bladder, choroid plexus, dorsal root ganglion, glossopharyngeal IX, hindgut, intermediate grey horn, mantle layer, meninges, metanephros, midgut, pancreas, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|600528;HPO|1374|Arrhythmia, Autosomal recessive inheritance, Behavioral abnormality, Cardiomegaly, Coma, Diarrhea, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Fatigue, Feeding difficulties in infancy, Generalized hypotonia, Hemiplegia/hemiparesis, Hepatic failure, Hepatic steatosis, Hepatomegaly, Hyperammonemia, Hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Loss of consciousness, Muscular hypotonia, Neurological speech impairment, Prenatal maternal abnormality, Recurrent encephalopathy, Reduced tendon reflexes, Renal tubular acidosis, Seizures, Skeletal muscle atrophy, Transient hyperlipidemia
RG-div2	ALDH9A1	1.223976371	1.40E-13	Enzyme: Dehydrogenase	BrainSpLMD|223	OMIM|602733
RG-div2	SKP2	1.319324843	1.45E-13	Ubiquitin proteasome system protein	BrainSpLMD|6502	OMIM|601436
RG-div2	ZGRF1	1.031871991	1.54E-13	Unclassified	BrainSpLMD|55345;Eurexp|euxassay_012482|ventricular layer	
RG-div2	STAG2	0.711855462	1.59E-13	Cell cycle control protein	BrainSpLMD|10735;Eurexp|euxassay_016892|ventricular layer	OMIM|300826;COSMIC||bladder carcinoma, glioblastoma, melanoma, Ewing's sarcoma, myeloid neoplasms
RG-div2	E2F3	1.503733106	1.67E-13	Transcription factor	BrainSpLMD|1871;BrainSpMouseDev|13336	OMIM|600427
RG-div2	ARHGEF6	1.743190953	1.71E-13	Guanine nucleotide exchange factor	BrainSpLMD|9459	OMIM|300267;HPO|9459|Intellectual disability, X-linked recessive inheritance
RG-div2	KIF11	1.131504677	1.88E-13	Motor protein	BrainSpLMD|3832	OMIM|148760;HPO|3832|Abnormal toenail morphology, Abnormality of retinal pigmentation, Anteverted nares, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Broad nasal tip, Chorioretinal dysplasia, Cortical gyral simplification, Deep philtrum, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Flat occiput, Global developmental delay, Intellectual disability, Intellectual disability, mild, Leukonychia, Long philtrum, Lymphedema, Mandibular prognathia, Melanonychia, Microcephaly, Muscular hypotonia, Myopia, Protruding ear, Sloping forehead, Specific learning disability, Thick lower lip vermilion, Thin upper lip vermilion
RG-div2	FAM219A	0.424302072	2.02E-13	Unclassified	BrainSpLMD|203259	
RG-div2	SEMA6A	0.638651863	2.04E-13	Integral membrane protein	BrainSpLMD|57556;Eurexp|euxassay_011666|axial skeleton, clavicle, cochlea, mandible, mantle layer, marginal layer, maxilla, meninges, mesenchyme, metanephros, neural retina, palatal shelf, skeletal muscle, submandibular gland primordium, thyroid, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|20121	OMIM|605885
RG-div2	NEDD9	0.621976176	2.06E-13	Adhesion molecule	BrainSpLMD|4739;Eurexp|euxassay_006351|aorta, calyces, cortex, epithelium, incisor, left lung, mesenchyme, midgut, molar, olfactory, pelvis, rectum, retina, right lung, sternum, stomach, thymus primordium, thyroid, trachea, ureter, ventricular layer, vibrissa, vomeronasal organ	OMIM|602265
RG-div2	ARL6IP6	1.358788235	2.07E-13	Unclassified	BrainSpLMD|151188;Eurexp|euxassay_011620|olfactory, submandibular gland primordium, ventricular layer	OMIM|616495
RG-div2	GAREML	0.610593177	2.22E-13			
RG-div2	GGH	0.752634015	2.28E-13	Enzyme: Hydrolase	BrainSpLMD|8836	OMIM|601509
RG-div2	TCF19	0.843280065	2.29E-13	Transcription factor	BrainSpLMD|6941	OMIM|600912
RG-div2	RAB8B	0.572976321	2.30E-13	GTPase	BrainSpLMD|51762	OMIM|613532
RG-div2	DTD2	1.312034931	2.33E-13	Enzyme: Hydrolase	BrainSpLMD|112487	
RG-div2	IQSEC1	1.442722114	2.37E-13	Guanine nucleotide exchange factor	BrainSpLMD|9922;Eurexp|euxassay_014196|mantle layer, naris, orbito-sphenoid, otic capsule, turbinate bones, ventricular layer, vestibulocochlear VIII	OMIM|610166
RG-div2	DIAPH3	1.367445093	2.44E-13	Unclassified	BrainSpLMD|81624;Eurexp|euxassay_012699|incisor, molar, pituitary, submandibular gland primordium, ventricular layer, vibrissa	SFARI||Autism, 5 - Hypothesized but untested;OMIM|614567;HPO|81624|Abnormal auditory evoked potentials, Abnormal speech discrimination, Absence of acoustic reflex, Autosomal dominant inheritance, Sensorineural hearing impairment
RG-div2	VAT1L	1.845547675	2.67E-13	Unclassified	BrainSpLMD|57687;Eurexp|euxassay_004685|adenohypophysis, body-wall mesenchyme, cervical, cervico-thoracic, choroid plexus, dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, lateral recess, mantle layer, marginal layer, mesenchyme, thoracic, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|92920	
RG-div2	SDCBP	0.600596126	2.75E-13	Adapter molecule	BrainSpLMD|6386;Eurexp|euxassay_008333|naris, olfactory, respiratory	OMIM|602217
RG-div2	CASC5	0.785745341	2.89E-13			
RG-div2	DFNB31	1.274788198	3.15E-13			
RG-div2	PFN1P1	0.384506791	3.28E-13			
RG-div2	SUPT16H	0.406696185	3.36E-13	Transcription factor	BrainSpLMD|11198;Eurexp|euxassay_019556|axial skeleton, dorsal grey horn, hindgut, incisor, lobe, lung, marginal layer, metanephros, midgut, olfactory, orbito-sphenoid, pancreas, phalanx, stomach, sublingual gland primordium, thymus primordium, urethra, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|77466	OMIM|605012
RG-div2	CNBP	0.569961217	3.46E-13	RNA binding protein	BrainSpLMD|7555	OMIM|116955;COSMIC||aneurysmal bone cyst;HPO|7555|Autosomal dominant inheritance, Cataract, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, Elevated serum creatine phosphokinase, Frontal balding, Hypogonadism, IgG deficiency, IgM deficiency, Insulin insensitivity, Iridescent posterior subcapsular cataract, Myalgia, Myotonia, Neck flexor weakness, Oligospermia, Palpitations, Proximal muscle weakness, Tachycardia, Type 2 muscle fiber atrophy
RG-div2	NUCKS1	0.338584738	3.49E-13	DNA binding protein	BrainSpLMD|64710	OMIM|611912
RG-div2	FBXL7	1.005842864	3.53E-13	Ubiquitin proteasome system protein	BrainSpLMD|23194	OMIM|605656
RG-div2	MTAP	1.170769307	3.69E-13	Enzyme: Phosphorylase	BrainSpLMD|4507;Eurexp|euxassay_003372|axial muscle, cranium, incisor, mantle layer, marginal layer, orbito-sphenoid, submandibular gland primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|156540
RG-div2	SEPN1	1.027454416	4.28E-13			
RG-div2	PRC1	1.082442657	4.31E-13	Cell cycle control protein	BrainSpLMD|9055	OMIM|603484
RG-div2	PDGFD	0.764366041	4.39E-13	Growth factor	BrainSpLMD|80310;BrainSpMouseDev|47626	OMIM|609673
RG-div2	RP3.418C23.2	0.760581626	4.67E-13			
RG-div2	SRRM2	0.509313258	4.87E-13	RNA binding protein	BrainSpLMD|23524;Eurexp|euxassay_008167|embryo	OMIM|606032
RG-div2	DKK3	1.192189435	4.90E-13	Ligand	BrainSpLMD|27122;Eurexp|euxassay_018106|aorta, axial skeleton, femur, humerus, mesenchyme, neural retina, rib, ventricular layer;BrainSpMouseDev|30269	OMIM|605416
RG-div2	HRSP12	0.916169067	4.94E-13			
RG-div2	TMEM194A	0.972109423	5.04E-13			
RG-div2	C1orf198	0.92145838	5.51E-13	Unclassified	BrainSpLMD|84886;Eurexp|euxassay_016413|dorsal root ganglion, neural retina, ventral grey horn, ventricular layer	
RG-div2	ARHGAP5	0.555526118	5.71E-13	GTPase activating protein	BrainSpLMD|394	OMIM|602680;COSMIC||colon cancer, glioma
RG-div2	LPCAT1	0.394633409	5.72E-13	Enzyme: Acyltransferase	BrainSpLMD|79888	OMIM|610472
RG-div2	SFXN5	1.379315916	5.74E-13	Transport/cargo protein	BrainSpLMD|94097;Eurexp|euxassay_014475|ventricular layer	OMIM|615572
RG-div2	HSPH1	0.595987959	6.19E-13	Heat shock protein;Chaperone	BrainSpLMD|10808	OMIM|610703
RG-div2	PTTG1	0.726982555	6.38E-13	Transcription regulatory protein	BrainSpLMD|9232	OMIM|604147
RG-div2	PTGES3	0.392291617	6.52E-13	Chaperone		OMIM|607061
RG-div2	SERBP1	0.463879337	6.83E-13	RNA binding protein	BrainSpLMD|26135	OMIM|607378
RG-div2	RFWD3	0.983963501	6.99E-13	Unclassified	BrainSpLMD|55159	OMIM|614151
RG-div2	ITGA6	1.109371389	7.86E-13	Cell surface receptor	BrainSpLMD|3655;Eurexp|euxassay_012071|cortex, incisor, lung, mantle layer, metanephros, molar, pancreas, penis, rectum, ventral grey horn, ventricle	OMIM|147556;HPO|3655|Abdominal distention, Abnormality of the genitourinary system, Anonychia, Aplasia cutis congenita, Aplasia of the bladder, Arthrogryposis multiplex congenita, Atrophic scars, Autosomal recessive inheritance, Axillary pterygia, Congenital onset, Congenital pyloric atresia, Death in infancy, Ectropion, Elevated maternal serum alpha-fetoprotein, Esophageal atresia, Fragile skin, Hematuria, Hydronephrosis, Hypoplasia of dental enamel, Intestinal atresia, Intractable diarrhea, Junctional split, Milia, Nail dysplasia, Nail dystrophy, Nausea and vomiting, Oral mucosal blisters, Polyhydramnios, Recurrent skin infections, Renal duplication, Renal dysplasia, Ureterocele, Urethral stricture, Urinary bladder inflammation
RG-div2	RPL21P28	0.840794088	8.08E-13			
RG-div2	ACAA2	0.711593279	8.15E-13	Enzyme: Acyltransferase	BrainSpLMD|10449;Eurexp|euxassay_018546|bladder, choroid invagination, choroid plexus, epidermis, epithelium, liver, oral epithelium, roof plate, vibrissa	OMIM|604770
RG-div2	DNAJB1	0.585262404	8.17E-13	Heat shock protein	BrainSpLMD|3337	OMIM|604572;COSMIC||fibrolamellar hepatocellular carcinoma
RG-div2	SQLE	0.56956354	8.18E-13	Enzyme: Oxygenase	BrainSpLMD|6713	OMIM|602019
RG-div2	SPRY2	1.249892325	8.24E-13	Unclassified	BrainSpLMD|10253	OMIM|602466
RG-div2	TJP1	0.400258298	9.49E-13	Cell junction protein	BrainSpLMD|7082;Eurexp|euxassay_018809|brain, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, left lung, meninges, metanephros, right lung, spinal cord, trigeminal V	OMIM|601009
RG-div2	FAM213A	0.676702029	9.56E-13	Unclassified	BrainSpLMD|84293;Eurexp|euxassay_008864|bladder, brain, calyces, cervical, cervico-thoracic, cochlea, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, incisor, left lung, liver, lung, midgut, molar, naris, nasal cavity, naso-lacrimal duct, olfactory, pelvis, pharyngo-tympanic tube, rectum, retina, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thoracic, trigeminal V, ureter, utricle, vagus X, vestibulocochlear VIII, vibrissa	OMIM|617165
RG-div2	CYP51A1	0.958136237	9.95E-13	Unclassified	BrainSpLMD|1595;Eurexp|euxassay_010645|adrenal gland, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, mandible, maxilla, molar, neural retina, spinal cord, testis, thoracic, trigeminal V, vibrissa	OMIM|601637
RG-div2	BIRC5	0.907343931	1.05E-12	Adapter molecule	BrainSpLMD|332	OMIM|603352
RG-div2	PRDX4	0.632496792	1.08E-12	Enzyme: Peroxidase	BrainSpLMD|10549	OMIM|300927
RG-div2	MCM8	0.624626259	1.08E-12	DNA binding protein	BrainSpLMD|84515;Eurexp|euxassay_005154|brain, central nervous system, incisor, lung, metanephros, molar, olfactory, retina, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, tongue, vibrissa	OMIM|608187;HPO|84515|Autosomal recessive inheritance, Azoospermia, Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Hypothyroidism, Premature ovarian insufficiency, Primary amenorrhea
RG-div2	RFC4	0.899486393	1.10E-12	DNA binding protein	BrainSpLMD|5984	OMIM|102577
RG-div2	TCF7L2	0.914134264	1.13E-12	Transcription factor	BrainSpLMD|6934;Eurexp|euxassay_019472|lip, mantle layer, mesenchyme, midgut, pancreas, phalanx, skeletal muscle, sternum, stomach, trachea, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|21177	SFARI||Autism, 3 - Suggestive evidence;OMIM|602228;COSMIC||colorectal
RG-div2	ABCD3	0.798195212	1.14E-12	Integral membrane protein	BrainSpLMD|5825	OMIM|170995;HPO|5825|Autosomal recessive inheritance, Elevated hepatic transaminases, Hepatic failure, Hepatic fibrosis, Hepatomegaly, Infantile onset, Iron deficiency anemia, Jaundice, Progressive, Splenomegaly
RG-div2	FGD5.AS1	0.484193287	1.19E-12			
RG-div2	CKAP2	0.381470006	1.28E-12	Cytoskeletal associated protein	BrainSpLMD|26586;Eurexp|euxassay_001740|thymus primordium, ventricular layer	OMIM|611569
RG-div2	PRDX3	0.515385177	1.29E-12	Enzyme: Peroxidase	BrainSpLMD|10935;Eurexp|euxassay_006583|adrenal gland, liver, ovary, thymus primordium, thyroid	OMIM|604769
RG-div2	ATP6V0E1	0.722866291	1.38E-12	ATPase	BrainSpLMD|8992;Eurexp|euxassay_002321|Meckel's cartilage, basisphenoid bone, orbito-sphenoid, turbinate	OMIM|603931
RG-div2	HN1L	0.532230716	1.47E-12			
RG-div2	PPA1	0.500785511	1.51E-12	Enzyme: Phosphohydrolase	BrainSpLMD|5464;Eurexp|euxassay_004470|bladder, cranium, forelimb, hindlimb, incisor, lung, mandible, maxilla, mesenchyme, metanephros, midgut, nasal septum, olfactory, orbito-sphenoid, palatal shelf, pancreas, respiratory, submandibular gland primordium, tail, turbinate bones, vibrissa	OMIM|179030
RG-div2	TIMELESS	1.234979566	1.62E-12	Transcription regulatory protein	BrainSpLMD|8914	OMIM|603887
RG-div2	SUZ12	0.353312353	1.64E-12	Unclassified	BrainSpLMD|23512;Eurexp|euxassay_011822|Meckel's cartilage, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, orbito-sphenoid, petrous part, scapula, tibia, turbinate	OMIM|606245;COSMIC||endometrial stromal tumour;HPO|23512|Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Accelerated skeletal maturation, Broad foot, Broad forehead, Broad thumb, Camptodactyly of finger, Deep philtrum, Deep-set nails, Feeding difficulties in infancy, Fine hair, Global developmental delay, Hoarse voice, Hypertelorism, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Joint stiffness, Large hands, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Micrognathia, Redundant skin, Retrognathia, Round face, Spasticity, Tall stature, Thin nail
RG-div2	CRYZ	1.299196204	1.68E-12	Enzyme: Oxidoreductase	BrainSpLMD|1429	OMIM|123691
RG-div2	FOSB	0.742455692	1.70E-12	Transcription factor	BrainSpLMD|2354	OMIM|164772
RG-div2	SALL2	1.075019856	1.76E-12	Transcription factor	BrainSpLMD|6297;BrainSpMouseDev|30014	OMIM|602219;HPO|6297|Autosomal recessive inheritance, Coloboma, Reduced visual acuity, Visual impairment
RG-div2	SLC16A1	0.663364258	1.78E-12	Membrane transport protein	BrainSpLMD|6566;Eurexp|euxassay_003351|Meckel's cartilage, axial muscle, capsule, clavicle, epidermis, foregut-midgut junction, glomeruli, hindgut, incisor, left lung, lobe, loop, marginal layer, meninges, midgut, molar, nasal septum, olfactory, pancreas, rectum, right lung, submandibular gland primordium, testis, thymus primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|600682;HPO|6566|Autosomal dominant inheritance, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise-induced muscle cramps, Exercise-induced muscle fatigue, Exercise-induced muscle stiffness, Feeding difficulties, Global developmental delay, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability, Ketoacidosis, Ketotic hypoglycemia, Pancreatic islet-cell hyperplasia
RG-div2	KIF22	0.833273842	1.81E-12	DNA binding protein	BrainSpLMD|3835	OMIM|603213;HPO|3835|Abnormal calcification of the carpal bones, Abnormality of the patella, Abnormality of the sacrum, Anteverted nares, Autosomal dominant inheritance, Broad distal phalanx of finger, Carpal bone hypoplasia, Caudal interpedicular narrowing, Congenital hip dislocation, Delayed patellar ossification, Delayed phalangeal epiphyseal ossification, Depressed nasal bridge, Dislocated radial head, Enlarged thorax, Flared metaphysis, Flat capital femoral epiphysis, Frontal bossing, Generalized hypotonia, Genu valgum, Global developmental delay, Hip dislocation, Hypoplasia of the capital femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Joint laxity, Kyphosis, Large joint dislocations, Laryngeal stenosis, Laryngotracheomalacia, Long distal phalanx of finger, Long proximal phalanx of finger, Macrocephaly, Malar flattening, Metaphyseal irregularity, Micromelia, Midface retrusion, Nail dysplasia, Narrow femoral neck, Osteoarthritis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Short nose, Short stature, Skeletal dysplasia, Slender distal phalanx of finger, Slender metacarpals, Slender proximal phalanx of finger, Small epiphyses, Soft skin, Spinal dysraphism, Spondyloepimetaphyseal dysplasia, Streaky metaphyseal sclerosis, Wide nose
RG-div2	SSB	0.351546041	1.88E-12	RNA binding protein	BrainSpLMD|6741	OMIM|109090
RG-div2	H2AFV	0.41860469	1.90E-12	DNA binding protein	BrainSpLMD|94239;Eurexp|euxassay_010704|metanephros, ventricular layer	
RG-div2	BBS2	0.710002862	1.97E-12	Unclassified	BrainSpLMD|583	OMIM|606151;HPO|583|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, External genital hypoplasia, Glaucoma, Global developmental delay, Hyperinsulinemia, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Keratoconus, Multicystic kidney dysplasia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Pigmentary retinopathy, Postaxial hand polydactyly, Posterior polar cataract, Progressive night blindness, Retinal degeneration, Rod-cone dystrophy, Sensorineural hearing impairment, Short stature, Wide nasal bridge
RG-div2	SH3RF1	0.8675282	1.97E-12	Unclassified	BrainSpLMD|57630;Eurexp|euxassay_016453|mantle layer	
RG-div2	BLM	1.22044642	1.99E-12	DNA binding protein	BrainSpLMD|641	OMIM|604610;COSMIC||leukaemia, lymphoma, skin squamous cell, other tumour types;HPO|641|Abnormality of chromosome stability, Agenesis of maxillary lateral incisor, Autosomal recessive inheritance, Azoospermia, Bronchiectasis, Cafe-au-lait spot, Chromosome breakage, Chronic lung disease, Clinodactyly of the 5th finger, Cryptorchidism, Cutaneous photosensitivity, Decreased fertility in females, Delayed skeletal maturation, Diarrhea, Dolichocephaly, Erythema, Facial telangiectasia in butterfly midface distribution, Hand polydactyly, High pitched voice, Hypertrichosis, Hypoplasia of the zygomatic bone, IgA deficiency, IgG deficiency, IgM deficiency, Intrauterine growth retardation, Leukemia, Lymphoma, Malar flattening, Microcephaly, Narrow face, Postnatal growth retardation, Prominent nose, Protruding ear, Recurrent respiratory infections, Short nose, Short stature, Sinusitis, Specific learning disability, Spotty hyperpigmentation, Spotty hypopigmentation, Squamous cell carcinoma, Syndactyly, Type II diabetes mellitus
RG-div2	H2AFX	1.00548409	2.03E-12	DNA binding protein	BrainSpLMD|3014;Eurexp|euxassay_002718|ventricular layer	OMIM|601772
RG-div2	GSTM2	0.364440368	2.04E-12	Enzyme: Glutathione transferase	BrainSpLMD|2946;Eurexp|euxassay_010417|mantle layer, olfactory, renal/urinary system, testis	OMIM|138380
RG-div2	FOXK1	1.050173945	2.08E-12	Transcription factor	Eurexp|euxassay_010907|floor plate, floorplate, mantle layer;BrainSpMouseDev|17193	OMIM|616302
RG-div2	RBBP7	0.81418749	2.15E-12	Transcription regulatory protein	BrainSpLMD|5931;Eurexp|euxassay_011608|cranium, midgut, pelvis, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|300825
RG-div2	CKAP2L	1.071108472	2.35E-12	Unclassified	BrainSpLMD|150468;Eurexp|euxassay_002011|thymus primordium, ventricular layer	OMIM|616174;HPO|150468|2-4 toe syndactyly, Aphasia, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Broad forehead, Cerebellar atrophy, Clinodactyly of the 5th finger, Cryptorchidism, Decreased body weight, Delayed skeletal maturation, Dysphasia, Dystonia, Echolalia, Finger syndactyly, Frontal bossing, Frontal hirsutism, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Low hanging columella, Microcephaly, Microdontia, Mutism, Optic atrophy, Postnatal growth retardation, Prominent forehead, Prominent nasal bridge, Proptosis, Seizures, Severe short stature, Short philtrum, Single transverse palmar crease, Specific learning disability, Thin vermilion border, Underdeveloped nasal alae, Ventricular septal defect, Visual impairment, Wide nasal bridge, Wide nose
RG-div2	LRRC17	1.454466186	2.41E-12	Unclassified	BrainSpLMD|10234	
RG-div2	ANLN	0.80050538	2.44E-12	Structural protein	BrainSpLMD|54443;Eurexp|euxassay_004352|ventricular layer	OMIM|616027;HPO|54443|Autosomal dominant inheritance, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease
RG-div2	MASTL	1.639517691	2.68E-12	Unclassified	BrainSpLMD|84930;Eurexp|euxassay_000091|liver, otic capsule, thymus primordium, tooth	OMIM|608221;HPO|84930|Autosomal dominant inheritance, Bruising susceptibility, Thrombocytopenia
RG-div2	PARK7	0.302035814	2.71E-12	RNA binding protein	BrainSpLMD|11315	OMIM|602533;HPO|11315|Adult onset, Anxiety, Autosomal recessive inheritance, Blepharospasm, Bradykinesia, Postural tremor, Psychotic episodes, Resting tremor, Rigidity, Slow progression
RG-div2	MYBL2	1.440087761	2.90E-12	Transcription factor	BrainSpLMD|4605;Eurexp|euxassay_002836|incisor, integumental system, lobe, marginal layer, skeleton, thymus primordium, ventricular layer, vibrissa;BrainSpMouseDev|17632	OMIM|601415
RG-div2	RFXANK	1.241998625	2.91E-12	Transcription factor	BrainSpLMD|8625	OMIM|603200;HPO|8625|Agammaglobulinemia, Autosomal dominant inheritance, Autosomal recessive inheritance, Biliary tract abnormality, Chronic lymphocytic meningitis, Chronic mucocutaneous candidiasis, Colitis, Cutaneous anergy, Encephalitis, Failure to thrive, Malabsorption, Neutropenia, Panhypogammaglobulinemia, Protracted diarrhea, Recurrent bacterial infections, Recurrent fungal infections, Recurrent lower respiratory tract infections, Recurrent protozoan infections, Recurrent upper respiratory tract infections, Recurrent urinary tract infections, Recurrent viral infections, Villous atrophy, Viral hepatitis
RG-div2	SPICE1	0.591472446	3.13E-12	Unclassified	BrainSpLMD|152185;Eurexp|euxassay_006294|adenohypophysis, neurohypophysis, olfactory, respiratory, testis, thymus primordium, ventricular layer	OMIM|613447
RG-div2	WBP4	0.530408888	3.21E-12	RNA binding protein	BrainSpLMD|11193	OMIM|604981
RG-div2	ZDHHC13	0.799118277	3.40E-12	Unclassified	BrainSpLMD|54503;Eurexp|euxassay_013713|cortex, epithelium, molar, olfactory, vibrissa, vomeronasal organ	OMIM|612815
RG-div2	YEATS4	1.121749558	3.50E-12	Transcription factor	BrainSpLMD|8089	OMIM|602116
RG-div2	TMEM67	0.284043248	3.51E-12	Unclassified	BrainSpLMD|91147	OMIM|609884;HPO|91147|Anemia, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Blindness, Breathing dysregulation, Cataract, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cirrhosis, Cleft palate, Coloboma, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Elevated hepatic transaminases, Elongated superior cerebellar peduncle, Encephalocele, Enlarged fossa interpeduncularis, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Heterogeneous, Hyperreflexia, Hypertelorism, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intrahepatic biliary atresia, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Multiple small medullary renal cysts, Muscular hypotonia, Nephronophthisis, Nephropathy, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic nerve coloboma, Polydactyly, Polydipsia, Polyuria, Portal hypertension, Postaxial foot polydactyly, Postaxial hand polydactyly, Ptosis, Renal corticomedullary cysts, Renal insufficiency, Retinal degeneration, Round face, Sclerocornea, Sloping forehead, Spasticity, Splenomegaly, Stage 5 chronic kidney disease, Talipes, Thickened superior cerebellar peduncle, Tubular atrophy, Tubular basement membrane disintegration, Visual impairment, Wide mouth
RG-div2	IRF2BP2	0.311672266	3.54E-12	Transcription regulatory protein	BrainSpLMD|359948	OMIM|615332
RG-div2	COMMD4	1.056866115	3.65E-12	Unclassified	BrainSpLMD|54939	OMIM|616701
RG-div2	UCP2	1.11067511	4.00E-12	Transport/cargo protein	BrainSpLMD|7351;Eurexp|euxassay_010584|liver, olfactory, vibrissa, vomeronasal organ	OMIM|601693;HPO|7351|Abnormality of fatty-acid metabolism, Coma, Diarrhea, Hepatomegaly, Hyperhidrosis, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Neonatal hypoglycemia, Pallor, Pancreatic islet-cell hyperplasia, Progressive neurologic deterioration, Tachycardia, Vomiting
RG-div2	ZNF90	1.321607875	4.13E-12	Transcription regulatory protein		OMIM|603973
RG-div2	APOL2	1.181203859	4.14E-12	Integral membrane protein;Transport/cargo protein	BrainSpLMD|23780;Eurexp|euxassay_010310|liver	OMIM|607252
RG-div2	SRSF2	0.324328272	4.19E-12	Ribonucleoprotein	BrainSpLMD|6427	OMIM|600813;COSMIC||MDS, CLL
RG-div2	PMF1	0.294370814	4.30E-12	Transcription regulatory protein	BrainSpLMD|11243	OMIM|609176
RG-div2	RP11.138A9.2	0.630524809	4.37E-12			
RG-div2	LRP6	0.539490662	4.58E-12	Structural protein	BrainSpLMD|4040;Eurexp|euxassay_018221|lung, nasal septum, otic capsule, submandibular gland primordium, trachea, vibrissa;BrainSpMouseDev|16744	OMIM|603507;HPO|4040|Agenesis of permanent teeth, Autosomal dominant inheritance, Hypoplasia of the maxilla, Microdontia, Micrognathia, Oligodontia
RG-div2	DNMBP	1.705531786	4.62E-12	Guanine nucleotide exchange factor	BrainSpLMD|23268;Eurexp|euxassay_016234|lens	OMIM|611282
RG-div2	PHF19	1.705194556	4.85E-12	Transcription regulatory protein	BrainSpLMD|26147;Eurexp|euxassay_004365|cortex, ventricular layer;BrainSpMouseDev|49857	OMIM|609740
RG-div2	SNX3	0.605393133	4.86E-12	Transport/cargo protein	BrainSpLMD|8724;Eurexp|euxassay_015289|nucleus pulposus, thymus primordium, ventricular layer	OMIM|605930
RG-div2	TBL1X	0.895217808	5.13E-12	Cell cycle control protein	BrainSpLMD|6907	SFARI||Autism, 4 - Minimal evidence;OMIM|300196
RG-div2	NUP155	0.660144004	5.27E-12	Transport/cargo protein	BrainSpLMD|9631	OMIM|606694;HPO|9631|Atrial fibrillation, Atrial flutter, Autosomal recessive inheritance
RG-div2	NDUFA11	0.430167282	5.30E-12	Enzyme: Oxidoreductase	BrainSpLMD|126328	OMIM|612638;HPO|126328|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
RG-div2	ANKRD40	0.41258557	5.61E-12	Unclassified	BrainSpLMD|91369	
RG-div2	SNX5	0.630734598	5.71E-12	Transport/cargo protein	BrainSpLMD|27131;Eurexp|euxassay_011463|clavicle, cortex, epithelium, exoccipital bone, floor plate, fundus region, hindgut, incisor, lobe, lung, mandible, marginal layer, maxilla, midgut, molar, naris, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, roof, stomach, submandibular gland primordium, temporal bone, thymus primordium, thyroid, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|605937
RG-div2	VCAM1	0.99871811	6.12E-12	Adhesion molecule	BrainSpLMD|7412	OMIM|192225
RG-div2	PUF60	0.833059813	6.56E-12	RNA binding protein	BrainSpLMD|22827	OMIM|604819;HPO|22827|Abnormality of the cardiac septa, Autosomal dominant inheritance, Cerebral atrophy, Clinodactyly, Coloboma, Congenital onset, Feeding difficulties, Global developmental delay, Hemivertebrae, Hip dislocation, Long philtrum, Microcephaly, Narrow forehead, Phenotypic variability, Renal agenesis, Renal cyst, Renal hypoplasia, Scoliosis, Short 5th finger, Short neck, Short nose, Short stature, Thin upper lip vermilion, Vertebral fusion, Wide nasal bridge
RG-div2	SKA3	1.520011163	6.60E-12	Unclassified	BrainSpLMD|221150;Eurexp|euxassay_011780|brain, choroid invagination, left lung, mantle layer, right lung, ventricle, vertebral axis muscle system	
RG-div2	WASF2	0.44117884	6.77E-12	Cytoskeletal associated protein	BrainSpLMD|10163	OMIM|605875
RG-div2	LAMB2	1.392803748	7.12E-12	Extracellular matrix protein	BrainSpLMD|3913	OMIM|150325;HPO|3913|Areflexia, Autosomal recessive inheritance, Blindness, Diffuse mesangial sclerosis, Edema, Generalized hypotonia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Hypoproteinemia, Myopia, Neonatal onset, Nephrotic syndrome, Nystagmus, Posterior lenticonus, Proteinuria, Stage 5 chronic kidney disease, Strabismus
RG-div2	TMA16	0.491280141	7.44E-12	Unclassified	BrainSpLMD|55319;Eurexp|euxassay_001460|lobe, urethra	
RG-div2	HTRA1	0.62246643	8.03E-12	Serine protease	BrainSpLMD|5654;Eurexp|euxassay_005061|anterior abdominal wall, aorta, axial muscle, axial skeleton, choroid plexus, diaphragm, humerus, incisor, lung, mesenchyme, metatarsus, molar, nucleus pulposus, pancreas, pelvic girdle, pharyngo-tympanic tube, rest of mesenchyme, rest of mesencyme, roof plate, scapula, skeletal muscle, sternum, tongue, trachea, ventricular layer, vibrissa	OMIM|602194;HPO|5654|Abnormality of extrapyramidal motor function, Alopecia, Arteriosclerosis of small cerebral arteries, Ataxia, Autosomal recessive inheritance, Babinski sign, Dementia, Diffuse demyelination of the cerebral white matter, Diffuse white matter abnormalities, Dysarthria, Gait disturbance, Hyperreflexia, Leukoencephalopathy, Low back pain, Progressive encephalopathy, Pseudobulbar signs, Rigidity, Spasticity, Urinary incontinence
RG-div2	SCUBE1	1.345573944	8.19E-12	Secreted polypeptide	BrainSpLMD|80274;BrainSpMouseDev|41281	OMIM|611746
RG-div2	RPN2	0.694701759	8.62E-12	Enzyme: Glycosyltransferase	BrainSpLMD|6185;Eurexp|euxassay_018263|embryo	OMIM|180490
RG-div2	LINC00263	0.757690671	8.90E-12			
RG-div2	KIF18A	0.985805109	9.04E-12	Motor protein	BrainSpLMD|81930	OMIM|611271
RG-div2	DAG1	0.618203763	9.65E-12	Adhesion molecule	BrainSpLMD|1605	OMIM|128239;HPO|1605|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Absent septum pellucidum, Absent speech, Agenesis of corpus callosum, Ankle contracture, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Autosomal recessive inheritance, Buphthalmos, Cataract, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebral calcification, Chorioretinal dysplasia, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Delayed speech and language development, Elevated serum creatine phosphokinase, Generalized hypotonia, Glaucoma, Global developmental delay, Gowers sign, Hydrocephalus, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hyporeflexia, Infantile onset, Intellectual disability, Leukodystrophy, Limb-girdle muscle weakness, Lissencephaly, Lumbar hyperlordosis, Macrocephaly, Macrogyria, Metatarsus valgus, Microphthalmia, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Myopia, Optic atrophy, Pachygyria, Polymicrogyria, Poor head control, Respiratory failure, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Skeletal muscle atrophy, Specific learning disability, Variable expressivity, Ventriculomegaly
RG-div2	GAPDHP1	0.640402807	9.92E-12			
RG-div2	HNMT	1.540981466	1.10E-11	Enzyme: Methyltransferase	BrainSpLMD|3176	OMIM|605238;HPO|3176|Autosomal recessive inheritance, Delayed speech and language development, Global developmental delay, Infantile onset, Intellectual disability, Intellectual disability, severe, Microcephaly
RG-div2	HNRNPUL1	0.472209894	1.12E-11	RNA binding protein	BrainSpLMD|11100	OMIM|605800
RG-div2	TNFRSF19	0.690331278	1.13E-11	Cell surface receptor	BrainSpLMD|55504;Eurexp|euxassay_000124|associated mesenchyme, cartilage condensation, cerebral cortex, epithelium, facial bones primordia, frontal bone primordium, heart, incisor, lung, main bronchus, mandible, maxilla, mesenchyme, optic foramen, palatal shelf, perioptic mesenchyme, premaxilla, primary palate, skeletal muscle, skeleton, spleen primordium, submandibular gland primordium, vibrissa	OMIM|606122
RG-div2	SFT2D2	0.877111615	1.18E-11	Unclassified	BrainSpLMD|375035	
RG-div2	OIP5	0.939551232	1.19E-11	Unclassified	BrainSpLMD|11339	OMIM|606020
RG-div2	SAMD4A	0.923315313	1.20E-11	Unclassified	BrainSpLMD|23034	OMIM|610747
RG-div2	FOXRED2	0.671803095	1.23E-11	Enzyme: Oxidoreductase	BrainSpLMD|80020	OMIM|613777
RG-div2	NCAPG2	0.863154108	1.26E-11	Unclassified	BrainSpLMD|54892;Eurexp|euxassay_002384|axial muscle, epithelium, lobe, olfactory, ventricular layer	OMIM|608532
RG-div2	UTRN	0.746454943	1.30E-11	Anchor protein	BrainSpLMD|7402;Eurexp|euxassay_013991|bladder, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, primitive seminiferous tubules, rectum, stomach, trigeminal V, urethra	SFARI||Autism, No category;OMIM|128240
RG-div2	PPT1	0.663683071	1.36E-11	Enzyme: Hydrolase	BrainSpLMD|5538;Eurexp|euxassay_018600|primitive seminiferous tubules, thymus primordium, ventricular layer	OMIM|600722;HPO|5538|Abnormality of metabolism/homeostasis, Ataxia, Autosomal recessive inheritance, Blindness, Cerebral atrophy, Decreased light- and dark-adapted electroretinogram amplitude, Depressivity, EEG abnormality, Flexion contracture, Generalized hypotonia, Global developmental delay, Hallucinations, Increased neuronal autofluorescent lipopigment, Intellectual disability, Irritability, Loss of speech, Macular degeneration, Myoclonus, Onset, Optic atrophy, Postnatal microcephaly, Progressive microcephaly, Progressive visual loss, Psychomotor deterioration, Retinal degeneration, Seizures, Sleep disturbance, Spasticity, Undetectable electroretinogram
RG-div2	POLR2L	0.890503479	1.39E-11	RNA polymerase	BrainSpLMD|5441;Eurexp|euxassay_019574|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, liver, lung, midgut, nucleus pulposus, oesophagus, pancreas, stomach, submandibular gland primordium, testis, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|601189
RG-div2	TROVE2	0.258154857	1.40E-11	RNA binding protein	BrainSpLMD|6738	OMIM|600063
RG-div2	SYT11	0.470165494	1.49E-11	Calcium binding protein	BrainSpLMD|23208	OMIM|608741
RG-div2	NUP43	0.756462915	1.57E-11	Transport/cargo protein	BrainSpLMD|348995;Eurexp|euxassay_007275|bladder, cortex, incisor, left lung, liver, mesenchyme, midgut, molar, olfactory, pectoral girdle and thoracic body wall, right lung, thymus primordium	OMIM|608141
RG-div2	JUND	0.53045539	1.64E-11	Transcription factor	BrainSpLMD|3727;BrainSpMouseDev|16251	OMIM|165162
RG-div2	SRSF10	0.268416027	1.67E-11	RNA binding protein	Eurexp|euxassay_000064|adenohypophysis, cardiac muscle, endocardial lining, limb, vertebral axis muscle system	OMIM|605221
RG-div2	LARP7	0.279247086	1.72E-11	Unclassified	BrainSpLMD|51574;Eurexp|euxassay_006535|embryo	OMIM|612026;HPO|51574|Autosomal recessive inheritance, Decreased body weight, Deeply set eye, Depressed nasal bridge, Global developmental delay, Intellectual disability, severe, Low-set ears, Malar flattening, Microcephaly, Scoliosis, Severe short stature, Short philtrum, Thick vermilion border, Wide mouth, Wide nasal bridge, Wide nose
RG-div2	NUDT1	1.269010134	1.77E-11	Enzyme: Hydrolase	BrainSpLMD|4521	OMIM|600312
RG-div2	ATAD5	0.540469234	1.93E-11	DNA repair protein	BrainSpLMD|79915;Eurexp|euxassay_013782|cortex, liver, metanephros, ventricular layer	OMIM|609534
RG-div2	NUP107	0.662681828	1.94E-11	Transport/cargo protein	BrainSpLMD|57122	OMIM|607617;HPO|57122|Aplasia/Hypoplasia of the breasts, Aplasia/hypoplasia of the uterus, Autosomal recessive inheritance, Decreased fertility, Decreased serum estradiol, Delayed puberty, Delayed skeletal maturation, Gonadal dysgenesis, Hypoalbuminemia, Increased circulating gonadotropin level, Minimal change glomerulonephritis, Nephrotic syndrome, Osteopenia, Osteoporosis of vertebrae, Premature ovarian insufficiency, Primary amenorrhea, Progressive, Proteinuria, Sparse pubic hair, Stage 5 chronic kidney disease, Streak ovary, Variable expressivity
RG-div2	SLC1A2	0.826822991	1.98E-11	Membrane transport protein	BrainSpLMD|6506;Eurexp|euxassay_009471|brain, spinal cord;BrainSpMouseDev|20273	SFARI||Autism, No category;OMIM|600300;HPO|6506|Autosomal dominant inheritance, Cerebral atrophy, Epileptic encephalopathy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Intellectual disability, profound, Kyphoscoliosis, Neonatal onset, Seizures
RG-div2	KIAA1161	0.585936664	2.06E-11			
RG-div2	PLCH1	1.320410996	2.17E-11	Unclassified	BrainSpMouseDev|92752	OMIM|612835
RG-div2	PIK3C2A	0.627975173	2.47E-11	Lipid Kinase	BrainSpLMD|5286	OMIM|603601
RG-div2	ITGB1BP1	0.757047321	2.51E-11	Adapter molecule	BrainSpLMD|9270;Eurexp|euxassay_006800|left lung, right lung	OMIM|607153
RG-div2	SSRP1	0.389941454	2.56E-11	Transcription factor	BrainSpLMD|6749;BrainSpMouseDev|20595	OMIM|604328
RG-div2	CSTB	0.461463045	2.81E-11	Protease inhibitor	BrainSpLMD|1476;Eurexp|euxassay_009738|bladder, mandible, maxilla, stomach, thymus primordium	OMIM|601145;HPO|1476|Absence seizures, Ataxia, Autosomal recessive inheritance, Dysarthria, EEG with polyspike wave complexes, Generalized tonic-clonic seizures, Intention tremor, Limb ataxia, Mental deterioration, Morning myoclonic jerks, Myoclonus
RG-div2	PPIA	0.332951339	2.88E-11	Enzyme: Isomerase	BrainSpLMD|5478	OMIM|123840
RG-div2	RGL1	0.505606679	2.94E-11	Guanine nucleotide exchange factor	BrainSpLMD|23179	OMIM|605667
RG-div2	GPX4	0.506521172	3.16E-11	Enzyme: Peroxidase	BrainSpLMD|2879	OMIM|138322;HPO|2879|11 pairs of ribs, Abnormality of the ribs, Abnormality of the scapula, Arrhythmia, Atrial septal defect, Atrioventricular block, Autosomal recessive inheritance, Brachydactyly, Cardiorespiratory arrest, Cerebellar hypoplasia, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped metacarpal epiphyses, Cupped ribs, Delayed epiphyseal ossification, Delayed skeletal maturation, Depressed nasal bridge, Flared iliac wings, Flat acetabular roof, Focal lissencephaly, Generalized hypotonia, Iliac crest serration, Irregular tarsal bones, Large posterior fontanelle, Long fibula, Metaphyseal chondrodysplasia, Metaphyseal cupping, Metaphyseal irregularity, Muscular hypotonia, Narrow chest, Narrow greater sacrosciatic notches, Platyspondyly, Porencephalic cyst, Posteriorly rotated ears, Redundant skin, Rhizomelia, Rhizomelic arm shortening, Short finger, Short long bone, Short metacarpal, Short neck, Short palm, Short phalanx of finger, Short ribs, Short toe, Spondylometaphyseal dysplasia, Talipes equinovarus, Turricephaly, Widened sacrosciatic notch
RG-div2	FBXO5	0.93363155	3.19E-11	Cell cycle control protein	BrainSpLMD|26271;Eurexp|euxassay_012335|marginal layer, ventricular layer	OMIM|606013
RG-div2	TSPAN3	0.452308975	3.34E-11	Integral membrane protein	BrainSpLMD|10099;Eurexp|euxassay_011791|axial skeleton, basioccipital bone, basisphenoid bone, naris, nasal septum, orbito-sphenoid, otic capsule, petrous part, rib, turbinate bones	OMIM|613134
RG-div2	SEZ6L	0.704872019	3.35E-11	Integral membrane protein	BrainSpLMD|23544;Eurexp|euxassay_009459|brain, neural retina, spinal cord	OMIM|607021
RG-div2	LRRC1	0.548852758	3.44E-11	Unclassified	BrainSpLMD|55227	SFARI||Autism, 4 - Minimal evidence;OMIM|608195
RG-div2	ECI2	0.78617103	3.50E-11	Enzyme: Isomerase;Unclassified	BrainSpLMD|10455	OMIM|608024
RG-div2	HMGCR	0.464389569	3.52E-11	Enzyme: Reductase	BrainSpLMD|3156;Eurexp|euxassay_004330|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nucleus pulposus, spinal cord, thoracic, trigeminal V, vagus X	OMIM|142910
RG-div2	SPC24	1.043584397	3.55E-11	Cell cycle control protein	BrainSpLMD|147841;Eurexp|euxassay_006353|ventricular layer	OMIM|609394
RG-div2	APOOL	0.520162595	3.83E-11	Unclassified	BrainSpLMD|139322	OMIM|300955
RG-div2	CELSR1	1.110745343	4.07E-11	G protein coupled receptor	BrainSpLMD|9620;BrainSpMouseDev|12399	OMIM|604523
RG-div2	ENHO	0.876939711	4.42E-11	Unclassified	BrainSpLMD|375704	
RG-div2	PMP22	1.352105735	4.90E-11	Integral membrane protein	BrainSpLMD|5376	OMIM|601097;HPO|5376|Abnormality of the immune system, Acute demyelinating polyneuropathy, Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Childhood onset, Cold-induced muscle cramps, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Gait ataxia, Gait disturbance, Generalized hypotonia, Hammertoe, Hearing impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Increased CSF protein, Infantile onset, Insidious onset, Juvenile onset, Kyphoscoliosis, Motor delay, Muscle weakness, Myelin outfoldings, Onion bulb formation, Paresthesia, Pes cavus, Scoliosis, Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Sensory ataxia, Slow progression, Split hand, Steppage gait, Talipes calcaneovalgus, Ulnar claw, Upper limb postural tremor, Variable expressivity, Vocal cord paralysis
RG-div2	P4HA1	0.690843317	4.90E-11	Enzyme: Hydroxylase	BrainSpLMD|5033;Eurexp|euxassay_000584|Meckel's cartilage, axial skeleton, chondrocranium, incisor, limb, molar, nasal capsule, pectoral girdle and thoracic body wall	OMIM|176710
RG-div2	FBXO32	1.098468218	4.94E-11	Ubiquitin proteasome system protein	BrainSpLMD|114907;Eurexp|euxassay_009279|atrium, cochlea, cochlear duct, intermediate grey horn, lip, mesenchyme, oesophagus, olfactory, sublingual gland primordium, ventricular layer, vomeronasal organ	OMIM|606604
RG-div2	RAD54B	0.47822529	4.97E-11	ATPase	BrainSpLMD|25788	OMIM|604289;HPO|25788|Lymphoma
RG-div2	EFTUD1	1.165622289	5.28E-11			
RG-div2	NES	0.995348313	5.34E-11	Cytoskeletal protein	BrainSpLMD|10763;Eurexp|euxassay_017860|calyces, diaphragm, head mesenchyme, meninges, mesenchyme, skeletal muscle, tongue, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|17775	OMIM|600915
RG-div2	C3orf58	0.735102612	5.35E-11	Unclassified	BrainSpLMD|205428	SFARI||Autism, 4 - Minimal evidence;OMIM|612200
RG-div2	HSDL2	1.171559762	5.40E-11	Unclassified	BrainSpLMD|84263	
RG-div2	SCP2	0.538584984	5.42E-11	Membrane transport protein	BrainSpLMD|6342	SFARI||Autism, 4 - Minimal evidence;OMIM|184755;HPO|6342|Abnormal motor neuron morphology, Abnormality of saccadic eye movements, Abnormality of thalamus morphology, Autosomal recessive inheritance, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Hyposmia, Intention tremor, Leukoencephalopathy, Peripheral neuropathy, Torticollis
RG-div2	SMAD5	0.439051612	5.50E-11	Transcription regulatory protein	BrainSpLMD|4090;Eurexp|euxassay_019553|incisor, lung, mantle layer, metanephros, molar, saccule, spleen primordium, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|16899	OMIM|603110
RG-div2	MKKS	0.557812247	5.61E-11	Chaperone	BrainSpLMD|8195	OMIM|604896;HPO|8195|Abnormal electroretinogram, Abnormality of cardiovascular system morphology, Aganglionic megacolon, Anal atresia, Asthma, Ataxia, Autosomal recessive inheritance, Biliary tract abnormality, Brachydactyly, Broad foot, Congenital hip dislocation, Congenital primary aphakia, Cryptorchidism, Decreased testicular size, Delayed speech and language development, Dental crowding, Diabetes mellitus, Edema, Edema of the lower limbs, External genital hypoplasia, Foot polydactyly, Gait imbalance, Glandular hypospadias, Global developmental delay, Hepatic fibrosis, High, narrow palate, Hirsutism, Hydrometrocolpos, Hydronephrosis, Hydroureter, Hypertension, Hypodontia, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypospadias, Intellectual disability, Left ventricular hypertrophy, Mesoaxial hand polydactyly, Multicystic kidney dysplasia, Nephrogenic diabetes insipidus, Neurological speech impairment, Nystagmus, Obesity, Pigmentary retinopathy, Polycystic kidney dysplasia, Polydactyly, Poor coordination, Postaxial hand polydactyly, Pulmonary hypoplasia, Radial deviation of finger, Rectovaginal fistula, Renal cyst, Retinal degeneration, Rod-cone dystrophy, Short foot, Short stature, Specific learning disability, Strabismus, Syndactyly, Transverse vaginal septum, Urogenital sinus anomaly, Vaginal atresia, Vesicovaginal fistula
RG-div2	RNF168	0.666435041	5.61E-11	Transcription regulatory protein	BrainSpLMD|165918	OMIM|612688;HPO|165918|Abnormal facial shape, Ataxia, Autosomal recessive inheritance, Dry skin, IgG deficiency, Immunodeficiency, Increased sensitivity to ionizing radiation, Mild global developmental delay, Short stature
RG-div2	MTRNR2L12	0.762674025	5.80E-11			
RG-div2	TOPBP1	0.414429179	5.92E-11	Cell cycle control protein;Transcription regulatory protein	BrainSpLMD|11073	OMIM|607760
RG-div2	PHF10	0.286839903	6.13E-11	Transcription regulatory protein	BrainSpLMD|55274	OMIM|613069
RG-div2	PLK4	0.829200117	6.21E-11	Serine/threonine kinase	BrainSpLMD|10733;Eurexp|euxassay_003979|Meckel's cartilage, clavicle, cranium, rib, turbinate	OMIM|605031;HPO|10733|Abnormality of dental enamel, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the eyelashes, Absent earlobe, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Autosomal recessive inheritance, Biparietal narrowing, Cachexia, Cataract, Cerebellar atrophy, Cerebral atrophy, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital onset, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Hip dysplasia, Hypertonia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Mild global developmental delay, Narrow face, Nystagmus, Optic atrophy, Pointed chin, Prematurely aged appearance, Protruding ear, Reduced number of teeth, Sandal gap, Scoliosis, Seizures, Short stature, Sloping forehead, Sparse scalp hair, Strabismus, Visual impairment, Wide nasal bridge
RG-div2	FAM96A	0.322921868	6.34E-11	Unclassified	BrainSpLMD|84191;Eurexp|euxassay_006563|liver	
RG-div2	HSPD1P1	0.604661908	6.77E-11			
RG-div2	FAM120A	1.028207088	6.84E-11	Unclassified	BrainSpLMD|23196	OMIM|612265
RG-div2	E2F7	1.057320462	7.08E-11	Transcription factor	BrainSpLMD|144455;Eurexp|euxassay_011832|cortex, ventricular layer;BrainSpMouseDev|32159	OMIM|612046
RG-div2	NT5DC2	0.592398484	7.14E-11	Unclassified	BrainSpLMD|64943;Eurexp|euxassay_009884|axial muscle, bladder, choroid plexus, cortex, lung, mandible, mantle layer, maxilla, neural retina, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, thyroid, turbinate bones, vault of skull, ventricular layer	
RG-div2	MPDZ	0.3348552	7.19E-11	Cell junction protein	BrainSpLMD|8777;Eurexp|euxassay_012184|marginal layer, neural retina, olfactory, ventricular layer	OMIM|603785;HPO|8777|Autosomal recessive inheritance, Communicating hydrocephalus, Congenital onset, Cortical gyral simplification, Intellectual disability, Macrocephaly, Seizures
RG-div2	10-Sep	0.955521855	7.34E-11			
RG-div2	CAPG	0.930414874	7.50E-11	Cytoskeletal associated protein	BrainSpLMD|822;Eurexp|euxassay_014310|epithelium, incisor, mandible, maxilla, molar, oral epithelium, pharyngo-tympanic tube	OMIM|153615
RG-div2	DAXX	0.522495501	7.85E-11	Adapter molecule	BrainSpLMD|1616	OMIM|603186;COSMIC||pancreatic neuroendocrine tumour, paediatric glioblastoma
RG-div2	CENPW	0.478639706	7.90E-11	Unclassified	Eurexp|euxassay_006383|roof plate, telencephalic part of interventricular foramen, thalamus	OMIM|611264
RG-div2	RP11.366L20.2	1.11430322	8.11E-11			
RG-div2	UBE2T	0.834323709	8.16E-11	Ubiquitin proteasome system protein	BrainSpLMD|29089;Eurexp|euxassay_004872|olfactory, respiratory, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|610538;HPO|29089|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bone marrow hypocellularity, Duplication of thumb phalanx, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pancytopenia, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Thrombocytopenia
RG-div2	MIR29B1	0.828994063	8.32E-11			OMIM|610783
RG-div2	SPIDR	0.706769662	8.37E-11	Unclassified		OMIM|615384;HPO|23514|Aplasia/Hypoplasia of the breasts, Aplasia/hypoplasia of the uterus, Decreased fertility, Decreased serum estradiol, Delayed puberty, Delayed skeletal maturation, Gonadal dysgenesis, Increased circulating gonadotropin level, Osteopenia, Osteoporosis of vertebrae, Premature ovarian insufficiency, Primary amenorrhea, Sparse pubic hair, Streak ovary
RG-div2	PLEKHG1	0.95354344	8.38E-11	Unclassified	BrainSpMouseDev|84601	
RG-div2	AEBP2	0.464856707	8.88E-11	DNA binding protein	BrainSpLMD|121536;Eurexp|euxassay_014332|footplate, handplate, thymus primordium, ventricular layer;BrainSpMouseDev|11356	
RG-div2	STOX2	0.508432745	9.05E-11	Unclassified	Eurexp|euxassay_008526|ventricular layer	OMIM|617359
RG-div2	STK3	0.940818087	9.06E-11	Serine/threonine kinase	BrainSpLMD|6788	OMIM|605030
RG-div2	RAB11FIP2	0.559159308	9.07E-11	Adapter molecule	BrainSpLMD|22841;Eurexp|euxassay_014448|ductus deferens, ventricular layer	OMIM|608599
RG-div2	TAF13	0.670301976	9.83E-11	Transcription factor	BrainSpLMD|6884;Eurexp|euxassay_001598|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, submandibular gland primordium, trigeminal V, vagus X;BrainSpMouseDev|63900	OMIM|600774;HPO|6884|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Delayed puberty, Delayed skeletal maturation, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Small for gestational age, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vesicoureteral reflux
RG-div2	ARHGAP21	0.262261771	1.05E-10	GTPase activating protein	BrainSpLMD|57584;Eurexp|euxassay_007662|dorsal root ganglion, glossopharyngeal IX, mantle layer, neural retina, trigeminal V, ventral grey horn	OMIM|609870
RG-div2	ANKRD20A3	0.620888029	1.06E-10	Unclassified		
RG-div2	RP11.153M3.1	1.330696804	1.13E-10			
RG-div2	PSAP	0.909463568	1.18E-10	Integral membrane protein	BrainSpLMD|5660	OMIM|176801;HPO|5660|Abnormality of eye movement, Abnormality of glycosphingolipid metabolism, Abnormality of the periventricular white matter, Anemia, Autosomal recessive inheritance, Babinski sign, CNS demyelination, Central apnea, Cerebral dysmyelination, Congenital onset, Death in childhood, Death in infancy, Decreased nerve conduction velocity, Developmental regression, Dysarthria, Dysphagia, Dystonia, Erlenmeyer flask deformity of the femurs, Fasciculations, Feeding difficulties, Gait ataxia, Generalized clonic seizures, Generalized hypotonia, Generalized tonic-clonic seizures, Global brain atrophy, Global developmental delay, Hepatomegaly, Hepatosplenomegaly, Hyperkinesis, Hyperreflexia, Hypertonia, Hypoplasia of the corpus callosum, Hyporeflexia, Increased CSF protein, Increased cerebral lipofuscin, Infantile onset, Loss of speech, Mental deterioration, Muscle weakness, Muscular hypotonia, Myoclonus, Neuronal loss in central nervous system, Osteopenia, Peripheral demyelination, Polyneuropathy, Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Seizures, Spastic tetraparesis, Splenomegaly, Thrombocytopenia, Urinary incontinence, Variable expressivity
RG-div2	KTN1	0.317545722	1.19E-10	Anchor protein	BrainSpLMD|3895	OMIM|600381;COSMIC||papillary thyroid
RG-div2	CCDC14	0.464732468	1.19E-10	Transport/cargo protein	BrainSpLMD|64770	OMIM|617147
RG-div2	TMEM14C	0.655571768	1.31E-10	Integral membrane protein	BrainSpLMD|51522;Eurexp|euxassay_000161|basal plate, biceps, brachialis, cerebral cortex, deltoid, dorsal root ganglion, erector spinae, external oblique, facial VII, floorplate, genioglossus, glossopharyngeal IX, gluteus maximus, hamstring, hyoglossus, ilio-psoas, infraspinatus, inner ear, intrinsic, labyrinth, lateral wall, latissimus dorsi, mantle layer, marginal layer, masseter, midbrain, middle ear, myelohyoid, naso-lacrimal duct, neural retina, otic capsule, palatoglossus, pectoralis major, pectoralis minor, quadratus lumborum, quadriceps, rectus abdominis, retina, roof plate, serratus anterior, skeletal muscle, spinal cord, styloglossus, sublingual gland primordium, submandibular gland primordium, subscapularis, supraspinatus, tegmentum, telencephalon, teres major, thymus primordium, transverse component, transversus abdominis, trapezius, triceps, trigeminal V, vagus X, ventricular layer, vertical component, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|615318
RG-div2	HIRIP3	1.163084193	1.40E-10	Unclassified	BrainSpLMD|8479	OMIM|603365
RG-div2	POLR2D	0.48405294	1.46E-10	RNA polymerase	BrainSpLMD|5433	OMIM|606017
RG-div2	LINC00998	0.954379904	1.53E-10			
RG-div2	TWSG1	0.955880675	1.54E-10	Secreted polypeptide	BrainSpLMD|57045	OMIM|605049
RG-div2	ANAPC16	0.69504291	1.54E-10	Unclassified	BrainSpLMD|119504	OMIM|613427
RG-div2	STK17B	1.098110365	1.67E-10	Serine/threonine kinase	BrainSpLMD|9262	OMIM|604727
RG-div2	SMC5	0.264072475	1.68E-10	Unclassified	BrainSpLMD|23137	OMIM|609386
RG-div2	TCTN3	0.78252837	1.71E-10	Integral membrane protein	BrainSpLMD|26123;Eurexp|euxassay_011590|choroid invagination, choroid plexus, olfactory, roof plate	OMIM|613847;HPO|26123|Abnormality of eye movement, Abnormality of oral frenula, Abnormality of the gingiva, Abnormality of the tongue, Absent testis, Accessory oral frenulum, Aplasia/Hypoplasia of the tibia, Autosomal recessive inheritance, Bifid uvula, Brachydactyly, Camptodactyly, Camptodactyly of finger, Cerebral atrophy, Cerebral cortical hemiatrophy, Choanal atresia, Cleft palate, Clinodactyly, Conductive hearing impairment, Decreased testicular size, Depressed nasal ridge, Epicanthus, Failure to thrive, Feeding difficulties, Finger syndactyly, Foot polydactyly, Genu varum, Global developmental delay, Hamartoma, Hamartoma of tongue, Hand polydactyly, High palate, High, narrow palate, Horseshoe kidney, Hypertelorism, Intellectual disability, Intrauterine growth retardation, Joint dislocation, Joint laxity, Kyphoscoliosis, Laryngomalacia, Lobulated tongue, Low-set ears, Median cleft lip, Microcephaly, Micrognathia, Micromelia, Microtia, third degree, Molar tooth sign on MRI, Monorchism, Oligohydramnios, Oral synechia, Pectus excavatum, Phenotypic variability, Polydactyly, Porencephalic cyst, Postaxial hand polydactyly, Posteriorly rotated ears, Preaxial hand polydactyly, Proptosis, Recurrent respiratory infections, Retrognathia, Severe short stature, Short finger, Short nose, Short stature, Short tibia, Specific learning disability, Split hand, Subcortical cerebral atrophy, Submucous cleft hard palate, Toe syndactyly, Tongue nodules, Ventricular septal defect, Wide nose
RG-div2	ADSL	0.720644865	1.72E-10	Enzyme: Lyase	BrainSpLMD|158	SFARI||Autism, No category;OMIM|608222;HPO|158|Abnormal facial shape, Absent speech, Aggressive behavior, Anteverted nares, Autism, Autosomal recessive inheritance, Brachycephaly, Brisk reflexes, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Cerebral hypomyelination, Delayed speech and language development, Flat occiput, Gait ataxia, Generalized hypotonia, Global developmental delay, Growth delay, Hyperactivity, Hypointensity of cerebral white matter on MRI, Inability to walk, Inappropriate laughter, Infantile onset, Intellectual disability, Long philtrum, Low-set ears, Microcephaly, Myoclonus, Nystagmus, Opisthotonus, Poor eye contact, Prominent metopic ridge, Seizures, Self-mutilation, Severe global developmental delay, Short nose, Skeletal muscle atrophy, Smooth philtrum, Strabismus, Thin upper lip vermilion, Wide mouth
RG-div2	PRR11	1.140450151	1.81E-10	Unclassified	BrainSpLMD|55771	OMIM|615920
RG-div2	RP1.104O17.1	0.526990292	1.83E-10			
RG-div2	ATP5G2	0.309876993	1.90E-10			
RG-div2	ANKRD20A4	1.054436353	1.92E-10	Unclassified		
RG-div2	CST3	0.267007679	1.92E-10	Protease inhibitor	BrainSpLMD|1471;Eurexp|euxassay_004853|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|12793	OMIM|604312;HPO|1471|Autosomal dominant inheritance, Cerebral amyloid angiopathy, Cerebral hemorrhage, Dementia, Generalized amyloid deposition, Intracranial hemorrhage, Stroke
RG-div2	GNG11	0.393577952	1.98E-10	G protein	BrainSpLMD|2791	OMIM|604390
RG-div2	FILIP1	1.309730795	1.99E-10	Unclassified	BrainSpLMD|27145;Eurexp|euxassay_011444|adrenal gland, wall	OMIM|607307
RG-div2	BROX	0.361415557	2.06E-10	Unclassified		
RG-div2	PTPN13	1.102690277	2.10E-10	Tyrosine phosphatase	BrainSpLMD|5783	OMIM|600267;COSMIC||lung, NSCLC, gastric, peritoneal carcinomatosis, hepatocellular
RG-div2	RPL22L1	0.754928295	2.22E-10	Unclassified		
RG-div2	ALYREF	0.412818588	2.24E-10	Chaperone	BrainSpLMD|10189	OMIM|604171
RG-div2	NAALADL2	1.477051509	2.52E-10	Unclassified	BrainSpLMD|254827;Eurexp|euxassay_016082|bladder, metanephros, oesophagus, olfactory, pancreas, stomach, urethra, vertebral axis muscle system, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|608806
RG-div2	USP1	0.377350771	2.55E-10	Ubiquitin proteasome system protein	BrainSpLMD|7398	OMIM|603478
RG-div2	ZDHHC2	0.515946793	2.89E-10	Integral membrane protein	BrainSpLMD|51201;Eurexp|euxassay_000126|abducent VI, accessory XI, autonomic, basal plate, cervico-thoracic, corpus striatum, cranial, diencephalon, dorsal root ganglion, facial VII, gland, glossopharyngeal IX, hypoglossal XII, hypothalamus, inferior, lamina terminalis, lateral wall, mandibular division, mantle layer, maxillary division, nerve plexus, oculomotor III, olfactory I, olfactory cortex, olfactory lobe, ophthalmic division, optic II, parasympathetic, spinal cord, sulcus limitans, sympathetic, tegmentum, thalamus, thoracic, trigeminal V, trochlear IV, vagus X, vestibulocochlear VIII;BrainSpMouseDev|46387	
RG-div2	CTNNAL1	1.699803536	2.91E-10	Unclassified	BrainSpLMD|8727	OMIM|604785
RG-div2	CHP1	0.300518061	2.92E-10		BrainSpLMD|11261	OMIM|606988
RG-div2	RAD23A	0.66526833	2.92E-10	DNA repair protein	BrainSpLMD|5886	OMIM|600061
RG-div2	RBBP8	1.519340024	2.98E-10	Transcription regulatory protein	BrainSpLMD|5932	OMIM|604124;HPO|5932|4-5 toe syndactyly, Abnormality of dental enamel, Absent earlobe, Absent fourth finger distal interphalangeal crease, Aggressive behavior, Autosomal recessive inheritance, Cachexia, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital microcephaly, Convex nasal ridge, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Few cafe-au-lait spots, Glaucoma, Growth delay, Hallux valgus, Heart murmur, Hip dysplasia, Hypospadias, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Microdontia, Microglossia, Micrognathia, Microphthalmia, Mild global developmental delay, Narrow face, Narrow forehead, Prematurely aged appearance, Prominent nose, Reduced number of teeth, Retrognathia, Sandal gap, Short middle phalanx of the 5th finger, Short stature, Single interphalangeal crease of fifth finger, Small for gestational age, Sparse scalp hair, Thoracic scoliosis
RG-div2	IGDCC4	0.257933577	3.11E-10	Cell surface receptor	BrainSpLMD|57722;Eurexp|euxassay_007736|diaphragm, footplate, handplate, mantle layer, mesenchyme, oesophagus, rest of mesenchyme, skeletal muscle, tongue, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|616810
RG-div2	LPHN2	0.307854247	3.39E-10			
RG-div2	DENND5A	0.474727586	3.53E-10	Unclassified	BrainSpLMD|23258	OMIM|617278
RG-div2	CCT6A	0.367277014	3.58E-10	Chaperone	BrainSpLMD|908	OMIM|104613
RG-div2	ZNF43	0.471287611	3.63E-10	DNA binding protein	BrainSpLMD|7594	OMIM|603972
RG-div2	TMED10	0.724386343	3.65E-10	Integral membrane protein	BrainSpLMD|10972	OMIM|605406
RG-div2	ESCO2	1.270719532	3.80E-10	Unclassified		OMIM|609353;HPO|157570|Abnormality of cardiovascular system morphology, Abnormality of the metacarpal bones, Absent earlobe, Absent radius, Accessory spleen, Ankle contracture, Aortic valve stenosis, Aplasia of the ulna, Aplasia/Hypoplasia of the thumb, Atrial septal defect, Autosomal recessive inheritance, Bicornuate uterus, Biliary tract abnormality, Blue sclerae, Bowing of the long bones, Brachycephaly, Brachydactyly, Cafe-au-lait spot, Cataract, Cleft eyelid, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Clitoral hypertrophy, Complete duplication of thumb phalanx, Cranial nerve paralysis, Craniosynostosis, Cryptorchidism, Cystic hygroma, Downslanted palpebral fissures, Elbow flexion contracture, Enlarged labia minora, External ear malformation, Fair hair, Frontal encephalocele, Global developmental delay, Hand oligodactyly, High palate, Hip contracture, Horseshoe kidney, Hydrocephalus, Hypertelorism, Hypoplasia of the radius, Hypospadias, Intellectual disability, Intrauterine growth retardation, Knee flexion contracture, Long penis, Low-set ears, Malar flattening, Mesomelic arm shortening, Microcephaly, Micrognathia, Microphthalmia, Midface capillary hemangioma, Narrow naris, Opacification of the corneal stroma, Patent ductus arteriosus, Phocomelia, Polycystic kidney dysplasia, Polyhydramnios, Posteriorly rotated ears, Postnatal growth retardation, Premature birth, Premature separation of centromeric heterochromatin, Proptosis, Proximal placement of thumb, Radial deviation of finger, Radioulnar synostosis, Seizures, Severe intrauterine growth retardation, Shallow orbits, Short neck, Short stature, Short thumb, Sparse hair, Syndactyly, Talipes equinovalgus, Tetraphocomelia, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide nasal bridge, Wormian bones, Wrist flexion contracture
RG-div2	ABHD3	1.397719462	3.90E-10	Unclassified	BrainSpLMD|171586;Eurexp|euxassay_005011|choroid plexus, lateral recess, mantle layer, olfactory, urethra	OMIM|612197
RG-div2	DHX40	0.549573015	4.03E-10	ATPase	BrainSpLMD|79665	OMIM|607570
RG-div2	TAPBP	0.949220901	4.07E-10	Chaperone	BrainSpLMD|6892;Eurexp|euxassay_009813|dorsal root ganglion, facial VII, glossopharyngeal IX, thymus primordium, trigeminal V, ventral grey horn	OMIM|601962;HPO|6892|Autosomal recessive inheritance, Bronchiectasis, Bronchiolitis, Chronic otitis media, Chronic sinusitis, Ectopia lentis, Emphysema, Nasal polyposis, Recurrent bronchitis, Skin ulcer
RG-div2	MSH2	0.477848756	4.08E-10	DNA repair protein	BrainSpLMD|4436;Eurexp|euxassay_001494|dorsal root ganglion	OMIM|609309;COSMIC||colorectal, endometrial, ovarian, colorectal, endometrial, ovarian;HPO|4436|Abdominal pain, Abnormality of abdomen morphology, Adenoma sebaceum, Anxiety, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary freckling, Basal cell carcinoma, Benign gastrointestinal tract tumors, Benign genitourinary tract neoplasm, Breast carcinoma, Cafe-au-lait spot, Colon cancer, Colonic diverticula, Constipation, Death in early adulthood, Death in infancy, Depressivity, Duodenal adenocarcinoma, Ependymoma, Fatigue, Gastrointestinal hemorrhage, Glioblastoma, Hypermelanotic macule, Hypertonia, Increased intracranial pressure, Irritability, Laryngeal carcinoma, Leukemia, Lymphoma, Malabsorption, Malignant genitourinary tract tumor, Medulloblastoma, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Neoplasm of the stomach, Neuroblastoma, Rhabdomyosarcoma, Sebaceous gland carcinoma, Seizures, Weight loss
RG-div2	HSPA5	0.504583579	4.14E-10	Chaperone	BrainSpLMD|3309	OMIM|138120
RG-div2	AURKB	0.824988486	4.20E-10	Serine/threonine kinase	BrainSpLMD|9212	OMIM|604970
RG-div2	SSBP1	0.264256641	4.20E-10	DNA binding protein	BrainSpLMD|6742;Eurexp|euxassay_001696|cortex, oesophagus, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|600439
RG-div2	SOD1	0.393104665	4.32E-10	Enzyme: Superoxide dismutase	BrainSpLMD|6647	SFARI||Autism, No category;OMIM|147450;HPO|6647|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Degeneration of anterior horn cells, Degeneration of the lateral corticospinal tracts, Depressivity, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Heterogeneous, Hyperreflexia, Muscle cramps, Muscle weakness, Neurodegeneration, Pain, Paralysis, Pseudobulbar paralysis, Respiratory failure, Skeletal muscle atrophy, Sleep apnea, Spasticity, Xerostomia
RG-div2	HMGB1P10	0.350397905	4.39E-10			
RG-div2	SPECC1	0.578666901	4.50E-10	Unclassified	BrainSpLMD|92521;Eurexp|euxassay_013924|aorta, liver, molar, ventricular layer	OMIM|608793;COSMIC||JMML
RG-div2	NAPEPLD	0.879399629	4.58E-10	Enzyme: Phospholipase	BrainSpLMD|222236	OMIM|612334
RG-div2	DNAJC24	0.952714124	4.61E-10	Heat shock protein	BrainSpLMD|120526	OMIM|611072
RG-div2	LYRM2	0.730271945	4.66E-10	Enzyme: Oxidoreductase	BrainSpLMD|57226	
RG-div2	MRE11A	0.586794177	4.74E-10			
RG-div2	NCAPG	0.391097547	4.87E-10	DNA binding protein	BrainSpLMD|64151;Eurexp|euxassay_013748|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|606280
RG-div2	HIST1H1C	0.833794845	5.05E-10	DNA binding protein	BrainSpLMD|3006;Eurexp|euxassay_015954|ventricular layer	OMIM|142710
RG-div2	CDK4	0.687341906	5.26E-10	Cell cycle control protein	BrainSpLMD|1019;Eurexp|euxassay_018619|ventricular layer	OMIM|123829;COSMIC||melanoma;HPO|1019|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus, Subcutaneous nodule
RG-div2	LSS	1.375828561	5.40E-10	Enzyme: Mutase	BrainSpLMD|4047;Eurexp|euxassay_017872|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lobe, mandible, mantle layer, molar, neural retina, thoracic, thymus primordium, trigeminal V, ventricular layer, vibrissa	OMIM|600909;HPO|4047|Autosomal recessive inheritance, Congenital cataract, Visual loss
RG-div2	CD59	0.691029204	5.50E-10	Cell surface receptor	BrainSpLMD|966;Eurexp|euxassay_012059|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, brain, dorsal root ganglion, exoccipital bone, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, orbito-sphenoid, pelvic girdle, rib, scapula, spinal cord, temporal bone, tibia, trigeminal V, turbinate, vagus X, vestibulocochlear VIII;BrainSpMouseDev|12294	OMIM|107271;HPO|966|Areflexia, Autosomal recessive inheritance, Generalized hypotonia, Hemolytic anemia, Increased CSF protein, Infantile onset, Limb muscle weakness, Paroxysmal nocturnal hemoglobinuria, Skeletal muscle atrophy
RG-div2	TWF1	0.625090926	5.64E-10	Tyrosine kinase	BrainSpLMD|5756;Eurexp|euxassay_018637|olfactory	OMIM|610932
RG-div2	DIXDC1	0.682530212	5.69E-10	Unclassified	BrainSpLMD|85458	SFARI||Autism, 4 - Minimal evidence;OMIM|610493
RG-div2	VEGFA	0.597360348	5.89E-10	Growth factor	BrainSpLMD|7422;BrainSpMouseDev|22096	OMIM|192240
RG-div2	CTDSPL2	0.557163592	5.98E-10	Unclassified	BrainSpLMD|51496	
RG-div2	NBPF11	0.394676761	6.43E-10	Unclassified	BrainSpLMD|200030	OMIM|614001
RG-div2	DNAJC9	0.882964645	6.94E-10	Chaperone	BrainSpLMD|23234;Eurexp|euxassay_001729|ventricular layer	OMIM|611206
RG-div2	CTDSP2	0.706998538	7.06E-10	Enzyme: Phosphatase	BrainSpLMD|10106;Eurexp|euxassay_004324|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail	OMIM|608711
RG-div2	PCNP	0.4015567	7.56E-10	Ubiquitin proteasome system protein	BrainSpLMD|57092	OMIM|615210
RG-div2	GPR180	1.169185403	7.86E-10	G protein coupled receptor	BrainSpLMD|160897	OMIM|607787
RG-div2	FAM64A	0.90370657	7.96E-10			
RG-div2	PDLIM5	0.654766384	7.96E-10	Adapter molecule	BrainSpLMD|10611;Eurexp|euxassay_011640|alar columns, axial skeleton, bladder, choroid plexus, clavicle, dorsal grey horn, floor plate, floorplate, mesenchyme, metanephros, midgut, oesophagus, stomach, submandibular gland primordium, trachea, urethra, ventral grey horn, ventricular layer	OMIM|605904
RG-div2	ZFR	0.255437539	8.08E-10	Transcription regulatory protein	BrainSpLMD|51663;Eurexp|euxassay_011649|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|615635
RG-div2	SETBP1	0.264865841	8.10E-10	Transcription regulatory protein	BrainSpLMD|26040	SFARI||Autism, 3 - Suggestive evidence;OMIM|611060;COSMIC||aCML, sAML, MDS/MPN-U, CMML, JMML, neuroepithelial tumours;HPO|26040|Abnormality of the nasopharynx, Absent speech, Anteverted nares, Aplasia/Hypoplasia of the pubic bone, Atrial septal defect, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bicornuate uterus, Brachycephaly, Broad ribs, Cerebral atrophy, Choanal stenosis, Coarse facial features, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Facial hemangioma, Failure to thrive, Hepatoblastoma, High forehead, High palate, Hydronephrosis, Hydroureter, Hyperconvex nail, Hypertelorism, Hypertrichosis, Hypoplasia of first ribs, Hypoplasia of the corpus callosum, Hypoplastic labia majora, Hypoplastic labia minora, Hypoplastic nipples, Hypospadias, Hypsarrhythmia, Increased density of long bones, Intellectual disability, Long clavicles, Long face, Low-set ears, Macroglossia, Malar flattening, Metopic suture patent to nasal root, Micropenis, Midface retrusion, Motor delay, Narrow palate, Opisthotonus, Pointed chin, Postaxial hand polydactyly, Postnatal growth retardation, Prominent forehead, Ptosis, Sacrococcygeal teratoma, Sclerosis of skull base, Scrotal hypoplasia, Seizures, Shallow orbits, Short 1st metacarpal, Short distal phalanx of finger, Short neck, Short nose, Short sternum, Single transverse palmar crease, Sloping forehead, Synophrys, Talipes equinovarus, Thickened cortex of long bones, Thin upper lip vermilion, Tibial bowing, Ureteral stenosis, Ventriculomegaly, Wide distal femoral metaphysis, Widely patent fontanelles and sutures, Wormian bones
RG-div2	APOA1BP	0.712997371	8.29E-10			
RG-div2	SLC16A9	1.214789236	8.30E-10	Membrane transport protein	BrainSpLMD|220963;Eurexp|euxassay_009116|choroid invagination, choroid plexus, meninges	OMIM|614242
RG-div2	KPNB1	0.613940212	8.31E-10	Transport/cargo protein	BrainSpLMD|3837;Eurexp|euxassay_006809|embryo	OMIM|602738
RG-div2	VSIG10	0.584507195	8.34E-10	Unclassified	BrainSpLMD|54621	
RG-div2	STK17A	1.141184805	8.61E-10	Serine/threonine kinase	BrainSpLMD|9263	OMIM|604726
RG-div2	ALDH7A1	0.685942547	8.73E-10	Enzyme: Oxidoreductase	BrainSpLMD|501	OMIM|107323;HPO|501|Abnormality of metabolism/homeostasis, Abnormality of movement, Autosomal recessive inheritance, Delayed speech and language development, EEG abnormality, Fetal distress, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Intellectual disability, Muscular hypotonia, Neonatal respiratory distress, Neurological speech impairment, Prenatal movement abnormality, Respiratory distress, Status epilepticus
RG-div2	RIN2	0.382075929	8.87E-10	Guanine nucleotide exchange factor	BrainSpLMD|54453	OMIM|610222;HPO|54453|Abnormality of the sternum, Alopecia, Autosomal recessive inheritance, Bruising susceptibility, Coarse facial features, Cognitive impairment, Cutis laxa, Decreased body weight, Downslanted palpebral fissures, Eclabion, Gingival overgrowth, High palate, High pitched voice, Hirsutism, Hyperextensible skin, Infra-orbital fold, Irregular dentition, Joint hypermobility, Long philtrum, Muscular hypotonia, Palpebral edema, Pes planus, Prolonged bleeding time, Redundant skin, Scoliosis, Short stature, Sparse and thin eyebrow, Sparse hair, Sparse scalp hair, Thick lower lip vermilion, Umbilical hernia, Upper eyelid edema
RG-div2	PTBP1	0.952467305	9.15E-10	Ribonucleoprotein	BrainSpLMD|5725	OMIM|600693
RG-div2	PPP1CA	0.839881355	9.21E-10	Serine/threonine phosphatase	BrainSpLMD|5499	OMIM|176875
RG-div2	ADH5	0.643260735	9.26E-10	Enzyme: Oxidoreductase	BrainSpLMD|128;Eurexp|euxassay_006991|embryo	OMIM|103710
RG-div2	MLLT10	0.582184534	9.65E-10	Transcription factor	BrainSpLMD|8028	OMIM|602409;COSMIC||AL
RG-div2	PEX19	0.795606152	9.75E-10	Integral membrane protein	BrainSpLMD|5824	OMIM|600279;HPO|5824|Abnormal cortical bone morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the hairline, Abnormality of the liver, Abnormality of the male genitalia, Abnormality of the palate, Anteverted nares, Ataxia, Atrial septal defect, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, CNS demyelination, Cataract, Central hypotonia, Cerebral atrophy, Cholelithiasis, Chorioretinal abnormality, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cranial asymmetry, Cryptorchidism, Death in infancy, Decreased body weight, Decreased fetal movement, Delayed closure of the anterior fontanelle, Depressed nasal bridge, Developmental regression, Dolichocephaly, Double outlet right ventricle, EEG abnormality, Elevated hepatic transaminases, Elevated levels of phytanic acid, Elevated long chain fatty acids, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Global developmental delay, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydrocephalus, Hydronephrosis, Hyperbilirubinemia, Hyperreflexia, Hypospadias, Jaundice, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Muscular hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Patent ductus arteriosus, Periorbital fullness, Polymicrogyria, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Prominent nose, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Renal tubular dysfunction, Respiratory insufficiency, Rod-cone dystrophy, Scaphocephaly, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Skeletal dysplasia, Spasticity, Strabismus, Triangular face, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
RG-div2	C18orf54	0.363910806	9.80E-10	Unclassified		OMIM|613258
RG-div2	EIF2S2P4	0.532680186	9.94E-10			
RG-div2	WDR35	0.870865414	1.04E-09	Unclassified	BrainSpLMD|57539	OMIM|613602;HPO|57539|Abdominal distention, Abnormal diaphysis morphology, Abnormal pelvis bone ossification, Abnormal toenail morphology, Abnormality of cardiovascular system morphology, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormality of the pinna, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Anteverted nares, Autosomal recessive inheritance, Blepharophimosis, Bowing of the long bones, Brachydactyly, Cleft upper lip, Congenital hepatic fibrosis, Craniosynostosis, Cryptorchidism, Cystic hygroma, Depressed nasal bridge, Disproportionate short-limb short stature, Dolichocephaly, Ectodermal dysplasia, Epicanthus, Everted lower lip vermilion, Finger syndactyly, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypertelorism, Hypodontia, Hypoplasia of penis, Hypoplastic scapulae, Hypospadias, Hypotelorism, Inguinal hernia, Joint hyperflexibility, Joint laxity, Lethal skeletal dysplasia, Long philtrum, Low-set ears, Macrocephaly, Microdontia, Micrognathia, Micromelia, Narrow chest, Osteoporosis, Pectus excavatum, Polycystic kidney dysplasia, Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Prominent occiput, Pulmonary hypoplasia, Renal cyst, Renal hypoplasia, Respiratory insufficiency, Rhizomelia, Short distal phalanx of finger, Short foot, Short long bone, Short neck, Short palm, Short ribs, Short thorax, Sparse hair, Syndactyly, Telecanthus, Thoracic dysplasia, Urethrovaginal fistula, Uterus didelphys, Wide nose, Widely spaced teeth
RG-div2	KIF1B	0.639636161	1.13E-09	Motor protein	BrainSpLMD|23095;Eurexp|euxassay_013179|diaphragm, floor plate, floorplate, footplate, handplate, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, ventricular layer, vertebral axis muscle system	OMIM|605995;HPO|23095|Areflexia, Autosomal dominant inheritance, Axonal degeneration/regeneration, Cafe-au-lait spot, Cerebral hemorrhage, Congenital cataract, Congestive heart failure, Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Elevated urinary norepinephrine, Episodic hypertension, Foot dorsiflexor weakness, Hammertoe, Hemangioma, Heterogeneous, Hypercalcemia, Hyperhidrosis, Hypertensive retinopathy, Hyporeflexia, Neoplasm, Onion bulb formation, Onset, Peripheral axonal atrophy, Pes cavus, Pheochromocytoma, Positive regitine blocking test, Proteinuria, Renal artery stenosis, Slow progression, Steppage gait, Tachycardia
RG-div2	NCAPH	1.205848691	1.15E-09	Cell cycle control protein	BrainSpLMD|23397;Eurexp|euxassay_002558|ventricular layer	OMIM|602332
RG-div2	EIF2S2	0.514319861	1.21E-09	Translation regulatory protein	BrainSpLMD|8894	OMIM|603908
RG-div2	BCCIP	0.328574774	1.21E-09	Cell cycle control protein	BrainSpLMD|56647;Eurexp|euxassay_006212|axial muscle, cortex, orbito-sphenoid, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|611883
RG-div2	SH3BGRL	0.370145793	1.21E-09	Unclassified	BrainSpLMD|6451	OMIM|300190
RG-div2	LINC00674	0.561463544	1.21E-09			
RG-div2	POLR2G	0.635409331	1.24E-09	RNA polymerase	BrainSpLMD|5436	OMIM|602013
RG-div2	RAD21	0.282252032	1.24E-09	DNA binding protein	BrainSpLMD|5885	OMIM|606462;COSMIC||AML, endometrium, colorectal, lung, Cornelia de Lange syndrome-4;HPO|5885|Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Clinodactyly of the 5th finger, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downturned corners of mouth, Elbow dislocation, Exostoses, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phenotypic variability, Phthisis bulbi, Premature birth, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Smooth philtrum, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Vesicoureteral reflux, Wide nasal bridge, Widely spaced teeth
RG-div2	COLGALT1	0.462869701	1.26E-09	Unclassified	BrainSpLMD|79709	OMIM|617531
RG-div2	PPRC1	1.291745136	1.28E-09	Transcription regulatory protein	BrainSpLMD|23082	OMIM|617462
RG-div2	SP1	1.037808253	1.29E-09	Transcription factor	BrainSpLMD|6667	OMIM|189906
RG-div2	DCTPP1	0.759431824	1.29E-09	Unclassified	BrainSpLMD|79077;Eurexp|euxassay_007838|axial muscle, cortex, incisor, left lung, lumen, mandible, molar, orbito-sphenoid, palatal shelf, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vertebral axis muscle system	OMIM|615840
RG-div2	TPX2	0.756441921	1.30E-09	Cell cycle control protein	BrainSpLMD|22974	OMIM|605917
RG-div2	CCNL1	0.365143675	1.32E-09	RNA binding protein	BrainSpLMD|57018	OMIM|613384
RG-div2	ELP4	0.749665851	1.32E-09	Enzyme: Acyltransferase	BrainSpLMD|26610	SFARI||Autism, 3 - Suggestive evidence;OMIM|606985;HPO|26610|Aniridia, Autosomal dominant inheritance, Cataract, Glaucoma, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Nystagmus, Opacification of the corneal stroma, Optic nerve hypoplasia
RG-div2	MIS18A	0.575375947	1.34E-09	Unclassified	BrainSpLMD|54069	
RG-div2	ARPP19	0.386400679	1.36E-09	Unclassified	BrainSpLMD|10776	OMIM|605487
RG-div2	TMEM131	0.784517478	1.41E-09	Unclassified	Eurexp|euxassay_015895|thymus primordium	OMIM|615659
RG-div2	POLQ	1.166972369	1.43E-09	DNA polymerase	BrainSpLMD|10721	OMIM|604419;COSMIC||oral SCC, breast cancer
RG-div2	CHD9	0.41154458	1.48E-09	DNA binding protein	BrainSpLMD|80205	OMIM|616936
RG-div2	RP11.278C7.1	0.288990265	1.63E-09			
RG-div2	ZNF621	0.869968815	1.67E-09	Transcription regulatory protein	BrainSpLMD|285268	
RG-div2	ARAP2	1.316176221	1.67E-09	GTPase activating protein	BrainSpLMD|116984	OMIM|606645
RG-div2	HADHA	0.463180104	1.68E-09	Enzyme: Dehydrogenase	BrainSpLMD|3030	OMIM|600890;HPO|3030|Abnormality of the amniotic fluid, Autosomal recessive inheritance, Cardiomyopathy, Congestive heart failure, Decreased activity of 3-hydroxyacyl-CoA dehydrogenase, Dilated cardiomyopathy, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Generalized muscle weakness, Global developmental delay, Hepatomegaly, Hydrops fetalis, Hyperammonemia, Hypoglycemia, Hypoketotic hypoglycemia, Lactic acidosis, Muscular hypotonia, Myalgia, Myoglobinuria, Peripheral neuropathy, Pigmentary retinopathy, Prenatal maternal abnormality, Respiratory failure, Rhabdomyolysis, Small for gestational age, Sudden death
RG-div2	GCA	0.530558862	1.75E-09	Calcium binding protein	BrainSpLMD|25801;Eurexp|euxassay_012524|ventricular layer	OMIM|607030
RG-div2	KAZN	0.921952925	1.77E-09	Unclassified	BrainSpLMD|23254	
RG-div2	PRRC2A	0.772858297	1.77E-09	Unclassified	BrainSpLMD|7916	OMIM|142580
RG-div2	LINC01224	1.042890208	1.78E-09			
RG-div2	REEP3	0.538512512	1.84E-09	Unclassified	BrainSpLMD|221035;Eurexp|euxassay_004457|digit 1, digit 2, digit 3, digit 4, digit 5, footplate, handplate, lower leg, trigeminal V, valve, ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|609348
RG-div2	HIPK2	0.250882787	1.85E-09	Serine/threonine kinase	BrainSpLMD|28996	OMIM|606868
RG-div2	TUBG1	0.771286771	1.85E-09	Cytoskeletal protein	BrainSpLMD|7283	OMIM|191135;HPO|7283|Autosomal dominant inheritance, Cortical dysplasia, Global developmental delay, Microcephaly, Seizures, Variable expressivity
RG-div2	SRGAP2C	0.436192063	1.87E-09			OMIM|614704
RG-div2	IRF2	0.657466516	1.91E-09	Transcription factor	BrainSpLMD|3660;BrainSpMouseDev|16136	OMIM|147576
RG-div2	PTPLAD1	0.324997948	1.93E-09			
RG-div2	MLEC	0.479013735	1.96E-09	Unclassified	BrainSpLMD|9761;Eurexp|euxassay_016414|clavicle, lung, mandible, maxilla, orbito-sphenoid, submandibular gland primordium, temporal bone, turbinate	OMIM|613802
RG-div2	CYP51A1P2	0.444719663	2.02E-09			
RG-div2	MFGE8	0.483473139	2.14E-09	Adhesion molecule	BrainSpLMD|4240;Eurexp|euxassay_010873|Meckel's cartilage, epithelium, oesophagus, ovary, pharyngo-tympanic tube, stomach, submandibular gland primordium, ventricular layer;BrainSpMouseDev|17073	OMIM|602281
RG-div2	PPIAP22	0.267033337	2.16E-09			
RG-div2	HSD17B12	0.526294152	2.23E-09	Enzyme: Dehydrogenase	BrainSpLMD|51144	OMIM|609574
RG-div2	DYNC2H1	0.413157117	2.27E-09	Motor protein	Eurexp|euxassay_014017|olfactory, ventricular layer	OMIM|603297;HPO|79659|Abdominal distention, Abnormal pelvis bone ossification, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Brachydactyly, Cleft upper lip, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypoplasia of penis, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Narrow chest, Postaxial hand polydactyly, Renal hypoplasia, Respiratory insufficiency, Short foot, Short palm, Short ribs, Short thorax, Skeletal dysplasia, Urethrovaginal fistula, Uterus didelphys, Wide nose
RG-div2	PTGES3P1	0.387353743	2.28E-09			
RG-div2	GEN1	0.853488596	2.46E-09	DNA binding protein	BrainSpLMD|348654	OMIM|612449
RG-div2	IDH1	0.559542552	2.48E-09	Enzyme: Dehydrogenase	BrainSpLMD|3417;Eurexp|euxassay_018329|adrenal gland, brain, cervical, cervico-thoracic, clavicle, dorsal root ganglion, glossopharyngeal IX, neural retina, rib, spinal cord, stroma, testis, thoracic, trigeminal V, turbinate bones, vagus X, vestibulocochlear VIII, vibrissa	OMIM|147700;COSMIC||glioblastoma;HPO|3417|Abnormality of the metaphysis, Bone pain, Exostoses, Hemangiomatosis, Joint stiffness, Micromelia, Multiple enchondromatosis, Osteolysis, Scoliosis, Short stature, Subcutaneous nodule, Venous thrombosis, Visceral angiomatosis
RG-div2	CNTFR	0.771294039	2.61E-09	Cell surface receptor	BrainSpLMD|1271	OMIM|118946
RG-div2	IGF2BP2	0.467736045	2.65E-09	RNA binding protein	BrainSpLMD|10644	OMIM|608289
RG-div2	HSD17B7	0.422488653	2.73E-09	Enzyme: Dehydrogenase	Eurexp|euxassay_000551|dorsal root ganglion, marginal layer, neural retina, spleen primordium, testis	OMIM|606756
RG-div2	ZNF738	0.277183731	2.99E-09	Transcription regulatory protein	BrainSpLMD|148203	
RG-div2	SPC25	0.650720098	3.11E-09	Cell cycle control protein	BrainSpLMD|57405;Eurexp|euxassay_000451|mantle layer, medulla oblongata, ventral grey horn, ventricular layer	OMIM|609395
RG-div2	CTC.308K20.3	0.404379716	3.47E-09			
RG-div2	NTRK3	0.494690013	3.49E-09	Receptor tyrosine kinase	BrainSpLMD|4916;Eurexp|euxassay_017897|corpus striatum, dorsal root ganglion, mantle layer, marginal layer, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|17980	SFARI||Autism, 4 - Minimal evidence;OMIM|191316;COSMIC||congenital fibrosarcoma, secretory breast
RG-div2	NCAPD2	0.582501116	3.56E-09	DNA binding protein	BrainSpLMD|9918;Eurexp|euxassay_005651|embryo	OMIM|615638
RG-div2	ASPH	1.131056043	3.64E-09	Enzyme: Hydroxylase	BrainSpLMD|444	OMIM|600582;HPO|444|Abnormal facial shape, Autosomal recessive inheritance, Convex nasal ridge, Dental malocclusion, Downslanted palpebral fissures, Ectopia lentis, Iris atrophy, Large beaked nose, Prominent nose, Retrognathia
RG-div2	H2AFY	0.265765851	3.79E-09	DNA binding protein	BrainSpLMD|9555	OMIM|610054
RG-div2	TMEM47	0.902235187	3.81E-09	Integral membrane protein	BrainSpLMD|83604;Eurexp|euxassay_008336|ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|300698
RG-div2	C14orf23	0.34821747	4.02E-09			
RG-div2	MRPL57	0.351413651	4.05E-09	Unclassified	BrainSpLMD|78988	OMIM|611997
RG-div2	ZNF217	0.263681262	4.18E-09	Transcription factor	BrainSpLMD|7764	OMIM|602967
RG-div2	TLE1	0.56454835	4.20E-09	Transcription regulatory protein	BrainSpLMD|7088;Eurexp|euxassay_017921|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, pituitary, stroma, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|21644	OMIM|600189
RG-div2	RPSAP58	1.056924956	4.30E-09		BrainSpLMD|388524	
RG-div2	RAB3GAP2	0.593508573	4.39E-09	GTPase activating protein	BrainSpLMD|25782	OMIM|609275;HPO|25782|Abnormal dermatoglyphics, Abnormal toenail morphology, Abnormality of retinal pigmentation, Abnormality of the distal phalanx of finger, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Asymmetry of the ears, Autosomal recessive inheritance, Brachycephaly, Broad fingertip, Broad nasal tip, Cardiomyopathy, Cataract, Cerebral cortical atrophy, Clitoral hypoplasia, Congenital cataract, Congestive heart failure, Cortical visual impairment, Cryptorchidism, Delayed puberty, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Everted lower lip vermilion, Feeding difficulties in infancy, Flexion contracture, Furrowed tongue, Generalized hirsutism, Global brain atrophy, Global developmental delay, High palate, Hyperlordosis, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypotelorism, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphosis, Lissencephaly, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Macrotia, Malar flattening, Metatarsus adductus, Microcephaly, Microcornea, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Misalignment of teeth, Muscular hypotonia, Muscular hypotonia of the trunk, Optic atrophy, Overlapping toe, Pachygyria, Pectus carinatum, Pectus excavatum, Polymicrogyria, Posteriorly rotated ears, Postnatal growth retardation, Postnatal microcephaly, Prematurely aged appearance, Prominent antitragus, Prominent nasal bridge, Prominent nipples, Recurrent respiratory infections, Scoliosis, Scrotal hypoplasia, Severe global developmental delay, Short metacarpal, Short nose, Short palm, Short phalanx of finger, Short philtrum, Short stature, Short toe, Slender ulna, Spasticity, Talipes equinovarus, Talipes valgus, Tracheomalacia, Ulnar deviation of finger, Undetectable visual evoked potentials, Wide nasal bridge
RG-div2	PER1	0.257531115	4.40E-09	Transcription regulatory protein	BrainSpLMD|5187;BrainSpMouseDev|18392	SFARI||Autism, 4 - Minimal evidence;OMIM|602260;COSMIC||AML, CMML
RG-div2	NDE1	0.492405535	4.58E-09	Cytoskeletal associated protein	BrainSpLMD|54820;Eurexp|euxassay_010375|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ;BrainSpMouseDev|43046	OMIM|609449;HPO|54820|Agenesis of corpus callosum, Athetosis, Autosomal recessive inheritance, Cerebellar hypoplasia, Congenital onset, Cortical gyral simplification, Generalized myoclonic seizures, Global developmental delay, Hydranencephaly, Hyperreflexia, Hypoplasia of the brainstem, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Lissencephaly, Macrotia, Microcephaly, Multiple joint contractures, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Proptosis, Seizures, Self-mutilation, Short stature, Skeletal muscle atrophy, Sloping forehead, Spastic tetraplegia, Talipes equinovarus, Ventriculomegaly
RG-div2	TCEA1P2	0.411439981	4.63E-09			
RG-div2	CANX	0.356814876	4.64E-09	Chaperone	BrainSpLMD|821	OMIM|114217
RG-div2	DDX11	1.066544126	4.83E-09	RNA binding protein		SFARI||Autism, 5 - Hypothesized but untested;OMIM|601150;HPO|1663|2-3 toe syndactyly, Autosomal recessive inheritance, Cupped ear, Cutis marmorata, Epicanthus, Generalized hypotonia, Global developmental delay, Hearing impairment, High palate, Hypoplasia of the cochlea, Intellectual disability, Intrauterine growth retardation, Microcephaly, Optic nerve coloboma, Single transverse palmar crease, Sloping forehead, Small face, Ventricular septal defect, Wide mouth
RG-div2	FOXN2	0.328105162	5.02E-09	DNA binding protein	BrainSpLMD|3344;Eurexp|euxassay_019499|incisor, liver, lung, mandible, mantle layer, marginal layer, maxilla, molar, submandibular gland primordium, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|14013	OMIM|143089
RG-div2	BAI3	0.327466341	5.03E-09			
RG-div2	BANF1	0.324715088	5.12E-09	DNA binding protein	BrainSpLMD|8815	OMIM|603811;HPO|8815|Abnormality of the forearm, Abnormality of the ribs, Atherosclerosis, Autosomal recessive inheritance, Convex nasal ridge, Delayed closure of the anterior fontanelle, Dental crowding, Failure to thrive, Flexion contracture, Joint stiffness, Lipoatrophy, Malar flattening, Micrognathia, Midface retrusion, Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Progressive clavicular acroosteolysis, Proptosis, Pulmonary arterial hypertension, Right bundle branch block, Scoliosis, Short stature, Sinus tachycardia, Sparse and thin eyebrow, Sparse eyelashes, Spotty hyperpigmentation, Wide cranial sutures
RG-div2	SVIL	0.511004455	5.18E-09	Cytoskeletal associated protein	BrainSpLMD|6840;Eurexp|euxassay_011675|epidermis, exoccipital bone, meninges, midgut, pharyngo-tympanic tube, skeletal muscle, stomach, vibrissa	OMIM|604126
RG-div2	ATRAID	0.92815651	5.32E-09	Unclassified	BrainSpLMD|51374	
RG-div2	GANAB	0.654770393	5.36E-09	Enzyme: Hydrolase	BrainSpLMD|23193	OMIM|104160;HPO|23193|Autosomal dominant inheritance, Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia, Variable expressivity
RG-div2	CKLF	0.566714751	5.51E-09	Chemokine	BrainSpLMD|51192	OMIM|616074
RG-div2	TSPAN18	1.279095206	5.58E-09	Integral membrane protein	BrainSpLMD|90139;Eurexp|euxassay_002400|ventricular layer	
RG-div2	LIX1	0.508968089	5.88E-09	Unclassified	BrainSpLMD|167410	OMIM|610466
RG-div2	LRR1	0.928843654	5.88E-09	Unclassified	BrainSpLMD|122769	OMIM|609193
RG-div2	HSD17B7P2	1.055203472	5.90E-09		BrainSpLMD|158160	
RG-div2	LDHAP4	0.831547746	6.11E-09			
RG-div2	NKAIN3	0.762093915	6.19E-09	Unclassified	BrainSpLMD|286183	OMIM|612872
RG-div2	UBE2N	0.38634861	6.36E-09	Ubiquitin proteasome system protein	BrainSpLMD|7334	OMIM|603679
RG-div2	STARD9	0.645136303	6.39E-09	Unclassified		OMIM|614642
RG-div2	ZNF121	0.265556733	6.71E-09	DNA binding protein	BrainSpLMD|7675	OMIM|194628
RG-div2	STIL	1.107334678	6.77E-09	Unclassified	BrainSpLMD|6491	OMIM|181590;COSMIC||T-ALL;HPO|6491|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Congenital onset, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
RG-div2	EIF2AK2	0.452860989	6.87E-09	Serine/threonine kinase	BrainSpLMD|5610	OMIM|176871
RG-div2	MAGI3	0.638152518	6.95E-09	Unclassified	BrainSpLMD|260425;Eurexp|euxassay_011395|axial skeleton, facial VII, femur, fibula, glossopharyngeal IX, left lung, olfactory, rib, right lung, tibia, trigeminal V, vagus X, vomeronasal organ	OMIM|615943
RG-div2	SLC3A2	0.662412023	7.02E-09	Membrane transport protein	BrainSpLMD|6520;Eurexp|euxassay_007752|incisor, liver, mantle layer, meninges, midgut, molar, submandibular gland primordium, thymus primordium, vibrissa	OMIM|158070
RG-div2	MRPL17	0.812983518	7.12E-09	Ribosomal subunit	BrainSpLMD|63875;Eurexp|euxassay_010706|axial skeleton, clavicle, liver, mandible, maxilla, orbito-sphenoid, rib, submandibular gland primordium, thymus primordium, turbinate bones	OMIM|611830
RG-div2	WBP5	0.327148043	7.28E-09			
RG-div2	PLTP	1.168943585	7.33E-09	Transport/cargo protein	BrainSpLMD|5360	OMIM|172425
RG-div2	DTX4	0.328467952	7.34E-09	Ubiquitin proteasome system protein	Eurexp|euxassay_015898|floor plate, floorplate, ventricular layer;BrainSpMouseDev|83873	OMIM|616110
RG-div2	GRHPR	0.595251727	7.41E-09	Enzyme: Reductase	BrainSpLMD|9380;Eurexp|euxassay_000601|adrenal gland	OMIM|604296;HPO|9380|Aminoaciduria, Autosomal recessive inheritance, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Variable expressivity
RG-div2	CTNND1	0.31866172	7.82E-09	Adhesion molecule	BrainSpLMD|1500;BrainSpMouseDev|12173	OMIM|601045;COSMIC||large intestine carcinoma
RG-div2	DHX9	0.292389661	7.83E-09	Transcription factor	BrainSpLMD|1660;Eurexp|euxassay_010959|brain, cochlea, epithelium, facial VII, glossopharyngeal IX, incisor, left lung, marginal layer, metanephros, midgut, molar, olfactory, pancreas, pharyngo-tympanic tube, retina, right lung, spinal cord, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, utricle, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|603115
RG-div2	NKAIN4	0.601735253	7.91E-09	Unclassified	BrainSpLMD|128414	OMIM|612873
RG-div2	DCAF16	0.385809194	8.03E-09	Unclassified	BrainSpLMD|54876	
RG-div2	GLDC	0.996927336	8.48E-09	Enzyme: Decarboxylase	BrainSpLMD|2731	OMIM|238300;HPO|2731|Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Death in infancy, Encephalopathy, Generalized hypotonia, Hyperactivity, Hyperglycinemia, Hyperglycinuria, Hyperreflexia, Impulsivity, Intellectual disability, Irritability, Lethargy, Myoclonus, Recurrent singultus, Restlessness, Seizures
RG-div2	PMS2P1	0.637302384	8.55E-09			OMIM|605038
RG-div2	AGO2	0.406379079	8.64E-09	Translation regulatory protein	BrainSpLMD|27161	OMIM|606229
RG-div2	HIF3A	0.365765892	8.72E-09	Transcription factor	BrainSpLMD|64344;BrainSpMouseDev|32897	OMIM|609976
RG-div2	HAUS1	0.546322865	8.75E-09	Cell cycle control protein	BrainSpLMD|115106;Eurexp|euxassay_003161|chondrocranium, cortex, incisor, lobe, oesophagus, pancreas, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|608775
RG-div2	RACGAP1	0.728548784	8.89E-09	GTPase activating protein	BrainSpLMD|29127;Eurexp|euxassay_005572|dorsal grey horn, ventricular layer	OMIM|604980
RG-div2	SDHD	0.759504889	9.03E-09	Enzyme: Dehydrogenase	BrainSpLMD|6392	OMIM|602690;COSMIC||paraganglioma, pheochromocytoma;HPO|6392|Abdominal pain, Abnormal mitochondria in muscle tissue, Abnormality of mitochondrial metabolism, Abnormality of the penis, Adenoma sebaceum, Adult onset, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Breast carcinoma, Cafe-au-lait spot, Cavernous hemangioma, Cerebral hemorrhage, Chemodectoma, Cognitive impairment, Colorectal polyposis, Conductive hearing impairment, Congenital cataract, Congestive heart failure, Conjunctival hamartoma, Cranial nerve paralysis, Decreased activity of mitochondrial complex II, Developmental regression, Dilated cardiomyopathy, Dysphagia, Dystonia, Elevated circulating catecholamine level, Elevated urinary norepinephrine, Episodic hypertension, Episodic paroxysmal anxiety, Exercise intolerance, Flexion contracture, Furrowed tongue, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Generalized hyperkeratosis, Global developmental delay, Glomus jugular tumor, Glomus tympanicum paraganglioma, Goiter, Hamartomatous polyposis, Hearing impairment, Hemangioma, Hoarse voice, Hypercalcemia, Hyperhidrosis, Hyperreflexia, Hypertension associated with pheochromocytoma, Hypertensive retinopathy, Hypertrophic cardiomyopathy, Increased intramyocellular lipid droplets, Increased serum lactate, Infantile onset, Intellectual disability, Intestinal carcinoid, Intestinal obstruction, Left ventricular noncompaction, Leukoencephalopathy, Lipoma, Loss of voice, Macrocephaly, Macroglossia, Macule, Melanocytic nevus, Meningioma, Mucosal telangiectasiae, Muscle weakness, Myoclonus, Neonatal hypotonia, Neoplasm, Neoplasm of the gastrointestinal tract, Neoplasm of the thyroid gland, Nystagmus, Ophthalmoplegia, Optic atrophy, Palmoplantar keratoderma, Palpitations, Papilloma, Papule, Paraganglioma, Phenotypic variability, Pheochromocytoma, Pigmentary retinopathy, Positive regitine blocking test, Progressive leukoencephalopathy, Proteinuria, Ptosis, Pulsatile tinnitus, Ragged-red muscle fibers, Recurrent paroxysmal headache, Renal artery stenosis, Renal cell carcinoma, Seizures, Short stature, Spasticity, Stress/infection-induced lactic acidosis, Subcutaneous nodule, Tachycardia, Tinnitus, Uterine leiomyoma, Vagal paraganglioma, Visual impairment, Vocal cord paralysis, Weight loss
RG-div2	CEP83	1.029278829	9.08E-09	Unclassified	BrainSpLMD|51134;Eurexp|euxassay_005968|brain, cervical, cervico-thoracic, cochlea, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, lip, olfactory, oral epithelium, oral region, palatal shelf, spinal cord, submandibular gland primordium, thoracic, thymus primordium, tongue, trigeminal V, utricle, vagus X, vestibulocochlear VIII	OMIM|615847;HPO|51134|Autosomal recessive inheritance, Nephronophthisis, Stage 5 chronic kidney disease, Thickening of the glomerular basement membrane, Tubular atrophy, Tubulointerstitial nephritis
RG-div2	SF3B4	0.381322989	9.35E-09	RNA binding protein	BrainSpLMD|10262	OMIM|605593;HPO|10262|Abnormal nasal morphology, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the cervical spine, Absent radius, Absent thumb, Aganglionic megacolon, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the ulna, Aqueductal stenosis, Arrhinencephaly, Atresia of the external auditory canal, Autosomal dominant inheritance, Bicornuate uterus, Broad hallux, Cleft palate, Cleft upper lip, Clinodactyly, Conductive hearing impairment, Delayed speech and language development, Downslanted palpebral fissures, Fibular hypoplasia, Foot oligodactyly, Gastroschisis, Hallux valgus, Hand oligodactyly, Hearing impairment, Hip dislocation, Hydrocephalus, Hypoplasia of first ribs, Hypoplasia of the epiglottis, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the zygomatic bone, Joint stiffness, Laryngeal hypoplasia, Limited elbow extension, Low-set ears, Lower eyelid coloboma, Malar flattening, Microcephaly, Micrognathia, Microretrognathia, Microtia, Midface retrusion, Overlapping toe, Polymicrogyria, Posteriorly rotated ears, Preauricular skin tag, Premature birth, Prominent nasal bridge, Ptosis, Radial deviation of finger, Radioulnar synostosis, Respiratory insufficiency, Retrognathia, Scoliosis, Short stature, Short toe, Skeletal dysplasia, Sparse lower eyelashes, Sprengel anomaly, Talipes equinovarus, Tetralogy of Fallot, Toe syndactyly, Triphalangeal thumb, Trismus, Unilateral renal agenesis, Urticaria, Variable expressivity, Velopharyngeal insufficiency, Wide mouth
RG-div2	RBL1	0.918771459	9.90E-09	Cell cycle control protein	BrainSpLMD|5933	OMIM|116957
RG-div2	TRIM45	0.89831125	9.92E-09	Transcription regulatory protein	BrainSpLMD|80263;Eurexp|euxassay_011322|axial skeleton, olfactory, vomeronasal organ	OMIM|609318
RG-div2	IER2	0.554070075	1.00E-08	Transcription factor	BrainSpLMD|9592;Eurexp|euxassay_013742|cochlea, incisor, molar, submandibular gland primordium, utricle, vestibular component, vibrissa	
RG-div2	FAM13A	0.315599086	1.00E-08	Unclassified	BrainSpLMD|10144	OMIM|613299
RG-div2	PM20D2	1.138601576	1.01E-08	Metallo protease		OMIM|615913
RG-div2	RAB31	0.408232428	1.01E-08	GTPase	BrainSpLMD|11031;Eurexp|euxassay_003248|axial muscle, basal plate, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, submandibular gland primordium, thoracic, trigeminal V, vagus X, vibrissa	OMIM|605694
RG-div2	SRGAP2B	0.638891344	1.02E-08			OMIM|614703
RG-div2	LIMA1	0.737471279	1.19E-08	Cytoskeletal protein	BrainSpLMD|51474	OMIM|608364
RG-div2	RNPS1	0.2566998	1.20E-08	RNA binding protein	BrainSpLMD|10921	SFARI||Autism, No category;OMIM|606447
RG-div2	ARHGEF26	0.975301667	1.21E-08		BrainSpLMD|26084;Eurexp|euxassay_016114|ventricular layer	OMIM|617552
RG-div2	RAP1B	0.473912226	1.21E-08	GTPase	BrainSpLMD|5908	OMIM|179530;HPO|5908|Abnormal dermatoglyphics, Abnormality of the cardiac septa, Butterfly vertebrae, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Conductive hearing impairment, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Hemivertebrae, High palate, Highly arched eyebrow, Hydrocephalus, Hypodontia, Joint hyperflexibility, Long eyelashes, Macrotia, Microcephaly, Microdontia, Muscular hypotonia, Protruding ear, Ptosis, Recurrent infections, Scoliosis, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Sparse lateral eyebrow, Strabismus, Ventriculomegaly, Widely spaced teeth
RG-div2	HSP90AA1	0.254909698	1.25E-08	Chaperone	BrainSpLMD|3320;Eurexp|euxassay_010007|cervical, cervico-thoracic, choroid plexus, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, mandible, mantle layer, midgut, molar, neural retina, olfactory, pancreas, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, vagus X, ventral grey horn, ventricular layer, vomeronasal organ	OMIM|140571;COSMIC||NHL
RG-div2	DHRS7	0.890641592	1.30E-08	Enzyme: Dehydrogenase	BrainSpLMD|51635;Eurexp|euxassay_000191|alveolar sulcus, dorsal mesocardium, left atrium, mantle layer, marginal layer, ventricular layer	OMIM|612833
RG-div2	DNAJC19	0.259409157	1.30E-08	Enzyme: Translocase	BrainSpLMD|131118	SFARI||Autism, 5 - Hypothesized but untested;OMIM|608977;HPO|131118|3-Methylglutaric aciduria, Autosomal recessive inheritance, Congestive heart failure, Cryptorchidism, Decreased testicular size, Dilated cardiomyopathy, Glutaric aciduria, Hypospadias, Intellectual disability, Intrauterine growth retardation, Microvesicular hepatic steatosis, Muscle weakness, Noncompaction cardiomyopathy, Nonprogressive cerebellar ataxia, Normochromic microcytic anemia, Optic atrophy, Postnatal growth retardation, Prolonged QT interval, Sudden cardiac death
RG-div2	KCNA3	0.846573423	1.37E-08	Voltage gated channel	BrainSpLMD|3738;Eurexp|euxassay_010872|mantle layer	OMIM|176263
RG-div2	C21orf58	0.377531402	1.43E-08	Unclassified	BrainSpLMD|54058	
RG-div2	DGCR2	1.392974203	1.45E-08	Adhesion molecule	BrainSpLMD|9993	OMIM|600594;HPO|9993|Abnormality of the ear, Abnormality of the endocrine system, Abnormality of the hand, Aggressive behavior, Autosomal dominant inheritance, Blepharophimosis, Bulbous nose, Cleft palate, Hypocalcemia, Inguinal hernia, Intellectual disability, Microcephaly, Mood swings, Muscular hypotonia, Nasal speech, Open mouth, Paranoia, Pierre-Robin sequence, Posterior embryotoxon, Recurrent infections, Retinal vascular tortuosity, Retrognathia, Right aortic arch with mirror image branching, Short stature, Specific learning disability, Tetralogy of Fallot, Umbilical hernia, Underdeveloped nasal alae, Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Ventricular septal defect
RG-div2	TOB2	0.698707128	1.46E-08	Cell cycle control protein	BrainSpLMD|10766;Eurexp|euxassay_002023|Meckel's cartilage, orbito-sphenoid	OMIM|607396
RG-div2	UBE2V2	0.280581176	1.46E-08	Ubiquitin proteasome system protein	BrainSpLMD|7336;Eurexp|euxassay_007283|embryo	OMIM|603001
RG-div2	NLGN1	0.798206214	1.50E-08	Adhesion molecule	BrainSpLMD|22871	SFARI||Autism, 3 - Suggestive evidence;OMIM|600568
RG-div2	GNAI2	0.367922429	1.51E-08	GTPase;G protein	BrainSpLMD|2771;Eurexp|euxassay_018077|submandibular gland primordium, ventricular layer, vibrissa	OMIM|139360;HPO|2771|Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Paroxysmal ventricular tachycardia, Sudden cardiac death
RG-div2	CBX6	0.472126892	1.52E-08	DNA binding protein	BrainSpLMD|23466	OMIM|617438
RG-div2	UQCRC1	0.677124807	1.59E-08	Enzyme: Reductase	BrainSpLMD|7384;Eurexp|euxassay_018647|axial muscle, bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, mantle layer, metanephros, right lung, submandibular gland primordium, trigeminal V, vagus X, ventral grey horn, vibrissa	OMIM|191328
RG-div2	NUTF2	0.278236926	1.60E-08	Transport/cargo protein	BrainSpLMD|10204;Eurexp|euxassay_015153|basal columns, brain, central nervous system, cerebellum, cerebral cortex, cortex, dermal component, dermis, dorsal root ganglion, drainage component, ear, epidermal component, epithelium, facial VII, floorplate, forebrain, incisor, inner ear, lateral wall, left lung, liver, liver and biliary system, lobe, lower jaw, lung, male, mandible, mantle layer, marginal layer, medullary region, mesenchyme, metanephros, molar, nasal cavity, nervous system, nucleus pulposus, otic capsule, petrous part, physiological umbilical hernia, renal/urinary system, rest of cerebellum, right lung, sublingual gland primordium, submandibular gland primordium, telencephalon, temporal bone, testis, thymus primordium, tooth, trigeminal V, turbinate bones, upper jaw, vagus X, ventricular layer, vibrissa	OMIM|605813
RG-div2	IL6ST	0.405957103	1.62E-08	Cytokine receptor	BrainSpLMD|3572;BrainSpMouseDev|15968	OMIM|600694;COSMIC||hepatocellular carcinoma
RG-div2	ACP1	0.794395127	1.63E-08	Enzyme: Acid phosphatase	BrainSpLMD|52;Eurexp|euxassay_003011|calyces, chondrocranium, incisor, lobe, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|171500
RG-div2	VEGFB	1.211988178	1.63E-08	Growth factor	BrainSpLMD|7423;BrainSpMouseDev|22097	OMIM|601398
RG-div2	RBM17	0.274346503	1.63E-08	RNA binding protein	BrainSpLMD|84991	OMIM|606935
RG-div2	RNF217	0.741397701	1.64E-08	Integral membrane protein	BrainSpLMD|154214;Eurexp|euxassay_010804|adrenal gland, mantle layer, vertebral axis muscle system	
RG-div2	TMTC1	1.594008049	1.69E-08	Unclassified	BrainSpLMD|83857;Eurexp|euxassay_013458|choroid plexus, dorsal root ganglion, mantle layer, trigeminal V, ventral grey horn	OMIM|615855
RG-div2	SNRPD1	0.419197548	1.74E-08	RNA binding protein	BrainSpLMD|6632	OMIM|601063
RG-div2	ORC3	0.417362026	1.84E-08	DNA binding protein	BrainSpLMD|23595	OMIM|604972
RG-div2	PARD3	0.795354977	1.88E-08	Adapter molecule	BrainSpLMD|56288;BrainSpMouseDev|60394	OMIM|606745
RG-div2	RFFL	1.139713677	1.96E-08	Unclassified	BrainSpLMD|117584	OMIM|609735
RG-div2	RNF180	0.425882531	1.97E-08	Unclassified	Eurexp|euxassay_010508|dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, lens, medulla, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|616015
RG-div2	NUDCD2	0.413784756	1.98E-08	Unclassified	BrainSpLMD|134492;Eurexp|euxassay_006946|embryo	
RG-div2	KIAA1524	0.794357076	1.99E-08			
RG-div2	F2R	0.593992499	2.01E-08	G protein coupled receptor	BrainSpLMD|2149;Eurexp|euxassay_009165|mesenchyme	OMIM|187930
RG-div2	KIF21A	0.359553454	2.02E-08	Motor protein	BrainSpLMD|55605;Eurexp|euxassay_012905|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventricular layer	OMIM|608283;HPO|55605|Autosomal dominant inheritance, Bilateral ptosis, Compensatory chin elevation, Congenital fibrosis of extraocular muscles, Esotropia, Exotropia, Levator palpebrae superioris atrophy, Restrictive external ophthalmoplegia, Superior rectus atrophy
RG-div2	MCL1	0.30094044	2.06E-08	Chaperone	BrainSpLMD|4170	OMIM|159552
RG-div2	SNORD14E	0.321483804	2.10E-08			
RG-div2	KIAA1217	1.64980047	2.13E-08	Unclassified	BrainSpLMD|56243;Eurexp|euxassay_002039|ventricular layer	OMIM|617367
RG-div2	DPH3	0.559168693	2.15E-08	Unclassified	BrainSpLMD|285381	OMIM|608959
RG-div2	H1F0	0.347422585	2.19E-08	DNA binding protein	BrainSpLMD|3005;Eurexp|euxassay_006503|embryo	OMIM|142708
RG-div2	SLC35D1	0.610133602	2.21E-08	Membrane transport protein	BrainSpLMD|23169	OMIM|610804;HPO|23169|Abnormality of the fingernails, Advanced ossification of carpal bones, Advanced tarsal ossification, Anterior rib cupping, Autosomal recessive inheritance, Brachydactyly, Cleft palate, Cryptorchidism, Disproportionate short-limb short stature, Dolichocephaly, Dumbbell-shaped long bone, Fibular hypoplasia, Flat acetabular roof, Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic toenails, Hypoplastic vertebral bodies, Increased fibular diameter, Lateral clavicle hook, Lymphedema, Macrocephaly, Malar flattening, Metaphyseal irregularity, Micromelia, Midface retrusion, Narrow chest, Ovoid vertebral bodies, Polyhydramnios, Short neck, Short ribs, Snail-like ilia, Stillbirth
RG-div2	SPAG16	0.575061503	2.22E-08	Unclassified	BrainSpLMD|79582	OMIM|612173
RG-div2	OAZ1	0.33241979	2.24E-08	Unclassified	BrainSpLMD|4946	OMIM|601579
RG-div2	SIVA1	1.015530577	2.28E-08	Unclassified;Cell surface receptor	BrainSpLMD|10572	OMIM|605567
RG-div2	PAWR	0.887279875	2.32E-08	Transcription regulatory protein	BrainSpLMD|5074;Eurexp|euxassay_014184|bladder, floor plate, floorplate, left lung, neural retina, olfactory, right lung, submandibular gland primordium, urethra, ventricular layer;BrainSpMouseDev|77498	OMIM|601936
RG-div2	JADE1	0.279287371	2.36E-08	Unclassified	BrainSpLMD|79960	OMIM|610514
RG-div2	UBXN2A	0.843100008	2.44E-08	Unclassified	BrainSpLMD|165324	
RG-div2	IFNAR1	0.885365466	2.46E-08	Cytokine receptor	BrainSpLMD|3454;Eurexp|euxassay_010150|left, right	OMIM|107450
RG-div2	KIF5C	0.413409903	2.51E-08	Motor protein	BrainSpLMD|3800;Eurexp|euxassay_015929|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, olfactory, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|16347	SFARI||Autism, No category;OMIM|604593;HPO|3800|Absent speech, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Congenital onset, Cortical dysplasia, Fetal akinesia sequence, Global developmental delay, Hypoplasia of the corpus callosum, Intrauterine growth retardation, Microcephaly, Polymicrogyria, Seizures, Spastic tetraplegia, Variable expressivity
RG-div2	TUBB4B	0.581133197	2.54E-08	Structural protein	BrainSpLMD|10383	OMIM|602660
RG-div2	CNKSR3	0.776861159	2.54E-08	Unclassified	BrainSpLMD|154043	OMIM|617476
RG-div2	SREBF2	0.251901376	2.70E-08	Transcription factor	BrainSpLMD|6721;BrainSpMouseDev|20550	OMIM|600481
RG-div2	SAE1	0.666933472	2.70E-08	Enzyme: Ligase	BrainSpLMD|10055;Eurexp|euxassay_005976|embryo	SFARI||Autism, No category;OMIM|613294
RG-div2	PIM1	1.129502603	2.77E-08	Serine/threonine kinase	BrainSpLMD|5292	OMIM|164960;COSMIC||NHL
RG-div2	OTUD7B	0.70666456	2.79E-08	Ubiquitin proteasome system protein	BrainSpLMD|56957	OMIM|611748
RG-div2	TCEA2	0.44091981	2.81E-08	Transcription factor	BrainSpLMD|6919	OMIM|604784
RG-div2	NAP1L4	0.310531675	2.88E-08	Chaperone	BrainSpLMD|4676	OMIM|601651
RG-div2	IVD	1.006377736	2.88E-08	Enzyme: Dehydrogenase	BrainSpLMD|3712	OMIM|607036;HPO|3712|Autosomal recessive inheritance, Bone marrow hypocellularity, Coma, Dehydration, Global developmental delay, Hyperglycinuria, Ketoacidosis, Lethargy, Leukopenia, Metabolic acidosis, Pancytopenia, Seizures, Thrombocytopenia, Vomiting
RG-div2	CTH	0.684512202	3.01E-08	Cysteine protease	BrainSpLMD|1491;Eurexp|euxassay_000513|axial skeleton, cranium, head mesenchyme, incisor, oesophagus, otic capsule, turbinate bones	OMIM|607657;HPO|1491|Autosomal recessive inheritance, Cystathioninuria
RG-div2	CALU	0.531283475	3.03E-08	Calcium binding protein	BrainSpLMD|813	OMIM|603420
RG-div2	ASNA1	1.020596756	3.19E-08	ATPase	BrainSpLMD|439;Eurexp|euxassay_005141|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lung, metanephros, molar, olfactory, retina, spinal cord, submandibular gland primordium, thoracic, thymus primordium, tongue, trachea, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|601913
RG-div2	PSRC1	0.773677847	3.36E-08	Unclassified	BrainSpLMD|84722;Eurexp|euxassay_003651|left lung, marginal layer, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|613126
RG-div2	TMEM18	0.553537343	3.38E-08	Integral membrane protein	BrainSpLMD|129787;Eurexp|euxassay_003177|lower jaw, submandibular gland primordium	OMIM|613220
RG-div2	GATAD2A	0.815554341	3.39E-08	Transcription regulatory protein	BrainSpLMD|54815;BrainSpMouseDev|87820	OMIM|614997
RG-div2	SPCS2	0.430789228	3.44E-08	Protease		
RG-div2	IFT81	0.491617231	3.44E-08	Unclassified	BrainSpLMD|28981	OMIM|605489
RG-div2	CISD1	0.33204859	3.58E-08	Unclassified	BrainSpLMD|55847;Eurexp|euxassay_003163|chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, lobe, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611932
RG-div2	PRDX6	0.423410316	3.58E-08	Enzyme: Peroxidase	BrainSpLMD|9588;Eurexp|euxassay_018727|floor plate, floorplate, hepatic duct, left lung, liver, mandible, mantle layer, marginal layer, maxilla, metanephros, midgut, olfactory, pancreas, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|602316
RG-div2	PARP14	1.271479333	3.63E-08	Unclassified	BrainSpLMD|54625	OMIM|610028
RG-div2	ATXN7	0.675111205	3.66E-08	Unclassified	BrainSpLMD|6314;Eurexp|euxassay_007505|alimentary system, cardiovascular system, cavities and their linings, ganglion, gland, integumental system, limb, mantle layer, mesenchyme, nerve, peripheral nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system	SFARI||Autism, 5 - Hypothesized but untested;OMIM|607640;HPO|6314|Abnormality of extrapyramidal motor function, Autosomal dominant inheritance, Babinski sign, Chorea, Dysmetria, Dysphagia, Genetic anticipation with paternal anticipation bias, Macular degeneration, Olivopontocerebellar atrophy, Orofacial dyskinesia, Pigmentary retinal degeneration, Progressive visual loss, Slow saccadic eye movements, Spasticity, Supranuclear ophthalmoplegia
RG-div2	CRKL	0.473275591	3.70E-08	Adapter molecule	BrainSpLMD|1399	OMIM|602007;HPO|1399|Abnormality of earlobe, Absent fingernail, Absent toenail, Clinodactyly of the 5th finger, Deeply set eye, Global developmental delay, Highly arched eyebrow, Intellectual disability, Intrauterine growth retardation, Language impairment, Microcephaly, Neoplasm, Pes planus, Pointed chin, Premature birth, Short stature, Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Underdeveloped nasal alae
RG-div2	NNT.AS1	0.291396264	3.77E-08			
RG-div2	PDIA4	0.484415399	3.84E-08	Chaperone	BrainSpLMD|9601;Eurexp|euxassay_000803|basal plate, telencephalon, ventricular layer	
RG-div2	ZCCHC9	0.804405286	3.88E-08	Unclassified	BrainSpLMD|84240	
RG-div2	HADH	1.073292384	3.91E-08	Enzyme: Dehydrogenase	BrainSpLMD|3033;Eurexp|euxassay_018543|adrenal gland, liver, lung, midgut, orbito-sphenoid, stomach, sublingual gland primordium, testis, thymus primordium, thyroid, trachea, turbinate, ventricular layer	OMIM|601609;HPO|3033|Abnormality of acetylcarnitine metabolism, Autosomal recessive inheritance, Confusion, Decreased activity of 3-hydroxyacyl-CoA dehydrogenase, Diarrhea, Dicarboxylic aciduria, Dilated cardiomyopathy, Elevated hepatic transaminases, Fasting hyperinsulinemia, Feeding difficulties in infancy, Fulminant hepatic failure, Growth delay, Hepatic necrosis, Hepatic steatosis, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, Hypoglycemic coma, Hypoglycemic encephalopathy, Hypoglycemic seizures, Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level, Intellectual disability, Intrauterine growth retardation, Lethargy, Muscular hypotonia, Myoglobinuria, Neonatal hypoglycemia, Neonatal hypotonia, Phenotypic variability, Proportionate short stature, Vomiting
RG-div2	SLC44A2	0.558553153	3.99E-08	Integral membrane protein	BrainSpLMD|57153	OMIM|606106
RG-div2	SRP9	0.250423934	3.99E-08	RNA binding protein		OMIM|600707
RG-div2	PRDX5	0.314866945	4.31E-08	Enzyme: Oxidoreductase	BrainSpLMD|25824	OMIM|606583
RG-div2	RNF213	0.365224258	4.38E-08	Unclassified	BrainSpLMD|57674	OMIM|613768;COSMIC||ALCL;HPO|57674|Abnormality of the cerebral vasculature, Intellectual disability, Seizures, Telangiectasia, Ventriculomegaly
RG-div2	TFDP2	0.489968717	4.50E-08	Transcription factor	BrainSpLMD|7029;Eurexp|euxassay_009223|liver, marginal layer, nasal capsule, neural retina, olfactory, ventricular layer;BrainSpMouseDev|84320	OMIM|602160
RG-div2	FADS2	0.438816346	4.63E-08	Enzyme: Oxidase	BrainSpLMD|9415	OMIM|606149
RG-div2	NBPF8	0.446062818	4.67E-08			OMIM|613998
RG-div2	CALR	0.293104979	4.70E-08	Chaperone	BrainSpLMD|811	OMIM|109091;COSMIC||MPN, MDS;HPO|811|Abnormal platelet morphology, Abnormality of the skeletal system, Acrocyanosis, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Chest pain, Hypertension, Impaired platelet aggregation, Increased megakaryocyte count, Myelofibrosis, Myeloproliferative disorder, Myocardial infarction, Paresthesia, Prolonged bleeding time, Somatic mutation, Splenomegaly, Thrombocytosis, Transient ischemic attack, Venous thrombosis
RG-div2	PLOD2	0.441234059	4.71E-08	Enzyme: Hydroxylase	BrainSpLMD|5352;Eurexp|euxassay_008722|axial skeleton, basisphenoid bone, clavicle, exoccipital bone, mesenchyme, nasal septum, otic capsule, petrous part, rib, sternum, tongue, trachea, turbinate	OMIM|601865;HPO|5352|Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Elbow flexion contracture, Femoral bowing, Flexion contracture, Hydroxyprolinuria, Increased susceptibility to fractures, Inguinal hernia, Joint stiffness, Knee flexion contracture, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes equinovarus, Triangular face, Wormian bones
RG-div2	TMEM107	0.939002379	5.15E-08	Unclassified	BrainSpLMD|84314;Eurexp|euxassay_005337|choroid plexus, lateral recess, olfactory, pharynx, respiratory	OMIM|616183;HPO|84314|Aplasia/Hypoplasia of the iris, Cataract, Chorioretinal abnormality, Cleft palate, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Encephalocele, Full cheeks, Hypertelorism, Lobar holoprosencephaly, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Oligohydramnios, Optic atrophy, Postaxial foot polydactyly, Postaxial hand polydactyly, Sclerocornea, Sloping forehead, Talipes
RG-div2	OAT	0.734703012	5.15E-08	Enzyme: Aminotransferase	BrainSpLMD|4942	OMIM|613349;HPO|4942|Abnormality of metabolism/homeostasis, Autosomal recessive inheritance, Blindness, Chorioretinal atrophy, EMG abnormality, Myopia, Nyctalopia, Posterior subcapsular cataract, Proximal muscle weakness
RG-div2	TAF1B	0.655414618	5.28E-08	Transcription factor	BrainSpLMD|9014	OMIM|604904
RG-div2	FAIM	0.435259724	5.39E-08	Unclassified	BrainSpLMD|55179	OMIM|617535
RG-div2	MMAB	0.909999899	5.43E-08	Enzyme: Adenosyltransferase	BrainSpLMD|326625	OMIM|607568;HPO|326625|Anemia, Autosomal recessive inheritance, Coma, Decreased adenosylcobalamin, Decreased methylmalonyl-CoA mutase activity, Dehydration, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Ketonuria, Ketosis, Lethargy, Metabolic acidosis, Methylmalonic acidemia, Methylmalonic aciduria, Neonatal onset, Neutropenia, Pancytopenia, Respiratory distress, Thrombocytopenia, Vomiting
RG-div2	KIF20B	0.488651311	5.52E-08	Cell cycle control protein	BrainSpLMD|9585	OMIM|605498
RG-div2	SELK	0.636440589	5.69E-08			
RG-div2	DNA2	0.57410758	5.70E-08	DNA helicase		OMIM|601810;HPO|1763|Autosomal dominant inheritance, Autosomal recessive inheritance, Convex nasal ridge, Ectopic kidney, Elevated serum creatine phosphokinase, Exercise intolerance, Exertional dyspnea, Facial palsy, Gait disturbance, Generalized amyotrophy, Global developmental delay, Gowers sign, Intellectual disability, Kyphoscoliosis, Limb-girdle muscle weakness, Microcephaly, Micrognathia, Muscle cramps, Myalgia, Progressive external ophthalmoplegia, Ptosis, Short stature, Slender build, Slow progression, Spinal cord compression
RG-div2	IARS	0.689766789	5.81E-08	Enzyme: Ligase	BrainSpLMD|3376;Eurexp|euxassay_001939|Meckel's cartilage, cervical, cervico-thoracic, cortex, dorsal root ganglion, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	OMIM|600709;HPO|3376|Autosomal recessive inheritance, Congenital onset, Failure to thrive, Generalized hypotonia, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Microcephaly, Postnatal growth retardation, Variable expressivity
RG-div2	BMP2K	1.25955395	5.95E-08	Serine/threonine kinase	BrainSpLMD|55589	OMIM|617648
RG-div2	DCAF8	0.711657114	6.09E-08	Unclassified	BrainSpLMD|50717	OMIM|615820;HPO|50717|Areflexia, Autosomal dominant inheritance, Cardiomyopathy, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, EMG: chronic denervation signs, Hammertoe, Hyporeflexia, Impaired distal tactile sensation, Impaired distal vibration sensation, Onion bulb formation, Peripheral axonal neuropathy, Pes cavus, Steppage gait
RG-div2	BICD1	0.270070941	6.15E-08	Transport/cargo protein	BrainSpLMD|636;Eurexp|euxassay_001764|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|11907	OMIM|602204
RG-div2	CTPS1	0.874683489	6.16E-08	Enzyme: Ligase	BrainSpLMD|1503	OMIM|123860;HPO|1503|Autosomal recessive inheritance, Defective T cell proliferation, Immunodeficiency, Immunoglobulin IgG2 deficiency, Lymphopenia, Severe viral infections
RG-div2	FLNA	0.926678572	6.66E-08	Anchor protein;Structural protein	BrainSpLMD|2316	OMIM|300017;COSMIC||phyllodes tumour of the breast;HPO|2316|Abdominal distention, Abnormal bleeding, Abnormal facial shape, Abnormal foot bone ossification, Abnormal form of the vertebral bodies, Abnormal hand bone ossification, Abnormal vertebral segmentation and fusion, Abnormality of dental morphology, Abnormality of metabolism/homeostasis, Abnormality of neuronal migration, Abnormality of oral frenula, Abnormality of skin pigmentation, Abnormality of the cardiac septa, Abnormality of the coagulation cascade, Abnormality of the fifth metatarsal bone, Abnormality of the heart valves, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the pinna, Abnormality of the ribs, Absent frontal sinuses, Absent/hypoplastic paranasal sinuses, Accelerated skeletal maturation, Accessory carpal bones, Ankle contracture, Anodontia, Antegonial notching of mandible, Anterior concavity of thoracic vertebrae, Anteriorly placed odontoid process, Aortic regurgitation, Arachnodactyly, Bicuspid aortic valve, Bipartite calcaneus, Bowing of the long bones, Brachydactyly, Broad distal phalanx of the thumb, Broad face, Broad forehead, Broad hallux, Broad phalanges of the hand, Broad thumb, Bulbous tips of toes, Camptodactyly of finger, Camptodactyly of toe, Capitate-hamate fusion, Cerebellar hypoplasia, Cleft palate, Coarse facial features, Coarse hair, Coat hanger sign of ribs, Cognitive impairment, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Congenital hip dislocation, Congestive heart failure, Constipation, Cor pulmonale, Coxa valga, Craniofacial hyperostosis, Cryptorchidism, Delayed closure of the anterior fontanelle, Delayed cranial suture closure, Delayed eruption of teeth, Delayed speech and language development, Dental malocclusion, Depressed nasal bridge, Dislocated radial head, Downslanted palpebral fissures, Elbow dislocation, Elbow flexion contracture, Failure to thrive, Feeding difficulties in infancy, Femoral bowing, Fibroma, Fibular aplasia, Flared iliac wings, Flared metaphysis, Flat face, Focal seizures, Frontal bossing, Frontal hirsutism, Fused cervical vertebrae, Gait disturbance, Gastroesophageal reflux, Genu valgum, Global developmental delay, Glossoptosis, Hearing impairment, Hernia, Heterotopia, High palate, Hip dislocation, Hirsutism, Hoarse voice, Hydrocephalus, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplasia of the musculature, Hypoplastic frontal sinuses, Hypoplastic ilia, Hypoplastic scapulae, Hypospadias, Hypotrichosis, Increased bone mineral density, Increased density of long bone diaphyses, Increased mean platelet volume, Increased size of the mandible, Infantile onset, Intellectual disability, Intellectual disability, mild, Intestinal hypoplasia, Intestinal malrotation, Intestinal pseudo-obstruction, Iris coloboma, Irregular metacarpals, Joint hypermobility, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Large fontanelles, Large foramen magnum, Large forehead, Lateral femoral bowing, Limitation of joint mobility, Limited elbow extension, Limited knee flexion, Lipoatrophy, Localized skin lesion, Long fingers, Long foot, Long metacarpals, Long neck, Long phalanx of finger, Low-set ears, Macrotia, Malar flattening, Micrognathia, Midface retrusion, Misalignment of teeth, Mitral regurgitation, Mitral valve prolapse, Motor delay, Multiple impacted teeth, Multiple joint contractures, Nail dysplasia, Nail dystrophy, Narrow chest, Narrow mouth, Neonatal hypotonia, Nonossified fifth metatarsal, Obtuse angle of mandible, Oligodontia, Omphalocele, Osteolytic defects of the phalanges of the hand, Overlapping fingers, Partial fusion of carpals, Partial fusion of tarsals, Patent ductus arteriosus, Pectus excavatum, Periventricular gray matter heterotopia, Persistence of primary teeth, Pes planus, Pierre-Robin sequence, Platyspondyly, Pointed chin, Postaxial hand polydactyly, Posterior vertebral hypoplasia, Posteriorly rotated ears, Postnatal growth retardation, Prominent forehead, Prominent occiput, Prominent supraorbital ridges, Proptosis, Proximal placement of thumb, Ptosis, Pulmonary arterial hypertension, Pulmonary hypoplasia, Pyloric stenosis, Radial bowing, Radial deviation of the 2nd finger, Recurrent otitis media, Recurrent respiratory infections, Reduced number of teeth, Respiratory failure, Rocker bottom foot, Rudimentary fibula, Sandal gap, Scapular winging, Sclerosis of skull base, Scoliosis, Seizures, Selective tooth agenesis, Sensorineural hearing impairment, Short 3rd metacarpal, Short 4th metacarpal, Short 5th metacarpal, Short chin, Short chordae tendineae of the mitral valve, Short chordae tendineae of the tricuspid valve, Short clavicles, Short distal phalanx of finger, Short distal phalanx of hallux, Short distal phalanx of the thumb, Short hallux, Short humerus, Short metacarpal, Short metatarsal, Short nose, Short palm, Short ribs, Short stature, Short thumb, Short toe, Skeletal dysplasia, Skeletal muscle atrophy, Small face, Smooth philtrum, Spondylolysis, Stillbirth, Strabismus, Stridor, Stroke, Synostosis of carpal bones, Talipes equinovarus, Thick skull base, Thickened calvaria, Thin skin, Thrombocytopenia, Tibial bowing, Toe clinodactyly, Toe syndactyly, Tricuspid regurgitation, Tricuspid valve prolapse, Ulnar bowing, Ulnar deviation of finger, Underdeveloped superior crus of antihelix, Undulate clavicles, Ureteral obstruction, Ureteral stenosis, Vertical clivus, Vomiting, Wide anterior fontanel, Wide nasal bridge, Wormian bones, Wrist flexion contracture, X-linked dominant inheritance, X-linked inheritance, X-linked recessive inheritance
RG-div2	INHBB	0.900881895	6.92E-08	Ligand	BrainSpLMD|3625;BrainSpMouseDev|16097	OMIM|147390
RG-div2	GRB14	0.467382659	7.16E-08	Adapter molecule	BrainSpLMD|2888;Eurexp|euxassay_012213|dorsal root ganglion, mantle layer, nucleus pulposus, trigeminal V	OMIM|601524
RG-div2	CDC73	0.705851808	7.50E-08	Unclassified	BrainSpLMD|79577	OMIM|607393;COSMIC||parathyroid adenoma, parathyroid adenoma, multiple ossifying jaw fibroma;HPO|79577|Autosomal dominant inheritance, Chondrocalcinosis, Dysphagia, Elevated circulating parathyroid hormone level, Fatigue, Fibroma, Generalized osteoporosis, Hoarse voice, Hypercalcemia, Hypercalciuria, Hyperparathyroidism, Hyperphosphaturia, Hypophosphatemia, Infantile hypercalcemia, Nephrocalcinosis, Nephrolithiasis, Osteopenia, Osteoporosis, Parathyroid adenoma, Parathyroid carcinoma, Polydipsia, Primary hyperparathyroidism, Shortened QT interval, Somatic mutation, Uterine leiomyoma, Weight loss
RG-div2	RP11.553L6.5	0.525506625	7.61E-08			
RG-div2	SRSF7	0.344320103	7.68E-08	RNA binding protein	BrainSpLMD|6432	OMIM|600572
RG-div2	OXR1	0.611855441	8.25E-08	Unclassified	BrainSpLMD|55074	OMIM|605609
RG-div2	POLA1	0.678642594	8.31E-08	DNA polymerase	BrainSpLMD|5422	OMIM|312040;HPO|5422|Abnormality of chromosome stability, Abnormality of metabolism/homeostasis, Amyloidosis, Broad eyebrow, Colitis, Corneal scarring, Cryptorchidism, Diarrhea, Failure to thrive in infancy, Generalized reticulate brown pigmentation, Global developmental delay, Hearing impairment, Hemiplegia, Hyperkeratosis, Hypohidrosis, Hypospadias, Inguinal hernia, Intellectual disability, Leukemia, Neoplasm, Opacification of the corneal stroma, Photophobia, Recurrent infection of the gastrointestinal tract, Recurrent pneumonia, Seizures, Spasticity, Urethral stricture, Visual impairment, Visual loss, X-linked inheritance, X-linked recessive inheritance
RG-div2	GBAS	0.513681833	8.56E-08			
RG-div2	SNHG16	0.626794938	8.57E-08			
RG-div2	KPNA2	0.434693751	8.93E-08	Transport/cargo protein	BrainSpLMD|3838	OMIM|600685
RG-div2	CACUL1	0.366419647	9.10E-08	Unclassified	BrainSpLMD|143384	
RG-div2	RFC5	1.284074794	9.16E-08	DNA binding protein	BrainSpLMD|5985	OMIM|600407
RG-div2	TFRC	0.317720238	9.41E-08	Membrane transport protein	BrainSpLMD|7037;Eurexp|euxassay_005557|left, left lung, meninges, midgut, right, right lung, stomach, submandibular gland primordium	OMIM|190010;COSMIC||NHL;HPO|7037|Autosomal recessive inheritance, Decreased antibody level in blood, Neutropenia
RG-div2	LIX1L	0.416875862	9.49E-08	Unclassified	BrainSpLMD|128077	
RG-div2	OGFRL1	1.077925647	9.50E-08	Unclassified	BrainSpLMD|79627;Eurexp|euxassay_010875|dorsal root ganglion, mantle layer, trigeminal V	
RG-div2	PFKL	1.214301023	9.66E-08	Enzyme: Phosphotransferase	BrainSpLMD|5211;Eurexp|euxassay_017900|axial skeleton, basioccipital bone, clavicle, hindgut, incisor, left ventricle, loop, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pituitary, rectum, rib, right ventricle, stomach, submandibular gland primordium, temporal bone, thymus primordium, trachea, vertebral axis muscle system, vibrissa	OMIM|171860
RG-div2	SFXN1	0.451686353	9.66E-08	Transport/cargo protein	BrainSpLMD|94081;Eurexp|euxassay_006928|embryo	OMIM|615569
RG-div2	DCP2	0.304993411	9.70E-08	RNA binding protein	BrainSpLMD|167227	OMIM|609844
RG-div2	STK39	0.43491264	9.73E-08	Serine/threonine kinase	BrainSpLMD|27347	SFARI||Autism, 4 - Minimal evidence;OMIM|607648
RG-div2	CDKN3	0.671500001	9.80E-08	Dual specificity phosphatase	BrainSpLMD|1033;Eurexp|euxassay_014422|axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, orbito-sphenoid, pelvic girdle, temporal bone, tibia, turbinate, vault of skull	OMIM|123832
RG-div2	CASP8AP2	0.31921281	9.89E-08	Adapter molecule	BrainSpLMD|9994;Eurexp|euxassay_002768|calyces, incisor, skeleton, submandibular gland primordium, ventricular layer, vibrissa	OMIM|606880
RG-div2	OSTC	0.317173204	1.08E-07	Integral membrane protein	BrainSpLMD|58505;Eurexp|euxassay_003969|Meckel's cartilage, clavicle, cranium, rib, turbinate	
RG-div2	RBMXL1	0.306773484	1.08E-07	-		
RG-div2	SHFM1	0.260620349	1.09E-07			
RG-div2	DTYMK	0.304464651	1.10E-07	Enzyme: Phosphotransferase	Eurexp|euxassay_003137|chondrocranium, incisor, molar, pancreas, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|188345
RG-div2	LINC00925	0.342483967	1.12E-07			
RG-div2	ANAPC11	0.330659818	1.12E-07	Enzyme: Ligase	BrainSpLMD|51529	OMIM|614534
RG-div2	MEA1	0.518627343	1.18E-07	Unclassified	BrainSpLMD|4201	OMIM|143170
RG-div2	SHMT2	0.834211828	1.20E-07	Enzyme: Methyltransferase	BrainSpLMD|6472;Eurexp|euxassay_001650|axial skeleton, neural retina, nucleus pulposus, orbito-sphenoid, pituitary, submandibular gland primordium, vibrissa	OMIM|138450
RG-div2	CCT5	0.328147933	1.24E-07	Chaperone	BrainSpLMD|22948	OMIM|610150;HPO|22948|Abnormality of the foot, Acral ulceration and osteomyelitis leading to autoamputation of digits, Atrophy of the spinal cord, Autosomal recessive inheritance, Babinski sign, Clonus, Decreased circulating low-density lipoprotein levels, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment, Distal sensory loss of all modalities, Hypocholesterolemia, Infantile onset, Juvenile onset, Peripheral axonal neuropathy, Spastic gait, Spastic paraplegia
RG-div2	KLF3	0.489885123	1.24E-07	Transcription regulatory protein	BrainSpLMD|51274	OMIM|609392
RG-div2	ECT2	0.954085468	1.24E-07	Guanine nucleotide exchange factor	BrainSpLMD|1894;Eurexp|euxassay_018792|marginal layer, ventricular layer	OMIM|600586
RG-div2	ZBTB21	0.262861186	1.25E-07	Transcription regulatory protein	BrainSpLMD|49854	OMIM|616485
RG-div2	PAAF1	0.289345953	1.25E-07	Ubiquitin proteasome system protein	BrainSpLMD|80227	
RG-div2	FN3KRP	0.797529907	1.26E-07	Enzyme: Phosphotransferase	BrainSpLMD|79672;Eurexp|euxassay_012737|liver	OMIM|611683
RG-div2	CASP3	0.396288975	1.27E-07	Cysteine protease	BrainSpLMD|836;Eurexp|euxassay_018739|mantle layer, olfactory, vomeronasal organ;BrainSpMouseDev|12152	OMIM|600636
RG-div2	COPZ1	0.565032999	1.31E-07	Transport/cargo protein	BrainSpLMD|22818	OMIM|615472
RG-div2	LTA4H	0.694014406	1.32E-07	Enzyme: Hydrolase	BrainSpLMD|4048	OMIM|151570
RG-div2	RP11.159G9.5	0.704734745	1.33E-07			
RG-div2	RPL39L	0.55805988	1.36E-07	Ribosomal subunit	BrainSpLMD|116832	OMIM|607547
RG-div2	MOB1A	0.413422474	1.36E-07	Unclassified	BrainSpLMD|55233	OMIM|609281
RG-div2	PPWD1	0.429494742	1.39E-07	Unclassified	BrainSpLMD|23398	
RG-div2	CHD1L	0.99719599	1.42E-07	DNA binding protein	BrainSpLMD|9557	OMIM|613039
RG-div2	NME4	0.634956129	1.48E-07	Enzyme: Phosphotransferase	BrainSpLMD|4833	OMIM|601818
RG-div2	CASC10	0.996419855	1.50E-07	Unclassified		
RG-div2	FERMT2	0.314044998	1.53E-07	Cytoskeletal protein	BrainSpLMD|10979;Eurexp|euxassay_012610|hindgut, metanephros, midgut, stomach, ventricular layer, wall	OMIM|607746
RG-div2	HAUS2	1.234291945	1.60E-07	Unclassified	BrainSpLMD|55142	OMIM|613429
RG-div2	NDC1	0.814422263	1.65E-07	Anchor protein	BrainSpLMD|55706	OMIM|610115
RG-div2	QTRTD1	1.047163997	1.65E-07			
RG-div2	POLR2A	0.493598915	1.65E-07	RNA polymerase	BrainSpLMD|5430	OMIM|180660
RG-div2	APEH	1.288434759	1.73E-07	Enzyme: Hydrolase	BrainSpLMD|327;Eurexp|euxassay_002649|dorsal root ganglion, lobe	OMIM|102645
RG-div2	PA2G4	0.344322491	1.73E-07	Transcription regulatory protein	BrainSpLMD|5036	OMIM|602145
RG-div2	ATXN2	0.371442495	1.74E-07	RNA binding protein	BrainSpLMD|6311;Eurexp|euxassay_013424|dorsal root ganglion, facial VII, glossopharyngeal IX, lens, neural retina, submandibular gland primordium, trigeminal V, ventral grey horn	OMIM|601517;HPO|6311|Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Bradykinesia, Dementia, Depressivity, Dilated fourth ventricle, Distal amyotrophy, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Dysphagia, Dyspnea, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Gaze-evoked nystagmus, Generalized hypotonia, Generalized muscle weakness, Genetic anticipation, Hyporeflexia, Impaired horizontal smooth pursuit, Impaired vibratory sensation, Limb ataxia, Muscle cramps, Myoclonus, Neurodegeneration, Oculomotor apraxia, Olivopontocerebellar atrophy, Ophthalmoplegia, Pain, Paralysis, Postural instability, Postural tremor, Progressive cerebellar ataxia, Respiratory failure, Rigidity, Rod-cone dystrophy, Skeletal muscle atrophy, Slow saccadic eye movements, Spasticity, Spinocerebellar tract degeneration, Urinary bladder sphincter dysfunction, Xerostomia
RG-div2	MGME1	0.923501807	1.86E-07	Unclassified	BrainSpLMD|92667	OMIM|615076;HPO|92667|Autosomal recessive inheritance, Dysphonia, Dyspnea, Easy fatigability, Elevated serum creatine phosphokinase, Exercise intolerance, Facial palsy, Generalized amyotrophy, Hypergonadotropic hypogonadism, Hyporeflexia, Kyphosis, Nasal speech, Progressive, Progressive external ophthalmoplegia, Proximal amyotrophy, Ptosis, Recurrent infections, Respiratory insufficiency, Spinal deformities, Spinal rigidity
RG-div2	MRPL18	0.393261048	1.91E-07	Ribosomal subunit	BrainSpLMD|29074	OMIM|611831
RG-div2	TXNDC12	0.378279308	1.92E-07	Enzyme: Reductase	BrainSpLMD|51060	OMIM|609448
RG-div2	RPA3	0.524452524	1.96E-07	DNA binding protein	BrainSpLMD|6119	OMIM|179837
RG-div2	TFAM	0.711999638	2.08E-07	Transcription factor	BrainSpLMD|7019;Eurexp|euxassay_002182|thymus primordium, ventricular layer;BrainSpMouseDev|21539	OMIM|600438;HPO|7019|Abnormality of the coagulation cascade, Ascites, Autosomal recessive inheritance, Cirrhosis, Congenital onset, Death in infancy, Elevated hepatic transaminases, Failure to thrive, Hepatic failure, Hypoglycemia, Intrauterine growth retardation, Jaundice, Microvesicular hepatic steatosis, Progressive
RG-div2	IGF2BP3	0.480967921	2.10E-07	Translation regulatory protein	BrainSpLMD|10643;Eurexp|euxassay_006316|embryo	OMIM|608259
RG-div2	SLC25A5	0.372706926	2.11E-07	Integral membrane protein		OMIM|300150
RG-div2	PNMA2	0.518311569	2.27E-07	Unclassified	BrainSpLMD|10687;Eurexp|euxassay_005514|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|603970
RG-div2	ZADH2	0.507555858	2.27E-07	Enzyme: Dehydrogenase	BrainSpLMD|284273	
RG-div2	HIST1H3B	0.311718389	2.28E-07	DNA binding protein	BrainSpLMD|8358	OMIM|602819;COSMIC||glioma
RG-div2	ABCF1	0.436451964	2.31E-07	Translation regulatory protein	BrainSpLMD|23;Eurexp|euxassay_007589|embryo	OMIM|603429
RG-div2	IFI6	0.40408549	2.34E-07	Unclassified	BrainSpLMD|2537	OMIM|147572
RG-div2	XPO1	0.330969282	2.36E-07	Transport/cargo protein	BrainSpLMD|7514	SFARI||Autism, 4 - Minimal evidence;OMIM|602559;COSMIC||CLL
RG-div2	FAM136A	0.68517581	2.40E-07	Transcription regulatory protein	BrainSpLMD|84908;Eurexp|euxassay_003220|Meckel's cartilage, adrenal gland, axial muscle, cortex, dorsal root ganglion, glomeruli, hindgut, incisor, left lung, midgut, orbito-sphenoid, pancreas, rectum, right lung, stomach, submandibular gland primordium, thymus primordium, trachea, vibrissa	OMIM|616275
RG-div2	PNKD	0.812892586	2.46E-07	Cytoskeletal associated protein	BrainSpLMD|25953	OMIM|609023;HPO|25953|Autosomal dominant inheritance, Childhood onset, Dysarthria, Dysphagia, Facial grimacing, Infantile onset, Myokymia, Paroxysmal choreoathetosis, Paroxysmal dystonia, Torticollis
RG-div2	HDLBP	0.500944567	2.46E-07	Transport/cargo protein;RNA binding protein	BrainSpLMD|3069	OMIM|142695
RG-div2	ERLIN2	0.812424967	2.49E-07	Unclassified	BrainSpLMD|11160	OMIM|611605;HPO|11160|Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Absent speech, Autosomal recessive inheritance, Babinski sign, Dysphagia, Gait disturbance, Gait imbalance, High palate, Hyperreflexia, Kyphosis, Loss of speech, Lower limb muscle weakness, Muscle weakness, Pes cavus, Progressive, Pseudobulbar behavioral symptoms, Scoliosis, Skeletal muscle atrophy, Slow progression, Spastic dysarthria, Spastic gait, Spastic paraplegia, Spastic tetraparesis, Strabismus, Upper limb spasticity
RG-div2	UFL1	0.481797979	2.51E-07	Unclassified	BrainSpLMD|23376	OMIM|613372
RG-div2	VPS33A	0.948528889	2.52E-07	Transport/cargo protein	BrainSpLMD|65082;Eurexp|euxassay_003122|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610034;HPO|65082|Abnormality of the foot, Acetabular dysplasia, Anemia, Autosomal recessive inheritance, Coarse facial features, Coarse hair, Dysostosis multiplex, Epicanthus, Flared iliac wings, Flexion contracture, Focal segmental glomerulosclerosis, Global developmental delay, Hepatomegaly, Hirsutism, Hypertrophic cardiomyopathy, Infantile onset, J-shaped sella turcica, Long eyelashes, Macroglossia, Macrovesicular hepatic steatosis, Optic atrophy, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Prominent forehead, Proteinuria, Recurrent respiratory infections, Respiratory distress, Short neck, Splenomegaly, Synophrys, Telecanthus, Thick vermilion border, Thrombocytopenia, Tubular atrophy, Wide nasal bridge, Wide nose
RG-div2	MRPL51	0.442431182	2.56E-07	Ribosomal subunit	BrainSpLMD|51258	OMIM|611855
RG-div2	KIF2C	0.951121417	2.58E-07	Motor protein	BrainSpLMD|11004;Eurexp|euxassay_003601|4th ventricle, bladder, forebrain, hindbrain, hindlimb, incisor, limb, liver, lung, metanephros, midbrain, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pancreas, penis, pharyngo-tympanic tube, respiratory, retina, spinal cord, submandibular gland primordium, testis, thymus primordium, thyroid, tongue, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|604538
RG-div2	HIST1H1B	1.160241056	2.74E-07	DNA binding protein	BrainSpLMD|3009;Eurexp|euxassay_012857|marginal layer, ventricular layer	OMIM|142711
RG-div2	KHSRP	0.380703045	2.78E-07	Transcription regulatory protein	BrainSpLMD|8570	OMIM|603445
RG-div2	CCT4	0.319322403	2.79E-07	Chaperone	BrainSpLMD|10575	SFARI||Autism, 3 - Suggestive evidence;OMIM|605142
RG-div2	CENPO	0.276854133	2.81E-07	Unclassified	BrainSpLMD|79172;Eurexp|euxassay_000072|Meckel's cartilage, basal plate, chondrocranium, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, molar, olfactory, submandibular gland primordium, testis, thymus primordium, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|611504
RG-div2	CEP128	0.805659348	2.83E-07	Unclassified	BrainSpLMD|145508	
RG-div2	ESF1	0.25045616	2.84E-07	Unclassified	BrainSpLMD|51575	
RG-div2	NAA50	0.674079233	2.89E-07	Enzyme: Acyltransferase	BrainSpLMD|80218	OMIM|610834
RG-div2	DCAKD	0.731039097	2.91E-07	Enzyme: Phosphorylase	BrainSpLMD|79877	
RG-div2	SLC12A2	0.407374291	2.95E-07	Membrane transport protein	BrainSpLMD|6558;Eurexp|euxassay_008837|cortex, incisor, left lung, midgut, olfactory, pharyngo-tympanic tube, rectum, right lung, stomach, submandibular gland primordium;BrainSpMouseDev|20258	OMIM|600840
RG-div2	PABPN1	0.261339574	2.97E-07	RNA binding protein	BrainSpLMD|8106	OMIM|602279;HPO|8106|Abnormality of the pharynx, Adult onset, Autosomal dominant inheritance, Distal muscle weakness, Dysarthria, Dysphagia, Elevated serum creatine phosphokinase, Facial palsy, Gait disturbance, Limb muscle weakness, Mask-like facies, Myopathy, Neck muscle weakness, Ophthalmoplegia, Progressive, Progressive ptosis, Proximal muscle weakness, Ptosis, Ragged-red muscle fibers, Rimmed vacuoles, Spondylolisthesis
RG-div2	NUP62	0.430575372	3.03E-07	Transport/cargo protein	BrainSpLMD|23636	OMIM|605815;HPO|23636|Autosomal recessive inheritance, Choreoathetosis, Developmental regression, Developmental stagnation, Dysphagia, Dystonia, Failure to thrive, Intellectual disability, Optic atrophy, Pendular nystagmus, Spasticity
RG-div2	CYP20A1	0.40497723	3.10E-07	Enzyme: Oxygenase	BrainSpLMD|57404;Eurexp|euxassay_012299|mandible, mantle layer, maxilla, orbito-sphenoid	
RG-div2	ST7.OT4	0.841572105	3.15E-07			
RG-div2	PLXNB1	1.42220403	3.18E-07	Cell surface receptor	BrainSpLMD|5364;BrainSpMouseDev|88096	SFARI||Autism, 3 - Suggestive evidence;OMIM|601053
RG-div2	DTNA	0.552406523	3.23E-07	Unclassified	BrainSpLMD|1837;Eurexp|euxassay_010455|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|601239;HPO|1837|Atrial fibrillation, Autosomal dominant inheritance, Congestive heart failure, Hypoplastic left heart, Left ventricular hypertrophy, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Patent ductus arteriosus, Sudden cardiac death, Ventricular arrhythmia, Ventricular septal defect
RG-div2	IPO7	0.275527359	3.35E-07	Transport/cargo protein	BrainSpLMD|10527	OMIM|605586
RG-div2	GPAM	0.567897388	3.41E-07	Enzyme: Acyltransferase	BrainSpLMD|57678;Eurexp|euxassay_018573|left, right, ventricular layer	OMIM|602395
RG-div2	TBC1D5	0.414837105	3.45E-07	Unclassified	BrainSpLMD|9779	SFARI||Autism, 4 - Minimal evidence;OMIM|615740
RG-div2	NLGN3	0.872523721	3.46E-07	Integral membrane protein	BrainSpLMD|54413	SFARI||Autism, 2 - Strong candidate;OMIM|300336
RG-div2	HAUS8	0.670859095	3.47E-07	Unclassified	BrainSpLMD|93323	OMIM|613434
RG-div2	VGLL4	0.661407367	3.48E-07	Transcription regulatory protein	BrainSpLMD|9686;Eurexp|euxassay_000238|incisor, lung, molar, submandibular gland primordium, vibrissa	
RG-div2	CACHD1	0.523182948	3.49E-07	Voltage gated channel	BrainSpLMD|57685;Eurexp|euxassay_006310|incisor, lung, mantle layer, molar, naris, penis, ventricular layer	
RG-div2	PROSC	0.545912324	3.64E-07			
RG-div2	SRBD1	0.826819913	3.65E-07	Unclassified	BrainSpLMD|55133;Eurexp|euxassay_009989|olfactory, thymus primordium	
RG-div2	NUDT5	1.217816165	3.67E-07	Enzyme: Hydrolase	BrainSpLMD|11164	OMIM|609230
RG-div2	SPCS2P4	0.526151478	3.68E-07			
RG-div2	TECRP1	0.809330037	3.87E-07			
RG-div2	CEP78	0.534507124	3.88E-07	Unclassified		OMIM|617110;HPO|84131|Abnormal electroretinogram, Abnormality of cochlea, Astigmatism, Ataxia, Autosomal recessive inheritance, Cataract, Hemianopia, High-grade hypermetropia, Iris hypopigmentation, Macular degeneration, Nyctalopia, Nystagmus, Photophobia, Scotoma, Sensorineural hearing impairment, Vestibular hypofunction, Visual loss
RG-div2	ACTN1	0.809206001	3.90E-07	Cytoskeletal associated protein;Structural protein	BrainSpLMD|87	OMIM|102575;HPO|87|Anisocytosis, Autosomal dominant inheritance, Increased mean platelet volume, Thrombocytopenia
RG-div2	RANBP17	0.970435944	3.92E-07	Transport/cargo protein	BrainSpLMD|64901	SFARI||Autism, 2 - Strong candidate;OMIM|606141
RG-div2	TIMM10B	0.452414074	4.14E-07	Membrane transport protein	BrainSpLMD|26515	OMIM|607388
RG-div2	REV3L	0.263962662	4.25E-07	DNA polymerase	BrainSpLMD|5980;Eurexp|euxassay_009657|brain, olfactory, spinal cord, vomeronasal organ	OMIM|602776;HPO|5980|Abnormality of the voice, Aplasia of the pectoralis major muscle, Brachydactyly, Corneal opacity, Dysphagia, Everted lower lip vermilion, Facial palsy, Feeding difficulties in infancy, Mask-like facies, Motor delay, Muscular hypotonia, Open mouth, Ophthalmoplegia, Ptosis, Strabismus, Talipes equinovarus
RG-div2	PRPF38A	0.415327918	4.27E-07	Unclassified	BrainSpLMD|84950;Eurexp|euxassay_001967|incisor, submandibular gland primordium, vibrissa	OMIM|617031
RG-div2	LAPTM4B	0.592725666	4.38E-07	Unclassified	BrainSpLMD|55353;Eurexp|euxassay_001940|basal plate, choroid plexus, dorsal root ganglion, incisor, lateral recess, mantle layer, submandibular gland primordium, trigeminal V, ventral grey horn, vestibulocochlear VIII;BrainSpMouseDev|76980	OMIM|613296
RG-div2	FAM178A	0.686676571	4.38E-07			
RG-div2	ZHX3	0.836220869	4.40E-07	Transcription regulatory protein	BrainSpLMD|23051;Eurexp|euxassay_019571|cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, midgut, thoracic, trigeminal V, vagus X, vibrissa;BrainSpMouseDev|107734	OMIM|609598
RG-div2	COMMD10	0.743422256	4.43E-07	Unclassified	BrainSpLMD|51397	OMIM|616704
RG-div2	APBB2	0.549171682	4.52E-07	Adapter molecule	BrainSpLMD|323;Eurexp|euxassay_007659|corpus striatum, mantle layer, nasal septum, neural retina, turbinate bones, ventral grey horn	OMIM|602710
RG-div2	PRPS2	0.608401086	4.72E-07	Enzyme: Ligase	BrainSpLMD|5634	OMIM|311860
RG-div2	CHRAC1	0.404171116	4.86E-07	DNA binding protein	BrainSpLMD|54108	OMIM|607268
RG-div2	KIAA1430	0.368196011	4.88E-07			
RG-div2	TMEM209	0.427886914	5.01E-07	Integral membrane protein	BrainSpLMD|84928;Eurexp|euxassay_004682|ventricular layer	
RG-div2	DPY19L4	0.602803404	5.19E-07	Unclassified	BrainSpLMD|286148	OMIM|613895
RG-div2	TAF9	0.28255249	5.28E-07	Transcription regulatory protein	BrainSpLMD|6880;Eurexp|euxassay_002090|thymus primordium;BrainSpMouseDev|72303	OMIM|600822
RG-div2	PPAT	0.833005319	5.28E-07	Enzyme: Ribosyltransferase	BrainSpLMD|5471;Eurexp|euxassay_012583|left lung, liver, metanephros, midgut, olfactory lobe, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|172450
RG-div2	FOXRED1	0.55949144	5.32E-07	Unclassified	BrainSpLMD|55572	OMIM|613622;HPO|55572|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, CNS demyelination, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Dysarthria, Dystonia, Emotional lability, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Gliosis, Global developmental delay, Growth delay, Hepatic failure, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Phenotypic variability, Pigmentary retinopathy, Progressive, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
RG-div2	PDE8B	0.782993642	5.53E-07	Enzyme: Phosphodiesterase	BrainSpLMD|8622;Eurexp|euxassay_003225|adrenal gland, anterior, calyces, dermis, dorsal grey horn, mesenchyme, pancreas, posterior, skin, turbinate bones, ventral grey horn	OMIM|603390;HPO|8622|Adrenal hyperplasia, Autosomal dominant inheritance, Bradykinesia, Degeneration of the striatum, Diabetes mellitus, Dysarthria, Dysdiadochokinesis, Dysphagia, Fatigue, Gait disturbance, Hypertension, Hypogonadism, Hypokinesia, Increased circulating cortisol level, Increased susceptibility to fractures, Lower limb hyperreflexia, Muscle weakness, Osteoporosis, Pigmented micronodular adrenocortical disease, Rigidity, Short stature, Skeletal muscle atrophy, Slender build, Slow progression, Striae distensae, Symmetric lesions of the basal ganglia, Thin skin
RG-div2	NUFIP2	0.323107633	5.66E-07	RNA binding protein	BrainSpLMD|57532	OMIM|609356
RG-div2	UBE2G2	0.516830577	5.68E-07	Ubiquitin proteasome system protein	BrainSpLMD|7327	OMIM|603124
RG-div2	ACBD5	0.693917875	5.77E-07	Unclassified	BrainSpLMD|91452;Eurexp|euxassay_004319|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|616618
RG-div2	TMCO1	0.377569653	5.78E-07	Integral membrane protein	BrainSpLMD|54499;Eurexp|euxassay_010558|clavicle, mandible, maxilla, rib	OMIM|614123;HPO|54499|Bifid ribs, Brachycephaly, Broad philtrum, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Coarse hair, Downslanted palpebral fissures, Epicanthus, Hemivertebrae, Hernia, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Low posterior hairline, Low-set, posteriorly rotated ears, Macrocephaly, Midface retrusion, Narrow chest, Polyhydramnios, Rib fusion, Scoliosis, Short neck, Short nose, Short stature, Sprengel anomaly, Strabismus, Synophrys, Thick eyebrow, Ventriculomegaly, Wide mouth, Wide nose
RG-div2	AL353644.10	0.752355721	5.88E-07			
RG-div2	MSH6	0.386951307	6.04E-07	DNA repair protein	BrainSpLMD|2956;Eurexp|euxassay_006580|embryo	OMIM|600678;COSMIC||colorectal, colorectal, endometrial, ovarian;HPO|2956|Abdominal pain, Abnormality of abdomen morphology, Adenoma sebaceum, Anxiety, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary freckling, Basal cell carcinoma, Cafe-au-lait spot, Colon cancer, Constipation, Death in early adulthood, Death in infancy, Depressivity, Endometrial carcinoma, Ependymoma, Fatigue, Gastrointestinal hemorrhage, Glioblastoma, Hereditary nonpolyposis colorectal carcinoma, Hypermelanotic macule, Hypertonia, Incomplete penetrance, Increased intracranial pressure, Irritability, Leukemia, Lymphoma, Malabsorption, Medulloblastoma, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Neoplasm of the stomach, Neuroblastoma, Rhabdomyosarcoma, Seizures, Weight loss
RG-div2	UROD	0.315552867	6.06E-07	Enzyme: Decarboxylase	BrainSpLMD|7389;Eurexp|euxassay_009238|liver, marginal layer, ventricular layer	OMIM|613521;HPO|7389|Alopecia, Autosomal dominant inheritance, Cirrhosis, Cutaneous photosensitivity, Facial hypertrichosis, Fragile skin, Hemolytic anemia, Hepatocellular carcinoma, Hyperpigmentation in sun-exposed areas, Onycholysis, Scleroderma, Thin skin
RG-div2	TCTN2	0.873090121	6.14E-07	Unclassified	BrainSpLMD|79867;Eurexp|euxassay_000837|4th ventricle, choroid plexus, lateral recess, turbinate bones, ventricular layer	OMIM|613846;HPO|79867|Abdominal distention, Absent speech, Anophthalmia, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Broad forehead, Cataract, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Cleft palate, Cleft upper lip, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Dysmetria, Encephalocele, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Hyperechogenic kidneys, Hypermetropia, Hyperreflexia, Hypertelorism, Infantile onset, Intellectual disability, Lobar holoprosencephaly, Long face, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Pachygyria, Polydactyly, Polymicrogyria, Postaxial foot polydactyly, Postaxial hand polydactyly, Sclerocornea, Short neck, Short nose, Sloping forehead, Spasticity, Talipes, Talipes equinovarus
RG-div2	RFTN2	0.371540077	6.19E-07	Unclassified	BrainSpLMD|130132	
RG-div2	ADH5P4	0.393042555	6.40E-07			
RG-div2	SERBP1P5	0.34530033	6.42E-07			
RG-div2	PLXNC1	0.796533748	6.50E-07	Integral membrane protein	BrainSpLMD|10154;BrainSpMouseDev|34001	OMIM|604259
RG-div2	FAM84B	1.174825275	6.62E-07	Unclassified	BrainSpLMD|157638;Eurexp|euxassay_012212|choroid plexus, fundus, marginal layer, metanephros, molar, stomach, submandibular gland primordium, vibrissa	OMIM|609483
RG-div2	NMD3	0.441125546	6.85E-07	Unclassified	BrainSpLMD|51068	OMIM|611021
RG-div2	PPP2CB	0.50224721	7.08E-07	Serine/threonine phosphatase	BrainSpLMD|5516	OMIM|176916
RG-div2	ATF4	0.621633785	7.27E-07	Transcription factor	BrainSpLMD|468;BrainSpMouseDev|11698	OMIM|604064
RG-div2	MESDC2	0.642772444	7.29E-07			
RG-div2	MASP1	0.860020505	7.30E-07	Serine protease	BrainSpLMD|5648	OMIM|600521;HPO|5648|Abnormality of eye movement, Abnormality of the anterior chamber, Atrial septal defect, Autosomal recessive inheritance, Bilateral cryptorchidism, Blepharophimosis, Broad foot, Caudal appendage, Cleft palate, Cleft upper lip, Clinodactyly of the 5th finger, Conductive hearing impairment, Conjunctival telangiectasia, Coronal craniosynostosis, Craniosynostosis, Dental crowding, Diastasis recti, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus inversus, Glaucoma, Growth delay, Hearing impairment, Highly arched eyebrow, Hydronephrosis, Hyperlordosis, Hypertelorism, Intellectual disability, Intellectual disability, mild, Lambdoidal craniosynostosis, Large fleshy ears, Limited pronation/supination of forearm, Microcephaly, Omphalocele, Oral cleft, Patent ductus arteriosus, Postnatal growth retardation, Ptosis, Radioulnar synostosis, Sacral dimple, Scoliosis, Short 5th finger, Short foot, Single interphalangeal crease of fifth finger, Skull asymmetry, Spina bifida occulta, Supernumerary nipple, Telecanthus, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide anterior fontanel
RG-div2	BCL2L13	0.914872973	7.33E-07	Integral membrane protein	BrainSpLMD|23786	
RG-div2	CREM	0.482364821	7.49E-07	Transcription factor	BrainSpLMD|1390	OMIM|123812
RG-div2	PMS1	0.446242616	7.49E-07	DNA repair protein	BrainSpLMD|5378;BrainSpMouseDev|86518	OMIM|600258;COSMIC||colorectal, endometrial, ovarian;HPO|5378|Abdominal pain, Anxiety, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Colon cancer, Constipation, Death in early adulthood, Death in infancy, Depressivity, Fatigue, Gastrointestinal hemorrhage, Glioblastoma, Hypertonia, Increased intracranial pressure, Irritability, Malabsorption, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Seizures, Weight loss
RG-div2	GPD2	0.727267578	7.82E-07	Enzyme: Dehydrogenase	BrainSpLMD|2820;Eurexp|euxassay_018668|nucleus pulposus, submandibular gland primordium	SFARI||Autism, No category;OMIM|138430
RG-div2	ARL3	0.351919714	8.02E-07	GTPase	BrainSpLMD|403	OMIM|604695
RG-div2	NFATC2IP	0.410960245	8.09E-07	Unclassified	BrainSpLMD|84901	OMIM|614525
RG-div2	ACOT9	0.841430183	8.18E-07	Enzyme: Esterase	BrainSpLMD|23597;Eurexp|euxassay_001726|dorsal root ganglion, trigeminal V, vagus X	OMIM|300862
RG-div2	RHOQ	0.821601776	8.29E-07	GTPase		OMIM|605857
RG-div2	APOO	0.637808906	8.65E-07	Unclassified	BrainSpLMD|79135;Eurexp|euxassay_008790|left, right	OMIM|300753
RG-div2	SRR	0.475092603	8.73E-07	Enzyme: Racemase	BrainSpLMD|63826	OMIM|606477
RG-div2	TMEM161B.AS1	0.289605191	8.75E-07			
RG-div2	SGCE	0.336533221	8.84E-07	Extracellular matrix protein	BrainSpLMD|8910	OMIM|604149;HPO|8910|Agoraphobia, Anxiety, Autosomal dominant inheritance, Depressivity, Incomplete penetrance, Juvenile onset, Myoclonus, Obsessive-compulsive behavior, Torticollis, Tremor, Writer's cramp
RG-div2	HNRNPL	0.3036099	8.96E-07	Ribonucleoprotein	BrainSpLMD|3191	OMIM|603083
RG-div2	CSTF1	0.457598697	9.37E-07	RNA binding protein	BrainSpLMD|1477	OMIM|600369
RG-div2	ENY2	0.936563777	9.69E-07	Transcription factor	BrainSpLMD|56943;Eurexp|euxassay_006635|ventricular layer	
RG-div2	SNRNP40	0.355783898	9.78E-07	RNA binding protein	BrainSpLMD|9410;Eurexp|euxassay_006151|cortex, liver, lung, metanephros, submandibular gland primordium	OMIM|607797
RG-div2	CLEC2D	0.424505014	1.01E-06	Cell surface receptor	BrainSpLMD|29121	OMIM|605659
RG-div2	RB1	0.656984614	1.01E-06	Transcription regulatory protein	BrainSpLMD|5925;Eurexp|euxassay_005526|olfactory, tongue, vertebral axis muscle system, vibrissa;BrainSpMouseDev|19408	OMIM|614041;COSMIC||retinoblastoma, sarcoma, breast, small cell lung carcinoma, retinoblastoma, sarcoma, breast, small cell lung carcinoma;HPO|5925|Abnormal dermatoglyphics, Abnormal lactate dehydrogenase activity, Abnormality of cardiovascular system morphology, Abnormality of metabolism/homeostasis, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphysis, Autosomal dominant inheritance, Brachydactyly, Cataract, Cleft palate, Clinodactyly of the 5th finger, Elevated alkaline phosphatase, Epicanthus, Ewing's sarcoma, Finger syndactyly, Hypertelorism, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Joint swelling, Leukemia, Leukocoria, Low-set ears, Lymphoma, Microcephaly, Micrognathia, Microphthalmia, Muscular hypotonia, Neoplasm of the lung, Osteolysis, Osteosarcoma, Pain, Pinealoma, Prominent nasal bridge, Protruding ear, Ptosis, Retinal calcification, Retinoblastoma, Short neck, Short stature, Somatic mutation, Sporadic, Thickened helices, Transitional cell carcinoma of the bladder, Trigonocephaly, Vitreous hemorrhage, Wide nasal bridge
RG-div2	TET1	0.378393752	1.02E-06	DNA binding protein	BrainSpLMD|80312;Eurexp|euxassay_012372|primitive seminiferous tubules	OMIM|607790;COSMIC||AML
RG-div2	PEX2	0.827792049	1.05E-06	Integral membrane protein	BrainSpLMD|5828;Eurexp|euxassay_006584|embryo	OMIM|170993;HPO|5828|Abnormal heart morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the helix, Abnormality of the liver, Abnormality of the palate, Anteverted nares, Areflexia, Ataxia, Autosomal recessive inheritance, Behavioral abnormality, Bilateral single transverse palmar creases, Brushfield spots, Camptodactyly, Cataract, Cerebellar atrophy, Chorioretinal abnormality, Cleft palate, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Cubitus valgus, Death in infancy, Decreased liver function, Depressed nasal bridge, Developmental regression, Difficulty running, Dolichocephaly, Dysarthria, Dysmetria, EEG abnormality, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, External ear malformation, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Generalized neonatal hypotonia, Global developmental delay, Hepatic failure, Hepatomegaly, Hepatosplenomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypertelorism, Hyporeflexia, Hypospadias, Intellectual disability, Intrahepatic biliary dysgenesis, Intrauterine growth retardation, Jaundice, Large fontanelles, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrogyria, Malabsorption, Metatarsus adductus, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Muscular hypotonia, Neonatal hypotonia, Nyctalopia, Nystagmus, Oculomotor apraxia, Opacification of the corneal stroma, Optic atrophy, Optic nerve dysplasia, Palpebral edema, Pigmentary retinopathy, Polymicrogyria, Poor suck, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Renal cortical microcysts, Renal cyst, Respiratory insufficiency, Rod-cone dystrophy, Round face, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Single transverse palmar crease, Skeletal dysplasia, Slow progression, Slow saccadic eye movements, Spasticity, Splenomegaly, Stippled chondral calcification, Strabismus, Talipes equinovarus, Tremor, Underdeveloped supraorbital ridges, Unsteady gait, Upslanted palpebral fissure, Variable expressivity, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge
RG-div2	GPCPD1	0.629871505	1.06E-06	Enzyme: Phosphodiesterase	BrainSpLMD|56261	OMIM|614124
RG-div2	KCTD3	0.745863393	1.12E-06	Ion channel	BrainSpLMD|51133	OMIM|613272
RG-div2	SGOL2	0.89381966	1.17E-06			
RG-div2	SGSM2	0.475713495	1.18E-06	Unclassified	BrainSpLMD|9905	OMIM|611418
RG-div2	CEP89	0.292751035	1.19E-06	Unclassified	BrainSpLMD|84902	OMIM|615470;COSMIC||Spitzoid tumour
RG-div2	ATR	0.725278751	1.20E-06	Serine/threonine kinase	BrainSpLMD|545	OMIM|601215;COSMIC||endometrial, gastric, epithelial ovarian, myeloma, oropharyngeal, Seckel syndrome 1;HPO|545|11 pairs of ribs, Abnormal finger flexion creases, Abnormality of dental enamel, Abnormality of the pinna, Absent earlobe, Alopecia, Autosomal dominant inheritance, Autosomal recessive inheritance, Blepharophimosis, Cachexia, Carious teeth, Cerebellar vermis hypoplasia, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Cognitive impairment, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Convex nasal ridge, Craniosynostosis, Cryptorchidism, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Dislocated radial head, Downslanted palpebral fissures, Elbow flexion contracture, Facial asymmetry, Glaucoma, High palate, Hip dislocation, Hip dysplasia, Hyperactivity, Hypoplasia of dental enamel, Hypoplasia of proximal fibula, Hypoplasia of proximal radius, Hypospadias, Intellectual disability, Intrauterine growth retardation, Ivory epiphyses, Joint hyperflexibility, Large basal ganglia, Large eyes, Low-set ears, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Pachygyria, Pancytopenia, Pes planus, Postnatal growth retardation, Prematurely aged appearance, Prominent nose, Proportionate short stature, Reduced number of teeth, Sandal gap, Scoliosis, Seizures, Selective tooth agenesis, Short stature, Single transverse palmar crease, Sloping forehead, Small anterior fontanelle, Sparse scalp hair, Strabismus, Talipes, Telangiectasia
RG-div2	PRTFDC1	0.831031569	1.22E-06	Unclassified	BrainSpLMD|56952	OMIM|610751
RG-div2	GPC1	0.51762814	1.24E-06	Cell surface receptor	BrainSpLMD|2817;Eurexp|euxassay_007466|cervical, cervico-thoracic, clavicle, cochlea, diaphragm, dorsal root ganglion, exoccipital bone, extrinsic ocular muscle, facial VII, femur, fibula, glossopharyngeal IX, humerus, incisor, lip, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, neural retina, nucleus pulposus, olfactory, orbito-sphenoid, pancreas, pelvic girdle, radius, rest of mesenchyme, rib, saccule, skeletal muscle, sternum, stomach, submandibular gland primordium, thoracic, thymus primordium, tibia, trigeminal V, ulna, vagus X, valve, vault of skull, ventral grey horn, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|600395
RG-div2	GAPDHP65	0.317778323	1.34E-06			
RG-div2	RBM23	0.312567899	1.35E-06	Transcription regulatory protein	BrainSpLMD|55147	
RG-div2	SSX2IP	0.524582735	1.35E-06	Adhesion molecule	BrainSpLMD|117178	OMIM|608690
RG-div2	HSPB11	0.264356163	1.36E-06	Unclassified	BrainSpLMD|51668	
RG-div2	POLR1C	0.607631333	1.38E-06	RNA polymerase	BrainSpLMD|9533	OMIM|610060;HPO|9533|Abnormality of bone mineral density, Abnormality of the outer ear, Absent eyelashes, Ataxia, Autosomal recessive inheritance, CNS hypomyelination, Cleft eyelid, Cleft palate, Conductive hearing impairment, Downslanted palpebral fissures, Frontal bossing, Global developmental delay, Hypergonadotropic hypogonadism, Hypodontia, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Intellectual disability, Iris coloboma, Leukodystrophy, Low anterior hairline, Lower eyelid coloboma, Malar flattening, Mandibulofacial dysostosis, Micrognathia, Microtia, Midface retrusion, Narrow internal auditory canal, Open bite, Reduced number of teeth, Retrognathia, Short face, Skeletal dysplasia, Strabismus, Tremor, Visual impairment, Wide nasal bridge
RG-div2	EIF3A	0.265581952	1.38E-06	Translation regulatory protein	BrainSpLMD|8661	OMIM|602039
RG-div2	WHSC1	0.590840518	1.39E-06			
RG-div2	USP54	0.538407554	1.39E-06	Unclassified	BrainSpLMD|159195	
RG-div2	TYW3	0.83879336	1.47E-06	Unclassified	BrainSpLMD|127253	OMIM|611245
RG-div2	ZC3HC1	0.933419721	1.48E-06	Unclassified	BrainSpLMD|51530	
RG-div2	ZDHHC6	0.585867551	1.50E-06	Integral membrane protein	BrainSpLMD|64429	
RG-div2	RMDN1	0.636133639	1.52E-06	Unclassified	BrainSpLMD|51115	OMIM|611871
RG-div2	TCEB3	0.292347216	1.55E-06			
RG-div2	NR2F1	0.40597378	1.56E-06	Nuclear receptor	BrainSpLMD|7025;BrainSpMouseDev|13643	SFARI||Autism, 4 - Minimal evidence;OMIM|132890;HPO|7025|Autosomal dominant inheritance, Global developmental delay, Intellectual disability, Nystagmus, Optic atrophy, Optic disc pallor, Reduced visual acuity, Strabismus, Tapered finger, Visual field defect, Visual impairment
RG-div2	CENPE	0.630722075	1.56E-06	DNA binding protein	BrainSpLMD|1062	OMIM|117143;HPO|1062|Abnormality of dental enamel, Absent earlobe, Autosomal recessive inheritance, Cachexia, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Hip dysplasia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Metaphyseal sclerosis, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Partial agenesis of the corpus callosum, Prematurely aged appearance, Prominent nose, Reduced number of teeth, Round face, Sandal gap, Seizures, Short foot, Short stature, Sloping forehead, Small hand, Sparse scalp hair
RG-div2	ALKBH2	1.05198843	1.57E-06	DNA repair protein	BrainSpLMD|121642	OMIM|610602
RG-div2	GLTP	0.317829956	1.59E-06	Transport/cargo protein	BrainSpLMD|51228;Eurexp|euxassay_005240|anterior, external, thymus primordium	OMIM|608949
RG-div2	FAM92A1	0.28752613	1.61E-06			
RG-div2	ACADM	0.281917024	1.64E-06	Enzyme: Dehydrogenase	BrainSpLMD|34	OMIM|607008;HPO|34|Autosomal recessive inheritance, Cerebral edema, Coma, Decreased plasma carnitine, Elevated hepatic transaminases, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hepatomegaly, Hyperglycinuria, Hypoglycemia, Lethargy, Medium chain dicarboxylic aciduria, Metabolic acidosis, Seizures, Vomiting
RG-div2	SAP30BP	0.270265437	1.71E-06	Transcription regulatory protein	BrainSpLMD|29115;Eurexp|euxassay_003056|submandibular gland primordium	OMIM|610218
RG-div2	PHYHIPL	0.390279447	1.72E-06	Unclassified;Integral membrane protein	BrainSpLMD|84457;Eurexp|euxassay_002109|brain, dorsal root ganglion, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	
RG-div2	TAF15	0.275440958	1.73E-06	Transcription regulatory protein	BrainSpLMD|8148	OMIM|601574;COSMIC||extraskeletal myxoid chondrosarcoma, ALL;HPO|8148|Amyotrophic lateral sclerosis, Anxiety, Chondrosarcoma, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Somatic mutation, Spasticity, Xerostomia
RG-div2	FNTB	0.56082781	1.74E-06	Enzyme: Prenyltransferase;Unclassified	BrainSpLMD|2342	OMIM|134636
RG-div2	HADHB	0.570589594	1.74E-06	Enzyme: Dehydrogenase	BrainSpLMD|3032	OMIM|143450;HPO|3032|Abnormality of the amniotic fluid, Autosomal recessive inheritance, Congestive heart failure, Dilated cardiomyopathy, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Generalized muscle weakness, Global developmental delay, Hydrops fetalis, Hyperammonemia, Hypoketotic hypoglycemia, Lactic acidosis, Myalgia, Myoglobinuria, Peripheral neuropathy, Prenatal maternal abnormality, Respiratory failure, Rhabdomyolysis, Small for gestational age
RG-div2	LARP4	0.741100943	1.79E-06	RNA binding protein	BrainSpLMD|113251	
RG-div2	LSM4	0.873807396	1.83E-06	RNA binding protein	BrainSpLMD|25804	OMIM|607284
RG-div2	SLC35A4	0.99074599	1.83E-06	Membrane transport protein	BrainSpLMD|113829;Eurexp|euxassay_004834|axial muscle, cranium, ventricular layer	
RG-div2	CSE1L	0.427743765	1.83E-06	Transport/cargo protein	BrainSpLMD|1434;Eurexp|euxassay_000112|cortex, gland, glossopharyngeal IX, incisor, liver, lung, metanephros, physiological umbilical hernia, submandibular gland primordium, thymus primordium, trigeminal V, turbinate bones, vagus X, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|601342
RG-div2	GAB1	0.668078396	1.85E-06	Adapter molecule	BrainSpLMD|2549	OMIM|604439
RG-div2	SCML1	0.820828954	1.85E-06	Transcription regulatory protein	BrainSpLMD|6322	OMIM|300227
RG-div2	RCC1	0.311308262	1.90E-06	Guanine nucleotide exchange factor	BrainSpLMD|1104;Eurexp|euxassay_000016|lateral wall, liver, lung, mandible, mantle layer, marginal layer, metanephros, palatal shelf, submandibular gland primordium, thymus primordium, trigeminal V, ventricular layer, vibrissa	OMIM|179710
RG-div2	PPP2R1A	0.294374063	1.94E-06	Serine/threonine phosphatase	BrainSpLMD|5518;Eurexp|euxassay_002761|dorsal root ganglion, facial VII, glossopharyngeal IX, inferior, nucleus pulposus, superior, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII	OMIM|605983;COSMIC||clear cell ovarian carcinoma;HPO|5518|Abnormal hair whorl, Anteverted nares, Autosomal dominant inheritance, Broad hallux, Congenital visual impairment, Delayed gross motor development, Delayed myelination, Deviation of the 5th finger, Downslanted palpebral fissures, Facial asymmetry, Facial hypotonia, Generalized hypotonia, Global developmental delay, Hydrocephalus, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Joint hypermobility, Open mouth, Pectus excavatum, Plagiocephaly, Prominent metopic ridge, Seizures, Tented upper lip vermilion, Ventriculomegaly
RG-div2	ETF1	0.322375888	1.99E-06	Translation regulatory protein	BrainSpLMD|2107	OMIM|600285
RG-div2	MRPS14	0.546107168	2.01E-06	Ribosomal subunit	BrainSpLMD|63931	OMIM|611978
RG-div2	NPAT	0.271339775	2.01E-06	Cell cycle control protein	BrainSpLMD|4863	OMIM|601448
RG-div2	CLNS1A	0.260190859	2.05E-06	Transport/cargo protein	BrainSpLMD|1207	OMIM|602158
RG-div2	PSMA2	0.552015004	2.05E-06	Ubiquitin proteasome system protein	BrainSpLMD|5683	OMIM|176842
RG-div2	ZNF644	0.394581484	2.08E-06	DNA binding protein	BrainSpLMD|84146	OMIM|614159;HPO|84146|Autosomal dominant inheritance, Severe Myopia
RG-div2	SAV1	1.124381563	2.11E-06	Transcription regulatory protein	BrainSpLMD|60485	OMIM|607203
RG-div2	FAM3C	1.624448451	2.15E-06	Cytokine	BrainSpMouseDev|27743	OMIM|608618
RG-div2	ITM2C	0.448979768	2.16E-06	Integral membrane protein	BrainSpLMD|81618	OMIM|609554
RG-div2	METTL15	0.841293298	2.26E-06	Enzyme: Methyltransferase	BrainSpLMD|196074	
RG-div2	TRAPPC1	0.406573147	2.29E-06	Transport/cargo protein	BrainSpLMD|58485	OMIM|610969
RG-div2	GLMN	0.447639158	2.38E-06	Unclassified;Ligand	BrainSpLMD|11146	OMIM|601749;HPO|11146|Abnormality of metabolism/homeostasis, Abnormality of the skin, Autosomal dominant inheritance
RG-div2	RPSA	0.339998259	2.43E-06	Cell surface receptor;Ribosomal subunit	BrainSpLMD|3921	OMIM|150370;HPO|3921|Abnormality of abdomen morphology, Abnormality of metabolism/homeostasis, Asplenia, Autosomal dominant inheritance, Autosomal recessive inheritance, Infantile onset
RG-div2	PSMB6	0.279197815	2.44E-06	Ubiquitin proteasome system protein	BrainSpLMD|5694	OMIM|600307
RG-div2	G6PC3	0.630087371	2.47E-06	Enzyme: Phosphatase	BrainSpLMD|92579;Eurexp|euxassay_000619|olfactory, ventricular layer	OMIM|611045;HPO|92579|Anemia, Atrial septal defect, Autosomal recessive inheritance, Broad thumb, Cleft palate, Clinodactyly, Cryptorchidism, Erythroid hypoplasia, Failure to thrive, Growth delay, Hearing impairment, Hepatomegaly, High palate, Hypoplasia of the thymus, Lymphopenia, Microcephaly, Mitral regurgitation, Monocytosis, Neutropenia, Patent ductus arteriosus, Pectus carinatum, Phenotypic variability, Pulmonary arterial hypertension, Pulmonic stenosis, Recurrent bacterial infections, Recurrent respiratory infections, Respiratory insufficiency, Sepsis, Single transverse palmar crease, Splenomegaly, Thrombocytopenia, Varicose veins, Wide nasal bridge
RG-div2	DFFA	0.619963766	2.47E-06	Chaperone	BrainSpLMD|1676	OMIM|601882
RG-div2	WDR43	0.250967616	2.49E-06	Unclassified	Eurexp|euxassay_006414|axial muscle, clavicle, cortex, incisor, midgut, molar, submandibular gland primordium, thymus primordium, vibrissa	OMIM|616195
RG-div2	ACD	0.687105992	2.52E-06	Transcription regulatory protein	BrainSpLMD|65057	OMIM|609377;HPO|65057|Abnormality of coagulation, Abnormality of the hair, Abnormality of the lymphatic system, Anemia, Aplastic anemia, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone marrow hypocellularity, Cerebellar hypoplasia, Cerebral cortical atrophy, Dermal atrophy, Dry skin, Esophageal stenosis, Excessive wrinkled skin, Failure to thrive, Freckling, Generalized hyperpigmentation, Generalized hypopigmentation of hair, Global developmental delay, Hypertonia, Immunodeficiency, Intellectual disability, Intrauterine growth retardation, Melanoma, Microcephaly, Nail dystrophy, Nevus, Oral leukoplakia, Premature graying of hair, Short stature, Sparse scalp hair, Thrombocytopenia, Ventriculomegaly
RG-div2	CASP6	1.13826875	2.52E-06	Cysteine protease	BrainSpLMD|839;Eurexp|euxassay_004793|adenohypophysis, bladder, heart, incisor, inner ear, intraventricular portion, lung, mantle layer, metanephros, midgut, naris, olfactory, pancreas, pharyngo-tympanic tube, respiratory, stomach, testis, thymus primordium, urethra, ventricular layer, vibrissa	OMIM|601532
RG-div2	TBCD	0.485667723	2.59E-06	Chaperone	BrainSpLMD|6904	OMIM|604649;HPO|6904|Arthrogryposis multiplex congenita, Atrophy/Degeneration affecting the brainstem, Autosomal recessive inheritance, CNS hypomyelination, Cerebellar atrophy, Constipation, Developmental regression, Diffuse cerebral atrophy, Encephalopathy, Facial hypotonia, Feeding difficulties, Gliosis, Global developmental delay, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Micrognathia, Muscle weakness, Neuronal loss in central nervous system, Optic atrophy, Postnatal microcephaly, Scoliosis, Seizures, Severe muscular hypotonia, Skeletal muscle atrophy, Sparse eyebrow, Spastic tetraplegia, Tongue fasciculations, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Widely spaced teeth
RG-div2	LSM6	0.7885299	2.70E-06	RNA binding protein	BrainSpLMD|11157	OMIM|607286
RG-div2	BTBD3	0.478521976	2.75E-06	Unclassified	BrainSpLMD|22903;Eurexp|euxassay_006662|adenohypophysis, anterior, axial skeleton, cartilaginous ring, cervical, cervico-thoracic, clavicle, diaphragm, epithelium, glossopharyngeal IX, lip, mantle layer, marginal layer, mesenchyme, oral epithelium, pectoralis major, pectoralis minor, phalanx, posterior, thoracic, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|615566
RG-div2	RP11.473N11.2	0.252537906	2.85E-06			
RG-div2	WBP1L	0.34894418	2.86E-06	Integral membrane protein	BrainSpLMD|54838;Eurexp|euxassay_007077|cortex	OMIM|611129
RG-div2	OIP5.AS1	0.407205803	2.86E-06			
RG-div2	VOPP1	0.656092332	2.90E-06	Transcription regulatory protein	BrainSpLMD|81552;Eurexp|euxassay_012572|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611915
RG-div2	DIS3L	0.679387763	3.02E-06	Unclassified	BrainSpLMD|115752	OMIM|614183
RG-div2	SMG9	1.142565332	3.07E-06	Unclassified	BrainSpLMD|56006	OMIM|613176;HPO|56006|Abnormality of the pinna, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Camptodactyly of finger, Cerebral atrophy, Cleft lip, Dandy-Walker malformation, Delayed CNS myelination, Depressed nasal bridge, Everted lower lip vermilion, Gastroesophageal reflux, Generalized hypotonia, Global brain atrophy, Global developmental delay, Growth delay, Hand clenching, High, narrow palate, Hyperactive deep tendon reflexes, Hypertelorism, Hypoplasia of the corpus callosum, Interrupted aortic arch, Low-set ears, Microcephaly, Microphthalmia, Muscular hypotonia of the trunk, Narrow forehead, Polyhydramnios, Poor eye contact, Posteriorly rotated ears, Prominent forehead, Prominent metopic ridge, Prominent occiput, Thick lower lip vermilion, Ventricular septal defect, Visual impairment, Wide anterior fontanel, Wide nasal bridge
RG-div2	ARHGAP12	0.578994509	3.18E-06	GTPase activating protein	BrainSpLMD|94134;Eurexp|euxassay_008610|axial skeleton, basioccipital bone, basisphenoid bone, bladder, brain, dorsal root ganglion, facial VII, femur, glossopharyngeal IX, midgut, neural retina, olfactory, pelvic girdle, spinal cord, stomach, trigeminal V, vestibulocochlear VIII	OMIM|610577
RG-div2	PRIM2	0.336114375	3.20E-06	RNA polymerase	BrainSpLMD|5558;Eurexp|euxassay_018428|incisor, left, marginal layer, molar, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|176636
RG-div2	TFDP1	0.720375569	3.24E-06	Transcription factor	BrainSpLMD|7027;BrainSpMouseDev|21540	OMIM|189902
RG-div2	TRERF1	0.373360213	3.27E-06	Transcription factor	BrainSpLMD|55809	OMIM|610322
RG-div2	SS18	0.409956517	3.29E-06	Transcription regulatory protein	BrainSpLMD|6760	OMIM|600192;COSMIC||synovial sarcoma
RG-div2	SIMC1	0.308530124	3.31E-06	Unclassified	BrainSpLMD|375484	
RG-div2	RP11.168J18.6	0.394466891	3.38E-06			
RG-div2	HDAC1	0.823276898	3.40E-06	Transcription regulatory protein	BrainSpLMD|3065	OMIM|601241
RG-div2	PCGF5	0.98863113	3.45E-06	Ubiquitin proteasome system protein	BrainSpLMD|84333	OMIM|617407
RG-div2	TOR1AIP2	0.304327865	3.47E-06	Unclassified	BrainSpLMD|163590	OMIM|614513
RG-div2	KIF23	0.529789568	3.52E-06	Motor protein	BrainSpLMD|9493;Eurexp|euxassay_006188|incisor, lung, mantle layer, marginal layer, olfactory, submandibular gland primordium, thymus primordium, thyroid, ventricular layer	OMIM|605064;HPO|9493|Abnormal cellular phenotype, Abnormal proerythroblast morphology, Anemia, Anisocytosis, Fatigue, Hyperbilirubinemia, Increased mean corpuscular volume, Increased serum iron, Increased total iron binding capacity, Poikilocytosis
RG-div2	LRRC41	0.606476721	3.53E-06	Adapter molecule	BrainSpLMD|10489	
RG-div2	H6PD	0.747520711	3.55E-06	Enzyme: Dehydrogenase	BrainSpLMD|9563	OMIM|138090;HPO|9563|Acne, Autosomal recessive inheritance, Hirsutism, Infertility, Obesity, Oligomenorrhea
RG-div2	FZD3	0.306760639	3.64E-06	G protein coupled receptor	BrainSpLMD|7976;BrainSpMouseDev|14141	OMIM|606143
RG-div2	HSPA4L	0.757032728	3.74E-06	Heat shock protein	BrainSpLMD|22824;Eurexp|euxassay_006441|cervico-thoracic, diencephalon, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, hindbrain, left, mantle layer, mesenchyme, midbrain, midgut, neural retina, olfactory, pituitary, posterior, right, skeletal muscle, spinal cord, thoracic, thymus primordium, trachea, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	
RG-div2	LSM8	0.550132277	3.76E-06	RNA binding protein	BrainSpLMD|51691	OMIM|607288
RG-div2	RAD18	1.031416101	3.84E-06	DNA binding protein	BrainSpLMD|56852	OMIM|605256
RG-div2	FAM227A	0.942527619	3.92E-06			
RG-div2	TMEM9	0.477286794	3.92E-06	Integral membrane protein	BrainSpLMD|252839;Eurexp|euxassay_003611|choroid plexus, incisor, lateral recess, molar	OMIM|616877
RG-div2	ZNF620	0.868579692	3.99E-06	DNA binding protein	BrainSpLMD|253639	
RG-div2	CDC42EP4	0.584796061	4.02E-06	Cytoskeletal protein	BrainSpLMD|23580;Eurexp|euxassay_003531|left lung, right lung, ventricular layer, vibrissa	OMIM|605468
RG-div2	SRRT	0.556544039	4.02E-06	Unclassified	BrainSpLMD|51593	OMIM|614469
RG-div2	SNRPA	0.369820993	4.04E-06	RNA binding protein	BrainSpLMD|6626;Eurexp|euxassay_005694|embryo	OMIM|182285
RG-div2	MTHFD1L	0.967988213	4.09E-06	Enzyme: Ligase	BrainSpLMD|25902;Eurexp|euxassay_002080|Meckel's cartilage, foregut-midgut junction, hindgut, lobe, midgut, neural retina, orbito-sphenoid, rectum, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|611427
RG-div2	GSTO1	0.261224196	4.21E-06	Enzyme: Glutathione transferase	BrainSpLMD|9446;Eurexp|euxassay_018672|midgut, oesophagus, stomach	OMIM|605482
RG-div2	SNX7	0.433653324	4.30E-06	Unclassified	BrainSpLMD|51375	OMIM|614904
RG-div2	MITD1	0.429756917	4.54E-06	Unclassified	BrainSpLMD|129531	
RG-div2	NUP214	0.272864502	4.62E-06	Transport/cargo protein	BrainSpLMD|8021	OMIM|114350;COSMIC||AML, T-ALL;HPO|8021|Acute lymphoblastic leukemia, Polygenic inheritance
RG-div2	MAGOH	0.273320431	4.65E-06	Cell cycle control protein	BrainSpLMD|4116	OMIM|602603
RG-div2	H2AFY2	1.177339317	4.69E-06	DNA binding protein	BrainSpLMD|55506	OMIM|616141
RG-div2	VKORC1	0.352527466	4.70E-06	Enzyme: Reductase;Coagulation factor	BrainSpLMD|79001;Eurexp|euxassay_000753|Meckel's cartilage, chondrocranium, incisor, molar	OMIM|608547;HPO|79001|Abnormal bleeding, Abnormality of blood and blood-forming tissues, Abnormality of metabolism/homeostasis, Autosomal dominant inheritance, Autosomal recessive inheritance, Reduced factor IX activity, Reduced factor VII activity, Reduced factor X activity, Reduced prothrombin activity
RG-div2	OPHN1	0.80744655	4.71E-06	GTPase activating protein	BrainSpLMD|4983	SFARI||Autism, 3 - Suggestive evidence;OMIM|300127;HPO|4983|Attention deficit hyperactivity disorder, Autism, Cerebellar hypoplasia, Cryptorchidism, Deeply set eye, Delayed speech and language development, Disorganization of the anterior cerebellar vermis, Dysmetria, Enlarged cisterna magna, Frontal bossing, Gait ataxia, Generalized hypotonia, Global developmental delay, Hyperactivity, Hypotelorism, Infantile onset, Intellectual disability, Long face, Long nose, Macrocephaly, Macrotia, Mandibular prognathia, Micropenis, Microphallus, Muscular hypotonia, Neurological speech impairment, Nystagmus, Prominent forehead, Prominent supraorbital ridges, Retrocerebellar cyst, Scrotal hypoplasia, Seizures, Short philtrum, Spasticity, Strabismus, Thin upper lip vermilion, X-linked recessive inheritance
RG-div2	TMEM41B	0.449883456	4.78E-06	Integral membrane protein		
RG-div2	ZNF22	0.528421979	4.81E-06	DNA binding protein	BrainSpLMD|7570;Eurexp|euxassay_004421|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|194529
RG-div2	TADA2A	0.444873917	4.81E-06	Transcription regulatory protein	BrainSpLMD|6871	OMIM|602276
RG-div2	BAZ1A	0.52458342	4.82E-06	DNA binding protein	BrainSpLMD|11177	OMIM|605680
RG-div2	SMIM7	0.386261587	4.90E-06	Unclassified	BrainSpLMD|79086	
RG-div2	SFI1	0.674067372	4.92E-06	Unclassified	BrainSpLMD|9814;Eurexp|euxassay_000826|associated mesenchyme, axial skeleton, cartilaginous ring, cranium, dermis, detrusor muscle, duodenum, epithelium, gut, limb, liver, mesenchyme, pectoral girdle and thoracic body wall, pelvic girdle, perioptic mesenchyme, skeleton, stomach, visceral pericardium	OMIM|612765
RG-div2	PRIMPOL	0.872396181	5.10E-06	Unclassified	BrainSpLMD|201973	OMIM|615421;HPO|201973|Autosomal dominant inheritance, Myopia, Reduced visual acuity, Visual impairment
RG-div2	GPR125	0.395032645	5.20E-06			
RG-div2	PAXIP1	0.289510088	5.24E-06	Transcription regulatory protein	BrainSpLMD|22976	OMIM|608254
RG-div2	METTL21A	0.850907148	5.42E-06	Unclassified	BrainSpLMD|151194	OMIM|615257
RG-div2	SLC20A1	0.465000947	5.56E-06	Membrane transport protein	BrainSpLMD|6574;Eurexp|euxassay_009182|brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, liver, marginal layer, metanephros, midgut, primitive seminiferous tubules, spinal cord, submandibular gland primordium, thoracic, trigeminal V, vagus X	OMIM|137570
RG-div2	CPSF7	0.663798529	5.73E-06	Unclassified	BrainSpLMD|79869;Eurexp|euxassay_007331|embryo	
RG-div2	LDLRAD3	0.447820978	6.03E-06	Unclassified	BrainSpLMD|143458;Eurexp|euxassay_011393|dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, stomach, trigeminal V, vagus X, vestibulocochlear VIII	
RG-div2	XRCC6	0.345133618	6.06E-06	DNA binding protein	BrainSpLMD|2547;Eurexp|euxassay_003500|axial muscle, left, orbito-sphenoid, pancreas, right, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|152690
RG-div2	SLC2A3	0.583366415	6.14E-06	Membrane transport protein	BrainSpLMD|6515	OMIM|138170;HPO|6515|Abnormality of movement, Abnormality of the voice, Behavioral abnormality, Cerebral cortical atrophy, Dementia, Developmental regression, EEG abnormality, Spasticity
RG-div2	CBL	0.369492114	6.24E-06	Ubiquitin proteasome system protein	BrainSpLMD|867	OMIM|165360;COSMIC||AML, JMML, MDS;HPO|867|Aortic valve stenosis, Autosomal dominant inheritance, Bicuspid aortic valve, Cafe-au-lait spot, Cryptorchidism, Cubitus valgus, Deep philtrum, Delayed speech and language development, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Fine hair, Frontal bossing, Generalized hypotonia, Global developmental delay, Hypertelorism, Joint hypermobility, Joint laxity, Juvenile myelomonocytic leukemia, Long philtrum, Low-set ears, Macrotia, Mitral regurgitation, Pectus excavatum, Phenotypic variability, Posteriorly rotated ears, Ptosis, Short neck, Somatic mutation, Sparse hair, Thick vermilion border, Triangular face, Webbed neck, Wide intermamillary distance
RG-div2	PSMC3	0.361773403	6.35E-06	Ubiquitin proteasome system protein	BrainSpLMD|5702	OMIM|186852
RG-div2	SLC25A13	0.741825392	6.37E-06	Calcium binding protein;Transport/cargo protein	BrainSpLMD|10165;Eurexp|euxassay_006704|adrenal gland, choroid invagination, choroid plexus, cortex, incisor, left lung, liver, midgut, olfactory, orbito-sphenoid, pancreas, rectum, right lung, stomach, submandibular gland primordium, thymus primordium, thyroid, ventricle, ventricular layer, vibrissa	OMIM|603859;HPO|10165|Autosomal recessive inheritance, Cerebral edema, Cirrhosis, Coma, Confusion, Decreased circulating high-density lipoprotein levels, Elevated hepatic transaminases, Elevated plasma citrulline, Failure to thrive, Growth delay, Hepatic steatosis, Hepatocellular carcinoma, Hyperammonemia, Hyperbilirubinemia, Hypercholesterolemia, Hypermethioninemia, Hypertriglyceridemia, Intrahepatic cholestasis, Pancreatitis
RG-div2	CENPV	0.321547457	6.39E-06	DNA binding protein	BrainSpLMD|201161	OMIM|608139
RG-div2	ZNF37BP	0.419999301	6.43E-06		BrainSpLMD|100129482	
RG-div2	DUSP3	0.380937261	6.55E-06	Dual specificity phosphatase	BrainSpLMD|1845;Eurexp|euxassay_001212|glossopharyngeal IX, vagus X	OMIM|600183
RG-div2	C8orf33	0.613098582	6.58E-06	Unclassified	BrainSpLMD|65265	
RG-div2	GNA12	0.725563844	6.71E-06	G protein	BrainSpLMD|2768	OMIM|604394
RG-div2	ECH1	0.525511626	6.82E-06	Enzyme: Hydratase	BrainSpLMD|1891	OMIM|600696
RG-div2	PRPSAP1	0.59629286	6.93E-06	Regulatory/other subunit	BrainSpLMD|5635	OMIM|601249
RG-div2	CEP112	1.089689867	6.97E-06	Unclassified	BrainSpLMD|201134	
RG-div2	ANXA7	0.437058894	7.05E-06	Calcium binding protein	BrainSpLMD|310	OMIM|186360
RG-div2	CCNB2	0.745706779	7.22E-06	Cell cycle control protein	BrainSpLMD|9133;Eurexp|euxassay_004323|axial muscle, ventricular layer	OMIM|602755
RG-div2	CCDC47	0.599487119	7.23E-06	Unclassified	BrainSpLMD|57003;Eurexp|euxassay_000833|submandibular gland primordium	
RG-div2	TWISTNB	0.568773944	7.39E-06	Transcription factor	BrainSpLMD|221830	OMIM|608312
RG-div2	AAMP	0.802324982	7.39E-06	Adhesion molecule	BrainSpLMD|14	OMIM|603488
RG-div2	PIK3CB	0.446672142	7.43E-06	Lipid Kinase	BrainSpLMD|5291;BrainSpMouseDev|50610	OMIM|602925;COSMIC||SCC, NSCLC
RG-div2	GPN3	0.575531823	7.58E-06	Unclassified	BrainSpLMD|51184	
RG-div2	MNS1	0.592754501	7.61E-06	Structural protein	BrainSpLMD|55329	OMIM|610766
RG-div2	CHKA	0.847771714	7.63E-06	Lipid Kinase	BrainSpLMD|1119	OMIM|118491
RG-div2	SUMO2P17	1.173112226	7.65E-06			
RG-div2	MBNL1	0.565094878	7.69E-06	RNA binding protein	BrainSpLMD|4154	OMIM|606516
RG-div2	PDGFC	0.317737964	7.76E-06	Growth factor	BrainSpLMD|56034;Eurexp|euxassay_003799|choroid plexus, cochlea, cochlear duct, cortex, epithelium, fundus region, gland, head mesenchyme, hindgut, left lung, loop, marginal layer, mesenchyme, midgut, naris, oesophagus, olfactory, penis, pharyngo-tympanic tube, rectum, respiratory, right lung, skeletal muscle, stomach, submandibular gland primordium, tongue, urethra, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|33926	OMIM|608452
RG-div2	TRMT10C	0.452382168	7.80E-06	RNA methyltransferase	BrainSpLMD|54931;Eurexp|euxassay_006517|calyces, dermis, epidermis, hyoid bone, incisor, lung, mantle layer, marginal layer, molar, phalanx, submandibular gland primordium, tegmentum, temporal bone, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|615423;HPO|54931|Autosomal recessive inheritance, Congenital onset, Decreased liver function, Elevated hepatic transaminases, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Hyperalaninemia, Increased CSF lactate, Increased serum lactate, Lactic acidosis
RG-div2	TALDO1	0.321644206	8.00E-06	Enzyme: Transaldolase	BrainSpLMD|6888	OMIM|602063;HPO|6888|Abnormal facial shape, Abnormality of glutamine metabolism, Abnormality of the clitoris, Abnormality of the kidney, Anemia, Asthma, Autosomal recessive inheritance, Cirrhosis, Clitoral hypertrophy, Coarctation of aorta, Decreased liver function, Deep philtrum, Depressed nasal bridge, Failure to thrive, Hepatic fibrosis, Hepatomegaly, Hepatosplenomegaly, Hydrops fetalis, Increased serum bile acid concentration, Intrauterine growth retardation, Low-set ears, Micronodular cirrhosis, Oligohydramnios, Pancytopenia, Patent ductus arteriosus, Patent foramen ovale, Poor suck, Premature skin wrinkling, Short philtrum, Small for gestational age, Splenomegaly, Synophrys, Telangiectasia, Thin vermilion border, Thrombocytopenia, Triangular face, Ventricular septal defect, Wide anterior fontanel, Wide mouth
RG-div2	ITGAV	0.359622339	8.14E-06	Cell surface receptor	BrainSpLMD|3685;Eurexp|euxassay_009584|brain, calyces, incisor, mandible, maxilla, mesenchyme, midgut, molar, spinal cord, stomach, submandibular gland primordium, ventricular layer;BrainSpMouseDev|16183	OMIM|193210;COSMIC||large intestine carcinoma
RG-div2	MYO6	0.623649986	8.24E-06	Motor protein	BrainSpLMD|4646	OMIM|600970;HPO|4646|Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment
RG-div2	GART	0.317199916	8.37E-06	Enzyme: Transferase	BrainSpLMD|2618	OMIM|138440
RG-div2	ZNF718	0.591292902	8.37E-06	Unclassified	BrainSpLMD|255403	
RG-div2	STRA13	0.776580361	8.43E-06			
RG-div2	TOP3A	0.529425946	8.44E-06	Enzyme: Topoisomerase	BrainSpLMD|7156	OMIM|601243
RG-div2	ADIPOR2	0.558927758	8.44E-06	Integral membrane protein	BrainSpLMD|79602;Eurexp|euxassay_001439|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X	OMIM|607946
RG-div2	ARSB	0.434383812	8.49E-06	Enzyme: Sulphatase	BrainSpLMD|411	OMIM|611542;HPO|411|Abnormality of the heart valves, Anterior wedging of L1, Anterior wedging of L2, Autosomal recessive inheritance, Broad ribs, Cardiomyopathy, Cervical myelopathy, Coarse facial features, Constrictive median neuropathy, Depressed nasal bridge, Dermatan sulfate excretion in urine, Disproportionate short-trunk short stature, Dolichocephaly, Dysostosis multiplex, Epiphyseal dysplasia, Flared iliac wings, Genu valgum, Glaucoma, Hearing impairment, Hepatomegaly, Hip dysplasia, Hirsutism, Hydrocephalus, Hypoplasia of the odontoid process, Hypoplastic acetabulae, Hypoplastic iliac wing, Inguinal hernia, Joint stiffness, Lumbar hyperlordosis, Macrocephaly, Macroglossia, Metaphyseal irregularity, Metaphyseal widening, Opacification of the corneal stroma, Ovoid vertebral bodies, Prominent sternum, Recurrent upper respiratory tract infections, Splenomegaly, Split hand, Umbilical hernia
RG-div2	NCAM2	0.514663867	8.54E-06	Adhesion molecule	BrainSpLMD|4685;BrainSpMouseDev|17735	OMIM|602040
RG-div2	TFIP11	0.731152758	8.58E-06	Extracellular matrix protein	BrainSpLMD|24144;Eurexp|euxassay_005104|brain, cervical, cervico-thoracic, dorsal root ganglion, incisor, metanephros, molar, naris, nasal septum, olfactory, respiratory, retina, spinal cord, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|612747
RG-div2	CPNE3	0.298839091	9.07E-06	Transport/cargo protein	BrainSpLMD|8895	OMIM|604207
RG-div2	CAT	0.669687328	9.16E-06	Enzyme: Oxidoreductase	BrainSpLMD|847	OMIM|115500;HPO|847|Autosomal recessive inheritance, Oral ulcer, Reduced catalase activity
RG-div2	STXBP3	0.277171332	9.24E-06	Transport/cargo protein	BrainSpLMD|6814	OMIM|608339
RG-div2	TAF9B	0.612468582	9.61E-06	Transcription regulatory protein	BrainSpLMD|51616	OMIM|300754
RG-div2	TMEM65	1.05447825	9.76E-06	Integral membrane protein	BrainSpLMD|157378	OMIM|616609
RG-div2	KIF13A	0.608885044	9.82E-06	Motor protein	BrainSpLMD|63971;Eurexp|euxassay_011388|anterior, bladder, dorsal root ganglion, external, facial VII, incisor, left lung, mantle layer, molar, naso-lacrimal duct, oral epithelium, pharyngo-tympanic tube, right lung, submandibular gland primordium, urethra	OMIM|605433
RG-div2	CXXC5	0.524725847	9.89E-06	DNA binding protein	BrainSpLMD|51523	OMIM|612752
RG-div2	GPANK1	0.551377641	9.97E-06	Unclassified	BrainSpLMD|7918	OMIM|142610
RG-div2	SNHG15	0.636079847	1.01E-05			
RG-div2	SNRPEP4	0.41931845	1.03E-05			
RG-div2	HMCES	1.224887611	1.04E-05	Unclassified	BrainSpLMD|56941	
RG-div2	KIF14	0.371368304	1.08E-05	Motor protein	BrainSpLMD|9928	OMIM|611279;HPO|9928|Agenesis of corpus callosum, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral hypoplasia, Intrauterine growth retardation, Microcephaly, Oligohydramnios, Renal agenesis, Renal hypoplasia, Rocker bottom foot, Sloping forehead
RG-div2	CCDC167	0.455759696	1.10E-05	Unclassified		
RG-div2	MUT	0.639168784	1.10E-05	Enzyme: Mutase	BrainSpLMD|4594	OMIM|609058;HPO|4594|Abnormality of the globus pallidus, Anorexia, Autosomal recessive inheritance, Cardiomyopathy, Coma, Dehydration, Delayed CNS myelination, Dysarthria, Dystonia, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Growth delay, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Immunodeficiency, Intellectual disability, Lethargy, Leukopenia, Metabolic ketoacidosis, Methylmalonic acidemia, Methylmalonic aciduria, Muscular hypotonia, Nausea and vomiting, Pancreatitis, Respiratory distress, Splenomegaly, Stage 5 chronic kidney disease, Thrombocytopenia, Tubulointerstitial nephritis, Vomiting
RG-div2	SPAG7	0.537290386	1.10E-05	Unclassified	BrainSpLMD|9552	OMIM|610056
RG-div2	CNTN3	0.706295425	1.13E-05	Immunoglobulin	Eurexp|euxassay_009023|mantle layer, marginal layer, ventral grey horn;BrainSpMouseDev|18254	SFARI||Autism, No category;OMIM|601325
RG-div2	PSMD11	0.268108955	1.16E-05	Ubiquitin proteasome system protein	BrainSpLMD|5717	OMIM|604449
RG-div2	PSMB2	0.450014388	1.18E-05	Ubiquitin proteasome system protein	BrainSpLMD|5690;Eurexp|euxassay_004563|nucleus pulposus	OMIM|602175
RG-div2	NUP153	0.610668541	1.18E-05	Transport/cargo protein	BrainSpLMD|9972	OMIM|603948
RG-div2	CAPZB	0.33425146	1.18E-05	Cytoskeletal protein	BrainSpLMD|832;Eurexp|euxassay_011596|thymus primordium, thyroid	OMIM|601572
RG-div2	PHB	0.530479725	1.18E-05	Adapter molecule	BrainSpLMD|5245	SFARI||Autism, 3 - Suggestive evidence;OMIM|176705
RG-div2	HIST1H1E	0.61474403	1.19E-05	DNA binding protein	BrainSpLMD|3008;Eurexp|euxassay_005923|embryo	OMIM|142220;HPO|3008|Accelerated skeletal maturation, Amblyopia, Astigmatism, Autosomal dominant inheritance, Camptodactyly, Full cheeks, Global developmental delay, Hypertonia, Intellectual disability, Kyphoscoliosis, Macrocephaly, Neonatal hypotonia, Nevus, Strabismus, Talipes equinovarus, Telecanthus
RG-div2	SHC3	0.776331045	1.19E-05	Adapter molecule	BrainSpLMD|53358;Eurexp|euxassay_009466|cochlear duct, ventral grey horn, ventricular layer	OMIM|605263
RG-div2	AC011043.1	0.294953817	1.22E-05			
RG-div2	FGFR2	0.463887185	1.23E-05	Receptor tyrosine kinase	BrainSpLMD|2263;BrainSpMouseDev|13960	OMIM|176943;COSMIC||gastric, NSCLC, endometrial, Crouzon, Pfeiffer, and Apert syndromes;HPO|2263|2-3 finger syndactyly, 2-3 toe syndactyly, Abnormal facial shape, Abnormal heart morphology, Abnormal morphology of the limbic system, Abnormal renal morphology, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the cervical spine, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the palate, Abnormality of the pancreas, Abnormality of the periosteum, Abnormality of the pinna, Abnormality of the ribs, Absence of Stensen duct, Absent first metatarsal, Absent lacrimal punctum, Absent proximal phalanx of thumb, Absent radius, Absent septum pellucidum, Acanthosis nigricans, Acne, Acrobrachycephaly, Agenesis of corpus callosum, Alacrima, Anomalous tracheal cartilage, Anteriorly placed anus, Anteverted nares, Aplasia of the parotid gland, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Arachnodactyly, Arachnoid cyst, Arnold-Chiari malformation, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bicoronal synostosis, Bifid scrotum, Bifid uvula, Bilateral single transverse palmar creases, Bilateral triphalangeal thumbs, Blepharospasm, Brachycephaly, Brachydactyly, Brachyturricephaly, Breast carcinoma, Broad distal hallux, Broad distal phalanx of the thumb, Broad forehead, Broad hallux, Broad hallux phalanx, Broad metatarsal, Broad thumb, Bronchomalacia, Buphthalmos, Calcaneonavicular fusion, Camptodactyly, Camptodactyly of finger, Carious teeth, Cartilaginous trachea, Cerebellar hypoplasia, Cervical C5/C6 vertebrae fusion, Choanal atresia, Choanal stenosis, Chronic otitis media, Cleft of chin, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Cloverleaf skull, Conductive hearing impairment, Congenital stationary night blindness, Conical incisor, Conjunctivitis, Convex nasal ridge, Corneal perforation, Coronal craniosynostosis, Coronal hypospadias, Craniofacial dysostosis, Craniosynostosis, Cryptorchidism, Cupped ear, Cutaneous finger syndactyly, Dacryocystitis, Decreased calvarial ossification, Delayed cranial suture closure, Delayed eruption of primary teeth, Delayed eruption of teeth, Dental crowding, Dental malocclusion, Depressed nasal bridge, Deviation of the thumb, Dolichocephaly, Downslanted palpebral fissures, Dysgerminoma, Ectopic anus, Elbow ankylosis, Esophageal atresia, External ear malformation, Extramedullary hematopoiesis, Facial asymmetry, Feeding difficulties in infancy, Femoral bowing, Finger syndactyly, Flat face, Flat forehead, Frontal bossing, Fused labia minora, Gingival overgrowth, Global developmental delay, Growth abnormality, Hallux valgus, Hallux varus, Hearing abnormality, Hearing impairment, High forehead, High palate, Hirsutism, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hyperextensible skin, Hyperlordosis, Hypertelorism, Hypertension, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the lacrimal puncta, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplasia of the zygomatic bone, Hypoplastic ischia, Hypoplastic labia majora, Hypoplastic lacrimal duct, Incomplete ossification of pubis, Increased intracranial pressure, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Joint stiffness, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Lambdoidal craniosynostosis, Large fontanelles, Laryngomalacia, Limitation of joint mobility, Limited elbow extension, Long nose, Long philtrum, Low anterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Malar flattening, Mandibular prognathia, Megalencephaly, Megalocornea, Melanocytic nevus, Metopic depression, Micrognathia, Microtia, Midface retrusion, Mixed hearing impairment, Morphological abnormality of the semicircular canal, Multiple suture craniosynostosis, Narrow chest, Narrow internal auditory canal, Narrow nose, Narrow palate, Narrow pelvis bone, Nasolacrimal duct obstruction, Natal tooth, Nephrosclerosis, Open bite, Optic atrophy, Osteopenia, Overfolding of the superior helices, Overriding aorta, Oxycephaly, Palmoplantar cutis gyrata, Palmoplantar cutis laxa, Palmoplantar keratoderma, Parietal foramina, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of the distal phalanx of the 3rd finger, Partial duplication of thumb phalanx, Periorbital fullness, Plagiocephaly, Posterior fossa cyst, Preauricular skin furrow, Preaxial polydactyly, Prominent crus of helix, Prominent nasal bridge, Prominent scrotal raphe, Proptosis, Ptosis, Pyloric stenosis, Radial deviation of the 3rd finger, Radioulnar synostosis, Recurrent corneal erosions, Reduced number of teeth, Renal agenesis, Respiratory distress, Rocker bottom foot, Sagittal craniosynostosis, Seizures, Shallow orbits, Short clavicles, Short foot, Short hallux, Short metatarsal, Short middle phalanx of toe, Short nose, Short palm, Short stature, Shortening of all middle phalanges of the fingers, Skull asymmetry, Sleep apnea, Small hand, Small nail, Small thenar eminence, Somatic mutation, Steep acetabular roof, Stenosis of the external auditory canal, Stomach cancer, Strabismus, Subcutaneous nodule, Syndactyly, Synostosis of carpal bones, Telecanthus, Toe syndactyly, Tracheomalacia, Turricephaly, Ulnar bowing, Underdeveloped supraorbital ridges, Upper airway obstruction, Vaginal atresia, Variable expressivity, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide anterior fontanel, Xerostomia
RG-div2	C10orf32	0.360335804	1.24E-05			
RG-div2	PITPNA	0.610676532	1.26E-05	Transport/cargo protein	BrainSpLMD|5306	OMIM|600174
RG-div2	SLC25A1	0.445740159	1.26E-05	Transport/cargo protein	BrainSpLMD|6576;Eurexp|euxassay_007829|cervical, cervico-thoracic, clavicle, left, loop, mantle layer, right, submandibular gland primordium, thoracic, trigeminal V, ventral grey horn	OMIM|190315;HPO|6576|Autosomal recessive inheritance, Cerebellar hypoplasia, Delayed myelination, Dyspnea, Encephalopathy, Feeding difficulties, Global developmental delay, Irritability, L-2-hydroxyglutaric aciduria, Poor eye contact, Respiratory insufficiency, Seizures, Severe muscular hypotonia, Stridor, Ventriculomegaly
RG-div2	USP25	0.36130889	1.27E-05	Ubiquitin proteasome system protein	BrainSpLMD|29761;Eurexp|euxassay_005253|dorsal root ganglion, liver, naris, olfactory, respiratory, submandibular gland primordium, thymus primordium, trigeminal V	OMIM|604736
RG-div2	FXYD6	0.30702601	1.28E-05	Ion channel	BrainSpLMD|53826;Eurexp|euxassay_005187|brain, cervical, cervico-thoracic, cortex, facial VII, spinal cord, thoracic, trigeminal V, vagus X, valve, vestibulocochlear VIII;BrainSpMouseDev|37655	OMIM|606683
RG-div2	SPRED2	0.334631161	1.31E-05	Unclassified	BrainSpLMD|200734	OMIM|609292
RG-div2	NEIL2	0.549614045	1.33E-05	DNA repair protein	BrainSpLMD|252969	OMIM|608933
RG-div2	EIF5A	0.461561256	1.34E-05	Translation Factor	BrainSpLMD|1984	OMIM|600187
RG-div2	ANKHD1	0.632644921	1.36E-05	Unclassified		OMIM|610500
RG-div2	KIAA0196	0.253630401	1.36E-05			
RG-div2	RPP30	0.534793274	1.40E-05	Ribonuclease	BrainSpLMD|10556;Eurexp|euxassay_006550|liver, lung, metanephros, olfactory, pancreas, primitive seminiferous tubules, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|606115
RG-div2	IPO9	0.341688729	1.40E-05	Transport/cargo protein	BrainSpLMD|55705	
RG-div2	TGIF1	1.189964709	1.41E-05	Transcription factor	BrainSpLMD|7050;Eurexp|euxassay_007804|cortex, fundus region, hindgut, lung, midgut, oesophagus, rectum, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|21574	OMIM|602630;HPO|7050|Absent nasal septal cartilage, Autosomal dominant inheritance, Depressed nasal bridge, Depressed nasal tip, Hypotelorism, Median cleft lip, Median cleft lip and palate, Ptosis, Semilobar holoprosencephaly
RG-div2	ITGB1	0.394976374	1.42E-05	Cell surface receptor	BrainSpLMD|3688;Eurexp|euxassay_010970|aorta, bladder, clavicle, floor plate, floorplate, lung, mandible, maxilla, midgut, oesophagus, orbito-sphenoid, rib, stomach, submandibular gland primordium;BrainSpMouseDev|16185	OMIM|135630
RG-div2	CYB5B	0.633036943	1.43E-05	Transport/cargo protein	BrainSpLMD|80777;Eurexp|euxassay_010042|adrenal gland, axial muscle, cortex, lung, mandible, maxilla, midgut, neural retina, orbito-sphenoid, pancreas, wall	OMIM|611964
RG-div2	HIPK1	0.457048139	1.47E-05	Serine/threonine kinase	BrainSpLMD|204851	OMIM|608003
RG-div2	FAM21C	0.419648072	1.47E-05			
RG-div2	BIRC2	0.266291912	1.49E-05	Adapter molecule	BrainSpLMD|329;Eurexp|euxassay_013954|thymus primordium, ventricular layer	OMIM|601712
RG-div2	C21orf33	0.602128722	1.52E-05	Unclassified	BrainSpLMD|8209;Eurexp|euxassay_005073|thymus primordium, trigeminal V, ventricular layer	OMIM|601659
RG-div2	PSMC2	0.506145566	1.63E-05	Ubiquitin proteasome system protein	BrainSpLMD|5701	OMIM|154365
RG-div2	VPS13A	0.895115441	1.63E-05	Transport/cargo protein	BrainSpLMD|23230;Eurexp|euxassay_008591|thymus primordium	OMIM|605978;HPO|23230|Abnormal bleeding, Abnormal urinary color, Abnormality of vision, Acanthocytosis, Aggressive behavior, Anxiety, Areflexia, Ataxia, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Caudate atrophy, Cerebral cortical atrophy, Chorea, Death in early adulthood, Developmental regression, Difficulty in tongue movements, Disinhibition, Distal upper limb muscle weakness, Drooling, Dysarthria, Dysgraphia, Dysphagia, Dystonia, EMG abnormality, Elevated serum creatine phosphokinase, Fatigue, Gait disturbance, Hyporeflexia, Limb muscle weakness, Memory impairment, Mood changes, Muscle fiber atrophy, Muscular hypotonia, Myopathy, Orofacial dyskinesia, Pallor, Parkinsonism, Peripheral neuropathy, Personality changes, Pes cavus, Progressive, Progressive choreoathetosis, Progressive distal muscular atrophy, Protruding tongue, Psychosis, Seizures, Self-mutilation of tongue and lips due to involuntary movements, Sensory neuropathy, Skeletal muscle atrophy, Tics, Tremor, Ventriculomegaly
RG-div2	NDUFA2	0.325283853	1.71E-05	Enzyme: Oxidoreductase	BrainSpLMD|4695	OMIM|602137;HPO|4695|Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
RG-div2	HNRNPA3P6	0.534991452	1.72E-05			
RG-div2	RBMXP2	0.547503422	1.72E-05			
RG-div2	RAD1	0.325844491	1.77E-05	DNA exonuclease	BrainSpLMD|5810;Eurexp|euxassay_012280|ventricular layer	OMIM|603153
RG-div2	ARHGAP11A	0.863612613	1.78E-05	GTPase activating protein	BrainSpLMD|9824;Eurexp|euxassay_018145|excretory component, hindgut, incisor, mantle layer, marginal layer, meninges, midgut, molar, neural retina, olfactory, stomach, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|610589
RG-div2	MRPL13	0.318329221	1.83E-05	Ribosomal subunit	BrainSpLMD|28998;Eurexp|euxassay_003941|submandibular gland primordium, ventricular layer	OMIM|610200
RG-div2	HNRNPM	0.762332637	1.84E-05	Ribonucleoprotein	BrainSpLMD|4670	OMIM|160994
RG-div2	PSPH	0.565783478	1.84E-05	Serine/threonine phosphatase	BrainSpLMD|5723;Eurexp|euxassay_007810|calyces, left, right, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|172480;HPO|5723|Autosomal recessive inheritance, Global developmental delay, Hypertonia, Infantile onset, Intellectual disability, Intrauterine growth retardation, Postnatal growth retardation, Seizures
RG-div2	MPP5	0.853780551	1.86E-05	Unclassified	BrainSpLMD|64398	OMIM|606958
RG-div2	IFT57	0.894515628	1.87E-05	Unclassified	BrainSpLMD|55081	OMIM|606621
RG-div2	ACTR3B	0.771846041	1.90E-05	Cytoskeletal associated protein	BrainSpLMD|57180;Eurexp|euxassay_004135|olfactory lobe, ventricular layer	
RG-div2	NPC2	0.486154249	1.92E-05	Transport/cargo protein	BrainSpLMD|10577;Eurexp|euxassay_001964|cervical, cervico-thoracic, left lung, mantle layer, marginal layer, right lung, stomach, thoracic, trachea, ventral grey horn, ventricular layer	OMIM|601015;HPO|10577|Abnormal cholesterol homeostasis, Ataxia, Autosomal recessive inheritance, Bone-marrow foam cells, Cataplexy, Dementia, Dysarthria, Dysphagia, Dystonia, Fetal ascites, Foam cells in visceral organs and CNS, Generalized hypotonia, Global developmental delay, Hepatomegaly, Heterogeneous, Intellectual disability, Loss of speech, Low cholesterol esterification rates, Neurofibrillary tangles, Onset, Perseveration, Prolonged neonatal jaundice, Psychosis, Respiratory failure, Sea-blue histiocytosis, Seizures, Spasticity, Splenomegaly, Stereotypy, Vertical supranuclear gaze palsy
RG-div2	NUDT19	0.357117204	1.95E-05	Unclassified	Eurexp|euxassay_008589|hindgut, left, midgut, pancreas, right	
RG-div2	TMEM237	0.568143813	2.00E-05	Unclassified	BrainSpLMD|65062	OMIM|614423;HPO|65062|Apnea, Ataxia, Autistic behavior, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Coloboma, Dandy-Walker malformation, Deeply set eye, Downslanted palpebral fissures, Encephalocele, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, High forehead, Highly arched eyebrow, Hydrocephalus, Hypertelorism, Hypertension, Intellectual disability, Intellectual disability, severe, Iris coloboma, Irritability, Long face, Low-set ears, Low-set, posteriorly rotated ears, Malar flattening, Microphthalmia, Molar tooth sign on MRI, Morning glory anomaly, Muscular hypotonia, Nephropathy, Nystagmus, Oculomotor apraxia, Open mouth, Postaxial polydactyly, Posteriorly rotated ears, Prominent nasal bridge, Ptosis, Renal cyst, Retinal dystrophy, Short philtrum, Strabismus, Tachypnea, Tented upper lip vermilion
RG-div2	MIB1	0.372395177	2.01E-05	Ubiquitin proteasome system protein	BrainSpLMD|57534;Eurexp|euxassay_013905|glossopharyngeal IX, mantle layer, molar, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|86214	SFARI||Autism, 4 - Minimal evidence;OMIM|608677;HPO|57534|Autosomal dominant inheritance, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy
RG-div2	SCCPDH	0.484759096	2.05E-05	Unclassified	BrainSpLMD|51097;BrainSpMouseDev|73391	
RG-div2	TLN1	0.265157604	2.10E-05	Cytoskeletal associated protein	BrainSpLMD|7094;Eurexp|euxassay_011794|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	OMIM|186745
RG-div2	KLHL23	0.56922645	2.10E-05	Cytoskeletal associated protein	BrainSpLMD|151230;Eurexp|euxassay_008410|embryo	
RG-div2	ETFA	0.392283118	2.10E-05	Membrane transport protein	BrainSpLMD|2108;Eurexp|euxassay_002051|thymus primordium, ventricular layer	OMIM|608053;HPO|2108|Abnormal facial shape, Abnormality of the genital system, Abnormality of the pinna, Autosomal recessive inheritance, Congenital cataract, Defective dehydrogenation of isovaleryl CoA and butyryl CoA, Depressed nasal bridge, Electron transfer flavoprotein-ubiquinone oxidoreductase defect, Ethylmalonic aciduria, Generalized aminoaciduria, Gliosis, Glutaric acidemia, Glutaric aciduria, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, High forehead, Hypoglycemia, Hypoglycemic coma, Jaundice, Macrocephaly, Muscle weakness, Muscular hypotonia, Nausea, Neonatal death, Pachygyria, Polycystic kidney dysplasia, Proximal tubulopathy, Pulmonary hypoplasia, Renal cortical cysts, Respiratory distress, Telecanthus, Vomiting, Wide anterior fontanel
RG-div2	PPP2R3C	0.45807019	2.12E-05	Calcium binding protein	BrainSpLMD|55012	OMIM|615902
RG-div2	PTP4A2	0.271779411	2.14E-05	Tyrosine phosphatase	BrainSpLMD|8073;Eurexp|euxassay_007473|embryo	OMIM|601584
RG-div2	HERPUD2	0.29092115	2.19E-05	Unclassified	BrainSpLMD|64224	
RG-div2	MRPS27	0.380383476	2.20E-05	Ribosomal subunit	BrainSpLMD|23107;Eurexp|euxassay_019261|adrenal gland, axial muscle, cervical, cervico-thoracic, dorsal root ganglion, embryo, facial VII, glossopharyngeal IX, incisor, liver, lung, mantle layer, marginal layer, metanephros, midgut, molar, neural retina, olfactory, pancreas, pharyngo-tympanic tube, pituitary, stomach, submandibular gland primordium, testis, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|611989
RG-div2	ERI3	0.396588868	2.22E-05	Unclassified	BrainSpLMD|79033	OMIM|609917
RG-div2	JPX	0.276188356	2.23E-05		BrainSpLMD|554203	OMIM|300832
RG-div2	MVD	0.888069793	2.23E-05	Enzyme: Decarboxylase	BrainSpLMD|4597	OMIM|603236;HPO|4597|Autosomal dominant inheritance, Cutaneous photosensitivity, Porokeratosis
RG-div2	MDC1	0.288874529	2.24E-05	DNA repair protein	BrainSpLMD|9656;Eurexp|euxassay_014183|olfactory lobe, ventricular layer	OMIM|607593
RG-div2	EEA1	0.401727875	2.25E-05	Membrane transport protein	BrainSpLMD|8411	OMIM|605070
RG-div2	TMEM30A	0.472142388	2.30E-05	Integral membrane protein	BrainSpLMD|55754	OMIM|611028
RG-div2	ATXN7L3B	0.275695047	2.30E-05	-	BrainSpLMD|552889	OMIM|615579
RG-div2	PIGX	0.499464402	2.31E-05	Unclassified	BrainSpLMD|54965	OMIM|610276
RG-div2	GPATCH11	0.3089336	2.31E-05	RNA binding protein	BrainSpLMD|253635	
RG-div2	UTP20	0.352527478	2.42E-05	Unclassified	BrainSpLMD|27340	OMIM|612822
RG-div2	FAM135A	0.39612771	2.44E-05	Unclassified	BrainSpLMD|57579	
RG-div2	TFG	0.650034182	2.49E-05	Enzyme regulator	BrainSpLMD|10342	OMIM|602498;COSMIC||papillary thyroid, ALCL, NSCLC, extraskeletal myxoid chondrosarcoma;HPO|10342|Abnormal myelination, Abnormality of peripheral nerve conduction, Abnormality of the Achilles tendon, Adult onset, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Difficulty climbing stairs, Difficulty standing, Distal lower limb amyotrophy, Distal sensory impairment, Fasciculations, Gait disturbance, Gliosis, Hyperlipidemia, Hyperreflexia, Inability to walk, Mildly elevated creatine phosphokinase, Motor polyneuropathy, Optic atrophy, Peripheral neuropathy, Proximal amyotrophy, Proximal muscle weakness, Sensorimotor neuropathy, Sensory neuropathy, Slow progression, Spastic paraplegia, Tetraplegia, Visual loss
RG-div2	CYB5R3	0.307204444	2.52E-05	Enzyme: Reductase	BrainSpLMD|1727	OMIM|613213;HPO|1727|Autosomal recessive inheritance, Cyanosis, Exertional dyspnea, Global developmental delay, Growth delay, Headache, Hypertonia, Intellectual disability, Methemoglobinemia, Microcephaly, Opisthotonus, Polycythemia, Strabismus
RG-div2	ZNF626	0.816568933	2.58E-05	DNA binding protein		SFARI||Autism, 4 - Minimal evidence
RG-div2	ZNF609	0.444189928	2.63E-05	Unclassified		OMIM|617474
RG-div2	KDM3B	0.458344836	2.63E-05	Unclassified	BrainSpLMD|51780	OMIM|609373
RG-div2	TIMM23	0.256303012	2.64E-05			OMIM|605034
RG-div2	SRP54	0.478518325	2.65E-05	RNA binding protein	BrainSpLMD|6729;Eurexp|euxassay_013249|embryo	OMIM|604857
RG-div2	RYK	0.438150295	2.65E-05	Receptor tyrosine kinase	BrainSpLMD|6259;BrainSpMouseDev|19950	OMIM|600524
RG-div2	DZIP1	0.495383896	2.65E-05	Unclassified	BrainSpLMD|22873;Eurexp|euxassay_006918|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, organ system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|608671
RG-div2	HSD17B4	0.402151963	2.75E-05	Enzyme: Dehydrogenase	BrainSpLMD|3295;Eurexp|euxassay_011373|lip, phalanx, ventricular layer, vibrissa	OMIM|601860;HPO|3295|Abnormal facial shape, Aplasia/Hypoplasia of the cerebellum, Autosomal recessive inheritance, Bile duct proliferation, Calcific stippling, Cerebral dysmyelination, Cholestasis, Corpus callosum atrophy, Cortical dysplasia, Decreased muscle mass, Delayed cranial suture closure, Delayed skeletal maturation, Depressed nasal bridge, Elevated hepatic transaminases, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Fetal ascites, Frontal bossing, Gait ataxia, Generalized cerebral atrophy/hypoplasia, Gliosis, Global developmental delay, Gonadal dysgenesis, Hammertoe, Hepatic steatosis, Hepatomegaly, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Increased circulating gonadotropin level, Infantile onset, Large fontanelles, Limited extraocular movements, Long philtrum, Low-set ears, Macrocephaly, Micrognathia, Neonatal hypotonia, Nystagmus, Osteopenia, Osteoporosis, Pectus excavatum, Pes cavus, Phenotypic variability, Polyhydramnios, Polymicrogyria, Primary adrenal insufficiency, Primary amenorrhea, Renal cyst, Retrognathia, Scaphocephaly, Scoliosis, Seizures, Sensorineural hearing impairment, Short stature, Split hand, Strabismus, Talipes equinovarus, Thoracic hypoplasia, Undetectable electroretinogram, Upslanted palpebral fissure, Ventriculomegaly, Visual impairment, Visual loss
RG-div2	RPSAP15	0.595697923	2.76E-05			
RG-div2	NUDC	0.574548181	2.76E-05	Cell cycle control protein	BrainSpLMD|10726	OMIM|610325
RG-div2	C8orf59	0.66916025	2.77E-05	Unclassified	BrainSpLMD|401466	
RG-div2	NCAPD3	0.272923152	2.79E-05	Unclassified	BrainSpLMD|23310	OMIM|609276
RG-div2	NEK3	0.800370994	2.80E-05	Serine/threonine kinase	BrainSpLMD|4752	OMIM|604044
RG-div2	FLRT3	0.72829698	2.81E-05	Adhesion molecule	BrainSpLMD|23767;Eurexp|euxassay_006295|axial skeleton, bladder, eyelid, incisor, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, molar, pharyngo-tympanic tube, physiological umbilical hernia, pituitary, submandibular gland primordium, ventricular layer, vibrissa	OMIM|604808;HPO|23767|Abnormality of the voice, Anosmia, Anterior hypopituitarism, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Delayed puberty, Erectile abnormalities, Gynecomastia, Hypogonadotrophic hypogonadism, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Primary amenorrhea, Reduced bone mineral density, Sparse axillary hair, Sparse pubic hair
RG-div2	FAT4	0.543326094	2.88E-05	Adhesion molecule	BrainSpLMD|79633	OMIM|612411;COSMIC||lymphoma, pancreatic, head and neck, melanoma, hepatocellular carcinoma, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2;HPO|79633|Atresia of the external auditory canal, Autosomal recessive inheritance, Bifid scrotum, Blepharophimosis, Clinodactyly, Conductive hearing impairment, Congenital onset, Cryptorchidism, Cutaneous finger syndactyly, Dental malocclusion, Downturned corners of mouth, Epicanthus, Feeding difficulties, Generalized hypotonia, Growth delay, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypospadias, Intellectual disability, Irregular dentition, Joint laxity, Malar flattening, Micrognathia, Micropenis, Microtia, Midface retrusion, Narrow chest, Narrow forehead, Osteopenia, Ptosis, Renal hypoplasia, Sacral dimple, Scoliosis, Sensorineural hearing impairment, Short 4th metacarpal, Short clavicles, Short fourth metatarsal, Short palpebral fissure, Skeletal dysplasia, Talipes equinovarus, Tented upper lip vermilion, Tracheomalacia, Wide anterior fontanel, Wide cranial sutures, Wide nasal bridge
RG-div2	NUP188	0.553134109	2.91E-05	Unclassified		OMIM|615587
RG-div2	XRCC1	0.739145085	2.94E-05	DNA repair protein	BrainSpLMD|7515	OMIM|194360
RG-div2	AAED1	0.471875572	3.01E-05	Unclassified		
RG-div2	IFT43	0.458852462	3.07E-05	Unclassified	BrainSpLMD|112752	OMIM|614068;HPO|112752|Abnormal diaphysis morphology, Abnormal toenail morphology, Abnormality of the fingernails, Abnormality of the metaphysis, Anteverted nares, Autosomal recessive inheritance, Brachydactyly, Broad nail, Craniosynostosis, Cutis laxa, Dolichocephaly, Dry skin, Ectodermal dysplasia, Epicanthus, Everted lower lip vermilion, Fine hair, Finger syndactyly, Frontal bossing, Hypodontia, Hypoplasia of teeth, Hypotelorism, Joint hyperflexibility, Joint laxity, Microdontia, Narrow chest, Nephronophthisis, Osteoporosis, Pectus excavatum, Prominent occiput, Rhizomelia, Short distal phalanx of finger, Short nail, Short stature, Sparse hair, Syndactyly, Widely spaced teeth
RG-div2	TIMMDC1	0.533122384	3.08E-05	Unclassified	BrainSpLMD|51300	OMIM|615534;HPO|51300|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
RG-div2	ILK	0.422392904	3.11E-05	Serine/threonine kinase	BrainSpLMD|3611	OMIM|602366
RG-div2	EIF4G1	0.782656019	3.12E-05	Translation regulatory protein	BrainSpLMD|1981	OMIM|600495
RG-div2	COA5	0.584637813	3.14E-05	Unclassified	BrainSpLMD|493753;Eurexp|euxassay_012758|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, ventricle, vestibulocochlear VIII	OMIM|613920;HPO|493753|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Congenital onset, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
RG-div2	RTKN2	0.911042075	3.16E-05	Unclassified	BrainSpLMD|219790	
RG-div2	MTA3	0.453710695	3.16E-05	Transcription regulatory protein	BrainSpLMD|57504;BrainSpMouseDev|78179	OMIM|609050
RG-div2	WRN	0.352899861	3.26E-05	Deoxyribonuclease	BrainSpLMD|7486	OMIM|604611;COSMIC||osteosarcoma, meningioma, other tumour types;HPO|7486|Abnormal hair whorl, Abnormality of retinal pigmentation, Abnormality of the hair, Abnormality of the thorax, Abnormality of the voice, Aplasia/Hypoplasia of the skin, Aplasia/Hypoplasia of the testes, Autosomal recessive inheritance, Cataract, Chondrocalcinosis, Congestive heart failure, Convex nasal ridge, Decreased fertility, Diabetes mellitus, Hyperkeratosis, Hypogonadism, Increased bone mineral density, Insulin resistance, Lack of skin elasticity, Lipoatrophy, Meningioma, Myocardial infarction, Narrow face, Osteoporosis, Osteosarcoma, Pili torti, Premature arteriosclerosis, Premature graying of hair, Progeroid facial appearance, Pulmonary artery stenosis, Retinal degeneration, Rocker bottom foot, Short stature, Skeletal muscle atrophy, Skin ulcer, Slender build, Small hand, Sparse scalp hair, Subcutaneous calcification, Telangiectasia of the skin, Type II diabetes mellitus, White forelock
RG-div2	UBA2	0.376795686	3.26E-05	Ubiquitin proteasome system protein	BrainSpLMD|10054	OMIM|613295
RG-div2	DCUN1D5	0.579143813	3.31E-05	Unclassified	BrainSpLMD|84259;Eurexp|euxassay_000073|Meckel's cartilage, basal plate, cervical, cervico-thoracic, cortex, cranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, mantle layer, molar, skeletal muscle, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, ventricular layer, vibrissa;BrainSpMouseDev|52703	OMIM|616522
RG-div2	NOL7	0.829318801	3.37E-05	Unclassified	BrainSpLMD|51406	OMIM|611533
RG-div2	CHRDL1	0.26357497	3.38E-05	Secreted polypeptide	BrainSpLMD|91851	OMIM|300350
RG-div2	VPS35	0.27033143	3.42E-05	Transport/cargo protein	BrainSpLMD|55737	OMIM|601501
RG-div2	GCFC2	0.347590457	3.43E-05	Transcription factor	BrainSpLMD|6936	OMIM|189901
RG-div2	SLMO2	0.288544108	3.47E-05			
RG-div2	ARHGAP18	0.357993518	3.48E-05	GTPase activating protein	BrainSpLMD|93663	OMIM|613351
RG-div2	HDDC2	0.680704699	3.48E-05	Unclassified	BrainSpLMD|51020	
RG-div2	HSPA14	0.415965154	3.48E-05	Chaperone	BrainSpLMD|51182	OMIM|610369
RG-div2	CTC.359D24.3	0.327209919	3.51E-05			
RG-div2	SREK1IP1	0.417952598	3.53E-05	Regulatory/other subunit	BrainSpLMD|285672	
RG-div2	TRDMT1	0.322178574	3.56E-05	DNA methyltransferase	BrainSpLMD|1787;BrainSpMouseDev|13213	OMIM|602478
RG-div2	COG8	0.269021318	3.60E-05	Transport/cargo protein	BrainSpLMD|84342	OMIM|606979;HPO|84342|Alternating esotropia, Autosomal recessive inheritance, Cerebellar atrophy, Elevated serum creatine phosphokinase, Elevated serum transaminases during infections, Encephalopathy, Intellectual disability, Muscular hypotonia, Status epilepticus, Ventriculomegaly
RG-div2	ZNF680	0.448712252	3.63E-05	DNA binding protein	BrainSpLMD|340252	
RG-div2	TXN2	0.498540191	3.68E-05	Enzyme: Oxidoreductase	BrainSpLMD|25828	OMIM|609063;HPO|25828|Autosomal recessive inheritance, Axonal degeneration, Cerebellar atrophy, Congenital onset, Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex III, Delayed CNS myelination, Dystonia, Feeding difficulties, Generalized hypotonia, Global brain atrophy, Global developmental delay, Increased CSF lactate, Increased CSF protein, Increased serum lactate, Infantile onset, Microcephaly, Optic atrophy, Optic neuropathy, Peripheral neuropathy, Progressive, Retinopathy, Seizures, Spasticity, Subependymal cysts
RG-div2	CXorf56	0.495790851	3.86E-05	Unclassified		
RG-div2	SF3B3	0.368567669	3.91E-05	RNA binding protein	BrainSpLMD|23450	OMIM|605592
RG-div2	DKC1	0.294606696	4.03E-05	RNA binding protein	BrainSpLMD|1736	OMIM|300126;HPO|1736|Abnormal blistering of the skin, Abnormality of coagulation, Abnormality of female internal genitalia, Abnormality of neutrophils, Abnormality of the fingernails, Abnormality of the pharynx, Acute myeloid leukemia, Alopecia, Anal mucosal leukoplakia, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Blepharitis, Bone marrow hypocellularity, Carious teeth, Cataract, Cellular immunodeficiency, Cerebellar hypoplasia, Cerebral cortical atrophy, Cirrhosis, Conjunctivitis, Cryptorchidism, Decreased testicular size, Dermal atrophy, Esophageal stenosis, Esophageal stricture, Excessive wrinkled skin, Failure to thrive, Generalized hyperpigmentation, Generalized hypopigmentation of hair, Global developmental delay, Hodgkin lymphoma, Horseshoe kidney, Hyperhidrosis, Hypermelanotic macule, Hyperpigmentation of the skin, Hypertonia, Hypodontia, Hypopigmented skin patches, Hypospadias, Immunodeficiency, Increased lacrimation, Intellectual disability, Intrauterine growth retardation, Leukopenia, Malabsorption, Microcephaly, Myelodysplasia, Nail dystrophy, Optic atrophy, Oral leukoplakia, Osteoporosis, Pancytopenia, Periodontitis, Phimosis, Premature graying of hair, Premature loss of teeth, Pterygium of nails, Pulmonary fibrosis, Recurrent fractures, Recurrent respiratory infections, Restrictive ventilatory defect, Reticulated skin pigmentation, Ridged nail, Rough bone trabeculation, Short stature, Skin ulcer, Sparse eyelashes, Sparse hair, Sparse scalp hair, Split nail, Squamous cell carcinoma, Strabismus, Taurodontia, Telangiectasia of the skin, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis, Ventriculomegaly, X-linked recessive inheritance
RG-div2	TMTC4	0.508254457	4.05E-05	Integral membrane protein	BrainSpLMD|84899;Eurexp|euxassay_007002|embryo	
RG-div2	TMEM242	0.294853256	4.10E-05		BrainSpLMD|729515	
RG-div2	ADIPOR1	0.501720002	4.20E-05	Integral membrane protein	BrainSpLMD|51094	OMIM|607945
RG-div2	ELP5	0.489177347	4.23E-05	Unclassified	BrainSpLMD|23587	OMIM|615019
RG-div2	GNL3	0.401057038	4.26E-05	Cell cycle control protein	BrainSpLMD|26354;Eurexp|euxassay_006219|cortex, incisor, left, left lung, mandible, marginal layer, maxilla, midgut, molar, neural retina, orbito-sphenoid, palatal shelf, right, right lung, submandibular gland primordium, testis, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|608011
RG-div2	USP28	0.469936134	4.31E-05	Ubiquitin proteasome system protein	BrainSpLMD|57646;Eurexp|euxassay_000568|oesophagus, tongue, vertebral axis muscle system	OMIM|610748
RG-div2	GTF3C6	0.456003079	4.34E-05	Unclassified	BrainSpLMD|112495	OMIM|611784
RG-div2	DEGS1	0.494088268	4.39E-05	Enzyme: Oxidoreductase	BrainSpLMD|8560;Eurexp|euxassay_002879|dorsal root ganglion, pancreas, ventral grey horn	OMIM|615843
RG-div2	SNX6	0.264663842	4.39E-05	Transport/cargo protein	BrainSpLMD|58533	OMIM|606098
RG-div2	PIH1D1	0.285337786	4.46E-05	Unclassified	BrainSpLMD|55011	OMIM|611480
RG-div2	MTHFD2L	0.657009165	4.47E-05	Enzyme: Dehydrogenase	BrainSpLMD|441024	OMIM|614047
RG-div2	WAPAL	0.382343808	4.48E-05			
RG-div2	ABT1	0.409171078	4.51E-05	Transcription factor	BrainSpLMD|29777;Eurexp|euxassay_007592|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|29936	
RG-div2	PSMD8	0.373668426	4.61E-05	Ubiquitin proteasome system protein	BrainSpLMD|5714;Eurexp|euxassay_006093|epidermis, naris, nose, urethra, vibrissa	
RG-div2	CAMK2D	0.430883812	4.68E-05	Serine/threonine kinase	BrainSpLMD|817;Eurexp|euxassay_010500|facial VII, glossopharyngeal IX, mantle layer, mesenchyme, olfactory, trigeminal V, vagus X, ventricle, ventricular layer	OMIM|607708
RG-div2	MYEOV2	0.250504436	4.75E-05			
RG-div2	OGFOD1	0.33310187	4.78E-05	Enzyme: Oxidoreductase	BrainSpLMD|55239	OMIM|615857
RG-div2	UGP2	0.407641044	4.83E-05	Enzyme: Nucleotidyltransferase	BrainSpLMD|7360;Eurexp|euxassay_006932|calyces, cortex, stomach	OMIM|191760
RG-div2	CARD8	0.392528817	4.85E-05	Adapter molecule	BrainSpLMD|22900	OMIM|609051
RG-div2	TEAD1	0.254804236	4.93E-05	Transcription factor	BrainSpLMD|7003;BrainSpMouseDev|21437	OMIM|189967;HPO|7003|Astigmatism, Autosomal dominant inheritance, Myopia, Peripapillary chorioretinal atrophy, Slow progression
RG-div2	ZNF677	0.364135944	5.00E-05	Translation regulatory protein	BrainSpLMD|342926	
RG-div2	ATP5H	0.252529669	5.04E-05			
RG-div2	THUMPD3.AS1	0.408826262	5.05E-05			
RG-div2	ALDH18A1	0.291513745	5.07E-05	Enzyme: Phosphotransferase;Enzyme: Ligase;Enzyme: Reductase	BrainSpLMD|5832;Eurexp|euxassay_007071|embryo	OMIM|138250;HPO|5832|Abnormal facial shape, Abnormal upper motor neuron morphology, Abnormality of pelvic girdle bone morphology, Adducted thumb, Athetosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Bowel diverticulosis, Brachycephaly, Brisk reflexes, Broad forehead, Carpal bone hypoplasia, Cataract, Congenital cataract, Congenital hip dislocation, Corneal arcus, Corneal opacity, Cutis laxa, Delayed cranial suture closure, Delayed skeletal maturation, Dysarthria, Dysfunction of lateral corticospinal tracts, Failure to thrive, Feeding difficulties, Frontal bossing, Full cheeks, Gait disturbance, Gastroesophageal reflux, Generalized amyotrophy, Generalized hypotonia, Genetic anticipation, Global developmental delay, Hernia, Hiatus hernia, Hip dislocation, Hyperextensible skin, Hyperreflexia, Hypertelorism, Hypotelorism, Inguinal hernia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Large fontanelles, Low-set ears, Lower limb muscle weakness, Lower limb spasticity, Macrotia, Microcephaly, Motor polyneuropathy, Myopia, Narrow mouth, Narrow nasal ridge, Pectus excavatum, Pes cavus, Premature skin wrinkling, Progressive, Prominent forehead, Prominent superficial blood vessels, Protruding ear, Redundant skin, Scoliosis, Seizures, Severe short stature, Short stature, Skeletal muscle atrophy, Slow progression, Sparse hair, Spastic paraplegia, Specific learning disability, Sporadic, Strabismus, Talipes equinovarus, Thin skin, Triangular face, Umbilical hernia, Urinary retention, Vomiting, Wide cranial sutures, Wormian bones
RG-div2	POLR2E	0.409938428	5.09E-05	RNA polymerase	BrainSpLMD|5434;Eurexp|euxassay_011641|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|180664
RG-div2	POLI	0.513559419	5.09E-05	DNA polymerase	BrainSpLMD|11201	OMIM|605252
RG-div2	ACYP1	0.696318806	5.14E-05	Enzyme: Phosphatase	BrainSpLMD|97	OMIM|600875
RG-div2	S100PBP	0.563506309	5.37E-05	Unclassified	BrainSpLMD|64766	OMIM|611889
RG-div2	ESD	0.426160787	5.43E-05	Enzyme: Esterase	BrainSpLMD|2098	OMIM|133280
RG-div2	PTOV1	0.387675644	5.44E-05	Cell cycle control protein	BrainSpLMD|53635	OMIM|610195
RG-div2	NAA16	0.538274615	5.57E-05	Unclassified	BrainSpLMD|79612	
RG-div2	ITGAE	1.156645438	5.67E-05	Cell surface receptor	BrainSpLMD|3682;Eurexp|euxassay_001422|incisor, nasal septum, nucleus pulposus, oesophagus	OMIM|604682
RG-div2	DHCR7	1.174232104	5.78E-05	Enzyme: Reductase	BrainSpLMD|1717;Eurexp|euxassay_015508|adrenal gland, neural retina, stroma	SFARI||Autism, No category;OMIM|602858;HPO|1717|2-3 toe syndactyly, Abnormal dermatoglyphics, Abnormal lung lobation, Abnormality of dental morphology, Abnormality of the larynx, Abnormality of the metacarpal bones, Aganglionic megacolon, Aggressive behavior, Ambiguous genitalia, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Atrial septal defect, Atrioventricular canal defect, Attention deficit hyperactivity disorder, Autism, Autosomal recessive inheritance, Bicornuate uterus, Bifid scrotum, Biparietal narrowing, Breech presentation, Broad alveolar ridges, Cataract, Cholestatic liver disease, Cleft palate, Clitoral hypertrophy, Coarctation of aorta, Constipation, Cryptorchidism, Cutaneous photosensitivity, Cutis marmorata, Dandy-Walker malformation, Decreased fetal movement, Dental crowding, Depressed nasal bridge, Eczema, Elevated 7-dehydrocholesterol, Epicanthus, Epiphyseal stippling, Excessive daytime somnolence, Facial capillary hemangioma, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Gastrointestinal dysmotility, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hammertoe, Hearing impairment, Hip dislocation, Hip subluxation, Holoprosencephaly, Hydrocephalus, Hydronephrosis, Hyperactivity, Hypertelorism, Hypertonia, Hypocholesterolemia, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Hypospadias, Increased nuchal translucency, Intellectual disability, Intestinal malrotation, Intrauterine growth retardation, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Metatarsus adductus, Microcephaly, Microglossia, Micrognathia, Micromelia, Micropenis, Muscular hypotonia, Narrow forehead, Nystagmus, Overlapping toe, Patent ductus arteriosus, Periventricular gray matter heterotopia, Polyhydramnios, Poor suck, Postaxial foot polydactyly, Postaxial hand polydactyly, Posteriorly rotated ears, Precocious puberty, Premature birth, Proximal placement of thumb, Ptosis, Pulmonary hypoplasia, Pyloric stenosis, Recurrent infections, Recurrent otitis media, Renal agenesis, Renal cyst, Renal hypoplasia, Scrotal hypoplasia, Seizures, Self-injurious behavior, Self-mutilation, Septate vagina, Severe photosensitivity, Short neck, Short stature, Short thumb, Short toe, Sleep-wake cycle disturbance, Strabismus, Talipes calcaneovalgus, Tracheal stenosis, Ureteropelvic junction obstruction, Ventricular septal defect, Ventriculomegaly, Vomiting, Wide intermamillary distance, Wide mouth, Wide nasal bridge
RG-div2	MYO9B	0.622876583	5.85E-05	Motor protein	BrainSpLMD|4650	SFARI||Autism, 3 - Suggestive evidence;OMIM|602129
RG-div2	LRRC37BP1	0.879746378	5.96E-05		BrainSpLMD|147172	
RG-div2	ZNF721	0.93042757	6.03E-05	DNA binding protein	BrainSpLMD|170960	
RG-div2	PCYOX1	0.281881817	6.08E-05	Enzyme: Oxidase	BrainSpLMD|51449;Eurexp|euxassay_012457|dorsal root ganglion, floor plate, floorplate, glossopharyngeal IX, mantle layer, pituitary, trigeminal V, ventral grey horn, vibrissa	OMIM|610995
RG-div2	POP5	0.551621098	6.10E-05	Ribonuclease	BrainSpLMD|51367;Eurexp|euxassay_014299|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate	OMIM|609992
RG-div2	CHMP2B	0.694535236	6.14E-05	Transport/cargo protein	BrainSpLMD|25978;Eurexp|euxassay_017077|dorsal grey horn, intermediate grey horn, mantle layer, ventral grey horn, ventricular layer, vibrissa	OMIM|609512;HPO|25978|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Adult onset, Aggressive behavior, Alexia, Amyotrophic lateral sclerosis, Anxiety, Apathy, Apraxia, Areflexia, Astrocytosis, Autosomal dominant inheritance, Babinski sign, Bulbar signs, Cerebral cortical atrophy, Collectionism, Depressivity, Disinhibition, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphagia, Dysphasia, Dyspnea, Dystonia, EEG with continuous slow activity, Echolalia, Emotional blunting, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Frontal release signs, Frontotemporal cerebral atrophy, Frontotemporal dementia, Gait disturbance, Generalized muscle weakness, Grammar-specific speech disorder, Hyperorality, Hyperreflexia, Hyporeflexia, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Muscle cramps, Mutism, Myoclonus, Neurodegeneration, Neuronal loss in central nervous system, Orofacial dyskinesia, Pain, Paralysis, Perseveration, Personality changes, Poor speech, Rapidly progressive, Respiratory failure, Respiratory insufficiency due to muscle weakness, Restlessness, Restrictive behavior, Rigidity, Skeletal muscle atrophy, Spasticity, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold, Urinary incontinence, Xerostomia
RG-div2	PYGB	0.397110289	6.21E-05	Enzyme: Phosphorylase	BrainSpLMD|5834	OMIM|138550
RG-div2	VDAC1	0.50709469	6.25E-05	Voltage gated channel	BrainSpLMD|7416	OMIM|604492
RG-div2	LMNB2	0.928571683	6.56E-05	Structural protein	BrainSpLMD|84823	OMIM|150341;HPO|84823|Autoimmunity, Autosomal recessive inheritance, Decreased serum complement C3, Gait ataxia, Generalized amyotrophy, Global developmental delay, Hearing impairment, Intellectual disability, Lipoatrophy, Lymphocytosis, Microglossia, Myoclonus, Myopathy, Progeroid facial appearance, Progressive, Scoliosis, Seizures, Short thumb, Status epilepticus, Ventriculomegaly
RG-div2	DSEL	0.311388052	6.60E-05	Enzyme: Sulphotransferase	BrainSpLMD|92126	OMIM|611125
RG-div2	EIF4H	0.302651125	6.74E-05	Translation regulatory protein	BrainSpLMD|7458	OMIM|603431
RG-div2	ZAK	0.505372144	6.80E-05			
RG-div2	C19orf53	0.65978891	6.84E-05	Unclassified	BrainSpLMD|28974	
RG-div2	COPS7B	0.320076995	6.92E-05	Unclassified	BrainSpLMD|64708;Eurexp|euxassay_011995|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, cervical region, femur, fibula, humerus, orbito-sphenoid, pelvic girdle, petrous part, rib, scapula, tibia, turbinate bones	OMIM|616010
RG-div2	TBC1D16	0.347658394	7.05E-05	Unclassified	BrainSpLMD|125058	OMIM|616637
RG-div2	MED31	0.549385092	7.09E-05	Transcription regulatory protein	BrainSpLMD|51003	
RG-div2	SLC31A1	0.579342007	7.15E-05	Transport/cargo protein	BrainSpLMD|1317;Eurexp|euxassay_004933|cervical, cervico-thoracic, choroid invagination, choroid plexus, incisor, medulla, roof plate, thoracic	OMIM|603085
RG-div2	IPO5	0.636668348	7.16E-05	Transport/cargo protein	BrainSpLMD|3843	OMIM|602008
RG-div2	CYCS	0.285751438	7.17E-05	Enzyme: Oxidase	BrainSpLMD|54205;Eurexp|euxassay_000644|Meckel's cartilage, basal plate, calyces, chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, molar, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|123970;HPO|54205|Autosomal dominant inheritance, Thrombocytopenia
RG-div2	KIAA1958	0.530897773	7.44E-05	Unclassified	Eurexp|euxassay_000143|neural retina	OMIM|617390
RG-div2	CIT	0.766123121	7.45E-05	Serine/threonine kinase	BrainSpLMD|11113;Eurexp|euxassay_014352|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, cervical region, clavicle, femur, fibula, humerus, hyoid bone, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, thyroid, tibia, turbinate bones, vault of skull;BrainSpMouseDev|12488	OMIM|605629;HPO|11113|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Bulbous nose, Cerebellar hypoplasia, Congenital onset, Cortical gyral simplification, Failure to thrive, Global developmental delay, Heterotopia, Hyperreflexia, Hypertelorism, Hypoplasia of the brainstem, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Macrotia, Microcephaly, Pachygyria, Renal agenesis, Short stature, Sloping forehead, Spasticity, Thick vermilion border, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vesicoureteral reflux
RG-div2	U2AF1L4	0.710245278	7.60E-05	RNA binding protein	BrainSpLMD|199746	OMIM|601080
RG-div2	LRRC47	0.347156281	7.67E-05	Unclassified	BrainSpLMD|57470	
RG-div2	KANSL3	0.37150881	7.77E-05	Unclassified	BrainSpLMD|55683	OMIM|617742
RG-div2	AARS	0.580527663	7.81E-05	Enzyme: Ligase	BrainSpLMD|16	OMIM|601065;HPO|16|Areflexia, Autosomal dominant inheritance, Autosomal recessive inheritance, Blepharospasm, CNS hypomyelination, Cerebral atrophy, Chorea, Congenital onset, Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment, Epileptic encephalopathy, Failure to thrive, Foot dorsiflexor weakness, Generalized hypotonia, Global developmental delay, Hammertoe, Hip dislocation, Intrauterine growth retardation, Microcephaly, Nystagmus, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Sensorineural hearing impairment, Short stature, Skeletal muscle atrophy, Spasticity, Variable expressivity
RG-div2	CD2AP	0.759073727	7.83E-05	Adapter molecule	BrainSpLMD|23607;Eurexp|euxassay_018806|mandible, maxilla, submandibular gland primordium, vibrissa	OMIM|604241;HPO|23607|Focal segmental glomerulosclerosis, Hematuria, Hypertension, Proteinuria, Renal insufficiency
RG-div2	CDK10	0.350146811	7.87E-05	Serine/threonine kinase	BrainSpLMD|8558	OMIM|603464
RG-div2	CALCOCO2	0.55733131	7.92E-05	Unclassified	BrainSpLMD|10241	OMIM|604587
RG-div2	NDUFS8	0.27863226	7.94E-05	Enzyme: Oxidoreductase	BrainSpLMD|4728	OMIM|602141;HPO|4728|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
RG-div2	EFCAB14	0.858417437	8.01E-05	Unclassified		
RG-div2	CETN2	0.396048891	8.05E-05	Calcium binding protein	BrainSpLMD|1069;Eurexp|euxassay_015485|choroid plexus, lateral recess	OMIM|300006
RG-div2	NUBPL	0.657776725	8.15E-05	Unclassified	BrainSpLMD|80224	OMIM|613621;HPO|80224|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
RG-div2	CLDND1	0.376011089	8.17E-05	Unclassified	BrainSpLMD|56650;Eurexp|euxassay_006238|embryo	
RG-div2	MOCS2	0.356822132	8.42E-05	Enzyme: Synthase	BrainSpLMD|4338	OMIM|603708;HPO|4338|Autosomal recessive inheritance, Axonal loss, Cerebral atrophy, Ectopia lentis, Feeding difficulties, Frontal bossing, Full cheeks, Gliosis, Growth delay, Hypertelorism, Hypoplasia of the corpus callosum, Hypouricemia, Increased urinary hypoxanthine, Increased urinary taurine, Long face, Long philtrum, Macrocephaly, Microcephaly, Molybdenum cofactor deficiency, Myoclonic spasms, Nystagmus, Opisthotonus, Peripheral demyelination, Progressive, Short nose, Spastic tetraplegia, Thick vermilion border, Ventriculomegaly, Xanthine nephrolithiasis, Xanthinuria
RG-div2	HIBCH	0.401038786	8.48E-05	Enzyme: Hydrolase	BrainSpLMD|26275	OMIM|610690;HPO|26275|Abnormal facial shape, Abnormal vertebral morphology, Agenesis of corpus callosum, Aminoaciduria, Autosomal recessive inheritance, Developmental regression, Dysmetria, Dystonia, Epicanthus, Feeding difficulties, Generalized hypotonia, Global developmental delay, Infantile onset, Muscular hypotonia, Myoclonus, Nystagmus, Seizures, Strabismus, Tetralogy of Fallot
RG-div2	MRPS10	0.603743619	8.63E-05	Ribosomal subunit	BrainSpLMD|55173	OMIM|611976
RG-div2	EMC2	0.288730247	8.67E-05	Unclassified	BrainSpLMD|9694	OMIM|607722
RG-div2	MRPL39	0.578110843	8.76E-05	Ribosomal subunit	BrainSpLMD|54148	OMIM|611845
RG-div2	FEZF2	0.787438643	8.80E-05	Transcription factor	BrainSpLMD|55079;Eurexp|euxassay_009770|mantle layer, ventricular layer, vomeronasal organ;BrainSpMouseDev|34002	SFARI||Autism, 4 - Minimal evidence;OMIM|607414
RG-div2	MAGOHB	0.729804285	9.06E-05	Unclassified	BrainSpLMD|55110	
RG-div2	KIAA1033	0.368496314	9.12E-05			
RG-div2	LYRM5	0.714767109	9.14E-05			
RG-div2	EEF1E1	0.588878288	9.23E-05	Translation regulatory protein	BrainSpLMD|9521	OMIM|609206
RG-div2	KNOP1	0.298635481	9.26E-05	Unclassified	Eurexp|euxassay_009995|submandibular gland primordium	
RG-div2	CCDC181	0.867749299	9.26E-05	Unclassified	BrainSpLMD|57821;Eurexp|euxassay_004163|3rd ventricle, 4th ventricle, choroid invagination	
RG-div2	ATG4B	0.612586833	9.32E-05	Cysteine protease		OMIM|611338
RG-div2	CISD2	0.462797281	9.44E-05	Unclassified	BrainSpLMD|493856	OMIM|611507;HPO|493856|Abnormal bleeding, Abnormality of mesentery morphology, Ataxia, Autosomal recessive inheritance, Depressivity, Diabetes insipidus, Diabetes mellitus, Dysarthria, Dysuria, Feeding difficulties in infancy, Impaired collagen-induced platelet aggregation, Nephropathy, Nystagmus, Optic atrophy, Optic neuropathy, Polydipsia, Recurrent urinary tract infections, Seizures, Sensorineural hearing impairment
RG-div2	NELFE	0.371159663	9.50E-05	RNA binding protein	BrainSpLMD|7936	OMIM|154040
RG-div2	FNTA	0.281628178	9.61E-05	Enzyme: Transferase	BrainSpLMD|2339	OMIM|134635
RG-div2	TMED2	0.376316417	9.68E-05	Transport/cargo protein	BrainSpLMD|10959	
RG-div2	CCDC34	0.666913498	9.68E-05	Unclassified	BrainSpLMD|91057	OMIM|612324
RG-div2	PSPHP1	0.543075034	9.72E-05	Serine/threonine phosphatase		OMIM|604239
RG-div2	XIAP	0.389486349	9.80E-05	Enzyme: Ligase	BrainSpLMD|331	OMIM|300079;HPO|331|Anemia, Cellular immunodeficiency, Decreased antibody level in blood, Encephalitis, Fulminant hepatitis, Hepatic encephalopathy, Hepatomegaly, IgG deficiency, Immunodeficiency, Increased IgM level, Lymphadenopathy, Lymphoma, Meningitis, Pancytopenia, Recurrent pharyngitis, Reduced natural killer cell activity, Splenomegaly, Thrombocytopenia, X-linked inheritance, X-linked recessive inheritance
RG-div2	EIF3G	0.81022382	9.86E-05	Translation regulatory protein	BrainSpLMD|8666	SFARI||Autism, 4 - Minimal evidence;OMIM|603913
RG-div2	RP11.423H2.1	0.401134259	9.94E-05			
RG-div2	INTS2	0.801101485	9.96E-05	Unclassified	BrainSpLMD|57508	OMIM|611346
RG-div2	WDFY2	0.659965704	0.000100057	Unclassified	BrainSpLMD|115825	OMIM|610418
RG-div2	KIAA0195	0.260052731	0.000100674			
RG-div2	CIRH1A	0.694429724	0.000100899			
RG-div2	PHPT1	0.381715272	0.000102703	Enzyme: Phosphatase	BrainSpLMD|29085	OMIM|610167
RG-div2	C14orf119	0.437708701	0.00010352	Unclassified		
RG-div2	C22orf29	0.785576896	0.000103884			
RG-div2	EPS15	0.305316376	0.000104026	Calcium binding protein	BrainSpLMD|2060;Eurexp|euxassay_005655|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|600051;COSMIC||ALL
RG-div2	C5orf51	0.554403216	0.000108182	Unclassified	BrainSpLMD|285636;Eurexp|euxassay_002027|brain, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vagus X	
RG-div2	B3GNT5	0.570936286	0.000108343	Enzyme: Galactosyltransferase	BrainSpLMD|84002	OMIM|615333
RG-div2	SUV39H2	0.533627738	0.000112176	Enzyme: Methyltransferase	BrainSpLMD|79723	OMIM|606503
RG-div2	C11orf73	0.277955237	0.00011229			
RG-div2	WDR54	1.046638042	0.000112633	Unclassified	BrainSpLMD|84058;Eurexp|euxassay_007433|embryo	
RG-div2	KIAA1279	0.646372735	0.000113477			
RG-div2	TMED5	0.299655307	0.000119182	Unclassified	BrainSpLMD|50999	OMIM|616876
RG-div2	AP3B1	0.609257441	0.000123343	Adapter molecule	BrainSpLMD|8546	OMIM|603401;HPO|8546|Aberrant melanosome maturation, Acetabular dysplasia, Albinism, Autosomal recessive inheritance, Carious teeth, Coarse facial features, Congenital onset, Fair hair, Hepatomegaly, Hip dysplasia, Intellectual disability, mild, Long philtrum, Low-set ears, Microcephaly, Motor delay, Neutropenia, Nystagmus, Ocular albinism, Periodontitis, Photophobia, Posteriorly rotated ears, Pulmonary fibrosis, Recurrent bacterial infections, Reduced visual acuity, Smooth philtrum, Splenomegaly, Strabismus, Thin upper lip vermilion, Thrombocytopenia, Upslanted palpebral fissure, Visual impairment, Wide nasal bridge
RG-div2	MTX3	0.272384623	0.000127359	Unclassified		
RG-div2	SCAF8	0.321963559	0.000127563	RNA binding protein	BrainSpLMD|22828	OMIM|616024
RG-div2	FAM208A	0.328979628	0.000128183	Cell cycle control protein	BrainSpLMD|23272	OMIM|616493
RG-div2	STOML2	0.487014146	0.000128585	Membrane transport protein	BrainSpLMD|30968	OMIM|608292
RG-div2	NSDHL	1.00734725	0.000128702	Enzyme: Dehydrogenase	BrainSpLMD|50814	OMIM|300275;HPO|50814|Abnormal cortical bone morphology, Abnormality of digit, Abnormality of the cardiac septa, Abnormality of the nail, Aggressive behavior, Almond-shaped palpebral fissure, Aplasia/hypoplasia of the extremities, Cleft upper lip, Congenital ichthyosiform erythroderma, Delayed speech and language development, Dental crowding, Epicanthus, Epiphyseal stippling, Generalized hypotonia, Global developmental delay, Heterogeneous, High palate, Hydronephrosis, Hyperactivity, Hyperkeratosis, Hyperlordosis, Hypoplastic pelvis, Intellectual disability, Intellectual disability, mild, Irritability, Joint hypermobility, Kyphosis, Long face, Malar flattening, Microcephaly, Micrognathia, Mild intrauterine growth retardation, Narrow face, Pachygyria, Parakeratosis, Polymicrogyria, Posteriorly rotated ears, Prominent nasal bridge, Retrognathia, Scoliosis, Seizures, Single ventricle, Sleep disturbance, Slender build, Strabismus, Umbilical hernia, Upslanted palpebral fissure, X-linked dominant inheritance, X-linked recessive inheritance
RG-div2	GPATCH2	0.76270806	0.000129471	RNA binding protein	BrainSpLMD|55105	OMIM|616836
RG-div2	COG4	0.285546101	0.000133668	Transport/cargo protein	BrainSpLMD|25839	OMIM|606976;HPO|25839|Absent speech, Ataxia, Autosomal recessive inheritance, Cerebral atrophy, Elevated alkaline phosphatase, Elevated hepatic transaminases, Generalized hypotonia, Irritability, Muscular hypotonia of the trunk, Recurrent respiratory infections
RG-div2	DNAH14	0.944931017	0.000135455	Motor protein	BrainSpLMD|127602	OMIM|603341
RG-div2	SENP1	0.370147251	0.000142162	Protease	BrainSpLMD|29843;Eurexp|euxassay_006519|embryo	OMIM|612157
RG-div2	CCDC12	0.385518901	0.000142968	Unclassified	BrainSpLMD|151903	
RG-div2	IFT80	0.424107013	0.000143061	Adapter molecule	BrainSpLMD|57560;Eurexp|euxassay_002024|ventricular layer	OMIM|611177;HPO|57560|Abdominal distention, Abnormal pelvis bone ossification, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Autosomal recessive inheritance, Brachydactyly, Broad palm, Cleft upper lip, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypoplasia of penis, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Mesomelia, Micrognathia, Micromelia, Narrow chest, Postaxial hand polydactyly, Renal hypoplasia, Respiratory insufficiency, Rhizomelia, Short foot, Short metacarpal, Short palm, Short ribs, Short thorax, Skeletal dysplasia, Urethrovaginal fistula, Uterus didelphys, Wide nose
RG-div2	HIGD1A	0.384896568	0.000146251	Integral membrane protein		
RG-div2	ZSWIM7	0.290340875	0.000149738	DNA repair protein		OMIM|614535
RG-div2	OARD1	0.757737297	0.000152747	Unclassified	BrainSpLMD|221443	OMIM|614393
RG-div2	ADCY3	0.618951004	0.000153973	Adenylate cyclase	BrainSpLMD|109;Eurexp|euxassay_018616|facial VII, olfactory, trigeminal V, ventral grey horn	SFARI||Autism, 3 - Suggestive evidence;OMIM|600291
RG-div2	MAT2A	0.277685879	0.00015874	Enzyme: Adenosyltransferase	BrainSpLMD|4144	OMIM|601468
RG-div2	SUMO3	0.45459387	0.000158892	Ubiquitin proteasome system protein	BrainSpLMD|6612	OMIM|602231
RG-div2	KCNT2	0.427744241	0.000163355	Ion channel	BrainSpLMD|343450	OMIM|610044
RG-div2	BRCC3	0.794781455	0.000163828	Ubiquitin proteasome system protein	BrainSpLMD|79184	OMIM|300617
RG-div2	IQCB1	0.471050625	0.000165464	Unclassified	BrainSpLMD|9657;Eurexp|euxassay_012492|ventricle, ventricular layer	OMIM|609237;HPO|9657|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Aplasia/Hypoplasia of the cerebellar vermis, Autosomal recessive inheritance, Cataract, Encephalocele, Global developmental delay, Hemiplegia/hemiparesis, Heterogeneous, Hypertension, Keratoconus, Muscular hypotonia, Nephronophthisis, Nystagmus, Premature ovarian insufficiency, Progressive visual loss, Retinal dystrophy, Rod-cone dystrophy, Seizures, Severe visual impairment, Short stature, Stage 5 chronic kidney disease, Visual impairment
RG-div2	MEIS1	0.325216869	0.000165891	Transcription factor	BrainSpLMD|4211;Eurexp|euxassay_010373|cornea, epithelium, hindgut, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, respiratory, sublingual gland primordium, submandibular gland primordium, trachea, ventricular layer, vibrissa;BrainSpMouseDev|17037	OMIM|601739
RG-div2	OXSR1	0.297793717	0.00017032	Serine/threonine kinase	BrainSpLMD|9943	OMIM|604046
RG-div2	KXD1	0.484576863	0.000170712	Unclassified	BrainSpLMD|79036	OMIM|615178
RG-div2	ZBTB4	0.369430044	0.000170958	Transcription regulatory protein	BrainSpLMD|57659	OMIM|612308
RG-div2	CCDC18	0.54011663	0.000173396	T cell antigen receptor	BrainSpLMD|343099	
RG-div2	CEBPG	0.662333996	0.000174721	Transcription regulatory protein	BrainSpLMD|1054;BrainSpMouseDev|12396	OMIM|138972
RG-div2	ZNF83	0.797655006	0.000175785	DNA binding protein	BrainSpLMD|55769	OMIM|194558
RG-div2	MRPS7	0.260123277	0.000176234	Ribosomal subunit	BrainSpLMD|51081	OMIM|611974
RG-div2	ENTPD1.AS1	0.356703692	0.000176343			
RG-div2	FASTKD2	0.266897075	0.000176474	Unclassified	BrainSpLMD|22868;Eurexp|euxassay_008173|adrenal gland, cortex, hindgut, lobe, lung, midgut, pancreas, rectum, submandibular gland primordium, testis, thymus primordium, urethra, ventricle, vibrissa	OMIM|612322;HPO|22868|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
RG-div2	SLBP	0.62650441	0.00017864	RNA binding protein	BrainSpLMD|7884;Eurexp|euxassay_009988|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|602422
RG-div2	IFT22	0.736144803	0.000182234	GTPase	BrainSpLMD|64792	
RG-div2	CLPX	0.537022405	0.000184009	Protease	BrainSpLMD|10845	OMIM|615611
RG-div2	MRPL36	0.343411774	0.00018443	Ribosomal subunit		OMIM|611842
RG-div2	ALG5	0.406818945	0.000186943	Enzyme: Glycosyltransferase	BrainSpLMD|29880	OMIM|604565
RG-div2	LRRCC1	0.415328002	0.000187666	Unclassified	BrainSpLMD|85444;Eurexp|euxassay_007263|Meckel's cartilage, aortic valve, basisphenoid bone, exoccipital bone, mitral valve, orbito-sphenoid, skeletal muscle, temporal bone, tricuspid valve, turbinate bones, vault of skull	OMIM|617791
RG-div2	BZW1	0.307176218	0.000189501	Transcription factor	BrainSpLMD|9689	
RG-div2	EXOSC2	0.380160476	0.000189553	Ribonuclease	BrainSpLMD|23404	OMIM|602238
RG-div2	APTX	0.564254839	0.00019763	DNA repair protein	BrainSpLMD|54840	OMIM|606350;HPO|54840|Adult onset, Areflexia, Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cognitive impairment, Decreased number of large peripheral myelinated nerve fibers, Dementia, Distal amyotrophy, Distal sensory impairment, Dysarthria, Dystonia, Gait ataxia, Gait disturbance, Gaze-evoked nystagmus, Hypercholesterolemia, Hypoalbuminemia, Hypometric saccades, Hyporeflexia, Juvenile onset, Limb ataxia, Medial flaring of the eyebrow, Muscle weakness, Oculomotor apraxia, Peripheral axonal degeneration, Peripheral neuropathy, Pes cavus, Progressive external ophthalmoplegia, Scoliosis, Tremor, Truncal ataxia
RG-div2	METTL16	0.269893841	0.00019874	Unclassified	BrainSpLMD|79066;Eurexp|euxassay_002736|axial muscle, basal plate, calyces, epidermal component, submandibular gland primordium, ventricular layer	
RG-div2	CDC37	0.364926341	0.000199244	Chaperone	BrainSpLMD|11140	OMIM|605065
RG-div2	MAP9	0.318596337	0.000200614	Unclassified	BrainSpLMD|79884	OMIM|610070
RG-div2	AC068522.4	0.292688686	0.000202629			
RG-div2	GIGYF1	0.264438725	0.000205442	Unclassified	BrainSpLMD|64599;Eurexp|euxassay_007703|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 3 - Suggestive evidence;OMIM|612064
RG-div2	PGAM1	0.677310201	0.000212194	Enzyme: Mutase		OMIM|172250
RG-div2	CAST	0.443531987	0.000213744	Protease inhibitor	BrainSpLMD|831	OMIM|114090;HPO|831|Angular cheilitis, Autosomal recessive inheritance, Epidermal acanthosis, Leukonychia, Palmoplantar keratoderma, Scaling skin
RG-div2	CUL4A	0.603193562	0.000215125	Ubiquitin proteasome system protein	BrainSpLMD|8451	OMIM|603137
RG-div2	RP11.620J15.3	0.399295679	0.000216955			
RG-div2	ARL13B	0.769510901	0.000217774	Unclassified;G protein	BrainSpLMD|200894	OMIM|608922;HPO|200894|Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Cerebellar vermis hypoplasia, Episodic tachypnea, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Intellectual disability, Long face, Molar tooth sign on MRI, Muscular hypotonia, Nystagmus, Obesity, Oculomotor apraxia, Optic disc pallor, Pigmentary retinopathy
RG-div2	LEPROT	0.494191118	0.000218099	Integral membrane protein		OMIM|613461
RG-div2	GNPDA1	0.682189513	0.000219656	Enzyme: Deaminase	BrainSpLMD|10007	OMIM|601798
RG-div2	PLGRKT	0.635965579	0.000222059	Integral membrane protein	BrainSpLMD|55848;Eurexp|euxassay_001488|thymus primordium	
RG-div2	ASXL2	0.583946516	0.000233548	DNA binding protein	BrainSpLMD|55252;Eurexp|euxassay_009229|ventricular layer, vibrissa	OMIM|612991;COSMIC||melanoma, CCRCC, AML;HPO|55252|Atrial septal defect, Autosomal dominant inheritance, Broad nasal tip, Deep palmar crease, Delayed speech and language development, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Highly arched eyebrow, Hypertelorism, Infantile onset, Intellectual disability, Kyphosis, Long face, Low-set ears, Macrocephaly, Phenotypic variability, Posteriorly rotated ears, Proptosis, Ptosis, Retrognathia, Scoliosis, Ventriculomegaly
RG-div2	TSPO	0.746926107	0.000241441	Integral membrane protein	BrainSpLMD|706;Eurexp|euxassay_005714|liver	OMIM|109610
RG-div2	MED10	0.394450892	0.000245205	Transcription regulatory protein	BrainSpLMD|84246	OMIM|612382
RG-div2	GRM3	0.894679536	0.000245301	G protein coupled receptor	BrainSpLMD|2913;BrainSpMouseDev|72231	OMIM|601115;COSMIC||melanoma, oral SCC
RG-div2	SAFB	0.707267264	0.000247614	Transcription factor	BrainSpLMD|6294	OMIM|602895
RG-div2	ZMYM1	0.637790858	0.000249267	Unclassified	BrainSpLMD|79830	
RG-div2	MIEF1	0.475054748	0.000250358	Unclassified	BrainSpLMD|54471	OMIM|615497
RG-div2	TSEN15	0.620331662	0.000252004	Ribonuclease	BrainSpLMD|116461	OMIM|608756;HPO|116461|Autosomal recessive inheritance, Congenital onset, Generalized hypotonia, Intellectual disability, Progressive microcephaly, Variable expressivity
RG-div2	USP40	0.580265453	0.000252759	Ubiquitin proteasome system protein		OMIM|610570
RG-div2	FAM221A	0.292969945	0.000253165	Unclassified	BrainSpLMD|340277	
RG-div2	EIF4E3	0.63384258	0.000254847	RNA binding protein	BrainSpLMD|317649;Eurexp|euxassay_007888|neural retina, olfactory, vomeronasal organ	OMIM|609896
RG-div2	AK2	0.268176258	0.000260597	Enzyme: Phosphotransferase	BrainSpLMD|204;Eurexp|euxassay_001711|axial muscle, cortex, foregut-midgut junction, hindgut, lobe, midgut, molar, nucleus pulposus, orbito-sphenoid, rectum, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|103020;HPO|204|Abnormality of mitochondrial metabolism, Abnormality of neutrophils, Abnormality of the thymus, Absent cellular immunity, Anemia, Aplasia/Hypoplasia of the thymus, Autosomal recessive inheritance, Cellular immunodeficiency, Chronic otitis media, Congenital agranulocytosis, Decreased antibody level in blood, Diarrhea, Failure to thrive, Fever, Hearing impairment, Leukopenia, Lymphopenia, Malabsorption, Recurrent respiratory infections, Sepsis, Severe combined immunodeficiency, Weight loss
RG-div2	PSME2	0.54249605	0.000262976	Ubiquitin proteasome system protein	BrainSpLMD|5721;Eurexp|euxassay_007332|thymus primordium	OMIM|602161
RG-div2	GSTK1	0.94666871	0.000265676	Enzyme: Glutathione transferase	BrainSpLMD|373156	OMIM|602321
RG-div2	DDX59	0.281734908	0.000277898	Unclassified;DNA binding protein	BrainSpLMD|83479	OMIM|615464;HPO|83479|Autosomal recessive inheritance, Frontal bossing, Hypertelorism, Intellectual disability, Lobulated tongue, Median cleft lip, Postaxial foot polydactyly, Postaxial hand polydactyly
RG-div2	NSFL1C	0.352166747	0.000297125	Unclassified	BrainSpLMD|55968	OMIM|606610
RG-div2	KATNAL1	0.593277039	0.000299535	ATPase	BrainSpLMD|84056	SFARI||Autism, 4 - Minimal evidence;OMIM|614764
RG-div2	DHRSX	0.297183744	0.000303345	Enzyme: Oxidoreductase		
RG-div2	DNAJC16	0.42737601	0.000306774	Unclassified	BrainSpLMD|23341;Eurexp|euxassay_003764|olfactory	
RG-div2	CTCF	0.557446112	0.000311231	Transcription regulatory protein	BrainSpLMD|10664	SFARI||Autism, 3 - Suggestive evidence;OMIM|604167;COSMIC||endometrial, breast, head and neck cancer, Mental retardation, autosomal dominant 21;HPO|10664|Abnormality of the dentition, Autosomal dominant inheritance, Cryptorchidism, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hypermetropia, Intellectual disability, Microcephaly, Short stature, Strabismus, Thin vermilion border
RG-div2	CD99L2	0.672234711	0.000311815	Integral membrane protein	BrainSpLMD|83692;Eurexp|euxassay_014811|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|300846
RG-div2	DECR1	0.27993775	0.000312389	Enzyme: Reductase	BrainSpLMD|1666	OMIM|222745
RG-div2	GTPBP4	0.31334998	0.000318145	GTPase	BrainSpLMD|23560	
RG-div2	SYPL1	0.742699069	0.000319052	Integral membrane protein	BrainSpLMD|6856;Eurexp|euxassay_005903|embryo	OMIM|616665
RG-div2	PGK1	0.281210485	0.00032532	Enzyme: Phosphotransferase	BrainSpLMD|5230;Eurexp|euxassay_018885|cerebral cortex, clavicle, diaphragm, dorsal root ganglion, facial VII, heart, incisor, lung, mandible, mantle layer, marginal layer, mesenchyme, metanephros, nasal cavity, nasal septum, nucleus pulposus, peripheral nervous system, physiological umbilical hernia, renal/urinary system, salivary gland, stomach, submandibular gland primordium, thymus primordium, tooth, trigeminal V, turbinate bones, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|311800;HPO|5230|Ataxia, Delayed speech and language development, Emotional lability, Exercise intolerance, Exercise-induced muscle cramps, Exercise-induced myoglobinuria, Intellectual disability, Migraine, Phenotypic variability, Reticulocytosis, Rhabdomyolysis, Seizures, X-linked recessive inheritance
RG-div2	ZNF577	0.899833548	0.000327428	DNA binding protein	BrainSpLMD|84765	
RG-div2	TMEM261	0.270404591	0.000328616			
RG-div2	ROCK2	0.305222508	0.000333691	Serine/threonine kinase	BrainSpLMD|9475;BrainSpMouseDev|19641	OMIM|604002
RG-div2	RAD51C	0.515862006	0.000334763	DNA repair protein	BrainSpLMD|5889	OMIM|602774;HPO|5889|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of the fallopian tube, Absent thumb, Almond-shaped palpebral fissure, Anal atresia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Breast carcinoma, Cryptorchidism, Esophageal atresia, External genital hypoplasia, Global developmental delay, Hydronephrosis, Hypopigmented skin patches, Hypoplasia of the radius, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Ovarian neoplasm, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Rectal atresia, Renal cyst, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Stage 5 chronic kidney disease, Thrombocytopenia, Tracheoesophageal fistula
RG-div2	RP11.254B13.1	0.376014995	0.000335334			
RG-div2	EIF4E	0.271886539	0.00033652	Translation regulatory protein	BrainSpLMD|1977	SFARI||Autism, 4 - Minimal evidence;OMIM|133440
RG-div2	PSMD9	0.313655804	0.000350893	Ubiquitin proteasome system protein	BrainSpLMD|5715;Eurexp|euxassay_012010|exoccipital bone, orbito-sphenoid, petrous part	OMIM|603146
RG-div2	ATP5G1	0.289305657	0.000351439			
RG-div2	MRPL24	0.296578413	0.000356816	Ribosomal subunit	BrainSpLMD|79590;Eurexp|euxassay_003446|adenohypophysis, incisor, oesophagus, olfactory, pancreas, respiratory, submandibular gland primordium, testis, thymus primordium, thyroid, vibrissa	OMIM|611836
RG-div2	ADAM9	0.607307955	0.000357149	Metallo protease	BrainSpLMD|8754	OMIM|602713;HPO|8754|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal recessive inheritance, Cone/cone-rod dystrophy, Nyctalopia, Photophobia, Visual impairment
RG-div2	FIBP	0.630184748	0.000366278	Unclassified	BrainSpLMD|9158	OMIM|608296;HPO|9158|Autosomal recessive inheritance, Bifid ureter, Coloboma, Deeply set eye, Downslanted palpebral fissures, Epicanthus, Global developmental delay, Hypertelorism, Intellectual disability, mild, Large for gestational age, Large hands, Long foot, Long hallux, Macroglossia, Macrotia, Midface retrusion, Mitral valve prolapse, Overgrowth, Renal malrotation, Round face, Strabismus, Thick vermilion border, Varicose veins
RG-div2	POLE	0.945759862	0.00038541	DNA polymerase	BrainSpLMD|5426	OMIM|174762;COSMIC||colorectal carcinoma, endometrioid carcinoma, stomach carcinoma, skin cancer, colorectal cancer susceptibility, FILS syndrome;HPO|5426|Abnormal facial shape, Autosomal recessive inheritance, Broad forehead, Congenital onset, Immunodeficiency, Malar flattening, Recurrent respiratory infections, Relative macrocephaly, Short stature, Telangiectases of the cheeks
RG-div2	SEPHS1	1.040686113	0.000390363	Enzyme: Synthase	BrainSpLMD|22929	OMIM|600902
RG-div2	PCYT1B	0.464488209	0.000390857	Enzyme: Nucleotidyltransferase	BrainSpLMD|9468;Eurexp|euxassay_004655|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|300948
RG-div2	REC8	0.464945722	0.00040481	Cell cycle control protein	BrainSpLMD|9985;Eurexp|euxassay_012260|cochlea, lung, mantle layer, metanephros, olfactory, ovary, pancreas, pituitary, stomach, thyroid, trigeminal V, urethra, ventral grey horn, ventricular layer	OMIM|608193
RG-div2	YTHDF2	0.572348466	0.000408047	Unclassified	BrainSpLMD|51441	OMIM|610640
RG-div2	UBE2D4	0.489321122	0.000430777	Ubiquitin proteasome system protein	BrainSpLMD|51619	
RG-div2	SLC35F5	0.394469053	0.000431351	Membrane transport protein	BrainSpLMD|80255	
RG-div2	DPYSL5	0.27483079	0.000434013	Unclassified	BrainSpLMD|56896;BrainSpMouseDev|41755	OMIM|608383
RG-div2	VCL	0.35763387	0.000434334	Cytoskeletal associated protein	BrainSpLMD|7414	OMIM|193065;HPO|7414|Autosomal dominant inheritance, Congestive heart failure, Dilated cardiomyopathy, Dyspnea, Endocardial fibrosis, Hypertrophic cardiomyopathy
RG-div2	MRPS16	0.367676417	0.000440915	Ribosomal subunit	BrainSpLMD|51021	OMIM|609204;HPO|51021|Abnormal facial shape, Agenesis of corpus callosum, Autosomal recessive inheritance, Brachydactyly, Congenital onset, Edema, Elevated hepatic transaminases, Feeding difficulties in infancy, Heterogeneous, Hypokinesia, Increased serum lactate, Lactic acidosis, Lethargy, Low-set ears, Neonatal hypotonia, Patent ductus arteriosus, Redundant neck skin, Small for gestational age, Ventriculomegaly
RG-div2	CDC23	0.475541802	0.000458102	Ubiquitin proteasome system protein;Cell cycle control protein	BrainSpLMD|8697;Eurexp|euxassay_007491|embryo	OMIM|603462
RG-div2	SEC61B	0.833024739	0.000459391	Membrane transport protein		OMIM|609214
RG-div2	RNF145	0.575732146	0.000470415	Ubiquitin proteasome system protein	BrainSpLMD|153830	
RG-div2	RHBDD2	0.531833221	0.000476257	Integral membrane protein	BrainSpLMD|57414	OMIM|615203
RG-div2	PPIE	0.491822697	0.000489174	Enzyme: Isomerase;RNA binding protein	BrainSpLMD|10450	OMIM|602435
RG-div2	PLCXD1	0.379104408	0.00048939	Enzyme: Phospholipase		OMIM|300974
RG-div2	PSMG3	0.487627678	0.000497683	Unclassified	BrainSpLMD|84262	OMIM|617528
RG-div2	SRP68	0.822774238	0.000514205	RNA binding protein	BrainSpLMD|6730	OMIM|604858
RG-div2	EIF5AL1	0.405644306	0.00051999	Translation regulatory protein		
RG-div2	OXCT1	0.926987918	0.000521956	Enzyme: CoA transferase	BrainSpLMD|5019	OMIM|601424;HPO|5019|Autosomal recessive inheritance, Episodic ketoacidosis, Ketonuria, Tachypnea, Vomiting
RG-div2	TPP2	0.391176613	0.000524555	Aminopeptidase	BrainSpLMD|7174	OMIM|190470;HPO|7174|Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemiparesis, Hepatitis, Lymphadenopathy, Lymphopenia, Moderate global developmental delay, Recurrent otitis media, Respiratory tract infection, Splenomegaly, Stroke, Systemic lupus erythematosus
RG-div2	C7orf55	0.510733565	0.000532567			
RG-div2	RRNAD1	0.295291914	0.000536441	Unclassified	BrainSpLMD|51093	
RG-div2	B3GALNT2	0.496297911	0.000539305	Enzyme: Transferase	BrainSpLMD|148789;Eurexp|euxassay_015892|submandibular gland primordium	OMIM|610194;HPO|148789|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Abnormality of the voice, Absent septum pellucidum, Agenesis of corpus callosum, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Autosomal recessive inheritance, Blindness, Cataract, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Chorioretinal dysplasia, Cognitive impairment, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, EEG abnormality, EMG abnormality, Elevated serum creatine phosphokinase, Gait disturbance, Glaucoma, Global developmental delay, Hydrocephalus, Hypertonia, Hypoplasia of penis, Hypoplasia of the pons, Hyporeflexia, Intellectual disability, Lissencephaly, Macrocephaly, Macrogyria, Metatarsus valgus, Microphthalmia, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Myopathy, Myopia, Neurological speech impairment, Optic atrophy, Optic nerve hypoplasia, Pachygyria, Polymicrogyria, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Seizures, Severe muscular hypotonia, Skeletal muscle atrophy, Specific learning disability, Strabismus, Type II lissencephaly, Visual impairment
RG-div2	CBFB	0.327628083	0.000539962	Transcription factor	BrainSpLMD|865	OMIM|121360;COSMIC||AML
RG-div2	IDH2	0.416297953	0.000562893	Enzyme: Dehydrogenase	BrainSpLMD|3418	OMIM|147650;COSMIC||glioblastoma;HPO|3418|Abnormality of the metaphysis, Autosomal dominant inheritance, Bone pain, Cardiomyopathy, D-2-hydroxyglutaric aciduria, Exostoses, Global developmental delay, Hemangiomatosis, Joint stiffness, Micromelia, Multiple enchondromatosis, Muscular hypotonia, Osteolysis, Scoliosis, Seizures, Short stature, Subcutaneous nodule, Venous thrombosis, Visceral angiomatosis
RG-div2	PDCL3	0.266893422	0.000570326	Unclassified	BrainSpLMD|79031	OMIM|611678
RG-div2	TXNRD1	0.521611833	0.000572858	Enzyme: Oxidoreductase	BrainSpLMD|7296;Eurexp|euxassay_018922|axial muscle, clavicle, dorsal root ganglion, incisor, liver, lung, mandible, mantle layer, maxilla, molar, neural retina, olfactory, pancreas, pharyngo-tympanic tube, rib, submandibular gland primordium, thymus primordium, thyroid, ventral grey horn, ventricular layer, vibrissa	OMIM|601112
RG-div2	CCDC25	0.553385545	0.000575004	Unclassified	BrainSpLMD|55246	
RG-div2	LAMP2	0.289847329	0.000580655	Adhesion molecule	BrainSpLMD|3920	OMIM|309060;HPO|3920|Arrhythmia, Cardiomegaly, Cardiorespiratory arrest, Cognitive impairment, Dilated cardiomyopathy, EMG: myopathic abnormalities, Elevated serum creatine phosphokinase, Exercise intolerance, Exercise-induced muscle cramps, Gait disturbance, Generalized amyotrophy, Global developmental delay, Hypertrophic cardiomyopathy, Hypokinesia, Intellectual disability, Muscle flaccidity, Myocardial fibrosis, Myocardial necrosis, Pes cavus, Phenotypic variability, Proximal muscle weakness, Visual impairment, Wolff-Parkinson-White syndrome, X-linked dominant inheritance
RG-div2	BAG5	0.261780763	0.000587068	Unclassified	BrainSpLMD|9529	OMIM|603885
RG-div2	MAVS	0.50773806	0.000593372	Unclassified	BrainSpLMD|57506	OMIM|609676
RG-div2	TEX10	0.646368288	0.000606791	Unclassified	BrainSpLMD|54881	OMIM|616717
RG-div2	POLR2J	0.384736087	0.000609952	RNA polymerase	BrainSpLMD|5439	OMIM|604150
RG-div2	ZNF587	0.283084982	0.000611266	Transcription regulatory protein	BrainSpLMD|84914	
RG-div2	SMAD9	0.487612348	0.00062548	Transcription factor;Unclassified	BrainSpLMD|4093;BrainSpMouseDev|35279	OMIM|603295;HPO|4093|Autosomal dominant inheritance, Incomplete penetrance, Increased pulmonary vascular resistance, Progressive, Pulmonary arterial hypertension
RG-div2	RPL13P12	0.426452691	0.000627485			
RG-div2	MALT1	0.31534062	0.000636652	Enzyme: Hydrolase	BrainSpLMD|10892;Eurexp|euxassay_013774|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|604860;COSMIC||MALT;HPO|10892|Anemia, Autosomal recessive inheritance, B-cell lymphoma, Constipation, Fatigue, Fever, Growth delay, Hyperhidrosis, Immunodeficiency, Nausea and vomiting, Pulmonary infiltrates, Recurrent bacterial infections, Recurrent viral infections, Weight loss
RG-div2	PRCC	0.324905455	0.000649531	Unclassified	BrainSpLMD|5546;Eurexp|euxassay_005691|embryo	OMIM|179755;COSMIC||papillary renal;HPO|5546|Autosomal dominant inheritance, Incomplete penetrance, Papillary renal cell carcinoma
RG-div2	DANCR	0.588322955	0.00065442			OMIM|614625
RG-div2	C1orf35	0.363580725	0.000654463	Unclassified	BrainSpLMD|79169;Eurexp|euxassay_006179|ventricular layer	
RG-div2	RPF2	0.35185674	0.000666347	Unclassified	BrainSpLMD|84154	
RG-div2	TP53BP2	0.381086407	0.000666518	Cell cycle control protein	BrainSpLMD|7159	OMIM|602143
RG-div2	ZC3HAV1	0.517153308	0.000667508	-	BrainSpLMD|56829;Eurexp|euxassay_012472|lobe, thymus primordium	OMIM|607312
RG-div2	NUBP2	0.703534137	0.000672024	Unclassified	BrainSpLMD|10101	OMIM|610779
RG-div2	FAM133DP	0.401935997	0.000688414			
RG-div2	TSR2	0.404953277	0.000701413	Unclassified	BrainSpLMD|90121	OMIM|300945;HPO|90121|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Cleft palate, Conductive hearing impairment, Delayed puberty, Downslanted palpebral fissures, Fatigue, Macrocytic anemia, Micrognathia, Microtia, Midface retrusion, Migraine, Pallor, X-linked recessive inheritance
RG-div2	PCNXL4	0.30823305	0.000704731			
RG-div2	RAB3GAP1	0.665653068	0.000712869	GTPase activating protein		OMIM|602536;HPO|22930|Abnormal dermatoglyphics, Abnormal toenail morphology, Abnormality of retinal pigmentation, Abnormality of the distal phalanx of finger, Abnormality of visual evoked potentials, Agenesis of corpus callosum, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Brachycephaly, Cataract, Cerebellar hypoplasia, Cerebral atrophy, Cerebral cortical atrophy, Clitoral hypoplasia, Congenital cataract, Cortical visual impairment, Cryptorchidism, Deeply set eye, Delayed puberty, Depressed nasal bridge, Everted lower lip vermilion, External genital hypoplasia, Facial hypertrichosis, Failure to thrive, Feeding difficulties in infancy, Furrowed tongue, Generalized hirsutism, Generalized hypotonia, Global developmental delay, High palate, Hyperlordosis, Hyperreflexia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplastic labia minora, Hypotelorism, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Kyphoscoliosis, Kyphosis, Lissencephaly, Low posterior hairline, Low-set, posteriorly rotated ears, Macrotia, Malar flattening, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Midface retrusion, Misalignment of teeth, Muscular hypotonia, Optic atrophy, Osteoporosis, Pachygyria, Prematurely aged appearance, Ptosis, Scoliosis, Short nose, Short philtrum, Short stature, Spastic diplegia, Spasticity, Ulnar deviation of finger, Wide nasal bridge
RG-div2	PAQR7	0.369145522	0.000714207	Cell surface receptor	BrainSpLMD|164091;Eurexp|euxassay_006273|ventricular layer	OMIM|607779
RG-div2	HBS1L	0.270233477	0.000714627	Translation regulatory protein	BrainSpLMD|10767	OMIM|612450
RG-div2	QARS	0.425464095	0.000715558	Enzyme: Ligase	BrainSpLMD|5859	OMIM|603727;HPO|5859|Autosomal recessive inheritance, CNS hypomyelination, Cerebellar vermis atrophy, Cerebral atrophy, Epicanthus, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Hypotelorism, Low-set ears, Narrow forehead, Posteriorly rotated ears, Progressive, Progressive microcephaly, Sloping forehead, Status epilepticus, Ventriculomegaly
RG-div2	ANKRD26	0.537131518	0.000727133	Unclassified	BrainSpLMD|22852	OMIM|610855;HPO|22852|Autosomal dominant inheritance, Bruising susceptibility, Thrombocytopenia
RG-div2	ITGB1P1	0.462947779	0.000729826			
RG-div2	SETD8	0.36287177	0.0007411			
RG-div2	C11orf31	0.277934359	0.000756407			
RG-div2	BCAP29	0.268165527	0.000760203	Integral membrane protein	BrainSpLMD|55973;Eurexp|euxassay_000840|dorsal root ganglion, lobe, submandibular gland primordium, thymus primordium, vagus X, ventricular layer, vibrissa	
RG-div2	LNPEP	0.48162507	0.000764637	Aminopeptidase	BrainSpLMD|4012	OMIM|151300
RG-div2	ZNF432	0.498791322	0.000767068	Transcription factor		
RG-div2	LGALSL	0.458055426	0.000773569		BrainSpLMD|29094;Eurexp|euxassay_002315|dorsal root ganglion, pectoral girdle and thoracic body wall, rib, submandibular gland primordium	
RG-div2	ARIH2	0.462781361	0.000774691	Ubiquitin proteasome system protein	BrainSpLMD|10425	OMIM|605615
RG-div2	ORC5	0.258757749	0.00077815	DNA binding protein	BrainSpLMD|5001;Eurexp|euxassay_003489|adenohypophysis, dorsal root ganglion, glossopharyngeal IX, incisor, liver, lung, metanephros, midgut, molar, olfactory, pancreas, penis, pharyngo-tympanic tube, respiratory, submandibular gland primordium, testis, thymus primordium, thyroid, trigeminal V, vagus X	OMIM|602331
RG-div2	ZNF827	0.535430132	0.000778487	DNA binding protein	BrainSpLMD|152485	SFARI||Autism, No category
RG-div2	FAM21A	0.664277982	0.000778489			
RG-div2	RTCB	0.353399598	0.000787999	Unclassified	BrainSpLMD|51493	OMIM|613901
RG-div2	UHRF1BP1	0.759964931	0.000789481	Unclassified	BrainSpLMD|54887	
RG-div2	ATP6V1B2	0.32898068	0.000798768	Transport/cargo protein	BrainSpLMD|526;Eurexp|euxassay_009121|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, naris, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606939;HPO|526|Anonychia, Autosomal dominant inheritance, Bifid nasal tip, Brachydactyly, Congenital onset, Deep philtrum, Gingival overgrowth, Hidrotic ectodermal dysplasia, Macroglossia, Nail dystrophy, Phenotypic variability, Prominent nasal septum, Sensorineural hearing impairment, Short neck, Short stature, Small nail, Synophrys, Thick eyebrow, Thick vermilion border, Toe syndactyly, Underdeveloped nasal alae, Wide nasal bridge
RG-div2	SEC23B	0.720666334	0.000807547	Transport/cargo protein	BrainSpLMD|10483	OMIM|610512;HPO|10483|Abnormality of the penis, Adenoma sebaceum, Anemia of inadequate production, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast carcinoma, Cavernous hemangioma, Cholelithiasis, Cognitive impairment, Colorectal polyposis, Conjunctival hamartoma, Ductal carcinoma in situ, Endopolyploidy on chromosome studies of bone marrow, Furrowed tongue, Generalized hyperkeratosis, Global developmental delay, Goiter, Hamartomatous polyposis, Hashimoto thyroiditis, Hemangioma, Intellectual disability, Intestinal polyposis, Jaundice, Lipoma, Macrocephaly, Macroglossia, Macule, Melanocytic nevus, Meningioma, Mucosal telangiectasiae, Palmoplantar keratoderma, Papilloma, Papule, Reduced activity of N-acetylglucosaminyltransferase II, Reticulocytosis, Splenomegaly, Subcutaneous nodule, Trichilemmoma
RG-div2	LIN54	0.637220289	0.000810564	Unclassified	BrainSpLMD|132660	OMIM|613367
RG-div2	CDH4	0.25914316	0.000822562	Adhesion molecule	BrainSpLMD|1002;BrainSpMouseDev|12346	OMIM|603006
RG-div2	TMEM230	0.434699982	0.000824849	Integral membrane protein	BrainSpLMD|29058	OMIM|617019
RG-div2	DHX15	0.327623449	0.000829208	RNA binding protein	BrainSpLMD|1665	OMIM|603403
RG-div2	WASL	0.400990295	0.000863924	Cytoskeletal associated protein	BrainSpLMD|8976	OMIM|605056
RG-div2	PCID2	0.339652813	0.000879054	Unclassified	BrainSpLMD|55795	OMIM|613713
RG-div2	SRCAP	0.496266764	0.000891956	Transcription regulatory protein	BrainSpLMD|10847	SFARI||Autism, 2 - Strong candidate;OMIM|611421;HPO|10847|Abnormality of the soft palate, Autosomal dominant inheritance, Brachydactyly, Broad columella, Broad thumb, Bulbous nose, Camptodactyly of finger, Celiac disease, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Congenital pseudoarthrosis of the clavicle, Constipation, Deeply set eye, Delayed skeletal maturation, Downturned corners of mouth, Enlarged joints, Expressive language delay, Feeding difficulties in infancy, Generalized hirsutism, Global developmental delay, High pitched voice, Hirsutism, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Joint stiffness, Long eyelashes, Low posterior hairline, Malabsorption, Nasal speech, Neurological speech impairment, Posteriorly rotated ears, Prominent nose, Recurrent otitis media, Short clavicles, Short neck, Short philtrum, Short stature, Smooth philtrum, Thin vermilion border, Triangular face, Underdeveloped nasal alae, Wide mouth, Wide nasal bridge
RG-div2	EXD2	0.596229082	0.000895578	DNA exonuclease	BrainSpLMD|55218;Eurexp|euxassay_004316|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|616940
RG-div2	SLC6A1	0.261407454	0.000913303	Membrane transport protein	BrainSpLMD|6529;Eurexp|euxassay_018302|brain, glossopharyngeal IX, marginal layer, neural retina, spinal cord, vestibulocochlear VIII;BrainSpMouseDev|87401	SFARI||Autism, 2 - Strong candidate;OMIM|137165;HPO|6529|Abnormal brain FDG positron emission tomography, Absence seizures, Ataxia, Atonic seizures, Autosomal dominant inheritance, Developmental regression, Dysarthria, EEG with abnormally slow frequencies, EEG with spike-wave complexes (>3.5 Hz), Epileptic encephalopathy, Eyelid myoclonus, Intellectual disability, Mental deterioration, Myoclonic atonic seizures, Status epilepticus
RG-div2	ARNT2	0.691111442	0.000915869	Transcription factor	BrainSpLMD|9915;Eurexp|euxassay_006289|brain, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, medulla, spinal cord, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|11651	SFARI||Autism, 4 - Minimal evidence;OMIM|606036;HPO|9915|Agenesis of corpus callosum, Anterior pituitary hypoplasia, Autosomal recessive inheritance, Cleft palate, Cryptorchidism, Deeply set eye, Delayed myelination, Diabetes insipidus, Gastroesophageal reflux, Global developmental delay, Growth hormone deficiency, Hemiplegia/hemiparesis, Hip dislocation, Hydronephrosis, Hypernatremia, Hypoplasia of penis, Hypoplasia of the corpus callosum, Microcephaly, Neurogenic bladder, Nystagmus, Pituitary hypothyroidism, Postnatal microcephaly, Prominent forehead, Retrognathia, Seizures, Septo-optic dysplasia, Short stature, Spasticity, Strabismus, Vesicoureteral reflux, Visual impairment
RG-div2	HIF1A	0.385538128	0.000919555	Transcription factor	BrainSpLMD|3091;BrainSpMouseDev|15027	OMIM|603348;COSMIC||endometrioid carcinoma, glioblastoma, colorectal, renal, lung, pancreatic
RG-div2	STARD4	0.477983304	0.000954583	Unclassified	BrainSpLMD|134429;Eurexp|euxassay_008767|hindgut, midgut, rectum	OMIM|607049
RG-div2	KIAA0319L	0.337341193	0.000955421	Integral membrane protein	BrainSpLMD|79932;Eurexp|euxassay_005035|adenohypophysis, brain, dorsal root ganglion, glossopharyngeal IX, hindgut, loop, midgut, olfactory, rectum, respiratory, spinal cord, stomach, trigeminal V, vestibulocochlear VIII	OMIM|613535;HPO|79932|Autoimmunity, Dysphagia, Gastroesophageal reflux, Hypopigmented skin patches, Mucosal telangiectasiae, Narrow foramen obturatorium, Nausea and vomiting, Skin ulcer, Telangiectasia of the skin
RG-div2	COMT	0.615356316	0.000961916	Enzyme: Acyltransferase	BrainSpLMD|1312;Eurexp|euxassay_018193|basal columns, dorsal root ganglion, facial VII, glossopharyngeal IX, liver, mantle layer, thymus primordium, trigeminal V, vagus X;BrainSpMouseDev|12629	OMIM|116790;HPO|1312|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
RG-div2	VPS36	0.567494058	0.000974991	Unclassified	BrainSpLMD|51028	OMIM|610903
RG-div2	COA4	0.406983618	0.000981474	Unclassified	BrainSpLMD|51287	OMIM|608016
RG-div2	C5orf24	0.308114736	0.000982236	Unclassified	BrainSpLMD|134553	
RG-div2	SOCS4	0.629531595	0.000985906	Adapter molecule	BrainSpLMD|122809;Eurexp|euxassay_012190|dorsal root ganglion, olfactory, retina, thymus primordium, trigeminal V, ventricular layer	OMIM|616337
RG-div2	LSM12P1	0.373195042	0.000997026			
RG-div2	CCP110	0.251277208	0.000998783		BrainSpLMD|9738;Eurexp|euxassay_005409|olfactory	OMIM|609544
RG-div2	LASP1	0.374619739	0.001005796	Cytoskeletal associated protein	BrainSpLMD|3927;Eurexp|euxassay_000055|cerebral cortex, olfactory lobe	OMIM|602920;COSMIC||AML
RG-div2	TPD52L2	0.812990171	0.001011365	Unclassified	BrainSpLMD|7165	OMIM|603747
RG-div2	NDUFV1	0.292177804	0.001026988	Enzyme: Oxidoreductase	BrainSpLMD|4723;Eurexp|euxassay_018916|dorsal root ganglion, liver, mantle layer, orbito-sphenoid, pancreas, submandibular gland primordium, testis, ventral grey horn, vibrissa	OMIM|161015;HPO|4723|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
RG-div2	NFRKB	0.646050804	0.001056155	Transcription factor	BrainSpLMD|4798;Eurexp|euxassay_019503|dorsal root ganglion, facial VII, glossopharyngeal IX, lung, metanephros, olfactory, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|164013
RG-div2	SF3A1	0.256784004	0.001073105	RNA binding protein	BrainSpLMD|10291	OMIM|605595
RG-div2	ZNF268	0.459863031	0.001079778	DNA binding protein		OMIM|604753
RG-div2	SNN	0.694737323	0.001091164	Unclassified	BrainSpLMD|8303	OMIM|603032
RG-div2	EIF3FP3	0.747760168	0.001107046			
RG-div2	CPSF3	0.268265081	0.00111184	RNA binding protein	BrainSpLMD|51692	OMIM|606029
RG-div2	GTF2F2	0.471997113	0.001117339	Transcription factor	BrainSpLMD|2963	OMIM|189969
RG-div2	KLHDC3	0.461127867	0.001140274	DNA binding protein	BrainSpLMD|116138	OMIM|611248
RG-div2	PSMD2	0.32448095	0.001149001	Ubiquitin proteasome system protein	BrainSpLMD|5708	OMIM|606223
RG-div2	CTSB	0.336419211	0.001159502	Cysteine protease	BrainSpLMD|1508	OMIM|116810;HPO|1508|Erythema
RG-div2	TMEM50B	0.614884695	0.001166174	Integral membrane protein	BrainSpLMD|757;Eurexp|euxassay_012115|Meckel's cartilage, arytenoid, axial skeleton, basioccipital bone, basisphenoid bone, carpus, cricoid, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, hyoid bone, mantle layer, marginal layer, metacarpus, naris, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rest of mesenchyme, rib, scapula, sternum, submandibular gland primordium, thyroid, tibia, trigeminal V, turbinate bones, ulna, vagus X, vault of skull, ventricular layer, vestibulocochlear VIII	
RG-div2	NUP85	0.663421757	0.001174576	Anchor protein		OMIM|170285
RG-div2	GRPEL2	0.520195781	0.001174775	Chaperone	BrainSpLMD|134266	
RG-div2	NDUFS1	0.279073562	0.001180811	Enzyme: Oxidoreductase	BrainSpLMD|4719;Eurexp|euxassay_018914|dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, liver, mandible, mantle layer, maxilla, midgut, molar, neural retina, orbito-sphenoid, pancreas, stomach, submandibular gland primordium, testis, thymus primordium, trigeminal V, ventral grey horn, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|157655;HPO|4719|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
RG-div2	RPS10	0.480309422	0.00122323	Ribosomal subunit	Eurexp|euxassay_005918|embryo	OMIM|603632;HPO|6204|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Anemia, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Growth delay, Macrocytic anemia, Migraine, Pallor, Vitamin D deficiency
RG-div2	RAP2C	0.546937223	0.001230322	GTPase	BrainSpLMD|57826	
RG-div2	NDUFS6	0.622113207	0.001239299	Enzyme: Dehydrogenase	BrainSpLMD|4726;Eurexp|euxassay_005964|embryo	OMIM|603848;HPO|4726|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
RG-div2	TMEM106B	0.535866568	0.001258127	Unclassified	BrainSpLMD|54664	OMIM|613413;HPO|54664|Abnormal brain FDG positron emission tomography, Abnormality of the cerebral white matter, Aggressive behavior, Alexia, Anxiety, Apraxia, Collectionism, Depressivity, Disinhibition, Dyscalculia, Dysgraphia, Dyslexia, Dysphasia, EEG with continuous slow activity, Echolalia, Emotional blunting, Frontotemporal cerebral atrophy, Frontotemporal dementia, Grammar-specific speech disorder, Hyperorality, Inappropriate behavior, Irritability, Lack of insight, Loss of speech, Memory impairment, Perseveration, Personality changes, Poor speech, Restlessness, Restrictive behavior, Spoken Word Recognition Deficit, Stereotypy, Temporal cortical atrophy, Thickened nuchal skin fold
RG-div2	NDUFB5	0.254580353	0.001265648	Enzyme: Oxidoreductase	BrainSpLMD|4711	OMIM|603841
RG-div2	POLG2	0.252178563	0.001289948	DNA polymerase	BrainSpLMD|11232	OMIM|604983;HPO|11232|Adult onset, Arrhythmia, Autosomal dominant inheritance, Cytochrome C oxidase-negative muscle fibers, Elevated serum creatine phosphokinase, Exercise intolerance, Facial palsy, Glucose intolerance, Increased serum lactate, Limb muscle weakness, Multiple mitochondrial DNA deletions, Myalgia, Progressive, Progressive external ophthalmoplegia, Progressive muscle weakness, Ptosis, Variable expressivity
RG-div2	DGCR8	0.3640073	0.001303744	Unclassified	BrainSpLMD|54487	OMIM|609030;COSMIC||Wilms tumour;HPO|54487|Abnormality of the ear, Abnormality of the endocrine system, Abnormality of the hand, Aggressive behavior, Autosomal dominant inheritance, Blepharophimosis, Bulbous nose, Cleft palate, Hypocalcemia, Inguinal hernia, Intellectual disability, Microcephaly, Mood swings, Muscular hypotonia, Nasal speech, Open mouth, Paranoia, Pierre-Robin sequence, Posterior embryotoxon, Recurrent infections, Retinal vascular tortuosity, Retrognathia, Right aortic arch with mirror image branching, Short stature, Specific learning disability, Tetralogy of Fallot, Umbilical hernia, Underdeveloped nasal alae, Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Ventricular septal defect
RG-div2	SNORA72	0.433084785	0.001325712			
RG-div2	SNX17	0.603029075	0.001328393	Adapter molecule	BrainSpLMD|9784	OMIM|605963
RG-div2	EIF3D	0.287429415	0.00135865	Translation regulatory protein	BrainSpLMD|8664	OMIM|603915
RG-div2	BRD4	0.254568674	0.001380347	Cell cycle control protein	BrainSpLMD|23476	SFARI||Autism, 4 - Minimal evidence;OMIM|608749;COSMIC||lethal midline carcinoma of young people
RG-div2	ZWILCH	0.370209994	0.001412086	Unclassified	BrainSpLMD|55055	SFARI||Autism, 4 - Minimal evidence;OMIM|609984
RG-div2	C1orf52	0.297755128	0.001420946	Unclassified	BrainSpLMD|148423	
RG-div2	STYX	0.497752419	0.001422584	Unclassified	BrainSpLMD|6815;Eurexp|euxassay_007130|embryo	OMIM|615814
RG-div2	PCCB	0.541313572	0.001438342	Enzyme: Carboxylase	BrainSpLMD|5096	SFARI||Autism, No category;OMIM|232050;HPO|5096|Abnormality of immune system physiology, Acute encephalopathy, Anemia, Apnea, Arrhythmia, Autosomal recessive inheritance, Cardiomyopathy, Cerebral atrophy, Coma, Constipation, Dehydration, Dystonia, Eczema, Failure to thrive, Feeding difficulties in infancy, Global developmental delay, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Hyperglycinuria, Hypoglycemia, Intellectual disability, Lactic acidosis, Lethargy, Limb hypertonia, Metabolic acidosis, Muscular hypotonia of the trunk, Neutropenia, Organic aciduria, Osteoporosis, Pancreatitis, Pancytopenia, Poor appetite, Propionyl-CoA carboxylase deficiency, Seizures, Short stature, Tachypnea, Thrombocytopenia, Vomiting
RG-div2	ARL4A	0.304420375	0.001441662	GTPase	BrainSpLMD|10124;Eurexp|euxassay_007257|lung, mandible, mantle layer, maxilla, meninges, oesophagus, urethra, vertebral axis muscle system	OMIM|604786
RG-div2	UNC50	0.564069044	0.001468713	RNA binding protein	BrainSpLMD|25972	
RG-div2	PYGO1	0.526755007	0.00147995	Transcription regulatory protein	BrainSpLMD|26108;BrainSpMouseDev|47976	OMIM|606902
RG-div2	CMSS1	0.305855409	0.001500419	Unclassified	BrainSpLMD|84319	
RG-div2	TMCO3	0.368156032	0.001547709	Integral membrane protein	BrainSpLMD|55002;Eurexp|euxassay_002820|basal plate, nucleus pulposus, ventral grey horn, ventricular layer	OMIM|617134
RG-div2	TMTC2	0.558226796	0.001551793	Integral membrane protein	BrainSpLMD|160335;Eurexp|euxassay_011308|axial skeleton, bladder, brain, capsule, clavicle, cornea, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, hindgut, mandible, maxilla, midgut, oesophagus, olfactory, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, rib, skeletal muscle, spinal cord, stomach, tibia, trigeminal V, ureter, vagus X, valve, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|615856
RG-div2	MLH1	0.607767255	0.001552033	DNA repair protein	BrainSpLMD|4292	OMIM|120436;COSMIC||colorectal, endometrial, ovarian, CNS tumours, colorectal, endometrial, ovarian, CNS;HPO|4292|Abdominal pain, Abnormality of abdomen morphology, Adenoma sebaceum, Anxiety, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary freckling, Basal cell carcinoma, Benign gastrointestinal tract tumors, Benign genitourinary tract neoplasm, Breast carcinoma, Cafe-au-lait spot, Colon cancer, Colonic diverticula, Constipation, Death in early adulthood, Death in infancy, Depressivity, Duodenal adenocarcinoma, Ependymoma, Fatigue, Gastrointestinal hemorrhage, Glioblastoma, Hypermelanotic macule, Hypertonia, Increased intracranial pressure, Irritability, Laryngeal carcinoma, Leukemia, Lymphoma, Malabsorption, Malignant genitourinary tract tumor, Medulloblastoma, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Neoplasm of the stomach, Neuroblastoma, Rhabdomyosarcoma, Sebaceous gland carcinoma, Seizures, Weight loss
RG-div2	SF3A3	0.323946986	0.001564468	RNA binding protein	BrainSpLMD|10946	OMIM|605596
RG-div2	ICE2	0.316578282	0.001583456	DNA binding protein	BrainSpLMD|79664	OMIM|610835
RG-div2	IMPAD1	0.742015174	0.001587711	Enzyme: Phosphatase	BrainSpLMD|54928	OMIM|614010;HPO|54928|Autosomal recessive inheritance, Brachydactyly, Coronal craniosynostosis, Flat face, Genu valgum, Hearing impairment, High forehead, Micrognathia, Narrow mouth, Patellar dislocation, Proptosis, Short foot, Short metacarpal, Short nose, Short stature, Short toe, Wide nasal bridge
RG-div2	SENP2	0.338054949	0.001592013	Ubiquitin proteasome system protein	BrainSpLMD|59343	OMIM|608261
RG-div2	ROMO1	0.260684815	0.001597834	Unclassified		
RG-div2	ISCA1	0.438248842	0.00161552	Unclassified	BrainSpLMD|81689;Eurexp|euxassay_006863|4th ventricle, choroid plexus, left, right	OMIM|611006
RG-div2	SNX1	0.552979932	0.001619376	Transport/cargo protein	BrainSpLMD|6642	OMIM|601272
RG-div2	ZFYVE16	0.401614677	0.001665496	Membrane transport protein	BrainSpLMD|9765	OMIM|608880
RG-div2	FANCL	0.284516177	0.001667532	Enzyme: Ligase	BrainSpLMD|55120;Eurexp|euxassay_006857|ventricular layer	OMIM|608111;HPO|55120|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Cafe-au-lait spot, Chromosome breakage, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Phenotypic variability, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
RG-div2	EXOSC10	0.307838903	0.001682949	Unclassified	BrainSpLMD|5394	OMIM|605960
RG-div2	RNF138	0.524628304	0.001701092	Ubiquitin proteasome system protein	BrainSpLMD|51444;Eurexp|euxassay_008413|brain, facial VII, glossopharyngeal IX, incisor, left lung, metanephros, molar, naris, olfactory, pancreas, peripheral nervous system, pharyngo-tympanic tube, primitive seminiferous tubules, retina, right lung, spinal cord, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|616319
RG-div2	SLC35B2	0.466355633	0.00170247	Membrane transport protein	BrainSpLMD|347734;Eurexp|euxassay_010411|basioccipital bone, basisphenoid bone, clavicle, exoccipital bone, humerus, mandible, maxilla, orbito-sphenoid, otic capsule, petrous part, rib, submandibular gland primordium, turbinate	OMIM|610788
RG-div2	DUSP6	0.381546099	0.001707131	Dual specificity phosphatase	BrainSpLMD|1848;Eurexp|euxassay_018723|cochlea, cornea, hindgut, incisor, intrinsic, metanephros, midgut, molar, naris, pituitary, primary choana, submandibular gland primordium, tongue, tooth, turbinate bones, vertebral axis muscle system, vibrissa;BrainSpMouseDev|43446	OMIM|602748;HPO|1848|Abnormality of body height, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Anosmia, Anterior hypopituitarism, Anxiety, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast hypoplasia, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Depressivity, Erectile abnormalities, Eunuchoid habitus, Female hypogonadism, Gynecomastia, Hypogonadotrophic hypogonadism, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Increased female libido, Male hypogonadism, Micropenis, Non-obstructive azoospermia, Osteopenia, Osteoporosis, Primary amenorrhea, Reduced bone mineral density, Secondary amenorrhea, Sparse axillary hair, Sparse body hair, Sparse pubic hair, Wide intermamillary distance
RG-div2	C11orf49	0.380639334	0.001787151	Unclassified	BrainSpLMD|79096	
RG-div2	CPSF1	0.449087228	0.001799523	RNA binding protein	BrainSpLMD|29894	OMIM|606027
RG-div2	SAMD1	0.44266297	0.001887673	Unclassified	BrainSpLMD|90378	
RG-div2	PGM3	0.25218662	0.001925001	Enzyme: Mutase	BrainSpLMD|5238	OMIM|172100;HPO|5238|Allergic rhinitis, Asthma, Ataxia, Autosomal recessive inheritance, Bronchiectasis, Cognitive impairment, Conductive hearing impairment, Cortical myoclonus, Dysarthria, Eczema, Generalized hypotonia, Global developmental delay, High palate, Immunodeficiency, Intellectual disability, Lymphopenia, Neutropenia, Recurrent respiratory infections, Scoliosis, Sensorineural hearing impairment, Sensory impairment, Vasculitis in the skin
RG-div2	TUBAP2	0.324579294	0.001929558			
RG-div2	NPRL3	0.683612263	0.001932914	Unclassified	BrainSpLMD|8131	OMIM|600928;HPO|8131|Autosomal dominant inheritance, Incomplete penetrance
RG-div2	MRPL37	0.496513238	0.001939892	Ribosomal subunit	BrainSpLMD|51253	OMIM|611843
RG-div2	CHCHD1	0.46955563	0.001959051	Unclassified	BrainSpLMD|118487;Eurexp|euxassay_007424|embryo	OMIM|608842
RG-div2	CNIH4	0.374853012	0.001959088	Unclassified	BrainSpLMD|29097	OMIM|617483
RG-div2	CEP57L1	0.446526068	0.001960594	Unclassified	BrainSpLMD|285753	
RG-div2	PIGU	0.308441726	0.001994769	Integral membrane protein	BrainSpLMD|128869	OMIM|608528
RG-div2	ALDH3A2	0.637484793	0.002027287	Enzyme: Dehydrogenase	BrainSpLMD|224;Eurexp|euxassay_018736|olfactory, thymus primordium	OMIM|609523;HPO|224|Abnormal pyramidal signs, Abnormality of retinal pigmentation, Autosomal recessive inheritance, CNS demyelination, Corneal erosion, Dry skin, Dysarthria, Erythema, Generalized hyperpigmentation, Hyperkeratosis, Hypoplasia of dental enamel, Ichthyosis, Inflammatory abnormality of the eye, Intellectual disability, Kyphosis, Macular degeneration, Myopia, Opacification of the corneal epithelium, Photophobia, Retinopathy, Seizures, Short stature, Skeletal dysplasia, Spastic diplegia, Spasticity, Thoracic kyphosis
RG-div2	CAPRIN1	0.331780923	0.00206351	Integral membrane protein	BrainSpLMD|4076	SFARI||Autism, 3 - Suggestive evidence;OMIM|601178
RG-div2	FAM133B	0.4661847	0.002092904	Unclassified	BrainSpLMD|257415	
RG-div2	CSNK2A1	0.278629638	0.002104045	Serine/threonine kinase	BrainSpLMD|1457;BrainSpMouseDev|12778	OMIM|115440;HPO|1457|Anteverted nares, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Brachydactyly, Clinodactyly, Constipation, Cortical gyral simplification, Delayed speech and language development, Epicanthus, Feeding difficulties, Generalized hypotonia, Global developmental delay, High palate, Highly arched eyebrow, Hypertelorism, IgA deficiency, IgG deficiency, Intellectual disability, Low-set ears, Microcephaly, Micrognathia, Phenotypic variability, Ptosis, Synophrys, Thin upper lip vermilion, Wide nasal bridge
RG-div2	APC	0.366072673	0.002106764	Adhesion molecule	BrainSpLMD|324;Eurexp|euxassay_007660|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|11576	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611731;COSMIC||colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS, colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS;HPO|324|Abdominal pain, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Adenomatous colonic polyposis, Adrenocortical carcinoma, Astrocytoma, Autosomal dominant inheritance, Colon cancer, Desmoid tumors, Epidermoid cyst, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hyperpigmentation of the skin, Intestinal polyposis, Keloids, Malabsorption, Micronodular cirrhosis, Multiple gastric polyps, Multiple lipomas, Myalgia, Neoplasm of the stomach, Odontoma, Renal cell carcinoma, Small intestine carcinoid, Somatic mutation, Stomach cancer, Subacute progressive viral hepatitis, Subcutaneous nodule, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Variable expressivity
RG-div2	BAZ2A	0.522493605	0.002119958	Transcription regulatory protein	BrainSpLMD|11176	OMIM|605682
RG-div2	MLH3	0.371222334	0.002129715	DNA repair protein	BrainSpLMD|27030	OMIM|604395;HPO|27030|Abdominal pain, Anxiety, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Colon cancer, Constipation, Death in early adulthood, Death in infancy, Depressivity, Fatigue, Gastrointestinal hemorrhage, Glioblastoma, Hereditary nonpolyposis colorectal carcinoma, Hypertonia, Increased intracranial pressure, Irritability, Malabsorption, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Seizures, Weight loss
RG-div2	TTC3P1	0.666196134	0.002168474			
RG-div2	RP11.50D9.1	0.26806066	0.002177305			
RG-div2	KRIT1	0.343153176	0.002186931	Unclassified	BrainSpLMD|889;Eurexp|euxassay_002826|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|604214;HPO|889|Abnormality of the musculature, Abnormality of the skin, Autosomal dominant inheritance, Cerebral calcification, Cerebral hemorrhage, Focal T2 hyperintense brainstem lesion, Focal T2 hypointense brainstem lesion, Headache, Hepatic vascular malformations, Heterogeneous, Incomplete penetrance, Increased intracranial pressure, Intracranial hemorrhage, Meningioma, Neuroma, Retinal vascular malformation, Scoliosis, Seizures
RG-div2	ZNF664	0.257766934	0.002191522	Transcription regulatory protein	BrainSpLMD|144348;Eurexp|euxassay_010335|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, inner ear, left lung, metanephros, molar, neural retina, olfactory, pharyngo-tympanic tube, right lung, stomach, submandibular gland primordium, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	
RG-div2	ODC1	0.304328975	0.002193045	Enzyme: Decarboxylase	BrainSpLMD|4953	OMIM|165640
RG-div2	TMEM184C	0.470092398	0.002237192	Unclassified	BrainSpLMD|55751;Eurexp|euxassay_004841|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, olfactory, spinal cord, trigeminal V, vagus X	OMIM|613937
RG-div2	FAM118A	0.491253315	0.00225404	Unclassified	BrainSpLMD|55007;Eurexp|euxassay_004603|marginal layer	
RG-div2	IER3IP1	0.616009791	0.002256501	Unclassified	BrainSpLMD|51124;Eurexp|euxassay_011577|brain, clavicle, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, left lung, metanephros, olfactory, retina, right lung, spinal cord, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|609382;HPO|51124|Anteverted nares, Autosomal recessive inheritance, Brisk reflexes, Congenital onset, Cortical gyral simplification, Delayed myelination, Diabetes mellitus, Feeding difficulties, Full cheeks, Generalized myoclonic seizures, Global developmental delay, High palate, Hypoplasia of the corpus callosum, Hypsarrhythmia, Intellectual disability, profound, Jaundice, Microcephaly, Muscular hypotonia of the trunk, Narrow forehead, Neonatal hypotonia, Ptosis, Recurrent respiratory infections, Tented upper lip vermilion
RG-div2	PCNT	0.407165509	0.002274732	Cytoskeletal protein	BrainSpLMD|5116;BrainSpMouseDev|18307	OMIM|605925;HPO|5116|Abnormality of dental enamel, Abnormality of epiphysis morphology, Abnormality of female external genitalia, Abnormality of the metaphysis, Absent earlobe, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Autosomal recessive inheritance, Brachydactyly, Cachexia, Cafe-au-lait spot, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Coxa vara, Craniosynostosis, Delayed skeletal maturation, Dilatation of the cerebral artery, Disproportionate short stature, Downslanted palpebral fissures, Dry skin, Fine hair, Flared metaphysis, Full cheeks, Glaucoma, Global developmental delay, High pitched voice, Hip dysplasia, Hypermetropia, Hypopigmented skin patches, Hypoplasia of dental enamel, Hypoplastic iliac wing, Hypospadias, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Microcephaly, Microdontia, Micrognathia, Micromelia, Microtia, Mild global developmental delay, Moyamoya phenomenon, Multiple cafe-au-lait spots, Narrow face, Narrow pelvis bone, Nasal speech, Postnatal growth retardation, Precocious puberty, Prematurely aged appearance, Prominent nasal bridge, Prominent nose, Proximal femoral epiphysiolysis, Pseudoepiphyses of the metacarpals, Radial bowing, Reduced number of teeth, Retrognathia, Sandal gap, Scoliosis, Sensorineural hearing impairment, Short 1st metacarpal, Short distal phalanx of finger, Short stature, Slender long bone, Sloping forehead, Sparse scalp hair, Tibial bowing, Truncal obesity, Type II diabetes mellitus, Ulnar bowing, Underdeveloped nasal alae, Upslanted palpebral fissure, Wide nasal bridge
RG-div2	RAB5A	0.36649175	0.002298728	GTPase	BrainSpLMD|5868	OMIM|179512
RG-div2	CHCHD5	0.444850096	0.002314169	Unclassified	BrainSpLMD|84269;Eurexp|euxassay_002823|orbito-sphenoid, turbinate	OMIM|616978
RG-div2	EIF4EP2	0.387229135	0.002323584			
RG-div2	WDR17	0.339025316	0.002348645	Unclassified	BrainSpLMD|116966;Eurexp|euxassay_005530|brain, olfactory, spinal cord	OMIM|609005
RG-div2	RNF141	0.496320608	0.00236882	Transcription factor	BrainSpLMD|50862	OMIM|616641
RG-div2	GTF2H3	0.585013995	0.00244882	Transcription factor	BrainSpLMD|2967;Eurexp|euxassay_002982|submandibular gland primordium	OMIM|601750
RG-div2	SLX4IP	0.287097323	0.002492431	Unclassified		OMIM|615958
RG-div2	FBXO45	0.360037354	0.002493754	Unclassified	Eurexp|euxassay_016469|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn	OMIM|609112
RG-div2	NFYB	0.285318459	0.002516161	Transcription factor	BrainSpLMD|4801;BrainSpMouseDev|17812	OMIM|189904
RG-div2	TMEM128	0.324765589	0.002520337	Integral membrane protein	BrainSpLMD|85013	
RG-div2	SRSF4	0.354995412	0.002567149	RNA binding protein	BrainSpLMD|6429	OMIM|601940
RG-div2	BRIX1	0.371320145	0.002575198	Unclassified	BrainSpLMD|55299	
RG-div2	MRPL16	0.549599354	0.00260105	Ribosomal subunit	BrainSpLMD|54948	OMIM|611829
RG-div2	ARHGEF40	0.314242639	0.00263511		BrainSpLMD|55701	OMIM|610018
RG-div2	ZNF410	0.567057487	0.002652827	Transcription factor	BrainSpLMD|57862	
RG-div2	MRTO4	0.543651702	0.002821502	Unclassified	BrainSpLMD|51154;Eurexp|euxassay_003590|left, pancreas, right, submandibular gland primordium	
RG-div2	ZBTB1	0.560490549	0.002864317	Unclassified	BrainSpLMD|22890;Eurexp|euxassay_019509|mandible, maxilla, submandibular gland primordium, trigeminal V, vibrissa	OMIM|616578
RG-div2	EIF3B	0.376057762	0.002888909	Translation regulatory protein	BrainSpLMD|8662	OMIM|603917
RG-div2	UBE2D2	0.369110639	0.002913029	Ubiquitin proteasome system protein	BrainSpLMD|7322	OMIM|602962
RG-div2	NFU1	0.572027056	0.002927635	Unclassified	BrainSpLMD|27247	OMIM|608100;HPO|27247|Autosomal recessive inheritance, Decreased activity of mitochondrial respiratory chain, Failure to thrive, Feeding difficulties, Global developmental delay, Lactic acidosis, Lethargy, Muscle weakness, Pulmonary arterial hypertension, Respiratory failure
RG-div2	C6orf89	0.55678377	0.002935665	Integral membrane protein	BrainSpLMD|221477	OMIM|616642
RG-div2	ATP9B	0.744353326	0.00294566	ATPase	BrainSpLMD|374868	OMIM|614446
RG-div2	MTOR	0.260708976	0.002969439	Cell cycle control protein	BrainSpLMD|2475;BrainSpMouseDev|35996	SFARI||Autism, 3 - Suggestive evidence;OMIM|601231;COSMIC||endometrial carcinoma, head and neck, clear cell renal cell carcinoma, anaplastic thyroid cancer, urothelial cell carcinoma, central nervous system tumours, testicular germ cell tumours and other tumour types, Smith-Kingsmore syndrome, brain overgrowth phenotypes such as focal cortical dysplasia and megalencephaly;HPO|2475|Adult onset, Astrocytosis, Autosomal dominant inheritance, Cafe-au-lait spot, Cognitive impairment, Cortical dysplasia, Curly hair, Deep palmar crease, Deep plantar creases, Depressed nasal bridge, Downslanted palpebral fissures, Focal seizures with impairment of consciousness or awareness, Focal white matter lesions, Frontal bossing, Generalized hypotonia, Hemiparesis, High forehead, Hypertelorism, Hypoglycemia, IgA deficiency, Infantile onset, Intellectual disability, Long philtrum, Macrocephaly, Midface retrusion, Perisylvian polymicrogyria, Rhizomelia, Seizures, Short chin, Short nose, Short proximal phalanx of finger, Smooth philtrum, Somatic mutation, Sporadic, Thin upper lip vermilion, Thrombocytopenia, Wide anterior fontanel, Wide mouth
RG-div2	LSG1	0.351382089	0.002988938	GTPase	BrainSpLMD|55341	OMIM|610780
RG-div2	DENND6A	0.657581622	0.003011398	Unclassified	BrainSpLMD|201627	
RG-div2	SUCLA2	0.434034364	0.00307162	Enzyme: Synthase	BrainSpLMD|8803;Eurexp|euxassay_018605|dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, right lung, trigeminal V, vagus X	OMIM|603921;HPO|8803|Abnormal electroretinogram, Abnormality of the basal ganglia, Abnormality of visual evoked potentials, Aminoaciduria, Ataxia, Athetosis, Autosomal recessive inheritance, Behavioral abnormality, Cachexia, Cerebral atrophy, Cerebral calcification, Decreased activity of mitochondrial respiratory chain, Decreased nerve conduction velocity, Delayed gross motor development, Dystonia, Elevated serum creatine phosphokinase, Facial diplegia, Failure to thrive, Feeding difficulties in infancy, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hyporeflexia, Infantile onset, Intellectual disability, progressive, Irritability, Lactic acidosis, Loss of ability to walk in early childhood, Methylmalonic acidemia, Methylmalonic aciduria, Microcephaly, Ophthalmoplegia, Peripheral neuropathy, Progressive encephalopathy, Ptosis, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment, Short stature, Skeletal muscle atrophy, Spasticity, Strabismus, Ventriculomegaly, Visual impairment
RG-div2	FER	0.461569144	0.003172203	Tyrosine kinase	BrainSpLMD|2241	SFARI||Autism, No category;OMIM|176942
RG-div2	SS18L2	0.430213389	0.00324307	Unclassified	BrainSpLMD|51188;Eurexp|euxassay_007845|Meckel's cartilage, basioccipital bone, clavicle, cricoid, fibula, metatarsus, nasal septum, orbito-sphenoid, otic capsule, rib, submandibular gland primordium, temporal bone, thyroid, tibia, turbinate	OMIM|606473
RG-div2	P4HB	0.433035747	0.003312307	Enzyme: Isomerase		OMIM|176790;HPO|5034|Abnormal form of the vertebral bodies, Abnormality of dental enamel, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the voice, Autosomal dominant inheritance, Blue sclerae, Bowing of the long bones, Communicating hydrocephalus, Coronal craniosynostosis, Crumpled long bones, Delayed eruption of teeth, Frontal bossing, High pitched voice, Intrauterine growth retardation, Kyphosis, Microdontia, Micrognathia, Midface retrusion, Muscular hypotonia, Orbital craniosynostosis, Osteopenia, Proptosis, Recurrent fractures, Scoliosis, Shallow orbits, Short stature, Skeletal dysplasia, Turricephaly, Vertebral compression fractures, Wormian bones
RG-div2	PATL1	0.279520002	0.003315396	Unclassified	BrainSpLMD|219988	OMIM|614660
RG-div2	USP37	0.30895611	0.00333228	Ubiquitin proteasome system protein	BrainSpLMD|57695	
RG-div2	NCALD	0.27359871	0.003428327	Calcium binding protein	BrainSpLMD|83988;Eurexp|euxassay_005524|cervical, cervico-thoracic, dorsal root ganglion, forebrain, hindbrain, midbrain, spinal cord, thoracic, trigeminal V, vagus X, vibrissa	OMIM|606722
RG-div2	KIF1A	0.285042918	0.003481653	Motor protein	BrainSpLMD|547;Eurexp|euxassay_016778|alar plate, basal plate, cerebellum, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|601255;HPO|547|Abnormal cortical bone morphology, Abnormality of epiphysis morphology, Abnormality of eye movement, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of the ankles, Abnormality of the eye, Abnormality of the hip bone, Abnormality of the knee, Abnormality of the palate, Abnormality of upper lip, Acral ulceration leading to autoamputation of digits, Anhidrosis, Ankle clonus, Anteverted nares, Areflexia, Atrophy/Degeneration affecting the brainstem, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Biparietal narrowing, Cerebellar atrophy, Cerebral cortical atrophy, Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Decreased taste sensation, Drowsiness, Dysmetria, Dystrophic fingernails, Dystrophic toenail, Edema of the lower limbs, Epicanthus, Episodic hyperhidrosis, External ear malformation, Feeding difficulties, Feeding difficulties in infancy, Foot acroosteolysis, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hydrocephalus, Hyperhidrosis, Hyperlordosis, Hyperreflexia, Hyporeflexia, Hypsarrhythmia, Infantile onset, Infantile spasms, Intellectual disability, severe, Limitation of joint mobility, Lower limb amyotrophy, Lower limb muscle weakness, Lower limb spasticity, Macrotia, Malar flattening, Microcephaly, Midface retrusion, Open mouth, Optic atrophy, Osteolytic defects of the phalanges of the hand, Painless fractures due to injury, Palpebral edema, Paronychia, Peripheral axonal neuropathy, Peripheral edema, Peripheral neuropathy, Porencephalic cyst, Progressive, Recurrent respiratory infections, Reduced bone mineral density, Severe muscular hypotonia, Short nose, Skeletal muscle atrophy, Slow progression, Spastic gait, Spastic paraplegia, Tapered finger, Urinary bladder sphincter dysfunction, Variable expressivity, Ventriculomegaly, Visual loss, Wormian bones
RG-div2	CNOT10	0.456392821	0.003540421	Unclassified	BrainSpLMD|25904	
RG-div2	XPC	0.573941087	0.003630806	DNA binding protein	BrainSpLMD|7508;Eurexp|euxassay_007481|embryo	SFARI||Autism, No category;OMIM|613208;COSMIC||skin basal cell, skin squamous cell, melanoma;HPO|7508|Abnormality of the dentition, Arthralgia, Autosomal recessive inheritance, Basal cell carcinoma, Cataract, Childhood onset, Cognitive impairment, Conjunctival telangiectasia, Conjunctivitis, Cryptorchidism, Cutaneous melanoma, Cutaneous photosensitivity, Defective DNA repair after ultraviolet radiation damage, Dermal atrophy, Developmental regression, Dry skin, EEG abnormality, Ectropion, Entropion, Erythema, Failure to thrive, Fatigue, Fever, Freckling, Hyperkeratosis, Hypermelanotic macule, Hypogonadism, Hypopigmentation of the skin, Hypopigmented skin patches, Intellectual disability, progressive, Keratitis, Melanoma, Optic atrophy, Papilloma, Photophobia, Poikiloderma, Sensorineural hearing impairment, Squamous cell carcinoma of the skin, Strabismus, Telangiectasia, Telangiectasia of the skin, Thin skin
RG-div2	FUBP3	0.366133978	0.003782674	Transcription factor	BrainSpLMD|8939;Eurexp|euxassay_019536|dorsal root ganglion, incisor, lung, metanephros, molar, submandibular gland primordium, ventral grey horn, vibrissa	OMIM|603536
RG-div2	RBM19	0.611279612	0.003849448	RNA binding protein	BrainSpLMD|9904	OMIM|616444
RG-div2	TUFM	0.366316408	0.003898507	Translation regulatory protein	BrainSpLMD|7284	OMIM|602389;HPO|7284|Autosomal recessive inheritance, Death in infancy, Developmental regression, Encephalopathy, Hepatomegaly, Hyperammonemia, Increased serum lactate, Infantile onset, Intrauterine growth retardation, Lactic acidosis, Metabolic acidosis, Microcephaly, Neonatal hypotonia, Nystagmus, Opisthotonus, Polymicrogyria, Respiratory failure
RG-div2	TRPM7	0.376358091	0.003924871	Ion channel	BrainSpLMD|54822;Eurexp|euxassay_008209|vibrissa	OMIM|605692
RG-div2	RP11.395L14.17	0.383310498	0.003953881			
RG-div2	GNB4	0.539390552	0.003984928	G protein	BrainSpLMD|59345;Eurexp|euxassay_006820|aortic valve, cervical, cervico-thoracic, clavicle, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, mitral valve, neural retina, pulmonary valve, thoracic, tricuspid valve, trigeminal V, vagus X, valve, ventral grey horn;BrainSpMouseDev|14472	OMIM|610863;HPO|59345|Autosomal dominant inheritance, Axonal regeneration, Distal sensory impairment, Hammertoe, Hyporeflexia, Onion bulb formation, Pes cavus, Slow progression, Steppage gait
RG-div2	ZNF639	0.776416796	0.004115636	Unclassified	BrainSpLMD|51193	
RG-div2	TMEM181	0.350448912	0.00419004	Unclassified		OMIM|613209
RG-div2	RP11.490K7.4	0.281632425	0.004255499			
RG-div2	MYO19	0.34024268	0.004285056	Motor protein	BrainSpLMD|80179;Eurexp|euxassay_003392|Meckel's cartilage, adenohypophysis, clavicle, hindgut, incisor, loop, midgut, orbito-sphenoid, rectum, rib, submandibular gland primordium, vibrissa, vomeronasal organ	OMIM|617379
RG-div2	CNDP2	0.998403093	0.00432866	Metallo protease	BrainSpLMD|55748	OMIM|169800
RG-div2	NUP205	0.476570819	0.00432896	Unclassified		OMIM|614352;HPO|23165|Autosomal recessive inheritance, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome
RG-div2	NIT2	0.53532992	0.004335492	Enzyme: Hydrolase	BrainSpLMD|56954	OMIM|616769
RG-div2	MLLT6	0.458934778	0.004348602	Transcription regulatory protein	BrainSpLMD|4302	OMIM|600328;COSMIC||AL
RG-div2	FH	0.748921337	0.004403619	Enzyme: Hydratase	BrainSpLMD|2271;Eurexp|euxassay_004825|axial muscle	OMIM|136850;COSMIC||leiomyomatosis, renal;HPO|2271|Abnormality of the musculature, Agenesis of corpus callosum, Aminoaciduria, Anteverted nares, Autosomal recessive inheritance, Cerebral atrophy, Cholestasis, Choroid plexus cyst, Cutaneous leiomyoma, Depressed nasal bridge, Failure to thrive, Frontal bossing, Generalized hypotonia, Global developmental delay, Hepatic failure, High palate, Hypertelorism, Hypoplasia of the brainstem, Intellectual disability, profound, Lactic acidosis, Metabolic acidosis, Microcephaly, Multiple cutaneous leiomyomas, Neurological speech impairment, Open operculum, Optic atrophy, Pallor, Polycythemia, Polymicrogyria, Pruritus, Reduced subcutaneous adipose tissue, Relative macrocephaly, Status epilepticus, Visual impairment
RG-div2	ACER3	0.397051011	0.004438045	Enzyme: Hydrolase	BrainSpLMD|55331;Eurexp|euxassay_012582|vibrissa	OMIM|617036
RG-div2	KATNBL1	0.25581891	0.004501583	Unclassified		OMIM|616235
RG-div2	WDR55	0.469943067	0.00451365	Unclassified	BrainSpLMD|54853;Eurexp|euxassay_010396|liver	
RG-div2	SNHG17	0.264972536	0.004520463			
RG-div2	PITPNB	0.252261208	0.004691418	Transport/cargo protein	BrainSpLMD|23760;Eurexp|euxassay_012385|thymus primordium	OMIM|606876
RG-div2	ANP32B	0.284528798	0.004737551	Unclassified	BrainSpLMD|10541;Eurexp|euxassay_006714|embryo	
RG-div2	CPSF3L	0.459292003	0.004803903			
RG-div2	RP11.556K13.1	0.342434	0.004817162			
RG-div2	UBR7	0.818140476	0.004844642	Unclassified	BrainSpLMD|55148	SFARI||Autism, 5 - Hypothesized but untested;OMIM|613816
RG-div2	SPG20	0.770112304	0.004846162			
RG-div2	WDR75	0.839671695	0.004863035	Unclassified	BrainSpLMD|84128	
RG-div2	MIER3	0.297737499	0.004882747	DNA binding protein	BrainSpLMD|166968	
RG-div2	NOL10	0.561754729	0.005079838	Unclassified	BrainSpLMD|79954	OMIM|616197
RG-div2	HEATR1	0.41637006	0.005086748	Unclassified	BrainSpLMD|55127;Eurexp|euxassay_000061|excretory component, liver, lung, physiological umbilical hernia, skeletal muscle, submandibular gland primordium, testis, thymus primordium, ventricular layer	
RG-div2	CHCHD3	0.366676019	0.005196068	Unclassified	BrainSpLMD|54927;Eurexp|euxassay_001805|lobe, orbito-sphenoid, thymus primordium	OMIM|613748
RG-div2	NUP88	0.312389659	0.005421632	Transport/cargo protein	BrainSpLMD|4927	OMIM|602552
RG-div2	XYLT1	0.580483993	0.005424854	Enzyme: Transferase	BrainSpLMD|64131	OMIM|608124;HPO|64131|Abnormality of the eyelashes, Abnormality of the metaphysis, Accelerated skeletal maturation, Advanced ossification of carpal bones, Anteverted nares, Aplasia/Hypoplasia of the abdominal wall musculature, Autosomal recessive inheritance, Bell-shaped thorax, Blue sclerae, Camptodactyly of finger, Clinodactyly of the 5th finger, Coxa valga, Coxa vara, Depressed nasal bridge, Disproportionate short-limb short stature, Elbow dislocation, Epiphyseal dysplasia, Flat face, Genu recurvatum, Glaucoma, Hypotrichosis, Intellectual disability, Joint hyperflexibility, Joint laxity, Long philtrum, Low-set, posteriorly rotated ears, Metaphyseal widening, Patellar dislocation, Proptosis, Radioulnar synostosis, Relative macrocephaly, Round face, Scoliosis, Severe short stature, Short clavicles, Short long bone, Short metacarpal, Short neck, Short phalanx of finger, Short stature, Small hand, Ventricular septal defect
RG-div2	PCMT1	0.340836466	0.005451635	Enzyme: Methyltransferase	BrainSpLMD|5110	OMIM|176851
RG-div2	UQCRC2	0.260374828	0.00560277	Enzyme: Reductase	BrainSpLMD|7385;Eurexp|euxassay_018923|aorta, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, vibrissa	OMIM|191329;HPO|7385|Autosomal recessive inheritance, Hyperammonemia, Hypoglycemia, Increased serum lactate, Increased serum pyruvate, Metabolic acidosis
RG-div2	GINM1	0.718063816	0.005670759	Integral membrane protein	BrainSpLMD|116254	
RG-div2	GTF2H2C	0.318923034	0.006061272	Unclassified		
RG-div2	TMEM126A	0.436832376	0.006102836	Unclassified	BrainSpLMD|84233	OMIM|612988;HPO|84233|Autosomal recessive inheritance, Central scotoma, Constriction of peripheral visual field, Dyschromatopsia, Optic atrophy, Optic disc pallor, Reduced visual acuity, Variable expressivity, Visual impairment
RG-div2	COA6	0.552637119	0.006307068	Enzyme: Oxidase		OMIM|614772;HPO|388753|Autosomal recessive inheritance, Hypertrophic cardiomyopathy, Lactic acidosis, Left ventricular noncompaction, Muscular hypotonia, Short chin
RG-div2	ADCYAP1R1	0.531197056	0.006319894	G protein coupled receptor	BrainSpLMD|117;Eurexp|euxassay_009317|brain, cervical, cervico-thoracic, medulla, mesenchyme, midgut, oesophagus, spinal cord, stomach, thoracic, tongue, trigeminal V, ventricle, ventricular layer;BrainSpMouseDev|11304	OMIM|102981
RG-div2	EIF3CL	0.315870659	0.006408605			
RG-div2	REPS1	0.256031012	0.006527267	Calcium binding protein	BrainSpLMD|85021;Eurexp|euxassay_000289|cranium, dorsal root ganglion, lung, mantle layer, otic capsule, thymus primordium, ventral grey horn	OMIM|614825
RG-div2	DPF2	0.280512195	0.006556246	DNA binding protein	BrainSpLMD|5977;BrainSpMouseDev|19471	OMIM|601671
RG-div2	RCHY1	0.276628113	0.006684607	Ubiquitin proteasome system protein;Enzyme: Ligase	BrainSpLMD|25898	OMIM|607680
RG-div2	RGPD5	0.718050329	0.006725312	Transport/cargo protein		OMIM|612708
RG-div2	TBCB	0.320903052	0.006727173	Chaperone	BrainSpLMD|1155	OMIM|601303
RG-div2	THOC7	0.37279681	0.006751519	Unclassified	BrainSpLMD|80145;Eurexp|euxassay_012036|submandibular gland primordium, ventricular layer, vibrissa	OMIM|611965
RG-div2	ZZZ3	0.342963273	0.006756589	DNA binding protein	BrainSpLMD|26009	
RG-div2	USP39	0.341665056	0.00679998	Ubiquitin proteasome system protein	BrainSpLMD|10713	OMIM|611594
RG-div2	BPHL	0.435952835	0.006892517	Enzyme: Hydrolase	BrainSpLMD|670;Eurexp|euxassay_000541|atrio-ventricular canal, choroid fissure, choroid invagination, choroid plexus, nasal septum, trigeminal V, turbinate bones, ventricular layer	OMIM|603156
RG-div2	CS	0.300604232	0.006939102	Enzyme: Acyltransferase	BrainSpLMD|1431	OMIM|118950
RG-div2	ELAVL1	0.450007501	0.007171941	RNA binding protein	BrainSpLMD|1994	OMIM|603466
RG-div2	ANAPC4	0.650331102	0.007246208	Cell cycle control protein	BrainSpLMD|29945;Eurexp|euxassay_001474|cervico-thoracic, dorsal root ganglion, thoracic	OMIM|606947
RG-div2	HERPUD1	0.43270669	0.007400969	Integral membrane protein	BrainSpLMD|9709;Eurexp|euxassay_005097|clavicle, mandible, maxilla, olfactory, orbito-sphenoid	OMIM|608070;COSMIC||prostate
RG-div2	CYB5A	0.331108146	0.007414	Enzyme: Oxidoreductase	BrainSpLMD|1528	OMIM|613218;HPO|1528|Abnormality of creatine metabolism, Abnormality of metabolism/homeostasis, Absence of secondary sex characteristics, Autosomal recessive inheritance, Cryptorchidism, Cyanosis, Decreased fertility in females, Decreased fertility in males, Decreased serum estradiol, Decreased serum testosterone level, Decreased testicular size, Delayed puberty, Delayed skeletal maturation, Dysmenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Hypoplasia of the vagina, Hypospadias, Infantile onset, Male pseudohermaphroditism, Methemoglobinemia, Micropenis, Osteoporosis, Primary amenorrhea, Primary gonadal insufficiency, Short stature, Sparse axillary hair, Sparse body hair, Sparse pubic hair
RG-div2	SC5D	0.520967897	0.007792102	Enzyme: Oxidase	BrainSpLMD|6309;Eurexp|euxassay_003227|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X	OMIM|602286;HPO|6309|Abnormal platelet morphology, Abnormality of the thoracic spine, Anisopoikilocytosis, Anteverted nares, Arnold-Chiari malformation, Autosomal recessive inheritance, Biparietal narrowing, Bulbous nose, Cataract, Cerebellar cortical atrophy, Cerebral calcification, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus, Failure to thrive, Full cheeks, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hearing impairment, Hepatic failure, Hepatomegaly, High palate, Horseshoe kidney, Hypoplasia of penis, Increased mean platelet volume, Intrahepatic cholestasis, Intrauterine growth retardation, Long philtrum, Lumbosacral meningocele, Meningocele, Microcephaly, Microcornea, Micrognathia, Muscular hypotonia, Myoclonus, Narrow forehead, Opacification of the corneal stroma, Postaxial foot polydactyly, Postaxial hand polydactyly, Prominent metopic ridge, Ptosis, Seizures, Short nose, Sloping forehead, Specific learning disability, Talipes, Thrombocytopenia, Toe syndactyly
RG-div2	SUMF2	0.293880637	0.007797212	Unclassified	BrainSpLMD|25870	OMIM|607940
RG-div2	RP11.436K8.1	0.491646731	0.007952051			
RG-div2	RPSAP54	0.270471687	0.007967345			
RG-div2	ZNHIT1	0.458235238	0.00807211	Unclassified	BrainSpLMD|10467	
RG-div2	PPM1G	0.398379269	0.008119064	Serine/threonine phosphatase	BrainSpLMD|5496	OMIM|605119
RG-div2	SEC61A1	0.770802777	0.008167164	Integral membrane protein	BrainSpLMD|29927;Eurexp|euxassay_004866|clavicle, cranium, incisor, mandible, maxilla, rib, vibrissa	OMIM|609213;HPO|29927|Anemia, Autosomal dominant inheritance, Chronic kidney disease, Cognitive impairment, Focal segmental glomerulosclerosis, Gout, Intrauterine growth retardation, Nephropathy, Neutropenia, Progressive, Renal cyst, Short stature
RG-div2	TUBGCP3	0.628523075	0.008168621	Cytoskeletal associated protein	BrainSpLMD|10426;Eurexp|euxassay_002145|thymus primordium	
RG-div2	TSPYL4	0.449069525	0.008219022	Unclassified	BrainSpLMD|23270;Eurexp|euxassay_004360|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
RG-div2	DONSON	0.412255796	0.008312609	Unclassified	BrainSpLMD|29980	OMIM|611428;HPO|29980|Abnormality of the hand, Autosomal recessive inheritance, Forearm undergrowth, Intrauterine growth retardation, Microcephaly, Micromelia
RG-div2	ZNF227	0.440446386	0.008373211	DNA binding protein	BrainSpLMD|7770	
RG-div2	AUP1	0.268657738	0.00844355	Unclassified	BrainSpLMD|550	OMIM|602434
RG-div2	C17orf75	0.335500103	0.008495058	Unclassified	BrainSpLMD|64149	
RG-div2	CADM2	0.298554335	0.008570662	Adhesion molecule	BrainSpLMD|253559;Eurexp|euxassay_011528|basioccipital bone, femur, humerus, mantle layer, midbrain, orbito-sphenoid, pelvic girdle, petrous part, scapula, trigeminal V, turbinate	SFARI||Autism, No category;OMIM|609938
RG-div2	SORT1	0.255247306	0.008618249	Cell surface receptor	BrainSpLMD|6272;BrainSpMouseDev|20423	OMIM|602458
RG-div2	PSMA5	0.486295544	0.008623018	Ubiquitin proteasome system protein	BrainSpLMD|5686	OMIM|176844
RG-div2	XPO5	0.428221659	0.008648857	Transport/cargo protein	BrainSpLMD|57510	OMIM|607845
RG-div2	UFSP2	0.282160123	0.008743674	Protease	BrainSpLMD|55325;Eurexp|euxassay_002185|orbito-sphenoid, turbinate	OMIM|611482;HPO|55325|Abnormal ossification involving the femoral head and neck, Abnormality of bone mineral density, Abnormality of the epiphysis of the femoral head, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Broad femoral neck, Childhood onset, Flat capital femoral epiphysis, Hip dysplasia, Irregular capital femoral epiphysis, Osteoarthritis, Shallow acetabular fossae, Wide proximal femoral metaphysis
RG-div2	RNF114	0.346432642	0.009091976	Ubiquitin proteasome system protein	BrainSpLMD|55905	OMIM|612451
RG-div2	RABGGTB	0.580315188	0.00925562	Enzyme: Prenyltransferase	BrainSpLMD|5876	OMIM|179080
RG-div2	COMMD1	0.430012604	0.009868173	Unclassified	BrainSpLMD|150684	OMIM|607238
MGE-RG1	IL33	3.651158403	0	Unclassified	Eurexp|euxassay_011591|capsule, cortex, endolymphatic duct, lip, mesentery, midgut, olfactory, skeletal muscle, utricle	OMIM|608678
MGE-RG1	NES	2.553153724	0	Cytoskeletal protein	BrainSpLMD|10763;Eurexp|euxassay_017860|calyces, diaphragm, head mesenchyme, meninges, mesenchyme, skeletal muscle, tongue, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|17775	OMIM|600915
MGE-RG1	WWTR1	2.278408894	0	Transcription regulatory protein	BrainSpLMD|25937;Eurexp|euxassay_000592|limb, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|61234	OMIM|607392;COSMIC||epithelioid haemangioendothelioma
MGE-RG1	LIX1	2.212199244	0	Unclassified	BrainSpLMD|167410	OMIM|610466
MGE-RG1	GPR98	2.149646961	0			
MGE-RG1	ATP1A2	2.082820013	0	ATPase	BrainSpLMD|477;Eurexp|euxassay_001505|brain, cervical, cervico-thoracic, cochlea, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mesenchyme, naris, neural retina, spinal cord, stroma, thoracic, tongue, trigeminal V, turbinate bones, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|62830	OMIM|182340;HPO|477|Abnormality of movement, Aphasia, Apraxia, Ataxia, Autosomal dominant inheritance, Blurred vision, Choreoathetosis, Coma, Confusion, Diplopia, Drowsiness, Dysarthria, Dysphasia, Dystonia, Episodic ataxia, Episodic hemiplegia, Episodic quadriplegia, Fever, Generalized tonic-clonic seizures, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Heterogeneous, Incomplete penetrance, Intellectual disability, Mental deterioration, Migraine with aura, Nystagmus, Seizures, Transient unilateral blurring of vision, Vertigo
MGE-RG1	MGAT4C	1.985703666	0	Enzyme: Glucosaminyltransferase	BrainSpLMD|25834	OMIM|607385
MGE-RG1	DDAH1	1.749666022	0	Enzyme: Hydrolase	BrainSpLMD|23576;Eurexp|euxassay_003952|mantle layer, ventral grey horn, ventricular layer	OMIM|604743
MGE-RG1	SEMA5A	1.562189834	0	Unclassified	BrainSpLMD|9037;BrainSpMouseDev|20119	SFARI||Autism, 3 - Suggestive evidence;OMIM|609297;HPO|9037|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
MGE-RG1	ZFP36L1	1.498268224	0	Transcription factor	BrainSpLMD|677;Eurexp|euxassay_007310|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|11978	OMIM|601064
MGE-RG1	FAM171B	1.445480823	0	Integral membrane protein	BrainSpLMD|165215;Eurexp|euxassay_008581|dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, ventricular layer, vestibulocochlear VIII	
MGE-RG1	CLU	1.445300078	0	Complement protein	BrainSpLMD|1191;BrainSpMouseDev|12543	OMIM|185430
MGE-RG1	PON2	1.422912394	0	Enzyme: Esterase	BrainSpLMD|5445	OMIM|602447;HPO|5445|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
MGE-RG1	SOX2.OT	1.26803306	0			
MGE-RG1	SPARC	1.098131905	0	Secreted polypeptide	BrainSpLMD|6678;BrainSpMouseDev|20454	OMIM|182120;HPO|6678|Autosomal recessive inheritance, Decreased muscle mass, Delayed speech and language development, Motor delay, Muscle weakness, Muscular hypotonia, Osteoporosis, Scoliosis, Short stature, Soft skin, Thin metacarpal cortices, Vertebral compression fractures
MGE-RG1	SLC7A11	3.138372507	1.11E-16	Membrane transport protein	BrainSpLMD|23657;Eurexp|euxassay_012149|choroid invagination, lens, meninges, olfactory, ventricular layer	OMIM|607933
MGE-RG1	LIPG	2.178776641	1.11E-16	Enzyme: Lipase	BrainSpLMD|9388;Eurexp|euxassay_018714|4th ventricle, incisor, larynx, lung, metanephros, midgut, molar, naris, nasal septum, olfactory, rectum, respiratory, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|603684
MGE-RG1	CREB5	1.812388713	1.11E-16	Transcription factor	BrainSpLMD|9586;Eurexp|euxassay_016386|axial skeleton, oral epithelium	
MGE-RG1	ANXA2	1.334126938	7.77E-16	Calcium binding protein	BrainSpLMD|302;Eurexp|euxassay_013682|basal plate, mantle layer, ventral grey horn;BrainSpMouseDev|12091	OMIM|151740
MGE-RG1	TRIM9	2.425262921	8.88E-16	Unclassified	BrainSpLMD|114088;Eurexp|euxassay_010509|mantle layer, molar, ventricular layer	OMIM|606555
MGE-RG1	SOX9	0.969917951	1.33E-15	Transcription factor	BrainSpLMD|6662;Eurexp|euxassay_002633|axial skeleton, basisphenoid bone, calyces, exoccipital bone, femur, lung, mesenchyme, naris, nasal septum, nucleus pulposus, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, pharyngo-tympanic tube, trachea, turbinate, ventricular layer, vibrissa;BrainSpMouseDev|20444	OMIM|608160;HPO|6662|11 pairs of ribs, Abnormal heart morphology, Abnormal scrotal rugation, Abnormal sex determination, Abnormality of male internal genitalia, Abnormality of the labia, Abnormality of the pharynx, Abnormality of the scrotum, Abnormality of the uterus, Absent sternal ossification, Ambiguous genitalia, Anterior tibial bowing, Apnea, Autosomal dominant inheritance, Azoospermia, Bifid scrotum, Blepharophimosis, Cleft palate, Clitoral hypertrophy, Cryptorchidism, Decreased fertility, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Depressed nasal bridge, Depressed nasal ridge, Disproportionate short-limb short stature, Dysgerminoma, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Failure to thrive, Female external genitalia in individual with 46,XY karyotype, Femoral bowing, Fibular hypoplasia, Flat face, Generalized hypotonia, Glossoptosis, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hearing impairment, High forehead, Hip dislocation, Hydrocephalus, Hydronephrosis, Hypergonadotropic hypogonadism, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the vagina, Hypoplastic cervical vertebrae, Hypoplastic iliac wing, Hypoplastic inferior ilia, Hypoplastic scapulae, Hypospadias, Kyphoscoliosis, Laryngomalacia, Low-set ears, Macrocephaly, Male hypogonadism, Male infertility, Male pseudohermaphroditism, Micrognathia, Micropenis, Narrow chest, Neonatal respiratory distress, Neonatal short-limb short stature, Osteoporosis, Polycystic ovaries, Polyhydramnios, Poorly ossified cervical vertebrae, Primary amenorrhea, Proptosis, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Scrotal hypoplasia, Sex reversal, Short neck, Short palpebral fissure, Short stature, Shortening of all phalanges of fingers, Shortening of all phalanges of the toes, Skin dimples, Small abnormally formed scapulae, Small face, Sparse axillary hair, Sparse pubic hair, Streak ovary, Talipes equinovarus, Testicular dysgenesis, Thin ribs, Thoracic hypoplasia, Tibial bowing, Tracheobronchomalacia, True hermaphroditism, Upper airway obstruction, Urogenital sinus anomaly, Vanishing testis, Wide anterior fontanel
MGE-RG1	VEPH1	2.699523867	2.11E-15	Unclassified	BrainSpLMD|79674	OMIM|609594
MGE-RG1	PDGFRB	2.400796386	2.66E-15	Receptor tyrosine kinase	BrainSpLMD|5159;BrainSpMouseDev|18362	OMIM|173410;COSMIC||MPN, AML, CMML, CML;HPO|5159|Abnormality of connective tissue, Abnormality of neuronal migration, Abnormality of the hair, Abnormality of the metaphysis, Abnormality of the musculature, Abnormality of the skull, Abnormality of the thorax, Adult onset, Athetosis, Autosomal dominant inheritance, Basal ganglia calcification, Bone cyst, Brachydactyly, Bradykinesia, Calcification of the small brain vessels, Cerebral calcification, Chondrocalcinosis, Chorea, Corneal opacity, Delayed cranial suture closure, Delayed eruption of teeth, Delayed skeletal maturation, Dense calcifications in the cerebellar dentate nucleus, Depressivity, Downslanted palpebral fissures, Dysarthria, Dysdiadochokinesis, Dystonia, Eosinophilia, Fibroma, Fragile skin, Gait disturbance, Gingival fibromatosis, Growth abnormality, Hepatomegaly, Hyperextensible skin, Hyperkeratosis, Hypermetropia, Hyperreflexia, Hypoplasia of the maxilla, Increased thyroid-stimulating hormone level, Intrauterine growth retardation, Limb dysmetria, Lipoatrophy, Long foot, Malignant eosinophil proliferation, Mask-like facies, Memory impairment, Mental deterioration, Microcephaly, Micrognathia, Midface retrusion, Myeloproliferative disorder, Narrow nose, Neoplasm of the lung, Neoplasm of the skin, Osteolytic defects of the phalanges of the hand, Osteopenia, Overgrowth, Parkinsonism, Pointed chin, Postural instability, Progressive, Progressive neurologic deterioration, Prominent forehead, Prominent nasal bridge, Prominent supraorbital ridges, Proptosis, Psychosis, Ptosis, Rigidity, Seizures, Sensorineural hearing impairment, Slender long bone, Sparse hair, Subcutaneous hemorrhage, Subcutaneous nodule, Thin calvarium, Thin skin, Thin upper lip vermilion, Thin vermilion border, Thoracolumbar scoliosis, Thrombocytopenia, Tremor, Urinary incontinence, Ventriculomegaly, Wide nasal bridge
MGE-RG1	VIM	1.233715765	6.00E-15	Cytoskeletal protein	BrainSpLMD|7431	OMIM|193060;HPO|7431|Autosomal dominant inheritance, Congenital onset, Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract
MGE-RG1	SOX2	1.464097732	6.99E-15	Transcription factor	Eurexp|euxassay_019525|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lung, mantle layer, medulla, midgut, neural retina, oesophagus, olfactory, oral epithelium, pituitary, saccule, stomach, testis, trachea, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|20436	OMIM|184429;COSMIC||NSCLC, oesophageal squamous carcinoma, Microphthalmia and oesophageal atresia syndrome;HPO|6657|Agenesis of corpus callosum, Anophthalmia, Anterior pituitary hypoplasia, Autosomal dominant inheritance, Butterfly vertebrae, Cleft palate, Coloboma, Cryptorchidism, Esophageal atresia, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hemivertebrae, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypospadias, Hypothalamic hamartoma, Microcephaly, Micropenis, Microphthalmia, Missing ribs, Nystagmus, Optic nerve hypoplasia, Patent ductus arteriosus, Postnatal growth retardation, Rib fusion, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Short stature, Spastic diplegia, Spastic tetraplegia, Specific learning disability, Strabismus, Supernumerary ribs, Tracheoesophageal fistula, Ventricular septal defect, Vertebral fusion, Vertebral hypoplasia, Visual impairment, Visual loss
MGE-RG1	LRP2	2.832170047	8.66E-15	Cell surface receptor	BrainSpLMD|4036;Eurexp|euxassay_013970|calyces, cochlea, olfactory, utricle, ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|600073;HPO|4036|Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Broad forehead, Broad nasal tip, Congenital diaphragmatic hernia, Depressed nasal bridge, Downslanted palpebral fissures, Global developmental delay, Hypertelorism, Infra-orbital crease, Intellectual disability, Low-set ears, Macrocephaly, Malar flattening, Midface retrusion, Myopia, Omphalocele, Partial agenesis of the corpus callosum, Posteriorly rotated ears, Progressive visual loss, Proptosis, Proteinuria, Retinal detachment, Retinal dystrophy, Sensorineural hearing impairment, Short nose, Umbilical hernia, Wide anterior fontanel, Widow's peak
MGE-RG1	AASS	1.470769106	1.17E-14	Enzyme: Oxidoreductase;Enzyme: Synthase	BrainSpLMD|10157	OMIM|605113;HPO|10157|Abnormality of the genitourinary system, Anemia, Autosomal recessive inheritance, Cognitive impairment, Delayed speech and language development, EEG abnormality, Ectopia lentis, Histidinuria, Hyperactivity, Hyperlysinemia, Hyperlysinuria, Infantile onset, Intellectual disability, Intellectual disability, mild, Muscular hypotonia, Phenotypic variability, Seizures, Short attention span, Short stature, Spastic diplegia
MGE-RG1	HES1	1.250029851	1.35E-14	Transcription factor	BrainSpLMD|3280;Eurexp|euxassay_019489|epithelium, floor plate, floorplate, hindgut, incisor, larynx, lung, metanephros, metatarsus, midgut, molar, neural retina, oesophagus, olfactory, oral epithelium, pancreas, phalanx, pharyngo-tympanic tube, skeleton, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|14981	OMIM|139605
MGE-RG1	SFRP1	1.542002013	1.90E-14	Secreted polypeptide	BrainSpLMD|6422;BrainSpMouseDev|20140	OMIM|604156
MGE-RG1	AAED1	1.460465875	2.14E-14	Unclassified		
MGE-RG1	ATP1B2	1.458311732	4.71E-14	ATPase	BrainSpLMD|482;Eurexp|euxassay_011653|lobe, pituitary, ventral grey horn, ventricular layer;BrainSpMouseDev|11718	OMIM|182331
MGE-RG1	FGFR2	2.151670951	7.15E-14	Receptor tyrosine kinase	BrainSpLMD|2263;BrainSpMouseDev|13960	OMIM|176943;COSMIC||gastric, NSCLC, endometrial, Crouzon, Pfeiffer, and Apert syndromes;HPO|2263|2-3 finger syndactyly, 2-3 toe syndactyly, Abnormal facial shape, Abnormal heart morphology, Abnormal morphology of the limbic system, Abnormal renal morphology, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the cervical spine, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the palate, Abnormality of the pancreas, Abnormality of the periosteum, Abnormality of the pinna, Abnormality of the ribs, Absence of Stensen duct, Absent first metatarsal, Absent lacrimal punctum, Absent proximal phalanx of thumb, Absent radius, Absent septum pellucidum, Acanthosis nigricans, Acne, Acrobrachycephaly, Agenesis of corpus callosum, Alacrima, Anomalous tracheal cartilage, Anteriorly placed anus, Anteverted nares, Aplasia of the parotid gland, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Arachnodactyly, Arachnoid cyst, Arnold-Chiari malformation, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Bicoronal synostosis, Bifid scrotum, Bifid uvula, Bilateral single transverse palmar creases, Bilateral triphalangeal thumbs, Blepharospasm, Brachycephaly, Brachydactyly, Brachyturricephaly, Breast carcinoma, Broad distal hallux, Broad distal phalanx of the thumb, Broad forehead, Broad hallux, Broad hallux phalanx, Broad metatarsal, Broad thumb, Bronchomalacia, Buphthalmos, Calcaneonavicular fusion, Camptodactyly, Camptodactyly of finger, Carious teeth, Cartilaginous trachea, Cerebellar hypoplasia, Cervical C5/C6 vertebrae fusion, Choanal atresia, Choanal stenosis, Chronic otitis media, Cleft of chin, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Cloverleaf skull, Conductive hearing impairment, Congenital stationary night blindness, Conical incisor, Conjunctivitis, Convex nasal ridge, Corneal perforation, Coronal craniosynostosis, Coronal hypospadias, Craniofacial dysostosis, Craniosynostosis, Cryptorchidism, Cupped ear, Cutaneous finger syndactyly, Dacryocystitis, Decreased calvarial ossification, Delayed cranial suture closure, Delayed eruption of primary teeth, Delayed eruption of teeth, Dental crowding, Dental malocclusion, Depressed nasal bridge, Deviation of the thumb, Dolichocephaly, Downslanted palpebral fissures, Dysgerminoma, Ectopic anus, Elbow ankylosis, Esophageal atresia, External ear malformation, Extramedullary hematopoiesis, Facial asymmetry, Feeding difficulties in infancy, Femoral bowing, Finger syndactyly, Flat face, Flat forehead, Frontal bossing, Fused labia minora, Gingival overgrowth, Global developmental delay, Growth abnormality, Hallux valgus, Hallux varus, Hearing abnormality, Hearing impairment, High forehead, High palate, Hirsutism, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hyperextensible skin, Hyperlordosis, Hypertelorism, Hypertension, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the lacrimal puncta, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplasia of the zygomatic bone, Hypoplastic ischia, Hypoplastic labia majora, Hypoplastic lacrimal duct, Incomplete ossification of pubis, Increased intracranial pressure, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Joint stiffness, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Lambdoidal craniosynostosis, Large fontanelles, Laryngomalacia, Limitation of joint mobility, Limited elbow extension, Long nose, Long philtrum, Low anterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Malar flattening, Mandibular prognathia, Megalencephaly, Megalocornea, Melanocytic nevus, Metopic depression, Micrognathia, Microtia, Midface retrusion, Mixed hearing impairment, Morphological abnormality of the semicircular canal, Multiple suture craniosynostosis, Narrow chest, Narrow internal auditory canal, Narrow nose, Narrow palate, Narrow pelvis bone, Nasolacrimal duct obstruction, Natal tooth, Nephrosclerosis, Open bite, Optic atrophy, Osteopenia, Overfolding of the superior helices, Overriding aorta, Oxycephaly, Palmoplantar cutis gyrata, Palmoplantar cutis laxa, Palmoplantar keratoderma, Parietal foramina, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of the distal phalanx of the 3rd finger, Partial duplication of thumb phalanx, Periorbital fullness, Plagiocephaly, Posterior fossa cyst, Preauricular skin furrow, Preaxial polydactyly, Prominent crus of helix, Prominent nasal bridge, Prominent scrotal raphe, Proptosis, Ptosis, Pyloric stenosis, Radial deviation of the 3rd finger, Radioulnar synostosis, Recurrent corneal erosions, Reduced number of teeth, Renal agenesis, Respiratory distress, Rocker bottom foot, Sagittal craniosynostosis, Seizures, Shallow orbits, Short clavicles, Short foot, Short hallux, Short metatarsal, Short middle phalanx of toe, Short nose, Short palm, Short stature, Shortening of all middle phalanges of the fingers, Skull asymmetry, Sleep apnea, Small hand, Small nail, Small thenar eminence, Somatic mutation, Steep acetabular roof, Stenosis of the external auditory canal, Stomach cancer, Strabismus, Subcutaneous nodule, Syndactyly, Synostosis of carpal bones, Telecanthus, Toe syndactyly, Tracheomalacia, Turricephaly, Ulnar bowing, Underdeveloped supraorbital ridges, Upper airway obstruction, Vaginal atresia, Variable expressivity, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide anterior fontanel, Xerostomia
MGE-RG1	PEA15	1.413998097	7.35E-14	Transport/cargo protein	BrainSpLMD|8682;Eurexp|euxassay_011580|neural retina, ventral grey horn, ventricular layer	OMIM|603434
MGE-RG1	HES5	1.379646073	9.30E-14	DNA binding protein	Eurexp|euxassay_019477|intermediate grey horn, metanephros, neural retina, olfactory, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|14984	OMIM|607348
MGE-RG1	CDK6	1.546888955	1.32E-13	Cell cycle control protein	BrainSpLMD|1021	OMIM|603368;COSMIC||ALL;HPO|1021|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Cortical gyral simplification, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-RG1	ZFP36L2	2.080452132	2.37E-13	Transcription factor	BrainSpLMD|678	OMIM|612053
MGE-RG1	GHR	3.494108345	3.27E-13	Cell surface receptor	BrainSpLMD|2690	OMIM|600946;HPO|2690|Abnormal facial shape, Abnormal joint morphology, Abnormality of metabolism/homeostasis, Abnormality of the elbow, Aplasia/Hypoplasia involving the nose, Autosomal recessive inheritance, Brachydactyly, Decreased serum insulin-like growth factor 1, Delayed eruption of teeth, Delayed menarche, Delayed puberty, Delayed skeletal maturation, High forehead, High pitched voice, Hypoglycemia, Hypoplasia of penis, Hypoplastic nasal bridge, Microdontia, Micrognathia, Motor delay, Reduced number of teeth, Severe short stature, Short long bone, Short stature, Short toe, Small face, Truncal obesity, Underdeveloped supraorbital ridges
MGE-RG1	SLIT2	1.788395532	3.33E-13	Ligand	BrainSpLMD|9353;BrainSpMouseDev|20325	OMIM|603746
MGE-RG1	PYGL	1.564666647	4.47E-13	Enzyme: Phosphorylase	BrainSpLMD|5836	OMIM|613741;HPO|5836|Autosomal recessive inheritance, Hepatomegaly, Hyperlipidemia, Hypoglycemia, Increased hepatic glycogen content, Postnatal growth retardation, Short stature
MGE-RG1	ANGPT1	2.884817961	6.25E-13	Growth factor	BrainSpLMD|284;BrainSpMouseDev|11387	OMIM|601667
MGE-RG1	CDO1	1.693000421	7.59E-13	Enzyme: Oxidoreductase	BrainSpLMD|1036	OMIM|603943
MGE-RG1	TC2N	2.756648885	1.37E-12	Transport/cargo protein	BrainSpLMD|123036	
MGE-RG1	PPAP2B	1.801373431	1.62E-12			
MGE-RG1	RORB	1.302210519	1.78E-12	Transcription factor	BrainSpLMD|6096;Eurexp|euxassay_002725|diencephalon, dorsal grey horn, hindbrain, marginal layer, midbrain, neural retina, ventricular layer;BrainSpMouseDev|86335	OMIM|601972
MGE-RG1	DNAH7	3.287157	3.88E-12	Motor protein	BrainSpLMD|56171;Eurexp|euxassay_014217|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610061
MGE-RG1	LITAF	1.756008138	3.91E-12	Transcription factor	BrainSpLMD|9516;Eurexp|euxassay_013657|axial skeleton, incisor, molar, submandibular gland primordium, urethra, ventricular layer, vestibular component, vibrissa	OMIM|603795;HPO|9516|Autosomal dominant inheritance, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Juvenile onset, Onion bulb formation, Pes cavus, Segmental peripheral demyelination/remyelination
MGE-RG1	YBX3	1.992745698	5.42E-12	DNA binding protein	BrainSpLMD|8531	OMIM|603437
MGE-RG1	SEPP1	2.310710359	7.34E-12			
MGE-RG1	NTN1	2.078553008	1.63E-11	Chemokine	BrainSpLMD|9423;Eurexp|euxassay_007630|axial skeleton, cortex, dorsal grey horn, extrinsic ocular muscle, hindgut, lung, mantle layer, midgut, oesophagus, olfactory, saccule, skeletal muscle, stomach, tongue, ventral grey horn, ventricle, ventricular layer, vibrissa;BrainSpMouseDev|17975	OMIM|601614
MGE-RG1	MGST1	2.084026356	1.77E-11	Enzyme: Glutathione transferase	BrainSpLMD|4257;Eurexp|euxassay_002928|adrenal gland, anal canal, axial muscle, bladder, calyces, ductus deferens, epidermis, foregut-midgut junction, head mesenchyme, hindgut, left lung, limb, lobe, marginal layer, midgut, naris, nasal capsule, nucleus pulposus, oesophagus, olfactory, pancreas, pelvis, pituitary, rectum, right lung, stomach, submandibular gland primordium, trachea, urethra, ventricular layer, vibrissa	OMIM|138330
MGE-RG1	CNN3	1.190744043	2.75E-11	Cytoskeletal associated protein	BrainSpLMD|1266;Eurexp|euxassay_009765|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|602374
MGE-RG1	SPON1	3.237662781	3.89E-11	Extracellular matrix protein	BrainSpLMD|10418;Eurexp|euxassay_009887|aorta, mandible, mantle layer, marginal layer, maxilla, pharyngo-tympanic tube, ventral grey horn, ventricular layer	OMIM|604989
MGE-RG1	ABI3BP	2.586330224	1.02E-10	Unclassified	BrainSpLMD|25890;Eurexp|euxassay_013992|mesenchyme, olfactory, stomach	OMIM|606279
MGE-RG1	TENM1	2.275225856	1.77E-10	Integral membrane protein	BrainSpLMD|10178	OMIM|300588
MGE-RG1	PAM	1.298178087	2.04E-10	Enzyme: Oxygenase	BrainSpLMD|5066;Eurexp|euxassay_007685|atrium, axial skeleton, dorsal grey horn, dorsal root ganglion, extrinsic ocular muscle, eyelid, floorplate, glossopharyngeal IX, hindgut, incisor, inner ear, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 4 and 5, lip, mandible, mantle layer, maxilla, medulla, midgut, molar, neural retina, oesophagus, palatal shelf, pancreas, skeletal muscle, stomach, thyroid, trachea, trigeminal V, vagus X, ventricle, ventricular layer, vibrissa	OMIM|170270
MGE-RG1	ANXA2P2	1.182034777	2.07E-10		BrainSpLMD|304	
MGE-RG1	FKBP10	1.356914454	2.77E-10	Unclassified	BrainSpLMD|60681	OMIM|607063;HPO|60681|Abnormality of the skin, Ankle contracture, Aplasia/Hypoplasia of the patella, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Biconcave vertebral bodies, Blue sclerae, Brachycephaly, Coxa vara, Dentinogenesis imperfecta, Elbow flexion contracture, Elevated alkaline phosphatase, Gait disturbance, Hip contracture, Increased susceptibility to fractures, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Protrusio acetabuli, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes, Talipes equinovarus, Triangular face, Vertebral compression fractures, Vertebral wedging, Wormian bones
MGE-RG1	ZHX2	1.656006184	3.84E-10	Transcription factor	BrainSpLMD|22882;BrainSpMouseDev|122629	OMIM|609185
MGE-RG1	RP11.587D21.1	1.948747573	4.03E-10			
MGE-RG1	AP001172.2	1.192718644	4.41E-10			
MGE-RG1	TNC	0.676995491	5.38E-10	Adhesion molecule	BrainSpLMD|3371;Eurexp|euxassay_009501|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, cochlea, cochlear duct, diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, fibula, handplate, humerus, lip, lung, mandible, mantle layer, maxilla, maxillary division, mesenchyme, molar, nasal septum, oesophagus, orbito-sphenoid, palatal shelf, pelvic girdle, penis, pharyngo-tympanic tube, rib, scapula, skeletal muscle, sternum, temporal bone, thymus primordium, tibia, tongue, trigeminal V, vault of skull, ventral grey horn, ventricle, ventricular layer, vibrissa;BrainSpMouseDev|21680	OMIM|187380;COSMIC||SCC, melanoma;HPO|3371|Autosomal dominant inheritance, Hearing impairment
MGE-RG1	WSB1	0.602381874	6.47E-10	Unclassified	BrainSpLMD|26118;Eurexp|euxassay_005031|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610091
MGE-RG1	AHI1	1.482989902	8.44E-10	Adapter molecule	BrainSpLMD|54806;Eurexp|euxassay_005590|brain, cervical, cervico-thoracic, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V;BrainSpMouseDev|32386	SFARI||Autism, No category;OMIM|608894;HPO|54806|Abnormal electroretinogram, Anteverted nares, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Central apnea, Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Enlarged fossa interpeduncularis, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Heterogeneous, Highly arched eyebrow, Intellectual disability, Long face, Low-set ears, Molar tooth sign on MRI, Motor delay, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nystagmus, Oculomotor apraxia, Open mouth, Pigmentary retinopathy, Ptosis, Retinal dystrophy, Stage 5 chronic kidney disease, Visual impairment, Wide nasal bridge
MGE-RG1	SPECC1	1.805517891	1.21E-09	Unclassified	BrainSpLMD|92521;Eurexp|euxassay_013924|aorta, liver, molar, ventricular layer	OMIM|608793;COSMIC||JMML
MGE-RG1	CYR61	1.558089508	1.54E-09	Extracellular matrix protein	BrainSpLMD|3491;BrainSpMouseDev|15780	OMIM|602369
MGE-RG1	C2orf72	2.157173248	1.65E-09	Unclassified	Eurexp|euxassay_008051|left, right, ventricular layer	
MGE-RG1	PTPN14	2.430488828	1.65E-09	Tyrosine phosphatase	BrainSpLMD|5784;Eurexp|euxassay_009623|axial skeleton, metanephros, nasal septum, oesophagus, submandibular gland primordium, vibrissa	OMIM|603155;HPO|5784|Autosomal recessive inheritance, Choanal atresia, High palate, Lymphedema, Pericardial effusion
MGE-RG1	PLXDC2	1.648014648	1.99E-09	Cell surface receptor	BrainSpLMD|84898;Eurexp|euxassay_002573|body-wall mesenchyme, choroid plexus, cochlear duct, diaphragm, epidermis, epithelium, humerus, mantle layer, submandibular gland primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|606827
MGE-RG1	WLS	2.200194547	4.52E-09	Integral membrane protein	BrainSpLMD|79971	OMIM|611514
MGE-RG1	SLITRK2	1.063294861	5.69E-09	Integral membrane protein	BrainSpLMD|84631;Eurexp|euxassay_012159|dorsal root ganglion, facial VII, glossopharyngeal IX, marginal layer, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|300561
MGE-RG1	TTYH1	1.245011747	5.92E-09	Ion channel	BrainSpLMD|57348;Eurexp|euxassay_018316|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|37048	OMIM|605784
MGE-RG1	ADHFE1	2.372822006	6.35E-09	Enzyme: Dehydrogenase	BrainSpLMD|137872;Eurexp|euxassay_018617|basisphenoid bone, calyces, exoccipital bone, meninges, nucleus pulposus, orbito-sphenoid, otic capsule, pectoral girdle and thoracic body wall, rib, skeletal muscle, supraoccipital cartilage condensation, turbinate, turbinate bones, ventral grey horn, ventricular layer	OMIM|611083
MGE-RG1	ITGB8	0.907546617	7.70E-09	Cell surface receptor	BrainSpLMD|3696;Eurexp|euxassay_011385|axial skeleton, brachial plexus, nasal cavity, optic chiasma, optic nerve, phalanx, submandibular gland primordium, testis, valve, ventricular layer, vibrissa;BrainSpMouseDev|107845	OMIM|604160
MGE-RG1	FBLN5	2.523442139	8.92E-09	Extracellular matrix protein	BrainSpLMD|10516;Eurexp|euxassay_002515|aorta, body-wall mesenchyme, cervical region, clavicle, cranium, diaphragm, head mesenchyme, leg, lip, lumbar region, mandible, maxilla, mesenchyme, oesophagus, premaxilla, rib, sacral region, thoracic region, tongue, vibrissa	OMIM|604580;HPO|10516|Abnormality of the face, Aortic aneurysm, Arachnodactyly, Arterial fibromuscular dysplasia, Arterial stenosis, Atelectasis, Autosomal dominant inheritance, Autosomal recessive inheritance, Bladder diverticulum, Bowel diverticulosis, Choroidal neovascularization, Congenital diaphragmatic hernia, Cutis laxa, Delayed cranial suture closure, Dilatation of ascending aorta, Distal sensory impairment, Drusen, Emphysema, Full cheeks, Heterogeneous, Hypertelorism, Ileus, Inguinal hernia, Joint hyperflexibility, Joint laxity, Microcephaly, Mitral regurgitation, Oligohydramnios, Overgrowth, Pectus excavatum, Pes cavus, Premature skin wrinkling, Ptosis, Recurrent respiratory infections, Recurrent urinary tract infections, Redundant skin, Renal diverticulum, Scoliosis, Supravalvular aortic stenosis, Umbilical hernia, Vascular tortuosity
MGE-RG1	DLGAP1	1.394544079	8.98E-09	Unclassified	BrainSpLMD|9229	SFARI||Autism, No category;OMIM|605445
MGE-RG1	TMTC2	1.726808765	9.37E-09	Integral membrane protein	BrainSpLMD|160335;Eurexp|euxassay_011308|axial skeleton, bladder, brain, capsule, clavicle, cornea, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, hindgut, mandible, maxilla, midgut, oesophagus, olfactory, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, rib, skeletal muscle, spinal cord, stomach, tibia, trigeminal V, ureter, vagus X, valve, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|615856
MGE-RG1	SLC35F1	0.907171555	9.54E-09	Integral membrane protein	Eurexp|euxassay_019705|dorsal root ganglion, embryo, glossopharyngeal IX, intermediate grey horn, mantle layer, rest of cerebellum, trigeminal V, ventral grey horn, ventricular layer	
MGE-RG1	LINC00998	1.276400729	9.77E-09			
MGE-RG1	LDB2	1.450988426	1.08E-08	Transcription regulatory protein	BrainSpLMD|9079;BrainSpMouseDev|16597	OMIM|603450
MGE-RG1	PDLIM5	1.910746847	1.40E-08	Adapter molecule	BrainSpLMD|10611;Eurexp|euxassay_011640|alar columns, axial skeleton, bladder, choroid plexus, clavicle, dorsal grey horn, floor plate, floorplate, mesenchyme, metanephros, midgut, oesophagus, stomach, submandibular gland primordium, trachea, urethra, ventral grey horn, ventricular layer	OMIM|605904
MGE-RG1	IQGAP2	1.778681755	1.84E-08	GTPase activating protein	BrainSpLMD|10788;Eurexp|euxassay_013405|adrenal gland, incisor, intervertebral disc, lobe, mandible, mesenchyme, metanephros, midgut, oesophagus, skeletal muscle, stomach, thymus primordium, ventricular layer, vertebral axis muscle system, vertebral cartilage condensation	OMIM|605401
MGE-RG1	SGK3	2.281747028	2.32E-08	Serine/threonine kinase	BrainSpLMD|23678	OMIM|607591
MGE-RG1	PNISR	0.863175267	2.50E-08	Unclassified	BrainSpLMD|25957;Eurexp|euxassay_011305|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|616653
MGE-RG1	VCAM1	1.748737609	2.51E-08	Adhesion molecule	BrainSpLMD|7412	OMIM|192225
MGE-RG1	SAMD4A	2.130862243	2.59E-08	Unclassified	BrainSpLMD|23034	OMIM|610747
MGE-RG1	PDGFD	1.868031832	3.50E-08	Growth factor	BrainSpLMD|80310;BrainSpMouseDev|47626	OMIM|609673
MGE-RG1	EPHA4	0.97135512	3.67E-08	Receptor tyrosine kinase	BrainSpLMD|2043;BrainSpMouseDev|13616	OMIM|602188;HPO|2043|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
MGE-RG1	PRDM16	1.725240307	4.90E-08	Transcription factor	BrainSpLMD|63976	OMIM|605557;COSMIC||MDS, AML;HPO|63976|Abnormal morphology of the left ventricle, Absent speech, Agenesis of corpus callosum, Autism, Autosomal dominant inheritance, Brachycephaly, Brachydactyly, Camptodactyly of finger, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Congestive heart failure, Constipation, Deeply set eye, Delayed cranial suture closure, Depressed nasal bridge, Depressed nasal ridge, Dilated cardiomyopathy, Dysphagia, EEG abnormality, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Gait disturbance, Gastroesophageal reflux, Global developmental delay, High-grade hypermetropia, Horizontal eyebrow, Intellectual disability, Left ventricular noncompaction, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Midface retrusion, Muscular hypotonia, Narrow mouth, Pointed chin, Poor speech, Seizures, Self-injurious behavior, Short foot, Stereotypy, Strabismus, Ventriculomegaly, Wide nasal bridge
MGE-RG1	NOG	1.67733588	5.05E-08	Secreted polypeptide	BrainSpLMD|9241;Eurexp|euxassay_009618|axial skeleton, mandible, mantle layer, nasal septum, otic capsule, phalanx, rib, sternum, thyroid, turbinate bones, ventral grey horn;BrainSpMouseDev|17888	OMIM|602991;HPO|9241|2-3 toe syndactyly, Abnormal vertebral morphology, Abnormality of the ankles, Absent distal interphalangeal creases, Absent distal phalanges, Absent fingernail, Absent phalangeal crease, Anonychia, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the nails, Aplastic/hypoplastic toenail, Autosomal dominant inheritance, Brachydactyly, Broad hallux, Broad thumb, Camptodactyly of finger, Carpal synostosis, Clinodactyly, Conductive hearing impairment, Congenital stapes ankylosis, Cubitus valgus, Cutaneous finger syndactyly, Cutaneous syndactyly of toes, Dislocated radial head, Elbow ankylosis, Elbow dislocation, Enlargement of the costochondral junction, Finger syndactyly, Fusion of midphalangeal joints, Hypermetropia, Hypoplastic nasal septum, Hypoplastic spinal processes, Long nose, Low hanging columella, Lower limb undergrowth, Metacarpophalangeal synostosis, Narrow face, Pectus excavatum, Progressive conductive hearing impairment, Progressive fusion 2nd-5th pip joints, Proximal placement of thumb, Proximal symphalangism, Proximal symphalangism of hands, Proximal/middle symphalangism of 5th finger, Radial deviation of finger, Sensorineural hearing impairment, Short 1st metacarpal, Short 5th metacarpal, Short distal phalanx of finger, Short distal phalanx of toe, Short finger, Short foot, Short hallux, Short humerus, Short lower limbs, Short philtrum, Short stature, Short sternum, Single transverse palmar crease, Spinal canal stenosis, Stapes ankylosis, Strabismus, Symphalangism affecting the phalanges of the hand, Synostosis of carpal bones, Tarsal synostosis, Thick upper lip vermilion, Thin upper lip vermilion, Toe syndactyly, Type B brachydactyly, Underdeveloped nasal alae, Waddling gait
MGE-RG1	TLK1	0.723809907	6.16E-08	Serine/threonine kinase	BrainSpLMD|9874	OMIM|608438
MGE-RG1	TCF7L1	1.790992146	6.68E-08	Transcription regulatory protein	BrainSpLMD|83439;BrainSpMouseDev|21176	OMIM|604652
MGE-RG1	HYDIN	2.003507689	6.73E-08	Unclassified	BrainSpLMD|54768;Eurexp|euxassay_013571|choroid invagination, choroid plexus, roof plate	SFARI||Autism, 4 - Minimal evidence;OMIM|610812;HPO|54768|Autosomal recessive inheritance, Bronchiectasis, Ciliary dyskinesia, Infantile onset, Nasal polyposis, Recurrent bronchitis, Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Respiratory insufficiency due to defective ciliary clearance, Rhinitis
MGE-RG1	ILDR2	2.124720624	1.06E-07	Immunoglobulin	BrainSpLMD|387597	
MGE-RG1	FGFR1	1.553930559	1.10E-07	Receptor tyrosine kinase	BrainSpLMD|2260;BrainSpMouseDev|13959	OMIM|136350;COSMIC||MPN, NHL, salivary adenoma, Pfeiffer syndrome, Kallman syndrome;HPO|2260|2-3 toe syndactyly, Abnormal form of the vertebral bodies, Abnormality of body height, Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Abnormality of the clavicle, Abnormality of the eyelashes, Abnormality of the nasolacrimal system, Abnormality of the nasopharynx, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Absent septum pellucidum, Agenesis of corpus callosum, Alopecia, Anosmia, Anterior hypopituitarism, Anterior pituitary hypoplasia, Anteverted nares, Anxiety, Aphasia, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Arachnoid cyst, Arnold-Chiari malformation, Atrial septal defect, Autosomal dominant inheritance, Bicoronal synostosis, Bimanual synkinesia, Bone cyst, Bowing of the long bones, Brachycephaly, Brachyturricephaly, Breast hypoplasia, Broad foot, Broad hallux, Broad hallux phalanx, Broad metacarpals, Broad metatarsal, Broad palm, Broad phalanx, Broad thumb, Bronchomalacia, Calcaneonavicular fusion, Capillary hemangiomas, Cartilaginous trachea, Cerebellar hypoplasia, Cerebral calcification, Cerebral cortical atrophy, Choanal atresia, Choanal stenosis, Chordee, Cleft eyelid, Cleft palate, Cleft upper lip, Cloverleaf skull, Corneal opacity, Coronal craniosynostosis, Cortical dysplasia, Craniofacial hyperostosis, Craniosynostosis, Cryptorchidism, Dandy-Walker malformation, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Depressivity, Diabetes insipidus, Downslanted palpebral fissures, Dysphasia, Echolalia, Ectrodactyly, Elbow ankylosis, Encephalocele, Epibulbar dermoid, Epicanthus, Erectile abnormalities, Eunuchoid habitus, Failure to thrive, Failure to thrive in infancy, Female hypogonadism, Finger syndactyly, Frontal bossing, Global developmental delay, Gonadotropin deficiency, Gynecomastia, Hallux varus, Hemiplegia/hemiparesis, Heterogeneous, High forehead, High palate, Humeroradial synostosis, Hydrocephalus, Hydronephrosis, Hypernatremia, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypoplasia of the frontal bone, Hypoplasia of the iris, Hypoplasia of the maxilla, Hypoplasia of the ovary, Hypoplasia of the uterus, Hypoplastic scapulae, Hypoplastic toenails, Hyposmia, Hypospadias, Hypotelorism, Hypothalamic gonadotropin-releasing hormone deficiency, Impotence, Incomplete penetrance, Increased female libido, Increased susceptibility to fractures, Inguinal hernia, Intellectual disability, Intrauterine growth retardation, Iris coloboma, Limb undergrowth, Linear hyperpigmentation, Lipodystrophy, Lipoma, Lipomas of the central neryous system, Lobar holoprosencephaly, Long penis, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Lumbar hemivertebrae, Macrocephaly, Malar flattening, Male hypogonadism, Mandibular prognathia, Meckel diverticulum, Microcephaly, Microdontia, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Multiple lipomas, Multiple unerupted teeth, Muscle stiffness, Mutism, Nasal obstruction, Neonatal hypotonia, Neoplasm of the skeletal system, Nevus flammeus, Non-midline cleft lip, Non-obstructive azoospermia, Nystagmus, Oligodontia, Omphalocele, Osteolysis, Osteopenia, Osteoporosis, Pelvic kidney, Peripheral pulmonary artery stenosis, Platyspondyly, Posteriorly rotated ears, Preauricular skin tag, Primary amenorrhea, Prominent supraorbital ridges, Proptosis, Protruding ear, Pseudoarthrosis, Ptosis, Pulmonary arterial hypertension, Reduced bone mineral density, Reduced number of teeth, Respiratory distress, Respiratory insufficiency, Retinopathy, Rhizomelia, Rigidity, Sclerocornea, Secondary amenorrhea, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Severe short stature, Shallow orbits, Short foot, Short hallux, Short metacarpal, Short metatarsal, Short middle phalanx of toe, Short neck, Short nose, Short palm, Short phalanx of finger, Short stature, Shortening of all middle phalanges of the fingers, Somatic mosaicism, Sparse body hair, Spasticity, Split hand, Sporadic, Strabismus, Subcortical cerebral atrophy, Subcutaneous lipoma, Subcutaneous nodule, Subvalvular aortic stenosis, Syndactyly, Synophrys, Telecanthus, Toe syndactyly, Tricuspid valve prolapse, Trigonocephaly, Unerupted tooth, Ventricular septal defect, Ventriculomegaly, Visceral angiomatosis, Visual impairment, Wide intermamillary distance, Wide nasal bridge, Wide nose, Xanthomatosis
MGE-RG1	CROT	0.468524156	1.46E-07	Enzyme: Acyltransferase	BrainSpLMD|54677	OMIM|606090
MGE-RG1	PTPN13	0.975166176	1.67E-07	Tyrosine phosphatase	BrainSpLMD|5783	OMIM|600267;COSMIC||lung, NSCLC, gastric, peritoneal carcinomatosis, hepatocellular
MGE-RG1	AJUBA	2.54890694	1.77E-07	Cell cycle control protein	BrainSpLMD|84962	OMIM|609066
MGE-RG1	ZBTB20	1.072268822	2.17E-07	Transcription factor	BrainSpLMD|26137;BrainSpMouseDev|35770	SFARI||Autism, 3 - Suggestive evidence;OMIM|606025;HPO|26137|Abnormality of the palate, Absent axillary hair, Absent facial hair, Anemia, Anonychia, Autosomal dominant inheritance, Basilar impression, Bilateral cryptorchidism, Bone cyst, Brachycephaly, Broad forehead, Calcification of the auricular cartilage, Cataract, Conductive hearing impairment, Deeply set eye, Developmental regression, Distal amyotrophy, Downslanted palpebral fissures, Downturned corners of mouth, Gait disturbance, Generalized hypotonia, Generalized osteoporosis, Genu valgum, Gynecomastia, Hearing impairment, Hip contracture, Hydrocephalus, Hypogonadism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Increased size of the mandible, Intellectual disability, Irregular vertebral endplates, Knee flexion contracture, Kyphosis, Macrocephaly, Macrotia, Malar flattening, Metatarsus adductus, Midface retrusion, Myopathy, Narrow chest, Narrow iliac wings, Narrow mouth, Neurodegeneration, Osteolysis, Pectus excavatum, Pes cavus, Plagiocephaly, Posterior polar cataract, Posterior scalloping of vertebral bodies, Ptosis, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Sparse scalp hair, Sporadic, Superiorly displaced ears, Synophrys, Thick lower lip vermilion, Truncal obesity
MGE-RG1	CKB	1.171324929	2.53E-07	Enzyme: Phosphotransferase	BrainSpLMD|1152;Eurexp|euxassay_011493|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lung, mandible, mantle layer, maxilla, midgut, neural retina, oesophagus, olfactory, rectum, sternum, stomach, trigeminal V, ventral grey horn, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ, wall	OMIM|123280
MGE-RG1	QKI	0.989005303	2.55E-07	RNA binding protein	BrainSpLMD|9444;Eurexp|euxassay_012259|diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, lens, lung, mandible, mantle layer, marginal layer, maxilla, meninges, midgut, neural retina, orbito-sphenoid, petrous part, skeletal muscle, stomach, submandibular gland primordium, turbinate, vault of skull, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|609590;COSMIC||angiocentric glioma, colorectal cancer
MGE-RG1	SOX5	0.513285013	2.83E-07	Transcription factor	BrainSpLMD|6660;BrainSpMouseDev|20440	SFARI||Autism, No category;OMIM|604975;HPO|6660|2-3 toe syndactyly, Abnormality of brain morphology, Anxiety, Autosomal dominant inheritance, Bulbous nose, Clinodactyly, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Exaggerated median tongue furrow, Exotropia, Facial asymmetry, Frontal bossing, Generalized hypotonia, Global developmental delay, Hyperplasia of the maxilla, Intellectual disability, Low-set ears, Lumbar hyperlordosis, Motor delay, Muscular hypotonia, Myopia, Narrow palate, Open mouth, Optic atrophy, Pectus carinatum, Phenotypic variability, Posteriorly rotated ears, Scoliosis, Strabismus, Thoracic kyphoscoliosis, Vertebral fusion, Wide nasal bridge
MGE-RG1	NNAT	1.081166316	3.03E-07	Regulatory/other subunit	BrainSpLMD|4826;Eurexp|euxassay_007364|brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, mesenchyme, mesothelium, midgut, neural retina, oesophagus, olfactory, paraxial mesenchyme, pericardial cavity, peritoneal cavity, right lung, skeletal muscle, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|17878	OMIM|603106
MGE-RG1	LNPEP	1.505676553	3.57E-07	Aminopeptidase	BrainSpLMD|4012	OMIM|151300
MGE-RG1	ABAT	0.871320599	3.68E-07	Enzyme: Aminotransferase	BrainSpLMD|18;Eurexp|euxassay_001907|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, thymus primordium, trigeminal V, ventricular layer;BrainSpMouseDev|92603	SFARI||Autism, 4 - Minimal evidence;OMIM|137150;HPO|18|Agenesis of corpus callosum, Autosomal recessive inheritance, Cerebellar hypoplasia, Death in childhood, Downslanted palpebral fissures, Global developmental delay, High-pitched cry, Hyperreflexia, Lethargy, Leukodystrophy, Posterior fossa cyst, Retrognathia, Seizures, Severe muscular hypotonia, Tall stature
MGE-RG1	CTB.63M22.1	0.725137806	3.80E-07			
MGE-RG1	ATP10D	1.350908988	3.84E-07	ATPase	BrainSpLMD|57205	
MGE-RG1	RAI14	1.173397451	3.95E-07	Unclassified	BrainSpLMD|26064;Eurexp|euxassay_015953|axial muscle, clavicle, floor plate, floorplate, incisor, lung, mandible, maxilla, metanephros, orbito-sphenoid, palatal shelf, penis, physiological umbilical hernia, rib, roof plate, turbinate, ventricular layer	OMIM|606586
MGE-RG1	AC253572.1	1.191122113	4.05E-07			
MGE-RG1	CAPN2	1.031473105	4.25E-07	Cysteine protease	BrainSpLMD|824;Eurexp|euxassay_015893|floor plate, floorplate, mantle layer	OMIM|114230
MGE-RG1	MCC	1.481437636	4.44E-07	Unclassified;Cell cycle control protein	BrainSpLMD|4163;Eurexp|euxassay_016045|mantle layer, pineal primordium, stomach, submandibular gland primordium, ventricular layer	SFARI||Autism, No category;OMIM|159350
MGE-RG1	JUND	0.49922061	5.05E-07	Transcription factor	BrainSpLMD|3727;BrainSpMouseDev|16251	OMIM|165162
MGE-RG1	INTU	1.125116291	5.66E-07	Unclassified	BrainSpLMD|27152	OMIM|610621
MGE-RG1	IGSF11	2.108762284	5.77E-07	Adhesion molecule	BrainSpLMD|152404;Eurexp|euxassay_006186|embryo	OMIM|608351
MGE-RG1	GPM6B	1.055962172	6.06E-07	Integral membrane protein	BrainSpLMD|2824;Eurexp|euxassay_011476|intermediate grey horn, mantle layer, marginal layer, ventral grey horn, ventricular layer	OMIM|300051
MGE-RG1	RMST	2.244733521	6.84E-07			OMIM|607045
MGE-RG1	PCDH17	0.449208486	7.10E-07	Adhesion molecule	BrainSpLMD|27253	OMIM|611760
MGE-RG1	FAM135A	1.166987583	8.07E-07	Unclassified	BrainSpLMD|57579	
MGE-RG1	MLC1	1.516250249	8.22E-07	Membrane transport protein	BrainSpLMD|23209;Eurexp|euxassay_010374|ventricular layer	OMIM|605908;HPO|23209|Ataxia, Autosomal recessive inheritance, Diffuse spongiform leukoencephalopathy, Diffuse swelling of cerebral white matter, Infantile onset, Intellectual disability, mild, Macrocephaly, Megalencephaly, Motor delay, Seizures, Spasticity
MGE-RG1	RFC1	0.925087887	8.33E-07	DNA binding protein	BrainSpLMD|5981	OMIM|102579
MGE-RG1	TMBIM6	0.914938174	8.97E-07	Integral membrane protein	BrainSpLMD|7009	OMIM|600748
MGE-RG1	S1PR1	1.731228136	9.40E-07	G protein coupled receptor	BrainSpLMD|1901;BrainSpMouseDev|13387	OMIM|601974
MGE-RG1	NEBL	1.775081228	9.73E-07	Cytoskeletal associated protein	BrainSpLMD|10529	OMIM|605491;HPO|10529|Dilated cardiomyopathy
MGE-RG1	LRP2BP	1.902907484	1.00E-06	Adapter molecule	BrainSpLMD|55805	SFARI||Autism, No category
MGE-RG1	NTN4	1.601650567	1.16E-06	Extracellular matrix protein	BrainSpLMD|59277;Eurexp|euxassay_007631|valve, ventricular layer;BrainSpMouseDev|37036	OMIM|610401
MGE-RG1	RPS14	0.393693071	1.16E-06	Ribosomal subunit	BrainSpLMD|6208	OMIM|130620;HPO|6208|Abnormality of cells of the megakaryocyte lineage, Autosomal dominant contiguous gene syndrome, Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Somatic mutation, Sporadic
MGE-RG1	RPLP0	0.659533752	1.16E-06	Ribosomal subunit	BrainSpLMD|6175	OMIM|180510
MGE-RG1	DIAPH2	1.979887329	1.37E-06	Ligand	BrainSpLMD|1730	OMIM|300108;HPO|1730|Premature ovarian insufficiency, Secondary amenorrhea, X-linked dominant inheritance
MGE-RG1	KCNH7	0.920837293	1.38E-06	Voltage gated channel	BrainSpLMD|90134;BrainSpMouseDev|82041	OMIM|608169
MGE-RG1	GULP1	1.491300742	1.39E-06	Adapter molecule	BrainSpLMD|51454	OMIM|608165
MGE-RG1	MEIS1	0.812247635	1.46E-06	Transcription factor	BrainSpLMD|4211;Eurexp|euxassay_010373|cornea, epithelium, hindgut, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, respiratory, sublingual gland primordium, submandibular gland primordium, trachea, ventricular layer, vibrissa;BrainSpMouseDev|17037	OMIM|601739
MGE-RG1	FZD5	1.928613424	1.46E-06	G protein coupled receptor	BrainSpLMD|7855;BrainSpMouseDev|14143	OMIM|601723
MGE-RG1	DUSP10	1.564857232	1.47E-06	Enzyme: Phosphatase;Enzyme: Phosphohydrolase	BrainSpLMD|11221	OMIM|608867
MGE-RG1	EIF2AK2	0.746703124	1.47E-06	Serine/threonine kinase	BrainSpLMD|5610	OMIM|176871
MGE-RG1	FOS	0.76392559	1.47E-06	Transcription factor	BrainSpLMD|2353;Eurexp|euxassay_012634|mandible, maxilla;BrainSpMouseDev|14058	OMIM|164810;HPO|2353|Abnormality of skin pigmentation, Acanthosis nigricans, Accelerated skeletal maturation, Bone cyst, Broad foot, Diabetes mellitus, Generalized hirsutism, Growth hormone excess, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hyperinsulinemia, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Insulin resistance, Intellectual disability, Large hands, Lipoatrophy, Mandibular prognathia, Precocious puberty, Prominent supraorbital ridges, Skeletal muscle hypertrophy
MGE-RG1	AMMECR1	2.035559362	1.61E-06	Unclassified	BrainSpLMD|9949	OMIM|300195;HPO|9949|Abnormality of the hair, Anteverted nares, Depressed nasal bridge, Downslanted palpebral fissures, Elliptocytosis, Glomerulopathy, Hearing impairment, Intellectual disability, severe, Malar flattening, Microscopic hematuria, Muscular hypotonia, Proteinuria, Renal insufficiency, Tapered finger, Thick vermilion border, Thin vermilion border
MGE-RG1	PLCH1	1.927378061	1.61E-06	Unclassified	BrainSpMouseDev|92752	OMIM|612835
MGE-RG1	AXL	0.876426144	1.82E-06	Receptor tyrosine kinase	BrainSpLMD|558;Eurexp|euxassay_001756|cardiovascular system, gland, head mesenchyme, integumental system, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|26110	OMIM|109135;HPO|558|Autosomal dominant inheritance, Autosomal recessive inheritance, Cryptorchidism, Decreased testicular size, Gynecomastia, Hypogonadotrophic hypogonadism, Micropenis, Primary amenorrhea, Sparse axillary hair, Sparse pubic hair
MGE-RG1	BAG2	2.798566453	1.90E-06	Adapter molecule	BrainSpLMD|9532	OMIM|603882
MGE-RG1	MIER1	0.529846154	2.01E-06	Transcription regulatory protein	BrainSpLMD|57708	OMIM|616848
MGE-RG1	FSTL1	1.00126083	2.07E-06	Protease inhibitor	Eurexp|euxassay_003685|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail;BrainSpMouseDev|14090	OMIM|605547
MGE-RG1	EVI5	1.550494435	2.22E-06	Unclassified	BrainSpLMD|7813;Eurexp|euxassay_001717|cervical, cervico-thoracic, lobe;BrainSpMouseDev|13797	OMIM|602942
MGE-RG1	AIF1L	1.745067648	2.23E-06	Calcium binding protein	BrainSpLMD|83543;Eurexp|euxassay_002250|basisphenoid bone, orbito-sphenoid, turbinate, ventricular layer	
MGE-RG1	BCAN	1.355323468	2.30E-06	Adhesion molecule	BrainSpLMD|63827;Eurexp|euxassay_018187|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|11818	OMIM|600347
MGE-RG1	COL9A1	1.732260515	2.59E-06	Extracellular matrix protein	BrainSpLMD|1297;Eurexp|euxassay_011520|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, hyoid bone, mandible, maxilla, metacarpus, metatarsus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, radius, rib, scapula, sternum, submandibular gland primordium, temporal bone, thyroid, tibia, trachea, turbinate, ulna, vault of skull;BrainSpMouseDev|12622	OMIM|120210;HPO|1297|Abnormality of epiphysis morphology, Abnormality of the knee, Amblyopia, Arthralgia, Arthralgia of the hip, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Childhood onset, Cleft palate, Degenerative vitreoretinopathy, Epiphyseal dysplasia, Flat capital femoral epiphysis, Flat distal femoral epiphysis, Flat face, Gait disturbance, Genu valgum, Hip dysplasia, Irregular distal femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Limitation of joint mobility, Malar flattening, Micrognathia, Micromelia, Multiple epiphyseal dysplasia, Myopia, Osteoarthritis, Platyspondyly, Retinal detachment, Schmorl's node, Sensorineural hearing impairment, Severe Myopia, Short stature, Small epiphyses, Vitreoretinal degeneration
MGE-RG1	BRINP3	2.591706409	2.77E-06	Unclassified	BrainSpLMD|339479;Eurexp|euxassay_002098|mantle layer, olfactory, spinal cord, submandibular gland primordium	
MGE-RG1	PDLIM3	1.673762092	2.83E-06	Unclassified	BrainSpLMD|27295	OMIM|605889
MGE-RG1	GPC6	1.558909188	2.85E-06	Growth factor	BrainSpLMD|10082	SFARI||Autism, 4 - Minimal evidence;OMIM|604404;HPO|10082|Anterolateral radial head dislocation, Atrial septal defect, Autosomal recessive inheritance, Axillary pterygia, Blepharophimosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Fibular hypoplasia, Flat face, Frontal bossing, Hemangioma, Hypoplastic distal humeri, Increased fibular diameter, Limited elbow extension, Limited elbow flexion, Limited elbow flexion/extension, Limited hip movement, Limited knee extension, Limited knee flexion, Limited knee flexion/extension, Long philtrum, Malar flattening, Micrognathia, Popliteal pterygium, Pulmonary artery stenosis, Rhizomelia, Short humerus, Short neck, Short nose, Short tibia, Umbilical hernia, Ventricular septal defect, Wide nasal bridge
MGE-RG1	FAM161A	1.425472663	3.13E-06	Unclassified	Eurexp|euxassay_013156|choroid invagination, choroid plexus, roof plate	OMIM|613596;HPO|84140|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
MGE-RG1	FGGY	1.900343444	3.19E-06	Unclassified	BrainSpLMD|55277;Eurexp|euxassay_003524|calyces, left, olfactory, right	OMIM|611370
MGE-RG1	FGFBP3	1.553810465	3.37E-06	Unclassified	BrainSpLMD|143282;Eurexp|euxassay_000173|basal columns, basal plate, corpus striatum, floor plate, floorplate, mantle layer, metencephalon, spinal cord, ventral grey horn, ventricular layer	SFARI||Autism, 5 - Hypothesized but untested
MGE-RG1	RPLP0P6	0.588293665	3.38E-06			
MGE-RG1	ANXA5	0.647299286	3.57E-06	Calcium binding protein	BrainSpLMD|308;Eurexp|euxassay_002158|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, meninges, renal/urinary system, reproductive system, respiratory system, tail	OMIM|131230
MGE-RG1	TRIP6	1.516402835	3.71E-06	Transcription regulatory protein	BrainSpLMD|7205	OMIM|602933
MGE-RG1	PTPDC1	1.437176816	3.89E-06	Tyrosine phosphatase	BrainSpLMD|138639	
MGE-RG1	RPL7	0.313398048	4.07E-06	Ribosomal subunit		OMIM|604166
MGE-RG1	SH3BGRL	0.822250542	4.84E-06	Unclassified	BrainSpLMD|6451	OMIM|300190
MGE-RG1	DYNC2H1	1.012492799	4.88E-06	Motor protein	Eurexp|euxassay_014017|olfactory, ventricular layer	OMIM|603297;HPO|79659|Abdominal distention, Abnormal pelvis bone ossification, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Brachydactyly, Cleft upper lip, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypoplasia of penis, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Narrow chest, Postaxial hand polydactyly, Renal hypoplasia, Respiratory insufficiency, Short foot, Short palm, Short ribs, Short thorax, Skeletal dysplasia, Urethrovaginal fistula, Uterus didelphys, Wide nose
MGE-RG1	RPS6	0.505595608	4.95E-06	Ribosomal subunit	BrainSpLMD|6194	OMIM|180460
MGE-RG1	RAB36	1.081522046	5.13E-06	GTPase	BrainSpLMD|9609	OMIM|605662
MGE-RG1	BBX	0.689190763	5.34E-06	Transcription factor	BrainSpLMD|56987;Eurexp|euxassay_001866|cortex, mantle layer, pituitary, testis, ventricular layer;BrainSpMouseDev|46349	
MGE-RG1	STK39	1.067689923	5.37E-06	Serine/threonine kinase	BrainSpLMD|27347	SFARI||Autism, 4 - Minimal evidence;OMIM|607648
MGE-RG1	ACP6	0.966592767	6.16E-06	Enzyme: Acid phosphatase	BrainSpLMD|51205	OMIM|611471
MGE-RG1	ELMSAN1	0.878014113	6.66E-06	DNA binding protein	BrainSpLMD|91748	
MGE-RG1	PDE6B	1.026516947	6.73E-06	Enzyme: Esterase	BrainSpLMD|5158	OMIM|180072;HPO|5158|Abnormal electroretinogram, Abnormal light- and dark-adapted electroretinogram, Abnormality of macular pigmentation, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Congenital stationary night blindness, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc hypoplasia, Photophobia, Progressive night blindness, Reduced visual acuity, Rod-cone dystrophy, Sensorineural hearing impairment, Severe Myopia, Wide nasal bridge
MGE-RG1	SLC25A5	1.040171572	6.74E-06	Integral membrane protein		OMIM|300150
MGE-RG1	LYPD1	1.763146619	6.82E-06	Unclassified	BrainSpLMD|116372;Eurexp|euxassay_015059|alar columns, alar plate, arm, basal columns, basal plate, brain, carpus, caudate nucleus, caudate-putamen, cerebellum, cerebral cortex, cochlear component, corpus striatum, dermal component, diencephalon, dorsal root ganglion, epithelium, external, facial VII, footplate, forebrain, forelimb, ganglion, glossopharyngeal IX, handplate, head, hindbrain, hindlimb, hypoglossal XII, hypothalamus, incisor, inferior, interthalamic adhesion, intraventricular portion, lamina terminalis, lateral wall, lentiform nucleus, limb, mandibular division, mantle layer, marginal layer, maxillary division, meatus, medulla oblongata, mesenchyme, metencephalon, midbrain, naris, nasal capsule, nasal cavity, nasal septum, neurohypophysis, olfactory I, olfactory cortex, olfactory lobe, ophthalmic division, optic II, otic capsule, pigmented retinal epithelium, pineal primordium, pituitary, pons, posterior, primary choana, rest of alar plate, rest of cerebellum, rest of skin, retina, spinal cord, sulcus limitans, superior, tail, tarsus, tegmentum, telencephalon, thalamus, thymus primordium, thyroid, trigeminal V, trochlear IV, turbinate bones, vagus X, vestibular component, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|48426	OMIM|610450
MGE-RG1	HMGCS1	0.686976809	7.20E-06	Enzyme: Synthase	BrainSpLMD|3157	OMIM|142940
MGE-RG1	NBPF14	1.101998665	7.69E-06	Unclassified		OMIM|614003
MGE-RG1	DLGAP1.AS5	1.261202533	8.33E-06			
MGE-RG1	UTRN	1.021668206	8.82E-06	Anchor protein	BrainSpLMD|7402;Eurexp|euxassay_013991|bladder, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, primitive seminiferous tubules, rectum, stomach, trigeminal V, urethra	SFARI||Autism, No category;OMIM|128240
MGE-RG1	PDPN	1.049730936	8.84E-06	Water channel	BrainSpLMD|10630;Eurexp|euxassay_002001|axial skeleton, submandibular gland primordium, ventricular layer;BrainSpMouseDev|14502	OMIM|608863
MGE-RG1	STK33	0.947779443	9.48E-06	Serine/threonine kinase	BrainSpLMD|65975;Eurexp|euxassay_016521|olfactory, ventricular layer, vomeronasal organ	OMIM|607670
MGE-RG1	CLDND1	1.007544417	9.97E-06	Unclassified	BrainSpLMD|56650;Eurexp|euxassay_006238|embryo	
MGE-RG1	ADAMTSL1	2.316874518	1.01E-05	Secreted polypeptide	BrainSpLMD|92949	OMIM|609198
MGE-RG1	CCND2	0.4136593	1.02E-05	Cell cycle control protein	BrainSpLMD|894	OMIM|123833;COSMIC||NHL, CLL;HPO|894|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Congenital onset, Depressed nasal bridge, Global developmental delay, High forehead, Hydrocephalus, Hypertelorism, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Prominent forehead, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
MGE-RG1	YAP1	1.865820316	1.04E-05	Transcription regulatory protein	BrainSpLMD|10413	OMIM|606608;HPO|10413|Autosomal dominant inheritance, Bilateral cleft lip and palate, Chorioretinal coloboma, Hematuria, Intellectual disability, Iris coloboma, Microphthalmia, Sensorineural hearing impairment
MGE-RG1	GATM	1.041622533	1.13E-05	Enzyme: Amidinotransferase	BrainSpLMD|2628;Eurexp|euxassay_005674|diaphragm, footplate, frenulum, handplate, lower leg, paraxial mesenchyme, shoulder, skeletal muscle, upper arm, upper leg, vertebral axis muscle system	SFARI||Autism, No category;OMIM|602360;HPO|2628|Abnormality of creatine metabolism, Autism, Autosomal recessive inheritance, Delayed speech and language development, Failure to thrive, Global developmental delay, Infantile onset, Intellectual disability, Organic aciduria
MGE-RG1	RPS23	0.415989512	1.19E-05	Ribosomal subunit	BrainSpLMD|6228	OMIM|603683;HPO|6228|Abnormality of the pinna, Autistic behavior, Autosomal dominant inheritance, Cleft palate, Conductive hearing impairment, Depressed nasal bridge, Epicanthus, Flat occiput, Generalized hypotonia, High palate, Highly arched eyebrow, Increased number of teeth, Intellectual disability, mild, Long eyelashes, Low-set ears, Microcephaly, Motor delay, Short stature, Single transverse palmar crease, Thick eyebrow
MGE-RG1	CEBPZ	1.234502549	1.22E-05	Transcription regulatory protein	BrainSpLMD|10153;Eurexp|euxassay_014370|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, metatarsus, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, sternum, tibia, turbinate bones, ulna, vault of skull	OMIM|612828
MGE-RG1	KIAA1407	0.543891785	1.24E-05			
MGE-RG1	RPLP1	0.440492089	1.25E-05	Ribosomal subunit		OMIM|180520
MGE-RG1	IFT140	1.644039022	1.36E-05	Unclassified	BrainSpLMD|9742	OMIM|614620;HPO|9742|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of pelvic girdle bone morphology, Abnormality of retinal pigmentation, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the optic disc, Abnormality of the retinal vasculature, Abnormality of the ribs, Abnormality of the sternum, Abnormality of the testis, Anemia, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Ataxia, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Brachydactyly, Cataract, Cholestasis, Conductive hearing impairment, Cone-shaped epiphysis, Encephalocele, Glaucoma, Hemiplegia/hemiparesis, Hepatic fibrosis, Hepatomegaly, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Hypoplasia of the capital femoral epiphysis, Infantile onset, Intellectual disability, Keratoconus, Micromelia, Muscular hypotonia, Narrow chest, Nephronophthisis, Nephropathy, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Renal cyst, Renal dysplasia, Respiratory insufficiency, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe visual impairment, Short femoral neck, Short foot, Short phalanx of finger, Short stature, Short thorax, Skeletal dysplasia, Stage 5 chronic kidney disease, Visual loss, Wide nasal bridge
MGE-RG1	TOB1	0.633539975	1.41E-05	Adapter molecule	BrainSpLMD|10140	OMIM|605523
MGE-RG1	NDRG2	1.651938824	1.48E-05	Enzyme: Hydrolase	BrainSpLMD|57447;Eurexp|euxassay_018237|anterior, choroid plexus, cricoid, dorsal root ganglion, facial VII, femur, glossopharyngeal IX, humerus, mantle layer, naris, nasal septum, otic capsule, phalanx, rectum, rib, sternum, thyroid, trigeminal V, turbinate bones, vagus X, ventricle, ventricular layer, vestibulocochlear VIII	OMIM|605272
MGE-RG1	REST	1.500410144	1.55E-05	Transcription regulatory protein	BrainSpLMD|5978;BrainSpMouseDev|19475	OMIM|600571;HPO|5978|Abdominal pain, Gingival fibromatosis, Gingival overgrowth, Nephroblastoma
MGE-RG1	MOB3B	1.023031903	1.58E-05	Unclassified	BrainSpLMD|79817;Eurexp|euxassay_011555|incisor, molar	OMIM|617652
MGE-RG1	MED14	1.260930572	1.59E-05	Transcription regulatory protein	BrainSpLMD|9282;Eurexp|euxassay_019541|clavicle, incisor, lung, molar, oesophagus, olfactory, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, valve, vertebral axis muscle system, vibrissa	OMIM|300182
MGE-RG1	MRC2	1.124217057	1.69E-05	Cell surface receptor	BrainSpLMD|9902;Eurexp|euxassay_009360|mandible, maxilla, meninges, mesenchyme, temporal bone	OMIM|612264
MGE-RG1	RP11.166D19.1	0.748799737	1.71E-05			
MGE-RG1	NBPF10	1.1802241	1.85E-05			OMIM|614000
MGE-RG1	PTPRZ1	0.527161394	1.92E-05	Receptor tyrosine phosphatase	BrainSpLMD|5803;BrainSpMouseDev|19046	OMIM|176891
MGE-RG1	ZNF770	1.547570225	1.98E-05	DNA binding protein	BrainSpLMD|54989	
MGE-RG1	BCHE	1.877108021	2.19E-05	Enzyme: Esterase	BrainSpLMD|590;BrainSpMouseDev|11824	OMIM|177400
MGE-RG1	SOAT1	0.717345069	2.20E-05	Enzyme: Acyltransferase	BrainSpLMD|6646;Eurexp|euxassay_004596|adrenal gland, calyces, loop, midgut, stomach, turbinate bones	OMIM|102642
MGE-RG1	DENND1A	1.3441892	2.29E-05	Unclassified	BrainSpLMD|57706	OMIM|613633
MGE-RG1	LSAMP	0.659015386	2.37E-05	Adhesion molecule	BrainSpLMD|4045	OMIM|603241
MGE-RG1	ST7.OT4	1.328393122	2.55E-05			
MGE-RG1	LDLRAD3	1.113491436	2.96E-05	Unclassified	BrainSpLMD|143458;Eurexp|euxassay_011393|dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, stomach, trigeminal V, vagus X, vestibulocochlear VIII	
MGE-RG1	TEKT2	0.594227868	3.24E-05	Structural protein	BrainSpLMD|27285	OMIM|608953
MGE-RG1	NOTCH2	1.151028498	3.44E-05	Cell surface receptor	BrainSpLMD|4853;Eurexp|euxassay_015406|alimentary system, cardiovascular system, cavities and their linings, choroid plexus, gland, integumental system, limb, marginal layer, meninges, mesenchyme, olfactory, renal/urinary system, reproductive system, respiratory system, skeleton, tail, ventricular layer, vertebral axis muscle system, vomeronasal organ;BrainSpMouseDev|17896	OMIM|600275;COSMIC||marginal zone lymphoma, DLBCL, bladder, Hajdu-Cheney syndrome, serpentine fibula-polycystic kidney syndrome;HPO|4853|Abnormality of the cardiac septa, Abnormality of the fingernails, Absent frontal sinuses, Anteverted nares, Arnold-Chiari malformation, Arthralgia, Atrial septal defect, Autosomal dominant inheritance, Basilar impression, Biconcave vertebral bodies, Bone pain, Brachydactyly, Broad forehead, Cervical instability, Cholestasis, Cholestatic liver disease, Coarse facial features, Conductive hearing impairment, Crowded carpal bones, Cryptorchidism, Decreased skull ossification, Dental malocclusion, Dislocated radial head, Dolichocephaly, Downslanted palpebral fissures, Downturned corners of mouth, Elongated sella turcica, Epicanthus, Failure to thrive, Foot acroosteolysis, Full cheeks, Generalized hirsutism, Genu valgum, Hearing impairment, Hematuria, High palate, Hirsutism, Hydrocephalus, Hypertelorism, Hypertension, Hypoplastic 5th lumbar vertebrae, Hypospadias, Inguinal hernia, Joint hyperflexibility, Joint laxity, Kyphoscoliosis, Large earlobe, Long eyelashes, Long nose, Long philtrum, Low-set ears, Macrocephaly, Micrognathia, Narrow mouth, Open bite, Osteolysis, Osteolytic defects of the phalanges of the hand, Osteopenia, Osteoporosis, Partial absence of toe, Patent ductus arteriosus, Pathologic fracture, Periodontitis, Peripheral pulmonary artery stenosis, Phenotypic variability, Platybasia, Pointed chin, Posterior embryotoxon, Premature loss of teeth, Prominent occiput, Proteinuria, Pulmonic stenosis, Recurrent fractures, Renal cyst, Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Scoliosis, Short distal phalanx of finger, Short nail, Short neck, Short stature, Short toe, Skeletal dysplasia, Synophrys, Tall lumbar vertebral bodies, Telecanthus, Tetralogy of Fallot, Thick eyebrow, Thin vermilion border, Triangular face, Umbilical hernia, Vertebral compression fractures, Wide nose, Wormian bones
MGE-RG1	TCTN3	1.801447718	3.45E-05	Integral membrane protein	BrainSpLMD|26123;Eurexp|euxassay_011590|choroid invagination, choroid plexus, olfactory, roof plate	OMIM|613847;HPO|26123|Abnormality of eye movement, Abnormality of oral frenula, Abnormality of the gingiva, Abnormality of the tongue, Absent testis, Accessory oral frenulum, Aplasia/Hypoplasia of the tibia, Autosomal recessive inheritance, Bifid uvula, Brachydactyly, Camptodactyly, Camptodactyly of finger, Cerebral atrophy, Cerebral cortical hemiatrophy, Choanal atresia, Cleft palate, Clinodactyly, Conductive hearing impairment, Decreased testicular size, Depressed nasal ridge, Epicanthus, Failure to thrive, Feeding difficulties, Finger syndactyly, Foot polydactyly, Genu varum, Global developmental delay, Hamartoma, Hamartoma of tongue, Hand polydactyly, High palate, High, narrow palate, Horseshoe kidney, Hypertelorism, Intellectual disability, Intrauterine growth retardation, Joint dislocation, Joint laxity, Kyphoscoliosis, Laryngomalacia, Lobulated tongue, Low-set ears, Median cleft lip, Microcephaly, Micrognathia, Micromelia, Microtia, third degree, Molar tooth sign on MRI, Monorchism, Oligohydramnios, Oral synechia, Pectus excavatum, Phenotypic variability, Polydactyly, Porencephalic cyst, Postaxial hand polydactyly, Posteriorly rotated ears, Preaxial hand polydactyly, Proptosis, Recurrent respiratory infections, Retrognathia, Severe short stature, Short finger, Short nose, Short stature, Short tibia, Specific learning disability, Split hand, Subcortical cerebral atrophy, Submucous cleft hard palate, Toe syndactyly, Tongue nodules, Ventricular septal defect, Wide nose
MGE-RG1	IQCG	1.45456589	4.23E-05	Unclassified	BrainSpLMD|84223;Eurexp|euxassay_003706|choroid plexus, lateral recess, olfactory, roof plate, ventricular layer	OMIM|612477
MGE-RG1	OXR1	1.07175019	4.39E-05	Unclassified	BrainSpLMD|55074	OMIM|605609
MGE-RG1	MSI2	0.84768017	4.42E-05	RNA binding protein	BrainSpLMD|124540	OMIM|607897;COSMIC||CML
MGE-RG1	POT1.AS1	1.911797454	4.66E-05			
MGE-RG1	GRAMD1C	1.213029927	4.71E-05	Unclassified;Integral membrane protein	BrainSpLMD|54762;Eurexp|euxassay_005110|adenohypophysis, liver, olfactory, oral region, ventricular layer	
MGE-RG1	PCGF5	2.106295668	4.79E-05	Ubiquitin proteasome system protein	BrainSpLMD|84333	OMIM|617407
MGE-RG1	NFE2L2	1.30597674	5.41E-05	Transcription factor	BrainSpLMD|4780;Eurexp|euxassay_018087|larynx, midgut, rectum, stomach, submandibular gland primordium, thyroid, trachea;BrainSpMouseDev|17791	OMIM|600492;COSMIC||NSCLC, HNSCC
MGE-RG1	MYO10	1.056369157	5.44E-05	Motor protein	BrainSpLMD|4651;Eurexp|euxassay_009373|mantle layer, marginal layer, thymus primordium, trigeminal V, ventricular layer	OMIM|601481
MGE-RG1	CCDC173	1.537016632	6.14E-05	Unclassified		
MGE-RG1	PPIP5K2	0.69281169	6.41E-05	Unclassified	BrainSpLMD|23262;Eurexp|euxassay_012441|dorsal root ganglion, ductus deferens, excretory component, facial VII, glossopharyngeal IX, hindgut, incisor, lens, mantle layer, midgut, molar, neural retina, olfactory, pancreas, stomach, sublingual gland primordium, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|611648
MGE-RG1	SPEF2	0.800673411	6.55E-05	Unclassified	BrainSpLMD|79925	OMIM|610172
MGE-RG1	NEK6	1.992235342	6.63E-05	Serine/threonine kinase	BrainSpLMD|10783	OMIM|604884
MGE-RG1	PLCE1	0.34082219	6.73E-05	Guanine nucleotide exchange factor	BrainSpLMD|51196;Eurexp|euxassay_014545|floor plate, floorplate	OMIM|608414;HPO|51196|Autosomal recessive inheritance, Childhood onset, Diffuse mesangial sclerosis, Edema, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome, Progressive, Proteinuria, Stage 5 chronic kidney disease
MGE-RG1	TRPS1	1.525010349	6.75E-05	Transcription factor	BrainSpLMD|7227;Eurexp|euxassay_011487|axial skeleton, basioccipital bone, basisphenoid bone, bladder, clavicle, cornea, cricoid, diaphragm, dorsal grey horn, exoccipital bone, femur, humerus, knee, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, rib, skeletal muscle, sternum, stomach, submandibular gland primordium, thyroid, tongue, trachea, ureter, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|58142	OMIM|604386;HPO|7227|Abnormality of the nervous system, Abnormally low-pitched voice, Accelerated bone age after puberty, Aplasia/Hypoplasia of the mandible, Arthralgia, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Bone pain, Bulbous nose, Camptodactyly of finger, Carious teeth, Chin with horizontal crease, Clinodactyly of the 5th finger, Concave nail, Cone-shaped epiphyses of the middle phalanges of the hand, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphyses of the proximal phalanges of the hand, Cone-shaped epiphysis, Coxa magna, Deep philtrum, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Fine hair, Flat capital femoral epiphysis, Fragile nails, Frontal bossing, Generalized hypotonia, High palate, Hyperlordosis, Increased number of teeth, Infantile muscular hypotonia, Intellectual disability, Ivory epiphyses of the distal phalanges of the hand, Joint dislocation, Joint hyperflexibility, Leukonychia, Long philtrum, Long upper lip, Low-set, posteriorly rotated ears, Macrotia, Microdontia, Micrognathia, Multiple long-bone exostoses, Muscular hypotonia, Narrow palate, Osteoarthritis, Osteopenia, Pear-shaped nose, Pectus carinatum, Pes planus, Protruding ear, Recurrent respiratory infections, Redundant skin, Scapular winging, Scoliosis, Short distal phalanx of finger, Short finger, Short foot, Short metacarpal, Short metatarsal, Short palm, Short phalanx of finger, Short stature, Shortening of all phalanges of fingers, Slow-growing hair, Smooth philtrum, Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Sparse lateral eyebrow, Sparse scalp hair, Swelling of proximal interphalangeal joints, Thick eyebrow, Thin eyebrow, Thin nail, Thin upper lip vermilion, Triangular face, Underdeveloped nasal alae
MGE-RG1	RP11.436K8.1	0.717221435	6.76E-05			
MGE-RG1	LMO1	1.016628951	7.19E-05	Transcription factor	BrainSpLMD|4004;BrainSpMouseDev|73752	OMIM|186921;COSMIC||T-ALL, neuroblastoma, neuroblastoma;HPO|4004|Elevated urinary catecholamines, Neoplasm of the nervous system
MGE-RG1	MEGF10	0.809144509	7.79E-05	Structural protein	BrainSpLMD|84466	SFARI||Autism, 4 - Minimal evidence;OMIM|612453;HPO|84466|Areflexia, Autosomal recessive inheritance, Camptodactyly of finger, Cleft palate, Congenital onset, Decreased fetal movement, Diaphragmatic paralysis, Difficulty running, Dysphagia, Facial palsy, Failure to thrive, High palate, Hyporeflexia, Motor delay, Nasal speech, Neonatal hypotonia, Pectus excavatum, Poor head control, Respiratory distress, Respiratory failure, Restrictive ventilatory defect, Scoliosis, Talipes equinovarus, Variable expressivity
MGE-RG1	LDHB	0.439627892	7.80E-05	Enzyme: Dehydrogenase	BrainSpLMD|3945	OMIM|150100
MGE-RG1	SALL3	1.005821045	8.01E-05	DNA binding protein	BrainSpLMD|27164;Eurexp|euxassay_010911|cochlea, glomeruli, inner ear, lip, mantle layer, medulla oblongata, palatal shelf, penis, utricle, valve, ventricular layer;BrainSpMouseDev|20451	OMIM|605079
MGE-RG1	C5orf15	0.785032471	8.46E-05	Unclassified	BrainSpLMD|56951	
MGE-RG1	DACH1	1.31783618	9.14E-05	Transcription regulatory protein	BrainSpLMD|1602;Eurexp|euxassay_012739|associated mesenchyme, bladder, calyces, cortex, dermis, dorsal root ganglion, facial VII, left lung, mantle layer, meninges, midgut, olfactory, oral region, pelvis, penis, retina, right lung, stomach, thymus primordium, trigeminal V, ureter, urethra, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|12914	OMIM|603803
MGE-RG1	EMP2	1.362843576	9.47E-05	Cell cycle control protein	BrainSpLMD|2013;Eurexp|euxassay_013721|bladder, epithelium, incisor, larynx, left lung, mantle layer, marginal layer, midgut, molar, pharyngo-tympanic tube, rectum, right lung, skeletal muscle, stomach, thymus primordium, trachea, urethra, ventricular layer, vibrissa	OMIM|602334;HPO|2013|Autosomal recessive inheritance, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome
MGE-RG1	ATP2B4	0.943856926	9.53E-05	ATPase	BrainSpLMD|493;Eurexp|euxassay_013200|lobe, ventral grey horn	OMIM|108732
MGE-RG1	BICC1	0.56358129	9.86E-05	RNA binding protein	BrainSpLMD|80114	OMIM|614295
MGE-RG1	TJP1	1.199644452	9.97E-05	Cell junction protein	BrainSpLMD|7082;Eurexp|euxassay_018809|brain, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, left lung, meninges, metanephros, right lung, spinal cord, trigeminal V	OMIM|601009
MGE-RG1	SLC1A3	0.343985764	0.000104625	Transport/cargo protein	BrainSpLMD|6507;Eurexp|euxassay_001899|mantle layer, thymus primordium, tongue, ventral grey horn, ventricular layer;BrainSpMouseDev|20274	OMIM|600111;HPO|6507|Autosomal dominant inheritance, Cerebellar hypoplasia, Diplopia, Dysarthria, Episodic ataxia, Generalized hypotonia, Hemiparesis, Hemiplegia, Migraine, Motor delay, Nausea, Phonophobia, Photophobia, Seizures, Slurred speech, Truncal ataxia, Vertigo, Vomiting
MGE-RG1	PTCH1	1.530762704	0.00011329	Cell surface receptor	Eurexp|euxassay_017091|axial skeleton, basioccipital bone, basisphenoid bone, bladder, clavicle, ductus deferens, femur, fibula, hindgut, humerus, incisor, lung, mandible, maxilla, mesenchyme, midgut, oesophagus, pelvic girdle, phalanx, radius, rib, scapula, skeleton, stomach, tibia, ulna, urethra, ventricular layer, vibrissa;BrainSpMouseDev|18969	OMIM|601309;COSMIC||skin basal cell, medulloblastoma, skin basal cell, medulloblastoma;HPO|5727|Abnormality of the neck, Abnormality of the ribs, Abnormality of the sternum, Absent nasal septal cartilage, Accelerated skeletal maturation, Agenesis of corpus callosum, Alobar holoprosencephaly, Arnold-Chiari malformation, Autosomal dominant inheritance, Basal cell carcinoma, Bifid ribs, Bilateral cleft lip and palate, Bilateral microphthalmos, Brachydactyly, Bridged sella turcica, Broad face, Calcification of falx cerebri, Cardiac fibroma, Cardiac rhabdomyoma, Cataract, Cerebral calcification, Cleft palate, Cleft upper lip, Coarse facial features, Delayed eruption of teeth, Down-sloping shoulders, Downslanted palpebral fissures, Epicanthus, Feeding difficulties, Flat nasal alae, Flat occiput, Frontal bossing, Fusion of the left and right thalami, Glaucoma, Global developmental delay, Hamartomatous stomach polyps, Hemivertebrae, Heterogeneous, Hydrocephalus, Hyperactivity, Hypertelorism, Hypoplasia of the premaxilla, Hypotelorism, Incomplete penetrance, Intellectual disability, Iris coloboma, Irregular ossification of hand bones, Joint hyperflexibility, Kyphoscoliosis, Kyphosis, Large for gestational age, Long philtrum, Low-set ears, Macrocephaly, Macrotia, Mandibular prognathia, Median cleft lip and palate, Medulloblastoma, Melanocytic nevus, Metopic synostosis, Microphthalmia, Midface retrusion, Midline defect of the nose, Milia, Motor delay, Muscular hypotonia, Narrow mouth, Neoplasm, Odontogenic keratocysts of the jaw, Oral cleft, Orbital cyst, Ovarian carcinoma, Ovarian fibroma, Palmar pits, Panhypopituitarism, Parietal bossing, Pectus excavatum, Plantar pits, Polydactyly, Retinopathy, Scoliosis, Seizures, Semilobar holoprosencephaly, Short 4th metacarpal, Short distal phalanx of the thumb, Short neck, Short nose, Short ribs, Single median maxillary incisor, Skin tags, Spina bifida, Sprengel anomaly, Strabismus, Supernumerary ribs, Tall stature, Thickened ears, Trigonocephaly, Umbilical hernia, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vertebral fusion, Vertebral wedging, Wide nasal bridge
MGE-RG1	HSPB1	0.684602688	0.00011463	Chaperone	BrainSpLMD|3315	OMIM|602195;HPO|3315|Adult onset, Areflexia, Areflexia of lower limbs, Autosomal dominant inheritance, Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Difficulty walking, Distal amyotrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Distal sensory impairment, EMG: chronic denervation signs, EMG: neuropathic changes, Fasciculations, Foot dorsiflexor weakness, Heterogeneous, Hyporeflexia, Hyporeflexia of lower limbs, Impaired pain sensation, Impaired temperature sensation, Limb fasciculations, Lower limb muscle weakness, Muscle cramps, Paresis of extensor muscles of the big toe, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Reduced tendon reflexes, Slow progression, Split hand, Steppage gait, Talipes equinovarus, Ulnar claw, Upper limb amyotrophy
MGE-RG1	AHNAK	1.195518891	0.000118026	Unclassified	BrainSpLMD|79026	OMIM|103390
MGE-RG1	TMEM170A	0.950070602	0.000125617	Unclassified	BrainSpLMD|124491	
MGE-RG1	IDS	0.422802695	0.000125924	Enzyme: Sulphohydrolase	BrainSpLMD|3423	OMIM|300823;HPO|3423|Abnormality of retinal pigmentation, Abnormality of the heart valves, Asthma, Cervical cord compression, Coarse facial features, Congestive heart failure, Delayed eruption of teeth, Dermatan sulfate excretion in urine, Diarrhea, Dysostosis multiplex, Flexion contracture, Hearing impairment, Heparan sulfate excretion in urine, Hepatomegaly, Hoarse voice, Hydrocephalus, Hypertrichosis, Inguinal hernia, Intellectual disability, profound, Intestinal pseudo-obstruction, Kyphosis, Macrocephaly, Macroglossia, Mild short stature, Neurodegeneration, Obstructive sleep apnea, Papilledema, Pes cavus, Ptosis, Recurrent otitis media, Scaphocephaly, Seizures, Severe short stature, Short neck, Short stature, Splenomegaly, Split hand, Thick lower lip vermilion, Tracheobronchomalacia, Umbilical hernia, Widely spaced teeth, X-linked recessive inheritance
MGE-RG1	AK4	0.415199482	0.000138164	Enzyme: Phosphotransferase	BrainSpLMD|205;Eurexp|euxassay_010883|clavicle, hindgut, incisor, midgut, molar, olfactory, rectum, stomach	OMIM|103030
MGE-RG1	COPB1	0.602323592	0.000145321	Transport/cargo protein	BrainSpLMD|1315;Eurexp|euxassay_012132|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, rib, tibia, turbinate bones, vault of skull	OMIM|600959
MGE-RG1	IGFBP5	0.3507706	0.000167791	Adhesion molecule	BrainSpLMD|3488;Eurexp|euxassay_001623|limb, tail, vertebral axis muscle system;BrainSpMouseDev|15784	OMIM|146734
MGE-RG1	NPAS3	1.178460631	0.00016868	Transcription factor	BrainSpLMD|64067;Eurexp|euxassay_009424|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|27131	OMIM|609430
MGE-RG1	BTN3A2	2.269356354	0.000175077	Immunoglobulin	BrainSpLMD|11118	OMIM|613594
MGE-RG1	SFRP2	1.413051361	0.000181392	Secreted polypeptide	BrainSpLMD|6423;BrainSpMouseDev|20082	OMIM|604157
MGE-RG1	WEE1	1.020516482	0.000182383	Dual specificity kinase	BrainSpLMD|7465;Eurexp|euxassay_016462|hindgut, lung, midgut, stomach, submandibular gland primordium, ventricular layer	OMIM|193525
MGE-RG1	TMEM67	1.872238944	0.000184033	Unclassified	BrainSpLMD|91147	OMIM|609884;HPO|91147|Anemia, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the iris, Apnea, Ataxia, Autosomal recessive inheritance, Bile duct proliferation, Biparietal narrowing, Blindness, Breathing dysregulation, Cataract, Cerebellar vermis hypoplasia, Chorioretinal abnormality, Chorioretinal coloboma, Cirrhosis, Cleft palate, Coloboma, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Elevated hepatic transaminases, Elongated superior cerebellar peduncle, Encephalocele, Enlarged fossa interpeduncularis, Episodic tachypnea, Feeding difficulties in infancy, Full cheeks, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Heterogeneous, Hyperreflexia, Hypertelorism, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intrahepatic biliary atresia, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Multiple small medullary renal cysts, Muscular hypotonia, Nephronophthisis, Nephropathy, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic nerve coloboma, Polydactyly, Polydipsia, Polyuria, Portal hypertension, Postaxial foot polydactyly, Postaxial hand polydactyly, Ptosis, Renal corticomedullary cysts, Renal insufficiency, Retinal degeneration, Round face, Sclerocornea, Sloping forehead, Spasticity, Splenomegaly, Stage 5 chronic kidney disease, Talipes, Thickened superior cerebellar peduncle, Tubular atrophy, Tubular basement membrane disintegration, Visual impairment, Wide mouth
MGE-RG1	DGKB	1.555780678	0.000185743	Lipid Kinase	BrainSpLMD|1607;Eurexp|euxassay_009581|anterior abdominal wall, mantle layer, ventricular layer	OMIM|604070
MGE-RG1	DPY19L1P1	1.117200271	0.000187918			
MGE-RG1	MSI1	0.808662505	0.000194406	RNA binding protein	BrainSpLMD|4440	OMIM|603328
MGE-RG1	IFT74	0.49437922	0.000199593	Unclassified	BrainSpLMD|80173;Eurexp|euxassay_011501|olfactory	OMIM|608040;HPO|80173|Autosomal recessive inheritance, Hypogonadism, Intellectual disability, Microcephaly, Obesity, Polydactyly, Rod-cone dystrophy
MGE-RG1	IL6ST	0.711114048	0.000201016	Cytokine receptor	BrainSpLMD|3572;BrainSpMouseDev|15968	OMIM|600694;COSMIC||hepatocellular carcinoma
MGE-RG1	PPARGC1A	2.2190217	0.000204773	Transcription regulatory protein	BrainSpLMD|10891;Eurexp|euxassay_006699|anterior, calyces, dorsal root ganglion, external, facial VII, fundus region, incisor, left ventricle, mantle layer, mesenchyme, oral epithelium, posterior, right ventricle, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|18780	OMIM|604517;HPO|10891|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
MGE-RG1	MGLL	1.629273453	0.000211218	Enzyme: Lipase	BrainSpLMD|11343;Eurexp|euxassay_002003|Meckel's cartilage, dorsal grey horn, dorsal root ganglion, foregut-midgut junction, hindgut, lobe, mantle layer, marginal layer, midgut, oesophagus, pancreas, stomach, ventricular layer, vibrissa	OMIM|609699
MGE-RG1	MLLT10	1.194816269	0.000221076	Transcription factor	BrainSpLMD|8028	OMIM|602409;COSMIC||AL
MGE-RG1	RP11.553L6.5	0.964560811	0.000239404			
MGE-RG1	2-Sep	0.78080073	0.000240101			
MGE-RG1	APBB2	1.208212615	0.000243734	Adapter molecule	BrainSpLMD|323;Eurexp|euxassay_007659|corpus striatum, mantle layer, nasal septum, neural retina, turbinate bones, ventral grey horn	OMIM|602710
MGE-RG1	FAM227A	1.448274465	0.000245437			
MGE-RG1	C9orf3	1.94325256	0.000247063	Aminopeptidase	BrainSpLMD|84909	
MGE-RG1	RPL7P9	0.371878868	0.000247815			
MGE-RG1	RAB31	0.929700286	0.000267284	GTPase	BrainSpLMD|11031;Eurexp|euxassay_003248|axial muscle, basal plate, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, submandibular gland primordium, thoracic, trigeminal V, vagus X, vibrissa	OMIM|605694
MGE-RG1	PARD3B	1.640777332	0.000267723	Unclassified	BrainSpLMD|117583;Eurexp|euxassay_009412|olfactory, ventricular layer, vomeronasal organ	SFARI||Autism, 3 - Suggestive evidence
MGE-RG1	PTPRF	1.447220968	0.00027469	Receptor tyrosine phosphatase	BrainSpLMD|5792	OMIM|179590;HPO|5792|Absent nipple, Autosomal recessive inheritance, Broad nasal tip, Small earlobe, Smooth philtrum
MGE-RG1	NEGR1	1.193476527	0.000281515	Unclassified	BrainSpLMD|257194	OMIM|613173
MGE-RG1	LINC00478	0.392734062	0.000283836			
MGE-RG1	PRPF4B	0.994278172	0.000287102	Serine/threonine kinase	BrainSpLMD|8899;Eurexp|euxassay_005644|embryo	OMIM|602338
MGE-RG1	RREB1	0.814956583	0.000289936	Transcription factor	BrainSpLMD|6239;Eurexp|euxassay_007568|mantle layer;BrainSpMouseDev|44592	OMIM|602209;HPO|6239|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
MGE-RG1	PHGDH	0.740269933	0.000294188	Enzyme: Dehydrogenase	BrainSpLMD|26227	OMIM|606879;HPO|26227|Ablepharon, Abnormality of the philtrum, Absent eyelashes, Absent septum pellucidum, Adducted thumb, Agenesis of corpus callosum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Bifid uterus, Broad foot, Calcaneovalgus deformity, Camptodactyly, Cataract, Cerebellar hypoplasia, Cerebral dysmyelination, Choroid plexus cyst, Cleft palate, Cleft upper lip, Clinodactyly, Congenital cataract, Congenital microcephaly, Cryptorchidism, Dandy-Walker malformation, Decreased fetal movement, Decreased testicular size, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Finger syndactyly, Generalized edema, Growth delay, Hydranencephaly, Hypertelorism, Hypogonadism, Hypsarrhythmia, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Lack of skin elasticity, Large hands, Lissencephaly, Macrogyria, Macrotia, Megaloblastic anemia, Microcephaly, Micrognathia, Micromelia, Microphthalmia, Muscle cramps, Muscular dystrophy, Nystagmus, Opisthotonus, Pachygyria, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Polymicrogyria, Proptosis, Pterygium, Pulmonary hypoplasia, Radial deviation of finger, Renal agenesis, Rocker bottom foot, Seizures, Short neck, Short umbilical cord, Skeletal muscle atrophy, Sloping forehead, Small placenta, Spastic tetraplegia, Spina bifida, Stillbirth, Thick lower lip vermilion, Thick vermilion border, Thrombocytopenia, Toe syndactyly, Transposition of the great arteries, Trismus, Ventricular septal defect, Yellow subcutaneous tissue covered by thin, scaly skin
MGE-RG1	CCDC144CP	1.952628682	0.000305343			
MGE-RG1	RAPGEF2	0.785427916	0.000306979	Guanine nucleotide exchange factor	BrainSpLMD|9693;Eurexp|euxassay_014449|olfactory	OMIM|609530
MGE-RG1	EFR3B	0.427027008	0.000316748	Unclassified	BrainSpLMD|22979	OMIM|616797
MGE-RG1	MBNL2	1.018288157	0.000332344	RNA binding protein	BrainSpLMD|10150;Eurexp|euxassay_005986|cerebral cortex, dorsal root ganglion, embryo, forebrain, glossopharyngeal IX, lung, midbrain, oesophagus, trigeminal V, vagus X	OMIM|607327
MGE-RG1	EPHB1	0.93168702	0.000332749	Receptor tyrosine kinase	BrainSpLMD|2047;Eurexp|euxassay_018955|floorplate, mantle layer, marginal layer, mesenchyme, neural retina, ventricular layer;BrainSpMouseDev|92948	OMIM|600600
MGE-RG1	TOB2	0.949668179	0.000332894	Cell cycle control protein	BrainSpLMD|10766;Eurexp|euxassay_002023|Meckel's cartilage, orbito-sphenoid	OMIM|607396
MGE-RG1	MOV10	1.518401913	0.000356323	Unclassified	BrainSpLMD|4343;Eurexp|euxassay_012341|anterior, midgut, olfactory, otic capsule, pituitary, stomach, turbinate bones	OMIM|610742
MGE-RG1	IFITM3	0.654951715	0.000377148	Integral membrane protein	BrainSpLMD|10410;Eurexp|euxassay_004558|pancreas, submandibular gland primordium, thymus primordium	OMIM|605579
MGE-RG1	DPY19L4	1.612461586	0.000396789	Unclassified	BrainSpLMD|286148	OMIM|613895
MGE-RG1	CREB3L2	1.524833283	0.000396956	Transcription factor	BrainSpLMD|64764;BrainSpMouseDev|83997	OMIM|608834;COSMIC||fibromyxoid sarcoma
MGE-RG1	CASD1	1.281279635	0.000400774	Enzyme: Transferase	BrainSpLMD|64921	OMIM|611686
MGE-RG1	RP2	1.996526637	0.000406318	Structural protein	BrainSpLMD|6102;Eurexp|euxassay_014375|lung, olfactory	OMIM|300757;HPO|6102|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Blindness, Cataract, Chorioretinal degeneration, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Myopia, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge, X-linked inheritance
MGE-RG1	CHP1	0.289460771	0.000408642		BrainSpLMD|11261	OMIM|606988
MGE-RG1	LYRM5	1.243138831	0.000419797			
MGE-RG1	DNALI1	1.188720922	0.00042207	Structural protein	BrainSpLMD|7802;Eurexp|euxassay_011747|choroid invagination, choroid plexus, epithelium, olfactory	OMIM|602135
MGE-RG1	SALL1	1.308083769	0.000442448	Transcription factor	BrainSpLMD|6299;Eurexp|euxassay_000198|basal columns, corpus striatum, epithelium, floor plate, floorplate, glomeruli, handplate, head mesenchyme, intermediate grey horn, isthmus, lateral wall, mantle layer, marginal layer, medulla oblongata, mesenchyme, olfactory, pars tuberalis, penis, skin, telencephalon, thyroid, ventral grey horn, ventricular layer;BrainSpMouseDev|37230	OMIM|602218;HPO|6299|2-3 toe syndactyly, 3-4 finger syndactyly, 3-4 toe syndactyly, Anal atresia, Anal stenosis, Anteriorly placed anus, Aplasia/Hypoplasia of the 3rd toe, Autosomal dominant inheritance, Bifid scrotum, Bifid uterus, Broad thumb, Chorioretinal coloboma, Clinodactyly of the 5th finger, Constipation, Cryptorchidism, Duodenal atresia, External ear malformation, Gastroesophageal reflux, Hearing impairment, Hypospadias, Hypothyroidism, Intellectual disability, Macrotia, Metatarsal synostosis, Microcephaly, Microtia, Overfolded helix, Overfolding of the superior helices, Partial duplication of thumb phalanx, Pes planus, Preauricular skin tag, Preaxial hand polydactyly, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Rectovaginal fistula, Renal insufficiency, Satyr ear, Short metatarsal, Stahl ear, Subcutaneous nodule, Tetralogy of Fallot, Toe clinodactyly, Triphalangeal thumb, Umbilical hernia, Urethral valve, Ventricular septal defect
MGE-RG1	FAM76A	0.820715592	0.00045458	Unclassified	BrainSpLMD|199870;Eurexp|euxassay_006532|embryo	
MGE-RG1	RPL21	0.270498538	0.000466102	Ribosomal subunit		OMIM|603636;HPO|6144|Alopecia, Aplasia/Hypoplasia of the eyebrow, Autosomal dominant inheritance, Hypotrichosis, Hypotrichosis of the scalp, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Sparse or absent eyelashes
MGE-RG1	LIMD1	1.810373658	0.000506749	Transcription regulatory protein	BrainSpLMD|8994	OMIM|604543
MGE-RG1	CRYZ	1.282654799	0.000525018	Enzyme: Oxidoreductase	BrainSpLMD|1429	OMIM|123691
MGE-RG1	CH17.449C21.1	0.76815677	0.000530019			
MGE-RG1	GCA	1.601752779	0.000533453	Calcium binding protein	BrainSpLMD|25801;Eurexp|euxassay_012524|ventricular layer	OMIM|607030
MGE-RG1	SNHG6	0.316402605	0.000567554			OMIM|612215
MGE-RG1	PSMD5.AS1	1.682180044	0.000580311			
MGE-RG1	MIPOL1	0.404694523	0.000590446	Unclassified	BrainSpLMD|145282;Eurexp|euxassay_014095|floorplate	OMIM|606850
MGE-RG1	LZTFL1	1.786728907	0.000685348	Unclassified	BrainSpLMD|54585	OMIM|606568;HPO|54585|Abnormal electroretinogram, Autosomal recessive inheritance, Brachydactyly, Cognitive impairment, Cone/cone-rod dystrophy, External genital hypoplasia, Global developmental delay, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Mesoaxial polydactyly, Multicystic kidney dysplasia, Nystagmus, Obesity, Pigmentary retinopathy, Postaxial hand polydactyly, Renal cyst, Retinal degeneration, Short stature, Stage 5 chronic kidney disease
MGE-RG1	RPL13	0.69958187	0.000687589	Ribonucleoprotein	BrainSpLMD|6137	OMIM|113703
MGE-RG1	MUT	1.438715332	0.000688353	Enzyme: Mutase	BrainSpLMD|4594	OMIM|609058;HPO|4594|Abnormality of the globus pallidus, Anorexia, Autosomal recessive inheritance, Cardiomyopathy, Coma, Dehydration, Delayed CNS myelination, Dysarthria, Dystonia, Failure to thrive, Feeding difficulties, Generalized hypotonia, Global developmental delay, Growth delay, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Immunodeficiency, Intellectual disability, Lethargy, Leukopenia, Metabolic ketoacidosis, Methylmalonic acidemia, Methylmalonic aciduria, Muscular hypotonia, Nausea and vomiting, Pancreatitis, Respiratory distress, Splenomegaly, Stage 5 chronic kidney disease, Thrombocytopenia, Tubulointerstitial nephritis, Vomiting
MGE-RG1	BBIP1	1.123909391	0.000700087			OMIM|613605;HPO|92482|Abnormal electroretinogram, Autosomal recessive inheritance, Brachydactyly, Cataract, Cognitive impairment, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Multicystic kidney dysplasia, Nystagmus, Obesity, Pigmentary retinopathy, Postaxial hand polydactyly, Renal insufficiency, Rod-cone dystrophy, Short stature
MGE-RG1	TTLL4	1.532629586	0.000711711	Enzyme: Ligase	BrainSpLMD|9654	
MGE-RG1	LINC00263	1.259734183	0.000721805			
MGE-RG1	PSAP	0.913449107	0.000764547	Integral membrane protein	BrainSpLMD|5660	OMIM|176801;HPO|5660|Abnormality of eye movement, Abnormality of glycosphingolipid metabolism, Abnormality of the periventricular white matter, Anemia, Autosomal recessive inheritance, Babinski sign, CNS demyelination, Central apnea, Cerebral dysmyelination, Congenital onset, Death in childhood, Death in infancy, Decreased nerve conduction velocity, Developmental regression, Dysarthria, Dysphagia, Dystonia, Erlenmeyer flask deformity of the femurs, Fasciculations, Feeding difficulties, Gait ataxia, Generalized clonic seizures, Generalized hypotonia, Generalized tonic-clonic seizures, Global brain atrophy, Global developmental delay, Hepatomegaly, Hepatosplenomegaly, Hyperkinesis, Hyperreflexia, Hypertonia, Hypoplasia of the corpus callosum, Hyporeflexia, Increased CSF protein, Increased cerebral lipofuscin, Infantile onset, Loss of speech, Mental deterioration, Muscle weakness, Muscular hypotonia, Myoclonus, Neuronal loss in central nervous system, Osteopenia, Peripheral demyelination, Polyneuropathy, Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Seizures, Spastic tetraparesis, Splenomegaly, Thrombocytopenia, Urinary incontinence, Variable expressivity
MGE-RG1	CD99	0.612097091	0.000782601	Unclassified		OMIM|450000
MGE-RG1	RP11.632C17__A.1	1.47348105	0.000792436			
MGE-RG1	STXBP3	1.584717701	0.000803644	Transport/cargo protein	BrainSpLMD|6814	OMIM|608339
MGE-RG1	OBSL1	1.829514908	0.0008056	Cytoskeletal protein	BrainSpLMD|23363	OMIM|610991;HPO|23363|Abnormality of dental enamel, Abnormality of the elbow, Abnormality of the metaphysis, Anteverted nares, Autosomal recessive inheritance, Broad forehead, Bulbous nose, Delayed eruption of teeth, Delayed skeletal maturation, Dolichocephaly, Enlarged thorax, Everted lower lip vermilion, Frontal bossing, Horizontal ribs, Hyperlordosis, Hypoplasia of the ulna, Hypoplastic ischia, Hypoplastic pelvis, Hypoplastic pubic bone, Increased vertebral height, Intrauterine growth retardation, Joint hyperflexibility, Long philtrum, Malar flattening, Micromelia, Midface retrusion, Pointed chin, Prominent nasal tip, Protruding ear, Rocker bottom foot, Scapular winging, Short neck, Short stature, Short thorax, Slender long bone, Thick eyebrow, Thin ribs, Triangular face
MGE-RG1	TSPAN6	0.425355806	0.000820592	Cell surface receptor	BrainSpLMD|7105;Eurexp|euxassay_004870|incisor, mandible, maxilla, molar	OMIM|300191
MGE-RG1	PEG3	1.159135976	0.000833995	Transcription factor	BrainSpLMD|5178	OMIM|601483
MGE-RG1	SLC16A1	0.691958217	0.000891942	Membrane transport protein	BrainSpLMD|6566;Eurexp|euxassay_003351|Meckel's cartilage, axial muscle, capsule, clavicle, epidermis, foregut-midgut junction, glomeruli, hindgut, incisor, left lung, lobe, loop, marginal layer, meninges, midgut, molar, nasal septum, olfactory, pancreas, rectum, right lung, submandibular gland primordium, testis, thymus primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|600682;HPO|6566|Autosomal dominant inheritance, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise-induced muscle cramps, Exercise-induced muscle fatigue, Exercise-induced muscle stiffness, Feeding difficulties, Global developmental delay, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability, Ketoacidosis, Ketotic hypoglycemia, Pancreatic islet-cell hyperplasia
MGE-RG1	SPATS2L	1.093784451	0.000942411	Unclassified	BrainSpLMD|26010;Eurexp|euxassay_013635|bladder, exoccipital bone, mantle layer, mesenchyme, oesophagus, orbito-sphenoid, penis, pharyngo-tympanic tube, tongue, turbinate, vertebral axis muscle system, vibrissa	OMIM|613817
MGE-RG1	WDR19	1.06408034	0.000944443	Transport/cargo protein	BrainSpLMD|57728	OMIM|608151;HPO|57728|Abnormal diaphysis morphology, Abnormal toenail morphology, Abnormality of pelvic girdle bone morphology, Abnormality of retinal pigmentation, Abnormality of the clavicle, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Anteverted nares, Autosomal recessive inheritance, Brachydactyly, Broad distal phalanx of finger, Broad phalanx of the toes, Cataract, Chronic tubulointerstitial nephritis, Cone-shaped epiphysis, Craniosynostosis, Cutis laxa, Dolichocephaly, Ectodermal dysplasia, Elevated serum creatinine, Epicanthus, Everted lower lip vermilion, Finger syndactyly, Frontal bossing, Full cheeks, Global developmental delay, Hepatic cysts, Hip dysplasia, Hypermetropia, Hypertension, Hypodontia, Hypotelorism, Inguinal hernia, Joint hyperflexibility, Joint hypermobility, Metaphyseal widening, Microdontia, Micromelia, Myopia, Narrow chest, Nephronophthisis, Nephropathy, Osteoporosis, Pancreatic cysts, Pectus excavatum, Pes valgus, Premature ovarian insufficiency, Progressive visual loss, Prominent occiput, Proteinuria, Reduced visual acuity, Renal hypoplasia, Respiratory insufficiency, Retinal dystrophy, Rhizomelia, Rod-cone dystrophy, Short distal phalanx of finger, Short foot, Short iliac bones, Short stature, Short thorax, Skeletal dysplasia, Sparse hair, Stage 5 chronic kidney disease, Thin upper lip vermilion, Thoracic dysplasia, Visual impairment
MGE-RG1	GPC1	1.911007873	0.000949865	Cell surface receptor	BrainSpLMD|2817;Eurexp|euxassay_007466|cervical, cervico-thoracic, clavicle, cochlea, diaphragm, dorsal root ganglion, exoccipital bone, extrinsic ocular muscle, facial VII, femur, fibula, glossopharyngeal IX, humerus, incisor, lip, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, neural retina, nucleus pulposus, olfactory, orbito-sphenoid, pancreas, pelvic girdle, radius, rest of mesenchyme, rib, saccule, skeletal muscle, sternum, stomach, submandibular gland primordium, thoracic, thymus primordium, tibia, trigeminal V, ulna, vagus X, valve, vault of skull, ventral grey horn, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|600395
MGE-RG1	SLC2A3	0.364858497	0.000960897	Membrane transport protein	BrainSpLMD|6515	OMIM|138170;HPO|6515|Abnormality of movement, Abnormality of the voice, Behavioral abnormality, Cerebral cortical atrophy, Dementia, Developmental regression, EEG abnormality, Spasticity
MGE-RG1	PALLD	0.971392207	0.000970469	Unclassified	BrainSpLMD|23022	OMIM|608092
MGE-RG1	10-Sep	1.08384479	0.000976711			
MGE-RG1	ALDH6A1	0.910671026	0.000984356	Enzyme: Dehydrogenase	BrainSpLMD|4329;Eurexp|euxassay_018815|choroid invagination, naris, nasal septum, otic capsule, turbinate bones, ventricular layer	OMIM|603178;HPO|4329|Abnormal facial shape, Autosomal recessive inheritance, Bulbous nose, Cataract, Delayed myelination, Depressed nasal bridge, Downslanted palpebral fissures, Dystonia, Epicanthus, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Long philtrum, Metabolic acidosis, Microcephaly, Microphthalmia, Muscular hypotonia, Phenotypic variability, Short nose, Tented upper lip vermilion
MGE-RG1	FAM107A	1.111731535	0.000995123	Unclassified	BrainSpLMD|11170;Eurexp|euxassay_005179|inner ear, olfactory	OMIM|608295
MGE-RG1	RPL41	0.283598349	0.001089789	Unclassified	BrainSpLMD|6171	OMIM|613315
MGE-RG1	APPBP2	1.091698529	0.001103309	Adapter molecule	BrainSpLMD|10513	OMIM|605324
MGE-RG1	EGR1	0.962262183	0.001103322	Transcription factor	BrainSpLMD|1958;Eurexp|euxassay_008911|mesenchyme;BrainSpMouseDev|13431	OMIM|128990
MGE-RG1	FAM114A1	1.074301531	0.0011093	Unclassified	BrainSpLMD|92689;Eurexp|euxassay_002429|Meckel's cartilage, cranium	
MGE-RG1	FAM221A	1.104755421	0.00111183	Unclassified	BrainSpLMD|340277	
MGE-RG1	MOB1A	0.666181335	0.001137956	Unclassified	BrainSpLMD|55233	OMIM|609281
MGE-RG1	AC007740.1	1.040491601	0.001186651			
MGE-RG1	RAB33B	0.882361079	0.001241045	GTPase	BrainSpLMD|83452	OMIM|605950;HPO|83452|Autosomal recessive inheritance, Barrel-shaped chest, Broad femoral neck, Broad phalanx, Decreased body weight, Disproportionate short-trunk short stature, Flattened femoral head, Genu valgum, Hypoplasia of the odontoid process, Pectus carinatum, Pes planus, Platyspondyly, Short metacarpal, Short metatarsal, Short neck, Short phalanx of finger
MGE-RG1	CTSL	1.614837431	0.001242631	Cysteine protease	BrainSpLMD|1514	OMIM|116880
MGE-RG1	GSTK1	1.037664753	0.001272929	Enzyme: Glutathione transferase	BrainSpLMD|373156	OMIM|602321
MGE-RG1	CFL2	1.160396066	0.001292192	Cytoskeletal associated protein	BrainSpLMD|1073	OMIM|601443;HPO|1073|Areflexia, Autosomal recessive inheritance, Delayed gross motor development, Gait disturbance, Generalized hypotonia, Gowers sign, High palate, Joint hypermobility, Minicore myopathy, Muscle weakness, Muscular hypotonia, Neck muscle weakness, Nemaline bodies, Slow progression
MGE-RG1	RP11.147L13.12	0.338644544	0.001317429			
MGE-RG1	DOCK1	1.002208132	0.001348628	Guanine nucleotide exchange factor	BrainSpLMD|1793	SFARI||Autism, 4 - Minimal evidence;OMIM|601403
MGE-RG1	PSD3	0.789791833	0.001427597	Guanine nucleotide exchange factor	BrainSpLMD|23362	SFARI||Autism, 4 - Minimal evidence;OMIM|614440
MGE-RG1	ARHGEF40	0.949622576	0.001433818		BrainSpLMD|55701	OMIM|610018
MGE-RG1	TSPAN2	1.232612196	0.001448682	Integral membrane protein	BrainSpLMD|10100;Eurexp|euxassay_012916|pituitary	OMIM|613133
MGE-RG1	MTND2P28	0.391658096	0.001488421			
MGE-RG1	HIST1H1E	0.266800994	0.001503473	DNA binding protein	BrainSpLMD|3008;Eurexp|euxassay_005923|embryo	OMIM|142220;HPO|3008|Accelerated skeletal maturation, Amblyopia, Astigmatism, Autosomal dominant inheritance, Camptodactyly, Full cheeks, Global developmental delay, Hypertonia, Intellectual disability, Kyphoscoliosis, Macrocephaly, Neonatal hypotonia, Nevus, Strabismus, Talipes equinovarus, Telecanthus
MGE-RG1	AC016739.2	0.443868117	0.001563899			
MGE-RG1	MAGT1	1.049490457	0.001614512	Unclassified	BrainSpLMD|84061	OMIM|300715;HPO|84061|Decreased T cell activation, Decreased number of CD4+ T cells, Immunodeficiency, Lymphoma, Recurrent viral infections, X-linked inheritance
MGE-RG1	TAPBP	0.668745337	0.001634944	Chaperone	BrainSpLMD|6892;Eurexp|euxassay_009813|dorsal root ganglion, facial VII, glossopharyngeal IX, thymus primordium, trigeminal V, ventral grey horn	OMIM|601962;HPO|6892|Autosomal recessive inheritance, Bronchiectasis, Bronchiolitis, Chronic otitis media, Chronic sinusitis, Ectopia lentis, Emphysema, Nasal polyposis, Recurrent bronchitis, Skin ulcer
MGE-RG1	GMPS	0.682099462	0.001722227	Enzyme: Amidinotransferase	BrainSpLMD|8833	OMIM|600358;COSMIC||AML
MGE-RG1	CTDSP2	1.050590274	0.001736712	Enzyme: Phosphatase	BrainSpLMD|10106;Eurexp|euxassay_004324|alimentary system, cardiovascular system, gland, integumental system, limb, renal/urinary system, reproductive system, respiratory system, skeleton, tail	OMIM|608711
MGE-RG1	RIT1	1.408117204	0.001737272	GTPase	BrainSpLMD|6016;Eurexp|euxassay_012013|Meckel's cartilage, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, orbito-sphenoid, petrous part, rib, scapula, tibia, turbinate	OMIM|609591;HPO|6016|Abnormal bleeding, Abnormal dermatoglyphics, Abnormal hair quantity, Abnormal platelet function, Abnormal pulmonary valve morphology, Abnormality of coagulation, Abnormality of the spleen, Abnormality of the sternum, Aplasia/Hypoplasia of the abdominal wall musculature, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Coarse hair, Cryptorchidism, Curly hair, Cystic hygroma, Delayed skeletal maturation, Downslanted palpebral fissures, Dysarthria, Enlarged thorax, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Hepatomegaly, High forehead, High palate, Hyperkeratosis, Hypertelorism, Hypertrophic cardiomyopathy, Hypogonadotrophic hypogonadism, Joint hyperflexibility, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Micrognathia, Midface retrusion, Muscle weakness, Muscular hypotonia, Pectus carinatum, Pectus excavatum, Polyhydramnios, Proptosis, Ptosis, Pulmonary artery stenosis, Pulmonic stenosis, Relative macrocephaly, Scoliosis, Short neck, Short stature, Strabismus, Thick lower lip vermilion, Thickened helices, Thickened nuchal skin fold, Triangular face, Ventricular septal defect, Webbed neck, Wide intermamillary distance
MGE-RG1	BCLAF1	0.252226405	0.001742074	Transcription factor	BrainSpLMD|9774	OMIM|612588;COSMIC||melanoma, SCC
MGE-RG1	RPL3P4	0.408799455	0.001847888			
MGE-RG1	TTBK2	0.65306257	0.001872111	Protease	BrainSpLMD|146057;Eurexp|euxassay_010933|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X	OMIM|611695;HPO|146057|Adult onset, Autosomal dominant inheritance, Cerebellar atrophy, Difficulty walking, Dysarthria, Dysphagia, Gait imbalance, Horizontal nystagmus, Hyperreflexia, Jerky ocular pursuit movements, Nystagmus, Progressive cerebellar ataxia, Vertical nystagmus
MGE-RG1	SOX6	0.589665568	0.001875478	Transcription factor	BrainSpLMD|55553;BrainSpMouseDev|20441	OMIM|607257
MGE-RG1	NBAS	1.209259706	0.001876216	Unclassified	BrainSpLMD|51594	OMIM|608025;HPO|51594|Autosomal recessive inheritance, Brachycephaly, Brachydactyly, Cutis laxa, Epicanthus, Facial asymmetry, Fine hair, Long face, Long philtrum, Micromelia, Muscular hypotonia, Narrow forehead, Nonprogressive visual loss, Optic atrophy, Postnatal growth retardation, Prominent glabella, Proptosis, Reduced visual acuity, Sandal gap, Short neck, Short stature, Thick eyebrow, Thin vermilion border
MGE-RG1	IRF2	1.642821402	0.001906637	Transcription factor	BrainSpLMD|3660;BrainSpMouseDev|16136	OMIM|147576
MGE-RG1	IFT57	1.579639039	0.001927344	Unclassified	BrainSpLMD|55081	OMIM|606621
MGE-RG1	SC5D	0.672705235	0.002007709	Enzyme: Oxidase	BrainSpLMD|6309;Eurexp|euxassay_003227|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, lobe, spinal cord, thoracic, thymus primordium, trigeminal V, vagus X	OMIM|602286;HPO|6309|Abnormal platelet morphology, Abnormality of the thoracic spine, Anisopoikilocytosis, Anteverted nares, Arnold-Chiari malformation, Autosomal recessive inheritance, Biparietal narrowing, Bulbous nose, Cataract, Cerebellar cortical atrophy, Cerebral calcification, Downslanted palpebral fissures, Downturned corners of mouth, Epicanthus, Failure to thrive, Full cheeks, Generalized hypotonia, Gingival overgrowth, Global developmental delay, Hearing impairment, Hepatic failure, Hepatomegaly, High palate, Horseshoe kidney, Hypoplasia of penis, Increased mean platelet volume, Intrahepatic cholestasis, Intrauterine growth retardation, Long philtrum, Lumbosacral meningocele, Meningocele, Microcephaly, Microcornea, Micrognathia, Muscular hypotonia, Myoclonus, Narrow forehead, Opacification of the corneal stroma, Postaxial foot polydactyly, Postaxial hand polydactyly, Prominent metopic ridge, Ptosis, Seizures, Short nose, Sloping forehead, Specific learning disability, Talipes, Thrombocytopenia, Toe syndactyly
MGE-RG1	MTCL1	1.246057803	0.002009279	Unclassified	BrainSpLMD|23255;Eurexp|euxassay_013715|axial skeleton, brain, calyces, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, incisor, left lung, mesenchyme, midgut, molar, olfactory, rectum, rest of mesenchyme, retina, right lung, skeletal muscle, spinal cord, stomach, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|615766
MGE-RG1	GLUD1	0.778417035	0.002061411	Enzyme: Dehydrogenase	BrainSpLMD|2746	OMIM|138130;HPO|2746|Asymptomatic hyperammonemia, Autosomal dominant inheritance, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability
MGE-RG1	RP3.525N10.2	0.333129301	0.002148246			
MGE-RG1	POLR1C	0.873300071	0.002186061	RNA polymerase	BrainSpLMD|9533	OMIM|610060;HPO|9533|Abnormality of bone mineral density, Abnormality of the outer ear, Absent eyelashes, Ataxia, Autosomal recessive inheritance, CNS hypomyelination, Cleft eyelid, Cleft palate, Conductive hearing impairment, Downslanted palpebral fissures, Frontal bossing, Global developmental delay, Hypergonadotropic hypogonadism, Hypodontia, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Intellectual disability, Iris coloboma, Leukodystrophy, Low anterior hairline, Lower eyelid coloboma, Malar flattening, Mandibulofacial dysostosis, Micrognathia, Microtia, Midface retrusion, Narrow internal auditory canal, Open bite, Reduced number of teeth, Retrognathia, Short face, Skeletal dysplasia, Strabismus, Tremor, Visual impairment, Wide nasal bridge
MGE-RG1	NOC3L	1.379925881	0.002192161	Unclassified	BrainSpLMD|64318;Eurexp|euxassay_001504|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, nucleus pulposus, olfactory, thoracic, trigeminal V, urethra, vagus X, ventral grey horn	OMIM|610769
MGE-RG1	RFTN2	0.889327072	0.002241325	Unclassified	BrainSpLMD|130132	
MGE-RG1	CDH2	0.590850239	0.002244282	Adhesion molecule	BrainSpLMD|1000;Eurexp|euxassay_003128|L1, L2, L3, L4, L5, Meckel's cartilage, annulus fibrosus, axial skeleton, basisphenoid bone, brain, cervical, cervico-thoracic, chondrocranium, cortex, cranium, dorsal root ganglion, epidermis, exoccipital bone, facial VII, foregut-midgut junction, forelimb, frontal bone primordium, glossopharyngeal IX, head mesenchyme, hindgut, hindlimb, incisor, leg, lip, lumbar region, mesenchyme, midgut, molar, neural retina, nucleus polposus, nucleus pulposus, olfactory, orbito-sphenoid, penis, pituitary, rib, sacral region, skin, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|12343	OMIM|114020
MGE-RG1	WAC	0.47939156	0.002294985	Unclassified	BrainSpLMD|51322	SFARI||Autism, 2 - Strong candidate;OMIM|615049;HPO|51322|Abnormality of the pinna, Aggressive behavior, Agitation, Anxiety, Astigmatism, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Brachycephaly, Broad forehead, Bulbous nose, Coarse facial features, Deeply set eye, Delayed speech and language development, Depressed nasal bridge, Downturned corners of mouth, Full cheeks, Generalized hypotonia, Hearing impairment, Hirsutism, Hypertelorism, Infantile onset, Inverted nipples, Midface retrusion, Myopia, Posteriorly rotated ears, Prominent forehead, Short neck, Strabismus, Synophrys, Thick eyebrow, Thin upper lip vermilion
MGE-RG1	SEPW1	0.315971887	0.002299029			
MGE-RG1	LINC00925	1.343876909	0.002302225			
MGE-RG1	DNER	1.013830027	0.00231087	Cell surface receptor	BrainSpLMD|92737;Eurexp|euxassay_003135|axial skeleton, cervical, cervico-thoracic, diencephalon, dorsal root ganglion, extrinsic ocular muscle, facial VII, foregut-midgut junction, glossopharyngeal IX, head mesenchyme, hindbrain, hindgut, limb, mantle layer, marginal layer, mesenchyme, midbrain, midgut, neural retina, nucleus pulposus, olfactory, penis, skeletal muscle, spinal cord, stomach, stroma, tail, thoracic, tongue, trigeminal V, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|86552	SFARI||Autism, 4 - Minimal evidence;OMIM|607299
MGE-RG1	NPC2	1.496948083	0.002358609	Transport/cargo protein	BrainSpLMD|10577;Eurexp|euxassay_001964|cervical, cervico-thoracic, left lung, mantle layer, marginal layer, right lung, stomach, thoracic, trachea, ventral grey horn, ventricular layer	OMIM|601015;HPO|10577|Abnormal cholesterol homeostasis, Ataxia, Autosomal recessive inheritance, Bone-marrow foam cells, Cataplexy, Dementia, Dysarthria, Dysphagia, Dystonia, Fetal ascites, Foam cells in visceral organs and CNS, Generalized hypotonia, Global developmental delay, Hepatomegaly, Heterogeneous, Intellectual disability, Loss of speech, Low cholesterol esterification rates, Neurofibrillary tangles, Onset, Perseveration, Prolonged neonatal jaundice, Psychosis, Respiratory failure, Sea-blue histiocytosis, Seizures, Spasticity, Splenomegaly, Stereotypy, Vertical supranuclear gaze palsy
MGE-RG1	CETN2	0.824727212	0.002365963	Calcium binding protein	BrainSpLMD|1069;Eurexp|euxassay_015485|choroid plexus, lateral recess	OMIM|300006
MGE-RG1	SS18	0.642690206	0.002418086	Transcription regulatory protein	BrainSpLMD|6760	OMIM|600192;COSMIC||synovial sarcoma
MGE-RG1	PVRL3	1.37578305	0.002498906			
MGE-RG1	FAM208A	0.9507361	0.002563999	Cell cycle control protein	BrainSpLMD|23272	OMIM|616493
MGE-RG1	TNS3	1.46586884	0.002652344	Integral membrane protein;Cell surface receptor	BrainSpLMD|64759;Eurexp|euxassay_014013|axial skeleton, ductus deferens, exoccipital bone, mandible, maxilla, mesenchyme, nasal septum, orbito-sphenoid, spleen primordium, trachea, turbinate, vibrissa	OMIM|606825
MGE-RG1	SYNE1	0.977613336	0.002812752	Unclassified	BrainSpLMD|23345	SFARI||Autism, 4 - Minimal evidence;OMIM|608441;HPO|23345|Adult onset, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cerebellar atrophy, Childhood onset, Dysarthria, Dysmetria, Elevated serum creatine phosphokinase, Gait ataxia, Left ventricular septal hypertrophy, Limb ataxia, Muscular dystrophy, Neck muscle weakness, Nystagmus, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Slow progression
MGE-RG1	TDRD3	1.223691407	0.002820727	RNA binding protein	BrainSpLMD|81550	OMIM|614392
MGE-RG1	OSBPL1A	1.641496257	0.002829578	Transport/cargo protein	BrainSpLMD|114876	OMIM|606730
MGE-RG1	LGALS3BP	1.77960445	0.002889989	Extracellular matrix protein	BrainSpLMD|3959;Eurexp|euxassay_002816|axial muscle, choroid plexus, foregut-midgut junction, hindgut, integumental system, lateral recess, lobe, midgut, pancreas, rectum, renal/urinary system, stomach, thymus primordium	OMIM|600626
MGE-RG1	MRPL3	1.553771065	0.002998821	Ribosomal subunit	BrainSpLMD|11222	OMIM|607118;HPO|11222|Autosomal recessive inheritance, Dyspnea, Elevated hepatic transaminases, Failure to thrive, Feeding difficulties, Global developmental delay, Hepatomegaly, Hyperalaninemia, Hypertrophic cardiomyopathy, Increased serum lactate
MGE-RG1	CRB1	0.846044061	0.003008334	Unclassified	BrainSpLMD|23418	OMIM|604210;HPO|23418|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Encephalocele, Esotropia, Glaucoma, Hemiplegia/hemiparesis, High-grade hypermetropia, Hyperinsulinemia, Hypermetropia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Muscular hypotonia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paravenous chorioretinal atrophy, Pendular nystagmus, Photophobia, Progressive night blindness, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe visual impairment, Undetectable electroretinogram, Visual impairment, Vitreoretinal degeneration, Wide nasal bridge
MGE-RG1	SULT1C4	1.233096194	0.003041524	Enzyme: Sulphotransferase	BrainSpLMD|27233	OMIM|608357
MGE-RG1	GAB1	0.624867089	0.003188459	Adapter molecule	BrainSpLMD|2549	OMIM|604439
MGE-RG1	TFDP2	0.756920066	0.003212206	Transcription factor	BrainSpLMD|7029;Eurexp|euxassay_009223|liver, marginal layer, nasal capsule, neural retina, olfactory, ventricular layer;BrainSpMouseDev|84320	OMIM|602160
MGE-RG1	USP53	1.006832574	0.00322713	Ubiquitin proteasome system protein	BrainSpLMD|54532;Eurexp|euxassay_014191|incisor, molar, olfactory, submandibular gland primordium	OMIM|617431
MGE-RG1	DYNC2LI1	0.414787375	0.00332621	Motor protein	BrainSpLMD|51626	OMIM|617083;HPO|51626|Abnormality of oral frenula, Abnormality of oral mucosa, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the fingernails, Abnormality of the heart valves, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Aplasia/Hypoplasia of the lungs, Atrial septal defect, Atrioventricular canal defect, Autosomal recessive inheritance, Brachydactyly, Capitate-hamate fusion, Cone-shaped epiphysis, Conical incisor, Cryptorchidism, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Epispadias, Failure to thrive, Foot polydactyly, Genu valgum, Hand polydactyly, Hepatomegaly, Horizontal ribs, Hypodontia, Hypoplastic toenails, Hypospadias, Intrauterine growth retardation, Low-set ears, Microdontia, Micromelia, Nail dysplasia, Narrow chest, Neonatal short-limb short stature, Polyhydramnios, Postaxial hand polydactyly, Respiratory insufficiency, Short distal phalanx of finger, Short foot, Short ribs, Short stature, Short thorax, Situs inversus totalis, Skeletal dysplasia, Splenomegaly, Strabismus, Ventricular septal defect
MGE-RG1	BRD2	0.807495798	0.003331449	Transcription regulatory protein	BrainSpLMD|6046;Eurexp|euxassay_012809|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mandible, mantle layer, maxilla, orbito-sphenoid, submandibular gland primordium, trigeminal V, vagus X	OMIM|601540
MGE-RG1	SON	0.478083794	0.003483414	Transcription factor	BrainSpLMD|6651;Eurexp|euxassay_007178|adrenal gland, cervical, cervico-thoracic, dorsal root ganglion, floorplate, glossopharyngeal IX, heart, mantle layer, medulla oblongata, metencephalon, oesophagus, olfactory lobe, thoracic, trigeminal V, vagus X, ventricular layer	OMIM|182465;HPO|6651|Abnormality of the dentition, Abnormality of the ribs, Arachnoid cyst, Autosomal dominant inheritance, Cerebellar hypoplasia, Cleft palate, Cortical visual impairment, Craniosynostosis, Deeply set eye, Depressed nasal bridge, Developmental regression, Downslanted palpebral fissures, Facial asymmetry, Failure to thrive, Feeding difficulties, Flexion contracture, Frontal bossing, Generalized hypotonia, Global developmental delay, Hemivertebrae, High palate, Horseshoe kidney, Hypermetropia, Hypoplasia of the corpus callosum, Intellectual disability, Joint hypermobility, Kyphosis, Low-set ears, Narrow mouth, Optic atrophy, Scoliosis, Short foot, Short philtrum, Short stature, Small hand, Strabismus, Thin upper lip vermilion, Ventriculomegaly, Wide nasal bridge
MGE-RG1	RPL7P1	0.374496538	0.003619669			
MGE-RG1	WDR35	1.07550606	0.003721225	Unclassified	BrainSpLMD|57539	OMIM|613602;HPO|57539|Abdominal distention, Abnormal diaphysis morphology, Abnormal pelvis bone ossification, Abnormal toenail morphology, Abnormality of cardiovascular system morphology, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormality of the pinna, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Anteverted nares, Autosomal recessive inheritance, Blepharophimosis, Bowing of the long bones, Brachydactyly, Cleft upper lip, Congenital hepatic fibrosis, Craniosynostosis, Cryptorchidism, Cystic hygroma, Depressed nasal bridge, Disproportionate short-limb short stature, Dolichocephaly, Ectodermal dysplasia, Epicanthus, Everted lower lip vermilion, Finger syndactyly, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypertelorism, Hypodontia, Hypoplasia of penis, Hypoplastic scapulae, Hypospadias, Hypotelorism, Inguinal hernia, Joint hyperflexibility, Joint laxity, Lethal skeletal dysplasia, Long philtrum, Low-set ears, Macrocephaly, Microdontia, Micrognathia, Micromelia, Narrow chest, Osteoporosis, Pectus excavatum, Polycystic kidney dysplasia, Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Prominent occiput, Pulmonary hypoplasia, Renal cyst, Renal hypoplasia, Respiratory insufficiency, Rhizomelia, Short distal phalanx of finger, Short foot, Short long bone, Short neck, Short palm, Short ribs, Short thorax, Sparse hair, Syndactyly, Telecanthus, Thoracic dysplasia, Urethrovaginal fistula, Uterus didelphys, Wide nose, Widely spaced teeth
MGE-RG1	PGK1	0.899450886	0.003768165	Enzyme: Phosphotransferase	BrainSpLMD|5230;Eurexp|euxassay_018885|cerebral cortex, clavicle, diaphragm, dorsal root ganglion, facial VII, heart, incisor, lung, mandible, mantle layer, marginal layer, mesenchyme, metanephros, nasal cavity, nasal septum, nucleus pulposus, peripheral nervous system, physiological umbilical hernia, renal/urinary system, salivary gland, stomach, submandibular gland primordium, thymus primordium, tooth, trigeminal V, turbinate bones, vagus X, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|311800;HPO|5230|Ataxia, Delayed speech and language development, Emotional lability, Exercise intolerance, Exercise-induced muscle cramps, Exercise-induced myoglobinuria, Intellectual disability, Migraine, Phenotypic variability, Reticulocytosis, Rhabdomyolysis, Seizures, X-linked recessive inheritance
MGE-RG1	HIGD2A	0.445407293	0.003776064	Unclassified	BrainSpLMD|192286	
MGE-RG1	CASC10	0.383538121	0.003822614	Unclassified		
MGE-RG1	ZNF830	0.858010049	0.003840329	Unclassified	BrainSpLMD|91603;Eurexp|euxassay_018059|submandibular gland primordium	
MGE-RG1	RCN1	1.4092796	0.003912475	Calcium binding protein	BrainSpLMD|5954;Eurexp|euxassay_006169|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, peripheral nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|19435	OMIM|602735
MGE-RG1	NR2E1	1.24040521	0.003981961	Nuclear receptor	BrainSpLMD|7101;Eurexp|euxassay_007190|epidermis, olfactory, retina, ventricular layer;BrainSpMouseDev|21664	OMIM|603849
MGE-RG1	RPL7P23	0.314974385	0.004015388			
MGE-RG1	GNB2L1	0.25768183	0.004017119			
MGE-RG1	LSS	0.575235232	0.00408208	Enzyme: Mutase	BrainSpLMD|4047;Eurexp|euxassay_017872|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lobe, mandible, mantle layer, molar, neural retina, thoracic, thymus primordium, trigeminal V, ventricular layer, vibrissa	OMIM|600909;HPO|4047|Autosomal recessive inheritance, Congenital cataract, Visual loss
MGE-RG1	MOK	0.915936489	0.00410719	Serine/threonine kinase	BrainSpLMD|5891	OMIM|605762
MGE-RG1	AK3	1.185781069	0.004157847	Enzyme: Phosphotransferase	BrainSpLMD|50808;Eurexp|euxassay_003106|submandibular gland primordium, ventricular layer	OMIM|609290
MGE-RG1	KCNN3	0.941844392	0.004201018	Intracellular ligand gated channel	BrainSpLMD|3782	OMIM|602983
MGE-RG1	RDX	0.707494219	0.004306894	Cytoskeletal associated protein	BrainSpLMD|5962	OMIM|179410;HPO|5962|Autosomal recessive inheritance, Infantile onset, Profound sensorineural hearing impairment
MGE-RG1	APOA1BP	1.369488648	0.004435756			
MGE-RG1	SCD	0.439655376	0.004454751	Enzyme: Oxidoreductase	BrainSpLMD|6319;Eurexp|euxassay_012236|adrenal gland, axial skeleton, basal columns, cervico-thoracic, clavicle, dorsal root ganglion, ductus deferens, embryo, facial VII, glossopharyngeal IX, hindgut, incisor, larynx, lens, lobe, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, neural retina, nucleus pulposus, orbito-sphenoid, otic capsule, pancreas, petrous part, pharyngo-tympanic tube, pituitary, rectum, rib, skeletal muscle, stomach, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, turbinate, urethra, vagus X, vault of skull, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|604031
MGE-RG1	EFNA5	0.402991177	0.004551051	Ligand	BrainSpLMD|1946;BrainSpMouseDev|13418	OMIM|601535
MGE-RG1	FOSB	0.604017319	0.00471075	Transcription factor	BrainSpLMD|2354	OMIM|164772
MGE-RG1	CDC42EP4	0.561908986	0.004740289	Cytoskeletal protein	BrainSpLMD|23580;Eurexp|euxassay_003531|left lung, right lung, ventricular layer, vibrissa	OMIM|605468
MGE-RG1	MCM3	1.222918853	0.004740678	DNA binding protein	BrainSpLMD|4172;Eurexp|euxassay_001694|marginal layer, ventricular layer	OMIM|602693
MGE-RG1	PCNXL4	0.743326921	0.004784084			
MGE-RG1	HSP90B1	0.736201001	0.004808724	Heat shock protein	BrainSpLMD|7184;Eurexp|euxassay_000099|body-wall mesenchyme, dermis, epidermis, nucleus pulposus	OMIM|191175
MGE-RG1	AFF2	2.054045667	0.004939534	Transcription regulatory protein	BrainSpLMD|2334	SFARI||Autism, 4 - Minimal evidence;OMIM|300806;HPO|2334|Abnormality of metabolism/homeostasis, Aggressive behavior, Agitation, Delayed speech and language development, Epicanthus, Hyperactivity, Impulsivity, Intellectual disability, Obsessive-compulsive behavior, Prominent nasal bridge, X-linked recessive inheritance
MGE-RG1	UBA2	0.479746727	0.004950607	Ubiquitin proteasome system protein	BrainSpLMD|10054	OMIM|613295
MGE-RG1	IFT80	0.686195445	0.005124825	Adapter molecule	BrainSpLMD|57560;Eurexp|euxassay_002024|ventricular layer	OMIM|611177;HPO|57560|Abdominal distention, Abnormal pelvis bone ossification, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Autosomal recessive inheritance, Brachydactyly, Broad palm, Cleft upper lip, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypoplasia of penis, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Mesomelia, Micrognathia, Micromelia, Narrow chest, Postaxial hand polydactyly, Renal hypoplasia, Respiratory insufficiency, Rhizomelia, Short foot, Short metacarpal, Short palm, Short ribs, Short thorax, Skeletal dysplasia, Urethrovaginal fistula, Uterus didelphys, Wide nose
MGE-RG1	FSTL5	1.288164147	0.005264978	Extracellular matrix protein	BrainSpLMD|56884	
MGE-RG1	TSC22D2	0.599751877	0.005305836	Unclassified	BrainSpLMD|9819	OMIM|617724
MGE-RG1	MFGE8	0.638154759	0.005353081	Adhesion molecule	BrainSpLMD|4240;Eurexp|euxassay_010873|Meckel's cartilage, epithelium, oesophagus, ovary, pharyngo-tympanic tube, stomach, submandibular gland primordium, ventricular layer;BrainSpMouseDev|17073	OMIM|602281
MGE-RG1	SPAG9	0.406415259	0.005485119	Integral membrane protein	BrainSpLMD|9043;Eurexp|euxassay_014482|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vestibulocochlear VIII	OMIM|605430
MGE-RG1	MAGI2.AS3	0.474083142	0.005539435			
MGE-RG1	CDC14B	0.616393546	0.00555399	Dual specificity phosphatase	BrainSpLMD|8555	OMIM|603505
MGE-RG1	RABGAP1L	0.645263212	0.005557889	GTPase activating protein	BrainSpLMD|9910	OMIM|609238
MGE-RG1	IL3RA	0.305832989	0.005693412	Cytokine receptor		OMIM|430000
MGE-RG1	MTRNR2L1	0.478672582	0.005765854			OMIM|616985
MGE-RG1	NUCB2	0.736359013	0.005791708	Calcium binding protein	BrainSpLMD|4925;BrainSpMouseDev|32802	OMIM|608020
MGE-RG1	RBM23	0.356439448	0.005815164	Transcription regulatory protein	BrainSpLMD|55147	
MGE-RG1	UBXN2A	0.567737158	0.005853094	Unclassified	BrainSpLMD|165324	
MGE-RG1	GBAS	0.818195419	0.005997347			
MGE-RG1	PPP1R12A	0.349619124	0.006005148	Regulatory/other subunit	BrainSpLMD|4659	OMIM|602021
MGE-RG1	BROX	0.601974193	0.006092956	Unclassified		
MGE-RG1	NBPF9	0.419069527	0.006213939	Unclassified		OMIM|613999
MGE-RG1	CRIM1	0.471328588	0.006264295	Integral membrane protein	BrainSpLMD|51232;Eurexp|euxassay_014038|lens, mantle layer, physiological umbilical hernia, ventral grey horn, vibrissa	OMIM|606189
MGE-RG1	MAN2A1	0.9018403	0.00627582	Enzyme: Glycosidase	BrainSpLMD|4124	OMIM|154582
MGE-RG1	AKAP10	0.717331438	0.006276432	Anchor protein	BrainSpLMD|11216	OMIM|604694
MGE-RG1	GCLM	0.535331682	0.006371573	Enzyme: Ligase	BrainSpLMD|2730;Eurexp|euxassay_018515|left, right	OMIM|601176
MGE-RG1	HADHA	0.680530898	0.006480158	Enzyme: Dehydrogenase	BrainSpLMD|3030	OMIM|600890;HPO|3030|Abnormality of the amniotic fluid, Autosomal recessive inheritance, Cardiomyopathy, Congestive heart failure, Decreased activity of 3-hydroxyacyl-CoA dehydrogenase, Dilated cardiomyopathy, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Generalized muscle weakness, Global developmental delay, Hepatomegaly, Hydrops fetalis, Hyperammonemia, Hypoglycemia, Hypoketotic hypoglycemia, Lactic acidosis, Muscular hypotonia, Myalgia, Myoglobinuria, Peripheral neuropathy, Pigmentary retinopathy, Prenatal maternal abnormality, Respiratory failure, Rhabdomyolysis, Small for gestational age, Sudden death
MGE-RG1	NRXN1	0.383502742	0.006488868	Cell surface receptor	BrainSpLMD|9378;Eurexp|euxassay_005585|arm, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, leg, midbrain, neural retina, olfactory, oral epithelium, respiratory, spinal cord, thoracic, trigeminal V, trunk mesenchyme, vagus X, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17956	SFARI||Autism, 2 - Strong candidate;OMIM|600565;HPO|9378|Autosomal recessive inheritance, Constipation, Drooling, Epileptic encephalopathy, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Hyperventilation, Intellectual disability, severe, Protruding tongue, Pulmonic stenosis, Scoliosis, Strabismus, Wide mouth
MGE-RG1	KIAA1683	1.330258996	0.006651983			
MGE-RG1	TOX3	0.824228167	0.006726739	Unclassified	Eurexp|euxassay_006138|cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, pancreas, paraxial mesenchyme, penis, retina, stomach, stroma, tongue, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|89252	OMIM|611416
MGE-RG1	STRN3	0.407271506	0.006789474	Calcium binding protein	BrainSpLMD|29966	OMIM|614766
MGE-RG1	ADNP2	0.807836767	0.006832302	DNA binding protein	BrainSpLMD|22850;BrainSpMouseDev|88720	OMIM|617422
MGE-RG1	GLUL	0.673373268	0.006942994	Enzyme: Aminotransferase	BrainSpLMD|2752;BrainSpMouseDev|14421	OMIM|138290;HPO|2752|Apnea, Autosomal recessive inheritance, Bradycardia, Brain atrophy, CNS hypomyelination, Depressed nasal bridge, Encephalopathy, Generalized hypotonia, Hyperammonemia, Hyperreflexia, Hypoplasia of the corpus callosum, Low-set ears, Periventricular cysts, Respiratory insufficiency, Seizures, Severe global developmental delay, Skin rash, Subependymal cysts, Ventriculomegaly, Wide nasal bridge
MGE-RG1	CUL3	0.286716634	0.007001064	Ubiquitin proteasome system protein	BrainSpLMD|8452	SFARI||Autism, 1 - High confidence;OMIM|603136;COSMIC||lung cancer;HPO|8452|Autosomal dominant inheritance, Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia, Hypertension, Metabolic acidosis, Pseudohypoaldosteronism
MGE-RG1	MNS1	0.977213871	0.007121279	Structural protein	BrainSpLMD|55329	OMIM|610766
MGE-RG1	MGRN1	1.241938082	0.007121352	Ubiquitin proteasome system protein	BrainSpLMD|23295;Eurexp|euxassay_007472|embryo	OMIM|607559
MGE-RG1	H1F0	0.730528893	0.007422905	DNA binding protein	BrainSpLMD|3005;Eurexp|euxassay_006503|embryo	OMIM|142708
MGE-RG1	RP11.351I24.3	0.951288462	0.007440287			
MGE-RG1	GTF2IRD2	1.068834787	0.007651562	Transcription factor	BrainSpLMD|84163	OMIM|608899
MGE-RG1	FKBP9	0.360830084	0.007691136	Chaperone	BrainSpLMD|11328;Eurexp|euxassay_007465|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, incisor, mandible, maxilla, mesenchyme, metatarsus, nasal septum, nucleus pulposus, orbito-sphenoid, otic capsule, phalanx, radius, rib, sternum, temporal bone, thyroid, tibia, turbinate, ulna, vault of skull	OMIM|616257;COSMIC||glioma
MGE-RG1	PDIA3	0.597358424	0.007782564	Enzyme: Isomerase		OMIM|602046
MGE-RG1	NMD3	0.885210915	0.0078339	Unclassified	BrainSpLMD|51068	OMIM|611021
MGE-RG1	MB21D2	0.880119004	0.007841825	Unclassified	BrainSpLMD|151963	COSMIC||lung cancer
MGE-RG1	MEST	0.941632149	0.007905506	Enzyme: Hydrolase	BrainSpLMD|4232;Eurexp|euxassay_003445|atrium, ventricle;BrainSpMouseDev|17063	OMIM|601029
MGE-RG1	OSTC	0.909352821	0.007991871	Integral membrane protein	BrainSpLMD|58505;Eurexp|euxassay_003969|Meckel's cartilage, clavicle, cranium, rib, turbinate	
MGE-RG1	FILIP1L	1.215197999	0.008050486	Unclassified	BrainSpLMD|11259	OMIM|612993
MGE-RG1	NCAM2	1.104513972	0.0080585	Adhesion molecule	BrainSpLMD|4685;BrainSpMouseDev|17735	OMIM|602040
MGE-RG1	TUFT1	0.86490586	0.008287661	Extracellular matrix protein	BrainSpLMD|7286;Eurexp|euxassay_015745|incisor, laryngeal, molar, olfactory, oral epithelium, vibrissa	OMIM|600087
MGE-RG1	HIF3A	0.612305802	0.008368027	Transcription factor	BrainSpLMD|64344;BrainSpMouseDev|32897	OMIM|609976
MGE-RG1	FKBP14	1.590064996	0.008541639	Enzyme: Isomerase	BrainSpLMD|55033;Eurexp|euxassay_003765|Meckel's cartilage, basisphenoid bone, clavicle, incisor, molar, orbito-sphenoid, rib, turbinate	OMIM|614505;HPO|55033|Atrophic scars, Autosomal recessive inheritance, Bruising susceptibility, Easy fatigability, Elevated serum creatine phosphokinase, Follicular hyperkeratosis, Hernia, High-frequency sensorineural hearing impairment, Hyperextensible skin, Joint hypermobility, Kyphoscoliosis, Motor delay, Muscular hypotonia, Myopathy, Myopia, Osteopenia, Pes planus, Phenotypic variability, Poor head control, Sensorineural hearing impairment, Severe muscular hypotonia, Skeletal muscle atrophy, Soft skin
MGE-RG1	HAUS5	1.047845825	0.008675218	Unclassified	BrainSpLMD|23354	OMIM|613432
MGE-RG1	RHOA	0.499034385	0.008718472	GTPase	BrainSpLMD|387;BrainSpMouseDev|11635	OMIM|165390;COSMIC||diffuse gastric, T cell lymphomas, paediatric Burkitt lymphoma
MGE-RG1	NR4A3	1.08087001	0.008823118	Nuclear receptor	BrainSpLMD|8013;Eurexp|euxassay_016920|floorplate, marginal layer;BrainSpMouseDev|17891	OMIM|600542;COSMIC||extraskeletal myxoid chondrosarcoma;HPO|8013|Chondrosarcoma, Somatic mutation
MGE-RG1	PSPH	1.598737298	0.008865584	Serine/threonine phosphatase	BrainSpLMD|5723;Eurexp|euxassay_007810|calyces, left, right, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|172480;HPO|5723|Autosomal recessive inheritance, Global developmental delay, Hypertonia, Infantile onset, Intellectual disability, Intrauterine growth retardation, Postnatal growth retardation, Seizures
MGE-RG1	YIF1A	1.210686123	0.008869111	Integral membrane protein	BrainSpLMD|10897	OMIM|611484
MGE-RG1	C11orf49	0.4354621	0.008950764	Unclassified	BrainSpLMD|79096	
MGE-RG1	RPL10A	0.287125536	0.008954668	Ribosomal subunit		OMIM|615660
MGE-RG1	ACAA2	0.672564654	0.009241614	Enzyme: Acyltransferase	BrainSpLMD|10449;Eurexp|euxassay_018546|bladder, choroid invagination, choroid plexus, epidermis, epithelium, liver, oral epithelium, roof plate, vibrissa	OMIM|604770
MGE-RG1	TCF7L2	1.312378757	0.009304585	Transcription factor	BrainSpLMD|6934;Eurexp|euxassay_019472|lip, mantle layer, mesenchyme, midgut, pancreas, phalanx, skeletal muscle, sternum, stomach, trachea, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|21177	SFARI||Autism, 3 - Suggestive evidence;OMIM|602228;COSMIC||colorectal
MGE-RG1	ABCA1	0.563779602	0.009496761	Transport/cargo protein	BrainSpLMD|19;Eurexp|euxassay_009354|brain, spinal cord, ventricular layer	OMIM|600046;HPO|19|Abdominal pain, Abnormality of the liver, Accelerated atherosclerosis, Anemia, Autosomal dominant inheritance, Autosomal recessive inheritance, Blurred vision, Chronic noninfectious lymphadenopathy, Corneal opacity, Coronary artery stenosis, Decreased circulating high-density lipoprotein levels, Distal amyotrophy, Distal muscle weakness, Dry skin, EMG abnormality, Ectropion, Facial diplegia, Hemiplegia/hemiparesis, Hepatomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Hyporeflexia, Impaired pain sensation, Impaired temperature sensation, Left ventricular hypertrophy, Lymphadenopathy, Myocardial infarction, Nail dysplasia, Nail dystrophy, Opacification of the corneal stroma, Orange discoloured tonsils, Peripheral axonal neuropathy, Peripheral demyelination, Progressive peripheral neuropathy, Splenomegaly, Visual impairment, Xanthomatosis
MGE-RG1	CTA.29F11.1	0.902952228	0.009530571			
MGE-RG1	DRG1	0.814281483	0.009831865	Unclassified	BrainSpLMD|4733;Eurexp|euxassay_019652|adrenal gland, dorsal root ganglion, liver, metanephros, testis, thymus primordium, ventricular layer, vibrissa;BrainSpMouseDev|13273	OMIM|603952
MGE-RG1	CD81	0.633217693	0.009861364	Enzyme: Oxidase	BrainSpLMD|975;Eurexp|euxassay_012630|choroid plexus, mantle layer, stomach, ventral grey horn, ventricular layer	OMIM|186845;HPO|975|Anal atresia, Autoimmune thrombocytopenia, Autosomal recessive inheritance, Brachycephaly, Bronchiectasis, Chronic otitis media, Decreased antibody level in blood, Elevated hepatic transaminases, Hemolytic anemia, Immunodeficiency, Lymphadenopathy, Lymphopenia, Pneumonia, Purpura, Recurrent bacterial infections, Recurrent bronchitis, Recurrent respiratory infections, Splenomegaly
MGE-RG1	APOOL	0.500021164	0.00987575	Unclassified	BrainSpLMD|139322	OMIM|300955
MGE-RG2	VEPH1	2.627340383	0	Unclassified	BrainSpLMD|79674	OMIM|609594
MGE-RG2	ILDR2	2.540860924	0	Immunoglobulin	BrainSpLMD|387597	
MGE-RG2	MCM4	2.247629917	0	DNA binding protein	BrainSpLMD|4173	SFARI||Autism, 4 - Minimal evidence;OMIM|602638;HPO|4173|Adrenal insufficiency, Autosomal recessive inheritance, Global developmental delay, Hepatomegaly, Intrauterine growth retardation, Lymphadenopathy, Lymphoproliferative disorder, Microcephaly, Postnatal growth retardation, Recurrent respiratory infections, Recurrent viral infections, Splenomegaly
MGE-RG2	RP11.714G18.1	2.157108238	0			
MGE-RG2	MCM3	2.126775173	0	DNA binding protein	BrainSpLMD|4172;Eurexp|euxassay_001694|marginal layer, ventricular layer	OMIM|602693
MGE-RG2	CDK6	2.015788275	0	Cell cycle control protein	BrainSpLMD|1021	OMIM|603368;COSMIC||ALL;HPO|1021|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Cortical gyral simplification, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-RG2	WWTR1	1.979979979	0	Transcription regulatory protein	BrainSpLMD|25937;Eurexp|euxassay_000592|limb, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|61234	OMIM|607392;COSMIC||epithelioid haemangioendothelioma
MGE-RG2	UHRF1	1.942385246	0	DNA binding protein	BrainSpLMD|29128	OMIM|607990
MGE-RG2	DHRS3	1.776264261	0	Enzyme: Dehydrogenase	BrainSpLMD|9249;Eurexp|euxassay_011877|epithelium, fundus region, sublingual gland primordium, urethra, ventricular layer	OMIM|612830
MGE-RG2	TFDP2	1.727736029	0	Transcription factor	BrainSpLMD|7029;Eurexp|euxassay_009223|liver, marginal layer, nasal capsule, neural retina, olfactory, ventricular layer;BrainSpMouseDev|84320	OMIM|602160
MGE-RG2	NKX2.1	1.653648009	0			
MGE-RG2	SOX2.OT	1.423977332	0			
MGE-RG2	SOX2	1.267802158	0	Transcription factor	Eurexp|euxassay_019525|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lung, mantle layer, medulla, midgut, neural retina, oesophagus, olfactory, oral epithelium, pituitary, saccule, stomach, testis, trachea, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|20436	OMIM|184429;COSMIC||NSCLC, oesophageal squamous carcinoma, Microphthalmia and oesophageal atresia syndrome;HPO|6657|Agenesis of corpus callosum, Anophthalmia, Anterior pituitary hypoplasia, Autosomal dominant inheritance, Butterfly vertebrae, Cleft palate, Coloboma, Cryptorchidism, Esophageal atresia, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hemivertebrae, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypospadias, Hypothalamic hamartoma, Microcephaly, Micropenis, Microphthalmia, Missing ribs, Nystagmus, Optic nerve hypoplasia, Patent ductus arteriosus, Postnatal growth retardation, Rib fusion, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Short stature, Spastic diplegia, Spastic tetraplegia, Specific learning disability, Strabismus, Supernumerary ribs, Tracheoesophageal fistula, Ventricular septal defect, Vertebral fusion, Vertebral hypoplasia, Visual impairment, Visual loss
MGE-RG2	CKB	1.260062798	0	Enzyme: Phosphotransferase	BrainSpLMD|1152;Eurexp|euxassay_011493|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lung, mandible, mantle layer, maxilla, midgut, neural retina, oesophagus, olfactory, rectum, sternum, stomach, trigeminal V, ventral grey horn, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ, wall	OMIM|123280
MGE-RG2	HMGN2P5	1.095891026	0			
MGE-RG2	ANP32E	1.079102663	0	Unclassified	BrainSpLMD|81611	OMIM|609611
MGE-RG2	RPLP0	1.026377116	0	Ribosomal subunit	BrainSpLMD|6175	OMIM|180510
MGE-RG2	RPLP0P6	0.985524834	0			
MGE-RG2	HMGN2	0.955771118	0	Transcription regulatory protein	BrainSpLMD|3151;Eurexp|euxassay_007442|embryo;BrainSpMouseDev|15106	OMIM|163910
MGE-RG2	CTB.63M22.1	0.939941587	0			
MGE-RG2	EEF1A1	0.566231039	0	Transcription regulatory protein	BrainSpLMD|1915	OMIM|130590
MGE-RG2	CCND2	1.58545409	1.11E-16	Cell cycle control protein	BrainSpLMD|894	OMIM|123833;COSMIC||NHL, CLL;HPO|894|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Congenital onset, Depressed nasal bridge, Global developmental delay, High forehead, Hydrocephalus, Hypertelorism, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Prominent forehead, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
MGE-RG2	RPLP1	0.677306824	1.11E-16	Ribosomal subunit		OMIM|180520
MGE-RG2	NPM1	0.916397101	3.33E-16	Chaperone	BrainSpLMD|4869;Eurexp|euxassay_005708|embryo	OMIM|164040;COSMIC||NHL, APL, AML
MGE-RG2	TOX3	1.551086136	4.44E-16	Unclassified	Eurexp|euxassay_006138|cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, pancreas, paraxial mesenchyme, penis, retina, stomach, stroma, tongue, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|89252	OMIM|611416
MGE-RG2	NES	1.65860736	5.55E-16	Cytoskeletal protein	BrainSpLMD|10763;Eurexp|euxassay_017860|calyces, diaphragm, head mesenchyme, meninges, mesenchyme, skeletal muscle, tongue, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|17775	OMIM|600915
MGE-RG2	HMGB2	0.950415262	7.77E-16	Transcription regulatory protein	BrainSpLMD|3148;Eurexp|euxassay_019251|incisor, lobe, lung, marginal layer, metanephros, molar, neural retina, oesophagus, pancreas, pituitary, submandibular gland primordium, thymus primordium, thyroid, trachea, turbinate bones, valve, ventricle, ventricular layer, vertebral axis muscle system	OMIM|163906
MGE-RG2	LIPG	1.670868687	1.22E-15	Enzyme: Lipase	BrainSpLMD|9388;Eurexp|euxassay_018714|4th ventricle, incisor, larynx, lung, metanephros, midgut, molar, naris, nasal septum, olfactory, rectum, respiratory, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|603684
MGE-RG2	LMO1	2.083816059	1.78E-15	Transcription factor	BrainSpLMD|4004;BrainSpMouseDev|73752	OMIM|186921;COSMIC||T-ALL, neuroblastoma, neuroblastoma;HPO|4004|Elevated urinary catecholamines, Neoplasm of the nervous system
MGE-RG2	HELLS	1.488109311	3.66E-15	DNA binding protein	BrainSpLMD|3070	OMIM|603946;HPO|3070|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Congenital onset, Decreased antibody level in blood, Depressed nasal bridge, Epicanthus, Global developmental delay, Hypertelorism, Intellectual disability, Lymphopenia, Macrocephaly, Malabsorption, Micrognathia, Recurrent infections, Recurrent respiratory infections, Short stature
MGE-RG2	CENPU	1.527126909	4.11E-15	Unclassified	BrainSpLMD|79682	OMIM|611511
MGE-RG2	RPS3AP47	2.031951391	4.66E-15			
MGE-RG2	HMGN2P3	0.852280323	6.99E-15			
MGE-RG2	EEF1A1P5	0.538899418	7.11E-15			
MGE-RG2	RPS14	0.669975708	1.12E-14	Ribosomal subunit	BrainSpLMD|6208	OMIM|130620;HPO|6208|Abnormality of cells of the megakaryocyte lineage, Autosomal dominant contiguous gene syndrome, Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Somatic mutation, Sporadic
MGE-RG2	NPM1P27	0.859774404	2.50E-14			
MGE-RG2	GAPDH	0.744582238	2.60E-14	Enzyme: Dehydrogenase		OMIM|138400
MGE-RG2	HMGB1	0.671236424	6.01E-14	DNA binding protein	BrainSpMouseDev|15064	OMIM|163905
MGE-RG2	MGST1	2.000144383	7.45E-14	Enzyme: Glutathione transferase	BrainSpLMD|4257;Eurexp|euxassay_002928|adrenal gland, anal canal, axial muscle, bladder, calyces, ductus deferens, epidermis, foregut-midgut junction, head mesenchyme, hindgut, left lung, limb, lobe, marginal layer, midgut, naris, nasal capsule, nucleus pulposus, oesophagus, olfactory, pancreas, pelvis, pituitary, rectum, right lung, stomach, submandibular gland primordium, trachea, urethra, ventricular layer, vibrissa	OMIM|138330
MGE-RG2	HAT1	1.338617661	7.98E-14	Enzyme: Acyltransferase	BrainSpLMD|8520;Eurexp|euxassay_015562|brain, cerebral cortex, diencephalon, forebrain, hindbrain, liver, lung, medullary region, midbrain, optic II, optic stalk, telencephalon, testis, thymus primordium	OMIM|603053
MGE-RG2	GINS2	1.748716392	8.15E-14	Unclassified	BrainSpLMD|51659	OMIM|610609
MGE-RG2	RPS6	0.709477049	1.00E-13	Ribosomal subunit	BrainSpLMD|6194	OMIM|180460
MGE-RG2	HMGB1P5	0.428210101	1.31E-13			
MGE-RG2	KIAA0101	1.36662671	1.79E-13			
MGE-RG2	RORB	1.658062414	2.13E-13	Transcription factor	BrainSpLMD|6096;Eurexp|euxassay_002725|diencephalon, dorsal grey horn, hindbrain, marginal layer, midbrain, neural retina, ventricular layer;BrainSpMouseDev|86335	OMIM|601972
MGE-RG2	MCM7	1.395858512	2.77E-13	Unclassified;DNA helicase	BrainSpLMD|4176;Eurexp|euxassay_018019|embryo	OMIM|600592
MGE-RG2	STK39	1.656440716	4.78E-13	Serine/threonine kinase	BrainSpLMD|27347	SFARI||Autism, 4 - Minimal evidence;OMIM|607648
MGE-RG2	FZD5	2.165989806	5.07E-13	G protein coupled receptor	BrainSpLMD|7855;BrainSpMouseDev|14143	OMIM|601723
MGE-RG2	NNAT	1.419448512	5.16E-13	Regulatory/other subunit	BrainSpLMD|4826;Eurexp|euxassay_007364|brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, mesenchyme, mesothelium, midgut, neural retina, oesophagus, olfactory, paraxial mesenchyme, pericardial cavity, peritoneal cavity, right lung, skeletal muscle, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|17878	OMIM|603106
MGE-RG2	CREB5	1.023921201	7.47E-13	Transcription factor	BrainSpLMD|9586;Eurexp|euxassay_016386|axial skeleton, oral epithelium	
MGE-RG2	TUBA1B	0.726133186	1.17E-12	Structural protein	BrainSpLMD|10376	OMIM|602530
MGE-RG2	DTL	1.849923125	1.24E-12	Unclassified	BrainSpLMD|51514;Eurexp|euxassay_012578|choroid plexus, ventricular layer	OMIM|610617
MGE-RG2	RPL18A	0.687219656	1.35E-12	RNA binding protein		OMIM|604178
MGE-RG2	NUSAP1	0.754105704	1.87E-12	Cell cycle control protein	BrainSpLMD|51203	OMIM|612818
MGE-RG2	RPS19	0.54546516	2.65E-12	Ribosomal subunit	BrainSpLMD|6223	OMIM|603474;HPO|6223|11 pairs of ribs, Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Absent thumb, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Bifid thoracic vertebrae, Cleft palate, Cleft upper lip, Coarctation of aorta, Colon cancer, Congenital hypoplastic anemia, Congestive heart failure, Delayed cranial suture closure, Delayed puberty, Depressed nasal ridge, Downslanted palpebral fissures, Elevated red cell adenosine deaminase activity, Failure to thrive, Fatigue, High palate, Hypertelorism, Hypoplasia of the radius, Hypoplastic coccygeal vertebrae, Hypoplastic ilia, Hypoplastic sacral vertebrae, Infantile onset, Intrauterine growth retardation, Macrocytic anemia, Microcephaly, Micrognathia, Migraine, Myelodysplasia, Narrow chest, Neutropenia, Osteosarcoma, Pallor, Parietal foramina, Partial duplication of thumb phalanx, Premature birth, Reticulocytopenia, Retrognathia, Short neck, Short stature, Short thumb, Strabismus, Thrombocytopenia, Thrombocytosis, Triphalangeal thumb, Ventricular septal defect, Webbed neck
MGE-RG2	RPS27A	0.709835987	3.39E-12	Ubiquitin proteasome system protein		OMIM|191343
MGE-RG2	TRIM59	0.742857916	4.56E-12	Ubiquitin proteasome system protein		OMIM|616148
MGE-RG2	CHEK1	1.477674429	4.87E-12	Serine/threonine kinase	BrainSpLMD|1111	OMIM|603078
MGE-RG2	LRP2BP	1.715841017	6.13E-12	Adapter molecule	BrainSpLMD|55805	SFARI||Autism, No category
MGE-RG2	RPL3P2	0.386857521	6.30E-12			
MGE-RG2	ZFP36L1	0.746741127	8.99E-12	Transcription factor	BrainSpLMD|677;Eurexp|euxassay_007310|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|11978	OMIM|601064
MGE-RG2	PROM1	1.972779969	9.61E-12	Integral membrane protein	BrainSpLMD|8842;BrainSpMouseDev|18889	OMIM|604365;HPO|8842|Abnormal electroretinogram, Abnormality of color vision, Abnormality of macular pigmentation, Abnormality of retinal pigmentation, Abnormality of the choroid, Abnormality of the fovea, Abnormality of the retinal vasculature, Abnormality of the testis, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the macula, Atypical scarring of skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cataract, Central scotoma, Conductive hearing impairment, Cone/cone-rod dystrophy, Dyschromatopsia, Glaucoma, Granular macular appearance, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Macular degeneration, Macular dystrophy, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paroxysmal involuntary eye movements, Perifoveal ring of hyperautofluorescence, Peripheral visual field loss, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Retinal thinning, Rod-cone dystrophy, Sensorineural hearing impairment, Undetectable electroretinogram, Wide nasal bridge, Yellow/white lesions of the macula
MGE-RG2	EEF1D	0.974943003	1.34E-11	Guanine nucleotide exchange factor	BrainSpLMD|1936	OMIM|130592
MGE-RG2	NTN4	1.911261766	1.56E-11	Extracellular matrix protein	BrainSpLMD|59277;Eurexp|euxassay_007631|valve, ventricular layer;BrainSpMouseDev|37036	OMIM|610401
MGE-RG2	RPL21P28	1.004856283	1.85E-11			
MGE-RG2	ALYREF	1.227351313	2.32E-11	Chaperone	BrainSpLMD|10189	OMIM|604171
MGE-RG2	KNTC1	1.606907686	2.42E-11	Cell cycle control protein	BrainSpLMD|9735;Eurexp|euxassay_011295|ventricular layer	OMIM|607363
MGE-RG2	LRP2	3.296811717	2.68E-11	Cell surface receptor	BrainSpLMD|4036;Eurexp|euxassay_013970|calyces, cochlea, olfactory, utricle, ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|600073;HPO|4036|Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Broad forehead, Broad nasal tip, Congenital diaphragmatic hernia, Depressed nasal bridge, Downslanted palpebral fissures, Global developmental delay, Hypertelorism, Infra-orbital crease, Intellectual disability, Low-set ears, Macrocephaly, Malar flattening, Midface retrusion, Myopia, Omphalocele, Partial agenesis of the corpus callosum, Posteriorly rotated ears, Progressive visual loss, Proptosis, Proteinuria, Retinal detachment, Retinal dystrophy, Sensorineural hearing impairment, Short nose, Umbilical hernia, Wide anterior fontanel, Widow's peak
MGE-RG2	MSI2	0.922461006	2.95E-11	RNA binding protein	BrainSpLMD|124540	OMIM|607897;COSMIC||CML
MGE-RG2	RPL7P9	0.592199722	3.02E-11			
MGE-RG2	AK4	1.772291124	3.30E-11	Enzyme: Phosphotransferase	BrainSpLMD|205;Eurexp|euxassay_010883|clavicle, hindgut, incisor, midgut, molar, olfactory, rectum, stomach	OMIM|103030
MGE-RG2	MCM5	1.999189253	3.39E-11	DNA binding protein	BrainSpLMD|4174	OMIM|602696
MGE-RG2	RBL1	1.434835983	4.07E-11	Cell cycle control protein	BrainSpLMD|5933	OMIM|116957
MGE-RG2	MMS22L	1.288273328	4.73E-11	Unclassified	BrainSpLMD|253714	OMIM|615614
MGE-RG2	CTC.575D19.1	1.009095361	4.91E-11			
MGE-RG2	ANXA5	1.079768727	7.51E-11	Calcium binding protein	BrainSpLMD|308;Eurexp|euxassay_002158|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, meninges, renal/urinary system, reproductive system, respiratory system, tail	OMIM|131230
MGE-RG2	GLCCI1	0.99227096	8.61E-11	Unclassified	BrainSpLMD|113263;Eurexp|euxassay_014439|axial skeleton, nasal septum, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|82074	OMIM|614283
MGE-RG2	PAICS	1.319282212	8.87E-11	Enzyme: Carboxylase	BrainSpLMD|10606;Eurexp|euxassay_018936|marginal layer, nucleus pulposus, submandibular gland primordium, ventricular layer, vibrissa	OMIM|172439
MGE-RG2	GPR98	1.111060449	1.06E-10			
MGE-RG2	BARD1	1.246571816	1.06E-10	Transcription regulatory protein	BrainSpLMD|580	OMIM|601593;COSMIC||breast cancer, ovarian cancer, breast cancer, endometrioid cancer;HPO|580|Abnormality of the fallopian tube, Breast carcinoma, Ovarian neoplasm, Primary peritoneal carcinoma
MGE-RG2	RPL41	0.414921277	1.19E-10	Unclassified	BrainSpLMD|6171	OMIM|613315
MGE-RG2	RP11.572P18.1	0.401615795	1.21E-10			
MGE-RG2	IL33	1.858594559	1.47E-10	Unclassified	Eurexp|euxassay_011591|capsule, cortex, endolymphatic duct, lip, mesentery, midgut, olfactory, skeletal muscle, utricle	OMIM|608678
MGE-RG2	DDAH1	0.977473606	1.58E-10	Enzyme: Hydrolase	BrainSpLMD|23576;Eurexp|euxassay_003952|mantle layer, ventral grey horn, ventricular layer	OMIM|604743
MGE-RG2	RPL3P4	0.737672007	1.83E-10			
MGE-RG2	CLSPN	1.344811212	2.35E-10	Cell cycle control protein	BrainSpLMD|63967;Eurexp|euxassay_004199|ventricular layer	OMIM|605434
MGE-RG2	NAP1L1	0.806315719	2.44E-10	Transcription regulatory protein	BrainSpLMD|4673;Eurexp|euxassay_005511|nucleus pulposus	OMIM|164060
MGE-RG2	PCNA	1.468152864	2.78E-10	Cell cycle control protein	BrainSpLMD|5111;Eurexp|euxassay_005732|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, spinal cord, ventricular layer	OMIM|176740;HPO|5111|Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Conjunctival telangiectasia, Cutaneous photosensitivity, Dysarthria, Dysphagia, Global developmental delay, Muscle weakness, Neurodegeneration, Pes cavus, Photophobia, Progressive, Progressive muscle weakness, Short stature, Unsteady gait
MGE-RG2	RP11.673C5.1	0.396123282	3.44E-10			
MGE-RG2	CTD.2192J16.15	0.696556126	4.33E-10			
MGE-RG2	CDCA7	1.323416069	4.87E-10	Cell cycle control protein	BrainSpLMD|83879	OMIM|609937;HPO|83879|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Conductive hearing impairment, Cryptorchidism, Decreased antibody level in blood, Depressed nasal bridge, Flat face, Global developmental delay, Hypertelorism, Hypoplastic ischia, Hypospadias, Intellectual disability, Intrauterine growth retardation, Low-set ears, Lymphopenia, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Polydactyly, Recurrent respiratory infections, Short nose, Short stature, Strabismus
MGE-RG2	C19orf48	1.315851281	4.93E-10	Unclassified	BrainSpLMD|84798	
MGE-RG2	TLK1	0.40215728	5.99E-10	Serine/threonine kinase	BrainSpLMD|9874	OMIM|608438
MGE-RG2	ZBTB20	0.700388245	8.07E-10	Transcription factor	BrainSpLMD|26137;BrainSpMouseDev|35770	SFARI||Autism, 3 - Suggestive evidence;OMIM|606025;HPO|26137|Abnormality of the palate, Absent axillary hair, Absent facial hair, Anemia, Anonychia, Autosomal dominant inheritance, Basilar impression, Bilateral cryptorchidism, Bone cyst, Brachycephaly, Broad forehead, Calcification of the auricular cartilage, Cataract, Conductive hearing impairment, Deeply set eye, Developmental regression, Distal amyotrophy, Downslanted palpebral fissures, Downturned corners of mouth, Gait disturbance, Generalized hypotonia, Generalized osteoporosis, Genu valgum, Gynecomastia, Hearing impairment, Hip contracture, Hydrocephalus, Hypogonadism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Increased size of the mandible, Intellectual disability, Irregular vertebral endplates, Knee flexion contracture, Kyphosis, Macrocephaly, Macrotia, Malar flattening, Metatarsus adductus, Midface retrusion, Myopathy, Narrow chest, Narrow iliac wings, Narrow mouth, Neurodegeneration, Osteolysis, Pectus excavatum, Pes cavus, Plagiocephaly, Posterior polar cataract, Posterior scalloping of vertebral bodies, Ptosis, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Sparse scalp hair, Sporadic, Superiorly displaced ears, Synophrys, Thick lower lip vermilion, Truncal obesity
MGE-RG2	RPL7P23	0.531266636	1.08E-09			
MGE-RG2	SFRP1	0.709882649	1.08E-09	Secreted polypeptide	BrainSpLMD|6422;BrainSpMouseDev|20140	OMIM|604156
MGE-RG2	RPL18AP3	0.548115102	1.13E-09			
MGE-RG2	RPL3	0.782995176	1.25E-09	Ribosomal subunit		OMIM|604163
MGE-RG2	LIMD1	2.073794067	1.28E-09	Transcription regulatory protein	BrainSpLMD|8994	OMIM|604543
MGE-RG2	SIX3	0.59850836	1.38E-09	Transcription factor	BrainSpLMD|6496;Eurexp|euxassay_019625|corpus striatum, dorsal root ganglion, mantle layer, neural retina, olfactory, pituitary, trigeminal V, ventral grey horn, ventricular layer, vomeronasal organ;BrainSpMouseDev|20235	OMIM|603714;HPO|6496|Absent nasal septal cartilage, Adrenal hypoplasia, Agenesis of corpus callosum, Anterior pituitary agenesis, Aplasia of the nose, Autosomal dominant inheritance, Bifid uvula, Cerebellar hypoplasia, Constipation, Cyclopia, Diabetes insipidus, Generalized hypotonia, Global developmental delay, Heterogeneous, Holoprosencephaly, Hypotelorism, Incomplete penetrance, Intellectual disability, Malar flattening, Median cleft lip and palate, Microcephaly, Microphthalmia, Midface retrusion, Schizencephaly, Scoliosis, Seizures, Single median maxillary incisor, Sporadic, Submucous cleft hard palate, Variable expressivity
MGE-RG2	RPL15P3	0.465841417	1.63E-09			
MGE-RG2	CHD7	0.531342828	2.46E-09	DNA binding protein	Eurexp|euxassay_010758|marginal layer, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|608892;HPO|55636|Abnormality of body height, Abnormality of female internal genitalia, Abnormality of lymphocytes, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Alopecia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bifid scrotum, Breast hypoplasia, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Desquamation of skin soon after birth, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysphagia, Edema, Eosinophilia, Erectile abnormalities, Erythroderma, Esophageal atresia, Eunuchoid habitus, External ear malformation, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Female hypogonadism, Fever, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Hepatomegaly, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphopenia, Malar flattening, Male hypogonadism, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Non-obstructive azoospermia, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Pneumonia, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Secondary amenorrhea, Sensorineural hearing impairment, Severe combined immunodeficiency, Sparse body hair, Splenomegaly, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Thickened skin, Tracheoesophageal fistula, Umbilical hernia, Ventricular septal defect, Wide intermamillary distance
MGE-RG2	OLIG2	1.254521788	2.64E-09	Transcription factor	BrainSpLMD|10215;Eurexp|euxassay_007187|basal plate, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|30397	OMIM|606386;COSMIC||T-ALL
MGE-RG2	HNRNPF	1.076287346	2.94E-09	Ribonucleoprotein	BrainSpLMD|3185	OMIM|601037
MGE-RG2	EMP2	1.708063503	3.12E-09	Cell cycle control protein	BrainSpLMD|2013;Eurexp|euxassay_013721|bladder, epithelium, incisor, larynx, left lung, mantle layer, marginal layer, midgut, molar, pharyngo-tympanic tube, rectum, right lung, skeletal muscle, stomach, thymus primordium, trachea, urethra, ventricular layer, vibrissa	OMIM|602334;HPO|2013|Autosomal recessive inheritance, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome
MGE-RG2	RP11.69L16.5	0.579333813	3.27E-09			
MGE-RG2	PRPS2	1.524296528	3.50E-09	Enzyme: Ligase	BrainSpLMD|5634	OMIM|311860
MGE-RG2	RPL21	0.574272906	3.79E-09	Ribosomal subunit		OMIM|603636;HPO|6144|Alopecia, Aplasia/Hypoplasia of the eyebrow, Autosomal dominant inheritance, Hypotrichosis, Hypotrichosis of the scalp, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Sparse or absent eyelashes
MGE-RG2	NPM1P39	0.372963574	4.45E-09			
MGE-RG2	RPS27	0.399162307	5.00E-09	Ribosomal subunit		OMIM|603702;HPO|6232|Abnormality of skin pigmentation, Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Anemia, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Macrocytic anemia, Migraine, Pallor
MGE-RG2	BRCA1	1.605473149	5.24E-09	Transcription regulatory protein	BrainSpLMD|672;Eurexp|euxassay_019531|incisor, liver, lung, marginal layer, metanephros, molar, olfactory, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|11975	OMIM|113705;COSMIC||ovarian, breast, ovarian;HPO|672|Abdominal distention, Abdominal pain, Abnormality of the fallopian tube, Autosomal dominant inheritance, Breast carcinoma, Constipation, Heterogeneous, Nausea and vomiting, Neoplasm, Ovarian neoplasm, Peritonitis, Primary peritoneal carcinoma
MGE-RG2	RP11.51O6.1	0.655612634	5.37E-09			
MGE-RG2	RPL7P1	0.586435966	5.93E-09			
MGE-RG2	RPL21P75	0.443079571	7.12E-09			
MGE-RG2	RPL10	0.518342356	7.21E-09	Ribosomal subunit	BrainSpLMD|6134;Eurexp|euxassay_015677|embryo	SFARI||Autism, 4 - Minimal evidence;OMIM|312173;COSMIC||T-ALL;HPO|6134|Abnormal facial shape, Ankle contracture, Branchial cyst, Camptodactyly, Cryptorchidism, Dental crowding, Finger syndactyly, Gastroesophageal reflux, Hypospadias, Knee flexion contracture, Laryngomalacia, Mandibular prognathia, Microcephaly, Muscular hypotonia, Protruding ear, Pulmonary artery stenosis, Recurrent infections, Sacral lipoma, Seizures, Self-injurious behavior, Sensorineural hearing impairment, Severe postnatal growth retardation, Single transverse palmar crease, Tapered finger, Thin upper lip vermilion
MGE-RG2	RPS28	0.412265519	7.64E-09	Ribosomal subunit		OMIM|603685;HPO|6234|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Broad neck, Cleft palate, Congenital diaphragmatic hernia, Delayed puberty, Downslanted palpebral fissures, Epicanthus, Fatigue, Feeding difficulties, Global developmental delay, Infantile onset, Macrocytic anemia, Micrognathia, Microtia, Midface retrusion, Migraine, Mixed hearing impairment, Pallor, Posteriorly rotated ears, Respiratory distress, Short stature, Sparse and thin eyebrow
MGE-RG2	TCF7L1	1.653902212	8.20E-09	Transcription regulatory protein	BrainSpLMD|83439;BrainSpMouseDev|21176	OMIM|604652
MGE-RG2	EGFR	1.595837755	1.21E-08	Receptor tyrosine kinase	BrainSpLMD|1956;Eurexp|euxassay_002564|axial skeleton, cervical region, diaphragm, epidermis, intermediate grey horn, lumbar region, mandible, mantle layer, maxilla, mesenchyme, nasal septum, phalanx, pharyngo-tympanic tube, primary palate, rib, sacral region, thoracic region, trachea, turbinate bones, upper arm, ventricular layer, vibrissa;BrainSpMouseDev|13427	OMIM|131550;COSMIC||glioma, NSCLC, NSCLC;HPO|1956|Alveolar cell carcinoma, Autosomal recessive inheritance, Epidermal acanthosis, Failure to thrive, Hypertension, Long eyelashes, Papule, Pustule, Recurrent bronchiolitis, Recurrent pneumonia, Vomiting
MGE-RG2	SLC25A5	1.109331825	1.26E-08	Integral membrane protein		OMIM|300150
MGE-RG2	PPIA	0.645899116	1.30E-08	Enzyme: Isomerase	BrainSpLMD|5478	OMIM|123840
MGE-RG2	PTMA	0.584877401	1.32E-08	Unclassified	BrainSpLMD|5757	OMIM|188390
MGE-RG2	RPL15	0.281621368	1.48E-08	Ribosomal subunit	BrainSpLMD|6138	OMIM|604174;HPO|6138|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Elevated red cell adenosine deaminase activity, Fatigue, Macrocytic anemia, Migraine, Normochromic anemia, Pallor, Reticulocytopenia, Triphalangeal thumb, Ventricular septal defect
MGE-RG2	WDHD1	1.591452325	1.60E-08	DNA binding protein	BrainSpLMD|11169;Eurexp|euxassay_012406|submandibular gland primordium, thymus primordium, ventricular layer;BrainSpMouseDev|85441	OMIM|608126
MGE-RG2	SALL3	1.119203113	1.86E-08	DNA binding protein	BrainSpLMD|27164;Eurexp|euxassay_010911|cochlea, glomeruli, inner ear, lip, mantle layer, medulla oblongata, palatal shelf, penis, utricle, valve, ventricular layer;BrainSpMouseDev|20451	OMIM|605079
MGE-RG2	NASP	1.005302947	1.90E-08	Cell cycle control protein	BrainSpLMD|4678;Eurexp|euxassay_016401|marginal layer, metanephros, ventricular layer	OMIM|603185
MGE-RG2	HNRNPA1P4	0.764070914	2.07E-08			
MGE-RG2	SOX9	0.628112199	2.09E-08	Transcription factor	BrainSpLMD|6662;Eurexp|euxassay_002633|axial skeleton, basisphenoid bone, calyces, exoccipital bone, femur, lung, mesenchyme, naris, nasal septum, nucleus pulposus, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, pharyngo-tympanic tube, trachea, turbinate, ventricular layer, vibrissa;BrainSpMouseDev|20444	OMIM|608160;HPO|6662|11 pairs of ribs, Abnormal heart morphology, Abnormal scrotal rugation, Abnormal sex determination, Abnormality of male internal genitalia, Abnormality of the labia, Abnormality of the pharynx, Abnormality of the scrotum, Abnormality of the uterus, Absent sternal ossification, Ambiguous genitalia, Anterior tibial bowing, Apnea, Autosomal dominant inheritance, Azoospermia, Bifid scrotum, Blepharophimosis, Cleft palate, Clitoral hypertrophy, Cryptorchidism, Decreased fertility, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Depressed nasal bridge, Depressed nasal ridge, Disproportionate short-limb short stature, Dysgerminoma, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Failure to thrive, Female external genitalia in individual with 46,XY karyotype, Femoral bowing, Fibular hypoplasia, Flat face, Generalized hypotonia, Glossoptosis, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hearing impairment, High forehead, Hip dislocation, Hydrocephalus, Hydronephrosis, Hypergonadotropic hypogonadism, Hypertelorism, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the vagina, Hypoplastic cervical vertebrae, Hypoplastic iliac wing, Hypoplastic inferior ilia, Hypoplastic scapulae, Hypospadias, Kyphoscoliosis, Laryngomalacia, Low-set ears, Macrocephaly, Male hypogonadism, Male infertility, Male pseudohermaphroditism, Micrognathia, Micropenis, Narrow chest, Neonatal respiratory distress, Neonatal short-limb short stature, Osteoporosis, Polycystic ovaries, Polyhydramnios, Poorly ossified cervical vertebrae, Primary amenorrhea, Proptosis, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Scrotal hypoplasia, Sex reversal, Short neck, Short palpebral fissure, Short stature, Shortening of all phalanges of fingers, Shortening of all phalanges of the toes, Skin dimples, Small abnormally formed scapulae, Small face, Sparse axillary hair, Sparse pubic hair, Streak ovary, Talipes equinovarus, Testicular dysgenesis, Thin ribs, Thoracic hypoplasia, Tibial bowing, Tracheobronchomalacia, True hermaphroditism, Upper airway obstruction, Urogenital sinus anomaly, Vanishing testis, Wide anterior fontanel
MGE-RG2	LIX1	1.041098633	2.34E-08	Unclassified	BrainSpLMD|167410	OMIM|610466
MGE-RG2	SEMA5A	0.728899625	2.35E-08	Unclassified	BrainSpLMD|9037;BrainSpMouseDev|20119	SFARI||Autism, 3 - Suggestive evidence;OMIM|609297;HPO|9037|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
MGE-RG2	RPL5	0.609459918	2.39E-08	Ribosomal subunit	BrainSpLMD|6125	OMIM|603634;COSMIC||T-ALL, Diamond-Blackfan anaemia;HPO|6125|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Arrhythmia, Autosomal dominant inheritance, Bifid uvula, Cleft palate, Cleft upper lip, Delayed puberty, Failure to thrive, Fatigue, Growth delay, Hypertelorism, Increased mean corpuscular volume, Macrocytic anemia, Micrognathia, Migraine, Mitral regurgitation, Mitral valve prolapse, Pallor, Patent ductus arteriosus, Persistence of hemoglobin F, Short thumb, Tetralogy of Fallot, Tracheomalacia, Ventricular hypertrophy, Ventricular septal defect
MGE-RG2	LDHB	0.758419596	2.45E-08	Enzyme: Dehydrogenase	BrainSpLMD|3945	OMIM|150100
MGE-RG2	RPL7	0.5741195	2.63E-08	Ribosomal subunit		OMIM|604166
MGE-RG2	TP53	0.899736915	3.32E-08	Transcription factor	BrainSpLMD|7157;Eurexp|euxassay_017977|submandibular gland primordium, thymus primordium;BrainSpMouseDev|21816	OMIM|191170;COSMIC||breast, colorectal, lung, sarcoma, adrenocortical, glioma, Spitzoid tumour, multiple other tumour types, breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types;HPO|7157|Abnormal lactate dehydrogenase activity, Abnormal platelet morphology, Abnormality of metabolism/homeostasis, Abnormality of the fallopian tube, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphysis, Acute leukemia, Adrenocortical carcinoma, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast carcinoma, Chest pain, Choroid plexus papilloma, Colon cancer, Elevated alkaline phosphatase, Headache, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hydrocephalus, Increased megakaryocyte count, Joint swelling, Lung adenocarcinoma, Lymphoma, Micronodular cirrhosis, Myocardial infarction, Nausea, Neoplasia of the nasopharynx, Neoplasm of the adrenal cortex, Neoplasm of the colon, Neoplasm of the nervous system, Neoplasm of the pancreas, Neoplasm of the skin, Neoplasm of the stomach, Nephroblastoma, Osteolysis, Osteosarcoma, Ovarian neoplasm, Pain, Papilledema, Paresthesia, Polygenic inheritance, Primary peritoneal carcinoma, Progressive encephalopathy, Prolonged bleeding time, Prostate cancer, Prostate neoplasm, Renal cell carcinoma, Retinoblastoma, Seizures, Soft tissue sarcoma, Somatic mutation, Splenomegaly, Subacute progressive viral hepatitis, Transient ischemic attack, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Venous thrombosis, Vomiting
MGE-RG2	RPL4	0.750396416	3.72E-08	Ribosomal subunit	BrainSpLMD|6124	OMIM|180479
MGE-RG2	QKI	0.54353194	3.92E-08	RNA binding protein	BrainSpLMD|9444;Eurexp|euxassay_012259|diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, lens, lung, mandible, mantle layer, marginal layer, maxilla, meninges, midgut, neural retina, orbito-sphenoid, petrous part, skeletal muscle, stomach, submandibular gland primordium, turbinate, vault of skull, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|609590;COSMIC||angiocentric glioma, colorectal cancer
MGE-RG2	RPL3P7	0.602948459	4.61E-08			
MGE-RG2	GNG5	0.941134649	4.78E-08	G protein	BrainSpLMD|2787;Eurexp|euxassay_007798|embryo	OMIM|600874
MGE-RG2	UNG	1.392351848	4.80E-08	DNA binding protein;DNA repair protein	BrainSpLMD|7374;Eurexp|euxassay_006557|cortex, incisor, lung, marginal layer, midgut, molar, olfactory, pancreas, rectum, stomach, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|191525;HPO|7374|Autosomal recessive inheritance, Epididymitis, IgA deficiency, IgG deficiency, Immunodeficiency, Impaired Ig class switch recombination, Increased IgM level, Lymphadenopathy, Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections
MGE-RG2	SLC35F1	0.918701289	5.55E-08	Integral membrane protein	Eurexp|euxassay_019705|dorsal root ganglion, embryo, glossopharyngeal IX, intermediate grey horn, mantle layer, rest of cerebellum, trigeminal V, ventral grey horn, ventricular layer	
MGE-RG2	RFC3	1.592483171	5.93E-08	DNA binding protein	BrainSpLMD|5983;Eurexp|euxassay_010694|submandibular gland primordium, ventricular layer	OMIM|600405
MGE-RG2	DHFR	1.65197918	6.13E-08	Enzyme: Oxidoreductase		OMIM|126060;HPO|1719|Absence seizures, Ataxia, Autosomal recessive inheritance, Cerebral atrophy, Delayed myelination, Eyelid myoclonus, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hepatomegaly, Jaundice, Megaloblastic anemia, Pallor, Pancytopenia, Poor head control, Postnatal microcephaly, Thrombocytopenia, Variable expressivity
MGE-RG2	TMX1	1.221726694	6.98E-08	Enzyme: Oxidoreductase	BrainSpLMD|81542	OMIM|610527
MGE-RG2	HSPD1P1	0.639567785	7.30E-08			
MGE-RG2	SOAT1	1.471120494	7.96E-08	Enzyme: Acyltransferase	BrainSpLMD|6646;Eurexp|euxassay_004596|adrenal gland, calyces, loop, midgut, stomach, turbinate bones	OMIM|102642
MGE-RG2	CHAF1A	1.348798536	8.62E-08	Chaperone	BrainSpLMD|10036	OMIM|601246
MGE-RG2	GNB2L1	0.660475105	8.87E-08			
MGE-RG2	RPL23A	0.505526337	9.23E-08	RNA binding protein		OMIM|602326
MGE-RG2	RPL6P27	0.697500724	9.91E-08			
MGE-RG2	CBX5	0.694423286	1.02E-07	DNA binding protein	BrainSpLMD|23468	OMIM|604478
MGE-RG2	RPL4P4	0.483967095	1.06E-07			
MGE-RG2	FANCD2	0.877213059	1.08E-07	Cell cycle control protein	BrainSpLMD|2177	OMIM|613984;COSMIC||AML, leukaemia;HPO|2177|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of skin pigmentation, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anemia, Anemic pallor, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bruising susceptibility, Cafe-au-lait spot, Chromosomal breakage induced by crosslinking agents, Complete duplication of thumb phalanx, Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Duplicated collecting system, Ectopic kidney, Esophageal atresia, Global developmental delay, Hearing impairment, Horseshoe kidney, Hypergonadotropic hypogonadism, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukemia, Leukopenia, Microcephaly, Microphthalmia, Neutropenia, Pancytopenia, Prolonged G2 phase of cell cycle, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Reticulocytopenia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Small for gestational age, Strabismus, Thrombocytopenia, Tracheoesophageal fistula
MGE-RG2	WDR76	1.450227574	1.12E-07	Unclassified	BrainSpLMD|79968	
MGE-RG2	TIMELESS	1.436924112	1.12E-07	Transcription regulatory protein	BrainSpLMD|8914	OMIM|603887
MGE-RG2	CTD.2287O16.1	0.394730653	1.20E-07			
MGE-RG2	MIR4426	0.526823405	1.21E-07			
MGE-RG2	CKS2	0.470912593	1.35E-07	Cell cycle control protein	BrainSpLMD|1164	OMIM|116901
MGE-RG2	NOTCH1	1.592793204	1.48E-07	Cell surface receptor	BrainSpLMD|4851;Eurexp|euxassay_018738|cochlea, cornea, cortex, epidermis, epithelium, incisor, left lung, molar, olfactory, rest of skin, retina, right lung, submandibular gland primordium, thymus primordium, utricle, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|17895	OMIM|190198;COSMIC||T-ALL, breast, bladder, skin SCC, lung SCC, head and neck SCC;HPO|4851|Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis, Aplasia cutis congenita, Autosomal dominant inheritance, Bicuspid aortic valve, Brachydactyly, Calvarial skull defect, Cataract, Cavernous hemangioma, Coarctation of aorta, Cutis marmorata, Cutis marmorata telangiectatica congenita, Dilatation of the aortic arch, Dystrophic toenail, Failure to thrive, Finger syndactyly, Heart murmur, Hydrocephalus, Hypertension, Microphthalmia, Phenotypic variability, Pulmonary arterial hypertension, Pulmonary artery atresia, Pulmonic stenosis, Right ventricular hypertrophy, Short distal phalanx of finger, Sparse hair, Split hand, Strabismus, Syndactyly, Talipes, Tetralogy of Fallot, Thoracic aorta calcification
MGE-RG2	ABAT	1.248368099	1.59E-07	Enzyme: Aminotransferase	BrainSpLMD|18;Eurexp|euxassay_001907|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, thymus primordium, trigeminal V, ventricular layer;BrainSpMouseDev|92603	SFARI||Autism, 4 - Minimal evidence;OMIM|137150;HPO|18|Agenesis of corpus callosum, Autosomal recessive inheritance, Cerebellar hypoplasia, Death in childhood, Downslanted palpebral fissures, Global developmental delay, High-pitched cry, Hyperreflexia, Lethargy, Leukodystrophy, Posterior fossa cyst, Retrognathia, Seizures, Severe muscular hypotonia, Tall stature
MGE-RG2	AC016739.2	0.613466427	1.62E-07			
MGE-RG2	BRCA2	1.848063631	1.82E-07	Transcription regulatory protein	BrainSpLMD|675;Eurexp|euxassay_019615|ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|600185;COSMIC||breast, ovarian, pancreatic, breast, ovarian, pancreatic, leukaemia  (FANCB, FANCD1);HPO|675|Abdominal pain, Abnormality of chromosome stability, Abnormality of the fallopian tube, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone marrow hypocellularity, Breast carcinoma, Chromosomal breakage induced by crosslinking agents, Esophageal atresia, Global developmental delay, Heterogeneous, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Nephroblastoma, Ovarian neoplasm, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Somatic mutation, Thrombocytopenia, Tracheoesophageal fistula
MGE-RG2	AC016708.2	0.910422827	1.88E-07			
MGE-RG2	UTP20	1.349073488	1.89E-07	Unclassified	BrainSpLMD|27340	OMIM|612822
MGE-RG2	SCD	0.543244435	2.37E-07	Enzyme: Oxidoreductase	BrainSpLMD|6319;Eurexp|euxassay_012236|adrenal gland, axial skeleton, basal columns, cervico-thoracic, clavicle, dorsal root ganglion, ductus deferens, embryo, facial VII, glossopharyngeal IX, hindgut, incisor, larynx, lens, lobe, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, neural retina, nucleus pulposus, orbito-sphenoid, otic capsule, pancreas, petrous part, pharyngo-tympanic tube, pituitary, rectum, rib, skeletal muscle, stomach, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, turbinate, urethra, vagus X, vault of skull, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|604031
MGE-RG2	RPL41P1	0.25811845	2.47E-07			
MGE-RG2	HNRNPA1P48	0.626915518	2.51E-07			
MGE-RG2	TPI1	0.645163739	2.52E-07	Enzyme: Isomerase	BrainSpLMD|7167	OMIM|190450;HPO|7167|Abnormality of immune system physiology, Autosomal recessive inheritance, Central nervous system degeneration, Cholecystitis, Cholelithiasis, Chronic hemolytic anemia, Congestive heart failure, Diaphragmatic paralysis, Dystonia, Generalized hypotonia, Global developmental delay, Hemolytic anemia, Hyporeflexia, Jaundice, Kyphosis, Muscular hypotonia, Myopathy, Normochromic anemia, Normocytic anemia, Peripheral neuropathy, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Splenomegaly, Tremor, Unsteady gait
MGE-RG2	HSPD1	0.668953541	2.63E-07	Heat shock protein	BrainSpLMD|3329;BrainSpMouseDev|15285	OMIM|118190;HPO|3329|Apnea, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Choreoathetosis, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hyperreflexia, Impaired vibration sensation in the lower limbs, Intellectual disability, profound, Leukodystrophy, Lower limb muscle weakness, Lower limb spasticity, Neonatal onset, Nystagmus, Postnatal microcephaly, Progressive, Progressive spasticity, Seizures, Spastic gait, Spastic paraplegia, Strabismus, Urinary bladder sphincter dysfunction, Urinary incontinence, Urinary urgency
MGE-RG2	RRM1	1.09721676	2.66E-07	Cell cycle control protein	BrainSpLMD|6240;Eurexp|euxassay_018692|cortex, incisor, lobe, lung, mandible, marginal layer, mesenchyme, molar, neural retina, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|180410
MGE-RG2	RPL5P34	0.372762035	2.87E-07			
MGE-RG2	RANBP1	1.056948251	3.09E-07	Transport/cargo protein		OMIM|601180
MGE-RG2	MT.ND2	0.355183923	3.13E-07			
MGE-RG2	H2AFZ	0.766486913	3.27E-07	DNA binding protein	BrainSpLMD|3015	OMIM|142763
MGE-RG2	PDLIM3	1.496791107	3.40E-07	Unclassified	BrainSpLMD|27295	OMIM|605889
MGE-RG2	CYR61	1.181707953	3.45E-07	Extracellular matrix protein	BrainSpLMD|3491;BrainSpMouseDev|15780	OMIM|602369
MGE-RG2	SNRPD1	0.866587792	3.71E-07	RNA binding protein	BrainSpLMD|6632	OMIM|601063
MGE-RG2	RPS18	0.491339371	3.75E-07	Ribosomal subunit	BrainSpLMD|6222	OMIM|180473
MGE-RG2	SPECC1	1.050177311	3.81E-07	Unclassified	BrainSpLMD|92521;Eurexp|euxassay_013924|aorta, liver, molar, ventricular layer	OMIM|608793;COSMIC||JMML
MGE-RG2	GMNN	1.43128102	4.16E-07	Cell cycle control protein	BrainSpLMD|51053;Eurexp|euxassay_013652|cortex, incisor, lobe, lung, molar, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|602842;HPO|51053|Abnormality of epiphysis morphology, Abnormality of the ribs, Anotia, Aplastic clavicles, Atresia of the external auditory canal, Autosomal dominant inheritance, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Conductive hearing impairment, Craniosynostosis, Cryptorchidism, Delayed puberty, Delayed skeletal maturation, Depressed nasal ridge, Failure to thrive, Feeding difficulties, Growth hormone deficiency, High, narrow palate, Hip dysplasia, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Microtia, third degree, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Recurrent respiratory infections, Respiratory distress, Respiratory failure, Retrognathia, Severe short stature, Short middle phalanx of finger, Slender long bone, Stenosis of the external auditory canal, Umbilical hernia
MGE-RG2	PKM	0.950826693	4.96E-07	Enzyme: Phosphotransferase	BrainSpLMD|5315	OMIM|179050
MGE-RG2	PPAP2B	0.752036644	4.96E-07			
MGE-RG2	RPL13A	0.56833713	5.42E-07	Ribosomal subunit		
MGE-RG2	RPA2	1.117624554	5.49E-07	DNA binding protein	BrainSpLMD|6118;Eurexp|euxassay_004500|marginal layer, ventricular layer	OMIM|179836
MGE-RG2	HNRNPA2B1	0.575647214	5.65E-07	Ribonucleoprotein;RNA binding protein	BrainSpLMD|3181	OMIM|600124;COSMIC||prostate;HPO|3181|Abnormality of the skeletal system, Behavioral abnormality, Centrally nucleated skeletal muscle fibers, Elevated serum creatine phosphokinase, Frontotemporal dementia, Muscle fiber atrophy, Muscular dystrophy, Myopathy, Myositis, Skeletal muscle atrophy
MGE-RG2	GLO1	1.301129159	6.08E-07	Enzyme: Lyase	BrainSpLMD|2739	SFARI||Autism, 4 - Minimal evidence;OMIM|138750
MGE-RG2	RPL31	0.450255689	6.15E-07	Ribosomal subunit	BrainSpLMD|6160	OMIM|617415
MGE-RG2	MAD2L1	1.084417029	6.69E-07	Cell cycle control protein	BrainSpLMD|4085	OMIM|601467
MGE-RG2	CENPK	1.252356445	7.01E-07	Unclassified	BrainSpLMD|64105	OMIM|611502
MGE-RG2	BRIP1	1.758118924	7.27E-07	DNA helicase	BrainSpLMD|83990;Eurexp|euxassay_013686|cochlea, marginal layer, ventricular layer	OMIM|605882;COSMIC||AML, leukaemia, breast;HPO|83990|Abnormality of chromosome stability, Abnormality of the fallopian tube, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone marrow hypocellularity, Breast carcinoma, Chromosomal breakage induced by crosslinking agents, Esophageal atresia, Global developmental delay, Heterogeneous, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Ovarian neoplasm, Postnatal growth retardation, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
MGE-RG2	CNBP	0.856158984	7.28E-07	RNA binding protein	BrainSpLMD|7555	OMIM|116955;COSMIC||aneurysmal bone cyst;HPO|7555|Autosomal dominant inheritance, Cataract, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, Elevated serum creatine phosphokinase, Frontal balding, Hypogonadism, IgG deficiency, IgM deficiency, Insulin insensitivity, Iridescent posterior subcapsular cataract, Myalgia, Myotonia, Neck flexor weakness, Oligospermia, Palpitations, Proximal muscle weakness, Tachycardia, Type 2 muscle fiber atrophy
MGE-RG2	PTMAP5	0.342274758	7.48E-07			
MGE-RG2	PDLIM5	1.718466285	9.31E-07	Adapter molecule	BrainSpLMD|10611;Eurexp|euxassay_011640|alar columns, axial skeleton, bladder, choroid plexus, clavicle, dorsal grey horn, floor plate, floorplate, mesenchyme, metanephros, midgut, oesophagus, stomach, submandibular gland primordium, trachea, urethra, ventral grey horn, ventricular layer	OMIM|605904
MGE-RG2	VRK1	0.775292161	9.87E-07	Serine/threonine kinase	BrainSpLMD|7443	OMIM|602168;HPO|7443|Abnormality of the foot, Ataxia, Autosomal recessive inheritance, Basal ganglia gliosis, Cerebellar hypoplasia, Congenital contracture, Congenital onset, Degeneration of anterior horn cells, EMG: neuropathic changes, Fasciculations, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hyperreflexia, Hypoplasia of the pons, Hypoplasia of the ventral pons, Intellectual disability, Muscle weakness, Neuronal loss in basal ganglia, Progressive, Respiratory insufficiency, Spinal muscular atrophy
MGE-RG2	RPL6	0.722972662	1.25E-06	Ribosomal subunit	BrainSpLMD|6128	OMIM|603703
MGE-RG2	RPL35	0.602082228	1.25E-06	Ribosomal subunit	BrainSpLMD|11224	
MGE-RG2	H2AFY	0.725579743	1.27E-06	DNA binding protein	BrainSpLMD|9555	OMIM|610054
MGE-RG2	COL9A1	1.233106242	1.28E-06	Extracellular matrix protein	BrainSpLMD|1297;Eurexp|euxassay_011520|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, hyoid bone, mandible, maxilla, metacarpus, metatarsus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, radius, rib, scapula, sternum, submandibular gland primordium, temporal bone, thyroid, tibia, trachea, turbinate, ulna, vault of skull;BrainSpMouseDev|12622	OMIM|120210;HPO|1297|Abnormality of epiphysis morphology, Abnormality of the knee, Amblyopia, Arthralgia, Arthralgia of the hip, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Childhood onset, Cleft palate, Degenerative vitreoretinopathy, Epiphyseal dysplasia, Flat capital femoral epiphysis, Flat distal femoral epiphysis, Flat face, Gait disturbance, Genu valgum, Hip dysplasia, Irregular distal femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Limitation of joint mobility, Malar flattening, Micrognathia, Micromelia, Multiple epiphyseal dysplasia, Myopia, Osteoarthritis, Platyspondyly, Retinal detachment, Schmorl's node, Sensorineural hearing impairment, Severe Myopia, Short stature, Small epiphyses, Vitreoretinal degeneration
MGE-RG2	FAM60A	1.136720753	1.44E-06			
MGE-RG2	ENO1	0.919304134	1.59E-06	Enzyme: Hydratase	BrainSpLMD|2023	OMIM|172430
MGE-RG2	DEK	0.953199889	1.60E-06	DNA binding protein	BrainSpLMD|7913	OMIM|125264;COSMIC||AML
MGE-RG2	RPS25	0.442448328	1.69E-06	Ribosomal subunit	BrainSpLMD|6230	OMIM|180465
MGE-RG2	RPL4P5	0.540997311	1.79E-06			
MGE-RG2	FKBP10	1.087868007	2.12E-06	Unclassified	BrainSpLMD|60681	OMIM|607063;HPO|60681|Abnormality of the skin, Ankle contracture, Aplasia/Hypoplasia of the patella, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Biconcave vertebral bodies, Blue sclerae, Brachycephaly, Coxa vara, Dentinogenesis imperfecta, Elbow flexion contracture, Elevated alkaline phosphatase, Gait disturbance, Hip contracture, Increased susceptibility to fractures, Joint laxity, Joint stiffness, Knee flexion contracture, Kyphoscoliosis, Kyphosis, Osteopenia, Osteoporosis, Pectus carinatum, Platyspondyly, Protrusio acetabuli, Pterygium, Recurrent fractures, Respiratory insufficiency, Scoliosis, Short stature, Talipes, Talipes equinovarus, Triangular face, Vertebral compression fractures, Vertebral wedging, Wormian bones
MGE-RG2	AC006115.3	2.014908462	2.24E-06			
MGE-RG2	MCM10	1.547875952	2.52E-06	DNA binding protein	BrainSpLMD|55388	OMIM|609357
MGE-RG2	EEF1A1P6	0.463977903	2.73E-06			
MGE-RG2	RAN	0.474627392	2.84E-06	GTPase	BrainSpLMD|5901	OMIM|601179
MGE-RG2	ATAD2	0.731350734	2.84E-06	ATPase	BrainSpLMD|29028;Eurexp|euxassay_012771|ventricular layer	OMIM|611941
MGE-RG2	LITAF	1.200945381	2.84E-06	Transcription factor	BrainSpLMD|9516;Eurexp|euxassay_013657|axial skeleton, incisor, molar, submandibular gland primordium, urethra, ventricular layer, vestibular component, vibrissa	OMIM|603795;HPO|9516|Autosomal dominant inheritance, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Juvenile onset, Onion bulb formation, Pes cavus, Segmental peripheral demyelination/remyelination
MGE-RG2	TMEM97	1.412324129	2.88E-06	Unclassified	BrainSpLMD|27346;Eurexp|euxassay_006766|axial skeleton, clavicle, cranium, digit 1, digit 2, digit 3, digit 4, digit 5, femur, fibula, handplate, humerus, incisor, liver, mandible, maxilla, naris, pancreas, petrous part, radius, rib, scapula, submandibular gland primordium, tibia, turbinate bones, ulna, vibrissa	OMIM|612912
MGE-RG2	SRSF10	0.631260247	3.11E-06	RNA binding protein	Eurexp|euxassay_000064|adenohypophysis, cardiac muscle, endocardial lining, limb, vertebral axis muscle system	OMIM|605221
MGE-RG2	RPS3A	0.488392881	3.36E-06	Ribosomal subunit		OMIM|180478
MGE-RG2	AHI1	0.765036525	3.36E-06	Adapter molecule	BrainSpLMD|54806;Eurexp|euxassay_005590|brain, cervical, cervico-thoracic, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V;BrainSpMouseDev|32386	SFARI||Autism, No category;OMIM|608894;HPO|54806|Abnormal electroretinogram, Anteverted nares, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Central apnea, Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Enlarged fossa interpeduncularis, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Heterogeneous, Highly arched eyebrow, Intellectual disability, Long face, Low-set ears, Molar tooth sign on MRI, Motor delay, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nystagmus, Oculomotor apraxia, Open mouth, Pigmentary retinopathy, Ptosis, Retinal dystrophy, Stage 5 chronic kidney disease, Visual impairment, Wide nasal bridge
MGE-RG2	LRR1	2.043870188	3.40E-06	Unclassified	BrainSpLMD|122769	OMIM|609193
MGE-RG2	HMGN5	1.305858754	3.45E-06	Transcription regulatory protein	BrainSpLMD|79366;BrainSpMouseDev|30371	OMIM|300385
MGE-RG2	GPATCH4	1.392241268	3.72E-06	Unclassified	BrainSpLMD|54865	
MGE-RG2	TPI1P1	0.726634252	4.00E-06			
MGE-RG2	GNL3	1.259761414	4.34E-06	Cell cycle control protein	BrainSpLMD|26354;Eurexp|euxassay_006219|cortex, incisor, left, left lung, mandible, marginal layer, maxilla, midgut, molar, neural retina, orbito-sphenoid, palatal shelf, right, right lung, submandibular gland primordium, testis, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|608011
MGE-RG2	CCDC138	1.21712552	4.43E-06	Unclassified	BrainSpLMD|165055	
MGE-RG2	DLX2	0.455405174	4.52E-06	Transcription factor	BrainSpLMD|1746;BrainSpMouseDev|13171	SFARI||Autism, 4 - Minimal evidence;OMIM|126255
MGE-RG2	MRPL45	1.348983486	4.56E-06	Ribosomal subunit	BrainSpLMD|84311	OMIM|611850
MGE-RG2	SCARNA22	0.658057729	4.63E-06			
MGE-RG2	LINC01158	0.26064895	4.78E-06			
MGE-RG2	GAB1	1.648226012	4.96E-06	Adapter molecule	BrainSpLMD|2549	OMIM|604439
MGE-RG2	RP11.36C20.1	0.69845441	5.39E-06			
MGE-RG2	MOB3B	0.96360697	5.43E-06	Unclassified	BrainSpLMD|79817;Eurexp|euxassay_011555|incisor, molar	OMIM|617652
MGE-RG2	HIST1H1C	0.313307808	5.51E-06	DNA binding protein	BrainSpLMD|3006;Eurexp|euxassay_015954|ventricular layer	OMIM|142710
MGE-RG2	ZEB1	0.56714158	5.88E-06	Transcription factor	BrainSpLMD|6935;Eurexp|euxassay_015398|central nervous system, meninges, vertebral axis muscle system;BrainSpMouseDev|21178	OMIM|189909;COSMIC||CCRCC, melanoma;HPO|6935|Autosomal dominant inheritance, Corneal dystrophy, Corneal guttata
MGE-RG2	SMC4	0.356586293	5.89E-06	Structural protein	BrainSpLMD|10051;Eurexp|euxassay_017379|incisor, liver, lung, metanephros, molar, neural retina, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|605575
MGE-RG2	RFTN2	0.750203235	6.28E-06	Unclassified	BrainSpLMD|130132	
MGE-RG2	FRMD5	1.798974041	6.31E-06	Integral membrane protein	BrainSpLMD|84978;Eurexp|euxassay_010946|atrium, bladder, brain, calyces, cervical, cervico-thoracic, collecting ducts, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, left lung, medulla, mesenchyme, mesentery, midgut, molar, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, peritoneal cavity, rectum, retina, right lung, spinal cord, stomach, thoracic, trachea, trigeminal V, urethra, vagus X, ventricle, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|616309
MGE-RG2	ORC6	1.433760528	6.56E-06	DNA binding protein	BrainSpLMD|23594;Eurexp|euxassay_007673|cortex, incisor, left, mandible, molar, right, submandibular gland primordium, ventricular layer	OMIM|607213;HPO|23594|Abnormality of epiphysis morphology, Abnormality of the ribs, Absent sternal ossification, Anotia, Aplasia/Hypoplasia of the patella, Aplastic clavicles, Atresia of the external auditory canal, Autosomal recessive inheritance, Birth length less than 3rd percentile, Breast hypoplasia, Bronchomalacia, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Coxa vara, Craniosynostosis, Cryptorchidism, Delayed skeletal maturation, Downslanted palpebral fissures, Dyspnea, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Genu varum, High, narrow palate, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypospadias, Intrauterine growth retardation, Joint hyperflexibility, Laryngomalacia, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Micropenis, Microretrognathia, Microtia, Microtia, third degree, Narrow chest, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Prominent nasal bridge, Recurrent pneumonia, Respiratory distress, Respiratory failure, Retrognathia, Scrotal hypoplasia, Severe short stature, Short ribs, Short thorax, Slender long bone, Talipes equinovarus, Thick lower lip vermilion, Tracheomalacia, Triangular face
MGE-RG2	RPL8	0.713460384	6.85E-06	Ribosomal subunit	BrainSpLMD|6132;Eurexp|euxassay_006230|left, right	OMIM|604177
MGE-RG2	RBBP8	1.223514978	7.17E-06	Transcription regulatory protein	BrainSpLMD|5932	OMIM|604124;HPO|5932|4-5 toe syndactyly, Abnormality of dental enamel, Absent earlobe, Absent fourth finger distal interphalangeal crease, Aggressive behavior, Autosomal recessive inheritance, Cachexia, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital microcephaly, Convex nasal ridge, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Few cafe-au-lait spots, Glaucoma, Growth delay, Hallux valgus, Heart murmur, Hip dysplasia, Hypospadias, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Microdontia, Microglossia, Micrognathia, Microphthalmia, Mild global developmental delay, Narrow face, Narrow forehead, Prematurely aged appearance, Prominent nose, Reduced number of teeth, Retrognathia, Sandal gap, Short middle phalanx of the 5th finger, Short stature, Single interphalangeal crease of fifth finger, Small for gestational age, Sparse scalp hair, Thoracic scoliosis
MGE-RG2	RBBP4P1	0.664051114	7.46E-06			
MGE-RG2	FAM111B	1.994582323	7.55E-06	Unclassified	BrainSpLMD|374393	OMIM|615584;HPO|374393|Alopecia, Autosomal dominant inheritance, Elevated serum creatine phosphokinase, Hepatomegaly, Hypohidrosis, Poikiloderma, Skeletal muscle atrophy
MGE-RG2	TRIM26	0.329686508	8.37E-06	DNA binding protein	BrainSpLMD|7726	OMIM|600830
MGE-RG2	SSB	0.399151819	8.39E-06	RNA binding protein	BrainSpLMD|6741	OMIM|109090
MGE-RG2	RPS15	0.480606963	8.44E-06	Ribosomal subunit	BrainSpLMD|6209;Eurexp|euxassay_006826|embryo	OMIM|180535
MGE-RG2	AC079250.1	0.381797667	8.51E-06			
MGE-RG2	ATP1A2	1.107375511	8.51E-06	ATPase	BrainSpLMD|477;Eurexp|euxassay_001505|brain, cervical, cervico-thoracic, cochlea, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mesenchyme, naris, neural retina, spinal cord, stroma, thoracic, tongue, trigeminal V, turbinate bones, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|62830	OMIM|182340;HPO|477|Abnormality of movement, Aphasia, Apraxia, Ataxia, Autosomal dominant inheritance, Blurred vision, Choreoathetosis, Coma, Confusion, Diplopia, Drowsiness, Dysarthria, Dysphasia, Dystonia, Episodic ataxia, Episodic hemiplegia, Episodic quadriplegia, Fever, Generalized tonic-clonic seizures, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Heterogeneous, Incomplete penetrance, Intellectual disability, Mental deterioration, Migraine with aura, Nystagmus, Seizures, Transient unilateral blurring of vision, Vertigo
MGE-RG2	TMEM106C	0.921087722	8.60E-06	Unclassified	BrainSpLMD|79022	
MGE-RG2	ZNF662	0.607720486	9.24E-06	DNA binding protein	BrainSpLMD|389114	
MGE-RG2	MNS1	1.855927948	9.90E-06	Structural protein	BrainSpLMD|55329	OMIM|610766
MGE-RG2	ANAPC11	0.829523149	1.07E-05	Enzyme: Ligase	BrainSpLMD|51529	OMIM|614534
MGE-RG2	RPL13	0.853576878	1.08E-05	Ribonucleoprotein	BrainSpLMD|6137	OMIM|113703
MGE-RG2	CDK2	1.613413783	1.09E-05	Cell cycle control protein	BrainSpLMD|1017	OMIM|116953
MGE-RG2	RP11.26H16.1	0.373256603	1.11E-05			
MGE-RG2	HMGN2P6	0.266100343	1.13E-05			
MGE-RG2	ZHX2	1.556601387	1.19E-05	Transcription factor	BrainSpLMD|22882;BrainSpMouseDev|122629	OMIM|609185
MGE-RG2	TLE3	1.107960614	1.21E-05	Transcription regulatory protein	BrainSpLMD|7090;BrainSpMouseDev|21646	OMIM|600190
MGE-RG2	RP11.101E13.5	0.816015932	1.26E-05			
MGE-RG2	POLE2	1.174659592	1.30E-05	DNA polymerase	BrainSpLMD|5427;Eurexp|euxassay_006546|choroid invagination, choroid plexus, diaphragm, extrinsic, intrinsic, mesenchyme, paraxial mesenchyme, roof plate, vertebral axis muscle system	OMIM|602670
MGE-RG2	SNHG6	0.677951077	1.39E-05			OMIM|612215
MGE-RG2	PPIAP22	0.492271723	1.48E-05			
MGE-RG2	CORO1C	0.968132867	1.53E-05	Cytoskeletal associated protein	BrainSpLMD|23603	OMIM|605269
MGE-RG2	DIS3L	1.165079943	1.57E-05	Unclassified	BrainSpLMD|115752	OMIM|614183
MGE-RG2	C5orf30	1.520464517	1.63E-05	Unclassified	BrainSpLMD|90355	OMIM|616608
MGE-RG2	RP11.553L6.5	1.003619541	1.63E-05			
MGE-RG2	RIC3	1.625845431	1.84E-05	Integral membrane protein	BrainSpLMD|79608	OMIM|610509
MGE-RG2	RFC1	1.177463339	1.90E-05	DNA binding protein	BrainSpLMD|5981	OMIM|102579
MGE-RG2	SMC2	0.93576861	1.90E-05	Unclassified	BrainSpLMD|10592;Eurexp|euxassay_011062|cortex, dorsal grey horn, incisor, lobe, lung, marginal layer, molar, orbito-sphenoid, submandibular gland primordium, thymus primordium, turbinate bones, ventral grey horn, ventricular layer, vibrissa	OMIM|605576
MGE-RG2	RPS3	0.547567026	1.99E-05	Ribosomal subunit		OMIM|600454
MGE-RG2	CDK1	1.364684477	2.05E-05	Serine/threonine kinase	BrainSpLMD|983	OMIM|116940
MGE-RG2	RPSAP47	0.570767498	2.36E-05			
MGE-RG2	ITGB3BP	0.769698988	2.37E-05	Transcription regulatory protein	BrainSpLMD|23421	OMIM|605494
MGE-RG2	SET	0.309460926	2.67E-05	MHC complex protein	BrainSpLMD|6418;Eurexp|euxassay_006723|embryo	OMIM|600960;COSMIC||T-ALL
MGE-RG2	PARP1	0.811245797	2.70E-05	Enzyme: Ribosyltransferase	BrainSpLMD|142	OMIM|173870
MGE-RG2	WEE1	0.27043801	2.80E-05	Dual specificity kinase	BrainSpLMD|7465;Eurexp|euxassay_016462|hindgut, lung, midgut, stomach, submandibular gland primordium, ventricular layer	OMIM|193525
MGE-RG2	PCDH17	0.321354611	2.82E-05	Adhesion molecule	BrainSpLMD|27253	OMIM|611760
MGE-RG2	RP11.3P17.3	0.329905623	2.83E-05			
MGE-RG2	TRIM9	1.505295913	2.93E-05	Unclassified	BrainSpLMD|114088;Eurexp|euxassay_010509|mantle layer, molar, ventricular layer	OMIM|606555
MGE-RG2	MSH6	1.014059743	2.98E-05	DNA repair protein	BrainSpLMD|2956;Eurexp|euxassay_006580|embryo	OMIM|600678;COSMIC||colorectal, colorectal, endometrial, ovarian;HPO|2956|Abdominal pain, Abnormality of abdomen morphology, Adenoma sebaceum, Anxiety, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary freckling, Basal cell carcinoma, Cafe-au-lait spot, Colon cancer, Constipation, Death in early adulthood, Death in infancy, Depressivity, Endometrial carcinoma, Ependymoma, Fatigue, Gastrointestinal hemorrhage, Glioblastoma, Hereditary nonpolyposis colorectal carcinoma, Hypermelanotic macule, Hypertonia, Incomplete penetrance, Increased intracranial pressure, Irritability, Leukemia, Lymphoma, Malabsorption, Medulloblastoma, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Neoplasm of the stomach, Neuroblastoma, Rhabdomyosarcoma, Seizures, Weight loss
MGE-RG2	RPLP2	0.425796794	3.25E-05	Ribosomal subunit		OMIM|180530
MGE-RG2	MTND4P12	0.567718361	3.30E-05			
MGE-RG2	CEP152	1.029997903	3.32E-05	Unclassified	Eurexp|euxassay_011313|axial skeleton, basioccipital bone, choroid invagination, choroid plexus, epithelium, femur, humerus, inner ear, olfactory, pelvic girdle, pituitary, roof plate, scapula, vomeronasal organ	OMIM|613529;HPO|22995|Abnormal cortical bone morphology, Abnormal cortical gyration, Abnormality of dental enamel, Absent earlobe, Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Bimanual synkinesia, Cachexia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Heterotopia, High palate, Hip dysplasia, Hyperreflexia, Hypodontia, Hypoplasia of the frontal lobes, Impulsivity, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint hyperflexibility, Large beaked nose, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Oligodontia, Pachygyria, Prematurely aged appearance, Prominent nasal bridge, Reduced number of teeth, Retrognathia, Sandal gap, Short stature, Sloping forehead, Sparse scalp hair, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-RG2	G3BP1	0.857794847	3.41E-05	RNA binding protein;Ribonuclease	BrainSpLMD|10146	OMIM|608431
MGE-RG2	TROVE2	0.467734167	3.59E-05	RNA binding protein	BrainSpLMD|6738	OMIM|600063
MGE-RG2	AIF1L	1.718954169	3.64E-05	Calcium binding protein	BrainSpLMD|83543;Eurexp|euxassay_002250|basisphenoid bone, orbito-sphenoid, turbinate, ventricular layer	
MGE-RG2	ARL4A	0.471007764	3.71E-05	GTPase	BrainSpLMD|10124;Eurexp|euxassay_007257|lung, mandible, mantle layer, maxilla, meninges, oesophagus, urethra, vertebral axis muscle system	OMIM|604786
MGE-RG2	C3orf58	0.748969712	3.92E-05	Unclassified	BrainSpLMD|205428	SFARI||Autism, 4 - Minimal evidence;OMIM|612200
MGE-RG2	DLEU2	1.016358219	3.93E-05	Unclassified	BrainSpLMD|8847	OMIM|605766
MGE-RG2	MTND2P28	0.63752071	3.98E-05			
MGE-RG2	HNRNPA1	0.495679099	4.10E-05	RNA binding protein	BrainSpLMD|3178	OMIM|164017;HPO|3178|Abnormality of the abdominal musculature, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dyspnea, Elevated alkaline phosphatase, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Limb-girdle muscular dystrophy, Mildly elevated creatine phosphokinase, Muscle cramps, Muscle fiber inclusion bodies, Muscular dystrophy, Myopathy, Neurodegeneration, Pain, Paralysis, Proximal muscle weakness, Respiratory failure, Rimmed vacuoles, Skeletal muscle atrophy, Spasticity, Xerostomia
MGE-RG2	E2F7	1.516117043	4.34E-05	Transcription factor	BrainSpLMD|144455;Eurexp|euxassay_011832|cortex, ventricular layer;BrainSpMouseDev|32159	OMIM|612046
MGE-RG2	DLEU1	1.34274204	4.34E-05	Unclassified	BrainSpLMD|10301	OMIM|605765
MGE-RG2	FAM114A1	1.345033042	4.46E-05	Unclassified	BrainSpLMD|92689;Eurexp|euxassay_002429|Meckel's cartilage, cranium	
MGE-RG2	PDPN	1.860715914	4.53E-05	Water channel	BrainSpLMD|10630;Eurexp|euxassay_002001|axial skeleton, submandibular gland primordium, ventricular layer;BrainSpMouseDev|14502	OMIM|608863
MGE-RG2	RPS3AP6	0.482158761	4.53E-05			
MGE-RG2	FBL	1.106482049	4.69E-05	Ribonucleoprotein	BrainSpLMD|2091;Eurexp|euxassay_002909|submandibular gland primordium	OMIM|134795
MGE-RG2	GSTP1	0.677934094	4.78E-05	Enzyme: Glutathione transferase	BrainSpLMD|2950;Eurexp|euxassay_006221|lobe	OMIM|134660
MGE-RG2	APBB2	1.328700487	5.01E-05	Adapter molecule	BrainSpLMD|323;Eurexp|euxassay_007659|corpus striatum, mantle layer, nasal septum, neural retina, turbinate bones, ventral grey horn	OMIM|602710
MGE-RG2	YBX1	0.503002861	5.03E-05	Transcription factor	BrainSpLMD|4904	OMIM|154030
MGE-RG2	RPL37A	0.27360914	5.13E-05	Ribosomal subunit	BrainSpLMD|6168;Eurexp|euxassay_006825|embryo	OMIM|613314
MGE-RG2	SRI	0.63793152	5.23E-05	Calcium binding protein	BrainSpLMD|6717	OMIM|182520
MGE-RG2	CHIC2	1.202487872	5.32E-05	Integral membrane protein	BrainSpLMD|26511	OMIM|604332;COSMIC||AML
MGE-RG2	SCAF11	0.852342578	5.44E-05	RNA binding protein	BrainSpLMD|9169;Eurexp|euxassay_014100|ventricle, ventricular layer	OMIM|603668
MGE-RG2	JAM2	0.91112687	5.57E-05	Adhesion molecule	BrainSpLMD|58494	OMIM|606870
MGE-RG2	DUT	1.241865277	6.18E-05	Enzyme: Hydrolase	BrainSpLMD|1854	OMIM|601266
MGE-RG2	TMA16	0.707189651	6.28E-05	Unclassified	BrainSpLMD|55319;Eurexp|euxassay_001460|lobe, urethra	
MGE-RG2	AASS	0.499256145	6.49E-05	Enzyme: Oxidoreductase;Enzyme: Synthase	BrainSpLMD|10157	OMIM|605113;HPO|10157|Abnormality of the genitourinary system, Anemia, Autosomal recessive inheritance, Cognitive impairment, Delayed speech and language development, EEG abnormality, Ectopia lentis, Histidinuria, Hyperactivity, Hyperlysinemia, Hyperlysinuria, Infantile onset, Intellectual disability, Intellectual disability, mild, Muscular hypotonia, Phenotypic variability, Seizures, Short attention span, Short stature, Spastic diplegia
MGE-RG2	MRE11A	1.654779747	6.52E-05			
MGE-RG2	DERA	1.096504855	6.87E-05	Enzyme: Lyase	BrainSpLMD|51071	
MGE-RG2	ZNF718	1.742078379	6.94E-05	Unclassified	BrainSpLMD|255403	
MGE-RG2	SRSF7	0.580073037	7.00E-05	RNA binding protein	BrainSpLMD|6432	OMIM|600572
MGE-RG2	RPL5P1	0.290121115	7.19E-05			
MGE-RG2	ASCL1	0.930468197	7.60E-05	Transcription factor	BrainSpLMD|429;BrainSpMouseDev|16941	OMIM|100790;HPO|429|Abnormality of temperature regulation, Abnormality of the cardiovascular system, Abnormality of the mouth, Aganglionic megacolon, Autonomic dysregulation, Autosomal dominant inheritance, Breathing dysregulation, Central hypoventilation, Central sleep apnea, Constipation, Death in infancy, Downslanted palpebral fissures, Dysautonomia, Failure to thrive, Feeding difficulties, Ganglioneuroblastoma, Ganglioneuroma, Gastroesophageal reflux, Hyperhidrosis, Intellectual disability, Low-set ears, Muscular hypotonia, Posteriorly rotated ears, Seizures, Small for gestational age, Strabismus
MGE-RG2	RPL23	0.344453043	7.61E-05	Ribosomal subunit	BrainSpLMD|9349	OMIM|603662
MGE-RG2	RPS8	0.607828531	8.38E-05	Ribosomal subunit		OMIM|600357
MGE-RG2	SFXN2	1.409276306	8.43E-05	Transport/cargo protein	BrainSpLMD|118980	OMIM|615570
MGE-RG2	TMSB4XP8	0.422839461	8.69E-05	Cytoskeletal associated protein		
MGE-RG2	FEN1	1.513159292	8.71E-05	Deoxyribonuclease	BrainSpLMD|2237	OMIM|600393;COSMIC||breast cancer
MGE-RG2	RP11.587D21.1	0.277342961	8.89E-05			
MGE-RG2	PON2	0.548717558	9.13E-05	Enzyme: Esterase	BrainSpLMD|5445	OMIM|602447;HPO|5445|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
MGE-RG2	TYMS	1.864182185	9.21E-05	Enzyme: Ligase	BrainSpLMD|7298;Eurexp|euxassay_008886|cardiovascular system, cavities and their linings, gland, integumental system, limb, marginal layer, mesenchyme, sensory organ, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|188350
MGE-RG2	RPS10	0.891619185	9.24E-05	Ribosomal subunit	Eurexp|euxassay_005918|embryo	OMIM|603632;HPO|6204|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Anemia, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Growth delay, Macrocytic anemia, Migraine, Pallor, Vitamin D deficiency
MGE-RG2	PHF10	0.776685746	9.70E-05	Transcription regulatory protein	BrainSpLMD|55274	OMIM|613069
MGE-RG2	WRN	1.51621164	9.71E-05	Deoxyribonuclease	BrainSpLMD|7486	OMIM|604611;COSMIC||osteosarcoma, meningioma, other tumour types;HPO|7486|Abnormal hair whorl, Abnormality of retinal pigmentation, Abnormality of the hair, Abnormality of the thorax, Abnormality of the voice, Aplasia/Hypoplasia of the skin, Aplasia/Hypoplasia of the testes, Autosomal recessive inheritance, Cataract, Chondrocalcinosis, Congestive heart failure, Convex nasal ridge, Decreased fertility, Diabetes mellitus, Hyperkeratosis, Hypogonadism, Increased bone mineral density, Insulin resistance, Lack of skin elasticity, Lipoatrophy, Meningioma, Myocardial infarction, Narrow face, Osteoporosis, Osteosarcoma, Pili torti, Premature arteriosclerosis, Premature graying of hair, Progeroid facial appearance, Pulmonary artery stenosis, Retinal degeneration, Rocker bottom foot, Short stature, Skeletal muscle atrophy, Skin ulcer, Slender build, Small hand, Sparse scalp hair, Subcutaneous calcification, Telangiectasia of the skin, Type II diabetes mellitus, White forelock
MGE-RG2	KIAA1524	1.032899181	0.000102832			
MGE-RG2	GLTP	1.106068483	0.000102988	Transport/cargo protein	BrainSpLMD|51228;Eurexp|euxassay_005240|anterior, external, thymus primordium	OMIM|608949
MGE-RG2	PRKCE	1.935100659	0.000106286	Serine/threonine kinase	BrainSpLMD|5581;Eurexp|euxassay_009722|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, spinal cord, trigeminal V, vagus X	OMIM|176975
MGE-RG2	MIS18BP1	1.003439444	0.000111185	Transcription regulatory protein	BrainSpLMD|55320;Eurexp|euxassay_004198|ventricular layer	
MGE-RG2	HSPA5	0.733518409	0.000111218	Chaperone	BrainSpLMD|3309	OMIM|138120
MGE-RG2	DNMT1	0.66844005	0.000111685	DNA methyltransferase	BrainSpLMD|1786;BrainSpMouseDev|13212	OMIM|126375;HPO|1786|Adult onset, Apathy, Ataxia, Autosomal dominant inheritance, Cataplexy, Cerebellar atrophy, Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers, Dementia, Depressivity, Excessive daytime sleepiness, Excessive daytime somnolence, Hyperreflexia, Hyporeflexia, Impulsivity, Irritability, Memory impairment, Narcolepsy, Osteomyelitis, Primitive reflex, Progressive, Sensorineural hearing impairment, Sensory neuropathy, Spasticity
MGE-RG2	NME1	0.680449919	0.000113404	Enzyme: Phosphotransferase	BrainSpLMD|4830	OMIM|156490;HPO|4830|Abdominal pain, Abnormality of the thorax, Anemia, Ataxia, Autosomal dominant inheritance, Bone pain, Diarrhea, Elevated urinary dopamine, Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Failure to thrive, Fever, Ganglioneuroblastoma, Ganglioneuroma, Heterogeneous, Horner syndrome, Hypertension, Incomplete penetrance, Myoclonus, Neuroblastoma, Opsoclonus, Skin nodule, Spinal cord compression, Sporadic, Weight loss
MGE-RG2	UBE2Q2P6	0.411733707	0.000116982			
MGE-RG2	RHOA	0.530469922	0.000120508	GTPase	BrainSpLMD|387;BrainSpMouseDev|11635	OMIM|165390;COSMIC||diffuse gastric, T cell lymphomas, paediatric Burkitt lymphoma
MGE-RG2	ANXA7	1.347603429	0.000125566	Calcium binding protein	BrainSpLMD|310	OMIM|186360
MGE-RG2	FOSB	0.685660037	0.000125685	Transcription factor	BrainSpLMD|2354	OMIM|164772
MGE-RG2	RFC4	0.726419648	0.000130854	DNA binding protein	BrainSpLMD|5984	OMIM|102577
MGE-RG2	BIRC5	0.970648408	0.000131362	Adapter molecule	BrainSpLMD|332	OMIM|603352
MGE-RG2	RPL13AP5	0.417781252	0.000136597			
MGE-RG2	RP11.613M5.2	0.2603025	0.000137684			
MGE-RG2	CENPF	0.481710898	0.000139701	Cell cycle control protein	BrainSpLMD|1063	OMIM|600236
MGE-RG2	ALDH1B1	1.356815284	0.000143001	Enzyme: Dehydrogenase	BrainSpLMD|219;Eurexp|euxassay_011652|midgut, pancreas	OMIM|100670
MGE-RG2	POLD3	1.090465438	0.000143295	DNA polymerase	BrainSpLMD|10714;Eurexp|euxassay_007336|embryo	OMIM|611415
MGE-RG2	KLF4	0.828093738	0.000143947	Transcription regulatory protein	BrainSpLMD|9314;Eurexp|euxassay_005264|arm, bladder, clavicle, cranium, extraembryonic component, femur, fibula, footplate, forelimb, handplate, hindlimb, lower leg, mandible, maxilla, molar, oesophagus, orbito-sphenoid, palatal shelf, penis, rest of mesenchyme, rib, tibia, vertebral axis muscle system, vibrissa;BrainSpMouseDev|16373	OMIM|602253;COSMIC||meningioma
MGE-RG2	MCM6	1.248903525	0.000145452	Cell cycle control protein	BrainSpLMD|4175	OMIM|601806;HPO|4175|Abdominal pain, Autosomal dominant inheritance, Autosomal recessive inheritance, Decreased small intestinal mucosa lactase activity, Diarrhea, Lactose intolerance
MGE-RG2	NPY	0.967316018	0.000146354	Unclassified	BrainSpLMD|4852;Eurexp|euxassay_000446|basal plate, diencephalon, dorsal grey horn, mantle layer, marginal layer, telencephalon;BrainSpMouseDev|73806	OMIM|162640
MGE-RG2	HES6	0.625499676	0.000148956	Transcription regulatory protein	BrainSpLMD|55502;Eurexp|euxassay_018314|head mesenchyme, marginal layer, mesenchyme, molar, neural retina, olfactory, respiratory, retina, skeletal muscle, thymus primordium, trachea, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|35214	OMIM|610331
MGE-RG2	RPL5P17	0.307509666	0.000159861			
MGE-RG2	CNTLN	0.74625173	0.000162554	Unclassified	BrainSpLMD|54875	OMIM|611870
MGE-RG2	LIG1	0.598918542	0.000164897	DNA ligase	BrainSpLMD|3978;Eurexp|euxassay_018504|marginal layer, thymus primordium, ventricular layer	OMIM|126391
MGE-RG2	LDLR	0.96830144	0.000165965	Cell surface receptor	BrainSpLMD|3949;Eurexp|euxassay_010458|adrenal gland, cervical, cervico-thoracic, clavicle, hindgut, incisor, mandible, maxilla, metanephros, midgut, orbito-sphenoid, otic capsule, rib, submandibular gland primordium, thoracic, turbinate, ventral grey horn	OMIM|606945;HPO|3949|Abnormality of internal carotid artery, Angina pectoris, Aortic atherosclerosis, Autosomal dominant inheritance, Cerebral artery atherosclerosis, Corneal arcus, Coronary atherosclerosis, Dyspnea, Heart murmur, Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia, Hypertension, Increased circulating low-density lipoprotein levels, Left ventricular failure, Myocardial infarction, Myocardial steatosis, Peripheral arterial stenosis, Precocious atherosclerosis, Premature arteriosclerosis, Premature coronary artery disease, Renal artery stenosis, Sudden cardiac death, Xanthelasma
MGE-RG2	CHCHD3	0.732096609	0.000167388	Unclassified	BrainSpLMD|54927;Eurexp|euxassay_001805|lobe, orbito-sphenoid, thymus primordium	OMIM|613748
MGE-RG2	RAD51AP1	1.591442877	0.000168971	DNA binding protein	BrainSpLMD|10635;Eurexp|euxassay_010685|ventricular layer	OMIM|603070
MGE-RG2	NUP62	0.743449986	0.000169654	Transport/cargo protein	BrainSpLMD|23636	OMIM|605815;HPO|23636|Autosomal recessive inheritance, Choreoathetosis, Developmental regression, Developmental stagnation, Dysphagia, Dystonia, Failure to thrive, Intellectual disability, Optic atrophy, Pendular nystagmus, Spasticity
MGE-RG2	IGSF11	1.285689928	0.000176324	Adhesion molecule	BrainSpLMD|152404;Eurexp|euxassay_006186|embryo	OMIM|608351
MGE-RG2	KIF15	0.725162256	0.000178397	Cell cycle control protein	BrainSpLMD|56992	OMIM|617569
MGE-RG2	SFRP2	0.840228812	0.000193059	Secreted polypeptide	BrainSpLMD|6423;BrainSpMouseDev|20082	OMIM|604157
MGE-RG2	DLX1	1.016409243	0.000199198	Transcription factor	BrainSpLMD|1745;Eurexp|euxassay_008426|cochlea, epithelium, footplate, handplate, incisor, inner ear, mantle layer, midgut, naso-lacrimal duct, neural retina, oesophagus, paraxial mesenchyme, retina, skeletal muscle, skeleton, stomach, utricle, vibrissa;BrainSpMouseDev|13169	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600029
MGE-RG2	RPS20P14	0.429343724	0.000201077			
MGE-RG2	RPL27A	0.309868181	0.000204322	Ribosomal subunit	BrainSpLMD|6157	OMIM|603637
MGE-RG2	RPL39	0.300479952	0.000213582	Ribosomal subunit		OMIM|300899
MGE-RG2	RPSAP58	0.631510025	0.000214019		BrainSpLMD|388524	
MGE-RG2	SNRPD2	0.436783268	0.000217114	RNA binding protein	BrainSpLMD|6633;Eurexp|euxassay_007040|embryo	OMIM|601061
MGE-RG2	HNRNPA1P10	0.367597012	0.000217815			
MGE-RG2	NACA	0.797785837	0.000220144	Chaperone	BrainSpLMD|4666	OMIM|601234;COSMIC||NHL
MGE-RG2	RP11.408P14.1	0.739833511	0.000233036			
MGE-RG2	TMSB4X	0.493436848	0.000236377	Cytoskeletal associated protein		OMIM|300159
MGE-RG2	ZFP36L2	1.195880768	0.000238078	Transcription factor	BrainSpLMD|678	OMIM|612053
MGE-RG2	NACA3P	0.427752638	0.000240831			
MGE-RG2	PTMAP2	0.271466433	0.000242022			
MGE-RG2	PID1	0.771066634	0.000243555	Unclassified	BrainSpLMD|55022	OMIM|612930
MGE-RG2	TMSB4XP1	0.435540043	0.000245961	-	BrainSpLMD|7115	
MGE-RG2	SMC1A	1.427837904	0.000261014	Cell cycle control protein	BrainSpLMD|8243	SFARI||Autism, No category;OMIM|300040;COSMIC||AML, Cornelia de Lange syndrome;HPO|8243|Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Brachydactyly, Clinodactyly, Clinodactyly of the 5th finger, Cognitive impairment, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downslanted palpebral fissures, Downturned corners of mouth, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hirsutism, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Limited elbow movement, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Narrow forehead, Neurological speech impairment, Obsessive-compulsive behavior, Phthisis bulbi, Poor speech, Premature birth, Prominent nasal bridge, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Smooth philtrum, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Ventriculomegaly, Vesicoureteral reflux, Widely spaced teeth, X-linked dominant inheritance, X-linked recessive inheritance
MGE-RG2	PIKFYVE	0.3404402	0.000263108	Lipid Kinase	BrainSpLMD|200576	OMIM|609414;HPO|200576|Autosomal dominant inheritance, Photophobia, Speckled corneal dystrophy
MGE-RG2	MZT2B	0.627207721	0.00026433	Unclassified	BrainSpLMD|80097	OMIM|613450
MGE-RG2	USP1	0.488967713	0.000277855	Ubiquitin proteasome system protein	BrainSpLMD|7398	OMIM|603478
MGE-RG2	RPS4X	0.52720448	0.000281266	Ribosomal subunit	BrainSpLMD|6191;BrainSpMouseDev|19865	OMIM|312760
MGE-RG2	CDO1	0.791155035	0.00028323	Enzyme: Oxidoreductase	BrainSpLMD|1036	OMIM|603943
MGE-RG2	AC007969.5	0.418726131	0.000285871			
MGE-RG2	TMEM263	0.778291912	0.000288456	Integral membrane protein	BrainSpLMD|90488	
MGE-RG2	DAXX	1.503945885	0.000297869	Adapter molecule	BrainSpLMD|1616	OMIM|603186;COSMIC||pancreatic neuroendocrine tumour, paediatric glioblastoma
MGE-RG2	RPL21P120	0.4073052	0.000302257			
MGE-RG2	C9orf3	1.073064089	0.000332879	Aminopeptidase	BrainSpLMD|84909	
MGE-RG2	PRMT5	1.778424103	0.000333116	Enzyme: Methyltransferase	BrainSpLMD|10419	OMIM|604045
MGE-RG2	BTF3	0.461514794	0.000343084	Transcription factor	BrainSpLMD|689;Eurexp|euxassay_019495|clavicle, hindgut, incisor, liver, lung, metanephros, midgut, molar, oesophagus, pancreas, pharyngo-tympanic tube, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa;BrainSpMouseDev|85373	OMIM|602542
MGE-RG2	RPS3AP26	0.387086331	0.000354228			
MGE-RG2	YAP1	1.108694221	0.000360049	Transcription regulatory protein	BrainSpLMD|10413	OMIM|606608;HPO|10413|Autosomal dominant inheritance, Bilateral cleft lip and palate, Chorioretinal coloboma, Hematuria, Intellectual disability, Iris coloboma, Microphthalmia, Sensorineural hearing impairment
MGE-RG2	TMPO	0.589446599	0.000375031	Peptide hormone	BrainSpLMD|7112	OMIM|188380;HPO|7112|Autosomal dominant inheritance, Dilated cardiomyopathy, Reduced systolic function
MGE-RG2	DACH1	1.181928634	0.000384234	Transcription regulatory protein	BrainSpLMD|1602;Eurexp|euxassay_012739|associated mesenchyme, bladder, calyces, cortex, dermis, dorsal root ganglion, facial VII, left lung, mantle layer, meninges, midgut, olfactory, oral region, pelvis, penis, retina, right lung, stomach, thymus primordium, trigeminal V, ureter, urethra, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|12914	OMIM|603803
MGE-RG2	JUND	0.266022594	0.000391552	Transcription factor	BrainSpLMD|3727;BrainSpMouseDev|16251	OMIM|165162
MGE-RG2	RPL10A	0.676166456	0.000396661	Ribosomal subunit		OMIM|615660
MGE-RG2	SALL1	1.337181928	0.000398887	Transcription factor	BrainSpLMD|6299;Eurexp|euxassay_000198|basal columns, corpus striatum, epithelium, floor plate, floorplate, glomeruli, handplate, head mesenchyme, intermediate grey horn, isthmus, lateral wall, mantle layer, marginal layer, medulla oblongata, mesenchyme, olfactory, pars tuberalis, penis, skin, telencephalon, thyroid, ventral grey horn, ventricular layer;BrainSpMouseDev|37230	OMIM|602218;HPO|6299|2-3 toe syndactyly, 3-4 finger syndactyly, 3-4 toe syndactyly, Anal atresia, Anal stenosis, Anteriorly placed anus, Aplasia/Hypoplasia of the 3rd toe, Autosomal dominant inheritance, Bifid scrotum, Bifid uterus, Broad thumb, Chorioretinal coloboma, Clinodactyly of the 5th finger, Constipation, Cryptorchidism, Duodenal atresia, External ear malformation, Gastroesophageal reflux, Hearing impairment, Hypospadias, Hypothyroidism, Intellectual disability, Macrotia, Metatarsal synostosis, Microcephaly, Microtia, Overfolded helix, Overfolding of the superior helices, Partial duplication of thumb phalanx, Pes planus, Preauricular skin tag, Preaxial hand polydactyly, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Rectovaginal fistula, Renal insufficiency, Satyr ear, Short metatarsal, Stahl ear, Subcutaneous nodule, Tetralogy of Fallot, Toe clinodactyly, Triphalangeal thumb, Umbilical hernia, Urethral valve, Ventricular septal defect
MGE-RG2	CKS1B	1.167615464	0.000407198	Cell cycle control protein		OMIM|116900
MGE-RG2	TPM2	1.46217828	0.00041138	Cytoskeletal protein	BrainSpLMD|7169	OMIM|190990;HPO|7169|Abnormality of the ear, Abnormality of the hip bone, Absent phalangeal crease, Adducted thumb, Aplasia/Hypoplasia of the radius, Arthrogryposis multiplex congenita, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bulbar palsy, Calcaneovalgus deformity, Camptodactyly, Camptodactyly of finger, Centrally nucleated skeletal muscle fibers, Childhood onset, Congenital onset, Decreased fetal movement, Difficulty walking, Dilated cardiomyopathy, Distal arthrogryposis, Downslanted palpebral fissures, Dysphagia, Elbow flexion contracture, Facial diplegia, Facial palsy, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flexion contracture, Generalized hypotonia, Generalized muscle weakness, Gowers sign, Heterogeneous, High palate, Hyporeflexia, Joint stiffness, Kyphoscoliosis, Limb muscle weakness, Long face, Long philtrum, Lumbar hyperlordosis, Mandibular prognathia, Metatarsus adductus, Micrognathia, Motor delay, Muscular hypotonia, Myopathic facies, Myopathy, Narrow face, Narrow mouth, Neck muscle weakness, Nemaline bodies, Neonatal hypotonia, Overlapping fingers, Pectus excavatum, Prominent nasolabial fold, Protruding ear, Proximal muscle weakness, Ptosis, Recurrent respiratory infections, Reduced tendon reflexes, Reduced vital capacity, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Rocker bottom foot, Round ear, Scapular winging, Scoliosis, Short neck, Short stature, Skeletal muscle atrophy, Talipes, Talipes equinovarus, Tarsal synostosis, Triangular face, Type 1 fibers relatively smaller than type 2 fibers, Type 1 muscle fiber predominance, Ulnar deviation of finger, Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the wrist, Variable expressivity, Vertebral segmentation defect, Waddling gait, Weak cry, Webbed neck, Wide nasal bridge
MGE-RG2	RANP1	0.332709201	0.00041883			
MGE-RG2	SRRM1	0.474606256	0.000425901	Ribonuclease	BrainSpLMD|10250	OMIM|605975
MGE-RG2	RSL1D1	0.491497195	0.000434345	Unclassified	BrainSpLMD|26156	OMIM|615874
MGE-RG2	PRKDC	0.951382735	0.000435747	Serine/threonine kinase;DNA repair protein	BrainSpLMD|5591;Eurexp|euxassay_009524|thymus primordium	SFARI||Autism, 4 - Minimal evidence;OMIM|600899;HPO|5591|Autosomal recessive inheritance, Infantile onset, Microcephaly, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Severe combined immunodeficiency
MGE-RG2	C12orf29	1.326130349	0.000457836	Unclassified	BrainSpLMD|91298;Eurexp|euxassay_003260|basal plate, cochlear component, dorsal root ganglion, facial VII, inferior, left, lobe, right, superior, thymus primordium, trigeminal V, ventricular layer, vestibular component	
MGE-RG2	NOTCH3	0.830228652	0.000462162	Cell surface receptor	BrainSpLMD|4854;BrainSpMouseDev|17898	OMIM|600276;HPO|4854|Abnormal electroretinogram, Abnormal form of the vertebral bodies, Abnormality of the hair, Abnormality of the metaphysis, Abnormality of the middle ear ossicles, Abnormality of the musculature, Abnormality of the rib cage, Abnormality of the skin, Abnormality of the skull, Abnormality of the thorax, Abnormality of visual evoked potentials, Adult onset, Amaurosis fugax, Aphasia, Arachnoid cyst, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Autosomal dominant inheritance, Biconcave vertebral bodies, Bone cyst, Cerebral cortical atrophy, Cerebral ischemia, Chondrocalcinosis, Coarse hair, Coma, Conductive hearing impairment, Confusion, Cranial nerve paralysis, Craniofacial hyperostosis, Cryptorchidism, Dementia, Dental crowding, Depressivity, Developmental regression, Dolichocephaly, Downslanted palpebral fissures, Dural ectasia, EEG abnormality, Elevated serum creatine phosphokinase, Fever, Gait disturbance, Generalized hypotonia, Gingival fibromatosis, Hemiplegia, High palate, High, narrow palate, Hypertelorism, Impaired pain sensation, Inguinal hernia, Joint hyperflexibility, Joint hypermobility, Kyphosis, Leukoencephalopathy, Long philtrum, Low posterior hairline, Low-set ears, Malar flattening, Memory impairment, Meningocele, Micrognathia, Migraine, Motor delay, Narrow face, Neoplasm of the lung, Neoplasm of the skin, Nonarteritic anterior ischemic optic neuropathy, Patent ductus arteriosus, Pectus excavatum, Platybasia, Posteriorly rotated ears, Prominent metopic ridge, Pseudobulbar paralysis, Ptosis, Recurrent subcortical infarcts, Retinal arteriolar tortuosity, Sclerosis of skull base, Scoliosis, Seizures, Sensory neuropathy, Short nasal bridge, Short neck, Short stature, Smooth philtrum, Spasticity, Stroke, Subcortical dementia, Subcutaneous nodule, Syringomyelia, Umbilical hernia, Urinary incontinence, Varicose veins, Vertebral fusion, Visual impairment, Wormian bones
MGE-RG2	PHGDH	1.449500341	0.000468615	Enzyme: Dehydrogenase	BrainSpLMD|26227	OMIM|606879;HPO|26227|Ablepharon, Abnormality of the philtrum, Absent eyelashes, Absent septum pellucidum, Adducted thumb, Agenesis of corpus callosum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Bifid uterus, Broad foot, Calcaneovalgus deformity, Camptodactyly, Cataract, Cerebellar hypoplasia, Cerebral dysmyelination, Choroid plexus cyst, Cleft palate, Cleft upper lip, Clinodactyly, Congenital cataract, Congenital microcephaly, Cryptorchidism, Dandy-Walker malformation, Decreased fetal movement, Decreased testicular size, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Finger syndactyly, Generalized edema, Growth delay, Hydranencephaly, Hypertelorism, Hypogonadism, Hypsarrhythmia, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Lack of skin elasticity, Large hands, Lissencephaly, Macrogyria, Macrotia, Megaloblastic anemia, Microcephaly, Micrognathia, Micromelia, Microphthalmia, Muscle cramps, Muscular dystrophy, Nystagmus, Opisthotonus, Pachygyria, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Polymicrogyria, Proptosis, Pterygium, Pulmonary hypoplasia, Radial deviation of finger, Renal agenesis, Rocker bottom foot, Seizures, Short neck, Short umbilical cord, Skeletal muscle atrophy, Sloping forehead, Small placenta, Spastic tetraplegia, Spina bifida, Stillbirth, Thick lower lip vermilion, Thick vermilion border, Thrombocytopenia, Toe syndactyly, Transposition of the great arteries, Trismus, Ventricular septal defect, Yellow subcutaneous tissue covered by thin, scaly skin
MGE-RG2	STAG2	0.835268985	0.000472634	Cell cycle control protein	BrainSpLMD|10735;Eurexp|euxassay_016892|ventricular layer	OMIM|300826;COSMIC||bladder carcinoma, glioblastoma, melanoma, Ewing's sarcoma, myeloid neoplasms
MGE-RG2	RPL18	0.309382784	0.000474753	Ribosomal subunit	BrainSpLMD|6141	OMIM|604179
MGE-RG2	RAD23A	0.508207563	0.000480489	DNA repair protein	BrainSpLMD|5886	OMIM|600061
MGE-RG2	COA4	1.143334204	0.000481058	Unclassified	BrainSpLMD|51287	OMIM|608016
MGE-RG2	HMGB1P10	0.51079126	0.000488927			
MGE-RG2	CUTA	0.91587485	0.000491021	Unclassified	BrainSpLMD|51596	OMIM|616953
MGE-RG2	MGAT4C	1.010790006	0.000493267	Enzyme: Glucosaminyltransferase	BrainSpLMD|25834	OMIM|607385
MGE-RG2	EPHB2	0.86607147	0.000497757	Receptor tyrosine kinase	BrainSpLMD|2048;Eurexp|euxassay_018956|mandible, marginal layer, mesenchyme, rib, ventricular layer;BrainSpMouseDev|13622	SFARI||Autism, No category;OMIM|600997
MGE-RG2	ZKSCAN1	0.306254131	0.000498056	Transcription regulatory protein	BrainSpLMD|7586;Eurexp|euxassay_012753|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, olfactory, spinal cord, trigeminal V, vagus X;BrainSpMouseDev|50411	OMIM|601260
MGE-RG2	EGR1	0.749102352	0.000515636	Transcription factor	BrainSpLMD|1958;Eurexp|euxassay_008911|mesenchyme;BrainSpMouseDev|13431	OMIM|128990
MGE-RG2	CDC7	1.701064638	0.000519893	Cell cycle control protein	BrainSpLMD|8317;Eurexp|euxassay_012050|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|603311
MGE-RG2	GAPDHP65	0.346282242	0.000548788			
MGE-RG2	RCN1	1.271083189	0.000554166	Calcium binding protein	BrainSpLMD|5954;Eurexp|euxassay_006169|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, peripheral nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|19435	OMIM|602735
MGE-RG2	PABPN1	0.898489092	0.000564093	RNA binding protein	BrainSpLMD|8106	OMIM|602279;HPO|8106|Abnormality of the pharynx, Adult onset, Autosomal dominant inheritance, Distal muscle weakness, Dysarthria, Dysphagia, Elevated serum creatine phosphokinase, Facial palsy, Gait disturbance, Limb muscle weakness, Mask-like facies, Myopathy, Neck muscle weakness, Ophthalmoplegia, Progressive, Progressive ptosis, Proximal muscle weakness, Ptosis, Ragged-red muscle fibers, Rimmed vacuoles, Spondylolisthesis
MGE-RG2	PPIAP29	0.387847629	0.000566268			
MGE-RG2	PRDX2	0.547802033	0.000583917	Enzyme: Peroxidase	BrainSpLMD|7001;Eurexp|euxassay_006304|embryo	OMIM|600538
MGE-RG2	YBX3	1.08173343	0.000590357	DNA binding protein	BrainSpLMD|8531	OMIM|603437
MGE-RG2	FAM161A	0.68386986	0.000603062	Unclassified	Eurexp|euxassay_013156|choroid invagination, choroid plexus, roof plate	OMIM|613596;HPO|84140|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
MGE-RG2	MCM2	0.955183305	0.00067584	DNA binding protein	BrainSpLMD|4171;Eurexp|euxassay_009158|brain, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nerve, sensory organ, spinal cord, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|116945;HPO|4171|Autosomal dominant inheritance, Progressive sensorineural hearing impairment, Slow progression, Variable expressivity
MGE-RG2	BBX	0.331971778	0.00069106	Transcription factor	BrainSpLMD|56987;Eurexp|euxassay_001866|cortex, mantle layer, pituitary, testis, ventricular layer;BrainSpMouseDev|46349	
MGE-RG2	MBIP	0.773022871	0.000691114	Unclassified	BrainSpLMD|51562;Eurexp|euxassay_005376|lung	OMIM|609431
MGE-RG2	FOS	0.2920612	0.000727758	Transcription factor	BrainSpLMD|2353;Eurexp|euxassay_012634|mandible, maxilla;BrainSpMouseDev|14058	OMIM|164810;HPO|2353|Abnormality of skin pigmentation, Acanthosis nigricans, Accelerated skeletal maturation, Bone cyst, Broad foot, Diabetes mellitus, Generalized hirsutism, Growth hormone excess, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hyperinsulinemia, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Insulin resistance, Intellectual disability, Large hands, Lipoatrophy, Mandibular prognathia, Precocious puberty, Prominent supraorbital ridges, Skeletal muscle hypertrophy
MGE-RG2	PRDX4	0.706610984	0.000729148	Enzyme: Peroxidase	BrainSpLMD|10549	OMIM|300927
MGE-RG2	TMEM123	0.263390619	0.000729709	Cell surface receptor	BrainSpLMD|114908	OMIM|606356
MGE-RG2	NOP56	0.492278736	0.000763764	Unclassified	BrainSpLMD|10528	OMIM|614154;HPO|10528|Autosomal dominant inheritance, Babinski sign, Cerebellar atrophy, Dysarthria, Gait ataxia, Hyperreflexia, Impaired smooth pursuit, Incoordination, Limb ataxia, Progressive, Slow saccadic eye movements, Tongue atrophy, Tongue fasciculations
MGE-RG2	CCDC14	0.726584183	0.000763981	Transport/cargo protein	BrainSpLMD|64770	OMIM|617147
MGE-RG2	PRTFDC1	1.172776298	0.000773849	Unclassified	BrainSpLMD|56952	OMIM|610751
MGE-RG2	TMSB15A	0.378760875	0.000779141	Unclassified	BrainSpLMD|11013	OMIM|300939
MGE-RG2	BMS1	0.290362113	0.000825153	Unclassified	BrainSpLMD|9790	OMIM|611448;HPO|9790|Aplasia cutis congenita over the scalp vertex, Autosomal dominant inheritance, Autosomal recessive inheritance, Calvarial skull defect, Congenital localized absence of skin, Skin ulcer, Spinal dysraphism
MGE-RG2	HSPB1	0.315425603	0.000827023	Chaperone	BrainSpLMD|3315	OMIM|602195;HPO|3315|Adult onset, Areflexia, Areflexia of lower limbs, Autosomal dominant inheritance, Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Difficulty walking, Distal amyotrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal muscle weakness, Distal sensory impairment, EMG: chronic denervation signs, EMG: neuropathic changes, Fasciculations, Foot dorsiflexor weakness, Heterogeneous, Hyporeflexia, Hyporeflexia of lower limbs, Impaired pain sensation, Impaired temperature sensation, Limb fasciculations, Lower limb muscle weakness, Muscle cramps, Paresis of extensor muscles of the big toe, Peripheral axonal neuropathy, Peripheral neuropathy, Pes cavus, Reduced tendon reflexes, Slow progression, Split hand, Steppage gait, Talipes equinovarus, Ulnar claw, Upper limb amyotrophy
MGE-RG2	TMSB4XP4	0.289604489	0.000831217	-		
MGE-RG2	RP11.16F15.2	0.651131531	0.00083695			
MGE-RG2	LDHA	1.111434888	0.000846485	Enzyme: Dehydrogenase	BrainSpLMD|3939	OMIM|150000;HPO|3939|Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise intolerance, Increased serum lactate, Increased serum pyruvate, Juvenile onset, Muscle cramps, Muscle stiffness, Myalgia, Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Rigidity
MGE-RG2	ZRANB3	1.260606065	0.000849076	Unclassified	BrainSpLMD|84083	OMIM|615655
MGE-RG2	RREB1	1.075567254	0.000854466	Transcription factor	BrainSpLMD|6239;Eurexp|euxassay_007568|mantle layer;BrainSpMouseDev|44592	OMIM|602209;HPO|6239|Abnormal aortic arch morphology, Abnormal pulmonary valve morphology, Abnormality of the pharynx, Abnormality of the tonsils, Acne, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Bulbous nose, Carious teeth, Chronic otitis media, Cleft palate, Conductive hearing impairment, Constipation, Corneal neovascularization, Dysphasia, Epicanthus, Global developmental delay, Hypocalcemia, Hypoparathyroidism, Hypoplasia of the thymus, Immunodeficiency, Impaired T cell function, Intellectual disability, mild, Long face, Long philtrum, Low-set ears, Malar flattening, Muscular hypotonia, Myalgia, Nasal speech, Occipital myelomeningocele, Overfolded helix, Platybasia, Posterior embryotoxon, Prominent nasal bridge, Ptosis, Renal hypoplasia, Seborrheic dermatitis, Short neck, Short stature, Small earlobe, Specific learning disability, Telecanthus, Tetany, Tetralogy of Fallot, Truncus arteriosus, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge
MGE-RG2	CTPS1	1.00959505	0.00085639	Enzyme: Ligase	BrainSpLMD|1503	OMIM|123860;HPO|1503|Autosomal recessive inheritance, Defective T cell proliferation, Immunodeficiency, Immunoglobulin IgG2 deficiency, Lymphopenia, Severe viral infections
MGE-RG2	CTNNB1	0.656253807	0.000857823	Adhesion molecule	BrainSpLMD|1499;BrainSpMouseDev|12172	SFARI||Autism, 3 - Suggestive evidence;OMIM|116806;COSMIC||colorectal, ovarian, hepatoblastoma, pleomorphic salivary gland adenoma, other tumour types;HPO|1499|Abdominal pain, Abnormal hypothalamus morphology, Abnormal visual field test, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Autosomal dominant inheritance, Autosomal recessive inheritance, Bitemporal hemianopia, Breast carcinoma, Central adrenal insufficiency, Central diabetes insipidus, Cerebral calcification, Desmoid tumors, Dysgerminoma, Elevated alpha-fetoprotein, Enlarged pituitary gland, Epigastric pain, Excessive daytime somnolence, Fatigue, Generalized hypotonia, Global developmental delay, Headache, Hepatic fibrosis, Hepatic necrosis, Hepatocellular carcinoma, Hepatomegaly, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hypogonadotrophic hypogonadism, Hypoplasia of the corpus callosum, Incomplete penetrance, Infantile onset, Intellectual disability, Intestinal polyposis, Intracranial cystic lesion, Long philtrum, Malabsorption, Medulloblastoma, Microcephaly, Micronodular cirrhosis, Myalgia, Nausea and vomiting, Neoplasm of the anterior pituitary, Neoplasm of the stomach, Neurological speech impairment, Obesity, Ovarian papillary adenocarcinoma, Papilledema, Pilomatrixoma, Pituitary hypothyroidism, Portal vein thrombosis, Progressive visual field defects, Prolactin excess, Renal cell carcinoma, Slow decrease in visual acuity, Somatic mutation, Spastic diplegia, Strabismus, Subacute progressive viral hepatitis, Subcutaneous nodule, Thin upper lip vermilion, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Vomiting
MGE-RG2	CD63	0.524258679	0.000871894	Integral membrane protein	BrainSpLMD|967	OMIM|155740
MGE-RG2	RP11.425L10.1	0.467407979	0.000896704			
MGE-RG2	DGKH	1.329816852	0.000897763	Lipid Kinase	BrainSpLMD|160851;Eurexp|euxassay_009546|dorsal root ganglion, glossopharyngeal IX, neural retina, trigeminal V, vagus X	OMIM|604071
MGE-RG2	POLA1	1.335929644	0.000898945	DNA polymerase	BrainSpLMD|5422	OMIM|312040;HPO|5422|Abnormality of chromosome stability, Abnormality of metabolism/homeostasis, Amyloidosis, Broad eyebrow, Colitis, Corneal scarring, Cryptorchidism, Diarrhea, Failure to thrive in infancy, Generalized reticulate brown pigmentation, Global developmental delay, Hearing impairment, Hemiplegia, Hyperkeratosis, Hypohidrosis, Hypospadias, Inguinal hernia, Intellectual disability, Leukemia, Neoplasm, Opacification of the corneal stroma, Photophobia, Recurrent infection of the gastrointestinal tract, Recurrent pneumonia, Seizures, Spasticity, Urethral stricture, Visual impairment, Visual loss, X-linked inheritance, X-linked recessive inheritance
MGE-RG2	PDIA6	0.935338726	0.000954742	Enzyme: Isomerase	BrainSpLMD|10130	OMIM|611099
MGE-RG2	CRKL	0.921865452	0.000958151	Adapter molecule	BrainSpLMD|1399	OMIM|602007;HPO|1399|Abnormality of earlobe, Absent fingernail, Absent toenail, Clinodactyly of the 5th finger, Deeply set eye, Global developmental delay, Highly arched eyebrow, Intellectual disability, Intrauterine growth retardation, Language impairment, Microcephaly, Neoplasm, Pes planus, Pointed chin, Premature birth, Short stature, Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Underdeveloped nasal alae
MGE-RG2	SNRPC	0.426923748	0.000973122	Ribonucleoprotein	BrainSpLMD|6631	OMIM|603522
MGE-RG2	RPL27	0.29230149	0.000978102	Ribosomal subunit		OMIM|607526;HPO|6155|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Anemia, Arrhythmia, Atrial septal defect, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Macrocytic anemia, Migraine, Pallor, Pulmonic stenosis
MGE-RG2	FAT1	1.662095264	0.000993902	Adhesion molecule	BrainSpLMD|2195;Eurexp|euxassay_013462|axial skeleton, lung, mandible, maxilla, mesenchyme, rest of mesenchyme, sternum, submandibular gland primordium, vibrissa;BrainSpMouseDev|13884	SFARI||Autism, No category;OMIM|600976;COSMIC||oral squamous cell, chemorefractory CLL, head and neck, pancreatic acinar cell carcinoma, pancreatic
MGE-RG2	TNC	0.358197905	0.001007208	Adhesion molecule	BrainSpLMD|3371;Eurexp|euxassay_009501|axial skeleton, basioccipital bone, basisphenoid bone, clavicle, cochlea, cochlear duct, diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, fibula, handplate, humerus, lip, lung, mandible, mantle layer, maxilla, maxillary division, mesenchyme, molar, nasal septum, oesophagus, orbito-sphenoid, palatal shelf, pelvic girdle, penis, pharyngo-tympanic tube, rib, scapula, skeletal muscle, sternum, temporal bone, thymus primordium, tibia, tongue, trigeminal V, vault of skull, ventral grey horn, ventricle, ventricular layer, vibrissa;BrainSpMouseDev|21680	OMIM|187380;COSMIC||SCC, melanoma;HPO|3371|Autosomal dominant inheritance, Hearing impairment
MGE-RG2	MCM9	1.543828951	0.00103686	DNA binding protein	BrainSpLMD|254394	OMIM|610098;HPO|254394|Autosomal recessive inheritance, Decreased body weight, Delayed skeletal maturation, Primary amenorrhea, Short stature
MGE-RG2	NUCKS1	0.68201621	0.001041998	DNA binding protein	BrainSpLMD|64710	OMIM|611912
MGE-RG2	BCAN	1.189487175	0.001048182	Adhesion molecule	BrainSpLMD|63827;Eurexp|euxassay_018187|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|11818	OMIM|600347
MGE-RG2	EEF1A1P9	0.250621418	0.00105734			
MGE-RG2	AFF2	1.764193063	0.001073632	Transcription regulatory protein	BrainSpLMD|2334	SFARI||Autism, 4 - Minimal evidence;OMIM|300806;HPO|2334|Abnormality of metabolism/homeostasis, Aggressive behavior, Agitation, Delayed speech and language development, Epicanthus, Hyperactivity, Impulsivity, Intellectual disability, Obsessive-compulsive behavior, Prominent nasal bridge, X-linked recessive inheritance
MGE-RG2	IQGAP2	1.309443993	0.001101101	GTPase activating protein	BrainSpLMD|10788;Eurexp|euxassay_013405|adrenal gland, incisor, intervertebral disc, lobe, mandible, mesenchyme, metanephros, midgut, oesophagus, skeletal muscle, stomach, thymus primordium, ventricular layer, vertebral axis muscle system, vertebral cartilage condensation	OMIM|605401
MGE-RG2	CTD.2031P19.4	0.345748395	0.001108613			
MGE-RG2	MIS12	0.703875396	0.001121206	Cell cycle control protein	BrainSpLMD|79003	OMIM|609178
MGE-RG2	TIMM10	0.60856569	0.001143761	Chaperone	BrainSpLMD|26519	OMIM|602251
MGE-RG2	PLK4	1.391300312	0.001148223	Serine/threonine kinase	BrainSpLMD|10733;Eurexp|euxassay_003979|Meckel's cartilage, clavicle, cranium, rib, turbinate	OMIM|605031;HPO|10733|Abnormality of dental enamel, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the eyelashes, Absent earlobe, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Autosomal recessive inheritance, Biparietal narrowing, Cachexia, Cataract, Cerebellar atrophy, Cerebral atrophy, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital onset, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Hip dysplasia, Hypertonia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Mild global developmental delay, Narrow face, Nystagmus, Optic atrophy, Pointed chin, Prematurely aged appearance, Protruding ear, Reduced number of teeth, Sandal gap, Scoliosis, Seizures, Short stature, Sloping forehead, Sparse scalp hair, Strabismus, Visual impairment, Wide nasal bridge
MGE-RG2	ZNF121	0.607344631	0.001165138	DNA binding protein	BrainSpLMD|7675	OMIM|194628
MGE-RG2	CCNE2	1.112803375	0.001168606	Cell cycle control protein	BrainSpLMD|9134	OMIM|603775
MGE-RG2	HAUS1	0.769220878	0.001181091	Cell cycle control protein	BrainSpLMD|115106;Eurexp|euxassay_003161|chondrocranium, cortex, incisor, lobe, oesophagus, pancreas, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|608775
MGE-RG2	SRSF6	0.309357615	0.001192388	RNA binding protein	BrainSpLMD|6431;Eurexp|euxassay_012639|pituitary, ventricular layer, vibrissa	OMIM|601944
MGE-RG2	ZNF473	1.403458305	0.001201806	RNA binding protein	BrainSpLMD|25888	
MGE-RG2	HAUS6	1.044651554	0.001203691	Unclassified	BrainSpLMD|54801	OMIM|613433
MGE-RG2	RPS16	0.39252826	0.001207977	Ribosomal subunit	BrainSpLMD|6217	OMIM|603675
MGE-RG2	SOX1	0.710535986	0.001307202	Transcription factor	BrainSpLMD|6656;Eurexp|euxassay_019565|ventral grey horn, ventricular layer	OMIM|602148
MGE-RG2	RP11.473N11.2	1.080257395	0.001323576			
MGE-RG2	MMAB	0.852333154	0.001340868	Enzyme: Adenosyltransferase	BrainSpLMD|326625	OMIM|607568;HPO|326625|Anemia, Autosomal recessive inheritance, Coma, Decreased adenosylcobalamin, Decreased methylmalonyl-CoA mutase activity, Dehydration, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Ketonuria, Ketosis, Lethargy, Metabolic acidosis, Methylmalonic acidemia, Methylmalonic aciduria, Neonatal onset, Neutropenia, Pancytopenia, Respiratory distress, Thrombocytopenia, Vomiting
MGE-RG2	PRDX3	0.682386146	0.001349092	Enzyme: Peroxidase	BrainSpLMD|10935;Eurexp|euxassay_006583|adrenal gland, liver, ovary, thymus primordium, thyroid	OMIM|604769
MGE-RG2	CCDC181	0.849010192	0.001391822	Unclassified	BrainSpLMD|57821;Eurexp|euxassay_004163|3rd ventricle, 4th ventricle, choroid invagination	
MGE-RG2	PDIA3	0.666787809	0.001434598	Enzyme: Isomerase		OMIM|602046
MGE-RG2	NUP43	1.004610126	0.001435718	Transport/cargo protein	BrainSpLMD|348995;Eurexp|euxassay_007275|bladder, cortex, incisor, left lung, liver, mesenchyme, midgut, molar, olfactory, pectoral girdle and thoracic body wall, right lung, thymus primordium	OMIM|608141
MGE-RG2	LSM2	0.637683405	0.001441929	RNA binding protein	BrainSpLMD|57819	OMIM|607282
MGE-RG2	CDK4	0.528804749	0.001442019	Cell cycle control protein	BrainSpLMD|1019;Eurexp|euxassay_018619|ventricular layer	OMIM|123829;COSMIC||melanoma;HPO|1019|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus, Subcutaneous nodule
MGE-RG2	ATP1B3	0.680444896	0.001464213	ATPase	BrainSpLMD|483	OMIM|601867
MGE-RG2	RAD18	1.508977037	0.001500333	DNA binding protein	BrainSpLMD|56852	OMIM|605256
MGE-RG2	SRSF1	0.983338919	0.001528288	RNA binding protein	BrainSpLMD|6426	OMIM|600812
MGE-RG2	PARD3	0.646900334	0.001554262	Adapter molecule	BrainSpLMD|56288;BrainSpMouseDev|60394	OMIM|606745
MGE-RG2	VWA9	1.713881873	0.001558061			
MGE-RG2	SERF2	0.417190698	0.001565382	RNA binding protein	BrainSpLMD|10169;Eurexp|euxassay_007238|cranium	OMIM|605054
MGE-RG2	PBX3	1.072627817	0.001645473	Transcription factor	BrainSpLMD|5090;Eurexp|euxassay_002571|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, pharyngo-tympanic tube, spinal cord;BrainSpMouseDev|18282	OMIM|176312
MGE-RG2	GLUL	0.73175814	0.001677946	Enzyme: Aminotransferase	BrainSpLMD|2752;BrainSpMouseDev|14421	OMIM|138290;HPO|2752|Apnea, Autosomal recessive inheritance, Bradycardia, Brain atrophy, CNS hypomyelination, Depressed nasal bridge, Encephalopathy, Generalized hypotonia, Hyperammonemia, Hyperreflexia, Hypoplasia of the corpus callosum, Low-set ears, Periventricular cysts, Respiratory insufficiency, Seizures, Severe global developmental delay, Skin rash, Subependymal cysts, Ventriculomegaly, Wide nasal bridge
MGE-RG2	HAUS5	0.768784806	0.001732767	Unclassified	BrainSpLMD|23354	OMIM|613432
MGE-RG2	FAM133DP	0.429446842	0.001754866			
MGE-RG2	HSDL2	0.758206557	0.001766566	Unclassified	BrainSpLMD|84263	
MGE-RG2	BLM	1.190187583	0.001785114	DNA binding protein	BrainSpLMD|641	OMIM|604610;COSMIC||leukaemia, lymphoma, skin squamous cell, other tumour types;HPO|641|Abnormality of chromosome stability, Agenesis of maxillary lateral incisor, Autosomal recessive inheritance, Azoospermia, Bronchiectasis, Cafe-au-lait spot, Chromosome breakage, Chronic lung disease, Clinodactyly of the 5th finger, Cryptorchidism, Cutaneous photosensitivity, Decreased fertility in females, Delayed skeletal maturation, Diarrhea, Dolichocephaly, Erythema, Facial telangiectasia in butterfly midface distribution, Hand polydactyly, High pitched voice, Hypertrichosis, Hypoplasia of the zygomatic bone, IgA deficiency, IgG deficiency, IgM deficiency, Intrauterine growth retardation, Leukemia, Lymphoma, Malar flattening, Microcephaly, Narrow face, Postnatal growth retardation, Prominent nose, Protruding ear, Recurrent respiratory infections, Short nose, Short stature, Sinusitis, Specific learning disability, Spotty hyperpigmentation, Spotty hypopigmentation, Squamous cell carcinoma, Syndactyly, Type II diabetes mellitus
MGE-RG2	FAM111A	1.139024555	0.001802781	Unclassified	BrainSpLMD|63901;Eurexp|euxassay_011616|lobe, mandible, maxilla, orbito-sphenoid, thymus primordium, thyroid, ventricular layer	OMIM|615292;HPO|63901|Abnormality of the medullary cavity of the long bones, Anemia, Aniridia, Ankyloglossia, Ascites, Autosomal dominant inheritance, Basal ganglia calcification, Brachydactyly, Congenital cataract, Delayed closure of the anterior fontanelle, Failure to thrive, Flared metaphysis, Global developmental delay, Hydrocephalus, Hypermetropia, Hypocalcemia, Hypoparathyroidism, Hypoplastic spleen, Increased bone mineral density, Macrocephaly, Micropenis, Microphthalmia, Papilledema, Prominent forehead, Retinal calcification, Seizures, Severe short stature, Short stature, Slender long bone, Small for gestational age, Thickened cortex of long bones, Transient hypophosphatemia
MGE-RG2	AC010468.1	0.330909548	0.001805497			
MGE-RG2	NCL	0.628686957	0.001876867	RNA binding protein	BrainSpLMD|4691;Eurexp|euxassay_007121|embryo	OMIM|164035
MGE-RG2	APEX1	0.4045234	0.0019291	DNA repair protein	BrainSpLMD|328;Eurexp|euxassay_005116|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, footplate, glossopharyngeal IX, handplate, hindgut, incisor, liver, lung, mandible, metanephros, midgut, molar, naris, naso-lacrimal duct, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, rectum, respiratory, retina, spinal cord, sternum, stomach, submandibular gland primordium, testis, thoracic, thymus primordium, thyroid, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|107748
MGE-RG2	CDC5L	0.74469158	0.001949603	Cell cycle control protein	BrainSpLMD|988	OMIM|602868
MGE-RG2	HK2	1.342030877	0.001980858	Enzyme: Phosphotransferase	BrainSpLMD|3099	OMIM|601125
MGE-RG2	G2E3	0.320478167	0.002050128	Enzyme: Ligase	BrainSpLMD|55632	OMIM|611299
MGE-RG2	CEBPZ	0.996468388	0.002137118	Transcription regulatory protein	BrainSpLMD|10153;Eurexp|euxassay_014370|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, clavicle, femur, fibula, humerus, metatarsus, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, sternum, tibia, turbinate bones, ulna, vault of skull	OMIM|612828
MGE-RG2	BSG	0.855324523	0.002215499	Cell surface receptor	BrainSpLMD|682	OMIM|109480
MGE-RG2	TSPAN6	0.795399099	0.002218188	Cell surface receptor	BrainSpLMD|7105;Eurexp|euxassay_004870|incisor, mandible, maxilla, molar	OMIM|300191
MGE-RG2	AXL	0.381085627	0.002306806	Receptor tyrosine kinase	BrainSpLMD|558;Eurexp|euxassay_001756|cardiovascular system, gland, head mesenchyme, integumental system, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|26110	OMIM|109135;HPO|558|Autosomal dominant inheritance, Autosomal recessive inheritance, Cryptorchidism, Decreased testicular size, Gynecomastia, Hypogonadotrophic hypogonadism, Micropenis, Primary amenorrhea, Sparse axillary hair, Sparse pubic hair
MGE-RG2	RFC5	1.022889399	0.00241996	DNA binding protein	BrainSpLMD|5985	OMIM|600407
MGE-RG2	GAPDHP1	0.378534963	0.002426628			
MGE-RG2	RPL29	0.338409291	0.002450017	Ribosomal subunit		OMIM|601832
MGE-RG2	PSD3	1.208438691	0.002462811	Guanine nucleotide exchange factor	BrainSpLMD|23362	SFARI||Autism, 4 - Minimal evidence;OMIM|614440
MGE-RG2	ESCO2	0.612804985	0.002485904	Unclassified		OMIM|609353;HPO|157570|Abnormality of cardiovascular system morphology, Abnormality of the metacarpal bones, Absent earlobe, Absent radius, Accessory spleen, Ankle contracture, Aortic valve stenosis, Aplasia of the ulna, Aplasia/Hypoplasia of the thumb, Atrial septal defect, Autosomal recessive inheritance, Bicornuate uterus, Biliary tract abnormality, Blue sclerae, Bowing of the long bones, Brachycephaly, Brachydactyly, Cafe-au-lait spot, Cataract, Cleft eyelid, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Clitoral hypertrophy, Complete duplication of thumb phalanx, Cranial nerve paralysis, Craniosynostosis, Cryptorchidism, Cystic hygroma, Downslanted palpebral fissures, Elbow flexion contracture, Enlarged labia minora, External ear malformation, Fair hair, Frontal encephalocele, Global developmental delay, Hand oligodactyly, High palate, Hip contracture, Horseshoe kidney, Hydrocephalus, Hypertelorism, Hypoplasia of the radius, Hypospadias, Intellectual disability, Intrauterine growth retardation, Knee flexion contracture, Long penis, Low-set ears, Malar flattening, Mesomelic arm shortening, Microcephaly, Micrognathia, Microphthalmia, Midface capillary hemangioma, Narrow naris, Opacification of the corneal stroma, Patent ductus arteriosus, Phocomelia, Polycystic kidney dysplasia, Polyhydramnios, Posteriorly rotated ears, Postnatal growth retardation, Premature birth, Premature separation of centromeric heterochromatin, Proptosis, Proximal placement of thumb, Radial deviation of finger, Radioulnar synostosis, Seizures, Severe intrauterine growth retardation, Shallow orbits, Short neck, Short stature, Short thumb, Sparse hair, Syndactyly, Talipes equinovalgus, Tetraphocomelia, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide nasal bridge, Wormian bones, Wrist flexion contracture
MGE-RG2	DCAF16	0.764254917	0.002504548	Unclassified	BrainSpLMD|54876	
MGE-RG2	RPSAP54	0.305987528	0.00251194			
MGE-RG2	NSRP1	0.510278263	0.002514335	Unclassified	BrainSpLMD|84081	OMIM|616173
MGE-RG2	IGDCC4	0.795085568	0.002564567	Cell surface receptor	BrainSpLMD|57722;Eurexp|euxassay_007736|diaphragm, footplate, handplate, mantle layer, mesenchyme, oesophagus, rest of mesenchyme, skeletal muscle, tongue, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|616810
MGE-RG2	HDAC9	0.598157738	0.002573508	Transcription regulatory protein	BrainSpLMD|9734	OMIM|606543
MGE-RG2	POLI	1.372392005	0.002595035	DNA polymerase	BrainSpLMD|11201	OMIM|605252
MGE-RG2	DYNC2H1	0.617614262	0.002602299	Motor protein	Eurexp|euxassay_014017|olfactory, ventricular layer	OMIM|603297;HPO|79659|Abdominal distention, Abnormal pelvis bone ossification, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Brachydactyly, Cleft upper lip, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypoplasia of penis, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Narrow chest, Postaxial hand polydactyly, Renal hypoplasia, Respiratory insufficiency, Short foot, Short palm, Short ribs, Short thorax, Skeletal dysplasia, Urethrovaginal fistula, Uterus didelphys, Wide nose
MGE-RG2	NR1D2	1.222973828	0.002656275	Nuclear receptor	BrainSpLMD|9975;BrainSpMouseDev|110666	OMIM|602304
MGE-RG2	CLGN	1.518242883	0.002668298	Chaperone	BrainSpLMD|1047	OMIM|601858
MGE-RG2	RPL36	0.335735029	0.00267269	Ribosomal subunit	BrainSpLMD|25873	
MGE-RG2	NUDT5	0.662491959	0.002722249	Enzyme: Hydrolase	BrainSpLMD|11164	OMIM|609230
MGE-RG2	RPS17L	0.431179906	0.002730132			
MGE-RG2	TRIM16	0.530419976	0.002793504	Cytoskeletal protein	BrainSpLMD|10626	OMIM|609505
MGE-RG2	RPL9	0.312283272	0.002897144	Ribosomal subunit	BrainSpLMD|6133	OMIM|603686
MGE-RG2	RPSAP15	0.465689623	0.002897529			
MGE-RG2	SNX4	0.301946426	0.002899711	Transport/cargo protein	BrainSpLMD|8723	OMIM|605931
MGE-RG2	PAM	1.191690789	0.002969851	Enzyme: Oxygenase	BrainSpLMD|5066;Eurexp|euxassay_007685|atrium, axial skeleton, dorsal grey horn, dorsal root ganglion, extrinsic ocular muscle, eyelid, floorplate, glossopharyngeal IX, hindgut, incisor, inner ear, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 4 and 5, lip, mandible, mantle layer, maxilla, medulla, midgut, molar, neural retina, oesophagus, palatal shelf, pancreas, skeletal muscle, stomach, thyroid, trachea, trigeminal V, vagus X, ventricle, ventricular layer, vibrissa	OMIM|170270
MGE-RG2	RPS13	0.391167199	0.00316536	Ribosomal subunit	BrainSpLMD|6207	OMIM|180476
MGE-RG2	CLIC1	0.579954367	0.003174841	Intracellular ligand gated channel	BrainSpLMD|1192	OMIM|602872
MGE-RG2	RPL7A	0.384033348	0.003179656	Ribosomal subunit	Eurexp|euxassay_005917|embryo	OMIM|185640
MGE-RG2	RP11.466H18.1	0.519586026	0.003194789			
MGE-RG2	MRPL24	1.670049697	0.003224449	Ribosomal subunit	BrainSpLMD|79590;Eurexp|euxassay_003446|adenohypophysis, incisor, oesophagus, olfactory, pancreas, respiratory, submandibular gland primordium, testis, thymus primordium, thyroid, vibrissa	OMIM|611836
MGE-RG2	PA2G4	0.811455187	0.003242825	Transcription regulatory protein	BrainSpLMD|5036	OMIM|602145
MGE-RG2	PRC1	0.396375186	0.003270481	Cell cycle control protein	BrainSpLMD|9055	OMIM|603484
MGE-RG2	HNRNPA3	0.305658376	0.003319318	Ribonucleoprotein		OMIM|605372
MGE-RG2	PRIM1	1.087852446	0.003384301	RNA polymerase	BrainSpLMD|5557;Eurexp|euxassay_018061|embryo	OMIM|176635
MGE-RG2	FANCI	1.016025588	0.003390701	Unclassified	BrainSpLMD|55215	OMIM|611360;HPO|55215|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
MGE-RG2	ARHGAP5	0.718929025	0.003408524	GTPase activating protein	BrainSpLMD|394	OMIM|602680;COSMIC||colon cancer, glioma
MGE-RG2	LARP1B	0.349400225	0.003452827	RNA binding protein	BrainSpLMD|55132	
MGE-RG2	NUTF2	0.601774687	0.003527733	Transport/cargo protein	BrainSpLMD|10204;Eurexp|euxassay_015153|basal columns, brain, central nervous system, cerebellum, cerebral cortex, cortex, dermal component, dermis, dorsal root ganglion, drainage component, ear, epidermal component, epithelium, facial VII, floorplate, forebrain, incisor, inner ear, lateral wall, left lung, liver, liver and biliary system, lobe, lower jaw, lung, male, mandible, mantle layer, marginal layer, medullary region, mesenchyme, metanephros, molar, nasal cavity, nervous system, nucleus pulposus, otic capsule, petrous part, physiological umbilical hernia, renal/urinary system, rest of cerebellum, right lung, sublingual gland primordium, submandibular gland primordium, telencephalon, temporal bone, testis, thymus primordium, tooth, trigeminal V, turbinate bones, upper jaw, vagus X, ventricular layer, vibrissa	OMIM|605813
MGE-RG2	PTPN13	1.39008534	0.003538311	Tyrosine phosphatase	BrainSpLMD|5783	OMIM|600267;COSMIC||lung, NSCLC, gastric, peritoneal carcinomatosis, hepatocellular
MGE-RG2	ALG8	1.091921842	0.003627798	Enzyme: Glycosyltransferase	BrainSpLMD|79053	OMIM|608103;HPO|79053|Abnormality of the renal tubule, Cataract, Hepatic failure, Lymphedema
MGE-RG2	LYRM2	0.63068403	0.003735522	Enzyme: Oxidoreductase	BrainSpLMD|57226	
MGE-RG2	10-Sep	1.363948814	0.003800053			
MGE-RG2	CENPC	0.617634649	0.003829522	DNA binding protein	BrainSpLMD|1060	OMIM|117141
MGE-RG2	RP11.169K16.7	0.411202991	0.00390444			
MGE-RG2	SRRM2	0.293084675	0.003926479	RNA binding protein	BrainSpLMD|23524;Eurexp|euxassay_008167|embryo	OMIM|606032
MGE-RG2	BAZ1A	0.771320169	0.003933803	DNA binding protein	BrainSpLMD|11177	OMIM|605680
MGE-RG2	MTCL1	0.574262796	0.004028542	Unclassified	BrainSpLMD|23255;Eurexp|euxassay_013715|axial skeleton, brain, calyces, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, incisor, left lung, mesenchyme, midgut, molar, olfactory, rectum, rest of mesenchyme, retina, right lung, skeletal muscle, spinal cord, stomach, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|615766
MGE-RG2	EXOSC9	0.82976705	0.00406718	Ribonuclease	BrainSpLMD|5393	OMIM|606180
MGE-RG2	EEF1B2P3	1.131211135	0.004117268			
MGE-RG2	SHFM1	0.36249873	0.00413088			
MGE-RG2	RDX	0.441136667	0.004160945	Cytoskeletal associated protein	BrainSpLMD|5962	OMIM|179410;HPO|5962|Autosomal recessive inheritance, Infantile onset, Profound sensorineural hearing impairment
MGE-RG2	RPSA	0.468773739	0.004278346	Cell surface receptor;Ribosomal subunit	BrainSpLMD|3921	OMIM|150370;HPO|3921|Abnormality of abdomen morphology, Abnormality of metabolism/homeostasis, Asplenia, Autosomal dominant inheritance, Autosomal recessive inheritance, Infantile onset
MGE-RG2	DKC1	0.905499808	0.004287457	RNA binding protein	BrainSpLMD|1736	OMIM|300126;HPO|1736|Abnormal blistering of the skin, Abnormality of coagulation, Abnormality of female internal genitalia, Abnormality of neutrophils, Abnormality of the fingernails, Abnormality of the pharynx, Acute myeloid leukemia, Alopecia, Anal mucosal leukoplakia, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Blepharitis, Bone marrow hypocellularity, Carious teeth, Cataract, Cellular immunodeficiency, Cerebellar hypoplasia, Cerebral cortical atrophy, Cirrhosis, Conjunctivitis, Cryptorchidism, Decreased testicular size, Dermal atrophy, Esophageal stenosis, Esophageal stricture, Excessive wrinkled skin, Failure to thrive, Generalized hyperpigmentation, Generalized hypopigmentation of hair, Global developmental delay, Hodgkin lymphoma, Horseshoe kidney, Hyperhidrosis, Hypermelanotic macule, Hyperpigmentation of the skin, Hypertonia, Hypodontia, Hypopigmented skin patches, Hypospadias, Immunodeficiency, Increased lacrimation, Intellectual disability, Intrauterine growth retardation, Leukopenia, Malabsorption, Microcephaly, Myelodysplasia, Nail dystrophy, Optic atrophy, Oral leukoplakia, Osteoporosis, Pancytopenia, Periodontitis, Phimosis, Premature graying of hair, Premature loss of teeth, Pterygium of nails, Pulmonary fibrosis, Recurrent fractures, Recurrent respiratory infections, Restrictive ventilatory defect, Reticulated skin pigmentation, Ridged nail, Rough bone trabeculation, Short stature, Skin ulcer, Sparse eyelashes, Sparse hair, Sparse scalp hair, Split nail, Squamous cell carcinoma, Strabismus, Taurodontia, Telangiectasia of the skin, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis, Ventriculomegaly, X-linked recessive inheritance
MGE-RG2	EIF3E	0.543322501	0.0042952	Translation regulatory protein	BrainSpLMD|3646	OMIM|602210;COSMIC||colorectal
MGE-RG2	CCDC59	1.08702923	0.004465103	Unclassified	BrainSpLMD|29080	
MGE-RG2	RPL41P2	0.482863919	0.004530473			
MGE-RG2	ALDH6A1	0.693973576	0.004625077	Enzyme: Dehydrogenase	BrainSpLMD|4329;Eurexp|euxassay_018815|choroid invagination, naris, nasal septum, otic capsule, turbinate bones, ventricular layer	OMIM|603178;HPO|4329|Abnormal facial shape, Autosomal recessive inheritance, Bulbous nose, Cataract, Delayed myelination, Depressed nasal bridge, Downslanted palpebral fissures, Dystonia, Epicanthus, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Long philtrum, Metabolic acidosis, Microcephaly, Microphthalmia, Muscular hypotonia, Phenotypic variability, Short nose, Tented upper lip vermilion
MGE-RG2	RPL32	0.343054365	0.004625628	Ribosomal subunit		
MGE-RG2	C16orf80	0.89496353	0.004652597			
MGE-RG2	SF3A3	0.799237347	0.004660358	RNA binding protein	BrainSpLMD|10946	OMIM|605596
MGE-RG2	RPL13AP25	0.352081566	0.004806139			
MGE-RG2	RP11.556K13.1	0.437956992	0.005018463			
MGE-RG2	PTPRN2	0.656547328	0.005036121	Receptor tyrosine phosphatase	BrainSpLMD|5799	OMIM|601698
MGE-RG2	ING5	1.083673229	0.005075661	Transcription regulatory protein	BrainSpLMD|84289	OMIM|608525
MGE-RG2	DBF4	0.706246532	0.005216803	Cell cycle control protein	BrainSpLMD|10926;Eurexp|euxassay_012740|ventricular layer	OMIM|604281
MGE-RG2	FOXN3	0.692989721	0.005266762	Cell cycle control protein	BrainSpLMD|1112;BrainSpMouseDev|47216	OMIM|602628
MGE-RG2	HNRNPD	0.516595661	0.005391783	RNA binding protein	BrainSpLMD|3184	OMIM|601324
MGE-RG2	MKI67	1.059489123	0.005570373	Cell cycle control protein	BrainSpLMD|4288	OMIM|176741
MGE-RG2	C1orf35	0.623723142	0.005763868	Unclassified	BrainSpLMD|79169;Eurexp|euxassay_006179|ventricular layer	
MGE-RG2	TMEM194A	0.571406758	0.005818674			
MGE-RG2	EEF1A1P13	0.289490718	0.005905399			
MGE-RG2	INPP5F	0.254637754	0.005967741	Lipid phosphatase	BrainSpLMD|22876;Eurexp|euxassay_008227|ventricle	OMIM|609389
MGE-RG2	PER2	0.469616559	0.006006738	DNA binding protein	BrainSpLMD|8864;Eurexp|euxassay_019474|adrenal gland, larynx, lung, metanephros, olfactory, pancreas, rectum, stomach, testis, thyroid, trachea, urethra, ventricular layer;BrainSpMouseDev|18393	SFARI||Autism, 3 - Suggestive evidence;OMIM|603426;HPO|8864|Autosomal dominant inheritance, Depressivity, Sleep-wake cycle disturbance
MGE-RG2	SNRPB	0.823550125	0.006015349	RNA binding protein	BrainSpLMD|6628	OMIM|182282;HPO|6628|11 pairs of ribs, Abnormality of the dentition, Anomalous rib insertion to vertebrae, Anomalous tracheal cartilage, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Calcaneal epiphyseal stippling, Cleft palate, Cleft soft palate, Clinodactyly of the 5th finger, Conductive hearing impairment, Congenital hip dislocation, Death in infancy, Ectopic kidney, Elbow flexion contracture, Epicanthus, Feeding difficulties, Gastroesophageal reflux, Glossoptosis, High palate, Horseshoe kidney, Intellectual disability, Intrauterine growth retardation, Kyphosis, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Nasal speech, Neonatal respiratory distress, Patent ductus arteriosus, Polyhydramnios, Porencephalic cyst, Posterior rib gap, Posteriorly rotated ears, Postnatal growth retardation, Renal cyst, Scoliosis, Short hard palate, Short humerus, Short stature, Thoracic hypoplasia, Tracheomalacia, Ventricular septal defect, Webbed neck
MGE-RG2	LIN54	1.516143522	0.006122299	Unclassified	BrainSpLMD|132660	OMIM|613367
MGE-RG2	NEDD1	0.862936378	0.006210596	Unclassified	BrainSpLMD|121441;Eurexp|euxassay_017529|ventricular layer	OMIM|600372
MGE-RG2	RPL14P1	0.401893836	0.006237646			
MGE-RG2	STARD9	0.416587209	0.006320742	Unclassified		OMIM|614642
MGE-RG2	NUP153	1.169835897	0.006341718	Transport/cargo protein	BrainSpLMD|9972	OMIM|603948
MGE-RG2	HNRNPC	0.517101865	0.006478618	RNA binding protein		OMIM|164020
MGE-RG2	CHCHD2	0.357433344	0.00652853	Unclassified	BrainSpLMD|51142;Eurexp|euxassay_002441|diaphragm, head mesenchyme, tongue, ventricle, vertebral axis muscle system	OMIM|616244
MGE-RG2	TRMT10B	0.679348523	0.006586923	RNA methyltransferase	BrainSpLMD|158234	
MGE-RG2	HNRNPUL1	0.3097442	0.006719694	RNA binding protein	BrainSpLMD|11100	OMIM|605800
MGE-RG2	HSP90B1	0.540853824	0.006725151	Heat shock protein	BrainSpLMD|7184;Eurexp|euxassay_000099|body-wall mesenchyme, dermis, epidermis, nucleus pulposus	OMIM|191175
MGE-RG2	RPL12	0.462624988	0.006852659	Ribosomal subunit		OMIM|180475
MGE-RG2	BAG4	0.276011497	0.006858452	Adapter molecule	BrainSpLMD|9530;Eurexp|euxassay_008224|naris, oesophagus, olfactory, pituitary, tongue, urethra, ventricle	OMIM|603884
MGE-RG2	RPS13P2	0.394222663	0.00695852			
MGE-RG2	SMAD5	0.3789778	0.007093431	Transcription regulatory protein	BrainSpLMD|4090;Eurexp|euxassay_019553|incisor, lung, mantle layer, metanephros, molar, saccule, spleen primordium, submandibular gland primordium, ventricular layer, vibrissa;BrainSpMouseDev|16899	OMIM|603110
MGE-RG2	ATP5G2	0.718057181	0.007258108			
MGE-RG2	EXOSC8	0.805671629	0.00726797	Ribonuclease	BrainSpLMD|11340	OMIM|606019;HPO|11340|Autosomal recessive inheritance, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Failure to thrive, Feeding difficulties, Global developmental delay, Hearing impairment, Hypoplasia of the corpus callosum, Muscle weakness, Respiratory failure, Spastic tetraparesis, Spinal muscular atrophy, Visual impairment
MGE-RG2	CD99	0.290887208	0.007450668	Unclassified		OMIM|450000
MGE-RG2	KIF22	1.303091354	0.00747283	DNA binding protein	BrainSpLMD|3835	OMIM|603213;HPO|3835|Abnormal calcification of the carpal bones, Abnormality of the patella, Abnormality of the sacrum, Anteverted nares, Autosomal dominant inheritance, Broad distal phalanx of finger, Carpal bone hypoplasia, Caudal interpedicular narrowing, Congenital hip dislocation, Delayed patellar ossification, Delayed phalangeal epiphyseal ossification, Depressed nasal bridge, Dislocated radial head, Enlarged thorax, Flared metaphysis, Flat capital femoral epiphysis, Frontal bossing, Generalized hypotonia, Genu valgum, Global developmental delay, Hip dislocation, Hypoplasia of the capital femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Joint laxity, Kyphosis, Large joint dislocations, Laryngeal stenosis, Laryngotracheomalacia, Long distal phalanx of finger, Long proximal phalanx of finger, Macrocephaly, Malar flattening, Metaphyseal irregularity, Micromelia, Midface retrusion, Nail dysplasia, Narrow femoral neck, Osteoarthritis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Short nose, Short stature, Skeletal dysplasia, Slender distal phalanx of finger, Slender metacarpals, Slender proximal phalanx of finger, Small epiphyses, Soft skin, Spinal dysraphism, Spondyloepimetaphyseal dysplasia, Streaky metaphyseal sclerosis, Wide nose
MGE-RG2	FDPS	0.863900529	0.007486206	Enzyme: Prenyltransferase	BrainSpLMD|2224;Eurexp|euxassay_005185|adenohypophysis, adrenal gland, axial skeleton, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, limb, liver, lung, mandible, maxilla, mesenchyme, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, paraxial mesenchyme, rectum, retina, skeletal muscle, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|134629;HPO|2224|Cutaneous photosensitivity, Porokeratosis
MGE-RG2	PEA15	0.942751102	0.007528614	Transport/cargo protein	BrainSpLMD|8682;Eurexp|euxassay_011580|neural retina, ventral grey horn, ventricular layer	OMIM|603434
MGE-RG2	METAP1D	1.025745987	0.007592633		BrainSpLMD|254042	OMIM|610267
MGE-RG2	RP4.706A16.3	0.334077646	0.007695084			
MGE-RG2	CEP83	0.748471052	0.007890164	Unclassified	BrainSpLMD|51134;Eurexp|euxassay_005968|brain, cervical, cervico-thoracic, cochlea, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, lip, olfactory, oral epithelium, oral region, palatal shelf, spinal cord, submandibular gland primordium, thoracic, thymus primordium, tongue, trigeminal V, utricle, vagus X, vestibulocochlear VIII	OMIM|615847;HPO|51134|Autosomal recessive inheritance, Nephronophthisis, Stage 5 chronic kidney disease, Thickening of the glomerular basement membrane, Tubular atrophy, Tubulointerstitial nephritis
MGE-RG2	NAA50	0.781213847	0.007958972	Enzyme: Acyltransferase	BrainSpLMD|80218	OMIM|610834
MGE-RG2	RP11.742N3.1	0.322268883	0.008030793			
MGE-RG2	LSM6	0.935167197	0.008068236	RNA binding protein	BrainSpLMD|11157	OMIM|607286
MGE-RG2	PNN	0.367298048	0.008273083	Adhesion molecule	BrainSpLMD|5411;BrainSpMouseDev|18712	OMIM|603154
MGE-RG2	ZFAND6	0.842825163	0.00830343	Adapter molecule	BrainSpLMD|54469	OMIM|610183
MGE-RG2	DPH3	0.705784561	0.008311776	Unclassified	BrainSpLMD|285381	OMIM|608959
MGE-RG2	PPIL4	0.644421471	0.008381168	Chaperone	BrainSpLMD|85313	OMIM|607609
MGE-RG2	PABPC1	0.509155127	0.008389931	RNA binding protein	Eurexp|euxassay_005676|embryo	OMIM|604679;COSMIC||HNSCC, biliary tract carcinoma
MGE-RG2	UQCRH	0.682369093	0.008408071	Enzyme: Reductase	Eurexp|euxassay_006525|anterior, axial skeleton, bladder, brain, cortex, epidermis, epithelium, external, footplate, handplate, incisor, inner ear, integumental system, left lung, liver, metanephros, midgut, molar, naso-lacrimal duct, olfactory, pancreas, paraxial mesenchyme, pharyngo-tympanic tube, posterior, rectum, renal/urinary system, rest of mesenchyme, rest of skin, retina, right lung, skeletal muscle, spinal cord, stomach, submandibular gland primordium, thymus primordium, trachea, urethra, vertebral axis muscle system, vibrissa	OMIM|613844
MGE-RG2	RPS3AP5	0.377984808	0.00855253			
MGE-RG2	CCT3	0.761087955	0.008565261	Chaperone	BrainSpLMD|7203	OMIM|600114
MGE-RG2	NME4	1.056306107	0.008830863	Enzyme: Phosphotransferase	BrainSpLMD|4833	OMIM|601818
MGE-RG2	SLC16A1	0.662327035	0.008871957	Membrane transport protein	BrainSpLMD|6566;Eurexp|euxassay_003351|Meckel's cartilage, axial muscle, capsule, clavicle, epidermis, foregut-midgut junction, glomeruli, hindgut, incisor, left lung, lobe, loop, marginal layer, meninges, midgut, molar, nasal septum, olfactory, pancreas, rectum, right lung, submandibular gland primordium, testis, thymus primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|600682;HPO|6566|Autosomal dominant inheritance, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise-induced muscle cramps, Exercise-induced muscle fatigue, Exercise-induced muscle stiffness, Feeding difficulties, Global developmental delay, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability, Ketoacidosis, Ketotic hypoglycemia, Pancreatic islet-cell hyperplasia
MGE-RG2	PCDH19	0.948730336	0.008933313	Adhesion molecule	BrainSpMouseDev|93556	SFARI||Autism, No category;OMIM|300460;HPO|57526|Absence seizures, Aggressive behavior, Ataxia, Atonic seizures, Cutaneous photosensitivity, EEG abnormality, Febrile seizures, Focal clonic seizures, Focal seizures, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Infantile onset, Intellectual disability, Muscular hypotonia, Neurodevelopmental delay, Obtundation status, Pschomotor retardation, Psychosis, Status epilepticus, Tremor, X-linked inheritance
MGE-RG2	CDC37	0.611380909	0.009126828	Chaperone	BrainSpLMD|11140	OMIM|605065
MGE-RG2	SKP2	0.96397167	0.009263828	Ubiquitin proteasome system protein	BrainSpLMD|6502	OMIM|601436
MGE-RG2	NUBPL	0.884757488	0.009312356	Unclassified	BrainSpLMD|80224	OMIM|613621;HPO|80224|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
MGE-RG2	FUT8	0.319566381	0.0093519	Enzyme: Fucosyltransferase	BrainSpLMD|2530	OMIM|602589
MGE-RG2	C14orf23	0.27968425	0.009426744			
MGE-RG2	EIF2S1	0.646142943	0.009524441	Translation regulatory protein	BrainSpLMD|1965;Eurexp|euxassay_012451|cortex, incisor, lobe, lung, mandible, molar, olfactory, orbito-sphenoid, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|603907
MGE-RG2	DUSP10	0.66046073	0.009527849	Enzyme: Phosphatase;Enzyme: Phosphohydrolase	BrainSpLMD|11221	OMIM|608867
MGE-RG2	RFC2	1.184133268	0.009586975	DNA binding protein	BrainSpLMD|5982	OMIM|600404;HPO|5982|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the neck, Anxiety, Arthralgia, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad forehead, Cerebral ischemia, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Dental malocclusion, Depressivity, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Epicanthus, Everted lower lip vermilion, Failure to thrive in infancy, Gait imbalance, Genu valgum, Hallux valgus, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Inguinal hernia, Insomnia, Intellectual disability, Joint stiffness, Kyphosis, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Microcephaly, Microdontia, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Open bite, Overfriendliness, Pelvic kidney, Periorbital edema, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Proteinuria, Protruding ear, Pulmonic stenosis, Redundant skin, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Visual impairment, Wide mouth, Wide nasal bridge
MGE-RG2	MTA3	1.220182615	0.009592673	Transcription regulatory protein	BrainSpLMD|57504;BrainSpMouseDev|78179	OMIM|609050
MGE-RG2	SRSF3	0.321165088	0.009595767	RNA binding protein	BrainSpLMD|6428	OMIM|603364;COSMIC||follicular lymphoma
MGE-RG2	NCAPD3	0.343694566	0.009683308	Unclassified	BrainSpLMD|23310	OMIM|609276
MGE-RG2	TMEM18	1.405730205	0.009779628	Integral membrane protein	BrainSpLMD|129787;Eurexp|euxassay_003177|lower jaw, submandibular gland primordium	OMIM|613220
MGE-RG2	MDK	0.879863944	0.009951189	Cytokine	BrainSpLMD|4192;Eurexp|euxassay_000525|anal region, gut, head mesenchyme, lung, mesenchyme, metanephros, penis, physiological umbilical hernia, spleen primordium, trunk mesenchyme, ventricular layer	OMIM|162096
MGE-RG2	CCT5	0.601274715	0.009953388	Chaperone	BrainSpLMD|22948	OMIM|610150;HPO|22948|Abnormality of the foot, Acral ulceration and osteomyelitis leading to autoamputation of digits, Atrophy of the spinal cord, Autosomal recessive inheritance, Babinski sign, Clonus, Decreased circulating low-density lipoprotein levels, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment, Distal sensory loss of all modalities, Hypocholesterolemia, Infantile onset, Juvenile onset, Peripheral axonal neuropathy, Spastic gait, Spastic paraplegia
MGE-RG2	EIF3M	0.834090637	0.009970333	Unclassified	BrainSpLMD|10480	OMIM|609641
MGE-RG2	ZC3HAV1	0.786844174	0.009975784	-	BrainSpLMD|56829;Eurexp|euxassay_012472|lobe, thymus primordium	OMIM|607312
MGE-div	CDC6	3.042482566	0	Cell cycle control protein	BrainSpLMD|990	OMIM|602627;HPO|990|Abnormality of epiphysis morphology, Abnormality of the ribs, Anotia, Aplastic clavicles, Atresia of the external auditory canal, Autosomal recessive inheritance, Birth length less than 3rd percentile, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Craniosynostosis, Cryptorchidism, Delayed skeletal maturation, Elbow dislocation, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, High, narrow palate, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Intrauterine growth retardation, Irregular femoral epiphysis, Joint hyperflexibility, Long philtrum, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Micropenis, Microtia, Microtia, third degree, Mild global developmental delay, Motor delay, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Prominent metopic ridge, Respiratory distress, Respiratory failure, Retrognathia, Severe short stature, Slender long bone, Small earlobe, Triangular face
MGE-div	SKA3	2.985065101	0	Unclassified	BrainSpLMD|221150;Eurexp|euxassay_011780|brain, choroid invagination, left lung, mantle layer, right lung, ventricle, vertebral axis muscle system	
MGE-div	EXO1	2.977068174	0	DNA exonuclease	BrainSpLMD|9156;Eurexp|euxassay_008408|anterior, bladder, cornea, epithelium, external, footplate, handplate, incisor, left lung, liver, mantle layer, marginal layer, metanephros, midgut, molar, nasal septum, naso-lacrimal duct, olfactory, pancreas, rest of mesenchyme, retina, right lung, skeletal muscle, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|606063
MGE-div	MYBL2	2.977044892	0	Transcription factor	BrainSpLMD|4605;Eurexp|euxassay_002836|incisor, integumental system, lobe, marginal layer, skeleton, thymus primordium, ventricular layer, vibrissa;BrainSpMouseDev|17632	OMIM|601415
MGE-div	CCNE2	2.943050207	0	Cell cycle control protein	BrainSpLMD|9134	OMIM|603775
MGE-div	E2F2	2.853045411	0	Transcription factor	BrainSpLMD|1870;BrainSpMouseDev|88998	OMIM|600426
MGE-div	FAM111B	2.798448874	0	Unclassified	BrainSpLMD|374393	OMIM|615584;HPO|374393|Alopecia, Autosomal dominant inheritance, Elevated serum creatine phosphokinase, Hepatomegaly, Hypohidrosis, Poikiloderma, Skeletal muscle atrophy
MGE-div	DTL	2.791981104	0	Unclassified	BrainSpLMD|51514;Eurexp|euxassay_012578|choroid plexus, ventricular layer	OMIM|610617
MGE-div	CENPU	2.634714565	0	Unclassified	BrainSpLMD|79682	OMIM|611511
MGE-div	CLSPN	2.609787	0	Cell cycle control protein	BrainSpLMD|63967;Eurexp|euxassay_004199|ventricular layer	OMIM|605434
MGE-div	FANCI	2.548894296	0	Unclassified	BrainSpLMD|55215	OMIM|611360;HPO|55215|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
MGE-div	POLQ	2.539017253	0	DNA polymerase	BrainSpLMD|10721	OMIM|604419;COSMIC||oral SCC, breast cancer
MGE-div	MCM10	2.501800238	0	DNA binding protein	BrainSpLMD|55388	OMIM|609357
MGE-div	PCNA	2.494479202	0	Cell cycle control protein	BrainSpLMD|5111;Eurexp|euxassay_005732|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, spinal cord, ventricular layer	OMIM|176740;HPO|5111|Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Conjunctival telangiectasia, Cutaneous photosensitivity, Dysarthria, Dysphagia, Global developmental delay, Muscle weakness, Neurodegeneration, Pes cavus, Photophobia, Progressive, Progressive muscle weakness, Short stature, Unsteady gait
MGE-div	ESCO2	2.432223626	0	Unclassified		OMIM|609353;HPO|157570|Abnormality of cardiovascular system morphology, Abnormality of the metacarpal bones, Absent earlobe, Absent radius, Accessory spleen, Ankle contracture, Aortic valve stenosis, Aplasia of the ulna, Aplasia/Hypoplasia of the thumb, Atrial septal defect, Autosomal recessive inheritance, Bicornuate uterus, Biliary tract abnormality, Blue sclerae, Bowing of the long bones, Brachycephaly, Brachydactyly, Cafe-au-lait spot, Cataract, Cleft eyelid, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Clitoral hypertrophy, Complete duplication of thumb phalanx, Cranial nerve paralysis, Craniosynostosis, Cryptorchidism, Cystic hygroma, Downslanted palpebral fissures, Elbow flexion contracture, Enlarged labia minora, External ear malformation, Fair hair, Frontal encephalocele, Global developmental delay, Hand oligodactyly, High palate, Hip contracture, Horseshoe kidney, Hydrocephalus, Hypertelorism, Hypoplasia of the radius, Hypospadias, Intellectual disability, Intrauterine growth retardation, Knee flexion contracture, Long penis, Low-set ears, Malar flattening, Mesomelic arm shortening, Microcephaly, Micrognathia, Microphthalmia, Midface capillary hemangioma, Narrow naris, Opacification of the corneal stroma, Patent ductus arteriosus, Phocomelia, Polycystic kidney dysplasia, Polyhydramnios, Posteriorly rotated ears, Postnatal growth retardation, Premature birth, Premature separation of centromeric heterochromatin, Proptosis, Proximal placement of thumb, Radial deviation of finger, Radioulnar synostosis, Seizures, Severe intrauterine growth retardation, Shallow orbits, Short neck, Short stature, Short thumb, Sparse hair, Syndactyly, Talipes equinovalgus, Tetraphocomelia, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide nasal bridge, Wormian bones, Wrist flexion contracture
MGE-div	DHFR	2.297790047	0	Enzyme: Oxidoreductase		OMIM|126060;HPO|1719|Absence seizures, Ataxia, Autosomal recessive inheritance, Cerebral atrophy, Delayed myelination, Eyelid myoclonus, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hepatomegaly, Jaundice, Megaloblastic anemia, Pallor, Pancytopenia, Poor head control, Postnatal microcephaly, Thrombocytopenia, Variable expressivity
MGE-div	NDC80	2.287833747	0	Cell cycle control protein	BrainSpLMD|10403;Eurexp|euxassay_006923|embryo	OMIM|607272
MGE-div	HIST1H1B	2.267835537	0	DNA binding protein	BrainSpLMD|3009;Eurexp|euxassay_012857|marginal layer, ventricular layer	OMIM|142711
MGE-div	LMO1	2.25224505	0	Transcription factor	BrainSpLMD|4004;BrainSpMouseDev|73752	OMIM|186921;COSMIC||T-ALL, neuroblastoma, neuroblastoma;HPO|4004|Elevated urinary catecholamines, Neoplasm of the nervous system
MGE-div	BLM	2.250948228	0	DNA binding protein	BrainSpLMD|641	OMIM|604610;COSMIC||leukaemia, lymphoma, skin squamous cell, other tumour types;HPO|641|Abnormality of chromosome stability, Agenesis of maxillary lateral incisor, Autosomal recessive inheritance, Azoospermia, Bronchiectasis, Cafe-au-lait spot, Chromosome breakage, Chronic lung disease, Clinodactyly of the 5th finger, Cryptorchidism, Cutaneous photosensitivity, Decreased fertility in females, Delayed skeletal maturation, Diarrhea, Dolichocephaly, Erythema, Facial telangiectasia in butterfly midface distribution, Hand polydactyly, High pitched voice, Hypertrichosis, Hypoplasia of the zygomatic bone, IgA deficiency, IgG deficiency, IgM deficiency, Intrauterine growth retardation, Leukemia, Lymphoma, Malar flattening, Microcephaly, Narrow face, Postnatal growth retardation, Prominent nose, Protruding ear, Recurrent respiratory infections, Short nose, Short stature, Sinusitis, Specific learning disability, Spotty hyperpigmentation, Spotty hypopigmentation, Squamous cell carcinoma, Syndactyly, Type II diabetes mellitus
MGE-div	CDK2	2.238821176	0	Cell cycle control protein	BrainSpLMD|1017	OMIM|116953
MGE-div	UHRF1	2.232959463	0	DNA binding protein	BrainSpLMD|29128	OMIM|607990
MGE-div	RAD51AP1	2.217640493	0	DNA binding protein	BrainSpLMD|10635;Eurexp|euxassay_010685|ventricular layer	OMIM|603070
MGE-div	CDK6	2.211355683	0	Cell cycle control protein	BrainSpLMD|1021	OMIM|603368;COSMIC||ALL;HPO|1021|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Cortical gyral simplification, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-div	RRM2	2.179242652	0	Cell cycle control protein	BrainSpLMD|6241;Eurexp|euxassay_004733|footplate, handplate, hindbrain, leg, liver, lung, mantle layer, mesenchyme, metanephros, olfactory, retina, spinal cord, tail, ventricular layer, vibrissa	OMIM|180390
MGE-div	NCAPG	2.175135994	0	DNA binding protein	BrainSpLMD|64151;Eurexp|euxassay_013748|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|606280
MGE-div	MCM3	2.162493768	0	DNA binding protein	BrainSpLMD|4172;Eurexp|euxassay_001694|marginal layer, ventricular layer	OMIM|602693
MGE-div	SPC24	2.149534727	0	Cell cycle control protein	BrainSpLMD|147841;Eurexp|euxassay_006353|ventricular layer	OMIM|609394
MGE-div	NUSAP1	2.141545256	0	Cell cycle control protein	BrainSpLMD|51203	OMIM|612818
MGE-div	ZWINT	2.137932538	0	Cell cycle control protein	BrainSpLMD|11130;Eurexp|euxassay_009942|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, valve, vestibulocochlear VIII	OMIM|609177
MGE-div	HIST1H4C	2.087044948	0	DNA binding protein	BrainSpLMD|8364	OMIM|602827
MGE-div	GMNN	2.086672308	0	Cell cycle control protein	BrainSpLMD|51053;Eurexp|euxassay_013652|cortex, incisor, lobe, lung, molar, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|602842;HPO|51053|Abnormality of epiphysis morphology, Abnormality of the ribs, Anotia, Aplastic clavicles, Atresia of the external auditory canal, Autosomal dominant inheritance, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Conductive hearing impairment, Craniosynostosis, Cryptorchidism, Delayed puberty, Delayed skeletal maturation, Depressed nasal ridge, Failure to thrive, Feeding difficulties, Growth hormone deficiency, High, narrow palate, Hip dysplasia, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Microtia, third degree, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Recurrent respiratory infections, Respiratory distress, Respiratory failure, Retrognathia, Severe short stature, Short middle phalanx of finger, Slender long bone, Stenosis of the external auditory canal, Umbilical hernia
MGE-div	KIAA0101	2.080041246	0			
MGE-div	BRIP1	2.04041867	0	DNA helicase	BrainSpLMD|83990;Eurexp|euxassay_013686|cochlea, marginal layer, ventricular layer	OMIM|605882;COSMIC||AML, leukaemia, breast;HPO|83990|Abnormality of chromosome stability, Abnormality of the fallopian tube, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone marrow hypocellularity, Breast carcinoma, Chromosomal breakage induced by crosslinking agents, Esophageal atresia, Global developmental delay, Heterogeneous, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Ovarian neoplasm, Postnatal growth retardation, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
MGE-div	BRCA2	2.030241409	0	Transcription regulatory protein	BrainSpLMD|675;Eurexp|euxassay_019615|ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|600185;COSMIC||breast, ovarian, pancreatic, breast, ovarian, pancreatic, leukaemia  (FANCB, FANCD1);HPO|675|Abdominal pain, Abnormality of chromosome stability, Abnormality of the fallopian tube, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone marrow hypocellularity, Breast carcinoma, Chromosomal breakage induced by crosslinking agents, Esophageal atresia, Global developmental delay, Heterogeneous, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Nephroblastoma, Ovarian neoplasm, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Somatic mutation, Thrombocytopenia, Tracheoesophageal fistula
MGE-div	NKX2.1	2.019027253	0			
MGE-div	HELLS	2.012769624	0	DNA binding protein	BrainSpLMD|3070	OMIM|603946;HPO|3070|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Congenital onset, Decreased antibody level in blood, Depressed nasal bridge, Epicanthus, Global developmental delay, Hypertelorism, Intellectual disability, Lymphopenia, Macrocephaly, Malabsorption, Micrognathia, Recurrent infections, Recurrent respiratory infections, Short stature
MGE-div	FANCD2	2.005852923	0	Cell cycle control protein	BrainSpLMD|2177	OMIM|613984;COSMIC||AML, leukaemia;HPO|2177|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of skin pigmentation, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anemia, Anemic pallor, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bruising susceptibility, Cafe-au-lait spot, Chromosomal breakage induced by crosslinking agents, Complete duplication of thumb phalanx, Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Duplicated collecting system, Ectopic kidney, Esophageal atresia, Global developmental delay, Hearing impairment, Horseshoe kidney, Hypergonadotropic hypogonadism, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukemia, Leukopenia, Microcephaly, Microphthalmia, Neutropenia, Pancytopenia, Prolonged G2 phase of cell cycle, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Reticulocytopenia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Small for gestational age, Strabismus, Thrombocytopenia, Tracheoesophageal fistula
MGE-div	MKI67	1.996378348	0	Cell cycle control protein	BrainSpLMD|4288	OMIM|176741
MGE-div	CASC5	1.989474228	0			
MGE-div	HIST1H1A	1.953659332	0	DNA binding protein	BrainSpLMD|3024	OMIM|142709
MGE-div	MAD2L1	1.951841256	0	Cell cycle control protein	BrainSpLMD|4085	OMIM|601467
MGE-div	FAM111A	1.951651356	0	Unclassified	BrainSpLMD|63901;Eurexp|euxassay_011616|lobe, mandible, maxilla, orbito-sphenoid, thymus primordium, thyroid, ventricular layer	OMIM|615292;HPO|63901|Abnormality of the medullary cavity of the long bones, Anemia, Aniridia, Ankyloglossia, Ascites, Autosomal dominant inheritance, Basal ganglia calcification, Brachydactyly, Congenital cataract, Delayed closure of the anterior fontanelle, Failure to thrive, Flared metaphysis, Global developmental delay, Hydrocephalus, Hypermetropia, Hypocalcemia, Hypoparathyroidism, Hypoplastic spleen, Increased bone mineral density, Macrocephaly, Micropenis, Microphthalmia, Papilledema, Prominent forehead, Retinal calcification, Seizures, Severe short stature, Short stature, Slender long bone, Small for gestational age, Thickened cortex of long bones, Transient hypophosphatemia
MGE-div	ATAD2	1.950441589	0	ATPase	BrainSpLMD|29028;Eurexp|euxassay_012771|ventricular layer	OMIM|611941
MGE-div	SPC25	1.94840121	0	Cell cycle control protein	BrainSpLMD|57405;Eurexp|euxassay_000451|mantle layer, medulla oblongata, ventral grey horn, ventricular layer	OMIM|609395
MGE-div	KIF15	1.946063281	0	Cell cycle control protein	BrainSpLMD|56992	OMIM|617569
MGE-div	CKAP2L	1.926888614	0	Unclassified	BrainSpLMD|150468;Eurexp|euxassay_002011|thymus primordium, ventricular layer	OMIM|616174;HPO|150468|2-4 toe syndactyly, Aphasia, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Broad forehead, Cerebellar atrophy, Clinodactyly of the 5th finger, Cryptorchidism, Decreased body weight, Delayed skeletal maturation, Dysphasia, Dystonia, Echolalia, Finger syndactyly, Frontal bossing, Frontal hirsutism, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Low hanging columella, Microcephaly, Microdontia, Mutism, Optic atrophy, Postnatal growth retardation, Prominent forehead, Prominent nasal bridge, Proptosis, Seizures, Severe short stature, Short philtrum, Single transverse palmar crease, Specific learning disability, Thin vermilion border, Underdeveloped nasal alae, Ventricular septal defect, Visual impairment, Wide nasal bridge, Wide nose
MGE-div	SMC2	1.918165391	0	Unclassified	BrainSpLMD|10592;Eurexp|euxassay_011062|cortex, dorsal grey horn, incisor, lobe, lung, marginal layer, molar, orbito-sphenoid, submandibular gland primordium, thymus primordium, turbinate bones, ventral grey horn, ventricular layer, vibrissa	OMIM|605576
MGE-div	WDR76	1.909178246	0	Unclassified	BrainSpLMD|79968	
MGE-div	HMGB2	1.895819451	0	Transcription regulatory protein	BrainSpLMD|3148;Eurexp|euxassay_019251|incisor, lobe, lung, marginal layer, metanephros, molar, neural retina, oesophagus, pancreas, pituitary, submandibular gland primordium, thymus primordium, thyroid, trachea, turbinate bones, valve, ventricle, ventricular layer, vertebral axis muscle system	OMIM|163906
MGE-div	HMGN2P5	1.890870179	0			
MGE-div	HMGN2	1.819665563	0	Transcription regulatory protein	BrainSpLMD|3151;Eurexp|euxassay_007442|embryo;BrainSpMouseDev|15106	OMIM|163910
MGE-div	RRM1	1.816551681	0	Cell cycle control protein	BrainSpLMD|6240;Eurexp|euxassay_018692|cortex, incisor, lobe, lung, mandible, marginal layer, mesenchyme, molar, neural retina, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|180410
MGE-div	PBK	1.805262855	0	Serine/threonine kinase	BrainSpLMD|55872;Eurexp|euxassay_018747|adrenal gland, cervical, cervico-thoracic, incisor, liver, mandible, marginal layer, maxilla, metanephros, molar, naris, neural retina, olfactory, pancreas, sublingual gland primordium, thoracic, thymus primordium, thyroid, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|611210
MGE-div	HAT1	1.792267505	0	Enzyme: Acyltransferase	BrainSpLMD|8520;Eurexp|euxassay_015562|brain, cerebral cortex, diencephalon, forebrain, hindbrain, liver, lung, medullary region, midbrain, optic II, optic stalk, telencephalon, testis, thymus primordium	OMIM|603053
MGE-div	GLCCI1	1.778139194	0	Unclassified	BrainSpLMD|113263;Eurexp|euxassay_014439|axial skeleton, nasal septum, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|82074	OMIM|614283
MGE-div	KNTC1	1.741697624	0	Cell cycle control protein	BrainSpLMD|9735;Eurexp|euxassay_011295|ventricular layer	OMIM|607363
MGE-div	BIRC5	1.740782416	0	Adapter molecule	BrainSpLMD|332	OMIM|603352
MGE-div	MMS22L	1.70974406	0	Unclassified	BrainSpLMD|253714	OMIM|615614
MGE-div	SMC4	1.709275284	0	Structural protein	BrainSpLMD|10051;Eurexp|euxassay_017379|incisor, liver, lung, metanephros, molar, neural retina, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|605575
MGE-div	RPL21P28	1.708532278	0			
MGE-div	TOP2A	1.698621247	0	Enzyme: Topoisomerase	BrainSpLMD|7153	OMIM|126430;HPO|7153|Elevated urinary catecholamines, Neoplasm of the nervous system
MGE-div	CENPK	1.697259998	0	Unclassified	BrainSpLMD|64105	OMIM|611502
MGE-div	TUBA1B	1.662208438	0	Structural protein	BrainSpLMD|10376	OMIM|602530
MGE-div	ANP32E	1.645176878	0	Unclassified	BrainSpLMD|81611	OMIM|609611
MGE-div	TMPO	1.597866297	0	Peptide hormone	BrainSpLMD|7112	OMIM|188380;HPO|7112|Autosomal dominant inheritance, Dilated cardiomyopathy, Reduced systolic function
MGE-div	DLX1	1.596296664	0	Transcription factor	BrainSpLMD|1745;Eurexp|euxassay_008426|cochlea, epithelium, footplate, handplate, incisor, inner ear, mantle layer, midgut, naso-lacrimal duct, neural retina, oesophagus, paraxial mesenchyme, retina, skeletal muscle, skeleton, stomach, utricle, vibrissa;BrainSpMouseDev|13169	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600029
MGE-div	DEK	1.579219095	0	DNA binding protein	BrainSpLMD|7913	OMIM|125264;COSMIC||AML
MGE-div	KIF11	1.578300644	0	Motor protein	BrainSpLMD|3832	OMIM|148760;HPO|3832|Abnormal toenail morphology, Abnormality of retinal pigmentation, Anteverted nares, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Broad nasal tip, Chorioretinal dysplasia, Cortical gyral simplification, Deep philtrum, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Flat occiput, Global developmental delay, Intellectual disability, Intellectual disability, mild, Leukonychia, Long philtrum, Lymphedema, Mandibular prognathia, Melanonychia, Microcephaly, Muscular hypotonia, Myopia, Protruding ear, Sloping forehead, Specific learning disability, Thick lower lip vermilion, Thin upper lip vermilion
MGE-div	MCM7	1.572011728	0	Unclassified;DNA helicase	BrainSpLMD|4176;Eurexp|euxassay_018019|embryo	OMIM|600592
MGE-div	CDK1	1.528738205	0	Serine/threonine kinase	BrainSpLMD|983	OMIM|116940
MGE-div	USP1	1.517216229	0	Ubiquitin proteasome system protein	BrainSpLMD|7398	OMIM|603478
MGE-div	HMGN2P3	1.458029162	0			
MGE-div	DLEU2	1.40864577	0	Unclassified	BrainSpLMD|8847	OMIM|605766
MGE-div	DLX2	1.391230618	0	Transcription factor	BrainSpLMD|1746;BrainSpMouseDev|13171	SFARI||Autism, 4 - Minimal evidence;OMIM|126255
MGE-div	H2AFZ	1.383047601	0	DNA binding protein	BrainSpLMD|3015	OMIM|142763
MGE-div	HIST1H1C	1.377509882	0	DNA binding protein	BrainSpLMD|3006;Eurexp|euxassay_015954|ventricular layer	OMIM|142710
MGE-div	PRC1	1.348109582	0	Cell cycle control protein	BrainSpLMD|9055	OMIM|603484
MGE-div	CENPF	1.342282789	0	Cell cycle control protein	BrainSpLMD|1063	OMIM|600236
MGE-div	HMGB1	1.296274563	0	DNA binding protein	BrainSpMouseDev|15064	OMIM|163905
MGE-div	TPX2	1.282506324	0	Cell cycle control protein	BrainSpLMD|22974	OMIM|605917
MGE-div	HMGB1P5	1.196999667	0			
MGE-div	RP11.673C5.1	1.13942158	0			
MGE-div	HMGB1P10	1.123487248	0			
MGE-div	PTMAP5	1.016925443	0			
MGE-div	PTTG1	0.929316855	0	Transcription regulatory protein	BrainSpLMD|9232	OMIM|604147
MGE-div	PTMA	0.927494428	0	Unclassified	BrainSpLMD|5757	OMIM|188390
MGE-div	HIST1H3C	0.90277084	0	DNA binding protein	BrainSpLMD|8352	OMIM|602812
MGE-div	IQGAP3	0.853036774	0	GTPase activating protein	BrainSpLMD|128239	SFARI||Autism, 4 - Minimal evidence
MGE-div	ALYREF	0.836281917	0	Chaperone	BrainSpLMD|10189	OMIM|604171
MGE-div	GAPDH	0.784491178	0	Enzyme: Dehydrogenase		OMIM|138400
MGE-div	HMGN2P41	0.777386772	0			
MGE-div	HIST1H3B	0.755598481	0	DNA binding protein	BrainSpLMD|8358	OMIM|602819;COSMIC||glioma
MGE-div	SOX2.OT	0.677762187	0			
MGE-div	HIST1H2BK	0.486495895	0	DNA binding protein	BrainSpLMD|85236	OMIM|615045
MGE-div	E2F7	2.473135676	1.11E-16	Transcription factor	BrainSpLMD|144455;Eurexp|euxassay_011832|cortex, ventricular layer;BrainSpMouseDev|32159	OMIM|612046
MGE-div	GINS2	2.104345273	1.11E-16	Unclassified	BrainSpLMD|51659	OMIM|610609
MGE-div	FBXO5	1.699904188	1.11E-16	Cell cycle control protein	BrainSpLMD|26271;Eurexp|euxassay_012335|marginal layer, ventricular layer	OMIM|606013
MGE-div	CKAP2	1.443575555	1.11E-16	Cytoskeletal associated protein	BrainSpLMD|26586;Eurexp|euxassay_001740|thymus primordium, ventricular layer	OMIM|611569
MGE-div	VRK1	1.36664634	1.11E-16	Serine/threonine kinase	BrainSpLMD|7443	OMIM|602168;HPO|7443|Abnormality of the foot, Ataxia, Autosomal recessive inheritance, Basal ganglia gliosis, Cerebellar hypoplasia, Congenital contracture, Congenital onset, Degeneration of anterior horn cells, EMG: neuropathic changes, Fasciculations, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hyperreflexia, Hypoplasia of the pons, Hypoplasia of the ventral pons, Intellectual disability, Muscle weakness, Neuronal loss in basal ganglia, Progressive, Respiratory insufficiency, Spinal muscular atrophy
MGE-div	CENPE	1.130980269	1.11E-16	DNA binding protein	BrainSpLMD|1062	OMIM|117143;HPO|1062|Abnormality of dental enamel, Absent earlobe, Autosomal recessive inheritance, Cachexia, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Hip dysplasia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Metaphyseal sclerosis, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Partial agenesis of the corpus callosum, Prematurely aged appearance, Prominent nose, Reduced number of teeth, Round face, Sandal gap, Seizures, Short foot, Short stature, Sloping forehead, Small hand, Sparse scalp hair
MGE-div	HMGB1P1	0.899499975	1.11E-16	Transcription regulatory protein		
MGE-div	RP11.386M24.4	1.350628912	2.22E-16			
MGE-div	TRIM59	1.094463628	2.22E-16	Ubiquitin proteasome system protein		OMIM|616148
MGE-div	HIST1H1D	1.871420957	3.33E-16	DNA binding protein	BrainSpLMD|3007;Eurexp|euxassay_000515|marginal layer, ventricular layer	OMIM|142210
MGE-div	MYL6	0.596063879	3.33E-16	Cytoskeletal protein	BrainSpLMD|4637	OMIM|609931
MGE-div	TOX3	1.256571079	4.44E-16	Unclassified	Eurexp|euxassay_006138|cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, pancreas, paraxial mesenchyme, penis, retina, stomach, stroma, tongue, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|89252	OMIM|611416
MGE-div	WEE1	1.128127533	4.44E-16	Dual specificity kinase	BrainSpLMD|7465;Eurexp|euxassay_016462|hindgut, lung, midgut, stomach, submandibular gland primordium, ventricular layer	OMIM|193525
MGE-div	TIMELESS	2.226645092	5.55E-16	Transcription regulatory protein	BrainSpLMD|8914	OMIM|603887
MGE-div	HIST1H4I	0.294067908	5.55E-16	DNA binding protein	BrainSpLMD|8294;Eurexp|euxassay_005924|embryo	OMIM|602833;COSMIC||NHL
MGE-div	NCAPH	2.553149496	7.77E-16	Cell cycle control protein	BrainSpLMD|23397;Eurexp|euxassay_002558|ventricular layer	OMIM|602332
MGE-div	MCM4	1.500521249	1.11E-15	DNA binding protein	BrainSpLMD|4173	SFARI||Autism, 4 - Minimal evidence;OMIM|602638;HPO|4173|Adrenal insufficiency, Autosomal recessive inheritance, Global developmental delay, Hepatomegaly, Intrauterine growth retardation, Lymphadenopathy, Lymphoproliferative disorder, Microcephaly, Postnatal growth retardation, Recurrent respiratory infections, Recurrent viral infections, Splenomegaly
MGE-div	TYMS	1.83379383	1.22E-15	Enzyme: Ligase	BrainSpLMD|7298;Eurexp|euxassay_008886|cardiovascular system, cavities and their linings, gland, integumental system, limb, marginal layer, mesenchyme, sensory organ, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|188350
MGE-div	MIS18BP1	1.078388813	1.55E-15	Transcription regulatory protein	BrainSpLMD|55320;Eurexp|euxassay_004198|ventricular layer	
MGE-div	CDCA7	1.805753026	1.67E-15	Cell cycle control protein	BrainSpLMD|83879	OMIM|609937;HPO|83879|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Conductive hearing impairment, Cryptorchidism, Decreased antibody level in blood, Depressed nasal bridge, Flat face, Global developmental delay, Hypertelorism, Hypoplastic ischia, Hypospadias, Intellectual disability, Intrauterine growth retardation, Low-set ears, Lymphopenia, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Polydactyly, Recurrent respiratory infections, Short nose, Short stature, Strabismus
MGE-div	HMGN2P4	0.702523271	1.67E-15			
MGE-div	H2AFV	1.35377891	2.78E-15	DNA binding protein	BrainSpLMD|94239;Eurexp|euxassay_010704|metanephros, ventricular layer	
MGE-div	UBE2T	1.367812686	2.89E-15	Ubiquitin proteasome system protein	BrainSpLMD|29089;Eurexp|euxassay_004872|olfactory, respiratory, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|610538;HPO|29089|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bone marrow hypocellularity, Duplication of thumb phalanx, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pancytopenia, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Thrombocytopenia
MGE-div	HIST1H1E	1.20590053	4.22E-15	DNA binding protein	BrainSpLMD|3008;Eurexp|euxassay_005923|embryo	OMIM|142220;HPO|3008|Accelerated skeletal maturation, Amblyopia, Astigmatism, Autosomal dominant inheritance, Camptodactyly, Full cheeks, Global developmental delay, Hypertonia, Intellectual disability, Kyphoscoliosis, Macrocephaly, Neonatal hypotonia, Nevus, Strabismus, Talipes equinovarus, Telecanthus
MGE-div	KIAA1524	1.567378424	5.00E-15			
MGE-div	HJURP	1.828346988	6.55E-15	Unclassified	BrainSpLMD|55355	OMIM|612667
MGE-div	PFN2	0.917875447	8.10E-15	Structural protein	BrainSpLMD|5217;Eurexp|euxassay_002518|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|176590
MGE-div	SRSF3	0.541750632	8.10E-15	RNA binding protein	BrainSpLMD|6428	OMIM|603364;COSMIC||follicular lymphoma
MGE-div	HMGB3	1.140843826	1.24E-14	DNA binding protein	BrainSpLMD|3149;BrainSpMouseDev|15129	OMIM|300193;HPO|3149|Abnormality of the pinna, Anteverted ears, Coloboma, Esotropia, Global developmental delay, Intellectual disability, Microcephaly, Microcornea, Microphthalmia, Pendular nystagmus, Ptosis, Short stature, X-linked inheritance
MGE-div	TMSB4X	0.739489536	1.50E-14	Cytoskeletal associated protein		OMIM|300159
MGE-div	SOX2	0.909961143	1.58E-14	Transcription factor	Eurexp|euxassay_019525|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lung, mantle layer, medulla, midgut, neural retina, oesophagus, olfactory, oral epithelium, pituitary, saccule, stomach, testis, trachea, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|20436	OMIM|184429;COSMIC||NSCLC, oesophageal squamous carcinoma, Microphthalmia and oesophageal atresia syndrome;HPO|6657|Agenesis of corpus callosum, Anophthalmia, Anterior pituitary hypoplasia, Autosomal dominant inheritance, Butterfly vertebrae, Cleft palate, Coloboma, Cryptorchidism, Esophageal atresia, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hemivertebrae, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypospadias, Hypothalamic hamartoma, Microcephaly, Micropenis, Microphthalmia, Missing ribs, Nystagmus, Optic nerve hypoplasia, Patent ductus arteriosus, Postnatal growth retardation, Rib fusion, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Short stature, Spastic diplegia, Spastic tetraplegia, Specific learning disability, Strabismus, Supernumerary ribs, Tracheoesophageal fistula, Ventricular septal defect, Vertebral fusion, Vertebral hypoplasia, Visual impairment, Visual loss
MGE-div	BARD1	1.57527728	1.59E-14	Transcription regulatory protein	BrainSpLMD|580	OMIM|601593;COSMIC||breast cancer, ovarian cancer, breast cancer, endometrioid cancer;HPO|580|Abnormality of the fallopian tube, Breast carcinoma, Ovarian neoplasm, Primary peritoneal carcinoma
MGE-div	CEP152	1.977851446	2.12E-14	Unclassified	Eurexp|euxassay_011313|axial skeleton, basioccipital bone, choroid invagination, choroid plexus, epithelium, femur, humerus, inner ear, olfactory, pelvic girdle, pituitary, roof plate, scapula, vomeronasal organ	OMIM|613529;HPO|22995|Abnormal cortical bone morphology, Abnormal cortical gyration, Abnormality of dental enamel, Absent earlobe, Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Bimanual synkinesia, Cachexia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Heterotopia, High palate, Hip dysplasia, Hyperreflexia, Hypodontia, Hypoplasia of the frontal lobes, Impulsivity, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint hyperflexibility, Large beaked nose, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Oligodontia, Pachygyria, Prematurely aged appearance, Prominent nasal bridge, Reduced number of teeth, Retrognathia, Sandal gap, Short stature, Sloping forehead, Sparse scalp hair, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-div	MYBL1	2.193124499	2.52E-14	Transcription regulatory protein	Eurexp|euxassay_019606|adrenal gland, neural retina, olfactory, testis, ventricular layer, vomeronasal organ;BrainSpMouseDev|17631	OMIM|159405
MGE-div	AURKB	1.954839348	4.72E-14	Serine/threonine kinase	BrainSpLMD|9212	OMIM|604970
MGE-div	ORC6	1.629892687	5.16E-14	DNA binding protein	BrainSpLMD|23594;Eurexp|euxassay_007673|cortex, incisor, left, mandible, molar, right, submandibular gland primordium, ventricular layer	OMIM|607213;HPO|23594|Abnormality of epiphysis morphology, Abnormality of the ribs, Absent sternal ossification, Anotia, Aplasia/Hypoplasia of the patella, Aplastic clavicles, Atresia of the external auditory canal, Autosomal recessive inheritance, Birth length less than 3rd percentile, Breast hypoplasia, Bronchomalacia, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Coxa vara, Craniosynostosis, Cryptorchidism, Delayed skeletal maturation, Downslanted palpebral fissures, Dyspnea, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Genu varum, High, narrow palate, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypospadias, Intrauterine growth retardation, Joint hyperflexibility, Laryngomalacia, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Micropenis, Microretrognathia, Microtia, Microtia, third degree, Narrow chest, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Prominent nasal bridge, Recurrent pneumonia, Respiratory distress, Respiratory failure, Retrognathia, Scrotal hypoplasia, Severe short stature, Short ribs, Short thorax, Slender long bone, Talipes equinovarus, Thick lower lip vermilion, Tracheomalacia, Triangular face
MGE-div	TPI1	0.735188848	6.02E-14	Enzyme: Isomerase	BrainSpLMD|7167	OMIM|190450;HPO|7167|Abnormality of immune system physiology, Autosomal recessive inheritance, Central nervous system degeneration, Cholecystitis, Cholelithiasis, Chronic hemolytic anemia, Congestive heart failure, Diaphragmatic paralysis, Dystonia, Generalized hypotonia, Global developmental delay, Hemolytic anemia, Hyporeflexia, Jaundice, Kyphosis, Muscular hypotonia, Myopathy, Normochromic anemia, Normocytic anemia, Peripheral neuropathy, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Splenomegaly, Tremor, Unsteady gait
MGE-div	DIAPH3	1.517050622	7.43E-14	Unclassified	BrainSpLMD|81624;Eurexp|euxassay_012699|incisor, molar, pituitary, submandibular gland primordium, ventricular layer, vibrissa	SFARI||Autism, 5 - Hypothesized but untested;OMIM|614567;HPO|81624|Abnormal auditory evoked potentials, Abnormal speech discrimination, Absence of acoustic reflex, Autosomal dominant inheritance, Sensorineural hearing impairment
MGE-div	NUP50	0.880750391	8.25E-14	Transport/cargo protein	BrainSpLMD|10762	OMIM|604646
MGE-div	MGME1	2.034462902	8.73E-14	Unclassified	BrainSpLMD|92667	OMIM|615076;HPO|92667|Autosomal recessive inheritance, Dysphonia, Dyspnea, Easy fatigability, Elevated serum creatine phosphokinase, Exercise intolerance, Facial palsy, Generalized amyotrophy, Hypergonadotropic hypogonadism, Hyporeflexia, Kyphosis, Nasal speech, Progressive, Progressive external ophthalmoplegia, Proximal amyotrophy, Ptosis, Recurrent infections, Respiratory insufficiency, Spinal deformities, Spinal rigidity
MGE-div	TMEM106C	1.651105139	1.00E-13	Unclassified	BrainSpLMD|79022	
MGE-div	SKA1	1.873034224	1.39E-13	Unclassified	BrainSpLMD|220134	OMIM|616673
MGE-div	XRCC2	2.277850017	1.54E-13	DNA binding protein	BrainSpLMD|7516	OMIM|600375;HPO|7516|Abnormality of chromosome stability, Absent scaphoid, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Global developmental delay, Growth delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Patent ductus arteriosus, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia
MGE-div	SGOL1	1.902924455	1.56E-13			
MGE-div	ILDR2	1.185241639	1.63E-13	Immunoglobulin	BrainSpLMD|387597	
MGE-div	DUT	1.604950036	1.69E-13	Enzyme: Hydrolase	BrainSpLMD|1854	OMIM|601266
MGE-div	FAM64A	1.755021684	2.47E-13			
MGE-div	LIG1	1.519207818	2.49E-13	DNA ligase	BrainSpLMD|3978;Eurexp|euxassay_018504|marginal layer, thymus primordium, ventricular layer	OMIM|126391
MGE-div	DNMT1	1.070405099	2.64E-13	DNA methyltransferase	BrainSpLMD|1786;BrainSpMouseDev|13212	OMIM|126375;HPO|1786|Adult onset, Apathy, Ataxia, Autosomal dominant inheritance, Cataplexy, Cerebellar atrophy, Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers, Dementia, Depressivity, Excessive daytime sleepiness, Excessive daytime somnolence, Hyperreflexia, Hyporeflexia, Impulsivity, Irritability, Memory impairment, Narcolepsy, Osteomyelitis, Primitive reflex, Progressive, Sensorineural hearing impairment, Sensory neuropathy, Spasticity
MGE-div	TMEM123	0.998144677	2.84E-13	Cell surface receptor	BrainSpLMD|114908	OMIM|606356
MGE-div	BRCA1	1.995864215	3.95E-13	Transcription regulatory protein	BrainSpLMD|672;Eurexp|euxassay_019531|incisor, liver, lung, marginal layer, metanephros, molar, olfactory, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|11975	OMIM|113705;COSMIC||ovarian, breast, ovarian;HPO|672|Abdominal distention, Abdominal pain, Abnormality of the fallopian tube, Autosomal dominant inheritance, Breast carcinoma, Constipation, Heterogeneous, Nausea and vomiting, Neoplasm, Ovarian neoplasm, Peritonitis, Primary peritoneal carcinoma
MGE-div	EZH2	1.243347777	4.17E-13	Transcription regulatory protein	BrainSpLMD|2146	OMIM|601573;COSMIC||DLBCL;HPO|2146|Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Absent septum pellucidum, Accelerated skeletal maturation, Autosomal dominant inheritance, Behavioral abnormality, Broad foot, Broad forehead, Broad thumb, Calcaneovalgus deformity, Camptodactyly, Camptodactyly of finger, Clinodactyly, Coxa valga, Cryptorchidism, Cutis laxa, Deep philtrum, Deep-set nails, Delayed speech and language development, Depressed nasal bridge, Diastasis recti, Dilation of lateral ventricles, Dimple chin, Downslanted palpebral fissures, Dysarthria, Dysharmonic bone age, Epicanthus, Feeding difficulties in infancy, Fine hair, Flared femoral metaphysis, Flared humeral metaphysis, Generalized hypotonia, Global developmental delay, Hoarse voice, Hydrocele testis, Hypertelorism, Hypertonia, Hypoplastic iliac wing, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Inverted nipples, Joint contracture of the hand, Joint stiffness, Kyphosis, Large hands, Limited elbow extension, Limited knee extension, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Mandibular prognathia, Metatarsus adductus, Micrognathia, Overlapping toe, Pes cavus, Prominent fingertip pads, Radial deviation of finger, Redundant skin, Retrognathia, Round face, Scoliosis, Seizures, Short fourth metatarsal, Short ribs, Slurred speech, Sparse hair, Spasticity, Strabismus, Talipes equinovarus, Tall stature, Thin nail, Umbilical hernia
MGE-div	NCAPG2	1.735299496	4.83E-13	Unclassified	BrainSpLMD|54892;Eurexp|euxassay_002384|axial muscle, epithelium, lobe, olfactory, ventricular layer	OMIM|608532
MGE-div	TFDP2	1.61108196	1.05E-12	Transcription factor	BrainSpLMD|7029;Eurexp|euxassay_009223|liver, marginal layer, nasal capsule, neural retina, olfactory, ventricular layer;BrainSpMouseDev|84320	OMIM|602160
MGE-div	TUBB	0.640462769	1.14E-12	Cytoskeletal protein	BrainSpLMD|203068	OMIM|191130;HPO|203068|Abnormality of cardiovascular system morphology, Abnormality of the skin, Ataxia, Autosomal dominant inheritance, Blepharophimosis, Brachycephaly, Cerebellar hypoplasia, Cleft palate, Congenital onset, Delayed speech and language development, Edema, Epicanthus, Flat face, Global developmental delay, High palate, Hypertelorism, Hypoplasia of the brainstem, Hypoplastic nipples, Increased number of skin folds, Intellectual disability, Irregular hyperpigmentation, Localized neuroblastoma, Low-set ears, Microcephaly, Motor delay, Narrow mouth, Periorbital fullness, Posteriorly rotated ears, Short neck, Short palpebral fissure, Thickened skin, Wide intermamillary distance
MGE-div	ASF1B	2.076345462	1.24E-12	Chaperone	BrainSpLMD|55723;Eurexp|euxassay_001590|basisphenoid bone, exoccipital bone, lobe, marginal layer, neural retina, orbito-sphenoid, otic capsule, submandibular gland primordium, temporal bone, thymus primordium, ventricular layer, vibrissa	OMIM|609190
MGE-div	CKS1B	1.532705658	1.52E-12	Cell cycle control protein		OMIM|116900
MGE-div	CCND2	1.254621717	2.17E-12	Cell cycle control protein	BrainSpLMD|894	OMIM|123833;COSMIC||NHL, CLL;HPO|894|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Congenital onset, Depressed nasal bridge, Global developmental delay, High forehead, Hydrocephalus, Hypertelorism, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Prominent forehead, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
MGE-div	PTMAP2	0.644218383	2.41E-12			
MGE-div	SPAG5	2.205180188	2.41E-12	Cytoskeletal associated protein	BrainSpLMD|10615	OMIM|615562
MGE-div	PAICS	0.991574963	2.44E-12	Enzyme: Carboxylase	BrainSpLMD|10606;Eurexp|euxassay_018936|marginal layer, nucleus pulposus, submandibular gland primordium, ventricular layer, vibrissa	OMIM|172439
MGE-div	PKM	1.057990821	3.12E-12	Enzyme: Phosphotransferase	BrainSpLMD|5315	OMIM|179050
MGE-div	AHI1	1.393418828	3.33E-12	Adapter molecule	BrainSpLMD|54806;Eurexp|euxassay_005590|brain, cervical, cervico-thoracic, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V;BrainSpMouseDev|32386	SFARI||Autism, No category;OMIM|608894;HPO|54806|Abnormal electroretinogram, Anteverted nares, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Central apnea, Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Enlarged fossa interpeduncularis, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Heterogeneous, Highly arched eyebrow, Intellectual disability, Long face, Low-set ears, Molar tooth sign on MRI, Motor delay, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nystagmus, Oculomotor apraxia, Open mouth, Pigmentary retinopathy, Ptosis, Retinal dystrophy, Stage 5 chronic kidney disease, Visual impairment, Wide nasal bridge
MGE-div	DNA2	1.630102797	3.34E-12	DNA helicase		OMIM|601810;HPO|1763|Autosomal dominant inheritance, Autosomal recessive inheritance, Convex nasal ridge, Ectopic kidney, Elevated serum creatine phosphokinase, Exercise intolerance, Exertional dyspnea, Facial palsy, Gait disturbance, Generalized amyotrophy, Global developmental delay, Gowers sign, Intellectual disability, Kyphoscoliosis, Limb-girdle muscle weakness, Microcephaly, Micrognathia, Muscle cramps, Myalgia, Progressive external ophthalmoplegia, Ptosis, Short stature, Slender build, Slow progression, Spinal cord compression
MGE-div	ASCL1	1.624541516	3.76E-12	Transcription factor	BrainSpLMD|429;BrainSpMouseDev|16941	OMIM|100790;HPO|429|Abnormality of temperature regulation, Abnormality of the cardiovascular system, Abnormality of the mouth, Aganglionic megacolon, Autonomic dysregulation, Autosomal dominant inheritance, Breathing dysregulation, Central hypoventilation, Central sleep apnea, Constipation, Death in infancy, Downslanted palpebral fissures, Dysautonomia, Failure to thrive, Feeding difficulties, Ganglioneuroblastoma, Ganglioneuroma, Gastroesophageal reflux, Hyperhidrosis, Intellectual disability, Low-set ears, Muscular hypotonia, Posteriorly rotated ears, Seizures, Small for gestational age, Strabismus
MGE-div	UBE2C	0.947524117	3.87E-12	Ubiquitin proteasome system protein	BrainSpLMD|11065	OMIM|605574
MGE-div	H2AFY	1.333431468	4.62E-12	DNA binding protein	BrainSpLMD|9555	OMIM|610054
MGE-div	STK39	1.574703008	5.18E-12	Serine/threonine kinase	BrainSpLMD|27347	SFARI||Autism, 4 - Minimal evidence;OMIM|607648
MGE-div	HNRNPA2B1	1.031560065	5.52E-12	Ribonucleoprotein;RNA binding protein	BrainSpLMD|3181	OMIM|600124;COSMIC||prostate;HPO|3181|Abnormality of the skeletal system, Behavioral abnormality, Centrally nucleated skeletal muscle fibers, Elevated serum creatine phosphokinase, Frontotemporal dementia, Muscle fiber atrophy, Muscular dystrophy, Myopathy, Myositis, Skeletal muscle atrophy
MGE-div	STMN1	0.305291614	5.53E-12	Structural protein	BrainSpLMD|3925;Eurexp|euxassay_008627|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|151442
MGE-div	RP11.778D9.4	2.278583923	7.76E-12			
MGE-div	RTKN2	1.344482158	8.18E-12	Unclassified	BrainSpLMD|219790	
MGE-div	RPL23A	0.397600448	8.24E-12	RNA binding protein		OMIM|602326
MGE-div	MND1	1.906539948	9.83E-12	Unclassified	BrainSpLMD|84057	OMIM|611422
MGE-div	RFC4	1.624353014	1.08E-11	DNA binding protein	BrainSpLMD|5984	OMIM|102577
MGE-div	RACGAP1	1.460960184	1.10E-11	GTPase activating protein	BrainSpLMD|29127;Eurexp|euxassay_005572|dorsal grey horn, ventricular layer	OMIM|604980
MGE-div	RBBP8	2.078766092	1.43E-11	Transcription regulatory protein	BrainSpLMD|5932	OMIM|604124;HPO|5932|4-5 toe syndactyly, Abnormality of dental enamel, Absent earlobe, Absent fourth finger distal interphalangeal crease, Aggressive behavior, Autosomal recessive inheritance, Cachexia, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital microcephaly, Convex nasal ridge, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Few cafe-au-lait spots, Glaucoma, Growth delay, Hallux valgus, Heart murmur, Hip dysplasia, Hypospadias, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Microdontia, Microglossia, Micrognathia, Microphthalmia, Mild global developmental delay, Narrow face, Narrow forehead, Prematurely aged appearance, Prominent nose, Reduced number of teeth, Retrognathia, Sandal gap, Short middle phalanx of the 5th finger, Short stature, Single interphalangeal crease of fifth finger, Small for gestational age, Sparse scalp hair, Thoracic scoliosis
MGE-div	RP11.267J23.4	0.636087849	1.45E-11			
MGE-div	RNASEH2B	1.476091994	1.53E-11	Unclassified	BrainSpLMD|79621;Eurexp|euxassay_004223|4th ventricle, liver, lung, thymus primordium, ventricular layer	OMIM|610326;HPO|79621|Arrhinencephaly, Autosomal recessive inheritance, Basal ganglia calcification, Cerebral atrophy, Chronic CSF lymphocytosis, Cleft eyelid, Encephalopathy, Hemiplegia/hemiparesis, Intellectual disability, profound, Porencephalic cyst, Spasticity, Variable expressivity
MGE-div	GLO1	1.434318912	1.63E-11	Enzyme: Lyase	BrainSpLMD|2739	SFARI||Autism, 4 - Minimal evidence;OMIM|138750
MGE-div	KIF4A	1.641453173	1.68E-11	DNA binding protein	BrainSpLMD|24137;Eurexp|euxassay_017959|Meckel's cartilage, chondrocranium, incisor, nasal capsule	OMIM|300521;HPO|24137|Abnormal facial shape, Intellectual disability, Poor speech, Seizures, X-linked recessive inheritance
MGE-div	GTSE1	1.550976453	1.70E-11	Unclassified	BrainSpLMD|51512	OMIM|607477
MGE-div	E2F8	2.359064235	1.71E-11	Transcription factor	BrainSpLMD|79733;BrainSpMouseDev|73120	OMIM|612047
MGE-div	CDCA5	1.960881528	2.20E-11	Unclassified	BrainSpLMD|113130	OMIM|609374
MGE-div	TCF19	1.763956567	2.30E-11	Transcription factor	BrainSpLMD|6941	OMIM|600912
MGE-div	LRR1	2.470582352	2.33E-11	Unclassified	BrainSpLMD|122769	OMIM|609193
MGE-div	CENPJ	1.292674399	2.35E-11	Cytoskeletal protein	BrainSpLMD|55835;Eurexp|euxassay_014821|cortex, incisor, lung, marginal layer, molar, neural retina, olfactory, pituitary, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ	OMIM|609279;HPO|55835|11 pairs of ribs, Abnormal cortical bone morphology, Abnormality of dental enamel, Absent earlobe, Agenesis of corpus callosum, Autosomal recessive inheritance, Cachexia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital onset, Convex nasal ridge, Craniosynostosis, Decreased body weight, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Heterogeneous, Heterotopia, High forehead, Hip dysplasia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Pachygyria, Prematurely aged appearance, Reduced number of teeth, Retrognathia, Sandal gap, Short stature, Sloping forehead, Small cerebral cortex, Sparse scalp hair, Steep acetabular roof, Thin upper lip vermilion, Underdeveloped nasal alae, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-div	FEN1	1.733252181	2.41E-11	Deoxyribonuclease	BrainSpLMD|2237	OMIM|600393;COSMIC||breast cancer
MGE-div	TMSB4XP8	0.670671391	4.33E-11	Cytoskeletal associated protein		
MGE-div	MDK	1.019019812	4.36E-11	Cytokine	BrainSpLMD|4192;Eurexp|euxassay_000525|anal region, gut, head mesenchyme, lung, mesenchyme, metanephros, penis, physiological umbilical hernia, spleen primordium, trunk mesenchyme, ventricular layer	OMIM|162096
MGE-div	PLP2	2.022215764	5.03E-11	Ion channel	BrainSpLMD|5355;Eurexp|euxassay_004091|Meckel's cartilage, cranium, fundus, stomach	OMIM|300112
MGE-div	NUDT1	0.574217915	5.51E-11	Enzyme: Hydrolase	BrainSpLMD|4521	OMIM|600312
MGE-div	RNASEH2A	1.715888268	5.82E-11	Ribonuclease	BrainSpLMD|10535	OMIM|606034;HPO|10535|Arrhinencephaly, Autosomal recessive inheritance, CSF lymphocytic pleiocytosis, Cerebellar atrophy, Cerebral atrophy, Cerebral calcification, Cleft eyelid, Convex nasal ridge, Death in childhood, Dystonia, Elevated hepatic transaminases, Feeding difficulties, Hemiplegia/hemiparesis, Hepatomegaly, Hepatosplenomegaly, Hydrocephalus, Infantile onset, Intellectual disability, profound, Intrauterine growth retardation, Leukodystrophy, Low-set ears, Pancytopenia, Porencephalic cyst, Progressive microcephaly, Severe global developmental delay, Spasticity, Splenomegaly, Thrombocytopenia, Ventriculomegaly
MGE-div	CENPM	1.970902659	7.15E-11	Unclassified	BrainSpLMD|79019	OMIM|610152
MGE-div	DLX6	1.251071708	7.40E-11	Transcription factor	BrainSpLMD|1750;BrainSpMouseDev|13175	SFARI||Autism, 4 - Minimal evidence;OMIM|600030;HPO|1750|Finger syndactyly, Oligodactyly
MGE-div	ASPM	1.089274286	7.82E-11	Unclassified	BrainSpLMD|259266	SFARI||Autism, 3 - Suggestive evidence;OMIM|605481;HPO|259266|Abnormal cortical bone morphology, Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Congenital onset, Cortical gyral simplification, Delayed speech and language development, Global developmental delay, Heterotopia, Highly arched eyebrow, Hyperreflexia, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Motor delay, Narrow forehead, Pachygyria, Proptosis, Short stature, Sloping forehead, Small cerebral cortex, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-div	ATAD5	1.429598197	8.74E-11	DNA repair protein	BrainSpLMD|79915;Eurexp|euxassay_013782|cortex, liver, metanephros, ventricular layer	OMIM|609534
MGE-div	HIST1H2BL	1.366655282	8.83E-11	DNA binding protein		OMIM|602800
MGE-div	BROX	0.495886302	8.85E-11	Unclassified		
MGE-div	PHGDH	1.271499586	8.88E-11	Enzyme: Dehydrogenase	BrainSpLMD|26227	OMIM|606879;HPO|26227|Ablepharon, Abnormality of the philtrum, Absent eyelashes, Absent septum pellucidum, Adducted thumb, Agenesis of corpus callosum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Bifid uterus, Broad foot, Calcaneovalgus deformity, Camptodactyly, Cataract, Cerebellar hypoplasia, Cerebral dysmyelination, Choroid plexus cyst, Cleft palate, Cleft upper lip, Clinodactyly, Congenital cataract, Congenital microcephaly, Cryptorchidism, Dandy-Walker malformation, Decreased fetal movement, Decreased testicular size, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Finger syndactyly, Generalized edema, Growth delay, Hydranencephaly, Hypertelorism, Hypogonadism, Hypsarrhythmia, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Lack of skin elasticity, Large hands, Lissencephaly, Macrogyria, Macrotia, Megaloblastic anemia, Microcephaly, Micrognathia, Micromelia, Microphthalmia, Muscle cramps, Muscular dystrophy, Nystagmus, Opisthotonus, Pachygyria, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Polymicrogyria, Proptosis, Pterygium, Pulmonary hypoplasia, Radial deviation of finger, Renal agenesis, Rocker bottom foot, Seizures, Short neck, Short umbilical cord, Skeletal muscle atrophy, Sloping forehead, Small placenta, Spastic tetraplegia, Spina bifida, Stillbirth, Thick lower lip vermilion, Thick vermilion border, Thrombocytopenia, Toe syndactyly, Transposition of the great arteries, Trismus, Ventricular septal defect, Yellow subcutaneous tissue covered by thin, scaly skin
MGE-div	CIT	1.60360526	9.76E-11	Serine/threonine kinase	BrainSpLMD|11113;Eurexp|euxassay_014352|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, cervical region, clavicle, femur, fibula, humerus, hyoid bone, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, thyroid, tibia, turbinate bones, vault of skull;BrainSpMouseDev|12488	OMIM|605629;HPO|11113|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Bulbous nose, Cerebellar hypoplasia, Congenital onset, Cortical gyral simplification, Failure to thrive, Global developmental delay, Heterotopia, Hyperreflexia, Hypertelorism, Hypoplasia of the brainstem, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Macrotia, Microcephaly, Pachygyria, Renal agenesis, Short stature, Sloping forehead, Spasticity, Thick vermilion border, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vesicoureteral reflux
MGE-div	CHEK1	1.77449351	1.03E-10	Serine/threonine kinase	BrainSpLMD|1111	OMIM|603078
MGE-div	RAB3IP	1.279552189	1.38E-10	Guanine nucleotide exchange factor;Unclassified	BrainSpLMD|117177;Eurexp|euxassay_007883|calyces, hindgut, loop, stomach	OMIM|608686
MGE-div	RPA3	1.502000844	1.45E-10	DNA binding protein	BrainSpLMD|6119	OMIM|179837
MGE-div	TPI1P1	0.685352846	1.48E-10			
MGE-div	EEF1B2P3	1.548090422	1.70E-10			
MGE-div	SFR1	1.540170989	1.83E-10	Unclassified	BrainSpLMD|119392;Eurexp|euxassay_002043|ventricular layer	OMIM|616527
MGE-div	PPIA	0.255659539	1.94E-10	Enzyme: Isomerase	BrainSpLMD|5478	OMIM|123840
MGE-div	HES6	1.21646451	1.99E-10	Transcription regulatory protein	BrainSpLMD|55502;Eurexp|euxassay_018314|head mesenchyme, marginal layer, mesenchyme, molar, neural retina, olfactory, respiratory, retina, skeletal muscle, thymus primordium, trachea, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|35214	OMIM|610331
MGE-div	ITGB3BP	1.356968041	2.16E-10	Transcription regulatory protein	BrainSpLMD|23421	OMIM|605494
MGE-div	CDC45	1.93690444	2.41E-10	Cell cycle control protein	BrainSpLMD|8318;Eurexp|euxassay_006791|choroid plexus, marginal layer, ventricular layer	OMIM|603465;HPO|8318|2-3 toe syndactyly, Abnormality of epiphysis morphology, Abnormality of the ribs, Anal atresia, Anal stenosis, Anotia, Aplasia/Hypoplasia of the patella, Aplastic clavicles, Arnold-Chiari type I malformation, Atresia of the external auditory canal, Atrial septal defect, Autosomal recessive inheritance, Bowing of the legs, Camptodactyly of finger, Choanal atresia, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Clubbing, Complete atrioventricular canal defect, Craniosynostosis, Cryptorchidism, Decreased body weight, Delayed skeletal maturation, Duodenal stenosis, Failure to thrive, Feeding difficulties, Global developmental delay, Hearing impairment, High palate, High, narrow palate, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypospadias, Intrauterine growth retardation, Joint hyperflexibility, Joint laxity, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Micropenis, Microtia, Microtia, third degree, Myopia, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Preaxial polydactyly, Progressive microcephaly, Proptosis, Pulmonary hypoplasia, Respiratory distress, Respiratory failure, Retrognathia, Sagittal craniosynostosis, Scoliosis, Severe short stature, Short stature, Slender long bone, Strabismus, Thin eyebrow, Urethral stricture, Ventricular septal defect, Vesicoureteral reflux, Wide anterior fontanel
MGE-div	NOP56	1.408048095	2.70E-10	Unclassified	BrainSpLMD|10528	OMIM|614154;HPO|10528|Autosomal dominant inheritance, Babinski sign, Cerebellar atrophy, Dysarthria, Gait ataxia, Hyperreflexia, Impaired smooth pursuit, Incoordination, Limb ataxia, Progressive, Slow saccadic eye movements, Tongue atrophy, Tongue fasciculations
MGE-div	TMEM97	1.4935469	3.02E-10	Unclassified	BrainSpLMD|27346;Eurexp|euxassay_006766|axial skeleton, clavicle, cranium, digit 1, digit 2, digit 3, digit 4, digit 5, femur, fibula, handplate, humerus, incisor, liver, mandible, maxilla, naris, pancreas, petrous part, radius, rib, scapula, submandibular gland primordium, tibia, turbinate bones, ulna, vibrissa	OMIM|612912
MGE-div	SUPT16H	1.222487454	3.41E-10	Transcription factor	BrainSpLMD|11198;Eurexp|euxassay_019556|axial skeleton, dorsal grey horn, hindgut, incisor, lobe, lung, marginal layer, metanephros, midgut, olfactory, orbito-sphenoid, pancreas, phalanx, stomach, sublingual gland primordium, thymus primordium, urethra, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|77466	OMIM|605012
MGE-div	MCM8	1.8619369	4.01E-10	DNA binding protein	BrainSpLMD|84515;Eurexp|euxassay_005154|brain, central nervous system, incisor, lung, metanephros, molar, olfactory, retina, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, tongue, vibrissa	OMIM|608187;HPO|84515|Autosomal recessive inheritance, Azoospermia, Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Hypothyroidism, Premature ovarian insufficiency, Primary amenorrhea
MGE-div	RAD54L	2.420320539	4.11E-10	DNA binding protein	BrainSpLMD|8438;Eurexp|euxassay_001626|cortex, incisor, marginal layer, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|603615;HPO|8438|Lymphoma
MGE-div	C19orf48	0.918165977	4.23E-10	Unclassified	BrainSpLMD|84798	
MGE-div	LDHB	0.636598263	4.72E-10	Enzyme: Dehydrogenase	BrainSpLMD|3945	OMIM|150100
MGE-div	NASP	0.874997296	5.19E-10	Cell cycle control protein	BrainSpLMD|4678;Eurexp|euxassay_016401|marginal layer, metanephros, ventricular layer	OMIM|603185
MGE-div	MELK	1.741035962	5.28E-10	Serine/threonine kinase	BrainSpLMD|9833;Eurexp|euxassay_018584|4th ventricle, choroid plexus, clavicle, cortex, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, hindgut, incisor, left, loop, lumen, mandible, mantle layer, maxilla, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, pancreas, rectum, renal/urinary system, respiratory, right, stomach, submandibular gland primordium, testis, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|607025
MGE-div	PSMB2	0.90658799	6.96E-10	Ubiquitin proteasome system protein	BrainSpLMD|5690;Eurexp|euxassay_004563|nucleus pulposus	OMIM|602175
MGE-div	YBX1	0.884082186	7.07E-10	Transcription factor	BrainSpLMD|4904	OMIM|154030
MGE-div	MT.CO2	0.419142139	7.15E-10			
MGE-div	FOXM1	2.554728869	7.18E-10	Transcription factor	BrainSpLMD|2305;BrainSpMouseDev|14012	OMIM|602341
MGE-div	SYNE2	0.797699831	7.54E-10	Cytoskeletal protein	BrainSpLMD|23224;Eurexp|euxassay_010927|cochlea, metanephros, pericardial cavity, peritoneal cavity, renal/urinary system, utricle, ventricular layer	OMIM|608442;HPO|23224|Arrhythmia, Autosomal dominant inheritance, Cardiomyopathy, Childhood onset, Elevated serum creatine phosphokinase, Muscular dystrophy, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Respiratory insufficiency
MGE-div	CHAF1A	1.921943394	8.57E-10	Chaperone	BrainSpLMD|10036	OMIM|601246
MGE-div	CTNNAL1	1.516623	9.00E-10	Unclassified	BrainSpLMD|8727	OMIM|604785
MGE-div	ARHGAP11A	1.402163452	1.03E-09	GTPase activating protein	BrainSpLMD|9824;Eurexp|euxassay_018145|excretory component, hindgut, incisor, mantle layer, marginal layer, meninges, midgut, molar, neural retina, olfactory, stomach, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|610589
MGE-div	TK1	1.615397238	1.05E-09	Enzyme: Phosphotransferase	BrainSpLMD|7083;Eurexp|euxassay_001974|thymus primordium	OMIM|188300
MGE-div	PA2G4P4	1.281638669	1.41E-09			
MGE-div	HSPB11	1.275721971	1.42E-09	Unclassified	BrainSpLMD|51668	
MGE-div	TMSB4XP1	0.655081597	1.49E-09	-	BrainSpLMD|7115	
MGE-div	BEST3	2.189359022	1.73E-09	Integral membrane protein	BrainSpLMD|144453	OMIM|607337
MGE-div	STRIP2	1.125658309	1.93E-09	Unclassified	BrainSpLMD|57464;BrainSpMouseDev|107544	
MGE-div	SMC3	0.986815307	2.28E-09	Unclassified	BrainSpLMD|9126;Eurexp|euxassay_000017|cortex, dorsal root ganglion, heart, larynx, lung, rest of mesenchyme, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|606062;HPO|9126|Abnormality of the cardiac septa, Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Brachydactyly, Bulbous nose, Clinodactyly of the 5th finger, Cognitive impairment, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downturned corners of mouth, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hirsutism, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Limited elbow movement, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phenotypic variability, Phthisis bulbi, Poor speech, Premature birth, Prominent nasal bridge, Proximal placement of thumb, Ptosis, Pulmonic stenosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Synophrys, Thick eyebrow, Thick hair, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Vesicoureteral reflux, Widely spaced teeth
MGE-div	PRPS2	1.043315252	2.46E-09	Enzyme: Ligase	BrainSpLMD|5634	OMIM|311860
MGE-div	SRSF10	0.808905825	3.45E-09	RNA binding protein	Eurexp|euxassay_000064|adenohypophysis, cardiac muscle, endocardial lining, limb, vertebral axis muscle system	OMIM|605221
MGE-div	SERINC5	0.548317483	3.68E-09	Unclassified	BrainSpLMD|256987;Eurexp|euxassay_011506|anterior, clavicle, floor plate, floorplate, incisor, mantle layer, marginal layer, molar, phalanx, thyroid, ventricular layer, vibrissa	OMIM|614551
MGE-div	GLYATL1P2	1.734640877	3.99E-09			
MGE-div	C21orf58	0.992908129	4.71E-09	Unclassified	BrainSpLMD|54058	
MGE-div	MT.ATP6	0.337149439	5.18E-09			
MGE-div	PARP1	1.442343612	5.33E-09	Enzyme: Ribosyltransferase	BrainSpLMD|142	OMIM|173870
MGE-div	KIF2C	1.598657211	6.04E-09	Motor protein	BrainSpLMD|11004;Eurexp|euxassay_003601|4th ventricle, bladder, forebrain, hindbrain, hindlimb, incisor, limb, liver, lung, metanephros, midbrain, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pancreas, penis, pharyngo-tympanic tube, respiratory, retina, spinal cord, submandibular gland primordium, testis, thymus primordium, thyroid, tongue, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|604538
MGE-div	HNRNPD	0.948731985	6.29E-09	RNA binding protein	BrainSpLMD|3184	OMIM|601324
MGE-div	HAUS8	1.36666941	6.31E-09	Unclassified	BrainSpLMD|93323	OMIM|613434
MGE-div	DBF4	1.079845836	6.45E-09	Cell cycle control protein	BrainSpLMD|10926;Eurexp|euxassay_012740|ventricular layer	OMIM|604281
MGE-div	CKS2	0.671062608	6.82E-09	Cell cycle control protein	BrainSpLMD|1164	OMIM|116901
MGE-div	BUB1B	1.827085407	7.00E-09	Serine/threonine kinase	BrainSpLMD|701;Eurexp|euxassay_018755|cortex, ear, hindgut, incisor, lobe, lung, mandible, marginal layer, maxilla, midgut, molar, neural retina, oesophagus, olfactory, orbito-sphenoid, pancreas, rectum, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, trachea, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ, wall	OMIM|602860;COSMIC||rhabdomyosarcoma;HPO|701|Abnormality of vision, Agenesis of corpus callosum, Ambiguous genitalia, Anteverted nares, Ascites, Autosomal recessive inheritance, Bifid scrotum, Brachycephaly, Cataract, Cerebellar hypoplasia, Cerebral hypoplasia, Cleft palate, Combined immunodeficiency, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Epicanthus, Feeding difficulties in infancy, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Glaucoma, Global developmental delay, Hereditary nonpolyposis colorectal carcinoma, High forehead, Hydrocephalus, Hypertelorism, Hypodysplasia of the corpus callosum, Hypospadias, Increased nuchal translucency, Intellectual disability, Intellectual disability, profound, Intrauterine growth retardation, Leukemia, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Muscular dystrophy, Neoplasm of the stomach, Nephroblastoma, Nystagmus, Oligohydramnios, Phenotypic variability, Polyhydramnios, Posteriorly rotated ears, Postnatal growth retardation, Premature chromatid separation, Renal cell carcinoma, Renal cyst, Rhabdomyosarcoma, Severe global developmental delay, Short neck, Short nose, Short stature, Short sternum, Small for gestational age, Transitional cell carcinoma of the bladder, Triangular face, Triangular mouth, Upslanted palpebral fissure, Uterine leiomyosarcoma, Ventriculomegaly, Wide nose
MGE-div	TMEM98	1.292457979	7.06E-09	Integral membrane protein	BrainSpLMD|26022	OMIM|615949;HPO|26022|Abnormality of the choroid, Autosomal dominant inheritance, Glaucoma, High-grade hypermetropia, Microphthalmia, Strabismus
MGE-div	MASTL	1.758381099	8.35E-09	Unclassified	BrainSpLMD|84930;Eurexp|euxassay_000091|liver, otic capsule, thymus primordium, tooth	OMIM|608221;HPO|84930|Autosomal dominant inheritance, Bruising susceptibility, Thrombocytopenia
MGE-div	CDC25C	1.472768332	8.79E-09	Dual specificity phosphatase	BrainSpLMD|995	OMIM|157680
MGE-div	RAN	0.762622262	9.49E-09	GTPase	BrainSpLMD|5901	OMIM|601179
MGE-div	TOPBP1	1.677223925	1.10E-08	Cell cycle control protein;Transcription regulatory protein	BrainSpLMD|11073	OMIM|607760
MGE-div	SALL1	1.496532135	1.71E-08	Transcription factor	BrainSpLMD|6299;Eurexp|euxassay_000198|basal columns, corpus striatum, epithelium, floor plate, floorplate, glomeruli, handplate, head mesenchyme, intermediate grey horn, isthmus, lateral wall, mantle layer, marginal layer, medulla oblongata, mesenchyme, olfactory, pars tuberalis, penis, skin, telencephalon, thyroid, ventral grey horn, ventricular layer;BrainSpMouseDev|37230	OMIM|602218;HPO|6299|2-3 toe syndactyly, 3-4 finger syndactyly, 3-4 toe syndactyly, Anal atresia, Anal stenosis, Anteriorly placed anus, Aplasia/Hypoplasia of the 3rd toe, Autosomal dominant inheritance, Bifid scrotum, Bifid uterus, Broad thumb, Chorioretinal coloboma, Clinodactyly of the 5th finger, Constipation, Cryptorchidism, Duodenal atresia, External ear malformation, Gastroesophageal reflux, Hearing impairment, Hypospadias, Hypothyroidism, Intellectual disability, Macrotia, Metatarsal synostosis, Microcephaly, Microtia, Overfolded helix, Overfolding of the superior helices, Partial duplication of thumb phalanx, Pes planus, Preauricular skin tag, Preaxial hand polydactyly, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Rectovaginal fistula, Renal insufficiency, Satyr ear, Short metatarsal, Stahl ear, Subcutaneous nodule, Tetralogy of Fallot, Toe clinodactyly, Triphalangeal thumb, Umbilical hernia, Urethral valve, Ventricular septal defect
MGE-div	ORC1	2.136332427	1.77E-08	DNA binding protein	BrainSpLMD|4998	OMIM|601902;HPO|4998|Abnormality of epiphysis morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the ribs, Absent glenoid fossa, Absent sternal ossification, Anotia, Aplasia/Hypoplasia of the patella, Aplastic clavicles, Atresia of the external auditory canal, Autosomal recessive inheritance, Birth length less than 3rd percentile, Blepharophimosis, Breast hypoplasia, Breech presentation, Camptodactyly, Camptodactyly of finger, Cleft palate, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Craniosynostosis, Cryptorchidism, Cutaneous finger syndactyly, Delayed skeletal maturation, Elbow dislocation, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat glenoid fossa, Frontal bossing, Gastroesophageal reflux, Genu valgum, Genu varum, Hearing impairment, Hemivertebrae, Heterogeneous, High palate, High, narrow palate, Hyperconvex nail, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Incomplete partition of the cochlea type II, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Joint hyperflexibility, Joint laxity, Lateral clavicle hook, Long eyelashes, Low-set ears, Mandibular aplasia, Microcephaly, Microdontia, Micrognathia, Micropenis, Microtia, Microtia, third degree, Narrow mouth, Patellar aplasia, Pectus carinatum, Posteriorly rotated ears, Respiratory distress, Respiratory failure, Retrognathia, Severe short stature, Shawl scrotum, Short palm, Short palpebral fissure, Short ribs, Slender long bone, Small anterior fontanelle, Small for gestational age, Small hand, Strabismus, Talipes equinovarus, Thick lower lip vermilion, Thin ribs, Thin skin
MGE-div	KIF22	1.555378229	1.95E-08	DNA binding protein	BrainSpLMD|3835	OMIM|603213;HPO|3835|Abnormal calcification of the carpal bones, Abnormality of the patella, Abnormality of the sacrum, Anteverted nares, Autosomal dominant inheritance, Broad distal phalanx of finger, Carpal bone hypoplasia, Caudal interpedicular narrowing, Congenital hip dislocation, Delayed patellar ossification, Delayed phalangeal epiphyseal ossification, Depressed nasal bridge, Dislocated radial head, Enlarged thorax, Flared metaphysis, Flat capital femoral epiphysis, Frontal bossing, Generalized hypotonia, Genu valgum, Global developmental delay, Hip dislocation, Hypoplasia of the capital femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Joint laxity, Kyphosis, Large joint dislocations, Laryngeal stenosis, Laryngotracheomalacia, Long distal phalanx of finger, Long proximal phalanx of finger, Macrocephaly, Malar flattening, Metaphyseal irregularity, Micromelia, Midface retrusion, Nail dysplasia, Narrow femoral neck, Osteoarthritis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Short nose, Short stature, Skeletal dysplasia, Slender distal phalanx of finger, Slender metacarpals, Slender proximal phalanx of finger, Small epiphyses, Soft skin, Spinal dysraphism, Spondyloepimetaphyseal dysplasia, Streaky metaphyseal sclerosis, Wide nose
MGE-div	DSN1	2.21933801	2.07E-08	Unclassified	BrainSpLMD|79980;Eurexp|euxassay_001983|ventricular layer	OMIM|609175
MGE-div	EXOSC9	1.270923397	2.13E-08	Ribonuclease	BrainSpLMD|5393	OMIM|606180
MGE-div	SHFM1	0.585521141	2.21E-08			
MGE-div	KIF18A	1.900610231	2.21E-08	Motor protein	BrainSpLMD|81930	OMIM|611271
MGE-div	SET	0.627181755	2.28E-08	MHC complex protein	BrainSpLMD|6418;Eurexp|euxassay_006723|embryo	OMIM|600960;COSMIC||T-ALL
MGE-div	MBIP	1.37233989	2.33E-08	Unclassified	BrainSpLMD|51562;Eurexp|euxassay_005376|lung	OMIM|609431
MGE-div	SACS	0.994428192	2.43E-08	Unclassified	BrainSpLMD|26278;Eurexp|euxassay_014163|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|604490;HPO|26278|Absent Achilles reflex, Autosomal recessive inheritance, Babinski sign, Cerebellar vermis atrophy, Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Dysmetria, Falls, Hammertoe, Hypermyelinated retinal nerve fibers, Hyperreflexia, Impaired smooth pursuit, Impaired vibration sensation in the lower limbs, Infantile onset, Intellectual disability, Loss of Purkinje cells in the cerebellar vermis, Nystagmus, Pes cavus, Progressive gait ataxia, Progressive truncal ataxia, Scanning speech, Spastic ataxia, Spasticity, Swan neck-like deformities of the fingers, Urinary urgency
MGE-div	ANLN	1.123866929	2.45E-08	Structural protein	BrainSpLMD|54443;Eurexp|euxassay_004352|ventricular layer	OMIM|616027;HPO|54443|Autosomal dominant inheritance, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease
MGE-div	TMSB15A	0.753642137	2.69E-08	Unclassified	BrainSpLMD|11013	OMIM|300939
MGE-div	FRMD5	1.819710683	2.78E-08	Integral membrane protein	BrainSpLMD|84978;Eurexp|euxassay_010946|atrium, bladder, brain, calyces, cervical, cervico-thoracic, collecting ducts, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, left lung, medulla, mesenchyme, mesentery, midgut, molar, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, peritoneal cavity, rectum, retina, right lung, spinal cord, stomach, thoracic, trachea, trigeminal V, urethra, vagus X, ventricle, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|616309
MGE-div	SNRPG	0.779955145	3.00E-08	Ribonucleoprotein	Eurexp|euxassay_001471|cervical, cervico-thoracic, cortex, thoracic, thymus primordium, ventricular layer	OMIM|603542
MGE-div	NUF2	1.505620631	3.00E-08	Cytoskeletal associated protein;Cell cycle control protein	BrainSpLMD|83540	OMIM|611772
MGE-div	PA2G4	1.088223458	3.12E-08	Transcription regulatory protein	BrainSpLMD|5036	OMIM|602145
MGE-div	MCM2	1.454586407	3.74E-08	DNA binding protein	BrainSpLMD|4171;Eurexp|euxassay_009158|brain, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nerve, sensory organ, spinal cord, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|116945;HPO|4171|Autosomal dominant inheritance, Progressive sensorineural hearing impairment, Slow progression, Variable expressivity
MGE-div	LSM3	0.861294691	3.75E-08	RNA binding protein	BrainSpLMD|27258	OMIM|607283
MGE-div	SNRPB	1.324511114	3.76E-08	RNA binding protein	BrainSpLMD|6628	OMIM|182282;HPO|6628|11 pairs of ribs, Abnormality of the dentition, Anomalous rib insertion to vertebrae, Anomalous tracheal cartilage, Atresia of the external auditory canal, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Bell-shaped thorax, Calcaneal epiphyseal stippling, Cleft palate, Cleft soft palate, Clinodactyly of the 5th finger, Conductive hearing impairment, Congenital hip dislocation, Death in infancy, Ectopic kidney, Elbow flexion contracture, Epicanthus, Feeding difficulties, Gastroesophageal reflux, Glossoptosis, High palate, Horseshoe kidney, Intellectual disability, Intrauterine growth retardation, Kyphosis, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Nasal speech, Neonatal respiratory distress, Patent ductus arteriosus, Polyhydramnios, Porencephalic cyst, Posterior rib gap, Posteriorly rotated ears, Postnatal growth retardation, Renal cyst, Scoliosis, Short hard palate, Short humerus, Short stature, Thoracic hypoplasia, Tracheomalacia, Ventricular septal defect, Webbed neck
MGE-div	HMGN5	1.286791333	3.86E-08	Transcription regulatory protein	BrainSpLMD|79366;BrainSpMouseDev|30371	OMIM|300385
MGE-div	CNBP	0.538797296	3.93E-08	RNA binding protein	BrainSpLMD|7555	OMIM|116955;COSMIC||aneurysmal bone cyst;HPO|7555|Autosomal dominant inheritance, Cataract, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, Elevated serum creatine phosphokinase, Frontal balding, Hypogonadism, IgG deficiency, IgM deficiency, Insulin insensitivity, Iridescent posterior subcapsular cataract, Myalgia, Myotonia, Neck flexor weakness, Oligospermia, Palpitations, Proximal muscle weakness, Tachycardia, Type 2 muscle fiber atrophy
MGE-div	FADS1	0.927212504	4.24E-08	Enzyme: Oxidoreductase	BrainSpLMD|3992;Eurexp|euxassay_000686|adrenal gland, testis	OMIM|606148
MGE-div	DBI	0.350978149	5.53E-08	Ligand	BrainSpLMD|1622;BrainSpMouseDev|12947	OMIM|125950
MGE-div	SAE1	1.068530626	5.55E-08	Enzyme: Ligase	BrainSpLMD|10055;Eurexp|euxassay_005976|embryo	SFARI||Autism, No category;OMIM|613294
MGE-div	TMX1	1.021155154	6.12E-08	Enzyme: Oxidoreductase	BrainSpLMD|81542	OMIM|610527
MGE-div	GNG5	0.627249867	6.18E-08	G protein	BrainSpLMD|2787;Eurexp|euxassay_007798|embryo	OMIM|600874
MGE-div	CENPN	1.906594563	6.40E-08	Unclassified	BrainSpLMD|55839	OMIM|611509
MGE-div	HIST1H2BD	0.270634808	6.55E-08	DNA binding protein	BrainSpLMD|3017	OMIM|602799
MGE-div	HNRNPF	1.190048088	6.75E-08	Ribonucleoprotein	BrainSpLMD|3185	OMIM|601037
MGE-div	SMC1A	0.643615513	6.98E-08	Cell cycle control protein	BrainSpLMD|8243	SFARI||Autism, No category;OMIM|300040;COSMIC||AML, Cornelia de Lange syndrome;HPO|8243|Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Brachydactyly, Clinodactyly, Clinodactyly of the 5th finger, Cognitive impairment, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downslanted palpebral fissures, Downturned corners of mouth, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hirsutism, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Limited elbow movement, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Narrow forehead, Neurological speech impairment, Obsessive-compulsive behavior, Phthisis bulbi, Poor speech, Premature birth, Prominent nasal bridge, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Smooth philtrum, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Ventriculomegaly, Vesicoureteral reflux, Widely spaced teeth, X-linked dominant inheritance, X-linked recessive inheritance
MGE-div	ARF6	0.90701638	7.30E-08	Transport/cargo protein	BrainSpLMD|382;BrainSpMouseDev|11632	OMIM|600464
MGE-div	SNRPGP2	0.969920847	7.71E-08			
MGE-div	ZSWIM5	1.542244673	7.92E-08	Unclassified		SFARI||Autism, 6 - Evidence does not support role
MGE-div	ACAA2	1.194290063	8.34E-08	Enzyme: Acyltransferase	BrainSpLMD|10449;Eurexp|euxassay_018546|bladder, choroid invagination, choroid plexus, epidermis, epithelium, liver, oral epithelium, roof plate, vibrissa	OMIM|604770
MGE-div	CCDC15	1.939430825	8.58E-08	Unclassified	BrainSpLMD|80071	
MGE-div	H3F3A	0.628468692	8.93E-08	DNA binding protein		OMIM|601128;COSMIC||glioma
MGE-div	SCARNA22	0.511856449	9.43E-08			
MGE-div	ZNF367	1.851624745	1.09E-07	DNA binding protein	BrainSpLMD|195828	OMIM|610160
MGE-div	PLK4	1.68079581	1.10E-07	Serine/threonine kinase	BrainSpLMD|10733;Eurexp|euxassay_003979|Meckel's cartilage, clavicle, cranium, rib, turbinate	OMIM|605031;HPO|10733|Abnormality of dental enamel, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the eyelashes, Absent earlobe, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Autosomal recessive inheritance, Biparietal narrowing, Cachexia, Cataract, Cerebellar atrophy, Cerebral atrophy, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital onset, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Hip dysplasia, Hypertonia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Mild global developmental delay, Narrow face, Nystagmus, Optic atrophy, Pointed chin, Prematurely aged appearance, Protruding ear, Reduced number of teeth, Sandal gap, Scoliosis, Seizures, Short stature, Sloping forehead, Sparse scalp hair, Strabismus, Visual impairment, Wide nasal bridge
MGE-div	MZT2B	0.556055677	1.24E-07	Unclassified	BrainSpLMD|80097	OMIM|613450
MGE-div	WWOX	1.534186704	1.29E-07	Enzyme: Oxidoreductase	BrainSpLMD|51741	SFARI||Autism, 3 - Suggestive evidence;OMIM|605131;HPO|51741|Abnormal sex determination, Abnormality of the labia, Abnormality of the scrotum, Abnormality of the voice, Ambiguous genitalia, Autosomal recessive inheritance, Azoospermia, Cerebellar atrophy, Chest pain, Clinodactyly of the 5th toe, Clitoral hypertrophy, Cough, Cryptorchidism, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Dysarthria, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Epileptic encephalopathy, Esophageal carcinoma, Feeding difficulties in infancy, Female external genitalia in individual with 46,XY karyotype, Gait ataxia, Gaze-evoked nystagmus, Global developmental delay, Gonadal dysgenesis, Gynecomastia, Hypergonadotropic hypogonadism, Hyperreflexia, Hypokinesia, Hypoplasia of the vagina, Hyporeflexia, Hypospadias, Intellectual disability, Limb ataxia, Male infertility, Microcephaly, Micropenis, Muscular hypotonia of the trunk, Nausea and vomiting, Osteoporosis, Primary amenorrhea, Progressive microcephaly, Rigidity, Seizures, Sparse axillary hair, Sparse pubic hair, Spasticity, Streak ovary, Urogenital sinus anomaly, Vanishing testis, Variable expressivity
MGE-div	RFC5	1.674501617	1.36E-07	DNA binding protein	BrainSpLMD|5985	OMIM|600407
MGE-div	PPA2	1.493787966	1.38E-07	Enzyme: Phosphatase	BrainSpLMD|27068	OMIM|609988;HPO|27068|Autosomal recessive inheritance, Bradycardia, Congestive heart failure, Myocardial fibrosis, Myocarditis
MGE-div	TMEM194A	1.472213427	1.43E-07			
MGE-div	HMGN2P17	0.288667741	1.48E-07			
MGE-div	CENPO	0.827809543	1.50E-07	Unclassified	BrainSpLMD|79172;Eurexp|euxassay_000072|Meckel's cartilage, basal plate, chondrocranium, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, molar, olfactory, submandibular gland primordium, testis, thymus primordium, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|611504
MGE-div	KIF14	1.625751985	1.54E-07	Motor protein	BrainSpLMD|9928	OMIM|611279;HPO|9928|Agenesis of corpus callosum, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral hypoplasia, Intrauterine growth retardation, Microcephaly, Oligohydramnios, Renal agenesis, Renal hypoplasia, Rocker bottom foot, Sloping forehead
MGE-div	NCAPD2	1.548209043	1.56E-07	DNA binding protein	BrainSpLMD|9918;Eurexp|euxassay_005651|embryo	OMIM|615638
MGE-div	DDIAS	1.797556684	1.67E-07	Unclassified	BrainSpLMD|220042	
MGE-div	CHD7	0.508283239	1.76E-07	DNA binding protein	Eurexp|euxassay_010758|marginal layer, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|608892;HPO|55636|Abnormality of body height, Abnormality of female internal genitalia, Abnormality of lymphocytes, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Alopecia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bifid scrotum, Breast hypoplasia, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Desquamation of skin soon after birth, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysphagia, Edema, Eosinophilia, Erectile abnormalities, Erythroderma, Esophageal atresia, Eunuchoid habitus, External ear malformation, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Female hypogonadism, Fever, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Hepatomegaly, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphopenia, Malar flattening, Male hypogonadism, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Non-obstructive azoospermia, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Pneumonia, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Secondary amenorrhea, Sensorineural hearing impairment, Severe combined immunodeficiency, Sparse body hair, Splenomegaly, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Thickened skin, Tracheoesophageal fistula, Umbilical hernia, Ventricular septal defect, Wide intermamillary distance
MGE-div	RPA2	1.042377912	1.81E-07	DNA binding protein	BrainSpLMD|6118;Eurexp|euxassay_004500|marginal layer, ventricular layer	OMIM|179836
MGE-div	PMAIP1	1.037790757	1.99E-07	Unclassified	BrainSpLMD|5366	OMIM|604959
MGE-div	TRA2B	0.676715077	2.06E-07	RNA binding protein	BrainSpLMD|6434	OMIM|602719
MGE-div	MT.TP	0.569331753	2.41E-07			
MGE-div	CDCA3	1.503058349	2.63E-07	Unclassified	BrainSpLMD|83461;Eurexp|euxassay_004852|cortex, left, marginal layer, mesenchyme, olfactory, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventral grey horn, ventricular layer	OMIM|607749
MGE-div	CENPQ	1.177040492	2.69E-07	Unclassified	BrainSpLMD|55166	OMIM|611506
MGE-div	SLC25A5	0.781882618	2.83E-07	Integral membrane protein		OMIM|300150
MGE-div	CDCA7L	0.509036132	2.90E-07	Transcription factor	BrainSpLMD|55536;Eurexp|euxassay_003467|adenohypophysis, epidermis, fundus region, glomeruli, hindgut, left lung, lobe, lumen, lung, marginal layer, midgut, neural retina, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, respiratory, right lung, stomach, submandibular gland primordium, testis, thymus primordium, trachea, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|85297	OMIM|609685
MGE-div	AC016708.2	0.625472094	2.93E-07			
MGE-div	HADH	1.507231682	3.00E-07	Enzyme: Dehydrogenase	BrainSpLMD|3033;Eurexp|euxassay_018543|adrenal gland, liver, lung, midgut, orbito-sphenoid, stomach, sublingual gland primordium, testis, thymus primordium, thyroid, trachea, turbinate, ventricular layer	OMIM|601609;HPO|3033|Abnormality of acetylcarnitine metabolism, Autosomal recessive inheritance, Confusion, Decreased activity of 3-hydroxyacyl-CoA dehydrogenase, Diarrhea, Dicarboxylic aciduria, Dilated cardiomyopathy, Elevated hepatic transaminases, Fasting hyperinsulinemia, Feeding difficulties in infancy, Fulminant hepatic failure, Growth delay, Hepatic necrosis, Hepatic steatosis, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, Hypoglycemic coma, Hypoglycemic encephalopathy, Hypoglycemic seizures, Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level, Intellectual disability, Intrauterine growth retardation, Lethargy, Muscular hypotonia, Myoglobinuria, Neonatal hypoglycemia, Neonatal hypotonia, Phenotypic variability, Proportionate short stature, Vomiting
MGE-div	PRIM1	1.51685454	3.05E-07	RNA polymerase	BrainSpLMD|5557;Eurexp|euxassay_018061|embryo	OMIM|176635
MGE-div	ANAPC11	0.694263109	3.13E-07	Enzyme: Ligase	BrainSpLMD|51529	OMIM|614534
MGE-div	CTC.575D19.1	0.622835909	3.21E-07			
MGE-div	POLE	1.099336432	3.22E-07	DNA polymerase	BrainSpLMD|5426	OMIM|174762;COSMIC||colorectal carcinoma, endometrioid carcinoma, stomach carcinoma, skin cancer, colorectal cancer susceptibility, FILS syndrome;HPO|5426|Abnormal facial shape, Autosomal recessive inheritance, Broad forehead, Congenital onset, Immunodeficiency, Malar flattening, Recurrent respiratory infections, Relative macrocephaly, Short stature, Telangiectases of the cheeks
MGE-div	ERI2	2.133264702	3.27E-07	Unclassified	BrainSpLMD|112479	
MGE-div	LMNB1	1.224079079	3.29E-07	Structural protein	BrainSpLMD|4001;Eurexp|euxassay_015910|axial skeleton, incisor, lung, marginal layer, metanephros, sublingual gland primordium, thymus primordium, thyroid, trachea, ventricular layer, vertebral axis muscle system	OMIM|150340;HPO|4001|Abnormal pyramidal signs, Abnormality of the urinary system, Adult onset, Ataxia, Autonomic bladder dysfunction, Autonomic erectile dysfunction, Autosomal dominant inheritance, Babinski sign, Constipation, Corpus callosum atrophy, Decreased sweating due to autonomic dysfunction, Depressivity, Diffuse leukoencephalopathy, Dilatation of the bladder, Gait disturbance, Gliosis, Hyperreflexia, Hypotension, Impotence, Leukodystrophy, Nystagmus, Orthostatic hypotension due to autonomic dysfunction, Personality changes, Progressive, Progressive neurologic deterioration, Pseudobulbar paralysis, Spasticity, Symmetric peripheral demyelination, Tetraparesis, Tremor, Urinary urgency
MGE-div	NUP62	1.258984049	3.35E-07	Transport/cargo protein	BrainSpLMD|23636	OMIM|605815;HPO|23636|Autosomal recessive inheritance, Choreoathetosis, Developmental regression, Developmental stagnation, Dysphagia, Dystonia, Failure to thrive, Intellectual disability, Optic atrophy, Pendular nystagmus, Spasticity
MGE-div	KIF23	1.269691721	3.47E-07	Motor protein	BrainSpLMD|9493;Eurexp|euxassay_006188|incisor, lung, mantle layer, marginal layer, olfactory, submandibular gland primordium, thymus primordium, thyroid, ventricular layer	OMIM|605064;HPO|9493|Abnormal cellular phenotype, Abnormal proerythroblast morphology, Anemia, Anisocytosis, Fatigue, Hyperbilirubinemia, Increased mean corpuscular volume, Increased serum iron, Increased total iron binding capacity, Poikilocytosis
MGE-div	PRDX2	0.588022441	4.75E-07	Enzyme: Peroxidase	BrainSpLMD|7001;Eurexp|euxassay_006304|embryo	OMIM|600538
MGE-div	CASP8AP2	1.117953618	4.93E-07	Adapter molecule	BrainSpLMD|9994;Eurexp|euxassay_002768|calyces, incisor, skeleton, submandibular gland primordium, ventricular layer, vibrissa	OMIM|606880
MGE-div	LINC01224	1.150323244	5.25E-07			
MGE-div	RPS6	0.331034507	5.30E-07	Ribosomal subunit	BrainSpLMD|6194	OMIM|180460
MGE-div	HNRNPA1	0.254302384	5.30E-07	RNA binding protein	BrainSpLMD|3178	OMIM|164017;HPO|3178|Abnormality of the abdominal musculature, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dyspnea, Elevated alkaline phosphatase, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Limb-girdle muscular dystrophy, Mildly elevated creatine phosphokinase, Muscle cramps, Muscle fiber inclusion bodies, Muscular dystrophy, Myopathy, Neurodegeneration, Pain, Paralysis, Proximal muscle weakness, Respiratory failure, Rimmed vacuoles, Skeletal muscle atrophy, Spasticity, Xerostomia
MGE-div	SP1	1.012849696	5.53E-07	Transcription factor	BrainSpLMD|6667	OMIM|189906
MGE-div	TUBAP2	0.473654993	5.56E-07			
MGE-div	AK4	1.524090622	5.64E-07	Enzyme: Phosphotransferase	BrainSpLMD|205;Eurexp|euxassay_010883|clavicle, hindgut, incisor, midgut, molar, olfactory, rectum, stomach	OMIM|103030
MGE-div	HNRNPH1	0.422203069	5.64E-07	Ribonucleoprotein	BrainSpLMD|3187	OMIM|601035
MGE-div	CORO1C	0.572573744	5.85E-07	Cytoskeletal associated protein	BrainSpLMD|23603	OMIM|605269
MGE-div	TTK	1.793241219	5.97E-07	Dual specificity kinase	BrainSpLMD|7272	OMIM|604092
MGE-div	ENOSF1	1.770041717	6.05E-07	Enzyme: Ligase	BrainSpLMD|55556	OMIM|607427
MGE-div	EXOSC8	0.902222729	6.75E-07	Ribonuclease	BrainSpLMD|11340	OMIM|606019;HPO|11340|Autosomal recessive inheritance, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Failure to thrive, Feeding difficulties, Global developmental delay, Hearing impairment, Hypoplasia of the corpus callosum, Muscle weakness, Respiratory failure, Spastic tetraparesis, Spinal muscular atrophy, Visual impairment
MGE-div	NAP1L1	0.439036431	6.94E-07	Transcription regulatory protein	BrainSpLMD|4673;Eurexp|euxassay_005511|nucleus pulposus	OMIM|164060
MGE-div	TTF2	1.604117492	7.18E-07	Transcription regulatory protein	BrainSpLMD|8458;Eurexp|euxassay_012438|ventricular layer;BrainSpMouseDev|49885	OMIM|604718
MGE-div	SKP2	1.665967986	7.77E-07	Ubiquitin proteasome system protein	BrainSpLMD|6502	OMIM|601436
MGE-div	GRIK3	0.384955254	7.97E-07	Extracellular ligand gated channel	BrainSpLMD|2899;BrainSpMouseDev|14583	SFARI||Autism, No category;OMIM|138243
MGE-div	HIRIP3	0.753653368	8.01E-07	Unclassified	BrainSpLMD|8479	OMIM|603365
MGE-div	MTND4P12	0.753445139	8.26E-07			
MGE-div	TMEM237	0.871178363	8.88E-07	Unclassified	BrainSpLMD|65062	OMIM|614423;HPO|65062|Apnea, Ataxia, Autistic behavior, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Coloboma, Dandy-Walker malformation, Deeply set eye, Downslanted palpebral fissures, Encephalocele, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, High forehead, Highly arched eyebrow, Hydrocephalus, Hypertelorism, Hypertension, Intellectual disability, Intellectual disability, severe, Iris coloboma, Irritability, Long face, Low-set ears, Low-set, posteriorly rotated ears, Malar flattening, Microphthalmia, Molar tooth sign on MRI, Morning glory anomaly, Muscular hypotonia, Nephropathy, Nystagmus, Oculomotor apraxia, Open mouth, Postaxial polydactyly, Posteriorly rotated ears, Prominent nasal bridge, Ptosis, Renal cyst, Retinal dystrophy, Short philtrum, Strabismus, Tachypnea, Tented upper lip vermilion
MGE-div	CALM2	0.517385811	9.04E-07	Calcium binding protein	BrainSpLMD|805	OMIM|114182;HPO|805|Autosomal dominant inheritance, Prolonged QT interval, Ventricular tachycardia, Vertigo
MGE-div	WHSC1L1	0.552935274	9.31E-07			
MGE-div	POLA1	1.800567803	9.46E-07	DNA polymerase	BrainSpLMD|5422	OMIM|312040;HPO|5422|Abnormality of chromosome stability, Abnormality of metabolism/homeostasis, Amyloidosis, Broad eyebrow, Colitis, Corneal scarring, Cryptorchidism, Diarrhea, Failure to thrive in infancy, Generalized reticulate brown pigmentation, Global developmental delay, Hearing impairment, Hemiplegia, Hyperkeratosis, Hypohidrosis, Hypospadias, Inguinal hernia, Intellectual disability, Leukemia, Neoplasm, Opacification of the corneal stroma, Photophobia, Recurrent infection of the gastrointestinal tract, Recurrent pneumonia, Seizures, Spasticity, Urethral stricture, Visual impairment, Visual loss, X-linked inheritance, X-linked recessive inheritance
MGE-div	DEPDC1B	1.13280353	9.58E-07	Unclassified	BrainSpLMD|55789	OMIM|616073
MGE-div	MPHOSPH9	1.347307024	9.72E-07	Cell cycle control protein	BrainSpLMD|10198	OMIM|605501
MGE-div	STIL	1.648046103	1.00E-06	Unclassified	BrainSpLMD|6491	OMIM|181590;COSMIC||T-ALL;HPO|6491|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Congenital onset, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-div	MYO1B	1.44949082	1.16E-06	Motor protein	BrainSpLMD|4430;Eurexp|euxassay_006192|mantle layer, olfactory, ventricular layer	OMIM|606537
MGE-div	CLGN	1.527893616	1.24E-06	Chaperone	BrainSpLMD|1047	OMIM|601858
MGE-div	SHMT2	1.777143785	1.29E-06	Enzyme: Methyltransferase	BrainSpLMD|6472;Eurexp|euxassay_001650|axial skeleton, neural retina, nucleus pulposus, orbito-sphenoid, pituitary, submandibular gland primordium, vibrissa	OMIM|138450
MGE-div	CALM2P3	0.497333113	1.34E-06			
MGE-div	CHRAC1	1.315024842	1.41E-06	DNA binding protein	BrainSpLMD|54108	OMIM|607268
MGE-div	DDX11	1.172292693	1.45E-06	RNA binding protein		SFARI||Autism, 5 - Hypothesized but untested;OMIM|601150;HPO|1663|2-3 toe syndactyly, Autosomal recessive inheritance, Cupped ear, Cutis marmorata, Epicanthus, Generalized hypotonia, Global developmental delay, Hearing impairment, High palate, Hypoplasia of the cochlea, Intellectual disability, Intrauterine growth retardation, Microcephaly, Optic nerve coloboma, Single transverse palmar crease, Sloping forehead, Small face, Ventricular septal defect, Wide mouth
MGE-div	WDHD1	1.808120057	1.48E-06	DNA binding protein	BrainSpLMD|11169;Eurexp|euxassay_012406|submandibular gland primordium, thymus primordium, ventricular layer;BrainSpMouseDev|85441	OMIM|608126
MGE-div	ANP32B	1.129602823	1.52E-06	Unclassified	BrainSpLMD|10541;Eurexp|euxassay_006714|embryo	
MGE-div	PHF10	1.475865369	1.71E-06	Transcription regulatory protein	BrainSpLMD|55274	OMIM|613069
MGE-div	CDCA8	1.569139628	1.71E-06	Cell cycle control protein	BrainSpLMD|55143	OMIM|609977
MGE-div	TIMM10	1.392051962	1.72E-06	Chaperone	BrainSpLMD|26519	OMIM|602251
MGE-div	SLMO2	1.209266433	1.73E-06			
MGE-div	ZNF704	0.355858442	1.77E-06	Unclassified		
MGE-div	NRXN3	0.3889147	1.81E-06	Adhesion molecule	BrainSpLMD|9369;Eurexp|euxassay_009777|bladder, collecting ducts, inner ear, mantle layer, marginal layer, neural retina, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|600567
MGE-div	CKB	0.936207614	1.82E-06	Enzyme: Phosphotransferase	BrainSpLMD|1152;Eurexp|euxassay_011493|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lung, mandible, mantle layer, maxilla, midgut, neural retina, oesophagus, olfactory, rectum, sternum, stomach, trigeminal V, ventral grey horn, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ, wall	OMIM|123280
MGE-div	LSM5	0.780759431	1.83E-06	RNA binding protein	BrainSpLMD|23658;Eurexp|euxassay_001693|cortex, oesophagus, thymus primordium, ventricular layer	OMIM|607285
MGE-div	TPM4	0.507320265	1.92E-06	Cytoskeletal protein		OMIM|600317;COSMIC||ALCL
MGE-div	TUBG1	1.680976626	1.93E-06	Cytoskeletal protein	BrainSpLMD|7283	OMIM|191135;HPO|7283|Autosomal dominant inheritance, Cortical dysplasia, Global developmental delay, Microcephaly, Seizures, Variable expressivity
MGE-div	RAD18	1.604154555	1.93E-06	DNA binding protein	BrainSpLMD|56852	OMIM|605256
MGE-div	SHCBP1	2.561172076	1.94E-06	Unclassified	BrainSpLMD|79801;Eurexp|euxassay_006012|submandibular gland primordium, ventricular layer	OMIM|611027
MGE-div	CDCA2	1.719774582	1.98E-06	Unclassified	BrainSpLMD|157313;Eurexp|euxassay_000111|cortex, marginal layer, metanephros, midbrain, thalamus, ventricular layer	
MGE-div	RP11.95I19.3	0.351709605	2.02E-06			
MGE-div	RANBP1	1.181011714	2.17E-06	Transport/cargo protein		OMIM|601180
MGE-div	CASP2	0.393033013	2.20E-06	Cysteine protease	BrainSpLMD|835	OMIM|600639
MGE-div	MNS1	2.040045363	2.21E-06	Structural protein	BrainSpLMD|55329	OMIM|610766
MGE-div	SRSF7	0.565675453	2.27E-06	RNA binding protein	BrainSpLMD|6432	OMIM|600572
MGE-div	PRKDC	0.422525175	2.30E-06	Serine/threonine kinase;DNA repair protein	BrainSpLMD|5591;Eurexp|euxassay_009524|thymus primordium	SFARI||Autism, 4 - Minimal evidence;OMIM|600899;HPO|5591|Autosomal recessive inheritance, Infantile onset, Microcephaly, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Severe combined immunodeficiency
MGE-div	PBX3	1.276157784	2.45E-06	Transcription factor	BrainSpLMD|5090;Eurexp|euxassay_002571|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, pharyngo-tympanic tube, spinal cord;BrainSpMouseDev|18282	OMIM|176312
MGE-div	DERA	1.612573991	2.52E-06	Enzyme: Lyase	BrainSpLMD|51071	
MGE-div	KIF20B	0.762987986	2.56E-06	Cell cycle control protein	BrainSpLMD|9585	OMIM|605498
MGE-div	WSB2	0.707612275	2.58E-06	Ubiquitin proteasome system protein	BrainSpLMD|55884;Eurexp|euxassay_015363|brain, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vestibulocochlear VIII	
MGE-div	TOMM5	0.317666069	2.83E-06	Unclassified		OMIM|616169
MGE-div	CKAP5	0.823832224	2.93E-06	Cytoskeletal associated protein	BrainSpLMD|9793;Eurexp|euxassay_011048|cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, molar, olfactory, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|611142
MGE-div	RDX	0.99254024	3.16E-06	Cytoskeletal associated protein	BrainSpLMD|5962	OMIM|179410;HPO|5962|Autosomal recessive inheritance, Infantile onset, Profound sensorineural hearing impairment
MGE-div	COL9A1	1.524110509	3.39E-06	Extracellular matrix protein	BrainSpLMD|1297;Eurexp|euxassay_011520|axial skeleton, bladder, clavicle, cricoid, exoccipital bone, femur, fibula, humerus, hyoid bone, mandible, maxilla, metacarpus, metatarsus, naris, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, phalanx, radius, rib, scapula, sternum, submandibular gland primordium, temporal bone, thyroid, tibia, trachea, turbinate, ulna, vault of skull;BrainSpMouseDev|12622	OMIM|120210;HPO|1297|Abnormality of epiphysis morphology, Abnormality of the knee, Amblyopia, Arthralgia, Arthralgia of the hip, Astigmatism, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Childhood onset, Cleft palate, Degenerative vitreoretinopathy, Epiphyseal dysplasia, Flat capital femoral epiphysis, Flat distal femoral epiphysis, Flat face, Gait disturbance, Genu valgum, Hip dysplasia, Irregular distal femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Limitation of joint mobility, Malar flattening, Micrognathia, Micromelia, Multiple epiphyseal dysplasia, Myopia, Osteoarthritis, Platyspondyly, Retinal detachment, Schmorl's node, Sensorineural hearing impairment, Severe Myopia, Short stature, Small epiphyses, Vitreoretinal degeneration
MGE-div	SP3	0.737955426	3.56E-06	Transcription factor	BrainSpLMD|6670;BrainSpMouseDev|20449	OMIM|601804
MGE-div	SGOL2	1.513339663	3.63E-06			
MGE-div	RBL1	1.289100823	3.65E-06	Cell cycle control protein	BrainSpLMD|5933	OMIM|116957
MGE-div	TUBBP1	0.539581748	3.70E-06			
MGE-div	LMNB2	1.744023217	3.76E-06	Structural protein	BrainSpLMD|84823	OMIM|150341;HPO|84823|Autoimmunity, Autosomal recessive inheritance, Decreased serum complement C3, Gait ataxia, Generalized amyotrophy, Global developmental delay, Hearing impairment, Intellectual disability, Lipoatrophy, Lymphocytosis, Microglossia, Myoclonus, Myopathy, Progeroid facial appearance, Progressive, Scoliosis, Seizures, Short thumb, Status epilepticus, Ventriculomegaly
MGE-div	RIF1	0.652164739	3.89E-06	DNA binding protein	BrainSpLMD|55183	OMIM|608952
MGE-div	PPIAP22	0.274291815	4.00E-06			
MGE-div	CCNB2	0.764859329	4.11E-06	Cell cycle control protein	BrainSpLMD|9133;Eurexp|euxassay_004323|axial muscle, ventricular layer	OMIM|602755
MGE-div	HNRNPRP1	0.44318009	4.11E-06			
MGE-div	NNAT	0.69337549	4.32E-06	Regulatory/other subunit	BrainSpLMD|4826;Eurexp|euxassay_007364|brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, mesenchyme, mesothelium, midgut, neural retina, oesophagus, olfactory, paraxial mesenchyme, pericardial cavity, peritoneal cavity, right lung, skeletal muscle, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|17878	OMIM|603106
MGE-div	DDX39A	1.035706496	4.35E-06	RNA helicase	BrainSpLMD|10212	
MGE-div	CENPW	1.227140118	4.57E-06	Unclassified	Eurexp|euxassay_006383|roof plate, telencephalic part of interventricular foramen, thalamus	OMIM|611264
MGE-div	C3orf58	1.068594691	4.62E-06	Unclassified	BrainSpLMD|205428	SFARI||Autism, 4 - Minimal evidence;OMIM|612200
MGE-div	HCFC1	0.90324629	5.00E-06	Transcription factor	BrainSpLMD|3054	SFARI||Autism, No category;OMIM|300019;HPO|3054|Brachycephaly, Failure to thrive, Generalized hypotonia, Hypsarrhythmia, Infantile onset, Intellectual disability, Methylmalonic acidemia, Methylmalonic aciduria, Microcephaly, Short stature, X-linked inheritance, X-linked recessive inheritance
MGE-div	HAUS6	1.170383885	5.11E-06	Unclassified	BrainSpLMD|54801	OMIM|613433
MGE-div	MRE11A	0.655987493	5.42E-06			
MGE-div	RPS3A	0.264289742	5.46E-06	Ribosomal subunit		OMIM|180478
MGE-div	RP5.857K21.11	0.429331372	5.51E-06			
MGE-div	CENPC	0.855906898	5.96E-06	DNA binding protein	BrainSpLMD|1060	OMIM|117141
MGE-div	H3F3AP4	0.50969566	6.08E-06			
MGE-div	PSMC3	0.937574558	6.13E-06	Ubiquitin proteasome system protein	BrainSpLMD|5702	OMIM|186852
MGE-div	RANP1	0.420623934	6.32E-06			
MGE-div	MIR16.2	0.850802084	6.38E-06			
MGE-div	HINT1	0.536532001	6.43E-06	ATPase	BrainSpLMD|3094	OMIM|601314;HPO|3094|Abnormality of the foot, Autosomal recessive inheritance, Distal sensory impairment, Elevated serum creatine phosphokinase, Fasciculations, Foot dorsiflexor weakness, Hyperhidrosis, Muscle cramps, Muscle stiffness, Myokymia, Myotonia, Progressive, Sensory axonal neuropathy, Skeletal muscle atrophy
MGE-div	FANCA	2.228005591	7.18E-06	DNA binding protein	BrainSpLMD|2175	OMIM|607139;COSMIC||AML, leukaemia;HPO|2175|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of skin pigmentation, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anemia, Anemic pallor, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bruising susceptibility, Cafe-au-lait spot, Chromosomal breakage induced by crosslinking agents, Complete duplication of thumb phalanx, Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Duplicated collecting system, Ectopic kidney, Esophageal atresia, Global developmental delay, Hearing impairment, Horseshoe kidney, Hypergonadotropic hypogonadism, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukemia, Leukopenia, Microcephaly, Microphthalmia, Neutropenia, Pancytopenia, Prolonged G2 phase of cell cycle, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Reticulocytopenia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Small for gestational age, Strabismus, Thrombocytopenia, Tracheoesophageal fistula
MGE-div	SRSF1	1.074296764	7.59E-06	RNA binding protein	BrainSpLMD|6426	OMIM|600812
MGE-div	CTC.260E6.6	1.280090843	7.61E-06			
MGE-div	PRR11	1.191043406	7.74E-06	Unclassified	BrainSpLMD|55771	OMIM|615920
MGE-div	EIF1AY	1.417293899	7.93E-06	Translation regulatory protein	BrainSpLMD|9086	OMIM|400014
MGE-div	CCDC150	1.528471091	7.98E-06	Cytoskeletal protein	BrainSpLMD|284992	
MGE-div	RPL21	0.394767271	8.30E-06	Ribosomal subunit		OMIM|603636;HPO|6144|Alopecia, Aplasia/Hypoplasia of the eyebrow, Autosomal dominant inheritance, Hypotrichosis, Hypotrichosis of the scalp, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Sparse or absent eyelashes
MGE-div	DNAJC9	1.112532516	8.39E-06	Chaperone	BrainSpLMD|23234;Eurexp|euxassay_001729|ventricular layer	OMIM|611206
MGE-div	EEF1B2	0.633983553	8.73E-06	Translation regulatory protein	BrainSpLMD|1933	OMIM|600655
MGE-div	ACTB	0.255162787	8.94E-06	Cytoskeletal protein	BrainSpLMD|60;BrainSpMouseDev|11250	OMIM|102630;HPO|60|Abnormality of metabolism/homeostasis, Achalasia, Agenesis of corpus callosum, Anteverted nares, Aortic valve stenosis, Aphasia, Autosomal dominant inheritance, Autosomal recessive inheritance, Bicuspid aortic valve, Blindness, Cataract, Cerebral cortical hemiatrophy, Chorioretinal coloboma, Cleft palate, Cleft upper lip, Coarse facial features, Cryptorchidism, Death in early adulthood, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Dysphagia, Dysphasia, Echolalia, Epicanthus, Euryblepharon, Externally rotated hips, Failure to thrive, Feeding difficulties, Full cheeks, Generalized dystonia, Generalized hypotonia, Global developmental delay, Growth delay, Heterochromia iridis, High forehead, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplastic scapulae, Immunodeficiency, Intellectual disability, Intellectual disability, mild, Iris coloboma, Joint stiffness, Kyphoscoliosis, Kyphosis, Large fontanelles, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Macroglossia, Macrogyria, Mental deterioration, Microcephaly, Micrognathia, Micromelia, Micropenis, Mild global developmental delay, Mutism, Oral cleft, Osteochondrosis, Overfolded helix, Pachygyria, Patent ductus arteriosus, Pointed chin, Polymicrogyria, Postnatal growth retardation, Prominent epicanthal folds, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Scoliosis, Seizures, Sensorineural hearing impairment, Short columella, Short neck, Short nose, Short stature, Skeletal dysplasia, Small for gestational age, Specific learning disability, Subcortical cerebral atrophy, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Trigonocephaly, Wide mouth, Wide nasal bridge, Wide nose
MGE-div	PARPBP	0.801611408	9.02E-06	Unclassified	BrainSpLMD|55010	OMIM|613687
MGE-div	NCL	0.542646523	9.24E-06	RNA binding protein	BrainSpLMD|4691;Eurexp|euxassay_007121|embryo	OMIM|164035
MGE-div	OMD	1.568708328	9.92E-06	Adhesion molecule	BrainSpLMD|4958	COSMIC||aneurysmal bone cyst
MGE-div	MCM5	1.719201295	1.03E-05	DNA binding protein	BrainSpLMD|4174	OMIM|602696
MGE-div	SLC43A3	1.543326439	1.06E-05	Membrane transport protein	BrainSpLMD|29015	
MGE-div	RPLP0P6	0.473476155	1.13E-05			
MGE-div	NUP43	0.861090894	1.15E-05	Transport/cargo protein	BrainSpLMD|348995;Eurexp|euxassay_007275|bladder, cortex, incisor, left lung, liver, mesenchyme, midgut, molar, olfactory, pectoral girdle and thoracic body wall, right lung, thymus primordium	OMIM|608141
MGE-div	COX6C	0.711362363	1.17E-05	Regulatory/other subunit	BrainSpLMD|1345	OMIM|124090;COSMIC||uterine leiomyoma
MGE-div	HNRNPA1P48	0.32054017	1.26E-05			
MGE-div	RND3	0.959229037	1.28E-05	G protein	BrainSpLMD|390	OMIM|602924
MGE-div	HNRNPU	0.386034102	1.33E-05	Ribonucleoprotein	BrainSpLMD|3192	SFARI||Autism, 4 - Minimal evidence;OMIM|602869;HPO|3192|Abnormality of the cardiac septa, Agenesis of corpus callosum, Autosomal dominant inheritance, Delayed myelination, Delayed speech and language development, EEG abnormality, Epicanthus, Epileptic encephalopathy, Exaggerated cupid's bow, Generalized hypotonia, Generalized tonic-clonic seizures, Global developmental delay, Hypertelorism, Infantile onset, Intellectual disability, Intellectual disability, severe, Microcephaly, Micrognathia, Muscular hypotonia, Seizures, Short stature, Smooth philtrum, Strabismus, Telecanthus, Thin vermilion border, Upslanted palpebral fissure, Ventriculomegaly
MGE-div	ZWILCH	0.912073491	1.33E-05	Unclassified	BrainSpLMD|55055	SFARI||Autism, 4 - Minimal evidence;OMIM|609984
MGE-div	BTG3	1.010296951	1.34E-05	Cell cycle control protein	BrainSpLMD|10950	OMIM|605674
MGE-div	POLR3K	1.752665671	1.36E-05	RNA polymerase	BrainSpLMD|51728;Eurexp|euxassay_002548|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, stroma, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|42848	OMIM|606007
MGE-div	ERH	0.847772669	1.46E-05	Transcription regulatory protein	BrainSpLMD|2079;Eurexp|euxassay_018034|orbito-sphenoid, ventricular layer	OMIM|601191
MGE-div	MTAP	1.243651202	1.46E-05	Enzyme: Phosphorylase	BrainSpLMD|4507;Eurexp|euxassay_003372|axial muscle, cranium, incisor, mantle layer, marginal layer, orbito-sphenoid, submandibular gland primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|156540
MGE-div	RBBP4P1	0.880094154	1.50E-05			
MGE-div	CBX5	0.753168872	1.53E-05	DNA binding protein	BrainSpLMD|23468	OMIM|604478
MGE-div	ZNF43	0.697673658	1.54E-05	DNA binding protein	BrainSpLMD|7594	OMIM|603972
MGE-div	RFC3	1.629260625	1.56E-05	DNA binding protein	BrainSpLMD|5983;Eurexp|euxassay_010694|submandibular gland primordium, ventricular layer	OMIM|600405
MGE-div	BRD8	0.900951074	1.60E-05	Transcription regulatory protein	BrainSpLMD|10902;Eurexp|euxassay_019636|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	OMIM|602848
MGE-div	RP11.473N11.2	0.711959375	1.61E-05			
MGE-div	10-Sep	1.530003153	1.61E-05			
MGE-div	RCC1	1.979613688	1.83E-05	Guanine nucleotide exchange factor	BrainSpLMD|1104;Eurexp|euxassay_000016|lateral wall, liver, lung, mandible, mantle layer, marginal layer, metanephros, palatal shelf, submandibular gland primordium, thymus primordium, trigeminal V, ventricular layer, vibrissa	OMIM|179710
MGE-div	RPL8	0.422034873	1.84E-05	Ribosomal subunit	BrainSpLMD|6132;Eurexp|euxassay_006230|left, right	OMIM|604177
MGE-div	RPS20P14	0.520600064	1.90E-05			
MGE-div	GUSBP3	1.713148461	1.94E-05			
MGE-div	COX8A	0.412842908	2.06E-05	Enzyme: Oxidoreductase	BrainSpLMD|1351	OMIM|123870
MGE-div	POLD3	0.753285985	2.11E-05	DNA polymerase	BrainSpLMD|10714;Eurexp|euxassay_007336|embryo	OMIM|611415
MGE-div	RAD21	0.713890091	2.12E-05	DNA binding protein	BrainSpLMD|5885	OMIM|606462;COSMIC||AML, endometrium, colorectal, lung, Cornelia de Lange syndrome-4;HPO|5885|Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Clinodactyly of the 5th finger, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downturned corners of mouth, Elbow dislocation, Exostoses, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phenotypic variability, Phthisis bulbi, Premature birth, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Smooth philtrum, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Vesicoureteral reflux, Wide nasal bridge, Widely spaced teeth
MGE-div	HAUS1	0.943742143	2.15E-05	Cell cycle control protein	BrainSpLMD|115106;Eurexp|euxassay_003161|chondrocranium, cortex, incisor, lobe, oesophagus, pancreas, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|608775
MGE-div	RPLP0	0.550427276	2.17E-05	Ribosomal subunit	BrainSpLMD|6175	OMIM|180510
MGE-div	CEP135	1.527094953	2.33E-05	Unclassified	BrainSpLMD|9662	SFARI||Autism, 3 - Suggestive evidence;OMIM|611423;HPO|9662|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Congenital onset, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, severe, Microcephaly, Pachygyria, Retrognathia, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-div	BUB3	0.332032906	2.47E-05	Cell cycle control protein	BrainSpLMD|9184;Eurexp|euxassay_004484|hindbrain, lateral wall, mantle layer, saccule, utricle	OMIM|603719;HPO|9184|Abnormality of vision, Ascites, Cataract, Corneal opacity, Dandy-Walker malformation, Epicanthus, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Polyhydramnios, Short stature, Triangular face
MGE-div	NUCKS1	0.48404191	2.72E-05	DNA binding protein	BrainSpLMD|64710	OMIM|611912
MGE-div	PTMAP4	0.324689448	2.73E-05			
MGE-div	ALDOA	0.390064884	2.74E-05	Enzyme: Lyase;Enzyme: Aldolase	BrainSpLMD|226	OMIM|103850;HPO|226|Autosomal recessive inheritance, Cholecystitis, Cholelithiasis, Delayed puberty, Epicanthus, Jaundice, Low posterior hairline, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Ptosis, Short neck, Short stature, Splenomegaly
MGE-div	UBR7	0.621783955	2.86E-05	Unclassified	BrainSpLMD|55148	SFARI||Autism, 5 - Hypothesized but untested;OMIM|613816
MGE-div	EFCAB2	1.360933208	3.15E-05	Calcium binding protein	BrainSpLMD|84288;Eurexp|euxassay_004433|choroid invagination, mantle layer, meninges	
MGE-div	H2AFX	1.585407892	3.15E-05	DNA binding protein	BrainSpLMD|3014;Eurexp|euxassay_002718|ventricular layer	OMIM|601772
MGE-div	NRM	0.501622321	3.36E-05	Unclassified	BrainSpLMD|11270;Eurexp|euxassay_002983|chondrocranium, nasal capsule, orbito-sphenoid, turbinate, ventricular layer	
MGE-div	RP11.488L18.10	0.544611661	3.37E-05			
MGE-div	TEX30	1.11733664	3.46E-05	Unclassified	BrainSpLMD|93081;Eurexp|euxassay_007574|ventricular layer	
MGE-div	NFATC2IP	0.849244697	3.51E-05	Unclassified	BrainSpLMD|84901	OMIM|614525
MGE-div	NDUFA6	0.74888233	3.61E-05	Enzyme: Oxidoreductase	BrainSpLMD|4700	OMIM|602138
MGE-div	GEN1	1.984681189	3.62E-05	DNA binding protein	BrainSpLMD|348654	OMIM|612449
MGE-div	MSH2	0.86419858	3.63E-05	DNA repair protein	BrainSpLMD|4436;Eurexp|euxassay_001494|dorsal root ganglion	OMIM|609309;COSMIC||colorectal, endometrial, ovarian, colorectal, endometrial, ovarian;HPO|4436|Abdominal pain, Abnormality of abdomen morphology, Adenoma sebaceum, Anxiety, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary freckling, Basal cell carcinoma, Benign gastrointestinal tract tumors, Benign genitourinary tract neoplasm, Breast carcinoma, Cafe-au-lait spot, Colon cancer, Colonic diverticula, Constipation, Death in early adulthood, Death in infancy, Depressivity, Duodenal adenocarcinoma, Ependymoma, Fatigue, Gastrointestinal hemorrhage, Glioblastoma, Hypermelanotic macule, Hypertonia, Increased intracranial pressure, Irritability, Laryngeal carcinoma, Leukemia, Lymphoma, Malabsorption, Malignant genitourinary tract tumor, Medulloblastoma, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Neoplasm of the stomach, Neuroblastoma, Rhabdomyosarcoma, Sebaceous gland carcinoma, Seizures, Weight loss
MGE-div	AC004381.6	1.769996289	3.69E-05			
MGE-div	GGH	1.121330714	3.69E-05	Enzyme: Hydrolase	BrainSpLMD|8836	OMIM|601509
MGE-div	CDC7	1.61758751	3.83E-05	Cell cycle control protein	BrainSpLMD|8317;Eurexp|euxassay_012050|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|603311
MGE-div	PTPLAD1	0.615978639	3.89E-05			
MGE-div	FGD5.AS1	0.657164213	3.95E-05			
MGE-div	CSE1L	1.277821892	4.12E-05	Transport/cargo protein	BrainSpLMD|1434;Eurexp|euxassay_000112|cortex, gland, glossopharyngeal IX, incisor, liver, lung, metanephros, physiological umbilical hernia, submandibular gland primordium, thymus primordium, trigeminal V, turbinate bones, vagus X, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|601342
MGE-div	FGD3	2.025477894	4.19E-05	Guanine nucleotide exchange factor	BrainSpLMD|89846;Eurexp|euxassay_010184|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vestibulocochlear VIII	OMIM|617554
MGE-div	ZCRB1	1.087233664	4.22E-05	RNA binding protein	BrainSpLMD|85437	OMIM|610750
MGE-div	CNTRL	0.63754018	4.40E-05	Unclassified	BrainSpLMD|11064;Eurexp|euxassay_016548|ventricular layer;BrainSpMouseDev|26666	OMIM|605496;COSMIC||MPN, NHL
MGE-div	IPO5	1.062340659	4.92E-05	Transport/cargo protein	BrainSpLMD|3843	OMIM|602008
MGE-div	ZNF90	2.067520206	5.20E-05	Transcription regulatory protein		OMIM|603973
MGE-div	C4orf46	1.578178129	5.40E-05	Unclassified		OMIM|616210
MGE-div	CCT6A	0.606069392	5.48E-05	Chaperone	BrainSpLMD|908	OMIM|104613
MGE-div	SNRPE	0.590177455	5.88E-05	Ribonucleoprotein		OMIM|128260;HPO|6635|Absent axillary hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Autosomal dominant inheritance, Hypotrichosis, Hypotrichosis of the scalp, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Sparse or absent eyelashes
MGE-div	EWSR1	0.413744597	5.96E-05	RNA binding protein	BrainSpLMD|2130	OMIM|133450;COSMIC||Ewing sarcoma, desmoplastic small round cell tumour, ALL, clear cell sarcoma, sarcoma, myoepithelioma, mesothelioma;HPO|2130|Abdominal distention, Abdominal pain, Abnormality of the peritoneum, Ewing's sarcoma, Hepatomegaly, Ileus, Mediastinal lymphadenopathy, Nausea and vomiting, Sarcoma, Somatic mutation
MGE-div	SLBP	0.741934099	6.19E-05	RNA binding protein	BrainSpLMD|7884;Eurexp|euxassay_009988|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|602422
MGE-div	ZC3H12C	1.532510133	6.30E-05	Unclassified		OMIM|615001
MGE-div	MT.ATP8	0.275988879	6.32E-05			
MGE-div	RAB13	0.728076464	6.68E-05	GTPase	Eurexp|euxassay_003494|meninges, metencephalon, olfactory lobe	OMIM|602672
MGE-div	TTL	0.604411321	6.83E-05	Enzyme: Ligase	BrainSpLMD|150465;Eurexp|euxassay_003613|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, thoracic, trigeminal V, ventral grey horn	OMIM|608291
MGE-div	ZEB2	0.342562493	6.86E-05	Transcription regulatory protein	BrainSpLMD|9839;Eurexp|euxassay_005774|bladder, dorsal grey horn, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, lung, mantle layer, metanephros, midgut, nasal septum, penis, pharyngo-tympanic tube, stomach;BrainSpMouseDev|23887	OMIM|605802;HPO|9839|Abdominal distention, Abnormality of metabolism/homeostasis, Abnormality of the abdominal wall, Abnormality of the rib cage, Absent speech, Atrial septal defect, Autosomal dominant inheritance, Broad eyebrow, Delayed eruption of teeth, Drooling, Generalized hypotonia, Happy demeanor, Hypoplasia of the corpus callosum, Intellectual disability, moderate, Motor delay, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pulmonary artery sling, Pulmonary artery stenosis, Pulmonic stenosis, Supernumerary nipple, Ventricular septal defect, Vomiting, Widely spaced teeth
MGE-div	AKAP12	0.465167195	6.87E-05	Anchor protein	BrainSpLMD|9590	OMIM|604698
MGE-div	NONO	0.7759902	6.94E-05	RNA binding protein	BrainSpLMD|4841;Eurexp|euxassay_006509|embryo	OMIM|300084;COSMIC||papillary renal;HPO|4841|Aggressive behavior, Ataxia, Dental crowding, Frontal bossing, Generalized hypotonia, Hallux valgus, High, narrow palate, Increased head circumference, Intellectual disability, Joint laxity, Kyphosis, Left ventricular noncompaction, Long face, Malar flattening, Mild global developmental delay, Motor delay, Myopia, Narrow mouth, Nasal speech, Neonatal hypotonia, Open mouth, Patent ductus arteriosus, Patent foramen ovale, Perseveration, Pes planus, Prominent nose, Right ventricular hypertrophy, Scoliosis, Seizures, Slender build, Strabismus, Thickened calvaria, Tremor, Upslanted palpebral fissure, Ventricular septal defect, X-linked recessive inheritance
MGE-div	CCDC34	0.990367778	6.97E-05	Unclassified	BrainSpLMD|91057	OMIM|612324
MGE-div	CKLF	0.684366325	7.10E-05	Chemokine	BrainSpLMD|51192	OMIM|616074
MGE-div	NAP1L4	0.715821529	7.13E-05	Chaperone	BrainSpLMD|4676	OMIM|601651
MGE-div	GABPB1	1.059575862	7.45E-05	Transcription factor	BrainSpLMD|2553;BrainSpMouseDev|14167	OMIM|600610
MGE-div	CTB.63M22.1	0.432707116	7.47E-05			
MGE-div	PCDH17	0.939304162	7.53E-05	Adhesion molecule	BrainSpLMD|27253	OMIM|611760
MGE-div	RFC2	0.827222446	7.86E-05	DNA binding protein	BrainSpLMD|5982	OMIM|600404;HPO|5982|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the neck, Anxiety, Arthralgia, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad forehead, Cerebral ischemia, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Dental malocclusion, Depressivity, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Epicanthus, Everted lower lip vermilion, Failure to thrive in infancy, Gait imbalance, Genu valgum, Hallux valgus, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Inguinal hernia, Insomnia, Intellectual disability, Joint stiffness, Kyphosis, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Microcephaly, Microdontia, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Open bite, Overfriendliness, Pelvic kidney, Periorbital edema, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Proteinuria, Protruding ear, Pulmonic stenosis, Redundant skin, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Visual impairment, Wide mouth, Wide nasal bridge
MGE-div	RPS3AP6	0.274323237	8.07E-05			
MGE-div	IQGAP1	1.079247376	8.28E-05	GTPase activating protein	BrainSpLMD|8826;Eurexp|euxassay_010153|choroid plexus, epithelium, hindgut, lung, mandible, metanephros, midgut, oral epithelium, orbito-sphenoid, vibrissa	OMIM|603379
MGE-div	SOX1	0.514814405	9.17E-05	Transcription factor	BrainSpLMD|6656;Eurexp|euxassay_019565|ventral grey horn, ventricular layer	OMIM|602148
MGE-div	CTBP1	0.281924148	9.35E-05	Transcription regulatory protein	BrainSpLMD|1487	OMIM|602618;HPO|1487|Abnormal form of the vertebral bodies, Abnormal sternal ossification, Abnormality of the pinna, Absent septum pellucidum, Accessory spleen, Autosomal dominant inheritance, Cavum septum pellucidum, Cleft palate, Cleft upper lip, Convex nasal ridge, Craniofacial asymmetry, Decreased fetal movement, Decreased muscle mass, Delayed skeletal maturation, Downturned corners of mouth, Ectopia pupillae, Epicanthus, Failure to thrive, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hemangioma, High forehead, Highly arched eyebrow, Hip dislocation, Hyperconvex fingernails, Hypertelorism, Hypodontia, Intellectual disability, severe, Intrauterine growth retardation, Kyphosis, Low posterior hairline, Malrotation of small bowel, Metatarsus adductus, Microcephaly, Micrognathia, Nystagmus, Periventricular cysts, Preauricular pit, Preauricular skin tag, Precocious puberty, Prominent glabella, Proptosis, Pseudoepiphyses of the metacarpals, Ptosis, Radioulnar synostosis, Rib fusion, Rib segmentation abnormalities, Rieger anomaly, Scoliosis, Seizures, Severe postnatal growth retardation, Short philtrum, Short stature, Short upper lip, Small for gestational age, Sporadic, Stenosis of the external auditory canal, Stereotypy, Strabismus, Talipes equinovarus, Ventricular septal defect, Ventriculomegaly, Vertebral fusion, Wide nasal bridge
MGE-div	PARP2	0.596301549	9.56E-05	DNA binding protein;Enzyme: Ribosyltransferase	BrainSpLMD|10038	OMIM|607725
MGE-div	MT.ND5	0.311304176	9.74E-05			
MGE-div	ZNF826P	1.58222732	9.82E-05	Unclassified		
MGE-div	PROM1	1.765471393	0.000107717	Integral membrane protein	BrainSpLMD|8842;BrainSpMouseDev|18889	OMIM|604365;HPO|8842|Abnormal electroretinogram, Abnormality of color vision, Abnormality of macular pigmentation, Abnormality of retinal pigmentation, Abnormality of the choroid, Abnormality of the fovea, Abnormality of the retinal vasculature, Abnormality of the testis, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the macula, Atypical scarring of skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cataract, Central scotoma, Conductive hearing impairment, Cone/cone-rod dystrophy, Dyschromatopsia, Glaucoma, Granular macular appearance, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Macular degeneration, Macular dystrophy, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paroxysmal involuntary eye movements, Perifoveal ring of hyperautofluorescence, Peripheral visual field loss, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Retinal thinning, Rod-cone dystrophy, Sensorineural hearing impairment, Undetectable electroretinogram, Wide nasal bridge, Yellow/white lesions of the macula
MGE-div	SIVA1	0.911662483	0.000111812	Unclassified;Cell surface receptor	BrainSpLMD|10572	OMIM|605567
MGE-div	SEMA5A	0.484288322	0.000113214	Unclassified	BrainSpLMD|9037;BrainSpMouseDev|20119	SFARI||Autism, 3 - Suggestive evidence;OMIM|609297;HPO|9037|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
MGE-div	UFD1L	0.418948259	0.000115065			
MGE-div	CEP57L1	1.026131792	0.000116942	Unclassified	BrainSpLMD|285753	
MGE-div	PSIP1	0.655676804	0.000125728	Transcription regulatory protein	BrainSpLMD|11168;Eurexp|euxassay_008131|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, trigeminal V, vagus X, vibrissa, vomeronasal organ	OMIM|603620;COSMIC||AML
MGE-div	GPSM2	1.17384352	0.000136542	Cell cycle control protein		OMIM|609245;HPO|29899|Arachnoid cyst, Autosomal recessive inheritance, Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus callosum, Gray matter heterotopias, Hydrocephalus, Hypoplasia of the corpus callosum, Large foramen magnum, Partial agenesis of the corpus callosum, Polymicrogyria, Severe sensorineural hearing impairment, Ventriculomegaly
MGE-div	HNRNPDL	0.377346635	0.000136601	Ribonucleoprotein	BrainSpLMD|9987	OMIM|607137;HPO|9987|Adult onset, Autosomal dominant inheritance, Cataract, Decreased movement range in interphalangeal joints, Elevated serum creatine phosphokinase, Flexion limitation of toes, Incomplete penetrance, Limb-girdle muscular dystrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyotrophy, Proximal upper limb amyotrophy, Rimmed vacuoles, Shoulder girdle muscle weakness, Slow progression
MGE-div	YEATS4	1.233882007	0.000139868	Transcription factor	BrainSpLMD|8089	OMIM|602116
MGE-div	ILF2	0.640613869	0.000157992	Transcription factor	BrainSpLMD|3608;Eurexp|euxassay_003141|cervical, cervico-thoracic, chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, submandibular gland primordium, thoracic, trigeminal V, vestibulocochlear VIII, vibrissa	SFARI||Autism, 2 - Strong candidate;OMIM|603181
MGE-div	SLC20A1	0.986441888	0.000158558	Membrane transport protein	BrainSpLMD|6574;Eurexp|euxassay_009182|brain, cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, liver, marginal layer, metanephros, midgut, primitive seminiferous tubules, spinal cord, submandibular gland primordium, thoracic, trigeminal V, vagus X	OMIM|137570
MGE-div	SUZ12	0.4499596	0.000159636	Unclassified	BrainSpLMD|23512;Eurexp|euxassay_011822|Meckel's cartilage, basisphenoid bone, exoccipital bone, femur, fibula, hip, humerus, orbito-sphenoid, petrous part, scapula, tibia, turbinate	OMIM|606245;COSMIC||endometrial stromal tumour;HPO|23512|Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Accelerated skeletal maturation, Broad foot, Broad forehead, Broad thumb, Camptodactyly of finger, Deep philtrum, Deep-set nails, Feeding difficulties in infancy, Fine hair, Global developmental delay, Hoarse voice, Hypertelorism, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Joint stiffness, Large hands, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Micrognathia, Redundant skin, Retrognathia, Round face, Spasticity, Tall stature, Thin nail
MGE-div	OLA1	0.824039175	0.000160166	Unclassified	BrainSpLMD|29789	OMIM|611175
MGE-div	ZNF829	1.226902056	0.000162068	Unclassified		
MGE-div	C12orf57	0.650013566	0.000164879	Unclassified	BrainSpLMD|113246	SFARI||Autism, No category;OMIM|615140;HPO|113246|Agenesis of corpus callosum, Aortic dilatation, Aortic regurgitation, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Brachydactyly, Chorioretinal coloboma, Coarse facial features, Convex nasal ridge, Dental crowding, Dolichocephaly, Downslanted palpebral fissures, Ectopia lentis, Frontal bossing, Generalized hypotonia, Genu varum, Global developmental delay, Highly arched eyebrow, Hip dislocation, Hypertelorism, Hypoplasia of teeth, Infantile onset, Intellectual disability, Intellectual disability, mild, Iris coloboma, Long face, Long philtrum, Lop ear, Low-set ears, Macrocephaly, Micrognathia, Myopia, Pes planus, Short 2nd toe, Short toe, Talipes equinovarus, Ventriculomegaly
MGE-div	CENPL	1.601450466	0.000164955	Unclassified	BrainSpLMD|91687	OMIM|611503
MGE-div	RAD51C	0.604897022	0.000168384	DNA repair protein	BrainSpLMD|5889	OMIM|602774;HPO|5889|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of the fallopian tube, Absent thumb, Almond-shaped palpebral fissure, Anal atresia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Breast carcinoma, Cryptorchidism, Esophageal atresia, External genital hypoplasia, Global developmental delay, Hydronephrosis, Hypopigmented skin patches, Hypoplasia of the radius, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Ovarian neoplasm, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Rectal atresia, Renal cyst, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Stage 5 chronic kidney disease, Thrombocytopenia, Tracheoesophageal fistula
MGE-div	MAGI3	0.750639376	0.000179016	Unclassified	BrainSpLMD|260425;Eurexp|euxassay_011395|axial skeleton, facial VII, femur, fibula, glossopharyngeal IX, left lung, olfactory, rib, right lung, tibia, trigeminal V, vagus X, vomeronasal organ	OMIM|615943
MGE-div	TUBB4B	0.57811398	0.000180321	Structural protein	BrainSpLMD|10383	OMIM|602660
MGE-div	GSTP1	0.503299762	0.000182886	Enzyme: Glutathione transferase	BrainSpLMD|2950;Eurexp|euxassay_006221|lobe	OMIM|134660
MGE-div	MIS12	1.639262136	0.00018701	Cell cycle control protein	BrainSpLMD|79003	OMIM|609178
MGE-div	ACYP1	0.556163028	0.000194916	Enzyme: Phosphatase	BrainSpLMD|97	OMIM|600875
MGE-div	KITLG	1.141066105	0.000200017	Growth factor	BrainSpLMD|4254;Eurexp|euxassay_003584|dorsal root ganglion, glomeruli, mantle layer, marginal layer, naris, neural retina, olfactory, olfactory cortex, stroma, thymus primordium, trachea, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|17080	OMIM|184745;HPO|4254|Autosomal dominant inheritance, Cafe-au-lait spot, Heterochromia iridis, Hyperkeratosis, Hypopigmented skin patches, Infantile onset, Multiple lentigines, Premature graying of hair, Progressive hyperpigmentation, Sensorineural hearing impairment, White forelock
MGE-div	CTD.2033A16.2	0.2569498	0.000200485			
MGE-div	PRTFDC1	1.084275311	0.000202142	Unclassified	BrainSpLMD|56952	OMIM|610751
MGE-div	LIN9	1.811552062	0.000207821	Transcription regulatory protein	BrainSpLMD|286826;Eurexp|euxassay_006443|ventricular layer	OMIM|609375
MGE-div	PDLIM3	1.415232469	0.000212801	Unclassified	BrainSpLMD|27295	OMIM|605889
MGE-div	E2F3	1.606376216	0.000215484	Transcription factor	BrainSpLMD|1871;BrainSpMouseDev|13336	OMIM|600427
MGE-div	TP53	0.408271399	0.000218671	Transcription factor	BrainSpLMD|7157;Eurexp|euxassay_017977|submandibular gland primordium, thymus primordium;BrainSpMouseDev|21816	OMIM|191170;COSMIC||breast, colorectal, lung, sarcoma, adrenocortical, glioma, Spitzoid tumour, multiple other tumour types, breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types;HPO|7157|Abnormal lactate dehydrogenase activity, Abnormal platelet morphology, Abnormality of metabolism/homeostasis, Abnormality of the fallopian tube, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphysis, Acute leukemia, Adrenocortical carcinoma, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Breast carcinoma, Chest pain, Choroid plexus papilloma, Colon cancer, Elevated alkaline phosphatase, Headache, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hydrocephalus, Increased megakaryocyte count, Joint swelling, Lung adenocarcinoma, Lymphoma, Micronodular cirrhosis, Myocardial infarction, Nausea, Neoplasia of the nasopharynx, Neoplasm of the adrenal cortex, Neoplasm of the colon, Neoplasm of the nervous system, Neoplasm of the pancreas, Neoplasm of the skin, Neoplasm of the stomach, Nephroblastoma, Osteolysis, Osteosarcoma, Ovarian neoplasm, Pain, Papilledema, Paresthesia, Polygenic inheritance, Primary peritoneal carcinoma, Progressive encephalopathy, Prolonged bleeding time, Prostate cancer, Prostate neoplasm, Renal cell carcinoma, Retinoblastoma, Seizures, Soft tissue sarcoma, Somatic mutation, Splenomegaly, Subacute progressive viral hepatitis, Transient ischemic attack, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Venous thrombosis, Vomiting
MGE-div	BICC1	0.498851568	0.000220824	RNA binding protein	BrainSpLMD|80114	OMIM|614295
MGE-div	MCM6	1.72486816	0.000221479	Cell cycle control protein	BrainSpLMD|4175	OMIM|601806;HPO|4175|Abdominal pain, Autosomal dominant inheritance, Autosomal recessive inheritance, Decreased small intestinal mucosa lactase activity, Diarrhea, Lactose intolerance
MGE-div	CISD2	1.645967747	0.000227864	Unclassified	BrainSpLMD|493856	OMIM|611507;HPO|493856|Abnormal bleeding, Abnormality of mesentery morphology, Ataxia, Autosomal recessive inheritance, Depressivity, Diabetes insipidus, Diabetes mellitus, Dysarthria, Dysuria, Feeding difficulties in infancy, Impaired collagen-induced platelet aggregation, Nephropathy, Nystagmus, Optic atrophy, Optic neuropathy, Polydipsia, Recurrent urinary tract infections, Seizures, Sensorineural hearing impairment
MGE-div	SKA2	0.667145065	0.000239741	Unclassified	BrainSpLMD|348235;Eurexp|euxassay_007512|left lung, metanephros, olfactory, retina, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|616674
MGE-div	FBLN1	0.643609265	0.000248447	Extracellular matrix protein	BrainSpLMD|2192;Eurexp|euxassay_011935|bladder, meninges, mesenchyme, midgut, nasal cavity, stomach, valve	OMIM|135820;HPO|2192|Autosomal dominant inheritance, Carpal synostosis, Metacarpal synostosis, Metatarsal synostosis, Polydactyly, Tarsal synostosis, Toe syndactyly
MGE-div	HNRNPUL1	0.258706834	0.000249558	RNA binding protein	BrainSpLMD|11100	OMIM|605800
MGE-div	HNRNPR	0.839296241	0.000253627	RNA binding protein	BrainSpLMD|10236	OMIM|607201
MGE-div	RFWD3	1.644176643	0.000253641	Unclassified	BrainSpLMD|55159	OMIM|614151
MGE-div	CLIC1	0.856003257	0.000254276	Intracellular ligand gated channel	BrainSpLMD|1192	OMIM|602872
MGE-div	CDC23	1.325847408	0.000254796	Ubiquitin proteasome system protein;Cell cycle control protein	BrainSpLMD|8697;Eurexp|euxassay_007491|embryo	OMIM|603462
MGE-div	RPS27A	0.317069814	0.000264624	Ubiquitin proteasome system protein		OMIM|191343
MGE-div	SNRPFP1	0.577677309	0.000267209			
MGE-div	KIAA1715	1.079725283	0.000272043			
MGE-div	HAUS5	0.68488181	0.000284439	Unclassified	BrainSpLMD|23354	OMIM|613432
MGE-div	ZNF271	0.584975335	0.000285408			
MGE-div	TUBB6	1.419962545	0.000292741	Cytoskeletal protein	BrainSpLMD|84617;Eurexp|euxassay_015347|cervical, cervico-thoracic, cochlear component, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, inferior, medulla oblongata, metencephalon, midbrain, neural retina, nucleus pulposus, olfactory, spinal cord, stroma, superior, telencephalon, thoracic, tongue, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII	OMIM|615103
MGE-div	SENP1	1.198190334	0.000297042	Protease	BrainSpLMD|29843;Eurexp|euxassay_006519|embryo	OMIM|612157
MGE-div	PARD3	0.760012048	0.000298287	Adapter molecule	BrainSpLMD|56288;BrainSpMouseDev|60394	OMIM|606745
MGE-div	APBB2	0.891343779	0.000303526	Adapter molecule	BrainSpLMD|323;Eurexp|euxassay_007659|corpus striatum, mantle layer, nasal septum, neural retina, turbinate bones, ventral grey horn	OMIM|602710
MGE-div	PRIM2	1.312553654	0.000304276	RNA polymerase	BrainSpLMD|5558;Eurexp|euxassay_018428|incisor, left, marginal layer, molar, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|176636
MGE-div	CYCS	0.681126585	0.000315881	Enzyme: Oxidase	BrainSpLMD|54205;Eurexp|euxassay_000644|Meckel's cartilage, basal plate, calyces, chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, molar, trigeminal V, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|123970;HPO|54205|Autosomal dominant inheritance, Thrombocytopenia
MGE-div	PDZRN3	0.538610811	0.000326079	Unclassified	BrainSpLMD|23024;Eurexp|euxassay_000356|mantle layer	OMIM|609729
MGE-div	UQCR10	0.537195296	0.000332781	Enzyme: Oxidoreductase	BrainSpLMD|29796;Eurexp|euxassay_001948|Meckel's cartilage, adrenal gland, cortex, dorsal root ganglion, foregut-midgut junction, frontal bone primordium, hindgut, incisor, lobe, midgut, molar, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, ventral grey horn, vertebral axis muscle system, vibrissa	OMIM|610843
MGE-div	SRP9	0.470799611	0.000335437	RNA binding protein		OMIM|600707
MGE-div	CDK5RAP2	1.31821338	0.000342341	Cell cycle control protein	BrainSpLMD|55755	OMIM|608201;HPO|55755|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, moderate, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Small cerebral cortex, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-div	SRSF2	0.266689897	0.000343505	Ribonucleoprotein	BrainSpLMD|6427	OMIM|600813;COSMIC||MDS, CLL
MGE-div	PSMB3	0.439957999	0.00034743	Ubiquitin proteasome system protein	BrainSpLMD|5691;Eurexp|euxassay_003314|dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, incisor, molar, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|602176
MGE-div	NEDD4	2.102228206	0.000357307	Ubiquitin proteasome system protein	BrainSpLMD|4734;Eurexp|euxassay_018441|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	OMIM|602278
MGE-div	MTHFD1	1.285571986	0.000363398	Enzyme: Dehydrogenase	BrainSpLMD|4522;Eurexp|euxassay_004845|axial muscle, fundus, incisor, left, left lung, lumen, molar, oesophagus, pancreas, right, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|172460
MGE-div	DAZAP2	0.993705584	0.000371583	RNA binding protein	BrainSpLMD|9802;Eurexp|euxassay_002922|Meckel's cartilage, calyces, incisor, liver, lobe, molar, neural retina, olfactory, pancreas, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|607431
MGE-div	RPL39L	0.849166251	0.000375245	Ribosomal subunit	BrainSpLMD|116832	OMIM|607547
MGE-div	CTD.2192J16.15	0.290096591	0.000380059			
MGE-div	MAT2B	0.971836446	0.000385728	Enzyme: Adenosyltransferase	BrainSpLMD|27430;Eurexp|euxassay_000623|olfactory	OMIM|605527
MGE-div	NUDT21	0.996235005	0.000394586	RNA binding protein	BrainSpLMD|11051	OMIM|604978
MGE-div	DAXX	1.249718606	0.000395921	Adapter molecule	BrainSpLMD|1616	OMIM|603186;COSMIC||pancreatic neuroendocrine tumour, paediatric glioblastoma
MGE-div	NEDD1	1.354244337	0.000406851	Unclassified	BrainSpLMD|121441;Eurexp|euxassay_017529|ventricular layer	OMIM|600372
MGE-div	RP11.51O6.1	0.295615021	0.000413089			
MGE-div	PCBP2	0.610316941	0.00042513	RNA binding protein	BrainSpLMD|5094	OMIM|601210
MGE-div	GINS1	0.724781752	0.000426453	Unclassified	BrainSpLMD|9837	OMIM|610608
MGE-div	BAZ1B	0.870768857	0.000427435	Transcription regulatory protein	BrainSpLMD|9031	OMIM|605681;HPO|9031|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the neck, Anxiety, Arthralgia, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad forehead, Cerebral ischemia, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Dental malocclusion, Depressivity, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Epicanthus, Everted lower lip vermilion, Failure to thrive in infancy, Gait imbalance, Genu valgum, Hallux valgus, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Inguinal hernia, Insomnia, Intellectual disability, Joint stiffness, Kyphosis, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Microcephaly, Microdontia, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Open bite, Overfriendliness, Pelvic kidney, Periorbital edema, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Proteinuria, Protruding ear, Pulmonic stenosis, Redundant skin, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Visual impairment, Wide mouth, Wide nasal bridge
MGE-div	RBBP4P4	0.373138138	0.00043495			
MGE-div	STK17B	0.984809681	0.000437179	Serine/threonine kinase	BrainSpLMD|9262	OMIM|604727
MGE-div	NHLRC2	0.794220787	0.000445384	Unclassified	BrainSpLMD|374354;Eurexp|euxassay_000151|incisor, inferior, oculomotor III, olfactory I, optic II, trigeminal V, vagus X, valve, ventricular layer	
MGE-div	PNN	0.76736396	0.00047742	Adhesion molecule	BrainSpLMD|5411;BrainSpMouseDev|18712	OMIM|603154
MGE-div	ERLIN1	0.327259811	0.000488412	Unclassified	BrainSpLMD|10613	OMIM|611604;HPO|10613|Autosomal recessive inheritance, Clonus, Difficulty walking, Lower limb spasticity, Progressive, Spastic gait, Tip-toe gait
MGE-div	RBBP4	0.670244103	0.00049618	Transcription regulatory protein	BrainSpLMD|5928	OMIM|602923
MGE-div	TMEM209	0.954675055	0.000496408	Integral membrane protein	BrainSpLMD|84928;Eurexp|euxassay_004682|ventricular layer	
MGE-div	CLIC4	1.238848222	0.000498203	Intracellular ligand gated channel	BrainSpLMD|25932	OMIM|606536
MGE-div	CTDSPL2	0.821890346	0.000504744	Unclassified	BrainSpLMD|51496	
MGE-div	IGF2BP1	0.768748005	0.000505092	RNA binding protein	BrainSpLMD|10642;Eurexp|euxassay_000116|capsule, cortex, lens, mesenchyme, metanephros, physiological umbilical hernia, retina	OMIM|608288
MGE-div	RP11.26H16.1	0.269623462	0.000520473			
MGE-div	11-Sep	0.44498326	0.000535696			
MGE-div	JADE1	1.20049202	0.000542438	Unclassified	BrainSpLMD|79960	OMIM|610514
MGE-div	C6orf62	0.254256867	0.000546701	Unclassified	BrainSpLMD|81688	
MGE-div	RNASEH2C	0.665683166	0.000553622	Unclassified	BrainSpLMD|84153	OMIM|610330;HPO|84153|Arrhinencephaly, Autosomal recessive inheritance, CSF lymphocytic pleiocytosis, Cerebral calcification, Cleft eyelid, Death in childhood, Delayed myelination, Dystonia, Elevated hepatic transaminases, Encephalopathy, Generalized hypotonia, Hemiplegia/hemiparesis, Hepatosplenomegaly, Hyperreflexia, Hypoplasia of the corpus callosum, Intellectual disability, profound, Nystagmus, Porencephalic cyst, Progressive, Progressive microcephaly, Severe global developmental delay, Spasticity, Thrombocytopenia
MGE-div	RPSAP58	0.853228235	0.000615756		BrainSpLMD|388524	
MGE-div	RP5.821D11.7	0.969032227	0.000639038			
MGE-div	RP11.553L6.5	0.736037471	0.000676819			
MGE-div	TRIM26	0.651816397	0.000679533	DNA binding protein	BrainSpLMD|7726	OMIM|600830
MGE-div	RP11.254B13.1	0.581544314	0.000725378			
MGE-div	LDHA	0.394577356	0.000731125	Enzyme: Dehydrogenase	BrainSpLMD|3939	OMIM|150000;HPO|3939|Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise intolerance, Increased serum lactate, Increased serum pyruvate, Juvenile onset, Muscle cramps, Muscle stiffness, Myalgia, Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Rigidity
MGE-div	ZC3HAV1	1.423549211	0.000742842	-	BrainSpLMD|56829;Eurexp|euxassay_012472|lobe, thymus primordium	OMIM|607312
MGE-div	HNRNPC	0.2515417	0.000749225	RNA binding protein		OMIM|164020
MGE-div	FANCL	0.848487177	0.000749237	Enzyme: Ligase	BrainSpLMD|55120;Eurexp|euxassay_006857|ventricular layer	OMIM|608111;HPO|55120|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Cafe-au-lait spot, Chromosome breakage, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Phenotypic variability, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
MGE-div	GPANK1	0.808374595	0.000760813	Unclassified	BrainSpLMD|7918	OMIM|142610
MGE-div	HNRNPH3	0.36696887	0.000765167	Ribonucleoprotein	BrainSpLMD|3189;Eurexp|euxassay_013902|ventricular layer	OMIM|602324
MGE-div	PKD2	0.715048995	0.000780686	Membrane transport protein	BrainSpLMD|5311	OMIM|173910;HPO|5311|Autosomal dominant inheritance, Elevated serum creatinine, Incomplete penetrance, Polycystic kidney dysplasia, Progressive, Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease
MGE-div	SSB	0.496958155	0.000790749	RNA binding protein	BrainSpLMD|6741	OMIM|109090
MGE-div	ARL6IP6	0.615515772	0.000797843	Unclassified	BrainSpLMD|151188;Eurexp|euxassay_011620|olfactory, submandibular gland primordium, ventricular layer	OMIM|616495
MGE-div	PET100	0.362292	0.000803166			OMIM|614770;HPO|100131801|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
MGE-div	NCAPD3	0.610946299	0.000836253	Unclassified	BrainSpLMD|23310	OMIM|609276
MGE-div	CCDC152	0.563757308	0.000878868	Unclassified		
MGE-div	GNB2L1	0.31503797	0.000886505			
MGE-div	IMMT	0.367018848	0.000898756	Motor protein	BrainSpLMD|10989;Eurexp|euxassay_010967|adrenal gland, axial muscle, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, liver, mantle layer, metanephros, midgut, pancreas, primitive seminiferous tubules, right lung, stomach, submandibular gland primordium, thymus primordium, thyroid, trigeminal V, vagus X, vibrissa	OMIM|600378
MGE-div	FDPS	0.771434194	0.000909601	Enzyme: Prenyltransferase	BrainSpLMD|2224;Eurexp|euxassay_005185|adenohypophysis, adrenal gland, axial skeleton, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, limb, liver, lung, mandible, maxilla, mesenchyme, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, paraxial mesenchyme, rectum, retina, skeletal muscle, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|134629;HPO|2224|Cutaneous photosensitivity, Porokeratosis
MGE-div	AC019097.7	0.443564712	0.000917352			
MGE-div	HSPA5	0.422966782	0.000928103	Chaperone	BrainSpLMD|3309	OMIM|138120
MGE-div	LITAF	1.037868295	0.000951298	Transcription factor	BrainSpLMD|9516;Eurexp|euxassay_013657|axial skeleton, incisor, molar, submandibular gland primordium, urethra, ventricular layer, vestibular component, vibrissa	OMIM|603795;HPO|9516|Autosomal dominant inheritance, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Heterogeneous, Hypertrophic nerve changes, Hyporeflexia, Juvenile onset, Onion bulb formation, Pes cavus, Segmental peripheral demyelination/remyelination
MGE-div	RNF138	1.105643594	0.000958527	Ubiquitin proteasome system protein	BrainSpLMD|51444;Eurexp|euxassay_008413|brain, facial VII, glossopharyngeal IX, incisor, left lung, metanephros, molar, naris, olfactory, pancreas, peripheral nervous system, pharyngo-tympanic tube, primitive seminiferous tubules, retina, right lung, spinal cord, submandibular gland primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|616319
MGE-div	ZNF738	0.69620925	0.000966194	Transcription regulatory protein	BrainSpLMD|148203	
MGE-div	RHOA	0.547928855	0.000988828	GTPase	BrainSpLMD|387;BrainSpMouseDev|11635	OMIM|165390;COSMIC||diffuse gastric, T cell lymphomas, paediatric Burkitt lymphoma
MGE-div	DCHS1	0.704566662	0.001007588	Adhesion molecule	BrainSpLMD|8642	OMIM|603057;HPO|8642|Age-dependent penetrance, Anal atresia, Anteriorly placed anus, Atresia of the external auditory canal, Autosomal dominant inheritance, Autosomal recessive inheritance, Blepharophimosis, Clinodactyly, Conductive hearing impairment, Congenital onset, Cortical gyral simplification, Cutaneous finger syndactyly, Dental malocclusion, Downturned corners of mouth, Epicanthus, Feeding difficulties, Generalized hypotonia, Growth delay, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Hypospadias, Intellectual disability, Irregular dentition, Joint laxity, Malar flattening, Micrognathia, Microtia, Midface retrusion, Mitral regurgitation, Mitral valve prolapse, Narrow chest, Narrow forehead, Osteopenia, Pachygyria, Ptosis, Renal hypoplasia, Sacral dimple, Scoliosis, Sensorineural hearing impairment, Short 4th metacarpal, Short clavicles, Short fourth metatarsal, Short palpebral fissure, Skeletal dysplasia, Talipes equinovarus, Tented upper lip vermilion, Tracheomalacia, Wide anterior fontanel, Wide cranial sutures, Wide nasal bridge
MGE-div	PID1	0.633671215	0.001058247	Unclassified	BrainSpLMD|55022	OMIM|612930
MGE-div	APRT	1.422669313	0.001068608	Enzyme: Ribosyltransferase	BrainSpLMD|353;Eurexp|euxassay_001689|Meckel's cartilage, axial muscle, olfactory, orbito-sphenoid, vault of skull	OMIM|102600;HPO|353|Autosomal recessive inheritance, Hematuria, Nephrolithiasis, Renal insufficiency
MGE-div	TCTEX1D2	0.288715478	0.001100699	Unclassified	BrainSpLMD|255758	OMIM|617353;HPO|255758|Autosomal recessive inheritance, Brachydactyly, Short stature
MGE-div	BRIX1	1.088831704	0.00110883	Unclassified	BrainSpLMD|55299	
MGE-div	SNRNP200	0.921690772	0.001123203	Ribonucleoprotein	BrainSpLMD|23020	OMIM|601664;HPO|23020|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Attenuation of retinal blood vessels, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Progressive night blindness, Retinal pigment epithelial atrophy, Rod-cone dystrophy, Sensorineural hearing impairment, Visual impairment, Wide nasal bridge
MGE-div	RPS3AP26	0.871119143	0.001123447			
MGE-div	SPATA5	1.389093606	0.001129941	ATPase	BrainSpLMD|166378	OMIM|613940;HPO|166378|Absent speech, Autosomal recessive inheritance, EEG abnormality, Feeding difficulties, Global developmental delay, Intellectual disability, Intellectual disability, severe, Limb hypertonia, Microcephaly, Muscular hypotonia of the trunk, Seizures, Sensorineural hearing impairment, Spasticity
MGE-div	SNRPD3	0.291118433	0.001133806	RNA binding protein	BrainSpLMD|6634	OMIM|601062
MGE-div	NOSIP	0.848622569	0.001146396	Transport/cargo protein	BrainSpLMD|51070	OMIM|616759
MGE-div	TARS	0.546471376	0.001154005	Enzyme: Ligase	BrainSpLMD|6897;Eurexp|euxassay_006234|cortex, left, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|187790
MGE-div	PCNT	0.305146572	0.001203785	Cytoskeletal protein	BrainSpLMD|5116;BrainSpMouseDev|18307	OMIM|605925;HPO|5116|Abnormality of dental enamel, Abnormality of epiphysis morphology, Abnormality of female external genitalia, Abnormality of the metaphysis, Absent earlobe, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Autosomal recessive inheritance, Brachydactyly, Cachexia, Cafe-au-lait spot, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Coxa vara, Craniosynostosis, Delayed skeletal maturation, Dilatation of the cerebral artery, Disproportionate short stature, Downslanted palpebral fissures, Dry skin, Fine hair, Flared metaphysis, Full cheeks, Glaucoma, Global developmental delay, High pitched voice, Hip dysplasia, Hypermetropia, Hypopigmented skin patches, Hypoplasia of dental enamel, Hypoplastic iliac wing, Hypospadias, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Microcephaly, Microdontia, Micrognathia, Micromelia, Microtia, Mild global developmental delay, Moyamoya phenomenon, Multiple cafe-au-lait spots, Narrow face, Narrow pelvis bone, Nasal speech, Postnatal growth retardation, Precocious puberty, Prematurely aged appearance, Prominent nasal bridge, Prominent nose, Proximal femoral epiphysiolysis, Pseudoepiphyses of the metacarpals, Radial bowing, Reduced number of teeth, Retrognathia, Sandal gap, Scoliosis, Sensorineural hearing impairment, Short 1st metacarpal, Short distal phalanx of finger, Short stature, Slender long bone, Sloping forehead, Sparse scalp hair, Tibial bowing, Truncal obesity, Type II diabetes mellitus, Ulnar bowing, Underdeveloped nasal alae, Upslanted palpebral fissure, Wide nasal bridge
MGE-div	RAD54B	0.876774707	0.001212468	ATPase	BrainSpLMD|25788	OMIM|604289;HPO|25788|Lymphoma
MGE-div	MBD4	0.647200212	0.00123717	Transcription regulatory protein	BrainSpLMD|8930	SFARI||Autism, 4 - Minimal evidence;OMIM|603574
MGE-div	BAZ1A	1.210580803	0.001243244	DNA binding protein	BrainSpLMD|11177	OMIM|605680
MGE-div	ACTBP2	0.318002342	0.001255722			
MGE-div	TALDO1	0.930765348	0.001262016	Enzyme: Transaldolase	BrainSpLMD|6888	OMIM|602063;HPO|6888|Abnormal facial shape, Abnormality of glutamine metabolism, Abnormality of the clitoris, Abnormality of the kidney, Anemia, Asthma, Autosomal recessive inheritance, Cirrhosis, Clitoral hypertrophy, Coarctation of aorta, Decreased liver function, Deep philtrum, Depressed nasal bridge, Failure to thrive, Hepatic fibrosis, Hepatomegaly, Hepatosplenomegaly, Hydrops fetalis, Increased serum bile acid concentration, Intrauterine growth retardation, Low-set ears, Micronodular cirrhosis, Oligohydramnios, Pancytopenia, Patent ductus arteriosus, Patent foramen ovale, Poor suck, Premature skin wrinkling, Short philtrum, Small for gestational age, Splenomegaly, Synophrys, Telangiectasia, Thin vermilion border, Thrombocytopenia, Triangular face, Ventricular septal defect, Wide anterior fontanel, Wide mouth
MGE-div	ADCY3	1.150127541	0.001268874	Adenylate cyclase	BrainSpLMD|109;Eurexp|euxassay_018616|facial VII, olfactory, trigeminal V, ventral grey horn	SFARI||Autism, 3 - Suggestive evidence;OMIM|600291
MGE-div	UQCC2	0.687905673	0.001290345	Unclassified	BrainSpLMD|84300;Eurexp|euxassay_000835|basal plate, epidermal component, facial VII, submandibular gland primordium, trigeminal V, ventricular layer	OMIM|614461;HPO|84300|Aggressive behavior, Autosomal recessive inheritance, Cryptorchidism, Depressed nasal bridge, Epicanthus, Global developmental delay, Hyperactivity, Infantile onset, Intrauterine growth retardation, Metabolic acidosis, Neonatal hypotonia, Poor speech, Postaxial polydactyly, Proximal renal tubular acidosis, Seizures, Synophrys, Upslanted palpebral fissure
MGE-div	HNRNPUL2	0.379772987	0.00130941	RNA binding protein	Eurexp|euxassay_018283|olfactory, submandibular gland primordium	
MGE-div	RANBP17	1.151290314	0.001316085	Transport/cargo protein	BrainSpLMD|64901	SFARI||Autism, 2 - Strong candidate;OMIM|606141
MGE-div	MSH6	0.955725843	0.001321668	DNA repair protein	BrainSpLMD|2956;Eurexp|euxassay_006580|embryo	OMIM|600678;COSMIC||colorectal, colorectal, endometrial, ovarian;HPO|2956|Abdominal pain, Abnormality of abdomen morphology, Adenoma sebaceum, Anxiety, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary freckling, Basal cell carcinoma, Cafe-au-lait spot, Colon cancer, Constipation, Death in early adulthood, Death in infancy, Depressivity, Endometrial carcinoma, Ependymoma, Fatigue, Gastrointestinal hemorrhage, Glioblastoma, Hereditary nonpolyposis colorectal carcinoma, Hypermelanotic macule, Hypertonia, Incomplete penetrance, Increased intracranial pressure, Irritability, Leukemia, Lymphoma, Malabsorption, Medulloblastoma, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Neoplasm of the stomach, Neuroblastoma, Rhabdomyosarcoma, Seizures, Weight loss
MGE-div	CHCHD3	0.87647108	0.001326388	Unclassified	BrainSpLMD|54927;Eurexp|euxassay_001805|lobe, orbito-sphenoid, thymus primordium	OMIM|613748
MGE-div	CCNB1	0.670464895	0.001333455	Cell cycle control protein	BrainSpLMD|891	OMIM|123836
MGE-div	MESDC2	0.877962831	0.001359363			
MGE-div	KCTD20	1.474009525	0.001370262	Unclassified	BrainSpLMD|222658;Eurexp|euxassay_010084|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, vagus X	OMIM|615932
MGE-div	THOC1	0.579533069	0.001387055	Transcription regulatory protein	BrainSpLMD|9984;Eurexp|euxassay_006725|embryo	OMIM|606930
MGE-div	SIN3A	1.110881886	0.001407694	Transcription regulatory protein	BrainSpLMD|25942	SFARI||Autism, 4 - Minimal evidence;OMIM|607776;HPO|25942|Abnormality of cardiovascular system morphology, Abnormality of the outer ear, Abnormality of the thorax, Abnormality of the voice, Aggressive behavior, Anisocoria, Anteverted nares, Arachnodactyly, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Brachydactyly, Cafe-au-lait spot, Clinodactyly, Congenital diaphragmatic hernia, Conspicuously happy disposition, Cryptorchidism, Cupped ear, Deeply set eye, Delayed speech and language development, Depressed nasal bridge, Developmental regression, Downslanted palpebral fissures, Dysplastic corpus callosum, Epicanthus, Facial asymmetry, Feeding difficulties in infancy, Fine hair, Flared nostrils, Gastrointestinal atresia, Generalized hypotonia, Global developmental delay, Growth delay, Growth hormone deficiency, Hearing impairment, High anterior hairline, High forehead, High palate, High, narrow palate, Highly arched eyebrow, Hyperactivity, Hypermetropia, Hypertelorism, Hypogonadism, Hypoplasia of the corpus callosum, Hypospadias, Immunodeficiency, Inguinal hernia, Intellectual disability, Intellectual disability, mild, Intestinal atresia, Intrauterine growth retardation, Iris coloboma, Joint hyperflexibility, Joint laxity, Long face, Long philtrum, Macrotia, Medial flaring of the eyebrow, Microcephaly, Micropenis, Microphallus, Microphthalmia, Microretrognathia, Muscular hypotonia, Narrow face, Narrow mouth, Nystagmus, Obesity, Open mouth, Phenotypic variability, Polyhydramnios, Prominent nasal bridge, Proximal placement of thumb, Radial deviation of finger, Recurrent infections, Scoliosis, Short nose, Short palm, Short stature, Short thumb, Single transverse palmar crease, Sleep disturbance, Small for gestational age, Smooth philtrum, Sparse and thin eyebrow, Sporadic, Strabismus, Thick lower lip vermilion, Thick nasal alae, Thin vermilion border, Toe syndactyly, Underdeveloped nasal alae, Upslanted palpebral fissure, Ventriculomegaly, Wide nasal bridge, Wide nose, Widely spaced teeth
MGE-div	ENO1	0.598588253	0.001413062	Enzyme: Hydratase	BrainSpLMD|2023	OMIM|172430
MGE-div	RPS21	0.26031445	0.00144388	Ribosomal subunit	BrainSpLMD|6227	OMIM|180477
MGE-div	RCC2	0.904967453	0.001451372	Cell cycle control protein	BrainSpLMD|55920;Eurexp|euxassay_006452|cortex, hindgut, incisor, left, left lung, marginal layer, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pharyngo-tympanic tube, rectum, right, right lung, stomach, submandibular gland primordium, testis, thymus primordium, trachea, urethra, ventricular layer, vibrissa	OMIM|609587
MGE-div	GLTP	1.097538629	0.001475455	Transport/cargo protein	BrainSpLMD|51228;Eurexp|euxassay_005240|anterior, external, thymus primordium	OMIM|608949
MGE-div	UQCRH	0.533374643	0.00147669	Enzyme: Reductase	Eurexp|euxassay_006525|anterior, axial skeleton, bladder, brain, cortex, epidermis, epithelium, external, footplate, handplate, incisor, inner ear, integumental system, left lung, liver, metanephros, midgut, molar, naso-lacrimal duct, olfactory, pancreas, paraxial mesenchyme, pharyngo-tympanic tube, posterior, rectum, renal/urinary system, rest of mesenchyme, rest of skin, retina, right lung, skeletal muscle, spinal cord, stomach, submandibular gland primordium, thymus primordium, trachea, urethra, vertebral axis muscle system, vibrissa	OMIM|613844
MGE-div	KCTD9	1.193264554	0.001479822	Ion channel	BrainSpLMD|54793;BrainSpMouseDev|69605	OMIM|617265
MGE-div	ING3	0.636228573	0.001541222	Cell cycle control protein	BrainSpLMD|54556	OMIM|607493
MGE-div	EXOG	1.296190613	0.001554099	Unclassified	BrainSpLMD|9941	OMIM|604051
MGE-div	PSMB6	0.469049765	0.00155675	Ubiquitin proteasome system protein	BrainSpLMD|5694	OMIM|600307
MGE-div	GTPBP4	0.785789908	0.001571409	GTPase	BrainSpLMD|23560	
MGE-div	CEP192	0.966101938	0.001604361	Cytoskeletal protein	BrainSpLMD|55125	OMIM|616426
MGE-div	STAG1	0.592826415	0.001606723	Cell cycle control protein	BrainSpLMD|10274	SFARI||Autism, No category;OMIM|604358;COSMIC||colorectal cancer, AML
MGE-div	SUPT7L	0.582186799	0.001607562	Transcription regulatory protein	BrainSpLMD|9913	OMIM|612762
MGE-div	DCUN1D4	0.541593905	0.001665021	Unclassified	BrainSpLMD|23142;Eurexp|euxassay_007138|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|64907	OMIM|612977
MGE-div	COX6A1P2	0.385201807	0.001680013			
MGE-div	GAD2	0.498160708	0.001695194	Enzyme: Decarboxylase	BrainSpLMD|2572;Eurexp|euxassay_001769|dorsal grey horn, lateral ventricle, mantle layer;BrainSpMouseDev|14193	OMIM|138275
MGE-div	BCHE	0.800919248	0.001723386	Enzyme: Esterase	BrainSpLMD|590;BrainSpMouseDev|11824	OMIM|177400
MGE-div	PARP4	1.941112549	0.001730713	Enzyme: Ribosyltransferase	BrainSpLMD|143	OMIM|607519
MGE-div	RIMS2	1.001465121	0.001757527	Unclassified	BrainSpLMD|9699	OMIM|606630
MGE-div	PCBP1	0.354105633	0.001771288	RNA binding protein	BrainSpLMD|5093;Eurexp|euxassay_006545|embryo	OMIM|601209;COSMIC||CRC
MGE-div	CTB.79E8.3	0.388255226	0.001800837			
MGE-div	ILF3	0.279980872	0.001812106	Transcription factor;RNA binding protein	BrainSpLMD|3609	OMIM|603182
MGE-div	ADK	1.302972787	0.001826757	Enzyme: Phosphotransferase	BrainSpLMD|132;Eurexp|euxassay_001699|Meckel's cartilage, basisphenoid bone, bladder, cortex, exoccipital bone, foregut-midgut junction, hindgut, lobe, lung, midgut, molar, nucleus pulposus, oesophagus, orbito-sphenoid, pancreas, pectoral girdle and thoracic body wall, rectum, rib, stomach, submandibular gland primordium, thymus primordium, vault of skull, ventricular layer, vertebra	SFARI||Autism, 4 - Minimal evidence;OMIM|102750;HPO|132|Autosomal recessive inheritance, Cerebral atrophy, Cholestasis, Decreased liver function, Delayed speech and language development, Elevated hepatic transaminases, Failure to thrive, Frontal bossing, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Hypertelorism, Infantile onset, Macrocephaly, Narrow foot, Poor speech, Portal fibrosis, Progressive, Seizures, Skeletal muscle atrophy
MGE-div	DAPK1	0.849300039	0.001874588	Serine/threonine kinase	BrainSpLMD|1612	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600831
MGE-div	UBE2N	0.395886386	0.001898039	Ubiquitin proteasome system protein	BrainSpLMD|7334	OMIM|603679
MGE-div	NDUFB3	0.973180051	0.00190113	Enzyme: Oxidoreductase	BrainSpLMD|4709	OMIM|603839;HPO|4709|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
MGE-div	VPS13B	0.413272226	0.002002595	Transport/cargo protein	BrainSpLMD|157680	SFARI||Autism, No category;OMIM|607817;HPO|157680|Abnormality of skin pigmentation, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Autosomal recessive inheritance, Cat cry, Cerebellar hypoplasia, Childhood-onset truncal obesity, Chorioretinal dystrophy, Clinodactyly of the 5th finger, Convex nasal ridge, Cubitus valgus, Decreased fetal movement, Delayed puberty, Downslanted palpebral fissures, Facial hypotonia, Failure to thrive in infancy, Feeding difficulties in infancy, Finger syndactyly, Generalized hypotonia, Genu valgum, Gingival overgrowth, Global developmental delay, Growth hormone deficiency, High, narrow palate, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Laryngomalacia, Leukopenia, Long eyelashes, Low anterior hairline, Lumbar hyperlordosis, Macrodontia, Macrodontia of permanent maxillary central incisor, Microcephaly, Micrognathia, Mitral valve prolapse, Motor delay, Muscular hypotonia, Myopia, Narrow palm, Neonatal hypotonia, Neurological speech impairment, Neutropenia, Obesity, Open mouth, Optic atrophy, Pes planus, Prominent nasal bridge, Reduced number of teeth, Reduced visual acuity, Sandal gap, Seizures, Short metacarpal, Short metatarsal, Short philtrum, Short stature, Single transverse palmar crease, Slender toe, Small for gestational age, Tapered finger, Thick corpus callosum, Thick eyebrow, Thick hair, Thoracic scoliosis, Visual impairment, Weak cry
MGE-div	POLH	1.663281621	0.002003466	DNA polymerase	BrainSpLMD|5429	OMIM|603968;HPO|5429|Autosomal recessive inheritance, Basal cell carcinoma, Conjunctivitis, Cutaneous melanoma, Cutaneous photosensitivity, Dermal atrophy, Dry skin, Ectropion, Entropion, Freckles in sun-exposed areas, Hypopigmentation of the skin, Keratitis, Melanoma, Photophobia, Poikiloderma, Squamous cell carcinoma, Telangiectasia
MGE-div	ZNF93	1.119276136	0.002033744	Transcription regulatory protein	BrainSpLMD|81931	OMIM|603975
MGE-div	CMC2	0.664153975	0.002045317	Unclassified	BrainSpLMD|56942	
MGE-div	ABAT	1.044330164	0.002114748	Enzyme: Aminotransferase	BrainSpLMD|18;Eurexp|euxassay_001907|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, thymus primordium, trigeminal V, ventricular layer;BrainSpMouseDev|92603	SFARI||Autism, 4 - Minimal evidence;OMIM|137150;HPO|18|Agenesis of corpus callosum, Autosomal recessive inheritance, Cerebellar hypoplasia, Death in childhood, Downslanted palpebral fissures, Global developmental delay, High-pitched cry, Hyperreflexia, Lethargy, Leukodystrophy, Posterior fossa cyst, Retrognathia, Seizures, Severe muscular hypotonia, Tall stature
MGE-div	SLC7A1	1.120065871	0.00219644	Membrane transport protein	BrainSpLMD|6541;Eurexp|euxassay_012248|adrenal gland, incisor, mandible, mantle layer, meninges, molar, orbito-sphenoid, submandibular gland primordium, temporal bone, turbinate, vibrissa	OMIM|104615
MGE-div	TARDBP	0.634372396	0.002218571	DNA binding protein	BrainSpLMD|23435	OMIM|605078;HPO|23435|Amyotrophic lateral sclerosis, Anxiety, Apathy, Autosomal dominant inheritance, Babinski sign, Depressivity, Disinhibition, Dysarthria, Dysphagia, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Perseveration, Rapidly progressive, Respiratory failure, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Stereotypy, Xerostomia
MGE-div	EP300	0.359216102	0.002308144	Transcription regulatory protein	BrainSpLMD|2033;BrainSpMouseDev|108486	SFARI||Autism, 4 - Minimal evidence;OMIM|602700;COSMIC||colorectal, breast, pancreatic, AML, ALL, DLBCL;HPO|2033|Abnormal number of teeth, Abnormality of refraction, Abnormality of the cervical spine, Abnormality of the cornea, Abnormality of the kidney, Abnormality of the pinna, Aganglionic megacolon, Agenesis of corpus callosum, Agoraphobia, Arrhythmia, Atrial septal defect, Autism, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Bifid uterus, Bimanual synkinesia, Broad hallux, Broad thumb, Cafe-au-lait spot, Capillary hemangiomas, Carious teeth, Cataract, Chorioretinal dystrophy, Clinodactyly of the 5th finger, Coloboma, Congenital onset, Constipation, Convex nasal ridge, Cryptorchidism, Deeply set eye, Delayed cranial suture closure, Delayed gross motor development, Delayed skeletal maturation, Delayed speech and language development, Dental crowding, Dental malocclusion, Deviated nasal septum, Dislocated radial head, Downslanted palpebral fissures, Duane anomaly, Duplication of phalanx of hallux, EEG abnormality, Epicanthus, Facial grimacing, Failure to thrive, Feeding difficulties in infancy, Flared iliac wings, Flexion contracture, Frontal bossing, Frontal upsweep of hair, Generalized hypotonia, Glaucoma, Global developmental delay, Hearing impairment, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, High axial triradius, High palate, Highly arched eyebrow, Hirsutism, Hyperactivity, Hyperreflexia, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Hypoplastic iliac wing, Hypospadias, Impulsivity, Intellectual disability, Intellectual disability, mild, Joint hypermobility, Joint laxity, Keloids, Large foramen magnum, Laryngomalacia, Long eyelashes, Low anterior hairline, Low hanging columella, Low posterior hairline, Low-set ears, Microcephaly, Micrognathia, Muscular hypotonia, Narrow mouth, Narrow palate, Nasolacrimal duct obstruction, Neoplasm of the stomach, Obstructive sleep apnea, Overbite, Papillary cystadenoma of the epididymis, Parietal foramina, Patellar dislocation, Patent ductus arteriosus, Pectus excavatum, Pes planus, Phonophobia, Plantar crease between first and second toes, Polydactyly, Polyhydramnios, Poor coordination, Posterior helix pit, Postnatal growth retardation, Premature thelarche, Prominent fingertip pads, Prominent nose, Proptosis, Ptosis, Radial deviation of thumb terminal phalanx, Recurrent upper respiratory tract infections, Renal cell carcinoma, Respiratory distress, Retrognathia, Scoliosis, Seizures, Self-mutilation, Shawl scrotum, Short attention span, Short stature, Single transverse palmar crease, Spina bifida occulta, Sporadic, Stereotypy, Strabismus, Syndactyly, Talon cusp, Tethered cord, Thick eyebrow, Transitional cell carcinoma of the bladder, Truncal obesity, Unsteady gait, Uterine leiomyosarcoma, Variable expressivity, Vascular ring, Ventricular septal defect, Wide anterior fontanel, Wide nasal bridge
MGE-div	MAVS	0.804507014	0.002381624	Unclassified	BrainSpLMD|57506	OMIM|609676
MGE-div	SNHG6	0.53414765	0.002381756			OMIM|612215
MGE-div	CSNK2B	0.376202608	0.002410314	Serine/threonine kinase	BrainSpLMD|1460;BrainSpMouseDev|12784	OMIM|115441
MGE-div	MSI2	0.611890915	0.002413478	RNA binding protein	BrainSpLMD|124540	OMIM|607897;COSMIC||CML
MGE-div	PPIE	0.590822133	0.002447453	Enzyme: Isomerase;RNA binding protein	BrainSpLMD|10450	OMIM|602435
MGE-div	CTNNBL1	0.92757154	0.002470559	Unclassified	BrainSpLMD|56259	OMIM|611537
MGE-div	ALDH9A1	1.022664598	0.002471625	Enzyme: Dehydrogenase	BrainSpLMD|223	OMIM|602733
MGE-div	OLA1P1	0.437077072	0.002544452			
MGE-div	HNRNPKP4	0.376060665	0.00254919			
MGE-div	HDLBP	1.15309572	0.002602786	Transport/cargo protein;RNA binding protein	BrainSpLMD|3069	OMIM|142695
MGE-div	PSME1	0.714995115	0.002610951	Ubiquitin proteasome system protein	BrainSpLMD|5720	OMIM|600654
MGE-div	ZNF620	1.046493245	0.002637741	DNA binding protein	BrainSpLMD|253639	
MGE-div	RIC3	1.610402095	0.0026399	Integral membrane protein	BrainSpLMD|79608	OMIM|610509
MGE-div	WHSC1	0.800418669	0.002845008			
MGE-div	HMGA1	0.494990429	0.002852756	DNA binding protein	BrainSpLMD|3159;Eurexp|euxassay_003457|bladder, cortex, epidermis, glomeruli, head mesenchyme, hindgut, incisor, left lung, lobe, marginal layer, midgut, neural retina, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, pituitary, rectum, respiratory, right lung, spleen primordium, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|15136	OMIM|600701;COSMIC||microfollicular thyroid adenoma, various benign mesenchymal tumours
MGE-div	RP11.98J23.2	0.667403623	0.002901816			
MGE-div	PLIN2	1.066941269	0.002906383	Storage protein	BrainSpLMD|123	OMIM|103195
MGE-div	MEA1	0.546351563	0.002926876	Unclassified	BrainSpLMD|4201	OMIM|143170
MGE-div	RP11.101E13.5	0.331711218	0.002957653			
MGE-div	ANKRD36C	0.564924769	0.00296593			
MGE-div	2-Sep	0.429985736	0.00302223			
MGE-div	HN1L	1.544271772	0.00302271			
MGE-div	FAM114A1	0.702160708	0.003029252	Unclassified	BrainSpLMD|92689;Eurexp|euxassay_002429|Meckel's cartilage, cranium	
MGE-div	FAM76B	0.658260523	0.003124215	Unclassified	BrainSpLMD|143684;Eurexp|euxassay_008153|oesophagus, ventricle	
MGE-div	UQCRQ	0.281260674	0.003157229	Unclassified	BrainSpLMD|27089	OMIM|612080;HPO|27089|Abnormality of extrapyramidal motor function, Absent speech, Ataxia, Athetosis, Autosomal recessive inheritance, Dystonia, Generalized hypotonia, Global developmental delay, Hyperreflexia, Increased serum lactate, Intellectual disability, Intellectual disability, severe
MGE-div	ACADM	0.587891219	0.003208906	Enzyme: Dehydrogenase	BrainSpLMD|34	OMIM|607008;HPO|34|Autosomal recessive inheritance, Cerebral edema, Coma, Decreased plasma carnitine, Elevated hepatic transaminases, Generalized hypotonia, Global developmental delay, Hepatic steatosis, Hepatomegaly, Hyperglycinuria, Hypoglycemia, Lethargy, Medium chain dicarboxylic aciduria, Metabolic acidosis, Seizures, Vomiting
MGE-div	MSN	0.806080625	0.003260145	Cytoskeletal protein	BrainSpLMD|4478;Eurexp|euxassay_009365|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, organ system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	SFARI||Autism, 5 - Hypothesized but untested;OMIM|309845;COSMIC||ALCL;HPO|4478|Decreased antibody level in blood, Eczema, Lymphopenia, Recurrent respiratory infections, Recurrent urinary tract infections, X-linked recessive inheritance
MGE-div	CBX3P9	0.600600503	0.003266163			
MGE-div	RP11.90H3.1	0.504094169	0.003279566			
MGE-div	PPP2R3C	1.06184553	0.003313077	Calcium binding protein	BrainSpLMD|55012	OMIM|615902
MGE-div	RP11.760D2.7	0.284857535	0.003316717			
MGE-div	SKIDA1	0.597028154	0.003324261	Unclassified	BrainSpLMD|387640;Eurexp|euxassay_003843|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	
MGE-div	KIAA1958	1.026387658	0.003327778	Unclassified	Eurexp|euxassay_000143|neural retina	OMIM|617390
MGE-div	FRG1	0.848367026	0.003444092	Unclassified	BrainSpLMD|2483	OMIM|601278;HPO|2483|Abdominal wall muscle weakness, Abnormality of the eyelashes, Abnormality of the retinal vasculature, Autosomal dominant inheritance, Beevor's sign, Calf muscle hypertrophy, Childhood onset, EMG abnormality, Elevated serum creatine phosphokinase, External ophthalmoplegia, Exudative retinal detachment, Facial palsy, Hyperlordosis, Intellectual disability, Mask-like facies, Palpebral edema, Restrictive deficit on pulmonary function testing, Retinal telangiectasia, Scapular winging, Scapulohumeral muscular dystrophy, Seizures, Sensorineural hearing impairment, Shoulder girdle muscle atrophy, Shoulder girdle muscle weakness, Skeletal muscle atrophy, Slow progression, Tongue atrophy
MGE-div	IQCB1	1.005109619	0.003461608	Unclassified	BrainSpLMD|9657;Eurexp|euxassay_012492|ventricle, ventricular layer	OMIM|609237;HPO|9657|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Aplasia/Hypoplasia of the cerebellar vermis, Autosomal recessive inheritance, Cataract, Encephalocele, Global developmental delay, Hemiplegia/hemiparesis, Heterogeneous, Hypertension, Keratoconus, Muscular hypotonia, Nephronophthisis, Nystagmus, Premature ovarian insufficiency, Progressive visual loss, Retinal dystrophy, Rod-cone dystrophy, Seizures, Severe visual impairment, Short stature, Stage 5 chronic kidney disease, Visual impairment
MGE-div	CPSF2	1.826293747	0.003540995	RNA binding protein	BrainSpLMD|53981	OMIM|606028
MGE-div	SNX5	0.406843059	0.003591867	Transport/cargo protein	BrainSpLMD|27131;Eurexp|euxassay_011463|clavicle, cortex, epithelium, exoccipital bone, floor plate, fundus region, hindgut, incisor, lobe, lung, mandible, marginal layer, maxilla, midgut, molar, naris, oesophagus, olfactory, orbito-sphenoid, pancreas, pharyngo-tympanic tube, roof, stomach, submandibular gland primordium, temporal bone, thymus primordium, thyroid, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|605937
MGE-div	HMCES	1.363395335	0.003639365	Unclassified	BrainSpLMD|56941	
MGE-div	BRD2	0.263567119	0.003675351	Transcription regulatory protein	BrainSpLMD|6046;Eurexp|euxassay_012809|dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, mandible, mantle layer, maxilla, orbito-sphenoid, submandibular gland primordium, trigeminal V, vagus X	OMIM|601540
MGE-div	H1FX	0.493954192	0.003687375	DNA binding protein	BrainSpLMD|8971;Eurexp|euxassay_003540|medulla	OMIM|602785
MGE-div	HNRNPA1P8	0.337873879	0.00380385			
MGE-div	SRRM1	0.553683394	0.003814877	Ribonuclease	BrainSpLMD|10250	OMIM|605975
MGE-div	OXCT1	1.276571077	0.003852688	Enzyme: CoA transferase	BrainSpLMD|5019	OMIM|601424;HPO|5019|Autosomal recessive inheritance, Episodic ketoacidosis, Ketonuria, Tachypnea, Vomiting
MGE-div	RBMX	0.278442266	0.00396299	RNA binding protein		OMIM|300199;HPO|27316|Blepharophimosis, Bulbous nose, Coarse facial features, Intellectual disability, moderate, Macroorchidism, Macrotia, Obesity, Periorbital fullness, Prominent supraorbital ridges, Specific learning disability, Thick lower lip vermilion, X-linked recessive inheritance
MGE-div	ACP1	0.489405685	0.00398874	Enzyme: Acid phosphatase	BrainSpLMD|52;Eurexp|euxassay_003011|calyces, chondrocranium, incisor, lobe, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|171500
MGE-div	EIF3CL	0.927198723	0.004060235			
MGE-div	STAG2	0.640644188	0.004186726	Cell cycle control protein	BrainSpLMD|10735;Eurexp|euxassay_016892|ventricular layer	OMIM|300826;COSMIC||bladder carcinoma, glioblastoma, melanoma, Ewing's sarcoma, myeloid neoplasms
MGE-div	RAP1B	0.876013564	0.004192968	GTPase	BrainSpLMD|5908	OMIM|179530;HPO|5908|Abnormal dermatoglyphics, Abnormality of the cardiac septa, Butterfly vertebrae, Cerebral cortical atrophy, Cleft palate, Coarctation of aorta, Conductive hearing impairment, Eversion of lateral third of lower eyelids, Failure to thrive, Feeding difficulties, Hemivertebrae, High palate, Highly arched eyebrow, Hydrocephalus, Hypodontia, Joint hyperflexibility, Long eyelashes, Macrotia, Microcephaly, Microdontia, Muscular hypotonia, Protruding ear, Ptosis, Recurrent infections, Scoliosis, Sensorineural hearing impairment, Short 5th finger, Short columella, Short middle phalanx of finger, Short stature, Sparse lateral eyebrow, Strabismus, Ventriculomegaly, Widely spaced teeth
MGE-div	PWWP2A	0.299623912	0.004300744	Unclassified		COSMIC||Spitzoid tumour
MGE-div	LBR	0.850359363	0.004300831	Integral membrane protein	BrainSpLMD|3930	OMIM|600024;HPO|3930|11 pairs of ribs, Abnormal foot bone ossification, Abnormal joint morphology, Abnormal lung lobation, Abnormal ossification involving the femoral head and neck, Abnormal pelvis bone ossification, Abnormal vertebral ossification, Abnormality of cholesterol metabolism, Abnormality of chromosome segregation, Abnormality of leukocytes, Abnormality of the calcaneus, Abnormality of the gastric mucosa, Abnormality of the scapula, Abnormality of the vertebral spinous processes, Absent or minimally ossified vertebral bodies, Absent toenail, Anterior rib punctate calcifications, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Barrel-shaped chest, Biliary cirrhosis, Bone marrow hypocellularity, Bowing of the long bones, Brachydactyly, Broad palm, Calcinosis, Calcinosis cutis, Calvarial skull defect, Cardiomegaly, Cystic hygroma, Decreased skull ossification, Depressed nasal bridge, Diaphyseal thickening, Disproportionate short-limb short stature, Dysphagia, Elevated alkaline phosphatase, Elevated hepatic transaminases, Epiphyseal stippling, Extramedullary hematopoiesis, Fatigue, Fever, Flared metaphysis, Gastroesophageal reflux, Gastrointestinal hemorrhage, Global developmental delay, Hepatic calcification, Hepatomegaly, Hepatosplenomegaly, High forehead, Horizontal sacrum, Hyperbilirubinemia, Hypertelorism, Hypoplasia of the maxilla, Hypoplastic fingernail, Hypoplastic vertebral bodies, Hyposegmentation of neutrophil nuclei, Intestinal malrotation, Irregular hyperpigmentation, Jaundice, Keratoconjunctivitis sicca, Laryngeal calcification, Lethal skeletal dysplasia, Lip telangiectasia, Long clavicles, Low-set ears, Lymphedema, Macrocephaly, Malar flattening, Mesomelia, Metaphyseal cupping, Micrognathia, Micromelia, Midface retrusion, Misalignment of teeth, Mucosal telangiectasiae, Multiple prenatal fractures, Myalgia, Narrow chest, Neonatal death, Nonimmune hydrops fetalis, Omphalocele, Palmar telangiectasia, Pancreatic islet-cell hyperplasia, Patchy variation in bone mineral density, Platyspondyly, Pleural effusion, Polydactyly, Polyhydramnios, Postaxial foot polydactyly, Postaxial hand polydactyly, Preeclampsia, Prominent forehead, Pruritus, Pulmonary hypoplasia, Punctate vertebral calcifications, Raynaud phenomenon, Rhizomelia, Sandal gap, Sclerodactyly, Scleroderma, Sclerosis of skull base, Severe hydrops fetalis, Severe short-limb dwarfism, Short diaphyses, Short phalanx of finger, Short ribs, Skin rash, Skin ulcer, Splenomegaly, Steatorrhea, Sternal punctate calcifications, Stillbirth, Supernumerary vertebral ossification centers, Telangiectasia of the skin, Tracheal calcification, Ulnar deviation of the hand, Xerostomia
MGE-div	SEPHS1	1.401819644	0.004327979	Enzyme: Synthase	BrainSpLMD|22929	OMIM|600902
MGE-div	SNRPEP4	0.256985447	0.004340058			
MGE-div	RPSAP47	0.382996275	0.004349776			
MGE-div	FAM96A	0.772331023	0.004357595	Unclassified	BrainSpLMD|84191;Eurexp|euxassay_006563|liver	
MGE-div	TMA7	0.337611665	0.004417669	Transcription factor		OMIM|615808
MGE-div	N4BP2	0.974686909	0.00443138	DNA binding protein	BrainSpLMD|55728	
MGE-div	SF3B3	0.940957002	0.004453477	RNA binding protein	BrainSpLMD|23450	OMIM|605592
MGE-div	HNRNPCP2	0.336563926	0.004507775			
MGE-div	SF3B6	0.445166794	0.004513566		BrainSpLMD|51639	OMIM|607835
MGE-div	ZNF273	1.356232995	0.004562887	Transcription factor	BrainSpLMD|10793	OMIM|604756
MGE-div	POU3F4	0.376931598	0.004564624	Transcription factor	BrainSpLMD|5456;BrainSpMouseDev|18757	OMIM|300039;HPO|5456|Conductive hearing impairment, Dilatated internal auditory canal, Progressive sensorineural hearing impairment, Stapes ankylosis, X-linked recessive inheritance
MGE-div	HP1BP3	0.600017159	0.004610554	DNA binding protein	BrainSpLMD|50809	OMIM|616072
MGE-div	FBXW7	0.68152291	0.004613503	Ubiquitin proteasome system protein	BrainSpLMD|55294;BrainSpMouseDev|30242	OMIM|606278;COSMIC||colorectal, endometrial, T-ALL
MGE-div	UPF2	1.114139405	0.00464057	RNA binding protein	BrainSpLMD|26019	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605529
MGE-div	RP1.159A19.3	0.280735732	0.00467226			
MGE-div	SFMBT1	0.92021017	0.004739282	Transcription regulatory protein	BrainSpLMD|51460	OMIM|607319
MGE-div	ANKRD50	0.256966269	0.004742888	Unclassified	BrainSpLMD|57182	
MGE-div	SSRP1	0.575241823	0.004780611	Transcription factor	BrainSpLMD|6749;BrainSpMouseDev|20595	OMIM|604328
MGE-div	RQCD1	0.551740036	0.00504156			
MGE-div	PPAT	1.23884846	0.005132689	Enzyme: Ribosyltransferase	BrainSpLMD|5471;Eurexp|euxassay_012583|left lung, liver, metanephros, midgut, olfactory lobe, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|172450
MGE-div	EIF4EBP2	1.056363778	0.005133376	Translation regulatory protein	BrainSpLMD|1979	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602224
MGE-div	CXXC4	0.942288859	0.0051524	Unclassified	BrainSpLMD|80319;Eurexp|euxassay_008607|bladder, brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, head mesenchyme, incisor, larynx, medullary stroma, mesenchyme, midgut, molar, naris, neural retina, oesophagus, olfactory, pancreas, pelvic girdle, skeletal muscle, spinal cord, stomach, thoracic, thymus primordium, thyroid, trachea, trigeminal V, trunk mesenchyme, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|106413	OMIM|611645
MGE-div	RPL3P4	0.376072667	0.005209537			
MGE-div	XRCC6	0.340256007	0.005229189	DNA binding protein	BrainSpLMD|2547;Eurexp|euxassay_003500|axial muscle, left, orbito-sphenoid, pancreas, right, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|152690
MGE-div	HNRNPA1P35	0.415997841	0.005401309			
MGE-div	NUP155	0.501613376	0.005481047	Transport/cargo protein	BrainSpLMD|9631	OMIM|606694;HPO|9631|Atrial fibrillation, Atrial flutter, Autosomal recessive inheritance
MGE-div	NUDT15	0.809313561	0.005493836	Enzyme: Hydrolase	BrainSpLMD|55270;Eurexp|euxassay_007037|embryo	OMIM|615792
MGE-div	FIGN	1.009708025	0.005543194	ATPase	BrainSpLMD|55137;Eurexp|euxassay_013646|dorsal grey horn, mantle layer, marginal layer, ventral grey horn	OMIM|605295
MGE-div	RPL3P7	0.280059968	0.005576947			
MGE-div	PABPN1	0.429062511	0.00563226	RNA binding protein	BrainSpLMD|8106	OMIM|602279;HPO|8106|Abnormality of the pharynx, Adult onset, Autosomal dominant inheritance, Distal muscle weakness, Dysarthria, Dysphagia, Elevated serum creatine phosphokinase, Facial palsy, Gait disturbance, Limb muscle weakness, Mask-like facies, Myopathy, Neck muscle weakness, Ophthalmoplegia, Progressive, Progressive ptosis, Proximal muscle weakness, Ptosis, Ragged-red muscle fibers, Rimmed vacuoles, Spondylolisthesis
MGE-div	CTPS1	1.511362054	0.005647312	Enzyme: Ligase	BrainSpLMD|1503	OMIM|123860;HPO|1503|Autosomal recessive inheritance, Defective T cell proliferation, Immunodeficiency, Immunoglobulin IgG2 deficiency, Lymphopenia, Severe viral infections
MGE-div	SNRPC	0.666755128	0.005914189	Ribonucleoprotein	BrainSpLMD|6631	OMIM|603522
MGE-div	NFATC3	0.678741686	0.005954323	Transcription factor	BrainSpLMD|4775;BrainSpMouseDev|17788	OMIM|602698
MGE-div	NELL2	0.541773888	0.005968159	Calcium binding protein	BrainSpLMD|4753;Eurexp|euxassay_010538|axial skeleton, brachial plexus, dorsal root ganglion, footplate, handplate, head mesenchyme, incisor, mantle layer, marginal layer, mesenchyme, mesentery, molar, neural retina, olfactory, paraxial mesenchyme, perioptic mesenchyme, peritoneal cavity, rib, ventricular layer	OMIM|602320
MGE-div	RPL7L1	0.679478706	0.006133327	Ribosomal subunit	Eurexp|euxassay_007021|embryo	OMIM|617417
MGE-div	SREK1	0.388139242	0.006152171	RNA binding protein	BrainSpLMD|140890	OMIM|609268
MGE-div	SRGAP2B	0.700272949	0.006155089			OMIM|614703
MGE-div	CCNF	1.017066188	0.006191555	Cell cycle control protein	BrainSpLMD|899;Eurexp|euxassay_002325|lobe, ventricular layer	OMIM|600227;HPO|899|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
MGE-div	RPL3	0.333107923	0.006217452	Ribosomal subunit		OMIM|604163
MGE-div	MT.TE	0.449812598	0.006228002			
MGE-div	ARHGEF40	0.595449171	0.006427467		BrainSpLMD|55701	OMIM|610018
MGE-div	MAU2	0.979913297	0.006436435	Unclassified	BrainSpLMD|23383	OMIM|614560
MGE-div	VPS29	0.561052063	0.006465774	Transport/cargo protein;Enzyme: Hydrolase	BrainSpLMD|51699;Eurexp|euxassay_003692|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|606932
MGE-div	AGL	0.605361173	0.006672183	Enzyme: Glucosidase	BrainSpLMD|178;Eurexp|euxassay_013482|dorsal root ganglion, facial VII, glossopharyngeal IX, skeletal muscle, trigeminal V, ventral grey horn, vertebral axis muscle system	OMIM|610860;HPO|178|Autosomal recessive inheritance, Broad nasal tip, Cardiomyopathy, Deeply set eye, Depressed nasal bridge, Distal amyotrophy, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Full cheeks, Hepatic fibrosis, Hepatomegaly, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Immunodeficiency, Intellectual disability, mild, Malar flattening, Midface retrusion, Muscle weakness, Myopathy, Short stature, Thin upper lip vermilion, Ventricular hypertrophy
MGE-div	IPO9	0.840667354	0.006705244	Transport/cargo protein	BrainSpLMD|55705	
MGE-div	VSIG10	1.050490634	0.006905051	Unclassified	BrainSpLMD|54621	
MGE-div	PHACTR1	0.329571487	0.00704549	Enzyme regulator		OMIM|608723
MGE-div	RHOBTB3	0.356100857	0.007247718	GTPase	BrainSpLMD|22836;Eurexp|euxassay_004272|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|607353
MGE-div	AC011043.1	0.99513469	0.007274688			
MGE-div	MOB3B	0.719303777	0.007317981	Unclassified	BrainSpLMD|79817;Eurexp|euxassay_011555|incisor, molar	OMIM|617652
MGE-div	SPECC1	0.62991124	0.007399159	Unclassified	BrainSpLMD|92521;Eurexp|euxassay_013924|aorta, liver, molar, ventricular layer	OMIM|608793;COSMIC||JMML
MGE-div	PCDH19	0.852988744	0.007409392	Adhesion molecule	BrainSpMouseDev|93556	SFARI||Autism, No category;OMIM|300460;HPO|57526|Absence seizures, Aggressive behavior, Ataxia, Atonic seizures, Cutaneous photosensitivity, EEG abnormality, Febrile seizures, Focal clonic seizures, Focal seizures, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Global developmental delay, Infantile onset, Intellectual disability, Muscular hypotonia, Neurodevelopmental delay, Obtundation status, Pschomotor retardation, Psychosis, Status epilepticus, Tremor, X-linked inheritance
MGE-div	HUNK	0.797311921	0.007518788	Serine/threonine kinase	BrainSpLMD|30811	OMIM|606532
MGE-div	HCN3	1.070034909	0.007540046	Voltage gated channel	BrainSpLMD|57657;Eurexp|euxassay_002974|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|609973
MGE-div	MPP5	1.277157286	0.00761565	Unclassified	BrainSpLMD|64398	OMIM|606958
MGE-div	SASS6	1.439691114	0.007685037	Unclassified	BrainSpLMD|163786;Eurexp|euxassay_004943|retina, ventricular layer	OMIM|609321;HPO|163786|Abnormal cortical bone morphology, Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Pachygyria, Poor speech, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-div	SRRM2	0.411346156	0.007726236	RNA binding protein	BrainSpLMD|23524;Eurexp|euxassay_008167|embryo	OMIM|606032
MGE-div	MRPL51	0.718884951	0.007726994	Ribosomal subunit	BrainSpLMD|51258	OMIM|611855
MGE-div	SH3BGRL	0.673577809	0.007773123	Unclassified	BrainSpLMD|6451	OMIM|300190
MGE-div	CNTLN	0.795449632	0.007789911	Unclassified	BrainSpLMD|54875	OMIM|611870
MGE-div	THOC3	0.55470354	0.00782796	RNA binding protein		OMIM|606929
MGE-div	HMGXB4	0.475839619	0.00802212	DNA binding protein	BrainSpLMD|10042;BrainSpMouseDev|46664	OMIM|604702
MGE-div	DIS3L	1.218981191	0.008024786	Unclassified	BrainSpLMD|115752	OMIM|614183
MGE-div	LRIG2	0.377710188	0.00814929	Cell surface receptor	BrainSpLMD|9860	OMIM|608869;HPO|9860|Autosomal recessive inheritance, Constipation, Cryptorchidism, Enuresis, Hydronephrosis, Recurrent urinary tract infections, Renal insufficiency, Urethral obstruction, Urinary incontinence, Urinary urgency, Vesicoureteral reflux
MGE-div	SEC11A	0.614099606	0.008228772	Aminopeptidase	BrainSpLMD|23478;Eurexp|euxassay_003417|Meckel's cartilage, basisphenoid bone, calyces, cervical, cervico-thoracic, clavicle, dorsal root ganglion, glossopharyngeal IX, incisor, mantle layer, olfactory, orbital fissure, orbito-sphenoid, pancreas, respiratory, submandibular gland primordium, testis, thoracic, trigeminal V, vagus X, ventral grey horn, vibrissa	
MGE-div	IPO7	0.793349799	0.008298927	Transport/cargo protein	BrainSpLMD|10527	OMIM|605586
MGE-div	MAGI1	0.438533663	0.008375085	Cell junction protein	BrainSpLMD|9223;Eurexp|euxassay_016214|axial skeleton, clavicle, femur, fibula, humerus, pelvic girdle, rib, scapula, tibia	OMIM|602625
MGE-div	ZGRF1	0.619200389	0.008578672	Unclassified	BrainSpLMD|55345;Eurexp|euxassay_012482|ventricular layer	
MGE-div	TMBIM6	0.329110112	0.00862532	Integral membrane protein	BrainSpLMD|7009	OMIM|600748
MGE-div	TMEM230	0.645350689	0.008674171	Integral membrane protein	BrainSpLMD|29058	OMIM|617019
MGE-div	HSPA14	1.392747785	0.008752113	Chaperone	BrainSpLMD|51182	OMIM|610369
MGE-div	YY1	0.525352039	0.008801498	Transcription factor	BrainSpLMD|7528	SFARI||Autism, No category;OMIM|600013
MGE-div	COPS6	0.447186666	0.008820335	Cell cycle control protein	BrainSpLMD|10980	OMIM|614729
MGE-div	HSPD1P1	0.279683529	0.009018368			
MGE-div	USP48	0.875213566	0.009069448	Ubiquitin proteasome system protein	BrainSpLMD|84196	OMIM|617445
MGE-div	ZNF331	0.684233233	0.009277713	DNA binding protein	BrainSpLMD|55422	OMIM|606043;COSMIC||follicular thyroid adenoma
MGE-div	TSN	0.610991109	0.009316844	DNA binding protein	BrainSpLMD|7247	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600575
MGE-div	HFM1	0.766964342	0.009436345	Unclassified	BrainSpLMD|164045	OMIM|615684;HPO|164045|Amenorrhea, Autosomal recessive inheritance, Increased circulating gonadotropin level, Premature ovarian insufficiency
MGE-div	RMI1	1.343228289	0.009498423	Unclassified	BrainSpLMD|80010	OMIM|610404
MGE-div	UHRF1BP1	0.860887642	0.009580428	Unclassified	BrainSpLMD|54887	
MGE-div	POLE2	0.76422495	0.009778111	DNA polymerase	BrainSpLMD|5427;Eurexp|euxassay_006546|choroid invagination, choroid plexus, diaphragm, extrinsic, intrinsic, mesenchyme, paraxial mesenchyme, roof plate, vertebral axis muscle system	OMIM|602670
MGE-div	LINC00342	0.563574472	0.009809516			
MGE-IPC1	TROAP	3.923393213	0	Adhesion molecule	BrainSpLMD|10024	OMIM|603872
MGE-IPC1	CCNA1	3.860111397	0	Cell cycle control protein	BrainSpLMD|8900	OMIM|604036
MGE-IPC1	PIF1	3.710298234	0	DNA helicase	BrainSpLMD|80119;Eurexp|euxassay_007343|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|610953
MGE-IPC1	NEK2	3.672720233	0	Serine/threonine kinase	BrainSpLMD|4751	OMIM|604043;HPO|4751|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
MGE-IPC1	CDC20	3.664058869	0	Cell cycle control protein	BrainSpLMD|991;Eurexp|euxassay_005724|hypothalamus, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|603618
MGE-IPC1	PLK1	3.661039232	0	Serine/threonine kinase	BrainSpLMD|5347	OMIM|602098
MGE-IPC1	HJURP	3.642576301	0	Unclassified	BrainSpLMD|55355	OMIM|612667
MGE-IPC1	CCNB1	3.630735565	0	Cell cycle control protein	BrainSpLMD|891	OMIM|123836
MGE-IPC1	BUB1	3.616001653	0	Serine/threonine kinase	BrainSpLMD|699;Eurexp|euxassay_018012|3rd ventricle, 4th ventricle, adrenal gland, cochlea, cochlear duct, cortex, foregut-midgut junction, incisor, liver, liver and biliary system, loop, lung, metanephros, midgut, molar, naris, pancreas, penis, retina, rib, submandibular gland primordium, testis, thymus primordium, tongue, turbinate bones, ventricular layer, vibrissa	OMIM|602452;HPO|699|Abnormality of vision, Ascites, Cataract, Corneal opacity, Dandy-Walker malformation, Epicanthus, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Polyhydramnios, Short stature, Triangular face
MGE-IPC1	KIF20A	3.561023	0	Motor protein	BrainSpLMD|10112;Eurexp|euxassay_004675|ventricular layer	OMIM|605664
MGE-IPC1	ASPM	3.559332743	0	Unclassified	BrainSpLMD|259266	SFARI||Autism, 3 - Suggestive evidence;OMIM|605481;HPO|259266|Abnormal cortical bone morphology, Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Congenital onset, Cortical gyral simplification, Delayed speech and language development, Global developmental delay, Heterotopia, Highly arched eyebrow, Hyperreflexia, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Motor delay, Narrow forehead, Pachygyria, Proptosis, Short stature, Sloping forehead, Small cerebral cortex, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-IPC1	UBE2C	3.551016366	0	Ubiquitin proteasome system protein	BrainSpLMD|11065	OMIM|605574
MGE-IPC1	CENPA	3.462303938	0	DNA binding protein	BrainSpLMD|1058	OMIM|117139
MGE-IPC1	CDKN3	3.392357261	0	Dual specificity phosphatase	BrainSpLMD|1033;Eurexp|euxassay_014422|axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, orbito-sphenoid, pelvic girdle, temporal bone, tibia, turbinate, vault of skull	OMIM|123832
MGE-IPC1	CCNB2	3.364717103	0	Cell cycle control protein	BrainSpLMD|9133;Eurexp|euxassay_004323|axial muscle, ventricular layer	OMIM|602755
MGE-IPC1	CDCA8	3.36104553	0	Cell cycle control protein	BrainSpLMD|55143	OMIM|609977
MGE-IPC1	KIF23	3.317701892	0	Motor protein	BrainSpLMD|9493;Eurexp|euxassay_006188|incisor, lung, mantle layer, marginal layer, olfactory, submandibular gland primordium, thymus primordium, thyroid, ventricular layer	OMIM|605064;HPO|9493|Abnormal cellular phenotype, Abnormal proerythroblast morphology, Anemia, Anisocytosis, Fatigue, Hyperbilirubinemia, Increased mean corpuscular volume, Increased serum iron, Increased total iron binding capacity, Poikilocytosis
MGE-IPC1	NMU	3.315015501	0	Ligand	BrainSpLMD|10874	OMIM|605103
MGE-IPC1	CENPF	3.313242434	0	Cell cycle control protein	BrainSpLMD|1063	OMIM|600236
MGE-IPC1	TPX2	3.285217125	0	Cell cycle control protein	BrainSpLMD|22974	OMIM|605917
MGE-IPC1	KIF14	3.268218302	0	Motor protein	BrainSpLMD|9928	OMIM|611279;HPO|9928|Agenesis of corpus callosum, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral hypoplasia, Intrauterine growth retardation, Microcephaly, Oligohydramnios, Renal agenesis, Renal hypoplasia, Rocker bottom foot, Sloping forehead
MGE-IPC1	TOP2A	3.26660295	0	Enzyme: Topoisomerase	BrainSpLMD|7153	OMIM|126430;HPO|7153|Elevated urinary catecholamines, Neoplasm of the nervous system
MGE-IPC1	FAM83D	3.251222258	0	Unclassified	BrainSpLMD|81610;Eurexp|euxassay_006378|olfactory, ventricular layer	
MGE-IPC1	ARHGEF39	3.197947123	0	Guanine nucleotide exchange factor;Unclassified		
MGE-IPC1	KPNA2	3.185477405	0	Transport/cargo protein	BrainSpLMD|3838	OMIM|600685
MGE-IPC1	PTTG1	3.182062683	0	Transcription regulatory protein	BrainSpLMD|9232	OMIM|604147
MGE-IPC1	CENPE	3.166435992	0	DNA binding protein	BrainSpLMD|1062	OMIM|117143;HPO|1062|Abnormality of dental enamel, Absent earlobe, Autosomal recessive inheritance, Cachexia, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Hip dysplasia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Metaphyseal sclerosis, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Partial agenesis of the corpus callosum, Prematurely aged appearance, Prominent nose, Reduced number of teeth, Round face, Sandal gap, Seizures, Short foot, Short stature, Sloping forehead, Small hand, Sparse scalp hair
MGE-IPC1	ARHGAP11A	3.157411134	0	GTPase activating protein	BrainSpLMD|9824;Eurexp|euxassay_018145|excretory component, hindgut, incisor, mantle layer, marginal layer, meninges, midgut, molar, neural retina, olfactory, stomach, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|610589
MGE-IPC1	TTK	3.13103214	0	Dual specificity kinase	BrainSpLMD|7272	OMIM|604092
MGE-IPC1	KIF2C	3.082649551	0	Motor protein	BrainSpLMD|11004;Eurexp|euxassay_003601|4th ventricle, bladder, forebrain, hindbrain, hindlimb, incisor, limb, liver, lung, metanephros, midbrain, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pancreas, penis, pharyngo-tympanic tube, respiratory, retina, spinal cord, submandibular gland primordium, testis, thymus primordium, thyroid, tongue, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|604538
MGE-IPC1	CKAP2L	3.072068675	0	Unclassified	BrainSpLMD|150468;Eurexp|euxassay_002011|thymus primordium, ventricular layer	OMIM|616174;HPO|150468|2-4 toe syndactyly, Aphasia, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Broad forehead, Cerebellar atrophy, Clinodactyly of the 5th finger, Cryptorchidism, Decreased body weight, Delayed skeletal maturation, Dysphasia, Dystonia, Echolalia, Finger syndactyly, Frontal bossing, Frontal hirsutism, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Low hanging columella, Microcephaly, Microdontia, Mutism, Optic atrophy, Postnatal growth retardation, Prominent forehead, Prominent nasal bridge, Proptosis, Seizures, Severe short stature, Short philtrum, Single transverse palmar crease, Specific learning disability, Thin vermilion border, Underdeveloped nasal alae, Ventricular septal defect, Visual impairment, Wide nasal bridge, Wide nose
MGE-IPC1	KIF11	3.06392815	0	Motor protein	BrainSpLMD|3832	OMIM|148760;HPO|3832|Abnormal toenail morphology, Abnormality of retinal pigmentation, Anteverted nares, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Broad nasal tip, Chorioretinal dysplasia, Cortical gyral simplification, Deep philtrum, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Flat occiput, Global developmental delay, Intellectual disability, Intellectual disability, mild, Leukonychia, Long philtrum, Lymphedema, Mandibular prognathia, Melanonychia, Microcephaly, Muscular hypotonia, Myopia, Protruding ear, Sloping forehead, Specific learning disability, Thick lower lip vermilion, Thin upper lip vermilion
MGE-IPC1	SGOL2	3.055444858	0			
MGE-IPC1	AURKA	3.048162299	0	Serine/threonine kinase	BrainSpLMD|6790;Eurexp|euxassay_018753|orbito-sphenoid, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|603072
MGE-IPC1	CDC25B	3.047959562	0	Dual specificity phosphatase	BrainSpLMD|994	OMIM|116949
MGE-IPC1	DEPDC1	3.04316996	0	Unclassified	BrainSpLMD|55635	OMIM|612002
MGE-IPC1	CCNA2	3.042103958	0	Cell cycle control protein	BrainSpLMD|890	OMIM|123835
MGE-IPC1	MKI67	3.01605576	0	Cell cycle control protein	BrainSpLMD|4288	OMIM|176741
MGE-IPC1	CDCA2	2.969927283	0	Unclassified	BrainSpLMD|157313;Eurexp|euxassay_000111|cortex, marginal layer, metanephros, midbrain, thalamus, ventricular layer	
MGE-IPC1	GTSE1	2.962789678	0	Unclassified	BrainSpLMD|51512	OMIM|607477
MGE-IPC1	DEPDC1B	2.959944284	0	Unclassified	BrainSpLMD|55789	OMIM|616073
MGE-IPC1	CCNF	2.939390857	0	Cell cycle control protein	BrainSpLMD|899;Eurexp|euxassay_002325|lobe, ventricular layer	OMIM|600227;HPO|899|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
MGE-IPC1	NUF2	2.931988025	0	Cytoskeletal associated protein;Cell cycle control protein	BrainSpLMD|83540	OMIM|611772
MGE-IPC1	BIRC5	2.931679601	0	Adapter molecule	BrainSpLMD|332	OMIM|603352
MGE-IPC1	PRC1	2.911545162	0	Cell cycle control protein	BrainSpLMD|9055	OMIM|603484
MGE-IPC1	AURKB	2.909040827	0	Serine/threonine kinase	BrainSpLMD|9212	OMIM|604970
MGE-IPC1	NUSAP1	2.902060274	0	Cell cycle control protein	BrainSpLMD|51203	OMIM|612818
MGE-IPC1	KIF18A	2.896830067	0	Motor protein	BrainSpLMD|81930	OMIM|611271
MGE-IPC1	CDCA3	2.889209877	0	Unclassified	BrainSpLMD|83461;Eurexp|euxassay_004852|cortex, left, marginal layer, mesenchyme, olfactory, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventral grey horn, ventricular layer	OMIM|607749
MGE-IPC1	ECT2	2.880578192	0	Guanine nucleotide exchange factor	BrainSpLMD|1894;Eurexp|euxassay_018792|marginal layer, ventricular layer	OMIM|600586
MGE-IPC1	MAD2L1	2.86394884	0	Cell cycle control protein	BrainSpLMD|4085	OMIM|601467
MGE-IPC1	KIF18B	2.842842435	0	Unclassified		OMIM|614570
MGE-IPC1	AF001548.5	2.839043679	0			
MGE-IPC1	KIF4A	2.829425587	0	DNA binding protein	BrainSpLMD|24137;Eurexp|euxassay_017959|Meckel's cartilage, chondrocranium, incisor, nasal capsule	OMIM|300521;HPO|24137|Abnormal facial shape, Intellectual disability, Poor speech, Seizures, X-linked recessive inheritance
MGE-IPC1	DLGAP5	2.827003793	0	Cell cycle control protein	BrainSpLMD|9787	
MGE-IPC1	SPAG5	2.825667972	0	Cytoskeletal associated protein	BrainSpLMD|10615	OMIM|615562
MGE-IPC1	PARPBP	2.820185501	0	Unclassified	BrainSpLMD|55010	OMIM|613687
MGE-IPC1	PBK	2.819194141	0	Serine/threonine kinase	BrainSpLMD|55872;Eurexp|euxassay_018747|adrenal gland, cervical, cervico-thoracic, incisor, liver, mandible, marginal layer, maxilla, metanephros, molar, naris, neural retina, olfactory, pancreas, sublingual gland primordium, thoracic, thymus primordium, thyroid, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|611210
MGE-IPC1	KNSTRN	2.800815392	0	Unclassified		OMIM|614718;COSMIC||SCC
MGE-IPC1	CASC5	2.784094119	0			
MGE-IPC1	CDC25C	2.766574057	0	Dual specificity phosphatase	BrainSpLMD|995	OMIM|157680
MGE-IPC1	CDK1	2.762270073	0	Serine/threonine kinase	BrainSpLMD|983	OMIM|116940
MGE-IPC1	FAM64A	2.745981186	0			
MGE-IPC1	NEIL3	2.704907139	0	Enzyme: Glycosylase	BrainSpLMD|55247	OMIM|608934
MGE-IPC1	SGOL1	2.703527397	0			
MGE-IPC1	SAPCD2	2.699744742	0	Unclassified	BrainSpLMD|89958	OMIM|612057
MGE-IPC1	HMGB2	2.693663321	0	Transcription regulatory protein	BrainSpLMD|3148;Eurexp|euxassay_019251|incisor, lobe, lung, marginal layer, metanephros, molar, neural retina, oesophagus, pancreas, pituitary, submandibular gland primordium, thymus primordium, thyroid, trachea, turbinate bones, valve, ventricle, ventricular layer, vertebral axis muscle system	OMIM|163906
MGE-IPC1	FBXO5	2.681718156	0	Cell cycle control protein	BrainSpLMD|26271;Eurexp|euxassay_012335|marginal layer, ventricular layer	OMIM|606013
MGE-IPC1	CKS2	2.677770404	0	Cell cycle control protein	BrainSpLMD|1164	OMIM|116901
MGE-IPC1	RACGAP1	2.651762997	0	GTPase activating protein	BrainSpLMD|29127;Eurexp|euxassay_005572|dorsal grey horn, ventricular layer	OMIM|604980
MGE-IPC1	EEF1A1P19	2.605419694	0			
MGE-IPC1	CKAP2	2.595102255	0	Cytoskeletal associated protein	BrainSpLMD|26586;Eurexp|euxassay_001740|thymus primordium, ventricular layer	OMIM|611569
MGE-IPC1	NDC80	2.587951054	0	Cell cycle control protein	BrainSpLMD|10403;Eurexp|euxassay_006923|embryo	OMIM|607272
MGE-IPC1	BUB1B	2.577920033	0	Serine/threonine kinase	BrainSpLMD|701;Eurexp|euxassay_018755|cortex, ear, hindgut, incisor, lobe, lung, mandible, marginal layer, maxilla, midgut, molar, neural retina, oesophagus, olfactory, orbito-sphenoid, pancreas, rectum, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, trachea, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ, wall	OMIM|602860;COSMIC||rhabdomyosarcoma;HPO|701|Abnormality of vision, Agenesis of corpus callosum, Ambiguous genitalia, Anteverted nares, Ascites, Autosomal recessive inheritance, Bifid scrotum, Brachycephaly, Cataract, Cerebellar hypoplasia, Cerebral hypoplasia, Cleft palate, Combined immunodeficiency, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Epicanthus, Feeding difficulties in infancy, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Glaucoma, Global developmental delay, Hereditary nonpolyposis colorectal carcinoma, High forehead, Hydrocephalus, Hypertelorism, Hypodysplasia of the corpus callosum, Hypospadias, Increased nuchal translucency, Intellectual disability, Intellectual disability, profound, Intrauterine growth retardation, Leukemia, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Muscular dystrophy, Neoplasm of the stomach, Nephroblastoma, Nystagmus, Oligohydramnios, Phenotypic variability, Polyhydramnios, Posteriorly rotated ears, Postnatal growth retardation, Premature chromatid separation, Renal cell carcinoma, Renal cyst, Rhabdomyosarcoma, Severe global developmental delay, Short neck, Short nose, Short stature, Short sternum, Small for gestational age, Transitional cell carcinoma of the bladder, Triangular face, Triangular mouth, Upslanted palpebral fissure, Uterine leiomyosarcoma, Ventriculomegaly, Wide nose
MGE-IPC1	TRIM59	2.575035484	0	Ubiquitin proteasome system protein		OMIM|616148
MGE-IPC1	RTKN2	2.553360092	0	Unclassified	BrainSpLMD|219790	
MGE-IPC1	TACC3	2.531133427	0	Cell cycle control protein	BrainSpLMD|10460;Eurexp|euxassay_003324|marginal layer, nucleus pulposus, optic chiasma, optic stalk, submandibular gland primordium, ventral grey horn, ventricular layer	OMIM|605303
MGE-IPC1	ANLN	2.517792718	0	Structural protein	BrainSpLMD|54443;Eurexp|euxassay_004352|ventricular layer	OMIM|616027;HPO|54443|Autosomal dominant inheritance, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease
MGE-IPC1	SMC4	2.499282153	0	Structural protein	BrainSpLMD|10051;Eurexp|euxassay_017379|incisor, liver, lung, metanephros, molar, neural retina, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|605575
MGE-IPC1	TUBB4B	2.470131294	0	Structural protein	BrainSpLMD|10383	OMIM|602660
MGE-IPC1	NCAPG	2.412764816	0	DNA binding protein	BrainSpLMD|64151;Eurexp|euxassay_013748|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|606280
MGE-IPC1	CKS1B	2.395896905	0	Cell cycle control protein		OMIM|116900
MGE-IPC1	KIF22	2.390107267	0	DNA binding protein	BrainSpLMD|3835	OMIM|603213;HPO|3835|Abnormal calcification of the carpal bones, Abnormality of the patella, Abnormality of the sacrum, Anteverted nares, Autosomal dominant inheritance, Broad distal phalanx of finger, Carpal bone hypoplasia, Caudal interpedicular narrowing, Congenital hip dislocation, Delayed patellar ossification, Delayed phalangeal epiphyseal ossification, Depressed nasal bridge, Dislocated radial head, Enlarged thorax, Flared metaphysis, Flat capital femoral epiphysis, Frontal bossing, Generalized hypotonia, Genu valgum, Global developmental delay, Hip dislocation, Hypoplasia of the capital femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Joint laxity, Kyphosis, Large joint dislocations, Laryngeal stenosis, Laryngotracheomalacia, Long distal phalanx of finger, Long proximal phalanx of finger, Macrocephaly, Malar flattening, Metaphyseal irregularity, Micromelia, Midface retrusion, Nail dysplasia, Narrow femoral neck, Osteoarthritis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Short nose, Short stature, Skeletal dysplasia, Slender distal phalanx of finger, Slender metacarpals, Slender proximal phalanx of finger, Small epiphyses, Soft skin, Spinal dysraphism, Spondyloepimetaphyseal dysplasia, Streaky metaphyseal sclerosis, Wide nose
MGE-IPC1	PSRC1	2.369252576	0	Unclassified	BrainSpLMD|84722;Eurexp|euxassay_003651|left lung, marginal layer, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|613126
MGE-IPC1	KIFC1	2.36540804	0	Motor protein	Eurexp|euxassay_010691|marginal layer, ventricular layer	OMIM|603763
MGE-IPC1	STIL	2.363046329	0	Unclassified	BrainSpLMD|6491	OMIM|181590;COSMIC||T-ALL;HPO|6491|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Congenital onset, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-IPC1	ARHGAP11B	2.361867401	0	Unclassified		SFARI||Autism, No category;OMIM|616310
MGE-IPC1	NDE1	2.360633489	0	Cytoskeletal associated protein	BrainSpLMD|54820;Eurexp|euxassay_010375|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, sensory organ, skeleton, tail, ventricular layer, vertebral axis muscle system, visceral organ;BrainSpMouseDev|43046	OMIM|609449;HPO|54820|Agenesis of corpus callosum, Athetosis, Autosomal recessive inheritance, Cerebellar hypoplasia, Congenital onset, Cortical gyral simplification, Generalized myoclonic seizures, Global developmental delay, Hydranencephaly, Hyperreflexia, Hypoplasia of the brainstem, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Lissencephaly, Macrotia, Microcephaly, Multiple joint contractures, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Proptosis, Seizures, Self-mutilation, Short stature, Skeletal muscle atrophy, Sloping forehead, Spastic tetraplegia, Talipes equinovarus, Ventriculomegaly
MGE-IPC1	IQGAP3	2.310169066	0	GTPase activating protein	BrainSpLMD|128239	SFARI||Autism, 4 - Minimal evidence
MGE-IPC1	GPSM2	2.307960473	0	Cell cycle control protein		OMIM|609245;HPO|29899|Arachnoid cyst, Autosomal recessive inheritance, Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus callosum, Gray matter heterotopias, Hydrocephalus, Hypoplasia of the corpus callosum, Large foramen magnum, Partial agenesis of the corpus callosum, Polymicrogyria, Severe sensorineural hearing impairment, Ventriculomegaly
MGE-IPC1	KIAA1524	2.294901783	0			
MGE-IPC1	DBF4	2.284910754	0	Cell cycle control protein	BrainSpLMD|10926;Eurexp|euxassay_012740|ventricular layer	OMIM|604281
MGE-IPC1	NCAPD2	2.254411482	0	DNA binding protein	BrainSpLMD|9918;Eurexp|euxassay_005651|embryo	OMIM|615638
MGE-IPC1	KIF15	2.241185621	0	Cell cycle control protein	BrainSpLMD|56992	OMIM|617569
MGE-IPC1	ARL6IP1	2.2406796	0	Membrane transport protein	BrainSpLMD|23204	OMIM|607669;HPO|23204|Absent Achilles reflex, Autosomal recessive inheritance, Difficulty walking, Hyperactive patellar reflex, Inability to walk, Scissor gait, Sensory neuropathy, Spastic paraplegia
MGE-IPC1	FOXM1	2.240300292	0	Transcription factor	BrainSpLMD|2305;BrainSpMouseDev|14012	OMIM|602341
MGE-IPC1	NCAPH	2.167520511	0	Cell cycle control protein	BrainSpLMD|23397;Eurexp|euxassay_002558|ventricular layer	OMIM|602332
MGE-IPC1	ZWINT	2.159688928	0	Cell cycle control protein	BrainSpLMD|11130;Eurexp|euxassay_009942|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, valve, vestibulocochlear VIII	OMIM|609177
MGE-IPC1	SPC25	2.13894633	0	Cell cycle control protein	BrainSpLMD|57405;Eurexp|euxassay_000451|mantle layer, medulla oblongata, ventral grey horn, ventricular layer	OMIM|609395
MGE-IPC1	KIF20B	2.103434358	0	Cell cycle control protein	BrainSpLMD|9585	OMIM|605498
MGE-IPC1	MIS18BP1	2.084495832	0	Transcription regulatory protein	BrainSpLMD|55320;Eurexp|euxassay_004198|ventricular layer	
MGE-IPC1	ASCL1	2.00991192	0	Transcription factor	BrainSpLMD|429;BrainSpMouseDev|16941	OMIM|100790;HPO|429|Abnormality of temperature regulation, Abnormality of the cardiovascular system, Abnormality of the mouth, Aganglionic megacolon, Autonomic dysregulation, Autosomal dominant inheritance, Breathing dysregulation, Central hypoventilation, Central sleep apnea, Constipation, Death in infancy, Downslanted palpebral fissures, Dysautonomia, Failure to thrive, Feeding difficulties, Ganglioneuroblastoma, Ganglioneuroma, Gastroesophageal reflux, Hyperhidrosis, Intellectual disability, Low-set ears, Muscular hypotonia, Posteriorly rotated ears, Seizures, Small for gestational age, Strabismus
MGE-IPC1	CEP70	1.974796528	0	Structural protein	BrainSpLMD|80321	OMIM|614310
MGE-IPC1	CIT	1.96072642	0	Serine/threonine kinase	BrainSpLMD|11113;Eurexp|euxassay_014352|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, cervical region, clavicle, femur, fibula, humerus, hyoid bone, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, thyroid, tibia, turbinate bones, vault of skull;BrainSpMouseDev|12488	OMIM|605629;HPO|11113|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Bulbous nose, Cerebellar hypoplasia, Congenital onset, Cortical gyral simplification, Failure to thrive, Global developmental delay, Heterotopia, Hyperreflexia, Hypertelorism, Hypoplasia of the brainstem, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Macrotia, Microcephaly, Pachygyria, Renal agenesis, Short stature, Sloping forehead, Spasticity, Thick vermilion border, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vesicoureteral reflux
MGE-IPC1	C21orf58	1.944038335	0	Unclassified	BrainSpLMD|54058	
MGE-IPC1	ANP32E	1.921181411	0	Unclassified	BrainSpLMD|81611	OMIM|609611
MGE-IPC1	PRR11	1.90112776	0	Unclassified	BrainSpLMD|55771	OMIM|615920
MGE-IPC1	RAD21	1.861948259	0	DNA binding protein	BrainSpLMD|5885	OMIM|606462;COSMIC||AML, endometrium, colorectal, lung, Cornelia de Lange syndrome-4;HPO|5885|Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Clinodactyly of the 5th finger, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downturned corners of mouth, Elbow dislocation, Exostoses, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phenotypic variability, Phthisis bulbi, Premature birth, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Smooth philtrum, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Vesicoureteral reflux, Wide nasal bridge, Widely spaced teeth
MGE-IPC1	TUBA1B	1.829148115	0	Structural protein	BrainSpLMD|10376	OMIM|602530
MGE-IPC1	BUB3	1.8218486	0	Cell cycle control protein	BrainSpLMD|9184;Eurexp|euxassay_004484|hindbrain, lateral wall, mantle layer, saccule, utricle	OMIM|603719;HPO|9184|Abnormality of vision, Ascites, Cataract, Corneal opacity, Dandy-Walker malformation, Epicanthus, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Polyhydramnios, Short stature, Triangular face
MGE-IPC1	G2E3	1.816244195	0	Enzyme: Ligase	BrainSpLMD|55632	OMIM|611299
MGE-IPC1	GAS2L3	1.80712755	0	Cytoskeletal protein	BrainSpLMD|283431	OMIM|617224
MGE-IPC1	UBE2T	1.794950184	0	Ubiquitin proteasome system protein	BrainSpLMD|29089;Eurexp|euxassay_004872|olfactory, respiratory, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|610538;HPO|29089|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bone marrow hypocellularity, Duplication of thumb phalanx, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pancytopenia, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Thrombocytopenia
MGE-IPC1	HMGN2	1.766280054	0	Transcription regulatory protein	BrainSpLMD|3151;Eurexp|euxassay_007442|embryo;BrainSpMouseDev|15106	OMIM|163910
MGE-IPC1	HMGN2P5	1.752535648	0			
MGE-IPC1	SMC2	1.747987349	0	Unclassified	BrainSpLMD|10592;Eurexp|euxassay_011062|cortex, dorsal grey horn, incisor, lobe, lung, marginal layer, molar, orbito-sphenoid, submandibular gland primordium, thymus primordium, turbinate bones, ventral grey horn, ventricular layer, vibrissa	OMIM|605576
MGE-IPC1	KIF4B	1.70212034	0	Motor protein		OMIM|609184
MGE-IPC1	WEE1	1.683835147	0	Dual specificity kinase	BrainSpLMD|7465;Eurexp|euxassay_016462|hindgut, lung, midgut, stomach, submandibular gland primordium, ventricular layer	OMIM|193525
MGE-IPC1	APOLD1	1.655529005	0	Unclassified	BrainSpLMD|81575;Eurexp|euxassay_014175|ventricle	OMIM|612456
MGE-IPC1	HMGB3	1.614810294	0	DNA binding protein	BrainSpLMD|3149;BrainSpMouseDev|15129	OMIM|300193;HPO|3149|Abnormality of the pinna, Anteverted ears, Coloboma, Esotropia, Global developmental delay, Intellectual disability, Microcephaly, Microcornea, Microphthalmia, Pendular nystagmus, Ptosis, Short stature, X-linked inheritance
MGE-IPC1	HMGN2P3	1.553646111	0			
MGE-IPC1	TMPO	1.507559305	0	Peptide hormone	BrainSpLMD|7112	OMIM|188380;HPO|7112|Autosomal dominant inheritance, Dilated cardiomyopathy, Reduced systolic function
MGE-IPC1	CDC20P1	1.50509229	0			
MGE-IPC1	LBR	1.431924762	0	Integral membrane protein	BrainSpLMD|3930	OMIM|600024;HPO|3930|11 pairs of ribs, Abnormal foot bone ossification, Abnormal joint morphology, Abnormal lung lobation, Abnormal ossification involving the femoral head and neck, Abnormal pelvis bone ossification, Abnormal vertebral ossification, Abnormality of cholesterol metabolism, Abnormality of chromosome segregation, Abnormality of leukocytes, Abnormality of the calcaneus, Abnormality of the gastric mucosa, Abnormality of the scapula, Abnormality of the vertebral spinous processes, Absent or minimally ossified vertebral bodies, Absent toenail, Anterior rib punctate calcifications, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Barrel-shaped chest, Biliary cirrhosis, Bone marrow hypocellularity, Bowing of the long bones, Brachydactyly, Broad palm, Calcinosis, Calcinosis cutis, Calvarial skull defect, Cardiomegaly, Cystic hygroma, Decreased skull ossification, Depressed nasal bridge, Diaphyseal thickening, Disproportionate short-limb short stature, Dysphagia, Elevated alkaline phosphatase, Elevated hepatic transaminases, Epiphyseal stippling, Extramedullary hematopoiesis, Fatigue, Fever, Flared metaphysis, Gastroesophageal reflux, Gastrointestinal hemorrhage, Global developmental delay, Hepatic calcification, Hepatomegaly, Hepatosplenomegaly, High forehead, Horizontal sacrum, Hyperbilirubinemia, Hypertelorism, Hypoplasia of the maxilla, Hypoplastic fingernail, Hypoplastic vertebral bodies, Hyposegmentation of neutrophil nuclei, Intestinal malrotation, Irregular hyperpigmentation, Jaundice, Keratoconjunctivitis sicca, Laryngeal calcification, Lethal skeletal dysplasia, Lip telangiectasia, Long clavicles, Low-set ears, Lymphedema, Macrocephaly, Malar flattening, Mesomelia, Metaphyseal cupping, Micrognathia, Micromelia, Midface retrusion, Misalignment of teeth, Mucosal telangiectasiae, Multiple prenatal fractures, Myalgia, Narrow chest, Neonatal death, Nonimmune hydrops fetalis, Omphalocele, Palmar telangiectasia, Pancreatic islet-cell hyperplasia, Patchy variation in bone mineral density, Platyspondyly, Pleural effusion, Polydactyly, Polyhydramnios, Postaxial foot polydactyly, Postaxial hand polydactyly, Preeclampsia, Prominent forehead, Pruritus, Pulmonary hypoplasia, Punctate vertebral calcifications, Raynaud phenomenon, Rhizomelia, Sandal gap, Sclerodactyly, Scleroderma, Sclerosis of skull base, Severe hydrops fetalis, Severe short-limb dwarfism, Short diaphyses, Short phalanx of finger, Short ribs, Skin rash, Skin ulcer, Splenomegaly, Steatorrhea, Sternal punctate calcifications, Stillbirth, Supernumerary vertebral ossification centers, Telangiectasia of the skin, Tracheal calcification, Ulnar deviation of the hand, Xerostomia
MGE-IPC1	LSM5	1.387770603	0	RNA binding protein	BrainSpLMD|23658;Eurexp|euxassay_001693|cortex, oesophagus, thymus primordium, ventricular layer	OMIM|607285
MGE-IPC1	H2AFZ	1.319296905	0	DNA binding protein	BrainSpLMD|3015	OMIM|142763
MGE-IPC1	SKA2	1.312367555	0	Unclassified	BrainSpLMD|348235;Eurexp|euxassay_007512|left lung, metanephros, olfactory, retina, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|616674
MGE-IPC1	HMGB1P5	1.116673105	0			
MGE-IPC1	HMGB1	1.067553771	0	DNA binding protein	BrainSpMouseDev|15064	OMIM|163905
MGE-IPC1	HMGN2P41	0.8819372	0			
MGE-IPC1	PTTG3P	0.613638444	0		BrainSpLMD|26255	
MGE-IPC1	MIR6080	0.430107538	0			
MGE-IPC1	CKAP5	1.470499296	1.11E-16	Cytoskeletal associated protein	BrainSpLMD|9793;Eurexp|euxassay_011048|cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, molar, olfactory, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|611142
MGE-IPC1	CALM2	0.978208282	1.11E-16	Calcium binding protein	BrainSpLMD|805	OMIM|114182;HPO|805|Autosomal dominant inheritance, Prolonged QT interval, Ventricular tachycardia, Vertigo
MGE-IPC1	RP11.673C5.1	0.930809875	1.11E-16			
MGE-IPC1	H2AFV	1.174955037	1.89E-15	DNA binding protein	BrainSpLMD|94239;Eurexp|euxassay_010704|metanephros, ventricular layer	
MGE-IPC1	CENPC	1.297407956	2.44E-15	DNA binding protein	BrainSpLMD|1060	OMIM|117141
MGE-IPC1	H2AFX	1.931264834	4.00E-15	DNA binding protein	BrainSpLMD|3014;Eurexp|euxassay_002718|ventricular layer	OMIM|601772
MGE-IPC1	NUCKS1	1.237363849	4.33E-15	DNA binding protein	BrainSpLMD|64710	OMIM|611912
MGE-IPC1	HMMR	2.888740044	4.44E-15	Cell surface receptor	BrainSpLMD|3161	OMIM|600936
MGE-IPC1	DDX39A	1.4984461	4.55E-15	RNA helicase	BrainSpLMD|10212	
MGE-IPC1	STX8P1	3.249247201	5.77E-15			
MGE-IPC1	LDHA	1.413332732	6.22E-15	Enzyme: Dehydrogenase	BrainSpLMD|3939	OMIM|150000;HPO|3939|Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise intolerance, Increased serum lactate, Increased serum pyruvate, Juvenile onset, Muscle cramps, Muscle stiffness, Myalgia, Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Rigidity
MGE-IPC1	CNTRL	1.531965643	7.11E-15	Unclassified	BrainSpLMD|11064;Eurexp|euxassay_016548|ventricular layer;BrainSpMouseDev|26666	OMIM|605496;COSMIC||MPN, NHL
MGE-IPC1	HDGF	1.443427925	9.44E-15	Growth factor	BrainSpLMD|3068;Eurexp|euxassay_002405|epithelium, incisor, lobe, molar, naris, olfactory, oral epithelium, orbito-sphenoid, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|600339
MGE-IPC1	NUDCD2	1.372409367	9.44E-15	Unclassified	BrainSpLMD|134492;Eurexp|euxassay_006946|embryo	
MGE-IPC1	RP11.192N10.2	0.455354187	1.18E-14			
MGE-IPC1	CENPN	2.269462523	1.69E-14	Unclassified	BrainSpLMD|55839	OMIM|611509
MGE-IPC1	RP11.95I19.3	0.880787285	2.09E-14			
MGE-IPC1	HMGB1P1	1.036604202	5.38E-14	Transcription regulatory protein		
MGE-IPC1	INCENP	1.866501225	6.48E-14	Cell cycle control protein	BrainSpLMD|3619;Eurexp|euxassay_004695|ventricular layer	OMIM|604411
MGE-IPC1	RP11.168J18.6	1.343036106	9.57E-14			
MGE-IPC1	SPDL1	1.493280766	1.26E-13	Unclassified	BrainSpLMD|54908;Eurexp|euxassay_003300|axial muscle, glomeruli, incisor, left, mantle layer, marginal layer, molar, pancreas, right, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|616401
MGE-IPC1	DCXR	2.479625428	1.37E-13	Enzyme: Oxidoreductase	BrainSpLMD|51181	OMIM|608347
MGE-IPC1	HNRNPA1	0.649640386	1.78E-13	RNA binding protein	BrainSpLMD|3178	OMIM|164017;HPO|3178|Abnormality of the abdominal musculature, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dyspnea, Elevated alkaline phosphatase, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Limb-girdle muscular dystrophy, Mildly elevated creatine phosphokinase, Muscle cramps, Muscle fiber inclusion bodies, Muscular dystrophy, Myopathy, Neurodegeneration, Pain, Paralysis, Proximal muscle weakness, Respiratory failure, Rimmed vacuoles, Skeletal muscle atrophy, Spasticity, Xerostomia
MGE-IPC1	HMGB1P10	1.023435281	1.87E-13			
MGE-IPC1	MZT1	2.367927744	2.57E-13	Unclassified		OMIM|613448
MGE-IPC1	ESPL1	1.888266756	2.65E-13	Cysteine protease	BrainSpLMD|9700	OMIM|604143
MGE-IPC1	CLIC1	1.421008978	3.81E-13	Intracellular ligand gated channel	BrainSpLMD|1192	OMIM|602872
MGE-IPC1	CCDC18	2.118660214	3.84E-13	T cell antigen receptor	BrainSpLMD|343099	
MGE-IPC1	SKA3	1.636484398	4.43E-13	Unclassified	BrainSpLMD|221150;Eurexp|euxassay_011780|brain, choroid invagination, left lung, mantle layer, right lung, ventricle, vertebral axis muscle system	
MGE-IPC1	MARCKS	0.452304927	5.62E-13	Cytoskeletal protein	BrainSpLMD|4082	OMIM|177061
MGE-IPC1	RAN	1.16849276	5.81E-13	GTPase	BrainSpLMD|5901	OMIM|601179
MGE-IPC1	HP08942	2.366485122	6.69E-13			
MGE-IPC1	CENPU	1.419890236	6.99E-13	Unclassified	BrainSpLMD|79682	OMIM|611511
MGE-IPC1	EZH2	1.117275696	9.23E-13	Transcription regulatory protein	BrainSpLMD|2146	OMIM|601573;COSMIC||DLBCL;HPO|2146|Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Absent septum pellucidum, Accelerated skeletal maturation, Autosomal dominant inheritance, Behavioral abnormality, Broad foot, Broad forehead, Broad thumb, Calcaneovalgus deformity, Camptodactyly, Camptodactyly of finger, Clinodactyly, Coxa valga, Cryptorchidism, Cutis laxa, Deep philtrum, Deep-set nails, Delayed speech and language development, Depressed nasal bridge, Diastasis recti, Dilation of lateral ventricles, Dimple chin, Downslanted palpebral fissures, Dysarthria, Dysharmonic bone age, Epicanthus, Feeding difficulties in infancy, Fine hair, Flared femoral metaphysis, Flared humeral metaphysis, Generalized hypotonia, Global developmental delay, Hoarse voice, Hydrocele testis, Hypertelorism, Hypertonia, Hypoplastic iliac wing, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Inverted nipples, Joint contracture of the hand, Joint stiffness, Kyphosis, Large hands, Limited elbow extension, Limited knee extension, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Mandibular prognathia, Metatarsus adductus, Micrognathia, Overlapping toe, Pes cavus, Prominent fingertip pads, Radial deviation of finger, Redundant skin, Retrognathia, Round face, Scoliosis, Seizures, Short fourth metatarsal, Short ribs, Slurred speech, Sparse hair, Spasticity, Strabismus, Talipes equinovarus, Tall stature, Thin nail, Umbilical hernia
MGE-IPC1	SETD8	1.456507365	9.73E-13			
MGE-IPC1	CDK6	1.803402558	1.31E-12	Cell cycle control protein	BrainSpLMD|1021	OMIM|603368;COSMIC||ALL;HPO|1021|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Cortical gyral simplification, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-IPC1	DTYMK	1.280968489	1.32E-12	Enzyme: Phosphotransferase	Eurexp|euxassay_003137|chondrocranium, incisor, molar, pancreas, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|188345
MGE-IPC1	RAB13	1.282177162	1.72E-12	GTPase	Eurexp|euxassay_003494|meninges, metencephalon, olfactory lobe	OMIM|602672
MGE-IPC1	DCAF7	1.263300826	2.03E-12	Unclassified	BrainSpLMD|10238;BrainSpMouseDev|47674	OMIM|605973
MGE-IPC1	IFT122	2.434588014	2.04E-12	Unclassified	BrainSpLMD|55764;Eurexp|euxassay_011142|choroid plexus, dorsal root ganglion, metanephros, olfactory, pituitary, testis	OMIM|606045;HPO|55764|Abnormal diaphysis morphology, Abnormal toenail morphology, Abnormality of the abdominal wall, Abnormality of the fingernails, Abnormality of the metaphysis, Anodontia, Anteverted nares, Autosomal recessive inheritance, Bicuspid aortic valve, Brachydactyly, Broad distal phalanges of all fingers, Broad toe, Chronic kidney disease, Clinodactyly, Craniosynostosis, Dolichocephaly, Ectodermal dysplasia, Epicanthus, Everted lower lip vermilion, Fibular hypoplasia, Fine hair, Finger syndactyly, Flattened epiphysis, Frontal bossing, Full cheeks, Hepatic cysts, Hepatic failure, Hepatic fibrosis, Hepatomegaly, High, narrow palate, Hypocalcemia, Hypodontia, Hypoplasia of dental enamel, Hypotelorism, Joint hyperflexibility, Joint laxity, Malformation of the hepatic ductal plate, Microdontia, Myopia, Narrow chest, Nystagmus, Osteoporosis, Pectus excavatum, Prominent occiput, Protuberant abdomen, Radial deviation of finger, Renal magnesium wasting, Retinal dystrophy, Rhizomelia, Sagittal craniosynostosis, Scaphocephaly, Short distal phalanx of finger, Short humerus, Short nail, Short ribs, Short toe, Single transverse palmar crease, Slow-growing hair, Sparse hair, Telecanthus, Thin nail, Tubulointerstitial nephritis, Wide nasal bridge, Widely spaced teeth
MGE-IPC1	RHEB	1.424852625	2.05E-12	GTPase	BrainSpLMD|6009;Eurexp|euxassay_000326|basioccipital bone, basisphenoid bone, dorsal root ganglion, midbrain, nucleus pulposus, olfactory lobe, otic capsule, ventricular layer;BrainSpMouseDev|19507	OMIM|601293
MGE-IPC1	CENPW	1.584972704	2.10E-12	Unclassified	Eurexp|euxassay_006383|roof plate, telencephalic part of interventricular foramen, thalamus	OMIM|611264
MGE-IPC1	HYLS1	2.404656664	2.40E-12	Unclassified	BrainSpLMD|219844	OMIM|610693;HPO|219844|Abnormal cortical gyration, Abnormality of cardiovascular system morphology, Abnormality of the sense of smell, Abnormality of the vagina, Absent septum pellucidum, Accessory spleen, Adrenal gland dysgenesis, Agenesis of corpus callosum, Agenesis of the diaphragm, Apnea, Arrhinencephaly, Ataxia, Autosomal recessive inheritance, Bifid nose, Bifid uvula, Biparietal narrowing, Broad neck, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Deeply set eye, Episodic tachypnea, Feeding difficulties in infancy, Gait disturbance, Gingival cleft, Global developmental delay, Heterotopia, Hydrocephalus, Intellectual disability, Intrauterine growth retardation, Laryngomalacia, Long face, Low-set, posteriorly rotated ears, Median cleft lip, Micrognathia, Muscular hypotonia, Nystagmus, Oculomotor apraxia, Omphalocele, Polyhydramnios, Postaxial hand polydactyly, Preaxial hand polydactyly, Premature birth, Proximal tibial hypoplasia, Retrognathia, Submucous cleft hard palate, Tracheal atresia, Unilateral cleft lip, Ventricular septal defect
MGE-IPC1	HNRNPA2B1	0.876608531	3.03E-12	Ribonucleoprotein;RNA binding protein	BrainSpLMD|3181	OMIM|600124;COSMIC||prostate;HPO|3181|Abnormality of the skeletal system, Behavioral abnormality, Centrally nucleated skeletal muscle fibers, Elevated serum creatine phosphokinase, Frontotemporal dementia, Muscle fiber atrophy, Muscular dystrophy, Myopathy, Myositis, Skeletal muscle atrophy
MGE-IPC1	PLK4	1.831673968	5.80E-12	Serine/threonine kinase	BrainSpLMD|10733;Eurexp|euxassay_003979|Meckel's cartilage, clavicle, cranium, rib, turbinate	OMIM|605031;HPO|10733|Abnormality of dental enamel, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the eyelashes, Absent earlobe, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Autosomal recessive inheritance, Biparietal narrowing, Cachexia, Cataract, Cerebellar atrophy, Cerebral atrophy, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital onset, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Hip dysplasia, Hypertonia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Mild global developmental delay, Narrow face, Nystagmus, Optic atrophy, Pointed chin, Prematurely aged appearance, Protruding ear, Reduced number of teeth, Sandal gap, Scoliosis, Seizures, Short stature, Sloping forehead, Sparse scalp hair, Strabismus, Visual impairment, Wide nasal bridge
MGE-IPC1	DIAPH3	1.78826828	6.57E-12	Unclassified	BrainSpLMD|81624;Eurexp|euxassay_012699|incisor, molar, pituitary, submandibular gland primordium, ventricular layer, vibrissa	SFARI||Autism, 5 - Hypothesized but untested;OMIM|614567;HPO|81624|Abnormal auditory evoked potentials, Abnormal speech discrimination, Absence of acoustic reflex, Autosomal dominant inheritance, Sensorineural hearing impairment
MGE-IPC1	BORA	2.841309319	7.13E-12	Unclassified	BrainSpLMD|79866;Eurexp|euxassay_012253|cortex, incisor, orbito-sphenoid, submandibular gland primordium, temporal bone, thymus primordium, ventricular layer, vibrissa	OMIM|610510
MGE-IPC1	STK17B	1.786348615	7.34E-12	Serine/threonine kinase	BrainSpLMD|9262	OMIM|604727
MGE-IPC1	MIR16.2	1.224857067	8.61E-12			
MGE-IPC1	FAM122B	2.34751381	8.89E-12	Unclassified	BrainSpLMD|159090;Eurexp|euxassay_002251|axial skeleton, cranium, mesenchyme, pectoral girdle and thoracic body wall, trachea	
MGE-IPC1	HSP90B1	1.022527643	1.18E-11	Heat shock protein	BrainSpLMD|7184;Eurexp|euxassay_000099|body-wall mesenchyme, dermis, epidermis, nucleus pulposus	OMIM|191175
MGE-IPC1	TTF2	1.828657905	1.64E-11	Transcription regulatory protein	BrainSpLMD|8458;Eurexp|euxassay_012438|ventricular layer;BrainSpMouseDev|49885	OMIM|604718
MGE-IPC1	FOXN4	2.160197335	1.72E-11	Transcription factor	BrainSpLMD|121643;Eurexp|euxassay_019663|neural retina, ventricular layer;BrainSpMouseDev|78123	OMIM|609429
MGE-IPC1	CENPL	2.224924219	2.01E-11	Unclassified	BrainSpLMD|91687	OMIM|611503
MGE-IPC1	RPS6	0.275262959	2.13E-11	Ribosomal subunit	BrainSpLMD|6194	OMIM|180460
MGE-IPC1	CHEK2	2.253535541	2.50E-11	Serine/threonine kinase	BrainSpLMD|11200;Eurexp|euxassay_012795|liver, ventricular layer	OMIM|604373;COSMIC||breast;HPO|11200|Abnormal lactate dehydrogenase activity, Abnormality of metabolism/homeostasis, Abnormality of the fallopian tube, Abnormality of the femoral metaphysis, Abnormality of the tibial metaphysis, Autosomal dominant inheritance, Breast carcinoma, Elevated alkaline phosphatase, Glioma, Joint swelling, Lymphoma, Meningioma, Neoplasm of the adrenal cortex, Neoplasm of the colon, Neoplasm of the nervous system, Neoplasm of the pancreas, Neoplasm of the skin, Osteolysis, Osteosarcoma, Ovarian neoplasm, Pain, Primary peritoneal carcinoma, Progressive encephalopathy, Retinoblastoma, Sarcoma, Stomach cancer
MGE-IPC1	EMC9	2.048886985	2.66E-11	Unclassified	BrainSpLMD|51016	
MGE-IPC1	MED7	1.004702541	2.80E-11	Transcription factor	BrainSpLMD|9443	OMIM|605045
MGE-IPC1	PHF19	1.94555629	3.00E-11	Transcription regulatory protein	BrainSpLMD|26147;Eurexp|euxassay_004365|cortex, ventricular layer;BrainSpMouseDev|49857	OMIM|609740
MGE-IPC1	MYH11	1.775246506	3.70E-11	Structural protein	BrainSpLMD|4629	OMIM|160745;COSMIC||AML;HPO|4629|Abdominal distention, Abnormal iris pigmentation, Abnormality of the iris, Aortic regurgitation, Ascending aortic dissection, Autosomal dominant inheritance, Bicuspid aortic valve, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis, Cystic medial necrosis of the aorta, Descending aortic dissection, Dilatation of ascending aorta, Dilatation of the descending aortic, Dissecting aortic dilatation, Exertional dyspnea, Hydroureter, Hypertension, Hypoperistalsis, Intestinal malrotation, Left ventricular failure, Megacystis, Microcolon, Multicystic kidney dysplasia, Nausea and vomiting, Paroxysmal dyspnea, Patent ductus arteriosus, Polyhydramnios
MGE-IPC1	ILF2	1.02515693	3.80E-11	Transcription factor	BrainSpLMD|3608;Eurexp|euxassay_003141|cervical, cervico-thoracic, chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, submandibular gland primordium, thoracic, trigeminal V, vestibulocochlear VIII, vibrissa	SFARI||Autism, 2 - Strong candidate;OMIM|603181
MGE-IPC1	FANCD2	0.978442819	4.49E-11	Cell cycle control protein	BrainSpLMD|2177	OMIM|613984;COSMIC||AML, leukaemia;HPO|2177|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of skin pigmentation, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anemia, Anemic pallor, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bruising susceptibility, Cafe-au-lait spot, Chromosomal breakage induced by crosslinking agents, Complete duplication of thumb phalanx, Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Duplicated collecting system, Ectopic kidney, Esophageal atresia, Global developmental delay, Hearing impairment, Horseshoe kidney, Hypergonadotropic hypogonadism, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukemia, Leukopenia, Microcephaly, Microphthalmia, Neutropenia, Pancytopenia, Prolonged G2 phase of cell cycle, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Reticulocytopenia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Small for gestational age, Strabismus, Thrombocytopenia, Tracheoesophageal fistula
MGE-IPC1	BRD8	0.997330998	5.06E-11	Transcription regulatory protein	BrainSpLMD|10902;Eurexp|euxassay_019636|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	OMIM|602848
MGE-IPC1	TUBB	0.46397188	5.06E-11	Cytoskeletal protein	BrainSpLMD|203068	OMIM|191130;HPO|203068|Abnormality of cardiovascular system morphology, Abnormality of the skin, Ataxia, Autosomal dominant inheritance, Blepharophimosis, Brachycephaly, Cerebellar hypoplasia, Cleft palate, Congenital onset, Delayed speech and language development, Edema, Epicanthus, Flat face, Global developmental delay, High palate, Hypertelorism, Hypoplasia of the brainstem, Hypoplastic nipples, Increased number of skin folds, Intellectual disability, Irregular hyperpigmentation, Localized neuroblastoma, Low-set ears, Microcephaly, Motor delay, Narrow mouth, Periorbital fullness, Posteriorly rotated ears, Short neck, Short palpebral fissure, Thickened skin, Wide intermamillary distance
MGE-IPC1	NKX2.1	0.572449012	5.61E-11			
MGE-IPC1	SPC24	1.275402525	5.87E-11	Cell cycle control protein	BrainSpLMD|147841;Eurexp|euxassay_006353|ventricular layer	OMIM|609394
MGE-IPC1	SKA1	2.343494237	7.53E-11	Unclassified	BrainSpLMD|220134	OMIM|616673
MGE-IPC1	B2M	0.77140961	9.84E-11	MHC complex protein	BrainSpLMD|567	OMIM|109700;COSMIC||DLBCL, melanoma, colorectal adenocarcinoma, Immunodeficiency 43;HPO|567|Autonomic bladder dysfunction, Autonomic dysregulation, Autosomal dominant inheritance, Autosomal recessive inheritance, Bowel incontinence, Bronchiectasis, Cholestasis, Chronic constipation, Chronic diarrhea, Edema, Gastrointestinal dysmotility, Gastrointestinal hemorrhage, Generalized amyloid deposition, Hematuria, Hepatomegaly, Hypertension, Hypoalbuminemia, Hypoplasia of the ulna, Hypoproteinemia, IgG deficiency, Intermittent diarrhea, Keratoconjunctivitis sicca, Malabsorption, Nephropathy, Nephrotic syndrome, Orthostatic hypotension due to autonomic dysfunction, Proteinuria, Radial bowing, Recurrent respiratory infections, Skin rash, Splenomegaly, Variable expressivity, Vertigo, Weight loss, Xerostomia
MGE-IPC1	HIST1H3B	1.214621809	1.27E-10	DNA binding protein	BrainSpLMD|8358	OMIM|602819;COSMIC||glioma
MGE-IPC1	ATP5B	0.882960966	1.34E-10			
MGE-IPC1	PNRC2	1.114203768	1.36E-10	Ligand	Eurexp|euxassay_002876|thymus primordium, ventricular layer	OMIM|611882
MGE-IPC1	SEPHS1	0.53397916	1.90E-10	Enzyme: Synthase	BrainSpLMD|22929	OMIM|600902
MGE-IPC1	ZEB1	1.138229447	1.92E-10	Transcription factor	BrainSpLMD|6935;Eurexp|euxassay_015398|central nervous system, meninges, vertebral axis muscle system;BrainSpMouseDev|21178	OMIM|189909;COSMIC||CCRCC, melanoma;HPO|6935|Autosomal dominant inheritance, Corneal dystrophy, Corneal guttata
MGE-IPC1	CCT5	1.077605207	2.30E-10	Chaperone	BrainSpLMD|22948	OMIM|610150;HPO|22948|Abnormality of the foot, Acral ulceration and osteomyelitis leading to autoamputation of digits, Atrophy of the spinal cord, Autosomal recessive inheritance, Babinski sign, Clonus, Decreased circulating low-density lipoprotein levels, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment, Distal sensory loss of all modalities, Hypocholesterolemia, Infantile onset, Juvenile onset, Peripheral axonal neuropathy, Spastic gait, Spastic paraplegia
MGE-IPC1	RANP1	0.643078569	2.48E-10			
MGE-IPC1	CEP55	2.649301475	2.73E-10	Unclassified	BrainSpLMD|55165	OMIM|610000;HPO|55165|2-3 toe syndactyly, Autosomal recessive inheritance, Hydranencephaly, Renal agenesis, Renal dysplasia, Renal hypoplasia
MGE-IPC1	CCDC150	1.791534943	3.09E-10	Cytoskeletal protein	BrainSpLMD|284992	
MGE-IPC1	PIM2	0.989920124	3.87E-10	Serine/threonine kinase	BrainSpLMD|11040	OMIM|300295
MGE-IPC1	LMNB2	1.026753234	4.13E-10	Structural protein	BrainSpLMD|84823	OMIM|150341;HPO|84823|Autoimmunity, Autosomal recessive inheritance, Decreased serum complement C3, Gait ataxia, Generalized amyotrophy, Global developmental delay, Hearing impairment, Intellectual disability, Lipoatrophy, Lymphocytosis, Microglossia, Myoclonus, Myopathy, Progeroid facial appearance, Progressive, Scoliosis, Seizures, Short thumb, Status epilepticus, Ventriculomegaly
MGE-IPC1	ARL6IP1P3	0.363531532	4.72E-10			
MGE-IPC1	C5orf34	2.908012261	5.01E-10	Unclassified	BrainSpLMD|375444	
MGE-IPC1	FIGN	0.857452324	5.05E-10	ATPase	BrainSpLMD|55137;Eurexp|euxassay_013646|dorsal grey horn, mantle layer, marginal layer, ventral grey horn	OMIM|605295
MGE-IPC1	HIST1H1B	1.299280124	5.76E-10	DNA binding protein	BrainSpLMD|3009;Eurexp|euxassay_012857|marginal layer, ventricular layer	OMIM|142711
MGE-IPC1	AK9	1.341417323	5.94E-10	Unclassified	BrainSpLMD|221264	OMIM|615358
MGE-IPC1	RNU6.957P	0.879881787	5.97E-10			
MGE-IPC1	CCDC34	1.637869486	6.24E-10	Unclassified	BrainSpLMD|91057	OMIM|612324
MGE-IPC1	RANGAP1	1.60444598	6.32E-10	GTPase activating protein	BrainSpLMD|5905;Eurexp|euxassay_018242|brain	OMIM|602362
MGE-IPC1	TAF8	1.776345941	7.36E-10	Transcription factor	BrainSpLMD|129685	OMIM|609514
MGE-IPC1	SHFM1	0.693978962	8.49E-10			
MGE-IPC1	TNFAIP8L1	1.681978405	8.92E-10	Unclassified	BrainSpLMD|126282	OMIM|615869
MGE-IPC1	DCP2	1.199308424	9.77E-10	RNA binding protein	BrainSpLMD|167227	OMIM|609844
MGE-IPC1	CEP152	1.985895749	1.16E-09	Unclassified	Eurexp|euxassay_011313|axial skeleton, basioccipital bone, choroid invagination, choroid plexus, epithelium, femur, humerus, inner ear, olfactory, pelvic girdle, pituitary, roof plate, scapula, vomeronasal organ	OMIM|613529;HPO|22995|Abnormal cortical bone morphology, Abnormal cortical gyration, Abnormality of dental enamel, Absent earlobe, Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Bimanual synkinesia, Cachexia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Heterotopia, High palate, Hip dysplasia, Hyperreflexia, Hypodontia, Hypoplasia of the frontal lobes, Impulsivity, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint hyperflexibility, Large beaked nose, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Oligodontia, Pachygyria, Prematurely aged appearance, Prominent nasal bridge, Reduced number of teeth, Retrognathia, Sandal gap, Short stature, Sloping forehead, Sparse scalp hair, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-IPC1	SOX2.OT	0.613827002	1.17E-09			
MGE-IPC1	SCLT1	0.875648482	1.24E-09	Adapter molecule	BrainSpLMD|132320	OMIM|611399
MGE-IPC1	MZT2B	0.816566594	1.25E-09	Unclassified	BrainSpLMD|80097	OMIM|613450
MGE-IPC1	ADD3	1.173290333	1.31E-09	Cytoskeletal associated protein	BrainSpLMD|120;Eurexp|euxassay_002919|chondrocranium, epithelium, glandular mucous membrane, lumen, mantle layer, pancreas, ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|601568;HPO|120|Abnormal pyramidal signs, Autosomal recessive inheritance, Cognitive impairment, Dysphagia, Exotropia, Global developmental delay, Infantile onset, Microcephaly, Nystagmus, Poor speech, Spastic diplegia, Spastic tetraplegia, Supranuclear gaze palsy, Variable expressivity
MGE-IPC1	HIST1H3C	0.728035821	1.44E-09	DNA binding protein	BrainSpLMD|8352	OMIM|602812
MGE-IPC1	GNG5	1.25932176	1.45E-09	G protein	BrainSpLMD|2787;Eurexp|euxassay_007798|embryo	OMIM|600874
MGE-IPC1	SOX2	0.561649997	2.04E-09	Transcription factor	Eurexp|euxassay_019525|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lung, mantle layer, medulla, midgut, neural retina, oesophagus, olfactory, oral epithelium, pituitary, saccule, stomach, testis, trachea, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|20436	OMIM|184429;COSMIC||NSCLC, oesophageal squamous carcinoma, Microphthalmia and oesophageal atresia syndrome;HPO|6657|Agenesis of corpus callosum, Anophthalmia, Anterior pituitary hypoplasia, Autosomal dominant inheritance, Butterfly vertebrae, Cleft palate, Coloboma, Cryptorchidism, Esophageal atresia, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hemivertebrae, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypospadias, Hypothalamic hamartoma, Microcephaly, Micropenis, Microphthalmia, Missing ribs, Nystagmus, Optic nerve hypoplasia, Patent ductus arteriosus, Postnatal growth retardation, Rib fusion, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Short stature, Spastic diplegia, Spastic tetraplegia, Specific learning disability, Strabismus, Supernumerary ribs, Tracheoesophageal fistula, Ventricular septal defect, Vertebral fusion, Vertebral hypoplasia, Visual impairment, Visual loss
MGE-IPC1	HMGN2P4	0.456896634	2.15E-09			
MGE-IPC1	USP1	1.46609875	2.30E-09	Ubiquitin proteasome system protein	BrainSpLMD|7398	OMIM|603478
MGE-IPC1	MCAM	0.974661323	2.48E-09	Adhesion molecule	BrainSpLMD|4162	OMIM|155735
MGE-IPC1	CEP97	1.420370271	2.76E-09	Unclassified	BrainSpLMD|79598	OMIM|615864
MGE-IPC1	SALL1	1.369171602	2.90E-09	Transcription factor	BrainSpLMD|6299;Eurexp|euxassay_000198|basal columns, corpus striatum, epithelium, floor plate, floorplate, glomeruli, handplate, head mesenchyme, intermediate grey horn, isthmus, lateral wall, mantle layer, marginal layer, medulla oblongata, mesenchyme, olfactory, pars tuberalis, penis, skin, telencephalon, thyroid, ventral grey horn, ventricular layer;BrainSpMouseDev|37230	OMIM|602218;HPO|6299|2-3 toe syndactyly, 3-4 finger syndactyly, 3-4 toe syndactyly, Anal atresia, Anal stenosis, Anteriorly placed anus, Aplasia/Hypoplasia of the 3rd toe, Autosomal dominant inheritance, Bifid scrotum, Bifid uterus, Broad thumb, Chorioretinal coloboma, Clinodactyly of the 5th finger, Constipation, Cryptorchidism, Duodenal atresia, External ear malformation, Gastroesophageal reflux, Hearing impairment, Hypospadias, Hypothyroidism, Intellectual disability, Macrotia, Metatarsal synostosis, Microcephaly, Microtia, Overfolded helix, Overfolding of the superior helices, Partial duplication of thumb phalanx, Pes planus, Preauricular skin tag, Preaxial hand polydactyly, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Rectovaginal fistula, Renal insufficiency, Satyr ear, Short metatarsal, Stahl ear, Subcutaneous nodule, Tetralogy of Fallot, Toe clinodactyly, Triphalangeal thumb, Umbilical hernia, Urethral valve, Ventricular septal defect
MGE-IPC1	HNRNPUL1	0.760885054	3.07E-09	RNA binding protein	BrainSpLMD|11100	OMIM|605800
MGE-IPC1	ZMYM1	1.594813995	4.04E-09	Unclassified	BrainSpLMD|79830	
MGE-IPC1	TBL1XR1	0.588869014	4.99E-09	Transcription regulatory protein	BrainSpLMD|79718;Eurexp|euxassay_006481|thymus primordium	SFARI||Autism, 2 - Strong candidate;OMIM|608628;COSMIC||splenic marginal zone lymphoma, primary central nervous system lymphoma, colorectal carcinoma, gallbladder carcinoma;HPO|79718|Abnormal peripheral nervous system morphology, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Brachycephaly, Brachydactyly, Broad face, Broad foot, Broad hallux, Broad palm, Broad philtrum, Broad thumb, Cognitive impairment, Cone-shaped epiphyses of the phalanges of the hand, Decreased body weight, Deep palmar crease, Deep plantar creases, Deeply set eye, Delayed speech and language development, Dysarthria, Enuresis nocturna, Everted lower lip vermilion, Feeding difficulties in infancy, Full cheeks, Global developmental delay, High anterior hairline, High forehead, High palate, Hyperreflexia, Hypertelorism, Hypoplastic areola, Intellectual disability, Large fleshy ears, Long upper lip, Malar flattening, Microcephaly, Midface retrusion, Narrow face, Nasal speech, Pectus carinatum, Pectus excavatum, Pes planus, Phenotypic variability, Posteriorly rotated ears, Progressive spastic paraplegia, Scissor gait, Short finger, Short foot, Short metacarpal, Short metatarsal, Short neck, Short nose, Short palm, Short phalanx of finger, Short stature, Short toe, Smooth philtrum, Telecanthus, Unilateral narrow palpebral fissure, Wide intermamillary distance, Wide nose, Widely spaced teeth
MGE-IPC1	ZBTB20	0.786521862	5.21E-09	Transcription factor	BrainSpLMD|26137;BrainSpMouseDev|35770	SFARI||Autism, 3 - Suggestive evidence;OMIM|606025;HPO|26137|Abnormality of the palate, Absent axillary hair, Absent facial hair, Anemia, Anonychia, Autosomal dominant inheritance, Basilar impression, Bilateral cryptorchidism, Bone cyst, Brachycephaly, Broad forehead, Calcification of the auricular cartilage, Cataract, Conductive hearing impairment, Deeply set eye, Developmental regression, Distal amyotrophy, Downslanted palpebral fissures, Downturned corners of mouth, Gait disturbance, Generalized hypotonia, Generalized osteoporosis, Genu valgum, Gynecomastia, Hearing impairment, Hip contracture, Hydrocephalus, Hypogonadism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Increased size of the mandible, Intellectual disability, Irregular vertebral endplates, Knee flexion contracture, Kyphosis, Macrocephaly, Macrotia, Malar flattening, Metatarsus adductus, Midface retrusion, Myopathy, Narrow chest, Narrow iliac wings, Narrow mouth, Neurodegeneration, Osteolysis, Pectus excavatum, Pes cavus, Plagiocephaly, Posterior polar cataract, Posterior scalloping of vertebral bodies, Ptosis, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Sparse scalp hair, Sporadic, Superiorly displaced ears, Synophrys, Thick lower lip vermilion, Truncal obesity
MGE-IPC1	CNIH4	1.246903464	5.42E-09	Unclassified	BrainSpLMD|29097	OMIM|617483
MGE-IPC1	FAM72D	1.006986453	5.47E-09		BrainSpLMD|728833	OMIM|614712
MGE-IPC1	ADAMTS6	1.706928511	6.85E-09	Metallo protease	BrainSpLMD|11174	OMIM|605008
MGE-IPC1	RBMXP2	1.113349398	6.97E-09			
MGE-IPC1	CALM2P2	1.441203308	7.05E-09			
MGE-IPC1	H3F3A	0.348639986	7.94E-09	DNA binding protein		OMIM|601128;COSMIC||glioma
MGE-IPC1	DLEU2	0.888700675	7.96E-09	Unclassified	BrainSpLMD|8847	OMIM|605766
MGE-IPC1	PSMD10	0.695338261	8.74E-09	Regulatory/other subunit	BrainSpLMD|5716	SFARI||Autism, 5 - Hypothesized but untested;OMIM|300880
MGE-IPC1	IFIT1	2.054598175	9.23E-09	DNA binding protein;RNA binding protein	BrainSpLMD|3434	OMIM|147690
MGE-IPC1	CDKN2C	1.305192447	9.34E-09	Cell cycle control protein	BrainSpLMD|1031;Eurexp|euxassay_018845|ventricular layer	OMIM|603369;COSMIC||glioma, MM;HPO|1031|Adrenocortical adenoma, Angiofibromas, Diarrhea, Elevated circulating parathyroid hormone level, Episodic abdominal pain, Esophagitis, Fasting hyperinsulinemia, Growth hormone excess, Hypercalcemia, Hyperinsulinemic hypoglycemia, Hyperparathyroidism, Insulinoma, Parathyroid adenoma, Parathyroid hyperplasia, Peptic ulcer, Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary prolactin cell adenoma, Subcutaneous lipoma, Thyroid adenoma, Zollinger-Ellison syndrome
MGE-IPC1	RP11.620J15.3	1.036528031	1.09E-08			
MGE-IPC1	MYBL1	2.024167933	1.09E-08	Transcription regulatory protein	Eurexp|euxassay_019606|adrenal gland, neural retina, olfactory, testis, ventricular layer, vomeronasal organ;BrainSpMouseDev|17631	OMIM|159405
MGE-IPC1	RP11.798M19.3	1.776352764	1.19E-08			
MGE-IPC1	CEP112	1.918647791	1.22E-08	Unclassified	BrainSpLMD|201134	
MGE-IPC1	UBB	0.825986448	1.27E-08	Ubiquitin proteasome system protein	BrainSpLMD|7314	OMIM|191339;HPO|7314|Anterior open-bite malocclusion, Autosomal dominant inheritance, Cleft palate, Gingival overgrowth, Intellectual disability, profound, Micrognathia, Overbite, Seizures
MGE-IPC1	BCHE	1.470812015	1.33E-08	Enzyme: Esterase	BrainSpLMD|590;BrainSpMouseDev|11824	OMIM|177400
MGE-IPC1	GLCCI1	1.316431403	1.38E-08	Unclassified	BrainSpLMD|113263;Eurexp|euxassay_014439|axial skeleton, nasal septum, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|82074	OMIM|614283
MGE-IPC1	UBE2S	2.293243819	1.56E-08	Ubiquitin proteasome system protein		OMIM|610309
MGE-IPC1	LMO1	2.168080516	1.56E-08	Transcription factor	BrainSpLMD|4004;BrainSpMouseDev|73752	OMIM|186921;COSMIC||T-ALL, neuroblastoma, neuroblastoma;HPO|4004|Elevated urinary catecholamines, Neoplasm of the nervous system
MGE-IPC1	HP1BP3	1.150073981	1.59E-08	DNA binding protein	BrainSpLMD|50809	OMIM|616072
MGE-IPC1	RP11.714G18.1	1.741126708	1.60E-08			
MGE-IPC1	DARS2	1.357518637	1.74E-08	Unclassified	BrainSpLMD|55157	OMIM|610956;HPO|55157|Ataxia, Autosomal recessive inheritance, Babinski sign, Flexion contracture, Hyperreflexia, Hyporeflexia, Leukoencephalopathy, Motor delay, Muscle weakness, Nystagmus, Peripheral axonal neuropathy, Skeletal muscle atrophy, Slow progression, Spasticity, Tremor, Variable expressivity
MGE-IPC1	LINC00403	1.927191624	1.90E-08			
MGE-IPC1	MIR16.1	0.857967854	2.17E-08			
MGE-IPC1	CEP192	1.122676032	2.57E-08	Cytoskeletal protein	BrainSpLMD|55125	OMIM|616426
MGE-IPC1	DEK	0.64755311	2.67E-08	DNA binding protein	BrainSpLMD|7913	OMIM|125264;COSMIC||AML
MGE-IPC1	KIF5B	1.172028089	2.87E-08	Motor protein	BrainSpLMD|3799;Eurexp|euxassay_019750|olfactory	OMIM|602809;COSMIC||NSCLC, Spitzoid tumour
MGE-IPC1	RBMX	0.876007199	3.41E-08	RNA binding protein		OMIM|300199;HPO|27316|Blepharophimosis, Bulbous nose, Coarse facial features, Intellectual disability, moderate, Macroorchidism, Macrotia, Obesity, Periorbital fullness, Prominent supraorbital ridges, Specific learning disability, Thick lower lip vermilion, X-linked recessive inheritance
MGE-IPC1	RP11.603J24.7	0.431400552	3.49E-08			
MGE-IPC1	SHCBP1	1.624083112	3.52E-08	Unclassified	BrainSpLMD|79801;Eurexp|euxassay_006012|submandibular gland primordium, ventricular layer	OMIM|611027
MGE-IPC1	HMGN5	1.266593357	3.60E-08	Transcription regulatory protein	BrainSpLMD|79366;BrainSpMouseDev|30371	OMIM|300385
MGE-IPC1	MRPL51	0.995710889	3.75E-08	Ribosomal subunit	BrainSpLMD|51258	OMIM|611855
MGE-IPC1	CLGN	1.179165888	3.99E-08	Chaperone	BrainSpLMD|1047	OMIM|601858
MGE-IPC1	GEN1	1.587145605	4.43E-08	DNA binding protein	BrainSpLMD|348654	OMIM|612449
MGE-IPC1	MYEF2	0.769600394	4.67E-08	Transcription regulatory protein	BrainSpLMD|50804;Eurexp|euxassay_001436|liver, otic capsule, vertebral axis muscle system	
MGE-IPC1	HMGN3	0.651055476	5.47E-08	DNA binding protein	BrainSpLMD|9324;Eurexp|euxassay_010528|lens, olfactory;BrainSpMouseDev|60980	OMIM|604502
MGE-IPC1	TRIM69	1.478601291	5.68E-08	Cell cycle control protein	BrainSpLMD|140691	OMIM|616017
MGE-IPC1	LCORL	0.899204701	5.71E-08	Transcription factor	BrainSpLMD|254251	OMIM|611799
MGE-IPC1	FOPNL	1.618963623	6.39E-08	Cytoskeletal protein	BrainSpLMD|123811	OMIM|617149
MGE-IPC1	BARD1	1.133629342	6.80E-08	Transcription regulatory protein	BrainSpLMD|580	OMIM|601593;COSMIC||breast cancer, ovarian cancer, breast cancer, endometrioid cancer;HPO|580|Abnormality of the fallopian tube, Breast carcinoma, Ovarian neoplasm, Primary peritoneal carcinoma
MGE-IPC1	HNRNPA1P48	0.786749755	6.97E-08			
MGE-IPC1	MXD3	1.551483412	7.88E-08	Unclassified	BrainSpLMD|83463;Eurexp|euxassay_006300|choroid plexus, marginal layer, ventricular layer;BrainSpMouseDev|16891	OMIM|609450
MGE-IPC1	RPL3	0.345976651	8.97E-08	Ribosomal subunit		OMIM|604163
MGE-IPC1	C18orf54	0.778724165	1.06E-07	Unclassified		OMIM|613258
MGE-IPC1	METTL10	1.529212216	1.17E-07			
MGE-IPC1	DNA2	1.45387945	1.22E-07	DNA helicase		OMIM|601810;HPO|1763|Autosomal dominant inheritance, Autosomal recessive inheritance, Convex nasal ridge, Ectopic kidney, Elevated serum creatine phosphokinase, Exercise intolerance, Exertional dyspnea, Facial palsy, Gait disturbance, Generalized amyotrophy, Global developmental delay, Gowers sign, Intellectual disability, Kyphoscoliosis, Limb-girdle muscle weakness, Microcephaly, Micrognathia, Muscle cramps, Myalgia, Progressive external ophthalmoplegia, Ptosis, Short stature, Slender build, Slow progression, Spinal cord compression
MGE-IPC1	DYRK4	1.499618582	1.31E-07	Serine/threonine kinase	BrainSpLMD|8798	OMIM|609181
MGE-IPC1	RHNO1	1.121886061	1.34E-07	Unclassified	BrainSpLMD|83695;Eurexp|euxassay_001503|cortex, neural retina, ventricular layer	OMIM|614085
MGE-IPC1	MELK	1.464041549	1.36E-07	Serine/threonine kinase	BrainSpLMD|9833;Eurexp|euxassay_018584|4th ventricle, choroid plexus, clavicle, cortex, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, hindgut, incisor, left, loop, lumen, mandible, mantle layer, maxilla, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, pancreas, rectum, renal/urinary system, respiratory, right, stomach, submandibular gland primordium, testis, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|607025
MGE-IPC1	CEP85	1.364277246	1.39E-07	Unclassified	BrainSpLMD|64793	
MGE-IPC1	MDC1	0.594620367	1.39E-07	DNA repair protein	BrainSpLMD|9656;Eurexp|euxassay_014183|olfactory lobe, ventricular layer	OMIM|607593
MGE-IPC1	PSME2	1.70964094	1.43E-07	Ubiquitin proteasome system protein	BrainSpLMD|5721;Eurexp|euxassay_007332|thymus primordium	OMIM|602161
MGE-IPC1	CCNG1	0.936810494	1.49E-07	Cell cycle control protein	BrainSpLMD|900;Eurexp|euxassay_011875|trigeminal V;BrainSpMouseDev|12235	OMIM|601578
MGE-IPC1	TFDP2	0.914272449	1.80E-07	Transcription factor	BrainSpLMD|7029;Eurexp|euxassay_009223|liver, marginal layer, nasal capsule, neural retina, olfactory, ventricular layer;BrainSpMouseDev|84320	OMIM|602160
MGE-IPC1	HSD17B11	1.99634528	1.83E-07	Enzyme: Dehydrogenase	BrainSpLMD|51170;Eurexp|euxassay_012521|epithelium, olfactory	OMIM|612831
MGE-IPC1	PTMA	0.35782062	2.15E-07	Unclassified	BrainSpLMD|5757	OMIM|188390
MGE-IPC1	CEP135	1.235997226	2.21E-07	Unclassified	BrainSpLMD|9662	SFARI||Autism, 3 - Suggestive evidence;OMIM|611423;HPO|9662|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Congenital onset, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, severe, Microcephaly, Pachygyria, Retrognathia, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-IPC1	RCCD1	1.486103696	2.29E-07	Unclassified		
MGE-IPC1	TOX3	0.938916068	2.46E-07	Unclassified	Eurexp|euxassay_006138|cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, pancreas, paraxial mesenchyme, penis, retina, stomach, stroma, tongue, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|89252	OMIM|611416
MGE-IPC1	TUBA1C	1.078502995	2.99E-07	Cytoskeletal protein	BrainSpLMD|84790	
MGE-IPC1	PPP2R5C	1.046723833	3.08E-07	Enzyme regulator	BrainSpLMD|5527	OMIM|601645
MGE-IPC1	RPL23A	0.427981928	3.20E-07	RNA binding protein		OMIM|602326
MGE-IPC1	MTFR2	1.577677066	3.26E-07	Unclassified	BrainSpLMD|113115	
MGE-IPC1	UHRF1	0.792635891	3.52E-07	DNA binding protein	BrainSpLMD|29128	OMIM|607990
MGE-IPC1	DYNLL1	0.630300859	3.53E-07	Motor protein	BrainSpLMD|8655	OMIM|601562
MGE-IPC1	IFT74	0.972145772	3.72E-07	Unclassified	BrainSpLMD|80173;Eurexp|euxassay_011501|olfactory	OMIM|608040;HPO|80173|Autosomal recessive inheritance, Hypogonadism, Intellectual disability, Microcephaly, Obesity, Polydactyly, Rod-cone dystrophy
MGE-IPC1	CDC27	1.446326056	3.96E-07	Cell cycle control protein	BrainSpLMD|996	OMIM|116946
MGE-IPC1	SFRP2	1.255350176	4.02E-07	Secreted polypeptide	BrainSpLMD|6423;BrainSpMouseDev|20082	OMIM|604157
MGE-IPC1	KCTD9	1.511398513	4.34E-07	Ion channel	BrainSpLMD|54793;BrainSpMouseDev|69605	OMIM|617265
MGE-IPC1	LDHB	0.463654311	5.32E-07	Enzyme: Dehydrogenase	BrainSpLMD|3945	OMIM|150100
MGE-IPC1	C2orf69	1.055575516	5.51E-07	Unclassified	BrainSpLMD|205327;Eurexp|euxassay_007579|mandible, maxilla, orbito-sphenoid	
MGE-IPC1	PABPC1	0.885933852	5.69E-07	RNA binding protein	Eurexp|euxassay_005676|embryo	OMIM|604679;COSMIC||HNSCC, biliary tract carcinoma
MGE-IPC1	WHSC1	0.84413519	6.00E-07			
MGE-IPC1	LGALS1	1.23081922	6.18E-07	Ligand	BrainSpLMD|3956;Eurexp|euxassay_004032|cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, skeleton, tail, vertebral axis muscle system, visceral organ;BrainSpMouseDev|16623	OMIM|150570
MGE-IPC1	NUP37	1.492538738	6.33E-07	Transport/cargo protein	BrainSpLMD|79023;Eurexp|euxassay_006091|ventricular layer	OMIM|609264
MGE-IPC1	TMEM123	0.566566262	6.35E-07	Cell surface receptor	BrainSpLMD|114908	OMIM|606356
MGE-IPC1	CKB	1.008793762	7.21E-07	Enzyme: Phosphotransferase	BrainSpLMD|1152;Eurexp|euxassay_011493|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lung, mandible, mantle layer, maxilla, midgut, neural retina, oesophagus, olfactory, rectum, sternum, stomach, trigeminal V, ventral grey horn, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ, wall	OMIM|123280
MGE-IPC1	CALM3	0.942521474	7.49E-07	Calcium binding protein	BrainSpLMD|808	OMIM|114183;HPO|808|Ventricular tachycardia, Vertigo
MGE-IPC1	TJP1	0.808164144	7.59E-07	Cell junction protein	BrainSpLMD|7082;Eurexp|euxassay_018809|brain, dorsal root ganglion, facial VII, floor plate, floorplate, glossopharyngeal IX, left lung, meninges, metanephros, right lung, spinal cord, trigeminal V	OMIM|601009
MGE-IPC1	STK39	1.585556951	7.83E-07	Serine/threonine kinase	BrainSpLMD|27347	SFARI||Autism, 4 - Minimal evidence;OMIM|607648
MGE-IPC1	DLEU1	1.174172444	7.88E-07	Unclassified	BrainSpLMD|10301	OMIM|605765
MGE-IPC1	ZFP36L1	0.424765233	7.92E-07	Transcription factor	BrainSpLMD|677;Eurexp|euxassay_007310|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mantle layer, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|11978	OMIM|601064
MGE-IPC1	SIX3	1.51493207	8.65E-07	Transcription factor	BrainSpLMD|6496;Eurexp|euxassay_019625|corpus striatum, dorsal root ganglion, mantle layer, neural retina, olfactory, pituitary, trigeminal V, ventral grey horn, ventricular layer, vomeronasal organ;BrainSpMouseDev|20235	OMIM|603714;HPO|6496|Absent nasal septal cartilage, Adrenal hypoplasia, Agenesis of corpus callosum, Anterior pituitary agenesis, Aplasia of the nose, Autosomal dominant inheritance, Bifid uvula, Cerebellar hypoplasia, Constipation, Cyclopia, Diabetes insipidus, Generalized hypotonia, Global developmental delay, Heterogeneous, Holoprosencephaly, Hypotelorism, Incomplete penetrance, Intellectual disability, Malar flattening, Median cleft lip and palate, Microcephaly, Microphthalmia, Midface retrusion, Schizencephaly, Scoliosis, Seizures, Single median maxillary incisor, Sporadic, Submucous cleft hard palate, Variable expressivity
MGE-IPC1	CRNDE	1.238461359	8.83E-07			OMIM|615624
MGE-IPC1	RCC1	1.71704179	9.09E-07	Guanine nucleotide exchange factor	BrainSpLMD|1104;Eurexp|euxassay_000016|lateral wall, liver, lung, mandible, mantle layer, marginal layer, metanephros, palatal shelf, submandibular gland primordium, thymus primordium, trigeminal V, ventricular layer, vibrissa	OMIM|179710
MGE-IPC1	MORF4L2	0.555019791	1.08E-06	Transcription regulatory protein	BrainSpLMD|9643;Eurexp|euxassay_007035|embryo	OMIM|300409
MGE-IPC1	FAM111A	1.373564683	1.11E-06	Unclassified	BrainSpLMD|63901;Eurexp|euxassay_011616|lobe, mandible, maxilla, orbito-sphenoid, thymus primordium, thyroid, ventricular layer	OMIM|615292;HPO|63901|Abnormality of the medullary cavity of the long bones, Anemia, Aniridia, Ankyloglossia, Ascites, Autosomal dominant inheritance, Basal ganglia calcification, Brachydactyly, Congenital cataract, Delayed closure of the anterior fontanelle, Failure to thrive, Flared metaphysis, Global developmental delay, Hydrocephalus, Hypermetropia, Hypocalcemia, Hypoparathyroidism, Hypoplastic spleen, Increased bone mineral density, Macrocephaly, Micropenis, Microphthalmia, Papilledema, Prominent forehead, Retinal calcification, Seizures, Severe short stature, Short stature, Slender long bone, Small for gestational age, Thickened cortex of long bones, Transient hypophosphatemia
MGE-IPC1	HNRNPA1P10	0.640174749	1.13E-06			
MGE-IPC1	SLC4A8	0.953733927	1.16E-06	Membrane transport protein	BrainSpLMD|9498;Eurexp|euxassay_002110|adrenal gland, brain, calyces, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, pelvis, spinal cord, stroma, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|605024
MGE-IPC1	CSTF1	0.673650412	1.23E-06	RNA binding protein	BrainSpLMD|1477	OMIM|600369
MGE-IPC1	BTG3	0.965443859	1.27E-06	Cell cycle control protein	BrainSpLMD|10950	OMIM|605674
MGE-IPC1	LIN9	1.153312698	1.27E-06	Transcription regulatory protein	BrainSpLMD|286826;Eurexp|euxassay_006443|ventricular layer	OMIM|609375
MGE-IPC1	PSME1	0.854802921	1.31E-06	Ubiquitin proteasome system protein	BrainSpLMD|5720	OMIM|600654
MGE-IPC1	KMT2A	0.81332788	1.35E-06	Transcription factor	BrainSpLMD|4297	SFARI||Autism, 1 - High confidence;OMIM|159555;COSMIC||AML, ALL;HPO|4297|Abnormally low-pitched voice, Aggressive behavior, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Blepharophimosis, Brachycephaly, Broad-based gait, Clinodactyly of the 5th finger, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Downslanted palpebral fissures, Downturned corners of mouth, Elbow dislocation, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Flat face, Gastroesophageal reflux, Generalized hirsutism, Generalized hypotonia, High palate, Highly arched eyebrow, Hypertelorism, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phthisis bulbi, Premature birth, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short middle phalanx of finger, Short neck, Short nose, Short stature, Short toe, Sleep disturbance, Small hand, Strabismus, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Vesicoureteral reflux, Wide nose, Widely spaced teeth
MGE-IPC1	CDKN2D	1.895095951	1.49E-06	Cell cycle control protein	BrainSpLMD|1032;Eurexp|euxassay_006695|dorsal root ganglion, facial VII, glossopharyngeal IX, left, mantle layer, right, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|600927;HPO|1032|Abnormality of the hair, Abnormality of the lymphatic system, Dry skin, Freckling, Melanoma, Nevus
MGE-IPC1	PKP4	1.963120762	1.54E-06	Cell junction protein	BrainSpLMD|8502	OMIM|604276
MGE-IPC1	HSPA2	2.020281335	1.55E-06	Heat shock protein	BrainSpLMD|3306;Eurexp|euxassay_003311|basal plate, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, pancreas, submandibular gland primordium, testis, thoracic, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|140560
MGE-IPC1	MAT2B	1.237096787	1.61E-06	Enzyme: Adenosyltransferase	BrainSpLMD|27430;Eurexp|euxassay_000623|olfactory	OMIM|605527
MGE-IPC1	MPHOSPH9	1.212126985	1.65E-06	Cell cycle control protein	BrainSpLMD|10198	OMIM|605501
MGE-IPC1	JADE1	0.918514306	1.66E-06	Unclassified	BrainSpLMD|79960	OMIM|610514
MGE-IPC1	AC240274.1	1.156463915	1.69E-06			
MGE-IPC1	NUP35	0.863022496	1.70E-06	Transport/cargo protein	BrainSpLMD|129401	OMIM|608140
MGE-IPC1	TBC1D31	1.590038672	1.73E-06	Unclassified	BrainSpLMD|93594	SFARI||Autism, No category
MGE-IPC1	ANXA5	0.588206817	1.79E-06	Calcium binding protein	BrainSpLMD|308;Eurexp|euxassay_002158|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, meninges, renal/urinary system, reproductive system, respiratory system, tail	OMIM|131230
MGE-IPC1	SUGP2	0.630631776	2.01E-06	RNA binding protein	BrainSpLMD|10147;Eurexp|euxassay_009811|mandible, maxilla, orbito-sphenoid, rib	OMIM|607993
MGE-IPC1	DR1	1.368386051	2.19E-06	Transcription regulatory protein	BrainSpLMD|1810	OMIM|601482
MGE-IPC1	RPL7	0.295764076	2.27E-06	Ribosomal subunit		OMIM|604166
MGE-IPC1	HSPA5	0.767887366	2.30E-06	Chaperone	BrainSpLMD|3309	OMIM|138120
MGE-IPC1	RHEBP2	1.264127327	2.35E-06			
MGE-IPC1	FRMD4B	1.109650173	2.74E-06	Unclassified		OMIM|617467
MGE-IPC1	CBL	1.084466991	3.12E-06	Ubiquitin proteasome system protein	BrainSpLMD|867	OMIM|165360;COSMIC||AML, JMML, MDS;HPO|867|Aortic valve stenosis, Autosomal dominant inheritance, Bicuspid aortic valve, Cafe-au-lait spot, Cryptorchidism, Cubitus valgus, Deep philtrum, Delayed speech and language development, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Fine hair, Frontal bossing, Generalized hypotonia, Global developmental delay, Hypertelorism, Joint hypermobility, Joint laxity, Juvenile myelomonocytic leukemia, Long philtrum, Low-set ears, Macrotia, Mitral regurgitation, Pectus excavatum, Phenotypic variability, Posteriorly rotated ears, Ptosis, Short neck, Somatic mutation, Sparse hair, Thick vermilion border, Triangular face, Webbed neck, Wide intermamillary distance
MGE-IPC1	UCP2	1.723182617	3.23E-06	Transport/cargo protein	BrainSpLMD|7351;Eurexp|euxassay_010584|liver, olfactory, vibrissa, vomeronasal organ	OMIM|601693;HPO|7351|Abnormality of fatty-acid metabolism, Coma, Diarrhea, Hepatomegaly, Hyperhidrosis, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Neonatal hypoglycemia, Pallor, Pancreatic islet-cell hyperplasia, Progressive neurologic deterioration, Tachycardia, Vomiting
MGE-IPC1	COPZ1	1.470388854	3.30E-06	Transport/cargo protein	BrainSpLMD|22818	OMIM|615472
MGE-IPC1	CENPK	1.193207403	3.62E-06	Unclassified	BrainSpLMD|64105	OMIM|611502
MGE-IPC1	ESCO2	1.49127768	3.64E-06	Unclassified		OMIM|609353;HPO|157570|Abnormality of cardiovascular system morphology, Abnormality of the metacarpal bones, Absent earlobe, Absent radius, Accessory spleen, Ankle contracture, Aortic valve stenosis, Aplasia of the ulna, Aplasia/Hypoplasia of the thumb, Atrial septal defect, Autosomal recessive inheritance, Bicornuate uterus, Biliary tract abnormality, Blue sclerae, Bowing of the long bones, Brachycephaly, Brachydactyly, Cafe-au-lait spot, Cataract, Cleft eyelid, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Clitoral hypertrophy, Complete duplication of thumb phalanx, Cranial nerve paralysis, Craniosynostosis, Cryptorchidism, Cystic hygroma, Downslanted palpebral fissures, Elbow flexion contracture, Enlarged labia minora, External ear malformation, Fair hair, Frontal encephalocele, Global developmental delay, Hand oligodactyly, High palate, Hip contracture, Horseshoe kidney, Hydrocephalus, Hypertelorism, Hypoplasia of the radius, Hypospadias, Intellectual disability, Intrauterine growth retardation, Knee flexion contracture, Long penis, Low-set ears, Malar flattening, Mesomelic arm shortening, Microcephaly, Micrognathia, Microphthalmia, Midface capillary hemangioma, Narrow naris, Opacification of the corneal stroma, Patent ductus arteriosus, Phocomelia, Polycystic kidney dysplasia, Polyhydramnios, Posteriorly rotated ears, Postnatal growth retardation, Premature birth, Premature separation of centromeric heterochromatin, Proptosis, Proximal placement of thumb, Radial deviation of finger, Radioulnar synostosis, Seizures, Severe intrauterine growth retardation, Shallow orbits, Short neck, Short stature, Short thumb, Sparse hair, Syndactyly, Talipes equinovalgus, Tetraphocomelia, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide nasal bridge, Wormian bones, Wrist flexion contracture
MGE-IPC1	CDK5RAP2	1.004579238	3.78E-06	Cell cycle control protein	BrainSpLMD|55755	OMIM|608201;HPO|55755|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, moderate, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Small cerebral cortex, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-IPC1	VRK3	1.24017842	3.80E-06	Serine/threonine kinase	BrainSpLMD|51231	
MGE-IPC1	CEP57L1	1.324150918	3.96E-06	Unclassified	BrainSpLMD|285753	
MGE-IPC1	RAD51AP1	0.866964819	4.01E-06	DNA binding protein	BrainSpLMD|10635;Eurexp|euxassay_010685|ventricular layer	OMIM|603070
MGE-IPC1	ACTG1	0.28551141	4.04E-06	Structural protein	BrainSpLMD|71	OMIM|102560;HPO|71|Abnormality of the pinna, Aphasia, Autosomal dominant inheritance, Bilateral sensorineural hearing impairment, Cerebral cortical hemiatrophy, Coarse facial features, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Dysphasia, Echolalia, Epicanthus, Euryblepharon, Failure to thrive, Feeding difficulties, Full cheeks, Global developmental delay, Growth delay, Heterochromia iridis, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypertelorism, Intellectual disability, Iris coloboma, Joint stiffness, Large fontanelles, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Low posterior hairline, Macrogyria, Microcephaly, Micrognathia, Mutism, Osteochondrosis, Pachygyria, Pointed chin, Polymicrogyria, Progressive sensorineural hearing impairment, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Seizures, Short columella, Short neck, Skeletal dysplasia, Specific learning disability, Subcortical cerebral atrophy, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Trigonocephaly, Wide mouth, Wide nasal bridge, Wide nose, Young adult onset
MGE-IPC1	PIK3R3	1.071845058	4.69E-06	Adapter molecule	BrainSpLMD|8503	OMIM|606076
MGE-IPC1	ORC6	0.823717227	5.05E-06	DNA binding protein	BrainSpLMD|23594;Eurexp|euxassay_007673|cortex, incisor, left, mandible, molar, right, submandibular gland primordium, ventricular layer	OMIM|607213;HPO|23594|Abnormality of epiphysis morphology, Abnormality of the ribs, Absent sternal ossification, Anotia, Aplasia/Hypoplasia of the patella, Aplastic clavicles, Atresia of the external auditory canal, Autosomal recessive inheritance, Birth length less than 3rd percentile, Breast hypoplasia, Bronchomalacia, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Coxa vara, Craniosynostosis, Cryptorchidism, Delayed skeletal maturation, Downslanted palpebral fissures, Dyspnea, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Genu varum, High, narrow palate, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypospadias, Intrauterine growth retardation, Joint hyperflexibility, Laryngomalacia, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Micropenis, Microretrognathia, Microtia, Microtia, third degree, Narrow chest, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Prominent nasal bridge, Recurrent pneumonia, Respiratory distress, Respiratory failure, Retrognathia, Scrotal hypoplasia, Severe short stature, Short ribs, Short thorax, Slender long bone, Talipes equinovarus, Thick lower lip vermilion, Tracheomalacia, Triangular face
MGE-IPC1	NECAB1	0.826519467	5.15E-06	Calcium binding protein	BrainSpLMD|64168;Eurexp|euxassay_005971|embryo	
MGE-IPC1	SKIDA1	1.047029491	5.57E-06	Unclassified	BrainSpLMD|387640;Eurexp|euxassay_003843|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	
MGE-IPC1	MLLT10	1.280343639	5.75E-06	Transcription factor	BrainSpLMD|8028	OMIM|602409;COSMIC||AL
MGE-IPC1	SRSF10	0.477413155	6.20E-06	RNA binding protein	Eurexp|euxassay_000064|adenohypophysis, cardiac muscle, endocardial lining, limb, vertebral axis muscle system	OMIM|605221
MGE-IPC1	AGL	0.789166843	6.31E-06	Enzyme: Glucosidase	BrainSpLMD|178;Eurexp|euxassay_013482|dorsal root ganglion, facial VII, glossopharyngeal IX, skeletal muscle, trigeminal V, ventral grey horn, vertebral axis muscle system	OMIM|610860;HPO|178|Autosomal recessive inheritance, Broad nasal tip, Cardiomyopathy, Deeply set eye, Depressed nasal bridge, Distal amyotrophy, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Full cheeks, Hepatic fibrosis, Hepatomegaly, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Immunodeficiency, Intellectual disability, mild, Malar flattening, Midface retrusion, Muscle weakness, Myopathy, Short stature, Thin upper lip vermilion, Ventricular hypertrophy
MGE-IPC1	AC004158.2	1.275467988	7.01E-06			
MGE-IPC1	RNF26	1.883411859	7.06E-06	Unclassified	BrainSpLMD|79102	OMIM|606130
MGE-IPC1	CEP44	1.202802987	7.14E-06	Unclassified	BrainSpLMD|80817	
MGE-IPC1	CDC42SE2	0.257318675	7.14E-06	Unclassified	BrainSpLMD|56990	
MGE-IPC1	KAT2B	1.307291858	7.21E-06	Transcription regulatory protein	BrainSpLMD|8850	SFARI||Autism, 2 - Strong candidate;OMIM|602303
MGE-IPC1	ARHGAP19	1.980058865	7.22E-06	GTPase activating protein	BrainSpLMD|84986	OMIM|611587
MGE-IPC1	CCDC77	1.728318738	7.27E-06	Unclassified	BrainSpLMD|84318	
MGE-IPC1	HIST1H1C	0.844130963	7.43E-06	DNA binding protein	BrainSpLMD|3006;Eurexp|euxassay_015954|ventricular layer	OMIM|142710
MGE-IPC1	TUBB6	1.812611014	7.52E-06	Cytoskeletal protein	BrainSpLMD|84617;Eurexp|euxassay_015347|cervical, cervico-thoracic, cochlear component, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, inferior, medulla oblongata, metencephalon, midbrain, neural retina, nucleus pulposus, olfactory, spinal cord, stroma, superior, telencephalon, thoracic, tongue, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII	OMIM|615103
MGE-IPC1	CNTROB	1.510469991	7.79E-06	Cell cycle control protein;Unclassified	BrainSpLMD|116840	OMIM|611425
MGE-IPC1	ILVBL	2.402670546	7.93E-06	Enzyme: Synthase	BrainSpLMD|10994	OMIM|605770
MGE-IPC1	TUBAP2	0.521687014	8.76E-06			
MGE-IPC1	ZNF850	1.760490034	8.77E-06			
MGE-IPC1	RBM15	0.664537519	8.82E-06	RNA binding protein	BrainSpLMD|64783	OMIM|606077;COSMIC||acute megakaryocytic leukaemia
MGE-IPC1	HMGN2P6	0.383968824	9.57E-06			
MGE-IPC1	CARD8	1.052760711	9.63E-06	Adapter molecule	BrainSpLMD|22900	OMIM|609051
MGE-IPC1	C4orf46	1.601673638	9.97E-06	Unclassified		OMIM|616210
MGE-IPC1	RUVBL1	1.194283497	1.03E-05	DNA binding protein	BrainSpLMD|8607	OMIM|603449
MGE-IPC1	LMO7	0.5557526	1.09E-05	Transcription regulatory protein	BrainSpLMD|4008	OMIM|604362
MGE-IPC1	BANF1	0.626494066	1.10E-05	DNA binding protein	BrainSpLMD|8815	OMIM|603811;HPO|8815|Abnormality of the forearm, Abnormality of the ribs, Atherosclerosis, Autosomal recessive inheritance, Convex nasal ridge, Delayed closure of the anterior fontanelle, Dental crowding, Failure to thrive, Flexion contracture, Joint stiffness, Lipoatrophy, Malar flattening, Micrognathia, Midface retrusion, Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Progressive clavicular acroosteolysis, Proptosis, Pulmonary arterial hypertension, Right bundle branch block, Scoliosis, Short stature, Sinus tachycardia, Sparse and thin eyebrow, Sparse eyelashes, Spotty hyperpigmentation, Wide cranial sutures
MGE-IPC1	PHGDH	0.43026738	1.14E-05	Enzyme: Dehydrogenase	BrainSpLMD|26227	OMIM|606879;HPO|26227|Ablepharon, Abnormality of the philtrum, Absent eyelashes, Absent septum pellucidum, Adducted thumb, Agenesis of corpus callosum, Ambiguous genitalia, Aplasia/Hypoplasia involving the skeletal musculature, Autosomal recessive inheritance, Bifid uterus, Broad foot, Calcaneovalgus deformity, Camptodactyly, Cataract, Cerebellar hypoplasia, Cerebral dysmyelination, Choroid plexus cyst, Cleft palate, Cleft upper lip, Clinodactyly, Congenital cataract, Congenital microcephaly, Cryptorchidism, Dandy-Walker malformation, Decreased fetal movement, Decreased testicular size, Depressed nasal ridge, Everted lower lip vermilion, External genital hypoplasia, Finger syndactyly, Generalized edema, Growth delay, Hydranencephaly, Hypertelorism, Hypogonadism, Hypsarrhythmia, Ichthyosis, Intellectual disability, Intrauterine growth retardation, Joint contracture of the hand, Lack of skin elasticity, Large hands, Lissencephaly, Macrogyria, Macrotia, Megaloblastic anemia, Microcephaly, Micrognathia, Micromelia, Microphthalmia, Muscle cramps, Muscular dystrophy, Nystagmus, Opisthotonus, Pachygyria, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Polymicrogyria, Proptosis, Pterygium, Pulmonary hypoplasia, Radial deviation of finger, Renal agenesis, Rocker bottom foot, Seizures, Short neck, Short umbilical cord, Skeletal muscle atrophy, Sloping forehead, Small placenta, Spastic tetraplegia, Spina bifida, Stillbirth, Thick lower lip vermilion, Thick vermilion border, Thrombocytopenia, Toe syndactyly, Transposition of the great arteries, Trismus, Ventricular septal defect, Yellow subcutaneous tissue covered by thin, scaly skin
MGE-IPC1	ODF2	1.327954984	1.14E-05	Motor protein	BrainSpLMD|4957	OMIM|602015
MGE-IPC1	HIGD2A	0.818310402	1.19E-05	Unclassified	BrainSpLMD|192286	
MGE-IPC1	ACTN1	1.309908994	1.19E-05	Cytoskeletal associated protein;Structural protein	BrainSpLMD|87	OMIM|102575;HPO|87|Anisocytosis, Autosomal dominant inheritance, Increased mean platelet volume, Thrombocytopenia
MGE-IPC1	EIF4EP2	0.86870534	1.25E-05			
MGE-IPC1	RBM26	0.269703547	1.27E-05	RNA binding protein	BrainSpLMD|64062	
MGE-IPC1	CHD7	0.472383867	1.28E-05	DNA binding protein	Eurexp|euxassay_010758|marginal layer, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|608892;HPO|55636|Abnormality of body height, Abnormality of female internal genitalia, Abnormality of lymphocytes, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Alopecia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bifid scrotum, Breast hypoplasia, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Desquamation of skin soon after birth, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysphagia, Edema, Eosinophilia, Erectile abnormalities, Erythroderma, Esophageal atresia, Eunuchoid habitus, External ear malformation, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Female hypogonadism, Fever, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Hepatomegaly, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphopenia, Malar flattening, Male hypogonadism, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Non-obstructive azoospermia, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Pneumonia, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Secondary amenorrhea, Sensorineural hearing impairment, Severe combined immunodeficiency, Sparse body hair, Splenomegaly, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Thickened skin, Tracheoesophageal fistula, Umbilical hernia, Ventricular septal defect, Wide intermamillary distance
MGE-IPC1	NBPF25P	1.442729762	1.33E-05			
MGE-IPC1	LARP7	1.11713478	1.40E-05	Unclassified	BrainSpLMD|51574;Eurexp|euxassay_006535|embryo	OMIM|612026;HPO|51574|Autosomal recessive inheritance, Decreased body weight, Deeply set eye, Depressed nasal bridge, Global developmental delay, Intellectual disability, severe, Low-set ears, Malar flattening, Microcephaly, Scoliosis, Severe short stature, Short philtrum, Thick vermilion border, Wide mouth, Wide nasal bridge, Wide nose
MGE-IPC1	ASXL1	0.880995835	1.42E-05	Transcription regulatory protein	BrainSpLMD|171023	OMIM|612990;COSMIC||MDS, CMML, Bohring-Opitz syndrome;HPO|171023|Abnormality of cardiovascular system morphology, Abnormality of the anterior chamber, Abnormality of the optic nerve, Abnormality of the pancreas, Accessory oral frenulum, Agenesis of corpus callosum, Atrial septal defect, Autosomal dominant inheritance, Autosomal recessive inheritance, Biparietal narrowing, Broad alveolar ridges, Broad palm, Camptodactyly, Camptodactyly of finger, Cerebral cortical atrophy, Cleft palate, Cleft upper lip, Convex nasal ridge, Dandy-Walker malformation, Death in infancy, Deep palmar crease, Deep plantar creases, Delayed peripheral myelination, Dislocated radial head, Elbow dislocation, Facial hemangioma, Failure to thrive, Feeding difficulties, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Heterotopia, Hirsutism, Hyperechogenic pancreas, Hypertelorism, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Intellectual disability, profound, Intellectual disability, severe, Intestinal malrotation, Intrauterine growth retardation, Limitation of joint mobility, Long face, Low anterior hairline, Low-set ears, Mesomelic/rhizomelic limb shortening, Microcephaly, Micrognathia, Myelodysplasia, Myopia, Narrow chest, Narrow forehead, Narrow palate, Nevus flammeus, Nevus flammeus of the forehead, Overlapping toe, Platyspondyly, Polyhydramnios, Posteriorly rotated ears, Prominent forehead, Prominent metopic ridge, Proptosis, Retinopathy, Retrognathia, Sacral dimple, Seizures, Short thorax, Short toe, Somatic mutation, Strabismus, Supernumerary nipple, Syndactyly, Synophrys, Tapered finger, Thick hair, Trigonocephaly, Ulnar deviation of finger, Ulnar deviation of the wrist, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Vesicoureteral reflux, Wide intermamillary distance, Wide nasal bridge
MGE-IPC1	NRF1	0.421320496	1.48E-05	DNA binding protein	BrainSpLMD|4899;Eurexp|euxassay_011903|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, scapula, tibia, turbinate bones	OMIM|600879
MGE-IPC1	TRMU	1.284908259	1.61E-05	RNA methyltransferase	BrainSpLMD|55687	OMIM|610230;HPO|55687|Abdominal distention, Abnormality of the coagulation cascade, Acute hepatic failure, Aminoglycoside-induced hearing loss, Autosomal recessive inheritance, Elevated hepatic transaminases, Feeding difficulties in infancy, Generalized hypotonia, Hepatomegaly, Hyperbilirubinemia, Increased serum lactate, Jaundice, Lactic acidosis, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Mitochondrial inheritance, Mitochondrial respiratory chain defects, Vomiting
MGE-IPC1	SAP30	1.218154758	1.65E-05	Regulatory/other subunit	BrainSpLMD|8819	OMIM|603378
MGE-IPC1	NIF3L1	1.123231571	1.68E-05	Transcription regulatory protein	BrainSpLMD|60491	OMIM|605778
MGE-IPC1	YBX1	0.414642334	1.80E-05	Transcription factor	BrainSpLMD|4904	OMIM|154030
MGE-IPC1	HNRNPA1P7	0.554228141	1.94E-05			
MGE-IPC1	ZSCAN16.AS1	0.977843376	1.95E-05			
MGE-IPC1	EXOSC9	1.331884609	1.99E-05	Ribonuclease	BrainSpLMD|5393	OMIM|606180
MGE-IPC1	NUP50	0.765537297	2.01E-05	Transport/cargo protein	BrainSpLMD|10762	OMIM|604646
MGE-IPC1	GNG11	1.217602333	2.04E-05	G protein	BrainSpLMD|2791	OMIM|604390
MGE-IPC1	NBPF1	0.885764069	2.09E-05	Unclassified		OMIM|610501
MGE-IPC1	SPATA5	0.746489294	2.16E-05	ATPase	BrainSpLMD|166378	OMIM|613940;HPO|166378|Absent speech, Autosomal recessive inheritance, EEG abnormality, Feeding difficulties, Global developmental delay, Intellectual disability, Intellectual disability, severe, Limb hypertonia, Microcephaly, Muscular hypotonia of the trunk, Seizures, Sensorineural hearing impairment, Spasticity
MGE-IPC1	TMED5	0.642533968	2.35E-05	Unclassified	BrainSpLMD|50999	OMIM|616876
MGE-IPC1	TEX30	0.576295589	2.35E-05	Unclassified	BrainSpLMD|93081;Eurexp|euxassay_007574|ventricular layer	
MGE-IPC1	FGFR1OP	1.53452561	2.41E-05	Unclassified	BrainSpLMD|11116	OMIM|605392;COSMIC||MPN, NHL
MGE-IPC1	CENPI	1.754060883	2.42E-05	Unclassified	BrainSpLMD|2491	OMIM|300065
MGE-IPC1	CASC10	1.386480334	2.45E-05	Unclassified		
MGE-IPC1	PCBD2	1.45685556	2.46E-05	Enzyme: Dehydratase	BrainSpLMD|84105	OMIM|609836
MGE-IPC1	NES	0.628890451	2.48E-05	Cytoskeletal protein	BrainSpLMD|10763;Eurexp|euxassay_017860|calyces, diaphragm, head mesenchyme, meninges, mesenchyme, skeletal muscle, tongue, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|17775	OMIM|600915
MGE-IPC1	SORT1	1.110566375	2.50E-05	Cell surface receptor	BrainSpLMD|6272;BrainSpMouseDev|20423	OMIM|602458
MGE-IPC1	DGKB	1.625605694	2.51E-05	Lipid Kinase	BrainSpLMD|1607;Eurexp|euxassay_009581|anterior abdominal wall, mantle layer, ventricular layer	OMIM|604070
MGE-IPC1	ALDH16A1	1.212384698	2.61E-05	Unclassified	BrainSpLMD|126133	OMIM|613358
MGE-IPC1	DCTN3	0.755018649	2.86E-05	Cell cycle control protein	BrainSpLMD|11258	OMIM|607387
MGE-IPC1	RPL8	0.30200595	3.17E-05	Ribosomal subunit	BrainSpLMD|6132;Eurexp|euxassay_006230|left, right	OMIM|604177
MGE-IPC1	NGLY1	0.986326181	3.20E-05	Enzyme: Glycosidase	BrainSpLMD|55768;Eurexp|euxassay_003147|axial muscle, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, thymus primordium, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|610661;HPO|55768|Alacrima, Autosomal recessive inheritance, Fever, Generalized hypotonia, Pain, Polyneuropathy, Short foot, Small hand
MGE-IPC1	GTF2A2	0.639262057	3.31E-05	Transcription factor	BrainSpLMD|2958	OMIM|600519
MGE-IPC1	G3BP1	0.38788941	3.49E-05	RNA binding protein;Ribonuclease	BrainSpLMD|10146	OMIM|608431
MGE-IPC1	PSMA4	0.588943046	3.66E-05	Ubiquitin proteasome system protein	BrainSpLMD|5685	OMIM|176846
MGE-IPC1	REST	0.894927394	3.69E-05	Transcription regulatory protein	BrainSpLMD|5978;BrainSpMouseDev|19475	OMIM|600571;HPO|5978|Abdominal pain, Gingival fibromatosis, Gingival overgrowth, Nephroblastoma
MGE-IPC1	NCAPG2	1.001070138	3.79E-05	Unclassified	BrainSpLMD|54892;Eurexp|euxassay_002384|axial muscle, epithelium, lobe, olfactory, ventricular layer	OMIM|608532
MGE-IPC1	MGME1	0.957841142	4.09E-05	Unclassified	BrainSpLMD|92667	OMIM|615076;HPO|92667|Autosomal recessive inheritance, Dysphonia, Dyspnea, Easy fatigability, Elevated serum creatine phosphokinase, Exercise intolerance, Facial palsy, Generalized amyotrophy, Hypergonadotropic hypogonadism, Hyporeflexia, Kyphosis, Nasal speech, Progressive, Progressive external ophthalmoplegia, Proximal amyotrophy, Ptosis, Recurrent infections, Respiratory insufficiency, Spinal deformities, Spinal rigidity
MGE-IPC1	HES6	0.540945978	4.12E-05	Transcription regulatory protein	BrainSpLMD|55502;Eurexp|euxassay_018314|head mesenchyme, marginal layer, mesenchyme, molar, neural retina, olfactory, respiratory, retina, skeletal muscle, thymus primordium, trachea, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|35214	OMIM|610331
MGE-IPC1	CEP83	0.409023347	4.25E-05	Unclassified	BrainSpLMD|51134;Eurexp|euxassay_005968|brain, cervical, cervico-thoracic, cochlea, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, lip, olfactory, oral epithelium, oral region, palatal shelf, spinal cord, submandibular gland primordium, thoracic, thymus primordium, tongue, trigeminal V, utricle, vagus X, vestibulocochlear VIII	OMIM|615847;HPO|51134|Autosomal recessive inheritance, Nephronophthisis, Stage 5 chronic kidney disease, Thickening of the glomerular basement membrane, Tubular atrophy, Tubulointerstitial nephritis
MGE-IPC1	PSME2P2	0.748955295	4.46E-05			
MGE-IPC1	AAMDC	1.270646641	4.61E-05	Unclassified	BrainSpLMD|28971	
MGE-IPC1	WDPCP	0.51068134	4.64E-05	Unclassified	BrainSpLMD|51057;Eurexp|euxassay_014120|choroid invagination, choroid plexus, epithelium, floor plate, floorplate, larynx, mantle layer, naso-lacrimal duct, olfactory, oral epithelium, roof plate, tegmentum	OMIM|613580;HPO|51057|2-3 finger syndactyly, Abnormal electroretinogram, Aplasia/Hypoplasia of the iris, Autosomal recessive inheritance, Benign neoplasm of the central nervous system, Broad hallux, Cataract, Chorioretinal abnormality, Cleft palate, Coarctation of aorta, Complete atrioventricular canal defect, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal ridge, Encephalocele, Full cheeks, Hamartoma of tongue, Hypertelorism, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Intellectual disability, Lobar holoprosencephaly, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Nystagmus, Obesity, Oligohydramnios, Optic atrophy, Patent ductus arteriosus, Pigmentary retinopathy, Postaxial foot polydactyly, Postaxial hand polydactyly, Sclerocornea, Short stature, Sloping forehead, Subvalvular aortic stenosis, Talipes
MGE-IPC1	CBX5	0.531361073	4.69E-05	DNA binding protein	BrainSpLMD|23468	OMIM|604478
MGE-IPC1	FUBP1	0.664264696	4.72E-05	Transcription regulatory protein	BrainSpLMD|8880	OMIM|603444;COSMIC||oligodendroglioma
MGE-IPC1	CALM2P3	0.417785862	4.73E-05			
MGE-IPC1	NPM1	0.258672105	4.76E-05	Chaperone	BrainSpLMD|4869;Eurexp|euxassay_005708|embryo	OMIM|164040;COSMIC||NHL, APL, AML
MGE-IPC1	METTL7A	1.075041317	4.98E-05	Enzyme: Methyltransferase	BrainSpLMD|25840	
MGE-IPC1	RBM8A	0.745117022	5.19E-05	RNA binding protein	BrainSpLMD|9939;Eurexp|euxassay_006586|embryo	SFARI||Autism, No category;OMIM|605313;HPO|9939|Abnormality of coagulation, Absent radius, Adducted thumb, Anemia, Anteverted nares, Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasia of the ulna, Aplasia/hypoplasia of the humerus, Atrial septal defect, Autosomal recessive inheritance, Bilateral radial aplasia, Brachycephaly, Broad forehead, Broad thumb, Carpal synostosis, Clinodactyly of the 5th finger, Cow milk allergy, Coxa valga, Decreased antibody level in blood, Eosinophilia, Genu varum, High forehead, Hip dislocation, Horseshoe kidney, Intellectual disability, Low-set, posteriorly rotated ears, Meckel diverticulum, Micrognathia, Motor delay, Pancreatic cysts, Patellar aplasia, Patellar dislocation, Seborrheic dermatitis, Seizures, Shoulder muscle hypoplasia, Spina bifida, Thrombocytopenia, Tibial torsion, Ventricular septal defect
MGE-IPC1	TMEM19	1.088748775	5.26E-05	Integral membrane protein	BrainSpLMD|55266	
MGE-IPC1	GNG5P2	0.265633197	5.37E-05			
MGE-IPC1	RNF5	0.633184712	5.49E-05	Enzyme: Ligase		OMIM|602677
MGE-IPC1	RGS3	1.530629773	5.92E-05	GTPase activating protein	BrainSpLMD|5998	OMIM|602189
MGE-IPC1	HNRNPA1P4	0.637321456	6.00E-05			
MGE-IPC1	LSM14A	0.490062509	6.21E-05	Unclassified	BrainSpLMD|26065	OMIM|610677;COSMIC||Spitzoid tumour
MGE-IPC1	TGIF1	0.924391458	6.25E-05	Transcription factor	BrainSpLMD|7050;Eurexp|euxassay_007804|cortex, fundus region, hindgut, lung, midgut, oesophagus, rectum, testis, urethra, ventricular layer, vibrissa;BrainSpMouseDev|21574	OMIM|602630;HPO|7050|Absent nasal septal cartilage, Autosomal dominant inheritance, Depressed nasal bridge, Depressed nasal tip, Hypotelorism, Median cleft lip, Median cleft lip and palate, Ptosis, Semilobar holoprosencephaly
MGE-IPC1	ABAT	1.000204965	6.33E-05	Enzyme: Aminotransferase	BrainSpLMD|18;Eurexp|euxassay_001907|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, thymus primordium, trigeminal V, ventricular layer;BrainSpMouseDev|92603	SFARI||Autism, 4 - Minimal evidence;OMIM|137150;HPO|18|Agenesis of corpus callosum, Autosomal recessive inheritance, Cerebellar hypoplasia, Death in childhood, Downslanted palpebral fissures, Global developmental delay, High-pitched cry, Hyperreflexia, Lethargy, Leukodystrophy, Posterior fossa cyst, Retrognathia, Seizures, Severe muscular hypotonia, Tall stature
MGE-IPC1	POLQ	1.28034962	6.50E-05	DNA polymerase	BrainSpLMD|10721	OMIM|604419;COSMIC||oral SCC, breast cancer
MGE-IPC1	NDUFAF1	0.717798112	6.56E-05	Chaperone	BrainSpLMD|51103;Eurexp|euxassay_018896|embryo	OMIM|606934;HPO|51103|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
MGE-IPC1	TMSB15A	0.608507953	6.60E-05	Unclassified	BrainSpLMD|11013	OMIM|300939
MGE-IPC1	BRCA2	0.844519557	6.64E-05	Transcription regulatory protein	BrainSpLMD|675;Eurexp|euxassay_019615|ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|600185;COSMIC||breast, ovarian, pancreatic, breast, ovarian, pancreatic, leukaemia  (FANCB, FANCD1);HPO|675|Abdominal pain, Abnormality of chromosome stability, Abnormality of the fallopian tube, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone marrow hypocellularity, Breast carcinoma, Chromosomal breakage induced by crosslinking agents, Esophageal atresia, Global developmental delay, Heterogeneous, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Nephroblastoma, Ovarian neoplasm, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Somatic mutation, Thrombocytopenia, Tracheoesophageal fistula
MGE-IPC1	SMIM14	0.890682148	6.89E-05	Unclassified	BrainSpLMD|201895;Eurexp|euxassay_007513|brain, choroid invagination, choroid plexus, clavicle, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, liver, mandible, maxilla, neural retina, orbito-sphenoid, rib, roof plate, scapula, spinal cord, tibia, trigeminal V, vagus X, vestibulocochlear VIII	
MGE-IPC1	MPPED2	0.814166925	7.28E-05	Enzyme: Hydrolase	BrainSpLMD|744;Eurexp|euxassay_014223|axial skeleton, head mesenchyme, rib, thyroid, ventricular layer	OMIM|600911
MGE-IPC1	GDI2	0.775882064	8.08E-05	Membrane transport protein	BrainSpLMD|2665	OMIM|600767
MGE-IPC1	ADCY3	1.381359927	8.11E-05	Adenylate cyclase	BrainSpLMD|109;Eurexp|euxassay_018616|facial VII, olfactory, trigeminal V, ventral grey horn	SFARI||Autism, 3 - Suggestive evidence;OMIM|600291
MGE-IPC1	HNRNPA1L2	0.668064002	8.28E-05	RNA binding protein		
MGE-IPC1	HSPA13	0.966592483	8.28E-05	Chaperone	BrainSpLMD|6782	OMIM|601100
MGE-IPC1	RNFT2	1.300512534	8.32E-05	Unclassified	BrainSpLMD|84900	
MGE-IPC1	NDUFAF3	0.526450636	8.71E-05	Unclassified	BrainSpLMD|25915;Eurexp|euxassay_006731|olfactory	OMIM|612911;HPO|25915|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
MGE-IPC1	HIST1H4C	1.3074976	9.38E-05	DNA binding protein	BrainSpLMD|8364	OMIM|602827
MGE-IPC1	CENPO	1.124256763	9.61E-05	Unclassified	BrainSpLMD|79172;Eurexp|euxassay_000072|Meckel's cartilage, basal plate, chondrocranium, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, molar, olfactory, submandibular gland primordium, testis, thymus primordium, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|611504
MGE-IPC1	ZHX2	0.883682112	9.68E-05	Transcription factor	BrainSpLMD|22882;BrainSpMouseDev|122629	OMIM|609185
MGE-IPC1	FANCM	0.722686279	9.80E-05	ATPase;Enzyme: Translocase	BrainSpLMD|57697;Eurexp|euxassay_008121|lung, mandible, petrous part	OMIM|609644;HPO|57697|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Esophageal atresia, Global developmental delay, Growth delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
MGE-IPC1	RUVBL2	1.072744365	0.000100728	Transcription regulatory protein	BrainSpLMD|10856;Eurexp|euxassay_002276|axial muscle, orbito-sphenoid, skeletal muscle, submandibular gland primordium, turbinate	OMIM|604788
MGE-IPC1	TMEM60	1.413112991	0.000101138	Integral membrane protein	BrainSpLMD|85025	
MGE-IPC1	HIST1H1D	1.482964637	0.000108094	DNA binding protein	BrainSpLMD|3007;Eurexp|euxassay_000515|marginal layer, ventricular layer	OMIM|142210
MGE-IPC1	RPL22L1	0.863837794	0.000108118	Unclassified		
MGE-IPC1	KBTBD2	1.099979287	0.000113952	Cytoskeletal associated protein	BrainSpLMD|25948	
MGE-IPC1	SNORA72	0.758374603	0.000116358			
MGE-IPC1	MYO1E	1.453318293	0.000118786	Motor protein	BrainSpLMD|4643	OMIM|601479;HPO|4643|Autosomal recessive inheritance, Chronic kidney disease, Edema, Focal segmental glomerulosclerosis, Hematuria, Hypoalbuminemia, Nephrotic syndrome, Progressive, Proteinuria, Tubular atrophy
MGE-IPC1	DZIP3	0.710051905	0.000126495	Ubiquitin proteasome system protein	BrainSpLMD|9666	OMIM|608672
MGE-IPC1	HMGCR	0.254304593	0.000127412	Enzyme: Reductase	BrainSpLMD|3156;Eurexp|euxassay_004330|brain, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nucleus pulposus, spinal cord, thoracic, trigeminal V, vagus X	OMIM|142910
MGE-IPC1	ATF7IP2	1.864296927	0.000128766	Unclassified	BrainSpLMD|80063	OMIM|613645
MGE-IPC1	LIN54	1.052301844	0.000130977	Unclassified	BrainSpLMD|132660	OMIM|613367
MGE-IPC1	GMNN	0.353065115	0.000147303	Cell cycle control protein	BrainSpLMD|51053;Eurexp|euxassay_013652|cortex, incisor, lobe, lung, molar, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|602842;HPO|51053|Abnormality of epiphysis morphology, Abnormality of the ribs, Anotia, Aplastic clavicles, Atresia of the external auditory canal, Autosomal dominant inheritance, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Conductive hearing impairment, Craniosynostosis, Cryptorchidism, Delayed puberty, Delayed skeletal maturation, Depressed nasal ridge, Failure to thrive, Feeding difficulties, Growth hormone deficiency, High, narrow palate, Hip dysplasia, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Microtia, third degree, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Recurrent respiratory infections, Respiratory distress, Respiratory failure, Retrognathia, Severe short stature, Short middle phalanx of finger, Slender long bone, Stenosis of the external auditory canal, Umbilical hernia
MGE-IPC1	SMC3	0.467649299	0.000148985	Unclassified	BrainSpLMD|9126;Eurexp|euxassay_000017|cortex, dorsal root ganglion, heart, larynx, lung, rest of mesenchyme, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|606062;HPO|9126|Abnormality of the cardiac septa, Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Brachydactyly, Bulbous nose, Clinodactyly of the 5th finger, Cognitive impairment, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downturned corners of mouth, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hirsutism, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Limited elbow movement, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phenotypic variability, Phthisis bulbi, Poor speech, Premature birth, Prominent nasal bridge, Proximal placement of thumb, Ptosis, Pulmonic stenosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Synophrys, Thick eyebrow, Thick hair, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Vesicoureteral reflux, Widely spaced teeth
MGE-IPC1	MSI2	0.328169867	0.000150066	RNA binding protein	BrainSpLMD|124540	OMIM|607897;COSMIC||CML
MGE-IPC1	KIAA1731	1.087989464	0.000150977			
MGE-IPC1	TICRR	1.351401869	0.000156142	Unclassified	BrainSpLMD|90381	OMIM|613298
MGE-IPC1	KIAA0586	0.838768637	0.000160209	Unclassified	BrainSpLMD|9786	OMIM|610178;HPO|9786|Abnormality of eye movement, Abnormality of the pinna, Anencephaly, Aplastic clavicles, Apnea, Ataxia, Atrial septal defect, Autosomal recessive inheritance, Biparietal narrowing, Cerebellar vermis hypoplasia, Cleft palate, Congenital diaphragmatic hernia, Depressed nasal bridge, Episodic tachypnea, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Hydrocephalus, Hyporeflexia, Intellectual disability, Long face, Low-set ears, Micromelia, Micropenis, Molar tooth sign on MRI, Muscular hypotonia, Narrow chest, Nystagmus, Oculomotor apraxia, Polyhydramnios, Polymicrogyria, Postaxial polydactyly, Preaxial polydactyly, Pulmonary hypoplasia, Retinal coloboma, Short neck, Short ribs, Tachypnea
MGE-IPC1	RPLP0	0.493100456	0.000167335	Ribosomal subunit	BrainSpLMD|6175	OMIM|180510
MGE-IPC1	MPP5	1.004723799	0.000175362	Unclassified	BrainSpLMD|64398	OMIM|606958
MGE-IPC1	CD99	0.38524825	0.000178171	Unclassified		OMIM|450000
MGE-IPC1	MID1	1.237420714	0.000188374	Transcription regulatory protein;Ubiquitin proteasome system protein	BrainSpLMD|4281;Eurexp|euxassay_013835|excretory component, marginal layer, neural retina, ventricular layer;BrainSpMouseDev|17087	OMIM|300552;HPO|4281|Abnormal heart morphology, Abnormality of the nasopharynx, Agenesis of corpus callosum, Anal atresia, Anteverted nares, Aspiration, Cleft palate, Cleft upper lip, Cryptorchidism, Dysphagia, Esophageal atresia, Frontal bossing, Gastroesophageal reflux, Global developmental delay, Heterogeneous, High palate, Hypertelorism, Hypospadias, Posterior pharyngeal cleft, Prominent forehead, Smooth philtrum, Telecanthus, Thin upper lip vermilion, Tracheoesophageal fistula, Wide nasal bridge, Widow's peak, X-linked recessive inheritance
MGE-IPC1	SLC16A1	1.031816115	0.000190021	Membrane transport protein	BrainSpLMD|6566;Eurexp|euxassay_003351|Meckel's cartilage, axial muscle, capsule, clavicle, epidermis, foregut-midgut junction, glomeruli, hindgut, incisor, left lung, lobe, loop, marginal layer, meninges, midgut, molar, nasal septum, olfactory, pancreas, rectum, right lung, submandibular gland primordium, testis, thymus primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|600682;HPO|6566|Autosomal dominant inheritance, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise-induced muscle cramps, Exercise-induced muscle fatigue, Exercise-induced muscle stiffness, Feeding difficulties, Global developmental delay, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability, Ketoacidosis, Ketotic hypoglycemia, Pancreatic islet-cell hyperplasia
MGE-IPC1	RP11.798M19.6	0.812181763	0.000190434			
MGE-IPC1	ZNF618	1.230483493	0.000190625	Unclassified	BrainSpLMD|114991	OMIM|617077
MGE-IPC1	NUP62	0.750351129	0.000195628	Transport/cargo protein	BrainSpLMD|23636	OMIM|605815;HPO|23636|Autosomal recessive inheritance, Choreoathetosis, Developmental regression, Developmental stagnation, Dysphagia, Dystonia, Failure to thrive, Intellectual disability, Optic atrophy, Pendular nystagmus, Spasticity
MGE-IPC1	TAF7	0.599034603	0.000203733	Transcription factor	BrainSpLMD|6879;Eurexp|euxassay_005528|testis;BrainSpMouseDev|23825	OMIM|600573
MGE-IPC1	RPL7P23	0.320267681	0.000203859			
MGE-IPC1	PLIN2	0.406270567	0.000215019	Storage protein	BrainSpLMD|123	OMIM|103195
MGE-IPC1	ZCCHC8	0.957952546	0.000215835	Unclassified	BrainSpLMD|55596	OMIM|616381;COSMIC||Spitzoid tumour
MGE-IPC1	CBLL1	0.49804199	0.000219187	Ubiquitin proteasome system protein	BrainSpLMD|79872;Eurexp|euxassay_012773|ventricle	OMIM|606872
MGE-IPC1	LRR1	1.305213866	0.000220198	Unclassified	BrainSpLMD|122769	OMIM|609193
MGE-IPC1	CCT6A	0.508386315	0.000221667	Chaperone	BrainSpLMD|908	OMIM|104613
MGE-IPC1	SF3B3	0.585793215	0.000222912	RNA binding protein	BrainSpLMD|23450	OMIM|605592
MGE-IPC1	EPHA4	1.137430039	0.000231984	Receptor tyrosine kinase	BrainSpLMD|2043;BrainSpMouseDev|13616	OMIM|602188;HPO|2043|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
MGE-IPC1	THAP9	0.792006318	0.000233469	DNA binding protein	BrainSpLMD|79725	OMIM|612537
MGE-IPC1	NDC1	0.579840705	0.000244677	Anchor protein	BrainSpLMD|55706	OMIM|610115
MGE-IPC1	HSP90B3P	0.406810974	0.000245099			
MGE-IPC1	SFRP1	0.427008348	0.000251513	Secreted polypeptide	BrainSpLMD|6422;BrainSpMouseDev|20140	OMIM|604156
MGE-IPC1	CENPJ	0.701168782	0.000256023	Cytoskeletal protein	BrainSpLMD|55835;Eurexp|euxassay_014821|cortex, incisor, lung, marginal layer, molar, neural retina, olfactory, pituitary, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ	OMIM|609279;HPO|55835|11 pairs of ribs, Abnormal cortical bone morphology, Abnormality of dental enamel, Absent earlobe, Agenesis of corpus callosum, Autosomal recessive inheritance, Cachexia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital onset, Convex nasal ridge, Craniosynostosis, Decreased body weight, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Heterogeneous, Heterotopia, High forehead, Hip dysplasia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Pachygyria, Prematurely aged appearance, Reduced number of teeth, Retrognathia, Sandal gap, Short stature, Sloping forehead, Small cerebral cortex, Sparse scalp hair, Steep acetabular roof, Thin upper lip vermilion, Underdeveloped nasal alae, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-IPC1	TTLL5	0.632684942	0.000263587	Unclassified	BrainSpLMD|23093;Eurexp|euxassay_012593|choroid invagination, choroid plexus, roof plate	OMIM|612268;HPO|23093|Abnormality of color vision, Abnormality of retinal pigmentation, Autosomal recessive inheritance, Cone/cone-rod dystrophy, Nyctalopia, Photophobia
MGE-IPC1	ANAPC11	0.48497082	0.000268554	Enzyme: Ligase	BrainSpLMD|51529	OMIM|614534
MGE-IPC1	RGS2	1.177030302	0.0002782	GTPase activating protein	BrainSpLMD|5997;Eurexp|euxassay_012997|adrenal gland, floor plate, floorplate, mantle layer, pineal primordium, pituitary	OMIM|600861
MGE-IPC1	ZNRD1	1.010186682	0.000278356	Transcription factor	BrainSpLMD|30834	OMIM|607525
MGE-IPC1	PPP1CC	0.857062463	0.000290482	Serine/threonine phosphatase	BrainSpLMD|5501	OMIM|176914
MGE-IPC1	UQCRFS1	1.135233435	0.000313149	Enzyme: Reductase	BrainSpLMD|7386	OMIM|191327
MGE-IPC1	RPLP0P6	0.425517906	0.000314508			
MGE-IPC1	TMSB4X	0.29179207	0.000315316	Cytoskeletal associated protein		OMIM|300159
MGE-IPC1	ECI2	0.74425496	0.000319572	Enzyme: Isomerase;Unclassified	BrainSpLMD|10455	OMIM|608024
MGE-IPC1	RP5.821D11.7	0.650600775	0.000328454			
MGE-IPC1	LRRC58	0.709619028	0.000339841	Unclassified		
MGE-IPC1	CDCA5	1.111761892	0.000340743	Unclassified	BrainSpLMD|113130	OMIM|609374
MGE-IPC1	NSMCE1	0.420521739	0.000348594	Unclassified	BrainSpLMD|197370	OMIM|617263
MGE-IPC1	PMS2P1	0.90794856	0.000348765			OMIM|605038
MGE-IPC1	ERH	0.306563126	0.000352503	Transcription regulatory protein	BrainSpLMD|2079;Eurexp|euxassay_018034|orbito-sphenoid, ventricular layer	OMIM|601191
MGE-IPC1	EXOSC8	0.795679536	0.000369508	Ribonuclease	BrainSpLMD|11340	OMIM|606019;HPO|11340|Autosomal recessive inheritance, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Failure to thrive, Feeding difficulties, Global developmental delay, Hearing impairment, Hypoplasia of the corpus callosum, Muscle weakness, Respiratory failure, Spastic tetraparesis, Spinal muscular atrophy, Visual impairment
MGE-IPC1	RP11.98J23.2	1.277692402	0.000377017			
MGE-IPC1	NUP107	0.90821471	0.000377423	Transport/cargo protein	BrainSpLMD|57122	OMIM|607617;HPO|57122|Aplasia/Hypoplasia of the breasts, Aplasia/hypoplasia of the uterus, Autosomal recessive inheritance, Decreased fertility, Decreased serum estradiol, Delayed puberty, Delayed skeletal maturation, Gonadal dysgenesis, Hypoalbuminemia, Increased circulating gonadotropin level, Minimal change glomerulonephritis, Nephrotic syndrome, Osteopenia, Osteoporosis of vertebrae, Premature ovarian insufficiency, Primary amenorrhea, Progressive, Proteinuria, Sparse pubic hair, Stage 5 chronic kidney disease, Streak ovary, Variable expressivity
MGE-IPC1	SLMO2	0.646771702	0.000384308			
MGE-IPC1	RNF4	0.746880184	0.000402771	Transcription regulatory protein	BrainSpLMD|6047	OMIM|602850
MGE-IPC1	NDUFA2	0.823858547	0.00040891	Enzyme: Oxidoreductase	BrainSpLMD|4695	OMIM|602137;HPO|4695|Abnormal pattern of respiration, Ataxia, Autosomal recessive inheritance, CNS demyelination, Dysarthria, Dystonia, Emotional lability, Failure to thrive, Generalized hypotonia, Gliosis, Global developmental delay, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Nystagmus, Ophthalmoplegia, Optic atrophy, Phenotypic variability, Pigmentary retinopathy, Progressive, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Spasticity, Strabismus
MGE-IPC1	HIST1H1A	1.673263723	0.000414032	DNA binding protein	BrainSpLMD|3024	OMIM|142709
MGE-IPC1	PDLIM3	0.988197043	0.00041814	Unclassified	BrainSpLMD|27295	OMIM|605889
MGE-IPC1	PVRL3	1.223999844	0.000436966			
MGE-IPC1	AC253572.1	0.414176556	0.000437982			
MGE-IPC1	PTMAP5	0.377387119	0.000461631			
MGE-IPC1	ANP32B	0.4298138	0.000467525	Unclassified	BrainSpLMD|10541;Eurexp|euxassay_006714|embryo	
MGE-IPC1	EIF4E	0.627714502	0.000477443	Translation regulatory protein	BrainSpLMD|1977	SFARI||Autism, 4 - Minimal evidence;OMIM|133440
MGE-IPC1	HDAC6	0.792151754	0.000480226	Enzyme: Deacetylase	BrainSpLMD|10013;Eurexp|euxassay_013594|cortex, left lung, marginal layer, pancreas, right lung, thyroid;BrainSpMouseDev|14961	SFARI||Autism, No category;OMIM|300272;HPO|10013|Abnormality of the calcaneus, Death in infancy, Decreased skull ossification, Depressed nasal ridge, Distal shortening of limbs, Frontal bossing, Hydrocephalus, Hypoplasia of the calcaneus, Hypoplastic iliac wing, Intellectual disability, mild, Intrauterine growth retardation, Low-set ears, Macrocephaly, Metaphyseal chondrodysplasia, Metaphyseal cupping of metacarpals, Metaphyseal cupping of proximal phalanges, Microphthalmia, Platyspondyly, Rhizomelia, Short foot, Short nose, Short palm, Short stature, Thin ribs, X-linked dominant inheritance
MGE-IPC1	CTB.63M22.1	0.375253928	0.000481587			
MGE-IPC1	RP11.1035H13.2	0.902678519	0.000510271			
MGE-IPC1	PIH1D1	0.81539433	0.000510495	Unclassified	BrainSpLMD|55011	OMIM|611480
MGE-IPC1	METTL4	1.308374867	0.000518396	Enzyme: Methyltransferase	BrainSpLMD|64863	
MGE-IPC1	ZNF639	1.407766521	0.000545247	Unclassified	BrainSpLMD|51193	
MGE-IPC1	CCDC181	1.38856113	0.000550096	Unclassified	BrainSpLMD|57821;Eurexp|euxassay_004163|3rd ventricle, 4th ventricle, choroid invagination	
MGE-IPC1	CCDC167	0.45027833	0.000555191	Unclassified		
MGE-IPC1	LSM8	0.88835396	0.000557175	RNA binding protein	BrainSpLMD|51691	OMIM|607288
MGE-IPC1	NUP98	0.441282142	0.000571906	Transport/cargo protein	BrainSpLMD|4928	OMIM|601021;COSMIC||AML
MGE-IPC1	PCM1	0.561877218	0.000572695	Cytoskeletal associated protein	BrainSpLMD|5108	OMIM|600299;COSMIC||papillary thyroid, CML, MPN;HPO|5108|Autosomal dominant inheritance, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma
MGE-IPC1	TYMS	0.734220456	0.000572787	Enzyme: Ligase	BrainSpLMD|7298;Eurexp|euxassay_008886|cardiovascular system, cavities and their linings, gland, integumental system, limb, marginal layer, mesenchyme, sensory organ, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|188350
MGE-IPC1	LMNB1	1.17144425	0.000590825	Structural protein	BrainSpLMD|4001;Eurexp|euxassay_015910|axial skeleton, incisor, lung, marginal layer, metanephros, sublingual gland primordium, thymus primordium, thyroid, trachea, ventricular layer, vertebral axis muscle system	OMIM|150340;HPO|4001|Abnormal pyramidal signs, Abnormality of the urinary system, Adult onset, Ataxia, Autonomic bladder dysfunction, Autonomic erectile dysfunction, Autosomal dominant inheritance, Babinski sign, Constipation, Corpus callosum atrophy, Decreased sweating due to autonomic dysfunction, Depressivity, Diffuse leukoencephalopathy, Dilatation of the bladder, Gait disturbance, Gliosis, Hyperreflexia, Hypotension, Impotence, Leukodystrophy, Nystagmus, Orthostatic hypotension due to autonomic dysfunction, Personality changes, Progressive, Progressive neurologic deterioration, Pseudobulbar paralysis, Spasticity, Symmetric peripheral demyelination, Tetraparesis, Tremor, Urinary urgency
MGE-IPC1	EIF3E	0.33675183	0.000612762	Translation regulatory protein	BrainSpLMD|3646	OMIM|602210;COSMIC||colorectal
MGE-IPC1	ACTL6A	0.590396489	0.000618353	DNA binding protein	BrainSpLMD|86;Eurexp|euxassay_013581|cortex, epithelium, incisor, left lung, liver, molar, olfactory, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|604958
MGE-IPC1	RSRC1	0.618498272	0.000628788	Unclassified	BrainSpLMD|51319	OMIM|613352
MGE-IPC1	PDCD4	0.822383167	0.000641132	Unclassified	BrainSpLMD|27250;Eurexp|euxassay_010730|epidermis, epithelium, floor plate, floorplate, larynx, olfactory, sternum, thymus primordium, urethra, ventricular layer	OMIM|608610
MGE-IPC1	UXT	1.009677648	0.000644716	Transcription regulatory protein	BrainSpLMD|8409	OMIM|300234
MGE-IPC1	XPO1	0.431536701	0.000650002	Transport/cargo protein	BrainSpLMD|7514	SFARI||Autism, 4 - Minimal evidence;OMIM|602559;COSMIC||CLL
MGE-IPC1	MIS18A	0.636711948	0.000667886	Unclassified	BrainSpLMD|54069	
MGE-IPC1	SNRPG	0.545742588	0.000688593	Ribonucleoprotein	Eurexp|euxassay_001471|cervical, cervico-thoracic, cortex, thoracic, thymus primordium, ventricular layer	OMIM|603542
MGE-IPC1	RPS27L	0.745264939	0.000703151	Unclassified	BrainSpLMD|51065;Eurexp|euxassay_013950|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, pancreas, primitive seminiferous tubules, rest of mesenchyme, right lung, skeletal muscle, submandibular gland primordium, thymus primordium, tongue, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|612055
MGE-IPC1	RPS3A	0.288543547	0.000718126	Ribosomal subunit		OMIM|180478
MGE-IPC1	UTRN	0.829627743	0.000726392	Anchor protein	BrainSpLMD|7402;Eurexp|euxassay_013991|bladder, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, primitive seminiferous tubules, rectum, stomach, trigeminal V, urethra	SFARI||Autism, No category;OMIM|128240
MGE-IPC1	TUBBP1	0.483982005	0.000732239			
MGE-IPC1	ABHD10	0.713359713	0.000748743	Enzyme: Hydrolase	BrainSpLMD|55347	
MGE-IPC1	SCAF11	0.754907942	0.000750969	RNA binding protein	BrainSpLMD|9169;Eurexp|euxassay_014100|ventricle, ventricular layer	OMIM|603668
MGE-IPC1	ANP32A	0.389361398	0.000775383	MHC complex protein	BrainSpLMD|8125;Eurexp|euxassay_005670|embryo	OMIM|600832
MGE-IPC1	SEMA5A	0.303571669	0.000777189	Unclassified	BrainSpLMD|9037;BrainSpMouseDev|20119	SFARI||Autism, 3 - Suggestive evidence;OMIM|609297;HPO|9037|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
MGE-IPC1	QKI	0.38390087	0.000792021	RNA binding protein	BrainSpLMD|9444;Eurexp|euxassay_012259|diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, lens, lung, mandible, mantle layer, marginal layer, maxilla, meninges, midgut, neural retina, orbito-sphenoid, petrous part, skeletal muscle, stomach, submandibular gland primordium, turbinate, vault of skull, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|609590;COSMIC||angiocentric glioma, colorectal cancer
MGE-IPC1	CRB1	0.315639621	0.000801403	Unclassified	BrainSpLMD|23418	OMIM|604210;HPO|23418|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Encephalocele, Esotropia, Glaucoma, Hemiplegia/hemiparesis, High-grade hypermetropia, Hyperinsulinemia, Hypermetropia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Muscular hypotonia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paravenous chorioretinal atrophy, Pendular nystagmus, Photophobia, Progressive night blindness, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe visual impairment, Undetectable electroretinogram, Visual impairment, Vitreoretinal degeneration, Wide nasal bridge
MGE-IPC1	ITGB1BP1	0.535081583	0.00080668	Adapter molecule	BrainSpLMD|9270;Eurexp|euxassay_006800|left lung, right lung	OMIM|607153
MGE-IPC1	CDC7	0.92029254	0.000825489	Cell cycle control protein	BrainSpLMD|8317;Eurexp|euxassay_012050|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|603311
MGE-IPC1	PLGRKT	1.0294838	0.000850424	Integral membrane protein	BrainSpLMD|55848;Eurexp|euxassay_001488|thymus primordium	
MGE-IPC1	CYP20A1	0.402642526	0.000856927	Enzyme: Oxygenase	BrainSpLMD|57404;Eurexp|euxassay_012299|mandible, mantle layer, maxilla, orbito-sphenoid	
MGE-IPC1	CDK16	1.017175185	0.00087881	Serine/threonine kinase	BrainSpLMD|5127;Eurexp|euxassay_018526|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|311550
MGE-IPC1	EIF3D	1.022466214	0.000900423	Translation regulatory protein	BrainSpLMD|8664	OMIM|603915
MGE-IPC1	DYNC2H1	0.830030052	0.000910508	Motor protein	Eurexp|euxassay_014017|olfactory, ventricular layer	OMIM|603297;HPO|79659|Abdominal distention, Abnormal pelvis bone ossification, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the clavicle, Abnormality of the metaphysis, Abnormality of the ribs, Abnormality of the sternum, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Brachydactyly, Cleft upper lip, Cone-shaped epiphysis, Congenital hepatic fibrosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Frontal bossing, Hydronephrosis, Hydrops fetalis, Hypoplasia of penis, Lethal skeletal dysplasia, Long philtrum, Macrocephaly, Micrognathia, Micromelia, Narrow chest, Postaxial hand polydactyly, Renal hypoplasia, Respiratory insufficiency, Short foot, Short palm, Short ribs, Short thorax, Skeletal dysplasia, Urethrovaginal fistula, Uterus didelphys, Wide nose
MGE-IPC1	RPLP1	0.495911861	0.00093005	Ribosomal subunit		OMIM|180520
MGE-IPC1	SAE1	1.131698888	0.000939354	Enzyme: Ligase	BrainSpLMD|10055;Eurexp|euxassay_005976|embryo	SFARI||Autism, No category;OMIM|613294
MGE-IPC1	ZNF844	0.290006349	0.000940725		BrainSpLMD|284391	
MGE-IPC1	RRM2	0.596286509	0.000940836	Cell cycle control protein	BrainSpLMD|6241;Eurexp|euxassay_004733|footplate, handplate, hindbrain, leg, liver, lung, mantle layer, mesenchyme, metanephros, olfactory, retina, spinal cord, tail, ventricular layer, vibrissa	OMIM|180390
MGE-IPC1	TMEM256	0.612306949	0.000975141	Integral membrane protein	BrainSpLMD|254863	OMIM|617779
MGE-IPC1	QSER1	0.904607423	0.000984941	Unclassified	BrainSpLMD|79832	
MGE-IPC1	COX17	1.041033221	0.001003632	Chaperone		OMIM|604813
MGE-IPC1	RAB3IP	0.592142369	0.00101022	Guanine nucleotide exchange factor;Unclassified	BrainSpLMD|117177;Eurexp|euxassay_007883|calyces, hindgut, loop, stomach	OMIM|608686
MGE-IPC1	MT.RNR1	0.426329373	0.001036394			
MGE-IPC1	NAA38	0.331245123	0.001047682	Unclassified	BrainSpLMD|84316	
MGE-IPC1	HAUS8	0.966098034	0.001060388	Unclassified	BrainSpLMD|93323	OMIM|613434
MGE-IPC1	CCNI	0.252238344	0.001061759	Cell cycle control protein	BrainSpLMD|10983	
MGE-IPC1	TMX1	0.529916608	0.001068454	Enzyme: Oxidoreductase	BrainSpLMD|81542	OMIM|610527
MGE-IPC1	KDM4A	1.036783414	0.001114529	DNA binding protein	BrainSpLMD|9682	OMIM|609764
MGE-IPC1	ZFAND6	0.628879283	0.001124794	Adapter molecule	BrainSpLMD|54469	OMIM|610183
MGE-IPC1	TMEM194A	1.786889989	0.001142704			
MGE-IPC1	HMGN4	0.954315453	0.001149425	Transcription regulatory protein	BrainSpLMD|10473	
MGE-IPC1	HINT1	0.409778133	0.001171206	ATPase	BrainSpLMD|3094	OMIM|601314;HPO|3094|Abnormality of the foot, Autosomal recessive inheritance, Distal sensory impairment, Elevated serum creatine phosphokinase, Fasciculations, Foot dorsiflexor weakness, Hyperhidrosis, Muscle cramps, Muscle stiffness, Myokymia, Myotonia, Progressive, Sensory axonal neuropathy, Skeletal muscle atrophy
MGE-IPC1	TMX2	0.316732119	0.001173269	Integral membrane protein	Eurexp|euxassay_005201|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, lung, mantle layer, midbrain, olfactory lobe, retina, spinal cord, submandibular gland primordium, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|616715
MGE-IPC1	COX6C	0.475326068	0.001200192	Regulatory/other subunit	BrainSpLMD|1345	OMIM|124090;COSMIC||uterine leiomyoma
MGE-IPC1	PBX3	0.489658552	0.001222706	Transcription factor	BrainSpLMD|5090;Eurexp|euxassay_002571|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, pharyngo-tympanic tube, spinal cord;BrainSpMouseDev|18282	OMIM|176312
MGE-IPC1	DAZAP2	0.399330637	0.001261219	RNA binding protein	BrainSpLMD|9802;Eurexp|euxassay_002922|Meckel's cartilage, calyces, incisor, liver, lobe, molar, neural retina, olfactory, pancreas, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|607431
MGE-IPC1	COX7A2L	0.294211361	0.001269411	Enzyme: Oxidase	BrainSpLMD|9167	OMIM|605771
MGE-IPC1	PIGK	0.477314263	0.001274103	Cysteine protease	BrainSpLMD|10026	OMIM|605087
MGE-IPC1	VDAC3	0.352865146	0.001284095	Voltage gated channel	BrainSpLMD|7419;Eurexp|euxassay_007065|embryo	OMIM|610029
MGE-IPC1	CREBZF	0.798440525	0.001291162	Transcription factor	BrainSpLMD|58487;Eurexp|euxassay_019497|dorsal root ganglion, facial VII, glossopharyngeal IX, mesenchyme, neural retina, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|87640	OMIM|606444
MGE-IPC1	IFT52	0.450951225	0.001313556	Unclassified	BrainSpLMD|51098	OMIM|617094;HPO|51098|Abnormal diaphysis morphology, Abnormal toenail morphology, Abnormality of the fingernails, Abnormality of the metaphysis, Anteverted nares, Autosomal recessive inheritance, Brachydactyly, Carious teeth, Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Depressed nasal bridge, Dolichocephaly, Epicanthus, Everted lower lip vermilion, Finger syndactyly, Flat acetabular roof, Frontal bossing, Full cheeks, High forehead, Hypermetropia, Hypodontia, Hypoplasia of the corpus callosum, Hypotelorism, Joint hyperflexibility, Limb undergrowth, Low-set ears, Microdontia, Midface retrusion, Motor delay, Narrow chest, Osteoporosis, Pectus excavatum, Prominent occiput, Respiratory distress, Rhizomelia, Sandal gap, Short distal phalanx of finger, Short metacarpal, Short metatarsal, Short stature, Sparse hair, Telecanthus, Wide nasal bridge
MGE-IPC1	ZNF680	0.730498095	0.001341367	DNA binding protein	BrainSpLMD|340252	
MGE-IPC1	PCNXL4	0.526000655	0.001354548			
MGE-IPC1	GPBP1L1	0.878006265	0.001400327	Unclassified	BrainSpLMD|60313	
MGE-IPC1	KATNBL1	0.357062264	0.001427935	Unclassified		OMIM|616235
MGE-IPC1	VRK1	0.347628413	0.001476401	Serine/threonine kinase	BrainSpLMD|7443	OMIM|602168;HPO|7443|Abnormality of the foot, Ataxia, Autosomal recessive inheritance, Basal ganglia gliosis, Cerebellar hypoplasia, Congenital contracture, Congenital onset, Degeneration of anterior horn cells, EMG: neuropathic changes, Fasciculations, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hyperreflexia, Hypoplasia of the pons, Hypoplasia of the ventral pons, Intellectual disability, Muscle weakness, Neuronal loss in basal ganglia, Progressive, Respiratory insufficiency, Spinal muscular atrophy
MGE-IPC1	TMBIM6	0.387518566	0.001491375	Integral membrane protein	BrainSpLMD|7009	OMIM|600748
MGE-IPC1	FAM60A	0.708936578	0.001498484			
MGE-IPC1	LDLR	0.457943394	0.001535343	Cell surface receptor	BrainSpLMD|3949;Eurexp|euxassay_010458|adrenal gland, cervical, cervico-thoracic, clavicle, hindgut, incisor, mandible, maxilla, metanephros, midgut, orbito-sphenoid, otic capsule, rib, submandibular gland primordium, thoracic, turbinate, ventral grey horn	OMIM|606945;HPO|3949|Abnormality of internal carotid artery, Angina pectoris, Aortic atherosclerosis, Autosomal dominant inheritance, Cerebral artery atherosclerosis, Corneal arcus, Coronary atherosclerosis, Dyspnea, Heart murmur, Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia, Hypertension, Increased circulating low-density lipoprotein levels, Left ventricular failure, Myocardial infarction, Myocardial steatosis, Peripheral arterial stenosis, Precocious atherosclerosis, Premature arteriosclerosis, Premature coronary artery disease, Renal artery stenosis, Sudden cardiac death, Xanthelasma
MGE-IPC1	LINC00998	1.115535656	0.001556691			
MGE-IPC1	IKBIP	0.596889278	0.001565233	Unclassified	BrainSpLMD|121457;Eurexp|euxassay_008119|mandible, maxilla, rib	OMIM|609861
MGE-IPC1	ANAPC10	1.647427705	0.001579733	Cell cycle control protein	BrainSpLMD|10393	OMIM|613745
MGE-IPC1	CWC15	0.718534058	0.001585546	Unclassified	BrainSpLMD|51503	
MGE-IPC1	NFYC	0.997079175	0.001638638	Transcription factor	BrainSpLMD|4802;BrainSpMouseDev|17813	OMIM|605344
MGE-IPC1	MND1	1.179292318	0.001661879	Unclassified	BrainSpLMD|84057	OMIM|611422
MGE-IPC1	FAM102B	0.393481495	0.001690819	Unclassified	Eurexp|euxassay_007966|dorsal root ganglion, glossopharyngeal IX, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	
MGE-IPC1	NACA	0.274202979	0.001731796	Chaperone	BrainSpLMD|4666	OMIM|601234;COSMIC||NHL
MGE-IPC1	FAT1	1.406569685	0.00174647	Adhesion molecule	BrainSpLMD|2195;Eurexp|euxassay_013462|axial skeleton, lung, mandible, maxilla, mesenchyme, rest of mesenchyme, sternum, submandibular gland primordium, vibrissa;BrainSpMouseDev|13884	SFARI||Autism, No category;OMIM|600976;COSMIC||oral squamous cell, chemorefractory CLL, head and neck, pancreatic acinar cell carcinoma, pancreatic
MGE-IPC1	GCA	0.45220882	0.00177321	Calcium binding protein	BrainSpLMD|25801;Eurexp|euxassay_012524|ventricular layer	OMIM|607030
MGE-IPC1	ING1	0.624118288	0.001786991	Transcription regulatory protein	BrainSpLMD|3621	OMIM|601566;HPO|3621|Autosomal recessive inheritance, Squamous cell carcinoma
MGE-IPC1	HNRNPH2	0.671231661	0.001810385	Ribonucleoprotein	BrainSpLMD|3188	SFARI||Autism, 4 - Minimal evidence;OMIM|300610;HPO|3188|Aggressive behavior, Anxiety, Ataxia, Autistic behavior, Constipation, Developmental regression, Epicanthus, Failure to thrive, Feeding difficulties, Gait disturbance, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, High palate, Hyperlordosis, Hypertelorism, Hypertonia, Hypotelorism, Intellectual disability, Joint laxity, Micrognathia, Obsessive-compulsive behavior, Pes planus, Scoliosis, Seizures, Short palpebral fissure, Short philtrum, Short stature, Thick vermilion border, Underdeveloped nasal alae, Wide mouth, X-linked dominant inheritance
MGE-IPC1	RFWD3	0.444913066	0.001814738	Unclassified	BrainSpLMD|55159	OMIM|614151
MGE-IPC1	RBBP7	0.845416605	0.001821974	Transcription regulatory protein	BrainSpLMD|5931;Eurexp|euxassay_011608|cranium, midgut, pelvis, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|300825
MGE-IPC1	RPL6	0.302586386	0.001824297	Ribosomal subunit	BrainSpLMD|6128	OMIM|603703
MGE-IPC1	CTDSPL2	0.566330822	0.001873551	Unclassified	BrainSpLMD|51496	
MGE-IPC1	AHI1	1.134698164	0.00187937	Adapter molecule	BrainSpLMD|54806;Eurexp|euxassay_005590|brain, cervical, cervico-thoracic, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V;BrainSpMouseDev|32386	SFARI||Autism, No category;OMIM|608894;HPO|54806|Abnormal electroretinogram, Anteverted nares, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Central apnea, Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Enlarged fossa interpeduncularis, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Heterogeneous, Highly arched eyebrow, Intellectual disability, Long face, Low-set ears, Molar tooth sign on MRI, Motor delay, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nystagmus, Oculomotor apraxia, Open mouth, Pigmentary retinopathy, Ptosis, Retinal dystrophy, Stage 5 chronic kidney disease, Visual impairment, Wide nasal bridge
MGE-IPC1	DYNC1I2P1	0.419880116	0.001937529			
MGE-IPC1	ITGB3BP	0.959666542	0.001938842	Transcription regulatory protein	BrainSpLMD|23421	OMIM|605494
MGE-IPC1	PIM1	1.480102105	0.001967862	Serine/threonine kinase	BrainSpLMD|5292	OMIM|164960;COSMIC||NHL
MGE-IPC1	CH17.449C21.1	0.477713652	0.002050008			
MGE-IPC1	HADHA	0.272598178	0.002050161	Enzyme: Dehydrogenase	BrainSpLMD|3030	OMIM|600890;HPO|3030|Abnormality of the amniotic fluid, Autosomal recessive inheritance, Cardiomyopathy, Congestive heart failure, Decreased activity of 3-hydroxyacyl-CoA dehydrogenase, Dilated cardiomyopathy, Elevated hepatic transaminases, Failure to thrive, Generalized hypotonia, Generalized muscle weakness, Global developmental delay, Hepatomegaly, Hydrops fetalis, Hyperammonemia, Hypoglycemia, Hypoketotic hypoglycemia, Lactic acidosis, Muscular hypotonia, Myalgia, Myoglobinuria, Peripheral neuropathy, Pigmentary retinopathy, Prenatal maternal abnormality, Respiratory failure, Rhabdomyolysis, Small for gestational age, Sudden death
MGE-IPC1	TTC9C	1.050043873	0.002075292	Unclassified	BrainSpLMD|283237	
MGE-IPC1	HNRNPR	0.508463556	0.002086032	RNA binding protein	BrainSpLMD|10236	OMIM|607201
MGE-IPC1	SLC3A2	0.611131386	0.002115979	Membrane transport protein	BrainSpLMD|6520;Eurexp|euxassay_007752|incisor, liver, mantle layer, meninges, midgut, molar, submandibular gland primordium, thymus primordium, vibrissa	OMIM|158070
MGE-IPC1	PKM	0.691713237	0.002179049	Enzyme: Phosphotransferase	BrainSpLMD|5315	OMIM|179050
MGE-IPC1	CXXC5	0.889372613	0.002190966	DNA binding protein	BrainSpLMD|51523	OMIM|612752
MGE-IPC1	GABPB1	0.263508811	0.002198013	Transcription factor	BrainSpLMD|2553;BrainSpMouseDev|14167	OMIM|600610
MGE-IPC1	PSMB2	0.473747163	0.002198523	Ubiquitin proteasome system protein	BrainSpLMD|5690;Eurexp|euxassay_004563|nucleus pulposus	OMIM|602175
MGE-IPC1	PDZD11	0.437594119	0.002236754	Unclassified	BrainSpLMD|51248	OMIM|300632
MGE-IPC1	UBAP2	0.357999295	0.002260186	Unclassified	BrainSpLMD|55833	
MGE-IPC1	SAV1	1.025839972	0.002310124	Transcription regulatory protein	BrainSpLMD|60485	OMIM|607203
MGE-IPC1	GOT1	0.786547143	0.002371527	Enzyme: Aminotransferase	BrainSpLMD|2805;Eurexp|euxassay_018495|adrenal gland, brain, cortex, diaphragm, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, oral epithelium, spinal cord, stroma, thymus primordium, trigeminal V, vagus X, ventricle, vertebral axis muscle system	OMIM|138180
MGE-IPC1	PAPD7	1.227228585	0.002391589	DNA polymerase	BrainSpLMD|11044;Eurexp|euxassay_002954|basal plate, incisor, submandibular gland primordium, ventricular layer, vibrissa	OMIM|605198
MGE-IPC1	SPAG9	0.420248316	0.002414865	Integral membrane protein	BrainSpLMD|9043;Eurexp|euxassay_014482|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vestibulocochlear VIII	OMIM|605430
MGE-IPC1	ELF2	0.325223461	0.002431148	Transcription factor	BrainSpLMD|1998;BrainSpMouseDev|45099	
MGE-IPC1	RPS27A	0.345021297	0.002442698	Ubiquitin proteasome system protein		OMIM|191343
MGE-IPC1	FKBP2	0.827551874	0.002450864	Enzyme: Isomerase	BrainSpLMD|2286	OMIM|186946
MGE-IPC1	TRERF1	1.396886287	0.002452702	Transcription factor	BrainSpLMD|55809	OMIM|610322
MGE-IPC1	CHCHD3	0.755757734	0.002456922	Unclassified	BrainSpLMD|54927;Eurexp|euxassay_001805|lobe, orbito-sphenoid, thymus primordium	OMIM|613748
MGE-IPC1	LYPLA1	0.957958893	0.002458887	Enzyme: Phospholipase	BrainSpLMD|10434	OMIM|605599
MGE-IPC1	FBN1	0.688909	0.002465877	Extracellular matrix protein	BrainSpLMD|2200	SFARI||Autism, 3 - Suggestive evidence;OMIM|134797;HPO|2200|Abnormal cardiac ventricle morphology, Abnormal echocardiogram, Abnormality of dental morphology, Abnormality of the eyebrow, Abnormality of the iris, Abnormality of the sternum, Adducted thumb, Anteverted nares, Aortic dilatation, Aortic dissection, Aortic regurgitation, Aortic root dilatation, Aortic valve stenosis, Arachnodactyly, Ascending aortic dilation, Ascending aortic dissection, Autosomal dominant inheritance, Blindness, Blue sclerae, Brachycephaly, Brachydactyly, Broad metacarpals, Broad metatarsal, Broad palm, Broad phalanges of the hand, Broad ribs, Broad skull, Bruising susceptibility, Bulbous nose, Cardiomegaly, Cataract, Chest pain, Cognitive impairment, Cone-shaped epiphysis, Congestive heart failure, Coronary artery disease, Craniosynostosis, Crumpled ear, Cutis laxa, Cutis marmorata, Cystic medial necrosis of the aorta, Decreased muscle mass, Decreased nerve conduction velocity, Decreased testicular size, Deep philtrum, Deeply set eye, Delayed skeletal maturation, Dental crowding, Depressed nasal bridge, Descending aortic dissection, Dilatation of ascending aorta, Disproportionate tall stature, Dolichocephaly, Downslanted palpebral fissures, Dural ectasia, Ectopia lentis, Emphysema, Enlarged thorax, Exertional dyspnea, Feeding difficulties, Fifth metacarpal with ulnar notch, Flexion contracture, Full cheeks, Genu recurvatum, Glaucoma, Hammertoe, Heart murmur, Hepatomegaly, High palate, High, narrow palate, Hoarse voice, Hyperextensibility of the finger joints, Hypertelorism, Hypertension, Hypoplasia of the iris, Hypoplasia of the maxilla, Hyporeflexia, Hypoxemia, Incisional hernia, Increased arm span, Increased axial globe length, Intellectual disability, mild, Intrauterine growth retardation, Iridodonesis, Joint hypermobility, Joint stiffness, Kyphoscoliosis, Lack of skin elasticity, Left ventricular failure, Limitation of joint mobility, Lipoatrophy, Long eyelashes, Long face, Long philtrum, Long toe, Low-set ears, Lumbar hyperlordosis, Macrocephaly, Malar flattening, Mandibular prognathia, Medial rotation of the medial malleolus, Megalocornea, Micrognathia, Microspherophakia, Misalignment of teeth, Mitral annular calcification, Mitral regurgitation, Mitral stenosis, Mitral valve prolapse, Motor delay, Muscular hypotonia, Myopia, Narrow face, Narrow mouth, Narrow nose, Narrow palate, Neonatal respiratory distress, Oligohydramnios, Ovoid vertebral bodies, Paroxysmal dyspnea, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pes cavus, Pes planus, Pes valgus, Pneumothorax, Premature birth, Premature osteoarthritis, Prominent forehead, Prominent nasal bridge, Proportionate short stature, Proptosis, Protrusio acetabuli, Pulmonary arterial hypertension, Pulmonary artery dilatation, Pulmonic stenosis, Reduced subcutaneous adipose tissue, Respiratory insufficiency, Retinal detachment, Retrognathia, Round face, Scaphocephaly, Scoliosis, Severe Myopia, Severe short stature, Shallow anterior chamber, Shallow orbits, Short foot, Short long bone, Short metacarpal, Short nose, Short palm, Short phalanx of finger, Short stature, Short thumb, Small for gestational age, Small hand, Smooth philtrum, Spinal canal stenosis, Spondylolisthesis, Stiff skin, Striae distensae, Talipes calcaneovarus, Tall stature, Thick lower lip vermilion, Thickened skin, Thin bony cortex, Thin upper lip vermilion, Toe walking, Tricuspid regurgitation, Tricuspid valve prolapse, Ventricular septal defect, Wide nasal bridge
MGE-IPC1	ZNF544	1.343496579	0.002499495	DNA binding protein	BrainSpLMD|27300	
MGE-IPC1	GTPBP2	0.859519844	0.002521163	GTPase	BrainSpLMD|54676	OMIM|607434
MGE-IPC1	ATP5F1	0.540026088	0.002566985			
MGE-IPC1	CNBP	0.495384049	0.002672979	RNA binding protein	BrainSpLMD|7555	OMIM|116955;COSMIC||aneurysmal bone cyst;HPO|7555|Autosomal dominant inheritance, Cataract, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, Elevated serum creatine phosphokinase, Frontal balding, Hypogonadism, IgG deficiency, IgM deficiency, Insulin insensitivity, Iridescent posterior subcapsular cataract, Myalgia, Myotonia, Neck flexor weakness, Oligospermia, Palpitations, Proximal muscle weakness, Tachycardia, Type 2 muscle fiber atrophy
MGE-IPC1	RP11.134K13.2	2.371500953	0.002711298			
MGE-IPC1	SERF2	0.500490905	0.002742329	RNA binding protein	BrainSpLMD|10169;Eurexp|euxassay_007238|cranium	OMIM|605054
MGE-IPC1	PPP2R5D	1.126121165	0.002765165	Serine/threonine phosphatase	BrainSpLMD|5528	SFARI||Autism, 4 - Minimal evidence;OMIM|601646;HPO|5528|Autosomal dominant inheritance, Chronic diarrhea, Congenital hip dislocation, Congenital muscular torticollis, Deeply set eye, Downslanted palpebral fissures, Facial hypotonia, Generalized hypotonia, Global developmental delay, Hydrocephalus, Hypertelorism, Hypoglycemia, Intellectual disability, Macrocephaly, Myopia, Narrow forehead, Open mouth, Pyloric stenosis, Seizures, Strabismus, Ventriculomegaly
MGE-IPC1	RDX	0.337697003	0.002792302	Cytoskeletal associated protein	BrainSpLMD|5962	OMIM|179410;HPO|5962|Autosomal recessive inheritance, Infantile onset, Profound sensorineural hearing impairment
MGE-IPC1	MRE11A	0.623540484	0.002827533			
MGE-IPC1	SRRT	0.332790083	0.002838345	Unclassified	BrainSpLMD|51593	OMIM|614469
MGE-IPC1	SSNA1	0.427672807	0.002877361	Unclassified	BrainSpLMD|8636	OMIM|610882
MGE-IPC1	KLHL9	0.688184243	0.002909056	Cytoskeletal associated protein	BrainSpLMD|55958;Eurexp|euxassay_012859|mantle layer, neural retina, ventral grey horn	OMIM|611201
MGE-IPC1	ATAD2	0.804487401	0.002910009	ATPase	BrainSpLMD|29028;Eurexp|euxassay_012771|ventricular layer	OMIM|611941
MGE-IPC1	PET100	0.564991699	0.002951261			OMIM|614770;HPO|100131801|Aminoaciduria, Anemia, Ataxia, Autosomal recessive inheritance, Cytochrome C oxidase-negative muscle fibers, Decreased liver function, Exercise intolerance, Exertional dyspnea, Failure to thrive, Generalized hypotonia, Global developmental delay, Glycosuria, Hepatomegaly, Heterogeneous, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, Increased serum lactate, Intellectual disability, Lactic acidosis, Mitochondrial inheritance, Motor delay, Optic atrophy, Pigmentary retinopathy, Proteinuria, Ptosis, Renal Fanconi syndrome, Renal tubular dysfunction, Respiratory distress, Respiratory insufficiency due to muscle weakness, Seizures, Sensorineural hearing impairment
MGE-IPC1	RHOBTB3	0.312789075	0.002960729	GTPase	BrainSpLMD|22836;Eurexp|euxassay_004272|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system	OMIM|607353
MGE-IPC1	VEZF1	0.342192299	0.003037042	Transcription factor	BrainSpLMD|7716	OMIM|606747
MGE-IPC1	SS18	0.275326741	0.003038416	Transcription regulatory protein	BrainSpLMD|6760	OMIM|600192;COSMIC||synovial sarcoma
MGE-IPC1	SRGAP2B	1.000130675	0.003169767			OMIM|614703
MGE-IPC1	ARL4A	0.821026405	0.003185635	GTPase	BrainSpLMD|10124;Eurexp|euxassay_007257|lung, mandible, mantle layer, maxilla, meninges, oesophagus, urethra, vertebral axis muscle system	OMIM|604786
MGE-IPC1	NONO	0.355149559	0.003230184	RNA binding protein	BrainSpLMD|4841;Eurexp|euxassay_006509|embryo	OMIM|300084;COSMIC||papillary renal;HPO|4841|Aggressive behavior, Ataxia, Dental crowding, Frontal bossing, Generalized hypotonia, Hallux valgus, High, narrow palate, Increased head circumference, Intellectual disability, Joint laxity, Kyphosis, Left ventricular noncompaction, Long face, Malar flattening, Mild global developmental delay, Motor delay, Myopia, Narrow mouth, Nasal speech, Neonatal hypotonia, Open mouth, Patent ductus arteriosus, Patent foramen ovale, Perseveration, Pes planus, Prominent nose, Right ventricular hypertrophy, Scoliosis, Seizures, Slender build, Strabismus, Thickened calvaria, Tremor, Upslanted palpebral fissure, Ventricular septal defect, X-linked recessive inheritance
MGE-IPC1	MBIP	0.538102293	0.003251335	Unclassified	BrainSpLMD|51562;Eurexp|euxassay_005376|lung	OMIM|609431
MGE-IPC1	PRR13	1.261942436	0.00328836	Unclassified	BrainSpLMD|54458;Eurexp|euxassay_008170|embryo	OMIM|610459
MGE-IPC1	PLXNC1	1.239190045	0.003297574	Integral membrane protein	BrainSpLMD|10154;BrainSpMouseDev|34001	OMIM|604259
MGE-IPC1	RBM8B	0.592664861	0.003361063			
MGE-IPC1	DHX8	1.032520645	0.003372968	RNA binding protein	BrainSpLMD|1659	OMIM|600396
MGE-IPC1	SRSF3	0.363421329	0.003382394	RNA binding protein	BrainSpLMD|6428	OMIM|603364;COSMIC||follicular lymphoma
MGE-IPC1	SNX3	0.283540225	0.003551737	Transport/cargo protein	BrainSpLMD|8724;Eurexp|euxassay_015289|nucleus pulposus, thymus primordium, ventricular layer	OMIM|605930
MGE-IPC1	TDP1	1.332027125	0.003620394	Enzyme: Phosphodiesterase	BrainSpLMD|55775	OMIM|607198;HPO|55775|Ataxia, Autosomal recessive inheritance, Distal amyotrophy, Peripheral axonal neuropathy, Pes cavus, Steppage gait
MGE-IPC1	NOM1	0.30234103	0.003630375	Unclassified	Eurexp|euxassay_016438|axial skeleton, bladder, dorsal root ganglion, femur, fibula, humerus, pelvic girdle, rib, tibia, ventral grey horn	OMIM|611269
MGE-IPC1	TRA2B	0.294333077	0.003638719	RNA binding protein	BrainSpLMD|6434	OMIM|602719
MGE-IPC1	TIMM10	0.505015606	0.003710977	Chaperone	BrainSpLMD|26519	OMIM|602251
MGE-IPC1	CCT7	0.59550074	0.003733534	Chaperone	BrainSpLMD|10574	OMIM|605140
MGE-IPC1	RPL12	0.284927826	0.003735354	Ribosomal subunit		OMIM|180475
MGE-IPC1	RBM27	0.402206414	0.003814361	RNA binding protein	BrainSpLMD|54439;Eurexp|euxassay_013704|olfactory, vomeronasal organ	SFARI||Autism, No category
MGE-IPC1	DDX10	0.837941471	0.003827945	RNA binding protein	BrainSpLMD|1662	OMIM|601235;COSMIC||AML*
MGE-IPC1	MBNL2	0.93227783	0.003871855	RNA binding protein	BrainSpLMD|10150;Eurexp|euxassay_005986|cerebral cortex, dorsal root ganglion, embryo, forebrain, glossopharyngeal IX, lung, midbrain, oesophagus, trigeminal V, vagus X	OMIM|607327
MGE-IPC1	JAM2	1.136975813	0.003882695	Adhesion molecule	BrainSpLMD|58494	OMIM|606870
MGE-IPC1	BSG	1.069464293	0.003926502	Cell surface receptor	BrainSpLMD|682	OMIM|109480
MGE-IPC1	TAB2	0.803375531	0.003927431	Adapter molecule	BrainSpLMD|23118	OMIM|605101;HPO|23118|Aortic dilatation, Aortic regurgitation, Aortic valve stenosis, Atrial fibrillation, Autosomal dominant inheritance, Bicuspid aortic valve, Myxomatous mitral valve degeneration, Subvalvular aortic stenosis, Tetralogy of Fallot, Ventricular septal defect
MGE-IPC1	POC5	0.58353654	0.003985681	Unclassified	BrainSpLMD|134359;Eurexp|euxassay_001514|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	
MGE-IPC1	SNAPC1	0.574666597	0.004001933	Transcription regulatory protein	BrainSpLMD|6617	OMIM|600591
MGE-IPC1	FNIP1	0.552939672	0.004018175	Unclassified		OMIM|610594
MGE-IPC1	HNRNPA1P35	0.466287032	0.004223502			
MGE-IPC1	ZNF438	0.909551652	0.004229539	DNA binding protein	BrainSpLMD|220929	
MGE-IPC1	R3HDM1	0.597555672	0.004356694	Unclassified	BrainSpLMD|23518	
MGE-IPC1	KHDRBS1	0.613176977	0.004381857	RNA binding protein	BrainSpLMD|10657	OMIM|602489
MGE-IPC1	CCAR1	0.803826784	0.004384622	Cell cycle control protein	BrainSpLMD|55749	OMIM|612569
MGE-IPC1	SMARCA1	0.250521206	0.004473769	Transcription regulatory protein	BrainSpLMD|6594;Eurexp|euxassay_015278|floorplate, hindgut, midgut, stomach	OMIM|300012
MGE-IPC1	HIST1H1E	0.765069561	0.004489375	DNA binding protein	BrainSpLMD|3008;Eurexp|euxassay_005923|embryo	OMIM|142220;HPO|3008|Accelerated skeletal maturation, Amblyopia, Astigmatism, Autosomal dominant inheritance, Camptodactyly, Full cheeks, Global developmental delay, Hypertonia, Intellectual disability, Kyphoscoliosis, Macrocephaly, Neonatal hypotonia, Nevus, Strabismus, Talipes equinovarus, Telecanthus
MGE-IPC1	PPM1G	0.34756129	0.004552041	Serine/threonine phosphatase	BrainSpLMD|5496	OMIM|605119
MGE-IPC1	FAM160B1	1.019336797	0.004643494	Unclassified	BrainSpLMD|57700	OMIM|617312
MGE-IPC1	GKAP1	0.506080038	0.004675338	Anchor protein	BrainSpLMD|80318	OMIM|611356
MGE-IPC1	KDELR1	0.915511509	0.004684332	Unclassified	BrainSpLMD|10945	OMIM|131235
MGE-IPC1	TGS1	0.510315263	0.00482112	Transcription regulatory protein	BrainSpLMD|96764	OMIM|606461
MGE-IPC1	PON2	0.42978567	0.004835499	Enzyme: Esterase	BrainSpLMD|5445	OMIM|602447;HPO|5445|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
MGE-IPC1	MED21	0.512882061	0.004995381	Transcription regulatory protein	BrainSpLMD|9412	OMIM|603800
MGE-IPC1	ZFX	0.534458194	0.005089703	Transcription factor	BrainSpLMD|7543	OMIM|314980
MGE-IPC1	PHF6	0.371892888	0.005140515	Transcription regulatory protein	BrainSpLMD|84295;Eurexp|euxassay_005159|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, eyelid, glossopharyngeal IX, limb, liver, lung, metanephros, naris, olfactory, penis, respiratory, retina, spinal cord, submandibular gland primordium, tail, thoracic, thymus primordium, trachea, trigeminal V, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|300414;COSMIC||ETP ALL, Boerjeson-Forssman-Lehmann syndrome;HPO|84295|Blepharophimosis, Broad foot, Camptodactyly of toe, Cervical spinal canal stenosis, Coarse facial features, Cryptorchidism, Decreased testicular size, Deeply set eye, Delayed puberty, EEG abnormality, Feeding difficulties in infancy, Generalized hypotonia, Gynecomastia, Hypogonadism, Hypoplasia of penis, Hypoplasia of the prostate, Intellectual disability, Intellectual disability, severe, Kyphosis, Large earlobe, Macrotia, Microcephaly, Micropenis, Muscular hypotonia, Nystagmus, Obesity, Prominent supraorbital ridges, Ptosis, Scheuermann-like vertebral changes, Scoliosis, Scrotal hypoplasia, Seizures, Short stature, Short toe, Shortening of all distal phalanges of the fingers, Shortening of all middle phalanges of the fingers, Sparse hair, Tapered finger, Thick eyebrow, Thickened calvaria, Truncal obesity, Visual impairment, Widely spaced toes, X-linked recessive inheritance
MGE-IPC1	CDK19	0.678500856	0.005145046	Serine/threonine kinase	BrainSpLMD|23097	OMIM|614720
MGE-IPC1	C12orf57	0.534993831	0.005147906	Unclassified	BrainSpLMD|113246	SFARI||Autism, No category;OMIM|615140;HPO|113246|Agenesis of corpus callosum, Aortic dilatation, Aortic regurgitation, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Brachydactyly, Chorioretinal coloboma, Coarse facial features, Convex nasal ridge, Dental crowding, Dolichocephaly, Downslanted palpebral fissures, Ectopia lentis, Frontal bossing, Generalized hypotonia, Genu varum, Global developmental delay, Highly arched eyebrow, Hip dislocation, Hypertelorism, Hypoplasia of teeth, Infantile onset, Intellectual disability, Intellectual disability, mild, Iris coloboma, Long face, Long philtrum, Lop ear, Low-set ears, Macrocephaly, Micrognathia, Myopia, Pes planus, Short 2nd toe, Short toe, Talipes equinovarus, Ventriculomegaly
MGE-IPC1	EIF3F	0.498137685	0.005256185	Translation regulatory protein		OMIM|603914
MGE-IPC1	COX8A	0.452578663	0.005262406	Enzyme: Oxidoreductase	BrainSpLMD|1351	OMIM|123870
MGE-IPC1	RNF181	0.846274386	0.005482715	Unclassified	BrainSpLMD|51255;Eurexp|euxassay_002062|adrenal gland, brain, facial VII, lobe, olfactory, spinal cord, testis, thymus primordium, trigeminal V	OMIM|612490
MGE-IPC1	PTPRE	0.955479998	0.005531906	Receptor tyrosine phosphatase	BrainSpLMD|5791	OMIM|600926
MGE-IPC1	MDH1	0.67323438	0.005594437	Enzyme: Dehydrogenase	BrainSpLMD|4190	OMIM|154200
MGE-IPC1	TOPORS	0.732108883	0.005614509	Ubiquitin proteasome system protein	BrainSpLMD|10210	OMIM|609507;HPO|10210|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Attenuation of retinal blood vessels, Atypical scarring of skin, Autosomal dominant inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Retinal pigment epithelial atrophy, Rod-cone dystrophy, Sensorineural hearing impairment, Visual field defect, Wide nasal bridge
MGE-IPC1	ZCRB1	0.560819419	0.005721949	RNA binding protein	BrainSpLMD|85437	OMIM|610750
MGE-IPC1	GAPDH	0.448082241	0.005822236	Enzyme: Dehydrogenase		OMIM|138400
MGE-IPC1	SYNCRIP	0.449069472	0.005869205	RNA binding protein	BrainSpLMD|10492;Eurexp|euxassay_014187|cortex, molar, submandibular gland primordium, ventricular layer	OMIM|616686
MGE-IPC1	USP22	0.261947653	0.005906003	Unclassified	Eurexp|euxassay_000296|alar plate, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral wall, lens, medulla oblongata, meninges, metencephalon, neural retina, telencephalon, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|612116
MGE-IPC1	F2R	1.183687368	0.005966526	G protein coupled receptor	BrainSpLMD|2149;Eurexp|euxassay_009165|mesenchyme	OMIM|187930
MGE-IPC1	GTPBP1	1.522681356	0.006000765	GTPase	BrainSpLMD|9567	OMIM|602245
MGE-IPC1	TSHZ1	0.54014848	0.006009875	Transcription regulatory protein	BrainSpLMD|10194;Eurexp|euxassay_010168|interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, mantle layer, mesenchyme, midgut, olfactory, penis, pharyngo-tympanic tube, stomach;BrainSpMouseDev|74951	OMIM|614427;HPO|10194|Atresia of the external auditory canal, Autosomal dominant inheritance, Conductive hearing impairment, Hyposmia
MGE-IPC1	LYRM2	0.285153777	0.006095753	Enzyme: Oxidoreductase	BrainSpLMD|57226	
MGE-IPC1	C16orf87	0.389669943	0.006191663	Unclassified	BrainSpLMD|388272;Eurexp|euxassay_000571|Meckel's cartilage, axial skeleton, head mesenchyme, incisor, lung, oesophagus, otic capsule, turbinate bones, urethra, vertebral axis muscle system	
MGE-IPC1	TOB1	0.387646048	0.006226335	Adapter molecule	BrainSpLMD|10140	OMIM|605523
MGE-IPC1	ZNF24	0.569997603	0.006233275	Transcription regulatory protein	BrainSpLMD|7572;BrainSpMouseDev|37620	OMIM|194534
MGE-IPC1	DESI2	1.720261884	0.006469464	Unclassified	BrainSpLMD|51029	OMIM|614638
MGE-IPC1	NUP205	1.07803012	0.006542548	Unclassified		OMIM|614352;HPO|23165|Autosomal recessive inheritance, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome
MGE-IPC1	ASRGL1	0.35627766	0.00662476	Unclassified	BrainSpLMD|80150;Eurexp|euxassay_000035|central nervous system, corpus striatum, ventricular layer	OMIM|609212
MGE-IPC1	ZNF43	0.637718351	0.006666745	DNA binding protein	BrainSpLMD|7594	OMIM|603972
MGE-IPC1	DENND1B	0.353196615	0.006709155	Unclassified	BrainSpLMD|163486	OMIM|613292
MGE-IPC1	PAIP2	0.541645278	0.006768498	Translation regulatory protein	BrainSpLMD|51247;Eurexp|euxassay_006511|embryo	OMIM|605604
MGE-IPC1	TRMT112	0.626037052	0.006820228	Unclassified	BrainSpLMD|51504;Eurexp|euxassay_005921|embryo	
MGE-IPC1	RPS3	0.299759956	0.006841148	Ribosomal subunit		OMIM|600454
MGE-IPC1	TERF1	0.490101321	0.006881173	DNA binding protein	BrainSpLMD|7013	OMIM|600951
MGE-IPC1	FAM53C	0.56284896	0.0069091	Unclassified	BrainSpLMD|51307	OMIM|609372
MGE-IPC1	MNS1	0.271766842	0.007119273	Structural protein	BrainSpLMD|55329	OMIM|610766
MGE-IPC1	SNAPC3	0.771771906	0.007121507	Transcription factor	BrainSpLMD|6619;Eurexp|euxassay_009132|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602348
MGE-IPC1	SLITRK1	0.735555101	0.007166035	Integral membrane protein	BrainSpLMD|114798;Eurexp|euxassay_012158|axial skeleton, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, rib, skeletal muscle, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|52805	OMIM|609678;HPO|114798|Aggressive behavior, Alopecia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Echolalia, Hair-pulling, Motor tics, Multifactorial inheritance, Obsessive-compulsive behavior, Phonic tics, Self-mutilation, Sleep disturbance
MGE-IPC1	FGFR1OP2	0.974527651	0.007217642	Unclassified	BrainSpLMD|26127;Eurexp|euxassay_012453|thymus primordium	OMIM|608858
MGE-IPC1	TRAPPC13	0.750367146	0.007238868	Unclassified	BrainSpLMD|80006	
MGE-IPC1	AHCY	0.875457319	0.007528755	Enzyme: Hydrolase	BrainSpLMD|191;Eurexp|euxassay_008402|embryo	OMIM|180960;HPO|191|Abnormal facial shape, Abnormality of the dentition, Autosomal recessive inheritance, Cardiomyopathy, Failure to thrive, Global developmental delay, Hypermethioninemia, Intellectual disability, Motor delay
MGE-IPC1	DAXX	0.979533398	0.007558824	Adapter molecule	BrainSpLMD|1616	OMIM|603186;COSMIC||pancreatic neuroendocrine tumour, paediatric glioblastoma
MGE-IPC1	AFG3L2	1.338915477	0.007570401	ATPase	BrainSpLMD|10939	OMIM|604581;HPO|10939|Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Cerebellar atrophy, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Dysphagia, Dystonia, Gait ataxia, Gaze-evoked nystagmus, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Increased intramyocellular lipid droplets, Infantile onset, Limb ataxia, Lower limb hyperreflexia, Muscle weakness, Myoclonus, Oculomotor apraxia, Ophthalmoparesis, Progressive, Ptosis, Sensorimotor neuropathy, Skeletal muscle atrophy, Slow progression, Slow saccadic eye movements, Spastic ataxia, Spastic paraparesis, Spasticity, Variable expressivity
MGE-IPC1	SNRPGP2	0.522116846	0.007622454			
MGE-IPC1	RPL14P1	0.339646018	0.007742619			
MGE-IPC1	AKIRIN2	0.405830265	0.007950453	Unclassified	BrainSpLMD|55122	OMIM|615165
MGE-IPC1	OTUD4	0.680828064	0.007964686	Unclassified	BrainSpLMD|54726	OMIM|611744
MGE-IPC1	LSM1	0.672039581	0.007981058	RNA binding protein	BrainSpLMD|27257	OMIM|607281
MGE-IPC1	CPSF3	0.526827862	0.008044639	RNA binding protein	BrainSpLMD|51692	OMIM|606029
MGE-IPC1	CHD1L	0.472446429	0.008073209	DNA binding protein	BrainSpLMD|9557	OMIM|613039
MGE-IPC1	LSM6	0.420427533	0.008118866	RNA binding protein	BrainSpLMD|11157	OMIM|607286
MGE-IPC1	TPRKB	0.331556118	0.008186931	Unclassified	BrainSpLMD|51002	OMIM|608680
MGE-IPC1	RP11.544A12.4	0.668141221	0.00830968			
MGE-IPC1	TUBG1	1.142606766	0.008396849	Cytoskeletal protein	BrainSpLMD|7283	OMIM|191135;HPO|7283|Autosomal dominant inheritance, Cortical dysplasia, Global developmental delay, Microcephaly, Seizures, Variable expressivity
MGE-IPC1	EMC4	0.353324997	0.008453739	Unclassified	BrainSpLMD|51234	OMIM|616245
MGE-IPC1	WWTR1	0.803928222	0.00848855	Transcription regulatory protein	BrainSpLMD|25937;Eurexp|euxassay_000592|limb, tail, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|61234	OMIM|607392;COSMIC||epithelioid haemangioendothelioma
MGE-IPC1	DMXL1	0.342288542	0.008590889	Unclassified	BrainSpLMD|1657	OMIM|605671
MGE-IPC1	GPX4	0.753768219	0.008620455	Enzyme: Peroxidase	BrainSpLMD|2879	OMIM|138322;HPO|2879|11 pairs of ribs, Abnormality of the ribs, Abnormality of the scapula, Arrhythmia, Atrial septal defect, Atrioventricular block, Autosomal recessive inheritance, Brachydactyly, Cardiorespiratory arrest, Cerebellar hypoplasia, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped metacarpal epiphyses, Cupped ribs, Delayed epiphyseal ossification, Delayed skeletal maturation, Depressed nasal bridge, Flared iliac wings, Flat acetabular roof, Focal lissencephaly, Generalized hypotonia, Iliac crest serration, Irregular tarsal bones, Large posterior fontanelle, Long fibula, Metaphyseal chondrodysplasia, Metaphyseal cupping, Metaphyseal irregularity, Muscular hypotonia, Narrow chest, Narrow greater sacrosciatic notches, Platyspondyly, Porencephalic cyst, Posteriorly rotated ears, Redundant skin, Rhizomelia, Rhizomelic arm shortening, Short finger, Short long bone, Short metacarpal, Short neck, Short palm, Short phalanx of finger, Short ribs, Short toe, Spondylometaphyseal dysplasia, Talipes equinovarus, Turricephaly, Widened sacrosciatic notch
MGE-IPC1	ILF3.AS1	0.91920044	0.00865382			
MGE-IPC1	FADS1	0.284161368	0.008748998	Enzyme: Oxidoreductase	BrainSpLMD|3992;Eurexp|euxassay_000686|adrenal gland, testis	OMIM|606148
MGE-IPC1	PSMB3	0.262134813	0.008804622	Ubiquitin proteasome system protein	BrainSpLMD|5691;Eurexp|euxassay_003314|dorsal root ganglion, facial VII, glomeruli, glossopharyngeal IX, incisor, molar, orbito-sphenoid, pancreas, submandibular gland primordium, thymus primordium, trigeminal V, vagus X, vibrissa	OMIM|602176
MGE-IPC1	TGIF2	1.311928967	0.008857609	Transcription factor	BrainSpLMD|60436;Eurexp|euxassay_019508|axial skeleton, cornea, epithelium, incisor, lung, marginal layer, metanephros, molar, neural retina, oesophagus, olfactory, phalanx, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|86790	OMIM|607294
MGE-IPC1	EIF5A	0.322340658	0.008939406	Translation Factor	BrainSpLMD|1984	OMIM|600187
MGE-IPC1	THOC7	0.957775379	0.008980503	Unclassified	BrainSpLMD|80145;Eurexp|euxassay_012036|submandibular gland primordium, ventricular layer, vibrissa	OMIM|611965
MGE-IPC1	TOP1	0.452046184	0.009003897	Enzyme: Topoisomerase	BrainSpLMD|7150;BrainSpMouseDev|21726	SFARI||Autism, 5 - Hypothesized but untested;OMIM|126420;COSMIC||AML*
MGE-IPC1	LLPH	1.183834659	0.009013757	Unclassified	BrainSpLMD|84298	OMIM|616998
MGE-IPC1	NLGN4X	0.817060284	0.009014561	Adhesion molecule;Integral membrane protein	BrainSpLMD|57502	SFARI||Autism, 3 - Suggestive evidence;OMIM|300427;HPO|57502|Autism, Childhood onset, Delayed speech and language development, EEG abnormality, Heterogeneous, Impaired use of nonverbal behaviors, Increased serum serotonin, Inflexible adherence to routines or rituals, Intellectual disability, Lack of peer relationships, Lack of spontaneous play, Multifactorial inheritance, Restrictive behavior, Seizures, Sporadic, Stereotypy, X-linked inheritance
MGE-IPC1	MSN	1.022413166	0.009187592	Cytoskeletal protein	BrainSpLMD|4478;Eurexp|euxassay_009365|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, organ system, renal/urinary system, reproductive system, respiratory system, sensory organ, tail, vertebral axis muscle system	SFARI||Autism, 5 - Hypothesized but untested;OMIM|309845;COSMIC||ALCL;HPO|4478|Decreased antibody level in blood, Eczema, Lymphopenia, Recurrent respiratory infections, Recurrent urinary tract infections, X-linked recessive inheritance
MGE-IPC1	NET1	1.015954515	0.009189729	Guanine nucleotide exchange factor	BrainSpLMD|10276	OMIM|606450
MGE-IPC1	HDAC9	0.390558611	0.009219322	Transcription regulatory protein	BrainSpLMD|9734	OMIM|606543
MGE-IPC1	OXA1L	0.513400423	0.009348686	Enzyme: Oxidase	BrainSpLMD|5018	OMIM|601066
MGE-IPC1	PRIMPOL	0.473968653	0.009454433	Unclassified	BrainSpLMD|201973	OMIM|615421;HPO|201973|Autosomal dominant inheritance, Myopia, Reduced visual acuity, Visual impairment
MGE-IPC1	DKC1	0.541432635	0.009506424	RNA binding protein	BrainSpLMD|1736	OMIM|300126;HPO|1736|Abnormal blistering of the skin, Abnormality of coagulation, Abnormality of female internal genitalia, Abnormality of neutrophils, Abnormality of the fingernails, Abnormality of the pharynx, Acute myeloid leukemia, Alopecia, Anal mucosal leukoplakia, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Blepharitis, Bone marrow hypocellularity, Carious teeth, Cataract, Cellular immunodeficiency, Cerebellar hypoplasia, Cerebral cortical atrophy, Cirrhosis, Conjunctivitis, Cryptorchidism, Decreased testicular size, Dermal atrophy, Esophageal stenosis, Esophageal stricture, Excessive wrinkled skin, Failure to thrive, Generalized hyperpigmentation, Generalized hypopigmentation of hair, Global developmental delay, Hodgkin lymphoma, Horseshoe kidney, Hyperhidrosis, Hypermelanotic macule, Hyperpigmentation of the skin, Hypertonia, Hypodontia, Hypopigmented skin patches, Hypospadias, Immunodeficiency, Increased lacrimation, Intellectual disability, Intrauterine growth retardation, Leukopenia, Malabsorption, Microcephaly, Myelodysplasia, Nail dystrophy, Optic atrophy, Oral leukoplakia, Osteoporosis, Pancytopenia, Periodontitis, Phimosis, Premature graying of hair, Premature loss of teeth, Pterygium of nails, Pulmonary fibrosis, Recurrent fractures, Recurrent respiratory infections, Restrictive ventilatory defect, Reticulated skin pigmentation, Ridged nail, Rough bone trabeculation, Short stature, Skin ulcer, Sparse eyelashes, Sparse hair, Sparse scalp hair, Split nail, Squamous cell carcinoma, Strabismus, Taurodontia, Telangiectasia of the skin, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis, Ventriculomegaly, X-linked recessive inheritance
MGE-IPC1	DECR1	0.631833257	0.00963232	Enzyme: Reductase	BrainSpLMD|1666	OMIM|222745
MGE-IPC1	LARP1B	0.451591884	0.009640913	RNA binding protein	BrainSpLMD|55132	
MGE-IPC1	OSER1.AS1	1.486642175	0.009841119			
MGE-IPC1	IVD	0.618913722	0.009898326	Enzyme: Dehydrogenase	BrainSpLMD|3712	OMIM|607036;HPO|3712|Autosomal recessive inheritance, Bone marrow hypocellularity, Coma, Dehydration, Global developmental delay, Hyperglycinuria, Ketoacidosis, Lethargy, Leukopenia, Metabolic acidosis, Pancytopenia, Seizures, Thrombocytopenia, Vomiting
MGE-IPC1	PRPF38A	0.305100982	0.009912405	Unclassified	BrainSpLMD|84950;Eurexp|euxassay_001967|incisor, submandibular gland primordium, vibrissa	OMIM|617031
MGE-IPC1	RPL36AL	0.556801451	0.009956804	Ribosomal subunit	BrainSpLMD|6166	OMIM|180469
MGE-IPC2	E2F2	2.806555627	0	Transcription factor	BrainSpLMD|1870;BrainSpMouseDev|88998	OMIM|600426
MGE-IPC2	BRCA1	2.676340655	0	Transcription regulatory protein	BrainSpLMD|672;Eurexp|euxassay_019531|incisor, liver, lung, marginal layer, metanephros, molar, olfactory, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|11975	OMIM|113705;COSMIC||ovarian, breast, ovarian;HPO|672|Abdominal distention, Abdominal pain, Abnormality of the fallopian tube, Autosomal dominant inheritance, Breast carcinoma, Constipation, Heterogeneous, Nausea and vomiting, Neoplasm, Ovarian neoplasm, Peritonitis, Primary peritoneal carcinoma
MGE-IPC2	MCM10	2.617485828	0	DNA binding protein	BrainSpLMD|55388	OMIM|609357
MGE-IPC2	CASC5	2.584157944	0			
MGE-IPC2	KIF15	2.410624456	0	Cell cycle control protein	BrainSpLMD|56992	OMIM|617569
MGE-IPC2	NCAPG2	2.332856417	0	Unclassified	BrainSpLMD|54892;Eurexp|euxassay_002384|axial muscle, epithelium, lobe, olfactory, ventricular layer	OMIM|608532
MGE-IPC2	SPAG5	2.315310954	0	Cytoskeletal associated protein	BrainSpLMD|10615	OMIM|615562
MGE-IPC2	TYMS	2.303399832	0	Enzyme: Ligase	BrainSpLMD|7298;Eurexp|euxassay_008886|cardiovascular system, cavities and their linings, gland, integumental system, limb, marginal layer, mesenchyme, sensory organ, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|188350
MGE-IPC2	FBXO5	2.292748434	0	Cell cycle control protein	BrainSpLMD|26271;Eurexp|euxassay_012335|marginal layer, ventricular layer	OMIM|606013
MGE-IPC2	SPC25	2.292156662	0	Cell cycle control protein	BrainSpLMD|57405;Eurexp|euxassay_000451|mantle layer, medulla oblongata, ventral grey horn, ventricular layer	OMIM|609395
MGE-IPC2	RRM2	2.289366121	0	Cell cycle control protein	BrainSpLMD|6241;Eurexp|euxassay_004733|footplate, handplate, hindbrain, leg, liver, lung, mantle layer, mesenchyme, metanephros, olfactory, retina, spinal cord, tail, ventricular layer, vibrissa	OMIM|180390
MGE-IPC2	CKAP2L	2.280156582	0	Unclassified	BrainSpLMD|150468;Eurexp|euxassay_002011|thymus primordium, ventricular layer	OMIM|616174;HPO|150468|2-4 toe syndactyly, Aphasia, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Broad forehead, Cerebellar atrophy, Clinodactyly of the 5th finger, Cryptorchidism, Decreased body weight, Delayed skeletal maturation, Dysphasia, Dystonia, Echolalia, Finger syndactyly, Frontal bossing, Frontal hirsutism, Global developmental delay, Intellectual disability, Intrauterine growth retardation, Low hanging columella, Microcephaly, Microdontia, Mutism, Optic atrophy, Postnatal growth retardation, Prominent forehead, Prominent nasal bridge, Proptosis, Seizures, Severe short stature, Short philtrum, Single transverse palmar crease, Specific learning disability, Thin vermilion border, Underdeveloped nasal alae, Ventricular septal defect, Visual impairment, Wide nasal bridge, Wide nose
MGE-IPC2	PBK	2.242019221	0	Serine/threonine kinase	BrainSpLMD|55872;Eurexp|euxassay_018747|adrenal gland, cervical, cervico-thoracic, incisor, liver, mandible, marginal layer, maxilla, metanephros, molar, naris, neural retina, olfactory, pancreas, sublingual gland primordium, thoracic, thymus primordium, thyroid, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|611210
MGE-IPC2	KIAA1524	2.222132347	0			
MGE-IPC2	ESCO2	2.209700369	0	Unclassified		OMIM|609353;HPO|157570|Abnormality of cardiovascular system morphology, Abnormality of the metacarpal bones, Absent earlobe, Absent radius, Accessory spleen, Ankle contracture, Aortic valve stenosis, Aplasia of the ulna, Aplasia/Hypoplasia of the thumb, Atrial septal defect, Autosomal recessive inheritance, Bicornuate uterus, Biliary tract abnormality, Blue sclerae, Bowing of the long bones, Brachycephaly, Brachydactyly, Cafe-au-lait spot, Cataract, Cleft eyelid, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Clitoral hypertrophy, Complete duplication of thumb phalanx, Cranial nerve paralysis, Craniosynostosis, Cryptorchidism, Cystic hygroma, Downslanted palpebral fissures, Elbow flexion contracture, Enlarged labia minora, External ear malformation, Fair hair, Frontal encephalocele, Global developmental delay, Hand oligodactyly, High palate, Hip contracture, Horseshoe kidney, Hydrocephalus, Hypertelorism, Hypoplasia of the radius, Hypospadias, Intellectual disability, Intrauterine growth retardation, Knee flexion contracture, Long penis, Low-set ears, Malar flattening, Mesomelic arm shortening, Microcephaly, Micrognathia, Microphthalmia, Midface capillary hemangioma, Narrow naris, Opacification of the corneal stroma, Patent ductus arteriosus, Phocomelia, Polycystic kidney dysplasia, Polyhydramnios, Posteriorly rotated ears, Postnatal growth retardation, Premature birth, Premature separation of centromeric heterochromatin, Proptosis, Proximal placement of thumb, Radial deviation of finger, Radioulnar synostosis, Seizures, Severe intrauterine growth retardation, Shallow orbits, Short neck, Short stature, Short thumb, Sparse hair, Syndactyly, Talipes equinovalgus, Tetraphocomelia, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Ventricular septal defect, Wide nasal bridge, Wormian bones, Wrist flexion contracture
MGE-IPC2	NCAPG	2.202777147	0	DNA binding protein	BrainSpLMD|64151;Eurexp|euxassay_013748|epithelium, incisor, left lung, liver, metanephros, molar, olfactory, right lung, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|606280
MGE-IPC2	ATAD2	2.188150004	0	ATPase	BrainSpLMD|29028;Eurexp|euxassay_012771|ventricular layer	OMIM|611941
MGE-IPC2	MKI67	2.174346735	0	Cell cycle control protein	BrainSpLMD|4288	OMIM|176741
MGE-IPC2	GTSE1	2.173759172	0	Unclassified	BrainSpLMD|51512	OMIM|607477
MGE-IPC2	HIST1H4C	2.173265714	0	DNA binding protein	BrainSpLMD|8364	OMIM|602827
MGE-IPC2	POLQ	2.169146812	0	DNA polymerase	BrainSpLMD|10721	OMIM|604419;COSMIC||oral SCC, breast cancer
MGE-IPC2	ARHGAP11A	2.138683417	0	GTPase activating protein	BrainSpLMD|9824;Eurexp|euxassay_018145|excretory component, hindgut, incisor, mantle layer, marginal layer, meninges, midgut, molar, neural retina, olfactory, stomach, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|610589
MGE-IPC2	NUF2	2.131800174	0	Cytoskeletal associated protein;Cell cycle control protein	BrainSpLMD|83540	OMIM|611772
MGE-IPC2	CLSPN	2.131493571	0	Cell cycle control protein	BrainSpLMD|63967;Eurexp|euxassay_004199|ventricular layer	OMIM|605434
MGE-IPC2	TOP2A	2.108687948	0	Enzyme: Topoisomerase	BrainSpLMD|7153	OMIM|126430;HPO|7153|Elevated urinary catecholamines, Neoplasm of the nervous system
MGE-IPC2	KIF11	2.10099618	0	Motor protein	BrainSpLMD|3832	OMIM|148760;HPO|3832|Abnormal toenail morphology, Abnormality of retinal pigmentation, Anteverted nares, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Broad nasal tip, Chorioretinal dysplasia, Cortical gyral simplification, Deep philtrum, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Flat occiput, Global developmental delay, Intellectual disability, Intellectual disability, mild, Leukonychia, Long philtrum, Lymphedema, Mandibular prognathia, Melanonychia, Microcephaly, Muscular hypotonia, Myopia, Protruding ear, Sloping forehead, Specific learning disability, Thick lower lip vermilion, Thin upper lip vermilion
MGE-IPC2	MIS18BP1	2.08632121	0	Transcription regulatory protein	BrainSpLMD|55320;Eurexp|euxassay_004198|ventricular layer	
MGE-IPC2	SGOL1	2.081026663	0			
MGE-IPC2	CCNE2	2.055543496	0	Cell cycle control protein	BrainSpLMD|9134	OMIM|603775
MGE-IPC2	FAM111A	2.048629267	0	Unclassified	BrainSpLMD|63901;Eurexp|euxassay_011616|lobe, mandible, maxilla, orbito-sphenoid, thymus primordium, thyroid, ventricular layer	OMIM|615292;HPO|63901|Abnormality of the medullary cavity of the long bones, Anemia, Aniridia, Ankyloglossia, Ascites, Autosomal dominant inheritance, Basal ganglia calcification, Brachydactyly, Congenital cataract, Delayed closure of the anterior fontanelle, Failure to thrive, Flared metaphysis, Global developmental delay, Hydrocephalus, Hypermetropia, Hypocalcemia, Hypoparathyroidism, Hypoplastic spleen, Increased bone mineral density, Macrocephaly, Micropenis, Microphthalmia, Papilledema, Prominent forehead, Retinal calcification, Seizures, Severe short stature, Short stature, Slender long bone, Small for gestational age, Thickened cortex of long bones, Transient hypophosphatemia
MGE-IPC2	HIST1H2BL	2.025810655	0	DNA binding protein		OMIM|602800
MGE-IPC2	NUSAP1	2.020718008	0	Cell cycle control protein	BrainSpLMD|51203	OMIM|612818
MGE-IPC2	RTKN2	2.003812059	0	Unclassified	BrainSpLMD|219790	
MGE-IPC2	CDC25C	1.98589227	0	Dual specificity phosphatase	BrainSpLMD|995	OMIM|157680
MGE-IPC2	KIF14	1.972011235	0	Motor protein	BrainSpLMD|9928	OMIM|611279;HPO|9928|Agenesis of corpus callosum, Arthrogryposis multiplex congenita, Autosomal recessive inheritance, Cerebellar hypoplasia, Cerebral hypoplasia, Intrauterine growth retardation, Microcephaly, Oligohydramnios, Renal agenesis, Renal hypoplasia, Rocker bottom foot, Sloping forehead
MGE-IPC2	WDR76	1.965108606	0	Unclassified	BrainSpLMD|79968	
MGE-IPC2	FIGN	1.955404808	0	ATPase	BrainSpLMD|55137;Eurexp|euxassay_013646|dorsal grey horn, mantle layer, marginal layer, ventral grey horn	OMIM|605295
MGE-IPC2	DLEU2	1.951028997	0	Unclassified	BrainSpLMD|8847	OMIM|605766
MGE-IPC2	SKA1	1.932895279	0	Unclassified	BrainSpLMD|220134	OMIM|616673
MGE-IPC2	HIST1H1A	1.920605941	0	DNA binding protein	BrainSpLMD|3024	OMIM|142709
MGE-IPC2	MAD2L1	1.900984358	0	Cell cycle control protein	BrainSpLMD|4085	OMIM|601467
MGE-IPC2	HMGB2	1.894882243	0	Transcription regulatory protein	BrainSpLMD|3148;Eurexp|euxassay_019251|incisor, lobe, lung, marginal layer, metanephros, molar, neural retina, oesophagus, pancreas, pituitary, submandibular gland primordium, thymus primordium, thyroid, trachea, turbinate bones, valve, ventricle, ventricular layer, vertebral axis muscle system	OMIM|163906
MGE-IPC2	SMC4	1.887830456	0	Structural protein	BrainSpLMD|10051;Eurexp|euxassay_017379|incisor, liver, lung, metanephros, molar, neural retina, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa, vomeronasal organ	OMIM|605575
MGE-IPC2	CENPK	1.886188973	0	Unclassified	BrainSpLMD|64105	OMIM|611502
MGE-IPC2	ARHGAP11B	1.885293591	0	Unclassified		SFARI||Autism, No category;OMIM|616310
MGE-IPC2	PCNA	1.882602914	0	Cell cycle control protein	BrainSpLMD|5111;Eurexp|euxassay_005732|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, spinal cord, ventricular layer	OMIM|176740;HPO|5111|Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Conjunctival telangiectasia, Cutaneous photosensitivity, Dysarthria, Dysphagia, Global developmental delay, Muscle weakness, Neurodegeneration, Pes cavus, Photophobia, Progressive, Progressive muscle weakness, Short stature, Unsteady gait
MGE-IPC2	ANP32E	1.875070343	0	Unclassified	BrainSpLMD|81611	OMIM|609611
MGE-IPC2	KIF4A	1.870647803	0	DNA binding protein	BrainSpLMD|24137;Eurexp|euxassay_017959|Meckel's cartilage, chondrocranium, incisor, nasal capsule	OMIM|300521;HPO|24137|Abnormal facial shape, Intellectual disability, Poor speech, Seizures, X-linked recessive inheritance
MGE-IPC2	UBE2T	1.869655562	0	Ubiquitin proteasome system protein	BrainSpLMD|29089;Eurexp|euxassay_004872|olfactory, respiratory, submandibular gland primordium, testis, thymus primordium, ventricular layer, vibrissa	OMIM|610538;HPO|29089|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bone marrow hypocellularity, Duplication of thumb phalanx, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pancytopenia, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Thrombocytopenia
MGE-IPC2	RACGAP1	1.865745143	0	GTPase activating protein	BrainSpLMD|29127;Eurexp|euxassay_005572|dorsal grey horn, ventricular layer	OMIM|604980
MGE-IPC2	CKAP2	1.859862778	0	Cytoskeletal associated protein	BrainSpLMD|26586;Eurexp|euxassay_001740|thymus primordium, ventricular layer	OMIM|611569
MGE-IPC2	RAD51AP1	1.841828136	0	DNA binding protein	BrainSpLMD|10635;Eurexp|euxassay_010685|ventricular layer	OMIM|603070
MGE-IPC2	SPC24	1.837635404	0	Cell cycle control protein	BrainSpLMD|147841;Eurexp|euxassay_006353|ventricular layer	OMIM|609394
MGE-IPC2	ASPM	1.835041151	0	Unclassified	BrainSpLMD|259266	SFARI||Autism, 3 - Suggestive evidence;OMIM|605481;HPO|259266|Abnormal cortical bone morphology, Agenesis of corpus callosum, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Congenital onset, Cortical gyral simplification, Delayed speech and language development, Global developmental delay, Heterotopia, Highly arched eyebrow, Hyperreflexia, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Motor delay, Narrow forehead, Pachygyria, Proptosis, Short stature, Sloping forehead, Small cerebral cortex, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-IPC2	DGKB	1.830097672	0	Lipid Kinase	BrainSpLMD|1607;Eurexp|euxassay_009581|anterior abdominal wall, mantle layer, ventricular layer	OMIM|604070
MGE-IPC2	HIST1H1B	1.795906366	0	DNA binding protein	BrainSpLMD|3009;Eurexp|euxassay_012857|marginal layer, ventricular layer	OMIM|142711
MGE-IPC2	CENPU	1.779047666	0	Unclassified	BrainSpLMD|79682	OMIM|611511
MGE-IPC2	AURKB	1.747962846	0	Serine/threonine kinase	BrainSpLMD|9212	OMIM|604970
MGE-IPC2	NDC80	1.719824215	0	Cell cycle control protein	BrainSpLMD|10403;Eurexp|euxassay_006923|embryo	OMIM|607272
MGE-IPC2	DLGAP5	1.701753765	0	Cell cycle control protein	BrainSpLMD|9787	
MGE-IPC2	TMEM123	1.66001886	0	Cell surface receptor	BrainSpLMD|114908	OMIM|606356
MGE-IPC2	KIAA0101	1.631392616	0			
MGE-IPC2	MMS22L	1.625542725	0	Unclassified	BrainSpLMD|253714	OMIM|615614
MGE-IPC2	FANCD2	1.612046903	0	Cell cycle control protein	BrainSpLMD|2177	OMIM|613984;COSMIC||AML, leukaemia;HPO|2177|Abnormal heart morphology, Abnormality of chromosome stability, Abnormality of skin pigmentation, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anemia, Anemic pallor, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bruising susceptibility, Cafe-au-lait spot, Chromosomal breakage induced by crosslinking agents, Complete duplication of thumb phalanx, Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Duplicated collecting system, Ectopic kidney, Esophageal atresia, Global developmental delay, Hearing impairment, Horseshoe kidney, Hypergonadotropic hypogonadism, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukemia, Leukopenia, Microcephaly, Microphthalmia, Neutropenia, Pancytopenia, Prolonged G2 phase of cell cycle, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Reticulocytopenia, Scoliosis, Short palpebral fissure, Short stature, Short thumb, Small for gestational age, Strabismus, Thrombocytopenia, Tracheoesophageal fistula
MGE-IPC2	BIRC5	1.586866859	0	Adapter molecule	BrainSpLMD|332	OMIM|603352
MGE-IPC2	HIST1H1C	1.547542275	0	DNA binding protein	BrainSpLMD|3006;Eurexp|euxassay_015954|ventricular layer	OMIM|142710
MGE-IPC2	DLX6	1.521553592	0	Transcription factor	BrainSpLMD|1750;BrainSpMouseDev|13175	SFARI||Autism, 4 - Minimal evidence;OMIM|600030;HPO|1750|Finger syndactyly, Oligodactyly
MGE-IPC2	TUBA1B	1.516933549	0	Structural protein	BrainSpLMD|10376	OMIM|602530
MGE-IPC2	DNA2	1.515868059	0	DNA helicase		OMIM|601810;HPO|1763|Autosomal dominant inheritance, Autosomal recessive inheritance, Convex nasal ridge, Ectopic kidney, Elevated serum creatine phosphokinase, Exercise intolerance, Exertional dyspnea, Facial palsy, Gait disturbance, Generalized amyotrophy, Global developmental delay, Gowers sign, Intellectual disability, Kyphoscoliosis, Limb-girdle muscle weakness, Microcephaly, Micrognathia, Muscle cramps, Myalgia, Progressive external ophthalmoplegia, Ptosis, Short stature, Slender build, Slow progression, Spinal cord compression
MGE-IPC2	TOX3	1.505418654	0	Unclassified	Eurexp|euxassay_006138|cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, pancreas, paraxial mesenchyme, penis, retina, stomach, stroma, tongue, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|89252	OMIM|611416
MGE-IPC2	TPX2	1.499148637	0	Cell cycle control protein	BrainSpLMD|22974	OMIM|605917
MGE-IPC2	CENPF	1.492757647	0	Cell cycle control protein	BrainSpLMD|1063	OMIM|600236
MGE-IPC2	UBE2C	1.477243682	0	Ubiquitin proteasome system protein	BrainSpLMD|11065	OMIM|605574
MGE-IPC2	CDK1	1.465625819	0	Serine/threonine kinase	BrainSpLMD|983	OMIM|116940
MGE-IPC2	HELLS	1.454820225	0	DNA binding protein	BrainSpLMD|3070	OMIM|603946;HPO|3070|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Congenital onset, Decreased antibody level in blood, Depressed nasal bridge, Epicanthus, Global developmental delay, Hypertelorism, Intellectual disability, Lymphopenia, Macrocephaly, Malabsorption, Micrognathia, Recurrent infections, Recurrent respiratory infections, Short stature
MGE-IPC2	HIST1H3B	1.448780019	0	DNA binding protein	BrainSpLMD|8358	OMIM|602819;COSMIC||glioma
MGE-IPC2	TMPO	1.404394646	0	Peptide hormone	BrainSpLMD|7112	OMIM|188380;HPO|7112|Autosomal dominant inheritance, Dilated cardiomyopathy, Reduced systolic function
MGE-IPC2	NKX2.1	1.392795827	0			
MGE-IPC2	HMGN2	1.385850216	0	Transcription regulatory protein	BrainSpLMD|3151;Eurexp|euxassay_007442|embryo;BrainSpMouseDev|15106	OMIM|163910
MGE-IPC2	SMC2	1.368679381	0	Unclassified	BrainSpLMD|10592;Eurexp|euxassay_011062|cortex, dorsal grey horn, incisor, lobe, lung, marginal layer, molar, orbito-sphenoid, submandibular gland primordium, thymus primordium, turbinate bones, ventral grey horn, ventricular layer, vibrissa	OMIM|605576
MGE-IPC2	PRC1	1.355939675	0	Cell cycle control protein	BrainSpLMD|9055	OMIM|603484
MGE-IPC2	RRM1	1.325290432	0	Cell cycle control protein	BrainSpLMD|6240;Eurexp|euxassay_018692|cortex, incisor, lobe, lung, mandible, marginal layer, mesenchyme, molar, neural retina, olfactory, submandibular gland primordium, thymus primordium, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|180410
MGE-IPC2	PTTG1	1.260166675	0	Transcription regulatory protein	BrainSpLMD|9232	OMIM|604147
MGE-IPC2	GAD2	1.230934892	0	Enzyme: Decarboxylase	BrainSpLMD|2572;Eurexp|euxassay_001769|dorsal grey horn, lateral ventricle, mantle layer;BrainSpMouseDev|14193	OMIM|138275
MGE-IPC2	HMGN2P5	1.224802969	0			
MGE-IPC2	HMGB1P5	1.176559051	0			
MGE-IPC2	HMGB1	1.171101084	0	DNA binding protein	BrainSpMouseDev|15064	OMIM|163905
MGE-IPC2	GLCCI1	1.160462074	0	Unclassified	BrainSpLMD|113263;Eurexp|euxassay_014439|axial skeleton, nasal septum, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|82074	OMIM|614283
MGE-IPC2	TRIM59	1.160199175	0	Ubiquitin proteasome system protein		OMIM|616148
MGE-IPC2	H2AFZ	1.150333605	0	DNA binding protein	BrainSpLMD|3015	OMIM|142763
MGE-IPC2	HMGN2P3	1.148954033	0			
MGE-IPC2	PFN2	1.143427552	0	Structural protein	BrainSpLMD|5217;Eurexp|euxassay_002518|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|176590
MGE-IPC2	IQGAP3	1.140051857	0	GTPase activating protein	BrainSpLMD|128239	SFARI||Autism, 4 - Minimal evidence
MGE-IPC2	RP11.673C5.1	1.12614833	0			
MGE-IPC2	HIST1H1E	0.985860288	0	DNA binding protein	BrainSpLMD|3008;Eurexp|euxassay_005923|embryo	OMIM|142220;HPO|3008|Accelerated skeletal maturation, Amblyopia, Astigmatism, Autosomal dominant inheritance, Camptodactyly, Full cheeks, Global developmental delay, Hypertonia, Intellectual disability, Kyphoscoliosis, Macrocephaly, Neonatal hypotonia, Nevus, Strabismus, Talipes equinovarus, Telecanthus
MGE-IPC2	KPNA2	0.975674838	0	Transport/cargo protein	BrainSpLMD|3838	OMIM|600685
MGE-IPC2	DLX2	0.925822848	0	Transcription factor	BrainSpLMD|1746;BrainSpMouseDev|13171	SFARI||Autism, 4 - Minimal evidence;OMIM|126255
MGE-IPC2	HMGB1P1	0.906676385	0	Transcription regulatory protein		
MGE-IPC2	HIST1H2BD	0.817371832	0	DNA binding protein	BrainSpLMD|3017	OMIM|602799
MGE-IPC2	HIST1H2BK	0.71802308	0	DNA binding protein	BrainSpLMD|85236	OMIM|615045
MGE-IPC2	SOX2.OT	0.708062136	0			
MGE-IPC2	HMGN2P41	0.547656681	0			
MGE-IPC2	PTMA	0.486678298	0	Unclassified	BrainSpLMD|5757	OMIM|188390
MGE-IPC2	DLX6.AS1	0.33170932	0			
MGE-IPC2	STMN1	0.27963901	0	Structural protein	BrainSpLMD|3925;Eurexp|euxassay_008627|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|151442
MGE-IPC2	KNTC1	1.724362585	1.11E-16	Cell cycle control protein	BrainSpLMD|9735;Eurexp|euxassay_011295|ventricular layer	OMIM|607363
MGE-IPC2	CEP152	1.687455308	1.11E-16	Unclassified	Eurexp|euxassay_011313|axial skeleton, basioccipital bone, choroid invagination, choroid plexus, epithelium, femur, humerus, inner ear, olfactory, pelvic girdle, pituitary, roof plate, scapula, vomeronasal organ	OMIM|613529;HPO|22995|Abnormal cortical bone morphology, Abnormal cortical gyration, Abnormality of dental enamel, Absent earlobe, Agenesis of corpus callosum, Aggressive behavior, Autosomal recessive inheritance, Bimanual synkinesia, Cachexia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Heterotopia, High palate, Hip dysplasia, Hyperreflexia, Hypodontia, Hypoplasia of the frontal lobes, Impulsivity, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint hyperflexibility, Large beaked nose, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Oligodontia, Pachygyria, Prematurely aged appearance, Prominent nasal bridge, Reduced number of teeth, Retrognathia, Sandal gap, Short stature, Sloping forehead, Sparse scalp hair, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-IPC2	ANLN	1.661775258	1.11E-16	Structural protein	BrainSpLMD|54443;Eurexp|euxassay_004352|ventricular layer	OMIM|616027;HPO|54443|Autosomal dominant inheritance, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease
MGE-IPC2	MYO1B	1.424673374	1.11E-16	Motor protein	BrainSpLMD|4430;Eurexp|euxassay_006192|mantle layer, olfactory, ventricular layer	OMIM|606537
MGE-IPC2	SOX6	1.316879065	1.11E-16	Transcription factor	BrainSpLMD|55553;BrainSpMouseDev|20441	OMIM|607257
MGE-IPC2	DLX1	1.13928952	1.11E-16	Transcription factor	BrainSpLMD|1745;Eurexp|euxassay_008426|cochlea, epithelium, footplate, handplate, incisor, inner ear, mantle layer, midgut, naso-lacrimal duct, neural retina, oesophagus, paraxial mesenchyme, retina, skeletal muscle, skeleton, stomach, utricle, vibrissa;BrainSpMouseDev|13169	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600029
MGE-IPC2	KIF20B	1.117331927	1.11E-16	Cell cycle control protein	BrainSpLMD|9585	OMIM|605498
MGE-IPC2	CKS2	1.085977439	1.11E-16	Cell cycle control protein	BrainSpLMD|1164	OMIM|116901
MGE-IPC2	H3F3A	0.566699592	1.11E-16	DNA binding protein		OMIM|601128;COSMIC||glioma
MGE-IPC2	HIST1H2BH	2.654802211	2.22E-16	DNA binding protein		OMIM|602806
MGE-IPC2	SKA3	1.64201321	2.22E-16	Unclassified	BrainSpLMD|221150;Eurexp|euxassay_011780|brain, choroid invagination, left lung, mantle layer, right lung, ventricle, vertebral axis muscle system	
MGE-IPC2	H2AFV	1.409357685	2.22E-16	DNA binding protein	BrainSpLMD|94239;Eurexp|euxassay_010704|metanephros, ventricular layer	
MGE-IPC2	ASCL1	1.408124185	2.22E-16	Transcription factor	BrainSpLMD|429;BrainSpMouseDev|16941	OMIM|100790;HPO|429|Abnormality of temperature regulation, Abnormality of the cardiovascular system, Abnormality of the mouth, Aganglionic megacolon, Autonomic dysregulation, Autosomal dominant inheritance, Breathing dysregulation, Central hypoventilation, Central sleep apnea, Constipation, Death in infancy, Downslanted palpebral fissures, Dysautonomia, Failure to thrive, Feeding difficulties, Ganglioneuroblastoma, Ganglioneuroma, Gastroesophageal reflux, Hyperhidrosis, Intellectual disability, Low-set ears, Muscular hypotonia, Posteriorly rotated ears, Seizures, Small for gestational age, Strabismus
MGE-IPC2	RPL21P28	1.387397285	3.33E-16			
MGE-IPC2	BLM	1.882525058	4.44E-16	DNA binding protein	BrainSpLMD|641	OMIM|604610;COSMIC||leukaemia, lymphoma, skin squamous cell, other tumour types;HPO|641|Abnormality of chromosome stability, Agenesis of maxillary lateral incisor, Autosomal recessive inheritance, Azoospermia, Bronchiectasis, Cafe-au-lait spot, Chromosome breakage, Chronic lung disease, Clinodactyly of the 5th finger, Cryptorchidism, Cutaneous photosensitivity, Decreased fertility in females, Delayed skeletal maturation, Diarrhea, Dolichocephaly, Erythema, Facial telangiectasia in butterfly midface distribution, Hand polydactyly, High pitched voice, Hypertrichosis, Hypoplasia of the zygomatic bone, IgA deficiency, IgG deficiency, IgM deficiency, Intrauterine growth retardation, Leukemia, Lymphoma, Malar flattening, Microcephaly, Narrow face, Postnatal growth retardation, Prominent nose, Protruding ear, Recurrent respiratory infections, Short nose, Short stature, Sinusitis, Specific learning disability, Spotty hyperpigmentation, Spotty hypopigmentation, Squamous cell carcinoma, Syndactyly, Type II diabetes mellitus
MGE-IPC2	HJURP	1.851694207	4.44E-16	Unclassified	BrainSpLMD|55355	OMIM|612667
MGE-IPC2	FANCI	1.518842321	6.66E-16	Unclassified	BrainSpLMD|55215	OMIM|611360;HPO|55215|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
MGE-IPC2	KIF22	1.423145315	7.77E-16	DNA binding protein	BrainSpLMD|3835	OMIM|603213;HPO|3835|Abnormal calcification of the carpal bones, Abnormality of the patella, Abnormality of the sacrum, Anteverted nares, Autosomal dominant inheritance, Broad distal phalanx of finger, Carpal bone hypoplasia, Caudal interpedicular narrowing, Congenital hip dislocation, Delayed patellar ossification, Delayed phalangeal epiphyseal ossification, Depressed nasal bridge, Dislocated radial head, Enlarged thorax, Flared metaphysis, Flat capital femoral epiphysis, Frontal bossing, Generalized hypotonia, Genu valgum, Global developmental delay, Hip dislocation, Hypoplasia of the capital femoral epiphysis, Irregular epiphyses, Irregular vertebral endplates, Joint hyperflexibility, Joint laxity, Kyphosis, Large joint dislocations, Laryngeal stenosis, Laryngotracheomalacia, Long distal phalanx of finger, Long proximal phalanx of finger, Macrocephaly, Malar flattening, Metaphyseal irregularity, Micromelia, Midface retrusion, Nail dysplasia, Narrow femoral neck, Osteoarthritis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Short nose, Short stature, Skeletal dysplasia, Slender distal phalanx of finger, Slender metacarpals, Slender proximal phalanx of finger, Small epiphyses, Soft skin, Spinal dysraphism, Spondyloepimetaphyseal dysplasia, Streaky metaphyseal sclerosis, Wide nose
MGE-IPC2	HIST1H3C	1.050250318	1.11E-15	DNA binding protein	BrainSpLMD|8352	OMIM|602812
MGE-IPC2	BEST3	1.847919907	1.44E-15	Integral membrane protein	BrainSpLMD|144453	OMIM|607337
MGE-IPC2	BARD1	1.622417373	1.44E-15	Transcription regulatory protein	BrainSpLMD|580	OMIM|601593;COSMIC||breast cancer, ovarian cancer, breast cancer, endometrioid cancer;HPO|580|Abnormality of the fallopian tube, Breast carcinoma, Ovarian neoplasm, Primary peritoneal carcinoma
MGE-IPC2	SGOL2	0.98504535	2.11E-15			
MGE-IPC2	SRSF3	0.413348614	2.22E-15	RNA binding protein	BrainSpLMD|6428	OMIM|603364;COSMIC||follicular lymphoma
MGE-IPC2	CENPE	1.474322463	2.89E-15	DNA binding protein	BrainSpLMD|1062	OMIM|117143;HPO|1062|Abnormality of dental enamel, Absent earlobe, Autosomal recessive inheritance, Cachexia, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Hip dysplasia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Metaphyseal sclerosis, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Partial agenesis of the corpus callosum, Prematurely aged appearance, Prominent nose, Reduced number of teeth, Round face, Sandal gap, Seizures, Short foot, Short stature, Sloping forehead, Small hand, Sparse scalp hair
MGE-IPC2	FOXM1	2.120009316	3.22E-15	Transcription factor	BrainSpLMD|2305;BrainSpMouseDev|14012	OMIM|602341
MGE-IPC2	PBX3	1.708477689	3.66E-15	Transcription factor	BrainSpLMD|5090;Eurexp|euxassay_002571|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, pharyngo-tympanic tube, spinal cord;BrainSpMouseDev|18282	OMIM|176312
MGE-IPC2	EXO1	2.534906131	3.77E-15	DNA exonuclease	BrainSpLMD|9156;Eurexp|euxassay_008408|anterior, bladder, cornea, epithelium, external, footplate, handplate, incisor, left lung, liver, mantle layer, marginal layer, metanephros, midgut, molar, nasal septum, naso-lacrimal duct, olfactory, pancreas, rest of mesenchyme, retina, right lung, skeletal muscle, stomach, submandibular gland primordium, thymus primordium, thyroid, trachea, urethra, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|606063
MGE-IPC2	HMGB1P10	1.111275497	5.00E-15			
MGE-IPC2	SOX4	0.406120073	6.55E-15	Transcription factor	BrainSpLMD|6659;Eurexp|euxassay_019583|cervical, cervico-thoracic, dorsal grey horn, dorsal root ganglion, incisor, lung, mantle layer, mesenchyme, metanephros, molar, neural retina, oesophagus, phalanx, submandibular gland primordium, testis, trachea, valve, vibrissa;BrainSpMouseDev|20439	OMIM|184430
MGE-IPC2	ELF2	1.211404319	1.10E-14	Transcription factor	BrainSpLMD|1998;BrainSpMouseDev|45099	
MGE-IPC2	E2F8	2.942253964	1.18E-14	Transcription factor	BrainSpLMD|79733;BrainSpMouseDev|73120	OMIM|612047
MGE-IPC2	ZNF43	0.953068383	1.20E-14	DNA binding protein	BrainSpLMD|7594	OMIM|603972
MGE-IPC2	NCAPH	2.601882267	1.52E-14	Cell cycle control protein	BrainSpLMD|23397;Eurexp|euxassay_002558|ventricular layer	OMIM|602332
MGE-IPC2	BUB1B	2.097108605	1.62E-14	Serine/threonine kinase	BrainSpLMD|701;Eurexp|euxassay_018755|cortex, ear, hindgut, incisor, lobe, lung, mandible, marginal layer, maxilla, midgut, molar, neural retina, oesophagus, olfactory, orbito-sphenoid, pancreas, rectum, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, trachea, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ, wall	OMIM|602860;COSMIC||rhabdomyosarcoma;HPO|701|Abnormality of vision, Agenesis of corpus callosum, Ambiguous genitalia, Anteverted nares, Ascites, Autosomal recessive inheritance, Bifid scrotum, Brachycephaly, Cataract, Cerebellar hypoplasia, Cerebral hypoplasia, Cleft palate, Combined immunodeficiency, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Depressed nasal bridge, Epicanthus, Feeding difficulties in infancy, Generalized hypotonia, Generalized myoclonic seizures, Generalized tonic-clonic seizures, Glaucoma, Global developmental delay, Hereditary nonpolyposis colorectal carcinoma, High forehead, Hydrocephalus, Hypertelorism, Hypodysplasia of the corpus callosum, Hypospadias, Increased nuchal translucency, Intellectual disability, Intellectual disability, profound, Intrauterine growth retardation, Leukemia, Long philtrum, Low-set ears, Malar flattening, Microcephaly, Micrognathia, Micropenis, Microphthalmia, Midface retrusion, Muscular dystrophy, Neoplasm of the stomach, Nephroblastoma, Nystagmus, Oligohydramnios, Phenotypic variability, Polyhydramnios, Posteriorly rotated ears, Postnatal growth retardation, Premature chromatid separation, Renal cell carcinoma, Renal cyst, Rhabdomyosarcoma, Severe global developmental delay, Short neck, Short nose, Short stature, Short sternum, Small for gestational age, Transitional cell carcinoma of the bladder, Triangular face, Triangular mouth, Upslanted palpebral fissure, Uterine leiomyosarcoma, Ventriculomegaly, Wide nose
MGE-IPC2	GMNN	1.339984728	1.69E-14	Cell cycle control protein	BrainSpLMD|51053;Eurexp|euxassay_013652|cortex, incisor, lobe, lung, molar, pancreas, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|602842;HPO|51053|Abnormality of epiphysis morphology, Abnormality of the ribs, Anotia, Aplastic clavicles, Atresia of the external auditory canal, Autosomal dominant inheritance, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Conductive hearing impairment, Craniosynostosis, Cryptorchidism, Delayed puberty, Delayed skeletal maturation, Depressed nasal ridge, Failure to thrive, Feeding difficulties, Growth hormone deficiency, High, narrow palate, Hip dysplasia, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Microtia, third degree, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Recurrent respiratory infections, Respiratory distress, Respiratory failure, Retrognathia, Severe short stature, Short middle phalanx of finger, Slender long bone, Stenosis of the external auditory canal, Umbilical hernia
MGE-IPC2	CHEK1	1.836705426	2.12E-14	Serine/threonine kinase	BrainSpLMD|1111	OMIM|603078
MGE-IPC2	ORC6	1.605409782	2.34E-14	DNA binding protein	BrainSpLMD|23594;Eurexp|euxassay_007673|cortex, incisor, left, mandible, molar, right, submandibular gland primordium, ventricular layer	OMIM|607213;HPO|23594|Abnormality of epiphysis morphology, Abnormality of the ribs, Absent sternal ossification, Anotia, Aplasia/Hypoplasia of the patella, Aplastic clavicles, Atresia of the external auditory canal, Autosomal recessive inheritance, Birth length less than 3rd percentile, Breast hypoplasia, Bronchomalacia, Camptodactyly of finger, Clinodactyly of the 5th finger, Clitoral hypertrophy, Clitoral hypoplasia, Coxa vara, Craniosynostosis, Cryptorchidism, Delayed skeletal maturation, Downslanted palpebral fissures, Dyspnea, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Genu varum, High, narrow palate, Hypoplasia of the maxilla, Hypoplastic labia majora, Hypoplastic labia minora, Hypospadias, Intrauterine growth retardation, Joint hyperflexibility, Laryngomalacia, Low-set ears, Mandibular aplasia, Microcephaly, Micrognathia, Micropenis, Microretrognathia, Microtia, Microtia, third degree, Narrow chest, Narrow mouth, Patellar aplasia, Posteriorly rotated ears, Prominent nasal bridge, Recurrent pneumonia, Respiratory distress, Respiratory failure, Retrognathia, Scrotal hypoplasia, Severe short stature, Short ribs, Short thorax, Slender long bone, Talipes equinovarus, Thick lower lip vermilion, Tracheomalacia, Triangular face
MGE-IPC2	SOX2	0.769392445	2.34E-14	Transcription factor	Eurexp|euxassay_019525|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lung, mantle layer, medulla, midgut, neural retina, oesophagus, olfactory, oral epithelium, pituitary, saccule, stomach, testis, trachea, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|20436	OMIM|184429;COSMIC||NSCLC, oesophageal squamous carcinoma, Microphthalmia and oesophageal atresia syndrome;HPO|6657|Agenesis of corpus callosum, Anophthalmia, Anterior pituitary hypoplasia, Autosomal dominant inheritance, Butterfly vertebrae, Cleft palate, Coloboma, Cryptorchidism, Esophageal atresia, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hemivertebrae, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypospadias, Hypothalamic hamartoma, Microcephaly, Micropenis, Microphthalmia, Missing ribs, Nystagmus, Optic nerve hypoplasia, Patent ductus arteriosus, Postnatal growth retardation, Rib fusion, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Short stature, Spastic diplegia, Spastic tetraplegia, Specific learning disability, Strabismus, Supernumerary ribs, Tracheoesophageal fistula, Ventricular septal defect, Vertebral fusion, Vertebral hypoplasia, Visual impairment, Visual loss
MGE-IPC2	FAM111B	2.085472974	2.46E-14	Unclassified	BrainSpLMD|374393	OMIM|615584;HPO|374393|Alopecia, Autosomal dominant inheritance, Elevated serum creatine phosphokinase, Hepatomegaly, Hypohidrosis, Poikiloderma, Skeletal muscle atrophy
MGE-IPC2	KIFC1	2.170190714	2.48E-14	Motor protein	Eurexp|euxassay_010691|marginal layer, ventricular layer	OMIM|603763
MGE-IPC2	PLK4	2.052541793	2.68E-14	Serine/threonine kinase	BrainSpLMD|10733;Eurexp|euxassay_003979|Meckel's cartilage, clavicle, cranium, rib, turbinate	OMIM|605031;HPO|10733|Abnormality of dental enamel, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the eyelashes, Absent earlobe, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Autosomal recessive inheritance, Biparietal narrowing, Cachexia, Cataract, Cerebellar atrophy, Cerebral atrophy, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital onset, Convex nasal ridge, Cortical gyral simplification, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Hip dysplasia, Hypertonia, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Mild global developmental delay, Narrow face, Nystagmus, Optic atrophy, Pointed chin, Prematurely aged appearance, Protruding ear, Reduced number of teeth, Sandal gap, Scoliosis, Seizures, Short stature, Sloping forehead, Sparse scalp hair, Strabismus, Visual impairment, Wide nasal bridge
MGE-IPC2	BRIP1	1.997799575	2.72E-14	DNA helicase	BrainSpLMD|83990;Eurexp|euxassay_013686|cochlea, marginal layer, ventricular layer	OMIM|605882;COSMIC||AML, leukaemia, breast;HPO|83990|Abnormality of chromosome stability, Abnormality of the fallopian tube, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone marrow hypocellularity, Breast carcinoma, Chromosomal breakage induced by crosslinking agents, Esophageal atresia, Global developmental delay, Heterogeneous, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Ovarian neoplasm, Postnatal growth retardation, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
MGE-IPC2	USP1	1.360742796	3.69E-14	Ubiquitin proteasome system protein	BrainSpLMD|7398	OMIM|603478
MGE-IPC2	KIF2C	1.488414586	3.76E-14	Motor protein	BrainSpLMD|11004;Eurexp|euxassay_003601|4th ventricle, bladder, forebrain, hindbrain, hindlimb, incisor, limb, liver, lung, metanephros, midbrain, midgut, molar, oesophagus, olfactory, orbito-sphenoid, pancreas, penis, pharyngo-tympanic tube, respiratory, retina, spinal cord, submandibular gland primordium, testis, thymus primordium, thyroid, tongue, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|604538
MGE-IPC2	ZWINT	1.699583557	5.26E-14	Cell cycle control protein	BrainSpLMD|11130;Eurexp|euxassay_009942|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, valve, vestibulocochlear VIII	OMIM|609177
MGE-IPC2	DEK	1.245215438	1.39E-13	DNA binding protein	BrainSpLMD|7913	OMIM|125264;COSMIC||AML
MGE-IPC2	CDK6	1.109420103	2.34E-13	Cell cycle control protein	BrainSpLMD|1021	OMIM|603368;COSMIC||ALL;HPO|1021|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Cortical gyral simplification, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-IPC2	BUB1	1.619021939	2.42E-13	Serine/threonine kinase	BrainSpLMD|699;Eurexp|euxassay_018012|3rd ventricle, 4th ventricle, adrenal gland, cochlea, cochlear duct, cortex, foregut-midgut junction, incisor, liver, liver and biliary system, loop, lung, metanephros, midgut, molar, naris, pancreas, penis, retina, rib, submandibular gland primordium, testis, thymus primordium, tongue, turbinate bones, ventricular layer, vibrissa	OMIM|602452;HPO|699|Abnormality of vision, Ascites, Cataract, Corneal opacity, Dandy-Walker malformation, Epicanthus, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Polyhydramnios, Short stature, Triangular face
MGE-IPC2	PARPBP	1.883674504	2.47E-13	Unclassified	BrainSpLMD|55010	OMIM|613687
MGE-IPC2	DIAPH3	1.084962521	2.70E-13	Unclassified	BrainSpLMD|81624;Eurexp|euxassay_012699|incisor, molar, pituitary, submandibular gland primordium, ventricular layer, vibrissa	SFARI||Autism, 5 - Hypothesized but untested;OMIM|614567;HPO|81624|Abnormal auditory evoked potentials, Abnormal speech discrimination, Absence of acoustic reflex, Autosomal dominant inheritance, Sensorineural hearing impairment
MGE-IPC2	UHRF1	1.197391306	3.32E-13	DNA binding protein	BrainSpLMD|29128	OMIM|607990
MGE-IPC2	KIF23	1.594897519	3.36E-13	Motor protein	BrainSpLMD|9493;Eurexp|euxassay_006188|incisor, lung, mantle layer, marginal layer, olfactory, submandibular gland primordium, thymus primordium, thyroid, ventricular layer	OMIM|605064;HPO|9493|Abnormal cellular phenotype, Abnormal proerythroblast morphology, Anemia, Anisocytosis, Fatigue, Hyperbilirubinemia, Increased mean corpuscular volume, Increased serum iron, Increased total iron binding capacity, Poikilocytosis
MGE-IPC2	PRR11	1.511129754	3.89E-13	Unclassified	BrainSpLMD|55771	OMIM|615920
MGE-IPC2	NRXN3	0.773433184	3.94E-13	Adhesion molecule	BrainSpLMD|9369;Eurexp|euxassay_009777|bladder, collecting ducts, inner ear, mantle layer, marginal layer, neural retina, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|600567
MGE-IPC2	STXBP5L	1.378707219	4.06E-13	Transport/cargo protein	Eurexp|euxassay_011926|mantle layer	OMIM|609381
MGE-IPC2	CDCA8	1.649509774	4.61E-13	Cell cycle control protein	BrainSpLMD|55143	OMIM|609977
MGE-IPC2	CHD7	0.815926181	5.51E-13	DNA binding protein	Eurexp|euxassay_010758|marginal layer, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|608892;HPO|55636|Abnormality of body height, Abnormality of female internal genitalia, Abnormality of lymphocytes, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Alopecia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bifid scrotum, Breast hypoplasia, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Desquamation of skin soon after birth, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysphagia, Edema, Eosinophilia, Erectile abnormalities, Erythroderma, Esophageal atresia, Eunuchoid habitus, External ear malformation, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Female hypogonadism, Fever, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Hepatomegaly, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphopenia, Malar flattening, Male hypogonadism, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Non-obstructive azoospermia, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Pneumonia, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Secondary amenorrhea, Sensorineural hearing impairment, Severe combined immunodeficiency, Sparse body hair, Splenomegaly, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Thickened skin, Tracheoesophageal fistula, Umbilical hernia, Ventricular septal defect, Wide intermamillary distance
MGE-IPC2	CIT	1.745363304	1.14E-12	Serine/threonine kinase	BrainSpLMD|11113;Eurexp|euxassay_014352|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, cervical region, clavicle, femur, fibula, humerus, hyoid bone, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, phalanx, radius, rib, scapula, thyroid, tibia, turbinate bones, vault of skull;BrainSpMouseDev|12488	OMIM|605629;HPO|11113|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Bulbous nose, Cerebellar hypoplasia, Congenital onset, Cortical gyral simplification, Failure to thrive, Global developmental delay, Heterotopia, Hyperreflexia, Hypertelorism, Hypoplasia of the brainstem, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Macrotia, Microcephaly, Pachygyria, Renal agenesis, Short stature, Sloping forehead, Spasticity, Thick vermilion border, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Variable expressivity, Ventriculomegaly, Vesicoureteral reflux
MGE-IPC2	HIST1H1D	0.90989429	1.57E-12	DNA binding protein	BrainSpLMD|3007;Eurexp|euxassay_000515|marginal layer, ventricular layer	OMIM|142210
MGE-IPC2	BRCA2	1.829430263	1.62E-12	Transcription regulatory protein	BrainSpLMD|675;Eurexp|euxassay_019615|ventricular layer	SFARI||Autism, 4 - Minimal evidence;OMIM|600185;COSMIC||breast, ovarian, pancreatic, breast, ovarian, pancreatic, leukaemia  (FANCB, FANCD1);HPO|675|Abdominal pain, Abnormality of chromosome stability, Abnormality of the fallopian tube, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal dominant inheritance, Autosomal recessive inheritance, Bone marrow hypocellularity, Breast carcinoma, Chromosomal breakage induced by crosslinking agents, Esophageal atresia, Global developmental delay, Heterogeneous, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Nephroblastoma, Ovarian neoplasm, Primary peritoneal carcinoma, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Somatic mutation, Thrombocytopenia, Tracheoesophageal fistula
MGE-IPC2	DLX5	0.876615624	1.69E-12	Transcription regulatory protein	BrainSpLMD|1749;BrainSpMouseDev|13174	OMIM|600028;HPO|1749|Autosomal recessive inheritance, Finger syndactyly, Oligodactyly, Sensorineural hearing impairment, Split foot, Split hand
MGE-IPC2	CRB1	1.099373263	1.86E-12	Unclassified	BrainSpLMD|23418	OMIM|604210;HPO|23418|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Encephalocele, Esotropia, Glaucoma, Hemiplegia/hemiparesis, High-grade hypermetropia, Hyperinsulinemia, Hypermetropia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Muscular hypotonia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paravenous chorioretinal atrophy, Pendular nystagmus, Photophobia, Progressive night blindness, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe visual impairment, Undetectable electroretinogram, Visual impairment, Vitreoretinal degeneration, Wide nasal bridge
MGE-IPC2	KIF20A	1.603865386	2.33E-12	Motor protein	BrainSpLMD|10112;Eurexp|euxassay_004675|ventricular layer	OMIM|605664
MGE-IPC2	TTF2	2.185034967	2.43E-12	Transcription regulatory protein	BrainSpLMD|8458;Eurexp|euxassay_012438|ventricular layer;BrainSpMouseDev|49885	OMIM|604718
MGE-IPC2	NCAPD3	2.081635308	2.57E-12	Unclassified	BrainSpLMD|23310	OMIM|609276
MGE-IPC2	EPHA4	1.121154435	2.87E-12	Receptor tyrosine kinase	BrainSpLMD|2043;BrainSpMouseDev|13616	OMIM|602188;HPO|2043|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
MGE-IPC2	CDCA7	0.947322078	3.09E-12	Cell cycle control protein	BrainSpLMD|83879	OMIM|609937;HPO|83879|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Conductive hearing impairment, Cryptorchidism, Decreased antibody level in blood, Depressed nasal bridge, Flat face, Global developmental delay, Hypertelorism, Hypoplastic ischia, Hypospadias, Intellectual disability, Intrauterine growth retardation, Low-set ears, Lymphopenia, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Polydactyly, Recurrent respiratory infections, Short nose, Short stature, Strabismus
MGE-IPC2	DEPDC1B	1.527475768	3.78E-12	Unclassified	BrainSpLMD|55789	OMIM|616073
MGE-IPC2	CDCA2	2.277275581	3.87E-12	Unclassified	BrainSpLMD|157313;Eurexp|euxassay_000111|cortex, marginal layer, metanephros, midbrain, thalamus, ventricular layer	
MGE-IPC2	TROAP	0.896544792	4.05E-12	Adhesion molecule	BrainSpLMD|10024	OMIM|603872
MGE-IPC2	EZH2	1.153338033	4.19E-12	Transcription regulatory protein	BrainSpLMD|2146	OMIM|601573;COSMIC||DLBCL;HPO|2146|Abnormality of the fingernails, Abnormality of the metaphysis, Abnormally low-pitched voice, Absent septum pellucidum, Accelerated skeletal maturation, Autosomal dominant inheritance, Behavioral abnormality, Broad foot, Broad forehead, Broad thumb, Calcaneovalgus deformity, Camptodactyly, Camptodactyly of finger, Clinodactyly, Coxa valga, Cryptorchidism, Cutis laxa, Deep philtrum, Deep-set nails, Delayed speech and language development, Depressed nasal bridge, Diastasis recti, Dilation of lateral ventricles, Dimple chin, Downslanted palpebral fissures, Dysarthria, Dysharmonic bone age, Epicanthus, Feeding difficulties in infancy, Fine hair, Flared femoral metaphysis, Flared humeral metaphysis, Generalized hypotonia, Global developmental delay, Hoarse voice, Hydrocele testis, Hypertelorism, Hypertonia, Hypoplastic iliac wing, Hypoplastic toenails, Inguinal hernia, Intellectual disability, Inverted nipples, Joint contracture of the hand, Joint stiffness, Kyphosis, Large hands, Limited elbow extension, Limited knee extension, Long philtrum, Low-set, posteriorly rotated ears, Macrocephaly, Macrotia, Mandibular prognathia, Metatarsus adductus, Micrognathia, Overlapping toe, Pes cavus, Prominent fingertip pads, Radial deviation of finger, Redundant skin, Retrognathia, Round face, Scoliosis, Seizures, Short fourth metatarsal, Short ribs, Slurred speech, Sparse hair, Spasticity, Strabismus, Talipes equinovarus, Tall stature, Thin nail, Umbilical hernia
MGE-IPC2	TMSB15A	0.834714078	4.92E-12	Unclassified	BrainSpLMD|11013	OMIM|300939
MGE-IPC2	ZNF833P	2.736795517	5.05E-12			
MGE-IPC2	TMEM2	0.866375918	5.61E-12	Integral membrane protein	BrainSpLMD|23670	OMIM|605835
MGE-IPC2	DEPDC1	2.002513305	5.63E-12	Unclassified	BrainSpLMD|55635	OMIM|612002
MGE-IPC2	CENPJ	1.081747709	9.14E-12	Cytoskeletal protein	BrainSpLMD|55835;Eurexp|euxassay_014821|cortex, incisor, lung, marginal layer, molar, neural retina, olfactory, pituitary, submandibular gland primordium, testis, thymus primordium, thyroid, ventricular layer, vibrissa, vomeronasal organ	OMIM|609279;HPO|55835|11 pairs of ribs, Abnormal cortical bone morphology, Abnormality of dental enamel, Absent earlobe, Agenesis of corpus callosum, Autosomal recessive inheritance, Cachexia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital onset, Convex nasal ridge, Craniosynostosis, Decreased body weight, Delayed skeletal maturation, Downslanted palpebral fissures, Glaucoma, Global developmental delay, Heterogeneous, Heterotopia, High forehead, Hip dysplasia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Intrauterine growth retardation, Joint hyperflexibility, Low-set ears, Microcephaly, Micrognathia, Mild global developmental delay, Narrow face, Pachygyria, Prematurely aged appearance, Reduced number of teeth, Retrognathia, Sandal gap, Short stature, Sloping forehead, Small cerebral cortex, Sparse scalp hair, Steep acetabular roof, Thin upper lip vermilion, Underdeveloped nasal alae, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-IPC2	CKS1B	1.650474328	1.12E-11	Cell cycle control protein		OMIM|116900
MGE-IPC2	CENPO	1.826733182	1.16E-11	Unclassified	BrainSpLMD|79172;Eurexp|euxassay_000072|Meckel's cartilage, basal plate, chondrocranium, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lobe, lung, molar, olfactory, submandibular gland primordium, testis, thymus primordium, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|611504
MGE-IPC2	TET2	0.830465852	1.18E-11	Unclassified	BrainSpLMD|54790	SFARI||Autism, No category;OMIM|612839;COSMIC||MDS;HPO|54790|Abdominal pain, Abnormal platelet morphology, Acute leukemia, Amaurosis fugax, Angina pectoris, Arterial thrombosis, Arthralgia, Bruising susceptibility, Chest pain, Epistaxis, Fatigue, Gingival bleeding, Headache, Hepatomegaly, Increased megakaryocyte count, Myelodysplasia, Myelofibrosis, Myocardial infarction, Paresthesia, Prolonged bleeding time, Respiratory insufficiency, Somatic mutation, Splenomegaly, Tinnitus, Transient ischemic attack, Venous thrombosis, Vertigo, Weight loss
MGE-IPC2	DAPK1	1.265051032	1.22E-11	Serine/threonine kinase	BrainSpLMD|1612	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600831
MGE-IPC2	CDCA5	2.024307221	1.23E-11	Unclassified	BrainSpLMD|113130	OMIM|609374
MGE-IPC2	FAM64A	1.886959448	1.64E-11			
MGE-IPC2	KIF4B	0.991224884	1.81E-11	Motor protein		OMIM|609184
MGE-IPC2	MIR16.2	1.482480493	2.18E-11			
MGE-IPC2	CEP135	1.702313762	4.41E-11	Unclassified	BrainSpLMD|9662	SFARI||Autism, 3 - Suggestive evidence;OMIM|611423;HPO|9662|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Congenital onset, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, severe, Microcephaly, Pachygyria, Retrognathia, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-IPC2	PDZRN3	0.687622645	4.53E-11	Unclassified	BrainSpLMD|23024;Eurexp|euxassay_000356|mantle layer	OMIM|609729
MGE-IPC2	STAG1	1.014916539	5.96E-11	Cell cycle control protein	BrainSpLMD|10274	SFARI||Autism, No category;OMIM|604358;COSMIC||colorectal cancer, AML
MGE-IPC2	HMGB3	0.877473338	7.32E-11	DNA binding protein	BrainSpLMD|3149;BrainSpMouseDev|15129	OMIM|300193;HPO|3149|Abnormality of the pinna, Anteverted ears, Coloboma, Esotropia, Global developmental delay, Intellectual disability, Microcephaly, Microcornea, Microphthalmia, Pendular nystagmus, Ptosis, Short stature, X-linked inheritance
MGE-IPC2	KIF18A	1.811225002	1.02E-10	Motor protein	BrainSpLMD|81930	OMIM|611271
MGE-IPC2	VRK1	1.227403099	1.04E-10	Serine/threonine kinase	BrainSpLMD|7443	OMIM|602168;HPO|7443|Abnormality of the foot, Ataxia, Autosomal recessive inheritance, Basal ganglia gliosis, Cerebellar hypoplasia, Congenital contracture, Congenital onset, Degeneration of anterior horn cells, EMG: neuropathic changes, Fasciculations, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Hyperreflexia, Hypoplasia of the pons, Hypoplasia of the ventral pons, Intellectual disability, Muscle weakness, Neuronal loss in basal ganglia, Progressive, Respiratory insufficiency, Spinal muscular atrophy
MGE-IPC2	RND3	1.082995146	1.16E-10	G protein	BrainSpLMD|390	OMIM|602924
MGE-IPC2	CENPI	1.751316619	1.47E-10	Unclassified	BrainSpLMD|2491	OMIM|300065
MGE-IPC2	SKA2	0.783781729	1.47E-10	Unclassified	BrainSpLMD|348235;Eurexp|euxassay_007512|left lung, metanephros, olfactory, retina, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|616674
MGE-IPC2	C21orf58	1.806335721	1.75E-10	Unclassified	BrainSpLMD|54058	
MGE-IPC2	STIL	2.353988278	1.86E-10	Unclassified	BrainSpLMD|6491	OMIM|181590;COSMIC||T-ALL;HPO|6491|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Congenital onset, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-IPC2	LMO1	1.696326091	2.29E-10	Transcription factor	BrainSpLMD|4004;BrainSpMouseDev|73752	OMIM|186921;COSMIC||T-ALL, neuroblastoma, neuroblastoma;HPO|4004|Elevated urinary catecholamines, Neoplasm of the nervous system
MGE-IPC2	TUBB	0.482416345	2.63E-10	Cytoskeletal protein	BrainSpLMD|203068	OMIM|191130;HPO|203068|Abnormality of cardiovascular system morphology, Abnormality of the skin, Ataxia, Autosomal dominant inheritance, Blepharophimosis, Brachycephaly, Cerebellar hypoplasia, Cleft palate, Congenital onset, Delayed speech and language development, Edema, Epicanthus, Flat face, Global developmental delay, High palate, Hypertelorism, Hypoplasia of the brainstem, Hypoplastic nipples, Increased number of skin folds, Intellectual disability, Irregular hyperpigmentation, Localized neuroblastoma, Low-set ears, Microcephaly, Motor delay, Narrow mouth, Periorbital fullness, Posteriorly rotated ears, Short neck, Short palpebral fissure, Thickened skin, Wide intermamillary distance
MGE-IPC2	JADE1	1.263151391	4.58E-10	Unclassified	BrainSpLMD|79960	OMIM|610514
MGE-IPC2	E2F7	1.952933079	4.75E-10	Transcription factor	BrainSpLMD|144455;Eurexp|euxassay_011832|cortex, ventricular layer;BrainSpMouseDev|32159	OMIM|612046
MGE-IPC2	ECT2	0.524073777	4.77E-10	Guanine nucleotide exchange factor	BrainSpLMD|1894;Eurexp|euxassay_018792|marginal layer, ventricular layer	OMIM|600586
MGE-IPC2	RAD21	1.139452268	5.23E-10	DNA binding protein	BrainSpLMD|5885	OMIM|606462;COSMIC||AML, endometrium, colorectal, lung, Cornelia de Lange syndrome-4;HPO|5885|Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Clinodactyly of the 5th finger, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downturned corners of mouth, Elbow dislocation, Exostoses, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phenotypic variability, Phthisis bulbi, Premature birth, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Smooth philtrum, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Vesicoureteral reflux, Wide nasal bridge, Widely spaced teeth
MGE-IPC2	TIAM1	0.603206703	6.14E-10	Guanine nucleotide exchange factor	BrainSpLMD|7074;Eurexp|euxassay_006321|epidermis, incisor, molar, naris, olfactory, submandibular gland primordium, thymus primordium, vibrissa;BrainSpMouseDev|21603	OMIM|600687
MGE-IPC2	GINS2	1.409644746	6.31E-10	Unclassified	BrainSpLMD|51659	OMIM|610609
MGE-IPC2	RBL1	1.57131884	6.35E-10	Cell cycle control protein	BrainSpLMD|5933	OMIM|116957
MGE-IPC2	DTL	1.902599094	7.87E-10	Unclassified	BrainSpLMD|51514;Eurexp|euxassay_012578|choroid plexus, ventricular layer	OMIM|610617
MGE-IPC2	MELK	1.405986907	7.93E-10	Serine/threonine kinase	BrainSpLMD|9833;Eurexp|euxassay_018584|4th ventricle, choroid plexus, clavicle, cortex, dorsal root ganglion, facial VII, fundus region, glossopharyngeal IX, hindgut, incisor, left, loop, lumen, mandible, mantle layer, maxilla, metanephros, midgut, molar, naris, olfactory, orbito-sphenoid, pancreas, rectum, renal/urinary system, respiratory, right, stomach, submandibular gland primordium, testis, thymus primordium, trigeminal V, urethra, vagus X, ventral grey horn, ventricular layer, vertebral axis muscle system, vibrissa, vomeronasal organ	OMIM|607025
MGE-IPC2	FRMD5	1.949471135	1.14E-09	Integral membrane protein	BrainSpLMD|84978;Eurexp|euxassay_010946|atrium, bladder, brain, calyces, cervical, cervico-thoracic, collecting ducts, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, left lung, medulla, mesenchyme, mesentery, midgut, molar, oesophagus, olfactory, pancreas, paraxial mesenchyme, pelvis, peritoneal cavity, rectum, retina, right lung, spinal cord, stomach, thoracic, trachea, trigeminal V, urethra, vagus X, ventricle, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|616309
MGE-IPC2	GAPDH	0.332944374	1.15E-09	Enzyme: Dehydrogenase		OMIM|138400
MGE-IPC2	MYBL2	1.154701744	1.45E-09	Transcription factor	BrainSpLMD|4605;Eurexp|euxassay_002836|incisor, integumental system, lobe, marginal layer, skeleton, thymus primordium, ventricular layer, vibrissa;BrainSpMouseDev|17632	OMIM|601415
MGE-IPC2	CTC.260E6.6	2.187318566	1.45E-09			
MGE-IPC2	CCNB2	1.272864908	1.57E-09	Cell cycle control protein	BrainSpLMD|9133;Eurexp|euxassay_004323|axial muscle, ventricular layer	OMIM|602755
MGE-IPC2	CENPC	1.383513095	1.86E-09	DNA binding protein	BrainSpLMD|1060	OMIM|117141
MGE-IPC2	ATAD5	1.061913549	1.89E-09	DNA repair protein	BrainSpLMD|79915;Eurexp|euxassay_013782|cortex, liver, metanephros, ventricular layer	OMIM|609534
MGE-IPC2	MGME1	1.549889792	2.00E-09	Unclassified	BrainSpLMD|92667	OMIM|615076;HPO|92667|Autosomal recessive inheritance, Dysphonia, Dyspnea, Easy fatigability, Elevated serum creatine phosphokinase, Exercise intolerance, Facial palsy, Generalized amyotrophy, Hypergonadotropic hypogonadism, Hyporeflexia, Kyphosis, Nasal speech, Progressive, Progressive external ophthalmoplegia, Proximal amyotrophy, Ptosis, Recurrent infections, Respiratory insufficiency, Spinal deformities, Spinal rigidity
MGE-IPC2	POU3F4	1.102420715	2.30E-09	Transcription factor	BrainSpLMD|5456;BrainSpMouseDev|18757	OMIM|300039;HPO|5456|Conductive hearing impairment, Dilatated internal auditory canal, Progressive sensorineural hearing impairment, Stapes ankylosis, X-linked recessive inheritance
MGE-IPC2	CENPM	1.903361496	2.37E-09	Unclassified	BrainSpLMD|79019	OMIM|610152
MGE-IPC2	HMGN2P6	0.407563193	2.56E-09			
MGE-IPC2	NOSTRIN	1.383973202	2.77E-09	Unclassified	BrainSpLMD|115677	OMIM|607496
MGE-IPC2	ENOSF1	2.162353592	2.78E-09	Enzyme: Ligase	BrainSpLMD|55556	OMIM|607427
MGE-IPC2	MEIS1	1.023815597	2.78E-09	Transcription factor	BrainSpLMD|4211;Eurexp|euxassay_010373|cornea, epithelium, hindgut, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, respiratory, sublingual gland primordium, submandibular gland primordium, trachea, ventricular layer, vibrissa;BrainSpMouseDev|17037	OMIM|601739
MGE-IPC2	TRIM36.IT1	0.931978669	2.85E-09			
MGE-IPC2	ST8SIA5	0.706990064	3.12E-09	Enzyme: Sialyltransferase	BrainSpLMD|29906	OMIM|607162
MGE-IPC2	HNRNPA1	0.369405082	3.16E-09	RNA binding protein	BrainSpLMD|3178	OMIM|164017;HPO|3178|Abnormality of the abdominal musculature, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dyspnea, Elevated alkaline phosphatase, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Limb-girdle muscular dystrophy, Mildly elevated creatine phosphokinase, Muscle cramps, Muscle fiber inclusion bodies, Muscular dystrophy, Myopathy, Neurodegeneration, Pain, Paralysis, Proximal muscle weakness, Respiratory failure, Rimmed vacuoles, Skeletal muscle atrophy, Spasticity, Xerostomia
MGE-IPC2	KIAA1598	0.558586047	3.42E-09			
MGE-IPC2	CENPN	2.140936308	3.46E-09	Unclassified	BrainSpLMD|55839	OMIM|611509
MGE-IPC2	RBBP8	1.686358593	3.71E-09	Transcription regulatory protein	BrainSpLMD|5932	OMIM|604124;HPO|5932|4-5 toe syndactyly, Abnormality of dental enamel, Absent earlobe, Absent fourth finger distal interphalangeal crease, Aggressive behavior, Autosomal recessive inheritance, Cachexia, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Cognitive impairment, Cone-shaped epiphysis, Congenital microcephaly, Convex nasal ridge, Craniosynostosis, Delayed skeletal maturation, Downslanted palpebral fissures, Few cafe-au-lait spots, Glaucoma, Growth delay, Hallux valgus, Heart murmur, Hip dysplasia, Hypospadias, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Microcephaly, Microdontia, Microglossia, Micrognathia, Microphthalmia, Mild global developmental delay, Narrow face, Narrow forehead, Prematurely aged appearance, Prominent nose, Reduced number of teeth, Retrognathia, Sandal gap, Short middle phalanx of the 5th finger, Short stature, Single interphalangeal crease of fifth finger, Small for gestational age, Sparse scalp hair, Thoracic scoliosis
MGE-IPC2	RP13.735L24.1	1.96501776	3.90E-09			
MGE-IPC2	MYBL1	2.057988368	4.62E-09	Transcription regulatory protein	Eurexp|euxassay_019606|adrenal gland, neural retina, olfactory, testis, ventricular layer, vomeronasal organ;BrainSpMouseDev|17631	OMIM|159405
MGE-IPC2	RCC1	1.716717489	4.70E-09	Guanine nucleotide exchange factor	BrainSpLMD|1104;Eurexp|euxassay_000016|lateral wall, liver, lung, mandible, mantle layer, marginal layer, metanephros, palatal shelf, submandibular gland primordium, thymus primordium, trigeminal V, ventricular layer, vibrissa	OMIM|179710
MGE-IPC2	OLA1	1.177306186	5.48E-09	Unclassified	BrainSpLMD|29789	OMIM|611175
MGE-IPC2	LSM3	0.956108035	5.74E-09	RNA binding protein	BrainSpLMD|27258	OMIM|607283
MGE-IPC2	KIF18B	2.168468212	5.75E-09	Unclassified		OMIM|614570
MGE-IPC2	AHI1	1.037303926	8.80E-09	Adapter molecule	BrainSpLMD|54806;Eurexp|euxassay_005590|brain, cervical, cervico-thoracic, glossopharyngeal IX, olfactory, spinal cord, thoracic, trigeminal V;BrainSpMouseDev|32386	SFARI||Autism, No category;OMIM|608894;HPO|54806|Abnormal electroretinogram, Anteverted nares, Apnea, Ataxia, Autosomal recessive inheritance, Biparietal narrowing, Central apnea, Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Enlarged fossa interpeduncularis, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Heterogeneous, Highly arched eyebrow, Intellectual disability, Long face, Low-set ears, Molar tooth sign on MRI, Motor delay, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nystagmus, Oculomotor apraxia, Open mouth, Pigmentary retinopathy, Ptosis, Retinal dystrophy, Stage 5 chronic kidney disease, Visual impairment, Wide nasal bridge
MGE-IPC2	CBX5	0.574990339	8.81E-09	DNA binding protein	BrainSpLMD|23468	OMIM|604478
MGE-IPC2	SLITRK1	1.356814564	9.36E-09	Integral membrane protein	BrainSpLMD|114798;Eurexp|euxassay_012158|axial skeleton, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, rib, skeletal muscle, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|52805	OMIM|609678;HPO|114798|Aggressive behavior, Alopecia, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Echolalia, Hair-pulling, Motor tics, Multifactorial inheritance, Obsessive-compulsive behavior, Phonic tics, Self-mutilation, Sleep disturbance
MGE-IPC2	NCAPD2	1.419555105	9.59E-09	DNA binding protein	BrainSpLMD|9918;Eurexp|euxassay_005651|embryo	OMIM|615638
MGE-IPC2	ARX	0.471604974	1.02E-08	Transcription factor	BrainSpLMD|170302;Eurexp|euxassay_018148|floor plate, floorplate, mantle layer, mesenchyme, ovary, pancreas, paramesonephric duct, skeletal muscle, tarsus, ventricle, ventricular layer;BrainSpMouseDev|11665	SFARI||Autism, No category;OMIM|300382;HPO|170302|Abnormal hair pattern, Abnormality of skin morphology, Abnormality of the hip bone, Agenesis of corpus callosum, Ambiguous genitalia, Broad alveolar ridges, Choreoathetosis, Coarse facial features, Cryptorchidism, Death in infancy, Decreased testicular size, Delayed speech and language development, Developmental regression, Diarrhea, Duane anomaly, Dysarthria, Dysphagia, Dyspnea, Dystonia, EEG abnormality, Epileptic encephalopathy, Feeding difficulties in infancy, Flexion contracture, Focal dystonia, Generalized hirsutism, Generalized hypotonia, Generalized myoclonic seizures, Gliosis, Global developmental delay, Hemiplegia, High forehead, High palate, Hirsutism, Hyperconvex nail, Hyperreflexia, Hypohidrosis, Hypoplasia of penis, Hypospadias, Hypsarrhythmia, Infantile spasms, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Large eyes, Limb dystonia, Limb joint contracture, Lissencephaly, Long philtrum, Long upper lip, Low anterior hairline, Low-set ears, Lower limb spasticity, Malabsorption, Microcephaly, Micrognathia, Micropenis, Muscle stiffness, Muscular hypotonia, Muscular hypotonia of the trunk, Myoclonus, Neonatal hypotonia, Nystagmus, Optic atrophy, Overlapping toe, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Prominent supraorbital ridges, Protruding ear, Renal dysplasia, Rigidity, Scoliosis, Seizures, Severe global developmental delay, Short stature, Spastic tetraplegia, Spasticity, Specific learning disability, Status epilepticus, Strabismus, Synophrys, Tapered finger, Tetraplegia, Thin upper lip vermilion, Triangular face, Ventriculomegaly, Visual impairment, Wide anterior fontanel, Wide nasal bridge, X-linked inheritance, X-linked recessive inheritance
MGE-IPC2	HIRIP3	0.803502311	1.63E-08	Unclassified	BrainSpLMD|8479	OMIM|603365
MGE-IPC2	SKIDA1	1.130627378	1.66E-08	Unclassified	BrainSpLMD|387640;Eurexp|euxassay_003843|alimentary system, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nervous system, renal/urinary system, reproductive system, respiratory system, sensory organ, skeleton, tail, vertebral axis muscle system, visceral organ	
MGE-IPC2	WEE1	1.238183908	1.82E-08	Dual specificity kinase	BrainSpLMD|7465;Eurexp|euxassay_016462|hindgut, lung, midgut, stomach, submandibular gland primordium, ventricular layer	OMIM|193525
MGE-IPC2	CORO1C	0.781242475	2.10E-08	Cytoskeletal associated protein	BrainSpLMD|23603	OMIM|605269
MGE-IPC2	KCNJ2	0.892287514	2.34E-08	Inward rectifier channel	BrainSpLMD|3759;Eurexp|euxassay_013544|mandible, maxilla, olfactory	SFARI||Autism, No category;OMIM|600681;HPO|3759|Antegonial notching of mandible, Atrial fibrillation, Autosomal dominant inheritance, Bidirectional ventricular ectopy, Blepharophimosis, Brachydactyly, Bradycardia, Broad forehead, Bulbous nose, Cleft palate, Clinodactyly of the 5th finger, Clinodactyly of the 5th toe, Delayed eruption of permanent teeth, Delayed skeletal maturation, Depressivity, Facial asymmetry, Growth abnormality, High palate, Hypertelorism, Hypoplasia of dental enamel, Hypoplasia of the maxilla, Joint laxity, Low-set ears, Malar flattening, Microcephaly, Oligodontia, Palpitations, Paroxysmal atrial fibrillation, Periodic hypokalemic paresis, Persistence of primary teeth, Preauricular pit, Prolonged QT interval, Prominent U wave, Prominent frontal sinuses, Scapular winging, Scoliosis, Short foot, Short mandibular rami, Short metacarpal, Short metatarsal, Short palm, Short palpebral fissure, Short phalanx of finger, Shortened QT interval, Slender long bone, Small hand, Syncope, Tachycardia, Thin upper lip vermilion, Toe syndactyly, Triangular face
MGE-IPC2	COX8A	0.595893704	2.35E-08	Enzyme: Oxidoreductase	BrainSpLMD|1351	OMIM|123870
MGE-IPC2	HNRNPH1	0.267358547	2.49E-08	Ribonucleoprotein	BrainSpLMD|3187	OMIM|601035
MGE-IPC2	RP11.384F7.2	1.053047574	2.67E-08			
MGE-IPC2	RDX	0.935493572	3.35E-08	Cytoskeletal associated protein	BrainSpLMD|5962	OMIM|179410;HPO|5962|Autosomal recessive inheritance, Infantile onset, Profound sensorineural hearing impairment
MGE-IPC2	SMC3	0.58492999	3.99E-08	Unclassified	BrainSpLMD|9126;Eurexp|euxassay_000017|cortex, dorsal root ganglion, heart, larynx, lung, rest of mesenchyme, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	SFARI||Autism, 4 - Minimal evidence;OMIM|606062;HPO|9126|Abnormality of the cardiac septa, Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Brachydactyly, Bulbous nose, Clinodactyly of the 5th finger, Cognitive impairment, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downturned corners of mouth, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hirsutism, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Limited elbow movement, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Neurological speech impairment, Obsessive-compulsive behavior, Phenotypic variability, Phthisis bulbi, Poor speech, Premature birth, Prominent nasal bridge, Proximal placement of thumb, Ptosis, Pulmonic stenosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Synophrys, Thick eyebrow, Thick hair, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Vesicoureteral reflux, Widely spaced teeth
MGE-IPC2	H3F3AP4	0.53224853	4.38E-08			
MGE-IPC2	NUDT1	1.287432463	4.39E-08	Enzyme: Hydrolase	BrainSpLMD|4521	OMIM|600312
MGE-IPC2	RFC4	1.131362242	4.69E-08	DNA binding protein	BrainSpLMD|5984	OMIM|102577
MGE-IPC2	MCM8	1.960944643	4.81E-08	DNA binding protein	BrainSpLMD|84515;Eurexp|euxassay_005154|brain, central nervous system, incisor, lung, metanephros, molar, olfactory, retina, stomach, submandibular gland primordium, testis, thymus primordium, thyroid, tongue, vibrissa	OMIM|608187;HPO|84515|Autosomal recessive inheritance, Azoospermia, Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Hypothyroidism, Premature ovarian insufficiency, Primary amenorrhea
MGE-IPC2	CEP192	1.818104578	5.56E-08	Cytoskeletal protein	BrainSpLMD|55125	OMIM|616426
MGE-IPC2	MYO3A	1.384939556	5.66E-08	Structural protein	BrainSpLMD|53904	OMIM|606808;HPO|53904|Autosomal recessive inheritance, Progressive hearing impairment, Progressive sensorineural hearing impairment
MGE-IPC2	PDLIM3	0.992400174	7.74E-08	Unclassified	BrainSpLMD|27295	OMIM|605889
MGE-IPC2	POLE2	1.879415731	7.92E-08	DNA polymerase	BrainSpLMD|5427;Eurexp|euxassay_006546|choroid invagination, choroid plexus, diaphragm, extrinsic, intrinsic, mesenchyme, paraxial mesenchyme, roof plate, vertebral axis muscle system	OMIM|602670
MGE-IPC2	ZNF367	1.546642775	8.13E-08	DNA binding protein	BrainSpLMD|195828	OMIM|610160
MGE-IPC2	WDHD1	1.701258743	8.16E-08	DNA binding protein	BrainSpLMD|11169;Eurexp|euxassay_012406|submandibular gland primordium, thymus primordium, ventricular layer;BrainSpMouseDev|85441	OMIM|608126
MGE-IPC2	LBR	0.954755605	9.24E-08	Integral membrane protein	BrainSpLMD|3930	OMIM|600024;HPO|3930|11 pairs of ribs, Abnormal foot bone ossification, Abnormal joint morphology, Abnormal lung lobation, Abnormal ossification involving the femoral head and neck, Abnormal pelvis bone ossification, Abnormal vertebral ossification, Abnormality of cholesterol metabolism, Abnormality of chromosome segregation, Abnormality of leukocytes, Abnormality of the calcaneus, Abnormality of the gastric mucosa, Abnormality of the scapula, Abnormality of the vertebral spinous processes, Absent or minimally ossified vertebral bodies, Absent toenail, Anterior rib punctate calcifications, Arthritis, Autosomal dominant inheritance, Autosomal recessive inheritance, Barrel-shaped chest, Biliary cirrhosis, Bone marrow hypocellularity, Bowing of the long bones, Brachydactyly, Broad palm, Calcinosis, Calcinosis cutis, Calvarial skull defect, Cardiomegaly, Cystic hygroma, Decreased skull ossification, Depressed nasal bridge, Diaphyseal thickening, Disproportionate short-limb short stature, Dysphagia, Elevated alkaline phosphatase, Elevated hepatic transaminases, Epiphyseal stippling, Extramedullary hematopoiesis, Fatigue, Fever, Flared metaphysis, Gastroesophageal reflux, Gastrointestinal hemorrhage, Global developmental delay, Hepatic calcification, Hepatomegaly, Hepatosplenomegaly, High forehead, Horizontal sacrum, Hyperbilirubinemia, Hypertelorism, Hypoplasia of the maxilla, Hypoplastic fingernail, Hypoplastic vertebral bodies, Hyposegmentation of neutrophil nuclei, Intestinal malrotation, Irregular hyperpigmentation, Jaundice, Keratoconjunctivitis sicca, Laryngeal calcification, Lethal skeletal dysplasia, Lip telangiectasia, Long clavicles, Low-set ears, Lymphedema, Macrocephaly, Malar flattening, Mesomelia, Metaphyseal cupping, Micrognathia, Micromelia, Midface retrusion, Misalignment of teeth, Mucosal telangiectasiae, Multiple prenatal fractures, Myalgia, Narrow chest, Neonatal death, Nonimmune hydrops fetalis, Omphalocele, Palmar telangiectasia, Pancreatic islet-cell hyperplasia, Patchy variation in bone mineral density, Platyspondyly, Pleural effusion, Polydactyly, Polyhydramnios, Postaxial foot polydactyly, Postaxial hand polydactyly, Preeclampsia, Prominent forehead, Pruritus, Pulmonary hypoplasia, Punctate vertebral calcifications, Raynaud phenomenon, Rhizomelia, Sandal gap, Sclerodactyly, Scleroderma, Sclerosis of skull base, Severe hydrops fetalis, Severe short-limb dwarfism, Short diaphyses, Short phalanx of finger, Short ribs, Skin rash, Skin ulcer, Splenomegaly, Steatorrhea, Sternal punctate calcifications, Stillbirth, Supernumerary vertebral ossification centers, Telangiectasia of the skin, Tracheal calcification, Ulnar deviation of the hand, Xerostomia
MGE-IPC2	SP9	1.039967477	9.72E-08		BrainSpLMD|100131390;BrainSpMouseDev|120188	
MGE-IPC2	EFNA5	0.827422654	1.05E-07	Ligand	BrainSpLMD|1946;BrainSpMouseDev|13418	OMIM|601535
MGE-IPC2	MCM6	1.70730733	1.27E-07	Cell cycle control protein	BrainSpLMD|4175	OMIM|601806;HPO|4175|Abdominal pain, Autosomal dominant inheritance, Autosomal recessive inheritance, Decreased small intestinal mucosa lactase activity, Diarrhea, Lactose intolerance
MGE-IPC2	ZBTB20	0.669821444	1.68E-07	Transcription factor	BrainSpLMD|26137;BrainSpMouseDev|35770	SFARI||Autism, 3 - Suggestive evidence;OMIM|606025;HPO|26137|Abnormality of the palate, Absent axillary hair, Absent facial hair, Anemia, Anonychia, Autosomal dominant inheritance, Basilar impression, Bilateral cryptorchidism, Bone cyst, Brachycephaly, Broad forehead, Calcification of the auricular cartilage, Cataract, Conductive hearing impairment, Deeply set eye, Developmental regression, Distal amyotrophy, Downslanted palpebral fissures, Downturned corners of mouth, Gait disturbance, Generalized hypotonia, Generalized osteoporosis, Genu valgum, Gynecomastia, Hearing impairment, Hip contracture, Hydrocephalus, Hypogonadism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Increased size of the mandible, Intellectual disability, Irregular vertebral endplates, Knee flexion contracture, Kyphosis, Macrocephaly, Macrotia, Malar flattening, Metatarsus adductus, Midface retrusion, Myopathy, Narrow chest, Narrow iliac wings, Narrow mouth, Neurodegeneration, Osteolysis, Pectus excavatum, Pes cavus, Plagiocephaly, Posterior polar cataract, Posterior scalloping of vertebral bodies, Ptosis, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Sparse scalp hair, Sporadic, Superiorly displaced ears, Synophrys, Thick lower lip vermilion, Truncal obesity
MGE-IPC2	CLIC4	0.471462379	1.69E-07	Intracellular ligand gated channel	BrainSpLMD|25932	OMIM|606536
MGE-IPC2	SMC1A	0.976388345	1.79E-07	Cell cycle control protein	BrainSpLMD|8243	SFARI||Autism, No category;OMIM|300040;COSMIC||AML, Cornelia de Lange syndrome;HPO|8243|Abnormally low-pitched voice, Anteverted nares, Anxiety, Atresia of the external auditory canal, Attention deficit hyperactivity disorder, Bilateral single transverse palmar creases, Blepharitis, Brachycephaly, Brachydactyly, Clinodactyly, Clinodactyly of the 5th finger, Cognitive impairment, Conductive hearing impairment, Cryptorchidism, Curly eyelashes, Cutis marmorata, Delayed eruption of teeth, Delayed skeletal maturation, Depressed nasal bridge, Downslanted palpebral fissures, Downturned corners of mouth, Elbow dislocation, Failure to thrive, Feeding difficulties in infancy, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, High palate, Highly arched eyebrow, Hirsutism, Hypertonia, Hypoplasia of penis, Hypoplastic labia majora, Hypoplastic nipples, Hypospadias, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint stiffness, Limited elbow movement, Long eyelashes, Long philtrum, Low anterior hairline, Low posterior hairline, Low-set, posteriorly rotated ears, Microcephaly, Microcornea, Micrognathia, Micromelia, Multicystic kidney dysplasia, Myopia, Narrow forehead, Neurological speech impairment, Obsessive-compulsive behavior, Phthisis bulbi, Poor speech, Premature birth, Prominent nasal bridge, Proximal placement of thumb, Ptosis, Radioulnar synostosis, Sensorineural hearing impairment, Severe postnatal growth retardation, Short 1st metacarpal, Short foot, Short neck, Short nose, Short stature, Sleep disturbance, Small hand, Smooth philtrum, Synophrys, Thick eyebrow, Thin upper lip vermilion, Thin vermilion border, Toe syndactyly, Ventriculomegaly, Vesicoureteral reflux, Widely spaced teeth, X-linked dominant inheritance, X-linked recessive inheritance
MGE-IPC2	ADCY3	1.185143697	2.10E-07	Adenylate cyclase	BrainSpLMD|109;Eurexp|euxassay_018616|facial VII, olfactory, trigeminal V, ventral grey horn	SFARI||Autism, 3 - Suggestive evidence;OMIM|600291
MGE-IPC2	FGD3	1.039336956	3.02E-07	Guanine nucleotide exchange factor	BrainSpLMD|89846;Eurexp|euxassay_010184|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vestibulocochlear VIII	OMIM|617554
MGE-IPC2	CCDC88A	0.384723912	3.28E-07	Cytoskeletal protein	BrainSpLMD|55704;Eurexp|euxassay_012890|mantle layer, ventral grey horn	OMIM|609736;HPO|55704|Abnormality of the hand, Autosomal recessive inheritance, Cerebellar atrophy, Developmental stagnation, Edema, Epicanthus, Feeding difficulties in infancy, Full cheeks, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile encephalopathy, Intellectual disability, profound, Myoclonus, Narrow forehead, Neuronal loss in central nervous system, Open mouth, Optic atrophy, Pachygyria, Peripheral dysmyelination, Polymicrogyria, Progressive microcephaly, Retrognathia, Seizures, Severe muscular hypotonia, Short nose, Tented upper lip vermilion, Undetectable visual evoked potentials
MGE-IPC2	PDS5B	0.812873823	3.34E-07	Transcription factor	BrainSpLMD|23047	OMIM|605333
MGE-IPC2	ABAT	0.851611576	3.43E-07	Enzyme: Aminotransferase	BrainSpLMD|18;Eurexp|euxassay_001907|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, thymus primordium, trigeminal V, ventricular layer;BrainSpMouseDev|92603	SFARI||Autism, 4 - Minimal evidence;OMIM|137150;HPO|18|Agenesis of corpus callosum, Autosomal recessive inheritance, Cerebellar hypoplasia, Death in childhood, Downslanted palpebral fissures, Global developmental delay, High-pitched cry, Hyperreflexia, Lethargy, Leukodystrophy, Posterior fossa cyst, Retrognathia, Seizures, Severe muscular hypotonia, Tall stature
MGE-IPC2	YBX1	0.578432342	4.04E-07	Transcription factor	BrainSpLMD|4904	OMIM|154030
MGE-IPC2	CDCA3	0.974908186	4.34E-07	Unclassified	BrainSpLMD|83461;Eurexp|euxassay_004852|cortex, left, marginal layer, mesenchyme, olfactory, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventral grey horn, ventricular layer	OMIM|607749
MGE-IPC2	OLA1P1	0.944902777	5.03E-07			
MGE-IPC2	DNMT1	0.922466912	5.09E-07	DNA methyltransferase	BrainSpLMD|1786;BrainSpMouseDev|13212	OMIM|126375;HPO|1786|Adult onset, Apathy, Ataxia, Autosomal dominant inheritance, Cataplexy, Cerebellar atrophy, Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers, Dementia, Depressivity, Excessive daytime sleepiness, Excessive daytime somnolence, Hyperreflexia, Hyporeflexia, Impulsivity, Irritability, Memory impairment, Narcolepsy, Osteomyelitis, Primitive reflex, Progressive, Sensorineural hearing impairment, Sensory neuropathy, Spasticity
MGE-IPC2	STK39	1.001771697	5.42E-07	Serine/threonine kinase	BrainSpLMD|27347	SFARI||Autism, 4 - Minimal evidence;OMIM|607648
MGE-IPC2	PID1	1.049677925	5.76E-07	Unclassified	BrainSpLMD|55022	OMIM|612930
MGE-IPC2	SRSF10	0.819005657	6.57E-07	RNA binding protein	Eurexp|euxassay_000064|adenohypophysis, cardiac muscle, endocardial lining, limb, vertebral axis muscle system	OMIM|605221
MGE-IPC2	LINC01224	1.876879588	6.92E-07			
MGE-IPC2	PTMAP5	0.522353795	7.11E-07			
MGE-IPC2	EXOSC8	0.87037482	7.12E-07	Ribonuclease	BrainSpLMD|11340	OMIM|606019;HPO|11340|Autosomal recessive inheritance, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Failure to thrive, Feeding difficulties, Global developmental delay, Hearing impairment, Hypoplasia of the corpus callosum, Muscle weakness, Respiratory failure, Spastic tetraparesis, Spinal muscular atrophy, Visual impairment
MGE-IPC2	HIST1H3D	0.673274701	7.47E-07	DNA binding protein	BrainSpLMD|8351	OMIM|602811
MGE-IPC2	MCM7	0.463805351	7.60E-07	Unclassified;DNA helicase	BrainSpLMD|4176;Eurexp|euxassay_018019|embryo	OMIM|600592
MGE-IPC2	SOX1	1.020741029	8.29E-07	Transcription factor	BrainSpLMD|6656;Eurexp|euxassay_019565|ventral grey horn, ventricular layer	OMIM|602148
MGE-IPC2	SPECC1	0.886577208	8.34E-07	Unclassified	BrainSpLMD|92521;Eurexp|euxassay_013924|aorta, liver, molar, ventricular layer	OMIM|608793;COSMIC||JMML
MGE-IPC2	STAG2	1.000885572	8.50E-07	Cell cycle control protein	BrainSpLMD|10735;Eurexp|euxassay_016892|ventricular layer	OMIM|300826;COSMIC||bladder carcinoma, glioblastoma, melanoma, Ewing's sarcoma, myeloid neoplasms
MGE-IPC2	TEAD1	1.222280606	8.85E-07	Transcription factor	BrainSpLMD|7003;BrainSpMouseDev|21437	OMIM|189967;HPO|7003|Astigmatism, Autosomal dominant inheritance, Myopia, Peripapillary chorioretinal atrophy, Slow progression
MGE-IPC2	SYNE2	0.535767531	9.00E-07	Cytoskeletal protein	BrainSpLMD|23224;Eurexp|euxassay_010927|cochlea, metanephros, pericardial cavity, peritoneal cavity, renal/urinary system, utricle, ventricular layer	OMIM|608442;HPO|23224|Arrhythmia, Autosomal dominant inheritance, Cardiomyopathy, Childhood onset, Elevated serum creatine phosphokinase, Muscular dystrophy, Phenotypic variability, Proximal amyotrophy, Proximal muscle weakness, Respiratory insufficiency
MGE-IPC2	TUBBP1	0.411631574	9.74E-07			
MGE-IPC2	CCNA2	1.033509747	9.95E-07	Cell cycle control protein	BrainSpLMD|890	OMIM|123835
MGE-IPC2	CCNF	1.167297102	1.00E-06	Cell cycle control protein	BrainSpLMD|899;Eurexp|euxassay_002325|lobe, ventricular layer	OMIM|600227;HPO|899|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
MGE-IPC2	PTPRE	1.443295523	1.06E-06	Receptor tyrosine phosphatase	BrainSpLMD|5791	OMIM|600926
MGE-IPC2	RSRC1	0.985708138	1.16E-06	Unclassified	BrainSpLMD|51319	OMIM|613352
MGE-IPC2	GAS2L3	0.77437558	1.30E-06	Cytoskeletal protein	BrainSpLMD|283431	OMIM|617224
MGE-IPC2	MASTL	1.767192907	1.33E-06	Unclassified	BrainSpLMD|84930;Eurexp|euxassay_000091|liver, otic capsule, thymus primordium, tooth	OMIM|608221;HPO|84930|Autosomal dominant inheritance, Bruising susceptibility, Thrombocytopenia
MGE-IPC2	ERH	0.683656617	1.41E-06	Transcription regulatory protein	BrainSpLMD|2079;Eurexp|euxassay_018034|orbito-sphenoid, ventricular layer	OMIM|601191
MGE-IPC2	STK17B	1.591886392	1.46E-06	Serine/threonine kinase	BrainSpLMD|9262	OMIM|604727
MGE-IPC2	LIG1	1.001931888	1.52E-06	DNA ligase	BrainSpLMD|3978;Eurexp|euxassay_018504|marginal layer, thymus primordium, ventricular layer	OMIM|126391
MGE-IPC2	KITLG	1.264907944	1.57E-06	Growth factor	BrainSpLMD|4254;Eurexp|euxassay_003584|dorsal root ganglion, glomeruli, mantle layer, marginal layer, naris, neural retina, olfactory, olfactory cortex, stroma, thymus primordium, trachea, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|17080	OMIM|184745;HPO|4254|Autosomal dominant inheritance, Cafe-au-lait spot, Heterochromia iridis, Hyperkeratosis, Hypopigmented skin patches, Infantile onset, Multiple lentigines, Premature graying of hair, Progressive hyperpigmentation, Sensorineural hearing impairment, White forelock
MGE-IPC2	HNRNPA1P10	0.745575335	1.58E-06			
MGE-IPC2	RAP2B	0.367698174	1.60E-06	GTPase	BrainSpLMD|5912;Eurexp|euxassay_002574|vibrissa	OMIM|179541
MGE-IPC2	CENPW	1.245899347	1.62E-06	Unclassified	Eurexp|euxassay_006383|roof plate, telencephalic part of interventricular foramen, thalamus	OMIM|611264
MGE-IPC2	APOLD1	0.718872608	1.77E-06	Unclassified	BrainSpLMD|81575;Eurexp|euxassay_014175|ventricle	OMIM|612456
MGE-IPC2	TIMELESS	1.867239305	1.82E-06	Transcription regulatory protein	BrainSpLMD|8914	OMIM|603887
MGE-IPC2	GABPB1	1.122639376	1.89E-06	Transcription factor	BrainSpLMD|2553;BrainSpMouseDev|14167	OMIM|600610
MGE-IPC2	RN7SL382P	1.124857764	1.92E-06			
MGE-IPC2	DBF4	1.263999545	1.93E-06	Cell cycle control protein	BrainSpLMD|10926;Eurexp|euxassay_012740|ventricular layer	OMIM|604281
MGE-IPC2	GRIK3	0.567144674	2.04E-06	Extracellular ligand gated channel	BrainSpLMD|2899;BrainSpMouseDev|14583	SFARI||Autism, No category;OMIM|138243
MGE-IPC2	PPA2	1.396195212	2.07E-06	Enzyme: Phosphatase	BrainSpLMD|27068	OMIM|609988;HPO|27068|Autosomal recessive inheritance, Bradycardia, Congestive heart failure, Myocardial fibrosis, Myocarditis
MGE-IPC2	MLLT10	0.81576905	2.11E-06	Transcription factor	BrainSpLMD|8028	OMIM|602409;COSMIC||AL
MGE-IPC2	ZGRF1	1.557222079	2.12E-06	Unclassified	BrainSpLMD|55345;Eurexp|euxassay_012482|ventricular layer	
MGE-IPC2	GAD1	0.253050402	2.21E-06	Enzyme: Decarboxylase	BrainSpLMD|2571;Eurexp|euxassay_005634|cerebral cortex, corpus striatum, hindbrain, incisor, mantle layer, marginal layer, molar, olfactory lobe, oral region, spinal cord, telencephalon;BrainSpMouseDev|14191	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605363;HPO|2571|Autosomal recessive inheritance, Babinski sign, Cerebral palsy, Flexion contracture, Global developmental delay, Heterogeneous, Hyperreflexia, Infantile onset, Intellectual disability, Microcephaly, Scoliosis, Seizures, Spastic diplegia, Spastic tetraplegia
MGE-IPC2	SACS	0.747056802	2.23E-06	Unclassified	BrainSpLMD|26278;Eurexp|euxassay_014163|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|604490;HPO|26278|Absent Achilles reflex, Autosomal recessive inheritance, Babinski sign, Cerebellar vermis atrophy, Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Dysmetria, Falls, Hammertoe, Hypermyelinated retinal nerve fibers, Hyperreflexia, Impaired smooth pursuit, Impaired vibration sensation in the lower limbs, Infantile onset, Intellectual disability, Loss of Purkinje cells in the cerebellar vermis, Nystagmus, Pes cavus, Progressive gait ataxia, Progressive truncal ataxia, Scanning speech, Spastic ataxia, Spasticity, Swan neck-like deformities of the fingers, Urinary urgency
MGE-IPC2	TMEM194A	1.641438253	2.46E-06			
MGE-IPC2	DDX39A	1.410524085	2.72E-06	RNA helicase	BrainSpLMD|10212	
MGE-IPC2	RP11.95I19.3	0.490280751	2.86E-06			
MGE-IPC2	AC012358.8	1.332629461	2.89E-06			
MGE-IPC2	HIST1H4I	0.328705676	2.93E-06	DNA binding protein	BrainSpLMD|8294;Eurexp|euxassay_005924|embryo	OMIM|602833;COSMIC||NHL
MGE-IPC2	STARD9	1.707610872	2.99E-06	Unclassified		OMIM|614642
MGE-IPC2	DSN1	1.85982771	3.02E-06	Unclassified	BrainSpLMD|79980;Eurexp|euxassay_001983|ventricular layer	OMIM|609175
MGE-IPC2	GPSM2	1.380627709	3.26E-06	Cell cycle control protein		OMIM|609245;HPO|29899|Arachnoid cyst, Autosomal recessive inheritance, Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus callosum, Gray matter heterotopias, Hydrocephalus, Hypoplasia of the corpus callosum, Large foramen magnum, Partial agenesis of the corpus callosum, Polymicrogyria, Severe sensorineural hearing impairment, Ventriculomegaly
MGE-IPC2	PRIM2	1.268093115	3.41E-06	RNA polymerase	BrainSpLMD|5558;Eurexp|euxassay_018428|incisor, left, marginal layer, molar, orbito-sphenoid, right, submandibular gland primordium, thymus primordium, ventricular layer, vibrissa	OMIM|176636
MGE-IPC2	RAD18	1.644351499	3.42E-06	DNA binding protein	BrainSpLMD|56852	OMIM|605256
MGE-IPC2	POLA1	1.551543799	3.48E-06	DNA polymerase	BrainSpLMD|5422	OMIM|312040;HPO|5422|Abnormality of chromosome stability, Abnormality of metabolism/homeostasis, Amyloidosis, Broad eyebrow, Colitis, Corneal scarring, Cryptorchidism, Diarrhea, Failure to thrive in infancy, Generalized reticulate brown pigmentation, Global developmental delay, Hearing impairment, Hemiplegia, Hyperkeratosis, Hypohidrosis, Hypospadias, Inguinal hernia, Intellectual disability, Leukemia, Neoplasm, Opacification of the corneal stroma, Photophobia, Recurrent infection of the gastrointestinal tract, Recurrent pneumonia, Seizures, Spasticity, Urethral stricture, Visual impairment, Visual loss, X-linked inheritance, X-linked recessive inheritance
MGE-IPC2	H3F3AP6	0.454042368	3.58E-06			
MGE-IPC2	NASP	0.589084672	3.72E-06	Cell cycle control protein	BrainSpLMD|4678;Eurexp|euxassay_016401|marginal layer, metanephros, ventricular layer	OMIM|603185
MGE-IPC2	ZEB2	0.426436488	3.76E-06	Transcription regulatory protein	BrainSpLMD|9839;Eurexp|euxassay_005774|bladder, dorsal grey horn, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, lung, mantle layer, metanephros, midgut, nasal septum, penis, pharyngo-tympanic tube, stomach;BrainSpMouseDev|23887	OMIM|605802;HPO|9839|Abdominal distention, Abnormality of metabolism/homeostasis, Abnormality of the abdominal wall, Abnormality of the rib cage, Absent speech, Atrial septal defect, Autosomal dominant inheritance, Broad eyebrow, Delayed eruption of teeth, Drooling, Generalized hypotonia, Happy demeanor, Hypoplasia of the corpus callosum, Intellectual disability, moderate, Motor delay, Patent ductus arteriosus, Pectus carinatum, Pectus excavatum, Pulmonary artery sling, Pulmonary artery stenosis, Pulmonic stenosis, Supernumerary nipple, Ventricular septal defect, Vomiting, Widely spaced teeth
MGE-IPC2	HNRNPDL	0.332894475	4.00E-06	Ribonucleoprotein	BrainSpLMD|9987	OMIM|607137;HPO|9987|Adult onset, Autosomal dominant inheritance, Cataract, Decreased movement range in interphalangeal joints, Elevated serum creatine phosphokinase, Flexion limitation of toes, Incomplete penetrance, Limb-girdle muscular dystrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyotrophy, Proximal upper limb amyotrophy, Rimmed vacuoles, Shoulder girdle muscle weakness, Slow progression
MGE-IPC2	N4BP2	0.916113557	4.10E-06	DNA binding protein	BrainSpLMD|55728	
MGE-IPC2	CCDC15	1.08922404	4.14E-06	Unclassified	BrainSpLMD|80071	
MGE-IPC2	DLL1	0.303477657	4.44E-06	Calcium binding protein	BrainSpLMD|28514;Eurexp|euxassay_014876|anterior, calyces, diaphragm, extrinsic, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, intrinsic, marginal layer, midgut, olfactory, olfactory lobe, paraxial mesenchyme, rectum, rest of mesenchyme, retina, stomach, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|13167	OMIM|606582
MGE-IPC2	FANCB	1.193426927	4.60E-06	Unclassified	BrainSpLMD|2187	OMIM|300515;HPO|2187|Abnormal vertebral morphology, Abnormality of cardiovascular system morphology, Abnormality of chromosome stability, Abnormality of the optic nerve, Absent radius, Absent thumb, Almond-shaped palpebral fissure, Anal atresia, Anemia, Aplasia/Hypoplasia of the radius, Aqueductal stenosis, Atrioventricular canal defect, Enlarged kidney, Esophageal atresia, Global developmental delay, Growth delay, Hand polydactyly, Hemivertebrae, Hydrocephalus, Hydronephrosis, Hypopigmented skin patches, Hypoplasia of the radius, Intellectual disability, Intrauterine growth retardation, Irregular hyperpigmentation, Leukopenia, Low-set ears, Microcephaly, Microcornea, Phenotypic variability, Polyhydramnios, Proximal placement of thumb, Pyridoxine-responsive sideroblastic anemia, Renal agenesis, Scoliosis, Short humerus, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula, Transposition of the great arteries, Urethral atresia, Ventriculomegaly, X-linked recessive inheritance
MGE-IPC2	CDC20	1.025111773	4.62E-06	Cell cycle control protein	BrainSpLMD|991;Eurexp|euxassay_005724|hypothalamus, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|603618
MGE-IPC2	OPA1	0.479782033	4.80E-06	GTPase	BrainSpLMD|4976	OMIM|605290;HPO|4976|Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of color vision, Achilles tendon contracture, Adductor longus contractures, Apnea, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Babinski sign, Breech presentation, Caesarian section, Central scotoma, Centrocecal scotoma, Cerebellar atrophy, Dysmetria, Feeding difficulties in infancy, Gait disturbance, Hamstring contractures, Horizontal nystagmus, Hyperreflexia, Hypertrophic cardiomyopathy, Impaired pain sensation, Incomplete penetrance, Increased variability in muscle fiber diameter, Insidious onset, Intellectual disability, Motor delay, Muscular hypotonia of the trunk, Myopathy, Nystagmus, Ophthalmoplegia, Opisthotonus, Optic atrophy, Peripheral neuropathy, Phenotypic variability, Profound global developmental delay, Progressive, Progressive sensorineural hearing impairment, Progressive spasticity, Progressive visual loss, Ptosis, Red-green dyschromatopsia, Reduced tendon reflexes, Reduced visual acuity, Retinal degeneration, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Tremor, Tritanomaly, Visual impairment, Weak cry
MGE-IPC2	ZNF704	0.740281937	5.03E-06	Unclassified		
MGE-IPC2	MCM4	0.789264135	5.50E-06	DNA binding protein	BrainSpLMD|4173	SFARI||Autism, 4 - Minimal evidence;OMIM|602638;HPO|4173|Adrenal insufficiency, Autosomal recessive inheritance, Global developmental delay, Hepatomegaly, Intrauterine growth retardation, Lymphadenopathy, Lymphoproliferative disorder, Microcephaly, Postnatal growth retardation, Recurrent respiratory infections, Recurrent viral infections, Splenomegaly
MGE-IPC2	HNRNPA2B1	0.616241387	6.03E-06	Ribonucleoprotein;RNA binding protein	BrainSpLMD|3181	OMIM|600124;COSMIC||prostate;HPO|3181|Abnormality of the skeletal system, Behavioral abnormality, Centrally nucleated skeletal muscle fibers, Elevated serum creatine phosphokinase, Frontotemporal dementia, Muscle fiber atrophy, Muscular dystrophy, Myopathy, Myositis, Skeletal muscle atrophy
MGE-IPC2	HMGB1P41	1.121098473	6.61E-06			
MGE-IPC2	RNASEH2B	1.261425075	6.74E-06	Unclassified	BrainSpLMD|79621;Eurexp|euxassay_004223|4th ventricle, liver, lung, thymus primordium, ventricular layer	OMIM|610326;HPO|79621|Arrhinencephaly, Autosomal recessive inheritance, Basal ganglia calcification, Cerebral atrophy, Chronic CSF lymphocytosis, Cleft eyelid, Encephalopathy, Hemiplegia/hemiparesis, Intellectual disability, profound, Porencephalic cyst, Spasticity, Variable expressivity
MGE-IPC2	NRF1	0.87497148	8.12E-06	DNA binding protein	BrainSpLMD|4899;Eurexp|euxassay_011903|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, scapula, tibia, turbinate bones	OMIM|600879
MGE-IPC2	RAB3IP	1.03417731	8.55E-06	Guanine nucleotide exchange factor;Unclassified	BrainSpLMD|117177;Eurexp|euxassay_007883|calyces, hindgut, loop, stomach	OMIM|608686
MGE-IPC2	PIP5K1B	1.000772329	8.82E-06	Lipid Kinase	BrainSpLMD|8395	OMIM|602745
MGE-IPC2	NPY	0.477693303	8.98E-06	Unclassified	BrainSpLMD|4852;Eurexp|euxassay_000446|basal plate, diencephalon, dorsal grey horn, mantle layer, marginal layer, telencephalon;BrainSpMouseDev|73806	OMIM|162640
MGE-IPC2	HNRNPA1P48	0.400983962	9.21E-06			
MGE-IPC2	INSM1	1.111359596	9.51E-06	Transcription factor	BrainSpLMD|3642;Eurexp|euxassay_019598|adrenal gland, mantle layer, marginal layer, neural retina, olfactory, pancreas, ventricular layer, vomeronasal organ;BrainSpMouseDev|32944	OMIM|600010
MGE-IPC2	CCND2	0.719603043	1.01E-05	Cell cycle control protein	BrainSpLMD|894	OMIM|123833;COSMIC||NHL, CLL;HPO|894|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Congenital onset, Depressed nasal bridge, Global developmental delay, High forehead, Hydrocephalus, Hypertelorism, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Prominent forehead, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
MGE-IPC2	CKAP5	0.703609502	1.01E-05	Cytoskeletal associated protein	BrainSpLMD|9793;Eurexp|euxassay_011048|cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, molar, olfactory, submandibular gland primordium, thoracic, thymus primordium, trachea, trigeminal V, ventricular layer, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|611142
MGE-IPC2	RFC3	1.627497224	1.09E-05	DNA binding protein	BrainSpLMD|5983;Eurexp|euxassay_010694|submandibular gland primordium, ventricular layer	OMIM|600405
MGE-IPC2	CLGN	0.958098529	1.09E-05	Chaperone	BrainSpLMD|1047	OMIM|601858
MGE-IPC2	SIN3A	1.326100915	1.14E-05	Transcription regulatory protein	BrainSpLMD|25942	SFARI||Autism, 4 - Minimal evidence;OMIM|607776;HPO|25942|Abnormality of cardiovascular system morphology, Abnormality of the outer ear, Abnormality of the thorax, Abnormality of the voice, Aggressive behavior, Anisocoria, Anteverted nares, Arachnodactyly, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bilateral single transverse palmar creases, Brachydactyly, Cafe-au-lait spot, Clinodactyly, Congenital diaphragmatic hernia, Conspicuously happy disposition, Cryptorchidism, Cupped ear, Deeply set eye, Delayed speech and language development, Depressed nasal bridge, Developmental regression, Downslanted palpebral fissures, Dysplastic corpus callosum, Epicanthus, Facial asymmetry, Feeding difficulties in infancy, Fine hair, Flared nostrils, Gastrointestinal atresia, Generalized hypotonia, Global developmental delay, Growth delay, Growth hormone deficiency, Hearing impairment, High anterior hairline, High forehead, High palate, High, narrow palate, Highly arched eyebrow, Hyperactivity, Hypermetropia, Hypertelorism, Hypogonadism, Hypoplasia of the corpus callosum, Hypospadias, Immunodeficiency, Inguinal hernia, Intellectual disability, Intellectual disability, mild, Intestinal atresia, Intrauterine growth retardation, Iris coloboma, Joint hyperflexibility, Joint laxity, Long face, Long philtrum, Macrotia, Medial flaring of the eyebrow, Microcephaly, Micropenis, Microphallus, Microphthalmia, Microretrognathia, Muscular hypotonia, Narrow face, Narrow mouth, Nystagmus, Obesity, Open mouth, Phenotypic variability, Polyhydramnios, Prominent nasal bridge, Proximal placement of thumb, Radial deviation of finger, Recurrent infections, Scoliosis, Short nose, Short palm, Short stature, Short thumb, Single transverse palmar crease, Sleep disturbance, Small for gestational age, Smooth philtrum, Sparse and thin eyebrow, Sporadic, Strabismus, Thick lower lip vermilion, Thick nasal alae, Thin vermilion border, Toe syndactyly, Underdeveloped nasal alae, Upslanted palpebral fissure, Ventriculomegaly, Wide nasal bridge, Wide nose, Widely spaced teeth
MGE-IPC2	ZC3H12C	1.369721937	1.14E-05	Unclassified		OMIM|615001
MGE-IPC2	CHAF1A	0.885599064	1.27E-05	Chaperone	BrainSpLMD|10036	OMIM|601246
MGE-IPC2	LMNB1	1.43523668	1.29E-05	Structural protein	BrainSpLMD|4001;Eurexp|euxassay_015910|axial skeleton, incisor, lung, marginal layer, metanephros, sublingual gland primordium, thymus primordium, thyroid, trachea, ventricular layer, vertebral axis muscle system	OMIM|150340;HPO|4001|Abnormal pyramidal signs, Abnormality of the urinary system, Adult onset, Ataxia, Autonomic bladder dysfunction, Autonomic erectile dysfunction, Autosomal dominant inheritance, Babinski sign, Constipation, Corpus callosum atrophy, Decreased sweating due to autonomic dysfunction, Depressivity, Diffuse leukoencephalopathy, Dilatation of the bladder, Gait disturbance, Gliosis, Hyperreflexia, Hypotension, Impotence, Leukodystrophy, Nystagmus, Orthostatic hypotension due to autonomic dysfunction, Personality changes, Progressive, Progressive neurologic deterioration, Pseudobulbar paralysis, Spasticity, Symmetric peripheral demyelination, Tetraparesis, Tremor, Urinary urgency
MGE-IPC2	CASP8AP2	0.900379809	1.32E-05	Adapter molecule	BrainSpLMD|9994;Eurexp|euxassay_002768|calyces, incisor, skeleton, submandibular gland primordium, ventricular layer, vibrissa	OMIM|606880
MGE-IPC2	APBB2	0.624644966	1.34E-05	Adapter molecule	BrainSpLMD|323;Eurexp|euxassay_007659|corpus striatum, mantle layer, nasal septum, neural retina, turbinate bones, ventral grey horn	OMIM|602710
MGE-IPC2	KIAA0922	0.945198743	1.44E-05			
MGE-IPC2	HMGN5	0.886515432	1.45E-05	Transcription regulatory protein	BrainSpLMD|79366;BrainSpMouseDev|30371	OMIM|300385
MGE-IPC2	BAZ1B	0.847230375	1.48E-05	Transcription regulatory protein	BrainSpLMD|9031	OMIM|605681;HPO|9031|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the neck, Anxiety, Arthralgia, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad forehead, Cerebral ischemia, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Dental malocclusion, Depressivity, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Epicanthus, Everted lower lip vermilion, Failure to thrive in infancy, Gait imbalance, Genu valgum, Hallux valgus, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Inguinal hernia, Insomnia, Intellectual disability, Joint stiffness, Kyphosis, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Microcephaly, Microdontia, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Open bite, Overfriendliness, Pelvic kidney, Periorbital edema, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Proteinuria, Protruding ear, Pulmonic stenosis, Redundant skin, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Visual impairment, Wide mouth, Wide nasal bridge
MGE-IPC2	CENPL	0.600155454	1.49E-05	Unclassified	BrainSpLMD|91687	OMIM|611503
MGE-IPC2	HNRNPD	0.529667556	1.50E-05	RNA binding protein	BrainSpLMD|3184	OMIM|601324
MGE-IPC2	CDH2	0.475094668	1.53E-05	Adhesion molecule	BrainSpLMD|1000;Eurexp|euxassay_003128|L1, L2, L3, L4, L5, Meckel's cartilage, annulus fibrosus, axial skeleton, basisphenoid bone, brain, cervical, cervico-thoracic, chondrocranium, cortex, cranium, dorsal root ganglion, epidermis, exoccipital bone, facial VII, foregut-midgut junction, forelimb, frontal bone primordium, glossopharyngeal IX, head mesenchyme, hindgut, hindlimb, incisor, leg, lip, lumbar region, mesenchyme, midgut, molar, neural retina, nucleus polposus, nucleus pulposus, olfactory, orbito-sphenoid, penis, pituitary, rib, sacral region, skin, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|12343	OMIM|114020
MGE-IPC2	HMGN2P4	0.38953138	1.65E-05			
MGE-IPC2	TMX1	0.671616575	1.66E-05	Enzyme: Oxidoreductase	BrainSpLMD|81542	OMIM|610527
MGE-IPC2	ARID1A	0.652374841	1.76E-05	RNA binding protein	BrainSpLMD|8289;Eurexp|euxassay_019588|incisor, lung, metanephros, molar, olfactory, pharyngo-tympanic tube, submandibular gland primordium, thymus primordium, thyroid, vibrissa, vomeronasal organ	OMIM|603024;COSMIC||clear cell ovarian carcinoma, RCC, breast;HPO|8289|Abnormality of cardiovascular system morphology, Abnormality of the dentition, Abnormality of the pinna, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalanx of the 5th finger, Aplasia/Hypoplasia of the patella, Autosomal dominant inheritance, Brachydactyly, Coarse facial features, Cryptorchidism, Dandy-Walker malformation, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Depressed nasal ridge, Elbow dislocation, Feeding difficulties in infancy, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Hearing impairment, Hypertrichosis, Hypoplastic fifth fingernail, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Long eyelashes, Low anterior hairline, Macroglossia, Microcephaly, Muscular hypotonia, Nystagmus, Recurrent respiratory infections, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Slow-growing hair, Small nail, Strabismus, Thick eyebrow, Thick lower lip vermilion, Visual impairment, Wide mouth, Wide nasal bridge, Wide nose
MGE-IPC2	PIK3R3	1.014777263	1.76E-05	Adapter molecule	BrainSpLMD|8503	OMIM|606076
MGE-IPC2	RYBP	1.242545799	1.83E-05	Transcription regulatory protein	BrainSpLMD|23429;Eurexp|euxassay_019658|mantle layer, olfactory, vibrissa, vomeronasal organ;BrainSpMouseDev|35633	OMIM|607535
MGE-IPC2	RP11.386M24.4	0.373532961	1.92E-05			
MGE-IPC2	HP08942	0.877253917	2.01E-05			
MGE-IPC2	ZNF92	1.230988066	2.28E-05	Transcription regulatory protein	BrainSpLMD|168374	OMIM|603974
MGE-IPC2	E2F3	0.888488045	2.30E-05	Transcription factor	BrainSpLMD|1871;BrainSpMouseDev|13336	OMIM|600427
MGE-IPC2	CDK5RAP2	0.818586838	2.51E-05	Cell cycle control protein	BrainSpLMD|55755	OMIM|608201;HPO|55755|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, moderate, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Small cerebral cortex, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-IPC2	HAT1	0.492720575	2.80E-05	Enzyme: Acyltransferase	BrainSpLMD|8520;Eurexp|euxassay_015562|brain, cerebral cortex, diencephalon, forebrain, hindbrain, liver, lung, medullary region, midbrain, optic II, optic stalk, telencephalon, testis, thymus primordium	OMIM|603053
MGE-IPC2	DST	0.371780007	3.16E-05	Cytoskeletal associated protein	BrainSpLMD|667;Eurexp|euxassay_016245|incisor, molar, oesophagus, olfactory, oral epithelium, stomach, urethra, vibrissa;BrainSpMouseDev|13297	SFARI||Autism, 4 - Minimal evidence;OMIM|113810;HPO|667|Alacrima, Apnea, Areflexia, Atrophic scars, Autosomal recessive inheritance, Blotching pigmentation of the skin, Bradycardia, Corneal scarring, Feeding difficulties, Fever, Flexion contracture, Growth delay, Hand clenching, Hyperhidrosis, Limited hip extension, Neonatal hypotonia, Open mouth, Respiratory insufficiency, Sensory neuropathy, Tachycardia, Talipes equinovarus
MGE-IPC2	TMSB4XP8	0.363632772	3.23E-05	Cytoskeletal associated protein		
MGE-IPC2	GEN1	1.590922375	3.23E-05	DNA binding protein	BrainSpLMD|348654	OMIM|612449
MGE-IPC2	ZNF680	1.087881815	3.28E-05	DNA binding protein	BrainSpLMD|340252	
MGE-IPC2	CDK2	1.200369286	3.31E-05	Cell cycle control protein	BrainSpLMD|1017	OMIM|116953
MGE-IPC2	MSI2	0.726886409	3.37E-05	RNA binding protein	BrainSpLMD|124540	OMIM|607897;COSMIC||CML
MGE-IPC2	RP11.175B9.3	0.90988995	3.40E-05			
MGE-IPC2	NEK2	1.129005594	3.58E-05	Serine/threonine kinase	BrainSpLMD|4751	OMIM|604043;HPO|4751|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
MGE-IPC2	DHFR	1.185010268	3.95E-05	Enzyme: Oxidoreductase		OMIM|126060;HPO|1719|Absence seizures, Ataxia, Autosomal recessive inheritance, Cerebral atrophy, Delayed myelination, Eyelid myoclonus, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hepatomegaly, Jaundice, Megaloblastic anemia, Pallor, Pancytopenia, Poor head control, Postnatal microcephaly, Thrombocytopenia, Variable expressivity
MGE-IPC2	TMEM237	1.018680855	4.09E-05	Unclassified	BrainSpLMD|65062	OMIM|614423;HPO|65062|Apnea, Ataxia, Autistic behavior, Autosomal recessive inheritance, Biparietal narrowing, Blindness, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Coloboma, Dandy-Walker malformation, Deeply set eye, Downslanted palpebral fissures, Encephalocele, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, High forehead, Highly arched eyebrow, Hydrocephalus, Hypertelorism, Hypertension, Intellectual disability, Intellectual disability, severe, Iris coloboma, Irritability, Long face, Low-set ears, Low-set, posteriorly rotated ears, Malar flattening, Microphthalmia, Molar tooth sign on MRI, Morning glory anomaly, Muscular hypotonia, Nephropathy, Nystagmus, Oculomotor apraxia, Open mouth, Postaxial polydactyly, Posteriorly rotated ears, Prominent nasal bridge, Ptosis, Renal cyst, Retinal dystrophy, Short philtrum, Strabismus, Tachypnea, Tented upper lip vermilion
MGE-IPC2	IGF2BP1	1.166012563	4.13E-05	RNA binding protein	BrainSpLMD|10642;Eurexp|euxassay_000116|capsule, cortex, lens, mesenchyme, metanephros, physiological umbilical hernia, retina	OMIM|608288
MGE-IPC2	TOP2B	0.477644711	4.15E-05	Enzyme: Topoisomerase	BrainSpLMD|7155	OMIM|126431
MGE-IPC2	NUP155	0.699068058	4.19E-05	Transport/cargo protein	BrainSpLMD|9631	OMIM|606694;HPO|9631|Atrial fibrillation, Atrial flutter, Autosomal recessive inheritance
MGE-IPC2	SPOPL	0.820384117	4.33E-05	Unclassified	BrainSpLMD|339745	
MGE-IPC2	AASS	0.597451976	4.36E-05	Enzyme: Oxidoreductase;Enzyme: Synthase	BrainSpLMD|10157	OMIM|605113;HPO|10157|Abnormality of the genitourinary system, Anemia, Autosomal recessive inheritance, Cognitive impairment, Delayed speech and language development, EEG abnormality, Ectopia lentis, Histidinuria, Hyperactivity, Hyperlysinemia, Hyperlysinuria, Infantile onset, Intellectual disability, Intellectual disability, mild, Muscular hypotonia, Phenotypic variability, Seizures, Short attention span, Short stature, Spastic diplegia
MGE-IPC2	LRP6	0.805488377	4.41E-05	Structural protein	BrainSpLMD|4040;Eurexp|euxassay_018221|lung, nasal septum, otic capsule, submandibular gland primordium, trachea, vibrissa;BrainSpMouseDev|16744	OMIM|603507;HPO|4040|Agenesis of permanent teeth, Autosomal dominant inheritance, Hypoplasia of the maxilla, Microdontia, Micrognathia, Oligodontia
MGE-IPC2	WHSC1	1.108741659	4.44E-05			
MGE-IPC2	TK1	1.235383054	4.51E-05	Enzyme: Phosphotransferase	BrainSpLMD|7083;Eurexp|euxassay_001974|thymus primordium	OMIM|188300
MGE-IPC2	BRD7	1.166557929	4.53E-05	Transcription factor		
MGE-IPC2	RBBP4	0.465849444	4.61E-05	Transcription regulatory protein	BrainSpLMD|5928	OMIM|602923
MGE-IPC2	KLHL13	1.093461506	4.70E-05	Cytoskeletal associated protein	BrainSpLMD|90293;Eurexp|euxassay_010975|diaphragm, footplate, handplate, mantle layer, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, vertebral axis muscle system	OMIM|300655
MGE-IPC2	BAZ1A	1.033343121	4.72E-05	DNA binding protein	BrainSpLMD|11177	OMIM|605680
MGE-IPC2	ZSWIM5	1.026998399	4.74E-05	Unclassified		SFARI||Autism, 6 - Evidence does not support role
MGE-IPC2	H2AFZP3	0.754805701	4.93E-05			
MGE-IPC2	MAD2L2	1.029237741	4.98E-05	Cell cycle control protein	BrainSpLMD|10459;Eurexp|euxassay_003427|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, penis, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|604094;HPO|10459|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Bone marrow hypocellularity, Elevated alpha-fetoprotein, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Neutropenia, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia
MGE-IPC2	DTYMK	0.935684809	5.05E-05	Enzyme: Phosphotransferase	Eurexp|euxassay_003137|chondrocranium, incisor, molar, pancreas, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|188345
MGE-IPC2	MBIP	0.83836256	5.10E-05	Unclassified	BrainSpLMD|51562;Eurexp|euxassay_005376|lung	OMIM|609431
MGE-IPC2	CCDC150	1.312623311	5.13E-05	Cytoskeletal protein	BrainSpLMD|284992	
MGE-IPC2	HNRNPU	0.474936577	5.24E-05	Ribonucleoprotein	BrainSpLMD|3192	SFARI||Autism, 4 - Minimal evidence;OMIM|602869;HPO|3192|Abnormality of the cardiac septa, Agenesis of corpus callosum, Autosomal dominant inheritance, Delayed myelination, Delayed speech and language development, EEG abnormality, Epicanthus, Epileptic encephalopathy, Exaggerated cupid's bow, Generalized hypotonia, Generalized tonic-clonic seizures, Global developmental delay, Hypertelorism, Infantile onset, Intellectual disability, Intellectual disability, severe, Microcephaly, Micrognathia, Muscular hypotonia, Seizures, Short stature, Smooth philtrum, Strabismus, Telecanthus, Thin vermilion border, Upslanted palpebral fissure, Ventriculomegaly
MGE-IPC2	HADH	0.99231771	5.34E-05	Enzyme: Dehydrogenase	BrainSpLMD|3033;Eurexp|euxassay_018543|adrenal gland, liver, lung, midgut, orbito-sphenoid, stomach, sublingual gland primordium, testis, thymus primordium, thyroid, trachea, turbinate, ventricular layer	OMIM|601609;HPO|3033|Abnormality of acetylcarnitine metabolism, Autosomal recessive inheritance, Confusion, Decreased activity of 3-hydroxyacyl-CoA dehydrogenase, Diarrhea, Dicarboxylic aciduria, Dilated cardiomyopathy, Elevated hepatic transaminases, Fasting hyperinsulinemia, Feeding difficulties in infancy, Fulminant hepatic failure, Growth delay, Hepatic necrosis, Hepatic steatosis, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, Hypoglycemic coma, Hypoglycemic encephalopathy, Hypoglycemic seizures, Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level, Intellectual disability, Intrauterine growth retardation, Lethargy, Muscular hypotonia, Myoglobinuria, Neonatal hypoglycemia, Neonatal hypotonia, Phenotypic variability, Proportionate short stature, Vomiting
MGE-IPC2	GAPDHP1	0.442889663	6.03E-05			
MGE-IPC2	NUP62	0.817542667	6.33E-05	Transport/cargo protein	BrainSpLMD|23636	OMIM|605815;HPO|23636|Autosomal recessive inheritance, Choreoathetosis, Developmental regression, Developmental stagnation, Dysphagia, Dystonia, Failure to thrive, Intellectual disability, Optic atrophy, Pendular nystagmus, Spasticity
MGE-IPC2	ILF2	0.543292044	6.59E-05	Transcription factor	BrainSpLMD|3608;Eurexp|euxassay_003141|cervical, cervico-thoracic, chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, submandibular gland primordium, thoracic, trigeminal V, vestibulocochlear VIII, vibrissa	SFARI||Autism, 2 - Strong candidate;OMIM|603181
MGE-IPC2	TUBAP2	0.292698379	6.78E-05			
MGE-IPC2	GLYATL1P2	1.06942561	7.30E-05			
MGE-IPC2	DSEL	0.74508997	7.37E-05	Enzyme: Sulphotransferase	BrainSpLMD|92126	OMIM|611125
MGE-IPC2	RP11.110G21.2	0.580644333	7.49E-05			
MGE-IPC2	XRCC2	1.258532021	7.67E-05	DNA binding protein	BrainSpLMD|7516	OMIM|600375;HPO|7516|Abnormality of chromosome stability, Absent scaphoid, Almond-shaped palpebral fissure, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Global developmental delay, Growth delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Patent ductus arteriosus, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia
MGE-IPC2	MND1	1.179239032	7.74E-05	Unclassified	BrainSpLMD|84057	OMIM|611422
MGE-IPC2	TMSB4X	0.351307828	7.97E-05	Cytoskeletal associated protein		OMIM|300159
MGE-IPC2	VPS13B	0.680902226	8.11E-05	Transport/cargo protein	BrainSpLMD|157680	SFARI||Autism, No category;OMIM|607817;HPO|157680|Abnormality of skin pigmentation, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Autosomal recessive inheritance, Cat cry, Cerebellar hypoplasia, Childhood-onset truncal obesity, Chorioretinal dystrophy, Clinodactyly of the 5th finger, Convex nasal ridge, Cubitus valgus, Decreased fetal movement, Delayed puberty, Downslanted palpebral fissures, Facial hypotonia, Failure to thrive in infancy, Feeding difficulties in infancy, Finger syndactyly, Generalized hypotonia, Genu valgum, Gingival overgrowth, Global developmental delay, Growth hormone deficiency, High, narrow palate, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Intellectual disability, Intrauterine growth retardation, Joint hyperflexibility, Joint hypermobility, Laryngomalacia, Leukopenia, Long eyelashes, Low anterior hairline, Lumbar hyperlordosis, Macrodontia, Macrodontia of permanent maxillary central incisor, Microcephaly, Micrognathia, Mitral valve prolapse, Motor delay, Muscular hypotonia, Myopia, Narrow palm, Neonatal hypotonia, Neurological speech impairment, Neutropenia, Obesity, Open mouth, Optic atrophy, Pes planus, Prominent nasal bridge, Reduced number of teeth, Reduced visual acuity, Sandal gap, Seizures, Short metacarpal, Short metatarsal, Short philtrum, Short stature, Single transverse palmar crease, Slender toe, Small for gestational age, Tapered finger, Thick corpus callosum, Thick eyebrow, Thick hair, Thoracic scoliosis, Visual impairment, Weak cry
MGE-IPC2	CDKN3	0.957880104	8.13E-05	Dual specificity phosphatase	BrainSpLMD|1033;Eurexp|euxassay_014422|axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, orbito-sphenoid, pelvic girdle, temporal bone, tibia, turbinate, vault of skull	OMIM|123832
MGE-IPC2	SMARCA5	0.503950302	8.31E-05	DNA binding protein	BrainSpLMD|8467;Eurexp|euxassay_019564|olfactory	OMIM|603375
MGE-IPC2	ITGB3BP	1.058305341	8.69E-05	Transcription regulatory protein	BrainSpLMD|23421	OMIM|605494
MGE-IPC2	SAE1	1.185590243	8.97E-05	Enzyme: Ligase	BrainSpLMD|10055;Eurexp|euxassay_005976|embryo	SFARI||Autism, No category;OMIM|613294
MGE-IPC2	C18orf54	1.235371007	9.06E-05	Unclassified		OMIM|613258
MGE-IPC2	OSBPL11	1.091110172	9.24E-05	Transport/cargo protein	BrainSpLMD|114885	OMIM|606739
MGE-IPC2	FBLN1	1.034638382	9.25E-05	Extracellular matrix protein	BrainSpLMD|2192;Eurexp|euxassay_011935|bladder, meninges, mesenchyme, midgut, nasal cavity, stomach, valve	OMIM|135820;HPO|2192|Autosomal dominant inheritance, Carpal synostosis, Metacarpal synostosis, Metatarsal synostosis, Polydactyly, Tarsal synostosis, Toe syndactyly
MGE-IPC2	LSAMP	0.383275861	9.33E-05	Adhesion molecule	BrainSpLMD|4045	OMIM|603241
MGE-IPC2	IFT122	1.274431566	9.57E-05	Unclassified	BrainSpLMD|55764;Eurexp|euxassay_011142|choroid plexus, dorsal root ganglion, metanephros, olfactory, pituitary, testis	OMIM|606045;HPO|55764|Abnormal diaphysis morphology, Abnormal toenail morphology, Abnormality of the abdominal wall, Abnormality of the fingernails, Abnormality of the metaphysis, Anodontia, Anteverted nares, Autosomal recessive inheritance, Bicuspid aortic valve, Brachydactyly, Broad distal phalanges of all fingers, Broad toe, Chronic kidney disease, Clinodactyly, Craniosynostosis, Dolichocephaly, Ectodermal dysplasia, Epicanthus, Everted lower lip vermilion, Fibular hypoplasia, Fine hair, Finger syndactyly, Flattened epiphysis, Frontal bossing, Full cheeks, Hepatic cysts, Hepatic failure, Hepatic fibrosis, Hepatomegaly, High, narrow palate, Hypocalcemia, Hypodontia, Hypoplasia of dental enamel, Hypotelorism, Joint hyperflexibility, Joint laxity, Malformation of the hepatic ductal plate, Microdontia, Myopia, Narrow chest, Nystagmus, Osteoporosis, Pectus excavatum, Prominent occiput, Protuberant abdomen, Radial deviation of finger, Renal magnesium wasting, Retinal dystrophy, Rhizomelia, Sagittal craniosynostosis, Scaphocephaly, Short distal phalanx of finger, Short humerus, Short nail, Short ribs, Short toe, Single transverse palmar crease, Slow-growing hair, Sparse hair, Telecanthus, Thin nail, Tubulointerstitial nephritis, Wide nasal bridge, Widely spaced teeth
MGE-IPC2	TMEM209	0.943762948	9.58E-05	Integral membrane protein	BrainSpLMD|84928;Eurexp|euxassay_004682|ventricular layer	
MGE-IPC2	NUP205	1.424117725	0.000100575	Unclassified		OMIM|614352;HPO|23165|Autosomal recessive inheritance, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome
MGE-IPC2	TICRR	1.660510424	0.000103601	Unclassified	BrainSpLMD|90381	OMIM|613298
MGE-IPC2	H1F0	0.801224191	0.000107489	DNA binding protein	BrainSpLMD|3005;Eurexp|euxassay_006503|embryo	OMIM|142708
MGE-IPC2	BUB3	0.686675992	0.000116182	Cell cycle control protein	BrainSpLMD|9184;Eurexp|euxassay_004484|hindbrain, lateral wall, mantle layer, saccule, utricle	OMIM|603719;HPO|9184|Abnormality of vision, Ascites, Cataract, Corneal opacity, Dandy-Walker malformation, Epicanthus, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Polyhydramnios, Short stature, Triangular face
MGE-IPC2	CNTRL	0.882790578	0.000128268	Unclassified	BrainSpLMD|11064;Eurexp|euxassay_016548|ventricular layer;BrainSpMouseDev|26666	OMIM|605496;COSMIC||MPN, NHL
MGE-IPC2	PROM1	0.489885663	0.000128459	Integral membrane protein	BrainSpLMD|8842;BrainSpMouseDev|18889	OMIM|604365;HPO|8842|Abnormal electroretinogram, Abnormality of color vision, Abnormality of macular pigmentation, Abnormality of retinal pigmentation, Abnormality of the choroid, Abnormality of the fovea, Abnormality of the retinal vasculature, Abnormality of the testis, Abnormality of visual evoked potentials, Anteverted nares, Aplasia/Hypoplasia of the macula, Atypical scarring of skin, Autosomal dominant inheritance, Autosomal recessive inheritance, Blindness, Cataract, Central scotoma, Conductive hearing impairment, Cone/cone-rod dystrophy, Dyschromatopsia, Glaucoma, Granular macular appearance, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Macular degeneration, Macular dystrophy, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paroxysmal involuntary eye movements, Perifoveal ring of hyperautofluorescence, Peripheral visual field loss, Photophobia, Progressive night blindness, Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Retinal thinning, Rod-cone dystrophy, Sensorineural hearing impairment, Undetectable electroretinogram, Wide nasal bridge, Yellow/white lesions of the macula
MGE-IPC2	BCL11B	0.352969962	0.000143318	Transcription regulatory protein;DNA binding protein	BrainSpLMD|64919;BrainSpMouseDev|37240	OMIM|606558;COSMIC||T-ALL;HPO|64919|Absent speech, Autosomal dominant inheritance, Congenital onset, Generalized hypotonia, Global developmental delay, Hirsutism, Hypertelorism, Inflammatory abnormality of the skin, Intellectual disability, Micrognathia, Natal tooth, Pulmonary artery stenosis, Seizures, Severe combined immunodeficiency, Short palpebral fissure, Spastic tetraplegia, Umbilical hernia, Wormian bones
MGE-IPC2	ZNF90	0.555408434	0.000151106	Transcription regulatory protein		OMIM|603973
MGE-IPC2	MDK	0.445445748	0.000154836	Cytokine	BrainSpLMD|4192;Eurexp|euxassay_000525|anal region, gut, head mesenchyme, lung, mesenchyme, metanephros, penis, physiological umbilical hernia, spleen primordium, trunk mesenchyme, ventricular layer	OMIM|162096
MGE-IPC2	MPHOSPH9	1.556470034	0.000163193	Cell cycle control protein	BrainSpLMD|10198	OMIM|605501
MGE-IPC2	CDCA7L	1.235867498	0.000167765	Transcription factor	BrainSpLMD|55536;Eurexp|euxassay_003467|adenohypophysis, epidermis, fundus region, glomeruli, hindgut, left lung, lobe, lumen, lung, marginal layer, midgut, neural retina, oesophagus, olfactory, pancreas, pharyngo-tympanic tube, respiratory, right lung, stomach, submandibular gland primordium, testis, thymus primordium, trachea, urethra, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|85297	OMIM|609685
MGE-IPC2	NPAT	0.862020438	0.00017454	Cell cycle control protein	BrainSpLMD|4863	OMIM|601448
MGE-IPC2	CCAR1	0.649681839	0.000177796	Cell cycle control protein	BrainSpLMD|55749	OMIM|612569
MGE-IPC2	CCNT1	0.416894569	0.000199611	Cell cycle control protein	BrainSpLMD|904	OMIM|143055
MGE-IPC2	MRE11A	0.718986605	0.00022873			
MGE-IPC2	CXXC4	0.755342431	0.000232495	Unclassified	BrainSpLMD|80319;Eurexp|euxassay_008607|bladder, brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, head mesenchyme, incisor, larynx, medullary stroma, mesenchyme, midgut, molar, naris, neural retina, oesophagus, olfactory, pancreas, pelvic girdle, skeletal muscle, spinal cord, stomach, thoracic, thymus primordium, thyroid, trachea, trigeminal V, trunk mesenchyme, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|106413	OMIM|611645
MGE-IPC2	PIN4P1	1.023433321	0.000244862			
MGE-IPC2	HAUS1	0.973036142	0.00024667	Cell cycle control protein	BrainSpLMD|115106;Eurexp|euxassay_003161|chondrocranium, cortex, incisor, lobe, oesophagus, pancreas, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|608775
MGE-IPC2	SCLT1	0.732723223	0.000259377	Adapter molecule	BrainSpLMD|132320	OMIM|611399
MGE-IPC2	HNRNPR	0.6094951	0.000262876	RNA binding protein	BrainSpLMD|10236	OMIM|607201
MGE-IPC2	CHD6	0.396119414	0.00026386	DNA binding protein	BrainSpLMD|84181	OMIM|616114
MGE-IPC2	RPS10	2.145242154	0.000273374	Ribosomal subunit	Eurexp|euxassay_005918|embryo	OMIM|603632;HPO|6204|Abnormality of the genital system, Abnormality of the hand, Abnormality of the urinary system, Anemia, Arrhythmia, Autosomal dominant inheritance, Cleft palate, Delayed puberty, Fatigue, Growth delay, Macrocytic anemia, Migraine, Pallor, Vitamin D deficiency
MGE-IPC2	SP1	0.793865872	0.00029445	Transcription factor	BrainSpLMD|6667	OMIM|189906
MGE-IPC2	LIN9	1.246297192	0.00029982	Transcription regulatory protein	BrainSpLMD|286826;Eurexp|euxassay_006443|ventricular layer	OMIM|609375
MGE-IPC2	RIF1	0.644070302	0.00030135	DNA binding protein	BrainSpLMD|55183	OMIM|608952
MGE-IPC2	TMEM126B	0.566419376	0.00030975	Unclassified	BrainSpLMD|55863	OMIM|615533;HPO|55863|Abnormal mitochondria in muscle tissue, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Optic disc pallor, Phenotypic variability, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
MGE-IPC2	RGS12	0.535327023	0.000335777	GTPase activating protein	BrainSpLMD|6002	OMIM|602512
MGE-IPC2	TSC22D2	0.447642566	0.000344476	Unclassified	BrainSpLMD|9819	OMIM|617724
MGE-IPC2	RP11.589F5.4	1.124976686	0.000361605			
MGE-IPC2	NUP160	0.75717012	0.000376753	Transport/cargo protein	BrainSpLMD|23279	OMIM|607614
MGE-IPC2	SFMBT1	1.116359193	0.000379454	Transcription regulatory protein	BrainSpLMD|51460	OMIM|607319
MGE-IPC2	DCLK2	0.635877907	0.000388725	Serine/threonine kinase	BrainSpLMD|166614;Eurexp|euxassay_009796|associated mesenchyme, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nasal cavity, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613166
MGE-IPC2	ATF7IP	0.75869339	0.000389617	Transcription regulatory protein	BrainSpLMD|55729	OMIM|613644
MGE-IPC2	RP11.1023L17.1	0.555212194	0.000399306			
MGE-IPC2	CLIC1	0.677312616	0.000401328	Intracellular ligand gated channel	BrainSpLMD|1192	OMIM|602872
MGE-IPC2	HN1L	1.453827893	0.000418885			
MGE-IPC2	ING3	0.488097223	0.000438113	Cell cycle control protein	BrainSpLMD|54556	OMIM|607493
MGE-IPC2	PBRM1	0.595084162	0.000451774	Regulatory/other subunit	BrainSpLMD|55193;BrainSpMouseDev|42766	OMIM|606083;COSMIC||clear cell renal carcinoma, breast
MGE-IPC2	NONO	0.685219337	0.000483943	RNA binding protein	BrainSpLMD|4841;Eurexp|euxassay_006509|embryo	OMIM|300084;COSMIC||papillary renal;HPO|4841|Aggressive behavior, Ataxia, Dental crowding, Frontal bossing, Generalized hypotonia, Hallux valgus, High, narrow palate, Increased head circumference, Intellectual disability, Joint laxity, Kyphosis, Left ventricular noncompaction, Long face, Malar flattening, Mild global developmental delay, Motor delay, Myopia, Narrow mouth, Nasal speech, Neonatal hypotonia, Open mouth, Patent ductus arteriosus, Patent foramen ovale, Perseveration, Pes planus, Prominent nose, Right ventricular hypertrophy, Scoliosis, Seizures, Slender build, Strabismus, Thickened calvaria, Tremor, Upslanted palpebral fissure, Ventricular septal defect, X-linked recessive inheritance
MGE-IPC2	CTCF	0.679424235	0.000497935	Transcription regulatory protein	BrainSpLMD|10664	SFARI||Autism, 3 - Suggestive evidence;OMIM|604167;COSMIC||endometrial, breast, head and neck cancer, Mental retardation, autosomal dominant 21;HPO|10664|Abnormality of the dentition, Autosomal dominant inheritance, Cryptorchidism, Feeding difficulties, Generalized hypotonia, Global developmental delay, Hypermetropia, Intellectual disability, Microcephaly, Short stature, Strabismus, Thin vermilion border
MGE-IPC2	TTK	1.412981244	0.000507412	Dual specificity kinase	BrainSpLMD|7272	OMIM|604092
MGE-IPC2	FBXW7	0.399825473	0.000515464	Ubiquitin proteasome system protein	BrainSpLMD|55294;BrainSpMouseDev|30242	OMIM|606278;COSMIC||colorectal, endometrial, T-ALL
MGE-IPC2	PTMAP2	0.260234661	0.000541647			
MGE-IPC2	MTRNR2L10	0.332958502	0.000543182			
MGE-IPC2	ASF1A	0.954199381	0.000545305	Chaperone	BrainSpLMD|25842;Eurexp|euxassay_006843|cortex, incisor, left lung, marginal layer, oesophagus, right lung, submandibular gland primordium, thymus primordium, thyroid, ventricular layer, vibrissa	OMIM|609189
MGE-IPC2	TULP3	1.040791355	0.000586672	Transcription regulatory protein	BrainSpLMD|7289	OMIM|604730
MGE-IPC2	KAT2B	0.863235062	0.000606256	Transcription regulatory protein	BrainSpLMD|8850	SFARI||Autism, 2 - Strong candidate;OMIM|602303
MGE-IPC2	KCTD9	1.424916004	0.000624097	Ion channel	BrainSpLMD|54793;BrainSpMouseDev|69605	OMIM|617265
MGE-IPC2	RFWD3	1.09536525	0.000666575	Unclassified	BrainSpLMD|55159	OMIM|614151
MGE-IPC2	MCM5	0.727795642	0.000675733	DNA binding protein	BrainSpLMD|4174	OMIM|602696
MGE-IPC2	LIN54	1.277166904	0.000711233	Unclassified	BrainSpLMD|132660	OMIM|613367
MGE-IPC2	BAHCC1	0.422146292	0.000713641	DNA binding protein	BrainSpLMD|57597	OMIM|617646
MGE-IPC2	CEP57	0.623064981	0.000721542	Transport/cargo protein	BrainSpLMD|9702;Eurexp|euxassay_006338|ventricular layer	OMIM|607951;HPO|9702|Abnormality of vision, Aortic regurgitation, Ascites, Atrial septal defect, Autosomal recessive inheritance, Cataract, Clinodactyly, Coarctation of aorta, Corneal opacity, Dandy-Walker malformation, Epicanthus, Generalized hypotonia, Glaucoma, Global developmental delay, Increased nuchal translucency, Intellectual disability, Intrauterine growth retardation, Microcephaly, Micrognathia, Microphthalmia, Muscular dystrophy, Phenotypic variability, Polyhydramnios, Short stature, Small for gestational age, Subvalvular aortic stenosis, Triangular face, Ventricular septal defect
MGE-IPC2	RP11.168J18.6	0.349163284	0.000744422			
MGE-IPC2	ILDR2	1.543909501	0.000777051	Immunoglobulin	BrainSpLMD|387597	
MGE-IPC2	CEP83	1.096761675	0.000779887	Unclassified	BrainSpLMD|51134;Eurexp|euxassay_005968|brain, cervical, cervico-thoracic, cochlea, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, lip, olfactory, oral epithelium, oral region, palatal shelf, spinal cord, submandibular gland primordium, thoracic, thymus primordium, tongue, trigeminal V, utricle, vagus X, vestibulocochlear VIII	OMIM|615847;HPO|51134|Autosomal recessive inheritance, Nephronophthisis, Stage 5 chronic kidney disease, Thickening of the glomerular basement membrane, Tubular atrophy, Tubulointerstitial nephritis
MGE-IPC2	DDB2	1.262497309	0.000800962	DNA binding protein	BrainSpLMD|1643	OMIM|600811;COSMIC||skin basal cell, skin squamous cell, melanoma;HPO|1643|Abnormality of the dentition, Arthralgia, Autosomal recessive inheritance, Basal cell carcinoma, Cataract, Cognitive impairment, Conjunctival telangiectasia, Conjunctivitis, Cryptorchidism, Cutaneous photosensitivity, Defective DNA repair after ultraviolet radiation damage, Dermal atrophy, Developmental regression, Dry skin, EEG abnormality, Ectropion, Entropion, Erythema, Failure to thrive, Fatigue, Fever, Freckling, Hyperkeratosis, Hypermelanotic macule, Hypogonadism, Hypopigmented skin patches, Intellectual disability, progressive, Keratitis, Melanoma, Optic atrophy, Papilloma, Photophobia, Poikiloderma, Sensorineural hearing impairment, Squamous cell carcinoma of the skin, Strabismus, Telangiectasia, Telangiectasia of the skin, Thin skin
MGE-IPC2	TUBB4B	0.897061968	0.000816862	Structural protein	BrainSpLMD|10383	OMIM|602660
MGE-IPC2	CENPQ	1.122479333	0.000824895	Unclassified	BrainSpLMD|55166	OMIM|611506
MGE-IPC2	PIP4K2A	0.366823199	0.000826181	Lipid Kinase	BrainSpLMD|5305;Eurexp|euxassay_018594|basal plate, dorsal root ganglion, foregut-midgut junction, head mesenchyme, hindgut, incisor, lobe, loop, lumen, mantle layer, medullary stroma, mesenchyme, midgut, olfactory, rectum, stomach, testis, thymus primordium, ventral grey horn, vertebral axis muscle system, vomeronasal organ	OMIM|603140
MGE-IPC2	10-Sep	1.131953206	0.000844441			
MGE-IPC2	TOPBP1	0.747635425	0.0008491	Cell cycle control protein;Transcription regulatory protein	BrainSpLMD|11073	OMIM|607760
MGE-IPC2	NUP107	0.693413176	0.00085431	Transport/cargo protein	BrainSpLMD|57122	OMIM|607617;HPO|57122|Aplasia/Hypoplasia of the breasts, Aplasia/hypoplasia of the uterus, Autosomal recessive inheritance, Decreased fertility, Decreased serum estradiol, Delayed puberty, Delayed skeletal maturation, Gonadal dysgenesis, Hypoalbuminemia, Increased circulating gonadotropin level, Minimal change glomerulonephritis, Nephrotic syndrome, Osteopenia, Osteoporosis of vertebrae, Premature ovarian insufficiency, Primary amenorrhea, Progressive, Proteinuria, Sparse pubic hair, Stage 5 chronic kidney disease, Streak ovary, Variable expressivity
MGE-IPC2	FEN1	0.799148131	0.000864184	Deoxyribonuclease	BrainSpLMD|2237	OMIM|600393;COSMIC||breast cancer
MGE-IPC2	DCLRE1C	0.497961121	0.000897267	Deoxyribonuclease	BrainSpLMD|64421	OMIM|605988;HPO|64421|Abnormality of lymphocytes, Absent tonsils, Alopecia, Anemia, Aplasia of the thymus, Aplasia/Hypoplasia of the eyebrow, Autosomal recessive inheritance, B lymphocytopenia, Chronic diarrhea, Desquamation of skin soon after birth, Diarrhea, Dry skin, Edema, Eosinophilia, Erythroderma, Failure to thrive, Fever, Genital ulcers, Hepatomegaly, Hypoplasia of the thymus, Hypoproteinemia, Lymph node hypoplasia, Lymphadenopathy, Oral ulcer, Otitis media, Panhypogammaglobulinemia, Phenotypic variability, Pneumonia, Pruritus, Recurrent bacterial infections, Recurrent fungal infections, Recurrent upper respiratory tract infections, Recurrent viral infections, Severe B lymphocytopenia, Severe combined immunodeficiency, Splenomegaly, Thickened skin, Thrombocytopenia
MGE-IPC2	UBR7	0.593770475	0.0009124	Unclassified	BrainSpLMD|55148	SFARI||Autism, 5 - Hypothesized but untested;OMIM|613816
MGE-IPC2	CREB1	0.522105895	0.000912992	Transcription factor	BrainSpLMD|1385;Eurexp|euxassay_018374|embryo;BrainSpMouseDev|12695	OMIM|123810;COSMIC||clear cell sarcoma, angiomatoid fibrous histiocytoma;HPO|1385|Histiocytoma, Somatic mutation
MGE-IPC2	KIZ	1.23895553	0.000920433	Unclassified	BrainSpLMD|55857;Eurexp|euxassay_013723|mantle layer, marginal layer, olfactory, thyroid, ventricular layer	OMIM|615757;HPO|55857|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Pigmentary retinopathy, Progressive night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Undetectable electroretinogram, Wide nasal bridge
MGE-IPC2	TUBB6	0.61177224	0.00094921	Cytoskeletal protein	BrainSpLMD|84617;Eurexp|euxassay_015347|cervical, cervico-thoracic, cochlear component, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, inferior, medulla oblongata, metencephalon, midbrain, neural retina, nucleus pulposus, olfactory, spinal cord, stroma, superior, telencephalon, thoracic, tongue, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII	OMIM|615103
MGE-IPC2	FANCL	0.971297358	0.000971593	Enzyme: Ligase	BrainSpLMD|55120;Eurexp|euxassay_006857|ventricular layer	OMIM|608111;HPO|55120|Abnormality of chromosome stability, Almond-shaped palpebral fissure, Anemia, Aplasia/Hypoplasia of the radius, Autosomal recessive inheritance, Cafe-au-lait spot, Chromosome breakage, Esophageal atresia, Global developmental delay, Hypopigmented skin patches, Intellectual disability, Irregular hyperpigmentation, Leukopenia, Microcephaly, Phenotypic variability, Pyridoxine-responsive sideroblastic anemia, Scoliosis, Short palpebral fissure, Short stature, Thrombocytopenia, Tracheoesophageal fistula
MGE-IPC2	DIAPH1	0.514640874	0.000983578	Cytoskeletal associated protein	BrainSpLMD|1729	OMIM|602121;HPO|1729|Autosomal dominant inheritance, Autosomal recessive inheritance, Childhood onset, Cortical visual impairment, Hypoplasia of the corpus callosum, Low-frequency hearing loss, Microcephaly, Optic atrophy, Poor speech, Progressive hearing impairment, Seizures, Sensorineural hearing impairment, Short stature
MGE-IPC2	EEF1B2P3	1.085703695	0.00098492			
MGE-IPC2	DLEU1	0.86080036	0.001055173	Unclassified	BrainSpLMD|10301	OMIM|605765
MGE-IPC2	AC018643.4	0.93675423	0.001081461			
MGE-IPC2	PARD3	0.677834779	0.001085987	Adapter molecule	BrainSpLMD|56288;BrainSpMouseDev|60394	OMIM|606745
MGE-IPC2	PCBP2	0.352437077	0.001090484	RNA binding protein	BrainSpLMD|5094	OMIM|601210
MGE-IPC2	RP11.98J23.2	0.991253782	0.001108386			
MGE-IPC2	TMEM106C	0.740504306	0.001110292	Unclassified	BrainSpLMD|79022	
MGE-IPC2	TNPO3	0.256135292	0.001126927	Nuclear receptor	BrainSpLMD|23534	OMIM|610032;HPO|23534|Abnormality of lipid metabolism, Abnormality of the intrahepatic bile duct, Abnormality of the thyroid gland, Antinuclear antibody positivity, Biliary cirrhosis, Cirrhosis, Conjugated hyperbilirubinemia, Dermatographic urticaria, Elevated alkaline phosphatase, Hepatic failure, Hepatic fibrosis, Hepatocellular carcinoma, Hyperpigmentation of the skin, Increased IgM level, Jaundice, Onychomycosis, Orthostatic hypotension, Portal hypertension, Pruritus
MGE-IPC2	PLXNC1	0.814299956	0.001131123	Integral membrane protein	BrainSpLMD|10154;BrainSpMouseDev|34001	OMIM|604259
MGE-IPC2	DUT	0.431059097	0.001144288	Enzyme: Hydrolase	BrainSpLMD|1854	OMIM|601266
MGE-IPC2	C3orf58	0.629814732	0.001165413	Unclassified	BrainSpLMD|205428	SFARI||Autism, 4 - Minimal evidence;OMIM|612200
MGE-IPC2	POLD3	0.964524968	0.001170419	DNA polymerase	BrainSpLMD|10714;Eurexp|euxassay_007336|embryo	OMIM|611415
MGE-IPC2	RP11.159G9.5	0.964992488	0.001173904			
MGE-IPC2	NGLY1	0.630122658	0.001239234	Enzyme: Glycosidase	BrainSpLMD|55768;Eurexp|euxassay_003147|axial muscle, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, thymus primordium, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII, vibrissa	OMIM|610661;HPO|55768|Alacrima, Autosomal recessive inheritance, Fever, Generalized hypotonia, Pain, Polyneuropathy, Short foot, Small hand
MGE-IPC2	LCORL	1.032994252	0.001242906	Transcription factor	BrainSpLMD|254251	OMIM|611799
MGE-IPC2	NCAM1	0.297624151	0.001254564	Adhesion molecule	BrainSpLMD|4684;Eurexp|euxassay_014138|bladder, brain, cervical, cervico-thoracic, cortex, dermal component, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, handplate, midgut, neural retina, olfactory, pericardial cavity, rest of mesenchyme, skeletal muscle, spinal cord, stomach, thoracic, trigeminal V, ureter, vagus X, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17734	OMIM|116930
MGE-IPC2	BTG3	0.597654299	0.001302577	Cell cycle control protein	BrainSpLMD|10950	OMIM|605674
MGE-IPC2	AGO2	0.573974029	0.00132991	Translation regulatory protein	BrainSpLMD|27161	OMIM|606229
MGE-IPC2	HMGN1	0.612899985	0.00133043	Transcription regulatory protein	BrainSpLMD|3150;Eurexp|euxassay_003511|calyces, cochlea, mantle layer, marginal layer, vibrissa;BrainSpMouseDev|15087	SFARI||Autism, 3 - Suggestive evidence;OMIM|163920
MGE-IPC2	PPP2R3C	0.627857917	0.001347938	Calcium binding protein	BrainSpLMD|55012	OMIM|615902
MGE-IPC2	ODF2	0.947837033	0.001404674	Motor protein	BrainSpLMD|4957	OMIM|602015
MGE-IPC2	C7orf55.LUC7L2	0.883533317	0.001409672			
MGE-IPC2	EFS	1.430611087	0.001419426	Unclassified	BrainSpLMD|10278	OMIM|609906
MGE-IPC2	IDH2	0.806559981	0.001421095	Enzyme: Dehydrogenase	BrainSpLMD|3418	OMIM|147650;COSMIC||glioblastoma;HPO|3418|Abnormality of the metaphysis, Autosomal dominant inheritance, Bone pain, Cardiomyopathy, D-2-hydroxyglutaric aciduria, Exostoses, Global developmental delay, Hemangiomatosis, Joint stiffness, Micromelia, Multiple enchondromatosis, Muscular hypotonia, Osteolysis, Scoliosis, Seizures, Short stature, Subcutaneous nodule, Venous thrombosis, Visceral angiomatosis
MGE-IPC2	FRYL	0.680519581	0.001450495	Unclassified	BrainSpLMD|285527;Eurexp|euxassay_000255|incisor, molar, submandibular gland primordium	
MGE-IPC2	TTF1	0.989605712	0.001548965	Transcription regulatory protein	BrainSpLMD|7270	OMIM|600777
MGE-IPC2	XPO1	0.523857842	0.00156483	Transport/cargo protein	BrainSpLMD|7514	SFARI||Autism, 4 - Minimal evidence;OMIM|602559;COSMIC||CLL
MGE-IPC2	HDAC2	0.348155515	0.001598381	Transcription regulatory protein	BrainSpLMD|3066;BrainSpMouseDev|14958	OMIM|605164
MGE-IPC2	KCNH8	1.0932542	0.00164662	Voltage gated channel	BrainSpLMD|131096	OMIM|608260
MGE-IPC2	ALYREF	0.313972702	0.00177589	Chaperone	BrainSpLMD|10189	OMIM|604171
MGE-IPC2	SRPK1	0.426557324	0.001793039	Dual specificity kinase	BrainSpLMD|6732	OMIM|601939
MGE-IPC2	KIAA1328	0.981766728	0.001801723	Unclassified	BrainSpLMD|57536	OMIM|616480
MGE-IPC2	TRA2B	0.357963263	0.001809152	RNA binding protein	BrainSpLMD|6434	OMIM|602719
MGE-IPC2	NEDD4L	0.349120956	0.00181753	Ubiquitin proteasome system protein	BrainSpLMD|23327;Eurexp|euxassay_011535|brain, dorsal root ganglion, facial VII, footplate, glossopharyngeal IX, handplate, metanephros, midgut, neural retina, oesophagus, olfactory, pancreas, rectum, renal/urinary system, rest of mesenchyme, skeletal muscle, spinal cord, stomach, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII	OMIM|606384;HPO|23327|2-3 toe syndactyly, Autosomal dominant inheritance, Cleft palate, Congenital onset, Cryptorchidism, Global developmental delay, Intellectual disability, Micrognathia, Muscular hypotonia of the trunk, Strabismus
MGE-IPC2	RBM23	0.380000248	0.001909017	Transcription regulatory protein	BrainSpLMD|55147	
MGE-IPC2	ATRNL1	0.861967133	0.001936048	Integral membrane protein	BrainSpLMD|26033	SFARI||Autism, 5 - Hypothesized but untested;OMIM|612869
MGE-IPC2	PIGK	0.778986039	0.001936839	Cysteine protease	BrainSpLMD|10026	OMIM|605087
MGE-IPC2	TMSB4XP1	0.264049143	0.002032275	-	BrainSpLMD|7115	
MGE-IPC2	EAF1	0.565858618	0.002060133	Transcription regulatory protein	BrainSpLMD|85403;Eurexp|euxassay_017241|olfactory	OMIM|608315
MGE-IPC2	UPF3B	0.483322628	0.002067431	RNA binding protein	BrainSpLMD|65109	SFARI||Autism, 2 - Strong candidate;OMIM|300298;HPO|65109|Abnormality of the musculature, Aplasia/Hypoplasia of the corpus callosum, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Disproportionate tall stature, Frontal bossing, Growth abnormality, High forehead, High palate, Hypoplasia of the maxilla, Intellectual disability, Joint hyperflexibility, Kyphosis, Long face, Long foot, Macrocephaly, Macroorchidism, Mandibular prognathia, Micrognathia, Muscular hypotonia, Narrow chest, Narrow face, Nasal speech, Neurological speech impairment, Pectus carinatum, Pectus excavatum, Prominent forehead, Prominent nasal bridge, Scoliosis, Short philtrum, X-linked recessive inheritance
MGE-IPC2	WBP5	0.650783	0.002260652			
MGE-IPC2	EXOSC9	0.868714458	0.00229664	Ribonuclease	BrainSpLMD|5393	OMIM|606180
MGE-IPC2	DDHD1	1.06164658	0.002316532	Enzyme: Phospholipase	BrainSpLMD|80821;Eurexp|euxassay_003133|cervical, cervico-thoracic, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, incisor, lobe, marginal layer, mesenchyme, molar, naris, oesophagus, olfactory, submandibular gland primordium, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|614603;HPO|80821|Autosomal recessive inheritance, Babinski sign, Difficulty walking, Distal sensory impairment, Hyperreflexia, Juvenile onset, Lower limb muscle weakness, Lower limb spasticity, Pes cavus, Scoliosis, Slow progression, Spastic paraplegia
MGE-IPC2	GPC6	0.836192964	0.002330943	Growth factor	BrainSpLMD|10082	SFARI||Autism, 4 - Minimal evidence;OMIM|604404;HPO|10082|Anterolateral radial head dislocation, Atrial septal defect, Autosomal recessive inheritance, Axillary pterygia, Blepharophimosis, Cryptorchidism, Depressed nasal bridge, Disproportionate short-limb short stature, Epicanthus, Fibular hypoplasia, Flat face, Frontal bossing, Hemangioma, Hypoplastic distal humeri, Increased fibular diameter, Limited elbow extension, Limited elbow flexion, Limited elbow flexion/extension, Limited hip movement, Limited knee extension, Limited knee flexion, Limited knee flexion/extension, Long philtrum, Malar flattening, Micrognathia, Popliteal pterygium, Pulmonary artery stenosis, Rhizomelia, Short humerus, Short neck, Short nose, Short tibia, Umbilical hernia, Ventricular septal defect, Wide nasal bridge
MGE-IPC2	RNASEH2A	0.945912198	0.002386008	Ribonuclease	BrainSpLMD|10535	OMIM|606034;HPO|10535|Arrhinencephaly, Autosomal recessive inheritance, CSF lymphocytic pleiocytosis, Cerebellar atrophy, Cerebral atrophy, Cerebral calcification, Cleft eyelid, Convex nasal ridge, Death in childhood, Dystonia, Elevated hepatic transaminases, Feeding difficulties, Hemiplegia/hemiparesis, Hepatomegaly, Hepatosplenomegaly, Hydrocephalus, Infantile onset, Intellectual disability, profound, Intrauterine growth retardation, Leukodystrophy, Low-set ears, Pancytopenia, Porencephalic cyst, Progressive microcephaly, Severe global developmental delay, Spasticity, Splenomegaly, Thrombocytopenia, Ventriculomegaly
MGE-IPC2	RMI1	0.424421735	0.002391011	Unclassified	BrainSpLMD|80010	OMIM|610404
MGE-IPC2	HP1BP3	0.359185422	0.002395325	DNA binding protein	BrainSpLMD|50809	OMIM|616072
MGE-IPC2	OTUD3	0.464318857	0.002410444	Unclassified	Eurexp|euxassay_011140|axial skeleton, olfactory, pancreas, vomeronasal organ	OMIM|611758
MGE-IPC2	PROSER1	0.502975755	0.002431409	Unclassified	BrainSpLMD|80209	
MGE-IPC2	DHX8	0.37407821	0.002514261	RNA binding protein	BrainSpLMD|1659	OMIM|600396
MGE-IPC2	MAGI1	0.454812361	0.002564067	Cell junction protein	BrainSpLMD|9223;Eurexp|euxassay_016214|axial skeleton, clavicle, femur, fibula, humerus, pelvic girdle, rib, scapula, tibia	OMIM|602625
MGE-IPC2	PRIM1	1.466046135	0.002571768	RNA polymerase	BrainSpLMD|5557;Eurexp|euxassay_018061|embryo	OMIM|176635
MGE-IPC2	ARHGEF26	0.594852716	0.002604803		BrainSpLMD|26084;Eurexp|euxassay_016114|ventricular layer	OMIM|617552
MGE-IPC2	SP3	0.984106594	0.002616302	Transcription factor	BrainSpLMD|6670;BrainSpMouseDev|20449	OMIM|601804
MGE-IPC2	ASAP1	0.786780588	0.002693932	GTPase activating protein	BrainSpLMD|50807	OMIM|605953
MGE-IPC2	KIAA1731	0.617364918	0.002767056			
MGE-IPC2	MIS18A	0.793257043	0.002798752	Unclassified	BrainSpLMD|54069	
MGE-IPC2	UBB	0.278330565	0.002850785	Ubiquitin proteasome system protein	BrainSpLMD|7314	OMIM|191339;HPO|7314|Anterior open-bite malocclusion, Autosomal dominant inheritance, Cleft palate, Gingival overgrowth, Intellectual disability, profound, Micrognathia, Overbite, Seizures
MGE-IPC2	MAPRE1	0.964118919	0.002908299	Cell cycle control protein	BrainSpLMD|22919	OMIM|603108
MGE-IPC2	HNRNPA3P6	0.398872951	0.002997402			
MGE-IPC2	ANP32B	0.874437422	0.003070009	Unclassified	BrainSpLMD|10541;Eurexp|euxassay_006714|embryo	
MGE-IPC2	POLR2A	0.536530513	0.003070224	RNA polymerase	BrainSpLMD|5430	OMIM|180660
MGE-IPC2	G2E3	0.64578362	0.003091497	Enzyme: Ligase	BrainSpLMD|55632	OMIM|611299
MGE-IPC2	NUCKS1	0.283226704	0.003097602	DNA binding protein	BrainSpLMD|64710	OMIM|611912
MGE-IPC2	TMEM245	1.070009897	0.003113601	Integral membrane protein	BrainSpLMD|23731;Eurexp|euxassay_000141|dorsal root ganglion, trigeminal V, vagus X, vestibulocochlear VIII	
MGE-IPC2	LIN52	0.707172605	0.00313662	Unclassified		
MGE-IPC2	CCNB1	0.762633383	0.003148731	Cell cycle control protein	BrainSpLMD|891	OMIM|123836
MGE-IPC2	SLC38A1	0.346991224	0.003193957	Membrane transport protein	BrainSpLMD|81539;Eurexp|euxassay_019706|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, incisor, lung, mantle layer, marginal layer, metanephros, midgut, neural retina, olfactory, stomach, submandibular gland primordium, testis, thoracic, thymus primordium, thyroid, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa, vomeronasal organ	OMIM|608490
MGE-IPC2	PSIP1	0.605852562	0.003294274	Transcription regulatory protein	BrainSpLMD|11168;Eurexp|euxassay_008131|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, trigeminal V, vagus X, vibrissa, vomeronasal organ	OMIM|603620;COSMIC||AML
MGE-IPC2	TPM4	0.516489606	0.003300568	Cytoskeletal protein		OMIM|600317;COSMIC||ALCL
MGE-IPC2	NCAPH2	1.383993938	0.003397428	Unclassified	BrainSpLMD|29781;Eurexp|euxassay_006527|embryo	OMIM|611230
MGE-IPC2	FAT1	0.289499312	0.003566053	Adhesion molecule	BrainSpLMD|2195;Eurexp|euxassay_013462|axial skeleton, lung, mandible, maxilla, mesenchyme, rest of mesenchyme, sternum, submandibular gland primordium, vibrissa;BrainSpMouseDev|13884	SFARI||Autism, No category;OMIM|600976;COSMIC||oral squamous cell, chemorefractory CLL, head and neck, pancreatic acinar cell carcinoma, pancreatic
MGE-IPC2	RNF168	0.829245591	0.003801471	Transcription regulatory protein	BrainSpLMD|165918	OMIM|612688;HPO|165918|Abnormal facial shape, Ataxia, Autosomal recessive inheritance, Dry skin, IgG deficiency, Immunodeficiency, Increased sensitivity to ionizing radiation, Mild global developmental delay, Short stature
MGE-IPC2	MSH2	0.960767595	0.003804767	DNA repair protein	BrainSpLMD|4436;Eurexp|euxassay_001494|dorsal root ganglion	OMIM|609309;COSMIC||colorectal, endometrial, ovarian, colorectal, endometrial, ovarian;HPO|4436|Abdominal pain, Abnormality of abdomen morphology, Adenoma sebaceum, Anxiety, Attention deficit hyperactivity disorder, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary freckling, Basal cell carcinoma, Benign gastrointestinal tract tumors, Benign genitourinary tract neoplasm, Breast carcinoma, Cafe-au-lait spot, Colon cancer, Colonic diverticula, Constipation, Death in early adulthood, Death in infancy, Depressivity, Duodenal adenocarcinoma, Ependymoma, Fatigue, Gastrointestinal hemorrhage, Glioblastoma, Hypermelanotic macule, Hypertonia, Increased intracranial pressure, Irritability, Laryngeal carcinoma, Leukemia, Lymphoma, Malabsorption, Malignant genitourinary tract tumor, Medulloblastoma, Migraine, Muscular hypotonia, Nausea and vomiting, Neoplasm of the rectum, Neoplasm of the stomach, Neuroblastoma, Rhabdomyosarcoma, Sebaceous gland carcinoma, Seizures, Weight loss
MGE-IPC2	ARL6IP6	0.796328363	0.003805401	Unclassified	BrainSpLMD|151188;Eurexp|euxassay_011620|olfactory, submandibular gland primordium, ventricular layer	OMIM|616495
MGE-IPC2	PCNP	0.593362229	0.003874936	Ubiquitin proteasome system protein	BrainSpLMD|57092	OMIM|615210
MGE-IPC2	SPAG9	0.343349348	0.003939903	Integral membrane protein	BrainSpLMD|9043;Eurexp|euxassay_014482|dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, trigeminal V, vestibulocochlear VIII	OMIM|605430
MGE-IPC2	RP11.573N10.1	1.400950227	0.004047719			
MGE-IPC2	SAP30BP	0.893809265	0.004166255	Transcription regulatory protein	BrainSpLMD|29115;Eurexp|euxassay_003056|submandibular gland primordium	OMIM|610218
MGE-IPC2	EIF3D	0.518672457	0.004299104	Translation regulatory protein	BrainSpLMD|8664	OMIM|603915
MGE-IPC2	SMCHD1	0.560759144	0.004415835	Unclassified	BrainSpLMD|23347;Eurexp|euxassay_008416|embryo	OMIM|614982;HPO|23347|Abdominal wall muscle weakness, Abnormality of the eyelashes, Abnormality of the midface, Abnormality of the retinal vasculature, Absent nares, Amblyopia, Anophthalmia, Anosmia, Aplasia of the nose, Autosomal dominant inheritance, Beevor's sign, Blindness, Cataract, Choanal atresia, Cleft palate, Coloboma, Cryptorchidism, Digenic inheritance, EMG abnormality, Elevated serum creatine phosphokinase, Facial palsy, Failure of eruption of permanent teeth, Foot dorsiflexor weakness, Gynecomastia, High palate, Hyperlordosis, Hypertelorism, Hypogonadism, Hypoplasia of penis, Hypoplasia of the olfactory bulb, Hyposmia, Inguinal hernia, Iris coloboma, Mask-like facies, Micropenis, Microphthalmia, Midface retrusion, Misalignment of teeth, Palpebral edema, Pelvic girdle muscle weakness, Primary amenorrhea, Scapulohumeral muscular dystrophy, Sensorineural hearing impairment, Single naris, Skeletal muscle atrophy, Visual loss
MGE-IPC2	SMPD4	0.908097085	0.004418387	Integral membrane protein	BrainSpLMD|55627;Eurexp|euxassay_012560|ventricular layer	OMIM|610457
MGE-IPC2	PSRC1	1.160216957	0.004448239	Unclassified	BrainSpLMD|84722;Eurexp|euxassay_003651|left lung, marginal layer, right lung, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|613126
MGE-IPC2	SP2	1.084085891	0.004496319	Transcription factor	BrainSpLMD|6668	OMIM|601801
MGE-IPC2	PAICS	0.678448053	0.004527501	Enzyme: Carboxylase	BrainSpLMD|10606;Eurexp|euxassay_018936|marginal layer, nucleus pulposus, submandibular gland primordium, ventricular layer, vibrissa	OMIM|172439
MGE-IPC2	CDC27	0.491197864	0.004680117	Cell cycle control protein	BrainSpLMD|996	OMIM|116946
MGE-IPC2	HAUS8	1.224925574	0.00473919	Unclassified	BrainSpLMD|93323	OMIM|613434
MGE-IPC2	SLC35B4	0.866166214	0.004859762	Membrane transport protein	BrainSpLMD|84912;Eurexp|euxassay_006950|calyces, left lung, mantle layer, pharyngo-tympanic tube, renal/urinary system, right lung, thymus primordium, turbinate bones, vagus X	OMIM|610923
MGE-IPC2	HMGXB4	0.547546199	0.004874922	DNA binding protein	BrainSpLMD|10042;BrainSpMouseDev|46664	OMIM|604702
MGE-IPC2	STAM2	0.515097784	0.004928946	Adapter molecule	BrainSpLMD|10254;Eurexp|euxassay_016355|cornea, epidermis, incisor, molar, urethra, vibrissa	OMIM|606244
MGE-IPC2	ELAVL4	0.281903531	0.004985545	RNA binding protein	BrainSpLMD|1996	OMIM|168360
MGE-IPC2	SMAD4	0.855293339	0.004995415	Transcription factor	BrainSpLMD|4089;Eurexp|euxassay_005333|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, orbito-sphenoid, trigeminal V, vagus X;BrainSpMouseDev|16898	SFARI||Autism, 3 - Suggestive evidence;OMIM|600993;COSMIC||colorectal, pancreatic, small intestine, gastrointestinal polyp;HPO|4089|2-3 toe syndactyly, Abdominal pain, Abnormality of epiphysis morphology, Abnormality of the cardiac septa, Abnormality of the metaphysis, Abnormality of the pubic bone, Abnormality of the ribs, Abnormality of the voice, Anemia, Aortic valve stenosis, Autism, Autosomal dominant inheritance, Blepharophimosis, Brachydactyly, Broad ribs, Camptodactyly, Cavernous hemangioma, Cholecystitis, Clinodactyly, Coarctation of aorta, Cone-shaped epiphysis, Craniofacial hyperostosis, Cryptorchidism, Deeply set eye, EMG abnormality, Enlarged vertebral pedicles, Epistaxis, Failure to thrive, Fine hair, Generalized muscle hypertrophy, Global developmental delay, Hamartomatous polyposis, Hearing impairment, Hematochezia, High-grade hypermetropia, Hypermetropia, Hypertelorism, Hypertension, Hypoalbuminemia, Hypokalemia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Intellectual disability, Intrauterine growth retardation, Joint stiffness, Large iliac wings, Laryngotracheal stenosis, Limitation of joint mobility, Low-set ears, Malar flattening, Mandibular prognathia, Microcephaly, Microcytic anemia, Microtia, Midface retrusion, Migraine, Multiple gastric polyps, Narrow mouth, Neoplasm of the pancreas, Overlapping toe, Patent ductus arteriosus, Pericardial effusion, Platyspondyly, Portal hypertension, Prominent nasal bridge, Ptosis, Radial deviation of finger, Seizures, Severe short stature, Short finger, Short long bone, Short neck, Short palm, Short palpebral fissure, Short philtrum, Short stature, Short toe, Skeletal muscle hypertrophy, Somatic mutation, Sparse hair, Specific learning disability, Spontaneous hematomas, Stiff skin, Strabismus, Telangiectasia of the skin, Thick eyebrow, Thickened calvaria, Thickened skin, Thin upper lip vermilion, Thin vermilion border, Vertebral fusion, Visceral angiomatosis
MGE-IPC2	COPS8	0.646262866	0.005067919	Regulatory/other subunit	BrainSpLMD|10920	OMIM|616011
MGE-IPC2	RBBP4P1	0.463937978	0.005113333			
MGE-IPC2	SAP30	0.934559596	0.005133101	Regulatory/other subunit	BrainSpLMD|8819	OMIM|603378
MGE-IPC2	ZDHHC17	0.348630906	0.005197671	Unclassified	BrainSpLMD|23390	OMIM|607799
MGE-IPC2	ARL4D	0.670757082	0.005233771	GTPase	BrainSpLMD|379	OMIM|600732
MGE-IPC2	SESTD1	0.483396456	0.00536124	Cytoskeletal associated protein	BrainSpLMD|91404;Eurexp|euxassay_000779|dorsal root ganglion, facial VII, inferior, superior, trigeminal V, vagus X, vestibular component	
MGE-IPC2	ZNF519	0.989865279	0.005376859	DNA binding protein	BrainSpLMD|162655;Eurexp|euxassay_004420|olfactory	
MGE-IPC2	USP33	0.80143845	0.005543872	Ubiquitin proteasome system protein	BrainSpLMD|23032	OMIM|615146
MGE-IPC2	PVRL3	1.286802349	0.00566493			
MGE-IPC2	ENOX1	0.385277527	0.005777868	RNA binding protein	BrainSpLMD|55068;Eurexp|euxassay_010501|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610914
MGE-IPC2	HERPUD1	0.808657994	0.005851737	Integral membrane protein	BrainSpLMD|9709;Eurexp|euxassay_005097|clavicle, mandible, maxilla, olfactory, orbito-sphenoid	OMIM|608070;COSMIC||prostate
MGE-IPC2	CDC23	0.329884796	0.005923723	Ubiquitin proteasome system protein;Cell cycle control protein	BrainSpLMD|8697;Eurexp|euxassay_007491|embryo	OMIM|603462
MGE-IPC2	CCT8P1	0.851853366	0.005932262			
MGE-IPC2	PSMC3	0.569173201	0.006030115	Ubiquitin proteasome system protein	BrainSpLMD|5702	OMIM|186852
MGE-IPC2	RTTN	1.091826066	0.006174181	Unclassified	BrainSpLMD|25914	OMIM|610436;HPO|25914|Abnormality of the corpus callosum, Autosomal recessive inheritance, Dysarthria, EEG abnormality, Intellectual disability, moderate, Microcephaly, Mild short stature, Polymicrogyria, Poor speech, Seizures
MGE-IPC2	EFCAB2	0.522892027	0.006273272	Calcium binding protein	BrainSpLMD|84288;Eurexp|euxassay_004433|choroid invagination, mantle layer, meninges	
MGE-IPC2	DPF2	0.537323219	0.006297299	DNA binding protein	BrainSpLMD|5977;BrainSpMouseDev|19471	OMIM|601671
MGE-IPC2	ST8SIA4	0.649757203	0.006409935	Enzyme: Sialyltransferase	BrainSpLMD|7903;Eurexp|euxassay_007776|brain, dorsal root ganglion, left lung, mesenchyme, neural retina, olfactory, organ system, right lung, spinal cord, trigeminal V	OMIM|602547
MGE-IPC2	TRIM44	0.473731141	0.006455343	Unclassified	BrainSpLMD|54765	OMIM|612298;HPO|54765|Aniridia, Aplasia/Hypoplasia of the macula, Autosomal dominant inheritance, Cataract, Glaucoma, Nystagmus, Peters anomaly, Progressive visual loss, Visual loss
MGE-IPC2	SPATA5	1.029890438	0.006753263	ATPase	BrainSpLMD|166378	OMIM|613940;HPO|166378|Absent speech, Autosomal recessive inheritance, EEG abnormality, Feeding difficulties, Global developmental delay, Intellectual disability, Intellectual disability, severe, Limb hypertonia, Microcephaly, Muscular hypotonia of the trunk, Seizures, Sensorineural hearing impairment, Spasticity
MGE-IPC2	PCM1	0.284326385	0.006969295	Cytoskeletal associated protein	BrainSpLMD|5108	OMIM|600299;COSMIC||papillary thyroid, CML, MPN;HPO|5108|Autosomal dominant inheritance, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma
MGE-IPC2	ACYP1	0.829585347	0.007103528	Enzyme: Phosphatase	BrainSpLMD|97	OMIM|600875
MGE-IPC2	HNRNPL	0.509625281	0.007113277	Ribonucleoprotein	BrainSpLMD|3191	OMIM|603083
MGE-IPC2	ZNF738	0.393754716	0.007243186	Transcription regulatory protein	BrainSpLMD|148203	
MGE-IPC2	YEATS4	0.917542856	0.00738509	Transcription factor	BrainSpLMD|8089	OMIM|602116
MGE-IPC2	PCDH17	0.505069963	0.007444389	Adhesion molecule	BrainSpLMD|27253	OMIM|611760
MGE-IPC2	BRD8	0.473844054	0.007536867	Transcription regulatory protein	BrainSpLMD|10902;Eurexp|euxassay_019636|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	OMIM|602848
MGE-IPC2	CEP97	0.279011108	0.00757247	Unclassified	BrainSpLMD|79598	OMIM|615864
MGE-IPC2	CTDSPL2	0.791941646	0.007626916	Unclassified	BrainSpLMD|51496	
MGE-IPC2	UTRN	0.480574655	0.007632123	Anchor protein	BrainSpLMD|7402;Eurexp|euxassay_013991|bladder, cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, primitive seminiferous tubules, rectum, stomach, trigeminal V, urethra	SFARI||Autism, No category;OMIM|128240
MGE-IPC2	WHSC1L1	0.269981746	0.007741965			
MGE-IPC2	H1FX	0.325905088	0.007743933	DNA binding protein	BrainSpLMD|8971;Eurexp|euxassay_003540|medulla	OMIM|602785
MGE-IPC2	RALY	0.691187662	0.007745298	RNA binding protein	BrainSpLMD|22913	OMIM|614663
MGE-IPC2	RPL5P4	1.024355101	0.008100293			
MGE-IPC2	SMARCA2	0.383726636	0.008309469	Transcription factor	BrainSpLMD|6595;Eurexp|euxassay_000790|cerebral cortex, mesenchyme	SFARI||Autism, No category;OMIM|600014;HPO|6595|Abnormal hair pattern, Abnormality of the metacarpal bones, Absence seizures, Absent eyebrow, Absent speech, Aggressive behavior, Alopecia, Anteverted nares, Aphasia, Autosomal dominant inheritance, Blepharophimosis, Brachydactyly, Broad distal phalanx of finger, Broad philtrum, Clubbing of toes, Cryptorchidism, Curly eyelashes, Dysphasia, Echolalia, Eczema, Epileptic spasms, Everted lower lip vermilion, Excessive wrinkled skin, Failure to thrive, Global developmental delay, High, narrow palate, Highly arched eyebrow, Hypotrichosis, Intellectual disability, Intellectual disability, severe, Intrauterine growth retardation, Joint dislocation, Long eyelashes, Long philtrum, Low anterior hairline, Microcephaly, Mutism, Narrow nasal bridge, Poor speech, Prominent interphalangeal joints, Sandal gap, Scoliosis, Seizures, Severe short stature, Short metacarpal, Short metatarsal, Short palm, Short palpebral fissure, Short phalanx of finger, Smooth philtrum, Sparse scalp hair, Specific learning disability, Status epilepticus, Thick lower lip vermilion, Thick nasal alae, Thin vermilion border, Triangular face, Wide intermamillary distance, Wide mouth, Wide nasal base
MGE-IPC2	FAM13B	0.592716423	0.008453108	GTPase activating protein	BrainSpLMD|51306	OMIM|609371
MGE-IPC2	LRBA	0.623014115	0.008457896	Anchor protein	BrainSpLMD|987;Eurexp|euxassay_011127|roof plate	SFARI||Autism, 4 - Minimal evidence;OMIM|606453;HPO|987|Arthritis, Asthma, Autoimmune hemolytic anemia, Autosomal recessive inheritance, Bronchiectasis, Chronic diarrhea, Chronic lung disease, Clubbing of fingers, Colitis, Conjunctivitis, Failure to thrive, Gastritis, Growth delay, Hypothyroidism, IgA deficiency, IgM deficiency, Immunodeficiency, Lymphadenopathy, Pneumonia, Progressive, Recurrent otitis media, Recurrent sinusitis, Thrombocytopenia
MGE-IPC2	MXI1	0.451221902	0.008481079	Transcription regulatory protein	BrainSpLMD|4601;Eurexp|euxassay_019544|adrenal gland;BrainSpMouseDev|17626	OMIM|600020
MGE-IPC2	NDUFS4	0.499872875	0.008526065	Enzyme: Reductase	BrainSpLMD|4724	OMIM|602694;HPO|4724|Abnormal mitochondria in muscle tissue, Abnormal pattern of respiration, Acute necrotizing encephalopathy, Ataxia, Autosomal recessive inheritance, Babinski sign, Blindness, CNS demyelination, Cerebellar atrophy, Cerebral edema, Coma, Developmental regression, Dysarthria, Dystonia, Emotional lability, Exercise intolerance, Failure to thrive, Feeding difficulties in infancy, Generalized hypotonia, Gliosis, Global developmental delay, Growth delay, Hepatic failure, Hepatocellular necrosis, Heterogeneous, Hyperreflexia, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hyporeflexia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Lactic acidosis, Lethargy, Leukodystrophy, Mitochondrial inheritance, Muscle weakness, Nystagmus, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Phenotypic variability, Pigmentary retinopathy, Progressive, Progressive macrocephaly, Ptosis, Respiratory failure, Seizures, Sensorineural hearing impairment, Skeletal muscle atrophy, Spasticity, Strabismus, Vomiting, X-linked dominant inheritance
MGE-IPC2	ANAPC5	0.359496668	0.008564369	Cell cycle control protein	BrainSpLMD|51433	OMIM|606948
MGE-IPC2	CH17.449C21.1	1.40451685	0.008644808			
MGE-IPC2	DOCK11	0.282354468	0.008711853	Unclassified	BrainSpLMD|139818	OMIM|300681
MGE-IPC2	HDGF	0.760221265	0.008817969	Growth factor	BrainSpLMD|3068;Eurexp|euxassay_002405|epithelium, incisor, lobe, molar, naris, olfactory, oral epithelium, orbito-sphenoid, submandibular gland primordium, thymus primordium, ventricular layer	OMIM|600339
MGE-IPC2	ARL4C	0.311173604	0.008969611	GTPase	BrainSpLMD|10123;Eurexp|euxassay_016423|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, vestibulocochlear VIII	OMIM|604787
MGE-IPC2	RFC2	0.661502328	0.009165503	DNA binding protein	BrainSpLMD|5982	OMIM|600404;HPO|5982|Abdominal pain, Abnormality of dental enamel, Abnormality of extrapyramidal motor function, Abnormality of pelvic girdle bone morphology, Abnormality of the fingernails, Abnormality of the neck, Anxiety, Arthralgia, Attention deficit hyperactivity disorder, Autism, Blepharophimosis, Broad forehead, Cerebral ischemia, Chronic otitis media, Clinodactyly of the 5th finger, Coarse facial features, Colonic diverticula, Constipation, Dental malocclusion, Depressivity, Down-sloping shoulders, Dysgraphia, Dysmetria, Elevated serum creatine phosphokinase, Elfin facies, Epicanthus, Everted lower lip vermilion, Failure to thrive in infancy, Gait imbalance, Genu valgum, Hallux valgus, High forehead, High-grade hypermetropia, Hoarse voice, Hyperacusis, Hypercalcemia, Hypercalciuria, Hyperlordosis, Hyperreflexia, Hypodontia, Hypoplasia of the zygomatic bone, Hypoplastic toenails, Inguinal hernia, Insomnia, Intellectual disability, Joint stiffness, Kyphosis, Long philtrum, Low-set, posteriorly rotated ears, Macroglossia, Macrotia, Microcephaly, Microdontia, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Muscular hypotonia, Narrow face, Nausea and vomiting, Nystagmus-induced head nodding, Obesity, Obsessive-compulsive behavior, Open bite, Overfriendliness, Pelvic kidney, Periorbital edema, Peripheral pulmonary artery stenosis, Pes planus, Phonophobia, Pointed chin, Proteinuria, Protruding ear, Pulmonic stenosis, Redundant skin, Renal insufficiency, Renovascular hypertension, Sacral dimple, Sensorineural hearing impairment, Short nose, Short stature, Spasticity, Strabismus, Stroke, Supravalvular aortic stenosis, Thick lower lip vermilion, Tremor, Visual impairment, Wide mouth, Wide nasal bridge
MGE-IPC2	ARL6IP1	0.418378052	0.009210909	Membrane transport protein	BrainSpLMD|23204	OMIM|607669;HPO|23204|Absent Achilles reflex, Autosomal recessive inheritance, Difficulty walking, Hyperactive patellar reflex, Inability to walk, Scissor gait, Sensory neuropathy, Spastic paraplegia
MGE-IPC2	HAUS6	0.998604384	0.009399028	Unclassified	BrainSpLMD|54801	OMIM|613433
MGE-IPC2	SRBD1	0.519785703	0.009418899	Unclassified	BrainSpLMD|55133;Eurexp|euxassay_009989|olfactory, thymus primordium	
MGE-IPC2	POLH	1.482181155	0.009554037	DNA polymerase	BrainSpLMD|5429	OMIM|603968;HPO|5429|Autosomal recessive inheritance, Basal cell carcinoma, Conjunctivitis, Cutaneous melanoma, Cutaneous photosensitivity, Dermal atrophy, Dry skin, Ectropion, Entropion, Freckles in sun-exposed areas, Hypopigmentation of the skin, Keratitis, Melanoma, Photophobia, Poikiloderma, Squamous cell carcinoma, Telangiectasia
MGE-IPC2	CHIC2	0.647475653	0.009696589	Integral membrane protein	BrainSpLMD|26511	OMIM|604332;COSMIC||AML
MGE-IPC2	MCM3	0.994398857	0.009697968	DNA binding protein	BrainSpLMD|4172;Eurexp|euxassay_001694|marginal layer, ventricular layer	OMIM|602693
MGE-IPC2	CNTROB	0.866539252	0.009796167	Cell cycle control protein;Unclassified	BrainSpLMD|116840	OMIM|611425
MGE-IPC2	FUS	0.575990563	0.009842976	RNA binding protein	BrainSpLMD|2521	OMIM|137070;COSMIC||liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma;HPO|2521|Abnormal pyramidal signs, Abnormal upper motor neuron morphology, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Decreased muscle mass, Depressivity, Dysarthria, Dyspnea, EMG abnormality, Emotional lability, Fasciculations, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Gait disturbance, Generalized muscle weakness, Hyperreflexia, Hyporeflexia, Muscle cramps, Neurodegeneration, Neuronal loss in central nervous system, Pain, Paralysis, Postural tremor, Proximal amyotrophy, Pseudobulbar behavioral symptoms, Respiratory failure, Skeletal muscle atrophy, Spasticity, Subcutaneous nodule, Xerostomia
MGE-IPC3	TOX3	2.23288251	0	Unclassified	Eurexp|euxassay_006138|cortex, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, mantle layer, mesenchyme, midgut, olfactory, pancreas, paraxial mesenchyme, penis, retina, stomach, stroma, tongue, trigeminal V, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|89252	OMIM|611416
MGE-IPC3	DLX1	2.136294796	0	Transcription factor	BrainSpLMD|1745;Eurexp|euxassay_008426|cochlea, epithelium, footplate, handplate, incisor, inner ear, mantle layer, midgut, naso-lacrimal duct, neural retina, oesophagus, paraxial mesenchyme, retina, skeletal muscle, skeleton, stomach, utricle, vibrissa;BrainSpMouseDev|13169	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600029
MGE-IPC3	DLX2	2.035058299	0	Transcription factor	BrainSpLMD|1746;BrainSpMouseDev|13171	SFARI||Autism, 4 - Minimal evidence;OMIM|126255
MGE-IPC3	HMGN2	1.435183213	0	Transcription regulatory protein	BrainSpLMD|3151;Eurexp|euxassay_007442|embryo;BrainSpMouseDev|15106	OMIM|163910
MGE-IPC3	NKX2.1	2.441572135	1.11E-16			
MGE-IPC3	HMGN2P5	1.50521012	7.55E-15			
MGE-IPC3	PTMA	0.752513351	5.66E-14	Unclassified	BrainSpLMD|5757	OMIM|188390
MGE-IPC3	LMO1	2.334315001	1.35E-13	Transcription factor	BrainSpLMD|4004;BrainSpMouseDev|73752	OMIM|186921;COSMIC||T-ALL, neuroblastoma, neuroblastoma;HPO|4004|Elevated urinary catecholamines, Neoplasm of the nervous system
MGE-IPC3	CDK6	2.171876308	5.73E-13	Cell cycle control protein	BrainSpLMD|1021	OMIM|603368;COSMIC||ALL;HPO|1021|Abnormal cortical bone morphology, Agenesis of corpus callosum, Autosomal recessive inheritance, Cortical gyral simplification, Global developmental delay, Heterotopia, Hyperreflexia, Hypoplasia of the frontal lobes, Intellectual disability, Intellectual disability, mild, Intellectual disability, severe, Microcephaly, Pachygyria, Short stature, Sloping forehead, Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux
MGE-IPC3	HMGN2P3	1.25797975	1.02E-12			
MGE-IPC3	BEST3	2.766042895	2.86E-11	Integral membrane protein	BrainSpLMD|144453	OMIM|607337
MGE-IPC3	CCND2	1.415781079	3.48E-11	Cell cycle control protein	BrainSpLMD|894	OMIM|123833;COSMIC||NHL, CLL;HPO|894|Abnormal localization of kidney, Abnormal nasal morphology, Autosomal dominant inheritance, Congenital onset, Depressed nasal bridge, Global developmental delay, High forehead, Hydrocephalus, Hypertelorism, Macrocephaly, Megalencephaly, Mitral regurgitation, Narrow mouth, Polymicrogyria, Postaxial hand polydactyly, Prominent forehead, Seizures, Telecanthus, Ventricular septal defect, Ventriculomegaly
MGE-IPC3	TMSB4XP1	0.910187344	8.30E-11	-	BrainSpLMD|7115	
MGE-IPC3	DLX6	1.121156377	3.61E-10	Transcription factor	BrainSpLMD|1750;BrainSpMouseDev|13175	SFARI||Autism, 4 - Minimal evidence;OMIM|600030;HPO|1750|Finger syndactyly, Oligodactyly
MGE-IPC3	INSM1	1.641934976	4.52E-10	Transcription factor	BrainSpLMD|3642;Eurexp|euxassay_019598|adrenal gland, mantle layer, marginal layer, neural retina, olfactory, pancreas, ventricular layer, vomeronasal organ;BrainSpMouseDev|32944	OMIM|600010
MGE-IPC3	TUBA1B	1.220442858	5.30E-10	Structural protein	BrainSpLMD|10376	OMIM|602530
MGE-IPC3	HMGN2P41	0.578216526	5.57E-10			
MGE-IPC3	METAP1D	1.83035712	6.50E-10		BrainSpLMD|254042	OMIM|610267
MGE-IPC3	TMSB4X	0.957461532	8.02E-10	Cytoskeletal associated protein		OMIM|300159
MGE-IPC3	DLX6.AS1	0.5464734	8.73E-10			
MGE-IPC3	TMSB4XP8	0.86351194	1.15E-09	Cytoskeletal associated protein		
MGE-IPC3	GLCCI1	1.797466075	1.19E-09	Unclassified	BrainSpLMD|113263;Eurexp|euxassay_014439|axial skeleton, nasal septum, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|82074	OMIM|614283
MGE-IPC3	GAD2	2.13966313	1.51E-09	Enzyme: Decarboxylase	BrainSpLMD|2572;Eurexp|euxassay_001769|dorsal grey horn, lateral ventricle, mantle layer;BrainSpMouseDev|14193	OMIM|138275
MGE-IPC3	PFN2	1.534646308	1.93E-09	Structural protein	BrainSpLMD|5217;Eurexp|euxassay_002518|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII, vibrissa	OMIM|176590
MGE-IPC3	DLEU2	1.721652618	2.28E-09	Unclassified	BrainSpLMD|8847	OMIM|605766
MGE-IPC3	CHD7	0.942492795	2.32E-09	DNA binding protein	Eurexp|euxassay_010758|marginal layer, olfactory, ventricular layer, vestibulocochlear VIII, vomeronasal organ	SFARI||Autism, No category;OMIM|608892;HPO|55636|Abnormality of body height, Abnormality of female internal genitalia, Abnormality of lymphocytes, Abnormality of the aortic valve, Abnormality of the cardiac septa, Abnormality of the inner ear, Abnormality of the soft palate, Abnormality of the voice, Absence of pubertal development, Absence of secondary sex characteristics, Alopecia, Anophthalmia, Anosmia, Anterior hypopituitarism, Anxiety, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the thymus, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Autosomal dominant inheritance, Bifid scrotum, Breast hypoplasia, Choanal atresia, Chorioretinal coloboma, Chronic diarrhea, Cleft lip, Cleft palate, Cleft upper lip, Coloboma, Cryptorchidism, Decreased fertility, Decreased testicular size, Decreased testosterone in males, Delayed eruption of teeth, Delayed puberty, Delayed skeletal maturation, Depressed nasal bridge, Depressivity, Desquamation of skin soon after birth, Dilatation of the aortic arch, Dimple chin, Double outlet right ventricle, Downslanted palpebral fissures, Dry skin, Duodenal atresia, Dysphagia, Edema, Eosinophilia, Erectile abnormalities, Erythroderma, Esophageal atresia, Eunuchoid habitus, External ear malformation, Facial asymmetry, Facial palsy, Failure to thrive, Feeding difficulties, Female hypogonadism, Fever, Gastroesophageal reflux, Gonadotropin deficiency, Gynecomastia, Hearing impairment, Hepatomegaly, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Hypoplasia of the uterus, Hyposmia, Hypothalamic gonadotropin-releasing hormone deficiency, Hypothyroidism, Impotence, Increased female libido, Intellectual disability, Interrupted aortic arch, Iris coloboma, Labial hypoplasia, Low-set, posteriorly rotated ears, Lymphadenopathy, Lymphopenia, Malar flattening, Male hypogonadism, Micropenis, Microphthalmia, Muscular hypotonia, Narrow face, Narrow mouth, Non-obstructive azoospermia, Nystagmus, Obsessive-compulsive behavior, Optic atrophy, Osteopenia, Osteoporosis, Overfolded helix, Parathyroid hypoplasia, Patent ductus arteriosus, Phenotypic variability, Pneumonia, Polyhydramnios, Posterior choanal atresia, Postnatal growth retardation, Primary amenorrhea, Pruritus, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Secondary amenorrhea, Sensorineural hearing impairment, Severe combined immunodeficiency, Sparse body hair, Splenomegaly, Sporadic, Square face, Strabismus, Tetralogy of Fallot, Thickened skin, Tracheoesophageal fistula, Umbilical hernia, Ventricular septal defect, Wide intermamillary distance
MGE-IPC3	MYO1B	2.632377779	9.17E-09	Motor protein	BrainSpLMD|4430;Eurexp|euxassay_006192|mantle layer, olfactory, ventricular layer	OMIM|606537
MGE-IPC3	SACS	1.69484329	9.54E-09	Unclassified	BrainSpLMD|26278;Eurexp|euxassay_014163|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|604490;HPO|26278|Absent Achilles reflex, Autosomal recessive inheritance, Babinski sign, Cerebellar vermis atrophy, Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Dysmetria, Falls, Hammertoe, Hypermyelinated retinal nerve fibers, Hyperreflexia, Impaired smooth pursuit, Impaired vibration sensation in the lower limbs, Infantile onset, Intellectual disability, Loss of Purkinje cells in the cerebellar vermis, Nystagmus, Pes cavus, Progressive gait ataxia, Progressive truncal ataxia, Scanning speech, Spastic ataxia, Spasticity, Swan neck-like deformities of the fingers, Urinary urgency
MGE-IPC3	HNRNPRP1	2.576011185	1.13E-08			
MGE-IPC3	DLX5	1.819549396	1.90E-08	Transcription regulatory protein	BrainSpLMD|1749;BrainSpMouseDev|13174	OMIM|600028;HPO|1749|Autosomal recessive inheritance, Finger syndactyly, Oligodactyly, Sensorineural hearing impairment, Split foot, Split hand
MGE-IPC3	DLL1	1.851626753	2.22E-08	Calcium binding protein	BrainSpLMD|28514;Eurexp|euxassay_014876|anterior, calyces, diaphragm, extrinsic, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, intrinsic, marginal layer, midgut, olfactory, olfactory lobe, paraxial mesenchyme, rectum, rest of mesenchyme, retina, stomach, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|13167	OMIM|606582
MGE-IPC3	SOX4	0.731625351	2.69E-08	Transcription factor	BrainSpLMD|6659;Eurexp|euxassay_019583|cervical, cervico-thoracic, dorsal grey horn, dorsal root ganglion, incisor, lung, mantle layer, mesenchyme, metanephros, molar, neural retina, oesophagus, phalanx, submandibular gland primordium, testis, trachea, valve, vibrissa;BrainSpMouseDev|20439	OMIM|184430
MGE-IPC3	HMGB1	0.749346786	2.86E-08	DNA binding protein	BrainSpMouseDev|15064	OMIM|163905
MGE-IPC3	RND3	1.435438337	2.98E-08	G protein	BrainSpLMD|390	OMIM|602924
MGE-IPC3	SOX2.OT	0.786976212	6.60E-08			
MGE-IPC3	PTMAP5	0.727468792	7.36E-08			
MGE-IPC3	MT.RNR2	0.33901249	7.70E-08			
MGE-IPC3	CCDC88A	0.646316511	8.25E-08	Cytoskeletal protein	BrainSpLMD|55704;Eurexp|euxassay_012890|mantle layer, ventral grey horn	OMIM|609736;HPO|55704|Abnormality of the hand, Autosomal recessive inheritance, Cerebellar atrophy, Developmental stagnation, Edema, Epicanthus, Feeding difficulties in infancy, Full cheeks, Global developmental delay, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile encephalopathy, Intellectual disability, profound, Myoclonus, Narrow forehead, Neuronal loss in central nervous system, Open mouth, Optic atrophy, Pachygyria, Peripheral dysmyelination, Polymicrogyria, Progressive microcephaly, Retrognathia, Seizures, Severe muscular hypotonia, Short nose, Tented upper lip vermilion, Undetectable visual evoked potentials
MGE-IPC3	SERINC5	0.917426392	8.59E-08	Unclassified	BrainSpLMD|256987;Eurexp|euxassay_011506|anterior, clavicle, floor plate, floorplate, incisor, mantle layer, marginal layer, molar, phalanx, thyroid, ventricular layer, vibrissa	OMIM|614551
MGE-IPC3	MOB3B	1.246047314	1.27E-07	Unclassified	BrainSpLMD|79817;Eurexp|euxassay_011555|incisor, molar	OMIM|617652
MGE-IPC3	TMEM123	0.944086045	1.42E-07	Cell surface receptor	BrainSpLMD|114908	OMIM|606356
MGE-IPC3	DLL3	1.913210778	2.12E-07	Ligand	BrainSpLMD|10683;BrainSpMouseDev|13168	OMIM|602768;HPO|10683|Abnormal form of the vertebral bodies, Abnormality of immune system physiology, Abnormality of the intervertebral disk, Abnormality of the odontoid process, Autosomal recessive inheritance, Block vertebrae, Death in infancy, Disproportionate short-trunk short stature, Hemivertebrae, Intrauterine growth retardation, Kyphosis, Recurrent respiratory infections, Respiratory insufficiency, Rib fusion, Rib segmentation abnormalities, Scoliosis, Severe short stature, Short neck, Short stature, Short thorax, Vertebral segmentation defect
MGE-IPC3	CENPF	1.081348539	6.30E-07	Cell cycle control protein	BrainSpLMD|1063	OMIM|600236
MGE-IPC3	ST18	2.529619578	8.21E-07	Transcription regulatory protein	BrainSpLMD|9705;BrainSpMouseDev|88752	OMIM|617155
MGE-IPC3	ZC3H12C	2.173658967	8.56E-07	Unclassified		OMIM|615001
MGE-IPC3	CRB1	1.1188481	9.29E-07	Unclassified	BrainSpLMD|23418	OMIM|604210;HPO|23418|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Encephalocele, Esotropia, Glaucoma, Hemiplegia/hemiparesis, High-grade hypermetropia, Hyperinsulinemia, Hypermetropia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Muscular hypotonia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paravenous chorioretinal atrophy, Pendular nystagmus, Photophobia, Progressive night blindness, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe visual impairment, Undetectable electroretinogram, Visual impairment, Vitreoretinal degeneration, Wide nasal bridge
MGE-IPC3	RPL23A	0.809410239	1.35E-06	RNA binding protein		OMIM|602326
MGE-IPC3	MT.CO3	0.275375919	1.72E-06			
MGE-IPC3	TCEB1P2	0.731478932	2.02E-06			
MGE-IPC3	HNRNPA1P48	0.660909223	2.15E-06			
MGE-IPC3	AC009302.2	0.864619041	2.15E-06			
MGE-IPC3	PBX3	1.826083465	2.45E-06	Transcription factor	BrainSpLMD|5090;Eurexp|euxassay_002571|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, pharyngo-tympanic tube, spinal cord;BrainSpMouseDev|18282	OMIM|176312
MGE-IPC3	PTMAP2	0.745262208	3.64E-06			
MGE-IPC3	MT.CO2	0.350455241	7.93E-06			
MGE-IPC3	HMGB1P5	0.685617182	8.83E-06			
MGE-IPC3	CDCA7	1.489184846	9.06E-06	Cell cycle control protein	BrainSpLMD|83879	OMIM|609937;HPO|83879|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Conductive hearing impairment, Cryptorchidism, Decreased antibody level in blood, Depressed nasal bridge, Flat face, Global developmental delay, Hypertelorism, Hypoplastic ischia, Hypospadias, Intellectual disability, Intrauterine growth retardation, Low-set ears, Lymphopenia, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Polydactyly, Recurrent respiratory infections, Short nose, Short stature, Strabismus
MGE-IPC3	DAPK1	1.465594844	1.44E-05	Serine/threonine kinase	BrainSpLMD|1612	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600831
MGE-IPC3	GNG3	0.824042909	2.43E-05	G protein	BrainSpLMD|2785;Eurexp|euxassay_010359|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, midgut, neural retina, olfactory, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|608941
MGE-IPC3	OLA1	1.349522387	2.45E-05	Unclassified	BrainSpLMD|29789	OMIM|611175
MGE-IPC3	H1F0	1.181495762	2.78E-05	DNA binding protein	BrainSpLMD|3005;Eurexp|euxassay_006503|embryo	OMIM|142708
MGE-IPC3	HELLS	0.883985814	3.03E-05	DNA binding protein	BrainSpLMD|3070	OMIM|603946;HPO|3070|Abnormality of chromosome stability, Abnormality of neutrophils, Anemia, Autosomal recessive inheritance, Cellular immunodeficiency, Communicating hydrocephalus, Congenital onset, Decreased antibody level in blood, Depressed nasal bridge, Epicanthus, Global developmental delay, Hypertelorism, Intellectual disability, Lymphopenia, Macrocephaly, Malabsorption, Micrognathia, Recurrent infections, Recurrent respiratory infections, Short stature
MGE-IPC3	SCARNA22	0.935227754	3.49E-05			
MGE-IPC3	HNRNPA1P10	1.147971906	3.79E-05			
MGE-IPC3	HMGB2	0.874694587	4.07E-05	Transcription regulatory protein	BrainSpLMD|3148;Eurexp|euxassay_019251|incisor, lobe, lung, marginal layer, metanephros, molar, neural retina, oesophagus, pancreas, pituitary, submandibular gland primordium, thymus primordium, thyroid, trachea, turbinate bones, valve, ventricle, ventricular layer, vertebral axis muscle system	OMIM|163906
MGE-IPC3	NNAT	0.554978278	5.81E-05	Regulatory/other subunit	BrainSpLMD|4826;Eurexp|euxassay_007364|brain, cervical, cervico-thoracic, diaphragm, dorsal root ganglion, facial VII, glossopharyngeal IX, left lung, mesenchyme, mesothelium, midgut, neural retina, oesophagus, olfactory, paraxial mesenchyme, pericardial cavity, peritoneal cavity, right lung, skeletal muscle, spinal cord, stomach, thoracic, tongue, trigeminal V, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|17878	OMIM|603106
MGE-IPC3	ASCL1	1.082412599	6.32E-05	Transcription factor	BrainSpLMD|429;BrainSpMouseDev|16941	OMIM|100790;HPO|429|Abnormality of temperature regulation, Abnormality of the cardiovascular system, Abnormality of the mouth, Aganglionic megacolon, Autonomic dysregulation, Autosomal dominant inheritance, Breathing dysregulation, Central hypoventilation, Central sleep apnea, Constipation, Death in infancy, Downslanted palpebral fissures, Dysautonomia, Failure to thrive, Feeding difficulties, Ganglioneuroblastoma, Ganglioneuroma, Gastroesophageal reflux, Hyperhidrosis, Intellectual disability, Low-set ears, Muscular hypotonia, Posteriorly rotated ears, Seizures, Small for gestational age, Strabismus
MGE-IPC3	KLHL13	1.990126249	6.34E-05	Cytoskeletal associated protein	BrainSpLMD|90293;Eurexp|euxassay_010975|diaphragm, footplate, handplate, mantle layer, paraxial mesenchyme, rest of mesenchyme, skeletal muscle, vertebral axis muscle system	OMIM|300655
MGE-IPC3	HAT1	1.687931652	6.42E-05	Enzyme: Acyltransferase	BrainSpLMD|8520;Eurexp|euxassay_015562|brain, cerebral cortex, diencephalon, forebrain, hindbrain, liver, lung, medullary region, midbrain, optic II, optic stalk, telencephalon, testis, thymus primordium	OMIM|603053
MGE-IPC3	TSG101	0.572391222	6.59E-05	Ubiquitin proteasome system protein	BrainSpLMD|7251;Eurexp|euxassay_002131|brain, cervical, cervico-thoracic, dorsal root ganglion, spinal cord, thoracic, trigeminal V	OMIM|601387;HPO|7251|Autosomal dominant inheritance, Breast carcinoma, Heterogeneous
MGE-IPC3	GINS2	1.423205094	7.51E-05	Unclassified	BrainSpLMD|51659	OMIM|610609
MGE-IPC3	CDC42SE2	0.477324	8.03E-05	Unclassified	BrainSpLMD|56990	
MGE-IPC3	MT.TP	0.589761189	9.50E-05			
MGE-IPC3	CASD1	0.753371315	0.000101476	Enzyme: Transferase	BrainSpLMD|64921	OMIM|611686
MGE-IPC3	PTPRN2	1.888709924	0.000118141	Receptor tyrosine phosphatase	BrainSpLMD|5799	OMIM|601698
MGE-IPC3	GNB2L1	0.724195147	0.000118675			
MGE-IPC3	RP11.673C5.1	0.603769764	0.000127175			
MGE-IPC3	CORO1C	1.038393737	0.000130224	Cytoskeletal associated protein	BrainSpLMD|23603	OMIM|605269
MGE-IPC3	AC006042.8	1.938865415	0.000134026			
MGE-IPC3	RP11.16F15.1	0.325691763	0.000151771			
MGE-IPC3	GRIK3	2.353046168	0.000164669	Extracellular ligand gated channel	BrainSpLMD|2899;BrainSpMouseDev|14583	SFARI||Autism, No category;OMIM|138243
MGE-IPC3	RP11.3P17.3	0.646556324	0.000170938			
MGE-IPC3	MARCKS	0.670033668	0.000171912	Cytoskeletal protein	BrainSpLMD|4082	OMIM|177061
MGE-IPC3	ANP32E	0.897254645	0.000192499	Unclassified	BrainSpLMD|81611	OMIM|609611
MGE-IPC3	AC000089.3	0.629425384	0.000244244			
MGE-IPC3	CPSF7	0.591569384	0.000323934	Unclassified	BrainSpLMD|79869;Eurexp|euxassay_007331|embryo	
MGE-IPC3	OXR1	0.288522328	0.000333997	Unclassified	BrainSpLMD|55074	OMIM|605609
MGE-IPC3	HES6	1.311615071	0.000425211	Transcription regulatory protein	BrainSpLMD|55502;Eurexp|euxassay_018314|head mesenchyme, marginal layer, mesenchyme, molar, neural retina, olfactory, respiratory, retina, skeletal muscle, thymus primordium, trachea, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|35214	OMIM|610331
MGE-IPC3	HNRNPA1P7	0.420378116	0.000459012			
MGE-IPC3	MT.CYB	0.252280981	0.000474392			
MGE-IPC3	LDHBP2	0.389221244	0.000507898			
MGE-IPC3	RAB3IP	1.812256199	0.000532109	Guanine nucleotide exchange factor;Unclassified	BrainSpLMD|117177;Eurexp|euxassay_007883|calyces, hindgut, loop, stomach	OMIM|608686
MGE-IPC3	DLEU1	1.927472291	0.000535904	Unclassified	BrainSpLMD|10301	OMIM|605765
MGE-IPC3	RPL21	0.278629975	0.000543679	Ribosomal subunit		OMIM|603636;HPO|6144|Alopecia, Aplasia/Hypoplasia of the eyebrow, Autosomal dominant inheritance, Hypotrichosis, Hypotrichosis of the scalp, Sparse and thin eyebrow, Sparse body hair, Sparse eyelashes, Sparse or absent eyelashes
MGE-IPC3	H3F3A	0.656801947	0.000561395	DNA binding protein		OMIM|601128;COSMIC||glioma
MGE-IPC3	GNG5	1.000683703	0.00059884	G protein	BrainSpLMD|2787;Eurexp|euxassay_007798|embryo	OMIM|600874
MGE-IPC3	RPS11	0.570063449	0.000603869	Ribosomal subunit	BrainSpLMD|6205	OMIM|180471
MGE-IPC3	E2F2	2.297869472	0.000610484	Transcription factor	BrainSpLMD|1870;BrainSpMouseDev|88998	OMIM|600426
MGE-IPC3	MAPRE2	0.333820767	0.00062425	Cytoskeletal associated protein	BrainSpLMD|10982;Eurexp|euxassay_007836|cervical, cervico-thoracic, dorsal root ganglion, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|605789;HPO|10982|Autosomal dominant inheritance, Broad neck, Carious teeth, Cleft palate, Cryptorchidism, Delayed speech and language development, Downslanted palpebral fissures, Edema, Epicanthus, Flat face, Generalized hypotonia, Hypoplasia of the corpus callosum, Hypospadias, Increased number of skin folds, Irregular hyperpigmentation, Low-set ears, Microcornea, Micrognathia, Microphthalmia, Microtia, Motor delay, Narrow mouth, Posteriorly rotated ears, Scrotal hypoplasia, Seizures, Short neck, Short palpebral fissure, Thickened skin, Upslanted palpebral fissure
MGE-IPC3	MTAP	2.207097693	0.000641633	Enzyme: Phosphorylase	BrainSpLMD|4507;Eurexp|euxassay_003372|axial muscle, cranium, incisor, mantle layer, marginal layer, orbito-sphenoid, submandibular gland primordium, ventral grey horn, ventricular layer, vibrissa	OMIM|156540
MGE-IPC3	CS	0.41022695	0.000711503	Enzyme: Acyltransferase	BrainSpLMD|1431	OMIM|118950
MGE-IPC3	NES	0.982972639	0.000754243	Cytoskeletal protein	BrainSpLMD|10763;Eurexp|euxassay_017860|calyces, diaphragm, head mesenchyme, meninges, mesenchyme, skeletal muscle, tongue, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|17775	OMIM|600915
MGE-IPC3	CTD.2270N23.1	0.358730394	0.000853921			
MGE-IPC3	ST8SIA5	0.440501211	0.000874349	Enzyme: Sialyltransferase	BrainSpLMD|29906	OMIM|607162
MGE-IPC3	CLGN	0.58515982	0.000885043	Chaperone	BrainSpLMD|1047	OMIM|601858
MGE-IPC3	ZSWIM5	1.765154558	0.00090499	Unclassified		SFARI||Autism, 6 - Evidence does not support role
MGE-IPC3	SOX6	1.166942658	0.000962789	Transcription factor	BrainSpLMD|55553;BrainSpMouseDev|20441	OMIM|607257
MGE-IPC3	CCNE2	1.24962493	0.000964727	Cell cycle control protein	BrainSpLMD|9134	OMIM|603775
MGE-IPC3	RGS16	1.634329244	0.000978392	GTPase activating protein	BrainSpLMD|6004;Eurexp|euxassay_006229|diaphragm, dorsal grey horn, lip, mantle layer, marginal layer, mesenchyme, neural retina, skeletal muscle, ventricular layer, vertebral axis muscle system	OMIM|602514
MGE-IPC3	CHD3	1.031553547	0.001001176	DNA binding protein	BrainSpLMD|1107	OMIM|602120
MGE-IPC3	BAZ1A	1.522685522	0.001165491	DNA binding protein	BrainSpLMD|11177	OMIM|605680
MGE-IPC3	RP11.386M24.4	0.455455395	0.001171883			
MGE-IPC3	HNRNPA1	0.575595043	0.0012055	RNA binding protein	BrainSpLMD|3178	OMIM|164017;HPO|3178|Abnormality of the abdominal musculature, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dyspnea, Elevated alkaline phosphatase, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Limb-girdle muscular dystrophy, Mildly elevated creatine phosphokinase, Muscle cramps, Muscle fiber inclusion bodies, Muscular dystrophy, Myopathy, Neurodegeneration, Pain, Paralysis, Proximal muscle weakness, Respiratory failure, Rimmed vacuoles, Skeletal muscle atrophy, Spasticity, Xerostomia
MGE-IPC3	CERS6	0.474448389	0.001283246	Transcription regulatory protein	BrainSpLMD|253782	OMIM|615336
MGE-IPC3	HMGB1P10	0.76086938	0.001307027			
MGE-IPC3	ILDR2	1.136483561	0.001315944	Immunoglobulin	BrainSpLMD|387597	
MGE-IPC3	MCM2	1.325749058	0.001317583	DNA binding protein	BrainSpLMD|4171;Eurexp|euxassay_009158|brain, cardiovascular system, cavities and their linings, gland, integumental system, limb, mesenchyme, nerve, sensory organ, spinal cord, tail, ventricular layer, vertebral axis muscle system, visceral organ	OMIM|116945;HPO|4171|Autosomal dominant inheritance, Progressive sensorineural hearing impairment, Slow progression, Variable expressivity
MGE-IPC3	ACTG1	0.365461443	0.001347758	Structural protein	BrainSpLMD|71	OMIM|102560;HPO|71|Abnormality of the pinna, Aphasia, Autosomal dominant inheritance, Bilateral sensorineural hearing impairment, Cerebral cortical hemiatrophy, Coarse facial features, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Dysphasia, Echolalia, Epicanthus, Euryblepharon, Failure to thrive, Feeding difficulties, Full cheeks, Global developmental delay, Growth delay, Heterochromia iridis, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypertelorism, Intellectual disability, Iris coloboma, Joint stiffness, Large fontanelles, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Low posterior hairline, Macrogyria, Microcephaly, Micrognathia, Mutism, Osteochondrosis, Pachygyria, Pointed chin, Polymicrogyria, Progressive sensorineural hearing impairment, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Seizures, Short columella, Short neck, Skeletal dysplasia, Specific learning disability, Subcortical cerebral atrophy, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Trigonocephaly, Wide mouth, Wide nasal bridge, Wide nose, Young adult onset
MGE-IPC3	NACA3P	0.692898935	0.001371919			
MGE-IPC3	RPL4P5	0.442614861	0.001389817			
MGE-IPC3	OLA1P1	0.817440223	0.001403298			
MGE-IPC3	STMN1	0.34540963	0.001467174	Structural protein	BrainSpLMD|3925;Eurexp|euxassay_008627|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|151442
MGE-IPC3	NUDT1	1.27378917	0.001485024	Enzyme: Hydrolase	BrainSpLMD|4521	OMIM|600312
MGE-IPC3	EPHA4	1.263194696	0.001514122	Receptor tyrosine kinase	BrainSpLMD|2043;BrainSpMouseDev|13616	OMIM|602188;HPO|2043|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
MGE-IPC3	SERF2	0.489899772	0.001547349	RNA binding protein	BrainSpLMD|10169;Eurexp|euxassay_007238|cranium	OMIM|605054
MGE-IPC3	TUBAP2	0.434298532	0.001550818			
MGE-IPC3	H3F3AP4	0.486212678	0.001609618			
MGE-IPC3	RP11.529H20.3	0.349354429	0.001636764			
MGE-IPC3	BAZ2B	1.014694892	0.001723873	Transcription regulatory protein	BrainSpLMD|29994;Eurexp|euxassay_011654|olfactory, vomeronasal organ	OMIM|605683
MGE-IPC3	HNRNPC	0.953158316	0.001791101	RNA binding protein		OMIM|164020
MGE-IPC3	MSI2	1.072294883	0.001810453	RNA binding protein	BrainSpLMD|124540	OMIM|607897;COSMIC||CML
MGE-IPC3	RFTN2	0.986426463	0.001939117	Unclassified	BrainSpLMD|130132	
MGE-IPC3	FAM60A	1.219424978	0.002135586			
MGE-IPC3	CTB.79E8.3	0.510803439	0.002206037			
MGE-IPC3	ARX	0.633839373	0.002229336	Transcription factor	BrainSpLMD|170302;Eurexp|euxassay_018148|floor plate, floorplate, mantle layer, mesenchyme, ovary, pancreas, paramesonephric duct, skeletal muscle, tarsus, ventricle, ventricular layer;BrainSpMouseDev|11665	SFARI||Autism, No category;OMIM|300382;HPO|170302|Abnormal hair pattern, Abnormality of skin morphology, Abnormality of the hip bone, Agenesis of corpus callosum, Ambiguous genitalia, Broad alveolar ridges, Choreoathetosis, Coarse facial features, Cryptorchidism, Death in infancy, Decreased testicular size, Delayed speech and language development, Developmental regression, Diarrhea, Duane anomaly, Dysarthria, Dysphagia, Dyspnea, Dystonia, EEG abnormality, Epileptic encephalopathy, Feeding difficulties in infancy, Flexion contracture, Focal dystonia, Generalized hirsutism, Generalized hypotonia, Generalized myoclonic seizures, Gliosis, Global developmental delay, Hemiplegia, High forehead, High palate, Hirsutism, Hyperconvex nail, Hyperreflexia, Hypohidrosis, Hypoplasia of penis, Hypospadias, Hypsarrhythmia, Infantile spasms, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Large eyes, Limb dystonia, Limb joint contracture, Lissencephaly, Long philtrum, Long upper lip, Low anterior hairline, Low-set ears, Lower limb spasticity, Malabsorption, Microcephaly, Micrognathia, Micropenis, Muscle stiffness, Muscular hypotonia, Muscular hypotonia of the trunk, Myoclonus, Neonatal hypotonia, Nystagmus, Optic atrophy, Overlapping toe, Pachygyria, Profound global developmental delay, Prominent nasal bridge, Prominent supraorbital ridges, Protruding ear, Renal dysplasia, Rigidity, Scoliosis, Seizures, Severe global developmental delay, Short stature, Spastic tetraplegia, Spasticity, Specific learning disability, Status epilepticus, Strabismus, Synophrys, Tapered finger, Tetraplegia, Thin upper lip vermilion, Triangular face, Ventriculomegaly, Visual impairment, Wide anterior fontanel, Wide nasal bridge, X-linked inheritance, X-linked recessive inheritance
MGE-IPC3	SHFM1	0.906682309	0.002236992			
MGE-IPC3	SP9	1.261078393	0.00239043		BrainSpLMD|100131390;BrainSpMouseDev|120188	
MGE-IPC3	TEAD1	1.476445775	0.002393388	Transcription factor	BrainSpLMD|7003;BrainSpMouseDev|21437	OMIM|189967;HPO|7003|Astigmatism, Autosomal dominant inheritance, Myopia, Peripapillary chorioretinal atrophy, Slow progression
MGE-IPC3	MT.RNR1	0.552269715	0.002407485			
MGE-IPC3	TMPO	0.816769833	0.002480091	Peptide hormone	BrainSpLMD|7112	OMIM|188380;HPO|7112|Autosomal dominant inheritance, Dilated cardiomyopathy, Reduced systolic function
MGE-IPC3	SLMO2	1.381146461	0.002483287			
MGE-IPC3	RPL4P4	0.373020884	0.002520332			
MGE-IPC3	SOX2	0.593874395	0.002615084	Transcription factor	Eurexp|euxassay_019525|bladder, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, incisor, lung, mantle layer, medulla, midgut, neural retina, oesophagus, olfactory, oral epithelium, pituitary, saccule, stomach, testis, trachea, trigeminal V, urethra, ventral grey horn, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|20436	OMIM|184429;COSMIC||NSCLC, oesophageal squamous carcinoma, Microphthalmia and oesophageal atresia syndrome;HPO|6657|Agenesis of corpus callosum, Anophthalmia, Anterior pituitary hypoplasia, Autosomal dominant inheritance, Butterfly vertebrae, Cleft palate, Coloboma, Cryptorchidism, Esophageal atresia, Frontal bossing, Generalized hypotonia, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hemivertebrae, Hypogonadotrophic hypogonadism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypospadias, Hypothalamic hamartoma, Microcephaly, Micropenis, Microphthalmia, Missing ribs, Nystagmus, Optic nerve hypoplasia, Patent ductus arteriosus, Postnatal growth retardation, Rib fusion, Seizures, Sensorineural hearing impairment, Septo-optic dysplasia, Short stature, Spastic diplegia, Spastic tetraplegia, Specific learning disability, Strabismus, Supernumerary ribs, Tracheoesophageal fistula, Ventricular septal defect, Vertebral fusion, Vertebral hypoplasia, Visual impairment, Visual loss
MGE-IPC3	SF3B4	2.002786216	0.003071468	RNA binding protein	BrainSpLMD|10262	OMIM|605593;HPO|10262|Abnormal nasal morphology, Abnormality of cardiovascular system morphology, Abnormality of pelvic girdle bone morphology, Abnormality of the cervical spine, Absent radius, Absent thumb, Aganglionic megacolon, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the ulna, Aqueductal stenosis, Arrhinencephaly, Atresia of the external auditory canal, Autosomal dominant inheritance, Bicornuate uterus, Broad hallux, Cleft palate, Cleft upper lip, Clinodactyly, Conductive hearing impairment, Delayed speech and language development, Downslanted palpebral fissures, Fibular hypoplasia, Foot oligodactyly, Gastroschisis, Hallux valgus, Hand oligodactyly, Hearing impairment, Hip dislocation, Hydrocephalus, Hypoplasia of first ribs, Hypoplasia of the epiglottis, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the zygomatic bone, Joint stiffness, Laryngeal hypoplasia, Limited elbow extension, Low-set ears, Lower eyelid coloboma, Malar flattening, Microcephaly, Micrognathia, Microretrognathia, Microtia, Midface retrusion, Overlapping toe, Polymicrogyria, Posteriorly rotated ears, Preauricular skin tag, Premature birth, Prominent nasal bridge, Ptosis, Radial deviation of finger, Radioulnar synostosis, Respiratory insufficiency, Retrognathia, Scoliosis, Short stature, Short toe, Skeletal dysplasia, Sparse lower eyelashes, Sprengel anomaly, Talipes equinovarus, Tetralogy of Fallot, Toe syndactyly, Triphalangeal thumb, Trismus, Unilateral renal agenesis, Urticaria, Variable expressivity, Velopharyngeal insufficiency, Wide mouth
MGE-IPC3	EPRS	0.330638781	0.003125358	Enzyme: Ligase	BrainSpLMD|2058;Eurexp|euxassay_008064|mandible, maxilla, orbito-sphenoid, rib	OMIM|138295
MGE-IPC3	RPL4	0.577489804	0.003157951	Ribosomal subunit	BrainSpLMD|6124	OMIM|180479
MGE-IPC3	CTC.575D19.1	0.569732361	0.003190672			
MGE-IPC3	CITED2	1.322308655	0.003530139	Transcription regulatory protein	BrainSpLMD|10370;BrainSpMouseDev|17451	OMIM|602937;HPO|10370|Abnormal nasal morphology, Atrial septal defect, Autosomal dominant inheritance, Brachydactyly, Broad forehead, Clinodactyly of the 5th finger, Cryptorchidism, Dolichocephaly, Intrauterine growth retardation, Perimembranous ventricular septal defect, Preauricular pit, Proptosis, Tetralogy of Fallot, Thin vermilion border, Underdeveloped supraorbital ridges
MGE-IPC3	FEM1C	0.489647098	0.00368979	Unclassified	BrainSpLMD|56929	OMIM|608767
MGE-IPC3	FBXW7	0.946431015	0.003862775	Ubiquitin proteasome system protein	BrainSpLMD|55294;BrainSpMouseDev|30242	OMIM|606278;COSMIC||colorectal, endometrial, T-ALL
MGE-IPC3	UPF3B	1.071788781	0.003889255	RNA binding protein	BrainSpLMD|65109	SFARI||Autism, 2 - Strong candidate;OMIM|300298;HPO|65109|Abnormality of the musculature, Aplasia/Hypoplasia of the corpus callosum, Arachnodactyly, Atrial septal defect, Attention deficit hyperactivity disorder, Disproportionate tall stature, Frontal bossing, Growth abnormality, High forehead, High palate, Hypoplasia of the maxilla, Intellectual disability, Joint hyperflexibility, Kyphosis, Long face, Long foot, Macrocephaly, Macroorchidism, Mandibular prognathia, Micrognathia, Muscular hypotonia, Narrow chest, Narrow face, Nasal speech, Neurological speech impairment, Pectus carinatum, Pectus excavatum, Prominent forehead, Prominent nasal bridge, Scoliosis, Short philtrum, X-linked recessive inheritance
MGE-IPC3	RP11.26H16.1	0.426958102	0.003949653			
MGE-IPC3	TPR	0.274805609	0.004175804	Unclassified	BrainSpLMD|7175;Eurexp|euxassay_012642|cortex, incisor, lobe, molar, olfactory, testis, thymus primordium, ventricular layer, vibrissa	OMIM|189940;COSMIC||papillary thyroid, NSCLC
MGE-IPC3	CKB	0.609539982	0.004227292	Enzyme: Phosphotransferase	BrainSpLMD|1152;Eurexp|euxassay_011493|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, hindgut, lung, mandible, mantle layer, maxilla, midgut, neural retina, oesophagus, olfactory, rectum, sternum, stomach, trigeminal V, ventral grey horn, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII, vomeronasal organ, wall	OMIM|123280
MGE-IPC3	PPCS	1.904446901	0.004266307	Enzyme: Synthase	BrainSpLMD|79717	OMIM|609853
MGE-IPC3	MAP1A	1.641452974	0.004334408	Cytoskeletal associated protein	BrainSpLMD|4130	OMIM|600178
MGE-IPC3	PDCL	0.519624289	0.004355319	Regulatory/other subunit	BrainSpLMD|5082	OMIM|604421
MGE-IPC3	WDR70	2.16631538	0.004525173	Unclassified	BrainSpLMD|55100	OMIM|617233
MGE-IPC3	TCF3	1.332424422	0.00455191	Transcription factor	BrainSpLMD|6929;BrainSpMouseDev|21184	OMIM|147141;COSMIC||pre B-ALL;HPO|6929|Agammaglobulinemia, Arthritis, Autosomal dominant inheritance, B lymphocytopenia, Chronic otitis media, Conjunctivitis, Cough, Diarrhea, Failure to thrive, Fatigue, Fever, Immunodeficiency, Infantile onset, Osteomyelitis, Recurrent respiratory infections, Recurrent skin infections, Sinusitis, Skin rash
MGE-IPC3	H3F3AP6	0.451937658	0.004875848			
MGE-IPC3	RPS7P1	0.735543331	0.004914562			
MGE-IPC3	H1FX	1.305338048	0.004924201	DNA binding protein	BrainSpLMD|8971;Eurexp|euxassay_003540|medulla	OMIM|602785
MGE-IPC3	SUMO2	0.395243699	0.005170827	Unclassified	BrainSpLMD|6613	OMIM|603042
MGE-IPC3	ICE1	0.572142684	0.00525489	Unclassified		
MGE-IPC3	DCTN4	0.903025362	0.005318092	Unclassified	BrainSpLMD|51164	OMIM|614758;HPO|51164|Biliary cirrhosis, Decreased antibody level in blood, Exocrine pancreatic insufficiency, Immunodeficiency, Malabsorption, Pulmonary fibrosis, Recurrent respiratory infections
MGE-IPC3	C14orf166	0.961711297	0.005651755			
MGE-IPC3	VEZF1	0.970191974	0.006123328	Transcription factor	BrainSpLMD|7716	OMIM|606747
MGE-IPC3	RNASEH2B	1.647506074	0.006184683	Unclassified	BrainSpLMD|79621;Eurexp|euxassay_004223|4th ventricle, liver, lung, thymus primordium, ventricular layer	OMIM|610326;HPO|79621|Arrhinencephaly, Autosomal recessive inheritance, Basal ganglia calcification, Cerebral atrophy, Chronic CSF lymphocytosis, Cleft eyelid, Encephalopathy, Hemiplegia/hemiparesis, Intellectual disability, profound, Porencephalic cyst, Spasticity, Variable expressivity
MGE-IPC3	PSMC2	0.804154482	0.00639072	Ubiquitin proteasome system protein	BrainSpLMD|5701	OMIM|154365
MGE-IPC3	EIF1AX	0.377882381	0.006426389	Translation regulatory protein	BrainSpLMD|1964	OMIM|300186;COSMIC||uveal melanoma, thyroid cancer (PDTC and ATC), low grade serous ovarian cancer
MGE-IPC3	ABAT	0.953511426	0.006470241	Enzyme: Aminotransferase	BrainSpLMD|18;Eurexp|euxassay_001907|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, mantle layer, thoracic, thymus primordium, trigeminal V, ventricular layer;BrainSpMouseDev|92603	SFARI||Autism, 4 - Minimal evidence;OMIM|137150;HPO|18|Agenesis of corpus callosum, Autosomal recessive inheritance, Cerebellar hypoplasia, Death in childhood, Downslanted palpebral fissures, Global developmental delay, High-pitched cry, Hyperreflexia, Lethargy, Leukodystrophy, Posterior fossa cyst, Retrognathia, Seizures, Severe muscular hypotonia, Tall stature
MGE-IPC3	HNRNPH1	0.340130024	0.006481403	Ribonucleoprotein	BrainSpLMD|3187	OMIM|601035
MGE-IPC3	HSPA5	1.04186466	0.006755256	Chaperone	BrainSpLMD|3309	OMIM|138120
MGE-IPC3	NRXN3	0.404506608	0.006803119	Adhesion molecule	BrainSpLMD|9369;Eurexp|euxassay_009777|bladder, collecting ducts, inner ear, mantle layer, marginal layer, neural retina, vibrissa	SFARI||Autism, 3 - Suggestive evidence;OMIM|600567
MGE-IPC3	MZT2B	0.490928043	0.006830878	Unclassified	BrainSpLMD|80097	OMIM|613450
MGE-IPC3	SREBF2	1.122420955	0.006922676	Transcription factor	BrainSpLMD|6721;BrainSpMouseDev|20550	OMIM|600481
MGE-IPC3	DCLK2	0.398867027	0.007101275	Serine/threonine kinase	BrainSpLMD|166614;Eurexp|euxassay_009796|associated mesenchyme, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nasal cavity, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613166
MGE-IPC3	YBX1	0.876362878	0.007194167	Transcription factor	BrainSpLMD|4904	OMIM|154030
MGE-IPC3	NDUFC1	0.397621693	0.00723039	Unclassified	BrainSpLMD|4717	OMIM|603844
MGE-IPC3	UBB	0.417002853	0.007236857	Ubiquitin proteasome system protein	BrainSpLMD|7314	OMIM|191339;HPO|7314|Anterior open-bite malocclusion, Autosomal dominant inheritance, Cleft palate, Gingival overgrowth, Intellectual disability, profound, Micrognathia, Overbite, Seizures
MGE-IPC3	HNRNPA2B1	0.724859436	0.00768242	Ribonucleoprotein;RNA binding protein	BrainSpLMD|3181	OMIM|600124;COSMIC||prostate;HPO|3181|Abnormality of the skeletal system, Behavioral abnormality, Centrally nucleated skeletal muscle fibers, Elevated serum creatine phosphokinase, Frontotemporal dementia, Muscle fiber atrophy, Muscular dystrophy, Myopathy, Myositis, Skeletal muscle atrophy
MGE-IPC3	RBL1	1.283246408	0.007724528	Cell cycle control protein	BrainSpLMD|5933	OMIM|116957
MGE-IPC3	TCEB2	1.030636678	0.008121844			
MGE-IPC3	XPO6	1.083980766	0.00815317	Transport/cargo protein	BrainSpLMD|23214	OMIM|608411
MGE-IPC3	TRIM36.IT1	1.080230018	0.008297647			
MGE-IPC3	C14orf23	0.896269931	0.008442131			
MGE-IPC3	MTMR4	1.104595159	0.008544335	Dual specificity phosphatase	BrainSpLMD|9110	OMIM|603559
MGE-IPC3	MT.TE	0.456036293	0.008556673			
MGE-IPC3	NOP56	1.08158038	0.008614038	Unclassified	BrainSpLMD|10528	OMIM|614154;HPO|10528|Autosomal dominant inheritance, Babinski sign, Cerebellar atrophy, Dysarthria, Gait ataxia, Hyperreflexia, Impaired smooth pursuit, Incoordination, Limb ataxia, Progressive, Slow saccadic eye movements, Tongue atrophy, Tongue fasciculations
MGE-IPC3	USP1	1.158755538	0.008780019	Ubiquitin proteasome system protein	BrainSpLMD|7398	OMIM|603478
MGE-IPC3	PSMB2	1.287573425	0.008802945	Ubiquitin proteasome system protein	BrainSpLMD|5690;Eurexp|euxassay_004563|nucleus pulposus	OMIM|602175
MGE-IPC3	HNRNPCP2	0.822012495	0.00886273			
MGE-IPC3	RPL3P7	0.444029879	0.008971054			
MGE-IPC3	ACTB	0.280176007	0.009041592	Cytoskeletal protein	BrainSpLMD|60;BrainSpMouseDev|11250	OMIM|102630;HPO|60|Abnormality of metabolism/homeostasis, Achalasia, Agenesis of corpus callosum, Anteverted nares, Aortic valve stenosis, Aphasia, Autosomal dominant inheritance, Autosomal recessive inheritance, Bicuspid aortic valve, Blindness, Cataract, Cerebral cortical hemiatrophy, Chorioretinal coloboma, Cleft palate, Cleft upper lip, Coarse facial features, Cryptorchidism, Death in early adulthood, Delayed cranial suture closure, Depressed nasal tip, Downslanted palpebral fissures, Dysphagia, Dysphasia, Echolalia, Epicanthus, Euryblepharon, Externally rotated hips, Failure to thrive, Feeding difficulties, Full cheeks, Generalized dystonia, Generalized hypotonia, Global developmental delay, Growth delay, Heterochromia iridis, High forehead, Highly arched eyebrow, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplastic scapulae, Immunodeficiency, Intellectual disability, Intellectual disability, mild, Iris coloboma, Joint stiffness, Kyphoscoliosis, Kyphosis, Large fontanelles, Lissencephaly, Long nose, Long palpebral fissure, Long philtrum, Low posterior hairline, Low-set ears, Macroglossia, Macrogyria, Mental deterioration, Microcephaly, Micrognathia, Micromelia, Micropenis, Mild global developmental delay, Mutism, Oral cleft, Osteochondrosis, Overfolded helix, Pachygyria, Patent ductus arteriosus, Pointed chin, Polymicrogyria, Postnatal growth retardation, Prominent epicanthal folds, Prominent metopic ridge, Prominent nose, Ptosis, Retinoschisis, Retrognathia, Scoliosis, Seizures, Sensorineural hearing impairment, Short columella, Short neck, Short nose, Short stature, Skeletal dysplasia, Small for gestational age, Specific learning disability, Subcortical cerebral atrophy, Telecanthus, Thin upper lip vermilion, Thin vermilion border, Trigonocephaly, Wide mouth, Wide nasal bridge, Wide nose
MGE-IPC3	NRF1	1.135155112	0.009098796	DNA binding protein	BrainSpLMD|4899;Eurexp|euxassay_011903|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, femur, fibula, humerus, orbito-sphenoid, otic capsule, pelvic girdle, petrous part, scapula, tibia, turbinate bones	OMIM|600879
MGE-IPC3	CLSPN	1.729084888	0.009279103	Cell cycle control protein	BrainSpLMD|63967;Eurexp|euxassay_004199|ventricular layer	OMIM|605434
MGE-IPC3	SH3BGRL	1.230064518	0.009319487	Unclassified	BrainSpLMD|6451	OMIM|300190
MGE-IPC3	NUCB2	0.69326634	0.009424652	Calcium binding protein	BrainSpLMD|4925;BrainSpMouseDev|32802	OMIM|608020
MGE-IPC3	SCYL2	0.455960545	0.009540022	Serine/threonine kinase	BrainSpLMD|55681	OMIM|616365
MGE-IPC3	AC016708.2	0.572599028	0.009637322			
MGE-IPC3	DYRK1A	0.90446949	0.009666613	Serine/threonine kinase	BrainSpLMD|1859	SFARI||Autism, 1 - High confidence;OMIM|600855;HPO|1859|Ataxia, Autism, Autosomal dominant inheritance, Bulbous nose, Cerebral cortical atrophy, Deeply set eye, Delayed speech and language development, Failure to thrive in infancy, Febrile seizures, Gait disturbance, Generalized hypotonia, Hallux valgus, Hyperactivity, Hypotelorism, Intellectual disability, severe, Intrauterine growth retardation, Macrotia, Microcephaly, Micrognathia, Narrow forehead, Severe global developmental delay, Small for gestational age, Thickened helices
MGE-IPC3	CEP83	1.785378763	0.009682744	Unclassified	BrainSpLMD|51134;Eurexp|euxassay_005968|brain, cervical, cervico-thoracic, cochlea, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, lip, olfactory, oral epithelium, oral region, palatal shelf, spinal cord, submandibular gland primordium, thoracic, thymus primordium, tongue, trigeminal V, utricle, vagus X, vestibulocochlear VIII	OMIM|615847;HPO|51134|Autosomal recessive inheritance, Nephronophthisis, Stage 5 chronic kidney disease, Thickening of the glomerular basement membrane, Tubular atrophy, Tubulointerstitial nephritis